Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2088140_2088226del | CA2805573856 | TSC2 | c.*3509+1_*3510-1del (n.*3509+1_*3510-1del) c.5007+1_5008-1del (n.5007+1_5008-1del) c.5157+1_5158-1del (n.5157+1_5158-1del) c.*5673+1_*5674-1del (n.*5673+1_*5674-1del) c.*7909+1_*7910-1del (n.*7909+1_*7910-1del) c.5160+1_5161-1del (n.5160+1_5161-1del) c.5091+1_5092-1del (n.5091+1_5092-1del) c.4959+1_4960-1del (n.4959+1_4960-1del) c.4992+1_4993-1del (n.4992+1_4993-1del) c.1383+1_1384-1del n.3042+1_3043-1del c.3814+1_3815-1del c.5031+1_5032-13del (n.5031+1_5032-13del) n.757+1_758-1del c.4962+1_4963-1del (n.4962+1_4963-1del) c.5028+1_5029-1del (n.5028+1_5029-1del) c.4953+1_4954-1del (n.4953+1_4954-1del) n.2808+1_2809-1del c.5085+1_5086-1del (n.5085+1_5086-1del) c.5031+1_5032-1del (n.5031+1_5032-1del) c.4960_5046del (p.Val1654_Gln1682del) c.4956+1_4957-1del (n.4956+1_4957-1del) c.5081+1_5082-1del n.3244+1_3245-1del c.5154+1_5155-1del (n.5154+1_5155-1del) n.3975+1_3976-1del n.2412+1_2413-1del n.2383+1_2384-1del n.2273+1_2274-1del c.4815+1_4816-1del (n.4815+1_4816-1del) c.*4327+1_*4328-1del (n.*4327+1_*4328-1del) c.4851+1_4852-1del (n.4851+1_4852-1del) n.2883+1_2884-1del c.1342+1_1343-1del n.2275+1_2276-1del c.5214+1_5215-1del (n.5214+1_5215-1del) c.5211+1_5212-1del (n.5211+1_5212-1del) c.5103+1_5104-1del (n.5103+1_5104-1del) c.5082+1_5083-1del (n.5082+1_5083-1del) c.4428+1_4429-1del (n.4428+1_4429-1del) c.5376+1_5377-1del (n.5376+1_5377-1del) c.5124+1_5125-1del (n.5124+1_5125-1del) c.3870+1_3871-1del (n.3870+1_3871-1del) | |
16 | g.2088207_2088220delinsCCCCCTGCCTACGT | CA2202031365 | TSC2 | c.*3510-20_*3510-7delinsCCCCCTGCCTACGT (n.*3510-20_*3510-7delinsCCCCCTGCCTACGT) c.5008-20_5008-7delinsCCCCCTGCCTACGT (n.5008-20_5008-7delinsCCCCCTGCCTACGT) c.5158-20_5158-7delinsCCCCCTGCCTACGT (n.5158-20_5158-7delinsCCCCCTGCCTACGT) c.*5674-20_*5674-7delinsCCCCCTGCCTACGT (n.*5674-20_*5674-7delinsCCCCCTGCCTACGT) c.*7910-20_*7910-7delinsCCCCCTGCCTACGT (n.*7910-20_*7910-7delinsCCCCCTGCCTACGT) c.5161-20_5161-7delinsCCCCCTGCCTACGT (n.5161-20_5161-7delinsCCCCCTGCCTACGT) c.5092-20_5092-7delinsCCCCCTGCCTACGT (n.5092-20_5092-7delinsCCCCCTGCCTACGT) c.4960-20_4960-7delinsCCCCCTGCCTACGT (n.4960-20_4960-7delinsCCCCCTGCCTACGT) c.4993-20_4993-7delinsCCCCCTGCCTACGT (n.4993-20_4993-7delinsCCCCCTGCCTACGT) c.1384-20_1384-7delinsCCCCCTGCCTACGT n.3043-20_3043-7delinsCCCCCTGCCTACGT c.3815-20_3815-7delinsCCCCCTGCCTACGT c.5032-32_5032-19delinsCCCCCTGCCTACGT (n.5032-32_5032-19delinsCCCCCTGCCTACGT) n.758-20_758-7delinsCCCCCTGCCTACGT c.4963-20_4963-7delinsCCCCCTGCCTACGT (n.4963-20_4963-7delinsCCCCCTGCCTACGT) c.5029-20_5029-7delinsCCCCCTGCCTACGT (n.5029-20_5029-7delinsCCCCCTGCCTACGT) c.4954-20_4954-7delinsCCCCCTGCCTACGT (n.4954-20_4954-7delinsCCCCCTGCCTACGT) n.2809-20_2809-7delinsCCCCCTGCCTACGT c.5086-20_5086-7delinsCCCCCTGCCTACGT (n.5086-20_5086-7delinsCCCCCTGCCTACGT) c.5032-20_5032-7delinsCCCCCTGCCTACGT (n.5032-20_5032-7delinsCCCCCTGCCTACGT) c.5027_5040delinsCCCCCTGCCTACGT (p.Thr1676=) c.4957-20_4957-7delinsCCCCCTGCCTACGT (n.4957-20_4957-7delinsCCCCCTGCCTACGT) c.5082-20_5082-7delinsCCCCCTGCCTACGT n.3245-20_3245-7delinsCCCCCTGCCTACGT c.5155-20_5155-7delinsCCCCCTGCCTACGT (n.5155-20_5155-7delinsCCCCCTGCCTACGT) n.3976-20_3976-7delinsCCCCCTGCCTACGT n.2413-20_2413-7delinsCCCCCTGCCTACGT n.2384-20_2384-7delinsCCCCCTGCCTACGT n.2274-20_2274-7delinsCCCCCTGCCTACGT c.4816-20_4816-7delinsCCCCCTGCCTACGT (n.4816-20_4816-7delinsCCCCCTGCCTACGT) c.*4328-20_*4328-7delinsCCCCCTGCCTACGT (n.*4328-20_*4328-7delinsCCCCCTGCCTACGT) c.4852-20_4852-7delinsCCCCCTGCCTACGT (n.4852-20_4852-7delinsCCCCCTGCCTACGT) n.2884-20_2884-7delinsCCCCCTGCCTACGT c.1343-20_1343-7delinsCCCCCTGCCTACGT n.2276-20_2276-7delinsCCCCCTGCCTACGT c.5215-20_5215-7delinsCCCCCTGCCTACGT (n.5215-20_5215-7delinsCCCCCTGCCTACGT) c.5212-20_5212-7delinsCCCCCTGCCTACGT (n.5212-20_5212-7delinsCCCCCTGCCTACGT) c.5104-20_5104-7delinsCCCCCTGCCTACGT (n.5104-20_5104-7delinsCCCCCTGCCTACGT) c.5083-20_5083-7delinsCCCCCTGCCTACGT (n.5083-20_5083-7delinsCCCCCTGCCTACGT) c.4429-20_4429-7delinsCCCCCTGCCTACGT (n.4429-20_4429-7delinsCCCCCTGCCTACGT) c.5377-20_5377-7delinsCCCCCTGCCTACGT (n.5377-20_5377-7delinsCCCCCTGCCTACGT) c.5125-20_5125-7delinsCCCCCTGCCTACGT (n.5125-20_5125-7delinsCCCCCTGCCTACGT) c.3871-20_3871-7delinsCCCCCTGCCTACGT (n.3871-20_3871-7delinsCCCCCTGCCTACGT) | |
16 | g.2088212_2088224del | CA658656650 | TSC2 | c.*3510-15_*3510-3del (n.*3510-15_*3510-3del) c.5008-15_5008-3del (n.5008-15_5008-3del) c.5158-15_5158-3del (n.5158-15_5158-3del) c.*5674-15_*5674-3del (n.*5674-15_*5674-3del) c.*7910-15_*7910-3del (n.*7910-15_*7910-3del) c.5161-15_5161-3del (n.5161-15_5161-3del) c.5092-15_5092-3del (n.5092-15_5092-3del) c.4960-15_4960-3del (n.4960-15_4960-3del) c.4993-15_4993-3del (n.4993-15_4993-3del) c.1384-15_1384-3del n.3043-15_3043-3del c.3815-15_3815-3del c.5032-27_5032-15del (n.5032-27_5032-15del) n.758-15_758-3del c.4963-15_4963-3del (n.4963-15_4963-3del) c.5029-15_5029-3del (n.5029-15_5029-3del) c.4954-15_4954-3del (n.4954-15_4954-3del) n.2809-15_2809-3del c.5086-15_5086-3del (n.5086-15_5086-3del) c.5032-15_5032-3del (n.5032-15_5032-3del) c.5032_5044del (p.Cys1678ArgfsTer?) c.4957-15_4957-3del (n.4957-15_4957-3del) c.5082-15_5082-3del n.3245-15_3245-3del c.5155-15_5155-3del (n.5155-15_5155-3del) n.3976-15_3976-3del n.2413-15_2413-3del n.2384-15_2384-3del n.2274-15_2274-3del c.4816-15_4816-3del (n.4816-15_4816-3del) c.*4328-15_*4328-3del (n.*4328-15_*4328-3del) c.4852-15_4852-3del (n.4852-15_4852-3del) n.2884-15_2884-3del c.1343-15_1343-3del n.2276-15_2276-3del c.5215-15_5215-3del (n.5215-15_5215-3del) c.5212-15_5212-3del (n.5212-15_5212-3del) c.5104-15_5104-3del (n.5104-15_5104-3del) c.5083-15_5083-3del (n.5083-15_5083-3del) c.4429-15_4429-3del (n.4429-15_4429-3del) c.5377-15_5377-3del (n.5377-15_5377-3del) c.5125-15_5125-3del (n.5125-15_5125-3del) c.3871-15_3871-3del (n.3871-15_3871-3del) | ClinVar dbSNP |
16 | g.2088217_2088220del | CA262655 | TSC2 | c.*3510-10_*3510-7del (n.*3510-10_*3510-7del) c.5008-10_5008-7del (n.5008-10_5008-7del) c.5158-10_5158-7del (n.5158-10_5158-7del) c.*5674-10_*5674-7del (n.*5674-10_*5674-7del) c.*7910-10_*7910-7del (n.*7910-10_*7910-7del) c.5161-10_5161-7del (n.5161-10_5161-7del) c.5092-10_5092-7del (n.5092-10_5092-7del) c.4960-10_4960-7del (n.4960-10_4960-7del) c.4993-10_4993-7del (n.4993-10_4993-7del) c.1384-10_1384-7del n.3043-10_3043-7del c.3815-10_3815-7del c.5032-22_5032-19del (n.5032-22_5032-19del) n.758-10_758-7del c.4963-10_4963-7del (n.4963-10_4963-7del) c.5029-10_5029-7del (n.5029-10_5029-7del) c.4954-10_4954-7del (n.4954-10_4954-7del) n.2809-10_2809-7del c.5086-10_5086-7del (n.5086-10_5086-7del) c.5032-10_5032-7del (n.5032-10_5032-7del) c.5037_5040del (p.Arg1680ProfsTer?) c.4957-10_4957-7del (n.4957-10_4957-7del) c.5082-10_5082-7del n.3245-10_3245-7del c.5155-10_5155-7del (n.5155-10_5155-7del) n.3976-10_3976-7del n.2413-10_2413-7del n.2384-10_2384-7del n.2274-10_2274-7del c.4816-10_4816-7del (n.4816-10_4816-7del) c.*4328-10_*4328-7del (n.*4328-10_*4328-7del) c.4852-10_4852-7del (n.4852-10_4852-7del) n.2884-10_2884-7del c.1343-10_1343-7del n.2276-10_2276-7del c.5215-10_5215-7del (n.5215-10_5215-7del) c.5212-10_5212-7del (n.5212-10_5212-7del) c.5104-10_5104-7del (n.5104-10_5104-7del) c.5083-10_5083-7del (n.5083-10_5083-7del) c.4429-10_4429-7del (n.4429-10_4429-7del) c.5377-10_5377-7del (n.5377-10_5377-7del) c.5125-10_5125-7del (n.5125-10_5125-7del) c.3871-10_3871-7del (n.3871-10_3871-7del) | ClinVar dbSNP |
16 | g.2088217_2088227delinsCCCCAG | CA2695221749 | TSC2 | c.*3510-10_*3510delinsCCCCAG c.5008-10_5008delinsCCCCAG c.5158-10_5158delinsCCCCAG c.*5674-10_*5674delinsCCCCAG c.*7910-10_*7910delinsCCCCAG c.5161-10_5161delinsCCCCAG c.5092-10_5092delinsCCCCAG c.4960-10_4960delinsCCCCAG c.4993-10_4993delinsCCCCAG c.1384-10_1384delinsCCCCAG n.3043-10_3043delinsCCCCAG c.3815-10_3815delinsCCCCAG c.5032-22_5032-12delinsCCCCAG (n.5032-22_5032-12delinsCCCCAG) n.758-10_758delinsCCCCAG c.4963-10_4963delinsCCCCAG c.5029-10_5029delinsCCCCAG c.4954-10_4954delinsCCCCAG n.2809-10_2809delinsCCCCAG c.5086-10_5086delinsCCCCAG c.5032-10_5032delinsCCCCAG c.5037_5047delinsCCCCAG (p.Arg1680ProfsTer9) c.4957-10_4957delinsCCCCAG c.5082-10_5082delinsCCCCAG n.3245-10_3245delinsCCCCAG c.5155-10_5155delinsCCCCAG n.3976-10_3976delinsCCCCAG n.2413-10_2413delinsCCCCAG n.2384-10_2384delinsCCCCAG n.2274-10_2274delinsCCCCAG c.4816-10_4816delinsCCCCAG c.*4328-10_*4328delinsCCCCAG c.4852-10_4852delinsCCCCAG n.2884-10_2884delinsCCCCAG c.1343-10_1343delinsCCCCAG n.2276-10_2276delinsCCCCAG c.5215-10_5215delinsCCCCAG c.5212-10_5212delinsCCCCAG c.5104-10_5104delinsCCCCAG c.5083-10_5083delinsCCCCAG c.4429-10_4429delinsCCCCAG c.5377-10_5377delinsCCCCAG c.5125-10_5125delinsCCCCAG c.3871-10_3871delinsCCCCAG | |
16 | g.2088220T>A | CA2731827755 | TSC2 | c.*3510-7T>A (n.*3510-7T>A) c.5008-7T>A (n.5008-7T>A) c.5158-7T>A (n.5158-7T>A) c.*5674-7T>A (n.*5674-7T>A) c.*7910-7T>A (n.*7910-7T>A) c.5161-7T>A (n.5161-7T>A) c.5092-7T>A (n.5092-7T>A) c.4960-7T>A (n.4960-7T>A) c.4993-7T>A (n.4993-7T>A) c.1384-7T>A n.3043-7T>A c.3815-7T>A c.5032-19T>A (n.5032-19T>A) n.758-7T>A c.4963-7T>A (n.4963-7T>A) c.5029-7T>A (n.5029-7T>A) c.4954-7T>A (n.4954-7T>A) n.2809-7T>A c.5086-7T>A (n.5086-7T>A) c.5032-7T>A (n.5032-7T>A) c.5040T>A (p.Arg1680=) c.4957-7T>A (n.4957-7T>A) c.5082-7T>A n.3245-7T>A c.5155-7T>A (n.5155-7T>A) n.3976-7T>A n.2413-7T>A n.2384-7T>A n.2274-7T>A c.4816-7T>A (n.4816-7T>A) c.*4328-7T>A (n.*4328-7T>A) c.4852-7T>A (n.4852-7T>A) n.2884-7T>A c.1343-7T>A n.2276-7T>A c.5215-7T>A (n.5215-7T>A) c.5212-7T>A (n.5212-7T>A) c.5104-7T>A (n.5104-7T>A) c.5083-7T>A (n.5083-7T>A) c.4429-7T>A (n.4429-7T>A) c.5377-7T>A (n.5377-7T>A) c.5125-7T>A (n.5125-7T>A) c.3871-7T>A (n.3871-7T>A) | dbSNP |
16 | g.2088220T>G | CA2731827738 | TSC2 | c.*3510-7T>G (n.*3510-7T>G) c.5008-7T>G (n.5008-7T>G) c.5158-7T>G (n.5158-7T>G) c.*5674-7T>G (n.*5674-7T>G) c.*7910-7T>G (n.*7910-7T>G) c.5161-7T>G (n.5161-7T>G) c.5092-7T>G (n.5092-7T>G) c.4960-7T>G (n.4960-7T>G) c.4993-7T>G (n.4993-7T>G) c.1384-7T>G n.3043-7T>G c.3815-7T>G c.5032-19T>G (n.5032-19T>G) n.758-7T>G c.4963-7T>G (n.4963-7T>G) c.5029-7T>G (n.5029-7T>G) c.4954-7T>G (n.4954-7T>G) n.2809-7T>G c.5086-7T>G (n.5086-7T>G) c.5032-7T>G (n.5032-7T>G) c.5040T>G (p.Arg1680=) c.4957-7T>G (n.4957-7T>G) c.5082-7T>G n.3245-7T>G c.5155-7T>G (n.5155-7T>G) n.3976-7T>G n.2413-7T>G n.2384-7T>G n.2274-7T>G c.4816-7T>G (n.4816-7T>G) c.*4328-7T>G (n.*4328-7T>G) c.4852-7T>G (n.4852-7T>G) n.2884-7T>G c.1343-7T>G n.2276-7T>G c.5215-7T>G (n.5215-7T>G) c.5212-7T>G (n.5212-7T>G) c.5104-7T>G (n.5104-7T>G) c.5083-7T>G (n.5083-7T>G) c.4429-7T>G (n.4429-7T>G) c.5377-7T>G (n.5377-7T>G) c.5125-7T>G (n.5125-7T>G) c.3871-7T>G (n.3871-7T>G) | dbSNP |
16 | g.2088221C= | CA2202031464 | TSC2 | c.*3510-6C= (n.*3510-6C=) c.5008-6C= (n.5008-6C=) c.5158-6C= (n.5158-6C=) c.*5674-6C= (n.*5674-6C=) c.*7910-6C= (n.*7910-6C=) c.5161-6C= (n.5161-6C=) c.5092-6C= (n.5092-6C=) c.4960-6C= (n.4960-6C=) c.4993-6C= (n.4993-6C=) c.1384-6C= n.3043-6C= c.3815-6C= c.5032-18C= (n.5032-18C=) n.758-6C= c.4963-6C= (n.4963-6C=) c.5029-6C= (n.5029-6C=) c.4954-6C= (n.4954-6C=) n.2809-6C= c.5086-6C= (n.5086-6C=) c.5032-6C= (n.5032-6C=) c.5041C= (p.Pro1681=) c.4957-6C= (n.4957-6C=) c.5082-6C= n.3245-6C= c.5155-6C= (n.5155-6C=) n.3976-6C= n.2413-6C= n.2384-6C= n.2274-6C= c.4816-6C= (n.4816-6C=) c.*4328-6C= (n.*4328-6C=) c.4852-6C= (n.4852-6C=) n.2884-6C= c.1343-6C= n.2276-6C= c.5215-6C= (n.5215-6C=) c.5212-6C= (n.5212-6C=) c.5104-6C= (n.5104-6C=) c.5083-6C= (n.5083-6C=) c.4429-6C= (n.4429-6C=) c.5377-6C= (n.5377-6C=) c.5125-6C= (n.5125-6C=) c.3871-6C= (n.3871-6C=) | |
16 | g.2088221C>G | CA2580091161 | TSC2 | c.*3510-6C>G (n.*3510-6C>G) c.5008-6C>G (n.5008-6C>G) c.5158-6C>G (n.5158-6C>G) c.*5674-6C>G (n.*5674-6C>G) c.*7910-6C>G (n.*7910-6C>G) c.5161-6C>G (n.5161-6C>G) c.5092-6C>G (n.5092-6C>G) c.4960-6C>G (n.4960-6C>G) c.4993-6C>G (n.4993-6C>G) c.1384-6C>G n.3043-6C>G c.3815-6C>G c.5032-18C>G (n.5032-18C>G) n.758-6C>G c.4963-6C>G (n.4963-6C>G) c.5029-6C>G (n.5029-6C>G) c.4954-6C>G (n.4954-6C>G) n.2809-6C>G c.5086-6C>G (n.5086-6C>G) c.5032-6C>G (n.5032-6C>G) c.5041C>G (p.Pro1681Ala) c.4957-6C>G (n.4957-6C>G) c.5082-6C>G n.3245-6C>G c.5155-6C>G (n.5155-6C>G) n.3976-6C>G n.2413-6C>G n.2384-6C>G n.2274-6C>G c.4816-6C>G (n.4816-6C>G) c.*4328-6C>G (n.*4328-6C>G) c.4852-6C>G (n.4852-6C>G) n.2884-6C>G c.1343-6C>G n.2276-6C>G c.5215-6C>G (n.5215-6C>G) c.5212-6C>G (n.5212-6C>G) c.5104-6C>G (n.5104-6C>G) c.5083-6C>G (n.5083-6C>G) c.4429-6C>G (n.4429-6C>G) c.5377-6C>G (n.5377-6C>G) c.5125-6C>G (n.5125-6C>G) c.3871-6C>G (n.3871-6C>G) | ClinVar dbSNP |
16 | g.2088221C>T | CA620705062 | TSC2 | c.*3510-6C>T (n.*3510-6C>T) c.5008-6C>T (n.5008-6C>T) c.5158-6C>T (n.5158-6C>T) c.*5674-6C>T (n.*5674-6C>T) c.*7910-6C>T (n.*7910-6C>T) c.5161-6C>T (n.5161-6C>T) c.5092-6C>T (n.5092-6C>T) c.4960-6C>T (n.4960-6C>T) c.4993-6C>T (n.4993-6C>T) c.1384-6C>T n.3043-6C>T c.3815-6C>T c.5032-18C>T (n.5032-18C>T) n.758-6C>T c.4963-6C>T (n.4963-6C>T) c.5029-6C>T (n.5029-6C>T) c.4954-6C>T (n.4954-6C>T) n.2809-6C>T c.5086-6C>T (n.5086-6C>T) c.5032-6C>T (n.5032-6C>T) c.5041C>T (p.Pro1681Ser) c.4957-6C>T (n.4957-6C>T) c.5082-6C>T n.3245-6C>T c.5155-6C>T (n.5155-6C>T) n.3976-6C>T n.2413-6C>T n.2384-6C>T n.2274-6C>T c.4816-6C>T (n.4816-6C>T) c.*4328-6C>T (n.*4328-6C>T) c.4852-6C>T (n.4852-6C>T) n.2884-6C>T c.1343-6C>T n.2276-6C>T c.5215-6C>T (n.5215-6C>T) c.5212-6C>T (n.5212-6C>T) c.5104-6C>T (n.5104-6C>T) c.5083-6C>T (n.5083-6C>T) c.4429-6C>T (n.4429-6C>T) c.5377-6C>T (n.5377-6C>T) c.5125-6C>T (n.5125-6C>T) c.3871-6C>T (n.3871-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088224del | CA2573151978 | TSC2 | c.*3510-3del (n.*3510-3del) c.5008-3del (n.5008-3del) c.5158-3del (n.5158-3del) c.*5674-3del (n.*5674-3del) c.*7910-3del (n.*7910-3del) c.5161-3del (n.5161-3del) c.5092-3del (n.5092-3del) c.4960-3del (n.4960-3del) c.4993-3del (n.4993-3del) c.1384-3del n.3043-3del c.3815-3del c.5032-15del (n.5032-15del) n.758-3del c.4963-3del (n.4963-3del) c.5029-3del (n.5029-3del) c.4954-3del (n.4954-3del) n.2809-3del c.5086-3del (n.5086-3del) c.5032-3del (n.5032-3del) c.5044del (p.Gln1682ArgfsTer?) c.4957-3del (n.4957-3del) c.5082-3del n.3245-3del c.5155-3del (n.5155-3del) n.3976-3del n.2413-3del n.2384-3del n.2274-3del c.4816-3del (n.4816-3del) c.*4328-3del (n.*4328-3del) c.4852-3del (n.4852-3del) n.2884-3del c.1343-3del n.2276-3del c.5215-3del (n.5215-3del) c.5212-3del (n.5212-3del) c.5104-3del (n.5104-3del) c.5083-3del (n.5083-3del) c.4429-3del (n.4429-3del) c.5377-3del (n.5377-3del) c.5125-3del (n.5125-3del) c.3871-3del (n.3871-3del) | ClinVar dbSNP |
16 | g.2088222C>A | CA276759298 | TSC2 | c.*3510-5C>A (n.*3510-5C>A) c.5008-5C>A (n.5008-5C>A) c.5158-5C>A (n.5158-5C>A) c.*5674-5C>A (n.*5674-5C>A) c.*7910-5C>A (n.*7910-5C>A) c.5161-5C>A (n.5161-5C>A) c.5092-5C>A (n.5092-5C>A) c.4960-5C>A (n.4960-5C>A) c.4993-5C>A (n.4993-5C>A) c.1384-5C>A n.3043-5C>A c.3815-5C>A c.5032-17C>A (n.5032-17C>A) n.758-5C>A c.4963-5C>A (n.4963-5C>A) c.5029-5C>A (n.5029-5C>A) c.4954-5C>A (n.4954-5C>A) n.2809-5C>A c.5086-5C>A (n.5086-5C>A) c.5032-5C>A (n.5032-5C>A) c.5042C>A (p.Pro1681His) c.4957-5C>A (n.4957-5C>A) c.5082-5C>A n.3245-5C>A c.5155-5C>A (n.5155-5C>A) n.3976-5C>A n.2413-5C>A n.2384-5C>A n.2274-5C>A c.4816-5C>A (n.4816-5C>A) c.*4328-5C>A (n.*4328-5C>A) c.4852-5C>A (n.4852-5C>A) n.2884-5C>A c.1343-5C>A n.2276-5C>A c.5215-5C>A (n.5215-5C>A) c.5212-5C>A (n.5212-5C>A) c.5104-5C>A (n.5104-5C>A) c.5083-5C>A (n.5083-5C>A) c.4429-5C>A (n.4429-5C>A) c.5377-5C>A (n.5377-5C>A) c.5125-5C>A (n.5125-5C>A) c.3871-5C>A (n.3871-5C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088222C= | CA2202031494 | TSC2 | c.*3510-5C= (n.*3510-5C=) c.5008-5C= (n.5008-5C=) c.5158-5C= (n.5158-5C=) c.*5674-5C= (n.*5674-5C=) c.*7910-5C= (n.*7910-5C=) c.5161-5C= (n.5161-5C=) c.5092-5C= (n.5092-5C=) c.4960-5C= (n.4960-5C=) c.4993-5C= (n.4993-5C=) c.1384-5C= n.3043-5C= c.3815-5C= c.5032-17C= (n.5032-17C=) n.758-5C= c.4963-5C= (n.4963-5C=) c.5029-5C= (n.5029-5C=) c.4954-5C= (n.4954-5C=) n.2809-5C= c.5086-5C= (n.5086-5C=) c.5032-5C= (n.5032-5C=) c.5042C= (p.Pro1681=) c.4957-5C= (n.4957-5C=) c.5082-5C= n.3245-5C= c.5155-5C= (n.5155-5C=) n.3976-5C= n.2413-5C= n.2384-5C= n.2274-5C= c.4816-5C= (n.4816-5C=) c.*4328-5C= (n.*4328-5C=) c.4852-5C= (n.4852-5C=) n.2884-5C= c.1343-5C= n.2276-5C= c.5215-5C= (n.5215-5C=) c.5212-5C= (n.5212-5C=) c.5104-5C= (n.5104-5C=) c.5083-5C= (n.5083-5C=) c.4429-5C= (n.4429-5C=) c.5377-5C= (n.5377-5C=) c.5125-5C= (n.5125-5C=) c.3871-5C= (n.3871-5C=) | |
16 | g.2088222C>G | CA620705063 | TSC2 | c.*3510-5C>G (n.*3510-5C>G) c.5008-5C>G (n.5008-5C>G) c.5158-5C>G (n.5158-5C>G) c.*5674-5C>G (n.*5674-5C>G) c.*7910-5C>G (n.*7910-5C>G) c.5161-5C>G (n.5161-5C>G) c.5092-5C>G (n.5092-5C>G) c.4960-5C>G (n.4960-5C>G) c.4993-5C>G (n.4993-5C>G) c.1384-5C>G n.3043-5C>G c.3815-5C>G c.5032-17C>G (n.5032-17C>G) n.758-5C>G c.4963-5C>G (n.4963-5C>G) c.5029-5C>G (n.5029-5C>G) c.4954-5C>G (n.4954-5C>G) n.2809-5C>G c.5086-5C>G (n.5086-5C>G) c.5032-5C>G (n.5032-5C>G) c.5042C>G (p.Pro1681Arg) c.4957-5C>G (n.4957-5C>G) c.5082-5C>G n.3245-5C>G c.5155-5C>G (n.5155-5C>G) n.3976-5C>G n.2413-5C>G n.2384-5C>G n.2274-5C>G c.4816-5C>G (n.4816-5C>G) c.*4328-5C>G (n.*4328-5C>G) c.4852-5C>G (n.4852-5C>G) n.2884-5C>G c.1343-5C>G n.2276-5C>G c.5215-5C>G (n.5215-5C>G) c.5212-5C>G (n.5212-5C>G) c.5104-5C>G (n.5104-5C>G) c.5083-5C>G (n.5083-5C>G) c.4429-5C>G (n.4429-5C>G) c.5377-5C>G (n.5377-5C>G) c.5125-5C>G (n.5125-5C>G) c.3871-5C>G (n.3871-5C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088222C>T | CA054284 | TSC2 | c.*3510-5C>T (n.*3510-5C>T) c.5008-5C>T (n.5008-5C>T) c.5158-5C>T (n.5158-5C>T) c.*5674-5C>T (n.*5674-5C>T) c.*7910-5C>T (n.*7910-5C>T) c.5161-5C>T (n.5161-5C>T) c.5092-5C>T (n.5092-5C>T) c.4960-5C>T (n.4960-5C>T) c.4993-5C>T (n.4993-5C>T) c.1384-5C>T n.3043-5C>T c.3815-5C>T c.5032-17C>T (n.5032-17C>T) n.758-5C>T c.4963-5C>T (n.4963-5C>T) c.5029-5C>T (n.5029-5C>T) c.4954-5C>T (n.4954-5C>T) n.2809-5C>T c.5086-5C>T (n.5086-5C>T) c.5032-5C>T (n.5032-5C>T) c.5042C>T (p.Pro1681Leu) c.4957-5C>T (n.4957-5C>T) c.5082-5C>T n.3245-5C>T c.5155-5C>T (n.5155-5C>T) n.3976-5C>T n.2413-5C>T n.2384-5C>T n.2274-5C>T c.4816-5C>T (n.4816-5C>T) c.*4328-5C>T (n.*4328-5C>T) c.4852-5C>T (n.4852-5C>T) n.2884-5C>T c.1343-5C>T n.2276-5C>T c.5215-5C>T (n.5215-5C>T) c.5212-5C>T (n.5212-5C>T) c.5104-5C>T (n.5104-5C>T) c.5083-5C>T (n.5083-5C>T) c.4429-5C>T (n.4429-5C>T) c.5377-5C>T (n.5377-5C>T) c.5125-5C>T (n.5125-5C>T) c.3871-5C>T (n.3871-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088223C>A | CA915946264 | TSC2 | c.*3510-4C>A (n.*3510-4C>A) c.5008-4C>A (n.5008-4C>A) c.5158-4C>A (n.5158-4C>A) c.*5674-4C>A (n.*5674-4C>A) c.*7910-4C>A (n.*7910-4C>A) c.5161-4C>A (n.5161-4C>A) c.5092-4C>A (n.5092-4C>A) c.4960-4C>A (n.4960-4C>A) c.4993-4C>A (n.4993-4C>A) c.1384-4C>A n.3043-4C>A c.3815-4C>A c.5032-16C>A (n.5032-16C>A) n.758-4C>A c.4963-4C>A (n.4963-4C>A) c.5029-4C>A (n.5029-4C>A) c.4954-4C>A (n.4954-4C>A) n.2809-4C>A c.5086-4C>A (n.5086-4C>A) c.5032-4C>A (n.5032-4C>A) c.5043C>A (p.Pro1681=) c.4957-4C>A (n.4957-4C>A) c.5082-4C>A n.3245-4C>A c.5155-4C>A (n.5155-4C>A) n.3976-4C>A n.2413-4C>A n.2384-4C>A n.2274-4C>A c.4816-4C>A (n.4816-4C>A) c.*4328-4C>A (n.*4328-4C>A) c.4852-4C>A (n.4852-4C>A) n.2884-4C>A c.1343-4C>A n.2276-4C>A c.5215-4C>A (n.5215-4C>A) c.5212-4C>A (n.5212-4C>A) c.5104-4C>A (n.5104-4C>A) c.5083-4C>A (n.5083-4C>A) c.4429-4C>A (n.4429-4C>A) c.5377-4C>A (n.5377-4C>A) c.5125-4C>A (n.5125-4C>A) c.3871-4C>A (n.3871-4C>A) | ClinVar dbSNP |
16 | g.2088223C= | CA2202031510 | TSC2 | c.*3510-4C= (n.*3510-4C=) c.5008-4C= (n.5008-4C=) c.5158-4C= (n.5158-4C=) c.*5674-4C= (n.*5674-4C=) c.*7910-4C= (n.*7910-4C=) c.5161-4C= (n.5161-4C=) c.5092-4C= (n.5092-4C=) c.4960-4C= (n.4960-4C=) c.4993-4C= (n.4993-4C=) c.1384-4C= n.3043-4C= c.3815-4C= c.5032-16C= (n.5032-16C=) n.758-4C= c.4963-4C= (n.4963-4C=) c.5029-4C= (n.5029-4C=) c.4954-4C= (n.4954-4C=) n.2809-4C= c.5086-4C= (n.5086-4C=) c.5032-4C= (n.5032-4C=) c.5043C= (p.Pro1681=) c.4957-4C= (n.4957-4C=) c.5082-4C= n.3245-4C= c.5155-4C= (n.5155-4C=) n.3976-4C= n.2413-4C= n.2384-4C= n.2274-4C= c.4816-4C= (n.4816-4C=) c.*4328-4C= (n.*4328-4C=) c.4852-4C= (n.4852-4C=) n.2884-4C= c.1343-4C= n.2276-4C= c.5215-4C= (n.5215-4C=) c.5212-4C= (n.5212-4C=) c.5104-4C= (n.5104-4C=) c.5083-4C= (n.5083-4C=) c.4429-4C= (n.4429-4C=) c.5377-4C= (n.5377-4C=) c.5125-4C= (n.5125-4C=) c.3871-4C= (n.3871-4C=) | |
16 | g.2088223C>G | CA022027 | TSC2 | c.*3510-4C>G (n.*3510-4C>G) c.5008-4C>G (n.5008-4C>G) c.5158-4C>G (n.5158-4C>G) c.*5674-4C>G (n.*5674-4C>G) c.*7910-4C>G (n.*7910-4C>G) c.5161-4C>G (n.5161-4C>G) c.5092-4C>G (n.5092-4C>G) c.4960-4C>G (n.4960-4C>G) c.4993-4C>G (n.4993-4C>G) c.1384-4C>G n.3043-4C>G c.3815-4C>G c.5032-16C>G (n.5032-16C>G) n.758-4C>G c.4963-4C>G (n.4963-4C>G) c.5029-4C>G (n.5029-4C>G) c.4954-4C>G (n.4954-4C>G) n.2809-4C>G c.5086-4C>G (n.5086-4C>G) c.5032-4C>G (n.5032-4C>G) c.5043C>G (p.Pro1681=) c.4957-4C>G (n.4957-4C>G) c.5082-4C>G n.3245-4C>G c.5155-4C>G (n.5155-4C>G) n.3976-4C>G n.2413-4C>G n.2384-4C>G n.2274-4C>G c.4816-4C>G (n.4816-4C>G) c.*4328-4C>G (n.*4328-4C>G) c.4852-4C>G (n.4852-4C>G) n.2884-4C>G c.1343-4C>G n.2276-4C>G c.5215-4C>G (n.5215-4C>G) c.5212-4C>G (n.5212-4C>G) c.5104-4C>G (n.5104-4C>G) c.5083-4C>G (n.5083-4C>G) c.4429-4C>G (n.4429-4C>G) c.5377-4C>G (n.5377-4C>G) c.5125-4C>G (n.5125-4C>G) c.3871-4C>G (n.3871-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088223C>T | CA2731567138 | TSC2 | c.*3510-4C>T (n.*3510-4C>T) c.5008-4C>T (n.5008-4C>T) c.5158-4C>T (n.5158-4C>T) c.*5674-4C>T (n.*5674-4C>T) c.*7910-4C>T (n.*7910-4C>T) c.5161-4C>T (n.5161-4C>T) c.5092-4C>T (n.5092-4C>T) c.4960-4C>T (n.4960-4C>T) c.4993-4C>T (n.4993-4C>T) c.1384-4C>T n.3043-4C>T c.3815-4C>T c.5032-16C>T (n.5032-16C>T) n.758-4C>T c.4963-4C>T (n.4963-4C>T) c.5029-4C>T (n.5029-4C>T) c.4954-4C>T (n.4954-4C>T) n.2809-4C>T c.5086-4C>T (n.5086-4C>T) c.5032-4C>T (n.5032-4C>T) c.5043C>T (p.Pro1681=) c.4957-4C>T (n.4957-4C>T) c.5082-4C>T n.3245-4C>T c.5155-4C>T (n.5155-4C>T) n.3976-4C>T n.2413-4C>T n.2384-4C>T n.2274-4C>T c.4816-4C>T (n.4816-4C>T) c.*4328-4C>T (n.*4328-4C>T) c.4852-4C>T (n.4852-4C>T) n.2884-4C>T c.1343-4C>T n.2276-4C>T c.5215-4C>T (n.5215-4C>T) c.5212-4C>T (n.5212-4C>T) c.5104-4C>T (n.5104-4C>T) c.5083-4C>T (n.5083-4C>T) c.4429-4C>T (n.4429-4C>T) c.5377-4C>T (n.5377-4C>T) c.5125-4C>T (n.5125-4C>T) c.3871-4C>T (n.3871-4C>T) | dbSNP |
16 | g.2088224C>A | CA2731619521 | TSC2 | c.*3510-3C>A (n.*3510-3C>A) c.5008-3C>A (n.5008-3C>A) c.5158-3C>A (n.5158-3C>A) c.*5674-3C>A (n.*5674-3C>A) c.*7910-3C>A (n.*7910-3C>A) c.5161-3C>A (n.5161-3C>A) c.5092-3C>A (n.5092-3C>A) c.4960-3C>A (n.4960-3C>A) c.4993-3C>A (n.4993-3C>A) c.1384-3C>A n.3043-3C>A c.3815-3C>A c.5032-15C>A (n.5032-15C>A) n.758-3C>A c.4963-3C>A (n.4963-3C>A) c.5029-3C>A (n.5029-3C>A) c.4954-3C>A (n.4954-3C>A) n.2809-3C>A c.5086-3C>A (n.5086-3C>A) c.5032-3C>A (n.5032-3C>A) c.5044C>A (p.Gln1682Lys) c.4957-3C>A (n.4957-3C>A) c.5082-3C>A n.3245-3C>A c.5155-3C>A (n.5155-3C>A) n.3976-3C>A n.2413-3C>A n.2384-3C>A n.2274-3C>A c.4816-3C>A (n.4816-3C>A) c.*4328-3C>A (n.*4328-3C>A) c.4852-3C>A (n.4852-3C>A) n.2884-3C>A c.1343-3C>A n.2276-3C>A c.5215-3C>A (n.5215-3C>A) c.5212-3C>A (n.5212-3C>A) c.5104-3C>A (n.5104-3C>A) c.5083-3C>A (n.5083-3C>A) c.4429-3C>A (n.4429-3C>A) c.5377-3C>A (n.5377-3C>A) c.5125-3C>A (n.5125-3C>A) c.3871-3C>A (n.3871-3C>A) | dbSNP |
16 | g.2088224C= | CA2202031515 | TSC2 | c.*3510-3C= (n.*3510-3C=) c.5008-3C= (n.5008-3C=) c.5158-3C= (n.5158-3C=) c.*5674-3C= (n.*5674-3C=) c.*7910-3C= (n.*7910-3C=) c.5161-3C= (n.5161-3C=) c.5092-3C= (n.5092-3C=) c.4960-3C= (n.4960-3C=) c.4993-3C= (n.4993-3C=) c.1384-3C= n.3043-3C= c.3815-3C= c.5032-15C= (n.5032-15C=) n.758-3C= c.4963-3C= (n.4963-3C=) c.5029-3C= (n.5029-3C=) c.4954-3C= (n.4954-3C=) n.2809-3C= c.5086-3C= (n.5086-3C=) c.5032-3C= (n.5032-3C=) c.5044C= (p.Gln1682=) c.4957-3C= (n.4957-3C=) c.5082-3C= n.3245-3C= c.5155-3C= (n.5155-3C=) n.3976-3C= n.2413-3C= n.2384-3C= n.2274-3C= c.4816-3C= (n.4816-3C=) c.*4328-3C= (n.*4328-3C=) c.4852-3C= (n.4852-3C=) n.2884-3C= c.1343-3C= n.2276-3C= c.5215-3C= (n.5215-3C=) c.5212-3C= (n.5212-3C=) c.5104-3C= (n.5104-3C=) c.5083-3C= (n.5083-3C=) c.4429-3C= (n.4429-3C=) c.5377-3C= (n.5377-3C=) c.5125-3C= (n.5125-3C=) c.3871-3C= (n.3871-3C=) | |
16 | g.2088224C>G | CA2731619522 | TSC2 | c.*3510-3C>G (n.*3510-3C>G) c.5008-3C>G (n.5008-3C>G) c.5158-3C>G (n.5158-3C>G) c.*5674-3C>G (n.*5674-3C>G) c.*7910-3C>G (n.*7910-3C>G) c.5161-3C>G (n.5161-3C>G) c.5092-3C>G (n.5092-3C>G) c.4960-3C>G (n.4960-3C>G) c.4993-3C>G (n.4993-3C>G) c.1384-3C>G n.3043-3C>G c.3815-3C>G c.5032-15C>G (n.5032-15C>G) n.758-3C>G c.4963-3C>G (n.4963-3C>G) c.5029-3C>G (n.5029-3C>G) c.4954-3C>G (n.4954-3C>G) n.2809-3C>G c.5086-3C>G (n.5086-3C>G) c.5032-3C>G (n.5032-3C>G) c.5044C>G (p.Gln1682Glu) c.4957-3C>G (n.4957-3C>G) c.5082-3C>G n.3245-3C>G c.5155-3C>G (n.5155-3C>G) n.3976-3C>G n.2413-3C>G n.2384-3C>G n.2274-3C>G c.4816-3C>G (n.4816-3C>G) c.*4328-3C>G (n.*4328-3C>G) c.4852-3C>G (n.4852-3C>G) n.2884-3C>G c.1343-3C>G n.2276-3C>G c.5215-3C>G (n.5215-3C>G) c.5212-3C>G (n.5212-3C>G) c.5104-3C>G (n.5104-3C>G) c.5083-3C>G (n.5083-3C>G) c.4429-3C>G (n.4429-3C>G) c.5377-3C>G (n.5377-3C>G) c.5125-3C>G (n.5125-3C>G) c.3871-3C>G (n.3871-3C>G) | dbSNP |
16 | g.2088224C>T | CA620705064 | TSC2 | c.*3510-3C>T (n.*3510-3C>T) c.5008-3C>T (n.5008-3C>T) c.5158-3C>T (n.5158-3C>T) c.*5674-3C>T (n.*5674-3C>T) c.*7910-3C>T (n.*7910-3C>T) c.5161-3C>T (n.5161-3C>T) c.5092-3C>T (n.5092-3C>T) c.4960-3C>T (n.4960-3C>T) c.4993-3C>T (n.4993-3C>T) c.1384-3C>T n.3043-3C>T c.3815-3C>T c.5032-15C>T (n.5032-15C>T) n.758-3C>T c.4963-3C>T (n.4963-3C>T) c.5029-3C>T (n.5029-3C>T) c.4954-3C>T (n.4954-3C>T) n.2809-3C>T c.5086-3C>T (n.5086-3C>T) c.5032-3C>T (n.5032-3C>T) c.5044C>T (p.Gln1682Ter) c.4957-3C>T (n.4957-3C>T) c.5082-3C>T n.3245-3C>T c.5155-3C>T (n.5155-3C>T) n.3976-3C>T n.2413-3C>T n.2384-3C>T n.2274-3C>T c.4816-3C>T (n.4816-3C>T) c.*4328-3C>T (n.*4328-3C>T) c.4852-3C>T (n.4852-3C>T) n.2884-3C>T c.1343-3C>T n.2276-3C>T c.5215-3C>T (n.5215-3C>T) c.5212-3C>T (n.5212-3C>T) c.5104-3C>T (n.5104-3C>T) c.5083-3C>T (n.5083-3C>T) c.4429-3C>T (n.4429-3C>T) c.5377-3C>T (n.5377-3C>T) c.5125-3C>T (n.5125-3C>T) c.3871-3C>T (n.3871-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088225A= | CA2202031517 | TSC2 | c.*3510-2A= (n.*3510-2A=) c.5008-2A= (n.5008-2A=) c.5158-2A= (n.5158-2A=) c.*5674-2A= (n.*5674-2A=) c.*7910-2A= (n.*7910-2A=) c.5161-2A= (n.5161-2A=) c.5092-2A= (n.5092-2A=) c.4960-2A= (n.4960-2A=) c.4993-2A= (n.4993-2A=) c.1384-2A= n.3043-2A= c.3815-2A= c.5032-14A= (n.5032-14A=) n.758-2A= c.4963-2A= (n.4963-2A=) c.5029-2A= (n.5029-2A=) c.4954-2A= (n.4954-2A=) n.2809-2A= c.5086-2A= (n.5086-2A=) c.5032-2A= (n.5032-2A=) c.5045A= (p.Gln1682=) c.4957-2A= (n.4957-2A=) c.5082-2A= n.3245-2A= c.5155-2A= (n.5155-2A=) n.3976-2A= n.2413-2A= n.2384-2A= n.2274-2A= c.4816-2A= (n.4816-2A=) c.*4328-2A= (n.*4328-2A=) c.4852-2A= (n.4852-2A=) n.2884-2A= c.1343-2A= n.2276-2A= c.5215-2A= (n.5215-2A=) c.5212-2A= (n.5212-2A=) c.5104-2A= (n.5104-2A=) c.5083-2A= (n.5083-2A=) c.4429-2A= (n.4429-2A=) c.5377-2A= (n.5377-2A=) c.5125-2A= (n.5125-2A=) c.3871-2A= (n.3871-2A=) | |
16 | g.2088225A>C | CA394313786 | TSC2 | c.*3510-2A>C (n.*3510-2A>C) c.5008-2A>C (n.5008-2A>C) c.5158-2A>C (n.5158-2A>C) c.*5674-2A>C (n.*5674-2A>C) c.*7910-2A>C (n.*7910-2A>C) c.5161-2A>C (n.5161-2A>C) c.5092-2A>C (n.5092-2A>C) c.4960-2A>C (n.4960-2A>C) c.4993-2A>C (n.4993-2A>C) c.1384-2A>C n.3043-2A>C c.3815-2A>C c.5032-14A>C (n.5032-14A>C) n.758-2A>C c.4963-2A>C (n.4963-2A>C) c.5029-2A>C (n.5029-2A>C) c.4954-2A>C (n.4954-2A>C) n.2809-2A>C c.5086-2A>C (n.5086-2A>C) c.5032-2A>C (n.5032-2A>C) c.5045A>C (p.Gln1682Pro) c.4957-2A>C (n.4957-2A>C) c.5082-2A>C n.3245-2A>C c.5155-2A>C (n.5155-2A>C) n.3976-2A>C n.2413-2A>C n.2384-2A>C n.2274-2A>C c.4816-2A>C (n.4816-2A>C) c.*4328-2A>C (n.*4328-2A>C) c.4852-2A>C (n.4852-2A>C) n.2884-2A>C c.1343-2A>C n.2276-2A>C c.5215-2A>C (n.5215-2A>C) c.5212-2A>C (n.5212-2A>C) c.5104-2A>C (n.5104-2A>C) c.5083-2A>C (n.5083-2A>C) c.4429-2A>C (n.4429-2A>C) c.5377-2A>C (n.5377-2A>C) c.5125-2A>C (n.5125-2A>C) c.3871-2A>C (n.3871-2A>C) | |
16 | g.2088225A>G | CA394313791 | TSC2 | c.*3510-2A>G (n.*3510-2A>G) c.5008-2A>G (n.5008-2A>G) c.5158-2A>G (n.5158-2A>G) c.*5674-2A>G (n.*5674-2A>G) c.*7910-2A>G (n.*7910-2A>G) c.5161-2A>G (n.5161-2A>G) c.5092-2A>G (n.5092-2A>G) c.4960-2A>G (n.4960-2A>G) c.4993-2A>G (n.4993-2A>G) c.1384-2A>G n.3043-2A>G c.3815-2A>G c.5032-14A>G (n.5032-14A>G) n.758-2A>G c.4963-2A>G (n.4963-2A>G) c.5029-2A>G (n.5029-2A>G) c.4954-2A>G (n.4954-2A>G) n.2809-2A>G c.5086-2A>G (n.5086-2A>G) c.5032-2A>G (n.5032-2A>G) c.5045A>G (p.Gln1682Arg) c.4957-2A>G (n.4957-2A>G) c.5082-2A>G n.3245-2A>G c.5155-2A>G (n.5155-2A>G) n.3976-2A>G n.2413-2A>G n.2384-2A>G n.2274-2A>G c.4816-2A>G (n.4816-2A>G) c.*4328-2A>G (n.*4328-2A>G) c.4852-2A>G (n.4852-2A>G) n.2884-2A>G c.1343-2A>G n.2276-2A>G c.5215-2A>G (n.5215-2A>G) c.5212-2A>G (n.5212-2A>G) c.5104-2A>G (n.5104-2A>G) c.5083-2A>G (n.5083-2A>G) c.4429-2A>G (n.4429-2A>G) c.5377-2A>G (n.5377-2A>G) c.5125-2A>G (n.5125-2A>G) c.3871-2A>G (n.3871-2A>G) | ClinVar dbSNP |
16 | g.2088225A>T | CA394313795 | TSC2 | c.*3510-2A>T (n.*3510-2A>T) c.5008-2A>T (n.5008-2A>T) c.5158-2A>T (n.5158-2A>T) c.*5674-2A>T (n.*5674-2A>T) c.*7910-2A>T (n.*7910-2A>T) c.5161-2A>T (n.5161-2A>T) c.5092-2A>T (n.5092-2A>T) c.4960-2A>T (n.4960-2A>T) c.4993-2A>T (n.4993-2A>T) c.1384-2A>T n.3043-2A>T c.3815-2A>T c.5032-14A>T (n.5032-14A>T) n.758-2A>T c.4963-2A>T (n.4963-2A>T) c.5029-2A>T (n.5029-2A>T) c.4954-2A>T (n.4954-2A>T) n.2809-2A>T c.5086-2A>T (n.5086-2A>T) c.5032-2A>T (n.5032-2A>T) c.5045A>T (p.Gln1682Leu) c.4957-2A>T (n.4957-2A>T) c.5082-2A>T n.3245-2A>T c.5155-2A>T (n.5155-2A>T) n.3976-2A>T n.2413-2A>T n.2384-2A>T n.2274-2A>T c.4816-2A>T (n.4816-2A>T) c.*4328-2A>T (n.*4328-2A>T) c.4852-2A>T (n.4852-2A>T) n.2884-2A>T c.1343-2A>T n.2276-2A>T c.5215-2A>T (n.5215-2A>T) c.5212-2A>T (n.5212-2A>T) c.5104-2A>T (n.5104-2A>T) c.5083-2A>T (n.5083-2A>T) c.4429-2A>T (n.4429-2A>T) c.5377-2A>T (n.5377-2A>T) c.5125-2A>T (n.5125-2A>T) c.3871-2A>T (n.3871-2A>T) | dbSNP |
16 | g.2088226G>A | CA022008 | TSC2 | c.*3510-1G>A (n.*3510-1G>A) c.5008-1G>A (n.5008-1G>A) c.5158-1G>A (n.5158-1G>A) c.*5674-1G>A (n.*5674-1G>A) c.*7910-1G>A (n.*7910-1G>A) c.5161-1G>A (n.5161-1G>A) c.5092-1G>A (n.5092-1G>A) c.4960-1G>A (n.4960-1G>A) c.4993-1G>A (n.4993-1G>A) c.1384-1G>A n.3043-1G>A c.3815-1G>A c.5032-13G>A (n.5032-13G>A) n.758-1G>A c.4963-1G>A (n.4963-1G>A) c.5029-1G>A (n.5029-1G>A) c.4954-1G>A (n.4954-1G>A) n.2809-1G>A c.5086-1G>A (n.5086-1G>A) c.5032-1G>A (n.5032-1G>A) c.5046G>A (p.Gln1682=) c.4957-1G>A (n.4957-1G>A) c.5082-1G>A n.3245-1G>A c.5155-1G>A (n.5155-1G>A) n.3976-1G>A n.2413-1G>A n.2384-1G>A n.2274-1G>A c.4816-1G>A (n.4816-1G>A) c.*4328-1G>A (n.*4328-1G>A) c.4852-1G>A (n.4852-1G>A) n.2884-1G>A c.1343-1G>A n.2276-1G>A c.5215-1G>A (n.5215-1G>A) c.5212-1G>A (n.5212-1G>A) c.5104-1G>A (n.5104-1G>A) c.5083-1G>A (n.5083-1G>A) c.4429-1G>A (n.4429-1G>A) c.5377-1G>A (n.5377-1G>A) c.5125-1G>A (n.5125-1G>A) c.3871-1G>A (n.3871-1G>A) | ClinVar dbSNP |
16 | g.2088226G>C | CA022014 | TSC2 | c.*3510-1G>C (n.*3510-1G>C) c.5008-1G>C (n.5008-1G>C) c.5158-1G>C (n.5158-1G>C) c.*5674-1G>C (n.*5674-1G>C) c.*7910-1G>C (n.*7910-1G>C) c.5161-1G>C (n.5161-1G>C) c.5092-1G>C (n.5092-1G>C) c.4960-1G>C (n.4960-1G>C) c.4993-1G>C (n.4993-1G>C) c.1384-1G>C n.3043-1G>C c.3815-1G>C c.5032-13G>C (n.5032-13G>C) n.758-1G>C c.4963-1G>C (n.4963-1G>C) c.5029-1G>C (n.5029-1G>C) c.4954-1G>C (n.4954-1G>C) n.2809-1G>C c.5086-1G>C (n.5086-1G>C) c.5032-1G>C (n.5032-1G>C) c.5046G>C (p.Gln1682His) c.4957-1G>C (n.4957-1G>C) c.5082-1G>C n.3245-1G>C c.5155-1G>C (n.5155-1G>C) n.3976-1G>C n.2413-1G>C n.2384-1G>C n.2274-1G>C c.4816-1G>C (n.4816-1G>C) c.*4328-1G>C (n.*4328-1G>C) c.4852-1G>C (n.4852-1G>C) n.2884-1G>C c.1343-1G>C n.2276-1G>C c.5215-1G>C (n.5215-1G>C) c.5212-1G>C (n.5212-1G>C) c.5104-1G>C (n.5104-1G>C) c.5083-1G>C (n.5083-1G>C) c.4429-1G>C (n.4429-1G>C) c.5377-1G>C (n.5377-1G>C) c.5125-1G>C (n.5125-1G>C) c.3871-1G>C (n.3871-1G>C) | ClinVar dbSNP |
16 | g.2088226G= | CA2202031525 | TSC2 | c.*3510-1G= (n.*3510-1G=) c.5008-1G= (n.5008-1G=) c.5158-1G= (n.5158-1G=) c.*5674-1G= (n.*5674-1G=) c.*7910-1G= (n.*7910-1G=) c.5161-1G= (n.5161-1G=) c.5092-1G= (n.5092-1G=) c.4960-1G= (n.4960-1G=) c.4993-1G= (n.4993-1G=) c.1384-1G= n.3043-1G= c.3815-1G= c.5032-13G= (n.5032-13G=) n.758-1G= c.4963-1G= (n.4963-1G=) c.5029-1G= (n.5029-1G=) c.4954-1G= (n.4954-1G=) n.2809-1G= c.5086-1G= (n.5086-1G=) c.5032-1G= (n.5032-1G=) c.5046G= (p.Gln1682=) c.4957-1G= (n.4957-1G=) c.5082-1G= n.3245-1G= c.5155-1G= (n.5155-1G=) n.3976-1G= n.2413-1G= n.2384-1G= n.2274-1G= c.4816-1G= (n.4816-1G=) c.*4328-1G= (n.*4328-1G=) c.4852-1G= (n.4852-1G=) n.2884-1G= c.1343-1G= n.2276-1G= c.5215-1G= (n.5215-1G=) c.5212-1G= (n.5212-1G=) c.5104-1G= (n.5104-1G=) c.5083-1G= (n.5083-1G=) c.4429-1G= (n.4429-1G=) c.5377-1G= (n.5377-1G=) c.5125-1G= (n.5125-1G=) c.3871-1G= (n.3871-1G=) | |
16 | g.2088226G>T | CA022018 | TSC2 | c.*3510-1G>T (n.*3510-1G>T) c.5008-1G>T (n.5008-1G>T) c.5158-1G>T (n.5158-1G>T) c.*5674-1G>T (n.*5674-1G>T) c.*7910-1G>T (n.*7910-1G>T) c.5161-1G>T (n.5161-1G>T) c.5092-1G>T (n.5092-1G>T) c.4960-1G>T (n.4960-1G>T) c.4993-1G>T (n.4993-1G>T) c.1384-1G>T n.3043-1G>T c.3815-1G>T c.5032-13G>T (n.5032-13G>T) n.758-1G>T c.4963-1G>T (n.4963-1G>T) c.5029-1G>T (n.5029-1G>T) c.4954-1G>T (n.4954-1G>T) n.2809-1G>T c.5086-1G>T (n.5086-1G>T) c.5032-1G>T (n.5032-1G>T) c.5046G>T (p.Gln1682His) c.4957-1G>T (n.4957-1G>T) c.5082-1G>T n.3245-1G>T c.5155-1G>T (n.5155-1G>T) n.3976-1G>T n.2413-1G>T n.2384-1G>T n.2274-1G>T c.4816-1G>T (n.4816-1G>T) c.*4328-1G>T (n.*4328-1G>T) c.4852-1G>T (n.4852-1G>T) n.2884-1G>T c.1343-1G>T n.2276-1G>T c.5215-1G>T (n.5215-1G>T) c.5212-1G>T (n.5212-1G>T) c.5104-1G>T (n.5104-1G>T) c.5083-1G>T (n.5083-1G>T) c.4429-1G>T (n.4429-1G>T) c.5377-1G>T (n.5377-1G>T) c.5125-1G>T (n.5125-1G>T) c.3871-1G>T (n.3871-1G>T) | ClinVar dbSNP |
16 | g.2088226_2088227delinsGA | CA2202031527 | TSC2 | c.*3510-1_*3510delinsGA c.5008-1_5008delinsGA c.5158-1_5158delinsGA c.*5674-1_*5674delinsGA c.*7910-1_*7910delinsGA c.5161-1_5161delinsGA c.5092-1_5092delinsGA c.4960-1_4960delinsGA c.4993-1_4993delinsGA c.1384-1_1384delinsGA n.3043-1_3043delinsGA c.3815-1_3815delinsGA c.5032-13_5032-12delinsGA (n.5032-13_5032-12delinsGA) n.758-1_758delinsGA c.4963-1_4963delinsGA c.5029-1_5029delinsGA c.4954-1_4954delinsGA n.2809-1_2809delinsGA c.5086-1_5086delinsGA c.5032-1_5032delinsGA c.5046_5047delinsGA (p.Gln1682=) c.4957-1_4957delinsGA c.5082-1_5082delinsGA n.3245-1_3245delinsGA c.5155-1_5155delinsGA n.3976-1_3976delinsGA n.2413-1_2413delinsGA n.2384-1_2384delinsGA n.2274-1_2274delinsGA c.4816-1_4816delinsGA c.*4328-1_*4328delinsGA c.4852-1_4852delinsGA n.2884-1_2884delinsGA c.1343-1_1343delinsGA n.2276-1_2276delinsGA c.5215-1_5215delinsGA c.5212-1_5212delinsGA c.5104-1_5104delinsGA c.5083-1_5083delinsGA c.4429-1_4429delinsGA c.5377-1_5377delinsGA c.5125-1_5125delinsGA c.3871-1_3871delinsGA | |
16 | g.2088227del | CA022047 | TSC2 | c.*3510del (n.*3510del) c.5008del (p.Met1670TrpfsTer?) c.5158del (p.Met1720TrpfsTer?) c.*5674del (n.*5674del) c.*7910del (n.*7910del) c.5161del (p.Met1721TrpfsTer?) c.5092del (p.Met1698TrpfsTer?) c.4960del (p.Met1654TrpfsTer?) c.4993del (p.Met1665TrpfsTer?) c.1384del n.3043del c.3815del c.5032-12del (n.5032-12del) n.758del c.4963del (p.Met1655TrpfsTer?) c.5029del (p.Met1677TrpfsTer?) c.4954del (p.Met1652TrpfsTer?) n.2809del c.5086del (p.Met1696TrpfsTer?) c.5032del (p.Met1678TrpfsTer?) c.5047del (p.Met1683TrpfsTer?) c.4957del (p.Met1653TrpfsTer?) c.5082del n.3245del c.5155del (p.Met1719TrpfsTer?) n.3976del n.2413del n.2384del n.2274del c.4816del (p.Met1606TrpfsTer?) c.*4328del (n.*4328del) c.4852del (p.Met1618TrpfsTer?) n.2884del c.1343del n.2276del c.5215del (p.Met1739TrpfsTer?) c.5212del (p.Met1738TrpfsTer?) c.5104del (p.Met1702TrpfsTer?) c.5083del (p.Met1695TrpfsTer?) c.4429del (p.Met1477TrpfsTer?) c.5377del (p.Met1793TrpfsTer?) c.5125del (p.Met1709TrpfsTer?) c.3871del (p.Met1291TrpfsTer?) | ClinVar dbSNP |
16 | g.2088227A= | CA2202031534 | TSC2 | c.*3510A= (n.*3510A=) c.5008A= (p.Met1670=) c.5158A= (p.Met1720=) c.*5674A= (n.*5674A=) c.*7910A= (n.*7910A=) c.5161A= (p.Met1721=) c.5092A= (p.Met1698=) c.4960A= (p.Met1654=) c.4993A= (p.Met1665=) c.1384A= n.3043A= c.3815A= c.5032-12A= (n.5032-12A=) n.758A= c.4963A= (p.Met1655=) c.5029A= (p.Met1677=) c.4954A= (p.Met1652=) n.2809A= c.5086A= (p.Met1696=) c.5032A= (p.Met1678=) c.5047A= (p.Met1683=) c.4957A= (p.Met1653=) c.5082A= n.3245A= c.5155A= (p.Met1719=) n.3976A= n.2413A= n.2384A= n.2274A= c.4816A= (p.Met1606=) c.*4328A= (n.*4328A=) c.4852A= (p.Met1618=) n.2884A= c.1343A= n.2276A= c.5215A= (p.Met1739=) c.5212A= (p.Met1738=) c.5104A= (p.Met1702=) c.5083A= (p.Met1695=) c.4429A= (p.Met1477=) c.5377A= (p.Met1793=) c.5125A= (p.Met1709=) c.3871A= (p.Met1291=) | |
16 | g.2088227A>C | CA022042 | TSC2 | c.*3510A>C (n.*3510A>C) c.5008A>C (p.Met1670Leu) c.5158A>C (p.Met1720Leu) c.*5674A>C (n.*5674A>C) c.*7910A>C (n.*7910A>C) c.5161A>C (p.Met1721Leu) c.5092A>C (p.Met1698Leu) c.4960A>C (p.Met1654Leu) c.4993A>C (p.Met1665Leu) c.1384A>C n.3043A>C c.3815A>C c.5032-12A>C (n.5032-12A>C) n.758A>C c.4963A>C (p.Met1655Leu) c.5029A>C (p.Met1677Leu) c.4954A>C (p.Met1652Leu) n.2809A>C c.5086A>C (p.Met1696Leu) c.5032A>C (p.Met1678Leu) c.5047A>C (p.Met1683Leu) c.4957A>C (p.Met1653Leu) c.5082A>C n.3245A>C c.5155A>C (p.Met1719Leu) n.3976A>C n.2413A>C n.2384A>C n.2274A>C c.4816A>C (p.Met1606Leu) c.*4328A>C (n.*4328A>C) c.4852A>C (p.Met1618Leu) n.2884A>C c.1343A>C n.2276A>C c.5215A>C (p.Met1739Leu) c.5212A>C (p.Met1738Leu) c.5104A>C (p.Met1702Leu) c.5083A>C (p.Met1695Leu) c.4429A>C (p.Met1477Leu) c.5377A>C (p.Met1793Leu) c.5125A>C (p.Met1709Leu) c.3871A>C (p.Met1291Leu) | ClinVar dbSNP COSMIC COSMIC |
16 | g.2088227A>G | CA054307 | TSC2 | c.*3510A>G (n.*3510A>G) c.5008A>G (p.Met1670Val) c.5158A>G (p.Met1720Val) c.*5674A>G (n.*5674A>G) c.*7910A>G (n.*7910A>G) c.5161A>G (p.Met1721Val) c.5092A>G (p.Met1698Val) c.4960A>G (p.Met1654Val) c.4993A>G (p.Met1665Val) c.1384A>G n.3043A>G c.3815A>G c.5032-12A>G (n.5032-12A>G) n.758A>G c.4963A>G (p.Met1655Val) c.5029A>G (p.Met1677Val) c.4954A>G (p.Met1652Val) n.2809A>G c.5086A>G (p.Met1696Val) c.5032A>G (p.Met1678Val) c.5047A>G (p.Met1683Val) c.4957A>G (p.Met1653Val) c.5082A>G n.3245A>G c.5155A>G (p.Met1719Val) n.3976A>G n.2413A>G n.2384A>G n.2274A>G c.4816A>G (p.Met1606Val) c.*4328A>G (n.*4328A>G) c.4852A>G (p.Met1618Val) n.2884A>G c.1343A>G n.2276A>G c.5215A>G (p.Met1739Val) c.5212A>G (p.Met1738Val) c.5104A>G (p.Met1702Val) c.5083A>G (p.Met1695Val) c.4429A>G (p.Met1477Val) c.5377A>G (p.Met1793Val) c.5125A>G (p.Met1709Val) c.3871A>G (p.Met1291Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088227A>T | CA394313801 | TSC2 | c.*3510A>T (n.*3510A>T) c.5008A>T (p.Met1670Leu) c.5158A>T (p.Met1720Leu) c.*5674A>T (n.*5674A>T) c.*7910A>T (n.*7910A>T) c.5161A>T (p.Met1721Leu) c.5092A>T (p.Met1698Leu) c.4960A>T (p.Met1654Leu) c.4993A>T (p.Met1665Leu) c.1384A>T n.3043A>T c.3815A>T c.5032-12A>T (n.5032-12A>T) n.758A>T c.4963A>T (p.Met1655Leu) c.5029A>T (p.Met1677Leu) c.4954A>T (p.Met1652Leu) n.2809A>T c.5086A>T (p.Met1696Leu) c.5032A>T (p.Met1678Leu) c.5047A>T (p.Met1683Leu) c.4957A>T (p.Met1653Leu) c.5082A>T n.3245A>T c.5155A>T (p.Met1719Leu) n.3976A>T n.2413A>T n.2384A>T n.2274A>T c.4816A>T (p.Met1606Leu) c.*4328A>T (n.*4328A>T) c.4852A>T (p.Met1618Leu) n.2884A>T c.1343A>T n.2276A>T c.5215A>T (p.Met1739Leu) c.5212A>T (p.Met1738Leu) c.5104A>T (p.Met1702Leu) c.5083A>T (p.Met1695Leu) c.4429A>T (p.Met1477Leu) c.5377A>T (p.Met1793Leu) c.5125A>T (p.Met1709Leu) c.3871A>T (p.Met1291Leu) | dbSNP |
16 | g.2088228T>A | CA394313806 | TSC2 | c.*3511T>A (n.*3511T>A) c.5009T>A (p.Met1670Lys) c.5159T>A (p.Met1720Lys) c.*5675T>A (n.*5675T>A) c.*7911T>A (n.*7911T>A) c.5162T>A (p.Met1721Lys) c.5093T>A (p.Met1698Lys) c.4961T>A (p.Met1654Lys) c.4994T>A (p.Met1665Lys) c.1385T>A n.3044T>A c.3816T>A c.5032-11T>A (n.5032-11T>A) n.759T>A c.4964T>A (p.Met1655Lys) c.5030T>A (p.Met1677Lys) c.4955T>A (p.Met1652Lys) n.2810T>A c.5087T>A (p.Met1696Lys) c.5033T>A (p.Met1678Lys) c.5048T>A (p.Met1683Lys) c.4958T>A (p.Met1653Lys) c.5083T>A n.3246T>A c.5156T>A (p.Met1719Lys) n.3977T>A n.2414T>A n.2385T>A n.2275T>A c.4817T>A (p.Met1606Lys) c.*4329T>A (n.*4329T>A) c.4853T>A (p.Met1618Lys) n.2885T>A c.1344T>A n.2277T>A c.5216T>A (p.Met1739Lys) c.5213T>A (p.Met1738Lys) c.5105T>A (p.Met1702Lys) c.5084T>A (p.Met1695Lys) c.4430T>A (p.Met1477Lys) c.5378T>A (p.Met1793Lys) c.5126T>A (p.Met1709Lys) c.3872T>A (p.Met1291Lys) | |
16 | g.2088228T>C | CA394313812 | TSC2 | c.*3511T>C (n.*3511T>C) c.5009T>C (p.Met1670Thr) c.5159T>C (p.Met1720Thr) c.*5675T>C (n.*5675T>C) c.*7911T>C (n.*7911T>C) c.5162T>C (p.Met1721Thr) c.5093T>C (p.Met1698Thr) c.4961T>C (p.Met1654Thr) c.4994T>C (p.Met1665Thr) c.1385T>C n.3044T>C c.3816T>C c.5032-11T>C (n.5032-11T>C) n.759T>C c.4964T>C (p.Met1655Thr) c.5030T>C (p.Met1677Thr) c.4955T>C (p.Met1652Thr) n.2810T>C c.5087T>C (p.Met1696Thr) c.5033T>C (p.Met1678Thr) c.5048T>C (p.Met1683Thr) c.4958T>C (p.Met1653Thr) c.5083T>C n.3246T>C c.5156T>C (p.Met1719Thr) n.3977T>C n.2414T>C n.2385T>C n.2275T>C c.4817T>C (p.Met1606Thr) c.*4329T>C (n.*4329T>C) c.4853T>C (p.Met1618Thr) n.2885T>C c.1344T>C n.2277T>C c.5216T>C (p.Met1739Thr) c.5213T>C (p.Met1738Thr) c.5105T>C (p.Met1702Thr) c.5084T>C (p.Met1695Thr) c.4430T>C (p.Met1477Thr) c.5378T>C (p.Met1793Thr) c.5126T>C (p.Met1709Thr) c.3872T>C (p.Met1291Thr) | dbSNP |
16 | g.2088228T>G | CA394313815 | TSC2 | c.*3511T>G (n.*3511T>G) c.5009T>G (p.Met1670Arg) c.5159T>G (p.Met1720Arg) c.*5675T>G (n.*5675T>G) c.*7911T>G (n.*7911T>G) c.5162T>G (p.Met1721Arg) c.5093T>G (p.Met1698Arg) c.4961T>G (p.Met1654Arg) c.4994T>G (p.Met1665Arg) c.1385T>G n.3044T>G c.3816T>G c.5032-11T>G (n.5032-11T>G) n.759T>G c.4964T>G (p.Met1655Arg) c.5030T>G (p.Met1677Arg) c.4955T>G (p.Met1652Arg) n.2810T>G c.5087T>G (p.Met1696Arg) c.5033T>G (p.Met1678Arg) c.5048T>G (p.Met1683Arg) c.4958T>G (p.Met1653Arg) c.5083T>G n.3246T>G c.5156T>G (p.Met1719Arg) n.3977T>G n.2414T>G n.2385T>G n.2275T>G c.4817T>G (p.Met1606Arg) c.*4329T>G (n.*4329T>G) c.4853T>G (p.Met1618Arg) n.2885T>G c.1344T>G n.2277T>G c.5216T>G (p.Met1739Arg) c.5213T>G (p.Met1738Arg) c.5105T>G (p.Met1702Arg) c.5084T>G (p.Met1695Arg) c.4430T>G (p.Met1477Arg) c.5378T>G (p.Met1793Arg) c.5126T>G (p.Met1709Arg) c.3872T>G (p.Met1291Arg) | dbSNP |
16 | g.2088228T= | CA2202031544 | TSC2 | c.*3511T= (n.*3511T=) c.5009T= (p.Met1670=) c.5159T= (p.Met1720=) c.*5675T= (n.*5675T=) c.*7911T= (n.*7911T=) c.5162T= (p.Met1721=) c.5093T= (p.Met1698=) c.4961T= (p.Met1654=) c.4994T= (p.Met1665=) c.1385T= n.3044T= c.3816T= c.5032-11T= (n.5032-11T=) n.759T= c.4964T= (p.Met1655=) c.5030T= (p.Met1677=) c.4955T= (p.Met1652=) n.2810T= c.5087T= (p.Met1696=) c.5033T= (p.Met1678=) c.5048T= (p.Met1683=) c.4958T= (p.Met1653=) c.5083T= n.3246T= c.5156T= (p.Met1719=) n.3977T= n.2414T= n.2385T= n.2275T= c.4817T= (p.Met1606=) c.*4329T= (n.*4329T=) c.4853T= (p.Met1618=) n.2885T= c.1344T= n.2277T= c.5216T= (p.Met1739=) c.5213T= (p.Met1738=) c.5105T= (p.Met1702=) c.5084T= (p.Met1695=) c.4430T= (p.Met1477=) c.5378T= (p.Met1793=) c.5126T= (p.Met1709=) c.3872T= (p.Met1291=) | |
16 | g.2088229G>A | CA394313825 | TSC2 | c.*3512G>A (n.*3512G>A) c.5010G>A (p.Met1670Ile) c.5160G>A (p.Met1720Ile) c.*5676G>A (n.*5676G>A) c.*7912G>A (n.*7912G>A) c.5163G>A (p.Met1721Ile) c.5094G>A (p.Met1698Ile) c.4962G>A (p.Met1654Ile) c.4995G>A (p.Met1665Ile) c.1386G>A n.3045G>A c.3817G>A c.5032-10G>A (n.5032-10G>A) n.760G>A c.4965G>A (p.Met1655Ile) c.5031G>A (p.Met1677Ile) c.4956G>A (p.Met1652Ile) n.2811G>A c.5088G>A (p.Met1696Ile) c.5034G>A (p.Met1678Ile) c.5049G>A (p.Met1683Ile) c.4959G>A (p.Met1653Ile) c.5084G>A n.3247G>A c.5157G>A (p.Met1719Ile) n.3978G>A n.2415G>A n.2386G>A n.2276G>A c.4818G>A (p.Met1606Ile) c.*4330G>A (n.*4330G>A) c.4854G>A (p.Met1618Ile) n.2886G>A c.1345G>A n.2278G>A c.5217G>A (p.Met1739Ile) c.5214G>A (p.Met1738Ile) c.5106G>A (p.Met1702Ile) c.5085G>A (p.Met1695Ile) c.4431G>A (p.Met1477Ile) c.5379G>A (p.Met1793Ile) c.5127G>A (p.Met1709Ile) c.3873G>A (p.Met1291Ile) | ClinVar |
16 | g.2088229G>C | CA394313831 | TSC2 | c.*3512G>C (n.*3512G>C) c.5010G>C (p.Met1670Ile) c.5160G>C (p.Met1720Ile) c.*5676G>C (n.*5676G>C) c.*7912G>C (n.*7912G>C) c.5163G>C (p.Met1721Ile) c.5094G>C (p.Met1698Ile) c.4962G>C (p.Met1654Ile) c.4995G>C (p.Met1665Ile) c.1386G>C n.3045G>C c.3817G>C c.5032-10G>C (n.5032-10G>C) n.760G>C c.4965G>C (p.Met1655Ile) c.5031G>C (p.Met1677Ile) c.4956G>C (p.Met1652Ile) n.2811G>C c.5088G>C (p.Met1696Ile) c.5034G>C (p.Met1678Ile) c.5049G>C (p.Met1683Ile) c.4959G>C (p.Met1653Ile) c.5084G>C n.3247G>C c.5157G>C (p.Met1719Ile) n.3978G>C n.2415G>C n.2386G>C n.2276G>C c.4818G>C (p.Met1606Ile) c.*4330G>C (n.*4330G>C) c.4854G>C (p.Met1618Ile) n.2886G>C c.1345G>C n.2278G>C c.5217G>C (p.Met1739Ile) c.5214G>C (p.Met1738Ile) c.5106G>C (p.Met1702Ile) c.5085G>C (p.Met1695Ile) c.4431G>C (p.Met1477Ile) c.5379G>C (p.Met1793Ile) c.5127G>C (p.Met1709Ile) c.3873G>C (p.Met1291Ile) | |
16 | g.2088229G>T | CA394313843 | TSC2 | c.*3512G>T (n.*3512G>T) c.5010G>T (p.Met1670Ile) c.5160G>T (p.Met1720Ile) c.*5676G>T (n.*5676G>T) c.*7912G>T (n.*7912G>T) c.5163G>T (p.Met1721Ile) c.5094G>T (p.Met1698Ile) c.4962G>T (p.Met1654Ile) c.4995G>T (p.Met1665Ile) c.1386G>T n.3045G>T c.3817G>T c.5032-10G>T (n.5032-10G>T) n.760G>T c.4965G>T (p.Met1655Ile) c.5031G>T (p.Met1677Ile) c.4956G>T (p.Met1652Ile) n.2811G>T c.5088G>T (p.Met1696Ile) c.5034G>T (p.Met1678Ile) c.5049G>T (p.Met1683Ile) c.4959G>T (p.Met1653Ile) c.5084G>T n.3247G>T c.5157G>T (p.Met1719Ile) n.3978G>T n.2415G>T n.2386G>T n.2276G>T c.4818G>T (p.Met1606Ile) c.*4330G>T (n.*4330G>T) c.4854G>T (p.Met1618Ile) n.2886G>T c.1345G>T n.2278G>T c.5217G>T (p.Met1739Ile) c.5214G>T (p.Met1738Ile) c.5106G>T (p.Met1702Ile) c.5085G>T (p.Met1695Ile) c.4431G>T (p.Met1477Ile) c.5379G>T (p.Met1793Ile) c.5127G>T (p.Met1709Ile) c.3873G>T (p.Met1291Ile) | |
16 | g.2088230G>A | CA394313849 | TSC2 | c.*3513G>A (n.*3513G>A) c.5011G>A (p.Ala1671Thr) c.5161G>A (p.Ala1721Thr) c.*5677G>A (n.*5677G>A) c.*7913G>A (n.*7913G>A) c.5164G>A (p.Ala1722Thr) c.5095G>A (p.Ala1699Thr) c.4963G>A (p.Ala1655Thr) c.4996G>A (p.Ala1666Thr) c.1387G>A n.3046G>A c.3818G>A c.5032-9G>A (n.5032-9G>A) n.761G>A c.4966G>A (p.Ala1656Thr) c.5032G>A (p.Ala1678Thr) c.4957G>A (p.Ala1653Thr) n.2812G>A c.5089G>A (p.Ala1697Thr) c.5035G>A (p.Ala1679Thr) c.5050G>A (p.Ala1684Thr) c.4960G>A (p.Ala1654Thr) c.5085G>A n.3248G>A c.5158G>A (p.Ala1720Thr) n.3979G>A n.2416G>A n.2387G>A n.2277G>A c.4819G>A (p.Ala1607Thr) c.*4331G>A (n.*4331G>A) c.4855G>A (p.Ala1619Thr) n.2887G>A c.1346G>A n.2279G>A c.5218G>A (p.Ala1740Thr) c.5215G>A (p.Ala1739Thr) c.5107G>A (p.Ala1703Thr) c.5086G>A (p.Ala1696Thr) c.4432G>A (p.Ala1478Thr) c.5380G>A (p.Ala1794Thr) c.5128G>A (p.Ala1710Thr) c.3874G>A (p.Ala1292Thr) | ClinVar dbSNP |
16 | g.2088230G>C | CA022052 | TSC2 | c.*3513G>C (n.*3513G>C) c.5011G>C (p.Ala1671Pro) c.5161G>C (p.Ala1721Pro) c.*5677G>C (n.*5677G>C) c.*7913G>C (n.*7913G>C) c.5164G>C (p.Ala1722Pro) c.5095G>C (p.Ala1699Pro) c.4963G>C (p.Ala1655Pro) c.4996G>C (p.Ala1666Pro) c.1387G>C n.3046G>C c.3818G>C c.5032-9G>C (n.5032-9G>C) n.761G>C c.4966G>C (p.Ala1656Pro) c.5032G>C (p.Ala1678Pro) c.4957G>C (p.Ala1653Pro) n.2812G>C c.5089G>C (p.Ala1697Pro) c.5035G>C (p.Ala1679Pro) c.5050G>C (p.Ala1684Pro) c.4960G>C (p.Ala1654Pro) c.5085G>C n.3248G>C c.5158G>C (p.Ala1720Pro) n.3979G>C n.2416G>C n.2387G>C n.2277G>C c.4819G>C (p.Ala1607Pro) c.*4331G>C (n.*4331G>C) c.4855G>C (p.Ala1619Pro) n.2887G>C c.1346G>C n.2279G>C c.5218G>C (p.Ala1740Pro) c.5215G>C (p.Ala1739Pro) c.5107G>C (p.Ala1703Pro) c.5086G>C (p.Ala1696Pro) c.4432G>C (p.Ala1478Pro) c.5380G>C (p.Ala1794Pro) c.5128G>C (p.Ala1710Pro) c.3874G>C (p.Ala1292Pro) | ClinVar dbSNP |
16 | g.2088230G= | CA2202031552 | TSC2 | c.*3513G= (n.*3513G=) c.5011G= (p.Ala1671=) c.5161G= (p.Ala1721=) c.*5677G= (n.*5677G=) c.*7913G= (n.*7913G=) c.5164G= (p.Ala1722=) c.5095G= (p.Ala1699=) c.4963G= (p.Ala1655=) c.4996G= (p.Ala1666=) c.1387G= n.3046G= c.3818G= c.5032-9G= (n.5032-9G=) n.761G= c.4966G= (p.Ala1656=) c.5032G= (p.Ala1678=) c.4957G= (p.Ala1653=) n.2812G= c.5089G= (p.Ala1697=) c.5035G= (p.Ala1679=) c.5050G= (p.Ala1684=) c.4960G= (p.Ala1654=) c.5085G= n.3248G= c.5158G= (p.Ala1720=) n.3979G= n.2416G= n.2387G= n.2277G= c.4819G= (p.Ala1607=) c.*4331G= (n.*4331G=) c.4855G= (p.Ala1619=) n.2887G= c.1346G= n.2279G= c.5218G= (p.Ala1740=) c.5215G= (p.Ala1739=) c.5107G= (p.Ala1703=) c.5086G= (p.Ala1696=) c.4432G= (p.Ala1478=) c.5380G= (p.Ala1794=) c.5128G= (p.Ala1710=) c.3874G= (p.Ala1292=) | |
16 | g.2088230G>T | CA394313851 | TSC2 | c.*3513G>T (n.*3513G>T) c.5011G>T (p.Ala1671Ser) c.5161G>T (p.Ala1721Ser) c.*5677G>T (n.*5677G>T) c.*7913G>T (n.*7913G>T) c.5164G>T (p.Ala1722Ser) c.5095G>T (p.Ala1699Ser) c.4963G>T (p.Ala1655Ser) c.4996G>T (p.Ala1666Ser) c.1387G>T n.3046G>T c.3818G>T c.5032-9G>T (n.5032-9G>T) n.761G>T c.4966G>T (p.Ala1656Ser) c.5032G>T (p.Ala1678Ser) c.4957G>T (p.Ala1653Ser) n.2812G>T c.5089G>T (p.Ala1697Ser) c.5035G>T (p.Ala1679Ser) c.5050G>T (p.Ala1684Ser) c.4960G>T (p.Ala1654Ser) c.5085G>T n.3248G>T c.5158G>T (p.Ala1720Ser) n.3979G>T n.2416G>T n.2387G>T n.2277G>T c.4819G>T (p.Ala1607Ser) c.*4331G>T (n.*4331G>T) c.4855G>T (p.Ala1619Ser) n.2887G>T c.1346G>T n.2279G>T c.5218G>T (p.Ala1740Ser) c.5215G>T (p.Ala1739Ser) c.5107G>T (p.Ala1703Ser) c.5086G>T (p.Ala1696Ser) c.4432G>T (p.Ala1478Ser) c.5380G>T (p.Ala1794Ser) c.5128G>T (p.Ala1710Ser) c.3874G>T (p.Ala1292Ser) | ClinVar dbSNP |
16 | g.2088231C>A | CA394313855 | TSC2 | c.*3514C>A (n.*3514C>A) c.5012C>A (p.Ala1671Asp) c.5162C>A (p.Ala1721Asp) c.*5678C>A (n.*5678C>A) c.*7914C>A (n.*7914C>A) c.5165C>A (p.Ala1722Asp) c.5096C>A (p.Ala1699Asp) c.4964C>A (p.Ala1655Asp) c.4997C>A (p.Ala1666Asp) c.1388C>A n.3047C>A c.3819C>A c.5032-8C>A (n.5032-8C>A) n.762C>A c.4967C>A (p.Ala1656Asp) c.5033C>A (p.Ala1678Asp) c.4958C>A (p.Ala1653Asp) n.2813C>A c.5090C>A (p.Ala1697Asp) c.5036C>A (p.Ala1679Asp) c.5051C>A (p.Ala1684Asp) c.4961C>A (p.Ala1654Asp) c.5086C>A n.3249C>A c.5159C>A (p.Ala1720Asp) n.3980C>A n.2417C>A n.2388C>A n.2278C>A c.4820C>A (p.Ala1607Asp) c.*4332C>A (n.*4332C>A) c.4856C>A (p.Ala1619Asp) n.2888C>A c.1347C>A n.2280C>A c.5219C>A (p.Ala1740Asp) c.5216C>A (p.Ala1739Asp) c.5108C>A (p.Ala1703Asp) c.5087C>A (p.Ala1696Asp) c.4433C>A (p.Ala1478Asp) c.5381C>A (p.Ala1794Asp) c.5129C>A (p.Ala1710Asp) c.3875C>A (p.Ala1292Asp) | ClinVar dbSNP |
16 | g.2088231C= | CA2202031565 | TSC2 | c.*3514C= (n.*3514C=) c.5012C= (p.Ala1671=) c.5162C= (p.Ala1721=) c.*5678C= (n.*5678C=) c.*7914C= (n.*7914C=) c.5165C= (p.Ala1722=) c.5096C= (p.Ala1699=) c.4964C= (p.Ala1655=) c.4997C= (p.Ala1666=) c.1388C= n.3047C= c.3819C= c.5032-8C= (n.5032-8C=) n.762C= c.4967C= (p.Ala1656=) c.5033C= (p.Ala1678=) c.4958C= (p.Ala1653=) n.2813C= c.5090C= (p.Ala1697=) c.5036C= (p.Ala1679=) c.5051C= (p.Ala1684=) c.4961C= (p.Ala1654=) c.5086C= n.3249C= c.5159C= (p.Ala1720=) n.3980C= n.2417C= n.2388C= n.2278C= c.4820C= (p.Ala1607=) c.*4332C= (n.*4332C=) c.4856C= (p.Ala1619=) n.2888C= c.1347C= n.2280C= c.5219C= (p.Ala1740=) c.5216C= (p.Ala1739=) c.5108C= (p.Ala1703=) c.5087C= (p.Ala1696=) c.4433C= (p.Ala1478=) c.5381C= (p.Ala1794=) c.5129C= (p.Ala1710=) c.3875C= (p.Ala1292=) | |
16 | g.2088231C>G | CA394313859 | TSC2 | c.*3514C>G (n.*3514C>G) c.5012C>G (p.Ala1671Gly) c.5162C>G (p.Ala1721Gly) c.*5678C>G (n.*5678C>G) c.*7914C>G (n.*7914C>G) c.5165C>G (p.Ala1722Gly) c.5096C>G (p.Ala1699Gly) c.4964C>G (p.Ala1655Gly) c.4997C>G (p.Ala1666Gly) c.1388C>G n.3047C>G c.3819C>G c.5032-8C>G (n.5032-8C>G) n.762C>G c.4967C>G (p.Ala1656Gly) c.5033C>G (p.Ala1678Gly) c.4958C>G (p.Ala1653Gly) n.2813C>G c.5090C>G (p.Ala1697Gly) c.5036C>G (p.Ala1679Gly) c.5051C>G (p.Ala1684Gly) c.4961C>G (p.Ala1654Gly) c.5086C>G n.3249C>G c.5159C>G (p.Ala1720Gly) n.3980C>G n.2417C>G n.2388C>G n.2278C>G c.4820C>G (p.Ala1607Gly) c.*4332C>G (n.*4332C>G) c.4856C>G (p.Ala1619Gly) n.2888C>G c.1347C>G n.2280C>G c.5219C>G (p.Ala1740Gly) c.5216C>G (p.Ala1739Gly) c.5108C>G (p.Ala1703Gly) c.5087C>G (p.Ala1696Gly) c.4433C>G (p.Ala1478Gly) c.5381C>G (p.Ala1794Gly) c.5129C>G (p.Ala1710Gly) c.3875C>G (p.Ala1292Gly) | |
16 | g.2088231C>T | CA394313865 | TSC2 | c.*3514C>T (n.*3514C>T) c.5012C>T (p.Ala1671Val) c.5162C>T (p.Ala1721Val) c.*5678C>T (n.*5678C>T) c.*7914C>T (n.*7914C>T) c.5165C>T (p.Ala1722Val) c.5096C>T (p.Ala1699Val) c.4964C>T (p.Ala1655Val) c.4997C>T (p.Ala1666Val) c.1388C>T n.3047C>T c.3819C>T c.5032-8C>T (n.5032-8C>T) n.762C>T c.4967C>T (p.Ala1656Val) c.5033C>T (p.Ala1678Val) c.4958C>T (p.Ala1653Val) n.2813C>T c.5090C>T (p.Ala1697Val) c.5036C>T (p.Ala1679Val) c.5051C>T (p.Ala1684Val) c.4961C>T (p.Ala1654Val) c.5086C>T n.3249C>T c.5159C>T (p.Ala1720Val) n.3980C>T n.2417C>T n.2388C>T n.2278C>T c.4820C>T (p.Ala1607Val) c.*4332C>T (n.*4332C>T) c.4856C>T (p.Ala1619Val) n.2888C>T c.1347C>T n.2280C>T c.5219C>T (p.Ala1740Val) c.5216C>T (p.Ala1739Val) c.5108C>T (p.Ala1703Val) c.5087C>T (p.Ala1696Val) c.4433C>T (p.Ala1478Val) c.5381C>T (p.Ala1794Val) c.5129C>T (p.Ala1710Val) c.3875C>T (p.Ala1292Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088231_2088232del | CA2695221750 | TSC2 | c.*3514_*3515del (n.*3514_*3515del) c.5012_5013del (p.Ala1671ValfsTer6) c.5162_5163del (p.Ala1721ValfsTer6) c.*5678_*5679del (n.*5678_*5679del) c.*7914_*7915del (n.*7914_*7915del) c.5165_5166del (p.Ala1722ValfsTer6) c.5096_5097del (p.Ala1699ValfsTer6) c.4964_4965del (p.Ala1655ValfsTer6) c.4997_4998del (p.Ala1666ValfsTer6) c.1388_1389del n.3047_3048del c.3819_3820del c.5032-8_5032-7del (n.5032-8_5032-7del) n.762_763del c.4967_4968del (p.Ala1656ValfsTer6) c.5033_5034del (p.Ala1678ValfsTer6) c.4958_4959del (p.Ala1653ValfsTer6) n.2813_2814del c.5090_5091del (p.Ala1697ValfsTer6) c.5036_5037del (p.Ala1679ValfsTer6) c.5051_5052del (p.Ala1684ValfsTer6) c.4961_4962del (p.Ala1654ValfsTer6) c.5086_5087del n.3249_3250del c.5159_5160del (p.Ala1720ValfsTer6) n.3980_3981del n.2417_2418del n.2388_2389del n.2278_2279del c.4820_4821del (p.Ala1607ValfsTer6) c.*4332_*4333del (n.*4332_*4333del) c.4856_4857del (p.Ala1619ValfsTer6) n.2888_2889del c.1347_1348del n.2280_2281del c.5219_5220del (p.Ala1740ValfsTer6) c.5216_5217del (p.Ala1739ValfsTer6) c.5108_5109del (p.Ala1703ValfsTer6) c.5087_5088del (p.Ala1696ValfsTer6) c.4433_4434del (p.Ala1478ValfsTer6) c.5381_5382del (p.Ala1794ValfsTer6) c.5129_5130del (p.Ala1710ValfsTer6) c.3875_3876del (p.Ala1292ValfsTer6) | |
16 | g.2088232C>A | CA493043728 | TSC2 | c.*3515C>A (n.*3515C>A) c.5013C>A (p.Ala1671=) c.5163C>A (p.Ala1721=) c.*5679C>A (n.*5679C>A) c.*7915C>A (n.*7915C>A) c.5166C>A (p.Ala1722=) c.5097C>A (p.Ala1699=) c.4965C>A (p.Ala1655=) c.4998C>A (p.Ala1666=) c.1389C>A n.3048C>A c.3820C>A c.5032-7C>A (n.5032-7C>A) n.763C>A c.4968C>A (p.Ala1656=) c.5034C>A (p.Ala1678=) c.4959C>A (p.Ala1653=) n.2814C>A c.5091C>A (p.Ala1697=) c.5037C>A (p.Ala1679=) c.5052C>A (p.Ala1684=) c.4962C>A (p.Ala1654=) c.5087C>A n.3250C>A c.5160C>A (p.Ala1720=) n.3981C>A n.2418C>A n.2389C>A n.2279C>A c.4821C>A (p.Ala1607=) c.*4333C>A (n.*4333C>A) c.4857C>A (p.Ala1619=) n.2889C>A c.1348C>A n.2281C>A c.5220C>A (p.Ala1740=) c.5217C>A (p.Ala1739=) c.5109C>A (p.Ala1703=) c.5088C>A (p.Ala1696=) c.4434C>A (p.Ala1478=) c.5382C>A (p.Ala1794=) c.5130C>A (p.Ala1710=) c.3876C>A (p.Ala1292=) | ClinVar dbSNP |
16 | g.2088232C>G | CA493043729 | TSC2 | c.*3515C>G (n.*3515C>G) c.5013C>G (p.Ala1671=) c.5163C>G (p.Ala1721=) c.*5679C>G (n.*5679C>G) c.*7915C>G (n.*7915C>G) c.5166C>G (p.Ala1722=) c.5097C>G (p.Ala1699=) c.4965C>G (p.Ala1655=) c.4998C>G (p.Ala1666=) c.1389C>G n.3048C>G c.3820C>G c.5032-7C>G (n.5032-7C>G) n.763C>G c.4968C>G (p.Ala1656=) c.5034C>G (p.Ala1678=) c.4959C>G (p.Ala1653=) n.2814C>G c.5091C>G (p.Ala1697=) c.5037C>G (p.Ala1679=) c.5052C>G (p.Ala1684=) c.4962C>G (p.Ala1654=) c.5087C>G n.3250C>G c.5160C>G (p.Ala1720=) n.3981C>G n.2418C>G n.2389C>G n.2279C>G c.4821C>G (p.Ala1607=) c.*4333C>G (n.*4333C>G) c.4857C>G (p.Ala1619=) n.2889C>G c.1348C>G n.2281C>G c.5220C>G (p.Ala1740=) c.5217C>G (p.Ala1739=) c.5109C>G (p.Ala1703=) c.5088C>G (p.Ala1696=) c.4434C>G (p.Ala1478=) c.5382C>G (p.Ala1794=) c.5130C>G (p.Ala1710=) c.3876C>G (p.Ala1292=) | gnomAD v4 |
16 | g.2088232C>T | CA493043730 | TSC2 | c.*3515C>T (n.*3515C>T) c.5013C>T (p.Ala1671=) c.5163C>T (p.Ala1721=) c.*5679C>T (n.*5679C>T) c.*7915C>T (n.*7915C>T) c.5166C>T (p.Ala1722=) c.5097C>T (p.Ala1699=) c.4965C>T (p.Ala1655=) c.4998C>T (p.Ala1666=) c.1389C>T n.3048C>T c.3820C>T c.5032-7C>T (n.5032-7C>T) n.763C>T c.4968C>T (p.Ala1656=) c.5034C>T (p.Ala1678=) c.4959C>T (p.Ala1653=) n.2814C>T c.5091C>T (p.Ala1697=) c.5037C>T (p.Ala1679=) c.5052C>T (p.Ala1684=) c.4962C>T (p.Ala1654=) c.5087C>T n.3250C>T c.5160C>T (p.Ala1720=) n.3981C>T n.2418C>T n.2389C>T n.2279C>T c.4821C>T (p.Ala1607=) c.*4333C>T (n.*4333C>T) c.4857C>T (p.Ala1619=) n.2889C>T c.1348C>T n.2281C>T c.5220C>T (p.Ala1740=) c.5217C>T (p.Ala1739=) c.5109C>T (p.Ala1703=) c.5088C>T (p.Ala1696=) c.4434C>T (p.Ala1478=) c.5382C>T (p.Ala1794=) c.5130C>T (p.Ala1710=) c.3876C>T (p.Ala1292=) | dbSNP gnomAD v4 |
16 | g.2088232_2088247del | CA2695221751 | TSC2 | c.*3515_*3530del (n.*3515_*3530del) c.5013_5028del (p.Ser1672AlafsTer?) c.5163_5178del (p.Ser1722AlafsTer?) c.*5679_*5694del (n.*5679_*5694del) c.*7915_*7930del (n.*7915_*7930del) c.5166_5181del (p.Ser1723AlafsTer?) c.5097_5112del (p.Ser1700AlafsTer?) c.4965_4980del (p.Ser1656AlafsTer?) c.4998_5013del (p.Ser1667AlafsTer?) c.1389_1404del n.3048_3063del c.3820_3835del c.5032-7_5040del n.763_778del c.4968_4983del (p.Ser1657AlafsTer?) c.5034_5049del (p.Ser1679AlafsTer?) c.4959_4974del (p.Ser1654AlafsTer?) n.2814_2829del c.5091_5106del (p.Ser1698AlafsTer?) c.5037_5052del (p.Ser1680AlafsTer?) c.5052_5067del (p.Ser1685AlafsTer?) c.4962_4977del (p.Ser1655AlafsTer?) c.5087_5102del n.3250_3265del c.5160_5175del (p.Ser1721AlafsTer?) n.3981_3996del n.2418_2433del n.2389_2404del n.2279_2294del c.4821_4836del (p.Ser1608AlafsTer?) c.*4333_*4348del (n.*4333_*4348del) c.4857_4872del (p.Ser1620AlafsTer?) n.2889_2904del c.1348_1363del n.2281_2296del c.5220_5235del (p.Ser1741AlafsTer?) c.5217_5232del (p.Ser1740AlafsTer?) c.5109_5124del (p.Ser1704AlafsTer?) c.5088_5103del (p.Ser1697AlafsTer?) c.4434_4449del (p.Ser1479AlafsTer?) c.5382_5397del (p.Ser1795AlafsTer?) c.5130_5145del (p.Ser1711AlafsTer?) c.3876_3891del (p.Ser1293AlafsTer?) | |
16 | g.2088232_2088233insCTGCACGCAAATGTGAGTGGGGGTGGG | CA2554757955 | TSC2 | c.*3515_*3516insCTGCACGCAAATGTGAGTGGGGGTGGG (n.*3515_*3516insCTGCACGCAAATGTGAGTGGGGGTGGG) c.5013_5014insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1671_Ser1672insLeuHisAlaAsnValSerGlyGlyGly) c.5163_5164insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1721_Ser1722insLeuHisAlaAsnValSerGlyGlyGly) c.*5679_*5680insCTGCACGCAAATGTGAGTGGGGGTGGG (n.*5679_*5680insCTGCACGCAAATGTGAGTGGGGGTGGG) c.*7915_*7916insCTGCACGCAAATGTGAGTGGGGGTGGG (n.*7915_*7916insCTGCACGCAAATGTGAGTGGGGGTGGG) c.5166_5167insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1722_Ser1723insLeuHisAlaAsnValSerGlyGlyGly) c.5097_5098insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1699_Ser1700insLeuHisAlaAsnValSerGlyGlyGly) c.4965_4966insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1655_Ser1656insLeuHisAlaAsnValSerGlyGlyGly) c.4998_4999insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1666_Ser1667insLeuHisAlaAsnValSerGlyGlyGly) c.1389_1390insCTGCACGCAAATGTGAGTGGGGGTGGG n.3048_3049insCTGCACGCAAATGTGAGTGGGGGTGGG c.3820_3821insCTGCACGCAAATGTGAGTGGGGGTGGG c.5032-7_5032-6insCTGCACGCAAATGTGAGTGGGGGTGGG (n.5032-7_5032-6insCTGCACGCAAATGTGAGTGGGGGTGGG) n.763_764insCTGCACGCAAATGTGAGTGGGGGTGGG c.4968_4969insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1656_Ser1657insLeuHisAlaAsnValSerGlyGlyGly) c.5034_5035insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1678_Ser1679insLeuHisAlaAsnValSerGlyGlyGly) c.4959_4960insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1653_Ser1654insLeuHisAlaAsnValSerGlyGlyGly) n.2814_2815insCTGCACGCAAATGTGAGTGGGGGTGGG c.5091_5092insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1697_Ser1698insLeuHisAlaAsnValSerGlyGlyGly) c.5037_5038insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1679_Ser1680insLeuHisAlaAsnValSerGlyGlyGly) c.5052_5053insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1684_Ser1685insLeuHisAlaAsnValSerGlyGlyGly) c.4962_4963insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1654_Ser1655insLeuHisAlaAsnValSerGlyGlyGly) c.5087_5088insCTGCACGCAAATGTGAGTGGGGGTGGG n.3250_3251insCTGCACGCAAATGTGAGTGGGGGTGGG c.5160_5161insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1720_Ser1721insLeuHisAlaAsnValSerGlyGlyGly) n.3981_3982insCTGCACGCAAATGTGAGTGGGGGTGGG n.2418_2419insCTGCACGCAAATGTGAGTGGGGGTGGG n.2389_2390insCTGCACGCAAATGTGAGTGGGGGTGGG n.2279_2280insCTGCACGCAAATGTGAGTGGGGGTGGG c.4821_4822insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1607_Ser1608insLeuHisAlaAsnValSerGlyGlyGly) c.*4333_*4334insCTGCACGCAAATGTGAGTGGGGGTGGG (n.*4333_*4334insCTGCACGCAAATGTGAGTGGGGGTGGG) c.4857_4858insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1619_Ser1620insLeuHisAlaAsnValSerGlyGlyGly) n.2889_2890insCTGCACGCAAATGTGAGTGGGGGTGGG c.1348_1349insCTGCACGCAAATGTGAGTGGGGGTGGG n.2281_2282insCTGCACGCAAATGTGAGTGGGGGTGGG c.5220_5221insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1740_Ser1741insLeuHisAlaAsnValSerGlyGlyGly) c.5217_5218insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1739_Ser1740insLeuHisAlaAsnValSerGlyGlyGly) c.5109_5110insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1703_Ser1704insLeuHisAlaAsnValSerGlyGlyGly) c.5088_5089insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1696_Ser1697insLeuHisAlaAsnValSerGlyGlyGly) c.4434_4435insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1478_Ser1479insLeuHisAlaAsnValSerGlyGlyGly) c.5382_5383insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1794_Ser1795insLeuHisAlaAsnValSerGlyGlyGly) c.5130_5131insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1710_Ser1711insLeuHisAlaAsnValSerGlyGlyGly) c.3876_3877insCTGCACGCAAATGTGAGTGGGGGTGGG (p.Ala1292_Ser1293insLeuHisAlaAsnValSerGlyGlyGly) | |
16 | g.2088233T>A | CA394313868 | TSC2 | c.*3516T>A (n.*3516T>A) c.5014T>A (p.Ser1672Thr) c.5164T>A (p.Ser1722Thr) c.*5680T>A (n.*5680T>A) c.*7916T>A (n.*7916T>A) c.5167T>A (p.Ser1723Thr) c.5098T>A (p.Ser1700Thr) c.4966T>A (p.Ser1656Thr) c.4999T>A (p.Ser1667Thr) c.1390T>A n.3049T>A c.3821T>A c.5032-6T>A (n.5032-6T>A) n.764T>A c.4969T>A (p.Ser1657Thr) c.5035T>A (p.Ser1679Thr) c.4960T>A (p.Ser1654Thr) n.2815T>A c.5092T>A (p.Ser1698Thr) c.5038T>A (p.Ser1680Thr) c.5053T>A (p.Ser1685Thr) c.4963T>A (p.Ser1655Thr) c.5088T>A n.3251T>A c.5161T>A (p.Ser1721Thr) n.3982T>A n.2419T>A n.2390T>A n.2280T>A c.4822T>A (p.Ser1608Thr) c.*4334T>A (n.*4334T>A) c.4858T>A (p.Ser1620Thr) n.2890T>A c.1349T>A n.2282T>A c.5221T>A (p.Ser1741Thr) c.5218T>A (p.Ser1740Thr) c.5110T>A (p.Ser1704Thr) c.5089T>A (p.Ser1697Thr) c.4435T>A (p.Ser1479Thr) c.5383T>A (p.Ser1795Thr) c.5131T>A (p.Ser1711Thr) c.3877T>A (p.Ser1293Thr) | |
16 | g.2088233T>C | CA022058 | TSC2 | c.*3516T>C (n.*3516T>C) c.5014T>C (p.Ser1672Pro) c.5164T>C (p.Ser1722Pro) c.*5680T>C (n.*5680T>C) c.*7916T>C (n.*7916T>C) c.5167T>C (p.Ser1723Pro) c.5098T>C (p.Ser1700Pro) c.4966T>C (p.Ser1656Pro) c.4999T>C (p.Ser1667Pro) c.1390T>C n.3049T>C c.3821T>C c.5032-6T>C (n.5032-6T>C) n.764T>C c.4969T>C (p.Ser1657Pro) c.5035T>C (p.Ser1679Pro) c.4960T>C (p.Ser1654Pro) n.2815T>C c.5092T>C (p.Ser1698Pro) c.5038T>C (p.Ser1680Pro) c.5053T>C (p.Ser1685Pro) c.4963T>C (p.Ser1655Pro) c.5088T>C n.3251T>C c.5161T>C (p.Ser1721Pro) n.3982T>C n.2419T>C n.2390T>C n.2280T>C c.4822T>C (p.Ser1608Pro) c.*4334T>C (n.*4334T>C) c.4858T>C (p.Ser1620Pro) n.2890T>C c.1349T>C n.2282T>C c.5221T>C (p.Ser1741Pro) c.5218T>C (p.Ser1740Pro) c.5110T>C (p.Ser1704Pro) c.5089T>C (p.Ser1697Pro) c.4435T>C (p.Ser1479Pro) c.5383T>C (p.Ser1795Pro) c.5131T>C (p.Ser1711Pro) c.3877T>C (p.Ser1293Pro) | ClinVar dbSNP |
16 | g.2088233T>G | CA394313874 | TSC2 | c.*3516T>G (n.*3516T>G) c.5014T>G (p.Ser1672Ala) c.5164T>G (p.Ser1722Ala) c.*5680T>G (n.*5680T>G) c.*7916T>G (n.*7916T>G) c.5167T>G (p.Ser1723Ala) c.5098T>G (p.Ser1700Ala) c.4966T>G (p.Ser1656Ala) c.4999T>G (p.Ser1667Ala) c.1390T>G n.3049T>G c.3821T>G c.5032-6T>G (n.5032-6T>G) n.764T>G c.4969T>G (p.Ser1657Ala) c.5035T>G (p.Ser1679Ala) c.4960T>G (p.Ser1654Ala) n.2815T>G c.5092T>G (p.Ser1698Ala) c.5038T>G (p.Ser1680Ala) c.5053T>G (p.Ser1685Ala) c.4963T>G (p.Ser1655Ala) c.5088T>G n.3251T>G c.5161T>G (p.Ser1721Ala) n.3982T>G n.2419T>G n.2390T>G n.2280T>G c.4822T>G (p.Ser1608Ala) c.*4334T>G (n.*4334T>G) c.4858T>G (p.Ser1620Ala) n.2890T>G c.1349T>G n.2282T>G c.5221T>G (p.Ser1741Ala) c.5218T>G (p.Ser1740Ala) c.5110T>G (p.Ser1704Ala) c.5089T>G (p.Ser1697Ala) c.4435T>G (p.Ser1479Ala) c.5383T>G (p.Ser1795Ala) c.5131T>G (p.Ser1711Ala) c.3877T>G (p.Ser1293Ala) | |
16 | g.2088233T= | CA2202031575 | TSC2 | c.*3516T= (n.*3516T=) c.5014T= (p.Ser1672=) c.5164T= (p.Ser1722=) c.*5680T= (n.*5680T=) c.*7916T= (n.*7916T=) c.5167T= (p.Ser1723=) c.5098T= (p.Ser1700=) c.4966T= (p.Ser1656=) c.4999T= (p.Ser1667=) c.1390T= n.3049T= c.3821T= c.5032-6T= (n.5032-6T=) n.764T= c.4969T= (p.Ser1657=) c.5035T= (p.Ser1679=) c.4960T= (p.Ser1654=) n.2815T= c.5092T= (p.Ser1698=) c.5038T= (p.Ser1680=) c.5053T= (p.Ser1685=) c.4963T= (p.Ser1655=) c.5088T= n.3251T= c.5161T= (p.Ser1721=) n.3982T= n.2419T= n.2390T= n.2280T= c.4822T= (p.Ser1608=) c.*4334T= (n.*4334T=) c.4858T= (p.Ser1620=) n.2890T= c.1349T= n.2282T= c.5221T= (p.Ser1741=) c.5218T= (p.Ser1740=) c.5110T= (p.Ser1704=) c.5089T= (p.Ser1697=) c.4435T= (p.Ser1479=) c.5383T= (p.Ser1795=) c.5131T= (p.Ser1711=) c.3877T= (p.Ser1293=) | |
16 | g.2088233_2088235delinsTCA | CA2202031580 | TSC2 | c.*3516_*3518delinsTCA (n.*3516_*3518delinsTCA) c.5014_5016delinsTCA (p.Ser1672=) c.5164_5166delinsTCA (p.Ser1722=) c.*5680_*5682delinsTCA (n.*5680_*5682delinsTCA) c.*7916_*7918delinsTCA (n.*7916_*7918delinsTCA) c.5167_5169delinsTCA (p.Ser1723=) c.5098_5100delinsTCA (p.Ser1700=) c.4966_4968delinsTCA (p.Ser1656=) c.4999_5001delinsTCA (p.Ser1667=) c.1390_1392delinsTCA n.3049_3051delinsTCA c.3821_3823delinsTCA c.5032-6_5032-4delinsTCA (n.5032-6_5032-4delinsTCA) n.764_766delinsTCA c.4969_4971delinsTCA (p.Ser1657=) c.5035_5037delinsTCA (p.Ser1679=) c.4960_4962delinsTCA (p.Ser1654=) n.2815_2817delinsTCA c.5092_5094delinsTCA (p.Ser1698=) c.5038_5040delinsTCA (p.Ser1680=) c.5053_5055delinsTCA (p.Ser1685=) c.4963_4965delinsTCA (p.Ser1655=) c.5088_5090delinsTCA n.3251_3253delinsTCA c.5161_5163delinsTCA (p.Ser1721=) n.3982_3984delinsTCA n.2419_2421delinsTCA n.2390_2392delinsTCA n.2280_2282delinsTCA c.4822_4824delinsTCA (p.Ser1608=) c.*4334_*4336delinsTCA (n.*4334_*4336delinsTCA) c.4858_4860delinsTCA (p.Ser1620=) n.2890_2892delinsTCA c.1349_1351delinsTCA n.2282_2284delinsTCA c.5221_5223delinsTCA (p.Ser1741=) c.5218_5220delinsTCA (p.Ser1740=) c.5110_5112delinsTCA (p.Ser1704=) c.5089_5091delinsTCA (p.Ser1697=) c.4435_4437delinsTCA (p.Ser1479=) c.5383_5385delinsTCA (p.Ser1795=) c.5131_5133delinsTCA (p.Ser1711=) c.3877_3879delinsTCA (p.Ser1293=) | |
16 | g.2088233_2088234insTA | CA645572653 | TSC2 | c.*3516_*3517insTA (n.*3516_*3517insTA) c.5014_5015insTA (p.Ser1672LeufsTer?) c.5164_5165insTA (p.Ser1722LeufsTer?) c.*5680_*5681insTA (n.*5680_*5681insTA) c.*7916_*7917insTA (n.*7916_*7917insTA) c.5167_5168insTA (p.Ser1723LeufsTer?) c.5098_5099insTA (p.Ser1700LeufsTer?) c.4966_4967insTA (p.Ser1656LeufsTer?) c.4999_5000insTA (p.Ser1667LeufsTer?) c.1390_1391insTA n.3049_3050insTA c.3821_3822insTA c.5032-6_5032-5insTA (n.5032-6_5032-5insTA) n.764_765insTA c.4969_4970insTA (p.Ser1657LeufsTer?) c.5035_5036insTA (p.Ser1679LeufsTer?) c.4960_4961insTA (p.Ser1654LeufsTer?) n.2815_2816insTA c.5092_5093insTA (p.Ser1698LeufsTer?) c.5038_5039insTA (p.Ser1680LeufsTer?) c.5053_5054insTA (p.Ser1685LeufsTer?) c.4963_4964insTA (p.Ser1655LeufsTer?) c.5088_5089insTA n.3251_3252insTA c.5161_5162insTA (p.Ser1721LeufsTer?) n.3982_3983insTA n.2419_2420insTA n.2390_2391insTA n.2280_2281insTA c.4822_4823insTA (p.Ser1608LeufsTer?) c.*4334_*4335insTA (n.*4334_*4335insTA) c.4858_4859insTA (p.Ser1620LeufsTer?) n.2890_2891insTA c.1349_1350insTA n.2282_2283insTA c.5221_5222insTA (p.Ser1741LeufsTer?) c.5218_5219insTA (p.Ser1740LeufsTer?) c.5110_5111insTA (p.Ser1704LeufsTer?) c.5089_5090insTA (p.Ser1697LeufsTer?) c.4435_4436insTA (p.Ser1479LeufsTer?) c.5383_5384insTA (p.Ser1795LeufsTer?) c.5131_5132insTA (p.Ser1711LeufsTer?) c.3877_3878insTA (p.Ser1293LeufsTer?) | COSMIC COSMIC |
16 | g.2088234C>A | CA394313885 | TSC2 | c.*3517C>A (n.*3517C>A) c.5015C>A (p.Ser1672Ter) c.5165C>A (p.Ser1722Ter) c.*5681C>A (n.*5681C>A) c.*7917C>A (n.*7917C>A) c.5168C>A (p.Ser1723Ter) c.5099C>A (p.Ser1700Ter) c.4967C>A (p.Ser1656Ter) c.5000C>A (p.Ser1667Ter) c.1391C>A n.3050C>A c.3822C>A c.5032-5C>A (n.5032-5C>A) n.765C>A c.4970C>A (p.Ser1657Ter) c.5036C>A (p.Ser1679Ter) c.4961C>A (p.Ser1654Ter) n.2816C>A c.5093C>A (p.Ser1698Ter) c.5039C>A (p.Ser1680Ter) c.5054C>A (p.Ser1685Ter) c.4964C>A (p.Ser1655Ter) c.5089C>A n.3252C>A c.5162C>A (p.Ser1721Ter) n.3983C>A n.2420C>A n.2391C>A n.2281C>A c.4823C>A (p.Ser1608Ter) c.*4335C>A (n.*4335C>A) c.4859C>A (p.Ser1620Ter) n.2891C>A c.1350C>A n.2283C>A c.5222C>A (p.Ser1741Ter) c.5219C>A (p.Ser1740Ter) c.5111C>A (p.Ser1704Ter) c.5090C>A (p.Ser1697Ter) c.4436C>A (p.Ser1479Ter) c.5384C>A (p.Ser1795Ter) c.5132C>A (p.Ser1711Ter) c.3878C>A (p.Ser1293Ter) | |
16 | g.2088234C= | CA2202031588 | TSC2 | c.*3517C= (n.*3517C=) c.5015C= (p.Ser1672=) c.5165C= (p.Ser1722=) c.*5681C= (n.*5681C=) c.*7917C= (n.*7917C=) c.5168C= (p.Ser1723=) c.5099C= (p.Ser1700=) c.4967C= (p.Ser1656=) c.5000C= (p.Ser1667=) c.1391C= n.3050C= c.3822C= c.5032-5C= (n.5032-5C=) n.765C= c.4970C= (p.Ser1657=) c.5036C= (p.Ser1679=) c.4961C= (p.Ser1654=) n.2816C= c.5093C= (p.Ser1698=) c.5039C= (p.Ser1680=) c.5054C= (p.Ser1685=) c.4964C= (p.Ser1655=) c.5089C= n.3252C= c.5162C= (p.Ser1721=) n.3983C= n.2420C= n.2391C= n.2281C= c.4823C= (p.Ser1608=) c.*4335C= (n.*4335C=) c.4859C= (p.Ser1620=) n.2891C= c.1350C= n.2283C= c.5222C= (p.Ser1741=) c.5219C= (p.Ser1740=) c.5111C= (p.Ser1704=) c.5090C= (p.Ser1697=) c.4436C= (p.Ser1479=) c.5384C= (p.Ser1795=) c.5132C= (p.Ser1711=) c.3878C= (p.Ser1293=) | |
16 | g.2088234C>G | CA16609418 | TSC2 | c.*3517C>G (n.*3517C>G) c.5015C>G (p.Ser1672Ter) c.5165C>G (p.Ser1722Ter) c.*5681C>G (n.*5681C>G) c.*7917C>G (n.*7917C>G) c.5168C>G (p.Ser1723Ter) c.5099C>G (p.Ser1700Ter) c.4967C>G (p.Ser1656Ter) c.5000C>G (p.Ser1667Ter) c.1391C>G n.3050C>G c.3822C>G c.5032-5C>G (n.5032-5C>G) n.765C>G c.4970C>G (p.Ser1657Ter) c.5036C>G (p.Ser1679Ter) c.4961C>G (p.Ser1654Ter) n.2816C>G c.5093C>G (p.Ser1698Ter) c.5039C>G (p.Ser1680Ter) c.5054C>G (p.Ser1685Ter) c.4964C>G (p.Ser1655Ter) c.5089C>G n.3252C>G c.5162C>G (p.Ser1721Ter) n.3983C>G n.2420C>G n.2391C>G n.2281C>G c.4823C>G (p.Ser1608Ter) c.*4335C>G (n.*4335C>G) c.4859C>G (p.Ser1620Ter) n.2891C>G c.1350C>G n.2283C>G c.5222C>G (p.Ser1741Ter) c.5219C>G (p.Ser1740Ter) c.5111C>G (p.Ser1704Ter) c.5090C>G (p.Ser1697Ter) c.4436C>G (p.Ser1479Ter) c.5384C>G (p.Ser1795Ter) c.5132C>G (p.Ser1711Ter) c.3878C>G (p.Ser1293Ter) | ClinVar dbSNP |
16 | g.2088234C>T | CA394313901 | TSC2 | c.*3517C>T (n.*3517C>T) c.5015C>T (p.Ser1672Leu) c.5165C>T (p.Ser1722Leu) c.*5681C>T (n.*5681C>T) c.*7917C>T (n.*7917C>T) c.5168C>T (p.Ser1723Leu) c.5099C>T (p.Ser1700Leu) c.4967C>T (p.Ser1656Leu) c.5000C>T (p.Ser1667Leu) c.1391C>T n.3050C>T c.3822C>T c.5032-5C>T (n.5032-5C>T) n.765C>T c.4970C>T (p.Ser1657Leu) c.5036C>T (p.Ser1679Leu) c.4961C>T (p.Ser1654Leu) n.2816C>T c.5093C>T (p.Ser1698Leu) c.5039C>T (p.Ser1680Leu) c.5054C>T (p.Ser1685Leu) c.4964C>T (p.Ser1655Leu) c.5089C>T n.3252C>T c.5162C>T (p.Ser1721Leu) n.3983C>T n.2420C>T n.2391C>T n.2281C>T c.4823C>T (p.Ser1608Leu) c.*4335C>T (n.*4335C>T) c.4859C>T (p.Ser1620Leu) n.2891C>T c.1350C>T n.2283C>T c.5222C>T (p.Ser1741Leu) c.5219C>T (p.Ser1740Leu) c.5111C>T (p.Ser1704Leu) c.5090C>T (p.Ser1697Leu) c.4436C>T (p.Ser1479Leu) c.5384C>T (p.Ser1795Leu) c.5132C>T (p.Ser1711Leu) c.3878C>T (p.Ser1293Leu) | ClinVar |
16 | g.2088236_2088237del | CA022061 | TSC2 | c.*3519_*3520del (n.*3519_*3520del) c.5017_5018del (p.Gln1673GlyfsTer4) c.5167_5168del (p.Gln1723GlyfsTer4) c.*5683_*5684del (n.*5683_*5684del) c.*7919_*7920del (n.*7919_*7920del) c.5170_5171del (p.Gln1724GlyfsTer4) c.5101_5102del (p.Gln1701GlyfsTer4) c.4969_4970del (p.Gln1657GlyfsTer4) c.5002_5003del (p.Gln1668GlyfsTer4) c.1393_1394del n.3052_3053del c.3824_3825del c.5032-3_5032-2del (n.5032-3_5032-2del) n.767_768del c.4972_4973del (p.Gln1658GlyfsTer4) c.5038_5039del (p.Gln1680GlyfsTer4) c.4963_4964del (p.Gln1655GlyfsTer4) n.2818_2819del c.5095_5096del (p.Gln1699GlyfsTer4) c.5041_5042del (p.Gln1681GlyfsTer4) c.5056_5057del (p.Gln1686GlyfsTer4) c.4966_4967del (p.Gln1656GlyfsTer4) c.5091_5092del n.3254_3255del c.5164_5165del (p.Gln1722GlyfsTer4) n.3985_3986del n.2422_2423del n.2393_2394del n.2283_2284del c.4825_4826del (p.Gln1609GlyfsTer4) c.*4337_*4338del (n.*4337_*4338del) c.4861_4862del (p.Gln1621GlyfsTer4) n.2893_2894del c.1352_1353del n.2285_2286del c.5224_5225del (p.Gln1742GlyfsTer4) c.5221_5222del (p.Gln1741GlyfsTer4) c.5113_5114del (p.Gln1705GlyfsTer4) c.5092_5093del (p.Gln1698GlyfsTer4) c.4438_4439del (p.Gln1480GlyfsTer4) c.5386_5387del (p.Gln1796GlyfsTer4) c.5134_5135del (p.Gln1712GlyfsTer4) c.3880_3881del (p.Gln1294GlyfsTer4) | ClinVar dbSNP |
16 | g.2088235A= | CA2202031597 | TSC2 | c.*3518A= (n.*3518A=) c.5016A= (p.Ser1672=) c.5166A= (p.Ser1722=) c.*5682A= (n.*5682A=) c.*7918A= (n.*7918A=) c.5169A= (p.Ser1723=) c.5100A= (p.Ser1700=) c.4968A= (p.Ser1656=) c.5001A= (p.Ser1667=) c.1392A= n.3051A= c.3823A= c.5032-4A= (n.5032-4A=) n.766A= c.4971A= (p.Ser1657=) c.5037A= (p.Ser1679=) c.4962A= (p.Ser1654=) n.2817A= c.5094A= (p.Ser1698=) c.5040A= (p.Ser1680=) c.5055A= (p.Ser1685=) c.4965A= (p.Ser1655=) c.5090A= n.3253A= c.5163A= (p.Ser1721=) n.3984A= n.2421A= n.2392A= n.2282A= c.4824A= (p.Ser1608=) c.*4336A= (n.*4336A=) c.4860A= (p.Ser1620=) n.2892A= c.1351A= n.2284A= c.5223A= (p.Ser1741=) c.5220A= (p.Ser1740=) c.5112A= (p.Ser1704=) c.5091A= (p.Ser1697=) c.4437A= (p.Ser1479=) c.5385A= (p.Ser1795=) c.5133A= (p.Ser1711=) c.3879A= (p.Ser1293=) | |
16 | g.2088235A>C | CA493043735 | TSC2 | c.*3518A>C (n.*3518A>C) c.5016A>C (p.Ser1672=) c.5166A>C (p.Ser1722=) c.*5682A>C (n.*5682A>C) c.*7918A>C (n.*7918A>C) c.5169A>C (p.Ser1723=) c.5100A>C (p.Ser1700=) c.4968A>C (p.Ser1656=) c.5001A>C (p.Ser1667=) c.1392A>C n.3051A>C c.3823A>C c.5032-4A>C (n.5032-4A>C) n.766A>C c.4971A>C (p.Ser1657=) c.5037A>C (p.Ser1679=) c.4962A>C (p.Ser1654=) n.2817A>C c.5094A>C (p.Ser1698=) c.5040A>C (p.Ser1680=) c.5055A>C (p.Ser1685=) c.4965A>C (p.Ser1655=) c.5090A>C n.3253A>C c.5163A>C (p.Ser1721=) n.3984A>C n.2421A>C n.2392A>C n.2282A>C c.4824A>C (p.Ser1608=) c.*4336A>C (n.*4336A>C) c.4860A>C (p.Ser1620=) n.2892A>C c.1351A>C n.2284A>C c.5223A>C (p.Ser1741=) c.5220A>C (p.Ser1740=) c.5112A>C (p.Ser1704=) c.5091A>C (p.Ser1697=) c.4437A>C (p.Ser1479=) c.5385A>C (p.Ser1795=) c.5133A>C (p.Ser1711=) c.3879A>C (p.Ser1293=) | dbSNP |
16 | g.2088235A>G | CA493043736 | TSC2 | c.*3518A>G (n.*3518A>G) c.5016A>G (p.Ser1672=) c.5166A>G (p.Ser1722=) c.*5682A>G (n.*5682A>G) c.*7918A>G (n.*7918A>G) c.5169A>G (p.Ser1723=) c.5100A>G (p.Ser1700=) c.4968A>G (p.Ser1656=) c.5001A>G (p.Ser1667=) c.1392A>G n.3051A>G c.3823A>G c.5032-4A>G (n.5032-4A>G) n.766A>G c.4971A>G (p.Ser1657=) c.5037A>G (p.Ser1679=) c.4962A>G (p.Ser1654=) n.2817A>G c.5094A>G (p.Ser1698=) c.5040A>G (p.Ser1680=) c.5055A>G (p.Ser1685=) c.4965A>G (p.Ser1655=) c.5090A>G n.3253A>G c.5163A>G (p.Ser1721=) n.3984A>G n.2421A>G n.2392A>G n.2282A>G c.4824A>G (p.Ser1608=) c.*4336A>G (n.*4336A>G) c.4860A>G (p.Ser1620=) n.2892A>G c.1351A>G n.2284A>G c.5223A>G (p.Ser1741=) c.5220A>G (p.Ser1740=) c.5112A>G (p.Ser1704=) c.5091A>G (p.Ser1697=) c.4437A>G (p.Ser1479=) c.5385A>G (p.Ser1795=) c.5133A>G (p.Ser1711=) c.3879A>G (p.Ser1293=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088235A>T | CA493043734 | TSC2 | c.*3518A>T (n.*3518A>T) c.5016A>T (p.Ser1672=) c.5166A>T (p.Ser1722=) c.*5682A>T (n.*5682A>T) c.*7918A>T (n.*7918A>T) c.5169A>T (p.Ser1723=) c.5100A>T (p.Ser1700=) c.4968A>T (p.Ser1656=) c.5001A>T (p.Ser1667=) c.1392A>T n.3051A>T c.3823A>T c.5032-4A>T (n.5032-4A>T) n.766A>T c.4971A>T (p.Ser1657=) c.5037A>T (p.Ser1679=) c.4962A>T (p.Ser1654=) n.2817A>T c.5094A>T (p.Ser1698=) c.5040A>T (p.Ser1680=) c.5055A>T (p.Ser1685=) c.4965A>T (p.Ser1655=) c.5090A>T n.3253A>T c.5163A>T (p.Ser1721=) n.3984A>T n.2421A>T n.2392A>T n.2282A>T c.4824A>T (p.Ser1608=) c.*4336A>T (n.*4336A>T) c.4860A>T (p.Ser1620=) n.2892A>T c.1351A>T n.2284A>T c.5223A>T (p.Ser1741=) c.5220A>T (p.Ser1740=) c.5112A>T (p.Ser1704=) c.5091A>T (p.Ser1697=) c.4437A>T (p.Ser1479=) c.5385A>T (p.Ser1795=) c.5133A>T (p.Ser1711=) c.3879A>T (p.Ser1293=) | dbSNP |
16 | g.2088235dup | CA658798499 | TSC2 | c.*3518dup (n.*3518dup) c.5016dup (p.Gln1673ThrfsTer5) c.5166dup (p.Gln1723ThrfsTer5) c.*5682dup (n.*5682dup) c.*7918dup (n.*7918dup) c.5169dup (p.Gln1724ThrfsTer5) c.5100dup (p.Gln1701ThrfsTer5) c.4968dup (p.Gln1657ThrfsTer5) c.5001dup (p.Gln1668ThrfsTer5) c.1392dup n.3051dup c.3823dup c.5032-4dup (n.5032-4dup) n.766dup c.4971dup (p.Gln1658ThrfsTer5) c.5037dup (p.Gln1680ThrfsTer5) c.4962dup (p.Gln1655ThrfsTer5) n.2817dup c.5094dup (p.Gln1699ThrfsTer5) c.5040dup (p.Gln1681ThrfsTer5) c.5055dup (p.Gln1686ThrfsTer5) c.4965dup (p.Gln1656ThrfsTer5) c.5090dup n.3253dup c.5163dup (p.Gln1722ThrfsTer5) n.3984dup n.2421dup n.2392dup n.2282dup c.4824dup (p.Gln1609ThrfsTer5) c.*4336dup (n.*4336dup) c.4860dup (p.Gln1621ThrfsTer5) n.2892dup c.1351dup n.2284dup c.5223dup (p.Gln1742ThrfsTer5) c.5220dup (p.Gln1741ThrfsTer5) c.5112dup (p.Gln1705ThrfsTer5) c.5091dup (p.Gln1698ThrfsTer5) c.4437dup (p.Gln1480ThrfsTer5) c.5385dup (p.Gln1796ThrfsTer5) c.5133dup (p.Gln1712ThrfsTer5) c.3879dup (p.Gln1294ThrfsTer5) | ClinVar dbSNP |
16 | g.2088236C>A | CA394313908 | TSC2 | c.*3519C>A (n.*3519C>A) c.5017C>A (p.Gln1673Lys) c.5167C>A (p.Gln1723Lys) c.*5683C>A (n.*5683C>A) c.*7919C>A (n.*7919C>A) c.5170C>A (p.Gln1724Lys) c.5101C>A (p.Gln1701Lys) c.4969C>A (p.Gln1657Lys) c.5002C>A (p.Gln1668Lys) c.1393C>A n.3052C>A c.3824C>A c.5032-3C>A (n.5032-3C>A) n.767C>A c.4972C>A (p.Gln1658Lys) c.5038C>A (p.Gln1680Lys) c.4963C>A (p.Gln1655Lys) n.2818C>A c.5095C>A (p.Gln1699Lys) c.5041C>A (p.Gln1681Lys) c.5056C>A (p.Gln1686Lys) c.4966C>A (p.Gln1656Lys) c.5091C>A n.3254C>A c.5164C>A (p.Gln1722Lys) n.3985C>A n.2422C>A n.2393C>A n.2283C>A c.4825C>A (p.Gln1609Lys) c.*4337C>A (n.*4337C>A) c.4861C>A (p.Gln1621Lys) n.2893C>A c.1352C>A n.2285C>A c.5224C>A (p.Gln1742Lys) c.5221C>A (p.Gln1741Lys) c.5113C>A (p.Gln1705Lys) c.5092C>A (p.Gln1698Lys) c.4438C>A (p.Gln1480Lys) c.5386C>A (p.Gln1796Lys) c.5134C>A (p.Gln1712Lys) c.3880C>A (p.Gln1294Lys) | ClinVar dbSNP |
16 | g.2088236C= | CA2202031604 | TSC2 | c.*3519C= (n.*3519C=) c.5017C= (p.Gln1673=) c.5167C= (p.Gln1723=) c.*5683C= (n.*5683C=) c.*7919C= (n.*7919C=) c.5170C= (p.Gln1724=) c.5101C= (p.Gln1701=) c.4969C= (p.Gln1657=) c.5002C= (p.Gln1668=) c.1393C= n.3052C= c.3824C= c.5032-3C= (n.5032-3C=) n.767C= c.4972C= (p.Gln1658=) c.5038C= (p.Gln1680=) c.4963C= (p.Gln1655=) n.2818C= c.5095C= (p.Gln1699=) c.5041C= (p.Gln1681=) c.5056C= (p.Gln1686=) c.4966C= (p.Gln1656=) c.5091C= n.3254C= c.5164C= (p.Gln1722=) n.3985C= n.2422C= n.2393C= n.2283C= c.4825C= (p.Gln1609=) c.*4337C= (n.*4337C=) c.4861C= (p.Gln1621=) n.2893C= c.1352C= n.2285C= c.5224C= (p.Gln1742=) c.5221C= (p.Gln1741=) c.5113C= (p.Gln1705=) c.5092C= (p.Gln1698=) c.4438C= (p.Gln1480=) c.5386C= (p.Gln1796=) c.5134C= (p.Gln1712=) c.3880C= (p.Gln1294=) | |
16 | g.2088236C>G | CA394313923 | TSC2 | c.*3519C>G (n.*3519C>G) c.5017C>G (p.Gln1673Glu) c.5167C>G (p.Gln1723Glu) c.*5683C>G (n.*5683C>G) c.*7919C>G (n.*7919C>G) c.5170C>G (p.Gln1724Glu) c.5101C>G (p.Gln1701Glu) c.4969C>G (p.Gln1657Glu) c.5002C>G (p.Gln1668Glu) c.1393C>G n.3052C>G c.3824C>G c.5032-3C>G (n.5032-3C>G) n.767C>G c.4972C>G (p.Gln1658Glu) c.5038C>G (p.Gln1680Glu) c.4963C>G (p.Gln1655Glu) n.2818C>G c.5095C>G (p.Gln1699Glu) c.5041C>G (p.Gln1681Glu) c.5056C>G (p.Gln1686Glu) c.4966C>G (p.Gln1656Glu) c.5091C>G n.3254C>G c.5164C>G (p.Gln1722Glu) n.3985C>G n.2422C>G n.2393C>G n.2283C>G c.4825C>G (p.Gln1609Glu) c.*4337C>G (n.*4337C>G) c.4861C>G (p.Gln1621Glu) n.2893C>G c.1352C>G n.2285C>G c.5224C>G (p.Gln1742Glu) c.5221C>G (p.Gln1741Glu) c.5113C>G (p.Gln1705Glu) c.5092C>G (p.Gln1698Glu) c.4438C>G (p.Gln1480Glu) c.5386C>G (p.Gln1796Glu) c.5134C>G (p.Gln1712Glu) c.3880C>G (p.Gln1294Glu) | ClinVar dbSNP |
16 | g.2088236C>T | CA022073 | TSC2 | c.*3519C>T (n.*3519C>T) c.5017C>T (p.Gln1673Ter) c.5167C>T (p.Gln1723Ter) c.*5683C>T (n.*5683C>T) c.*7919C>T (n.*7919C>T) c.5170C>T (p.Gln1724Ter) c.5101C>T (p.Gln1701Ter) c.4969C>T (p.Gln1657Ter) c.5002C>T (p.Gln1668Ter) c.1393C>T n.3052C>T c.3824C>T c.5032-3C>T (n.5032-3C>T) n.767C>T c.4972C>T (p.Gln1658Ter) c.5038C>T (p.Gln1680Ter) c.4963C>T (p.Gln1655Ter) n.2818C>T c.5095C>T (p.Gln1699Ter) c.5041C>T (p.Gln1681Ter) c.5056C>T (p.Gln1686Ter) c.4966C>T (p.Gln1656Ter) c.5091C>T n.3254C>T c.5164C>T (p.Gln1722Ter) n.3985C>T n.2422C>T n.2393C>T n.2283C>T c.4825C>T (p.Gln1609Ter) c.*4337C>T (n.*4337C>T) c.4861C>T (p.Gln1621Ter) n.2893C>T c.1352C>T n.2285C>T c.5224C>T (p.Gln1742Ter) c.5221C>T (p.Gln1741Ter) c.5113C>T (p.Gln1705Ter) c.5092C>T (p.Gln1698Ter) c.4438C>T (p.Gln1480Ter) c.5386C>T (p.Gln1796Ter) c.5134C>T (p.Gln1712Ter) c.3880C>T (p.Gln1294Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.2088236_2088237insTTTTTTTTTTT | CA2631118460 | TSC2 | c.*3519_*3520insTTTTTTTTTTT (n.*3519_*3520insTTTTTTTTTTT) c.5017_5018insTTTTTTTTTTT (p.Gln1673LeufsTer?) c.5167_5168insTTTTTTTTTTT (p.Gln1723LeufsTer?) c.*5683_*5684insTTTTTTTTTTT (n.*5683_*5684insTTTTTTTTTTT) c.*7919_*7920insTTTTTTTTTTT (n.*7919_*7920insTTTTTTTTTTT) c.5170_5171insTTTTTTTTTTT (p.Gln1724LeufsTer?) c.5101_5102insTTTTTTTTTTT (p.Gln1701LeufsTer?) c.4969_4970insTTTTTTTTTTT (p.Gln1657LeufsTer?) c.5002_5003insTTTTTTTTTTT (p.Gln1668LeufsTer?) c.1393_1394insTTTTTTTTTTT n.3052_3053insTTTTTTTTTTT c.3824_3825insTTTTTTTTTTT c.5032-3_5032-2insTTTTTTTTTTT (n.5032-3_5032-2insTTTTTTTTTTT) n.767_768insTTTTTTTTTTT c.4972_4973insTTTTTTTTTTT (p.Gln1658LeufsTer?) c.5038_5039insTTTTTTTTTTT (p.Gln1680LeufsTer?) c.4963_4964insTTTTTTTTTTT (p.Gln1655LeufsTer?) n.2818_2819insTTTTTTTTTTT c.5095_5096insTTTTTTTTTTT (p.Gln1699LeufsTer?) c.5041_5042insTTTTTTTTTTT (p.Gln1681LeufsTer?) c.5056_5057insTTTTTTTTTTT (p.Gln1686LeufsTer?) c.4966_4967insTTTTTTTTTTT (p.Gln1656LeufsTer?) c.5091_5092insTTTTTTTTTTT n.3254_3255insTTTTTTTTTTT c.5164_5165insTTTTTTTTTTT (p.Gln1722LeufsTer?) n.3985_3986insTTTTTTTTTTT n.2422_2423insTTTTTTTTTTT n.2393_2394insTTTTTTTTTTT n.2283_2284insTTTTTTTTTTT c.4825_4826insTTTTTTTTTTT (p.Gln1609LeufsTer?) c.*4337_*4338insTTTTTTTTTTT (n.*4337_*4338insTTTTTTTTTTT) c.4861_4862insTTTTTTTTTTT (p.Gln1621LeufsTer?) n.2893_2894insTTTTTTTTTTT c.1352_1353insTTTTTTTTTTT n.2285_2286insTTTTTTTTTTT c.5224_5225insTTTTTTTTTTT (p.Gln1742LeufsTer?) c.5221_5222insTTTTTTTTTTT (p.Gln1741LeufsTer?) c.5113_5114insTTTTTTTTTTT (p.Gln1705LeufsTer?) c.5092_5093insTTTTTTTTTTT (p.Gln1698LeufsTer?) c.4438_4439insTTTTTTTTTTT (p.Gln1480LeufsTer?) c.5386_5387insTTTTTTTTTTT (p.Gln1796LeufsTer?) c.5134_5135insTTTTTTTTTTT (p.Gln1712LeufsTer?) c.3880_3881insTTTTTTTTTTT (p.Gln1294LeufsTer?) | gnomAD v4 |
16 | g.2088237A= | CA2202031620 | TSC2 | c.*3520A= (n.*3520A=) c.5018A= (p.Gln1673=) c.5168A= (p.Gln1723=) c.*5684A= (n.*5684A=) c.*7920A= (n.*7920A=) c.5171A= (p.Gln1724=) c.5102A= (p.Gln1701=) c.4970A= (p.Gln1657=) c.5003A= (p.Gln1668=) c.1394A= n.3053A= c.3825A= c.5032-2A= (n.5032-2A=) n.768A= c.4973A= (p.Gln1658=) c.5039A= (p.Gln1680=) c.4964A= (p.Gln1655=) n.2819A= c.5096A= (p.Gln1699=) c.5042A= (p.Gln1681=) c.5057A= (p.Gln1686=) c.4967A= (p.Gln1656=) c.5092A= n.3255A= c.5165A= (p.Gln1722=) n.3986A= n.2423A= n.2394A= n.2284A= c.4826A= (p.Gln1609=) c.*4338A= (n.*4338A=) c.4862A= (p.Gln1621=) n.2894A= c.1353A= n.2286A= c.5225A= (p.Gln1742=) c.5222A= (p.Gln1741=) c.5114A= (p.Gln1705=) c.5093A= (p.Gln1698=) c.4439A= (p.Gln1480=) c.5387A= (p.Gln1796=) c.5135A= (p.Gln1712=) c.3881A= (p.Gln1294=) | |
16 | g.2088237A>C | CA394313925 | TSC2 | c.*3520A>C (n.*3520A>C) c.5018A>C (p.Gln1673Pro) c.5168A>C (p.Gln1723Pro) c.*5684A>C (n.*5684A>C) c.*7920A>C (n.*7920A>C) c.5171A>C (p.Gln1724Pro) c.5102A>C (p.Gln1701Pro) c.4970A>C (p.Gln1657Pro) c.5003A>C (p.Gln1668Pro) c.1394A>C n.3053A>C c.3825A>C c.5032-2A>C (n.5032-2A>C) n.768A>C c.4973A>C (p.Gln1658Pro) c.5039A>C (p.Gln1680Pro) c.4964A>C (p.Gln1655Pro) n.2819A>C c.5096A>C (p.Gln1699Pro) c.5042A>C (p.Gln1681Pro) c.5057A>C (p.Gln1686Pro) c.4967A>C (p.Gln1656Pro) c.5092A>C n.3255A>C c.5165A>C (p.Gln1722Pro) n.3986A>C n.2423A>C n.2394A>C n.2284A>C c.4826A>C (p.Gln1609Pro) c.*4338A>C (n.*4338A>C) c.4862A>C (p.Gln1621Pro) n.2894A>C c.1353A>C n.2286A>C c.5225A>C (p.Gln1742Pro) c.5222A>C (p.Gln1741Pro) c.5114A>C (p.Gln1705Pro) c.5093A>C (p.Gln1698Pro) c.4439A>C (p.Gln1480Pro) c.5387A>C (p.Gln1796Pro) c.5135A>C (p.Gln1712Pro) c.3881A>C (p.Gln1294Pro) | ClinVar dbSNP |
16 | g.2088237A>G | CA276759308 | TSC2 | c.*3520A>G (n.*3520A>G) c.5018A>G (p.Gln1673Arg) c.5168A>G (p.Gln1723Arg) c.*5684A>G (n.*5684A>G) c.*7920A>G (n.*7920A>G) c.5171A>G (p.Gln1724Arg) c.5102A>G (p.Gln1701Arg) c.4970A>G (p.Gln1657Arg) c.5003A>G (p.Gln1668Arg) c.1394A>G n.3053A>G c.3825A>G c.5032-2A>G (n.5032-2A>G) n.768A>G c.4973A>G (p.Gln1658Arg) c.5039A>G (p.Gln1680Arg) c.4964A>G (p.Gln1655Arg) n.2819A>G c.5096A>G (p.Gln1699Arg) c.5042A>G (p.Gln1681Arg) c.5057A>G (p.Gln1686Arg) c.4967A>G (p.Gln1656Arg) c.5092A>G n.3255A>G c.5165A>G (p.Gln1722Arg) n.3986A>G n.2423A>G n.2394A>G n.2284A>G c.4826A>G (p.Gln1609Arg) c.*4338A>G (n.*4338A>G) c.4862A>G (p.Gln1621Arg) n.2894A>G c.1353A>G n.2286A>G c.5225A>G (p.Gln1742Arg) c.5222A>G (p.Gln1741Arg) c.5114A>G (p.Gln1705Arg) c.5093A>G (p.Gln1698Arg) c.4439A>G (p.Gln1480Arg) c.5387A>G (p.Gln1796Arg) c.5135A>G (p.Gln1712Arg) c.3881A>G (p.Gln1294Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.2088237A>T | CA394313932 | TSC2 | c.*3520A>T (n.*3520A>T) c.5018A>T (p.Gln1673Leu) c.5168A>T (p.Gln1723Leu) c.*5684A>T (n.*5684A>T) c.*7920A>T (n.*7920A>T) c.5171A>T (p.Gln1724Leu) c.5102A>T (p.Gln1701Leu) c.4970A>T (p.Gln1657Leu) c.5003A>T (p.Gln1668Leu) c.1394A>T n.3053A>T c.3825A>T c.5032-2A>T (n.5032-2A>T) n.768A>T c.4973A>T (p.Gln1658Leu) c.5039A>T (p.Gln1680Leu) c.4964A>T (p.Gln1655Leu) n.2819A>T c.5096A>T (p.Gln1699Leu) c.5042A>T (p.Gln1681Leu) c.5057A>T (p.Gln1686Leu) c.4967A>T (p.Gln1656Leu) c.5092A>T n.3255A>T c.5165A>T (p.Gln1722Leu) n.3986A>T n.2423A>T n.2394A>T n.2284A>T c.4826A>T (p.Gln1609Leu) c.*4338A>T (n.*4338A>T) c.4862A>T (p.Gln1621Leu) n.2894A>T c.1353A>T n.2286A>T c.5225A>T (p.Gln1742Leu) c.5222A>T (p.Gln1741Leu) c.5114A>T (p.Gln1705Leu) c.5093A>T (p.Gln1698Leu) c.4439A>T (p.Gln1480Leu) c.5387A>T (p.Gln1796Leu) c.5135A>T (p.Gln1712Leu) c.3881A>T (p.Gln1294Leu) | |
16 | g.2088237_2088238delinsAG | CA2202031618 | TSC2 | c.*3520_*3521delinsAG (n.*3520_*3521delinsAG) c.5018_5019delinsAG (p.Gln1673=) c.5168_5169delinsAG (p.Gln1723=) c.*5684_*5685delinsAG (n.*5684_*5685delinsAG) c.*7920_*7921delinsAG (n.*7920_*7921delinsAG) c.5171_5172delinsAG (p.Gln1724=) c.5102_5103delinsAG (p.Gln1701=) c.4970_4971delinsAG (p.Gln1657=) c.5003_5004delinsAG (p.Gln1668=) c.1394_1395delinsAG n.3053_3054delinsAG c.3825_3826delinsAG c.5032-2_5032-1delinsAG (n.5032-2_5032-1delinsAG) n.768_769delinsAG c.4973_4974delinsAG (p.Gln1658=) c.5039_5040delinsAG (p.Gln1680=) c.4964_4965delinsAG (p.Gln1655=) n.2819_2820delinsAG c.5096_5097delinsAG (p.Gln1699=) c.5042_5043delinsAG (p.Gln1681=) c.5057_5058delinsAG (p.Gln1686=) c.4967_4968delinsAG (p.Gln1656=) c.5092_5093delinsAG n.3255_3256delinsAG c.5165_5166delinsAG (p.Gln1722=) n.3986_3987delinsAG n.2423_2424delinsAG n.2394_2395delinsAG n.2284_2285delinsAG c.4826_4827delinsAG (p.Gln1609=) c.*4338_*4339delinsAG (n.*4338_*4339delinsAG) c.4862_4863delinsAG (p.Gln1621=) n.2894_2895delinsAG c.1353_1354delinsAG n.2286_2287delinsAG c.5225_5226delinsAG (p.Gln1742=) c.5222_5223delinsAG (p.Gln1741=) c.5114_5115delinsAG (p.Gln1705=) c.5093_5094delinsAG (p.Gln1698=) c.4439_4440delinsAG (p.Gln1480=) c.5387_5388delinsAG (p.Gln1796=) c.5135_5136delinsAG (p.Gln1712=) c.3881_3882delinsAG (p.Gln1294=) | |
16 | g.2088238G>A | CA054320 | TSC2 | c.*3521G>A (n.*3521G>A) c.5019G>A (p.Gln1673=) c.5169G>A (p.Gln1723=) c.*5685G>A (n.*5685G>A) c.*7921G>A (n.*7921G>A) c.5172G>A (p.Gln1724=) c.5103G>A (p.Gln1701=) c.4971G>A (p.Gln1657=) c.5004G>A (p.Gln1668=) c.1395G>A n.3054G>A c.3826G>A c.5032-1G>A (n.5032-1G>A) n.769G>A c.4974G>A (p.Gln1658=) c.5040G>A (p.Gln1680=) c.4965G>A (p.Gln1655=) n.2820G>A c.5097G>A (p.Gln1699=) c.5043G>A (p.Gln1681=) c.5058G>A (p.Gln1686=) c.4968G>A (p.Gln1656=) c.5093G>A n.3256G>A c.5166G>A (p.Gln1722=) n.3987G>A n.2424G>A n.2395G>A n.2285G>A c.4827G>A (p.Gln1609=) c.*4339G>A (n.*4339G>A) c.4863G>A (p.Gln1621=) n.2895G>A c.1354G>A n.2287G>A c.5226G>A (p.Gln1742=) c.5223G>A (p.Gln1741=) c.5115G>A (p.Gln1705=) c.5094G>A (p.Gln1698=) c.4440G>A (p.Gln1480=) c.5388G>A (p.Gln1796=) c.5136G>A (p.Gln1712=) c.3882G>A (p.Gln1294=) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.2088238G>C | CA394313975 | TSC2 | c.*3521G>C (n.*3521G>C) c.5019G>C (p.Gln1673His) c.5169G>C (p.Gln1723His) c.*5685G>C (n.*5685G>C) c.*7921G>C (n.*7921G>C) c.5172G>C (p.Gln1724His) c.5103G>C (p.Gln1701His) c.4971G>C (p.Gln1657His) c.5004G>C (p.Gln1668His) c.1395G>C n.3054G>C c.3826G>C c.5032-1G>C (n.5032-1G>C) n.769G>C c.4974G>C (p.Gln1658His) c.5040G>C (p.Gln1680His) c.4965G>C (p.Gln1655His) n.2820G>C c.5097G>C (p.Gln1699His) c.5043G>C (p.Gln1681His) c.5058G>C (p.Gln1686His) c.4968G>C (p.Gln1656His) c.5093G>C n.3256G>C c.5166G>C (p.Gln1722His) n.3987G>C n.2424G>C n.2395G>C n.2285G>C c.4827G>C (p.Gln1609His) c.*4339G>C (n.*4339G>C) c.4863G>C (p.Gln1621His) n.2895G>C c.1354G>C n.2287G>C c.5226G>C (p.Gln1742His) c.5223G>C (p.Gln1741His) c.5115G>C (p.Gln1705His) c.5094G>C (p.Gln1698His) c.4440G>C (p.Gln1480His) c.5388G>C (p.Gln1796His) c.5136G>C (p.Gln1712His) c.3882G>C (p.Gln1294His) | dbSNP |
16 | g.2088238G= | CA2202031638 | TSC2 | c.*3521G= (n.*3521G=) c.5019G= (p.Gln1673=) c.5169G= (p.Gln1723=) c.*5685G= (n.*5685G=) c.*7921G= (n.*7921G=) c.5172G= (p.Gln1724=) c.5103G= (p.Gln1701=) c.4971G= (p.Gln1657=) c.5004G= (p.Gln1668=) c.1395G= n.3054G= c.3826G= c.5032-1G= (n.5032-1G=) n.769G= c.4974G= (p.Gln1658=) c.5040G= (p.Gln1680=) c.4965G= (p.Gln1655=) n.2820G= c.5097G= (p.Gln1699=) c.5043G= (p.Gln1681=) c.5058G= (p.Gln1686=) c.4968G= (p.Gln1656=) c.5093G= n.3256G= c.5166G= (p.Gln1722=) n.3987G= n.2424G= n.2395G= n.2285G= c.4827G= (p.Gln1609=) c.*4339G= (n.*4339G=) c.4863G= (p.Gln1621=) n.2895G= c.1354G= n.2287G= c.5226G= (p.Gln1742=) c.5223G= (p.Gln1741=) c.5115G= (p.Gln1705=) c.5094G= (p.Gln1698=) c.4440G= (p.Gln1480=) c.5388G= (p.Gln1796=) c.5136G= (p.Gln1712=) c.3882G= (p.Gln1294=) | |
16 | g.2088238G>T | CA394313940 | TSC2 | c.*3521G>T (n.*3521G>T) c.5019G>T (p.Gln1673His) c.5169G>T (p.Gln1723His) c.*5685G>T (n.*5685G>T) c.*7921G>T (n.*7921G>T) c.5172G>T (p.Gln1724His) c.5103G>T (p.Gln1701His) c.4971G>T (p.Gln1657His) c.5004G>T (p.Gln1668His) c.1395G>T n.3054G>T c.3826G>T c.5032-1G>T (n.5032-1G>T) n.769G>T c.4974G>T (p.Gln1658His) c.5040G>T (p.Gln1680His) c.4965G>T (p.Gln1655His) n.2820G>T c.5097G>T (p.Gln1699His) c.5043G>T (p.Gln1681His) c.5058G>T (p.Gln1686His) c.4968G>T (p.Gln1656His) c.5093G>T n.3256G>T c.5166G>T (p.Gln1722His) n.3987G>T n.2424G>T n.2395G>T n.2285G>T c.4827G>T (p.Gln1609His) c.*4339G>T (n.*4339G>T) c.4863G>T (p.Gln1621His) n.2895G>T c.1354G>T n.2287G>T c.5226G>T (p.Gln1742His) c.5223G>T (p.Gln1741His) c.5115G>T (p.Gln1705His) c.5094G>T (p.Gln1698His) c.4440G>T (p.Gln1480His) c.5388G>T (p.Gln1796His) c.5136G>T (p.Gln1712His) c.3882G>T (p.Gln1294His) | ClinVar dbSNP gnomAD v4 |
16 | g.2088239dup | CA2695221752 | TSC2 | c.*3522dup (n.*3522dup) c.5020dup (p.Val1674GlyfsTer4) c.5170dup (p.Val1724GlyfsTer4) c.*5686dup (n.*5686dup) c.*7922dup (n.*7922dup) c.5173dup (p.Val1725GlyfsTer4) c.5104dup (p.Val1702GlyfsTer4) c.4972dup (p.Val1658GlyfsTer4) c.5005dup (p.Val1669GlyfsTer4) c.1396dup n.3055dup c.3827dup c.5032dup n.770dup c.4975dup (p.Val1659GlyfsTer4) c.5041dup (p.Val1681GlyfsTer4) c.4966dup (p.Val1656GlyfsTer4) n.2821dup c.5098dup (p.Val1700GlyfsTer4) c.5044dup (p.Val1682GlyfsTer4) c.5059dup (p.Val1687GlyfsTer4) c.4969dup (p.Val1657GlyfsTer4) c.5094dup n.3257dup c.5167dup (p.Val1723GlyfsTer4) n.3988dup n.2425dup n.2396dup n.2286dup c.4828dup (p.Val1610GlyfsTer4) c.*4340dup (n.*4340dup) c.4864dup (p.Val1622GlyfsTer4) n.2896dup c.1355dup n.2288dup c.5227dup (p.Val1743GlyfsTer4) c.5224dup (p.Val1742GlyfsTer4) c.5116dup (p.Val1706GlyfsTer4) c.5095dup (p.Val1699GlyfsTer4) c.4441dup (p.Val1481GlyfsTer4) c.5389dup (p.Val1797GlyfsTer4) c.5137dup (p.Val1713GlyfsTer4) c.3883dup (p.Val1295GlyfsTer4) | |
16 | g.2088239del | CA022078 | TSC2 | c.*3522del (n.*3522del) c.5020del (p.Val1674CysfsTer?) c.5170del (p.Val1724CysfsTer?) c.*5686del (n.*5686del) c.*7922del (n.*7922del) c.5173del (p.Val1725CysfsTer?) c.5104del (p.Val1702CysfsTer?) c.4972del (p.Val1658CysfsTer?) c.5005del (p.Val1669CysfsTer?) c.1396del n.3055del c.3827del c.5032del n.770del c.4975del (p.Val1659CysfsTer?) c.5041del (p.Val1681CysfsTer?) c.4966del (p.Val1656CysfsTer?) n.2821del c.5098del (p.Val1700CysfsTer?) c.5044del (p.Val1682CysfsTer?) c.5059del (p.Val1687CysfsTer?) c.4969del (p.Val1657CysfsTer?) c.5094del n.3257del c.5167del (p.Val1723CysfsTer?) n.3988del n.2425del n.2396del n.2286del c.4828del (p.Val1610CysfsTer?) c.*4340del (n.*4340del) c.4864del (p.Val1622CysfsTer?) n.2896del c.1355del n.2288del c.5227del (p.Val1743CysfsTer?) c.5224del (p.Val1742CysfsTer?) c.5116del (p.Val1706CysfsTer?) c.5095del (p.Val1699CysfsTer?) c.4441del (p.Val1481CysfsTer?) c.5389del (p.Val1797CysfsTer?) c.5137del (p.Val1713CysfsTer?) c.3883del (p.Val1295CysfsTer?) | ClinVar dbSNP |
16 | g.2088238_2088242del | CA2631118465 | TSC2 | c.*3521_*3525del (n.*3521_*3525del) c.5019_5023del (p.Val1674SerfsTer2) c.5169_5173del (p.Val1724SerfsTer2) c.*5685_*5689del (n.*5685_*5689del) c.*7921_*7925del (n.*7921_*7925del) c.5172_5176del (p.Val1725SerfsTer2) c.5103_5107del (p.Val1702SerfsTer2) c.4971_4975del (p.Val1658SerfsTer2) c.5004_5008del (p.Val1669SerfsTer2) c.1395_1399del n.3054_3058del c.3826_3830del c.5032-1_5035del n.769_773del c.4974_4978del (p.Val1659SerfsTer2) c.5040_5044del (p.Val1681SerfsTer2) c.4965_4969del (p.Val1656SerfsTer2) n.2820_2824del c.5097_5101del (p.Val1700SerfsTer2) c.5043_5047del (p.Val1682SerfsTer2) c.5058_5062del (p.Val1687SerfsTer2) c.4968_4972del (p.Val1657SerfsTer2) c.5093_5097del n.3256_3260del c.5166_5170del (p.Val1723SerfsTer2) n.3987_3991del n.2424_2428del n.2395_2399del n.2285_2289del c.4827_4831del (p.Val1610SerfsTer2) c.*4339_*4343del (n.*4339_*4343del) c.4863_4867del (p.Val1622SerfsTer2) n.2895_2899del c.1354_1358del n.2287_2291del c.5226_5230del (p.Val1743SerfsTer2) c.5223_5227del (p.Val1742SerfsTer2) c.5115_5119del (p.Val1706SerfsTer2) c.5094_5098del (p.Val1699SerfsTer2) c.4440_4444del (p.Val1481SerfsTer2) c.5388_5392del (p.Val1797SerfsTer2) c.5136_5140del (p.Val1713SerfsTer2) c.3882_3886del (p.Val1295SerfsTer2) | dbSNP gnomAD v4 |
16 | g.2088239G>A | CA394313992 | TSC2 | c.*3522G>A (n.*3522G>A) c.5020G>A (p.Val1674Met) c.5170G>A (p.Val1724Met) c.*5686G>A (n.*5686G>A) c.*7922G>A (n.*7922G>A) c.5173G>A (p.Val1725Met) c.5104G>A (p.Val1702Met) c.4972G>A (p.Val1658Met) c.5005G>A (p.Val1669Met) c.1396G>A n.3055G>A c.3827G>A c.5032G>A (p.Val1678Met) n.770G>A c.4975G>A (p.Val1659Met) c.5041G>A (p.Val1681Met) c.4966G>A (p.Val1656Met) n.2821G>A c.5098G>A (p.Val1700Met) c.5044G>A (p.Val1682Met) c.5059G>A (p.Val1687Met) c.4969G>A (p.Val1657Met) c.5094G>A n.3257G>A c.5167G>A (p.Val1723Met) n.3988G>A n.2425G>A n.2396G>A n.2286G>A c.4828G>A (p.Val1610Met) c.*4340G>A (n.*4340G>A) c.4864G>A (p.Val1622Met) n.2896G>A c.1355G>A n.2288G>A c.5227G>A (p.Val1743Met) c.5224G>A (p.Val1742Met) c.5116G>A (p.Val1706Met) c.5095G>A (p.Val1699Met) c.4441G>A (p.Val1481Met) c.5389G>A (p.Val1797Met) c.5137G>A (p.Val1713Met) c.3883G>A (p.Val1295Met) | ClinVar dbSNP |
16 | g.2088239G>C | CA394313996 | TSC2 | c.*3522G>C (n.*3522G>C) c.5020G>C (p.Val1674Leu) c.5170G>C (p.Val1724Leu) c.*5686G>C (n.*5686G>C) c.*7922G>C (n.*7922G>C) c.5173G>C (p.Val1725Leu) c.5104G>C (p.Val1702Leu) c.4972G>C (p.Val1658Leu) c.5005G>C (p.Val1669Leu) c.1396G>C n.3055G>C c.3827G>C c.5032G>C (p.Val1678Leu) n.770G>C c.4975G>C (p.Val1659Leu) c.5041G>C (p.Val1681Leu) c.4966G>C (p.Val1656Leu) n.2821G>C c.5098G>C (p.Val1700Leu) c.5044G>C (p.Val1682Leu) c.5059G>C (p.Val1687Leu) c.4969G>C (p.Val1657Leu) c.5094G>C n.3257G>C c.5167G>C (p.Val1723Leu) n.3988G>C n.2425G>C n.2396G>C n.2286G>C c.4828G>C (p.Val1610Leu) c.*4340G>C (n.*4340G>C) c.4864G>C (p.Val1622Leu) n.2896G>C c.1355G>C n.2288G>C c.5227G>C (p.Val1743Leu) c.5224G>C (p.Val1742Leu) c.5116G>C (p.Val1706Leu) c.5095G>C (p.Val1699Leu) c.4441G>C (p.Val1481Leu) c.5389G>C (p.Val1797Leu) c.5137G>C (p.Val1713Leu) c.3883G>C (p.Val1295Leu) | dbSNP |
16 | g.2088239G>T | CA394314002 | TSC2 | c.*3522G>T (n.*3522G>T) c.5020G>T (p.Val1674Leu) c.5170G>T (p.Val1724Leu) c.*5686G>T (n.*5686G>T) c.*7922G>T (n.*7922G>T) c.5173G>T (p.Val1725Leu) c.5104G>T (p.Val1702Leu) c.4972G>T (p.Val1658Leu) c.5005G>T (p.Val1669Leu) c.1396G>T n.3055G>T c.3827G>T c.5032G>T (p.Val1678Leu) n.770G>T c.4975G>T (p.Val1659Leu) c.5041G>T (p.Val1681Leu) c.4966G>T (p.Val1656Leu) n.2821G>T c.5098G>T (p.Val1700Leu) c.5044G>T (p.Val1682Leu) c.5059G>T (p.Val1687Leu) c.4969G>T (p.Val1657Leu) c.5094G>T n.3257G>T c.5167G>T (p.Val1723Leu) n.3988G>T n.2425G>T n.2396G>T n.2286G>T c.4828G>T (p.Val1610Leu) c.*4340G>T (n.*4340G>T) c.4864G>T (p.Val1622Leu) n.2896G>T c.1355G>T n.2288G>T c.5227G>T (p.Val1743Leu) c.5224G>T (p.Val1742Leu) c.5116G>T (p.Val1706Leu) c.5095G>T (p.Val1699Leu) c.4441G>T (p.Val1481Leu) c.5389G>T (p.Val1797Leu) c.5137G>T (p.Val1713Leu) c.3883G>T (p.Val1295Leu) | ClinVar |
16 | g.2088240_2088241dup | CA2573151979 | TSC2 | c.*3523_*3524dup (n.*3523_*3524dup) c.5021_5022dup (p.His1675CysfsTer?) c.5171_5172dup (p.His1725CysfsTer?) c.*5687_*5688dup (n.*5687_*5688dup) c.*7923_*7924dup (n.*7923_*7924dup) c.5174_5175dup (p.His1726CysfsTer?) c.5105_5106dup (p.His1703CysfsTer?) c.4973_4974dup (p.His1659CysfsTer?) c.5006_5007dup (p.His1670CysfsTer?) c.1397_1398dup n.3056_3057dup c.3828_3829dup c.5033_5034dup (p.His1679CysfsTer?) n.771_772dup c.4976_4977dup (p.His1660CysfsTer?) c.5042_5043dup (p.His1682CysfsTer?) c.4967_4968dup (p.His1657CysfsTer?) n.2822_2823dup c.5099_5100dup (p.His1701CysfsTer?) c.5045_5046dup (p.His1683CysfsTer?) c.5060_5061dup (p.His1688CysfsTer?) c.4970_4971dup (p.His1658CysfsTer?) c.5095_5096dup n.3258_3259dup c.5168_5169dup (p.His1724CysfsTer?) n.3989_3990dup n.2426_2427dup n.2397_2398dup n.2287_2288dup c.4829_4830dup (p.His1611CysfsTer?) c.*4341_*4342dup (n.*4341_*4342dup) c.4865_4866dup (p.His1623CysfsTer?) n.2897_2898dup c.1356_1357dup n.2289_2290dup c.5228_5229dup (p.His1744CysfsTer?) c.5225_5226dup (p.His1743CysfsTer?) c.5117_5118dup (p.His1707CysfsTer?) c.5096_5097dup (p.His1700CysfsTer?) c.4442_4443dup (p.His1482CysfsTer?) c.5390_5391dup (p.His1798CysfsTer?) c.5138_5139dup (p.His1714CysfsTer?) c.3884_3885dup (p.His1296CysfsTer?) | ClinVar dbSNP |
16 | g.2088240T>A | CA394314006 | TSC2 | c.*3523T>A (n.*3523T>A) c.5021T>A (p.Val1674Glu) c.5171T>A (p.Val1724Glu) c.*5687T>A (n.*5687T>A) c.*7923T>A (n.*7923T>A) c.5174T>A (p.Val1725Glu) c.5105T>A (p.Val1702Glu) c.4973T>A (p.Val1658Glu) c.5006T>A (p.Val1669Glu) c.1397T>A n.3056T>A c.3828T>A c.5033T>A (p.Val1678Glu) n.771T>A c.4976T>A (p.Val1659Glu) c.5042T>A (p.Val1681Glu) c.4967T>A (p.Val1656Glu) n.2822T>A c.5099T>A (p.Val1700Glu) c.5045T>A (p.Val1682Glu) c.5060T>A (p.Val1687Glu) c.4970T>A (p.Val1657Glu) c.5095T>A n.3258T>A c.5168T>A (p.Val1723Glu) n.3989T>A n.2426T>A n.2397T>A n.2287T>A c.4829T>A (p.Val1610Glu) c.*4341T>A (n.*4341T>A) c.4865T>A (p.Val1622Glu) n.2897T>A c.1356T>A n.2289T>A c.5228T>A (p.Val1743Glu) c.5225T>A (p.Val1742Glu) c.5117T>A (p.Val1706Glu) c.5096T>A (p.Val1699Glu) c.4442T>A (p.Val1481Glu) c.5390T>A (p.Val1797Glu) c.5138T>A (p.Val1713Glu) c.3884T>A (p.Val1295Glu) | dbSNP |
16 | g.2088240T>C | CA394314013 | TSC2 | c.*3523T>C (n.*3523T>C) c.5021T>C (p.Val1674Ala) c.5171T>C (p.Val1724Ala) c.*5687T>C (n.*5687T>C) c.*7923T>C (n.*7923T>C) c.5174T>C (p.Val1725Ala) c.5105T>C (p.Val1702Ala) c.4973T>C (p.Val1658Ala) c.5006T>C (p.Val1669Ala) c.1397T>C n.3056T>C c.3828T>C c.5033T>C (p.Val1678Ala) n.771T>C c.4976T>C (p.Val1659Ala) c.5042T>C (p.Val1681Ala) c.4967T>C (p.Val1656Ala) n.2822T>C c.5099T>C (p.Val1700Ala) c.5045T>C (p.Val1682Ala) c.5060T>C (p.Val1687Ala) c.4970T>C (p.Val1657Ala) c.5095T>C n.3258T>C c.5168T>C (p.Val1723Ala) n.3989T>C n.2426T>C n.2397T>C n.2287T>C c.4829T>C (p.Val1610Ala) c.*4341T>C (n.*4341T>C) c.4865T>C (p.Val1622Ala) n.2897T>C c.1356T>C n.2289T>C c.5228T>C (p.Val1743Ala) c.5225T>C (p.Val1742Ala) c.5117T>C (p.Val1706Ala) c.5096T>C (p.Val1699Ala) c.4442T>C (p.Val1481Ala) c.5390T>C (p.Val1797Ala) c.5138T>C (p.Val1713Ala) c.3884T>C (p.Val1295Ala) | ClinVar dbSNP |
16 | g.2088240T>G | CA394314017 | TSC2 | c.*3523T>G (n.*3523T>G) c.5021T>G (p.Val1674Gly) c.5171T>G (p.Val1724Gly) c.*5687T>G (n.*5687T>G) c.*7923T>G (n.*7923T>G) c.5174T>G (p.Val1725Gly) c.5105T>G (p.Val1702Gly) c.4973T>G (p.Val1658Gly) c.5006T>G (p.Val1669Gly) c.1397T>G n.3056T>G c.3828T>G c.5033T>G (p.Val1678Gly) n.771T>G c.4976T>G (p.Val1659Gly) c.5042T>G (p.Val1681Gly) c.4967T>G (p.Val1656Gly) n.2822T>G c.5099T>G (p.Val1700Gly) c.5045T>G (p.Val1682Gly) c.5060T>G (p.Val1687Gly) c.4970T>G (p.Val1657Gly) c.5095T>G n.3258T>G c.5168T>G (p.Val1723Gly) n.3989T>G n.2426T>G n.2397T>G n.2287T>G c.4829T>G (p.Val1610Gly) c.*4341T>G (n.*4341T>G) c.4865T>G (p.Val1622Gly) n.2897T>G c.1356T>G n.2289T>G c.5228T>G (p.Val1743Gly) c.5225T>G (p.Val1742Gly) c.5117T>G (p.Val1706Gly) c.5096T>G (p.Val1699Gly) c.4442T>G (p.Val1481Gly) c.5390T>G (p.Val1797Gly) c.5138T>G (p.Val1713Gly) c.3884T>G (p.Val1295Gly) | dbSNP |
16 | g.2088241del | CA2631118469 | TSC2 | c.*3524del (n.*3524del) c.5022del (p.His1675IlefsTer?) c.5172del (p.His1725IlefsTer?) c.*5688del (n.*5688del) c.*7924del (n.*7924del) c.5175del (p.His1726IlefsTer?) c.5106del (p.His1703IlefsTer?) c.4974del (p.His1659IlefsTer?) c.5007del (p.His1670IlefsTer?) c.1398del n.3057del c.3829del c.5034del (p.His1679IlefsTer?) n.772del c.4977del (p.His1660IlefsTer?) c.5043del (p.His1682IlefsTer?) c.4968del (p.His1657IlefsTer?) n.2823del c.5100del (p.His1701IlefsTer?) c.5046del (p.His1683IlefsTer?) c.5061del (p.His1688IlefsTer?) c.4971del (p.His1658IlefsTer?) c.5096del n.3259del c.5169del (p.His1724IlefsTer?) n.3990del n.2427del n.2398del n.2288del c.4830del (p.His1611IlefsTer?) c.*4342del (n.*4342del) c.4866del (p.His1623IlefsTer?) n.2898del c.1357del n.2290del c.5229del (p.His1744IlefsTer?) c.5226del (p.His1743IlefsTer?) c.5118del (p.His1707IlefsTer?) c.5097del (p.His1700IlefsTer?) c.4443del (p.His1482IlefsTer?) c.5391del (p.His1798IlefsTer?) c.5139del (p.His1714IlefsTer?) c.3885del (p.His1296IlefsTer?) | gnomAD v4 |
16 | g.2088241G>A | CA10587229 | TSC2 | c.*3524G>A (n.*3524G>A) c.5022G>A (p.Val1674=) c.5172G>A (p.Val1724=) c.*5688G>A (n.*5688G>A) c.*7924G>A (n.*7924G>A) c.5175G>A (p.Val1725=) c.5106G>A (p.Val1702=) c.4974G>A (p.Val1658=) c.5007G>A (p.Val1669=) c.1398G>A n.3057G>A c.3829G>A c.5034G>A (p.Val1678=) n.772G>A c.4977G>A (p.Val1659=) c.5043G>A (p.Val1681=) c.4968G>A (p.Val1656=) n.2823G>A c.5100G>A (p.Val1700=) c.5046G>A (p.Val1682=) c.5061G>A (p.Val1687=) c.4971G>A (p.Val1657=) c.5096G>A n.3259G>A c.5169G>A (p.Val1723=) n.3990G>A n.2427G>A n.2398G>A n.2288G>A c.4830G>A (p.Val1610=) c.*4342G>A (n.*4342G>A) c.4866G>A (p.Val1622=) n.2898G>A c.1357G>A n.2290G>A c.5229G>A (p.Val1743=) c.5226G>A (p.Val1742=) c.5118G>A (p.Val1706=) c.5097G>A (p.Val1699=) c.4443G>A (p.Val1481=) c.5391G>A (p.Val1797=) c.5139G>A (p.Val1713=) c.3885G>A (p.Val1295=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088241G>C | CA493043740 | TSC2 | c.*3524G>C (n.*3524G>C) c.5022G>C (p.Val1674=) c.5172G>C (p.Val1724=) c.*5688G>C (n.*5688G>C) c.*7924G>C (n.*7924G>C) c.5175G>C (p.Val1725=) c.5106G>C (p.Val1702=) c.4974G>C (p.Val1658=) c.5007G>C (p.Val1669=) c.1398G>C n.3057G>C c.3829G>C c.5034G>C (p.Val1678=) n.772G>C c.4977G>C (p.Val1659=) c.5043G>C (p.Val1681=) c.4968G>C (p.Val1656=) n.2823G>C c.5100G>C (p.Val1700=) c.5046G>C (p.Val1682=) c.5061G>C (p.Val1687=) c.4971G>C (p.Val1657=) c.5096G>C n.3259G>C c.5169G>C (p.Val1723=) n.3990G>C n.2427G>C n.2398G>C n.2288G>C c.4830G>C (p.Val1610=) c.*4342G>C (n.*4342G>C) c.4866G>C (p.Val1622=) n.2898G>C c.1357G>C n.2290G>C c.5229G>C (p.Val1743=) c.5226G>C (p.Val1742=) c.5118G>C (p.Val1706=) c.5097G>C (p.Val1699=) c.4443G>C (p.Val1481=) c.5391G>C (p.Val1797=) c.5139G>C (p.Val1713=) c.3885G>C (p.Val1295=) | dbSNP |
16 | g.2088241G= | CA2202031651 | TSC2 | c.*3524G= (n.*3524G=) c.5022G= (p.Val1674=) c.5172G= (p.Val1724=) c.*5688G= (n.*5688G=) c.*7924G= (n.*7924G=) c.5175G= (p.Val1725=) c.5106G= (p.Val1702=) c.4974G= (p.Val1658=) c.5007G= (p.Val1669=) c.1398G= n.3057G= c.3829G= c.5034G= (p.Val1678=) n.772G= c.4977G= (p.Val1659=) c.5043G= (p.Val1681=) c.4968G= (p.Val1656=) n.2823G= c.5100G= (p.Val1700=) c.5046G= (p.Val1682=) c.5061G= (p.Val1687=) c.4971G= (p.Val1657=) c.5096G= n.3259G= c.5169G= (p.Val1723=) n.3990G= n.2427G= n.2398G= n.2288G= c.4830G= (p.Val1610=) c.*4342G= (n.*4342G=) c.4866G= (p.Val1622=) n.2898G= c.1357G= n.2290G= c.5229G= (p.Val1743=) c.5226G= (p.Val1742=) c.5118G= (p.Val1706=) c.5097G= (p.Val1699=) c.4443G= (p.Val1481=) c.5391G= (p.Val1797=) c.5139G= (p.Val1713=) c.3885G= (p.Val1295=) | |
16 | g.2088241G>T | CA493043741 | TSC2 | c.*3524G>T (n.*3524G>T) c.5022G>T (p.Val1674=) c.5172G>T (p.Val1724=) c.*5688G>T (n.*5688G>T) c.*7924G>T (n.*7924G>T) c.5175G>T (p.Val1725=) c.5106G>T (p.Val1702=) c.4974G>T (p.Val1658=) c.5007G>T (p.Val1669=) c.1398G>T n.3057G>T c.3829G>T c.5034G>T (p.Val1678=) n.772G>T c.4977G>T (p.Val1659=) c.5043G>T (p.Val1681=) c.4968G>T (p.Val1656=) n.2823G>T c.5100G>T (p.Val1700=) c.5046G>T (p.Val1682=) c.5061G>T (p.Val1687=) c.4971G>T (p.Val1657=) c.5096G>T n.3259G>T c.5169G>T (p.Val1723=) n.3990G>T n.2427G>T n.2398G>T n.2288G>T c.4830G>T (p.Val1610=) c.*4342G>T (n.*4342G>T) c.4866G>T (p.Val1622=) n.2898G>T c.1357G>T n.2290G>T c.5229G>T (p.Val1743=) c.5226G>T (p.Val1742=) c.5118G>T (p.Val1706=) c.5097G>T (p.Val1699=) c.4443G>T (p.Val1481=) c.5391G>T (p.Val1797=) c.5139G>T (p.Val1713=) c.3885G>T (p.Val1295=) | dbSNP |
16 | g.2088241_2088242del | CA973770552 | TSC2 | c.*3524_*3525del (n.*3524_*3525del) c.5022_5023del (p.His1675SerfsTer2) c.5172_5173del (p.His1725SerfsTer2) c.*5688_*5689del (n.*5688_*5689del) c.*7924_*7925del (n.*7924_*7925del) c.5175_5176del (p.His1726SerfsTer2) c.5106_5107del (p.His1703SerfsTer2) c.4974_4975del (p.His1659SerfsTer2) c.5007_5008del (p.His1670SerfsTer2) c.1398_1399del n.3057_3058del c.3829_3830del c.5034_5035del (p.His1679SerfsTer2) n.772_773del c.4977_4978del (p.His1660SerfsTer2) c.5043_5044del (p.His1682SerfsTer2) c.4968_4969del (p.His1657SerfsTer2) n.2823_2824del c.5100_5101del (p.His1701SerfsTer2) c.5046_5047del (p.His1683SerfsTer2) c.5061_5062del (p.His1688SerfsTer2) c.4971_4972del (p.His1658SerfsTer2) c.5096_5097del n.3259_3260del c.5169_5170del (p.His1724SerfsTer2) n.3990_3991del n.2427_2428del n.2398_2399del n.2288_2289del c.4830_4831del (p.His1611SerfsTer2) c.*4342_*4343del (n.*4342_*4343del) c.4866_4867del (p.His1623SerfsTer2) n.2898_2899del c.1357_1358del n.2290_2291del c.5229_5230del (p.His1744SerfsTer2) c.5226_5227del (p.His1743SerfsTer2) c.5118_5119del (p.His1707SerfsTer2) c.5097_5098del (p.His1700SerfsTer2) c.4443_4444del (p.His1482SerfsTer2) c.5391_5392del (p.His1798SerfsTer2) c.5139_5140del (p.His1714SerfsTer2) c.3885_3886del (p.His1296SerfsTer2) | gnomAD v3 gnomAD v4 |
16 | g.2088241_2088242insTTTTT | CA973770562 | TSC2 | c.*3524_*3525insTTTTT (n.*3524_*3525insTTTTT) c.5022_5023insTTTTT (p.His1675PhefsTer?) c.5172_5173insTTTTT (p.His1725PhefsTer?) c.*5688_*5689insTTTTT (n.*5688_*5689insTTTTT) c.*7924_*7925insTTTTT (n.*7924_*7925insTTTTT) c.5175_5176insTTTTT (p.His1726PhefsTer?) c.5106_5107insTTTTT (p.His1703PhefsTer?) c.4974_4975insTTTTT (p.His1659PhefsTer?) c.5007_5008insTTTTT (p.His1670PhefsTer?) c.1398_1399insTTTTT n.3057_3058insTTTTT c.3829_3830insTTTTT c.5034_5035insTTTTT (p.His1679PhefsTer?) n.772_773insTTTTT c.4977_4978insTTTTT (p.His1660PhefsTer?) c.5043_5044insTTTTT (p.His1682PhefsTer?) c.4968_4969insTTTTT (p.His1657PhefsTer?) n.2823_2824insTTTTT c.5100_5101insTTTTT (p.His1701PhefsTer?) c.5046_5047insTTTTT (p.His1683PhefsTer?) c.5061_5062insTTTTT (p.His1688PhefsTer?) c.4971_4972insTTTTT (p.His1658PhefsTer?) c.5096_5097insTTTTT n.3259_3260insTTTTT c.5169_5170insTTTTT (p.His1724PhefsTer?) n.3990_3991insTTTTT n.2427_2428insTTTTT n.2398_2399insTTTTT n.2288_2289insTTTTT c.4830_4831insTTTTT (p.His1611PhefsTer?) c.*4342_*4343insTTTTT (n.*4342_*4343insTTTTT) c.4866_4867insTTTTT (p.His1623PhefsTer?) n.2898_2899insTTTTT c.1357_1358insTTTTT n.2290_2291insTTTTT c.5229_5230insTTTTT (p.His1744PhefsTer?) c.5226_5227insTTTTT (p.His1743PhefsTer?) c.5118_5119insTTTTT (p.His1707PhefsTer?) c.5097_5098insTTTTT (p.His1700PhefsTer?) c.4443_4444insTTTTT (p.His1482PhefsTer?) c.5391_5392insTTTTT (p.His1798PhefsTer?) c.5139_5140insTTTTT (p.His1714PhefsTer?) c.3885_3886insTTTTT (p.His1296PhefsTer?) | gnomAD v3 gnomAD v4 |
16 | g.2088241_2088242insTTTTTT | CA620705065 | TSC2 | c.*3524_*3525insTTTTTT (n.*3524_*3525insTTTTTT) c.5022_5023insTTTTTT (p.Val1674_His1675insPhePhe) c.5172_5173insTTTTTT (p.Val1724_His1725insPhePhe) c.*5688_*5689insTTTTTT (n.*5688_*5689insTTTTTT) c.*7924_*7925insTTTTTT (n.*7924_*7925insTTTTTT) c.5175_5176insTTTTTT (p.Val1725_His1726insPhePhe) c.5106_5107insTTTTTT (p.Val1702_His1703insPhePhe) c.4974_4975insTTTTTT (p.Val1658_His1659insPhePhe) c.5007_5008insTTTTTT (p.Val1669_His1670insPhePhe) c.1398_1399insTTTTTT n.3057_3058insTTTTTT c.3829_3830insTTTTTT c.5034_5035insTTTTTT (p.Val1678_His1679insPhePhe) n.772_773insTTTTTT c.4977_4978insTTTTTT (p.Val1659_His1660insPhePhe) c.5043_5044insTTTTTT (p.Val1681_His1682insPhePhe) c.4968_4969insTTTTTT (p.Val1656_His1657insPhePhe) n.2823_2824insTTTTTT c.5100_5101insTTTTTT (p.Val1700_His1701insPhePhe) c.5046_5047insTTTTTT (p.Val1682_His1683insPhePhe) c.5061_5062insTTTTTT (p.Val1687_His1688insPhePhe) c.4971_4972insTTTTTT (p.Val1657_His1658insPhePhe) c.5096_5097insTTTTTT n.3259_3260insTTTTTT c.5169_5170insTTTTTT (p.Val1723_His1724insPhePhe) n.3990_3991insTTTTTT n.2427_2428insTTTTTT n.2398_2399insTTTTTT n.2288_2289insTTTTTT c.4830_4831insTTTTTT (p.Val1610_His1611insPhePhe) c.*4342_*4343insTTTTTT (n.*4342_*4343insTTTTTT) c.4866_4867insTTTTTT (p.Val1622_His1623insPhePhe) n.2898_2899insTTTTTT c.1357_1358insTTTTTT n.2290_2291insTTTTTT c.5229_5230insTTTTTT (p.Val1743_His1744insPhePhe) c.5226_5227insTTTTTT (p.Val1742_His1743insPhePhe) c.5118_5119insTTTTTT (p.Val1706_His1707insPhePhe) c.5097_5098insTTTTTT (p.Val1699_His1700insPhePhe) c.4443_4444insTTTTTT (p.Val1481_His1482insPhePhe) c.5391_5392insTTTTTT (p.Val1797_His1798insPhePhe) c.5139_5140insTTTTTT (p.Val1713_His1714insPhePhe) c.3885_3886insTTTTTT (p.Val1295_His1296insPhePhe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088242C>A | CA394314029 | TSC2 | c.*3525C>A (n.*3525C>A) c.5023C>A (p.His1675Asn) c.5173C>A (p.His1725Asn) c.*5689C>A (n.*5689C>A) c.*7925C>A (n.*7925C>A) c.5176C>A (p.His1726Asn) c.5107C>A (p.His1703Asn) c.4975C>A (p.His1659Asn) c.5008C>A (p.His1670Asn) c.1399C>A n.3058C>A c.3830C>A c.5035C>A (p.His1679Asn) n.773C>A c.4978C>A (p.His1660Asn) c.5044C>A (p.His1682Asn) c.4969C>A (p.His1657Asn) n.2824C>A c.5101C>A (p.His1701Asn) c.5047C>A (p.His1683Asn) c.5062C>A (p.His1688Asn) c.4972C>A (p.His1658Asn) c.5097C>A n.3260C>A c.5170C>A (p.His1724Asn) n.3991C>A n.2428C>A n.2399C>A n.2289C>A c.4831C>A (p.His1611Asn) c.*4343C>A (n.*4343C>A) c.4867C>A (p.His1623Asn) n.2899C>A c.1358C>A n.2291C>A c.5230C>A (p.His1744Asn) c.5227C>A (p.His1743Asn) c.5119C>A (p.His1707Asn) c.5098C>A (p.His1700Asn) c.4444C>A (p.His1482Asn) c.5392C>A (p.His1798Asn) c.5140C>A (p.His1714Asn) c.3886C>A (p.His1296Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088242C= | CA2202031672 | TSC2 | c.*3525C= (n.*3525C=) c.5023C= (p.His1675=) c.5173C= (p.His1725=) c.*5689C= (n.*5689C=) c.*7925C= (n.*7925C=) c.5176C= (p.His1726=) c.5107C= (p.His1703=) c.4975C= (p.His1659=) c.5008C= (p.His1670=) c.1399C= n.3058C= c.3830C= c.5035C= (p.His1679=) n.773C= c.4978C= (p.His1660=) c.5044C= (p.His1682=) c.4969C= (p.His1657=) n.2824C= c.5101C= (p.His1701=) c.5047C= (p.His1683=) c.5062C= (p.His1688=) c.4972C= (p.His1658=) c.5097C= n.3260C= c.5170C= (p.His1724=) n.3991C= n.2428C= n.2399C= n.2289C= c.4831C= (p.His1611=) c.*4343C= (n.*4343C=) c.4867C= (p.His1623=) n.2899C= c.1358C= n.2291C= c.5230C= (p.His1744=) c.5227C= (p.His1743=) c.5119C= (p.His1707=) c.5098C= (p.His1700=) c.4444C= (p.His1482=) c.5392C= (p.His1798=) c.5140C= (p.His1714=) c.3886C= (p.His1296=) | |
16 | g.2088242C>G | CA394314042 | TSC2 | c.*3525C>G (n.*3525C>G) c.5023C>G (p.His1675Asp) c.5173C>G (p.His1725Asp) c.*5689C>G (n.*5689C>G) c.*7925C>G (n.*7925C>G) c.5176C>G (p.His1726Asp) c.5107C>G (p.His1703Asp) c.4975C>G (p.His1659Asp) c.5008C>G (p.His1670Asp) c.1399C>G n.3058C>G c.3830C>G c.5035C>G (p.His1679Asp) n.773C>G c.4978C>G (p.His1660Asp) c.5044C>G (p.His1682Asp) c.4969C>G (p.His1657Asp) n.2824C>G c.5101C>G (p.His1701Asp) c.5047C>G (p.His1683Asp) c.5062C>G (p.His1688Asp) c.4972C>G (p.His1658Asp) c.5097C>G n.3260C>G c.5170C>G (p.His1724Asp) n.3991C>G n.2428C>G n.2399C>G n.2289C>G c.4831C>G (p.His1611Asp) c.*4343C>G (n.*4343C>G) c.4867C>G (p.His1623Asp) n.2899C>G c.1358C>G n.2291C>G c.5230C>G (p.His1744Asp) c.5227C>G (p.His1743Asp) c.5119C>G (p.His1707Asp) c.5098C>G (p.His1700Asp) c.4444C>G (p.His1482Asp) c.5392C>G (p.His1798Asp) c.5140C>G (p.His1714Asp) c.3886C>G (p.His1296Asp) | ClinVar dbSNP |
16 | g.2088242C>T | CA054330 | TSC2 | c.*3525C>T (n.*3525C>T) c.5023C>T (p.His1675Tyr) c.5173C>T (p.His1725Tyr) c.*5689C>T (n.*5689C>T) c.*7925C>T (n.*7925C>T) c.5176C>T (p.His1726Tyr) c.5107C>T (p.His1703Tyr) c.4975C>T (p.His1659Tyr) c.5008C>T (p.His1670Tyr) c.1399C>T n.3058C>T c.3830C>T c.5035C>T (p.His1679Tyr) n.773C>T c.4978C>T (p.His1660Tyr) c.5044C>T (p.His1682Tyr) c.4969C>T (p.His1657Tyr) n.2824C>T c.5101C>T (p.His1701Tyr) c.5047C>T (p.His1683Tyr) c.5062C>T (p.His1688Tyr) c.4972C>T (p.His1658Tyr) c.5097C>T n.3260C>T c.5170C>T (p.His1724Tyr) n.3991C>T n.2428C>T n.2399C>T n.2289C>T c.4831C>T (p.His1611Tyr) c.*4343C>T (n.*4343C>T) c.4867C>T (p.His1623Tyr) n.2899C>T c.1358C>T n.2291C>T c.5230C>T (p.His1744Tyr) c.5227C>T (p.His1743Tyr) c.5119C>T (p.His1707Tyr) c.5098C>T (p.His1700Tyr) c.4444C>T (p.His1482Tyr) c.5392C>T (p.His1798Tyr) c.5140C>T (p.His1714Tyr) c.3886C>T (p.His1296Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088242dup | CA022083 | TSC2 | c.*3525dup (n.*3525dup) c.5023dup (p.His1675ProfsTer3) c.5173dup (p.His1725ProfsTer3) c.*5689dup (n.*5689dup) c.*7925dup (n.*7925dup) c.5176dup (p.His1726ProfsTer3) c.5107dup (p.His1703ProfsTer3) c.4975dup (p.His1659ProfsTer3) c.5008dup (p.His1670ProfsTer3) c.1399dup n.3058dup c.3830dup c.5035dup (p.His1679ProfsTer3) n.773dup c.4978dup (p.His1660ProfsTer3) c.5044dup (p.His1682ProfsTer3) c.4969dup (p.His1657ProfsTer3) n.2824dup c.5101dup (p.His1701ProfsTer3) c.5047dup (p.His1683ProfsTer3) c.5062dup (p.His1688ProfsTer3) c.4972dup (p.His1658ProfsTer3) c.5097dup n.3260dup c.5170dup (p.His1724ProfsTer3) n.3991dup n.2428dup n.2399dup n.2289dup c.4831dup (p.His1611ProfsTer3) c.*4343dup (n.*4343dup) c.4867dup (p.His1623ProfsTer3) n.2899dup c.1358dup n.2291dup c.5230dup (p.His1744ProfsTer3) c.5227dup (p.His1743ProfsTer3) c.5119dup (p.His1707ProfsTer3) c.5098dup (p.His1700ProfsTer3) c.4444dup (p.His1482ProfsTer3) c.5392dup (p.His1798ProfsTer3) c.5140dup (p.His1714ProfsTer3) c.3886dup (p.His1296ProfsTer3) | ClinVar dbSNP |
16 | g.2088242_2088243insTTTTTA | CA973770577 | TSC2 | c.*3525_*3526insTTTTTA (n.*3525_*3526insTTTTTA) c.5023_5024insTTTTTA (p.His1675delinsLeuPheAsn) c.5173_5174insTTTTTA (p.His1725delinsLeuPheAsn) c.*5689_*5690insTTTTTA (n.*5689_*5690insTTTTTA) c.*7925_*7926insTTTTTA (n.*7925_*7926insTTTTTA) c.5176_5177insTTTTTA (p.His1726delinsLeuPheAsn) c.5107_5108insTTTTTA (p.His1703delinsLeuPheAsn) c.4975_4976insTTTTTA (p.His1659delinsLeuPheAsn) c.5008_5009insTTTTTA (p.His1670delinsLeuPheAsn) c.1399_1400insTTTTTA n.3058_3059insTTTTTA c.3830_3831insTTTTTA c.5035_5036insTTTTTA (p.His1679delinsLeuPheAsn) n.773_774insTTTTTA c.4978_4979insTTTTTA (p.His1660delinsLeuPheAsn) c.5044_5045insTTTTTA (p.His1682delinsLeuPheAsn) c.4969_4970insTTTTTA (p.His1657delinsLeuPheAsn) n.2824_2825insTTTTTA c.5101_5102insTTTTTA (p.His1701delinsLeuPheAsn) c.5047_5048insTTTTTA (p.His1683delinsLeuPheAsn) c.5062_5063insTTTTTA (p.His1688delinsLeuPheAsn) c.4972_4973insTTTTTA (p.His1658delinsLeuPheAsn) c.5097_5098insTTTTTA n.3260_3261insTTTTTA c.5170_5171insTTTTTA (p.His1724delinsLeuPheAsn) n.3991_3992insTTTTTA n.2428_2429insTTTTTA n.2399_2400insTTTTTA n.2289_2290insTTTTTA c.4831_4832insTTTTTA (p.His1611delinsLeuPheAsn) c.*4343_*4344insTTTTTA (n.*4343_*4344insTTTTTA) c.4867_4868insTTTTTA (p.His1623delinsLeuPheAsn) n.2899_2900insTTTTTA c.1358_1359insTTTTTA n.2291_2292insTTTTTA c.5230_5231insTTTTTA (p.His1744delinsLeuPheAsn) c.5227_5228insTTTTTA (p.His1743delinsLeuPheAsn) c.5119_5120insTTTTTA (p.His1707delinsLeuPheAsn) c.5098_5099insTTTTTA (p.His1700delinsLeuPheAsn) c.4444_4445insTTTTTA (p.His1482delinsLeuPheAsn) c.5392_5393insTTTTTA (p.His1798delinsLeuPheAsn) c.5140_5141insTTTTTA (p.His1714delinsLeuPheAsn) c.3886_3887insTTTTTA (p.His1296delinsLeuPheAsn) | gnomAD v3 gnomAD v4 |
16 | g.2088242_2088243insTTTTTTA | CA2631118471 | TSC2 | c.*3525_*3526insTTTTTTA (n.*3525_*3526insTTTTTTA) c.5023_5024insTTTTTTA (p.His1675LeufsTer3) c.5173_5174insTTTTTTA (p.His1725LeufsTer3) c.*5689_*5690insTTTTTTA (n.*5689_*5690insTTTTTTA) c.*7925_*7926insTTTTTTA (n.*7925_*7926insTTTTTTA) c.5176_5177insTTTTTTA (p.His1726LeufsTer3) c.5107_5108insTTTTTTA (p.His1703LeufsTer3) c.4975_4976insTTTTTTA (p.His1659LeufsTer3) c.5008_5009insTTTTTTA (p.His1670LeufsTer3) c.1399_1400insTTTTTTA n.3058_3059insTTTTTTA c.3830_3831insTTTTTTA c.5035_5036insTTTTTTA (p.His1679LeufsTer3) n.773_774insTTTTTTA c.4978_4979insTTTTTTA (p.His1660LeufsTer3) c.5044_5045insTTTTTTA (p.His1682LeufsTer3) c.4969_4970insTTTTTTA (p.His1657LeufsTer3) n.2824_2825insTTTTTTA c.5101_5102insTTTTTTA (p.His1701LeufsTer3) c.5047_5048insTTTTTTA (p.His1683LeufsTer3) c.5062_5063insTTTTTTA (p.His1688LeufsTer3) c.4972_4973insTTTTTTA (p.His1658LeufsTer3) c.5097_5098insTTTTTTA n.3260_3261insTTTTTTA c.5170_5171insTTTTTTA (p.His1724LeufsTer3) n.3991_3992insTTTTTTA n.2428_2429insTTTTTTA n.2399_2400insTTTTTTA n.2289_2290insTTTTTTA c.4831_4832insTTTTTTA (p.His1611LeufsTer3) c.*4343_*4344insTTTTTTA (n.*4343_*4344insTTTTTTA) c.4867_4868insTTTTTTA (p.His1623LeufsTer3) n.2899_2900insTTTTTTA c.1358_1359insTTTTTTA n.2291_2292insTTTTTTA c.5230_5231insTTTTTTA (p.His1744LeufsTer3) c.5227_5228insTTTTTTA (p.His1743LeufsTer3) c.5119_5120insTTTTTTA (p.His1707LeufsTer3) c.5098_5099insTTTTTTA (p.His1700LeufsTer3) c.4444_4445insTTTTTTA (p.His1482LeufsTer3) c.5392_5393insTTTTTTA (p.His1798LeufsTer3) c.5140_5141insTTTTTTA (p.His1714LeufsTer3) c.3886_3887insTTTTTTA (p.His1296LeufsTer3) | gnomAD v4 |
16 | g.2088242_2088243insTTTTTTTA | CA973770579 | TSC2 | c.*3525_*3526insTTTTTTTA (n.*3525_*3526insTTTTTTTA) c.5023_5024insTTTTTTTA (p.His1675LeufsTer?) c.5173_5174insTTTTTTTA (p.His1725LeufsTer?) c.*5689_*5690insTTTTTTTA (n.*5689_*5690insTTTTTTTA) c.*7925_*7926insTTTTTTTA (n.*7925_*7926insTTTTTTTA) c.5176_5177insTTTTTTTA (p.His1726LeufsTer?) c.5107_5108insTTTTTTTA (p.His1703LeufsTer?) c.4975_4976insTTTTTTTA (p.His1659LeufsTer?) c.5008_5009insTTTTTTTA (p.His1670LeufsTer?) c.1399_1400insTTTTTTTA n.3058_3059insTTTTTTTA c.3830_3831insTTTTTTTA c.5035_5036insTTTTTTTA (p.His1679LeufsTer?) n.773_774insTTTTTTTA c.4978_4979insTTTTTTTA (p.His1660LeufsTer?) c.5044_5045insTTTTTTTA (p.His1682LeufsTer?) c.4969_4970insTTTTTTTA (p.His1657LeufsTer?) n.2824_2825insTTTTTTTA c.5101_5102insTTTTTTTA (p.His1701LeufsTer?) c.5047_5048insTTTTTTTA (p.His1683LeufsTer?) c.5062_5063insTTTTTTTA (p.His1688LeufsTer?) c.4972_4973insTTTTTTTA (p.His1658LeufsTer?) c.5097_5098insTTTTTTTA n.3260_3261insTTTTTTTA c.5170_5171insTTTTTTTA (p.His1724LeufsTer?) n.3991_3992insTTTTTTTA n.2428_2429insTTTTTTTA n.2399_2400insTTTTTTTA n.2289_2290insTTTTTTTA c.4831_4832insTTTTTTTA (p.His1611LeufsTer?) c.*4343_*4344insTTTTTTTA (n.*4343_*4344insTTTTTTTA) c.4867_4868insTTTTTTTA (p.His1623LeufsTer?) n.2899_2900insTTTTTTTA c.1358_1359insTTTTTTTA n.2291_2292insTTTTTTTA c.5230_5231insTTTTTTTA (p.His1744LeufsTer?) c.5227_5228insTTTTTTTA (p.His1743LeufsTer?) c.5119_5120insTTTTTTTA (p.His1707LeufsTer?) c.5098_5099insTTTTTTTA (p.His1700LeufsTer?) c.4444_4445insTTTTTTTA (p.His1482LeufsTer?) c.5392_5393insTTTTTTTA (p.His1798LeufsTer?) c.5140_5141insTTTTTTTA (p.His1714LeufsTer?) c.3886_3887insTTTTTTTA (p.His1296LeufsTer?) | gnomAD v3 gnomAD v4 |
16 | g.2088243A= | CA2202031683 | TSC2 | c.*3526A= (n.*3526A=) c.5024A= (p.His1675=) c.5174A= (p.His1725=) c.*5690A= (n.*5690A=) c.*7926A= (n.*7926A=) c.5177A= (p.His1726=) c.5108A= (p.His1703=) c.4976A= (p.His1659=) c.5009A= (p.His1670=) c.1400A= n.3059A= c.3831A= c.5036A= (p.His1679=) n.774A= c.4979A= (p.His1660=) c.5045A= (p.His1682=) c.4970A= (p.His1657=) n.2825A= c.5102A= (p.His1701=) c.5048A= (p.His1683=) c.5063A= (p.His1688=) c.4973A= (p.His1658=) c.5098A= n.3261A= c.5171A= (p.His1724=) n.3992A= n.2429A= n.2400A= n.2290A= c.4832A= (p.His1611=) c.*4344A= (n.*4344A=) c.4868A= (p.His1623=) n.2900A= c.1359A= n.2292A= c.5231A= (p.His1744=) c.5228A= (p.His1743=) c.5120A= (p.His1707=) c.5099A= (p.His1700=) c.4445A= (p.His1482=) c.5393A= (p.His1798=) c.5141A= (p.His1714=) c.3887A= (p.His1296=) | |
16 | g.2088243A>C | CA394314050 | TSC2 | c.*3526A>C (n.*3526A>C) c.5024A>C (p.His1675Pro) c.5174A>C (p.His1725Pro) c.*5690A>C (n.*5690A>C) c.*7926A>C (n.*7926A>C) c.5177A>C (p.His1726Pro) c.5108A>C (p.His1703Pro) c.4976A>C (p.His1659Pro) c.5009A>C (p.His1670Pro) c.1400A>C n.3059A>C c.3831A>C c.5036A>C (p.His1679Pro) n.774A>C c.4979A>C (p.His1660Pro) c.5045A>C (p.His1682Pro) c.4970A>C (p.His1657Pro) n.2825A>C c.5102A>C (p.His1701Pro) c.5048A>C (p.His1683Pro) c.5063A>C (p.His1688Pro) c.4973A>C (p.His1658Pro) c.5098A>C n.3261A>C c.5171A>C (p.His1724Pro) n.3992A>C n.2429A>C n.2400A>C n.2290A>C c.4832A>C (p.His1611Pro) c.*4344A>C (n.*4344A>C) c.4868A>C (p.His1623Pro) n.2900A>C c.1359A>C n.2292A>C c.5231A>C (p.His1744Pro) c.5228A>C (p.His1743Pro) c.5120A>C (p.His1707Pro) c.5099A>C (p.His1700Pro) c.4445A>C (p.His1482Pro) c.5393A>C (p.His1798Pro) c.5141A>C (p.His1714Pro) c.3887A>C (p.His1296Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088243A>G | CA394314053 | TSC2 | c.*3526A>G (n.*3526A>G) c.5024A>G (p.His1675Arg) c.5174A>G (p.His1725Arg) c.*5690A>G (n.*5690A>G) c.*7926A>G (n.*7926A>G) c.5177A>G (p.His1726Arg) c.5108A>G (p.His1703Arg) c.4976A>G (p.His1659Arg) c.5009A>G (p.His1670Arg) c.1400A>G n.3059A>G c.3831A>G c.5036A>G (p.His1679Arg) n.774A>G c.4979A>G (p.His1660Arg) c.5045A>G (p.His1682Arg) c.4970A>G (p.His1657Arg) n.2825A>G c.5102A>G (p.His1701Arg) c.5048A>G (p.His1683Arg) c.5063A>G (p.His1688Arg) c.4973A>G (p.His1658Arg) c.5098A>G n.3261A>G c.5171A>G (p.His1724Arg) n.3992A>G n.2429A>G n.2400A>G n.2290A>G c.4832A>G (p.His1611Arg) c.*4344A>G (n.*4344A>G) c.4868A>G (p.His1623Arg) n.2900A>G c.1359A>G n.2292A>G c.5231A>G (p.His1744Arg) c.5228A>G (p.His1743Arg) c.5120A>G (p.His1707Arg) c.5099A>G (p.His1700Arg) c.4445A>G (p.His1482Arg) c.5393A>G (p.His1798Arg) c.5141A>G (p.His1714Arg) c.3887A>G (p.His1296Arg) | |
16 | g.2088243A>T | CA394314059 | TSC2 | c.*3526A>T (n.*3526A>T) c.5024A>T (p.His1675Leu) c.5174A>T (p.His1725Leu) c.*5690A>T (n.*5690A>T) c.*7926A>T (n.*7926A>T) c.5177A>T (p.His1726Leu) c.5108A>T (p.His1703Leu) c.4976A>T (p.His1659Leu) c.5009A>T (p.His1670Leu) c.1400A>T n.3059A>T c.3831A>T c.5036A>T (p.His1679Leu) n.774A>T c.4979A>T (p.His1660Leu) c.5045A>T (p.His1682Leu) c.4970A>T (p.His1657Leu) n.2825A>T c.5102A>T (p.His1701Leu) c.5048A>T (p.His1683Leu) c.5063A>T (p.His1688Leu) c.4973A>T (p.His1658Leu) c.5098A>T n.3261A>T c.5171A>T (p.His1724Leu) n.3992A>T n.2429A>T n.2400A>T n.2290A>T c.4832A>T (p.His1611Leu) c.*4344A>T (n.*4344A>T) c.4868A>T (p.His1623Leu) n.2900A>T c.1359A>T n.2292A>T c.5231A>T (p.His1744Leu) c.5228A>T (p.His1743Leu) c.5120A>T (p.His1707Leu) c.5099A>T (p.His1700Leu) c.4445A>T (p.His1482Leu) c.5393A>T (p.His1798Leu) c.5141A>T (p.His1714Leu) c.3887A>T (p.His1296Leu) | ClinVar dbSNP |
16 | g.2088243_2088244insG | CA973770584 | TSC2 | c.*3526_*3527insG (n.*3526_*3527insG) c.5024_5025insG (p.His1675GlnfsTer3) c.5174_5175insG (p.His1725GlnfsTer3) c.*5690_*5691insG (n.*5690_*5691insG) c.*7926_*7927insG (n.*7926_*7927insG) c.5177_5178insG (p.His1726GlnfsTer3) c.5108_5109insG (p.His1703GlnfsTer3) c.4976_4977insG (p.His1659GlnfsTer3) c.5009_5010insG (p.His1670GlnfsTer3) c.1400_1401insG n.3059_3060insG c.3831_3832insG c.5036_5037insG (p.His1679GlnfsTer3) n.774_775insG c.4979_4980insG (p.His1660GlnfsTer3) c.5045_5046insG (p.His1682GlnfsTer3) c.4970_4971insG (p.His1657GlnfsTer3) n.2825_2826insG c.5102_5103insG (p.His1701GlnfsTer3) c.5048_5049insG (p.His1683GlnfsTer3) c.5063_5064insG (p.His1688GlnfsTer3) c.4973_4974insG (p.His1658GlnfsTer3) c.5098_5099insG n.3261_3262insG c.5171_5172insG (p.His1724GlnfsTer3) n.3992_3993insG n.2429_2430insG n.2400_2401insG n.2290_2291insG c.4832_4833insG (p.His1611GlnfsTer3) c.*4344_*4345insG (n.*4344_*4345insG) c.4868_4869insG (p.His1623GlnfsTer3) n.2900_2901insG c.1359_1360insG n.2292_2293insG c.5231_5232insG (p.His1744GlnfsTer3) c.5228_5229insG (p.His1743GlnfsTer3) c.5120_5121insG (p.His1707GlnfsTer3) c.5099_5100insG (p.His1700GlnfsTer3) c.4445_4446insG (p.His1482GlnfsTer3) c.5393_5394insG (p.His1798GlnfsTer3) c.5141_5142insG (p.His1714GlnfsTer3) c.3887_3888insG (p.His1296GlnfsTer3) | gnomAD v3 gnomAD v4 |
16 | g.2088244T>A | CA394314064 | TSC2 | c.*3527T>A (n.*3527T>A) c.5025T>A (p.His1675Gln) c.5175T>A (p.His1725Gln) c.*5691T>A (n.*5691T>A) c.*7927T>A (n.*7927T>A) c.5178T>A (p.His1726Gln) c.5109T>A (p.His1703Gln) c.4977T>A (p.His1659Gln) c.5010T>A (p.His1670Gln) c.1401T>A n.3060T>A c.3832T>A c.5037T>A (p.His1679Gln) n.775T>A c.4980T>A (p.His1660Gln) c.5046T>A (p.His1682Gln) c.4971T>A (p.His1657Gln) n.2826T>A c.5103T>A (p.His1701Gln) c.5049T>A (p.His1683Gln) c.5064T>A (p.His1688Gln) c.4974T>A (p.His1658Gln) c.5099T>A n.3262T>A c.5172T>A (p.His1724Gln) n.3993T>A n.2430T>A n.2401T>A n.2291T>A c.4833T>A (p.His1611Gln) c.*4345T>A (n.*4345T>A) c.4869T>A (p.His1623Gln) n.2901T>A c.1360T>A n.2293T>A c.5232T>A (p.His1744Gln) c.5229T>A (p.His1743Gln) c.5121T>A (p.His1707Gln) c.5100T>A (p.His1700Gln) c.4446T>A (p.His1482Gln) c.5394T>A (p.His1798Gln) c.5142T>A (p.His1714Gln) c.3888T>A (p.His1296Gln) | dbSNP |
16 | g.2088244T>C | CA493043742 | TSC2 | c.*3527T>C (n.*3527T>C) c.5025T>C (p.His1675=) c.5175T>C (p.His1725=) c.*5691T>C (n.*5691T>C) c.*7927T>C (n.*7927T>C) c.5178T>C (p.His1726=) c.5109T>C (p.His1703=) c.4977T>C (p.His1659=) c.5010T>C (p.His1670=) c.1401T>C n.3060T>C c.3832T>C c.5037T>C (p.His1679=) n.775T>C c.4980T>C (p.His1660=) c.5046T>C (p.His1682=) c.4971T>C (p.His1657=) n.2826T>C c.5103T>C (p.His1701=) c.5049T>C (p.His1683=) c.5064T>C (p.His1688=) c.4974T>C (p.His1658=) c.5099T>C n.3262T>C c.5172T>C (p.His1724=) n.3993T>C n.2430T>C n.2401T>C n.2291T>C c.4833T>C (p.His1611=) c.*4345T>C (n.*4345T>C) c.4869T>C (p.His1623=) n.2901T>C c.1360T>C n.2293T>C c.5232T>C (p.His1744=) c.5229T>C (p.His1743=) c.5121T>C (p.His1707=) c.5100T>C (p.His1700=) c.4446T>C (p.His1482=) c.5394T>C (p.His1798=) c.5142T>C (p.His1714=) c.3888T>C (p.His1296=) | dbSNP |
16 | g.2088244T>G | CA394314077 | TSC2 | c.*3527T>G (n.*3527T>G) c.5025T>G (p.His1675Gln) c.5175T>G (p.His1725Gln) c.*5691T>G (n.*5691T>G) c.*7927T>G (n.*7927T>G) c.5178T>G (p.His1726Gln) c.5109T>G (p.His1703Gln) c.4977T>G (p.His1659Gln) c.5010T>G (p.His1670Gln) c.1401T>G n.3060T>G c.3832T>G c.5037T>G (p.His1679Gln) n.775T>G c.4980T>G (p.His1660Gln) c.5046T>G (p.His1682Gln) c.4971T>G (p.His1657Gln) n.2826T>G c.5103T>G (p.His1701Gln) c.5049T>G (p.His1683Gln) c.5064T>G (p.His1688Gln) c.4974T>G (p.His1658Gln) c.5099T>G n.3262T>G c.5172T>G (p.His1724Gln) n.3993T>G n.2430T>G n.2401T>G n.2291T>G c.4833T>G (p.His1611Gln) c.*4345T>G (n.*4345T>G) c.4869T>G (p.His1623Gln) n.2901T>G c.1360T>G n.2293T>G c.5232T>G (p.His1744Gln) c.5229T>G (p.His1743Gln) c.5121T>G (p.His1707Gln) c.5100T>G (p.His1700Gln) c.4446T>G (p.His1482Gln) c.5394T>G (p.His1798Gln) c.5142T>G (p.His1714Gln) c.3888T>G (p.His1296Gln) | |
16 | g.2088244_2088245insTGCA | CA645572654 | TSC2 | c.*3527_*3528insTGCA (n.*3527_*3528insTGCA) c.5025_5026insTGCA (p.His1676CysfsTer3) c.5175_5176insTGCA (p.His1726CysfsTer3) c.*5691_*5692insTGCA (n.*5691_*5692insTGCA) c.*7927_*7928insTGCA (n.*7927_*7928insTGCA) c.5178_5179insTGCA (p.His1727CysfsTer3) c.5109_5110insTGCA (p.His1704CysfsTer3) c.4977_4978insTGCA (p.His1660CysfsTer3) c.5010_5011insTGCA (p.His1671CysfsTer3) c.1401_1402insTGCA n.3060_3061insTGCA c.3832_3833insTGCA c.5037_5038insTGCA (p.His1680CysfsTer3) n.775_776insTGCA c.4980_4981insTGCA (p.His1661CysfsTer3) c.5046_5047insTGCA (p.His1683CysfsTer3) c.4971_4972insTGCA (p.His1658CysfsTer3) n.2826_2827insTGCA c.5103_5104insTGCA (p.His1702CysfsTer3) c.5049_5050insTGCA (p.His1684CysfsTer3) c.5064_5065insTGCA (p.His1689CysfsTer3) c.4974_4975insTGCA (p.His1659CysfsTer3) c.5099_5100insTGCA n.3262_3263insTGCA c.5172_5173insTGCA (p.His1725CysfsTer3) n.3993_3994insTGCA n.2430_2431insTGCA n.2401_2402insTGCA n.2291_2292insTGCA c.4833_4834insTGCA (p.His1612CysfsTer3) c.*4345_*4346insTGCA (n.*4345_*4346insTGCA) c.4869_4870insTGCA (p.His1624CysfsTer3) n.2901_2902insTGCA c.1360_1361insTGCA n.2293_2294insTGCA c.5232_5233insTGCA (p.His1745CysfsTer3) c.5229_5230insTGCA (p.His1744CysfsTer3) c.5121_5122insTGCA (p.His1708CysfsTer3) c.5100_5101insTGCA (p.His1701CysfsTer3) c.4446_4447insTGCA (p.His1483CysfsTer3) c.5394_5395insTGCA (p.His1799CysfsTer3) c.5142_5143insTGCA (p.His1715CysfsTer3) c.3888_3889insTGCA (p.His1297CysfsTer3) | COSMIC |
16 | g.2088245C>A | CA394314086 | TSC2 | c.*3528C>A (n.*3528C>A) c.5026C>A (p.His1676Asn) c.5176C>A (p.His1726Asn) c.*5692C>A (n.*5692C>A) c.*7928C>A (n.*7928C>A) c.5179C>A (p.His1727Asn) c.5110C>A (p.His1704Asn) c.4978C>A (p.His1660Asn) c.5011C>A (p.His1671Asn) c.1402C>A n.3061C>A c.3833C>A c.5038C>A (p.His1680Asn) n.776C>A c.4981C>A (p.His1661Asn) c.5047C>A (p.His1683Asn) c.4972C>A (p.His1658Asn) n.2827C>A c.5104C>A (p.His1702Asn) c.5050C>A (p.His1684Asn) c.5065C>A (p.His1689Asn) c.4975C>A (p.His1659Asn) c.5100C>A n.3263C>A c.5173C>A (p.His1725Asn) n.3994C>A n.2431C>A n.2402C>A n.2292C>A c.4834C>A (p.His1612Asn) c.*4346C>A (n.*4346C>A) c.4870C>A (p.His1624Asn) n.2902C>A c.1361C>A n.2294C>A c.5233C>A (p.His1745Asn) c.5230C>A (p.His1744Asn) c.5122C>A (p.His1708Asn) c.5101C>A (p.His1701Asn) c.4447C>A (p.His1483Asn) c.5395C>A (p.His1799Asn) c.5143C>A (p.His1715Asn) c.3889C>A (p.His1297Asn) | |
16 | g.2088245C= | CA2202031697 | TSC2 | c.*3528C= (n.*3528C=) c.5026C= (p.His1676=) c.5176C= (p.His1726=) c.*5692C= (n.*5692C=) c.*7928C= (n.*7928C=) c.5179C= (p.His1727=) c.5110C= (p.His1704=) c.4978C= (p.His1660=) c.5011C= (p.His1671=) c.1402C= n.3061C= c.3833C= c.5038C= (p.His1680=) n.776C= c.4981C= (p.His1661=) c.5047C= (p.His1683=) c.4972C= (p.His1658=) n.2827C= c.5104C= (p.His1702=) c.5050C= (p.His1684=) c.5065C= (p.His1689=) c.4975C= (p.His1659=) c.5100C= n.3263C= c.5173C= (p.His1725=) n.3994C= n.2431C= n.2402C= n.2292C= c.4834C= (p.His1612=) c.*4346C= (n.*4346C=) c.4870C= (p.His1624=) n.2902C= c.1361C= n.2294C= c.5233C= (p.His1745=) c.5230C= (p.His1744=) c.5122C= (p.His1708=) c.5101C= (p.His1701=) c.4447C= (p.His1483=) c.5395C= (p.His1799=) c.5143C= (p.His1715=) c.3889C= (p.His1297=) | |
16 | g.2088245C>G | CA394314084 | TSC2 | c.*3528C>G (n.*3528C>G) c.5026C>G (p.His1676Asp) c.5176C>G (p.His1726Asp) c.*5692C>G (n.*5692C>G) c.*7928C>G (n.*7928C>G) c.5179C>G (p.His1727Asp) c.5110C>G (p.His1704Asp) c.4978C>G (p.His1660Asp) c.5011C>G (p.His1671Asp) c.1402C>G n.3061C>G c.3833C>G c.5038C>G (p.His1680Asp) n.776C>G c.4981C>G (p.His1661Asp) c.5047C>G (p.His1683Asp) c.4972C>G (p.His1658Asp) n.2827C>G c.5104C>G (p.His1702Asp) c.5050C>G (p.His1684Asp) c.5065C>G (p.His1689Asp) c.4975C>G (p.His1659Asp) c.5100C>G n.3263C>G c.5173C>G (p.His1725Asp) n.3994C>G n.2431C>G n.2402C>G n.2292C>G c.4834C>G (p.His1612Asp) c.*4346C>G (n.*4346C>G) c.4870C>G (p.His1624Asp) n.2902C>G c.1361C>G n.2294C>G c.5233C>G (p.His1745Asp) c.5230C>G (p.His1744Asp) c.5122C>G (p.His1708Asp) c.5101C>G (p.His1701Asp) c.4447C>G (p.His1483Asp) c.5395C>G (p.His1799Asp) c.5143C>G (p.His1715Asp) c.3889C>G (p.His1297Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088245C>T | CA394314081 | TSC2 | c.*3528C>T (n.*3528C>T) c.5026C>T (p.His1676Tyr) c.5176C>T (p.His1726Tyr) c.*5692C>T (n.*5692C>T) c.*7928C>T (n.*7928C>T) c.5179C>T (p.His1727Tyr) c.5110C>T (p.His1704Tyr) c.4978C>T (p.His1660Tyr) c.5011C>T (p.His1671Tyr) c.1402C>T n.3061C>T c.3833C>T c.5038C>T (p.His1680Tyr) n.776C>T c.4981C>T (p.His1661Tyr) c.5047C>T (p.His1683Tyr) c.4972C>T (p.His1658Tyr) n.2827C>T c.5104C>T (p.His1702Tyr) c.5050C>T (p.His1684Tyr) c.5065C>T (p.His1689Tyr) c.4975C>T (p.His1659Tyr) c.5100C>T n.3263C>T c.5173C>T (p.His1725Tyr) n.3994C>T n.2431C>T n.2402C>T n.2292C>T c.4834C>T (p.His1612Tyr) c.*4346C>T (n.*4346C>T) c.4870C>T (p.His1624Tyr) n.2902C>T c.1361C>T n.2294C>T c.5233C>T (p.His1745Tyr) c.5230C>T (p.His1744Tyr) c.5122C>T (p.His1708Tyr) c.5101C>T (p.His1701Tyr) c.4447C>T (p.His1483Tyr) c.5395C>T (p.His1799Tyr) c.5143C>T (p.His1715Tyr) c.3889C>T (p.His1297Tyr) | dbSNP gnomAD v4 |
16 | g.2088246A= | CA2202031710 | TSC2 | c.*3529A= (n.*3529A=) c.5027A= (p.His1676=) c.5177A= (p.His1726=) c.*5693A= (n.*5693A=) c.*7929A= (n.*7929A=) c.5180A= (p.His1727=) c.5111A= (p.His1704=) c.4979A= (p.His1660=) c.5012A= (p.His1671=) c.1403A= n.3062A= c.3834A= c.5039A= (p.His1680=) n.777A= c.4982A= (p.His1661=) c.5048A= (p.His1683=) c.4973A= (p.His1658=) n.2828A= c.5105A= (p.His1702=) c.5051A= (p.His1684=) c.5066A= (p.His1689=) c.4976A= (p.His1659=) c.5101A= n.3264A= c.5174A= (p.His1725=) n.3995A= n.2432A= n.2403A= n.2293A= c.4835A= (p.His1612=) c.*4347A= (n.*4347A=) c.4871A= (p.His1624=) n.2903A= c.1362A= n.2295A= c.5234A= (p.His1745=) c.5231A= (p.His1744=) c.5123A= (p.His1708=) c.5102A= (p.His1701=) c.4448A= (p.His1483=) c.5396A= (p.His1799=) c.5144A= (p.His1715=) c.3890A= (p.His1297=) | |
16 | g.2088246A>C | CA394314092 | TSC2 | c.*3529A>C (n.*3529A>C) c.5027A>C (p.His1676Pro) c.5177A>C (p.His1726Pro) c.*5693A>C (n.*5693A>C) c.*7929A>C (n.*7929A>C) c.5180A>C (p.His1727Pro) c.5111A>C (p.His1704Pro) c.4979A>C (p.His1660Pro) c.5012A>C (p.His1671Pro) c.1403A>C n.3062A>C c.3834A>C c.5039A>C (p.His1680Pro) n.777A>C c.4982A>C (p.His1661Pro) c.5048A>C (p.His1683Pro) c.4973A>C (p.His1658Pro) n.2828A>C c.5105A>C (p.His1702Pro) c.5051A>C (p.His1684Pro) c.5066A>C (p.His1689Pro) c.4976A>C (p.His1659Pro) c.5101A>C n.3264A>C c.5174A>C (p.His1725Pro) n.3995A>C n.2432A>C n.2403A>C n.2293A>C c.4835A>C (p.His1612Pro) c.*4347A>C (n.*4347A>C) c.4871A>C (p.His1624Pro) n.2903A>C c.1362A>C n.2295A>C c.5234A>C (p.His1745Pro) c.5231A>C (p.His1744Pro) c.5123A>C (p.His1708Pro) c.5102A>C (p.His1701Pro) c.4448A>C (p.His1483Pro) c.5396A>C (p.His1799Pro) c.5144A>C (p.His1715Pro) c.3890A>C (p.His1297Pro) | dbSNP |
16 | g.2088246A>G | CA394314093 | TSC2 | c.*3529A>G (n.*3529A>G) c.5027A>G (p.His1676Arg) c.5177A>G (p.His1726Arg) c.*5693A>G (n.*5693A>G) c.*7929A>G (n.*7929A>G) c.5180A>G (p.His1727Arg) c.5111A>G (p.His1704Arg) c.4979A>G (p.His1660Arg) c.5012A>G (p.His1671Arg) c.1403A>G n.3062A>G c.3834A>G c.5039A>G (p.His1680Arg) n.777A>G c.4982A>G (p.His1661Arg) c.5048A>G (p.His1683Arg) c.4973A>G (p.His1658Arg) n.2828A>G c.5105A>G (p.His1702Arg) c.5051A>G (p.His1684Arg) c.5066A>G (p.His1689Arg) c.4976A>G (p.His1659Arg) c.5101A>G n.3264A>G c.5174A>G (p.His1725Arg) n.3995A>G n.2432A>G n.2403A>G n.2293A>G c.4835A>G (p.His1612Arg) c.*4347A>G (n.*4347A>G) c.4871A>G (p.His1624Arg) n.2903A>G c.1362A>G n.2295A>G c.5234A>G (p.His1745Arg) c.5231A>G (p.His1744Arg) c.5123A>G (p.His1708Arg) c.5102A>G (p.His1701Arg) c.4448A>G (p.His1483Arg) c.5396A>G (p.His1799Arg) c.5144A>G (p.His1715Arg) c.3890A>G (p.His1297Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.2088246A>T | CA394314094 | TSC2 | c.*3529A>T (n.*3529A>T) c.5027A>T (p.His1676Leu) c.5177A>T (p.His1726Leu) c.*5693A>T (n.*5693A>T) c.*7929A>T (n.*7929A>T) c.5180A>T (p.His1727Leu) c.5111A>T (p.His1704Leu) c.4979A>T (p.His1660Leu) c.5012A>T (p.His1671Leu) c.1403A>T n.3062A>T c.3834A>T c.5039A>T (p.His1680Leu) n.777A>T c.4982A>T (p.His1661Leu) c.5048A>T (p.His1683Leu) c.4973A>T (p.His1658Leu) n.2828A>T c.5105A>T (p.His1702Leu) c.5051A>T (p.His1684Leu) c.5066A>T (p.His1689Leu) c.4976A>T (p.His1659Leu) c.5101A>T n.3264A>T c.5174A>T (p.His1725Leu) n.3995A>T n.2432A>T n.2403A>T n.2293A>T c.4835A>T (p.His1612Leu) c.*4347A>T (n.*4347A>T) c.4871A>T (p.His1624Leu) n.2903A>T c.1362A>T n.2295A>T c.5234A>T (p.His1745Leu) c.5231A>T (p.His1744Leu) c.5123A>T (p.His1708Leu) c.5102A>T (p.His1701Leu) c.4448A>T (p.His1483Leu) c.5396A>T (p.His1799Leu) c.5144A>T (p.His1715Leu) c.3890A>T (p.His1297Leu) | ClinVar dbSNP |
16 | g.2088247_2088248del | CA2695221753 | TSC2 | c.*3530_*3531del (n.*3530_*3531del) c.5028_5029del (p.His1676GlnfsTer?) c.5178_5179del (p.His1726GlnfsTer?) c.*5694_*5695del (n.*5694_*5695del) c.*7930_*7931del (n.*7930_*7931del) c.5181_5182del (p.His1727GlnfsTer?) c.5112_5113del (p.His1704GlnfsTer?) c.4980_4981del (p.His1660GlnfsTer?) c.5013_5014del (p.His1671GlnfsTer?) c.1404_1405del n.3063_3064del c.3835_3836del c.5040_5041del (p.His1680GlnfsTer?) n.778_779del c.4983_4984del (p.His1661GlnfsTer?) c.5049_5050del (p.His1683GlnfsTer?) c.4974_4975del (p.His1658GlnfsTer?) n.2829_2830del c.5106_5107del (p.His1702GlnfsTer?) c.5052_5053del (p.His1684GlnfsTer?) c.5067_5068del (p.His1689GlnfsTer?) c.4977_4978del (p.His1659GlnfsTer?) c.5102_5103del n.3265_3266del c.5175_5176del (p.His1725GlnfsTer?) n.3996_3997del n.2433_2434del n.2404_2405del n.2294_2295del c.4836_4837del (p.His1612GlnfsTer?) c.*4348_*4349del (n.*4348_*4349del) c.4872_4873del (p.His1624GlnfsTer?) n.2904_2905del c.1363_1364del n.2296_2297del c.5235_5236del (p.His1745GlnfsTer?) c.5232_5233del (p.His1744GlnfsTer?) c.5124_5125del (p.His1708GlnfsTer?) c.5103_5104del (p.His1701GlnfsTer?) c.4449_4450del (p.His1483GlnfsTer?) c.5397_5398del (p.His1799GlnfsTer?) c.5145_5146del (p.His1715GlnfsTer?) c.3891_3892del (p.His1297GlnfsTer?) | |
16 | g.2088247T>A | CA394314096 | TSC2 | c.*3530T>A (n.*3530T>A) c.5028T>A (p.His1676Gln) c.5178T>A (p.His1726Gln) c.*5694T>A (n.*5694T>A) c.*7930T>A (n.*7930T>A) c.5181T>A (p.His1727Gln) c.5112T>A (p.His1704Gln) c.4980T>A (p.His1660Gln) c.5013T>A (p.His1671Gln) c.1404T>A n.3063T>A c.3835T>A c.5040T>A (p.His1680Gln) n.778T>A c.4983T>A (p.His1661Gln) c.5049T>A (p.His1683Gln) c.4974T>A (p.His1658Gln) n.2829T>A c.5106T>A (p.His1702Gln) c.5052T>A (p.His1684Gln) c.5067T>A (p.His1689Gln) c.4977T>A (p.His1659Gln) c.5102T>A n.3265T>A c.5175T>A (p.His1725Gln) n.3996T>A n.2433T>A n.2404T>A n.2294T>A c.4836T>A (p.His1612Gln) c.*4348T>A (n.*4348T>A) c.4872T>A (p.His1624Gln) n.2904T>A c.1363T>A n.2296T>A c.5235T>A (p.His1745Gln) c.5232T>A (p.His1744Gln) c.5124T>A (p.His1708Gln) c.5103T>A (p.His1701Gln) c.4449T>A (p.His1483Gln) c.5397T>A (p.His1799Gln) c.5145T>A (p.His1715Gln) c.3891T>A (p.His1297Gln) | dbSNP |
16 | g.2088247T>C | CA054336 | TSC2 | c.*3530T>C (n.*3530T>C) c.5028T>C (p.His1676=) c.5178T>C (p.His1726=) c.*5694T>C (n.*5694T>C) c.*7930T>C (n.*7930T>C) c.5181T>C (p.His1727=) c.5112T>C (p.His1704=) c.4980T>C (p.His1660=) c.5013T>C (p.His1671=) c.1404T>C n.3063T>C c.3835T>C c.5040T>C (p.His1680=) n.778T>C c.4983T>C (p.His1661=) c.5049T>C (p.His1683=) c.4974T>C (p.His1658=) n.2829T>C c.5106T>C (p.His1702=) c.5052T>C (p.His1684=) c.5067T>C (p.His1689=) c.4977T>C (p.His1659=) c.5102T>C n.3265T>C c.5175T>C (p.His1725=) n.3996T>C n.2433T>C n.2404T>C n.2294T>C c.4836T>C (p.His1612=) c.*4348T>C (n.*4348T>C) c.4872T>C (p.His1624=) n.2904T>C c.1363T>C n.2296T>C c.5235T>C (p.His1745=) c.5232T>C (p.His1744=) c.5124T>C (p.His1708=) c.5103T>C (p.His1701=) c.4449T>C (p.His1483=) c.5397T>C (p.His1799=) c.5145T>C (p.His1715=) c.3891T>C (p.His1297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088247T>G | CA394314099 | TSC2 | c.*3530T>G (n.*3530T>G) c.5028T>G (p.His1676Gln) c.5178T>G (p.His1726Gln) c.*5694T>G (n.*5694T>G) c.*7930T>G (n.*7930T>G) c.5181T>G (p.His1727Gln) c.5112T>G (p.His1704Gln) c.4980T>G (p.His1660Gln) c.5013T>G (p.His1671Gln) c.1404T>G n.3063T>G c.3835T>G c.5040T>G (p.His1680Gln) n.778T>G c.4983T>G (p.His1661Gln) c.5049T>G (p.His1683Gln) c.4974T>G (p.His1658Gln) n.2829T>G c.5106T>G (p.His1702Gln) c.5052T>G (p.His1684Gln) c.5067T>G (p.His1689Gln) c.4977T>G (p.His1659Gln) c.5102T>G n.3265T>G c.5175T>G (p.His1725Gln) n.3996T>G n.2433T>G n.2404T>G n.2294T>G c.4836T>G (p.His1612Gln) c.*4348T>G (n.*4348T>G) c.4872T>G (p.His1624Gln) n.2904T>G c.1363T>G n.2296T>G c.5235T>G (p.His1745Gln) c.5232T>G (p.His1744Gln) c.5124T>G (p.His1708Gln) c.5103T>G (p.His1701Gln) c.4449T>G (p.His1483Gln) c.5397T>G (p.His1799Gln) c.5145T>G (p.His1715Gln) c.3891T>G (p.His1297Gln) | dbSNP |
16 | g.2088247T= | CA2202031712 | TSC2 | c.*3530T= (n.*3530T=) c.5028T= (p.His1676=) c.5178T= (p.His1726=) c.*5694T= (n.*5694T=) c.*7930T= (n.*7930T=) c.5181T= (p.His1727=) c.5112T= (p.His1704=) c.4980T= (p.His1660=) c.5013T= (p.His1671=) c.1404T= n.3063T= c.3835T= c.5040T= (p.His1680=) n.778T= c.4983T= (p.His1661=) c.5049T= (p.His1683=) c.4974T= (p.His1658=) n.2829T= c.5106T= (p.His1702=) c.5052T= (p.His1684=) c.5067T= (p.His1689=) c.4977T= (p.His1659=) c.5102T= n.3265T= c.5175T= (p.His1725=) n.3996T= n.2433T= n.2404T= n.2294T= c.4836T= (p.His1612=) c.*4348T= (n.*4348T=) c.4872T= (p.His1624=) n.2904T= c.1363T= n.2296T= c.5235T= (p.His1745=) c.5232T= (p.His1744=) c.5124T= (p.His1708=) c.5103T= (p.His1701=) c.4449T= (p.His1483=) c.5397T= (p.His1799=) c.5145T= (p.His1715=) c.3891T= (p.His1297=) | |
16 | g.2088248A= | CA2202031716 | TSC2 | c.*3531A= (n.*3531A=) c.5029A= (p.Ser1677=) c.5179A= (p.Ser1727=) c.*5695A= (n.*5695A=) c.*7931A= (n.*7931A=) c.5182A= (p.Ser1728=) c.5113A= (p.Ser1705=) c.4981A= (p.Ser1661=) c.5014A= (p.Ser1672=) c.1405A= n.3064A= c.3836A= c.5041A= (p.Ser1681=) n.779A= c.4984A= (p.Ser1662=) c.5050A= (p.Ser1684=) c.4975A= (p.Ser1659=) n.2830A= c.5107A= (p.Ser1703=) c.5053A= (p.Ser1685=) c.5068A= (p.Ser1690=) c.4978A= (p.Ser1660=) c.5103A= n.3266A= c.5176A= (p.Ser1726=) n.3997A= n.2434A= n.2405A= n.2295A= c.4837A= (p.Ser1613=) c.*4349A= (n.*4349A=) c.4873A= (p.Ser1625=) n.2905A= c.1364A= n.2297A= c.5236A= (p.Ser1746=) c.5233A= (p.Ser1745=) c.5125A= (p.Ser1709=) c.5104A= (p.Ser1702=) c.4450A= (p.Ser1484=) c.5398A= (p.Ser1800=) c.5146A= (p.Ser1716=) c.3892A= (p.Ser1298=) | |
16 | g.2088248A>C | CA394314102 | TSC2 | c.*3531A>C (n.*3531A>C) c.5029A>C (p.Ser1677Arg) c.5179A>C (p.Ser1727Arg) c.*5695A>C (n.*5695A>C) c.*7931A>C (n.*7931A>C) c.5182A>C (p.Ser1728Arg) c.5113A>C (p.Ser1705Arg) c.4981A>C (p.Ser1661Arg) c.5014A>C (p.Ser1672Arg) c.1405A>C n.3064A>C c.3836A>C c.5041A>C (p.Ser1681Arg) n.779A>C c.4984A>C (p.Ser1662Arg) c.5050A>C (p.Ser1684Arg) c.4975A>C (p.Ser1659Arg) n.2830A>C c.5107A>C (p.Ser1703Arg) c.5053A>C (p.Ser1685Arg) c.5068A>C (p.Ser1690Arg) c.4978A>C (p.Ser1660Arg) c.5103A>C n.3266A>C c.5176A>C (p.Ser1726Arg) n.3997A>C n.2434A>C n.2405A>C n.2295A>C c.4837A>C (p.Ser1613Arg) c.*4349A>C (n.*4349A>C) c.4873A>C (p.Ser1625Arg) n.2905A>C c.1364A>C n.2297A>C c.5236A>C (p.Ser1746Arg) c.5233A>C (p.Ser1745Arg) c.5125A>C (p.Ser1709Arg) c.5104A>C (p.Ser1702Arg) c.4450A>C (p.Ser1484Arg) c.5398A>C (p.Ser1800Arg) c.5146A>C (p.Ser1716Arg) c.3892A>C (p.Ser1298Arg) | dbSNP |
16 | g.2088248A>G | CA394314103 | TSC2 | c.*3531A>G (n.*3531A>G) c.5029A>G (p.Ser1677Gly) c.5179A>G (p.Ser1727Gly) c.*5695A>G (n.*5695A>G) c.*7931A>G (n.*7931A>G) c.5182A>G (p.Ser1728Gly) c.5113A>G (p.Ser1705Gly) c.4981A>G (p.Ser1661Gly) c.5014A>G (p.Ser1672Gly) c.1405A>G n.3064A>G c.3836A>G c.5041A>G (p.Ser1681Gly) n.779A>G c.4984A>G (p.Ser1662Gly) c.5050A>G (p.Ser1684Gly) c.4975A>G (p.Ser1659Gly) n.2830A>G c.5107A>G (p.Ser1703Gly) c.5053A>G (p.Ser1685Gly) c.5068A>G (p.Ser1690Gly) c.4978A>G (p.Ser1660Gly) c.5103A>G n.3266A>G c.5176A>G (p.Ser1726Gly) n.3997A>G n.2434A>G n.2405A>G n.2295A>G c.4837A>G (p.Ser1613Gly) c.*4349A>G (n.*4349A>G) c.4873A>G (p.Ser1625Gly) n.2905A>G c.1364A>G n.2297A>G c.5236A>G (p.Ser1746Gly) c.5233A>G (p.Ser1745Gly) c.5125A>G (p.Ser1709Gly) c.5104A>G (p.Ser1702Gly) c.4450A>G (p.Ser1484Gly) c.5398A>G (p.Ser1800Gly) c.5146A>G (p.Ser1716Gly) c.3892A>G (p.Ser1298Gly) | dbSNP |
16 | g.2088248A>T | CA394314105 | TSC2 | c.*3531A>T (n.*3531A>T) c.5029A>T (p.Ser1677Cys) c.5179A>T (p.Ser1727Cys) c.*5695A>T (n.*5695A>T) c.*7931A>T (n.*7931A>T) c.5182A>T (p.Ser1728Cys) c.5113A>T (p.Ser1705Cys) c.4981A>T (p.Ser1661Cys) c.5014A>T (p.Ser1672Cys) c.1405A>T n.3064A>T c.3836A>T c.5041A>T (p.Ser1681Cys) n.779A>T c.4984A>T (p.Ser1662Cys) c.5050A>T (p.Ser1684Cys) c.4975A>T (p.Ser1659Cys) n.2830A>T c.5107A>T (p.Ser1703Cys) c.5053A>T (p.Ser1685Cys) c.5068A>T (p.Ser1690Cys) c.4978A>T (p.Ser1660Cys) c.5103A>T n.3266A>T c.5176A>T (p.Ser1726Cys) n.3997A>T n.2434A>T n.2405A>T n.2295A>T c.4837A>T (p.Ser1613Cys) c.*4349A>T (n.*4349A>T) c.4873A>T (p.Ser1625Cys) n.2905A>T c.1364A>T n.2297A>T c.5236A>T (p.Ser1746Cys) c.5233A>T (p.Ser1745Cys) c.5125A>T (p.Ser1709Cys) c.5104A>T (p.Ser1702Cys) c.4450A>T (p.Ser1484Cys) c.5398A>T (p.Ser1800Cys) c.5146A>T (p.Ser1716Cys) c.3892A>T (p.Ser1298Cys) | dbSNP |
16 | g.2088248_2088249insC | CA620705066 | TSC2 | c.*3531_*3532insC (n.*3531_*3532insC) c.5029_5030insC (p.Ser1677ThrfsTer?) c.5179_5180insC (p.Ser1727ThrfsTer?) c.*5695_*5696insC (n.*5695_*5696insC) c.*7931_*7932insC (n.*7931_*7932insC) c.5182_5183insC (p.Ser1728ThrfsTer?) c.5113_5114insC (p.Ser1705ThrfsTer?) c.4981_4982insC (p.Ser1661ThrfsTer?) c.5014_5015insC (p.Ser1672ThrfsTer?) c.1405_1406insC n.3064_3065insC c.3836_3837insC c.5041_5042insC (p.Ser1681ThrfsTer?) n.779_780insC c.4984_4985insC (p.Ser1662ThrfsTer?) c.5050_5051insC (p.Ser1684ThrfsTer?) c.4975_4976insC (p.Ser1659ThrfsTer?) n.2830_2831insC c.5107_5108insC (p.Ser1703ThrfsTer?) c.5053_5054insC (p.Ser1685ThrfsTer?) c.5068_5069insC (p.Ser1690ThrfsTer?) c.4978_4979insC (p.Ser1660ThrfsTer?) c.5103_5104insC n.3266_3267insC c.5176_5177insC (p.Ser1726ThrfsTer?) n.3997_3998insC n.2434_2435insC n.2405_2406insC n.2295_2296insC c.4837_4838insC (p.Ser1613ThrfsTer?) c.*4349_*4350insC (n.*4349_*4350insC) c.4873_4874insC (p.Ser1625ThrfsTer?) n.2905_2906insC c.1364_1365insC n.2297_2298insC c.5236_5237insC (p.Ser1746ThrfsTer?) c.5233_5234insC (p.Ser1745ThrfsTer?) c.5125_5126insC (p.Ser1709ThrfsTer?) c.5104_5105insC (p.Ser1702ThrfsTer?) c.4450_4451insC (p.Ser1484ThrfsTer?) c.5398_5399insC (p.Ser1800ThrfsTer?) c.5146_5147insC (p.Ser1716ThrfsTer?) c.3892_3893insC (p.Ser1298ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088249G>A | CA394314108 | TSC2 | c.*3532G>A (n.*3532G>A) c.5030G>A (p.Ser1677Asn) c.5180G>A (p.Ser1727Asn) c.*5696G>A (n.*5696G>A) c.*7932G>A (n.*7932G>A) c.5183G>A (p.Ser1728Asn) c.5114G>A (p.Ser1705Asn) c.4982G>A (p.Ser1661Asn) c.5015G>A (p.Ser1672Asn) c.1406G>A n.3065G>A c.3837G>A c.5042G>A (p.Ser1681Asn) n.780G>A c.4985G>A (p.Ser1662Asn) c.5051G>A (p.Ser1684Asn) c.4976G>A (p.Ser1659Asn) n.2831G>A c.5108G>A (p.Ser1703Asn) c.5054G>A (p.Ser1685Asn) c.5069G>A (p.Ser1690Asn) c.4979G>A (p.Ser1660Asn) c.5104G>A n.3267G>A c.5177G>A (p.Ser1726Asn) n.3998G>A n.2435G>A n.2406G>A n.2296G>A c.4838G>A (p.Ser1613Asn) c.*4350G>A (n.*4350G>A) c.4874G>A (p.Ser1625Asn) n.2906G>A c.1365G>A n.2298G>A c.5237G>A (p.Ser1746Asn) c.5234G>A (p.Ser1745Asn) c.5126G>A (p.Ser1709Asn) c.5105G>A (p.Ser1702Asn) c.4451G>A (p.Ser1484Asn) c.5399G>A (p.Ser1800Asn) c.5147G>A (p.Ser1716Asn) c.3893G>A (p.Ser1298Asn) | ClinVar dbSNP |
16 | g.2088249G>C | CA394314109 | TSC2 | c.*3532G>C (n.*3532G>C) c.5030G>C (p.Ser1677Thr) c.5180G>C (p.Ser1727Thr) c.*5696G>C (n.*5696G>C) c.*7932G>C (n.*7932G>C) c.5183G>C (p.Ser1728Thr) c.5114G>C (p.Ser1705Thr) c.4982G>C (p.Ser1661Thr) c.5015G>C (p.Ser1672Thr) c.1406G>C n.3065G>C c.3837G>C c.5042G>C (p.Ser1681Thr) n.780G>C c.4985G>C (p.Ser1662Thr) c.5051G>C (p.Ser1684Thr) c.4976G>C (p.Ser1659Thr) n.2831G>C c.5108G>C (p.Ser1703Thr) c.5054G>C (p.Ser1685Thr) c.5069G>C (p.Ser1690Thr) c.4979G>C (p.Ser1660Thr) c.5104G>C n.3267G>C c.5177G>C (p.Ser1726Thr) n.3998G>C n.2435G>C n.2406G>C n.2296G>C c.4838G>C (p.Ser1613Thr) c.*4350G>C (n.*4350G>C) c.4874G>C (p.Ser1625Thr) n.2906G>C c.1365G>C n.2298G>C c.5237G>C (p.Ser1746Thr) c.5234G>C (p.Ser1745Thr) c.5126G>C (p.Ser1709Thr) c.5105G>C (p.Ser1702Thr) c.4451G>C (p.Ser1484Thr) c.5399G>C (p.Ser1800Thr) c.5147G>C (p.Ser1716Thr) c.3893G>C (p.Ser1298Thr) | dbSNP |
16 | g.2088249G= | CA2202031725 | TSC2 | c.*3532G= (n.*3532G=) c.5030G= (p.Ser1677=) c.5180G= (p.Ser1727=) c.*5696G= (n.*5696G=) c.*7932G= (n.*7932G=) c.5183G= (p.Ser1728=) c.5114G= (p.Ser1705=) c.4982G= (p.Ser1661=) c.5015G= (p.Ser1672=) c.1406G= n.3065G= c.3837G= c.5042G= (p.Ser1681=) n.780G= c.4985G= (p.Ser1662=) c.5051G= (p.Ser1684=) c.4976G= (p.Ser1659=) n.2831G= c.5108G= (p.Ser1703=) c.5054G= (p.Ser1685=) c.5069G= (p.Ser1690=) c.4979G= (p.Ser1660=) c.5104G= n.3267G= c.5177G= (p.Ser1726=) n.3998G= n.2435G= n.2406G= n.2296G= c.4838G= (p.Ser1613=) c.*4350G= (n.*4350G=) c.4874G= (p.Ser1625=) n.2906G= c.1365G= n.2298G= c.5237G= (p.Ser1746=) c.5234G= (p.Ser1745=) c.5126G= (p.Ser1709=) c.5105G= (p.Ser1702=) c.4451G= (p.Ser1484=) c.5399G= (p.Ser1800=) c.5147G= (p.Ser1716=) c.3893G= (p.Ser1298=) | |
16 | g.2088249G>T | CA394314110 | TSC2 | c.*3532G>T (n.*3532G>T) c.5030G>T (p.Ser1677Ile) c.5180G>T (p.Ser1727Ile) c.*5696G>T (n.*5696G>T) c.*7932G>T (n.*7932G>T) c.5183G>T (p.Ser1728Ile) c.5114G>T (p.Ser1705Ile) c.4982G>T (p.Ser1661Ile) c.5015G>T (p.Ser1672Ile) c.1406G>T n.3065G>T c.3837G>T c.5042G>T (p.Ser1681Ile) n.780G>T c.4985G>T (p.Ser1662Ile) c.5051G>T (p.Ser1684Ile) c.4976G>T (p.Ser1659Ile) n.2831G>T c.5108G>T (p.Ser1703Ile) c.5054G>T (p.Ser1685Ile) c.5069G>T (p.Ser1690Ile) c.4979G>T (p.Ser1660Ile) c.5104G>T n.3267G>T c.5177G>T (p.Ser1726Ile) n.3998G>T n.2435G>T n.2406G>T n.2296G>T c.4838G>T (p.Ser1613Ile) c.*4350G>T (n.*4350G>T) c.4874G>T (p.Ser1625Ile) n.2906G>T c.1365G>T n.2298G>T c.5237G>T (p.Ser1746Ile) c.5234G>T (p.Ser1745Ile) c.5126G>T (p.Ser1709Ile) c.5105G>T (p.Ser1702Ile) c.4451G>T (p.Ser1484Ile) c.5399G>T (p.Ser1800Ile) c.5147G>T (p.Ser1716Ile) c.3893G>T (p.Ser1298Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.2088249_2088250del | CA973770587 | TSC2 | c.*3532_*3533del (n.*3532_*3533del) c.5030_5031del (p.Ser1677ThrfsTer?) c.5180_5181del (p.Ser1727ThrfsTer?) c.*5696_*5697del (n.*5696_*5697del) c.*7932_*7933del (n.*7932_*7933del) c.5183_5184del (p.Ser1728ThrfsTer?) c.5114_5115del (p.Ser1705ThrfsTer?) c.4982_4983del (p.Ser1661ThrfsTer?) c.5015_5016del (p.Ser1672ThrfsTer?) c.1406_1407del n.3065_3066del c.3837_3838del c.5042_5043del (p.Ser1681ThrfsTer?) n.780_781del c.4985_4986del (p.Ser1662ThrfsTer?) c.5051_5052del (p.Ser1684ThrfsTer?) c.4976_4977del (p.Ser1659ThrfsTer?) n.2831_2832del c.5108_5109del (p.Ser1703ThrfsTer?) c.5054_5055del (p.Ser1685ThrfsTer?) c.5069_5070del (p.Ser1690ThrfsTer?) c.4979_4980del (p.Ser1660ThrfsTer?) c.5104_5105del n.3267_3268del c.5177_5178del (p.Ser1726ThrfsTer?) n.3998_3999del n.2435_2436del n.2406_2407del n.2296_2297del c.4838_4839del (p.Ser1613ThrfsTer?) c.*4350_*4351del (n.*4350_*4351del) c.4874_4875del (p.Ser1625ThrfsTer?) n.2906_2907del c.1365_1366del n.2298_2299del c.5237_5238del (p.Ser1746ThrfsTer?) c.5234_5235del (p.Ser1745ThrfsTer?) c.5126_5127del (p.Ser1709ThrfsTer?) c.5105_5106del (p.Ser1702ThrfsTer?) c.4451_4452del (p.Ser1484ThrfsTer?) c.5399_5400del (p.Ser1800ThrfsTer?) c.5147_5148del (p.Ser1716ThrfsTer?) c.3893_3894del (p.Ser1298ThrfsTer?) | gnomAD v3 gnomAD v4 |
16 | g.2088250C>A | CA394314116 | TSC2 | c.*3533C>A (n.*3533C>A) c.5031C>A (p.Ser1677Arg) c.5181C>A (p.Ser1727Arg) c.*5697C>A (n.*5697C>A) c.*7933C>A (n.*7933C>A) c.5184C>A (p.Ser1728Arg) c.5115C>A (p.Ser1705Arg) c.4983C>A (p.Ser1661Arg) c.5016C>A (p.Ser1672Arg) c.1407C>A n.3066C>A c.3838C>A c.5043C>A (p.Ser1681Arg) n.781C>A c.4986C>A (p.Ser1662Arg) c.5052C>A (p.Ser1684Arg) c.4977C>A (p.Ser1659Arg) n.2832C>A c.5109C>A (p.Ser1703Arg) c.5055C>A (p.Ser1685Arg) c.5070C>A (p.Ser1690Arg) c.4980C>A (p.Ser1660Arg) c.5105C>A n.3268C>A c.5178C>A (p.Ser1726Arg) n.3999C>A n.2436C>A n.2407C>A n.2297C>A c.4839C>A (p.Ser1613Arg) c.*4351C>A (n.*4351C>A) c.4875C>A (p.Ser1625Arg) n.2907C>A c.1366C>A n.2299C>A c.5238C>A (p.Ser1746Arg) c.5235C>A (p.Ser1745Arg) c.5127C>A (p.Ser1709Arg) c.5106C>A (p.Ser1702Arg) c.4452C>A (p.Ser1484Arg) c.5400C>A (p.Ser1800Arg) c.5148C>A (p.Ser1716Arg) c.3894C>A (p.Ser1298Arg) | dbSNP |
16 | g.2088250C= | CA2202031736 | TSC2 | c.*3533C= (n.*3533C=) c.5031C= (p.Ser1677=) c.5181C= (p.Ser1727=) c.*5697C= (n.*5697C=) c.*7933C= (n.*7933C=) c.5184C= (p.Ser1728=) c.5115C= (p.Ser1705=) c.4983C= (p.Ser1661=) c.5016C= (p.Ser1672=) c.1407C= n.3066C= c.3838C= c.5043C= (p.Ser1681=) n.781C= c.4986C= (p.Ser1662=) c.5052C= (p.Ser1684=) c.4977C= (p.Ser1659=) n.2832C= c.5109C= (p.Ser1703=) c.5055C= (p.Ser1685=) c.5070C= (p.Ser1690=) c.4980C= (p.Ser1660=) c.5105C= n.3268C= c.5178C= (p.Ser1726=) n.3999C= n.2436C= n.2407C= n.2297C= c.4839C= (p.Ser1613=) c.*4351C= (n.*4351C=) c.4875C= (p.Ser1625=) n.2907C= c.1366C= n.2299C= c.5238C= (p.Ser1746=) c.5235C= (p.Ser1745=) c.5127C= (p.Ser1709=) c.5106C= (p.Ser1702=) c.4452C= (p.Ser1484=) c.5400C= (p.Ser1800=) c.5148C= (p.Ser1716=) c.3894C= (p.Ser1298=) | |
16 | g.2088250C>G | CA394314115 | TSC2 | c.*3533C>G (n.*3533C>G) c.5031C>G (p.Ser1677Arg) c.5181C>G (p.Ser1727Arg) c.*5697C>G (n.*5697C>G) c.*7933C>G (n.*7933C>G) c.5184C>G (p.Ser1728Arg) c.5115C>G (p.Ser1705Arg) c.4983C>G (p.Ser1661Arg) c.5016C>G (p.Ser1672Arg) c.1407C>G n.3066C>G c.3838C>G c.5043C>G (p.Ser1681Arg) n.781C>G c.4986C>G (p.Ser1662Arg) c.5052C>G (p.Ser1684Arg) c.4977C>G (p.Ser1659Arg) n.2832C>G c.5109C>G (p.Ser1703Arg) c.5055C>G (p.Ser1685Arg) c.5070C>G (p.Ser1690Arg) c.4980C>G (p.Ser1660Arg) c.5105C>G n.3268C>G c.5178C>G (p.Ser1726Arg) n.3999C>G n.2436C>G n.2407C>G n.2297C>G c.4839C>G (p.Ser1613Arg) c.*4351C>G (n.*4351C>G) c.4875C>G (p.Ser1625Arg) n.2907C>G c.1366C>G n.2299C>G c.5238C>G (p.Ser1746Arg) c.5235C>G (p.Ser1745Arg) c.5127C>G (p.Ser1709Arg) c.5106C>G (p.Ser1702Arg) c.4452C>G (p.Ser1484Arg) c.5400C>G (p.Ser1800Arg) c.5148C>G (p.Ser1716Arg) c.3894C>G (p.Ser1298Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088250C>T | CA022090 | TSC2 | c.*3533C>T (n.*3533C>T) c.5031C>T (p.Ser1677=) c.5181C>T (p.Ser1727=) c.*5697C>T (n.*5697C>T) c.*7933C>T (n.*7933C>T) c.5184C>T (p.Ser1728=) c.5115C>T (p.Ser1705=) c.4983C>T (p.Ser1661=) c.5016C>T (p.Ser1672=) c.1407C>T n.3066C>T c.3838C>T c.5043C>T (p.Ser1681=) n.781C>T c.4986C>T (p.Ser1662=) c.5052C>T (p.Ser1684=) c.4977C>T (p.Ser1659=) n.2832C>T c.5109C>T (p.Ser1703=) c.5055C>T (p.Ser1685=) c.5070C>T (p.Ser1690=) c.4980C>T (p.Ser1660=) c.5105C>T n.3268C>T c.5178C>T (p.Ser1726=) n.3999C>T n.2436C>T n.2407C>T n.2297C>T c.4839C>T (p.Ser1613=) c.*4351C>T (n.*4351C>T) c.4875C>T (p.Ser1625=) n.2907C>T c.1366C>T n.2299C>T c.5238C>T (p.Ser1746=) c.5235C>T (p.Ser1745=) c.5127C>T (p.Ser1709=) c.5106C>T (p.Ser1702=) c.4452C>T (p.Ser1484=) c.5400C>T (p.Ser1800=) c.5148C>T (p.Ser1716=) c.3894C>T (p.Ser1298=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088250_2088256del | CA2805573900 | TSC2 | c.*3533_*3539del (n.*3533_*3539del) c.5031_5037del (p.Ser1677ArgfsTer?) c.5181_5187del (p.Ser1727ArgfsTer?) c.*5697_*5703del (n.*5697_*5703del) c.*7933_*7939del (n.*7933_*7939del) c.5184_5190del (p.Ser1728ArgfsTer?) c.5115_5121del (p.Ser1705ArgfsTer?) c.4983_4989del (p.Ser1661ArgfsTer?) c.5016_5022del (p.Ser1672ArgfsTer?) c.1407_1413del n.3066_3072del c.3838_3844del c.5043_5049del (p.Ser1681ArgfsTer?) n.781_787del c.4986_4992del (p.Ser1662ArgfsTer?) c.5052_5058del (p.Ser1684ArgfsTer?) c.4977_4983del (p.Ser1659ArgfsTer?) n.2832_2838del c.5109_5115del (p.Ser1703ArgfsTer?) c.5055_5061del (p.Ser1685ArgfsTer?) c.5070_5076del (p.Ser1690ArgfsTer?) c.4980_4986del (p.Ser1660ArgfsTer?) c.5105_5111del n.3268_3274del c.5178_5184del (p.Ser1726ArgfsTer?) n.3999_4005del n.2436_2442del n.2407_2413del n.2297_2303del c.4839_4845del (p.Ser1613ArgfsTer?) c.*4351_*4357del (n.*4351_*4357del) c.4875_4881del (p.Ser1625ArgfsTer?) n.2907_2913del c.1366_1372del n.2299_2305del c.5238_5244del (p.Ser1746ArgfsTer?) c.5235_5241del (p.Ser1745ArgfsTer?) c.5127_5133del (p.Ser1709ArgfsTer?) c.5106_5112del (p.Ser1702ArgfsTer?) c.4452_4458del (p.Ser1484ArgfsTer?) c.5400_5406del (p.Ser1800ArgfsTer?) c.5148_5154del (p.Ser1716ArgfsTer?) c.3894_3900del (p.Ser1298ArgfsTer?) | |
16 | g.2088251C>A | CA394314117 | TSC2 | c.*3534C>A (n.*3534C>A) c.5032C>A (p.Arg1678Ser) c.5182C>A (p.Arg1728Ser) c.*5698C>A (n.*5698C>A) c.*7934C>A (n.*7934C>A) c.5185C>A (p.Arg1729Ser) c.5116C>A (p.Arg1706Ser) c.4984C>A (p.Arg1662Ser) c.5017C>A (p.Arg1673Ser) c.1408C>A n.3067C>A c.3839C>A c.5044C>A (p.Arg1682Ser) n.782C>A c.4987C>A (p.Arg1663Ser) c.5053C>A (p.Arg1685Ser) c.4978C>A (p.Arg1660Ser) n.2833C>A c.5110C>A (p.Arg1704Ser) c.5056C>A (p.Arg1686Ser) c.5071C>A (p.Arg1691Ser) c.4981C>A (p.Arg1661Ser) c.5106C>A n.3269C>A c.5179C>A (p.Arg1727Ser) n.4000C>A n.2437C>A n.2408C>A n.2298C>A c.4840C>A (p.Arg1614Ser) c.*4352C>A (n.*4352C>A) c.4876C>A (p.Arg1626Ser) n.2908C>A c.1367C>A n.2300C>A c.5239C>A (p.Arg1747Ser) c.5236C>A (p.Arg1746Ser) c.5128C>A (p.Arg1710Ser) c.5107C>A (p.Arg1703Ser) c.4453C>A (p.Arg1485Ser) c.5401C>A (p.Arg1801Ser) c.5149C>A (p.Arg1717Ser) c.3895C>A (p.Arg1299Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088251C= | CA2202031744 | TSC2 | c.*3534C= (n.*3534C=) c.5032C= (p.Arg1678=) c.5182C= (p.Arg1728=) c.*5698C= (n.*5698C=) c.*7934C= (n.*7934C=) c.5185C= (p.Arg1729=) c.5116C= (p.Arg1706=) c.4984C= (p.Arg1662=) c.5017C= (p.Arg1673=) c.1408C= n.3067C= c.3839C= c.5044C= (p.Arg1682=) n.782C= c.4987C= (p.Arg1663=) c.5053C= (p.Arg1685=) c.4978C= (p.Arg1660=) n.2833C= c.5110C= (p.Arg1704=) c.5056C= (p.Arg1686=) c.5071C= (p.Arg1691=) c.4981C= (p.Arg1661=) c.5106C= n.3269C= c.5179C= (p.Arg1727=) n.4000C= n.2437C= n.2408C= n.2298C= c.4840C= (p.Arg1614=) c.*4352C= (n.*4352C=) c.4876C= (p.Arg1626=) n.2908C= c.1367C= n.2300C= c.5239C= (p.Arg1747=) c.5236C= (p.Arg1746=) c.5128C= (p.Arg1710=) c.5107C= (p.Arg1703=) c.4453C= (p.Arg1485=) c.5401C= (p.Arg1801=) c.5149C= (p.Arg1717=) c.3895C= (p.Arg1299=) | |
16 | g.2088251C>G | CA394314122 | TSC2 | c.*3534C>G (n.*3534C>G) c.5032C>G (p.Arg1678Gly) c.5182C>G (p.Arg1728Gly) c.*5698C>G (n.*5698C>G) c.*7934C>G (n.*7934C>G) c.5185C>G (p.Arg1729Gly) c.5116C>G (p.Arg1706Gly) c.4984C>G (p.Arg1662Gly) c.5017C>G (p.Arg1673Gly) c.1408C>G n.3067C>G c.3839C>G c.5044C>G (p.Arg1682Gly) n.782C>G c.4987C>G (p.Arg1663Gly) c.5053C>G (p.Arg1685Gly) c.4978C>G (p.Arg1660Gly) n.2833C>G c.5110C>G (p.Arg1704Gly) c.5056C>G (p.Arg1686Gly) c.5071C>G (p.Arg1691Gly) c.4981C>G (p.Arg1661Gly) c.5106C>G n.3269C>G c.5179C>G (p.Arg1727Gly) n.4000C>G n.2437C>G n.2408C>G n.2298C>G c.4840C>G (p.Arg1614Gly) c.*4352C>G (n.*4352C>G) c.4876C>G (p.Arg1626Gly) n.2908C>G c.1367C>G n.2300C>G c.5239C>G (p.Arg1747Gly) c.5236C>G (p.Arg1746Gly) c.5128C>G (p.Arg1710Gly) c.5107C>G (p.Arg1703Gly) c.4453C>G (p.Arg1485Gly) c.5401C>G (p.Arg1801Gly) c.5149C>G (p.Arg1717Gly) c.3895C>G (p.Arg1299Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2088251C>T | CA022096 | TSC2 | c.*3534C>T (n.*3534C>T) c.5032C>T (p.Arg1678Cys) c.5182C>T (p.Arg1728Cys) c.*5698C>T (n.*5698C>T) c.*7934C>T (n.*7934C>T) c.5185C>T (p.Arg1729Cys) c.5116C>T (p.Arg1706Cys) c.4984C>T (p.Arg1662Cys) c.5017C>T (p.Arg1673Cys) c.1408C>T n.3067C>T c.3839C>T c.5044C>T (p.Arg1682Cys) n.782C>T c.4987C>T (p.Arg1663Cys) c.5053C>T (p.Arg1685Cys) c.4978C>T (p.Arg1660Cys) n.2833C>T c.5110C>T (p.Arg1704Cys) c.5056C>T (p.Arg1686Cys) c.5071C>T (p.Arg1691Cys) c.4981C>T (p.Arg1661Cys) c.5106C>T n.3269C>T c.5179C>T (p.Arg1727Cys) n.4000C>T n.2437C>T n.2408C>T n.2298C>T c.4840C>T (p.Arg1614Cys) c.*4352C>T (n.*4352C>T) c.4876C>T (p.Arg1626Cys) n.2908C>T c.1367C>T n.2300C>T c.5239C>T (p.Arg1747Cys) c.5236C>T (p.Arg1746Cys) c.5128C>T (p.Arg1710Cys) c.5107C>T (p.Arg1703Cys) c.4453C>T (p.Arg1485Cys) c.5401C>T (p.Arg1801Cys) c.5149C>T (p.Arg1717Cys) c.3895C>T (p.Arg1299Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088252G>A | CA054348 | TSC2 | c.*3535G>A (n.*3535G>A) c.5033G>A (p.Arg1678His) c.5183G>A (p.Arg1728His) c.*5699G>A (n.*5699G>A) c.*7935G>A (n.*7935G>A) c.5186G>A (p.Arg1729His) c.5117G>A (p.Arg1706His) c.4985G>A (p.Arg1662His) c.5018G>A (p.Arg1673His) c.1409G>A n.3068G>A c.3840G>A c.5045G>A (p.Arg1682His) n.783G>A c.4988G>A (p.Arg1663His) c.5054G>A (p.Arg1685His) c.4979G>A (p.Arg1660His) n.2834G>A c.5111G>A (p.Arg1704His) c.5057G>A (p.Arg1686His) c.5072G>A (p.Arg1691His) c.4982G>A (p.Arg1661His) c.5107G>A n.3270G>A c.5180G>A (p.Arg1727His) n.4001G>A n.2438G>A n.2409G>A n.2299G>A c.4841G>A (p.Arg1614His) c.*4353G>A (n.*4353G>A) c.4877G>A (p.Arg1626His) n.2909G>A c.1368G>A n.2301G>A c.5240G>A (p.Arg1747His) c.5237G>A (p.Arg1746His) c.5129G>A (p.Arg1710His) c.5108G>A (p.Arg1703His) c.4454G>A (p.Arg1485His) c.5402G>A (p.Arg1801His) c.5150G>A (p.Arg1717His) c.3896G>A (p.Arg1299His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088252G>C | CA276759337 | TSC2 | c.*3535G>C (n.*3535G>C) c.5033G>C (p.Arg1678Pro) c.5183G>C (p.Arg1728Pro) c.*5699G>C (n.*5699G>C) c.*7935G>C (n.*7935G>C) c.5186G>C (p.Arg1729Pro) c.5117G>C (p.Arg1706Pro) c.4985G>C (p.Arg1662Pro) c.5018G>C (p.Arg1673Pro) c.1409G>C n.3068G>C c.3840G>C c.5045G>C (p.Arg1682Pro) n.783G>C c.4988G>C (p.Arg1663Pro) c.5054G>C (p.Arg1685Pro) c.4979G>C (p.Arg1660Pro) n.2834G>C c.5111G>C (p.Arg1704Pro) c.5057G>C (p.Arg1686Pro) c.5072G>C (p.Arg1691Pro) c.4982G>C (p.Arg1661Pro) c.5107G>C n.3270G>C c.5180G>C (p.Arg1727Pro) n.4001G>C n.2438G>C n.2409G>C n.2299G>C c.4841G>C (p.Arg1614Pro) c.*4353G>C (n.*4353G>C) c.4877G>C (p.Arg1626Pro) n.2909G>C c.1368G>C n.2301G>C c.5240G>C (p.Arg1747Pro) c.5237G>C (p.Arg1746Pro) c.5129G>C (p.Arg1710Pro) c.5108G>C (p.Arg1703Pro) c.4454G>C (p.Arg1485Pro) c.5402G>C (p.Arg1801Pro) c.5150G>C (p.Arg1717Pro) c.3896G>C (p.Arg1299Pro) | dbSNP gnomAD v4 |
16 | g.2088252G= | CA2202031767 | TSC2 | c.*3535G= (n.*3535G=) c.5033G= (p.Arg1678=) c.5183G= (p.Arg1728=) c.*5699G= (n.*5699G=) c.*7935G= (n.*7935G=) c.5186G= (p.Arg1729=) c.5117G= (p.Arg1706=) c.4985G= (p.Arg1662=) c.5018G= (p.Arg1673=) c.1409G= n.3068G= c.3840G= c.5045G= (p.Arg1682=) n.783G= c.4988G= (p.Arg1663=) c.5054G= (p.Arg1685=) c.4979G= (p.Arg1660=) n.2834G= c.5111G= (p.Arg1704=) c.5057G= (p.Arg1686=) c.5072G= (p.Arg1691=) c.4982G= (p.Arg1661=) c.5107G= n.3270G= c.5180G= (p.Arg1727=) n.4001G= n.2438G= n.2409G= n.2299G= c.4841G= (p.Arg1614=) c.*4353G= (n.*4353G=) c.4877G= (p.Arg1626=) n.2909G= c.1368G= n.2301G= c.5240G= (p.Arg1747=) c.5237G= (p.Arg1746=) c.5129G= (p.Arg1710=) c.5108G= (p.Arg1703=) c.4454G= (p.Arg1485=) c.5402G= (p.Arg1801=) c.5150G= (p.Arg1717=) c.3896G= (p.Arg1299=) | |
16 | g.2088252G>T | CA394314128 | TSC2 | c.*3535G>T (n.*3535G>T) c.5033G>T (p.Arg1678Leu) c.5183G>T (p.Arg1728Leu) c.*5699G>T (n.*5699G>T) c.*7935G>T (n.*7935G>T) c.5186G>T (p.Arg1729Leu) c.5117G>T (p.Arg1706Leu) c.4985G>T (p.Arg1662Leu) c.5018G>T (p.Arg1673Leu) c.1409G>T n.3068G>T c.3840G>T c.5045G>T (p.Arg1682Leu) n.783G>T c.4988G>T (p.Arg1663Leu) c.5054G>T (p.Arg1685Leu) c.4979G>T (p.Arg1660Leu) n.2834G>T c.5111G>T (p.Arg1704Leu) c.5057G>T (p.Arg1686Leu) c.5072G>T (p.Arg1691Leu) c.4982G>T (p.Arg1661Leu) c.5107G>T n.3270G>T c.5180G>T (p.Arg1727Leu) n.4001G>T n.2438G>T n.2409G>T n.2299G>T c.4841G>T (p.Arg1614Leu) c.*4353G>T (n.*4353G>T) c.4877G>T (p.Arg1626Leu) n.2909G>T c.1368G>T n.2301G>T c.5240G>T (p.Arg1747Leu) c.5237G>T (p.Arg1746Leu) c.5129G>T (p.Arg1710Leu) c.5108G>T (p.Arg1703Leu) c.4454G>T (p.Arg1485Leu) c.5402G>T (p.Arg1801Leu) c.5150G>T (p.Arg1717Leu) c.3896G>T (p.Arg1299Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088252_2088256delinsGCTCC | CA2202031774 | TSC2 | c.*3535_*3539delinsGCTCC (n.*3535_*3539delinsGCTCC) c.5033_5037delinsGCTCC (p.Arg1678=) c.5183_5187delinsGCTCC (p.Arg1728=) c.*5699_*5703delinsGCTCC (n.*5699_*5703delinsGCTCC) c.*7935_*7939delinsGCTCC (n.*7935_*7939delinsGCTCC) c.5186_5190delinsGCTCC (p.Arg1729=) c.5117_5121delinsGCTCC (p.Arg1706=) c.4985_4989delinsGCTCC (p.Arg1662=) c.5018_5022delinsGCTCC (p.Arg1673=) c.1409_1413delinsGCTCC n.3068_3072delinsGCTCC c.3840_3844delinsGCTCC c.5045_5049delinsGCTCC (p.Arg1682=) n.783_787delinsGCTCC c.4988_4992delinsGCTCC (p.Arg1663=) c.5054_5058delinsGCTCC (p.Arg1685=) c.4979_4983delinsGCTCC (p.Arg1660=) n.2834_2838delinsGCTCC c.5111_5115delinsGCTCC (p.Arg1704=) c.5057_5061delinsGCTCC (p.Arg1686=) c.5072_5076delinsGCTCC (p.Arg1691=) c.4982_4986delinsGCTCC (p.Arg1661=) c.5107_5111delinsGCTCC n.3270_3274delinsGCTCC c.5180_5184delinsGCTCC (p.Arg1727=) n.4001_4005delinsGCTCC n.2438_2442delinsGCTCC n.2409_2413delinsGCTCC n.2299_2303delinsGCTCC c.4841_4845delinsGCTCC (p.Arg1614=) c.*4353_*4357delinsGCTCC (n.*4353_*4357delinsGCTCC) c.4877_4881delinsGCTCC (p.Arg1626=) n.2909_2913delinsGCTCC c.1368_1372delinsGCTCC n.2301_2305delinsGCTCC c.5240_5244delinsGCTCC (p.Arg1747=) c.5237_5241delinsGCTCC (p.Arg1746=) c.5129_5133delinsGCTCC (p.Arg1710=) c.5108_5112delinsGCTCC (p.Arg1703=) c.4454_4458delinsGCTCC (p.Arg1485=) c.5402_5406delinsGCTCC (p.Arg1801=) c.5150_5154delinsGCTCC (p.Arg1717=) c.3896_3900delinsGCTCC (p.Arg1299=) | |
16 | g.2088252_2088259delinsGCTCCAAC | CA2202031769 | TSC2 | c.*3535_*3542delinsGCTCCAAC (n.*3535_*3542delinsGCTCCAAC) c.5033_5040delinsGCTCCAAC (p.Arg1678=) c.5183_5190delinsGCTCCAAC (p.Arg1728=) c.*5699_*5706delinsGCTCCAAC (n.*5699_*5706delinsGCTCCAAC) c.*7935_*7942delinsGCTCCAAC (n.*7935_*7942delinsGCTCCAAC) c.5186_5193delinsGCTCCAAC (p.Arg1729=) c.5117_5124delinsGCTCCAAC (p.Arg1706=) c.4985_4992delinsGCTCCAAC (p.Arg1662=) c.5018_5025delinsGCTCCAAC (p.Arg1673=) c.1409_1416delinsGCTCCAAC n.3068_3075delinsGCTCCAAC c.3840_3847delinsGCTCCAAC c.5045_5052delinsGCTCCAAC (p.Arg1682=) n.783_790delinsGCTCCAAC c.4988_4995delinsGCTCCAAC (p.Arg1663=) c.5054_5061delinsGCTCCAAC (p.Arg1685=) c.4979_4986delinsGCTCCAAC (p.Arg1660=) n.2834_2841delinsGCTCCAAC c.5111_5118delinsGCTCCAAC (p.Arg1704=) c.5057_5064delinsGCTCCAAC (p.Arg1686=) c.5072_5079delinsGCTCCAAC (p.Arg1691=) c.4982_4989delinsGCTCCAAC (p.Arg1661=) c.5107_5114delinsGCTCCAAC n.3270_3277delinsGCTCCAAC c.5180_5187delinsGCTCCAAC (p.Arg1727=) n.4001_4008delinsGCTCCAAC n.2438_2445delinsGCTCCAAC n.2409_2416delinsGCTCCAAC n.2299_2306delinsGCTCCAAC c.4841_4848delinsGCTCCAAC (p.Arg1614=) c.*4353_*4360delinsGCTCCAAC (n.*4353_*4360delinsGCTCCAAC) c.4877_4884delinsGCTCCAAC (p.Arg1626=) n.2909_2916delinsGCTCCAAC c.1368_1375delinsGCTCCAAC n.2301_2308delinsGCTCCAAC c.5240_5247delinsGCTCCAAC (p.Arg1747=) c.5237_5244delinsGCTCCAAC (p.Arg1746=) c.5129_5136delinsGCTCCAAC (p.Arg1710=) c.5108_5115delinsGCTCCAAC (p.Arg1703=) c.4454_4461delinsGCTCCAAC (p.Arg1485=) c.5402_5409delinsGCTCCAAC (p.Arg1801=) c.5150_5157delinsGCTCCAAC (p.Arg1717=) c.3896_3903delinsGCTCCAAC (p.Arg1299=) | |
16 | g.2088253del | CA973770606 | TSC2 | c.*3536del (n.*3536del) c.5034del (p.Ser1679ProfsTer?) c.5184del (p.Ser1729ProfsTer?) c.*5700del (n.*5700del) c.*7936del (n.*7936del) c.5187del (p.Ser1730ProfsTer?) c.5118del (p.Ser1707ProfsTer?) c.4986del (p.Ser1663ProfsTer?) c.5019del (p.Ser1674ProfsTer?) c.1410del n.3069del c.3841del c.5046del (p.Ser1683ProfsTer?) n.784del c.4989del (p.Ser1664ProfsTer?) c.5055del (p.Ser1686ProfsTer?) c.4980del (p.Ser1661ProfsTer?) n.2835del c.5112del (p.Ser1705ProfsTer?) c.5058del (p.Ser1687ProfsTer?) c.5073del (p.Ser1692ProfsTer?) c.4983del (p.Ser1662ProfsTer?) c.5108del n.3271del c.5181del (p.Ser1728ProfsTer?) n.4002del n.2439del n.2410del n.2300del c.4842del (p.Ser1615ProfsTer?) c.*4354del (n.*4354del) c.4878del (p.Ser1627ProfsTer?) n.2910del c.1369del n.2302del c.5241del (p.Ser1748ProfsTer?) c.5238del (p.Ser1747ProfsTer?) c.5130del (p.Ser1711ProfsTer?) c.5109del (p.Ser1704ProfsTer?) c.4455del (p.Ser1486ProfsTer?) c.5403del (p.Ser1802ProfsTer?) c.5151del (p.Ser1718ProfsTer?) c.3897del (p.Ser1300ProfsTer?) | gnomAD v3 gnomAD v4 |
16 | g.2088253C>A | CA493043747 | TSC2 | c.*3536C>A (n.*3536C>A) c.5034C>A (p.Arg1678=) c.5184C>A (p.Arg1728=) c.*5700C>A (n.*5700C>A) c.*7936C>A (n.*7936C>A) c.5187C>A (p.Arg1729=) c.5118C>A (p.Arg1706=) c.4986C>A (p.Arg1662=) c.5019C>A (p.Arg1673=) c.1410C>A n.3069C>A c.3841C>A c.5046C>A (p.Arg1682=) n.784C>A c.4989C>A (p.Arg1663=) c.5055C>A (p.Arg1685=) c.4980C>A (p.Arg1660=) n.2835C>A c.5112C>A (p.Arg1704=) c.5058C>A (p.Arg1686=) c.5073C>A (p.Arg1691=) c.4983C>A (p.Arg1661=) c.5108C>A n.3271C>A c.5181C>A (p.Arg1727=) n.4002C>A n.2439C>A n.2410C>A n.2300C>A c.4842C>A (p.Arg1614=) c.*4354C>A (n.*4354C>A) c.4878C>A (p.Arg1626=) n.2910C>A c.1369C>A n.2302C>A c.5241C>A (p.Arg1747=) c.5238C>A (p.Arg1746=) c.5130C>A (p.Arg1710=) c.5109C>A (p.Arg1703=) c.4455C>A (p.Arg1485=) c.5403C>A (p.Arg1801=) c.5151C>A (p.Arg1717=) c.3897C>A (p.Arg1299=) | |
16 | g.2088253C= | CA2202031784 | TSC2 | c.*3536C= (n.*3536C=) c.5034C= (p.Arg1678=) c.5184C= (p.Arg1728=) c.*5700C= (n.*5700C=) c.*7936C= (n.*7936C=) c.5187C= (p.Arg1729=) c.5118C= (p.Arg1706=) c.4986C= (p.Arg1662=) c.5019C= (p.Arg1673=) c.1410C= n.3069C= c.3841C= c.5046C= (p.Arg1682=) n.784C= c.4989C= (p.Arg1663=) c.5055C= (p.Arg1685=) c.4980C= (p.Arg1660=) n.2835C= c.5112C= (p.Arg1704=) c.5058C= (p.Arg1686=) c.5073C= (p.Arg1691=) c.4983C= (p.Arg1661=) c.5108C= n.3271C= c.5181C= (p.Arg1727=) n.4002C= n.2439C= n.2410C= n.2300C= c.4842C= (p.Arg1614=) c.*4354C= (n.*4354C=) c.4878C= (p.Arg1626=) n.2910C= c.1369C= n.2302C= c.5241C= (p.Arg1747=) c.5238C= (p.Arg1746=) c.5130C= (p.Arg1710=) c.5109C= (p.Arg1703=) c.4455C= (p.Arg1485=) c.5403C= (p.Arg1801=) c.5151C= (p.Arg1717=) c.3897C= (p.Arg1299=) | |
16 | g.2088253C>G | CA493043748 | TSC2 | c.*3536C>G (n.*3536C>G) c.5034C>G (p.Arg1678=) c.5184C>G (p.Arg1728=) c.*5700C>G (n.*5700C>G) c.*7936C>G (n.*7936C>G) c.5187C>G (p.Arg1729=) c.5118C>G (p.Arg1706=) c.4986C>G (p.Arg1662=) c.5019C>G (p.Arg1673=) c.1410C>G n.3069C>G c.3841C>G c.5046C>G (p.Arg1682=) n.784C>G c.4989C>G (p.Arg1663=) c.5055C>G (p.Arg1685=) c.4980C>G (p.Arg1660=) n.2835C>G c.5112C>G (p.Arg1704=) c.5058C>G (p.Arg1686=) c.5073C>G (p.Arg1691=) c.4983C>G (p.Arg1661=) c.5108C>G n.3271C>G c.5181C>G (p.Arg1727=) n.4002C>G n.2439C>G n.2410C>G n.2300C>G c.4842C>G (p.Arg1614=) c.*4354C>G (n.*4354C>G) c.4878C>G (p.Arg1626=) n.2910C>G c.1369C>G n.2302C>G c.5241C>G (p.Arg1747=) c.5238C>G (p.Arg1746=) c.5130C>G (p.Arg1710=) c.5109C>G (p.Arg1703=) c.4455C>G (p.Arg1485=) c.5403C>G (p.Arg1801=) c.5151C>G (p.Arg1717=) c.3897C>G (p.Arg1299=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088253C>T | CA493043749 | TSC2 | c.*3536C>T (n.*3536C>T) c.5034C>T (p.Arg1678=) c.5184C>T (p.Arg1728=) c.*5700C>T (n.*5700C>T) c.*7936C>T (n.*7936C>T) c.5187C>T (p.Arg1729=) c.5118C>T (p.Arg1706=) c.4986C>T (p.Arg1662=) c.5019C>T (p.Arg1673=) c.1410C>T n.3069C>T c.3841C>T c.5046C>T (p.Arg1682=) n.784C>T c.4989C>T (p.Arg1663=) c.5055C>T (p.Arg1685=) c.4980C>T (p.Arg1660=) n.2835C>T c.5112C>T (p.Arg1704=) c.5058C>T (p.Arg1686=) c.5073C>T (p.Arg1691=) c.4983C>T (p.Arg1661=) c.5108C>T n.3271C>T c.5181C>T (p.Arg1727=) n.4002C>T n.2439C>T n.2410C>T n.2300C>T c.4842C>T (p.Arg1614=) c.*4354C>T (n.*4354C>T) c.4878C>T (p.Arg1626=) n.2910C>T c.1369C>T n.2302C>T c.5241C>T (p.Arg1747=) c.5238C>T (p.Arg1746=) c.5130C>T (p.Arg1710=) c.5109C>T (p.Arg1703=) c.4455C>T (p.Arg1485=) c.5403C>T (p.Arg1801=) c.5151C>T (p.Arg1717=) c.3897C>T (p.Arg1299=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088253_2088256del | CA620705067 | TSC2 | c.*3536_*3539del (n.*3536_*3539del) c.5034_5037del (p.Ser1679ThrfsTer?) c.5184_5187del (p.Ser1729ThrfsTer?) c.*5700_*5703del (n.*5700_*5703del) c.*7936_*7939del (n.*7936_*7939del) c.5187_5190del (p.Ser1730ThrfsTer?) c.5118_5121del (p.Ser1707ThrfsTer?) c.4986_4989del (p.Ser1663ThrfsTer?) c.5019_5022del (p.Ser1674ThrfsTer?) c.1410_1413del n.3069_3072del c.3841_3844del c.5046_5049del (p.Ser1683ThrfsTer?) n.784_787del c.4989_4992del (p.Ser1664ThrfsTer?) c.5055_5058del (p.Ser1686ThrfsTer?) c.4980_4983del (p.Ser1661ThrfsTer?) n.2835_2838del c.5112_5115del (p.Ser1705ThrfsTer?) c.5058_5061del (p.Ser1687ThrfsTer?) c.5073_5076del (p.Ser1692ThrfsTer?) c.4983_4986del (p.Ser1662ThrfsTer?) c.5108_5111del n.3271_3274del c.5181_5184del (p.Ser1728ThrfsTer?) n.4002_4005del n.2439_2442del n.2410_2413del n.2300_2303del c.4842_4845del (p.Ser1615ThrfsTer?) c.*4354_*4357del (n.*4354_*4357del) c.4878_4881del (p.Ser1627ThrfsTer?) n.2910_2913del c.1369_1372del n.2302_2305del c.5241_5244del (p.Ser1748ThrfsTer?) c.5238_5241del (p.Ser1747ThrfsTer?) c.5130_5133del (p.Ser1711ThrfsTer?) c.5109_5112del (p.Ser1704ThrfsTer?) c.4455_4458del (p.Ser1486ThrfsTer?) c.5403_5406del (p.Ser1802ThrfsTer?) c.5151_5154del (p.Ser1718ThrfsTer?) c.3897_3900del (p.Ser1300ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088254_2088260del | CA973770608 | TSC2 | c.*3537_*3543del (n.*3537_*3543del) c.5035_5041del (p.Ser1679ProfsTer?) c.5185_5191del (p.Ser1729ProfsTer?) c.*5701_*5707del (n.*5701_*5707del) c.*7937_*7943del (n.*7937_*7943del) c.5188_5194del (p.Ser1730ProfsTer?) c.5119_5125del (p.Ser1707ProfsTer?) c.4987_4993del (p.Ser1663ProfsTer?) c.5020_5026del (p.Ser1674ProfsTer?) c.1411_1417del n.3070_3076del c.3842_3848del c.5047_5053del (p.Ser1683ProfsTer?) n.785_791del c.4990_4996del (p.Ser1664ProfsTer?) c.5056_5062del (p.Ser1686ProfsTer?) c.4981_4987del (p.Ser1661ProfsTer?) n.2836_2842del c.5113_5119del (p.Ser1705ProfsTer?) c.5059_5065del (p.Ser1687ProfsTer?) c.5074_5080del (p.Ser1692ProfsTer?) c.4984_4990del (p.Ser1662ProfsTer?) c.5109_5115del n.3272_3278del c.5182_5188del (p.Ser1728ProfsTer?) n.4003_4009del n.2440_2446del n.2411_2417del n.2301_2307del c.4843_4849del (p.Ser1615ProfsTer?) c.*4355_*4361del (n.*4355_*4361del) c.4879_4885del (p.Ser1627ProfsTer?) n.2911_2917del c.1370_1376del n.2303_2309del c.5242_5248del (p.Ser1748ProfsTer?) c.5239_5245del (p.Ser1747ProfsTer?) c.5131_5137del (p.Ser1711ProfsTer?) c.5110_5116del (p.Ser1704ProfsTer?) c.4456_4462del (p.Ser1486ProfsTer?) c.5404_5410del (p.Ser1802ProfsTer?) c.5152_5158del (p.Ser1718ProfsTer?) c.3898_3904del (p.Ser1300ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088254T>A | CA394314134 | TSC2 | c.*3537T>A (n.*3537T>A) c.5035T>A (p.Ser1679Thr) c.5185T>A (p.Ser1729Thr) c.*5701T>A (n.*5701T>A) c.*7937T>A (n.*7937T>A) c.5188T>A (p.Ser1730Thr) c.5119T>A (p.Ser1707Thr) c.4987T>A (p.Ser1663Thr) c.5020T>A (p.Ser1674Thr) c.1411T>A n.3070T>A c.3842T>A c.5047T>A (p.Ser1683Thr) n.785T>A c.4990T>A (p.Ser1664Thr) c.5056T>A (p.Ser1686Thr) c.4981T>A (p.Ser1661Thr) n.2836T>A c.5113T>A (p.Ser1705Thr) c.5059T>A (p.Ser1687Thr) c.5074T>A (p.Ser1692Thr) c.4984T>A (p.Ser1662Thr) c.5109T>A n.3272T>A c.5182T>A (p.Ser1728Thr) n.4003T>A n.2440T>A n.2411T>A n.2301T>A c.4843T>A (p.Ser1615Thr) c.*4355T>A (n.*4355T>A) c.4879T>A (p.Ser1627Thr) n.2911T>A c.1370T>A n.2303T>A c.5242T>A (p.Ser1748Thr) c.5239T>A (p.Ser1747Thr) c.5131T>A (p.Ser1711Thr) c.5110T>A (p.Ser1704Thr) c.4456T>A (p.Ser1486Thr) c.5404T>A (p.Ser1802Thr) c.5152T>A (p.Ser1718Thr) c.3898T>A (p.Ser1300Thr) | |
16 | g.2088254T>C | CA394314140 | TSC2 | c.*3537T>C (n.*3537T>C) c.5035T>C (p.Ser1679Pro) c.5185T>C (p.Ser1729Pro) c.*5701T>C (n.*5701T>C) c.*7937T>C (n.*7937T>C) c.5188T>C (p.Ser1730Pro) c.5119T>C (p.Ser1707Pro) c.4987T>C (p.Ser1663Pro) c.5020T>C (p.Ser1674Pro) c.1411T>C n.3070T>C c.3842T>C c.5047T>C (p.Ser1683Pro) n.785T>C c.4990T>C (p.Ser1664Pro) c.5056T>C (p.Ser1686Pro) c.4981T>C (p.Ser1661Pro) n.2836T>C c.5113T>C (p.Ser1705Pro) c.5059T>C (p.Ser1687Pro) c.5074T>C (p.Ser1692Pro) c.4984T>C (p.Ser1662Pro) c.5109T>C n.3272T>C c.5182T>C (p.Ser1728Pro) n.4003T>C n.2440T>C n.2411T>C n.2301T>C c.4843T>C (p.Ser1615Pro) c.*4355T>C (n.*4355T>C) c.4879T>C (p.Ser1627Pro) n.2911T>C c.1370T>C n.2303T>C c.5242T>C (p.Ser1748Pro) c.5239T>C (p.Ser1747Pro) c.5131T>C (p.Ser1711Pro) c.5110T>C (p.Ser1704Pro) c.4456T>C (p.Ser1486Pro) c.5404T>C (p.Ser1802Pro) c.5152T>C (p.Ser1718Pro) c.3898T>C (p.Ser1300Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088254T>G | CA394314147 | TSC2 | c.*3537T>G (n.*3537T>G) c.5035T>G (p.Ser1679Ala) c.5185T>G (p.Ser1729Ala) c.*5701T>G (n.*5701T>G) c.*7937T>G (n.*7937T>G) c.5188T>G (p.Ser1730Ala) c.5119T>G (p.Ser1707Ala) c.4987T>G (p.Ser1663Ala) c.5020T>G (p.Ser1674Ala) c.1411T>G n.3070T>G c.3842T>G c.5047T>G (p.Ser1683Ala) n.785T>G c.4990T>G (p.Ser1664Ala) c.5056T>G (p.Ser1686Ala) c.4981T>G (p.Ser1661Ala) n.2836T>G c.5113T>G (p.Ser1705Ala) c.5059T>G (p.Ser1687Ala) c.5074T>G (p.Ser1692Ala) c.4984T>G (p.Ser1662Ala) c.5109T>G n.3272T>G c.5182T>G (p.Ser1728Ala) n.4003T>G n.2440T>G n.2411T>G n.2301T>G c.4843T>G (p.Ser1615Ala) c.*4355T>G (n.*4355T>G) c.4879T>G (p.Ser1627Ala) n.2911T>G c.1370T>G n.2303T>G c.5242T>G (p.Ser1748Ala) c.5239T>G (p.Ser1747Ala) c.5131T>G (p.Ser1711Ala) c.5110T>G (p.Ser1704Ala) c.4456T>G (p.Ser1486Ala) c.5404T>G (p.Ser1802Ala) c.5152T>G (p.Ser1718Ala) c.3898T>G (p.Ser1300Ala) | gnomAD v3 gnomAD v4 |
16 | g.2088255C>A | CA394314148 | TSC2 | c.*3538C>A (n.*3538C>A) c.5036C>A (p.Ser1679Tyr) c.5186C>A (p.Ser1729Tyr) c.*5702C>A (n.*5702C>A) c.*7938C>A (n.*7938C>A) c.5189C>A (p.Ser1730Tyr) c.5120C>A (p.Ser1707Tyr) c.4988C>A (p.Ser1663Tyr) c.5021C>A (p.Ser1674Tyr) c.1412C>A n.3071C>A c.3843C>A c.5048C>A (p.Ser1683Tyr) n.786C>A c.4991C>A (p.Ser1664Tyr) c.5057C>A (p.Ser1686Tyr) c.4982C>A (p.Ser1661Tyr) n.2837C>A c.5114C>A (p.Ser1705Tyr) c.5060C>A (p.Ser1687Tyr) c.5075C>A (p.Ser1692Tyr) c.4985C>A (p.Ser1662Tyr) c.5110C>A n.3273C>A c.5183C>A (p.Ser1728Tyr) n.4004C>A n.2441C>A n.2412C>A n.2302C>A c.4844C>A (p.Ser1615Tyr) c.*4356C>A (n.*4356C>A) c.4880C>A (p.Ser1627Tyr) n.2912C>A c.1371C>A n.2304C>A c.5243C>A (p.Ser1748Tyr) c.5240C>A (p.Ser1747Tyr) c.5132C>A (p.Ser1711Tyr) c.5111C>A (p.Ser1704Tyr) c.4457C>A (p.Ser1486Tyr) c.5405C>A (p.Ser1802Tyr) c.5153C>A (p.Ser1718Tyr) c.3899C>A (p.Ser1300Tyr) | |
16 | g.2088255C= | CA2202031789 | TSC2 | c.*3538C= (n.*3538C=) c.5036C= (p.Ser1679=) c.5186C= (p.Ser1729=) c.*5702C= (n.*5702C=) c.*7938C= (n.*7938C=) c.5189C= (p.Ser1730=) c.5120C= (p.Ser1707=) c.4988C= (p.Ser1663=) c.5021C= (p.Ser1674=) c.1412C= n.3071C= c.3843C= c.5048C= (p.Ser1683=) n.786C= c.4991C= (p.Ser1664=) c.5057C= (p.Ser1686=) c.4982C= (p.Ser1661=) n.2837C= c.5114C= (p.Ser1705=) c.5060C= (p.Ser1687=) c.5075C= (p.Ser1692=) c.4985C= (p.Ser1662=) c.5110C= n.3273C= c.5183C= (p.Ser1728=) n.4004C= n.2441C= n.2412C= n.2302C= c.4844C= (p.Ser1615=) c.*4356C= (n.*4356C=) c.4880C= (p.Ser1627=) n.2912C= c.1371C= n.2304C= c.5243C= (p.Ser1748=) c.5240C= (p.Ser1747=) c.5132C= (p.Ser1711=) c.5111C= (p.Ser1704=) c.4457C= (p.Ser1486=) c.5405C= (p.Ser1802=) c.5153C= (p.Ser1718=) c.3899C= (p.Ser1300=) | |
16 | g.2088255C>G | CA394314149 | TSC2 | c.*3538C>G (n.*3538C>G) c.5036C>G (p.Ser1679Cys) c.5186C>G (p.Ser1729Cys) c.*5702C>G (n.*5702C>G) c.*7938C>G (n.*7938C>G) c.5189C>G (p.Ser1730Cys) c.5120C>G (p.Ser1707Cys) c.4988C>G (p.Ser1663Cys) c.5021C>G (p.Ser1674Cys) c.1412C>G n.3071C>G c.3843C>G c.5048C>G (p.Ser1683Cys) n.786C>G c.4991C>G (p.Ser1664Cys) c.5057C>G (p.Ser1686Cys) c.4982C>G (p.Ser1661Cys) n.2837C>G c.5114C>G (p.Ser1705Cys) c.5060C>G (p.Ser1687Cys) c.5075C>G (p.Ser1692Cys) c.4985C>G (p.Ser1662Cys) c.5110C>G n.3273C>G c.5183C>G (p.Ser1728Cys) n.4004C>G n.2441C>G n.2412C>G n.2302C>G c.4844C>G (p.Ser1615Cys) c.*4356C>G (n.*4356C>G) c.4880C>G (p.Ser1627Cys) n.2912C>G c.1371C>G n.2304C>G c.5243C>G (p.Ser1748Cys) c.5240C>G (p.Ser1747Cys) c.5132C>G (p.Ser1711Cys) c.5111C>G (p.Ser1704Cys) c.4457C>G (p.Ser1486Cys) c.5405C>G (p.Ser1802Cys) c.5153C>G (p.Ser1718Cys) c.3899C>G (p.Ser1300Cys) | ClinVar dbSNP gnomAD v4 |
16 | g.2088255C>T | CA394314151 | TSC2 | c.*3538C>T (n.*3538C>T) c.5036C>T (p.Ser1679Phe) c.5186C>T (p.Ser1729Phe) c.*5702C>T (n.*5702C>T) c.*7938C>T (n.*7938C>T) c.5189C>T (p.Ser1730Phe) c.5120C>T (p.Ser1707Phe) c.4988C>T (p.Ser1663Phe) c.5021C>T (p.Ser1674Phe) c.1412C>T n.3071C>T c.3843C>T c.5048C>T (p.Ser1683Phe) n.786C>T c.4991C>T (p.Ser1664Phe) c.5057C>T (p.Ser1686Phe) c.4982C>T (p.Ser1661Phe) n.2837C>T c.5114C>T (p.Ser1705Phe) c.5060C>T (p.Ser1687Phe) c.5075C>T (p.Ser1692Phe) c.4985C>T (p.Ser1662Phe) c.5110C>T n.3273C>T c.5183C>T (p.Ser1728Phe) n.4004C>T n.2441C>T n.2412C>T n.2302C>T c.4844C>T (p.Ser1615Phe) c.*4356C>T (n.*4356C>T) c.4880C>T (p.Ser1627Phe) n.2912C>T c.1371C>T n.2304C>T c.5243C>T (p.Ser1748Phe) c.5240C>T (p.Ser1747Phe) c.5132C>T (p.Ser1711Phe) c.5111C>T (p.Ser1704Phe) c.4457C>T (p.Ser1486Phe) c.5405C>T (p.Ser1802Phe) c.5153C>T (p.Ser1718Phe) c.3899C>T (p.Ser1300Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088256C>A | CA493043755 | TSC2 | c.*3539C>A (n.*3539C>A) c.5037C>A (p.Ser1679=) c.5187C>A (p.Ser1729=) c.*5703C>A (n.*5703C>A) c.*7939C>A (n.*7939C>A) c.5190C>A (p.Ser1730=) c.5121C>A (p.Ser1707=) c.4989C>A (p.Ser1663=) c.5022C>A (p.Ser1674=) c.1413C>A n.3072C>A c.3844C>A c.5049C>A (p.Ser1683=) n.787C>A c.4992C>A (p.Ser1664=) c.5058C>A (p.Ser1686=) c.4983C>A (p.Ser1661=) n.2838C>A c.5115C>A (p.Ser1705=) c.5061C>A (p.Ser1687=) c.5076C>A (p.Ser1692=) c.4986C>A (p.Ser1662=) c.5111C>A n.3274C>A c.5184C>A (p.Ser1728=) n.4005C>A n.2442C>A n.2413C>A n.2303C>A c.4845C>A (p.Ser1615=) c.*4357C>A (n.*4357C>A) c.4881C>A (p.Ser1627=) n.2913C>A c.1372C>A n.2305C>A c.5244C>A (p.Ser1748=) c.5241C>A (p.Ser1747=) c.5133C>A (p.Ser1711=) c.5112C>A (p.Ser1704=) c.4458C>A (p.Ser1486=) c.5406C>A (p.Ser1802=) c.5154C>A (p.Ser1718=) c.3900C>A (p.Ser1300=) | ClinVar dbSNP |
16 | g.2088256C= | CA2202031799 | TSC2 | c.*3539C= (n.*3539C=) c.5037C= (p.Ser1679=) c.5187C= (p.Ser1729=) c.*5703C= (n.*5703C=) c.*7939C= (n.*7939C=) c.5190C= (p.Ser1730=) c.5121C= (p.Ser1707=) c.4989C= (p.Ser1663=) c.5022C= (p.Ser1674=) c.1413C= n.3072C= c.3844C= c.5049C= (p.Ser1683=) n.787C= c.4992C= (p.Ser1664=) c.5058C= (p.Ser1686=) c.4983C= (p.Ser1661=) n.2838C= c.5115C= (p.Ser1705=) c.5061C= (p.Ser1687=) c.5076C= (p.Ser1692=) c.4986C= (p.Ser1662=) c.5111C= n.3274C= c.5184C= (p.Ser1728=) n.4005C= n.2442C= n.2413C= n.2303C= c.4845C= (p.Ser1615=) c.*4357C= (n.*4357C=) c.4881C= (p.Ser1627=) n.2913C= c.1372C= n.2305C= c.5244C= (p.Ser1748=) c.5241C= (p.Ser1747=) c.5133C= (p.Ser1711=) c.5112C= (p.Ser1704=) c.4458C= (p.Ser1486=) c.5406C= (p.Ser1802=) c.5154C= (p.Ser1718=) c.3900C= (p.Ser1300=) | |
16 | g.2088256C>G | CA493043754 | TSC2 | c.*3539C>G (n.*3539C>G) c.5037C>G (p.Ser1679=) c.5187C>G (p.Ser1729=) c.*5703C>G (n.*5703C>G) c.*7939C>G (n.*7939C>G) c.5190C>G (p.Ser1730=) c.5121C>G (p.Ser1707=) c.4989C>G (p.Ser1663=) c.5022C>G (p.Ser1674=) c.1413C>G n.3072C>G c.3844C>G c.5049C>G (p.Ser1683=) n.787C>G c.4992C>G (p.Ser1664=) c.5058C>G (p.Ser1686=) c.4983C>G (p.Ser1661=) n.2838C>G c.5115C>G (p.Ser1705=) c.5061C>G (p.Ser1687=) c.5076C>G (p.Ser1692=) c.4986C>G (p.Ser1662=) c.5111C>G n.3274C>G c.5184C>G (p.Ser1728=) n.4005C>G n.2442C>G n.2413C>G n.2303C>G c.4845C>G (p.Ser1615=) c.*4357C>G (n.*4357C>G) c.4881C>G (p.Ser1627=) n.2913C>G c.1372C>G n.2305C>G c.5244C>G (p.Ser1748=) c.5241C>G (p.Ser1747=) c.5133C>G (p.Ser1711=) c.5112C>G (p.Ser1704=) c.4458C>G (p.Ser1486=) c.5406C>G (p.Ser1802=) c.5154C>G (p.Ser1718=) c.3900C>G (p.Ser1300=) | dbSNP |
16 | g.2088256C>T | CA493043753 | TSC2 | c.*3539C>T (n.*3539C>T) c.5037C>T (p.Ser1679=) c.5187C>T (p.Ser1729=) c.*5703C>T (n.*5703C>T) c.*7939C>T (n.*7939C>T) c.5190C>T (p.Ser1730=) c.5121C>T (p.Ser1707=) c.4989C>T (p.Ser1663=) c.5022C>T (p.Ser1674=) c.1413C>T n.3072C>T c.3844C>T c.5049C>T (p.Ser1683=) n.787C>T c.4992C>T (p.Ser1664=) c.5058C>T (p.Ser1686=) c.4983C>T (p.Ser1661=) n.2838C>T c.5115C>T (p.Ser1705=) c.5061C>T (p.Ser1687=) c.5076C>T (p.Ser1692=) c.4986C>T (p.Ser1662=) c.5111C>T n.3274C>T c.5184C>T (p.Ser1728=) n.4005C>T n.2442C>T n.2413C>T n.2303C>T c.4845C>T (p.Ser1615=) c.*4357C>T (n.*4357C>T) c.4881C>T (p.Ser1627=) n.2913C>T c.1372C>T n.2305C>T c.5244C>T (p.Ser1748=) c.5241C>T (p.Ser1747=) c.5133C>T (p.Ser1711=) c.5112C>T (p.Ser1704=) c.4458C>T (p.Ser1486=) c.5406C>T (p.Ser1802=) c.5154C>T (p.Ser1718=) c.3900C>T (p.Ser1300=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088256_2088257delinsCA | CA2202031802 | TSC2 | c.*3539_*3540delinsCA (n.*3539_*3540delinsCA) c.5037_5038delinsCA (p.Ser1679=) c.5187_5188delinsCA (p.Ser1729=) c.*5703_*5704delinsCA (n.*5703_*5704delinsCA) c.*7939_*7940delinsCA (n.*7939_*7940delinsCA) c.5190_5191delinsCA (p.Ser1730=) c.5121_5122delinsCA (p.Ser1707=) c.4989_4990delinsCA (p.Ser1663=) c.5022_5023delinsCA (p.Ser1674=) c.1413_1414delinsCA n.3072_3073delinsCA c.3844_3845delinsCA c.5049_5050delinsCA (p.Ser1683=) n.787_788delinsCA c.4992_4993delinsCA (p.Ser1664=) c.5058_5059delinsCA (p.Ser1686=) c.4983_4984delinsCA (p.Ser1661=) n.2838_2839delinsCA c.5115_5116delinsCA (p.Ser1705=) c.5061_5062delinsCA (p.Ser1687=) c.5076_5077delinsCA (p.Ser1692=) c.4986_4987delinsCA (p.Ser1662=) c.5111_5112delinsCA n.3274_3275delinsCA c.5184_5185delinsCA (p.Ser1728=) n.4005_4006delinsCA n.2442_2443delinsCA n.2413_2414delinsCA n.2303_2304delinsCA c.4845_4846delinsCA (p.Ser1615=) c.*4357_*4358delinsCA (n.*4357_*4358delinsCA) c.4881_4882delinsCA (p.Ser1627=) n.2913_2914delinsCA c.1372_1373delinsCA n.2305_2306delinsCA c.5244_5245delinsCA (p.Ser1748=) c.5241_5242delinsCA (p.Ser1747=) c.5133_5134delinsCA (p.Ser1711=) c.5112_5113delinsCA (p.Ser1704=) c.4458_4459delinsCA (p.Ser1486=) c.5406_5407delinsCA (p.Ser1802=) c.5154_5155delinsCA (p.Ser1718=) c.3900_3901delinsCA (p.Ser1300=) | |
16 | g.2088257A= | CA2202031811 | TSC2 | c.*3540A= (n.*3540A=) c.5038A= (p.Asn1680=) c.5188A= (p.Asn1730=) c.*5704A= (n.*5704A=) c.*7940A= (n.*7940A=) c.5191A= (p.Asn1731=) c.5122A= (p.Asn1708=) c.4990A= (p.Asn1664=) c.5023A= (p.Asn1675=) c.1414A= n.3073A= c.3845A= c.5050A= (p.Asn1684=) n.788A= c.4993A= (p.Asn1665=) c.5059A= (p.Asn1687=) c.4984A= (p.Asn1662=) n.2839A= c.5116A= (p.Asn1706=) c.5062A= (p.Asn1688=) c.5077A= (p.Asn1693=) c.4987A= (p.Asn1663=) c.5112A= n.3275A= c.5185A= (p.Asn1729=) n.4006A= n.2443A= n.2414A= n.2304A= c.4846A= (p.Asn1616=) c.*4358A= (n.*4358A=) c.4882A= (p.Asn1628=) n.2914A= c.1373A= n.2306A= c.5245A= (p.Asn1749=) c.5242A= (p.Asn1748=) c.5134A= (p.Asn1712=) c.5113A= (p.Asn1705=) c.4459A= (p.Asn1487=) c.5407A= (p.Asn1803=) c.5155A= (p.Asn1719=) c.3901A= (p.Asn1301=) | |
16 | g.2088257A>C | CA394314161 | TSC2 | c.*3540A>C (n.*3540A>C) c.5038A>C (p.Asn1680His) c.5188A>C (p.Asn1730His) c.*5704A>C (n.*5704A>C) c.*7940A>C (n.*7940A>C) c.5191A>C (p.Asn1731His) c.5122A>C (p.Asn1708His) c.4990A>C (p.Asn1664His) c.5023A>C (p.Asn1675His) c.1414A>C n.3073A>C c.3845A>C c.5050A>C (p.Asn1684His) n.788A>C c.4993A>C (p.Asn1665His) c.5059A>C (p.Asn1687His) c.4984A>C (p.Asn1662His) n.2839A>C c.5116A>C (p.Asn1706His) c.5062A>C (p.Asn1688His) c.5077A>C (p.Asn1693His) c.4987A>C (p.Asn1663His) c.5112A>C n.3275A>C c.5185A>C (p.Asn1729His) n.4006A>C n.2443A>C n.2414A>C n.2304A>C c.4846A>C (p.Asn1616His) c.*4358A>C (n.*4358A>C) c.4882A>C (p.Asn1628His) n.2914A>C c.1373A>C n.2306A>C c.5245A>C (p.Asn1749His) c.5242A>C (p.Asn1748His) c.5134A>C (p.Asn1712His) c.5113A>C (p.Asn1705His) c.4459A>C (p.Asn1487His) c.5407A>C (p.Asn1803His) c.5155A>C (p.Asn1719His) c.3901A>C (p.Asn1301His) | ClinVar dbSNP gnomAD v4 |
16 | g.2088257A>G | CA394314156 | TSC2 | c.*3540A>G (n.*3540A>G) c.5038A>G (p.Asn1680Asp) c.5188A>G (p.Asn1730Asp) c.*5704A>G (n.*5704A>G) c.*7940A>G (n.*7940A>G) c.5191A>G (p.Asn1731Asp) c.5122A>G (p.Asn1708Asp) c.4990A>G (p.Asn1664Asp) c.5023A>G (p.Asn1675Asp) c.1414A>G n.3073A>G c.3845A>G c.5050A>G (p.Asn1684Asp) n.788A>G c.4993A>G (p.Asn1665Asp) c.5059A>G (p.Asn1687Asp) c.4984A>G (p.Asn1662Asp) n.2839A>G c.5116A>G (p.Asn1706Asp) c.5062A>G (p.Asn1688Asp) c.5077A>G (p.Asn1693Asp) c.4987A>G (p.Asn1663Asp) c.5112A>G n.3275A>G c.5185A>G (p.Asn1729Asp) n.4006A>G n.2443A>G n.2414A>G n.2304A>G c.4846A>G (p.Asn1616Asp) c.*4358A>G (n.*4358A>G) c.4882A>G (p.Asn1628Asp) n.2914A>G c.1373A>G n.2306A>G c.5245A>G (p.Asn1749Asp) c.5242A>G (p.Asn1748Asp) c.5134A>G (p.Asn1712Asp) c.5113A>G (p.Asn1705Asp) c.4459A>G (p.Asn1487Asp) c.5407A>G (p.Asn1803Asp) c.5155A>G (p.Asn1719Asp) c.3901A>G (p.Asn1301Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088257A>T | CA394314159 | TSC2 | c.*3540A>T (n.*3540A>T) c.5038A>T (p.Asn1680Tyr) c.5188A>T (p.Asn1730Tyr) c.*5704A>T (n.*5704A>T) c.*7940A>T (n.*7940A>T) c.5191A>T (p.Asn1731Tyr) c.5122A>T (p.Asn1708Tyr) c.4990A>T (p.Asn1664Tyr) c.5023A>T (p.Asn1675Tyr) c.1414A>T n.3073A>T c.3845A>T c.5050A>T (p.Asn1684Tyr) n.788A>T c.4993A>T (p.Asn1665Tyr) c.5059A>T (p.Asn1687Tyr) c.4984A>T (p.Asn1662Tyr) n.2839A>T c.5116A>T (p.Asn1706Tyr) c.5062A>T (p.Asn1688Tyr) c.5077A>T (p.Asn1693Tyr) c.4987A>T (p.Asn1663Tyr) c.5112A>T n.3275A>T c.5185A>T (p.Asn1729Tyr) n.4006A>T n.2443A>T n.2414A>T n.2304A>T c.4846A>T (p.Asn1616Tyr) c.*4358A>T (n.*4358A>T) c.4882A>T (p.Asn1628Tyr) n.2914A>T c.1373A>T n.2306A>T c.5245A>T (p.Asn1749Tyr) c.5242A>T (p.Asn1748Tyr) c.5134A>T (p.Asn1712Tyr) c.5113A>T (p.Asn1705Tyr) c.4459A>T (p.Asn1487Tyr) c.5407A>T (p.Asn1803Tyr) c.5155A>T (p.Asn1719Tyr) c.3901A>T (p.Asn1301Tyr) | |
16 | g.2088258dup | CA2695221754 | TSC2 | c.*3541dup (n.*3541dup) c.5039dup (p.Asn1680LysfsTer?) c.5189dup (p.Asn1730LysfsTer?) c.*5705dup (n.*5705dup) c.*7941dup (n.*7941dup) c.5192dup (p.Asn1731LysfsTer?) c.5123dup (p.Asn1708LysfsTer?) c.4991dup (p.Asn1664LysfsTer?) c.5024dup (p.Asn1675LysfsTer?) c.1415dup n.3074dup c.3846dup c.5051dup (p.Asn1684LysfsTer?) n.789dup c.4994dup (p.Asn1665LysfsTer?) c.5060dup (p.Asn1687LysfsTer?) c.4985dup (p.Asn1662LysfsTer?) n.2840dup c.5117dup (p.Asn1706LysfsTer?) c.5063dup (p.Asn1688LysfsTer?) c.5078dup (p.Asn1693LysfsTer?) c.4988dup (p.Asn1663LysfsTer?) c.5113dup n.3276dup c.5186dup (p.Asn1729LysfsTer?) n.4007dup n.2444dup n.2415dup n.2305dup c.4847dup (p.Asn1616LysfsTer?) c.*4359dup (n.*4359dup) c.4883dup (p.Asn1628LysfsTer?) n.2915dup c.1374dup n.2307dup c.5246dup (p.Asn1749LysfsTer?) c.5243dup (p.Asn1748LysfsTer?) c.5135dup (p.Asn1712LysfsTer?) c.5114dup (p.Asn1705LysfsTer?) c.4460dup (p.Asn1487LysfsTer?) c.5408dup (p.Asn1803LysfsTer?) c.5156dup (p.Asn1719LysfsTer?) c.3902dup (p.Asn1301LysfsTer?) | |
16 | g.2088258del | CA022102 | TSC2 | c.*3541del (n.*3541del) c.5039del (p.Asn1680ThrfsTer?) c.5189del (p.Asn1730ThrfsTer?) c.*5705del (n.*5705del) c.*7941del (n.*7941del) c.5192del (p.Asn1731ThrfsTer?) c.5123del (p.Asn1708ThrfsTer?) c.4991del (p.Asn1664ThrfsTer?) c.5024del (p.Asn1675ThrfsTer?) c.1415del n.3074del c.3846del c.5051del (p.Asn1684ThrfsTer?) n.789del c.4994del (p.Asn1665ThrfsTer?) c.5060del (p.Asn1687ThrfsTer?) c.4985del (p.Asn1662ThrfsTer?) n.2840del c.5117del (p.Asn1706ThrfsTer?) c.5063del (p.Asn1688ThrfsTer?) c.5078del (p.Asn1693ThrfsTer?) c.4988del (p.Asn1663ThrfsTer?) c.5113del n.3276del c.5186del (p.Asn1729ThrfsTer?) n.4007del n.2444del n.2415del n.2305del c.4847del (p.Asn1616ThrfsTer?) c.*4359del (n.*4359del) c.4883del (p.Asn1628ThrfsTer?) n.2915del c.1374del n.2307del c.5246del (p.Asn1749ThrfsTer?) c.5243del (p.Asn1748ThrfsTer?) c.5135del (p.Asn1712ThrfsTer?) c.5114del (p.Asn1705ThrfsTer?) c.4460del (p.Asn1487ThrfsTer?) c.5408del (p.Asn1803ThrfsTer?) c.5156del (p.Asn1719ThrfsTer?) c.3902del (p.Asn1301ThrfsTer?) | ClinVar dbSNP |
16 | g.2088257_2088260delinsAACC | CA2202031808 | TSC2 | c.*3540_*3543delinsAACC (n.*3540_*3543delinsAACC) c.5038_5041delinsAACC (p.Asn1680=) c.5188_5191delinsAACC (p.Asn1730=) c.*5704_*5707delinsAACC (n.*5704_*5707delinsAACC) c.*7940_*7943delinsAACC (n.*7940_*7943delinsAACC) c.5191_5194delinsAACC (p.Asn1731=) c.5122_5125delinsAACC (p.Asn1708=) c.4990_4993delinsAACC (p.Asn1664=) c.5023_5026delinsAACC (p.Asn1675=) c.1414_1417delinsAACC n.3073_3076delinsAACC c.3845_3848delinsAACC c.5050_5053delinsAACC (p.Asn1684=) n.788_791delinsAACC c.4993_4996delinsAACC (p.Asn1665=) c.5059_5062delinsAACC (p.Asn1687=) c.4984_4987delinsAACC (p.Asn1662=) n.2839_2842delinsAACC c.5116_5119delinsAACC (p.Asn1706=) c.5062_5065delinsAACC (p.Asn1688=) c.5077_5080delinsAACC (p.Asn1693=) c.4987_4990delinsAACC (p.Asn1663=) c.5112_5115delinsAACC n.3275_3278delinsAACC c.5185_5188delinsAACC (p.Asn1729=) n.4006_4009delinsAACC n.2443_2446delinsAACC n.2414_2417delinsAACC n.2304_2307delinsAACC c.4846_4849delinsAACC (p.Asn1616=) c.*4358_*4361delinsAACC (n.*4358_*4361delinsAACC) c.4882_4885delinsAACC (p.Asn1628=) n.2914_2917delinsAACC c.1373_1376delinsAACC n.2306_2309delinsAACC c.5245_5248delinsAACC (p.Asn1749=) c.5242_5245delinsAACC (p.Asn1748=) c.5134_5137delinsAACC (p.Asn1712=) c.5113_5116delinsAACC (p.Asn1705=) c.4459_4462delinsAACC (p.Asn1487=) c.5407_5410delinsAACC (p.Asn1803=) c.5155_5158delinsAACC (p.Asn1719=) c.3901_3904delinsAACC (p.Asn1301=) | |
16 | g.2088257_2088272delinsAACCCCACCGATATCT | CA2202031818 | TSC2 | c.*3540_*3555delinsAACCCCACCGATATCT (n.*3540_*3555delinsAACCCCACCGATATCT) c.5038_5053delinsAACCCCACCGATATCT (p.Asn1680=) c.5188_5203delinsAACCCCACCGATATCT (p.Asn1730=) c.*5704_*5719delinsAACCCCACCGATATCT (n.*5704_*5719delinsAACCCCACCGATATCT) c.*7940_*7955delinsAACCCCACCGATATCT (n.*7940_*7955delinsAACCCCACCGATATCT) c.5191_5206delinsAACCCCACCGATATCT (p.Asn1731=) c.5122_5137delinsAACCCCACCGATATCT (p.Asn1708=) c.4990_5005delinsAACCCCACCGATATCT (p.Asn1664=) c.5023_5038delinsAACCCCACCGATATCT (p.Asn1675=) c.1414_1429delinsAACCCCACCGATATCT n.3073_3088delinsAACCCCACCGATATCT c.3845_3860delinsAACCCCACCGATATCT c.5050_5065delinsAACCCCACCGATATCT (p.Asn1684=) n.788_803delinsAACCCCACCGATATCT c.4993_5008delinsAACCCCACCGATATCT (p.Asn1665=) c.5059_5074delinsAACCCCACCGATATCT (p.Asn1687=) c.4984_4999delinsAACCCCACCGATATCT (p.Asn1662=) n.2839_2854delinsAACCCCACCGATATCT c.5116_5131delinsAACCCCACCGATATCT (p.Asn1706=) c.5062_5077delinsAACCCCACCGATATCT (p.Asn1688=) c.5077_5092delinsAACCCCACCGATATCT (p.Asn1693=) c.4987_5002delinsAACCCCACCGATATCT (p.Asn1663=) c.5112_5127delinsAACCCCACCGATATCT n.3275_3290delinsAACCCCACCGATATCT c.5185_5200delinsAACCCCACCGATATCT (p.Asn1729=) n.4006_4021delinsAACCCCACCGATATCT n.2443_2458delinsAACCCCACCGATATCT n.2414_2429delinsAACCCCACCGATATCT n.2304_2319delinsAACCCCACCGATATCT c.4846_4861delinsAACCCCACCGATATCT (p.Asn1616=) c.*4358_*4373delinsAACCCCACCGATATCT (n.*4358_*4373delinsAACCCCACCGATATCT) c.4882_4897delinsAACCCCACCGATATCT (p.Asn1628=) n.2914_2929delinsAACCCCACCGATATCT c.1373_1388delinsAACCCCACCGATATCT n.2306_2321delinsAACCCCACCGATATCT c.5245_5260delinsAACCCCACCGATATCT (p.Asn1749=) c.5242_5257delinsAACCCCACCGATATCT (p.Asn1748=) c.5134_5149delinsAACCCCACCGATATCT (p.Asn1712=) c.5113_5128delinsAACCCCACCGATATCT (p.Asn1705=) c.4459_4474delinsAACCCCACCGATATCT (p.Asn1487=) c.5407_5422delinsAACCCCACCGATATCT (p.Asn1803=) c.5155_5170delinsAACCCCACCGATATCT (p.Asn1719=) c.3901_3916delinsAACCCCACCGATATCT (p.Asn1301=) | |
16 | g.2088258A= | CA2202031830 | TSC2 | c.*3541A= (n.*3541A=) c.5039A= (p.Asn1680=) c.5189A= (p.Asn1730=) c.*5705A= (n.*5705A=) c.*7941A= (n.*7941A=) c.5192A= (p.Asn1731=) c.5123A= (p.Asn1708=) c.4991A= (p.Asn1664=) c.5024A= (p.Asn1675=) c.1415A= n.3074A= c.3846A= c.5051A= (p.Asn1684=) n.789A= c.4994A= (p.Asn1665=) c.5060A= (p.Asn1687=) c.4985A= (p.Asn1662=) n.2840A= c.5117A= (p.Asn1706=) c.5063A= (p.Asn1688=) c.5078A= (p.Asn1693=) c.4988A= (p.Asn1663=) c.5113A= n.3276A= c.5186A= (p.Asn1729=) n.4007A= n.2444A= n.2415A= n.2305A= c.4847A= (p.Asn1616=) c.*4359A= (n.*4359A=) c.4883A= (p.Asn1628=) n.2915A= c.1374A= n.2307A= c.5246A= (p.Asn1749=) c.5243A= (p.Asn1748=) c.5135A= (p.Asn1712=) c.5114A= (p.Asn1705=) c.4460A= (p.Asn1487=) c.5408A= (p.Asn1803=) c.5156A= (p.Asn1719=) c.3902A= (p.Asn1301=) | |
16 | g.2088258A>C | CA394314166 | TSC2 | c.*3541A>C (n.*3541A>C) c.5039A>C (p.Asn1680Thr) c.5189A>C (p.Asn1730Thr) c.*5705A>C (n.*5705A>C) c.*7941A>C (n.*7941A>C) c.5192A>C (p.Asn1731Thr) c.5123A>C (p.Asn1708Thr) c.4991A>C (p.Asn1664Thr) c.5024A>C (p.Asn1675Thr) c.1415A>C n.3074A>C c.3846A>C c.5051A>C (p.Asn1684Thr) n.789A>C c.4994A>C (p.Asn1665Thr) c.5060A>C (p.Asn1687Thr) c.4985A>C (p.Asn1662Thr) n.2840A>C c.5117A>C (p.Asn1706Thr) c.5063A>C (p.Asn1688Thr) c.5078A>C (p.Asn1693Thr) c.4988A>C (p.Asn1663Thr) c.5113A>C n.3276A>C c.5186A>C (p.Asn1729Thr) n.4007A>C n.2444A>C n.2415A>C n.2305A>C c.4847A>C (p.Asn1616Thr) c.*4359A>C (n.*4359A>C) c.4883A>C (p.Asn1628Thr) n.2915A>C c.1374A>C n.2307A>C c.5246A>C (p.Asn1749Thr) c.5243A>C (p.Asn1748Thr) c.5135A>C (p.Asn1712Thr) c.5114A>C (p.Asn1705Thr) c.4460A>C (p.Asn1487Thr) c.5408A>C (p.Asn1803Thr) c.5156A>C (p.Asn1719Thr) c.3902A>C (p.Asn1301Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088258A>G | CA054360 | TSC2 | c.*3541A>G (n.*3541A>G) c.5039A>G (p.Asn1680Ser) c.5189A>G (p.Asn1730Ser) c.*5705A>G (n.*5705A>G) c.*7941A>G (n.*7941A>G) c.5192A>G (p.Asn1731Ser) c.5123A>G (p.Asn1708Ser) c.4991A>G (p.Asn1664Ser) c.5024A>G (p.Asn1675Ser) c.1415A>G n.3074A>G c.3846A>G c.5051A>G (p.Asn1684Ser) n.789A>G c.4994A>G (p.Asn1665Ser) c.5060A>G (p.Asn1687Ser) c.4985A>G (p.Asn1662Ser) n.2840A>G c.5117A>G (p.Asn1706Ser) c.5063A>G (p.Asn1688Ser) c.5078A>G (p.Asn1693Ser) c.4988A>G (p.Asn1663Ser) c.5113A>G n.3276A>G c.5186A>G (p.Asn1729Ser) n.4007A>G n.2444A>G n.2415A>G n.2305A>G c.4847A>G (p.Asn1616Ser) c.*4359A>G (n.*4359A>G) c.4883A>G (p.Asn1628Ser) n.2915A>G c.1374A>G n.2307A>G c.5246A>G (p.Asn1749Ser) c.5243A>G (p.Asn1748Ser) c.5135A>G (p.Asn1712Ser) c.5114A>G (p.Asn1705Ser) c.4460A>G (p.Asn1487Ser) c.5408A>G (p.Asn1803Ser) c.5156A>G (p.Asn1719Ser) c.3902A>G (p.Asn1301Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088258A>T | CA394314171 | TSC2 | c.*3541A>T (n.*3541A>T) c.5039A>T (p.Asn1680Ile) c.5189A>T (p.Asn1730Ile) c.*5705A>T (n.*5705A>T) c.*7941A>T (n.*7941A>T) c.5192A>T (p.Asn1731Ile) c.5123A>T (p.Asn1708Ile) c.4991A>T (p.Asn1664Ile) c.5024A>T (p.Asn1675Ile) c.1415A>T n.3074A>T c.3846A>T c.5051A>T (p.Asn1684Ile) n.789A>T c.4994A>T (p.Asn1665Ile) c.5060A>T (p.Asn1687Ile) c.4985A>T (p.Asn1662Ile) n.2840A>T c.5117A>T (p.Asn1706Ile) c.5063A>T (p.Asn1688Ile) c.5078A>T (p.Asn1693Ile) c.4988A>T (p.Asn1663Ile) c.5113A>T n.3276A>T c.5186A>T (p.Asn1729Ile) n.4007A>T n.2444A>T n.2415A>T n.2305A>T c.4847A>T (p.Asn1616Ile) c.*4359A>T (n.*4359A>T) c.4883A>T (p.Asn1628Ile) n.2915A>T c.1374A>T n.2307A>T c.5246A>T (p.Asn1749Ile) c.5243A>T (p.Asn1748Ile) c.5135A>T (p.Asn1712Ile) c.5114A>T (p.Asn1705Ile) c.4460A>T (p.Asn1487Ile) c.5408A>T (p.Asn1803Ile) c.5156A>T (p.Asn1719Ile) c.3902A>T (p.Asn1301Ile) | |
16 | g.2088258_2088260del | CA620705068 | TSC2 | c.*3541_*3543del (n.*3541_*3543del) c.5039_5041del (p.Asn1680_Pro1681delinsThr) c.5189_5191del (p.Asn1730_Pro1731delinsThr) c.*5705_*5707del (n.*5705_*5707del) c.*7941_*7943del (n.*7941_*7943del) c.5192_5194del (p.Asn1731_Pro1732delinsThr) c.5123_5125del (p.Asn1708_Pro1709delinsThr) c.4991_4993del (p.Asn1664_Pro1665delinsThr) c.5024_5026del (p.Asn1675_Pro1676delinsThr) c.1415_1417del n.3074_3076del c.3846_3848del c.5051_5053del (p.Asn1684_Pro1685delinsThr) n.789_791del c.4994_4996del (p.Asn1665_Pro1666delinsThr) c.5060_5062del (p.Asn1687_Pro1688delinsThr) c.4985_4987del (p.Asn1662_Pro1663delinsThr) n.2840_2842del c.5117_5119del (p.Asn1706_Pro1707delinsThr) c.5063_5065del (p.Asn1688_Pro1689delinsThr) c.5078_5080del (p.Asn1693_Pro1694delinsThr) c.4988_4990del (p.Asn1663_Pro1664delinsThr) c.5113_5115del n.3276_3278del c.5186_5188del (p.Asn1729_Pro1730delinsThr) n.4007_4009del n.2444_2446del n.2415_2417del n.2305_2307del c.4847_4849del (p.Asn1616_Pro1617delinsThr) c.*4359_*4361del (n.*4359_*4361del) c.4883_4885del (p.Asn1628_Pro1629delinsThr) n.2915_2917del c.1374_1376del n.2307_2309del c.5246_5248del (p.Asn1749_Pro1750delinsThr) c.5243_5245del (p.Asn1748_Pro1749delinsThr) c.5135_5137del (p.Asn1712_Pro1713delinsThr) c.5114_5116del (p.Asn1705_Pro1706delinsThr) c.4460_4462del (p.Asn1487_Pro1488delinsThr) c.5408_5410del (p.Asn1803_Pro1804delinsThr) c.5156_5158del (p.Asn1719_Pro1720delinsThr) c.3902_3904del (p.Asn1301_Pro1302delinsThr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088263_2088277del | CA658656652 | TSC2 | c.*3546_*3560del (n.*3546_*3560del) c.5044_5058del (p.Thr1682_Pro1686del) c.5194_5208del (p.Thr1732_Pro1736del) c.*5710_*5724del (n.*5710_*5724del) c.*7946_*7960del (n.*7946_*7960del) c.5197_5211del (p.Thr1733_Pro1737del) c.5128_5142del (p.Thr1710_Pro1714del) c.4996_5010del (p.Thr1666_Pro1670del) c.5029_5043del (p.Thr1677_Pro1681del) c.1420_1434del n.3079_3093del c.3851_3865del c.5056_5070del (p.Thr1686_Pro1690del) n.794_808del c.4999_5013del (p.Thr1667_Pro1671del) c.5065_5079del (p.Thr1689_Pro1693del) c.4990_5004del (p.Thr1664_Pro1668del) n.2845_2859del c.5122_5136del (p.Thr1708_Pro1712del) c.5068_5082del (p.Thr1690_Pro1694del) c.5083_5097del (p.Thr1695_Pro1699del) c.4993_5007del (p.Thr1665_Pro1669del) c.5118_5132del n.3281_3295del c.5191_5205del (p.Thr1731_Pro1735del) n.4012_4026del n.2449_2463del n.2420_2434del n.2310_2324del c.4852_4866del (p.Thr1618_Pro1622del) c.*4364_*4378del (n.*4364_*4378del) c.4888_4902del (p.Thr1630_Pro1634del) n.2920_2934del c.1379_1393del n.2312_2326del c.5251_5265del (p.Thr1751_Pro1755del) c.5248_5262del (p.Thr1750_Pro1754del) c.5140_5154del (p.Thr1714_Pro1718del) c.5119_5133del (p.Thr1707_Pro1711del) c.4465_4479del (p.Thr1489_Pro1493del) c.5413_5427del (p.Thr1805_Pro1809del) c.5161_5175del (p.Thr1721_Pro1725del) c.3907_3921del (p.Thr1303_Pro1307del) | ClinVar dbSNP |
16 | g.2088259C>A | CA394314174 | TSC2 | c.*3542C>A (n.*3542C>A) c.5040C>A (p.Asn1680Lys) c.5190C>A (p.Asn1730Lys) c.*5706C>A (n.*5706C>A) c.*7942C>A (n.*7942C>A) c.5193C>A (p.Asn1731Lys) c.5124C>A (p.Asn1708Lys) c.4992C>A (p.Asn1664Lys) c.5025C>A (p.Asn1675Lys) c.1416C>A n.3075C>A c.3847C>A c.5052C>A (p.Asn1684Lys) n.790C>A c.4995C>A (p.Asn1665Lys) c.5061C>A (p.Asn1687Lys) c.4986C>A (p.Asn1662Lys) n.2841C>A c.5118C>A (p.Asn1706Lys) c.5064C>A (p.Asn1688Lys) c.5079C>A (p.Asn1693Lys) c.4989C>A (p.Asn1663Lys) c.5114C>A n.3277C>A c.5187C>A (p.Asn1729Lys) n.4008C>A n.2445C>A n.2416C>A n.2306C>A c.4848C>A (p.Asn1616Lys) c.*4360C>A (n.*4360C>A) c.4884C>A (p.Asn1628Lys) n.2916C>A c.1375C>A n.2308C>A c.5247C>A (p.Asn1749Lys) c.5244C>A (p.Asn1748Lys) c.5136C>A (p.Asn1712Lys) c.5115C>A (p.Asn1705Lys) c.4461C>A (p.Asn1487Lys) c.5409C>A (p.Asn1803Lys) c.5157C>A (p.Asn1719Lys) c.3903C>A (p.Asn1301Lys) | ClinVar dbSNP gnomAD v4 |
16 | g.2088259C= | CA2202031842 | TSC2 | c.*3542C= (n.*3542C=) c.5040C= (p.Asn1680=) c.5190C= (p.Asn1730=) c.*5706C= (n.*5706C=) c.*7942C= (n.*7942C=) c.5193C= (p.Asn1731=) c.5124C= (p.Asn1708=) c.4992C= (p.Asn1664=) c.5025C= (p.Asn1675=) c.1416C= n.3075C= c.3847C= c.5052C= (p.Asn1684=) n.790C= c.4995C= (p.Asn1665=) c.5061C= (p.Asn1687=) c.4986C= (p.Asn1662=) n.2841C= c.5118C= (p.Asn1706=) c.5064C= (p.Asn1688=) c.5079C= (p.Asn1693=) c.4989C= (p.Asn1663=) c.5114C= n.3277C= c.5187C= (p.Asn1729=) n.4008C= n.2445C= n.2416C= n.2306C= c.4848C= (p.Asn1616=) c.*4360C= (n.*4360C=) c.4884C= (p.Asn1628=) n.2916C= c.1375C= n.2308C= c.5247C= (p.Asn1749=) c.5244C= (p.Asn1748=) c.5136C= (p.Asn1712=) c.5115C= (p.Asn1705=) c.4461C= (p.Asn1487=) c.5409C= (p.Asn1803=) c.5157C= (p.Asn1719=) c.3903C= (p.Asn1301=) | |
16 | g.2088259C>G | CA394314180 | TSC2 | c.*3542C>G (n.*3542C>G) c.5040C>G (p.Asn1680Lys) c.5190C>G (p.Asn1730Lys) c.*5706C>G (n.*5706C>G) c.*7942C>G (n.*7942C>G) c.5193C>G (p.Asn1731Lys) c.5124C>G (p.Asn1708Lys) c.4992C>G (p.Asn1664Lys) c.5025C>G (p.Asn1675Lys) c.1416C>G n.3075C>G c.3847C>G c.5052C>G (p.Asn1684Lys) n.790C>G c.4995C>G (p.Asn1665Lys) c.5061C>G (p.Asn1687Lys) c.4986C>G (p.Asn1662Lys) n.2841C>G c.5118C>G (p.Asn1706Lys) c.5064C>G (p.Asn1688Lys) c.5079C>G (p.Asn1693Lys) c.4989C>G (p.Asn1663Lys) c.5114C>G n.3277C>G c.5187C>G (p.Asn1729Lys) n.4008C>G n.2445C>G n.2416C>G n.2306C>G c.4848C>G (p.Asn1616Lys) c.*4360C>G (n.*4360C>G) c.4884C>G (p.Asn1628Lys) n.2916C>G c.1375C>G n.2308C>G c.5247C>G (p.Asn1749Lys) c.5244C>G (p.Asn1748Lys) c.5136C>G (p.Asn1712Lys) c.5115C>G (p.Asn1705Lys) c.4461C>G (p.Asn1487Lys) c.5409C>G (p.Asn1803Lys) c.5157C>G (p.Asn1719Lys) c.3903C>G (p.Asn1301Lys) | dbSNP |
16 | g.2088259C>T | CA054368 | TSC2 | c.*3542C>T (n.*3542C>T) c.5040C>T (p.Asn1680=) c.5190C>T (p.Asn1730=) c.*5706C>T (n.*5706C>T) c.*7942C>T (n.*7942C>T) c.5193C>T (p.Asn1731=) c.5124C>T (p.Asn1708=) c.4992C>T (p.Asn1664=) c.5025C>T (p.Asn1675=) c.1416C>T n.3075C>T c.3847C>T c.5052C>T (p.Asn1684=) n.790C>T c.4995C>T (p.Asn1665=) c.5061C>T (p.Asn1687=) c.4986C>T (p.Asn1662=) n.2841C>T c.5118C>T (p.Asn1706=) c.5064C>T (p.Asn1688=) c.5079C>T (p.Asn1693=) c.4989C>T (p.Asn1663=) c.5114C>T n.3277C>T c.5187C>T (p.Asn1729=) n.4008C>T n.2445C>T n.2416C>T n.2306C>T c.4848C>T (p.Asn1616=) c.*4360C>T (n.*4360C>T) c.4884C>T (p.Asn1628=) n.2916C>T c.1375C>T n.2308C>T c.5247C>T (p.Asn1749=) c.5244C>T (p.Asn1748=) c.5136C>T (p.Asn1712=) c.5115C>T (p.Asn1705=) c.4461C>T (p.Asn1487=) c.5409C>T (p.Asn1803=) c.5157C>T (p.Asn1719=) c.3903C>T (p.Asn1301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088260C>A | CA394314187 | TSC2 | c.*3543C>A (n.*3543C>A) c.5041C>A (p.Pro1681Thr) c.5191C>A (p.Pro1731Thr) c.*5707C>A (n.*5707C>A) c.*7943C>A (n.*7943C>A) c.5194C>A (p.Pro1732Thr) c.5125C>A (p.Pro1709Thr) c.4993C>A (p.Pro1665Thr) c.5026C>A (p.Pro1676Thr) c.1417C>A n.3076C>A c.3848C>A c.5053C>A (p.Pro1685Thr) n.791C>A c.4996C>A (p.Pro1666Thr) c.5062C>A (p.Pro1688Thr) c.4987C>A (p.Pro1663Thr) n.2842C>A c.5119C>A (p.Pro1707Thr) c.5065C>A (p.Pro1689Thr) c.5080C>A (p.Pro1694Thr) c.4990C>A (p.Pro1664Thr) c.5115C>A n.3278C>A c.5188C>A (p.Pro1730Thr) n.4009C>A n.2446C>A n.2417C>A n.2307C>A c.4849C>A (p.Pro1617Thr) c.*4361C>A (n.*4361C>A) c.4885C>A (p.Pro1629Thr) n.2917C>A c.1376C>A n.2309C>A c.5248C>A (p.Pro1750Thr) c.5245C>A (p.Pro1749Thr) c.5137C>A (p.Pro1713Thr) c.5116C>A (p.Pro1706Thr) c.4462C>A (p.Pro1488Thr) c.5410C>A (p.Pro1804Thr) c.5158C>A (p.Pro1720Thr) c.3904C>A (p.Pro1302Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088260C= | CA2202031855 | TSC2 | c.*3543C= (n.*3543C=) c.5041C= (p.Pro1681=) c.5191C= (p.Pro1731=) c.*5707C= (n.*5707C=) c.*7943C= (n.*7943C=) c.5194C= (p.Pro1732=) c.5125C= (p.Pro1709=) c.4993C= (p.Pro1665=) c.5026C= (p.Pro1676=) c.1417C= n.3076C= c.3848C= c.5053C= (p.Pro1685=) n.791C= c.4996C= (p.Pro1666=) c.5062C= (p.Pro1688=) c.4987C= (p.Pro1663=) n.2842C= c.5119C= (p.Pro1707=) c.5065C= (p.Pro1689=) c.5080C= (p.Pro1694=) c.4990C= (p.Pro1664=) c.5115C= n.3278C= c.5188C= (p.Pro1730=) n.4009C= n.2446C= n.2417C= n.2307C= c.4849C= (p.Pro1617=) c.*4361C= (n.*4361C=) c.4885C= (p.Pro1629=) n.2917C= c.1376C= n.2309C= c.5248C= (p.Pro1750=) c.5245C= (p.Pro1749=) c.5137C= (p.Pro1713=) c.5116C= (p.Pro1706=) c.4462C= (p.Pro1488=) c.5410C= (p.Pro1804=) c.5158C= (p.Pro1720=) c.3904C= (p.Pro1302=) | |
16 | g.2088260C>G | CA394314192 | TSC2 | c.*3543C>G (n.*3543C>G) c.5041C>G (p.Pro1681Ala) c.5191C>G (p.Pro1731Ala) c.*5707C>G (n.*5707C>G) c.*7943C>G (n.*7943C>G) c.5194C>G (p.Pro1732Ala) c.5125C>G (p.Pro1709Ala) c.4993C>G (p.Pro1665Ala) c.5026C>G (p.Pro1676Ala) c.1417C>G n.3076C>G c.3848C>G c.5053C>G (p.Pro1685Ala) n.791C>G c.4996C>G (p.Pro1666Ala) c.5062C>G (p.Pro1688Ala) c.4987C>G (p.Pro1663Ala) n.2842C>G c.5119C>G (p.Pro1707Ala) c.5065C>G (p.Pro1689Ala) c.5080C>G (p.Pro1694Ala) c.4990C>G (p.Pro1664Ala) c.5115C>G n.3278C>G c.5188C>G (p.Pro1730Ala) n.4009C>G n.2446C>G n.2417C>G n.2307C>G c.4849C>G (p.Pro1617Ala) c.*4361C>G (n.*4361C>G) c.4885C>G (p.Pro1629Ala) n.2917C>G c.1376C>G n.2309C>G c.5248C>G (p.Pro1750Ala) c.5245C>G (p.Pro1749Ala) c.5137C>G (p.Pro1713Ala) c.5116C>G (p.Pro1706Ala) c.4462C>G (p.Pro1488Ala) c.5410C>G (p.Pro1804Ala) c.5158C>G (p.Pro1720Ala) c.3904C>G (p.Pro1302Ala) | ClinVar dbSNP |
16 | g.2088260C>T | CA054379 | TSC2 | c.*3543C>T (n.*3543C>T) c.5041C>T (p.Pro1681Ser) c.5191C>T (p.Pro1731Ser) c.*5707C>T (n.*5707C>T) c.*7943C>T (n.*7943C>T) c.5194C>T (p.Pro1732Ser) c.5125C>T (p.Pro1709Ser) c.4993C>T (p.Pro1665Ser) c.5026C>T (p.Pro1676Ser) c.1417C>T n.3076C>T c.3848C>T c.5053C>T (p.Pro1685Ser) n.791C>T c.4996C>T (p.Pro1666Ser) c.5062C>T (p.Pro1688Ser) c.4987C>T (p.Pro1663Ser) n.2842C>T c.5119C>T (p.Pro1707Ser) c.5065C>T (p.Pro1689Ser) c.5080C>T (p.Pro1694Ser) c.4990C>T (p.Pro1664Ser) c.5115C>T n.3278C>T c.5188C>T (p.Pro1730Ser) n.4009C>T n.2446C>T n.2417C>T n.2307C>T c.4849C>T (p.Pro1617Ser) c.*4361C>T (n.*4361C>T) c.4885C>T (p.Pro1629Ser) n.2917C>T c.1376C>T n.2309C>T c.5248C>T (p.Pro1750Ser) c.5245C>T (p.Pro1749Ser) c.5137C>T (p.Pro1713Ser) c.5116C>T (p.Pro1706Ser) c.4462C>T (p.Pro1488Ser) c.5410C>T (p.Pro1804Ser) c.5158C>T (p.Pro1720Ser) c.3904C>T (p.Pro1302Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088262_2088265del | CA2580091162 | TSC2 | c.*3545_*3548del (n.*3545_*3548del) c.5043_5046del (p.Thr1682IlefsTer?) c.5193_5196del (p.Thr1732IlefsTer?) c.*5709_*5712del (n.*5709_*5712del) c.*7945_*7948del (n.*7945_*7948del) c.5196_5199del (p.Thr1733IlefsTer?) c.5127_5130del (p.Thr1710IlefsTer?) c.4995_4998del (p.Thr1666IlefsTer?) c.5028_5031del (p.Thr1677IlefsTer?) c.1419_1422del n.3078_3081del c.3850_3853del c.5055_5058del (p.Thr1686IlefsTer?) n.793_796del c.4998_5001del (p.Thr1667IlefsTer?) c.5064_5067del (p.Thr1689IlefsTer?) c.4989_4992del (p.Thr1664IlefsTer?) n.2844_2847del c.5121_5124del (p.Thr1708IlefsTer?) c.5067_5070del (p.Thr1690IlefsTer?) c.5082_5085del (p.Thr1695IlefsTer?) c.4992_4995del (p.Thr1665IlefsTer?) c.5117_5120del n.3280_3283del c.5190_5193del (p.Thr1731IlefsTer?) n.4011_4014del n.2448_2451del n.2419_2422del n.2309_2312del c.4851_4854del (p.Thr1618IlefsTer?) c.*4363_*4366del (n.*4363_*4366del) c.4887_4890del (p.Thr1630IlefsTer?) n.2919_2922del c.1378_1381del n.2311_2314del c.5250_5253del (p.Thr1751IlefsTer?) c.5247_5250del (p.Thr1750IlefsTer?) c.5139_5142del (p.Thr1714IlefsTer?) c.5118_5121del (p.Thr1707IlefsTer?) c.4464_4467del (p.Thr1489IlefsTer?) c.5412_5415del (p.Thr1805IlefsTer?) c.5160_5163del (p.Thr1721IlefsTer?) c.3906_3909del (p.Thr1303IlefsTer?) | ClinVar |
16 | g.2088261C>A | CA394314211 | TSC2 | c.*3544C>A (n.*3544C>A) c.5042C>A (p.Pro1681His) c.5192C>A (p.Pro1731His) c.*5708C>A (n.*5708C>A) c.*7944C>A (n.*7944C>A) c.5195C>A (p.Pro1732His) c.5126C>A (p.Pro1709His) c.4994C>A (p.Pro1665His) c.5027C>A (p.Pro1676His) c.1418C>A n.3077C>A c.3849C>A c.5054C>A (p.Pro1685His) n.792C>A c.4997C>A (p.Pro1666His) c.5063C>A (p.Pro1688His) c.4988C>A (p.Pro1663His) n.2843C>A c.5120C>A (p.Pro1707His) c.5066C>A (p.Pro1689His) c.5081C>A (p.Pro1694His) c.4991C>A (p.Pro1664His) c.5116C>A n.3279C>A c.5189C>A (p.Pro1730His) n.4010C>A n.2447C>A n.2418C>A n.2308C>A c.4850C>A (p.Pro1617His) c.*4362C>A (n.*4362C>A) c.4886C>A (p.Pro1629His) n.2918C>A c.1377C>A n.2310C>A c.5249C>A (p.Pro1750His) c.5246C>A (p.Pro1749His) c.5138C>A (p.Pro1713His) c.5117C>A (p.Pro1706His) c.4463C>A (p.Pro1488His) c.5411C>A (p.Pro1804His) c.5159C>A (p.Pro1720His) c.3905C>A (p.Pro1302His) | dbSNP |
16 | g.2088261C= | CA2202031864 | TSC2 | c.*3544C= (n.*3544C=) c.5042C= (p.Pro1681=) c.5192C= (p.Pro1731=) c.*5708C= (n.*5708C=) c.*7944C= (n.*7944C=) c.5195C= (p.Pro1732=) c.5126C= (p.Pro1709=) c.4994C= (p.Pro1665=) c.5027C= (p.Pro1676=) c.1418C= n.3077C= c.3849C= c.5054C= (p.Pro1685=) n.792C= c.4997C= (p.Pro1666=) c.5063C= (p.Pro1688=) c.4988C= (p.Pro1663=) n.2843C= c.5120C= (p.Pro1707=) c.5066C= (p.Pro1689=) c.5081C= (p.Pro1694=) c.4991C= (p.Pro1664=) c.5116C= n.3279C= c.5189C= (p.Pro1730=) n.4010C= n.2447C= n.2418C= n.2308C= c.4850C= (p.Pro1617=) c.*4362C= (n.*4362C=) c.4886C= (p.Pro1629=) n.2918C= c.1377C= n.2310C= c.5249C= (p.Pro1750=) c.5246C= (p.Pro1749=) c.5138C= (p.Pro1713=) c.5117C= (p.Pro1706=) c.4463C= (p.Pro1488=) c.5411C= (p.Pro1804=) c.5159C= (p.Pro1720=) c.3905C= (p.Pro1302=) | |
16 | g.2088261C>G | CA394314209 | TSC2 | c.*3544C>G (n.*3544C>G) c.5042C>G (p.Pro1681Arg) c.5192C>G (p.Pro1731Arg) c.*5708C>G (n.*5708C>G) c.*7944C>G (n.*7944C>G) c.5195C>G (p.Pro1732Arg) c.5126C>G (p.Pro1709Arg) c.4994C>G (p.Pro1665Arg) c.5027C>G (p.Pro1676Arg) c.1418C>G n.3077C>G c.3849C>G c.5054C>G (p.Pro1685Arg) n.792C>G c.4997C>G (p.Pro1666Arg) c.5063C>G (p.Pro1688Arg) c.4988C>G (p.Pro1663Arg) n.2843C>G c.5120C>G (p.Pro1707Arg) c.5066C>G (p.Pro1689Arg) c.5081C>G (p.Pro1694Arg) c.4991C>G (p.Pro1664Arg) c.5116C>G n.3279C>G c.5189C>G (p.Pro1730Arg) n.4010C>G n.2447C>G n.2418C>G n.2308C>G c.4850C>G (p.Pro1617Arg) c.*4362C>G (n.*4362C>G) c.4886C>G (p.Pro1629Arg) n.2918C>G c.1377C>G n.2310C>G c.5249C>G (p.Pro1750Arg) c.5246C>G (p.Pro1749Arg) c.5138C>G (p.Pro1713Arg) c.5117C>G (p.Pro1706Arg) c.4463C>G (p.Pro1488Arg) c.5411C>G (p.Pro1804Arg) c.5159C>G (p.Pro1720Arg) c.3905C>G (p.Pro1302Arg) | ClinVar dbSNP |
16 | g.2088261C>T | CA394314204 | TSC2 | c.*3544C>T (n.*3544C>T) c.5042C>T (p.Pro1681Leu) c.5192C>T (p.Pro1731Leu) c.*5708C>T (n.*5708C>T) c.*7944C>T (n.*7944C>T) c.5195C>T (p.Pro1732Leu) c.5126C>T (p.Pro1709Leu) c.4994C>T (p.Pro1665Leu) c.5027C>T (p.Pro1676Leu) c.1418C>T n.3077C>T c.3849C>T c.5054C>T (p.Pro1685Leu) n.792C>T c.4997C>T (p.Pro1666Leu) c.5063C>T (p.Pro1688Leu) c.4988C>T (p.Pro1663Leu) n.2843C>T c.5120C>T (p.Pro1707Leu) c.5066C>T (p.Pro1689Leu) c.5081C>T (p.Pro1694Leu) c.4991C>T (p.Pro1664Leu) c.5116C>T n.3279C>T c.5189C>T (p.Pro1730Leu) n.4010C>T n.2447C>T n.2418C>T n.2308C>T c.4850C>T (p.Pro1617Leu) c.*4362C>T (n.*4362C>T) c.4886C>T (p.Pro1629Leu) n.2918C>T c.1377C>T n.2310C>T c.5249C>T (p.Pro1750Leu) c.5246C>T (p.Pro1749Leu) c.5138C>T (p.Pro1713Leu) c.5117C>T (p.Pro1706Leu) c.4463C>T (p.Pro1488Leu) c.5411C>T (p.Pro1804Leu) c.5159C>T (p.Pro1720Leu) c.3905C>T (p.Pro1302Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088263_2088265del | CA2575877453 | TSC2 | c.*3546_*3548del (n.*3546_*3548del) c.5044_5046del (p.Thr1682del) c.5194_5196del (p.Thr1732del) c.*5710_*5712del (n.*5710_*5712del) c.*7946_*7948del (n.*7946_*7948del) c.5197_5199del (p.Thr1733del) c.5128_5130del (p.Thr1710del) c.4996_4998del (p.Thr1666del) c.5029_5031del (p.Thr1677del) c.1420_1422del n.3079_3081del c.3851_3853del c.5056_5058del (p.Thr1686del) n.794_796del c.4999_5001del (p.Thr1667del) c.5065_5067del (p.Thr1689del) c.4990_4992del (p.Thr1664del) n.2845_2847del c.5122_5124del (p.Thr1708del) c.5068_5070del (p.Thr1690del) c.5083_5085del (p.Thr1695del) c.4993_4995del (p.Thr1665del) c.5118_5120del n.3281_3283del c.5191_5193del (p.Thr1731del) n.4012_4014del n.2449_2451del n.2420_2422del n.2310_2312del c.4852_4854del (p.Thr1618del) c.*4364_*4366del (n.*4364_*4366del) c.4888_4890del (p.Thr1630del) n.2920_2922del c.1379_1381del n.2312_2314del c.5251_5253del (p.Thr1751del) c.5248_5250del (p.Thr1750del) c.5140_5142del (p.Thr1714del) c.5119_5121del (p.Thr1707del) c.4465_4467del (p.Thr1489del) c.5413_5415del (p.Thr1805del) c.5161_5163del (p.Thr1721del) c.3907_3909del (p.Thr1303del) | |
16 | g.2088261_2088262insTGCA | CA022105 | TSC2 | c.*3544_*3545insTGCA (n.*3544_*3545insTGCA) c.5042_5043insTGCA (p.Thr1682AlafsTer?) c.5192_5193insTGCA (p.Thr1732AlafsTer?) c.*5708_*5709insTGCA (n.*5708_*5709insTGCA) c.*7944_*7945insTGCA (n.*7944_*7945insTGCA) c.5195_5196insTGCA (p.Thr1733AlafsTer?) c.5126_5127insTGCA (p.Thr1710AlafsTer?) c.4994_4995insTGCA (p.Thr1666AlafsTer?) c.5027_5028insTGCA (p.Thr1677AlafsTer?) c.1418_1419insTGCA n.3077_3078insTGCA c.3849_3850insTGCA c.5054_5055insTGCA (p.Thr1686AlafsTer?) n.792_793insTGCA c.4997_4998insTGCA (p.Thr1667AlafsTer?) c.5063_5064insTGCA (p.Thr1689AlafsTer?) c.4988_4989insTGCA (p.Thr1664AlafsTer?) n.2843_2844insTGCA c.5120_5121insTGCA (p.Thr1708AlafsTer?) c.5066_5067insTGCA (p.Thr1690AlafsTer?) c.5081_5082insTGCA (p.Thr1695AlafsTer?) c.4991_4992insTGCA (p.Thr1665AlafsTer?) c.5116_5117insTGCA n.3279_3280insTGCA c.5189_5190insTGCA (p.Thr1731AlafsTer?) n.4010_4011insTGCA n.2447_2448insTGCA n.2418_2419insTGCA n.2308_2309insTGCA c.4850_4851insTGCA (p.Thr1618AlafsTer?) c.*4362_*4363insTGCA (n.*4362_*4363insTGCA) c.4886_4887insTGCA (p.Thr1630AlafsTer?) n.2918_2919insTGCA c.1377_1378insTGCA n.2310_2311insTGCA c.5249_5250insTGCA (p.Thr1751AlafsTer?) c.5246_5247insTGCA (p.Thr1750AlafsTer?) c.5138_5139insTGCA (p.Thr1714AlafsTer?) c.5117_5118insTGCA (p.Thr1707AlafsTer?) c.4463_4464insTGCA (p.Thr1489AlafsTer?) c.5411_5412insTGCA (p.Thr1805AlafsTer?) c.5159_5160insTGCA (p.Thr1721AlafsTer?) c.3905_3906insTGCA (p.Thr1303AlafsTer?) | ClinVar dbSNP |
16 | g.2088262C>A | CA493043764 | TSC2 | c.*3545C>A (n.*3545C>A) c.5043C>A (p.Pro1681=) c.5193C>A (p.Pro1731=) c.*5709C>A (n.*5709C>A) c.*7945C>A (n.*7945C>A) c.5196C>A (p.Pro1732=) c.5127C>A (p.Pro1709=) c.4995C>A (p.Pro1665=) c.5028C>A (p.Pro1676=) c.1419C>A n.3078C>A c.3850C>A c.5055C>A (p.Pro1685=) n.793C>A c.4998C>A (p.Pro1666=) c.5064C>A (p.Pro1688=) c.4989C>A (p.Pro1663=) n.2844C>A c.5121C>A (p.Pro1707=) c.5067C>A (p.Pro1689=) c.5082C>A (p.Pro1694=) c.4992C>A (p.Pro1664=) c.5117C>A n.3280C>A c.5190C>A (p.Pro1730=) n.4011C>A n.2448C>A n.2419C>A n.2309C>A c.4851C>A (p.Pro1617=) c.*4363C>A (n.*4363C>A) c.4887C>A (p.Pro1629=) n.2919C>A c.1378C>A n.2311C>A c.5250C>A (p.Pro1750=) c.5247C>A (p.Pro1749=) c.5139C>A (p.Pro1713=) c.5118C>A (p.Pro1706=) c.4464C>A (p.Pro1488=) c.5412C>A (p.Pro1804=) c.5160C>A (p.Pro1720=) c.3906C>A (p.Pro1302=) | dbSNP |
16 | g.2088262C= | CA2202031881 | TSC2 | c.*3545C= (n.*3545C=) c.5043C= (p.Pro1681=) c.5193C= (p.Pro1731=) c.*5709C= (n.*5709C=) c.*7945C= (n.*7945C=) c.5196C= (p.Pro1732=) c.5127C= (p.Pro1709=) c.4995C= (p.Pro1665=) c.5028C= (p.Pro1676=) c.1419C= n.3078C= c.3850C= c.5055C= (p.Pro1685=) n.793C= c.4998C= (p.Pro1666=) c.5064C= (p.Pro1688=) c.4989C= (p.Pro1663=) n.2844C= c.5121C= (p.Pro1707=) c.5067C= (p.Pro1689=) c.5082C= (p.Pro1694=) c.4992C= (p.Pro1664=) c.5117C= n.3280C= c.5190C= (p.Pro1730=) n.4011C= n.2448C= n.2419C= n.2309C= c.4851C= (p.Pro1617=) c.*4363C= (n.*4363C=) c.4887C= (p.Pro1629=) n.2919C= c.1378C= n.2311C= c.5250C= (p.Pro1750=) c.5247C= (p.Pro1749=) c.5139C= (p.Pro1713=) c.5118C= (p.Pro1706=) c.4464C= (p.Pro1488=) c.5412C= (p.Pro1804=) c.5160C= (p.Pro1720=) c.3906C= (p.Pro1302=) | |
16 | g.2088262C>G | CA493043768 | TSC2 | c.*3545C>G (n.*3545C>G) c.5043C>G (p.Pro1681=) c.5193C>G (p.Pro1731=) c.*5709C>G (n.*5709C>G) c.*7945C>G (n.*7945C>G) c.5196C>G (p.Pro1732=) c.5127C>G (p.Pro1709=) c.4995C>G (p.Pro1665=) c.5028C>G (p.Pro1676=) c.1419C>G n.3078C>G c.3850C>G c.5055C>G (p.Pro1685=) n.793C>G c.4998C>G (p.Pro1666=) c.5064C>G (p.Pro1688=) c.4989C>G (p.Pro1663=) n.2844C>G c.5121C>G (p.Pro1707=) c.5067C>G (p.Pro1689=) c.5082C>G (p.Pro1694=) c.4992C>G (p.Pro1664=) c.5117C>G n.3280C>G c.5190C>G (p.Pro1730=) n.4011C>G n.2448C>G n.2419C>G n.2309C>G c.4851C>G (p.Pro1617=) c.*4363C>G (n.*4363C>G) c.4887C>G (p.Pro1629=) n.2919C>G c.1378C>G n.2311C>G c.5250C>G (p.Pro1750=) c.5247C>G (p.Pro1749=) c.5139C>G (p.Pro1713=) c.5118C>G (p.Pro1706=) c.4464C>G (p.Pro1488=) c.5412C>G (p.Pro1804=) c.5160C>G (p.Pro1720=) c.3906C>G (p.Pro1302=) | dbSNP |
16 | g.2088262C>T | CA276759343 | TSC2 | c.*3545C>T (n.*3545C>T) c.5043C>T (p.Pro1681=) c.5193C>T (p.Pro1731=) c.*5709C>T (n.*5709C>T) c.*7945C>T (n.*7945C>T) c.5196C>T (p.Pro1732=) c.5127C>T (p.Pro1709=) c.4995C>T (p.Pro1665=) c.5028C>T (p.Pro1676=) c.1419C>T n.3078C>T c.3850C>T c.5055C>T (p.Pro1685=) n.793C>T c.4998C>T (p.Pro1666=) c.5064C>T (p.Pro1688=) c.4989C>T (p.Pro1663=) n.2844C>T c.5121C>T (p.Pro1707=) c.5067C>T (p.Pro1689=) c.5082C>T (p.Pro1694=) c.4992C>T (p.Pro1664=) c.5117C>T n.3280C>T c.5190C>T (p.Pro1730=) n.4011C>T n.2448C>T n.2419C>T n.2309C>T c.4851C>T (p.Pro1617=) c.*4363C>T (n.*4363C>T) c.4887C>T (p.Pro1629=) n.2919C>T c.1378C>T n.2311C>T c.5250C>T (p.Pro1750=) c.5247C>T (p.Pro1749=) c.5139C>T (p.Pro1713=) c.5118C>T (p.Pro1706=) c.4464C>T (p.Pro1488=) c.5412C>T (p.Pro1804=) c.5160C>T (p.Pro1720=) c.3906C>T (p.Pro1302=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088262_2088268delinsCACCGAT | CA2202031884 | TSC2 | c.*3545_*3551delinsCACCGAT (n.*3545_*3551delinsCACCGAT) c.5043_5049delinsCACCGAT (p.Pro1681=) c.5193_5199delinsCACCGAT (p.Pro1731=) c.*5709_*5715delinsCACCGAT (n.*5709_*5715delinsCACCGAT) c.*7945_*7951delinsCACCGAT (n.*7945_*7951delinsCACCGAT) c.5196_5202delinsCACCGAT (p.Pro1732=) c.5127_5133delinsCACCGAT (p.Pro1709=) c.4995_5001delinsCACCGAT (p.Pro1665=) c.5028_5034delinsCACCGAT (p.Pro1676=) c.1419_1425delinsCACCGAT n.3078_3084delinsCACCGAT c.3850_3856delinsCACCGAT c.5055_5061delinsCACCGAT (p.Pro1685=) n.793_799delinsCACCGAT c.4998_5004delinsCACCGAT (p.Pro1666=) c.5064_5070delinsCACCGAT (p.Pro1688=) c.4989_4995delinsCACCGAT (p.Pro1663=) n.2844_2850delinsCACCGAT c.5121_5127delinsCACCGAT (p.Pro1707=) c.5067_5073delinsCACCGAT (p.Pro1689=) c.5082_5088delinsCACCGAT (p.Pro1694=) c.4992_4998delinsCACCGAT (p.Pro1664=) c.5117_5123delinsCACCGAT n.3280_3286delinsCACCGAT c.5190_5196delinsCACCGAT (p.Pro1730=) n.4011_4017delinsCACCGAT n.2448_2454delinsCACCGAT n.2419_2425delinsCACCGAT n.2309_2315delinsCACCGAT c.4851_4857delinsCACCGAT (p.Pro1617=) c.*4363_*4369delinsCACCGAT (n.*4363_*4369delinsCACCGAT) c.4887_4893delinsCACCGAT (p.Pro1629=) n.2919_2925delinsCACCGAT c.1378_1384delinsCACCGAT n.2311_2317delinsCACCGAT c.5250_5256delinsCACCGAT (p.Pro1750=) c.5247_5253delinsCACCGAT (p.Pro1749=) c.5139_5145delinsCACCGAT (p.Pro1713=) c.5118_5124delinsCACCGAT (p.Pro1706=) c.4464_4470delinsCACCGAT (p.Pro1488=) c.5412_5418delinsCACCGAT (p.Pro1804=) c.5160_5166delinsCACCGAT (p.Pro1720=) c.3906_3912delinsCACCGAT (p.Pro1302=) | |
16 | g.2088262_2088278delinsCACCGATATCTACCCCT | CA2202031879 | TSC2 | c.*3545_*3561delinsCACCGATATCTACCCCT (n.*3545_*3561delinsCACCGATATCTACCCCT) c.5043_5059delinsCACCGATATCTACCCCT (p.Pro1681=) c.5193_5209delinsCACCGATATCTACCCCT (p.Pro1731=) c.*5709_*5725delinsCACCGATATCTACCCCT (n.*5709_*5725delinsCACCGATATCTACCCCT) c.*7945_*7961delinsCACCGATATCTACCCCT (n.*7945_*7961delinsCACCGATATCTACCCCT) c.5196_5212delinsCACCGATATCTACCCCT (p.Pro1732=) c.5127_5143delinsCACCGATATCTACCCCT (p.Pro1709=) c.4995_5011delinsCACCGATATCTACCCCT (p.Pro1665=) c.5028_5044delinsCACCGATATCTACCCCT (p.Pro1676=) c.1419_1435delinsCACCGATATCTACCCCT n.3078_3094delinsCACCGATATCTACCCCT c.3850_3866delinsCACCGATATCTACCCCT c.5055_5071delinsCACCGATATCTACCCCT (p.Pro1685=) n.793_809delinsCACCGATATCTACCCCT c.4998_5014delinsCACCGATATCTACCCCT (p.Pro1666=) c.5064_5080delinsCACCGATATCTACCCCT (p.Pro1688=) c.4989_5005delinsCACCGATATCTACCCCT (p.Pro1663=) n.2844_2860delinsCACCGATATCTACCCCT c.5121_5137delinsCACCGATATCTACCCCT (p.Pro1707=) c.5067_5083delinsCACCGATATCTACCCCT (p.Pro1689=) c.5082_5098delinsCACCGATATCTACCCCT (p.Pro1694=) c.4992_5008delinsCACCGATATCTACCCCT (p.Pro1664=) c.5117_5133delinsCACCGATATCTACCCCT n.3280_3296delinsCACCGATATCTACCCCT c.5190_5206delinsCACCGATATCTACCCCT (p.Pro1730=) n.4011_4027delinsCACCGATATCTACCCCT n.2448_2464delinsCACCGATATCTACCCCT n.2419_2435delinsCACCGATATCTACCCCT n.2309_2325delinsCACCGATATCTACCCCT c.4851_4867delinsCACCGATATCTACCCCT (p.Pro1617=) c.*4363_*4379delinsCACCGATATCTACCCCT (n.*4363_*4379delinsCACCGATATCTACCCCT) c.4887_4903delinsCACCGATATCTACCCCT (p.Pro1629=) n.2919_2935delinsCACCGATATCTACCCCT c.1378_1394delinsCACCGATATCTACCCCT n.2311_2327delinsCACCGATATCTACCCCT c.5250_5266delinsCACCGATATCTACCCCT (p.Pro1750=) c.5247_5263delinsCACCGATATCTACCCCT (p.Pro1749=) c.5139_5155delinsCACCGATATCTACCCCT (p.Pro1713=) c.5118_5134delinsCACCGATATCTACCCCT (p.Pro1706=) c.4464_4480delinsCACCGATATCTACCCCT (p.Pro1488=) c.5412_5428delinsCACCGATATCTACCCCT (p.Pro1804=) c.5160_5176delinsCACCGATATCTACCCCT (p.Pro1720=) c.3906_3922delinsCACCGATATCTACCCCT (p.Pro1302=) | |
16 | g.2088263A= | CA2202031901 | TSC2 | c.*3546A= (n.*3546A=) c.5044A= (p.Thr1682=) c.5194A= (p.Thr1732=) c.*5710A= (n.*5710A=) c.*7946A= (n.*7946A=) c.5197A= (p.Thr1733=) c.5128A= (p.Thr1710=) c.4996A= (p.Thr1666=) c.5029A= (p.Thr1677=) c.1420A= n.3079A= c.3851A= c.5056A= (p.Thr1686=) n.794A= c.4999A= (p.Thr1667=) c.5065A= (p.Thr1689=) c.4990A= (p.Thr1664=) n.2845A= c.5122A= (p.Thr1708=) c.5068A= (p.Thr1690=) c.5083A= (p.Thr1695=) c.4993A= (p.Thr1665=) c.5118A= n.3281A= c.5191A= (p.Thr1731=) n.4012A= n.2449A= n.2420A= n.2310A= c.4852A= (p.Thr1618=) c.*4364A= (n.*4364A=) c.4888A= (p.Thr1630=) n.2920A= c.1379A= n.2312A= c.5251A= (p.Thr1751=) c.5248A= (p.Thr1750=) c.5140A= (p.Thr1714=) c.5119A= (p.Thr1707=) c.4465A= (p.Thr1489=) c.5413A= (p.Thr1805=) c.5161A= (p.Thr1721=) c.3907A= (p.Thr1303=) | |
16 | g.2088263A>C | CA394314222 | TSC2 | c.*3546A>C (n.*3546A>C) c.5044A>C (p.Thr1682Pro) c.5194A>C (p.Thr1732Pro) c.*5710A>C (n.*5710A>C) c.*7946A>C (n.*7946A>C) c.5197A>C (p.Thr1733Pro) c.5128A>C (p.Thr1710Pro) c.4996A>C (p.Thr1666Pro) c.5029A>C (p.Thr1677Pro) c.1420A>C n.3079A>C c.3851A>C c.5056A>C (p.Thr1686Pro) n.794A>C c.4999A>C (p.Thr1667Pro) c.5065A>C (p.Thr1689Pro) c.4990A>C (p.Thr1664Pro) n.2845A>C c.5122A>C (p.Thr1708Pro) c.5068A>C (p.Thr1690Pro) c.5083A>C (p.Thr1695Pro) c.4993A>C (p.Thr1665Pro) c.5118A>C n.3281A>C c.5191A>C (p.Thr1731Pro) n.4012A>C n.2449A>C n.2420A>C n.2310A>C c.4852A>C (p.Thr1618Pro) c.*4364A>C (n.*4364A>C) c.4888A>C (p.Thr1630Pro) n.2920A>C c.1379A>C n.2312A>C c.5251A>C (p.Thr1751Pro) c.5248A>C (p.Thr1750Pro) c.5140A>C (p.Thr1714Pro) c.5119A>C (p.Thr1707Pro) c.4465A>C (p.Thr1489Pro) c.5413A>C (p.Thr1805Pro) c.5161A>C (p.Thr1721Pro) c.3907A>C (p.Thr1303Pro) | ClinVar dbSNP |
16 | g.2088263A>G | CA394314229 | TSC2 | c.*3546A>G (n.*3546A>G) c.5044A>G (p.Thr1682Ala) c.5194A>G (p.Thr1732Ala) c.*5710A>G (n.*5710A>G) c.*7946A>G (n.*7946A>G) c.5197A>G (p.Thr1733Ala) c.5128A>G (p.Thr1710Ala) c.4996A>G (p.Thr1666Ala) c.5029A>G (p.Thr1677Ala) c.1420A>G n.3079A>G c.3851A>G c.5056A>G (p.Thr1686Ala) n.794A>G c.4999A>G (p.Thr1667Ala) c.5065A>G (p.Thr1689Ala) c.4990A>G (p.Thr1664Ala) n.2845A>G c.5122A>G (p.Thr1708Ala) c.5068A>G (p.Thr1690Ala) c.5083A>G (p.Thr1695Ala) c.4993A>G (p.Thr1665Ala) c.5118A>G n.3281A>G c.5191A>G (p.Thr1731Ala) n.4012A>G n.2449A>G n.2420A>G n.2310A>G c.4852A>G (p.Thr1618Ala) c.*4364A>G (n.*4364A>G) c.4888A>G (p.Thr1630Ala) n.2920A>G c.1379A>G n.2312A>G c.5251A>G (p.Thr1751Ala) c.5248A>G (p.Thr1750Ala) c.5140A>G (p.Thr1714Ala) c.5119A>G (p.Thr1707Ala) c.4465A>G (p.Thr1489Ala) c.5413A>G (p.Thr1805Ala) c.5161A>G (p.Thr1721Ala) c.3907A>G (p.Thr1303Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.2088263A>T | CA394314230 | TSC2 | c.*3546A>T (n.*3546A>T) c.5044A>T (p.Thr1682Ser) c.5194A>T (p.Thr1732Ser) c.*5710A>T (n.*5710A>T) c.*7946A>T (n.*7946A>T) c.5197A>T (p.Thr1733Ser) c.5128A>T (p.Thr1710Ser) c.4996A>T (p.Thr1666Ser) c.5029A>T (p.Thr1677Ser) c.1420A>T n.3079A>T c.3851A>T c.5056A>T (p.Thr1686Ser) n.794A>T c.4999A>T (p.Thr1667Ser) c.5065A>T (p.Thr1689Ser) c.4990A>T (p.Thr1664Ser) n.2845A>T c.5122A>T (p.Thr1708Ser) c.5068A>T (p.Thr1690Ser) c.5083A>T (p.Thr1695Ser) c.4993A>T (p.Thr1665Ser) c.5118A>T n.3281A>T c.5191A>T (p.Thr1731Ser) n.4012A>T n.2449A>T n.2420A>T n.2310A>T c.4852A>T (p.Thr1618Ser) c.*4364A>T (n.*4364A>T) c.4888A>T (p.Thr1630Ser) n.2920A>T c.1379A>T n.2312A>T c.5251A>T (p.Thr1751Ser) c.5248A>T (p.Thr1750Ser) c.5140A>T (p.Thr1714Ser) c.5119A>T (p.Thr1707Ser) c.4465A>T (p.Thr1489Ser) c.5413A>T (p.Thr1805Ser) c.5161A>T (p.Thr1721Ser) c.3907A>T (p.Thr1303Ser) | dbSNP |
16 | g.2088263dup | CA022111 | TSC2 | c.*3546dup (n.*3546dup) c.5044dup (p.Thr1682AsnfsTer?) c.5194dup (p.Thr1732AsnfsTer?) c.*5710dup (n.*5710dup) c.*7946dup (n.*7946dup) c.5197dup (p.Thr1733AsnfsTer?) c.5128dup (p.Thr1710AsnfsTer?) c.4996dup (p.Thr1666AsnfsTer?) c.5029dup (p.Thr1677AsnfsTer?) c.1420dup n.3079dup c.3851dup c.5056dup (p.Thr1686AsnfsTer?) n.794dup c.4999dup (p.Thr1667AsnfsTer?) c.5065dup (p.Thr1689AsnfsTer?) c.4990dup (p.Thr1664AsnfsTer?) n.2845dup c.5122dup (p.Thr1708AsnfsTer?) c.5068dup (p.Thr1690AsnfsTer?) c.5083dup (p.Thr1695AsnfsTer?) c.4993dup (p.Thr1665AsnfsTer?) c.5118dup n.3281dup c.5191dup (p.Thr1731AsnfsTer?) n.4012dup n.2449dup n.2420dup n.2310dup c.4852dup (p.Thr1618AsnfsTer?) c.*4364dup (n.*4364dup) c.4888dup (p.Thr1630AsnfsTer?) n.2920dup c.1379dup n.2312dup c.5251dup (p.Thr1751AsnfsTer?) c.5248dup (p.Thr1750AsnfsTer?) c.5140dup (p.Thr1714AsnfsTer?) c.5119dup (p.Thr1707AsnfsTer?) c.4465dup (p.Thr1489AsnfsTer?) c.5413dup (p.Thr1805AsnfsTer?) c.5161dup (p.Thr1721AsnfsTer?) c.3907dup (p.Thr1303AsnfsTer?) | ClinVar dbSNP |
16 | g.2088263_2088268delinsGAC | CA16615195 | TSC2 | c.*3546_*3551delinsGAC (n.*3546_*3551delinsGAC) c.5044_5049delinsGAC (p.Thr1682del) c.5194_5199delinsGAC (p.Thr1732del) c.*5710_*5715delinsGAC (n.*5710_*5715delinsGAC) c.*7946_*7951delinsGAC (n.*7946_*7951delinsGAC) c.5197_5202delinsGAC (p.Thr1733del) c.5128_5133delinsGAC (p.Thr1710del) c.4996_5001delinsGAC (p.Thr1666del) c.5029_5034delinsGAC (p.Thr1677del) c.1420_1425delinsGAC n.3079_3084delinsGAC c.3851_3856delinsGAC c.5056_5061delinsGAC (p.Thr1686del) n.794_799delinsGAC c.4999_5004delinsGAC (p.Thr1667del) c.5065_5070delinsGAC (p.Thr1689del) c.4990_4995delinsGAC (p.Thr1664del) n.2845_2850delinsGAC c.5122_5127delinsGAC (p.Thr1708del) c.5068_5073delinsGAC (p.Thr1690del) c.5083_5088delinsGAC (p.Thr1695del) c.4993_4998delinsGAC (p.Thr1665del) c.5118_5123delinsGAC n.3281_3286delinsGAC c.5191_5196delinsGAC (p.Thr1731del) n.4012_4017delinsGAC n.2449_2454delinsGAC n.2420_2425delinsGAC n.2310_2315delinsGAC c.4852_4857delinsGAC (p.Thr1618del) c.*4364_*4369delinsGAC (n.*4364_*4369delinsGAC) c.4888_4893delinsGAC (p.Thr1630del) n.2920_2925delinsGAC c.1379_1384delinsGAC n.2312_2317delinsGAC c.5251_5256delinsGAC (p.Thr1751del) c.5248_5253delinsGAC (p.Thr1750del) c.5140_5145delinsGAC (p.Thr1714del) c.5119_5124delinsGAC (p.Thr1707del) c.4465_4470delinsGAC (p.Thr1489del) c.5413_5418delinsGAC (p.Thr1805del) c.5161_5166delinsGAC (p.Thr1721del) c.3907_3912delinsGAC (p.Thr1303del) | ClinVar dbSNP |
16 | g.2088263_2088278del | CA022116 | TSC2 | c.*3546_*3561del (n.*3546_*3561del) c.5044_5059del (p.Thr1682ProfsTer?) c.5194_5209del (p.Thr1732ProfsTer?) c.*5710_*5725del (n.*5710_*5725del) c.*7946_*7961del (n.*7946_*7961del) c.5197_5212del (p.Thr1733ProfsTer?) c.5128_5143del (p.Thr1710ProfsTer?) c.4996_5011del (p.Thr1666ProfsTer?) c.5029_5044del (p.Thr1677ProfsTer?) c.1420_1435del n.3079_3094del c.3851_3866del c.5056_5071del (p.Thr1686ProfsTer?) n.794_809del c.4999_5014del (p.Thr1667ProfsTer?) c.5065_5080del (p.Thr1689ProfsTer?) c.4990_5005del (p.Thr1664ProfsTer?) n.2845_2860del c.5122_5137del (p.Thr1708ProfsTer?) c.5068_5083del (p.Thr1690ProfsTer?) c.5083_5098del (p.Thr1695ProfsTer?) c.4993_5008del (p.Thr1665ProfsTer?) c.5118_5133del n.3281_3296del c.5191_5206del (p.Thr1731ProfsTer?) n.4012_4027del n.2449_2464del n.2420_2435del n.2310_2325del c.4852_4867del (p.Thr1618ProfsTer?) c.*4364_*4379del (n.*4364_*4379del) c.4888_4903del (p.Thr1630ProfsTer?) n.2920_2935del c.1379_1394del n.2312_2327del c.5251_5266del (p.Thr1751ProfsTer?) c.5248_5263del (p.Thr1750ProfsTer?) c.5140_5155del (p.Thr1714ProfsTer?) c.5119_5134del (p.Thr1707ProfsTer?) c.4465_4480del (p.Thr1489ProfsTer?) c.5413_5428del (p.Thr1805ProfsTer?) c.5161_5176del (p.Thr1721ProfsTer?) c.3907_3922del (p.Thr1303ProfsTer?) | ClinVar dbSNP |
16 | g.2088264C>A | CA394314234 | TSC2 | c.*3547C>A (n.*3547C>A) c.5045C>A (p.Thr1682Asn) c.5195C>A (p.Thr1732Asn) c.*5711C>A (n.*5711C>A) c.*7947C>A (n.*7947C>A) c.5198C>A (p.Thr1733Asn) c.5129C>A (p.Thr1710Asn) c.4997C>A (p.Thr1666Asn) c.5030C>A (p.Thr1677Asn) c.1421C>A n.3080C>A c.3852C>A c.5057C>A (p.Thr1686Asn) n.795C>A c.5000C>A (p.Thr1667Asn) c.5066C>A (p.Thr1689Asn) c.4991C>A (p.Thr1664Asn) n.2846C>A c.5123C>A (p.Thr1708Asn) c.5069C>A (p.Thr1690Asn) c.5084C>A (p.Thr1695Asn) c.4994C>A (p.Thr1665Asn) c.5119C>A n.3282C>A c.5192C>A (p.Thr1731Asn) n.4013C>A n.2450C>A n.2421C>A n.2311C>A c.4853C>A (p.Thr1618Asn) c.*4365C>A (n.*4365C>A) c.4889C>A (p.Thr1630Asn) n.2921C>A c.1380C>A n.2313C>A c.5252C>A (p.Thr1751Asn) c.5249C>A (p.Thr1750Asn) c.5141C>A (p.Thr1714Asn) c.5120C>A (p.Thr1707Asn) c.4466C>A (p.Thr1489Asn) c.5414C>A (p.Thr1805Asn) c.5162C>A (p.Thr1721Asn) c.3908C>A (p.Thr1303Asn) | dbSNP |
16 | g.2088264C= | CA2202031914 | TSC2 | c.*3547C= (n.*3547C=) c.5045C= (p.Thr1682=) c.5195C= (p.Thr1732=) c.*5711C= (n.*5711C=) c.*7947C= (n.*7947C=) c.5198C= (p.Thr1733=) c.5129C= (p.Thr1710=) c.4997C= (p.Thr1666=) c.5030C= (p.Thr1677=) c.1421C= n.3080C= c.3852C= c.5057C= (p.Thr1686=) n.795C= c.5000C= (p.Thr1667=) c.5066C= (p.Thr1689=) c.4991C= (p.Thr1664=) n.2846C= c.5123C= (p.Thr1708=) c.5069C= (p.Thr1690=) c.5084C= (p.Thr1695=) c.4994C= (p.Thr1665=) c.5119C= n.3282C= c.5192C= (p.Thr1731=) n.4013C= n.2450C= n.2421C= n.2311C= c.4853C= (p.Thr1618=) c.*4365C= (n.*4365C=) c.4889C= (p.Thr1630=) n.2921C= c.1380C= n.2313C= c.5252C= (p.Thr1751=) c.5249C= (p.Thr1750=) c.5141C= (p.Thr1714=) c.5120C= (p.Thr1707=) c.4466C= (p.Thr1489=) c.5414C= (p.Thr1805=) c.5162C= (p.Thr1721=) c.3908C= (p.Thr1303=) | |
16 | g.2088264C>G | CA394314244 | TSC2 | c.*3547C>G (n.*3547C>G) c.5045C>G (p.Thr1682Ser) c.5195C>G (p.Thr1732Ser) c.*5711C>G (n.*5711C>G) c.*7947C>G (n.*7947C>G) c.5198C>G (p.Thr1733Ser) c.5129C>G (p.Thr1710Ser) c.4997C>G (p.Thr1666Ser) c.5030C>G (p.Thr1677Ser) c.1421C>G n.3080C>G c.3852C>G c.5057C>G (p.Thr1686Ser) n.795C>G c.5000C>G (p.Thr1667Ser) c.5066C>G (p.Thr1689Ser) c.4991C>G (p.Thr1664Ser) n.2846C>G c.5123C>G (p.Thr1708Ser) c.5069C>G (p.Thr1690Ser) c.5084C>G (p.Thr1695Ser) c.4994C>G (p.Thr1665Ser) c.5119C>G n.3282C>G c.5192C>G (p.Thr1731Ser) n.4013C>G n.2450C>G n.2421C>G n.2311C>G c.4853C>G (p.Thr1618Ser) c.*4365C>G (n.*4365C>G) c.4889C>G (p.Thr1630Ser) n.2921C>G c.1380C>G n.2313C>G c.5252C>G (p.Thr1751Ser) c.5249C>G (p.Thr1750Ser) c.5141C>G (p.Thr1714Ser) c.5120C>G (p.Thr1707Ser) c.4466C>G (p.Thr1489Ser) c.5414C>G (p.Thr1805Ser) c.5162C>G (p.Thr1721Ser) c.3908C>G (p.Thr1303Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088264C>T | CA394314253 | TSC2 | c.*3547C>T (n.*3547C>T) c.5045C>T (p.Thr1682Ile) c.5195C>T (p.Thr1732Ile) c.*5711C>T (n.*5711C>T) c.*7947C>T (n.*7947C>T) c.5198C>T (p.Thr1733Ile) c.5129C>T (p.Thr1710Ile) c.4997C>T (p.Thr1666Ile) c.5030C>T (p.Thr1677Ile) c.1421C>T n.3080C>T c.3852C>T c.5057C>T (p.Thr1686Ile) n.795C>T c.5000C>T (p.Thr1667Ile) c.5066C>T (p.Thr1689Ile) c.4991C>T (p.Thr1664Ile) n.2846C>T c.5123C>T (p.Thr1708Ile) c.5069C>T (p.Thr1690Ile) c.5084C>T (p.Thr1695Ile) c.4994C>T (p.Thr1665Ile) c.5119C>T n.3282C>T c.5192C>T (p.Thr1731Ile) n.4013C>T n.2450C>T n.2421C>T n.2311C>T c.4853C>T (p.Thr1618Ile) c.*4365C>T (n.*4365C>T) c.4889C>T (p.Thr1630Ile) n.2921C>T c.1380C>T n.2313C>T c.5252C>T (p.Thr1751Ile) c.5249C>T (p.Thr1750Ile) c.5141C>T (p.Thr1714Ile) c.5120C>T (p.Thr1707Ile) c.4466C>T (p.Thr1489Ile) c.5414C>T (p.Thr1805Ile) c.5162C>T (p.Thr1721Ile) c.3908C>T (p.Thr1303Ile) | dbSNP |
16 | g.2088265C>A | CA16614834 | TSC2 | c.*3548C>A (n.*3548C>A) c.5046C>A (p.Thr1682=) c.5196C>A (p.Thr1732=) c.*5712C>A (n.*5712C>A) c.*7948C>A (n.*7948C>A) c.5199C>A (p.Thr1733=) c.5130C>A (p.Thr1710=) c.4998C>A (p.Thr1666=) c.5031C>A (p.Thr1677=) c.1422C>A n.3081C>A c.3853C>A c.5058C>A (p.Thr1686=) n.796C>A c.5001C>A (p.Thr1667=) c.5067C>A (p.Thr1689=) c.4992C>A (p.Thr1664=) n.2847C>A c.5124C>A (p.Thr1708=) c.5070C>A (p.Thr1690=) c.5085C>A (p.Thr1695=) c.4995C>A (p.Thr1665=) c.5120C>A n.3283C>A c.5193C>A (p.Thr1731=) n.4014C>A n.2451C>A n.2422C>A n.2312C>A c.4854C>A (p.Thr1618=) c.*4366C>A (n.*4366C>A) c.4890C>A (p.Thr1630=) n.2922C>A c.1381C>A n.2314C>A c.5253C>A (p.Thr1751=) c.5250C>A (p.Thr1750=) c.5142C>A (p.Thr1714=) c.5121C>A (p.Thr1707=) c.4467C>A (p.Thr1489=) c.5415C>A (p.Thr1805=) c.5163C>A (p.Thr1721=) c.3909C>A (p.Thr1303=) | ClinVar dbSNP |
16 | g.2088265C= | CA2202031923 | TSC2 | c.*3548C= (n.*3548C=) c.5046C= (p.Thr1682=) c.5196C= (p.Thr1732=) c.*5712C= (n.*5712C=) c.*7948C= (n.*7948C=) c.5199C= (p.Thr1733=) c.5130C= (p.Thr1710=) c.4998C= (p.Thr1666=) c.5031C= (p.Thr1677=) c.1422C= n.3081C= c.3853C= c.5058C= (p.Thr1686=) n.796C= c.5001C= (p.Thr1667=) c.5067C= (p.Thr1689=) c.4992C= (p.Thr1664=) n.2847C= c.5124C= (p.Thr1708=) c.5070C= (p.Thr1690=) c.5085C= (p.Thr1695=) c.4995C= (p.Thr1665=) c.5120C= n.3283C= c.5193C= (p.Thr1731=) n.4014C= n.2451C= n.2422C= n.2312C= c.4854C= (p.Thr1618=) c.*4366C= (n.*4366C=) c.4890C= (p.Thr1630=) n.2922C= c.1381C= n.2314C= c.5253C= (p.Thr1751=) c.5250C= (p.Thr1750=) c.5142C= (p.Thr1714=) c.5121C= (p.Thr1707=) c.4467C= (p.Thr1489=) c.5415C= (p.Thr1805=) c.5163C= (p.Thr1721=) c.3909C= (p.Thr1303=) | |
16 | g.2088265C>G | CA493043773 | TSC2 | c.*3548C>G (n.*3548C>G) c.5046C>G (p.Thr1682=) c.5196C>G (p.Thr1732=) c.*5712C>G (n.*5712C>G) c.*7948C>G (n.*7948C>G) c.5199C>G (p.Thr1733=) c.5130C>G (p.Thr1710=) c.4998C>G (p.Thr1666=) c.5031C>G (p.Thr1677=) c.1422C>G n.3081C>G c.3853C>G c.5058C>G (p.Thr1686=) n.796C>G c.5001C>G (p.Thr1667=) c.5067C>G (p.Thr1689=) c.4992C>G (p.Thr1664=) n.2847C>G c.5124C>G (p.Thr1708=) c.5070C>G (p.Thr1690=) c.5085C>G (p.Thr1695=) c.4995C>G (p.Thr1665=) c.5120C>G n.3283C>G c.5193C>G (p.Thr1731=) n.4014C>G n.2451C>G n.2422C>G n.2312C>G c.4854C>G (p.Thr1618=) c.*4366C>G (n.*4366C>G) c.4890C>G (p.Thr1630=) n.2922C>G c.1381C>G n.2314C>G c.5253C>G (p.Thr1751=) c.5250C>G (p.Thr1750=) c.5142C>G (p.Thr1714=) c.5121C>G (p.Thr1707=) c.4467C>G (p.Thr1489=) c.5415C>G (p.Thr1805=) c.5163C>G (p.Thr1721=) c.3909C>G (p.Thr1303=) | ClinVar dbSNP |
16 | g.2088265C>T | CA054385 | TSC2 | c.*3548C>T (n.*3548C>T) c.5046C>T (p.Thr1682=) c.5196C>T (p.Thr1732=) c.*5712C>T (n.*5712C>T) c.*7948C>T (n.*7948C>T) c.5199C>T (p.Thr1733=) c.5130C>T (p.Thr1710=) c.4998C>T (p.Thr1666=) c.5031C>T (p.Thr1677=) c.1422C>T n.3081C>T c.3853C>T c.5058C>T (p.Thr1686=) n.796C>T c.5001C>T (p.Thr1667=) c.5067C>T (p.Thr1689=) c.4992C>T (p.Thr1664=) n.2847C>T c.5124C>T (p.Thr1708=) c.5070C>T (p.Thr1690=) c.5085C>T (p.Thr1695=) c.4995C>T (p.Thr1665=) c.5120C>T n.3283C>T c.5193C>T (p.Thr1731=) n.4014C>T n.2451C>T n.2422C>T n.2312C>T c.4854C>T (p.Thr1618=) c.*4366C>T (n.*4366C>T) c.4890C>T (p.Thr1630=) n.2922C>T c.1381C>T n.2314C>T c.5253C>T (p.Thr1751=) c.5250C>T (p.Thr1750=) c.5142C>T (p.Thr1714=) c.5121C>T (p.Thr1707=) c.4467C>T (p.Thr1489=) c.5415C>T (p.Thr1805=) c.5163C>T (p.Thr1721=) c.3909C>T (p.Thr1303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088266G>A | CA054398 | TSC2 | c.*3549G>A (n.*3549G>A) c.5047G>A (p.Asp1683Asn) c.5197G>A (p.Asp1733Asn) c.*5713G>A (n.*5713G>A) c.*7949G>A (n.*7949G>A) c.5200G>A (p.Asp1734Asn) c.5131G>A (p.Asp1711Asn) c.4999G>A (p.Asp1667Asn) c.5032G>A (p.Asp1678Asn) c.1423G>A n.3082G>A c.3854G>A c.5059G>A (p.Asp1687Asn) n.797G>A c.5002G>A (p.Asp1668Asn) c.5068G>A (p.Asp1690Asn) c.4993G>A (p.Asp1665Asn) n.2848G>A c.5125G>A (p.Asp1709Asn) c.5071G>A (p.Asp1691Asn) c.5086G>A (p.Asp1696Asn) c.4996G>A (p.Asp1666Asn) c.5121G>A n.3284G>A c.5194G>A (p.Asp1732Asn) n.4015G>A n.2452G>A n.2423G>A n.2313G>A c.4855G>A (p.Asp1619Asn) c.*4367G>A (n.*4367G>A) c.4891G>A (p.Asp1631Asn) n.2923G>A c.1382G>A n.2315G>A c.5254G>A (p.Asp1752Asn) c.5251G>A (p.Asp1751Asn) c.5143G>A (p.Asp1715Asn) c.5122G>A (p.Asp1708Asn) c.4468G>A (p.Asp1490Asn) c.5416G>A (p.Asp1806Asn) c.5164G>A (p.Asp1722Asn) c.3910G>A (p.Asp1304Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088266G>C | CA394314257 | TSC2 | c.*3549G>C (n.*3549G>C) c.5047G>C (p.Asp1683His) c.5197G>C (p.Asp1733His) c.*5713G>C (n.*5713G>C) c.*7949G>C (n.*7949G>C) c.5200G>C (p.Asp1734His) c.5131G>C (p.Asp1711His) c.4999G>C (p.Asp1667His) c.5032G>C (p.Asp1678His) c.1423G>C n.3082G>C c.3854G>C c.5059G>C (p.Asp1687His) n.797G>C c.5002G>C (p.Asp1668His) c.5068G>C (p.Asp1690His) c.4993G>C (p.Asp1665His) n.2848G>C c.5125G>C (p.Asp1709His) c.5071G>C (p.Asp1691His) c.5086G>C (p.Asp1696His) c.4996G>C (p.Asp1666His) c.5121G>C n.3284G>C c.5194G>C (p.Asp1732His) n.4015G>C n.2452G>C n.2423G>C n.2313G>C c.4855G>C (p.Asp1619His) c.*4367G>C (n.*4367G>C) c.4891G>C (p.Asp1631His) n.2923G>C c.1382G>C n.2315G>C c.5254G>C (p.Asp1752His) c.5251G>C (p.Asp1751His) c.5143G>C (p.Asp1715His) c.5122G>C (p.Asp1708His) c.4468G>C (p.Asp1490His) c.5416G>C (p.Asp1806His) c.5164G>C (p.Asp1722His) c.3910G>C (p.Asp1304His) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088266G= | CA2202031937 | TSC2 | c.*3549G= (n.*3549G=) c.5047G= (p.Asp1683=) c.5197G= (p.Asp1733=) c.*5713G= (n.*5713G=) c.*7949G= (n.*7949G=) c.5200G= (p.Asp1734=) c.5131G= (p.Asp1711=) c.4999G= (p.Asp1667=) c.5032G= (p.Asp1678=) c.1423G= n.3082G= c.3854G= c.5059G= (p.Asp1687=) n.797G= c.5002G= (p.Asp1668=) c.5068G= (p.Asp1690=) c.4993G= (p.Asp1665=) n.2848G= c.5125G= (p.Asp1709=) c.5071G= (p.Asp1691=) c.5086G= (p.Asp1696=) c.4996G= (p.Asp1666=) c.5121G= n.3284G= c.5194G= (p.Asp1732=) n.4015G= n.2452G= n.2423G= n.2313G= c.4855G= (p.Asp1619=) c.*4367G= (n.*4367G=) c.4891G= (p.Asp1631=) n.2923G= c.1382G= n.2315G= c.5254G= (p.Asp1752=) c.5251G= (p.Asp1751=) c.5143G= (p.Asp1715=) c.5122G= (p.Asp1708=) c.4468G= (p.Asp1490=) c.5416G= (p.Asp1806=) c.5164G= (p.Asp1722=) c.3910G= (p.Asp1304=) | |
16 | g.2088266G>T | CA394314254 | TSC2 | c.*3549G>T (n.*3549G>T) c.5047G>T (p.Asp1683Tyr) c.5197G>T (p.Asp1733Tyr) c.*5713G>T (n.*5713G>T) c.*7949G>T (n.*7949G>T) c.5200G>T (p.Asp1734Tyr) c.5131G>T (p.Asp1711Tyr) c.4999G>T (p.Asp1667Tyr) c.5032G>T (p.Asp1678Tyr) c.1423G>T n.3082G>T c.3854G>T c.5059G>T (p.Asp1687Tyr) n.797G>T c.5002G>T (p.Asp1668Tyr) c.5068G>T (p.Asp1690Tyr) c.4993G>T (p.Asp1665Tyr) n.2848G>T c.5125G>T (p.Asp1709Tyr) c.5071G>T (p.Asp1691Tyr) c.5086G>T (p.Asp1696Tyr) c.4996G>T (p.Asp1666Tyr) c.5121G>T n.3284G>T c.5194G>T (p.Asp1732Tyr) n.4015G>T n.2452G>T n.2423G>T n.2313G>T c.4855G>T (p.Asp1619Tyr) c.*4367G>T (n.*4367G>T) c.4891G>T (p.Asp1631Tyr) n.2923G>T c.1382G>T n.2315G>T c.5254G>T (p.Asp1752Tyr) c.5251G>T (p.Asp1751Tyr) c.5143G>T (p.Asp1715Tyr) c.5122G>T (p.Asp1708Tyr) c.4468G>T (p.Asp1490Tyr) c.5416G>T (p.Asp1806Tyr) c.5164G>T (p.Asp1722Tyr) c.3910G>T (p.Asp1304Tyr) | dbSNP |
16 | g.2088266_2088268delinsAAC | CA915946265 | TSC2 | c.*3549_*3551delinsAAC (n.*3549_*3551delinsAAC) c.5047_5049delinsAAC (p.Asp1683Asn) c.5197_5199delinsAAC (p.Asp1733Asn) c.*5713_*5715delinsAAC (n.*5713_*5715delinsAAC) c.*7949_*7951delinsAAC (n.*7949_*7951delinsAAC) c.5200_5202delinsAAC (p.Asp1734Asn) c.5131_5133delinsAAC (p.Asp1711Asn) c.4999_5001delinsAAC (p.Asp1667Asn) c.5032_5034delinsAAC (p.Asp1678Asn) c.1423_1425delinsAAC n.3082_3084delinsAAC c.3854_3856delinsAAC c.5059_5061delinsAAC (p.Asp1687Asn) n.797_799delinsAAC c.5002_5004delinsAAC (p.Asp1668Asn) c.5068_5070delinsAAC (p.Asp1690Asn) c.4993_4995delinsAAC (p.Asp1665Asn) n.2848_2850delinsAAC c.5125_5127delinsAAC (p.Asp1709Asn) c.5071_5073delinsAAC (p.Asp1691Asn) c.5086_5088delinsAAC (p.Asp1696Asn) c.4996_4998delinsAAC (p.Asp1666Asn) c.5121_5123delinsAAC n.3284_3286delinsAAC c.5194_5196delinsAAC (p.Asp1732Asn) n.4015_4017delinsAAC n.2452_2454delinsAAC n.2423_2425delinsAAC n.2313_2315delinsAAC c.4855_4857delinsAAC (p.Asp1619Asn) c.*4367_*4369delinsAAC (n.*4367_*4369delinsAAC) c.4891_4893delinsAAC (p.Asp1631Asn) n.2923_2925delinsAAC c.1382_1384delinsAAC n.2315_2317delinsAAC c.5254_5256delinsAAC (p.Asp1752Asn) c.5251_5253delinsAAC (p.Asp1751Asn) c.5143_5145delinsAAC (p.Asp1715Asn) c.5122_5124delinsAAC (p.Asp1708Asn) c.4468_4470delinsAAC (p.Asp1490Asn) c.5416_5418delinsAAC (p.Asp1806Asn) c.5164_5166delinsAAC (p.Asp1722Asn) c.3910_3912delinsAAC (p.Asp1304Asn) | ClinVar dbSNP |
16 | g.2088266_2088268delinsGAT | CA2202031942 | TSC2 | c.*3549_*3551delinsGAT (n.*3549_*3551delinsGAT) c.5047_5049delinsGAT (p.Asp1683=) c.5197_5199delinsGAT (p.Asp1733=) c.*5713_*5715delinsGAT (n.*5713_*5715delinsGAT) c.*7949_*7951delinsGAT (n.*7949_*7951delinsGAT) c.5200_5202delinsGAT (p.Asp1734=) c.5131_5133delinsGAT (p.Asp1711=) c.4999_5001delinsGAT (p.Asp1667=) c.5032_5034delinsGAT (p.Asp1678=) c.1423_1425delinsGAT n.3082_3084delinsGAT c.3854_3856delinsGAT c.5059_5061delinsGAT (p.Asp1687=) n.797_799delinsGAT c.5002_5004delinsGAT (p.Asp1668=) c.5068_5070delinsGAT (p.Asp1690=) c.4993_4995delinsGAT (p.Asp1665=) n.2848_2850delinsGAT c.5125_5127delinsGAT (p.Asp1709=) c.5071_5073delinsGAT (p.Asp1691=) c.5086_5088delinsGAT (p.Asp1696=) c.4996_4998delinsGAT (p.Asp1666=) c.5121_5123delinsGAT n.3284_3286delinsGAT c.5194_5196delinsGAT (p.Asp1732=) n.4015_4017delinsGAT n.2452_2454delinsGAT n.2423_2425delinsGAT n.2313_2315delinsGAT c.4855_4857delinsGAT (p.Asp1619=) c.*4367_*4369delinsGAT (n.*4367_*4369delinsGAT) c.4891_4893delinsGAT (p.Asp1631=) n.2923_2925delinsGAT c.1382_1384delinsGAT n.2315_2317delinsGAT c.5254_5256delinsGAT (p.Asp1752=) c.5251_5253delinsGAT (p.Asp1751=) c.5143_5145delinsGAT (p.Asp1715=) c.5122_5124delinsGAT (p.Asp1708=) c.4468_4470delinsGAT (p.Asp1490=) c.5416_5418delinsGAT (p.Asp1806=) c.5164_5166delinsGAT (p.Asp1722=) c.3910_3912delinsGAT (p.Asp1304=) | |
16 | g.2088267A= | CA2202031948 | TSC2 | c.*3550A= (n.*3550A=) c.5048A= (p.Asp1683=) c.5198A= (p.Asp1733=) c.*5714A= (n.*5714A=) c.*7950A= (n.*7950A=) c.5201A= (p.Asp1734=) c.5132A= (p.Asp1711=) c.5000A= (p.Asp1667=) c.5033A= (p.Asp1678=) c.1424A= n.3083A= c.3855A= c.5060A= (p.Asp1687=) n.798A= c.5003A= (p.Asp1668=) c.5069A= (p.Asp1690=) c.4994A= (p.Asp1665=) n.2849A= c.5126A= (p.Asp1709=) c.5072A= (p.Asp1691=) c.5087A= (p.Asp1696=) c.4997A= (p.Asp1666=) c.5122A= n.3285A= c.5195A= (p.Asp1732=) n.4016A= n.2453A= n.2424A= n.2314A= c.4856A= (p.Asp1619=) c.*4368A= (n.*4368A=) c.4892A= (p.Asp1631=) n.2924A= c.1383A= n.2316A= c.5255A= (p.Asp1752=) c.5252A= (p.Asp1751=) c.5144A= (p.Asp1715=) c.5123A= (p.Asp1708=) c.4469A= (p.Asp1490=) c.5417A= (p.Asp1806=) c.5165A= (p.Asp1722=) c.3911A= (p.Asp1304=) | |
16 | g.2088267A>C | CA394314276 | TSC2 | c.*3550A>C (n.*3550A>C) c.5048A>C (p.Asp1683Ala) c.5198A>C (p.Asp1733Ala) c.*5714A>C (n.*5714A>C) c.*7950A>C (n.*7950A>C) c.5201A>C (p.Asp1734Ala) c.5132A>C (p.Asp1711Ala) c.5000A>C (p.Asp1667Ala) c.5033A>C (p.Asp1678Ala) c.1424A>C n.3083A>C c.3855A>C c.5060A>C (p.Asp1687Ala) n.798A>C c.5003A>C (p.Asp1668Ala) c.5069A>C (p.Asp1690Ala) c.4994A>C (p.Asp1665Ala) n.2849A>C c.5126A>C (p.Asp1709Ala) c.5072A>C (p.Asp1691Ala) c.5087A>C (p.Asp1696Ala) c.4997A>C (p.Asp1666Ala) c.5122A>C n.3285A>C c.5195A>C (p.Asp1732Ala) n.4016A>C n.2453A>C n.2424A>C n.2314A>C c.4856A>C (p.Asp1619Ala) c.*4368A>C (n.*4368A>C) c.4892A>C (p.Asp1631Ala) n.2924A>C c.1383A>C n.2316A>C c.5255A>C (p.Asp1752Ala) c.5252A>C (p.Asp1751Ala) c.5144A>C (p.Asp1715Ala) c.5123A>C (p.Asp1708Ala) c.4469A>C (p.Asp1490Ala) c.5417A>C (p.Asp1806Ala) c.5165A>C (p.Asp1722Ala) c.3911A>C (p.Asp1304Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.2088267A>G | CA16614798 | TSC2 | c.*3550A>G (n.*3550A>G) c.5048A>G (p.Asp1683Gly) c.5198A>G (p.Asp1733Gly) c.*5714A>G (n.*5714A>G) c.*7950A>G (n.*7950A>G) c.5201A>G (p.Asp1734Gly) c.5132A>G (p.Asp1711Gly) c.5000A>G (p.Asp1667Gly) c.5033A>G (p.Asp1678Gly) c.1424A>G n.3083A>G c.3855A>G c.5060A>G (p.Asp1687Gly) n.798A>G c.5003A>G (p.Asp1668Gly) c.5069A>G (p.Asp1690Gly) c.4994A>G (p.Asp1665Gly) n.2849A>G c.5126A>G (p.Asp1709Gly) c.5072A>G (p.Asp1691Gly) c.5087A>G (p.Asp1696Gly) c.4997A>G (p.Asp1666Gly) c.5122A>G n.3285A>G c.5195A>G (p.Asp1732Gly) n.4016A>G n.2453A>G n.2424A>G n.2314A>G c.4856A>G (p.Asp1619Gly) c.*4368A>G (n.*4368A>G) c.4892A>G (p.Asp1631Gly) n.2924A>G c.1383A>G n.2316A>G c.5255A>G (p.Asp1752Gly) c.5252A>G (p.Asp1751Gly) c.5144A>G (p.Asp1715Gly) c.5123A>G (p.Asp1708Gly) c.4469A>G (p.Asp1490Gly) c.5417A>G (p.Asp1806Gly) c.5165A>G (p.Asp1722Gly) c.3911A>G (p.Asp1304Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088267A>T | CA10583344 | TSC2 | c.*3550A>T (n.*3550A>T) c.5048A>T (p.Asp1683Val) c.5198A>T (p.Asp1733Val) c.*5714A>T (n.*5714A>T) c.*7950A>T (n.*7950A>T) c.5201A>T (p.Asp1734Val) c.5132A>T (p.Asp1711Val) c.5000A>T (p.Asp1667Val) c.5033A>T (p.Asp1678Val) c.1424A>T n.3083A>T c.3855A>T c.5060A>T (p.Asp1687Val) n.798A>T c.5003A>T (p.Asp1668Val) c.5069A>T (p.Asp1690Val) c.4994A>T (p.Asp1665Val) n.2849A>T c.5126A>T (p.Asp1709Val) c.5072A>T (p.Asp1691Val) c.5087A>T (p.Asp1696Val) c.4997A>T (p.Asp1666Val) c.5122A>T n.3285A>T c.5195A>T (p.Asp1732Val) n.4016A>T n.2453A>T n.2424A>T n.2314A>T c.4856A>T (p.Asp1619Val) c.*4368A>T (n.*4368A>T) c.4892A>T (p.Asp1631Val) n.2924A>T c.1383A>T n.2316A>T c.5255A>T (p.Asp1752Val) c.5252A>T (p.Asp1751Val) c.5144A>T (p.Asp1715Val) c.5123A>T (p.Asp1708Val) c.4469A>T (p.Asp1490Val) c.5417A>T (p.Asp1806Val) c.5165A>T (p.Asp1722Val) c.3911A>T (p.Asp1304Val) | ClinVar dbSNP gnomAD v4 |
16 | g.2088267_2088268insCA | CA2631118547 | TSC2 | c.*3550_*3551insCA (n.*3550_*3551insCA) c.5048_5049insCA (p.Tyr1685SerfsTer?) c.5198_5199insCA (p.Tyr1735SerfsTer?) c.*5714_*5715insCA (n.*5714_*5715insCA) c.*7950_*7951insCA (n.*7950_*7951insCA) c.5201_5202insCA (p.Tyr1736SerfsTer?) c.5132_5133insCA (p.Tyr1713SerfsTer?) c.5000_5001insCA (p.Tyr1669SerfsTer?) c.5033_5034insCA (p.Tyr1680SerfsTer?) c.1424_1425insCA n.3083_3084insCA c.3855_3856insCA c.5060_5061insCA (p.Tyr1689SerfsTer?) n.798_799insCA c.5003_5004insCA (p.Tyr1670SerfsTer?) c.5069_5070insCA (p.Tyr1692SerfsTer?) c.4994_4995insCA (p.Tyr1667SerfsTer?) n.2849_2850insCA c.5126_5127insCA (p.Tyr1711SerfsTer?) c.5072_5073insCA (p.Tyr1693SerfsTer?) c.5087_5088insCA (p.Tyr1698SerfsTer?) c.4997_4998insCA (p.Tyr1668SerfsTer?) c.5122_5123insCA n.3285_3286insCA c.5195_5196insCA (p.Tyr1734SerfsTer?) n.4016_4017insCA n.2453_2454insCA n.2424_2425insCA n.2314_2315insCA c.4856_4857insCA (p.Tyr1621SerfsTer?) c.*4368_*4369insCA (n.*4368_*4369insCA) c.4892_4893insCA (p.Tyr1633SerfsTer?) n.2924_2925insCA c.1383_1384insCA n.2316_2317insCA c.5255_5256insCA (p.Tyr1754SerfsTer?) c.5252_5253insCA (p.Tyr1753SerfsTer?) c.5144_5145insCA (p.Tyr1717SerfsTer?) c.5123_5124insCA (p.Tyr1710SerfsTer?) c.4469_4470insCA (p.Tyr1492SerfsTer?) c.5417_5418insCA (p.Tyr1808SerfsTer?) c.5165_5166insCA (p.Tyr1724SerfsTer?) c.3911_3912insCA (p.Tyr1306SerfsTer?) | gnomAD v4 |
16 | g.2088268T>A | CA022125 | TSC2 | c.*3551T>A (n.*3551T>A) c.5049T>A (p.Asp1683Glu) c.5199T>A (p.Asp1733Glu) c.*5715T>A (n.*5715T>A) c.*7951T>A (n.*7951T>A) c.5202T>A (p.Asp1734Glu) c.5133T>A (p.Asp1711Glu) c.5001T>A (p.Asp1667Glu) c.5034T>A (p.Asp1678Glu) c.1425T>A n.3084T>A c.3856T>A c.5061T>A (p.Asp1687Glu) n.799T>A c.5004T>A (p.Asp1668Glu) c.5070T>A (p.Asp1690Glu) c.4995T>A (p.Asp1665Glu) n.2850T>A c.5127T>A (p.Asp1709Glu) c.5073T>A (p.Asp1691Glu) c.5088T>A (p.Asp1696Glu) c.4998T>A (p.Asp1666Glu) c.5123T>A n.3286T>A c.5196T>A (p.Asp1732Glu) n.4017T>A n.2454T>A n.2425T>A n.2315T>A c.4857T>A (p.Asp1619Glu) c.*4369T>A (n.*4369T>A) c.4893T>A (p.Asp1631Glu) n.2925T>A c.1384T>A n.2317T>A c.5256T>A (p.Asp1752Glu) c.5253T>A (p.Asp1751Glu) c.5145T>A (p.Asp1715Glu) c.5124T>A (p.Asp1708Glu) c.4470T>A (p.Asp1490Glu) c.5418T>A (p.Asp1806Glu) c.5166T>A (p.Asp1722Glu) c.3912T>A (p.Asp1304Glu) | ClinVar dbSNP |
16 | g.2088268T>C | CA022131 | TSC2 | c.*3551T>C (n.*3551T>C) c.5049T>C (p.Asp1683=) c.5199T>C (p.Asp1733=) c.*5715T>C (n.*5715T>C) c.*7951T>C (n.*7951T>C) c.5202T>C (p.Asp1734=) c.5133T>C (p.Asp1711=) c.5001T>C (p.Asp1667=) c.5034T>C (p.Asp1678=) c.1425T>C n.3084T>C c.3856T>C c.5061T>C (p.Asp1687=) n.799T>C c.5004T>C (p.Asp1668=) c.5070T>C (p.Asp1690=) c.4995T>C (p.Asp1665=) n.2850T>C c.5127T>C (p.Asp1709=) c.5073T>C (p.Asp1691=) c.5088T>C (p.Asp1696=) c.4998T>C (p.Asp1666=) c.5123T>C n.3286T>C c.5196T>C (p.Asp1732=) n.4017T>C n.2454T>C n.2425T>C n.2315T>C c.4857T>C (p.Asp1619=) c.*4369T>C (n.*4369T>C) c.4893T>C (p.Asp1631=) n.2925T>C c.1384T>C n.2317T>C c.5256T>C (p.Asp1752=) c.5253T>C (p.Asp1751=) c.5145T>C (p.Asp1715=) c.5124T>C (p.Asp1708=) c.4470T>C (p.Asp1490=) c.5418T>C (p.Asp1806=) c.5166T>C (p.Asp1722=) c.3912T>C (p.Asp1304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088268T>G | CA276759437 | TSC2 | c.*3551T>G (n.*3551T>G) c.5049T>G (p.Asp1683Glu) c.5199T>G (p.Asp1733Glu) c.*5715T>G (n.*5715T>G) c.*7951T>G (n.*7951T>G) c.5202T>G (p.Asp1734Glu) c.5133T>G (p.Asp1711Glu) c.5001T>G (p.Asp1667Glu) c.5034T>G (p.Asp1678Glu) c.1425T>G n.3084T>G c.3856T>G c.5061T>G (p.Asp1687Glu) n.799T>G c.5004T>G (p.Asp1668Glu) c.5070T>G (p.Asp1690Glu) c.4995T>G (p.Asp1665Glu) n.2850T>G c.5127T>G (p.Asp1709Glu) c.5073T>G (p.Asp1691Glu) c.5088T>G (p.Asp1696Glu) c.4998T>G (p.Asp1666Glu) c.5123T>G n.3286T>G c.5196T>G (p.Asp1732Glu) n.4017T>G n.2454T>G n.2425T>G n.2315T>G c.4857T>G (p.Asp1619Glu) c.*4369T>G (n.*4369T>G) c.4893T>G (p.Asp1631Glu) n.2925T>G c.1384T>G n.2317T>G c.5256T>G (p.Asp1752Glu) c.5253T>G (p.Asp1751Glu) c.5145T>G (p.Asp1715Glu) c.5124T>G (p.Asp1708Glu) c.4470T>G (p.Asp1490Glu) c.5418T>G (p.Asp1806Glu) c.5166T>G (p.Asp1722Glu) c.3912T>G (p.Asp1304Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088268T= | CA2202031964 | TSC2 | c.*3551T= (n.*3551T=) c.5049T= (p.Asp1683=) c.5199T= (p.Asp1733=) c.*5715T= (n.*5715T=) c.*7951T= (n.*7951T=) c.5202T= (p.Asp1734=) c.5133T= (p.Asp1711=) c.5001T= (p.Asp1667=) c.5034T= (p.Asp1678=) c.1425T= n.3084T= c.3856T= c.5061T= (p.Asp1687=) n.799T= c.5004T= (p.Asp1668=) c.5070T= (p.Asp1690=) c.4995T= (p.Asp1665=) n.2850T= c.5127T= (p.Asp1709=) c.5073T= (p.Asp1691=) c.5088T= (p.Asp1696=) c.4998T= (p.Asp1666=) c.5123T= n.3286T= c.5196T= (p.Asp1732=) n.4017T= n.2454T= n.2425T= n.2315T= c.4857T= (p.Asp1619=) c.*4369T= (n.*4369T=) c.4893T= (p.Asp1631=) n.2925T= c.1384T= n.2317T= c.5256T= (p.Asp1752=) c.5253T= (p.Asp1751=) c.5145T= (p.Asp1715=) c.5124T= (p.Asp1708=) c.4470T= (p.Asp1490=) c.5418T= (p.Asp1806=) c.5166T= (p.Asp1722=) c.3912T= (p.Asp1304=) | |
16 | g.2088268delinsCC | CA2731829118 | TSC2 | c.*3551delinsCC (n.*3551delinsCC) c.5049delinsCC (p.Ile1684HisfsTer?) c.5199delinsCC (p.Ile1734HisfsTer?) c.*5715delinsCC (n.*5715delinsCC) c.*7951delinsCC (n.*7951delinsCC) c.5202delinsCC (p.Ile1735HisfsTer?) c.5133delinsCC (p.Ile1712HisfsTer?) c.5001delinsCC (p.Ile1668HisfsTer?) c.5034delinsCC (p.Ile1679HisfsTer?) c.1425delinsCC n.3084delinsCC c.3856delinsCC c.5061delinsCC (p.Ile1688HisfsTer?) n.799delinsCC c.5004delinsCC (p.Ile1669HisfsTer?) c.5070delinsCC (p.Ile1691HisfsTer?) c.4995delinsCC (p.Ile1666HisfsTer?) n.2850delinsCC c.5127delinsCC (p.Ile1710HisfsTer?) c.5073delinsCC (p.Ile1692HisfsTer?) c.5088delinsCC (p.Ile1697HisfsTer?) c.4998delinsCC (p.Ile1667HisfsTer?) c.5123delinsCC n.3286delinsCC c.5196delinsCC (p.Ile1733HisfsTer?) n.4017delinsCC n.2454delinsCC n.2425delinsCC n.2315delinsCC c.4857delinsCC (p.Ile1620HisfsTer?) c.*4369delinsCC (n.*4369delinsCC) c.4893delinsCC (p.Ile1632HisfsTer?) n.2925delinsCC c.1384delinsCC n.2317delinsCC c.5256delinsCC (p.Ile1753HisfsTer?) c.5253delinsCC (p.Ile1752HisfsTer?) c.5145delinsCC (p.Ile1716HisfsTer?) c.5124delinsCC (p.Ile1709HisfsTer?) c.4470delinsCC (p.Ile1491HisfsTer?) c.5418delinsCC (p.Ile1807HisfsTer?) c.5166delinsCC (p.Ile1723HisfsTer?) c.3912delinsCC (p.Ile1305HisfsTer?) | dbSNP |
16 | g.2088268_2088269delinsCG | CA2739269936 | TSC2 | c.*3551_*3552delinsCG (n.*3551_*3552delinsCG) c.5049_5050delinsCG (p.Ile1684Val) c.5199_5200delinsCG (p.Ile1734Val) c.*5715_*5716delinsCG (n.*5715_*5716delinsCG) c.*7951_*7952delinsCG (n.*7951_*7952delinsCG) c.5202_5203delinsCG (p.Ile1735Val) c.5133_5134delinsCG (p.Ile1712Val) c.5001_5002delinsCG (p.Ile1668Val) c.5034_5035delinsCG (p.Ile1679Val) c.1425_1426delinsCG n.3084_3085delinsCG c.3856_3857delinsCG c.5061_5062delinsCG (p.Ile1688Val) n.799_800delinsCG c.5004_5005delinsCG (p.Ile1669Val) c.5070_5071delinsCG (p.Ile1691Val) c.4995_4996delinsCG (p.Ile1666Val) n.2850_2851delinsCG c.5127_5128delinsCG (p.Ile1710Val) c.5073_5074delinsCG (p.Ile1692Val) c.5088_5089delinsCG (p.Ile1697Val) c.4998_4999delinsCG (p.Ile1667Val) c.5123_5124delinsCG n.3286_3287delinsCG c.5196_5197delinsCG (p.Ile1733Val) n.4017_4018delinsCG n.2454_2455delinsCG n.2425_2426delinsCG n.2315_2316delinsCG c.4857_4858delinsCG (p.Ile1620Val) c.*4369_*4370delinsCG (n.*4369_*4370delinsCG) c.4893_4894delinsCG (p.Ile1632Val) n.2925_2926delinsCG c.1384_1385delinsCG n.2317_2318delinsCG c.5256_5257delinsCG (p.Ile1753Val) c.5253_5254delinsCG (p.Ile1752Val) c.5145_5146delinsCG (p.Ile1716Val) c.5124_5125delinsCG (p.Ile1709Val) c.4470_4471delinsCG (p.Ile1491Val) c.5418_5419delinsCG (p.Ile1807Val) c.5166_5167delinsCG (p.Ile1723Val) c.3912_3913delinsCG (p.Ile1305Val) | ClinVar |
16 | g.2088270_2088273dup | CA022142 | TSC2 | c.*3553_*3556dup (n.*3553_*3556dup) c.5051_5054dup (p.Pro1686LeufsTer?) c.5201_5204dup (p.Pro1736LeufsTer?) c.*5717_*5720dup (n.*5717_*5720dup) c.*7953_*7956dup (n.*7953_*7956dup) c.5204_5207dup (p.Pro1737LeufsTer?) c.5135_5138dup (p.Pro1714LeufsTer?) c.5003_5006dup (p.Pro1670LeufsTer?) c.5036_5039dup (p.Pro1681LeufsTer?) c.1427_1430dup n.3086_3089dup c.3858_3861dup c.5063_5066dup (p.Pro1690LeufsTer?) n.801_804dup c.5006_5009dup (p.Pro1671LeufsTer?) c.5072_5075dup (p.Pro1693LeufsTer?) c.4997_5000dup (p.Pro1668LeufsTer?) n.2852_2855dup c.5129_5132dup (p.Pro1712LeufsTer?) c.5075_5078dup (p.Pro1694LeufsTer?) c.5090_5093dup (p.Pro1699LeufsTer?) c.5000_5003dup (p.Pro1669LeufsTer?) c.5125_5128dup n.3288_3291dup c.5198_5201dup (p.Pro1735LeufsTer?) n.4019_4022dup n.2456_2459dup n.2427_2430dup n.2317_2320dup c.4859_4862dup (p.Pro1622LeufsTer?) c.*4371_*4374dup (n.*4371_*4374dup) c.4895_4898dup (p.Pro1634LeufsTer?) n.2927_2930dup c.1386_1389dup n.2319_2322dup c.5258_5261dup (p.Pro1755LeufsTer?) c.5255_5258dup (p.Pro1754LeufsTer?) c.5147_5150dup (p.Pro1718LeufsTer?) c.5126_5129dup (p.Pro1711LeufsTer?) c.4472_4475dup (p.Pro1493LeufsTer?) c.5420_5423dup (p.Pro1809LeufsTer?) c.5168_5171dup (p.Pro1725LeufsTer?) c.3914_3917dup (p.Pro1307LeufsTer?) | ClinVar dbSNP |
16 | g.2088270_2088273del | CA2739269935 | TSC2 | c.*3553_*3556del (n.*3553_*3556del) c.5051_5054del (p.Ile1684ThrfsTer?) c.5201_5204del (p.Ile1734ThrfsTer?) c.*5717_*5720del (n.*5717_*5720del) c.*7953_*7956del (n.*7953_*7956del) c.5204_5207del (p.Ile1735ThrfsTer?) c.5135_5138del (p.Ile1712ThrfsTer?) c.5003_5006del (p.Ile1668ThrfsTer?) c.5036_5039del (p.Ile1679ThrfsTer?) c.1427_1430del n.3086_3089del c.3858_3861del c.5063_5066del (p.Ile1688ThrfsTer?) n.801_804del c.5006_5009del (p.Ile1669ThrfsTer?) c.5072_5075del (p.Ile1691ThrfsTer?) c.4997_5000del (p.Ile1666ThrfsTer?) n.2852_2855del c.5129_5132del (p.Ile1710ThrfsTer?) c.5075_5078del (p.Ile1692ThrfsTer?) c.5090_5093del (p.Ile1697ThrfsTer?) c.5000_5003del (p.Ile1667ThrfsTer?) c.5125_5128del n.3288_3291del c.5198_5201del (p.Ile1733ThrfsTer?) n.4019_4022del n.2456_2459del n.2427_2430del n.2317_2320del c.4859_4862del (p.Ile1620ThrfsTer?) c.*4371_*4374del (n.*4371_*4374del) c.4895_4898del (p.Ile1632ThrfsTer?) n.2927_2930del c.1386_1389del n.2319_2322del c.5258_5261del (p.Ile1753ThrfsTer?) c.5255_5258del (p.Ile1752ThrfsTer?) c.5147_5150del (p.Ile1716ThrfsTer?) c.5126_5129del (p.Ile1709ThrfsTer?) c.4472_4475del (p.Ile1491ThrfsTer?) c.5420_5423del (p.Ile1807ThrfsTer?) c.5168_5171del (p.Ile1723ThrfsTer?) c.3914_3917del (p.Ile1305ThrfsTer?) | ClinVar |
16 | g.2088268_2088269insC | CA2631118554 | TSC2 | c.*3551_*3552insC (n.*3551_*3552insC) c.5049_5050insC (p.Ile1684HisfsTer?) c.5199_5200insC (p.Ile1734HisfsTer?) c.*5715_*5716insC (n.*5715_*5716insC) c.*7951_*7952insC (n.*7951_*7952insC) c.5202_5203insC (p.Ile1735HisfsTer?) c.5133_5134insC (p.Ile1712HisfsTer?) c.5001_5002insC (p.Ile1668HisfsTer?) c.5034_5035insC (p.Ile1679HisfsTer?) c.1425_1426insC n.3084_3085insC c.3856_3857insC c.5061_5062insC (p.Ile1688HisfsTer?) n.799_800insC c.5004_5005insC (p.Ile1669HisfsTer?) c.5070_5071insC (p.Ile1691HisfsTer?) c.4995_4996insC (p.Ile1666HisfsTer?) n.2850_2851insC c.5127_5128insC (p.Ile1710HisfsTer?) c.5073_5074insC (p.Ile1692HisfsTer?) c.5088_5089insC (p.Ile1697HisfsTer?) c.4998_4999insC (p.Ile1667HisfsTer?) c.5123_5124insC n.3286_3287insC c.5196_5197insC (p.Ile1733HisfsTer?) n.4017_4018insC n.2454_2455insC n.2425_2426insC n.2315_2316insC c.4857_4858insC (p.Ile1620HisfsTer?) c.*4369_*4370insC (n.*4369_*4370insC) c.4893_4894insC (p.Ile1632HisfsTer?) n.2925_2926insC c.1384_1385insC n.2317_2318insC c.5256_5257insC (p.Ile1753HisfsTer?) c.5253_5254insC (p.Ile1752HisfsTer?) c.5145_5146insC (p.Ile1716HisfsTer?) c.5124_5125insC (p.Ile1709HisfsTer?) c.4470_4471insC (p.Ile1491HisfsTer?) c.5418_5419insC (p.Ile1807HisfsTer?) c.5166_5167insC (p.Ile1723HisfsTer?) c.3912_3913insC (p.Ile1305HisfsTer?) | gnomAD v4 |
16 | g.2088269A= | CA2202031983 | TSC2 | c.*3552A= (n.*3552A=) c.5050A= (p.Ile1684=) c.5200A= (p.Ile1734=) c.*5716A= (n.*5716A=) c.*7952A= (n.*7952A=) c.5203A= (p.Ile1735=) c.5134A= (p.Ile1712=) c.5002A= (p.Ile1668=) c.5035A= (p.Ile1679=) c.1426A= n.3085A= c.3857A= c.5062A= (p.Ile1688=) n.800A= c.5005A= (p.Ile1669=) c.5071A= (p.Ile1691=) c.4996A= (p.Ile1666=) n.2851A= c.5128A= (p.Ile1710=) c.5074A= (p.Ile1692=) c.5089A= (p.Ile1697=) c.4999A= (p.Ile1667=) c.5124A= n.3287A= c.5197A= (p.Ile1733=) n.4018A= n.2455A= n.2426A= n.2316A= c.4858A= (p.Ile1620=) c.*4370A= (n.*4370A=) c.4894A= (p.Ile1632=) n.2926A= c.1385A= n.2318A= c.5257A= (p.Ile1753=) c.5254A= (p.Ile1752=) c.5146A= (p.Ile1716=) c.5125A= (p.Ile1709=) c.4471A= (p.Ile1491=) c.5419A= (p.Ile1807=) c.5167A= (p.Ile1723=) c.3913A= (p.Ile1305=) | |
16 | g.2088269A>C | CA394314289 | TSC2 | c.*3552A>C (n.*3552A>C) c.5050A>C (p.Ile1684Leu) c.5200A>C (p.Ile1734Leu) c.*5716A>C (n.*5716A>C) c.*7952A>C (n.*7952A>C) c.5203A>C (p.Ile1735Leu) c.5134A>C (p.Ile1712Leu) c.5002A>C (p.Ile1668Leu) c.5035A>C (p.Ile1679Leu) c.1426A>C n.3085A>C c.3857A>C c.5062A>C (p.Ile1688Leu) n.800A>C c.5005A>C (p.Ile1669Leu) c.5071A>C (p.Ile1691Leu) c.4996A>C (p.Ile1666Leu) n.2851A>C c.5128A>C (p.Ile1710Leu) c.5074A>C (p.Ile1692Leu) c.5089A>C (p.Ile1697Leu) c.4999A>C (p.Ile1667Leu) c.5124A>C n.3287A>C c.5197A>C (p.Ile1733Leu) n.4018A>C n.2455A>C n.2426A>C n.2316A>C c.4858A>C (p.Ile1620Leu) c.*4370A>C (n.*4370A>C) c.4894A>C (p.Ile1632Leu) n.2926A>C c.1385A>C n.2318A>C c.5257A>C (p.Ile1753Leu) c.5254A>C (p.Ile1752Leu) c.5146A>C (p.Ile1716Leu) c.5125A>C (p.Ile1709Leu) c.4471A>C (p.Ile1491Leu) c.5419A>C (p.Ile1807Leu) c.5167A>C (p.Ile1723Leu) c.3913A>C (p.Ile1305Leu) | dbSNP |
16 | g.2088269A>G | CA054409 | TSC2 | c.*3552A>G (n.*3552A>G) c.5050A>G (p.Ile1684Val) c.5200A>G (p.Ile1734Val) c.*5716A>G (n.*5716A>G) c.*7952A>G (n.*7952A>G) c.5203A>G (p.Ile1735Val) c.5134A>G (p.Ile1712Val) c.5002A>G (p.Ile1668Val) c.5035A>G (p.Ile1679Val) c.1426A>G n.3085A>G c.3857A>G c.5062A>G (p.Ile1688Val) n.800A>G c.5005A>G (p.Ile1669Val) c.5071A>G (p.Ile1691Val) c.4996A>G (p.Ile1666Val) n.2851A>G c.5128A>G (p.Ile1710Val) c.5074A>G (p.Ile1692Val) c.5089A>G (p.Ile1697Val) c.4999A>G (p.Ile1667Val) c.5124A>G n.3287A>G c.5197A>G (p.Ile1733Val) n.4018A>G n.2455A>G n.2426A>G n.2316A>G c.4858A>G (p.Ile1620Val) c.*4370A>G (n.*4370A>G) c.4894A>G (p.Ile1632Val) n.2926A>G c.1385A>G n.2318A>G c.5257A>G (p.Ile1753Val) c.5254A>G (p.Ile1752Val) c.5146A>G (p.Ile1716Val) c.5125A>G (p.Ile1709Val) c.4471A>G (p.Ile1491Val) c.5419A>G (p.Ile1807Val) c.5167A>G (p.Ile1723Val) c.3913A>G (p.Ile1305Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088269A>T | CA394314290 | TSC2 | c.*3552A>T (n.*3552A>T) c.5050A>T (p.Ile1684Phe) c.5200A>T (p.Ile1734Phe) c.*5716A>T (n.*5716A>T) c.*7952A>T (n.*7952A>T) c.5203A>T (p.Ile1735Phe) c.5134A>T (p.Ile1712Phe) c.5002A>T (p.Ile1668Phe) c.5035A>T (p.Ile1679Phe) c.1426A>T n.3085A>T c.3857A>T c.5062A>T (p.Ile1688Phe) n.800A>T c.5005A>T (p.Ile1669Phe) c.5071A>T (p.Ile1691Phe) c.4996A>T (p.Ile1666Phe) n.2851A>T c.5128A>T (p.Ile1710Phe) c.5074A>T (p.Ile1692Phe) c.5089A>T (p.Ile1697Phe) c.4999A>T (p.Ile1667Phe) c.5124A>T n.3287A>T c.5197A>T (p.Ile1733Phe) n.4018A>T n.2455A>T n.2426A>T n.2316A>T c.4858A>T (p.Ile1620Phe) c.*4370A>T (n.*4370A>T) c.4894A>T (p.Ile1632Phe) n.2926A>T c.1385A>T n.2318A>T c.5257A>T (p.Ile1753Phe) c.5254A>T (p.Ile1752Phe) c.5146A>T (p.Ile1716Phe) c.5125A>T (p.Ile1709Phe) c.4471A>T (p.Ile1491Phe) c.5419A>T (p.Ile1807Phe) c.5167A>T (p.Ile1723Phe) c.3913A>T (p.Ile1305Phe) | dbSNP |
16 | g.2088269dup | CA10603258 | TSC2 | c.*3552dup (n.*3552dup) c.5050dup (p.Ile1684AsnfsTer?) c.5200dup (p.Ile1734AsnfsTer?) c.*5716dup (n.*5716dup) c.*7952dup (n.*7952dup) c.5203dup (p.Ile1735AsnfsTer?) c.5134dup (p.Ile1712AsnfsTer?) c.5002dup (p.Ile1668AsnfsTer?) c.5035dup (p.Ile1679AsnfsTer?) c.1426dup n.3085dup c.3857dup c.5062dup (p.Ile1688AsnfsTer?) n.800dup c.5005dup (p.Ile1669AsnfsTer?) c.5071dup (p.Ile1691AsnfsTer?) c.4996dup (p.Ile1666AsnfsTer?) n.2851dup c.5128dup (p.Ile1710AsnfsTer?) c.5074dup (p.Ile1692AsnfsTer?) c.5089dup (p.Ile1697AsnfsTer?) c.4999dup (p.Ile1667AsnfsTer?) c.5124dup n.3287dup c.5197dup (p.Ile1733AsnfsTer?) n.4018dup n.2455dup n.2426dup n.2316dup c.4858dup (p.Ile1620AsnfsTer?) c.*4370dup (n.*4370dup) c.4894dup (p.Ile1632AsnfsTer?) n.2926dup c.1385dup n.2318dup c.5257dup (p.Ile1753AsnfsTer?) c.5254dup (p.Ile1752AsnfsTer?) c.5146dup (p.Ile1716AsnfsTer?) c.5125dup (p.Ile1709AsnfsTer?) c.4471dup (p.Ile1491AsnfsTer?) c.5419dup (p.Ile1807AsnfsTer?) c.5167dup (p.Ile1723AsnfsTer?) c.3913dup (p.Ile1305AsnfsTer?) | ClinVar dbSNP |
16 | g.2088270T>A | CA394314293 | TSC2 | c.*3553T>A (n.*3553T>A) c.5051T>A (p.Ile1684Asn) c.5201T>A (p.Ile1734Asn) c.*5717T>A (n.*5717T>A) c.*7953T>A (n.*7953T>A) c.5204T>A (p.Ile1735Asn) c.5135T>A (p.Ile1712Asn) c.5003T>A (p.Ile1668Asn) c.5036T>A (p.Ile1679Asn) c.1427T>A n.3086T>A c.3858T>A c.5063T>A (p.Ile1688Asn) n.801T>A c.5006T>A (p.Ile1669Asn) c.5072T>A (p.Ile1691Asn) c.4997T>A (p.Ile1666Asn) n.2852T>A c.5129T>A (p.Ile1710Asn) c.5075T>A (p.Ile1692Asn) c.5090T>A (p.Ile1697Asn) c.5000T>A (p.Ile1667Asn) c.5125T>A n.3288T>A c.5198T>A (p.Ile1733Asn) n.4019T>A n.2456T>A n.2427T>A n.2317T>A c.4859T>A (p.Ile1620Asn) c.*4371T>A (n.*4371T>A) c.4895T>A (p.Ile1632Asn) n.2927T>A c.1386T>A n.2319T>A c.5258T>A (p.Ile1753Asn) c.5255T>A (p.Ile1752Asn) c.5147T>A (p.Ile1716Asn) c.5126T>A (p.Ile1709Asn) c.4472T>A (p.Ile1491Asn) c.5420T>A (p.Ile1807Asn) c.5168T>A (p.Ile1723Asn) c.3914T>A (p.Ile1305Asn) | dbSNP |
16 | g.2088270T>C | CA276759442 | TSC2 | c.*3553T>C (n.*3553T>C) c.5051T>C (p.Ile1684Thr) c.5201T>C (p.Ile1734Thr) c.*5717T>C (n.*5717T>C) c.*7953T>C (n.*7953T>C) c.5204T>C (p.Ile1735Thr) c.5135T>C (p.Ile1712Thr) c.5003T>C (p.Ile1668Thr) c.5036T>C (p.Ile1679Thr) c.1427T>C n.3086T>C c.3858T>C c.5063T>C (p.Ile1688Thr) n.801T>C c.5006T>C (p.Ile1669Thr) c.5072T>C (p.Ile1691Thr) c.4997T>C (p.Ile1666Thr) n.2852T>C c.5129T>C (p.Ile1710Thr) c.5075T>C (p.Ile1692Thr) c.5090T>C (p.Ile1697Thr) c.5000T>C (p.Ile1667Thr) c.5125T>C n.3288T>C c.5198T>C (p.Ile1733Thr) n.4019T>C n.2456T>C n.2427T>C n.2317T>C c.4859T>C (p.Ile1620Thr) c.*4371T>C (n.*4371T>C) c.4895T>C (p.Ile1632Thr) n.2927T>C c.1386T>C n.2319T>C c.5258T>C (p.Ile1753Thr) c.5255T>C (p.Ile1752Thr) c.5147T>C (p.Ile1716Thr) c.5126T>C (p.Ile1709Thr) c.4472T>C (p.Ile1491Thr) c.5420T>C (p.Ile1807Thr) c.5168T>C (p.Ile1723Thr) c.3914T>C (p.Ile1305Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088270T>G | CA022137 | TSC2 | c.*3553T>G (n.*3553T>G) c.5051T>G (p.Ile1684Ser) c.5201T>G (p.Ile1734Ser) c.*5717T>G (n.*5717T>G) c.*7953T>G (n.*7953T>G) c.5204T>G (p.Ile1735Ser) c.5135T>G (p.Ile1712Ser) c.5003T>G (p.Ile1668Ser) c.5036T>G (p.Ile1679Ser) c.1427T>G n.3086T>G c.3858T>G c.5063T>G (p.Ile1688Ser) n.801T>G c.5006T>G (p.Ile1669Ser) c.5072T>G (p.Ile1691Ser) c.4997T>G (p.Ile1666Ser) n.2852T>G c.5129T>G (p.Ile1710Ser) c.5075T>G (p.Ile1692Ser) c.5090T>G (p.Ile1697Ser) c.5000T>G (p.Ile1667Ser) c.5125T>G n.3288T>G c.5198T>G (p.Ile1733Ser) n.4019T>G n.2456T>G n.2427T>G n.2317T>G c.4859T>G (p.Ile1620Ser) c.*4371T>G (n.*4371T>G) c.4895T>G (p.Ile1632Ser) n.2927T>G c.1386T>G n.2319T>G c.5258T>G (p.Ile1753Ser) c.5255T>G (p.Ile1752Ser) c.5147T>G (p.Ile1716Ser) c.5126T>G (p.Ile1709Ser) c.4472T>G (p.Ile1491Ser) c.5420T>G (p.Ile1807Ser) c.5168T>G (p.Ile1723Ser) c.3914T>G (p.Ile1305Ser) | ClinVar dbSNP |
16 | g.2088270T= | CA2202032003 | TSC2 | c.*3553T= (n.*3553T=) c.5051T= (p.Ile1684=) c.5201T= (p.Ile1734=) c.*5717T= (n.*5717T=) c.*7953T= (n.*7953T=) c.5204T= (p.Ile1735=) c.5135T= (p.Ile1712=) c.5003T= (p.Ile1668=) c.5036T= (p.Ile1679=) c.1427T= n.3086T= c.3858T= c.5063T= (p.Ile1688=) n.801T= c.5006T= (p.Ile1669=) c.5072T= (p.Ile1691=) c.4997T= (p.Ile1666=) n.2852T= c.5129T= (p.Ile1710=) c.5075T= (p.Ile1692=) c.5090T= (p.Ile1697=) c.5000T= (p.Ile1667=) c.5125T= n.3288T= c.5198T= (p.Ile1733=) n.4019T= n.2456T= n.2427T= n.2317T= c.4859T= (p.Ile1620=) c.*4371T= (n.*4371T=) c.4895T= (p.Ile1632=) n.2927T= c.1386T= n.2319T= c.5258T= (p.Ile1753=) c.5255T= (p.Ile1752=) c.5147T= (p.Ile1716=) c.5126T= (p.Ile1709=) c.4472T= (p.Ile1491=) c.5420T= (p.Ile1807=) c.5168T= (p.Ile1723=) c.3914T= (p.Ile1305=) | |
16 | g.2088271C>A | CA493043779 | TSC2 | c.*3554C>A (n.*3554C>A) c.5052C>A (p.Ile1684=) c.5202C>A (p.Ile1734=) c.*5718C>A (n.*5718C>A) c.*7954C>A (n.*7954C>A) c.5205C>A (p.Ile1735=) c.5136C>A (p.Ile1712=) c.5004C>A (p.Ile1668=) c.5037C>A (p.Ile1679=) c.1428C>A n.3087C>A c.3859C>A c.5064C>A (p.Ile1688=) n.802C>A c.5007C>A (p.Ile1669=) c.5073C>A (p.Ile1691=) c.4998C>A (p.Ile1666=) n.2853C>A c.5130C>A (p.Ile1710=) c.5076C>A (p.Ile1692=) c.5091C>A (p.Ile1697=) c.5001C>A (p.Ile1667=) c.5126C>A n.3289C>A c.5199C>A (p.Ile1733=) n.4020C>A n.2457C>A n.2428C>A n.2318C>A c.4860C>A (p.Ile1620=) c.*4372C>A (n.*4372C>A) c.4896C>A (p.Ile1632=) n.2928C>A c.1387C>A n.2320C>A c.5259C>A (p.Ile1753=) c.5256C>A (p.Ile1752=) c.5148C>A (p.Ile1716=) c.5127C>A (p.Ile1709=) c.4473C>A (p.Ile1491=) c.5421C>A (p.Ile1807=) c.5169C>A (p.Ile1723=) c.3915C>A (p.Ile1305=) | |
16 | g.2088271C= | CA2202032010 | TSC2 | c.*3554C= (n.*3554C=) c.5052C= (p.Ile1684=) c.5202C= (p.Ile1734=) c.*5718C= (n.*5718C=) c.*7954C= (n.*7954C=) c.5205C= (p.Ile1735=) c.5136C= (p.Ile1712=) c.5004C= (p.Ile1668=) c.5037C= (p.Ile1679=) c.1428C= n.3087C= c.3859C= c.5064C= (p.Ile1688=) n.802C= c.5007C= (p.Ile1669=) c.5073C= (p.Ile1691=) c.4998C= (p.Ile1666=) n.2853C= c.5130C= (p.Ile1710=) c.5076C= (p.Ile1692=) c.5091C= (p.Ile1697=) c.5001C= (p.Ile1667=) c.5126C= n.3289C= c.5199C= (p.Ile1733=) n.4020C= n.2457C= n.2428C= n.2318C= c.4860C= (p.Ile1620=) c.*4372C= (n.*4372C=) c.4896C= (p.Ile1632=) n.2928C= c.1387C= n.2320C= c.5259C= (p.Ile1753=) c.5256C= (p.Ile1752=) c.5148C= (p.Ile1716=) c.5127C= (p.Ile1709=) c.4473C= (p.Ile1491=) c.5421C= (p.Ile1807=) c.5169C= (p.Ile1723=) c.3915C= (p.Ile1305=) | |
16 | g.2088271C>G | CA394314300 | TSC2 | c.*3554C>G (n.*3554C>G) c.5052C>G (p.Ile1684Met) c.5202C>G (p.Ile1734Met) c.*5718C>G (n.*5718C>G) c.*7954C>G (n.*7954C>G) c.5205C>G (p.Ile1735Met) c.5136C>G (p.Ile1712Met) c.5004C>G (p.Ile1668Met) c.5037C>G (p.Ile1679Met) c.1428C>G n.3087C>G c.3859C>G c.5064C>G (p.Ile1688Met) n.802C>G c.5007C>G (p.Ile1669Met) c.5073C>G (p.Ile1691Met) c.4998C>G (p.Ile1666Met) n.2853C>G c.5130C>G (p.Ile1710Met) c.5076C>G (p.Ile1692Met) c.5091C>G (p.Ile1697Met) c.5001C>G (p.Ile1667Met) c.5126C>G n.3289C>G c.5199C>G (p.Ile1733Met) n.4020C>G n.2457C>G n.2428C>G n.2318C>G c.4860C>G (p.Ile1620Met) c.*4372C>G (n.*4372C>G) c.4896C>G (p.Ile1632Met) n.2928C>G c.1387C>G n.2320C>G c.5259C>G (p.Ile1753Met) c.5256C>G (p.Ile1752Met) c.5148C>G (p.Ile1716Met) c.5127C>G (p.Ile1709Met) c.4473C>G (p.Ile1491Met) c.5421C>G (p.Ile1807Met) c.5169C>G (p.Ile1723Met) c.3915C>G (p.Ile1305Met) | dbSNP |
16 | g.2088271C>T | CA493043780 | TSC2 | c.*3554C>T (n.*3554C>T) c.5052C>T (p.Ile1684=) c.5202C>T (p.Ile1734=) c.*5718C>T (n.*5718C>T) c.*7954C>T (n.*7954C>T) c.5205C>T (p.Ile1735=) c.5136C>T (p.Ile1712=) c.5004C>T (p.Ile1668=) c.5037C>T (p.Ile1679=) c.1428C>T n.3087C>T c.3859C>T c.5064C>T (p.Ile1688=) n.802C>T c.5007C>T (p.Ile1669=) c.5073C>T (p.Ile1691=) c.4998C>T (p.Ile1666=) n.2853C>T c.5130C>T (p.Ile1710=) c.5076C>T (p.Ile1692=) c.5091C>T (p.Ile1697=) c.5001C>T (p.Ile1667=) c.5126C>T n.3289C>T c.5199C>T (p.Ile1733=) n.4020C>T n.2457C>T n.2428C>T n.2318C>T c.4860C>T (p.Ile1620=) c.*4372C>T (n.*4372C>T) c.4896C>T (p.Ile1632=) n.2928C>T c.1387C>T n.2320C>T c.5259C>T (p.Ile1753=) c.5256C>T (p.Ile1752=) c.5148C>T (p.Ile1716=) c.5127C>T (p.Ile1709=) c.4473C>T (p.Ile1491=) c.5421C>T (p.Ile1807=) c.5169C>T (p.Ile1723=) c.3915C>T (p.Ile1305=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088272T>A | CA394314301 | TSC2 | c.*3555T>A (n.*3555T>A) c.5053T>A (p.Tyr1685Asn) c.5203T>A (p.Tyr1735Asn) c.*5719T>A (n.*5719T>A) c.*7955T>A (n.*7955T>A) c.5206T>A (p.Tyr1736Asn) c.5137T>A (p.Tyr1713Asn) c.5005T>A (p.Tyr1669Asn) c.5038T>A (p.Tyr1680Asn) c.1429T>A n.3088T>A c.3860T>A c.5065T>A (p.Tyr1689Asn) n.803T>A c.5008T>A (p.Tyr1670Asn) c.5074T>A (p.Tyr1692Asn) c.4999T>A (p.Tyr1667Asn) n.2854T>A c.5131T>A (p.Tyr1711Asn) c.5077T>A (p.Tyr1693Asn) c.5092T>A (p.Tyr1698Asn) c.5002T>A (p.Tyr1668Asn) c.5127T>A n.3290T>A c.5200T>A (p.Tyr1734Asn) n.4021T>A n.2458T>A n.2429T>A n.2319T>A c.4861T>A (p.Tyr1621Asn) c.*4373T>A (n.*4373T>A) c.4897T>A (p.Tyr1633Asn) n.2929T>A c.1388T>A n.2321T>A c.5260T>A (p.Tyr1754Asn) c.5257T>A (p.Tyr1753Asn) c.5149T>A (p.Tyr1717Asn) c.5128T>A (p.Tyr1710Asn) c.4474T>A (p.Tyr1492Asn) c.5422T>A (p.Tyr1808Asn) c.5170T>A (p.Tyr1724Asn) c.3916T>A (p.Tyr1306Asn) | dbSNP |
16 | g.2088272T>C | CA394314305 | TSC2 | c.*3555T>C (n.*3555T>C) c.5053T>C (p.Tyr1685His) c.5203T>C (p.Tyr1735His) c.*5719T>C (n.*5719T>C) c.*7955T>C (n.*7955T>C) c.5206T>C (p.Tyr1736His) c.5137T>C (p.Tyr1713His) c.5005T>C (p.Tyr1669His) c.5038T>C (p.Tyr1680His) c.1429T>C n.3088T>C c.3860T>C c.5065T>C (p.Tyr1689His) n.803T>C c.5008T>C (p.Tyr1670His) c.5074T>C (p.Tyr1692His) c.4999T>C (p.Tyr1667His) n.2854T>C c.5131T>C (p.Tyr1711His) c.5077T>C (p.Tyr1693His) c.5092T>C (p.Tyr1698His) c.5002T>C (p.Tyr1668His) c.5127T>C n.3290T>C c.5200T>C (p.Tyr1734His) n.4021T>C n.2458T>C n.2429T>C n.2319T>C c.4861T>C (p.Tyr1621His) c.*4373T>C (n.*4373T>C) c.4897T>C (p.Tyr1633His) n.2929T>C c.1388T>C n.2321T>C c.5260T>C (p.Tyr1754His) c.5257T>C (p.Tyr1753His) c.5149T>C (p.Tyr1717His) c.5128T>C (p.Tyr1710His) c.4474T>C (p.Tyr1492His) c.5422T>C (p.Tyr1808His) c.5170T>C (p.Tyr1724His) c.3916T>C (p.Tyr1306His) | dbSNP |
16 | g.2088272T>G | CA394314302 | TSC2 | c.*3555T>G (n.*3555T>G) c.5053T>G (p.Tyr1685Asp) c.5203T>G (p.Tyr1735Asp) c.*5719T>G (n.*5719T>G) c.*7955T>G (n.*7955T>G) c.5206T>G (p.Tyr1736Asp) c.5137T>G (p.Tyr1713Asp) c.5005T>G (p.Tyr1669Asp) c.5038T>G (p.Tyr1680Asp) c.1429T>G n.3088T>G c.3860T>G c.5065T>G (p.Tyr1689Asp) n.803T>G c.5008T>G (p.Tyr1670Asp) c.5074T>G (p.Tyr1692Asp) c.4999T>G (p.Tyr1667Asp) n.2854T>G c.5131T>G (p.Tyr1711Asp) c.5077T>G (p.Tyr1693Asp) c.5092T>G (p.Tyr1698Asp) c.5002T>G (p.Tyr1668Asp) c.5127T>G n.3290T>G c.5200T>G (p.Tyr1734Asp) n.4021T>G n.2458T>G n.2429T>G n.2319T>G c.4861T>G (p.Tyr1621Asp) c.*4373T>G (n.*4373T>G) c.4897T>G (p.Tyr1633Asp) n.2929T>G c.1388T>G n.2321T>G c.5260T>G (p.Tyr1754Asp) c.5257T>G (p.Tyr1753Asp) c.5149T>G (p.Tyr1717Asp) c.5128T>G (p.Tyr1710Asp) c.4474T>G (p.Tyr1492Asp) c.5422T>G (p.Tyr1808Asp) c.5170T>G (p.Tyr1724Asp) c.3916T>G (p.Tyr1306Asp) | |
16 | g.2088273A= | CA2202032016 | TSC2 | c.*3556A= (n.*3556A=) c.5054A= (p.Tyr1685=) c.5204A= (p.Tyr1735=) c.*5720A= (n.*5720A=) c.*7956A= (n.*7956A=) c.5207A= (p.Tyr1736=) c.5138A= (p.Tyr1713=) c.5006A= (p.Tyr1669=) c.5039A= (p.Tyr1680=) c.1430A= n.3089A= c.3861A= c.5066A= (p.Tyr1689=) n.804A= c.5009A= (p.Tyr1670=) c.5075A= (p.Tyr1692=) c.5000A= (p.Tyr1667=) n.2855A= c.5132A= (p.Tyr1711=) c.5078A= (p.Tyr1693=) c.5093A= (p.Tyr1698=) c.5003A= (p.Tyr1668=) c.5128A= n.3291A= c.5201A= (p.Tyr1734=) n.4022A= n.2459A= n.2430A= n.2320A= c.4862A= (p.Tyr1621=) c.*4374A= (n.*4374A=) c.4898A= (p.Tyr1633=) n.2930A= c.1389A= n.2322A= c.5261A= (p.Tyr1754=) c.5258A= (p.Tyr1753=) c.5150A= (p.Tyr1717=) c.5129A= (p.Tyr1710=) c.4475A= (p.Tyr1492=) c.5423A= (p.Tyr1808=) c.5171A= (p.Tyr1724=) c.3917A= (p.Tyr1306=) | |
16 | g.2088273A>C | CA054421 | TSC2 | c.*3556A>C (n.*3556A>C) c.5054A>C (p.Tyr1685Ser) c.5204A>C (p.Tyr1735Ser) c.*5720A>C (n.*5720A>C) c.*7956A>C (n.*7956A>C) c.5207A>C (p.Tyr1736Ser) c.5138A>C (p.Tyr1713Ser) c.5006A>C (p.Tyr1669Ser) c.5039A>C (p.Tyr1680Ser) c.1430A>C n.3089A>C c.3861A>C c.5066A>C (p.Tyr1689Ser) n.804A>C c.5009A>C (p.Tyr1670Ser) c.5075A>C (p.Tyr1692Ser) c.5000A>C (p.Tyr1667Ser) n.2855A>C c.5132A>C (p.Tyr1711Ser) c.5078A>C (p.Tyr1693Ser) c.5093A>C (p.Tyr1698Ser) c.5003A>C (p.Tyr1668Ser) c.5128A>C n.3291A>C c.5201A>C (p.Tyr1734Ser) n.4022A>C n.2459A>C n.2430A>C n.2320A>C c.4862A>C (p.Tyr1621Ser) c.*4374A>C (n.*4374A>C) c.4898A>C (p.Tyr1633Ser) n.2930A>C c.1389A>C n.2322A>C c.5261A>C (p.Tyr1754Ser) c.5258A>C (p.Tyr1753Ser) c.5150A>C (p.Tyr1717Ser) c.5129A>C (p.Tyr1710Ser) c.4475A>C (p.Tyr1492Ser) c.5423A>C (p.Tyr1808Ser) c.5171A>C (p.Tyr1724Ser) c.3917A>C (p.Tyr1306Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088273A>G | CA394314314 | TSC2 | c.*3556A>G (n.*3556A>G) c.5054A>G (p.Tyr1685Cys) c.5204A>G (p.Tyr1735Cys) c.*5720A>G (n.*5720A>G) c.*7956A>G (n.*7956A>G) c.5207A>G (p.Tyr1736Cys) c.5138A>G (p.Tyr1713Cys) c.5006A>G (p.Tyr1669Cys) c.5039A>G (p.Tyr1680Cys) c.1430A>G n.3089A>G c.3861A>G c.5066A>G (p.Tyr1689Cys) n.804A>G c.5009A>G (p.Tyr1670Cys) c.5075A>G (p.Tyr1692Cys) c.5000A>G (p.Tyr1667Cys) n.2855A>G c.5132A>G (p.Tyr1711Cys) c.5078A>G (p.Tyr1693Cys) c.5093A>G (p.Tyr1698Cys) c.5003A>G (p.Tyr1668Cys) c.5128A>G n.3291A>G c.5201A>G (p.Tyr1734Cys) n.4022A>G n.2459A>G n.2430A>G n.2320A>G c.4862A>G (p.Tyr1621Cys) c.*4374A>G (n.*4374A>G) c.4898A>G (p.Tyr1633Cys) n.2930A>G c.1389A>G n.2322A>G c.5261A>G (p.Tyr1754Cys) c.5258A>G (p.Tyr1753Cys) c.5150A>G (p.Tyr1717Cys) c.5129A>G (p.Tyr1710Cys) c.4475A>G (p.Tyr1492Cys) c.5423A>G (p.Tyr1808Cys) c.5171A>G (p.Tyr1724Cys) c.3917A>G (p.Tyr1306Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088273A>T | CA394314317 | TSC2 | c.*3556A>T (n.*3556A>T) c.5054A>T (p.Tyr1685Phe) c.5204A>T (p.Tyr1735Phe) c.*5720A>T (n.*5720A>T) c.*7956A>T (n.*7956A>T) c.5207A>T (p.Tyr1736Phe) c.5138A>T (p.Tyr1713Phe) c.5006A>T (p.Tyr1669Phe) c.5039A>T (p.Tyr1680Phe) c.1430A>T n.3089A>T c.3861A>T c.5066A>T (p.Tyr1689Phe) n.804A>T c.5009A>T (p.Tyr1670Phe) c.5075A>T (p.Tyr1692Phe) c.5000A>T (p.Tyr1667Phe) n.2855A>T c.5132A>T (p.Tyr1711Phe) c.5078A>T (p.Tyr1693Phe) c.5093A>T (p.Tyr1698Phe) c.5003A>T (p.Tyr1668Phe) c.5128A>T n.3291A>T c.5201A>T (p.Tyr1734Phe) n.4022A>T n.2459A>T n.2430A>T n.2320A>T c.4862A>T (p.Tyr1621Phe) c.*4374A>T (n.*4374A>T) c.4898A>T (p.Tyr1633Phe) n.2930A>T c.1389A>T n.2322A>T c.5261A>T (p.Tyr1754Phe) c.5258A>T (p.Tyr1753Phe) c.5150A>T (p.Tyr1717Phe) c.5129A>T (p.Tyr1710Phe) c.4475A>T (p.Tyr1492Phe) c.5423A>T (p.Tyr1808Phe) c.5171A>T (p.Tyr1724Phe) c.3917A>T (p.Tyr1306Phe) | dbSNP |
16 | g.2088273_2088290del | CA2695221755 | TSC2 | c.*3556_*3573del (n.*3556_*3573del) c.5054_5071del (p.Tyr1685_Ala1691delinsSer) c.5204_5221del (p.Tyr1735_Ala1741delinsSer) c.*5720_*5737del (n.*5720_*5737del) c.*7956_*7973del (n.*7956_*7973del) c.5207_5224del (p.Tyr1736_Ala1742delinsSer) c.5138_5155del (p.Tyr1713_Ala1719delinsSer) c.5006_5023del (p.Tyr1669_Ala1675delinsSer) c.5039_5056del (p.Tyr1680_Ala1686delinsSer) c.1430_1447del n.3089_3106del c.3861_3878del c.5066_5083del (p.Tyr1689_Ala1695delinsSer) n.804_821del c.5009_5026del (p.Tyr1670_Ala1676delinsSer) c.5075_5092del (p.Tyr1692_Ala1698delinsSer) c.5000_5017del (p.Tyr1667_Ala1673delinsSer) n.2855_2872del c.5132_5149del (p.Tyr1711_Ala1717delinsSer) c.5078_5095del (p.Tyr1693_Ala1699delinsSer) c.5093_5110del (p.Tyr1698_Ala1704delinsSer) c.5003_5020del (p.Tyr1668_Ala1674delinsSer) c.5128_5145del n.3291_3308del c.5201_5218del (p.Tyr1734_Ala1740delinsSer) n.4022_4039del n.2459_2476del n.2430_2447del n.2320_2337del c.4862_4879del (p.Tyr1621_Ala1627delinsSer) c.*4374_*4391del (n.*4374_*4391del) c.4898_4915del (p.Tyr1633_Ala1639delinsSer) n.2930_2947del c.1389_1406del n.2322_2339del c.5261_5278del (p.Tyr1754_Ala1760delinsSer) c.5258_5275del (p.Tyr1753_Ala1759delinsSer) c.5150_5167del (p.Tyr1717_Ala1723delinsSer) c.5129_5146del (p.Tyr1710_Ala1716delinsSer) c.4475_4492del (p.Tyr1492_Ala1498delinsSer) c.5423_5440del (p.Tyr1808_Ala1814delinsSer) c.5171_5188del (p.Tyr1724_Ala1730delinsSer) c.3917_3934del (p.Tyr1306_Ala1312delinsSer) | |
16 | g.2088274C>A | CA022148 | TSC2 | c.*3557C>A (n.*3557C>A) c.5055C>A (p.Tyr1685Ter) c.5205C>A (p.Tyr1735Ter) c.*5721C>A (n.*5721C>A) c.*7957C>A (n.*7957C>A) c.5208C>A (p.Tyr1736Ter) c.5139C>A (p.Tyr1713Ter) c.5007C>A (p.Tyr1669Ter) c.5040C>A (p.Tyr1680Ter) c.1431C>A n.3090C>A c.3862C>A c.5067C>A (p.Tyr1689Ter) n.805C>A c.5010C>A (p.Tyr1670Ter) c.5076C>A (p.Tyr1692Ter) c.5001C>A (p.Tyr1667Ter) n.2856C>A c.5133C>A (p.Tyr1711Ter) c.5079C>A (p.Tyr1693Ter) c.5094C>A (p.Tyr1698Ter) c.5004C>A (p.Tyr1668Ter) c.5129C>A n.3292C>A c.5202C>A (p.Tyr1734Ter) n.4023C>A n.2460C>A n.2431C>A n.2321C>A c.4863C>A (p.Tyr1621Ter) c.*4375C>A (n.*4375C>A) c.4899C>A (p.Tyr1633Ter) n.2931C>A c.1390C>A n.2323C>A c.5262C>A (p.Tyr1754Ter) c.5259C>A (p.Tyr1753Ter) c.5151C>A (p.Tyr1717Ter) c.5130C>A (p.Tyr1710Ter) c.4476C>A (p.Tyr1492Ter) c.5424C>A (p.Tyr1808Ter) c.5172C>A (p.Tyr1724Ter) c.3918C>A (p.Tyr1306Ter) | ClinVar dbSNP |
16 | g.2088274C= | CA2202032027 | TSC2 | c.*3557C= (n.*3557C=) c.5055C= (p.Tyr1685=) c.5205C= (p.Tyr1735=) c.*5721C= (n.*5721C=) c.*7957C= (n.*7957C=) c.5208C= (p.Tyr1736=) c.5139C= (p.Tyr1713=) c.5007C= (p.Tyr1669=) c.5040C= (p.Tyr1680=) c.1431C= n.3090C= c.3862C= c.5067C= (p.Tyr1689=) n.805C= c.5010C= (p.Tyr1670=) c.5076C= (p.Tyr1692=) c.5001C= (p.Tyr1667=) n.2856C= c.5133C= (p.Tyr1711=) c.5079C= (p.Tyr1693=) c.5094C= (p.Tyr1698=) c.5004C= (p.Tyr1668=) c.5129C= n.3292C= c.5202C= (p.Tyr1734=) n.4023C= n.2460C= n.2431C= n.2321C= c.4863C= (p.Tyr1621=) c.*4375C= (n.*4375C=) c.4899C= (p.Tyr1633=) n.2931C= c.1390C= n.2323C= c.5262C= (p.Tyr1754=) c.5259C= (p.Tyr1753=) c.5151C= (p.Tyr1717=) c.5130C= (p.Tyr1710=) c.4476C= (p.Tyr1492=) c.5424C= (p.Tyr1808=) c.5172C= (p.Tyr1724=) c.3918C= (p.Tyr1306=) | |
16 | g.2088274C>G | CA394314318 | TSC2 | c.*3557C>G (n.*3557C>G) c.5055C>G (p.Tyr1685Ter) c.5205C>G (p.Tyr1735Ter) c.*5721C>G (n.*5721C>G) c.*7957C>G (n.*7957C>G) c.5208C>G (p.Tyr1736Ter) c.5139C>G (p.Tyr1713Ter) c.5007C>G (p.Tyr1669Ter) c.5040C>G (p.Tyr1680Ter) c.1431C>G n.3090C>G c.3862C>G c.5067C>G (p.Tyr1689Ter) n.805C>G c.5010C>G (p.Tyr1670Ter) c.5076C>G (p.Tyr1692Ter) c.5001C>G (p.Tyr1667Ter) n.2856C>G c.5133C>G (p.Tyr1711Ter) c.5079C>G (p.Tyr1693Ter) c.5094C>G (p.Tyr1698Ter) c.5004C>G (p.Tyr1668Ter) c.5129C>G n.3292C>G c.5202C>G (p.Tyr1734Ter) n.4023C>G n.2460C>G n.2431C>G n.2321C>G c.4863C>G (p.Tyr1621Ter) c.*4375C>G (n.*4375C>G) c.4899C>G (p.Tyr1633Ter) n.2931C>G c.1390C>G n.2323C>G c.5262C>G (p.Tyr1754Ter) c.5259C>G (p.Tyr1753Ter) c.5151C>G (p.Tyr1717Ter) c.5130C>G (p.Tyr1710Ter) c.4476C>G (p.Tyr1492Ter) c.5424C>G (p.Tyr1808Ter) c.5172C>G (p.Tyr1724Ter) c.3918C>G (p.Tyr1306Ter) | |
16 | g.2088274C>T | CA054432 | TSC2 | c.*3557C>T (n.*3557C>T) c.5055C>T (p.Tyr1685=) c.5205C>T (p.Tyr1735=) c.*5721C>T (n.*5721C>T) c.*7957C>T (n.*7957C>T) c.5208C>T (p.Tyr1736=) c.5139C>T (p.Tyr1713=) c.5007C>T (p.Tyr1669=) c.5040C>T (p.Tyr1680=) c.1431C>T n.3090C>T c.3862C>T c.5067C>T (p.Tyr1689=) n.805C>T c.5010C>T (p.Tyr1670=) c.5076C>T (p.Tyr1692=) c.5001C>T (p.Tyr1667=) n.2856C>T c.5133C>T (p.Tyr1711=) c.5079C>T (p.Tyr1693=) c.5094C>T (p.Tyr1698=) c.5004C>T (p.Tyr1668=) c.5129C>T n.3292C>T c.5202C>T (p.Tyr1734=) n.4023C>T n.2460C>T n.2431C>T n.2321C>T c.4863C>T (p.Tyr1621=) c.*4375C>T (n.*4375C>T) c.4899C>T (p.Tyr1633=) n.2931C>T c.1390C>T n.2323C>T c.5262C>T (p.Tyr1754=) c.5259C>T (p.Tyr1753=) c.5151C>T (p.Tyr1717=) c.5130C>T (p.Tyr1710=) c.4476C>T (p.Tyr1492=) c.5424C>T (p.Tyr1808=) c.5172C>T (p.Tyr1724=) c.3918C>T (p.Tyr1306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088277dup | CA2573151980 | TSC2 | c.*3560dup (n.*3560dup) c.5058dup (p.Ser1687LeufsTer?) c.5208dup (p.Ser1737LeufsTer?) c.*5724dup (n.*5724dup) c.*7960dup (n.*7960dup) c.5211dup (p.Ser1738LeufsTer?) c.5142dup (p.Ser1715LeufsTer?) c.5010dup (p.Ser1671LeufsTer?) c.5043dup (p.Ser1682LeufsTer?) c.1434dup n.3093dup c.3865dup c.5070dup (p.Ser1691LeufsTer?) n.808dup c.5013dup (p.Ser1672LeufsTer?) c.5079dup (p.Ser1694LeufsTer?) c.5004dup (p.Ser1669LeufsTer?) n.2859dup c.5136dup (p.Ser1713LeufsTer?) c.5082dup (p.Ser1695LeufsTer?) c.5097dup (p.Ser1700LeufsTer?) c.5007dup (p.Ser1670LeufsTer?) c.5132dup n.3295dup c.5205dup (p.Ser1736LeufsTer?) n.4026dup n.2463dup n.2434dup n.2324dup c.4866dup (p.Ser1623LeufsTer?) c.*4378dup (n.*4378dup) c.4902dup (p.Ser1635LeufsTer?) n.2934dup c.1393dup n.2326dup c.5265dup (p.Ser1756LeufsTer?) c.5262dup (p.Ser1755LeufsTer?) c.5154dup (p.Ser1719LeufsTer?) c.5133dup (p.Ser1712LeufsTer?) c.4479dup (p.Ser1494LeufsTer?) c.5427dup (p.Ser1810LeufsTer?) c.5175dup (p.Ser1726LeufsTer?) c.3921dup (p.Ser1308LeufsTer?) | ClinVar dbSNP |
16 | g.2088274_2088278delinsCCCCT | CA2202032038 | TSC2 | c.*3557_*3561delinsCCCCT (n.*3557_*3561delinsCCCCT) c.5055_5059delinsCCCCT (p.Tyr1685=) c.5205_5209delinsCCCCT (p.Tyr1735=) c.*5721_*5725delinsCCCCT (n.*5721_*5725delinsCCCCT) c.*7957_*7961delinsCCCCT (n.*7957_*7961delinsCCCCT) c.5208_5212delinsCCCCT (p.Tyr1736=) c.5139_5143delinsCCCCT (p.Tyr1713=) c.5007_5011delinsCCCCT (p.Tyr1669=) c.5040_5044delinsCCCCT (p.Tyr1680=) c.1431_1435delinsCCCCT n.3090_3094delinsCCCCT c.3862_3866delinsCCCCT c.5067_5071delinsCCCCT (p.Tyr1689=) n.805_809delinsCCCCT c.5010_5014delinsCCCCT (p.Tyr1670=) c.5076_5080delinsCCCCT (p.Tyr1692=) c.5001_5005delinsCCCCT (p.Tyr1667=) n.2856_2860delinsCCCCT c.5133_5137delinsCCCCT (p.Tyr1711=) c.5079_5083delinsCCCCT (p.Tyr1693=) c.5094_5098delinsCCCCT (p.Tyr1698=) c.5004_5008delinsCCCCT (p.Tyr1668=) c.5129_5133delinsCCCCT n.3292_3296delinsCCCCT c.5202_5206delinsCCCCT (p.Tyr1734=) n.4023_4027delinsCCCCT n.2460_2464delinsCCCCT n.2431_2435delinsCCCCT n.2321_2325delinsCCCCT c.4863_4867delinsCCCCT (p.Tyr1621=) c.*4375_*4379delinsCCCCT (n.*4375_*4379delinsCCCCT) c.4899_4903delinsCCCCT (p.Tyr1633=) n.2931_2935delinsCCCCT c.1390_1394delinsCCCCT n.2323_2327delinsCCCCT c.5262_5266delinsCCCCT (p.Tyr1754=) c.5259_5263delinsCCCCT (p.Tyr1753=) c.5151_5155delinsCCCCT (p.Tyr1717=) c.5130_5134delinsCCCCT (p.Tyr1710=) c.4476_4480delinsCCCCT (p.Tyr1492=) c.5424_5428delinsCCCCT (p.Tyr1808=) c.5172_5176delinsCCCCT (p.Tyr1724=) c.3918_3922delinsCCCCT (p.Tyr1306=) | |
16 | g.2088275C>A | CA394314327 | TSC2 | c.*3558C>A (n.*3558C>A) c.5056C>A (p.Pro1686Thr) c.5206C>A (p.Pro1736Thr) c.*5722C>A (n.*5722C>A) c.*7958C>A (n.*7958C>A) c.5209C>A (p.Pro1737Thr) c.5140C>A (p.Pro1714Thr) c.5008C>A (p.Pro1670Thr) c.5041C>A (p.Pro1681Thr) c.1432C>A n.3091C>A c.3863C>A c.5068C>A (p.Pro1690Thr) n.806C>A c.5011C>A (p.Pro1671Thr) c.5077C>A (p.Pro1693Thr) c.5002C>A (p.Pro1668Thr) n.2857C>A c.5134C>A (p.Pro1712Thr) c.5080C>A (p.Pro1694Thr) c.5095C>A (p.Pro1699Thr) c.5005C>A (p.Pro1669Thr) c.5130C>A n.3293C>A c.5203C>A (p.Pro1735Thr) n.4024C>A n.2461C>A n.2432C>A n.2322C>A c.4864C>A (p.Pro1622Thr) c.*4376C>A (n.*4376C>A) c.4900C>A (p.Pro1634Thr) n.2932C>A c.1391C>A n.2324C>A c.5263C>A (p.Pro1755Thr) c.5260C>A (p.Pro1754Thr) c.5152C>A (p.Pro1718Thr) c.5131C>A (p.Pro1711Thr) c.4477C>A (p.Pro1493Thr) c.5425C>A (p.Pro1809Thr) c.5173C>A (p.Pro1725Thr) c.3919C>A (p.Pro1307Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088275C= | CA2202032053 | TSC2 | c.*3558C= (n.*3558C=) c.5056C= (p.Pro1686=) c.5206C= (p.Pro1736=) c.*5722C= (n.*5722C=) c.*7958C= (n.*7958C=) c.5209C= (p.Pro1737=) c.5140C= (p.Pro1714=) c.5008C= (p.Pro1670=) c.5041C= (p.Pro1681=) c.1432C= n.3091C= c.3863C= c.5068C= (p.Pro1690=) n.806C= c.5011C= (p.Pro1671=) c.5077C= (p.Pro1693=) c.5002C= (p.Pro1668=) n.2857C= c.5134C= (p.Pro1712=) c.5080C= (p.Pro1694=) c.5095C= (p.Pro1699=) c.5005C= (p.Pro1669=) c.5130C= n.3293C= c.5203C= (p.Pro1735=) n.4024C= n.2461C= n.2432C= n.2322C= c.4864C= (p.Pro1622=) c.*4376C= (n.*4376C=) c.4900C= (p.Pro1634=) n.2932C= c.1391C= n.2324C= c.5263C= (p.Pro1755=) c.5260C= (p.Pro1754=) c.5152C= (p.Pro1718=) c.5131C= (p.Pro1711=) c.4477C= (p.Pro1493=) c.5425C= (p.Pro1809=) c.5173C= (p.Pro1725=) c.3919C= (p.Pro1307=) | |
16 | g.2088275C>G | CA394314331 | TSC2 | c.*3558C>G (n.*3558C>G) c.5056C>G (p.Pro1686Ala) c.5206C>G (p.Pro1736Ala) c.*5722C>G (n.*5722C>G) c.*7958C>G (n.*7958C>G) c.5209C>G (p.Pro1737Ala) c.5140C>G (p.Pro1714Ala) c.5008C>G (p.Pro1670Ala) c.5041C>G (p.Pro1681Ala) c.1432C>G n.3091C>G c.3863C>G c.5068C>G (p.Pro1690Ala) n.806C>G c.5011C>G (p.Pro1671Ala) c.5077C>G (p.Pro1693Ala) c.5002C>G (p.Pro1668Ala) n.2857C>G c.5134C>G (p.Pro1712Ala) c.5080C>G (p.Pro1694Ala) c.5095C>G (p.Pro1699Ala) c.5005C>G (p.Pro1669Ala) c.5130C>G n.3293C>G c.5203C>G (p.Pro1735Ala) n.4024C>G n.2461C>G n.2432C>G n.2322C>G c.4864C>G (p.Pro1622Ala) c.*4376C>G (n.*4376C>G) c.4900C>G (p.Pro1634Ala) n.2932C>G c.1391C>G n.2324C>G c.5263C>G (p.Pro1755Ala) c.5260C>G (p.Pro1754Ala) c.5152C>G (p.Pro1718Ala) c.5131C>G (p.Pro1711Ala) c.4477C>G (p.Pro1493Ala) c.5425C>G (p.Pro1809Ala) c.5173C>G (p.Pro1725Ala) c.3919C>G (p.Pro1307Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088275C>T | CA054437 | TSC2 | c.*3558C>T (n.*3558C>T) c.5056C>T (p.Pro1686Ser) c.5206C>T (p.Pro1736Ser) c.*5722C>T (n.*5722C>T) c.*7958C>T (n.*7958C>T) c.5209C>T (p.Pro1737Ser) c.5140C>T (p.Pro1714Ser) c.5008C>T (p.Pro1670Ser) c.5041C>T (p.Pro1681Ser) c.1432C>T n.3091C>T c.3863C>T c.5068C>T (p.Pro1690Ser) n.806C>T c.5011C>T (p.Pro1671Ser) c.5077C>T (p.Pro1693Ser) c.5002C>T (p.Pro1668Ser) n.2857C>T c.5134C>T (p.Pro1712Ser) c.5080C>T (p.Pro1694Ser) c.5095C>T (p.Pro1699Ser) c.5005C>T (p.Pro1669Ser) c.5130C>T n.3293C>T c.5203C>T (p.Pro1735Ser) n.4024C>T n.2461C>T n.2432C>T n.2322C>T c.4864C>T (p.Pro1622Ser) c.*4376C>T (n.*4376C>T) c.4900C>T (p.Pro1634Ser) n.2932C>T c.1391C>T n.2324C>T c.5263C>T (p.Pro1755Ser) c.5260C>T (p.Pro1754Ser) c.5152C>T (p.Pro1718Ser) c.5131C>T (p.Pro1711Ser) c.4477C>T (p.Pro1493Ser) c.5425C>T (p.Pro1809Ser) c.5173C>T (p.Pro1725Ser) c.3919C>T (p.Pro1307Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088277_2088280del | CA022151 | TSC2 | c.*3560_*3563del (n.*3560_*3563del) c.5058_5061del (p.Lys1688GlyfsTer?) c.5208_5211del (p.Lys1738GlyfsTer?) c.*5724_*5727del (n.*5724_*5727del) c.*7960_*7963del (n.*7960_*7963del) c.5211_5214del (p.Lys1739GlyfsTer?) c.5142_5145del (p.Lys1716GlyfsTer?) c.5010_5013del (p.Lys1672GlyfsTer?) c.5043_5046del (p.Lys1683GlyfsTer?) c.1434_1437del n.3093_3096del c.3865_3868del c.5070_5073del (p.Lys1692GlyfsTer?) n.808_811del c.5013_5016del (p.Lys1673GlyfsTer?) c.5079_5082del (p.Lys1695GlyfsTer?) c.5004_5007del (p.Lys1670GlyfsTer?) n.2859_2862del c.5136_5139del (p.Lys1714GlyfsTer?) c.5082_5085del (p.Lys1696GlyfsTer?) c.5097_5100del (p.Lys1701GlyfsTer?) c.5007_5010del (p.Lys1671GlyfsTer?) c.5132_5135del n.3295_3298del c.5205_5208del (p.Lys1737GlyfsTer?) n.4026_4029del n.2463_2466del n.2434_2437del n.2324_2327del c.4866_4869del (p.Lys1624GlyfsTer?) c.*4378_*4381del (n.*4378_*4381del) c.4902_4905del (p.Lys1636GlyfsTer?) n.2934_2937del c.1393_1396del n.2326_2329del c.5265_5268del (p.Lys1757GlyfsTer?) c.5262_5265del (p.Lys1756GlyfsTer?) c.5154_5157del (p.Lys1720GlyfsTer?) c.5133_5136del (p.Lys1713GlyfsTer?) c.4479_4482del (p.Lys1495GlyfsTer?) c.5427_5430del (p.Lys1811GlyfsTer?) c.5175_5178del (p.Lys1727GlyfsTer?) c.3921_3924del (p.Lys1309GlyfsTer?) | ClinVar dbSNP |
16 | g.2088276C>A | CA394314335 | TSC2 | c.*3559C>A (n.*3559C>A) c.5057C>A (p.Pro1686His) c.5207C>A (p.Pro1736His) c.*5723C>A (n.*5723C>A) c.*7959C>A (n.*7959C>A) c.5210C>A (p.Pro1737His) c.5141C>A (p.Pro1714His) c.5009C>A (p.Pro1670His) c.5042C>A (p.Pro1681His) c.1433C>A n.3092C>A c.3864C>A c.5069C>A (p.Pro1690His) n.807C>A c.5012C>A (p.Pro1671His) c.5078C>A (p.Pro1693His) c.5003C>A (p.Pro1668His) n.2858C>A c.5135C>A (p.Pro1712His) c.5081C>A (p.Pro1694His) c.5096C>A (p.Pro1699His) c.5006C>A (p.Pro1669His) c.5131C>A n.3294C>A c.5204C>A (p.Pro1735His) n.4025C>A n.2462C>A n.2433C>A n.2323C>A c.4865C>A (p.Pro1622His) c.*4377C>A (n.*4377C>A) c.4901C>A (p.Pro1634His) n.2933C>A c.1392C>A n.2325C>A c.5264C>A (p.Pro1755His) c.5261C>A (p.Pro1754His) c.5153C>A (p.Pro1718His) c.5132C>A (p.Pro1711His) c.4478C>A (p.Pro1493His) c.5426C>A (p.Pro1809His) c.5174C>A (p.Pro1725His) c.3920C>A (p.Pro1307His) | dbSNP |
16 | g.2088276C= | CA2202032066 | TSC2 | c.*3559C= (n.*3559C=) c.5057C= (p.Pro1686=) c.5207C= (p.Pro1736=) c.*5723C= (n.*5723C=) c.*7959C= (n.*7959C=) c.5210C= (p.Pro1737=) c.5141C= (p.Pro1714=) c.5009C= (p.Pro1670=) c.5042C= (p.Pro1681=) c.1433C= n.3092C= c.3864C= c.5069C= (p.Pro1690=) n.807C= c.5012C= (p.Pro1671=) c.5078C= (p.Pro1693=) c.5003C= (p.Pro1668=) n.2858C= c.5135C= (p.Pro1712=) c.5081C= (p.Pro1694=) c.5096C= (p.Pro1699=) c.5006C= (p.Pro1669=) c.5131C= n.3294C= c.5204C= (p.Pro1735=) n.4025C= n.2462C= n.2433C= n.2323C= c.4865C= (p.Pro1622=) c.*4377C= (n.*4377C=) c.4901C= (p.Pro1634=) n.2933C= c.1392C= n.2325C= c.5264C= (p.Pro1755=) c.5261C= (p.Pro1754=) c.5153C= (p.Pro1718=) c.5132C= (p.Pro1711=) c.4478C= (p.Pro1493=) c.5426C= (p.Pro1809=) c.5174C= (p.Pro1725=) c.3920C= (p.Pro1307=) | |
16 | g.2088276C>G | CA394314338 | TSC2 | c.*3559C>G (n.*3559C>G) c.5057C>G (p.Pro1686Arg) c.5207C>G (p.Pro1736Arg) c.*5723C>G (n.*5723C>G) c.*7959C>G (n.*7959C>G) c.5210C>G (p.Pro1737Arg) c.5141C>G (p.Pro1714Arg) c.5009C>G (p.Pro1670Arg) c.5042C>G (p.Pro1681Arg) c.1433C>G n.3092C>G c.3864C>G c.5069C>G (p.Pro1690Arg) n.807C>G c.5012C>G (p.Pro1671Arg) c.5078C>G (p.Pro1693Arg) c.5003C>G (p.Pro1668Arg) n.2858C>G c.5135C>G (p.Pro1712Arg) c.5081C>G (p.Pro1694Arg) c.5096C>G (p.Pro1699Arg) c.5006C>G (p.Pro1669Arg) c.5131C>G n.3294C>G c.5204C>G (p.Pro1735Arg) n.4025C>G n.2462C>G n.2433C>G n.2323C>G c.4865C>G (p.Pro1622Arg) c.*4377C>G (n.*4377C>G) c.4901C>G (p.Pro1634Arg) n.2933C>G c.1392C>G n.2325C>G c.5264C>G (p.Pro1755Arg) c.5261C>G (p.Pro1754Arg) c.5153C>G (p.Pro1718Arg) c.5132C>G (p.Pro1711Arg) c.4478C>G (p.Pro1493Arg) c.5426C>G (p.Pro1809Arg) c.5174C>G (p.Pro1725Arg) c.3920C>G (p.Pro1307Arg) | dbSNP |
16 | g.2088276C>T | CA054450 | TSC2 | c.*3559C>T (n.*3559C>T) c.5057C>T (p.Pro1686Leu) c.5207C>T (p.Pro1736Leu) c.*5723C>T (n.*5723C>T) c.*7959C>T (n.*7959C>T) c.5210C>T (p.Pro1737Leu) c.5141C>T (p.Pro1714Leu) c.5009C>T (p.Pro1670Leu) c.5042C>T (p.Pro1681Leu) c.1433C>T n.3092C>T c.3864C>T c.5069C>T (p.Pro1690Leu) n.807C>T c.5012C>T (p.Pro1671Leu) c.5078C>T (p.Pro1693Leu) c.5003C>T (p.Pro1668Leu) n.2858C>T c.5135C>T (p.Pro1712Leu) c.5081C>T (p.Pro1694Leu) c.5096C>T (p.Pro1699Leu) c.5006C>T (p.Pro1669Leu) c.5131C>T n.3294C>T c.5204C>T (p.Pro1735Leu) n.4025C>T n.2462C>T n.2433C>T n.2323C>T c.4865C>T (p.Pro1622Leu) c.*4377C>T (n.*4377C>T) c.4901C>T (p.Pro1634Leu) n.2933C>T c.1392C>T n.2325C>T c.5264C>T (p.Pro1755Leu) c.5261C>T (p.Pro1754Leu) c.5153C>T (p.Pro1718Leu) c.5132C>T (p.Pro1711Leu) c.4478C>T (p.Pro1493Leu) c.5426C>T (p.Pro1809Leu) c.5174C>T (p.Pro1725Leu) c.3920C>T (p.Pro1307Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088277C>A | CA054458 | TSC2 | c.*3560C>A (n.*3560C>A) c.5058C>A (p.Pro1686=) c.5208C>A (p.Pro1736=) c.*5724C>A (n.*5724C>A) c.*7960C>A (n.*7960C>A) c.5211C>A (p.Pro1737=) c.5142C>A (p.Pro1714=) c.5010C>A (p.Pro1670=) c.5043C>A (p.Pro1681=) c.1434C>A n.3093C>A c.3865C>A c.5070C>A (p.Pro1690=) n.808C>A c.5013C>A (p.Pro1671=) c.5079C>A (p.Pro1693=) c.5004C>A (p.Pro1668=) n.2859C>A c.5136C>A (p.Pro1712=) c.5082C>A (p.Pro1694=) c.5097C>A (p.Pro1699=) c.5007C>A (p.Pro1669=) c.5132C>A n.3295C>A c.5205C>A (p.Pro1735=) n.4026C>A n.2463C>A n.2434C>A n.2324C>A c.4866C>A (p.Pro1622=) c.*4378C>A (n.*4378C>A) c.4902C>A (p.Pro1634=) n.2934C>A c.1393C>A n.2326C>A c.5265C>A (p.Pro1755=) c.5262C>A (p.Pro1754=) c.5154C>A (p.Pro1718=) c.5133C>A (p.Pro1711=) c.4479C>A (p.Pro1493=) c.5427C>A (p.Pro1809=) c.5175C>A (p.Pro1725=) c.3921C>A (p.Pro1307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088277C= | CA2202032087 | TSC2 | c.*3560C= (n.*3560C=) c.5058C= (p.Pro1686=) c.5208C= (p.Pro1736=) c.*5724C= (n.*5724C=) c.*7960C= (n.*7960C=) c.5211C= (p.Pro1737=) c.5142C= (p.Pro1714=) c.5010C= (p.Pro1670=) c.5043C= (p.Pro1681=) c.1434C= n.3093C= c.3865C= c.5070C= (p.Pro1690=) n.808C= c.5013C= (p.Pro1671=) c.5079C= (p.Pro1693=) c.5004C= (p.Pro1668=) n.2859C= c.5136C= (p.Pro1712=) c.5082C= (p.Pro1694=) c.5097C= (p.Pro1699=) c.5007C= (p.Pro1669=) c.5132C= n.3295C= c.5205C= (p.Pro1735=) n.4026C= n.2463C= n.2434C= n.2324C= c.4866C= (p.Pro1622=) c.*4378C= (n.*4378C=) c.4902C= (p.Pro1634=) n.2934C= c.1393C= n.2326C= c.5265C= (p.Pro1755=) c.5262C= (p.Pro1754=) c.5154C= (p.Pro1718=) c.5133C= (p.Pro1711=) c.4479C= (p.Pro1493=) c.5427C= (p.Pro1809=) c.5175C= (p.Pro1725=) c.3921C= (p.Pro1307=) | |
16 | g.2088277C>G | CA493043787 | TSC2 | c.*3560C>G (n.*3560C>G) c.5058C>G (p.Pro1686=) c.5208C>G (p.Pro1736=) c.*5724C>G (n.*5724C>G) c.*7960C>G (n.*7960C>G) c.5211C>G (p.Pro1737=) c.5142C>G (p.Pro1714=) c.5010C>G (p.Pro1670=) c.5043C>G (p.Pro1681=) c.1434C>G n.3093C>G c.3865C>G c.5070C>G (p.Pro1690=) n.808C>G c.5013C>G (p.Pro1671=) c.5079C>G (p.Pro1693=) c.5004C>G (p.Pro1668=) n.2859C>G c.5136C>G (p.Pro1712=) c.5082C>G (p.Pro1694=) c.5097C>G (p.Pro1699=) c.5007C>G (p.Pro1669=) c.5132C>G n.3295C>G c.5205C>G (p.Pro1735=) n.4026C>G n.2463C>G n.2434C>G n.2324C>G c.4866C>G (p.Pro1622=) c.*4378C>G (n.*4378C>G) c.4902C>G (p.Pro1634=) n.2934C>G c.1393C>G n.2326C>G c.5265C>G (p.Pro1755=) c.5262C>G (p.Pro1754=) c.5154C>G (p.Pro1718=) c.5133C>G (p.Pro1711=) c.4479C>G (p.Pro1493=) c.5427C>G (p.Pro1809=) c.5175C>G (p.Pro1725=) c.3921C>G (p.Pro1307=) | dbSNP |
16 | g.2088277C>T | CA054466 | TSC2 | c.*3560C>T (n.*3560C>T) c.5058C>T (p.Pro1686=) c.5208C>T (p.Pro1736=) c.*5724C>T (n.*5724C>T) c.*7960C>T (n.*7960C>T) c.5211C>T (p.Pro1737=) c.5142C>T (p.Pro1714=) c.5010C>T (p.Pro1670=) c.5043C>T (p.Pro1681=) c.1434C>T n.3093C>T c.3865C>T c.5070C>T (p.Pro1690=) n.808C>T c.5013C>T (p.Pro1671=) c.5079C>T (p.Pro1693=) c.5004C>T (p.Pro1668=) n.2859C>T c.5136C>T (p.Pro1712=) c.5082C>T (p.Pro1694=) c.5097C>T (p.Pro1699=) c.5007C>T (p.Pro1669=) c.5132C>T n.3295C>T c.5205C>T (p.Pro1735=) n.4026C>T n.2463C>T n.2434C>T n.2324C>T c.4866C>T (p.Pro1622=) c.*4378C>T (n.*4378C>T) c.4902C>T (p.Pro1634=) n.2934C>T c.1393C>T n.2326C>T c.5265C>T (p.Pro1755=) c.5262C>T (p.Pro1754=) c.5154C>T (p.Pro1718=) c.5133C>T (p.Pro1711=) c.4479C>T (p.Pro1493=) c.5427C>T (p.Pro1809=) c.5175C>T (p.Pro1725=) c.3921C>T (p.Pro1307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088277_2088278delinsCT | CA2202032094 | TSC2 | c.*3560_*3561delinsCT (n.*3560_*3561delinsCT) c.5058_5059delinsCT (p.Pro1686=) c.5208_5209delinsCT (p.Pro1736=) c.*5724_*5725delinsCT (n.*5724_*5725delinsCT) c.*7960_*7961delinsCT (n.*7960_*7961delinsCT) c.5211_5212delinsCT (p.Pro1737=) c.5142_5143delinsCT (p.Pro1714=) c.5010_5011delinsCT (p.Pro1670=) c.5043_5044delinsCT (p.Pro1681=) c.1434_1435delinsCT n.3093_3094delinsCT c.3865_3866delinsCT c.5070_5071delinsCT (p.Pro1690=) n.808_809delinsCT c.5013_5014delinsCT (p.Pro1671=) c.5079_5080delinsCT (p.Pro1693=) c.5004_5005delinsCT (p.Pro1668=) n.2859_2860delinsCT c.5136_5137delinsCT (p.Pro1712=) c.5082_5083delinsCT (p.Pro1694=) c.5097_5098delinsCT (p.Pro1699=) c.5007_5008delinsCT (p.Pro1669=) c.5132_5133delinsCT n.3295_3296delinsCT c.5205_5206delinsCT (p.Pro1735=) n.4026_4027delinsCT n.2463_2464delinsCT n.2434_2435delinsCT n.2324_2325delinsCT c.4866_4867delinsCT (p.Pro1622=) c.*4378_*4379delinsCT (n.*4378_*4379delinsCT) c.4902_4903delinsCT (p.Pro1634=) n.2934_2935delinsCT c.1393_1394delinsCT n.2326_2327delinsCT c.5265_5266delinsCT (p.Pro1755=) c.5262_5263delinsCT (p.Pro1754=) c.5154_5155delinsCT (p.Pro1718=) c.5133_5134delinsCT (p.Pro1711=) c.4479_4480delinsCT (p.Pro1493=) c.5427_5428delinsCT (p.Pro1809=) c.5175_5176delinsCT (p.Pro1725=) c.3921_3922delinsCT (p.Pro1307=) | |
16 | g.2088278del | CA915946266 | TSC2 | c.*3561del (n.*3561del) c.5059del (p.Ser1687ProfsTer?) c.5209del (p.Ser1737ProfsTer?) c.*5725del (n.*5725del) c.*7961del (n.*7961del) c.5212del (p.Ser1738ProfsTer?) c.5143del (p.Ser1715ProfsTer?) c.5011del (p.Ser1671ProfsTer?) c.5044del (p.Ser1682ProfsTer?) c.1435del n.3094del c.3866del c.5071del (p.Ser1691ProfsTer?) n.809del c.5014del (p.Ser1672ProfsTer?) c.5080del (p.Ser1694ProfsTer?) c.5005del (p.Ser1669ProfsTer?) n.2860del c.5137del (p.Ser1713ProfsTer?) c.5083del (p.Ser1695ProfsTer?) c.5098del (p.Ser1700ProfsTer?) c.5008del (p.Ser1670ProfsTer?) c.5133del n.3296del c.5206del (p.Ser1736ProfsTer?) n.4027del n.2464del n.2435del n.2325del c.4867del (p.Ser1623ProfsTer?) c.*4379del (n.*4379del) c.4903del (p.Ser1635ProfsTer?) n.2935del c.1394del n.2327del c.5266del (p.Ser1756ProfsTer?) c.5263del (p.Ser1755ProfsTer?) c.5155del (p.Ser1719ProfsTer?) c.5134del (p.Ser1712ProfsTer?) c.4480del (p.Ser1494ProfsTer?) c.5428del (p.Ser1810ProfsTer?) c.5176del (p.Ser1726ProfsTer?) c.3922del (p.Ser1308ProfsTer?) | ClinVar dbSNP |
16 | g.2088278T>A | CA394314359 | TSC2 | c.*3561T>A (n.*3561T>A) c.5059T>A (p.Ser1687Thr) c.5209T>A (p.Ser1737Thr) c.*5725T>A (n.*5725T>A) c.*7961T>A (n.*7961T>A) c.5212T>A (p.Ser1738Thr) c.5143T>A (p.Ser1715Thr) c.5011T>A (p.Ser1671Thr) c.5044T>A (p.Ser1682Thr) c.1435T>A n.3094T>A c.3866T>A c.5071T>A (p.Ser1691Thr) n.809T>A c.5014T>A (p.Ser1672Thr) c.5080T>A (p.Ser1694Thr) c.5005T>A (p.Ser1669Thr) n.2860T>A c.5137T>A (p.Ser1713Thr) c.5083T>A (p.Ser1695Thr) c.5098T>A (p.Ser1700Thr) c.5008T>A (p.Ser1670Thr) c.5133T>A n.3296T>A c.5206T>A (p.Ser1736Thr) n.4027T>A n.2464T>A n.2435T>A n.2325T>A c.4867T>A (p.Ser1623Thr) c.*4379T>A (n.*4379T>A) c.4903T>A (p.Ser1635Thr) n.2935T>A c.1394T>A n.2327T>A c.5266T>A (p.Ser1756Thr) c.5263T>A (p.Ser1755Thr) c.5155T>A (p.Ser1719Thr) c.5134T>A (p.Ser1712Thr) c.4480T>A (p.Ser1494Thr) c.5428T>A (p.Ser1810Thr) c.5176T>A (p.Ser1726Thr) c.3922T>A (p.Ser1308Thr) | |
16 | g.2088278T>C | CA394314362 | TSC2 | c.*3561T>C (n.*3561T>C) c.5059T>C (p.Ser1687Pro) c.5209T>C (p.Ser1737Pro) c.*5725T>C (n.*5725T>C) c.*7961T>C (n.*7961T>C) c.5212T>C (p.Ser1738Pro) c.5143T>C (p.Ser1715Pro) c.5011T>C (p.Ser1671Pro) c.5044T>C (p.Ser1682Pro) c.1435T>C n.3094T>C c.3866T>C c.5071T>C (p.Ser1691Pro) n.809T>C c.5014T>C (p.Ser1672Pro) c.5080T>C (p.Ser1694Pro) c.5005T>C (p.Ser1669Pro) n.2860T>C c.5137T>C (p.Ser1713Pro) c.5083T>C (p.Ser1695Pro) c.5098T>C (p.Ser1700Pro) c.5008T>C (p.Ser1670Pro) c.5133T>C n.3296T>C c.5206T>C (p.Ser1736Pro) n.4027T>C n.2464T>C n.2435T>C n.2325T>C c.4867T>C (p.Ser1623Pro) c.*4379T>C (n.*4379T>C) c.4903T>C (p.Ser1635Pro) n.2935T>C c.1394T>C n.2327T>C c.5266T>C (p.Ser1756Pro) c.5263T>C (p.Ser1755Pro) c.5155T>C (p.Ser1719Pro) c.5134T>C (p.Ser1712Pro) c.4480T>C (p.Ser1494Pro) c.5428T>C (p.Ser1810Pro) c.5176T>C (p.Ser1726Pro) c.3922T>C (p.Ser1308Pro) | |
16 | g.2088278T>G | CA394314375 | TSC2 | c.*3561T>G (n.*3561T>G) c.5059T>G (p.Ser1687Ala) c.5209T>G (p.Ser1737Ala) c.*5725T>G (n.*5725T>G) c.*7961T>G (n.*7961T>G) c.5212T>G (p.Ser1738Ala) c.5143T>G (p.Ser1715Ala) c.5011T>G (p.Ser1671Ala) c.5044T>G (p.Ser1682Ala) c.1435T>G n.3094T>G c.3866T>G c.5071T>G (p.Ser1691Ala) n.809T>G c.5014T>G (p.Ser1672Ala) c.5080T>G (p.Ser1694Ala) c.5005T>G (p.Ser1669Ala) n.2860T>G c.5137T>G (p.Ser1713Ala) c.5083T>G (p.Ser1695Ala) c.5098T>G (p.Ser1700Ala) c.5008T>G (p.Ser1670Ala) c.5133T>G n.3296T>G c.5206T>G (p.Ser1736Ala) n.4027T>G n.2464T>G n.2435T>G n.2325T>G c.4867T>G (p.Ser1623Ala) c.*4379T>G (n.*4379T>G) c.4903T>G (p.Ser1635Ala) n.2935T>G c.1394T>G n.2327T>G c.5266T>G (p.Ser1756Ala) c.5263T>G (p.Ser1755Ala) c.5155T>G (p.Ser1719Ala) c.5134T>G (p.Ser1712Ala) c.4480T>G (p.Ser1494Ala) c.5428T>G (p.Ser1810Ala) c.5176T>G (p.Ser1726Ala) c.3922T>G (p.Ser1308Ala) | |
16 | g.2088278_2088279delinsTC | CA2202032347 | TSC2 | c.*3561_*3562delinsTC (n.*3561_*3562delinsTC) c.5059_5060delinsTC (p.Ser1687=) c.5209_5210delinsTC (p.Ser1737=) c.*5725_*5726delinsTC (n.*5725_*5726delinsTC) c.*7961_*7962delinsTC (n.*7961_*7962delinsTC) c.5212_5213delinsTC (p.Ser1738=) c.5143_5144delinsTC (p.Ser1715=) c.5011_5012delinsTC (p.Ser1671=) c.5044_5045delinsTC (p.Ser1682=) c.1435_1436delinsTC n.3094_3095delinsTC c.3866_3867delinsTC c.5071_5072delinsTC (p.Ser1691=) n.809_810delinsTC c.5014_5015delinsTC (p.Ser1672=) c.5080_5081delinsTC (p.Ser1694=) c.5005_5006delinsTC (p.Ser1669=) n.2860_2861delinsTC c.5137_5138delinsTC (p.Ser1713=) c.5083_5084delinsTC (p.Ser1695=) c.5098_5099delinsTC (p.Ser1700=) c.5008_5009delinsTC (p.Ser1670=) c.5133_5134delinsTC n.3296_3297delinsTC c.5206_5207delinsTC (p.Ser1736=) n.4027_4028delinsTC n.2464_2465delinsTC n.2435_2436delinsTC n.2325_2326delinsTC c.4867_4868delinsTC (p.Ser1623=) c.*4379_*4380delinsTC (n.*4379_*4380delinsTC) c.4903_4904delinsTC (p.Ser1635=) n.2935_2936delinsTC c.1394_1395delinsTC n.2327_2328delinsTC c.5266_5267delinsTC (p.Ser1756=) c.5263_5264delinsTC (p.Ser1755=) c.5155_5156delinsTC (p.Ser1719=) c.5134_5135delinsTC (p.Ser1712=) c.4480_4481delinsTC (p.Ser1494=) c.5428_5429delinsTC (p.Ser1810=) c.5176_5177delinsTC (p.Ser1726=) c.3922_3923delinsTC (p.Ser1308=) | |
16 | g.2088279C>A | CA394314388 | TSC2 | c.*3562C>A (n.*3562C>A) c.5060C>A (p.Ser1687Tyr) c.5210C>A (p.Ser1737Tyr) c.*5726C>A (n.*5726C>A) c.*7962C>A (n.*7962C>A) c.5213C>A (p.Ser1738Tyr) c.5144C>A (p.Ser1715Tyr) c.5012C>A (p.Ser1671Tyr) c.5045C>A (p.Ser1682Tyr) c.1436C>A n.3095C>A c.3867C>A c.5072C>A (p.Ser1691Tyr) n.810C>A c.5015C>A (p.Ser1672Tyr) c.5081C>A (p.Ser1694Tyr) c.5006C>A (p.Ser1669Tyr) n.2861C>A c.5138C>A (p.Ser1713Tyr) c.5084C>A (p.Ser1695Tyr) c.5099C>A (p.Ser1700Tyr) c.5009C>A (p.Ser1670Tyr) c.5134C>A n.3297C>A c.5207C>A (p.Ser1736Tyr) n.4028C>A n.2465C>A n.2436C>A n.2326C>A c.4868C>A (p.Ser1623Tyr) c.*4380C>A (n.*4380C>A) c.4904C>A (p.Ser1635Tyr) n.2936C>A c.1395C>A n.2328C>A c.5267C>A (p.Ser1756Tyr) c.5264C>A (p.Ser1755Tyr) c.5156C>A (p.Ser1719Tyr) c.5135C>A (p.Ser1712Tyr) c.4481C>A (p.Ser1494Tyr) c.5429C>A (p.Ser1810Tyr) c.5177C>A (p.Ser1726Tyr) c.3923C>A (p.Ser1308Tyr) | dbSNP |
16 | g.2088279C>G | CA394314391 | TSC2 | c.*3562C>G (n.*3562C>G) c.5060C>G (p.Ser1687Cys) c.5210C>G (p.Ser1737Cys) c.*5726C>G (n.*5726C>G) c.*7962C>G (n.*7962C>G) c.5213C>G (p.Ser1738Cys) c.5144C>G (p.Ser1715Cys) c.5012C>G (p.Ser1671Cys) c.5045C>G (p.Ser1682Cys) c.1436C>G n.3095C>G c.3867C>G c.5072C>G (p.Ser1691Cys) n.810C>G c.5015C>G (p.Ser1672Cys) c.5081C>G (p.Ser1694Cys) c.5006C>G (p.Ser1669Cys) n.2861C>G c.5138C>G (p.Ser1713Cys) c.5084C>G (p.Ser1695Cys) c.5099C>G (p.Ser1700Cys) c.5009C>G (p.Ser1670Cys) c.5134C>G n.3297C>G c.5207C>G (p.Ser1736Cys) n.4028C>G n.2465C>G n.2436C>G n.2326C>G c.4868C>G (p.Ser1623Cys) c.*4380C>G (n.*4380C>G) c.4904C>G (p.Ser1635Cys) n.2936C>G c.1395C>G n.2328C>G c.5267C>G (p.Ser1756Cys) c.5264C>G (p.Ser1755Cys) c.5156C>G (p.Ser1719Cys) c.5135C>G (p.Ser1712Cys) c.4481C>G (p.Ser1494Cys) c.5429C>G (p.Ser1810Cys) c.5177C>G (p.Ser1726Cys) c.3923C>G (p.Ser1308Cys) | ClinVar dbSNP |
16 | g.2088279C>T | CA394314394 | TSC2 | c.*3562C>T (n.*3562C>T) c.5060C>T (p.Ser1687Phe) c.5210C>T (p.Ser1737Phe) c.*5726C>T (n.*5726C>T) c.*7962C>T (n.*7962C>T) c.5213C>T (p.Ser1738Phe) c.5144C>T (p.Ser1715Phe) c.5012C>T (p.Ser1671Phe) c.5045C>T (p.Ser1682Phe) c.1436C>T n.3095C>T c.3867C>T c.5072C>T (p.Ser1691Phe) n.810C>T c.5015C>T (p.Ser1672Phe) c.5081C>T (p.Ser1694Phe) c.5006C>T (p.Ser1669Phe) n.2861C>T c.5138C>T (p.Ser1713Phe) c.5084C>T (p.Ser1695Phe) c.5099C>T (p.Ser1700Phe) c.5009C>T (p.Ser1670Phe) c.5134C>T n.3297C>T c.5207C>T (p.Ser1736Phe) n.4028C>T n.2465C>T n.2436C>T n.2326C>T c.4868C>T (p.Ser1623Phe) c.*4380C>T (n.*4380C>T) c.4904C>T (p.Ser1635Phe) n.2936C>T c.1395C>T n.2328C>T c.5267C>T (p.Ser1756Phe) c.5264C>T (p.Ser1755Phe) c.5156C>T (p.Ser1719Phe) c.5135C>T (p.Ser1712Phe) c.4481C>T (p.Ser1494Phe) c.5429C>T (p.Ser1810Phe) c.5177C>T (p.Ser1726Phe) c.3923C>T (p.Ser1308Phe) | dbSNP |
16 | g.2088280dup | CA022161 | TSC2 | c.*3563dup (n.*3563dup) c.5061dup (p.Lys1688GlnfsTer?) c.5211dup (p.Lys1738GlnfsTer?) c.*5727dup (n.*5727dup) c.*7963dup (n.*7963dup) c.5214dup (p.Lys1739GlnfsTer?) c.5145dup (p.Lys1716GlnfsTer?) c.5013dup (p.Lys1672GlnfsTer?) c.5046dup (p.Lys1683GlnfsTer?) c.1437dup n.3096dup c.3868dup c.5073dup (p.Lys1692GlnfsTer?) n.811dup c.5016dup (p.Lys1673GlnfsTer?) c.5082dup (p.Lys1695GlnfsTer?) c.5007dup (p.Lys1670GlnfsTer?) n.2862dup c.5139dup (p.Lys1714GlnfsTer?) c.5085dup (p.Lys1696GlnfsTer?) c.5100dup (p.Lys1701GlnfsTer?) c.5010dup (p.Lys1671GlnfsTer?) c.5135dup n.3298dup c.5208dup (p.Lys1737GlnfsTer?) n.4029dup n.2466dup n.2437dup n.2327dup c.4869dup (p.Lys1624GlnfsTer?) c.*4381dup (n.*4381dup) c.4905dup (p.Lys1636GlnfsTer?) n.2937dup c.1396dup n.2329dup c.5268dup (p.Lys1757GlnfsTer?) c.5265dup (p.Lys1756GlnfsTer?) c.5157dup (p.Lys1720GlnfsTer?) c.5136dup (p.Lys1713GlnfsTer?) c.4482dup (p.Lys1495GlnfsTer?) c.5430dup (p.Lys1811GlnfsTer?) c.5178dup (p.Lys1727GlnfsTer?) c.3924dup (p.Lys1309GlnfsTer?) | ClinVar dbSNP |
16 | g.2088280del | CA16620105 | TSC2 | c.*3563del (n.*3563del) c.5061del (p.Lys1688SerfsTer?) c.5211del (p.Lys1738SerfsTer?) c.*5727del (n.*5727del) c.*7963del (n.*7963del) c.5214del (p.Lys1739SerfsTer?) c.5145del (p.Lys1716SerfsTer?) c.5013del (p.Lys1672SerfsTer?) c.5046del (p.Lys1683SerfsTer?) c.1437del n.3096del c.3868del c.5073del (p.Lys1692SerfsTer?) n.811del c.5016del (p.Lys1673SerfsTer?) c.5082del (p.Lys1695SerfsTer?) c.5007del (p.Lys1670SerfsTer?) n.2862del c.5139del (p.Lys1714SerfsTer?) c.5085del (p.Lys1696SerfsTer?) c.5100del (p.Lys1701SerfsTer?) c.5010del (p.Lys1671SerfsTer?) c.5135del n.3298del c.5208del (p.Lys1737SerfsTer?) n.4029del n.2466del n.2437del n.2327del c.4869del (p.Lys1624SerfsTer?) c.*4381del (n.*4381del) c.4905del (p.Lys1636SerfsTer?) n.2937del c.1396del n.2329del c.5268del (p.Lys1757SerfsTer?) c.5265del (p.Lys1756SerfsTer?) c.5157del (p.Lys1720SerfsTer?) c.5136del (p.Lys1713SerfsTer?) c.4482del (p.Lys1495SerfsTer?) c.5430del (p.Lys1811SerfsTer?) c.5178del (p.Lys1727SerfsTer?) c.3924del (p.Lys1309SerfsTer?) | ClinVar dbSNP |
16 | g.2088280C>A | CA493043793 | TSC2 | c.*3563C>A (n.*3563C>A) c.5061C>A (p.Ser1687=) c.5211C>A (p.Ser1737=) c.*5727C>A (n.*5727C>A) c.*7963C>A (n.*7963C>A) c.5214C>A (p.Ser1738=) c.5145C>A (p.Ser1715=) c.5013C>A (p.Ser1671=) c.5046C>A (p.Ser1682=) c.1437C>A n.3096C>A c.3868C>A c.5073C>A (p.Ser1691=) n.811C>A c.5016C>A (p.Ser1672=) c.5082C>A (p.Ser1694=) c.5007C>A (p.Ser1669=) n.2862C>A c.5139C>A (p.Ser1713=) c.5085C>A (p.Ser1695=) c.5100C>A (p.Ser1700=) c.5010C>A (p.Ser1670=) c.5135C>A n.3298C>A c.5208C>A (p.Ser1736=) n.4029C>A n.2466C>A n.2437C>A n.2327C>A c.4869C>A (p.Ser1623=) c.*4381C>A (n.*4381C>A) c.4905C>A (p.Ser1635=) n.2937C>A c.1396C>A n.2329C>A c.5268C>A (p.Ser1756=) c.5265C>A (p.Ser1755=) c.5157C>A (p.Ser1719=) c.5136C>A (p.Ser1712=) c.4482C>A (p.Ser1494=) c.5430C>A (p.Ser1810=) c.5178C>A (p.Ser1726=) c.3924C>A (p.Ser1308=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088280C= | CA2202032369 | TSC2 | c.*3563C= (n.*3563C=) c.5061C= (p.Ser1687=) c.5211C= (p.Ser1737=) c.*5727C= (n.*5727C=) c.*7963C= (n.*7963C=) c.5214C= (p.Ser1738=) c.5145C= (p.Ser1715=) c.5013C= (p.Ser1671=) c.5046C= (p.Ser1682=) c.1437C= n.3096C= c.3868C= c.5073C= (p.Ser1691=) n.811C= c.5016C= (p.Ser1672=) c.5082C= (p.Ser1694=) c.5007C= (p.Ser1669=) n.2862C= c.5139C= (p.Ser1713=) c.5085C= (p.Ser1695=) c.5100C= (p.Ser1700=) c.5010C= (p.Ser1670=) c.5135C= n.3298C= c.5208C= (p.Ser1736=) n.4029C= n.2466C= n.2437C= n.2327C= c.4869C= (p.Ser1623=) c.*4381C= (n.*4381C=) c.4905C= (p.Ser1635=) n.2937C= c.1396C= n.2329C= c.5268C= (p.Ser1756=) c.5265C= (p.Ser1755=) c.5157C= (p.Ser1719=) c.5136C= (p.Ser1712=) c.4482C= (p.Ser1494=) c.5430C= (p.Ser1810=) c.5178C= (p.Ser1726=) c.3924C= (p.Ser1308=) | |
16 | g.2088280C>G | CA493043794 | TSC2 | c.*3563C>G (n.*3563C>G) c.5061C>G (p.Ser1687=) c.5211C>G (p.Ser1737=) c.*5727C>G (n.*5727C>G) c.*7963C>G (n.*7963C>G) c.5214C>G (p.Ser1738=) c.5145C>G (p.Ser1715=) c.5013C>G (p.Ser1671=) c.5046C>G (p.Ser1682=) c.1437C>G n.3096C>G c.3868C>G c.5073C>G (p.Ser1691=) n.811C>G c.5016C>G (p.Ser1672=) c.5082C>G (p.Ser1694=) c.5007C>G (p.Ser1669=) n.2862C>G c.5139C>G (p.Ser1713=) c.5085C>G (p.Ser1695=) c.5100C>G (p.Ser1700=) c.5010C>G (p.Ser1670=) c.5135C>G n.3298C>G c.5208C>G (p.Ser1736=) n.4029C>G n.2466C>G n.2437C>G n.2327C>G c.4869C>G (p.Ser1623=) c.*4381C>G (n.*4381C>G) c.4905C>G (p.Ser1635=) n.2937C>G c.1396C>G n.2329C>G c.5268C>G (p.Ser1756=) c.5265C>G (p.Ser1755=) c.5157C>G (p.Ser1719=) c.5136C>G (p.Ser1712=) c.4482C>G (p.Ser1494=) c.5430C>G (p.Ser1810=) c.5178C>G (p.Ser1726=) c.3924C>G (p.Ser1308=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088280C>T | CA054477 | TSC2 | c.*3563C>T (n.*3563C>T) c.5061C>T (p.Ser1687=) c.5211C>T (p.Ser1737=) c.*5727C>T (n.*5727C>T) c.*7963C>T (n.*7963C>T) c.5214C>T (p.Ser1738=) c.5145C>T (p.Ser1715=) c.5013C>T (p.Ser1671=) c.5046C>T (p.Ser1682=) c.1437C>T n.3096C>T c.3868C>T c.5073C>T (p.Ser1691=) n.811C>T c.5016C>T (p.Ser1672=) c.5082C>T (p.Ser1694=) c.5007C>T (p.Ser1669=) n.2862C>T c.5139C>T (p.Ser1713=) c.5085C>T (p.Ser1695=) c.5100C>T (p.Ser1700=) c.5010C>T (p.Ser1670=) c.5135C>T n.3298C>T c.5208C>T (p.Ser1736=) n.4029C>T n.2466C>T n.2437C>T n.2327C>T c.4869C>T (p.Ser1623=) c.*4381C>T (n.*4381C>T) c.4905C>T (p.Ser1635=) n.2937C>T c.1396C>T n.2329C>T c.5268C>T (p.Ser1756=) c.5265C>T (p.Ser1755=) c.5157C>T (p.Ser1719=) c.5136C>T (p.Ser1712=) c.4482C>T (p.Ser1494=) c.5430C>T (p.Ser1810=) c.5178C>T (p.Ser1726=) c.3924C>T (p.Ser1308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088281A>C | CA394314407 | TSC2 | c.*3564A>C (n.*3564A>C) c.5062A>C (p.Lys1688Gln) c.5212A>C (p.Lys1738Gln) c.*5728A>C (n.*5728A>C) c.*7964A>C (n.*7964A>C) c.5215A>C (p.Lys1739Gln) c.5146A>C (p.Lys1716Gln) c.5014A>C (p.Lys1672Gln) c.5047A>C (p.Lys1683Gln) c.1438A>C n.3097A>C c.3869A>C c.5074A>C (p.Lys1692Gln) n.812A>C c.5017A>C (p.Lys1673Gln) c.5083A>C (p.Lys1695Gln) c.5008A>C (p.Lys1670Gln) n.2863A>C c.5140A>C (p.Lys1714Gln) c.5086A>C (p.Lys1696Gln) c.5101A>C (p.Lys1701Gln) c.5011A>C (p.Lys1671Gln) c.5136A>C n.3299A>C c.5209A>C (p.Lys1737Gln) n.4030A>C n.2467A>C n.2438A>C n.2328A>C c.4870A>C (p.Lys1624Gln) c.*4382A>C (n.*4382A>C) c.4906A>C (p.Lys1636Gln) n.2938A>C c.1397A>C n.2330A>C c.5269A>C (p.Lys1757Gln) c.5266A>C (p.Lys1756Gln) c.5158A>C (p.Lys1720Gln) c.5137A>C (p.Lys1713Gln) c.4483A>C (p.Lys1495Gln) c.5431A>C (p.Lys1811Gln) c.5179A>C (p.Lys1727Gln) c.3925A>C (p.Lys1309Gln) | |
16 | g.2088281A>G | CA394314411 | TSC2 | c.*3564A>G (n.*3564A>G) c.5062A>G (p.Lys1688Glu) c.5212A>G (p.Lys1738Glu) c.*5728A>G (n.*5728A>G) c.*7964A>G (n.*7964A>G) c.5215A>G (p.Lys1739Glu) c.5146A>G (p.Lys1716Glu) c.5014A>G (p.Lys1672Glu) c.5047A>G (p.Lys1683Glu) c.1438A>G n.3097A>G c.3869A>G c.5074A>G (p.Lys1692Glu) n.812A>G c.5017A>G (p.Lys1673Glu) c.5083A>G (p.Lys1695Glu) c.5008A>G (p.Lys1670Glu) n.2863A>G c.5140A>G (p.Lys1714Glu) c.5086A>G (p.Lys1696Glu) c.5101A>G (p.Lys1701Glu) c.5011A>G (p.Lys1671Glu) c.5136A>G n.3299A>G c.5209A>G (p.Lys1737Glu) n.4030A>G n.2467A>G n.2438A>G n.2328A>G c.4870A>G (p.Lys1624Glu) c.*4382A>G (n.*4382A>G) c.4906A>G (p.Lys1636Glu) n.2938A>G c.1397A>G n.2330A>G c.5269A>G (p.Lys1757Glu) c.5266A>G (p.Lys1756Glu) c.5158A>G (p.Lys1720Glu) c.5137A>G (p.Lys1713Glu) c.4483A>G (p.Lys1495Glu) c.5431A>G (p.Lys1811Glu) c.5179A>G (p.Lys1727Glu) c.3925A>G (p.Lys1309Glu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088281A>T | CA394314414 | TSC2 | c.*3564A>T (n.*3564A>T) c.5062A>T (p.Lys1688Ter) c.5212A>T (p.Lys1738Ter) c.*5728A>T (n.*5728A>T) c.*7964A>T (n.*7964A>T) c.5215A>T (p.Lys1739Ter) c.5146A>T (p.Lys1716Ter) c.5014A>T (p.Lys1672Ter) c.5047A>T (p.Lys1683Ter) c.1438A>T n.3097A>T c.3869A>T c.5074A>T (p.Lys1692Ter) n.812A>T c.5017A>T (p.Lys1673Ter) c.5083A>T (p.Lys1695Ter) c.5008A>T (p.Lys1670Ter) n.2863A>T c.5140A>T (p.Lys1714Ter) c.5086A>T (p.Lys1696Ter) c.5101A>T (p.Lys1701Ter) c.5011A>T (p.Lys1671Ter) c.5136A>T n.3299A>T c.5209A>T (p.Lys1737Ter) n.4030A>T n.2467A>T n.2438A>T n.2328A>T c.4870A>T (p.Lys1624Ter) c.*4382A>T (n.*4382A>T) c.4906A>T (p.Lys1636Ter) n.2938A>T c.1397A>T n.2330A>T c.5269A>T (p.Lys1757Ter) c.5266A>T (p.Lys1756Ter) c.5158A>T (p.Lys1720Ter) c.5137A>T (p.Lys1713Ter) c.4483A>T (p.Lys1495Ter) c.5431A>T (p.Lys1811Ter) c.5179A>T (p.Lys1727Ter) c.3925A>T (p.Lys1309Ter) | dbSNP |
16 | g.2088282A>C | CA394314418 | TSC2 | c.*3565A>C (n.*3565A>C) c.5063A>C (p.Lys1688Thr) c.5213A>C (p.Lys1738Thr) c.*5729A>C (n.*5729A>C) c.*7965A>C (n.*7965A>C) c.5216A>C (p.Lys1739Thr) c.5147A>C (p.Lys1716Thr) c.5015A>C (p.Lys1672Thr) c.5048A>C (p.Lys1683Thr) c.1439A>C n.3098A>C c.3870A>C c.5075A>C (p.Lys1692Thr) n.813A>C c.5018A>C (p.Lys1673Thr) c.5084A>C (p.Lys1695Thr) c.5009A>C (p.Lys1670Thr) n.2864A>C c.5141A>C (p.Lys1714Thr) c.5087A>C (p.Lys1696Thr) c.5102A>C (p.Lys1701Thr) c.5012A>C (p.Lys1671Thr) c.5137A>C n.3300A>C c.5210A>C (p.Lys1737Thr) n.4031A>C n.2468A>C n.2439A>C n.2329A>C c.4871A>C (p.Lys1624Thr) c.*4383A>C (n.*4383A>C) c.4907A>C (p.Lys1636Thr) n.2939A>C c.1398A>C n.2331A>C c.5270A>C (p.Lys1757Thr) c.5267A>C (p.Lys1756Thr) c.5159A>C (p.Lys1720Thr) c.5138A>C (p.Lys1713Thr) c.4484A>C (p.Lys1495Thr) c.5432A>C (p.Lys1811Thr) c.5180A>C (p.Lys1727Thr) c.3926A>C (p.Lys1309Thr) | ClinVar dbSNP |
16 | g.2088282A>G | CA394314420 | TSC2 | c.*3565A>G (n.*3565A>G) c.5063A>G (p.Lys1688Arg) c.5213A>G (p.Lys1738Arg) c.*5729A>G (n.*5729A>G) c.*7965A>G (n.*7965A>G) c.5216A>G (p.Lys1739Arg) c.5147A>G (p.Lys1716Arg) c.5015A>G (p.Lys1672Arg) c.5048A>G (p.Lys1683Arg) c.1439A>G n.3098A>G c.3870A>G c.5075A>G (p.Lys1692Arg) n.813A>G c.5018A>G (p.Lys1673Arg) c.5084A>G (p.Lys1695Arg) c.5009A>G (p.Lys1670Arg) n.2864A>G c.5141A>G (p.Lys1714Arg) c.5087A>G (p.Lys1696Arg) c.5102A>G (p.Lys1701Arg) c.5012A>G (p.Lys1671Arg) c.5137A>G n.3300A>G c.5210A>G (p.Lys1737Arg) n.4031A>G n.2468A>G n.2439A>G n.2329A>G c.4871A>G (p.Lys1624Arg) c.*4383A>G (n.*4383A>G) c.4907A>G (p.Lys1636Arg) n.2939A>G c.1398A>G n.2331A>G c.5270A>G (p.Lys1757Arg) c.5267A>G (p.Lys1756Arg) c.5159A>G (p.Lys1720Arg) c.5138A>G (p.Lys1713Arg) c.4484A>G (p.Lys1495Arg) c.5432A>G (p.Lys1811Arg) c.5180A>G (p.Lys1727Arg) c.3926A>G (p.Lys1309Arg) | gnomAD v4 |
16 | g.2088282A>T | CA394314421 | TSC2 | c.*3565A>T (n.*3565A>T) c.5063A>T (p.Lys1688Met) c.5213A>T (p.Lys1738Met) c.*5729A>T (n.*5729A>T) c.*7965A>T (n.*7965A>T) c.5216A>T (p.Lys1739Met) c.5147A>T (p.Lys1716Met) c.5015A>T (p.Lys1672Met) c.5048A>T (p.Lys1683Met) c.1439A>T n.3098A>T c.3870A>T c.5075A>T (p.Lys1692Met) n.813A>T c.5018A>T (p.Lys1673Met) c.5084A>T (p.Lys1695Met) c.5009A>T (p.Lys1670Met) n.2864A>T c.5141A>T (p.Lys1714Met) c.5087A>T (p.Lys1696Met) c.5102A>T (p.Lys1701Met) c.5012A>T (p.Lys1671Met) c.5137A>T n.3300A>T c.5210A>T (p.Lys1737Met) n.4031A>T n.2468A>T n.2439A>T n.2329A>T c.4871A>T (p.Lys1624Met) c.*4383A>T (n.*4383A>T) c.4907A>T (p.Lys1636Met) n.2939A>T c.1398A>T n.2331A>T c.5270A>T (p.Lys1757Met) c.5267A>T (p.Lys1756Met) c.5159A>T (p.Lys1720Met) c.5138A>T (p.Lys1713Met) c.4484A>T (p.Lys1495Met) c.5432A>T (p.Lys1811Met) c.5180A>T (p.Lys1727Met) c.3926A>T (p.Lys1309Met) | dbSNP |
16 | g.2088283G>A | CA493043800 | TSC2 | c.*3566G>A (n.*3566G>A) c.5064G>A (p.Lys1688=) c.5214G>A (p.Lys1738=) c.*5730G>A (n.*5730G>A) c.*7966G>A (n.*7966G>A) c.5217G>A (p.Lys1739=) c.5148G>A (p.Lys1716=) c.5016G>A (p.Lys1672=) c.5049G>A (p.Lys1683=) c.1440G>A n.3099G>A c.3871G>A c.5076G>A (p.Lys1692=) n.814G>A c.5019G>A (p.Lys1673=) c.5085G>A (p.Lys1695=) c.5010G>A (p.Lys1670=) n.2865G>A c.5142G>A (p.Lys1714=) c.5088G>A (p.Lys1696=) c.5103G>A (p.Lys1701=) c.5013G>A (p.Lys1671=) c.5138G>A n.3301G>A c.5211G>A (p.Lys1737=) n.4032G>A n.2469G>A n.2440G>A n.2330G>A c.4872G>A (p.Lys1624=) c.*4384G>A (n.*4384G>A) c.4908G>A (p.Lys1636=) n.2940G>A c.1399G>A n.2332G>A c.5271G>A (p.Lys1757=) c.5268G>A (p.Lys1756=) c.5160G>A (p.Lys1720=) c.5139G>A (p.Lys1713=) c.4485G>A (p.Lys1495=) c.5433G>A (p.Lys1811=) c.5181G>A (p.Lys1727=) c.3927G>A (p.Lys1309=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088283G>C | CA394314423 | TSC2 | c.*3566G>C (n.*3566G>C) c.5064G>C (p.Lys1688Asn) c.5214G>C (p.Lys1738Asn) c.*5730G>C (n.*5730G>C) c.*7966G>C (n.*7966G>C) c.5217G>C (p.Lys1739Asn) c.5148G>C (p.Lys1716Asn) c.5016G>C (p.Lys1672Asn) c.5049G>C (p.Lys1683Asn) c.1440G>C n.3099G>C c.3871G>C c.5076G>C (p.Lys1692Asn) n.814G>C c.5019G>C (p.Lys1673Asn) c.5085G>C (p.Lys1695Asn) c.5010G>C (p.Lys1670Asn) n.2865G>C c.5142G>C (p.Lys1714Asn) c.5088G>C (p.Lys1696Asn) c.5103G>C (p.Lys1701Asn) c.5013G>C (p.Lys1671Asn) c.5138G>C n.3301G>C c.5211G>C (p.Lys1737Asn) n.4032G>C n.2469G>C n.2440G>C n.2330G>C c.4872G>C (p.Lys1624Asn) c.*4384G>C (n.*4384G>C) c.4908G>C (p.Lys1636Asn) n.2940G>C c.1399G>C n.2332G>C c.5271G>C (p.Lys1757Asn) c.5268G>C (p.Lys1756Asn) c.5160G>C (p.Lys1720Asn) c.5139G>C (p.Lys1713Asn) c.4485G>C (p.Lys1495Asn) c.5433G>C (p.Lys1811Asn) c.5181G>C (p.Lys1727Asn) c.3927G>C (p.Lys1309Asn) | dbSNP |
16 | g.2088283G= | CA2202032378 | TSC2 | c.*3566G= (n.*3566G=) c.5064G= (p.Lys1688=) c.5214G= (p.Lys1738=) c.*5730G= (n.*5730G=) c.*7966G= (n.*7966G=) c.5217G= (p.Lys1739=) c.5148G= (p.Lys1716=) c.5016G= (p.Lys1672=) c.5049G= (p.Lys1683=) c.1440G= n.3099G= c.3871G= c.5076G= (p.Lys1692=) n.814G= c.5019G= (p.Lys1673=) c.5085G= (p.Lys1695=) c.5010G= (p.Lys1670=) n.2865G= c.5142G= (p.Lys1714=) c.5088G= (p.Lys1696=) c.5103G= (p.Lys1701=) c.5013G= (p.Lys1671=) c.5138G= n.3301G= c.5211G= (p.Lys1737=) n.4032G= n.2469G= n.2440G= n.2330G= c.4872G= (p.Lys1624=) c.*4384G= (n.*4384G=) c.4908G= (p.Lys1636=) n.2940G= c.1399G= n.2332G= c.5271G= (p.Lys1757=) c.5268G= (p.Lys1756=) c.5160G= (p.Lys1720=) c.5139G= (p.Lys1713=) c.4485G= (p.Lys1495=) c.5433G= (p.Lys1811=) c.5181G= (p.Lys1727=) c.3927G= (p.Lys1309=) | |
16 | g.2088283G>T | CA394314426 | TSC2 | c.*3566G>T (n.*3566G>T) c.5064G>T (p.Lys1688Asn) c.5214G>T (p.Lys1738Asn) c.*5730G>T (n.*5730G>T) c.*7966G>T (n.*7966G>T) c.5217G>T (p.Lys1739Asn) c.5148G>T (p.Lys1716Asn) c.5016G>T (p.Lys1672Asn) c.5049G>T (p.Lys1683Asn) c.1440G>T n.3099G>T c.3871G>T c.5076G>T (p.Lys1692Asn) n.814G>T c.5019G>T (p.Lys1673Asn) c.5085G>T (p.Lys1695Asn) c.5010G>T (p.Lys1670Asn) n.2865G>T c.5142G>T (p.Lys1714Asn) c.5088G>T (p.Lys1696Asn) c.5103G>T (p.Lys1701Asn) c.5013G>T (p.Lys1671Asn) c.5138G>T n.3301G>T c.5211G>T (p.Lys1737Asn) n.4032G>T n.2469G>T n.2440G>T n.2330G>T c.4872G>T (p.Lys1624Asn) c.*4384G>T (n.*4384G>T) c.4908G>T (p.Lys1636Asn) n.2940G>T c.1399G>T n.2332G>T c.5271G>T (p.Lys1757Asn) c.5268G>T (p.Lys1756Asn) c.5160G>T (p.Lys1720Asn) c.5139G>T (p.Lys1713Asn) c.4485G>T (p.Lys1495Asn) c.5433G>T (p.Lys1811Asn) c.5181G>T (p.Lys1727Asn) c.3927G>T (p.Lys1309Asn) | |
16 | g.2088284T>A | CA394314451 | TSC2 | c.*3567T>A (n.*3567T>A) c.5065T>A (p.Trp1689Arg) c.5215T>A (p.Trp1739Arg) c.*5731T>A (n.*5731T>A) c.*7967T>A (n.*7967T>A) c.5218T>A (p.Trp1740Arg) c.5149T>A (p.Trp1717Arg) c.5017T>A (p.Trp1673Arg) c.5050T>A (p.Trp1684Arg) c.1441T>A n.3100T>A c.3872T>A c.5077T>A (p.Trp1693Arg) n.815T>A c.5020T>A (p.Trp1674Arg) c.5086T>A (p.Trp1696Arg) c.5011T>A (p.Trp1671Arg) n.2866T>A c.5143T>A (p.Trp1715Arg) c.5089T>A (p.Trp1697Arg) c.5104T>A (p.Trp1702Arg) c.5014T>A (p.Trp1672Arg) c.5139T>A n.3302T>A c.5212T>A (p.Trp1738Arg) n.4033T>A n.2470T>A n.2441T>A n.2331T>A c.4873T>A (p.Trp1625Arg) c.*4385T>A (n.*4385T>A) c.4909T>A (p.Trp1637Arg) n.2941T>A c.1400T>A n.2333T>A c.5272T>A (p.Trp1758Arg) c.5269T>A (p.Trp1757Arg) c.5161T>A (p.Trp1721Arg) c.5140T>A (p.Trp1714Arg) c.4486T>A (p.Trp1496Arg) c.5434T>A (p.Trp1812Arg) c.5182T>A (p.Trp1728Arg) c.3928T>A (p.Trp1310Arg) | |
16 | g.2088284T>C | CA394314456 | TSC2 | c.*3567T>C (n.*3567T>C) c.5065T>C (p.Trp1689Arg) c.5215T>C (p.Trp1739Arg) c.*5731T>C (n.*5731T>C) c.*7967T>C (n.*7967T>C) c.5218T>C (p.Trp1740Arg) c.5149T>C (p.Trp1717Arg) c.5017T>C (p.Trp1673Arg) c.5050T>C (p.Trp1684Arg) c.1441T>C n.3100T>C c.3872T>C c.5077T>C (p.Trp1693Arg) n.815T>C c.5020T>C (p.Trp1674Arg) c.5086T>C (p.Trp1696Arg) c.5011T>C (p.Trp1671Arg) n.2866T>C c.5143T>C (p.Trp1715Arg) c.5089T>C (p.Trp1697Arg) c.5104T>C (p.Trp1702Arg) c.5014T>C (p.Trp1672Arg) c.5139T>C n.3302T>C c.5212T>C (p.Trp1738Arg) n.4033T>C n.2470T>C n.2441T>C n.2331T>C c.4873T>C (p.Trp1625Arg) c.*4385T>C (n.*4385T>C) c.4909T>C (p.Trp1637Arg) n.2941T>C c.1400T>C n.2333T>C c.5272T>C (p.Trp1758Arg) c.5269T>C (p.Trp1757Arg) c.5161T>C (p.Trp1721Arg) c.5140T>C (p.Trp1714Arg) c.4486T>C (p.Trp1496Arg) c.5434T>C (p.Trp1812Arg) c.5182T>C (p.Trp1728Arg) c.3928T>C (p.Trp1310Arg) | |
16 | g.2088284T>G | CA394314449 | TSC2 | c.*3567T>G (n.*3567T>G) c.5065T>G (p.Trp1689Gly) c.5215T>G (p.Trp1739Gly) c.*5731T>G (n.*5731T>G) c.*7967T>G (n.*7967T>G) c.5218T>G (p.Trp1740Gly) c.5149T>G (p.Trp1717Gly) c.5017T>G (p.Trp1673Gly) c.5050T>G (p.Trp1684Gly) c.1441T>G n.3100T>G c.3872T>G c.5077T>G (p.Trp1693Gly) n.815T>G c.5020T>G (p.Trp1674Gly) c.5086T>G (p.Trp1696Gly) c.5011T>G (p.Trp1671Gly) n.2866T>G c.5143T>G (p.Trp1715Gly) c.5089T>G (p.Trp1697Gly) c.5104T>G (p.Trp1702Gly) c.5014T>G (p.Trp1672Gly) c.5139T>G n.3302T>G c.5212T>G (p.Trp1738Gly) n.4033T>G n.2470T>G n.2441T>G n.2331T>G c.4873T>G (p.Trp1625Gly) c.*4385T>G (n.*4385T>G) c.4909T>G (p.Trp1637Gly) n.2941T>G c.1400T>G n.2333T>G c.5272T>G (p.Trp1758Gly) c.5269T>G (p.Trp1757Gly) c.5161T>G (p.Trp1721Gly) c.5140T>G (p.Trp1714Gly) c.4486T>G (p.Trp1496Gly) c.5434T>G (p.Trp1812Gly) c.5182T>G (p.Trp1728Gly) c.3928T>G (p.Trp1310Gly) | |
16 | g.2088285G>A | CA022169 | TSC2 | c.*3568G>A (n.*3568G>A) c.5066G>A (p.Trp1689Ter) c.5216G>A (p.Trp1739Ter) c.*5732G>A (n.*5732G>A) c.*7968G>A (n.*7968G>A) c.5219G>A (p.Trp1740Ter) c.5150G>A (p.Trp1717Ter) c.5018G>A (p.Trp1673Ter) c.5051G>A (p.Trp1684Ter) c.1442G>A n.3101G>A c.3873G>A c.5078G>A (p.Trp1693Ter) n.816G>A c.5021G>A (p.Trp1674Ter) c.5087G>A (p.Trp1696Ter) c.5012G>A (p.Trp1671Ter) n.2867G>A c.5144G>A (p.Trp1715Ter) c.5090G>A (p.Trp1697Ter) c.5105G>A (p.Trp1702Ter) c.5015G>A (p.Trp1672Ter) c.5140G>A n.3303G>A c.5213G>A (p.Trp1738Ter) n.4034G>A n.2471G>A n.2442G>A n.2332G>A c.4874G>A (p.Trp1625Ter) c.*4386G>A (n.*4386G>A) c.4910G>A (p.Trp1637Ter) n.2942G>A c.1401G>A n.2334G>A c.5273G>A (p.Trp1758Ter) c.5270G>A (p.Trp1757Ter) c.5162G>A (p.Trp1721Ter) c.5141G>A (p.Trp1714Ter) c.4487G>A (p.Trp1496Ter) c.5435G>A (p.Trp1812Ter) c.5183G>A (p.Trp1728Ter) c.3929G>A (p.Trp1310Ter) | ClinVar dbSNP |
16 | g.2088285G>C | CA394314459 | TSC2 | c.*3568G>C (n.*3568G>C) c.5066G>C (p.Trp1689Ser) c.5216G>C (p.Trp1739Ser) c.*5732G>C (n.*5732G>C) c.*7968G>C (n.*7968G>C) c.5219G>C (p.Trp1740Ser) c.5150G>C (p.Trp1717Ser) c.5018G>C (p.Trp1673Ser) c.5051G>C (p.Trp1684Ser) c.1442G>C n.3101G>C c.3873G>C c.5078G>C (p.Trp1693Ser) n.816G>C c.5021G>C (p.Trp1674Ser) c.5087G>C (p.Trp1696Ser) c.5012G>C (p.Trp1671Ser) n.2867G>C c.5144G>C (p.Trp1715Ser) c.5090G>C (p.Trp1697Ser) c.5105G>C (p.Trp1702Ser) c.5015G>C (p.Trp1672Ser) c.5140G>C n.3303G>C c.5213G>C (p.Trp1738Ser) n.4034G>C n.2471G>C n.2442G>C n.2332G>C c.4874G>C (p.Trp1625Ser) c.*4386G>C (n.*4386G>C) c.4910G>C (p.Trp1637Ser) n.2942G>C c.1401G>C n.2334G>C c.5273G>C (p.Trp1758Ser) c.5270G>C (p.Trp1757Ser) c.5162G>C (p.Trp1721Ser) c.5141G>C (p.Trp1714Ser) c.4487G>C (p.Trp1496Ser) c.5435G>C (p.Trp1812Ser) c.5183G>C (p.Trp1728Ser) c.3929G>C (p.Trp1310Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088285G= | CA2202032389 | TSC2 | c.*3568G= (n.*3568G=) c.5066G= (p.Trp1689=) c.5216G= (p.Trp1739=) c.*5732G= (n.*5732G=) c.*7968G= (n.*7968G=) c.5219G= (p.Trp1740=) c.5150G= (p.Trp1717=) c.5018G= (p.Trp1673=) c.5051G= (p.Trp1684=) c.1442G= n.3101G= c.3873G= c.5078G= (p.Trp1693=) n.816G= c.5021G= (p.Trp1674=) c.5087G= (p.Trp1696=) c.5012G= (p.Trp1671=) n.2867G= c.5144G= (p.Trp1715=) c.5090G= (p.Trp1697=) c.5105G= (p.Trp1702=) c.5015G= (p.Trp1672=) c.5140G= n.3303G= c.5213G= (p.Trp1738=) n.4034G= n.2471G= n.2442G= n.2332G= c.4874G= (p.Trp1625=) c.*4386G= (n.*4386G=) c.4910G= (p.Trp1637=) n.2942G= c.1401G= n.2334G= c.5273G= (p.Trp1758=) c.5270G= (p.Trp1757=) c.5162G= (p.Trp1721=) c.5141G= (p.Trp1714=) c.4487G= (p.Trp1496=) c.5435G= (p.Trp1812=) c.5183G= (p.Trp1728=) c.3929G= (p.Trp1310=) | |
16 | g.2088285G>T | CA394314460 | TSC2 | c.*3568G>T (n.*3568G>T) c.5066G>T (p.Trp1689Leu) c.5216G>T (p.Trp1739Leu) c.*5732G>T (n.*5732G>T) c.*7968G>T (n.*7968G>T) c.5219G>T (p.Trp1740Leu) c.5150G>T (p.Trp1717Leu) c.5018G>T (p.Trp1673Leu) c.5051G>T (p.Trp1684Leu) c.1442G>T n.3101G>T c.3873G>T c.5078G>T (p.Trp1693Leu) n.816G>T c.5021G>T (p.Trp1674Leu) c.5087G>T (p.Trp1696Leu) c.5012G>T (p.Trp1671Leu) n.2867G>T c.5144G>T (p.Trp1715Leu) c.5090G>T (p.Trp1697Leu) c.5105G>T (p.Trp1702Leu) c.5015G>T (p.Trp1672Leu) c.5140G>T n.3303G>T c.5213G>T (p.Trp1738Leu) n.4034G>T n.2471G>T n.2442G>T n.2332G>T c.4874G>T (p.Trp1625Leu) c.*4386G>T (n.*4386G>T) c.4910G>T (p.Trp1637Leu) n.2942G>T c.1401G>T n.2334G>T c.5273G>T (p.Trp1758Leu) c.5270G>T (p.Trp1757Leu) c.5162G>T (p.Trp1721Leu) c.5141G>T (p.Trp1714Leu) c.4487G>T (p.Trp1496Leu) c.5435G>T (p.Trp1812Leu) c.5183G>T (p.Trp1728Leu) c.3929G>T (p.Trp1310Leu) | dbSNP |
16 | g.2088286dup | CA2697549442 | TSC2 | c.*3569dup (n.*3569dup) c.5067dup (p.Ile1690AspfsTer?) c.5217dup (p.Ile1740AspfsTer?) c.*5733dup (n.*5733dup) c.*7969dup (n.*7969dup) c.5220dup (p.Ile1741AspfsTer?) c.5151dup (p.Ile1718AspfsTer?) c.5019dup (p.Ile1674AspfsTer?) c.5052dup (p.Ile1685AspfsTer?) c.1443dup n.3102dup c.3874dup c.5079dup (p.Ile1694AspfsTer?) n.817dup c.5022dup (p.Ile1675AspfsTer?) c.5088dup (p.Ile1697AspfsTer?) c.5013dup (p.Ile1672AspfsTer?) n.2868dup c.5145dup (p.Ile1716AspfsTer?) c.5091dup (p.Ile1698AspfsTer?) c.5106dup (p.Ile1703AspfsTer?) c.5016dup (p.Ile1673AspfsTer?) c.5141dup n.3304dup c.5214dup (p.Ile1739AspfsTer?) n.4035dup n.2472dup n.2443dup n.2333dup c.4875dup (p.Ile1626AspfsTer?) c.*4387dup (n.*4387dup) c.4911dup (p.Ile1638AspfsTer?) n.2943dup c.1402dup n.2335dup c.5274dup (p.Ile1759AspfsTer?) c.5271dup (p.Ile1758AspfsTer?) c.5163dup (p.Ile1722AspfsTer?) c.5142dup (p.Ile1715AspfsTer?) c.4488dup (p.Ile1497AspfsTer?) c.5436dup (p.Ile1813AspfsTer?) c.5184dup (p.Ile1729AspfsTer?) c.3930dup (p.Ile1311AspfsTer?) | ClinVar |
16 | g.2088286G>A | CA022177 | TSC2 | c.*3569G>A (n.*3569G>A) c.5067G>A (p.Trp1689Ter) c.5217G>A (p.Trp1739Ter) c.*5733G>A (n.*5733G>A) c.*7969G>A (n.*7969G>A) c.5220G>A (p.Trp1740Ter) c.5151G>A (p.Trp1717Ter) c.5019G>A (p.Trp1673Ter) c.5052G>A (p.Trp1684Ter) c.1443G>A n.3102G>A c.3874G>A c.5079G>A (p.Trp1693Ter) n.817G>A c.5022G>A (p.Trp1674Ter) c.5088G>A (p.Trp1696Ter) c.5013G>A (p.Trp1671Ter) n.2868G>A c.5145G>A (p.Trp1715Ter) c.5091G>A (p.Trp1697Ter) c.5106G>A (p.Trp1702Ter) c.5016G>A (p.Trp1672Ter) c.5141G>A n.3304G>A c.5214G>A (p.Trp1738Ter) n.4035G>A n.2472G>A n.2443G>A n.2333G>A c.4875G>A (p.Trp1625Ter) c.*4387G>A (n.*4387G>A) c.4911G>A (p.Trp1637Ter) n.2943G>A c.1402G>A n.2335G>A c.5274G>A (p.Trp1758Ter) c.5271G>A (p.Trp1757Ter) c.5163G>A (p.Trp1721Ter) c.5142G>A (p.Trp1714Ter) c.4488G>A (p.Trp1496Ter) c.5436G>A (p.Trp1812Ter) c.5184G>A (p.Trp1728Ter) c.3930G>A (p.Trp1310Ter) | ClinVar dbSNP |
16 | g.2088286G>C | CA394314475 | TSC2 | c.*3569G>C (n.*3569G>C) c.5067G>C (p.Trp1689Cys) c.5217G>C (p.Trp1739Cys) c.*5733G>C (n.*5733G>C) c.*7969G>C (n.*7969G>C) c.5220G>C (p.Trp1740Cys) c.5151G>C (p.Trp1717Cys) c.5019G>C (p.Trp1673Cys) c.5052G>C (p.Trp1684Cys) c.1443G>C n.3102G>C c.3874G>C c.5079G>C (p.Trp1693Cys) n.817G>C c.5022G>C (p.Trp1674Cys) c.5088G>C (p.Trp1696Cys) c.5013G>C (p.Trp1671Cys) n.2868G>C c.5145G>C (p.Trp1715Cys) c.5091G>C (p.Trp1697Cys) c.5106G>C (p.Trp1702Cys) c.5016G>C (p.Trp1672Cys) c.5141G>C n.3304G>C c.5214G>C (p.Trp1738Cys) n.4035G>C n.2472G>C n.2443G>C n.2333G>C c.4875G>C (p.Trp1625Cys) c.*4387G>C (n.*4387G>C) c.4911G>C (p.Trp1637Cys) n.2943G>C c.1402G>C n.2335G>C c.5274G>C (p.Trp1758Cys) c.5271G>C (p.Trp1757Cys) c.5163G>C (p.Trp1721Cys) c.5142G>C (p.Trp1714Cys) c.4488G>C (p.Trp1496Cys) c.5436G>C (p.Trp1812Cys) c.5184G>C (p.Trp1728Cys) c.3930G>C (p.Trp1310Cys) | dbSNP gnomAD v4 |
16 | g.2088286G= | CA2202032405 | TSC2 | c.*3569G= (n.*3569G=) c.5067G= (p.Trp1689=) c.5217G= (p.Trp1739=) c.*5733G= (n.*5733G=) c.*7969G= (n.*7969G=) c.5220G= (p.Trp1740=) c.5151G= (p.Trp1717=) c.5019G= (p.Trp1673=) c.5052G= (p.Trp1684=) c.1443G= n.3102G= c.3874G= c.5079G= (p.Trp1693=) n.817G= c.5022G= (p.Trp1674=) c.5088G= (p.Trp1696=) c.5013G= (p.Trp1671=) n.2868G= c.5145G= (p.Trp1715=) c.5091G= (p.Trp1697=) c.5106G= (p.Trp1702=) c.5016G= (p.Trp1672=) c.5141G= n.3304G= c.5214G= (p.Trp1738=) n.4035G= n.2472G= n.2443G= n.2333G= c.4875G= (p.Trp1625=) c.*4387G= (n.*4387G=) c.4911G= (p.Trp1637=) n.2943G= c.1402G= n.2335G= c.5274G= (p.Trp1758=) c.5271G= (p.Trp1757=) c.5163G= (p.Trp1721=) c.5142G= (p.Trp1714=) c.4488G= (p.Trp1496=) c.5436G= (p.Trp1812=) c.5184G= (p.Trp1728=) c.3930G= (p.Trp1310=) | |
16 | g.2088286G>T | CA394314479 | TSC2 | c.*3569G>T (n.*3569G>T) c.5067G>T (p.Trp1689Cys) c.5217G>T (p.Trp1739Cys) c.*5733G>T (n.*5733G>T) c.*7969G>T (n.*7969G>T) c.5220G>T (p.Trp1740Cys) c.5151G>T (p.Trp1717Cys) c.5019G>T (p.Trp1673Cys) c.5052G>T (p.Trp1684Cys) c.1443G>T n.3102G>T c.3874G>T c.5079G>T (p.Trp1693Cys) n.817G>T c.5022G>T (p.Trp1674Cys) c.5088G>T (p.Trp1696Cys) c.5013G>T (p.Trp1671Cys) n.2868G>T c.5145G>T (p.Trp1715Cys) c.5091G>T (p.Trp1697Cys) c.5106G>T (p.Trp1702Cys) c.5016G>T (p.Trp1672Cys) c.5141G>T n.3304G>T c.5214G>T (p.Trp1738Cys) n.4035G>T n.2472G>T n.2443G>T n.2333G>T c.4875G>T (p.Trp1625Cys) c.*4387G>T (n.*4387G>T) c.4911G>T (p.Trp1637Cys) n.2943G>T c.1402G>T n.2335G>T c.5274G>T (p.Trp1758Cys) c.5271G>T (p.Trp1757Cys) c.5163G>T (p.Trp1721Cys) c.5142G>T (p.Trp1714Cys) c.4488G>T (p.Trp1496Cys) c.5436G>T (p.Trp1812Cys) c.5184G>T (p.Trp1728Cys) c.3930G>T (p.Trp1310Cys) | ClinVar dbSNP gnomAD v4 |
16 | g.2088286_2088291dup | CA022192 | TSC2 | c.*3569_*3574dup (n.*3569_*3574dup) c.5067_5072dup (p.Ala1691_Arg1692insIleAla) c.5217_5222dup (p.Ala1741_Arg1742insIleAla) c.*5733_*5738dup (n.*5733_*5738dup) c.*7969_*7974dup (n.*7969_*7974dup) c.5220_5225dup (p.Ala1742_Arg1743insIleAla) c.5151_5156dup (p.Ala1719_Arg1720insIleAla) c.5019_5024dup (p.Ala1675_Arg1676insIleAla) c.5052_5057dup (p.Ala1686_Arg1687insIleAla) c.1443_1448dup n.3102_3107dup c.3874_3879dup c.5079_5084dup (p.Ala1695_Arg1696insIleAla) n.817_822dup c.5022_5027dup (p.Ala1676_Arg1677insIleAla) c.5088_5093dup (p.Ala1698_Arg1699insIleAla) c.5013_5018dup (p.Ala1673_Arg1674insIleAla) n.2868_2873dup c.5145_5150dup (p.Ala1717_Arg1718insIleAla) c.5091_5096dup (p.Ala1699_Arg1700insIleAla) c.5106_5111dup (p.Ala1704_Arg1705insIleAla) c.5016_5021dup (p.Ala1674_Arg1675insIleAla) c.5141_5146dup n.3304_3309dup c.5214_5219dup (p.Ala1740_Arg1741insIleAla) n.4035_4040dup n.2472_2477dup n.2443_2448dup n.2333_2338dup c.4875_4880dup (p.Ala1627_Arg1628insIleAla) c.*4387_*4392dup (n.*4387_*4392dup) c.4911_4916dup (p.Ala1639_Arg1640insIleAla) n.2943_2948dup c.1402_1407dup n.2335_2340dup c.5274_5279dup (p.Ala1760_Arg1761insIleAla) c.5271_5276dup (p.Ala1759_Arg1760insIleAla) c.5163_5168dup (p.Ala1723_Arg1724insIleAla) c.5142_5147dup (p.Ala1716_Arg1717insIleAla) c.4488_4493dup (p.Ala1498_Arg1499insIleAla) c.5436_5441dup (p.Ala1814_Arg1815insIleAla) c.5184_5189dup (p.Ala1730_Arg1731insIleAla) c.3930_3935dup (p.Ala1312_Arg1313insIleAla) | ClinVar dbSNP |
16 | g.2088287A= | CA2202032411 | TSC2 | c.*3570A= (n.*3570A=) c.5068A= (p.Ile1690=) c.5218A= (p.Ile1740=) c.*5734A= (n.*5734A=) c.*7970A= (n.*7970A=) c.5221A= (p.Ile1741=) c.5152A= (p.Ile1718=) c.5020A= (p.Ile1674=) c.5053A= (p.Ile1685=) c.1444A= n.3103A= c.3875A= c.5080A= (p.Ile1694=) n.818A= c.5023A= (p.Ile1675=) c.5089A= (p.Ile1697=) c.5014A= (p.Ile1672=) n.2869A= c.5146A= (p.Ile1716=) c.5092A= (p.Ile1698=) c.5107A= (p.Ile1703=) c.5017A= (p.Ile1673=) c.5142A= n.3305A= c.5215A= (p.Ile1739=) n.4036A= n.2473A= n.2444A= n.2334A= c.4876A= (p.Ile1626=) c.*4388A= (n.*4388A=) c.4912A= (p.Ile1638=) n.2944A= c.1403A= n.2336A= c.5275A= (p.Ile1759=) c.5272A= (p.Ile1758=) c.5164A= (p.Ile1722=) c.5143A= (p.Ile1715=) c.4489A= (p.Ile1497=) c.5437A= (p.Ile1813=) c.5185A= (p.Ile1729=) c.3931A= (p.Ile1311=) | |
16 | g.2088287A>C | CA394314482 | TSC2 | c.*3570A>C (n.*3570A>C) c.5068A>C (p.Ile1690Leu) c.5218A>C (p.Ile1740Leu) c.*5734A>C (n.*5734A>C) c.*7970A>C (n.*7970A>C) c.5221A>C (p.Ile1741Leu) c.5152A>C (p.Ile1718Leu) c.5020A>C (p.Ile1674Leu) c.5053A>C (p.Ile1685Leu) c.1444A>C n.3103A>C c.3875A>C c.5080A>C (p.Ile1694Leu) n.818A>C c.5023A>C (p.Ile1675Leu) c.5089A>C (p.Ile1697Leu) c.5014A>C (p.Ile1672Leu) n.2869A>C c.5146A>C (p.Ile1716Leu) c.5092A>C (p.Ile1698Leu) c.5107A>C (p.Ile1703Leu) c.5017A>C (p.Ile1673Leu) c.5142A>C n.3305A>C c.5215A>C (p.Ile1739Leu) n.4036A>C n.2473A>C n.2444A>C n.2334A>C c.4876A>C (p.Ile1626Leu) c.*4388A>C (n.*4388A>C) c.4912A>C (p.Ile1638Leu) n.2944A>C c.1403A>C n.2336A>C c.5275A>C (p.Ile1759Leu) c.5272A>C (p.Ile1758Leu) c.5164A>C (p.Ile1722Leu) c.5143A>C (p.Ile1715Leu) c.4489A>C (p.Ile1497Leu) c.5437A>C (p.Ile1813Leu) c.5185A>C (p.Ile1729Leu) c.3931A>C (p.Ile1311Leu) | dbSNP |
16 | g.2088287A>G | CA054501 | TSC2 | c.*3570A>G (n.*3570A>G) c.5068A>G (p.Ile1690Val) c.5218A>G (p.Ile1740Val) c.*5734A>G (n.*5734A>G) c.*7970A>G (n.*7970A>G) c.5221A>G (p.Ile1741Val) c.5152A>G (p.Ile1718Val) c.5020A>G (p.Ile1674Val) c.5053A>G (p.Ile1685Val) c.1444A>G n.3103A>G c.3875A>G c.5080A>G (p.Ile1694Val) n.818A>G c.5023A>G (p.Ile1675Val) c.5089A>G (p.Ile1697Val) c.5014A>G (p.Ile1672Val) n.2869A>G c.5146A>G (p.Ile1716Val) c.5092A>G (p.Ile1698Val) c.5107A>G (p.Ile1703Val) c.5017A>G (p.Ile1673Val) c.5142A>G n.3305A>G c.5215A>G (p.Ile1739Val) n.4036A>G n.2473A>G n.2444A>G n.2334A>G c.4876A>G (p.Ile1626Val) c.*4388A>G (n.*4388A>G) c.4912A>G (p.Ile1638Val) n.2944A>G c.1403A>G n.2336A>G c.5275A>G (p.Ile1759Val) c.5272A>G (p.Ile1758Val) c.5164A>G (p.Ile1722Val) c.5143A>G (p.Ile1715Val) c.4489A>G (p.Ile1497Val) c.5437A>G (p.Ile1813Val) c.5185A>G (p.Ile1729Val) c.3931A>G (p.Ile1311Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.2088287A>T | CA394314488 | TSC2 | c.*3570A>T (n.*3570A>T) c.5068A>T (p.Ile1690Phe) c.5218A>T (p.Ile1740Phe) c.*5734A>T (n.*5734A>T) c.*7970A>T (n.*7970A>T) c.5221A>T (p.Ile1741Phe) c.5152A>T (p.Ile1718Phe) c.5020A>T (p.Ile1674Phe) c.5053A>T (p.Ile1685Phe) c.1444A>T n.3103A>T c.3875A>T c.5080A>T (p.Ile1694Phe) n.818A>T c.5023A>T (p.Ile1675Phe) c.5089A>T (p.Ile1697Phe) c.5014A>T (p.Ile1672Phe) n.2869A>T c.5146A>T (p.Ile1716Phe) c.5092A>T (p.Ile1698Phe) c.5107A>T (p.Ile1703Phe) c.5017A>T (p.Ile1673Phe) c.5142A>T n.3305A>T c.5215A>T (p.Ile1739Phe) n.4036A>T n.2473A>T n.2444A>T n.2334A>T c.4876A>T (p.Ile1626Phe) c.*4388A>T (n.*4388A>T) c.4912A>T (p.Ile1638Phe) n.2944A>T c.1403A>T n.2336A>T c.5275A>T (p.Ile1759Phe) c.5272A>T (p.Ile1758Phe) c.5164A>T (p.Ile1722Phe) c.5143A>T (p.Ile1715Phe) c.4489A>T (p.Ile1497Phe) c.5437A>T (p.Ile1813Phe) c.5185A>T (p.Ile1729Phe) c.3931A>T (p.Ile1311Phe) | ClinVar dbSNP |
16 | g.2088288T>A | CA394314495 | TSC2 | c.*3571T>A (n.*3571T>A) c.5069T>A (p.Ile1690Asn) c.5219T>A (p.Ile1740Asn) c.*5735T>A (n.*5735T>A) c.*7971T>A (n.*7971T>A) c.5222T>A (p.Ile1741Asn) c.5153T>A (p.Ile1718Asn) c.5021T>A (p.Ile1674Asn) c.5054T>A (p.Ile1685Asn) c.1445T>A n.3104T>A c.3876T>A c.5081T>A (p.Ile1694Asn) n.819T>A c.5024T>A (p.Ile1675Asn) c.5090T>A (p.Ile1697Asn) c.5015T>A (p.Ile1672Asn) n.2870T>A c.5147T>A (p.Ile1716Asn) c.5093T>A (p.Ile1698Asn) c.5108T>A (p.Ile1703Asn) c.5018T>A (p.Ile1673Asn) c.5143T>A n.3306T>A c.5216T>A (p.Ile1739Asn) n.4037T>A n.2474T>A n.2445T>A n.2335T>A c.4877T>A (p.Ile1626Asn) c.*4389T>A (n.*4389T>A) c.4913T>A (p.Ile1638Asn) n.2945T>A c.1404T>A n.2337T>A c.5276T>A (p.Ile1759Asn) c.5273T>A (p.Ile1758Asn) c.5165T>A (p.Ile1722Asn) c.5144T>A (p.Ile1715Asn) c.4490T>A (p.Ile1497Asn) c.5438T>A (p.Ile1813Asn) c.5186T>A (p.Ile1729Asn) c.3932T>A (p.Ile1311Asn) | dbSNP |
16 | g.2088288T>C | CA276759496 | TSC2 | c.*3571T>C (n.*3571T>C) c.5069T>C (p.Ile1690Thr) c.5219T>C (p.Ile1740Thr) c.*5735T>C (n.*5735T>C) c.*7971T>C (n.*7971T>C) c.5222T>C (p.Ile1741Thr) c.5153T>C (p.Ile1718Thr) c.5021T>C (p.Ile1674Thr) c.5054T>C (p.Ile1685Thr) c.1445T>C n.3104T>C c.3876T>C c.5081T>C (p.Ile1694Thr) n.819T>C c.5024T>C (p.Ile1675Thr) c.5090T>C (p.Ile1697Thr) c.5015T>C (p.Ile1672Thr) n.2870T>C c.5147T>C (p.Ile1716Thr) c.5093T>C (p.Ile1698Thr) c.5108T>C (p.Ile1703Thr) c.5018T>C (p.Ile1673Thr) c.5143T>C n.3306T>C c.5216T>C (p.Ile1739Thr) n.4037T>C n.2474T>C n.2445T>C n.2335T>C c.4877T>C (p.Ile1626Thr) c.*4389T>C (n.*4389T>C) c.4913T>C (p.Ile1638Thr) n.2945T>C c.1404T>C n.2337T>C c.5276T>C (p.Ile1759Thr) c.5273T>C (p.Ile1758Thr) c.5165T>C (p.Ile1722Thr) c.5144T>C (p.Ile1715Thr) c.4490T>C (p.Ile1497Thr) c.5438T>C (p.Ile1813Thr) c.5186T>C (p.Ile1729Thr) c.3932T>C (p.Ile1311Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.2088288T>G | CA394314497 | TSC2 | c.*3571T>G (n.*3571T>G) c.5069T>G (p.Ile1690Ser) c.5219T>G (p.Ile1740Ser) c.*5735T>G (n.*5735T>G) c.*7971T>G (n.*7971T>G) c.5222T>G (p.Ile1741Ser) c.5153T>G (p.Ile1718Ser) c.5021T>G (p.Ile1674Ser) c.5054T>G (p.Ile1685Ser) c.1445T>G n.3104T>G c.3876T>G c.5081T>G (p.Ile1694Ser) n.819T>G c.5024T>G (p.Ile1675Ser) c.5090T>G (p.Ile1697Ser) c.5015T>G (p.Ile1672Ser) n.2870T>G c.5147T>G (p.Ile1716Ser) c.5093T>G (p.Ile1698Ser) c.5108T>G (p.Ile1703Ser) c.5018T>G (p.Ile1673Ser) c.5143T>G n.3306T>G c.5216T>G (p.Ile1739Ser) n.4037T>G n.2474T>G n.2445T>G n.2335T>G c.4877T>G (p.Ile1626Ser) c.*4389T>G (n.*4389T>G) c.4913T>G (p.Ile1638Ser) n.2945T>G c.1404T>G n.2337T>G c.5276T>G (p.Ile1759Ser) c.5273T>G (p.Ile1758Ser) c.5165T>G (p.Ile1722Ser) c.5144T>G (p.Ile1715Ser) c.4490T>G (p.Ile1497Ser) c.5438T>G (p.Ile1813Ser) c.5186T>G (p.Ile1729Ser) c.3932T>G (p.Ile1311Ser) | dbSNP |
16 | g.2088288T= | CA2202032417 | TSC2 | c.*3571T= (n.*3571T=) c.5069T= (p.Ile1690=) c.5219T= (p.Ile1740=) c.*5735T= (n.*5735T=) c.*7971T= (n.*7971T=) c.5222T= (p.Ile1741=) c.5153T= (p.Ile1718=) c.5021T= (p.Ile1674=) c.5054T= (p.Ile1685=) c.1445T= n.3104T= c.3876T= c.5081T= (p.Ile1694=) n.819T= c.5024T= (p.Ile1675=) c.5090T= (p.Ile1697=) c.5015T= (p.Ile1672=) n.2870T= c.5147T= (p.Ile1716=) c.5093T= (p.Ile1698=) c.5108T= (p.Ile1703=) c.5018T= (p.Ile1673=) c.5143T= n.3306T= c.5216T= (p.Ile1739=) n.4037T= n.2474T= n.2445T= n.2335T= c.4877T= (p.Ile1626=) c.*4389T= (n.*4389T=) c.4913T= (p.Ile1638=) n.2945T= c.1404T= n.2337T= c.5276T= (p.Ile1759=) c.5273T= (p.Ile1758=) c.5165T= (p.Ile1722=) c.5144T= (p.Ile1715=) c.4490T= (p.Ile1497=) c.5438T= (p.Ile1813=) c.5186T= (p.Ile1729=) c.3932T= (p.Ile1311=) | |
16 | g.2088289T>A | CA493043810 | TSC2 | c.*3572T>A (n.*3572T>A) c.5070T>A (p.Ile1690=) c.5220T>A (p.Ile1740=) c.*5736T>A (n.*5736T>A) c.*7972T>A (n.*7972T>A) c.5223T>A (p.Ile1741=) c.5154T>A (p.Ile1718=) c.5022T>A (p.Ile1674=) c.5055T>A (p.Ile1685=) c.1446T>A n.3105T>A c.3877T>A c.5082T>A (p.Ile1694=) n.820T>A c.5025T>A (p.Ile1675=) c.5091T>A (p.Ile1697=) c.5016T>A (p.Ile1672=) n.2871T>A c.5148T>A (p.Ile1716=) c.5094T>A (p.Ile1698=) c.5109T>A (p.Ile1703=) c.5019T>A (p.Ile1673=) c.5144T>A n.3307T>A c.5217T>A (p.Ile1739=) n.4038T>A n.2475T>A n.2446T>A n.2336T>A c.4878T>A (p.Ile1626=) c.*4390T>A (n.*4390T>A) c.4914T>A (p.Ile1638=) n.2946T>A c.1405T>A n.2338T>A c.5277T>A (p.Ile1759=) c.5274T>A (p.Ile1758=) c.5166T>A (p.Ile1722=) c.5145T>A (p.Ile1715=) c.4491T>A (p.Ile1497=) c.5439T>A (p.Ile1813=) c.5187T>A (p.Ile1729=) c.3933T>A (p.Ile1311=) | |
16 | g.2088289T>C | CA493043811 | TSC2 | c.*3572T>C (n.*3572T>C) c.5070T>C (p.Ile1690=) c.5220T>C (p.Ile1740=) c.*5736T>C (n.*5736T>C) c.*7972T>C (n.*7972T>C) c.5223T>C (p.Ile1741=) c.5154T>C (p.Ile1718=) c.5022T>C (p.Ile1674=) c.5055T>C (p.Ile1685=) c.1446T>C n.3105T>C c.3877T>C c.5082T>C (p.Ile1694=) n.820T>C c.5025T>C (p.Ile1675=) c.5091T>C (p.Ile1697=) c.5016T>C (p.Ile1672=) n.2871T>C c.5148T>C (p.Ile1716=) c.5094T>C (p.Ile1698=) c.5109T>C (p.Ile1703=) c.5019T>C (p.Ile1673=) c.5144T>C n.3307T>C c.5217T>C (p.Ile1739=) n.4038T>C n.2475T>C n.2446T>C n.2336T>C c.4878T>C (p.Ile1626=) c.*4390T>C (n.*4390T>C) c.4914T>C (p.Ile1638=) n.2946T>C c.1405T>C n.2338T>C c.5277T>C (p.Ile1759=) c.5274T>C (p.Ile1758=) c.5166T>C (p.Ile1722=) c.5145T>C (p.Ile1715=) c.4491T>C (p.Ile1497=) c.5439T>C (p.Ile1813=) c.5187T>C (p.Ile1729=) c.3933T>C (p.Ile1311=) | |
16 | g.2088289T>G | CA394314504 | TSC2 | c.*3572T>G (n.*3572T>G) c.5070T>G (p.Ile1690Met) c.5220T>G (p.Ile1740Met) c.*5736T>G (n.*5736T>G) c.*7972T>G (n.*7972T>G) c.5223T>G (p.Ile1741Met) c.5154T>G (p.Ile1718Met) c.5022T>G (p.Ile1674Met) c.5055T>G (p.Ile1685Met) c.1446T>G n.3105T>G c.3877T>G c.5082T>G (p.Ile1694Met) n.820T>G c.5025T>G (p.Ile1675Met) c.5091T>G (p.Ile1697Met) c.5016T>G (p.Ile1672Met) n.2871T>G c.5148T>G (p.Ile1716Met) c.5094T>G (p.Ile1698Met) c.5109T>G (p.Ile1703Met) c.5019T>G (p.Ile1673Met) c.5144T>G n.3307T>G c.5217T>G (p.Ile1739Met) n.4038T>G n.2475T>G n.2446T>G n.2336T>G c.4878T>G (p.Ile1626Met) c.*4390T>G (n.*4390T>G) c.4914T>G (p.Ile1638Met) n.2946T>G c.1405T>G n.2338T>G c.5277T>G (p.Ile1759Met) c.5274T>G (p.Ile1758Met) c.5166T>G (p.Ile1722Met) c.5145T>G (p.Ile1715Met) c.4491T>G (p.Ile1497Met) c.5439T>G (p.Ile1813Met) c.5187T>G (p.Ile1729Met) c.3933T>G (p.Ile1311Met) | |
16 | g.2088289_2088307delinsTGCCCGGCTCCGCCACATC | CA2202032424 | TSC2 | c.*3572_*3590delinsTGCCCGGCTCCGCCACATC (n.*3572_*3590delinsTGCCCGGCTCCGCCACATC) c.5070_5088delinsTGCCCGGCTCCGCCACATC (p.Ile1690=) c.5220_5238delinsTGCCCGGCTCCGCCACATC (p.Ile1740=) c.*5736_*5754delinsTGCCCGGCTCCGCCACATC (n.*5736_*5754delinsTGCCCGGCTCCGCCACATC) c.*7972_*7990delinsTGCCCGGCTCCGCCACATC (n.*7972_*7990delinsTGCCCGGCTCCGCCACATC) c.5223_5241delinsTGCCCGGCTCCGCCACATC (p.Ile1741=) c.5154_5172delinsTGCCCGGCTCCGCCACATC (p.Ile1718=) c.5022_5040delinsTGCCCGGCTCCGCCACATC (p.Ile1674=) c.5055_5073delinsTGCCCGGCTCCGCCACATC (p.Ile1685=) c.1446_1464delinsTGCCCGGCTCCGCCACATC n.3105_3123delinsTGCCCGGCTCCGCCACATC c.3877_3895delinsTGCCCGGCTCCGCCACATC c.5082_5100delinsTGCCCGGCTCCGCCACATC (p.Ile1694=) n.820_838delinsTGCCCGGCTCCGCCACATC c.5025_5043delinsTGCCCGGCTCCGCCACATC (p.Ile1675=) c.5091_5109delinsTGCCCGGCTCCGCCACATC (p.Ile1697=) c.5016_5034delinsTGCCCGGCTCCGCCACATC (p.Ile1672=) n.2871_2889delinsTGCCCGGCTCCGCCACATC c.5148_5166delinsTGCCCGGCTCCGCCACATC (p.Ile1716=) c.5094_5112delinsTGCCCGGCTCCGCCACATC (p.Ile1698=) c.5109_5127delinsTGCCCGGCTCCGCCACATC (p.Ile1703=) c.5019_5037delinsTGCCCGGCTCCGCCACATC (p.Ile1673=) c.5144_5162delinsTGCCCGGCTCCGCCACATC n.3307_3325delinsTGCCCGGCTCCGCCACATC c.5217_5235delinsTGCCCGGCTCCGCCACATC (p.Ile1739=) n.4038_4056delinsTGCCCGGCTCCGCCACATC n.2475_2493delinsTGCCCGGCTCCGCCACATC n.2446_2464delinsTGCCCGGCTCCGCCACATC n.2336_2354delinsTGCCCGGCTCCGCCACATC c.4878_4896delinsTGCCCGGCTCCGCCACATC (p.Ile1626=) c.*4390_*4408delinsTGCCCGGCTCCGCCACATC (n.*4390_*4408delinsTGCCCGGCTCCGCCACATC) c.4914_4932delinsTGCCCGGCTCCGCCACATC (p.Ile1638=) n.2946_2964delinsTGCCCGGCTCCGCCACATC c.1405_1423delinsTGCCCGGCTCCGCCACATC n.2338_2356delinsTGCCCGGCTCCGCCACATC c.5277_5295delinsTGCCCGGCTCCGCCACATC (p.Ile1759=) c.5274_5292delinsTGCCCGGCTCCGCCACATC (p.Ile1758=) c.5166_5184delinsTGCCCGGCTCCGCCACATC (p.Ile1722=) c.5145_5163delinsTGCCCGGCTCCGCCACATC (p.Ile1715=) c.4491_4509delinsTGCCCGGCTCCGCCACATC (p.Ile1497=) c.5439_5457delinsTGCCCGGCTCCGCCACATC (p.Ile1813=) c.5187_5205delinsTGCCCGGCTCCGCCACATC (p.Ile1729=) c.3933_3951delinsTGCCCGGCTCCGCCACATC (p.Ile1311=) | |
16 | g.2088290G>A | CA394314508 | TSC2 | c.*3573G>A (n.*3573G>A) c.5071G>A (p.Ala1691Thr) c.5221G>A (p.Ala1741Thr) c.*5737G>A (n.*5737G>A) c.*7973G>A (n.*7973G>A) c.5224G>A (p.Ala1742Thr) c.5155G>A (p.Ala1719Thr) c.5023G>A (p.Ala1675Thr) c.5056G>A (p.Ala1686Thr) c.1447G>A n.3106G>A c.3878G>A c.5083G>A (p.Ala1695Thr) n.821G>A c.5026G>A (p.Ala1676Thr) c.5092G>A (p.Ala1698Thr) c.5017G>A (p.Ala1673Thr) n.2872G>A c.5149G>A (p.Ala1717Thr) c.5095G>A (p.Ala1699Thr) c.5110G>A (p.Ala1704Thr) c.5020G>A (p.Ala1674Thr) c.5145G>A n.3308G>A c.5218G>A (p.Ala1740Thr) n.4039G>A n.2476G>A n.2447G>A n.2337G>A c.4879G>A (p.Ala1627Thr) c.*4391G>A (n.*4391G>A) c.4915G>A (p.Ala1639Thr) n.2947G>A c.1406G>A n.2339G>A c.5278G>A (p.Ala1760Thr) c.5275G>A (p.Ala1759Thr) c.5167G>A (p.Ala1723Thr) c.5146G>A (p.Ala1716Thr) c.4492G>A (p.Ala1498Thr) c.5440G>A (p.Ala1814Thr) c.5188G>A (p.Ala1730Thr) c.3934G>A (p.Ala1312Thr) | dbSNP |
16 | g.2088290G>C | CA394314512 | TSC2 | c.*3573G>C (n.*3573G>C) c.5071G>C (p.Ala1691Pro) c.5221G>C (p.Ala1741Pro) c.*5737G>C (n.*5737G>C) c.*7973G>C (n.*7973G>C) c.5224G>C (p.Ala1742Pro) c.5155G>C (p.Ala1719Pro) c.5023G>C (p.Ala1675Pro) c.5056G>C (p.Ala1686Pro) c.1447G>C n.3106G>C c.3878G>C c.5083G>C (p.Ala1695Pro) n.821G>C c.5026G>C (p.Ala1676Pro) c.5092G>C (p.Ala1698Pro) c.5017G>C (p.Ala1673Pro) n.2872G>C c.5149G>C (p.Ala1717Pro) c.5095G>C (p.Ala1699Pro) c.5110G>C (p.Ala1704Pro) c.5020G>C (p.Ala1674Pro) c.5145G>C n.3308G>C c.5218G>C (p.Ala1740Pro) n.4039G>C n.2476G>C n.2447G>C n.2337G>C c.4879G>C (p.Ala1627Pro) c.*4391G>C (n.*4391G>C) c.4915G>C (p.Ala1639Pro) n.2947G>C c.1406G>C n.2339G>C c.5278G>C (p.Ala1760Pro) c.5275G>C (p.Ala1759Pro) c.5167G>C (p.Ala1723Pro) c.5146G>C (p.Ala1716Pro) c.4492G>C (p.Ala1498Pro) c.5440G>C (p.Ala1814Pro) c.5188G>C (p.Ala1730Pro) c.3934G>C (p.Ala1312Pro) | dbSNP |
16 | g.2088290G= | CA2202032429 | TSC2 | c.*3573G= (n.*3573G=) c.5071G= (p.Ala1691=) c.5221G= (p.Ala1741=) c.*5737G= (n.*5737G=) c.*7973G= (n.*7973G=) c.5224G= (p.Ala1742=) c.5155G= (p.Ala1719=) c.5023G= (p.Ala1675=) c.5056G= (p.Ala1686=) c.1447G= n.3106G= c.3878G= c.5083G= (p.Ala1695=) n.821G= c.5026G= (p.Ala1676=) c.5092G= (p.Ala1698=) c.5017G= (p.Ala1673=) n.2872G= c.5149G= (p.Ala1717=) c.5095G= (p.Ala1699=) c.5110G= (p.Ala1704=) c.5020G= (p.Ala1674=) c.5145G= n.3308G= c.5218G= (p.Ala1740=) n.4039G= n.2476G= n.2447G= n.2337G= c.4879G= (p.Ala1627=) c.*4391G= (n.*4391G=) c.4915G= (p.Ala1639=) n.2947G= c.1406G= n.2339G= c.5278G= (p.Ala1760=) c.5275G= (p.Ala1759=) c.5167G= (p.Ala1723=) c.5146G= (p.Ala1716=) c.4492G= (p.Ala1498=) c.5440G= (p.Ala1814=) c.5188G= (p.Ala1730=) c.3934G= (p.Ala1312=) | |
16 | g.2088290G>T | CA394314515 | TSC2 | c.*3573G>T (n.*3573G>T) c.5071G>T (p.Ala1691Ser) c.5221G>T (p.Ala1741Ser) c.*5737G>T (n.*5737G>T) c.*7973G>T (n.*7973G>T) c.5224G>T (p.Ala1742Ser) c.5155G>T (p.Ala1719Ser) c.5023G>T (p.Ala1675Ser) c.5056G>T (p.Ala1686Ser) c.1447G>T n.3106G>T c.3878G>T c.5083G>T (p.Ala1695Ser) n.821G>T c.5026G>T (p.Ala1676Ser) c.5092G>T (p.Ala1698Ser) c.5017G>T (p.Ala1673Ser) n.2872G>T c.5149G>T (p.Ala1717Ser) c.5095G>T (p.Ala1699Ser) c.5110G>T (p.Ala1704Ser) c.5020G>T (p.Ala1674Ser) c.5145G>T n.3308G>T c.5218G>T (p.Ala1740Ser) n.4039G>T n.2476G>T n.2447G>T n.2337G>T c.4879G>T (p.Ala1627Ser) c.*4391G>T (n.*4391G>T) c.4915G>T (p.Ala1639Ser) n.2947G>T c.1406G>T n.2339G>T c.5278G>T (p.Ala1760Ser) c.5275G>T (p.Ala1759Ser) c.5167G>T (p.Ala1723Ser) c.5146G>T (p.Ala1716Ser) c.4492G>T (p.Ala1498Ser) c.5440G>T (p.Ala1814Ser) c.5188G>T (p.Ala1730Ser) c.3934G>T (p.Ala1312Ser) | |
16 | g.2088290_2088307del | CA022183 | TSC2 | c.*3573_*3590del (n.*3573_*3590del) c.5071_5088del (p.Ala1691_Ile1696del) c.5221_5238del (p.Ala1741_Ile1746del) c.*5737_*5754del (n.*5737_*5754del) c.*7973_*7990del (n.*7973_*7990del) c.5224_5241del (p.Ala1742_Ile1747del) c.5155_5172del (p.Ala1719_Ile1724del) c.5023_5040del (p.Ala1675_Ile1680del) c.5056_5073del (p.Ala1686_Ile1691del) c.1447_1464del n.3106_3123del c.3878_3895del c.5083_5100del (p.Ala1695_Ile1700del) n.821_838del c.5026_5043del (p.Ala1676_Ile1681del) c.5092_5109del (p.Ala1698_Ile1703del) c.5017_5034del (p.Ala1673_Ile1678del) n.2872_2889del c.5149_5166del (p.Ala1717_Ile1722del) c.5095_5112del (p.Ala1699_Ile1704del) c.5110_5127del (p.Ala1704_Ile1709del) c.5020_5037del (p.Ala1674_Ile1679del) c.5145_5162del n.3308_3325del c.5218_5235del (p.Ala1740_Ile1745del) n.4039_4056del n.2476_2493del n.2447_2464del n.2337_2354del c.4879_4896del (p.Ala1627_Ile1632del) c.*4391_*4408del (n.*4391_*4408del) c.4915_4932del (p.Ala1639_Ile1644del) n.2947_2964del c.1406_1423del n.2339_2356del c.5278_5295del (p.Ala1760_Ile1765del) c.5275_5292del (p.Ala1759_Ile1764del) c.5167_5184del (p.Ala1723_Ile1728del) c.5146_5163del (p.Ala1716_Ile1721del) c.4492_4509del (p.Ala1498_Ile1503del) c.5440_5457del (p.Ala1814_Ile1819del) c.5188_5205del (p.Ala1730_Ile1735del) c.3934_3951del (p.Ala1312_Ile1317del) | ClinVar dbSNP |
16 | g.2088291C>A | CA394314519 | TSC2 | c.*3574C>A (n.*3574C>A) c.5072C>A (p.Ala1691Asp) c.5222C>A (p.Ala1741Asp) c.*5738C>A (n.*5738C>A) c.*7974C>A (n.*7974C>A) c.5225C>A (p.Ala1742Asp) c.5156C>A (p.Ala1719Asp) c.5024C>A (p.Ala1675Asp) c.5057C>A (p.Ala1686Asp) c.1448C>A n.3107C>A c.3879C>A c.5084C>A (p.Ala1695Asp) n.822C>A c.5027C>A (p.Ala1676Asp) c.5093C>A (p.Ala1698Asp) c.5018C>A (p.Ala1673Asp) n.2873C>A c.5150C>A (p.Ala1717Asp) c.5096C>A (p.Ala1699Asp) c.5111C>A (p.Ala1704Asp) c.5021C>A (p.Ala1674Asp) c.5146C>A n.3309C>A c.5219C>A (p.Ala1740Asp) n.4040C>A n.2477C>A n.2448C>A n.2338C>A c.4880C>A (p.Ala1627Asp) c.*4392C>A (n.*4392C>A) c.4916C>A (p.Ala1639Asp) n.2948C>A c.1407C>A n.2340C>A c.5279C>A (p.Ala1760Asp) c.5276C>A (p.Ala1759Asp) c.5168C>A (p.Ala1723Asp) c.5147C>A (p.Ala1716Asp) c.4493C>A (p.Ala1498Asp) c.5441C>A (p.Ala1814Asp) c.5189C>A (p.Ala1730Asp) c.3935C>A (p.Ala1312Asp) | |
16 | g.2088291C= | CA2202032436 | TSC2 | c.*3574C= (n.*3574C=) c.5072C= (p.Ala1691=) c.5222C= (p.Ala1741=) c.*5738C= (n.*5738C=) c.*7974C= (n.*7974C=) c.5225C= (p.Ala1742=) c.5156C= (p.Ala1719=) c.5024C= (p.Ala1675=) c.5057C= (p.Ala1686=) c.1448C= n.3107C= c.3879C= c.5084C= (p.Ala1695=) n.822C= c.5027C= (p.Ala1676=) c.5093C= (p.Ala1698=) c.5018C= (p.Ala1673=) n.2873C= c.5150C= (p.Ala1717=) c.5096C= (p.Ala1699=) c.5111C= (p.Ala1704=) c.5021C= (p.Ala1674=) c.5146C= n.3309C= c.5219C= (p.Ala1740=) n.4040C= n.2477C= n.2448C= n.2338C= c.4880C= (p.Ala1627=) c.*4392C= (n.*4392C=) c.4916C= (p.Ala1639=) n.2948C= c.1407C= n.2340C= c.5279C= (p.Ala1760=) c.5276C= (p.Ala1759=) c.5168C= (p.Ala1723=) c.5147C= (p.Ala1716=) c.4493C= (p.Ala1498=) c.5441C= (p.Ala1814=) c.5189C= (p.Ala1730=) c.3935C= (p.Ala1312=) | |
16 | g.2088291C>G | CA394314523 | TSC2 | c.*3574C>G (n.*3574C>G) c.5072C>G (p.Ala1691Gly) c.5222C>G (p.Ala1741Gly) c.*5738C>G (n.*5738C>G) c.*7974C>G (n.*7974C>G) c.5225C>G (p.Ala1742Gly) c.5156C>G (p.Ala1719Gly) c.5024C>G (p.Ala1675Gly) c.5057C>G (p.Ala1686Gly) c.1448C>G n.3107C>G c.3879C>G c.5084C>G (p.Ala1695Gly) n.822C>G c.5027C>G (p.Ala1676Gly) c.5093C>G (p.Ala1698Gly) c.5018C>G (p.Ala1673Gly) n.2873C>G c.5150C>G (p.Ala1717Gly) c.5096C>G (p.Ala1699Gly) c.5111C>G (p.Ala1704Gly) c.5021C>G (p.Ala1674Gly) c.5146C>G n.3309C>G c.5219C>G (p.Ala1740Gly) n.4040C>G n.2477C>G n.2448C>G n.2338C>G c.4880C>G (p.Ala1627Gly) c.*4392C>G (n.*4392C>G) c.4916C>G (p.Ala1639Gly) n.2948C>G c.1407C>G n.2340C>G c.5279C>G (p.Ala1760Gly) c.5276C>G (p.Ala1759Gly) c.5168C>G (p.Ala1723Gly) c.5147C>G (p.Ala1716Gly) c.4493C>G (p.Ala1498Gly) c.5441C>G (p.Ala1814Gly) c.5189C>G (p.Ala1730Gly) c.3935C>G (p.Ala1312Gly) | ClinVar dbSNP |
16 | g.2088291C>T | CA394314530 | TSC2 | c.*3574C>T (n.*3574C>T) c.5072C>T (p.Ala1691Val) c.5222C>T (p.Ala1741Val) c.*5738C>T (n.*5738C>T) c.*7974C>T (n.*7974C>T) c.5225C>T (p.Ala1742Val) c.5156C>T (p.Ala1719Val) c.5024C>T (p.Ala1675Val) c.5057C>T (p.Ala1686Val) c.1448C>T n.3107C>T c.3879C>T c.5084C>T (p.Ala1695Val) n.822C>T c.5027C>T (p.Ala1676Val) c.5093C>T (p.Ala1698Val) c.5018C>T (p.Ala1673Val) n.2873C>T c.5150C>T (p.Ala1717Val) c.5096C>T (p.Ala1699Val) c.5111C>T (p.Ala1704Val) c.5021C>T (p.Ala1674Val) c.5146C>T n.3309C>T c.5219C>T (p.Ala1740Val) n.4040C>T n.2477C>T n.2448C>T n.2338C>T c.4880C>T (p.Ala1627Val) c.*4392C>T (n.*4392C>T) c.4916C>T (p.Ala1639Val) n.2948C>T c.1407C>T n.2340C>T c.5279C>T (p.Ala1760Val) c.5276C>T (p.Ala1759Val) c.5168C>T (p.Ala1723Val) c.5147C>T (p.Ala1716Val) c.4493C>T (p.Ala1498Val) c.5441C>T (p.Ala1814Val) c.5189C>T (p.Ala1730Val) c.3935C>T (p.Ala1312Val) | ClinVar dbSNP gnomAD v2 |
16 | g.2088293dup | CA2202032434 | TSC2 | c.*3576dup (n.*3576dup) c.5074dup (p.Arg1692ProfsTer?) c.5224dup (p.Arg1742ProfsTer?) c.*5740dup (n.*5740dup) c.*7976dup (n.*7976dup) c.5227dup (p.Arg1743ProfsTer?) c.5158dup (p.Arg1720ProfsTer?) c.5026dup (p.Arg1676ProfsTer?) c.5059dup (p.Arg1687ProfsTer?) c.1450dup n.3109dup c.3881dup c.5086dup (p.Arg1696ProfsTer?) n.824dup c.5029dup (p.Arg1677ProfsTer?) c.5095dup (p.Arg1699ProfsTer?) c.5020dup (p.Arg1674ProfsTer?) n.2875dup c.5152dup (p.Arg1718ProfsTer?) c.5098dup (p.Arg1700ProfsTer?) c.5113dup (p.Arg1705ProfsTer?) c.5023dup (p.Arg1675ProfsTer?) c.5148dup n.3311dup c.5221dup (p.Arg1741ProfsTer?) n.4042dup n.2479dup n.2450dup n.2340dup c.4882dup (p.Arg1628ProfsTer?) c.*4394dup (n.*4394dup) c.4918dup (p.Arg1640ProfsTer?) n.2950dup c.1409dup n.2342dup c.5281dup (p.Arg1761ProfsTer?) c.5278dup (p.Arg1760ProfsTer?) c.5170dup (p.Arg1724ProfsTer?) c.5149dup (p.Arg1717ProfsTer?) c.4495dup (p.Arg1499ProfsTer?) c.5443dup (p.Arg1815ProfsTer?) c.5191dup (p.Arg1731ProfsTer?) c.3937dup (p.Arg1313ProfsTer?) | dbSNP |
16 | g.2088292C>A | CA493043818 | TSC2 | c.*3575C>A (n.*3575C>A) c.5073C>A (p.Ala1691=) c.5223C>A (p.Ala1741=) c.*5739C>A (n.*5739C>A) c.*7975C>A (n.*7975C>A) c.5226C>A (p.Ala1742=) c.5157C>A (p.Ala1719=) c.5025C>A (p.Ala1675=) c.5058C>A (p.Ala1686=) c.1449C>A n.3108C>A c.3880C>A c.5085C>A (p.Ala1695=) n.823C>A c.5028C>A (p.Ala1676=) c.5094C>A (p.Ala1698=) c.5019C>A (p.Ala1673=) n.2874C>A c.5151C>A (p.Ala1717=) c.5097C>A (p.Ala1699=) c.5112C>A (p.Ala1704=) c.5022C>A (p.Ala1674=) c.5147C>A n.3310C>A c.5220C>A (p.Ala1740=) n.4041C>A n.2478C>A n.2449C>A n.2339C>A c.4881C>A (p.Ala1627=) c.*4393C>A (n.*4393C>A) c.4917C>A (p.Ala1639=) n.2949C>A c.1408C>A n.2341C>A c.5280C>A (p.Ala1760=) c.5277C>A (p.Ala1759=) c.5169C>A (p.Ala1723=) c.5148C>A (p.Ala1716=) c.4494C>A (p.Ala1498=) c.5442C>A (p.Ala1814=) c.5190C>A (p.Ala1730=) c.3936C>A (p.Ala1312=) | |
16 | g.2088292C= | CA2202032452 | TSC2 | c.*3575C= (n.*3575C=) c.5073C= (p.Ala1691=) c.5223C= (p.Ala1741=) c.*5739C= (n.*5739C=) c.*7975C= (n.*7975C=) c.5226C= (p.Ala1742=) c.5157C= (p.Ala1719=) c.5025C= (p.Ala1675=) c.5058C= (p.Ala1686=) c.1449C= n.3108C= c.3880C= c.5085C= (p.Ala1695=) n.823C= c.5028C= (p.Ala1676=) c.5094C= (p.Ala1698=) c.5019C= (p.Ala1673=) n.2874C= c.5151C= (p.Ala1717=) c.5097C= (p.Ala1699=) c.5112C= (p.Ala1704=) c.5022C= (p.Ala1674=) c.5147C= n.3310C= c.5220C= (p.Ala1740=) n.4041C= n.2478C= n.2449C= n.2339C= c.4881C= (p.Ala1627=) c.*4393C= (n.*4393C=) c.4917C= (p.Ala1639=) n.2949C= c.1408C= n.2341C= c.5280C= (p.Ala1760=) c.5277C= (p.Ala1759=) c.5169C= (p.Ala1723=) c.5148C= (p.Ala1716=) c.4494C= (p.Ala1498=) c.5442C= (p.Ala1814=) c.5190C= (p.Ala1730=) c.3936C= (p.Ala1312=) | |
16 | g.2088292C>G | CA493043820 | TSC2 | c.*3575C>G (n.*3575C>G) c.5073C>G (p.Ala1691=) c.5223C>G (p.Ala1741=) c.*5739C>G (n.*5739C>G) c.*7975C>G (n.*7975C>G) c.5226C>G (p.Ala1742=) c.5157C>G (p.Ala1719=) c.5025C>G (p.Ala1675=) c.5058C>G (p.Ala1686=) c.1449C>G n.3108C>G c.3880C>G c.5085C>G (p.Ala1695=) n.823C>G c.5028C>G (p.Ala1676=) c.5094C>G (p.Ala1698=) c.5019C>G (p.Ala1673=) n.2874C>G c.5151C>G (p.Ala1717=) c.5097C>G (p.Ala1699=) c.5112C>G (p.Ala1704=) c.5022C>G (p.Ala1674=) c.5147C>G n.3310C>G c.5220C>G (p.Ala1740=) n.4041C>G n.2478C>G n.2449C>G n.2339C>G c.4881C>G (p.Ala1627=) c.*4393C>G (n.*4393C>G) c.4917C>G (p.Ala1639=) n.2949C>G c.1408C>G n.2341C>G c.5280C>G (p.Ala1760=) c.5277C>G (p.Ala1759=) c.5169C>G (p.Ala1723=) c.5148C>G (p.Ala1716=) c.4494C>G (p.Ala1498=) c.5442C>G (p.Ala1814=) c.5190C>G (p.Ala1730=) c.3936C>G (p.Ala1312=) | ClinVar dbSNP |
16 | g.2088292C>T | CA493043821 | TSC2 | c.*3575C>T (n.*3575C>T) c.5073C>T (p.Ala1691=) c.5223C>T (p.Ala1741=) c.*5739C>T (n.*5739C>T) c.*7975C>T (n.*7975C>T) c.5226C>T (p.Ala1742=) c.5157C>T (p.Ala1719=) c.5025C>T (p.Ala1675=) c.5058C>T (p.Ala1686=) c.1449C>T n.3108C>T c.3880C>T c.5085C>T (p.Ala1695=) n.823C>T c.5028C>T (p.Ala1676=) c.5094C>T (p.Ala1698=) c.5019C>T (p.Ala1673=) n.2874C>T c.5151C>T (p.Ala1717=) c.5097C>T (p.Ala1699=) c.5112C>T (p.Ala1704=) c.5022C>T (p.Ala1674=) c.5147C>T n.3310C>T c.5220C>T (p.Ala1740=) n.4041C>T n.2478C>T n.2449C>T n.2339C>T c.4881C>T (p.Ala1627=) c.*4393C>T (n.*4393C>T) c.4917C>T (p.Ala1639=) n.2949C>T c.1408C>T n.2341C>T c.5280C>T (p.Ala1760=) c.5277C>T (p.Ala1759=) c.5169C>T (p.Ala1723=) c.5148C>T (p.Ala1716=) c.4494C>T (p.Ala1498=) c.5442C>T (p.Ala1814=) c.5190C>T (p.Ala1730=) c.3936C>T (p.Ala1312=) | ClinVar |
16 | g.2088292_2088309del | CA913184879 | TSC2 | c.*3575_*3592del (n.*3575_*3592del) c.5073_5090del (p.Arg1692_Lys1697del) c.5223_5240del (p.Arg1742_Lys1747del) c.*5739_*5756del (n.*5739_*5756del) c.*7975_*7992del (n.*7975_*7992del) c.5226_5243del (p.Arg1743_Lys1748del) c.5157_5174del (p.Arg1720_Lys1725del) c.5025_5042del (p.Arg1676_Lys1681del) c.5058_5075del (p.Arg1687_Lys1692del) c.1449_1466del n.3108_3125del c.3880_3897del c.5085_5102del (p.Arg1696_Lys1701del) n.823_840del c.5028_5045del (p.Arg1677_Lys1682del) c.5094_5111del (p.Arg1699_Lys1704del) c.5019_5036del (p.Arg1674_Lys1679del) n.2874_2891del c.5151_5168del (p.Arg1718_Lys1723del) c.5097_5114del (p.Arg1700_Lys1705del) c.5112_5129del (p.Arg1705_Lys1710del) c.5022_5039del (p.Arg1675_Lys1680del) c.5147_5164del n.3310_3327del c.5220_5237del (p.Arg1741_Lys1746del) n.4041_4058del n.2478_2495del n.2449_2466del n.2339_2356del c.4881_4898del (p.Arg1628_Lys1633del) c.*4393_*4410del (n.*4393_*4410del) c.4917_4934del (p.Arg1640_Lys1645del) n.2949_2966del c.1408_1425del n.2341_2358del c.5280_5297del (p.Arg1761_Lys1766del) c.5277_5294del (p.Arg1760_Lys1765del) c.5169_5186del (p.Arg1724_Lys1729del) c.5148_5165del (p.Arg1717_Lys1722del) c.4494_4511del (p.Arg1499_Lys1504del) c.5442_5459del (p.Arg1815_Lys1820del) c.5190_5207del (p.Arg1731_Lys1736del) c.3936_3953del (p.Arg1313_Lys1318del) | ClinVar dbSNP |
16 | g.2088292_2088310delinsCCGGCTCCGCCACATCAAG | CA2202032440 | TSC2 | c.*3575_*3593delinsCCGGCTCCGCCACATCAAG (n.*3575_*3593delinsCCGGCTCCGCCACATCAAG) c.5073_5091delinsCCGGCTCCGCCACATCAAG (p.Ala1691=) c.5223_5241delinsCCGGCTCCGCCACATCAAG (p.Ala1741=) c.*5739_*5757delinsCCGGCTCCGCCACATCAAG (n.*5739_*5757delinsCCGGCTCCGCCACATCAAG) c.*7975_*7993delinsCCGGCTCCGCCACATCAAG (n.*7975_*7993delinsCCGGCTCCGCCACATCAAG) c.5226_5244delinsCCGGCTCCGCCACATCAAG (p.Ala1742=) c.5157_5175delinsCCGGCTCCGCCACATCAAG (p.Ala1719=) c.5025_5043delinsCCGGCTCCGCCACATCAAG (p.Ala1675=) c.5058_5076delinsCCGGCTCCGCCACATCAAG (p.Ala1686=) c.1449_1467delinsCCGGCTCCGCCACATCAAG n.3108_3126delinsCCGGCTCCGCCACATCAAG c.3880_3898delinsCCGGCTCCGCCACATCAAG c.5085_5103delinsCCGGCTCCGCCACATCAAG (p.Ala1695=) n.823_841delinsCCGGCTCCGCCACATCAAG c.5028_5046delinsCCGGCTCCGCCACATCAAG (p.Ala1676=) c.5094_5112delinsCCGGCTCCGCCACATCAAG (p.Ala1698=) c.5019_5037delinsCCGGCTCCGCCACATCAAG (p.Ala1673=) n.2874_2892delinsCCGGCTCCGCCACATCAAG c.5151_5169delinsCCGGCTCCGCCACATCAAG (p.Ala1717=) c.5097_5115delinsCCGGCTCCGCCACATCAAG (p.Ala1699=) c.5112_5130delinsCCGGCTCCGCCACATCAAG (p.Ala1704=) c.5022_5040delinsCCGGCTCCGCCACATCAAG (p.Ala1674=) c.5147_5165delinsCCGGCTCCGCCACATCAAG n.3310_3328delinsCCGGCTCCGCCACATCAAG c.5220_5238delinsCCGGCTCCGCCACATCAAG (p.Ala1740=) n.4041_4059delinsCCGGCTCCGCCACATCAAG n.2478_2496delinsCCGGCTCCGCCACATCAAG n.2449_2467delinsCCGGCTCCGCCACATCAAG n.2339_2357delinsCCGGCTCCGCCACATCAAG c.4881_4899delinsCCGGCTCCGCCACATCAAG (p.Ala1627=) c.*4393_*4411delinsCCGGCTCCGCCACATCAAG (n.*4393_*4411delinsCCGGCTCCGCCACATCAAG) c.4917_4935delinsCCGGCTCCGCCACATCAAG (p.Ala1639=) n.2949_2967delinsCCGGCTCCGCCACATCAAG c.1408_1426delinsCCGGCTCCGCCACATCAAG n.2341_2359delinsCCGGCTCCGCCACATCAAG c.5280_5298delinsCCGGCTCCGCCACATCAAG (p.Ala1760=) c.5277_5295delinsCCGGCTCCGCCACATCAAG (p.Ala1759=) c.5169_5187delinsCCGGCTCCGCCACATCAAG (p.Ala1723=) c.5148_5166delinsCCGGCTCCGCCACATCAAG (p.Ala1716=) c.4494_4512delinsCCGGCTCCGCCACATCAAG (p.Ala1498=) c.5442_5460delinsCCGGCTCCGCCACATCAAG (p.Ala1814=) c.5190_5208delinsCCGGCTCCGCCACATCAAG (p.Ala1730=) c.3936_3954delinsCCGGCTCCGCCACATCAAG (p.Ala1312=) | |
16 | g.2088293C>A | CA493043825 | TSC2 | c.*3576C>A (n.*3576C>A) c.5074C>A (p.Arg1692=) c.5224C>A (p.Arg1742=) c.*5740C>A (n.*5740C>A) c.*7976C>A (n.*7976C>A) c.5227C>A (p.Arg1743=) c.5158C>A (p.Arg1720=) c.5026C>A (p.Arg1676=) c.5059C>A (p.Arg1687=) c.1450C>A n.3109C>A c.3881C>A c.5086C>A (p.Arg1696=) n.824C>A c.5029C>A (p.Arg1677=) c.5095C>A (p.Arg1699=) c.5020C>A (p.Arg1674=) n.2875C>A c.5152C>A (p.Arg1718=) c.5098C>A (p.Arg1700=) c.5113C>A (p.Arg1705=) c.5023C>A (p.Arg1675=) c.5148C>A n.3311C>A c.5221C>A (p.Arg1741=) n.4042C>A n.2479C>A n.2450C>A n.2340C>A c.4882C>A (p.Arg1628=) c.*4394C>A (n.*4394C>A) c.4918C>A (p.Arg1640=) n.2950C>A c.1409C>A n.2342C>A c.5281C>A (p.Arg1761=) c.5278C>A (p.Arg1760=) c.5170C>A (p.Arg1724=) c.5149C>A (p.Arg1717=) c.4495C>A (p.Arg1499=) c.5443C>A (p.Arg1815=) c.5191C>A (p.Arg1731=) c.3937C>A (p.Arg1313=) | dbSNP |
16 | g.2088293C= | CA2202032472 | TSC2 | c.*3576C= (n.*3576C=) c.5074C= (p.Arg1692=) c.5224C= (p.Arg1742=) c.*5740C= (n.*5740C=) c.*7976C= (n.*7976C=) c.5227C= (p.Arg1743=) c.5158C= (p.Arg1720=) c.5026C= (p.Arg1676=) c.5059C= (p.Arg1687=) c.1450C= n.3109C= c.3881C= c.5086C= (p.Arg1696=) n.824C= c.5029C= (p.Arg1677=) c.5095C= (p.Arg1699=) c.5020C= (p.Arg1674=) n.2875C= c.5152C= (p.Arg1718=) c.5098C= (p.Arg1700=) c.5113C= (p.Arg1705=) c.5023C= (p.Arg1675=) c.5148C= n.3311C= c.5221C= (p.Arg1741=) n.4042C= n.2479C= n.2450C= n.2340C= c.4882C= (p.Arg1628=) c.*4394C= (n.*4394C=) c.4918C= (p.Arg1640=) n.2950C= c.1409C= n.2342C= c.5281C= (p.Arg1761=) c.5278C= (p.Arg1760=) c.5170C= (p.Arg1724=) c.5149C= (p.Arg1717=) c.4495C= (p.Arg1499=) c.5443C= (p.Arg1815=) c.5191C= (p.Arg1731=) c.3937C= (p.Arg1313=) | |
16 | g.2088293C>G | CA022207 | TSC2 | c.*3576C>G (n.*3576C>G) c.5074C>G (p.Arg1692Gly) c.5224C>G (p.Arg1742Gly) c.*5740C>G (n.*5740C>G) c.*7976C>G (n.*7976C>G) c.5227C>G (p.Arg1743Gly) c.5158C>G (p.Arg1720Gly) c.5026C>G (p.Arg1676Gly) c.5059C>G (p.Arg1687Gly) c.1450C>G n.3109C>G c.3881C>G c.5086C>G (p.Arg1696Gly) n.824C>G c.5029C>G (p.Arg1677Gly) c.5095C>G (p.Arg1699Gly) c.5020C>G (p.Arg1674Gly) n.2875C>G c.5152C>G (p.Arg1718Gly) c.5098C>G (p.Arg1700Gly) c.5113C>G (p.Arg1705Gly) c.5023C>G (p.Arg1675Gly) c.5148C>G n.3311C>G c.5221C>G (p.Arg1741Gly) n.4042C>G n.2479C>G n.2450C>G n.2340C>G c.4882C>G (p.Arg1628Gly) c.*4394C>G (n.*4394C>G) c.4918C>G (p.Arg1640Gly) n.2950C>G c.1409C>G n.2342C>G c.5281C>G (p.Arg1761Gly) c.5278C>G (p.Arg1760Gly) c.5170C>G (p.Arg1724Gly) c.5149C>G (p.Arg1717Gly) c.4495C>G (p.Arg1499Gly) c.5443C>G (p.Arg1815Gly) c.5191C>G (p.Arg1731Gly) c.3937C>G (p.Arg1313Gly) | ClinVar dbSNP |
16 | g.2088293C>T | CA022213 | TSC2 | c.*3576C>T (n.*3576C>T) c.5074C>T (p.Arg1692Trp) c.5224C>T (p.Arg1742Trp) c.*5740C>T (n.*5740C>T) c.*7976C>T (n.*7976C>T) c.5227C>T (p.Arg1743Trp) c.5158C>T (p.Arg1720Trp) c.5026C>T (p.Arg1676Trp) c.5059C>T (p.Arg1687Trp) c.1450C>T n.3109C>T c.3881C>T c.5086C>T (p.Arg1696Trp) n.824C>T c.5029C>T (p.Arg1677Trp) c.5095C>T (p.Arg1699Trp) c.5020C>T (p.Arg1674Trp) n.2875C>T c.5152C>T (p.Arg1718Trp) c.5098C>T (p.Arg1700Trp) c.5113C>T (p.Arg1705Trp) c.5023C>T (p.Arg1675Trp) c.5148C>T n.3311C>T c.5221C>T (p.Arg1741Trp) n.4042C>T n.2479C>T n.2450C>T n.2340C>T c.4882C>T (p.Arg1628Trp) c.*4394C>T (n.*4394C>T) c.4918C>T (p.Arg1640Trp) n.2950C>T c.1409C>T n.2342C>T c.5281C>T (p.Arg1761Trp) c.5278C>T (p.Arg1760Trp) c.5170C>T (p.Arg1724Trp) c.5149C>T (p.Arg1717Trp) c.4495C>T (p.Arg1499Trp) c.5443C>T (p.Arg1815Trp) c.5191C>T (p.Arg1731Trp) c.3937C>T (p.Arg1313Trp) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
16 | g.2088304_2088321dup | CA620705069 | TSC2 | c.*3587_*3604dup (n.*3587_*3604dup) c.5085_5102dup (p.Arg1700_Gln1701insHisIleLysArgLeuArg) c.5235_5252dup (p.Arg1750_Gln1751insHisIleLysArgLeuArg) c.*5751_*5768dup (n.*5751_*5768dup) c.*7987_*8004dup (n.*7987_*8004dup) c.5238_5255dup (p.Arg1751_Gln1752insHisIleLysArgLeuArg) c.5169_5186dup (p.Arg1728_Gln1729insHisIleLysArgLeuArg) c.5037_5054dup (p.Arg1684_Gln1685insHisIleLysArgLeuArg) c.5070_5087dup (p.Arg1695_Gln1696insHisIleLysArgLeuArg) c.1461_1478dup n.3120_3137dup c.3892_3909dup c.5097_5114dup (p.Arg1704_Gln1705insHisIleLysArgLeuArg) n.835_852dup c.5040_5057dup (p.Arg1685_Gln1686insHisIleLysArgLeuArg) c.5106_5123dup (p.Arg1707_Gln1708insHisIleLysArgLeuArg) c.5031_5048dup (p.Arg1682_Gln1683insHisIleLysArgLeuArg) n.2886_2903dup c.5163_5180dup (p.Arg1726_Gln1727insHisIleLysArgLeuArg) c.5109_5126dup (p.Arg1708_Gln1709insHisIleLysArgLeuArg) c.5124_5141dup (p.Arg1713_Gln1714insHisIleLysArgLeuArg) c.5034_5051dup (p.Arg1683_Gln1684insHisIleLysArgLeuArg) c.5159_5176dup n.3322_3339dup c.5232_5249dup (p.Arg1749_Gln1750insHisIleLysArgLeuArg) n.4053_4070dup n.2490_2507dup n.2461_2478dup n.2351_2368dup c.4893_4910dup (p.Arg1636_Gln1637insHisIleLysArgLeuArg) c.*4405_*4422dup (n.*4405_*4422dup) c.4929_4946dup (p.Arg1648_Gln1649insHisIleLysArgLeuArg) n.2961_2978dup c.1420_1437dup n.2353_2370dup c.5292_5309dup (p.Arg1769_Gln1770insHisIleLysArgLeuArg) c.5289_5306dup (p.Arg1768_Gln1769insHisIleLysArgLeuArg) c.5181_5198dup (p.Arg1732_Gln1733insHisIleLysArgLeuArg) c.5160_5177dup (p.Arg1725_Gln1726insHisIleLysArgLeuArg) c.4506_4523dup (p.Arg1507_Gln1508insHisIleLysArgLeuArg) c.5454_5471dup (p.Arg1823_Gln1824insHisIleLysArgLeuArg) c.5202_5219dup (p.Arg1739_Gln1740insHisIleLysArgLeuArg) c.3948_3965dup (p.Arg1321_Gln1322insHisIleLysArgLeuArg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088304_2088321del | CA022197 | TSC2 | c.*3587_*3604del (n.*3587_*3604del) c.5085_5102del (p.His1695_Arg1700del) c.5235_5252del (p.His1745_Arg1750del) c.*5751_*5768del (n.*5751_*5768del) c.*7987_*8004del (n.*7987_*8004del) c.5238_5255del (p.His1746_Arg1751del) c.5169_5186del (p.His1723_Arg1728del) c.5037_5054del (p.His1679_Arg1684del) c.5070_5087del (p.His1690_Arg1695del) c.1461_1478del n.3120_3137del c.3892_3909del c.5097_5114del (p.His1699_Arg1704del) n.835_852del c.5040_5057del (p.His1680_Arg1685del) c.5106_5123del (p.His1702_Arg1707del) c.5031_5048del (p.His1677_Arg1682del) n.2886_2903del c.5163_5180del (p.His1721_Arg1726del) c.5109_5126del (p.His1703_Arg1708del) c.5124_5141del (p.His1708_Arg1713del) c.5034_5051del (p.His1678_Arg1683del) c.5159_5176del n.3322_3339del c.5232_5249del (p.His1744_Arg1749del) n.4053_4070del n.2490_2507del n.2461_2478del n.2351_2368del c.4893_4910del (p.His1631_Arg1636del) c.*4405_*4422del (n.*4405_*4422del) c.4929_4946del (p.His1643_Arg1648del) n.2961_2978del c.1420_1437del n.2353_2370del c.5292_5309del (p.His1764_Arg1769del) c.5289_5306del (p.His1763_Arg1768del) c.5181_5198del (p.His1727_Arg1732del) c.5160_5177del (p.His1720_Arg1725del) c.4506_4523del (p.His1502_Arg1507del) c.5454_5471del (p.His1818_Arg1823del) c.5202_5219del (p.His1734_Arg1739del) c.3948_3965del (p.His1316_Arg1321del) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.2088294G>A | CA022218 | TSC2 | c.*3577G>A (n.*3577G>A) c.5075G>A (p.Arg1692Gln) c.5225G>A (p.Arg1742Gln) c.*5741G>A (n.*5741G>A) c.*7977G>A (n.*7977G>A) c.5228G>A (p.Arg1743Gln) c.5159G>A (p.Arg1720Gln) c.5027G>A (p.Arg1676Gln) c.5060G>A (p.Arg1687Gln) c.1451G>A n.3110G>A c.3882G>A c.5087G>A (p.Arg1696Gln) n.825G>A c.5030G>A (p.Arg1677Gln) c.5096G>A (p.Arg1699Gln) c.5021G>A (p.Arg1674Gln) n.2876G>A c.5153G>A (p.Arg1718Gln) c.5099G>A (p.Arg1700Gln) c.5114G>A (p.Arg1705Gln) c.5024G>A (p.Arg1675Gln) c.5149G>A n.3312G>A c.5222G>A (p.Arg1741Gln) n.4043G>A n.2480G>A n.2451G>A n.2341G>A c.4883G>A (p.Arg1628Gln) c.*4395G>A (n.*4395G>A) c.4919G>A (p.Arg1640Gln) n.2951G>A c.1410G>A n.2343G>A c.5282G>A (p.Arg1761Gln) c.5279G>A (p.Arg1760Gln) c.5171G>A (p.Arg1724Gln) c.5150G>A (p.Arg1717Gln) c.4496G>A (p.Arg1499Gln) c.5444G>A (p.Arg1815Gln) c.5192G>A (p.Arg1731Gln) c.3938G>A (p.Arg1313Gln) | ClinVar dbSNP gnomAD v2 COSMIC |
16 | g.2088294G>C | CA022224 | TSC2 | c.*3577G>C (n.*3577G>C) c.5075G>C (p.Arg1692Pro) c.5225G>C (p.Arg1742Pro) c.*5741G>C (n.*5741G>C) c.*7977G>C (n.*7977G>C) c.5228G>C (p.Arg1743Pro) c.5159G>C (p.Arg1720Pro) c.5027G>C (p.Arg1676Pro) c.5060G>C (p.Arg1687Pro) c.1451G>C n.3110G>C c.3882G>C c.5087G>C (p.Arg1696Pro) n.825G>C c.5030G>C (p.Arg1677Pro) c.5096G>C (p.Arg1699Pro) c.5021G>C (p.Arg1674Pro) n.2876G>C c.5153G>C (p.Arg1718Pro) c.5099G>C (p.Arg1700Pro) c.5114G>C (p.Arg1705Pro) c.5024G>C (p.Arg1675Pro) c.5149G>C n.3312G>C c.5222G>C (p.Arg1741Pro) n.4043G>C n.2480G>C n.2451G>C n.2341G>C c.4883G>C (p.Arg1628Pro) c.*4395G>C (n.*4395G>C) c.4919G>C (p.Arg1640Pro) n.2951G>C c.1410G>C n.2343G>C c.5282G>C (p.Arg1761Pro) c.5279G>C (p.Arg1760Pro) c.5171G>C (p.Arg1724Pro) c.5150G>C (p.Arg1717Pro) c.4496G>C (p.Arg1499Pro) c.5444G>C (p.Arg1815Pro) c.5192G>C (p.Arg1731Pro) c.3938G>C (p.Arg1313Pro) | ClinVar dbSNP |
16 | g.2088294G= | CA2202032481 | TSC2 | c.*3577G= (n.*3577G=) c.5075G= (p.Arg1692=) c.5225G= (p.Arg1742=) c.*5741G= (n.*5741G=) c.*7977G= (n.*7977G=) c.5228G= (p.Arg1743=) c.5159G= (p.Arg1720=) c.5027G= (p.Arg1676=) c.5060G= (p.Arg1687=) c.1451G= n.3110G= c.3882G= c.5087G= (p.Arg1696=) n.825G= c.5030G= (p.Arg1677=) c.5096G= (p.Arg1699=) c.5021G= (p.Arg1674=) n.2876G= c.5153G= (p.Arg1718=) c.5099G= (p.Arg1700=) c.5114G= (p.Arg1705=) c.5024G= (p.Arg1675=) c.5149G= n.3312G= c.5222G= (p.Arg1741=) n.4043G= n.2480G= n.2451G= n.2341G= c.4883G= (p.Arg1628=) c.*4395G= (n.*4395G=) c.4919G= (p.Arg1640=) n.2951G= c.1410G= n.2343G= c.5282G= (p.Arg1761=) c.5279G= (p.Arg1760=) c.5171G= (p.Arg1724=) c.5150G= (p.Arg1717=) c.4496G= (p.Arg1499=) c.5444G= (p.Arg1815=) c.5192G= (p.Arg1731=) c.3938G= (p.Arg1313=) | |
16 | g.2088294G>T | CA022229 | TSC2 | c.*3577G>T (n.*3577G>T) c.5075G>T (p.Arg1692Leu) c.5225G>T (p.Arg1742Leu) c.*5741G>T (n.*5741G>T) c.*7977G>T (n.*7977G>T) c.5228G>T (p.Arg1743Leu) c.5159G>T (p.Arg1720Leu) c.5027G>T (p.Arg1676Leu) c.5060G>T (p.Arg1687Leu) c.1451G>T n.3110G>T c.3882G>T c.5087G>T (p.Arg1696Leu) n.825G>T c.5030G>T (p.Arg1677Leu) c.5096G>T (p.Arg1699Leu) c.5021G>T (p.Arg1674Leu) n.2876G>T c.5153G>T (p.Arg1718Leu) c.5099G>T (p.Arg1700Leu) c.5114G>T (p.Arg1705Leu) c.5024G>T (p.Arg1675Leu) c.5149G>T n.3312G>T c.5222G>T (p.Arg1741Leu) n.4043G>T n.2480G>T n.2451G>T n.2341G>T c.4883G>T (p.Arg1628Leu) c.*4395G>T (n.*4395G>T) c.4919G>T (p.Arg1640Leu) n.2951G>T c.1410G>T n.2343G>T c.5282G>T (p.Arg1761Leu) c.5279G>T (p.Arg1760Leu) c.5171G>T (p.Arg1724Leu) c.5150G>T (p.Arg1717Leu) c.4496G>T (p.Arg1499Leu) c.5444G>T (p.Arg1815Leu) c.5192G>T (p.Arg1731Leu) c.3938G>T (p.Arg1313Leu) | ClinVar dbSNP |
16 | g.2088294_2088295delinsAA | CA645572657 | TSC2 | c.*3577_*3578delinsAA (n.*3577_*3578delinsAA) c.5075_5076delinsAA (p.Arg1692Gln) c.5225_5226delinsAA (p.Arg1742Gln) c.*5741_*5742delinsAA (n.*5741_*5742delinsAA) c.*7977_*7978delinsAA (n.*7977_*7978delinsAA) c.5228_5229delinsAA (p.Arg1743Gln) c.5159_5160delinsAA (p.Arg1720Gln) c.5027_5028delinsAA (p.Arg1676Gln) c.5060_5061delinsAA (p.Arg1687Gln) c.1451_1452delinsAA n.3110_3111delinsAA c.3882_3883delinsAA c.5087_5088delinsAA (p.Arg1696Gln) n.825_826delinsAA c.5030_5031delinsAA (p.Arg1677Gln) c.5096_5097delinsAA (p.Arg1699Gln) c.5021_5022delinsAA (p.Arg1674Gln) n.2876_2877delinsAA c.5153_5154delinsAA (p.Arg1718Gln) c.5099_5100delinsAA (p.Arg1700Gln) c.5114_5115delinsAA (p.Arg1705Gln) c.5024_5025delinsAA (p.Arg1675Gln) c.5149_5150delinsAA n.3312_3313delinsAA c.5222_5223delinsAA (p.Arg1741Gln) n.4043_4044delinsAA n.2480_2481delinsAA n.2451_2452delinsAA n.2341_2342delinsAA c.4883_4884delinsAA (p.Arg1628Gln) c.*4395_*4396delinsAA (n.*4395_*4396delinsAA) c.4919_4920delinsAA (p.Arg1640Gln) n.2951_2952delinsAA c.1410_1411delinsAA n.2343_2344delinsAA c.5282_5283delinsAA (p.Arg1761Gln) c.5279_5280delinsAA (p.Arg1760Gln) c.5171_5172delinsAA (p.Arg1724Gln) c.5150_5151delinsAA (p.Arg1717Gln) c.4496_4497delinsAA (p.Arg1499Gln) c.5444_5445delinsAA (p.Arg1815Gln) c.5192_5193delinsAA (p.Arg1731Gln) c.3938_3939delinsAA (p.Arg1313Gln) | COSMIC |
16 | g.2088295G>A | CA493043827 | TSC2 | c.*3578G>A (n.*3578G>A) c.5076G>A (p.Arg1692=) c.5226G>A (p.Arg1742=) c.*5742G>A (n.*5742G>A) c.*7978G>A (n.*7978G>A) c.5229G>A (p.Arg1743=) c.5160G>A (p.Arg1720=) c.5028G>A (p.Arg1676=) c.5061G>A (p.Arg1687=) c.1452G>A n.3111G>A c.3883G>A c.5088G>A (p.Arg1696=) n.826G>A c.5031G>A (p.Arg1677=) c.5097G>A (p.Arg1699=) c.5022G>A (p.Arg1674=) n.2877G>A c.5154G>A (p.Arg1718=) c.5100G>A (p.Arg1700=) c.5115G>A (p.Arg1705=) c.5025G>A (p.Arg1675=) c.5150G>A n.3313G>A c.5223G>A (p.Arg1741=) n.4044G>A n.2481G>A n.2452G>A n.2342G>A c.4884G>A (p.Arg1628=) c.*4396G>A (n.*4396G>A) c.4920G>A (p.Arg1640=) n.2952G>A c.1411G>A n.2344G>A c.5283G>A (p.Arg1761=) c.5280G>A (p.Arg1760=) c.5172G>A (p.Arg1724=) c.5151G>A (p.Arg1717=) c.4497G>A (p.Arg1499=) c.5445G>A (p.Arg1815=) c.5193G>A (p.Arg1731=) c.3939G>A (p.Arg1313=) | dbSNP |
16 | g.2088295G>C | CA493043830 | TSC2 | c.*3578G>C (n.*3578G>C) c.5076G>C (p.Arg1692=) c.5226G>C (p.Arg1742=) c.*5742G>C (n.*5742G>C) c.*7978G>C (n.*7978G>C) c.5229G>C (p.Arg1743=) c.5160G>C (p.Arg1720=) c.5028G>C (p.Arg1676=) c.5061G>C (p.Arg1687=) c.1452G>C n.3111G>C c.3883G>C c.5088G>C (p.Arg1696=) n.826G>C c.5031G>C (p.Arg1677=) c.5097G>C (p.Arg1699=) c.5022G>C (p.Arg1674=) n.2877G>C c.5154G>C (p.Arg1718=) c.5100G>C (p.Arg1700=) c.5115G>C (p.Arg1705=) c.5025G>C (p.Arg1675=) c.5150G>C n.3313G>C c.5223G>C (p.Arg1741=) n.4044G>C n.2481G>C n.2452G>C n.2342G>C c.4884G>C (p.Arg1628=) c.*4396G>C (n.*4396G>C) c.4920G>C (p.Arg1640=) n.2952G>C c.1411G>C n.2344G>C c.5283G>C (p.Arg1761=) c.5280G>C (p.Arg1760=) c.5172G>C (p.Arg1724=) c.5151G>C (p.Arg1717=) c.4497G>C (p.Arg1499=) c.5445G>C (p.Arg1815=) c.5193G>C (p.Arg1731=) c.3939G>C (p.Arg1313=) | dbSNP |
16 | g.2088295G= | CA2202032493 | TSC2 | c.*3578G= (n.*3578G=) c.5076G= (p.Arg1692=) c.5226G= (p.Arg1742=) c.*5742G= (n.*5742G=) c.*7978G= (n.*7978G=) c.5229G= (p.Arg1743=) c.5160G= (p.Arg1720=) c.5028G= (p.Arg1676=) c.5061G= (p.Arg1687=) c.1452G= n.3111G= c.3883G= c.5088G= (p.Arg1696=) n.826G= c.5031G= (p.Arg1677=) c.5097G= (p.Arg1699=) c.5022G= (p.Arg1674=) n.2877G= c.5154G= (p.Arg1718=) c.5100G= (p.Arg1700=) c.5115G= (p.Arg1705=) c.5025G= (p.Arg1675=) c.5150G= n.3313G= c.5223G= (p.Arg1741=) n.4044G= n.2481G= n.2452G= n.2342G= c.4884G= (p.Arg1628=) c.*4396G= (n.*4396G=) c.4920G= (p.Arg1640=) n.2952G= c.1411G= n.2344G= c.5283G= (p.Arg1761=) c.5280G= (p.Arg1760=) c.5172G= (p.Arg1724=) c.5151G= (p.Arg1717=) c.4497G= (p.Arg1499=) c.5445G= (p.Arg1815=) c.5193G= (p.Arg1731=) c.3939G= (p.Arg1313=) | |
16 | g.2088295G>T | CA493043828 | TSC2 | c.*3578G>T (n.*3578G>T) c.5076G>T (p.Arg1692=) c.5226G>T (p.Arg1742=) c.*5742G>T (n.*5742G>T) c.*7978G>T (n.*7978G>T) c.5229G>T (p.Arg1743=) c.5160G>T (p.Arg1720=) c.5028G>T (p.Arg1676=) c.5061G>T (p.Arg1687=) c.1452G>T n.3111G>T c.3883G>T c.5088G>T (p.Arg1696=) n.826G>T c.5031G>T (p.Arg1677=) c.5097G>T (p.Arg1699=) c.5022G>T (p.Arg1674=) n.2877G>T c.5154G>T (p.Arg1718=) c.5100G>T (p.Arg1700=) c.5115G>T (p.Arg1705=) c.5025G>T (p.Arg1675=) c.5150G>T n.3313G>T c.5223G>T (p.Arg1741=) n.4044G>T n.2481G>T n.2452G>T n.2342G>T c.4884G>T (p.Arg1628=) c.*4396G>T (n.*4396G>T) c.4920G>T (p.Arg1640=) n.2952G>T c.1411G>T n.2344G>T c.5283G>T (p.Arg1761=) c.5280G>T (p.Arg1760=) c.5172G>T (p.Arg1724=) c.5151G>T (p.Arg1717=) c.4497G>T (p.Arg1499=) c.5445G>T (p.Arg1815=) c.5193G>T (p.Arg1731=) c.3939G>T (p.Arg1313=) | dbSNP gnomAD v4 |
16 | g.2088295_2088302delinsGCTCCGCC | CA2202032491 | TSC2 | c.*3578_*3585delinsGCTCCGCC (n.*3578_*3585delinsGCTCCGCC) c.5076_5083delinsGCTCCGCC (p.Arg1692=) c.5226_5233delinsGCTCCGCC (p.Arg1742=) c.*5742_*5749delinsGCTCCGCC (n.*5742_*5749delinsGCTCCGCC) c.*7978_*7985delinsGCTCCGCC (n.*7978_*7985delinsGCTCCGCC) c.5229_5236delinsGCTCCGCC (p.Arg1743=) c.5160_5167delinsGCTCCGCC (p.Arg1720=) c.5028_5035delinsGCTCCGCC (p.Arg1676=) c.5061_5068delinsGCTCCGCC (p.Arg1687=) c.1452_1459delinsGCTCCGCC n.3111_3118delinsGCTCCGCC c.3883_3890delinsGCTCCGCC c.5088_5095delinsGCTCCGCC (p.Arg1696=) n.826_833delinsGCTCCGCC c.5031_5038delinsGCTCCGCC (p.Arg1677=) c.5097_5104delinsGCTCCGCC (p.Arg1699=) c.5022_5029delinsGCTCCGCC (p.Arg1674=) n.2877_2884delinsGCTCCGCC c.5154_5161delinsGCTCCGCC (p.Arg1718=) c.5100_5107delinsGCTCCGCC (p.Arg1700=) c.5115_5122delinsGCTCCGCC (p.Arg1705=) c.5025_5032delinsGCTCCGCC (p.Arg1675=) c.5150_5157delinsGCTCCGCC n.3313_3320delinsGCTCCGCC c.5223_5230delinsGCTCCGCC (p.Arg1741=) n.4044_4051delinsGCTCCGCC n.2481_2488delinsGCTCCGCC n.2452_2459delinsGCTCCGCC n.2342_2349delinsGCTCCGCC c.4884_4891delinsGCTCCGCC (p.Arg1628=) c.*4396_*4403delinsGCTCCGCC (n.*4396_*4403delinsGCTCCGCC) c.4920_4927delinsGCTCCGCC (p.Arg1640=) n.2952_2959delinsGCTCCGCC c.1411_1418delinsGCTCCGCC n.2344_2351delinsGCTCCGCC c.5283_5290delinsGCTCCGCC (p.Arg1761=) c.5280_5287delinsGCTCCGCC (p.Arg1760=) c.5172_5179delinsGCTCCGCC (p.Arg1724=) c.5151_5158delinsGCTCCGCC (p.Arg1717=) c.4497_4504delinsGCTCCGCC (p.Arg1499=) c.5445_5452delinsGCTCCGCC (p.Arg1815=) c.5193_5200delinsGCTCCGCC (p.Arg1731=) c.3939_3946delinsGCTCCGCC (p.Arg1313=) | |
16 | g.2088296C>A | CA394314558 | TSC2 | c.*3579C>A (n.*3579C>A) c.5077C>A (p.Leu1693Ile) c.5227C>A (p.Leu1743Ile) c.*5743C>A (n.*5743C>A) c.*7979C>A (n.*7979C>A) c.5230C>A (p.Leu1744Ile) c.5161C>A (p.Leu1721Ile) c.5029C>A (p.Leu1677Ile) c.5062C>A (p.Leu1688Ile) c.1453C>A n.3112C>A c.3884C>A c.5089C>A (p.Leu1697Ile) n.827C>A c.5032C>A (p.Leu1678Ile) c.5098C>A (p.Leu1700Ile) c.5023C>A (p.Leu1675Ile) n.2878C>A c.5155C>A (p.Leu1719Ile) c.5101C>A (p.Leu1701Ile) c.5116C>A (p.Leu1706Ile) c.5026C>A (p.Leu1676Ile) c.5151C>A n.3314C>A c.5224C>A (p.Leu1742Ile) n.4045C>A n.2482C>A n.2453C>A n.2343C>A c.4885C>A (p.Leu1629Ile) c.*4397C>A (n.*4397C>A) c.4921C>A (p.Leu1641Ile) n.2953C>A c.1412C>A n.2345C>A c.5284C>A (p.Leu1762Ile) c.5281C>A (p.Leu1761Ile) c.5173C>A (p.Leu1725Ile) c.5152C>A (p.Leu1718Ile) c.4498C>A (p.Leu1500Ile) c.5446C>A (p.Leu1816Ile) c.5194C>A (p.Leu1732Ile) c.3940C>A (p.Leu1314Ile) | gnomAD v4 |
16 | g.2088296C= | CA2202032502 | TSC2 | c.*3579C= (n.*3579C=) c.5077C= (p.Leu1693=) c.5227C= (p.Leu1743=) c.*5743C= (n.*5743C=) c.*7979C= (n.*7979C=) c.5230C= (p.Leu1744=) c.5161C= (p.Leu1721=) c.5029C= (p.Leu1677=) c.5062C= (p.Leu1688=) c.1453C= n.3112C= c.3884C= c.5089C= (p.Leu1697=) n.827C= c.5032C= (p.Leu1678=) c.5098C= (p.Leu1700=) c.5023C= (p.Leu1675=) n.2878C= c.5155C= (p.Leu1719=) c.5101C= (p.Leu1701=) c.5116C= (p.Leu1706=) c.5026C= (p.Leu1676=) c.5151C= n.3314C= c.5224C= (p.Leu1742=) n.4045C= n.2482C= n.2453C= n.2343C= c.4885C= (p.Leu1629=) c.*4397C= (n.*4397C=) c.4921C= (p.Leu1641=) n.2953C= c.1412C= n.2345C= c.5284C= (p.Leu1762=) c.5281C= (p.Leu1761=) c.5173C= (p.Leu1725=) c.5152C= (p.Leu1718=) c.4498C= (p.Leu1500=) c.5446C= (p.Leu1816=) c.5194C= (p.Leu1732=) c.3940C= (p.Leu1314=) | |
16 | g.2088296C>G | CA394314564 | TSC2 | c.*3579C>G (n.*3579C>G) c.5077C>G (p.Leu1693Val) c.5227C>G (p.Leu1743Val) c.*5743C>G (n.*5743C>G) c.*7979C>G (n.*7979C>G) c.5230C>G (p.Leu1744Val) c.5161C>G (p.Leu1721Val) c.5029C>G (p.Leu1677Val) c.5062C>G (p.Leu1688Val) c.1453C>G n.3112C>G c.3884C>G c.5089C>G (p.Leu1697Val) n.827C>G c.5032C>G (p.Leu1678Val) c.5098C>G (p.Leu1700Val) c.5023C>G (p.Leu1675Val) n.2878C>G c.5155C>G (p.Leu1719Val) c.5101C>G (p.Leu1701Val) c.5116C>G (p.Leu1706Val) c.5026C>G (p.Leu1676Val) c.5151C>G n.3314C>G c.5224C>G (p.Leu1742Val) n.4045C>G n.2482C>G n.2453C>G n.2343C>G c.4885C>G (p.Leu1629Val) c.*4397C>G (n.*4397C>G) c.4921C>G (p.Leu1641Val) n.2953C>G c.1412C>G n.2345C>G c.5284C>G (p.Leu1762Val) c.5281C>G (p.Leu1761Val) c.5173C>G (p.Leu1725Val) c.5152C>G (p.Leu1718Val) c.4498C>G (p.Leu1500Val) c.5446C>G (p.Leu1816Val) c.5194C>G (p.Leu1732Val) c.3940C>G (p.Leu1314Val) | ClinVar |
16 | g.2088296C>T | CA394314566 | TSC2 | c.*3579C>T (n.*3579C>T) c.5077C>T (p.Leu1693Phe) c.5227C>T (p.Leu1743Phe) c.*5743C>T (n.*5743C>T) c.*7979C>T (n.*7979C>T) c.5230C>T (p.Leu1744Phe) c.5161C>T (p.Leu1721Phe) c.5029C>T (p.Leu1677Phe) c.5062C>T (p.Leu1688Phe) c.1453C>T n.3112C>T c.3884C>T c.5089C>T (p.Leu1697Phe) n.827C>T c.5032C>T (p.Leu1678Phe) c.5098C>T (p.Leu1700Phe) c.5023C>T (p.Leu1675Phe) n.2878C>T c.5155C>T (p.Leu1719Phe) c.5101C>T (p.Leu1701Phe) c.5116C>T (p.Leu1706Phe) c.5026C>T (p.Leu1676Phe) c.5151C>T n.3314C>T c.5224C>T (p.Leu1742Phe) n.4045C>T n.2482C>T n.2453C>T n.2343C>T c.4885C>T (p.Leu1629Phe) c.*4397C>T (n.*4397C>T) c.4921C>T (p.Leu1641Phe) n.2953C>T c.1412C>T n.2345C>T c.5284C>T (p.Leu1762Phe) c.5281C>T (p.Leu1761Phe) c.5173C>T (p.Leu1725Phe) c.5152C>T (p.Leu1718Phe) c.4498C>T (p.Leu1500Phe) c.5446C>T (p.Leu1816Phe) c.5194C>T (p.Leu1732Phe) c.3940C>T (p.Leu1314Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.2088296_2088302del | CA022235 | TSC2 | c.*3579_*3585del (n.*3579_*3585del) c.5077_5083del (p.Leu1693ThrfsTer?) c.5227_5233del (p.Leu1743ThrfsTer?) c.*5743_*5749del (n.*5743_*5749del) c.*7979_*7985del (n.*7979_*7985del) c.5230_5236del (p.Leu1744ThrfsTer?) c.5161_5167del (p.Leu1721ThrfsTer?) c.5029_5035del (p.Leu1677ThrfsTer?) c.5062_5068del (p.Leu1688ThrfsTer?) c.1453_1459del n.3112_3118del c.3884_3890del c.5089_5095del (p.Leu1697ThrfsTer?) n.827_833del c.5032_5038del (p.Leu1678ThrfsTer?) c.5098_5104del (p.Leu1700ThrfsTer?) c.5023_5029del (p.Leu1675ThrfsTer?) n.2878_2884del c.5155_5161del (p.Leu1719ThrfsTer?) c.5101_5107del (p.Leu1701ThrfsTer?) c.5116_5122del (p.Leu1706ThrfsTer?) c.5026_5032del (p.Leu1676ThrfsTer?) c.5151_5157del n.3314_3320del c.5224_5230del (p.Leu1742ThrfsTer?) n.4045_4051del n.2482_2488del n.2453_2459del n.2343_2349del c.4885_4891del (p.Leu1629ThrfsTer?) c.*4397_*4403del (n.*4397_*4403del) c.4921_4927del (p.Leu1641ThrfsTer?) n.2953_2959del c.1412_1418del n.2345_2351del c.5284_5290del (p.Leu1762ThrfsTer?) c.5281_5287del (p.Leu1761ThrfsTer?) c.5173_5179del (p.Leu1725ThrfsTer?) c.5152_5158del (p.Leu1718ThrfsTer?) c.4498_4504del (p.Leu1500ThrfsTer?) c.5446_5452del (p.Leu1816ThrfsTer?) c.5194_5200del (p.Leu1732ThrfsTer?) c.3940_3946del (p.Leu1314ThrfsTer?) | ClinVar dbSNP |
16 | g.2088297T>A | CA394314567 | TSC2 | c.*3580T>A (n.*3580T>A) c.5078T>A (p.Leu1693His) c.5228T>A (p.Leu1743His) c.*5744T>A (n.*5744T>A) c.*7980T>A (n.*7980T>A) c.5231T>A (p.Leu1744His) c.5162T>A (p.Leu1721His) c.5030T>A (p.Leu1677His) c.5063T>A (p.Leu1688His) c.1454T>A n.3113T>A c.3885T>A c.5090T>A (p.Leu1697His) n.828T>A c.5033T>A (p.Leu1678His) c.5099T>A (p.Leu1700His) c.5024T>A (p.Leu1675His) n.2879T>A c.5156T>A (p.Leu1719His) c.5102T>A (p.Leu1701His) c.5117T>A (p.Leu1706His) c.5027T>A (p.Leu1676His) c.5152T>A n.3315T>A c.5225T>A (p.Leu1742His) n.4046T>A n.2483T>A n.2454T>A n.2344T>A c.4886T>A (p.Leu1629His) c.*4398T>A (n.*4398T>A) c.4922T>A (p.Leu1641His) n.2954T>A c.1413T>A n.2346T>A c.5285T>A (p.Leu1762His) c.5282T>A (p.Leu1761His) c.5174T>A (p.Leu1725His) c.5153T>A (p.Leu1718His) c.4499T>A (p.Leu1500His) c.5447T>A (p.Leu1816His) c.5195T>A (p.Leu1732His) c.3941T>A (p.Leu1314His) | dbSNP |
16 | g.2088297T>C | CA022245 | TSC2 | c.*3580T>C (n.*3580T>C) c.5078T>C (p.Leu1693Pro) c.5228T>C (p.Leu1743Pro) c.*5744T>C (n.*5744T>C) c.*7980T>C (n.*7980T>C) c.5231T>C (p.Leu1744Pro) c.5162T>C (p.Leu1721Pro) c.5030T>C (p.Leu1677Pro) c.5063T>C (p.Leu1688Pro) c.1454T>C n.3113T>C c.3885T>C c.5090T>C (p.Leu1697Pro) n.828T>C c.5033T>C (p.Leu1678Pro) c.5099T>C (p.Leu1700Pro) c.5024T>C (p.Leu1675Pro) n.2879T>C c.5156T>C (p.Leu1719Pro) c.5102T>C (p.Leu1701Pro) c.5117T>C (p.Leu1706Pro) c.5027T>C (p.Leu1676Pro) c.5152T>C n.3315T>C c.5225T>C (p.Leu1742Pro) n.4046T>C n.2483T>C n.2454T>C n.2344T>C c.4886T>C (p.Leu1629Pro) c.*4398T>C (n.*4398T>C) c.4922T>C (p.Leu1641Pro) n.2954T>C c.1413T>C n.2346T>C c.5285T>C (p.Leu1762Pro) c.5282T>C (p.Leu1761Pro) c.5174T>C (p.Leu1725Pro) c.5153T>C (p.Leu1718Pro) c.4499T>C (p.Leu1500Pro) c.5447T>C (p.Leu1816Pro) c.5195T>C (p.Leu1732Pro) c.3941T>C (p.Leu1314Pro) | ClinVar dbSNP |
16 | g.2088297T>G | CA394314569 | TSC2 | c.*3580T>G (n.*3580T>G) c.5078T>G (p.Leu1693Arg) c.5228T>G (p.Leu1743Arg) c.*5744T>G (n.*5744T>G) c.*7980T>G (n.*7980T>G) c.5231T>G (p.Leu1744Arg) c.5162T>G (p.Leu1721Arg) c.5030T>G (p.Leu1677Arg) c.5063T>G (p.Leu1688Arg) c.1454T>G n.3113T>G c.3885T>G c.5090T>G (p.Leu1697Arg) n.828T>G c.5033T>G (p.Leu1678Arg) c.5099T>G (p.Leu1700Arg) c.5024T>G (p.Leu1675Arg) n.2879T>G c.5156T>G (p.Leu1719Arg) c.5102T>G (p.Leu1701Arg) c.5117T>G (p.Leu1706Arg) c.5027T>G (p.Leu1676Arg) c.5152T>G n.3315T>G c.5225T>G (p.Leu1742Arg) n.4046T>G n.2483T>G n.2454T>G n.2344T>G c.4886T>G (p.Leu1629Arg) c.*4398T>G (n.*4398T>G) c.4922T>G (p.Leu1641Arg) n.2954T>G c.1413T>G n.2346T>G c.5285T>G (p.Leu1762Arg) c.5282T>G (p.Leu1761Arg) c.5174T>G (p.Leu1725Arg) c.5153T>G (p.Leu1718Arg) c.4499T>G (p.Leu1500Arg) c.5447T>G (p.Leu1816Arg) c.5195T>G (p.Leu1732Arg) c.3941T>G (p.Leu1314Arg) | dbSNP gnomAD v4 |
16 | g.2088297T= | CA2202032520 | TSC2 | c.*3580T= (n.*3580T=) c.5078T= (p.Leu1693=) c.5228T= (p.Leu1743=) c.*5744T= (n.*5744T=) c.*7980T= (n.*7980T=) c.5231T= (p.Leu1744=) c.5162T= (p.Leu1721=) c.5030T= (p.Leu1677=) c.5063T= (p.Leu1688=) c.1454T= n.3113T= c.3885T= c.5090T= (p.Leu1697=) n.828T= c.5033T= (p.Leu1678=) c.5099T= (p.Leu1700=) c.5024T= (p.Leu1675=) n.2879T= c.5156T= (p.Leu1719=) c.5102T= (p.Leu1701=) c.5117T= (p.Leu1706=) c.5027T= (p.Leu1676=) c.5152T= n.3315T= c.5225T= (p.Leu1742=) n.4046T= n.2483T= n.2454T= n.2344T= c.4886T= (p.Leu1629=) c.*4398T= (n.*4398T=) c.4922T= (p.Leu1641=) n.2954T= c.1413T= n.2346T= c.5285T= (p.Leu1762=) c.5282T= (p.Leu1761=) c.5174T= (p.Leu1725=) c.5153T= (p.Leu1718=) c.4499T= (p.Leu1500=) c.5447T= (p.Leu1816=) c.5195T= (p.Leu1732=) c.3941T= (p.Leu1314=) | |
16 | g.2088298C>A | CA493043831 | TSC2 | c.*3581C>A (n.*3581C>A) c.5079C>A (p.Leu1693=) c.5229C>A (p.Leu1743=) c.*5745C>A (n.*5745C>A) c.*7981C>A (n.*7981C>A) c.5232C>A (p.Leu1744=) c.5163C>A (p.Leu1721=) c.5031C>A (p.Leu1677=) c.5064C>A (p.Leu1688=) c.1455C>A n.3114C>A c.3886C>A c.5091C>A (p.Leu1697=) n.829C>A c.5034C>A (p.Leu1678=) c.5100C>A (p.Leu1700=) c.5025C>A (p.Leu1675=) n.2880C>A c.5157C>A (p.Leu1719=) c.5103C>A (p.Leu1701=) c.5118C>A (p.Leu1706=) c.5028C>A (p.Leu1676=) c.5153C>A n.3316C>A c.5226C>A (p.Leu1742=) n.4047C>A n.2484C>A n.2455C>A n.2345C>A c.4887C>A (p.Leu1629=) c.*4399C>A (n.*4399C>A) c.4923C>A (p.Leu1641=) n.2955C>A c.1414C>A n.2347C>A c.5286C>A (p.Leu1762=) c.5283C>A (p.Leu1761=) c.5175C>A (p.Leu1725=) c.5154C>A (p.Leu1718=) c.4500C>A (p.Leu1500=) c.5448C>A (p.Leu1816=) c.5196C>A (p.Leu1732=) c.3942C>A (p.Leu1314=) | dbSNP |
16 | g.2088298C= | CA2202032531 | TSC2 | c.*3581C= (n.*3581C=) c.5079C= (p.Leu1693=) c.5229C= (p.Leu1743=) c.*5745C= (n.*5745C=) c.*7981C= (n.*7981C=) c.5232C= (p.Leu1744=) c.5163C= (p.Leu1721=) c.5031C= (p.Leu1677=) c.5064C= (p.Leu1688=) c.1455C= n.3114C= c.3886C= c.5091C= (p.Leu1697=) n.829C= c.5034C= (p.Leu1678=) c.5100C= (p.Leu1700=) c.5025C= (p.Leu1675=) n.2880C= c.5157C= (p.Leu1719=) c.5103C= (p.Leu1701=) c.5118C= (p.Leu1706=) c.5028C= (p.Leu1676=) c.5153C= n.3316C= c.5226C= (p.Leu1742=) n.4047C= n.2484C= n.2455C= n.2345C= c.4887C= (p.Leu1629=) c.*4399C= (n.*4399C=) c.4923C= (p.Leu1641=) n.2955C= c.1414C= n.2347C= c.5286C= (p.Leu1762=) c.5283C= (p.Leu1761=) c.5175C= (p.Leu1725=) c.5154C= (p.Leu1718=) c.4500C= (p.Leu1500=) c.5448C= (p.Leu1816=) c.5196C= (p.Leu1732=) c.3942C= (p.Leu1314=) | |
16 | g.2088298C>G | CA493043833 | TSC2 | c.*3581C>G (n.*3581C>G) c.5079C>G (p.Leu1693=) c.5229C>G (p.Leu1743=) c.*5745C>G (n.*5745C>G) c.*7981C>G (n.*7981C>G) c.5232C>G (p.Leu1744=) c.5163C>G (p.Leu1721=) c.5031C>G (p.Leu1677=) c.5064C>G (p.Leu1688=) c.1455C>G n.3114C>G c.3886C>G c.5091C>G (p.Leu1697=) n.829C>G c.5034C>G (p.Leu1678=) c.5100C>G (p.Leu1700=) c.5025C>G (p.Leu1675=) n.2880C>G c.5157C>G (p.Leu1719=) c.5103C>G (p.Leu1701=) c.5118C>G (p.Leu1706=) c.5028C>G (p.Leu1676=) c.5153C>G n.3316C>G c.5226C>G (p.Leu1742=) n.4047C>G n.2484C>G n.2455C>G n.2345C>G c.4887C>G (p.Leu1629=) c.*4399C>G (n.*4399C>G) c.4923C>G (p.Leu1641=) n.2955C>G c.1414C>G n.2347C>G c.5286C>G (p.Leu1762=) c.5283C>G (p.Leu1761=) c.5175C>G (p.Leu1725=) c.5154C>G (p.Leu1718=) c.4500C>G (p.Leu1500=) c.5448C>G (p.Leu1816=) c.5196C>G (p.Leu1732=) c.3942C>G (p.Leu1314=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088298C>T | CA054515 | TSC2 | c.*3581C>T (n.*3581C>T) c.5079C>T (p.Leu1693=) c.5229C>T (p.Leu1743=) c.*5745C>T (n.*5745C>T) c.*7981C>T (n.*7981C>T) c.5232C>T (p.Leu1744=) c.5163C>T (p.Leu1721=) c.5031C>T (p.Leu1677=) c.5064C>T (p.Leu1688=) c.1455C>T n.3114C>T c.3886C>T c.5091C>T (p.Leu1697=) n.829C>T c.5034C>T (p.Leu1678=) c.5100C>T (p.Leu1700=) c.5025C>T (p.Leu1675=) n.2880C>T c.5157C>T (p.Leu1719=) c.5103C>T (p.Leu1701=) c.5118C>T (p.Leu1706=) c.5028C>T (p.Leu1676=) c.5153C>T n.3316C>T c.5226C>T (p.Leu1742=) n.4047C>T n.2484C>T n.2455C>T n.2345C>T c.4887C>T (p.Leu1629=) c.*4399C>T (n.*4399C>T) c.4923C>T (p.Leu1641=) n.2955C>T c.1414C>T n.2347C>T c.5286C>T (p.Leu1762=) c.5283C>T (p.Leu1761=) c.5175C>T (p.Leu1725=) c.5154C>T (p.Leu1718=) c.4500C>T (p.Leu1500=) c.5448C>T (p.Leu1816=) c.5196C>T (p.Leu1732=) c.3942C>T (p.Leu1314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088298_2088303delinsCCGCCA | CA2202032528 | TSC2 | c.*3581_*3586delinsCCGCCA (n.*3581_*3586delinsCCGCCA) c.5079_5084delinsCCGCCA (p.Leu1693=) c.5229_5234delinsCCGCCA (p.Leu1743=) c.*5745_*5750delinsCCGCCA (n.*5745_*5750delinsCCGCCA) c.*7981_*7986delinsCCGCCA (n.*7981_*7986delinsCCGCCA) c.5232_5237delinsCCGCCA (p.Leu1744=) c.5163_5168delinsCCGCCA (p.Leu1721=) c.5031_5036delinsCCGCCA (p.Leu1677=) c.5064_5069delinsCCGCCA (p.Leu1688=) c.1455_1460delinsCCGCCA n.3114_3119delinsCCGCCA c.3886_3891delinsCCGCCA c.5091_5096delinsCCGCCA (p.Leu1697=) n.829_834delinsCCGCCA c.5034_5039delinsCCGCCA (p.Leu1678=) c.5100_5105delinsCCGCCA (p.Leu1700=) c.5025_5030delinsCCGCCA (p.Leu1675=) n.2880_2885delinsCCGCCA c.5157_5162delinsCCGCCA (p.Leu1719=) c.5103_5108delinsCCGCCA (p.Leu1701=) c.5118_5123delinsCCGCCA (p.Leu1706=) c.5028_5033delinsCCGCCA (p.Leu1676=) c.5153_5158delinsCCGCCA n.3316_3321delinsCCGCCA c.5226_5231delinsCCGCCA (p.Leu1742=) n.4047_4052delinsCCGCCA n.2484_2489delinsCCGCCA n.2455_2460delinsCCGCCA n.2345_2350delinsCCGCCA c.4887_4892delinsCCGCCA (p.Leu1629=) c.*4399_*4404delinsCCGCCA (n.*4399_*4404delinsCCGCCA) c.4923_4928delinsCCGCCA (p.Leu1641=) n.2955_2960delinsCCGCCA c.1414_1419delinsCCGCCA n.2347_2352delinsCCGCCA c.5286_5291delinsCCGCCA (p.Leu1762=) c.5283_5288delinsCCGCCA (p.Leu1761=) c.5175_5180delinsCCGCCA (p.Leu1725=) c.5154_5159delinsCCGCCA (p.Leu1718=) c.4500_4505delinsCCGCCA (p.Leu1500=) c.5448_5453delinsCCGCCA (p.Leu1816=) c.5196_5201delinsCCGCCA (p.Leu1732=) c.3942_3947delinsCCGCCA (p.Leu1314=) | |
16 | g.2088298_2088306delinsCCGCCACAT | CA2202032547 | TSC2 | c.*3581_*3589delinsCCGCCACAT (n.*3581_*3589delinsCCGCCACAT) c.5079_5087delinsCCGCCACAT (p.Leu1693=) c.5229_5237delinsCCGCCACAT (p.Leu1743=) c.*5745_*5753delinsCCGCCACAT (n.*5745_*5753delinsCCGCCACAT) c.*7981_*7989delinsCCGCCACAT (n.*7981_*7989delinsCCGCCACAT) c.5232_5240delinsCCGCCACAT (p.Leu1744=) c.5163_5171delinsCCGCCACAT (p.Leu1721=) c.5031_5039delinsCCGCCACAT (p.Leu1677=) c.5064_5072delinsCCGCCACAT (p.Leu1688=) c.1455_1463delinsCCGCCACAT n.3114_3122delinsCCGCCACAT c.3886_3894delinsCCGCCACAT c.5091_5099delinsCCGCCACAT (p.Leu1697=) n.829_837delinsCCGCCACAT c.5034_5042delinsCCGCCACAT (p.Leu1678=) c.5100_5108delinsCCGCCACAT (p.Leu1700=) c.5025_5033delinsCCGCCACAT (p.Leu1675=) n.2880_2888delinsCCGCCACAT c.5157_5165delinsCCGCCACAT (p.Leu1719=) c.5103_5111delinsCCGCCACAT (p.Leu1701=) c.5118_5126delinsCCGCCACAT (p.Leu1706=) c.5028_5036delinsCCGCCACAT (p.Leu1676=) c.5153_5161delinsCCGCCACAT n.3316_3324delinsCCGCCACAT c.5226_5234delinsCCGCCACAT (p.Leu1742=) n.4047_4055delinsCCGCCACAT n.2484_2492delinsCCGCCACAT n.2455_2463delinsCCGCCACAT n.2345_2353delinsCCGCCACAT c.4887_4895delinsCCGCCACAT (p.Leu1629=) c.*4399_*4407delinsCCGCCACAT (n.*4399_*4407delinsCCGCCACAT) c.4923_4931delinsCCGCCACAT (p.Leu1641=) n.2955_2963delinsCCGCCACAT c.1414_1422delinsCCGCCACAT n.2347_2355delinsCCGCCACAT c.5286_5294delinsCCGCCACAT (p.Leu1762=) c.5283_5291delinsCCGCCACAT (p.Leu1761=) c.5175_5183delinsCCGCCACAT (p.Leu1725=) c.5154_5162delinsCCGCCACAT (p.Leu1718=) c.4500_4508delinsCCGCCACAT (p.Leu1500=) c.5448_5456delinsCCGCCACAT (p.Leu1816=) c.5196_5204delinsCCGCCACAT (p.Leu1732=) c.3942_3950delinsCCGCCACAT (p.Leu1314=) | |
16 | g.2088299C>A | CA394314574 | TSC2 | c.*3582C>A (n.*3582C>A) c.5080C>A (p.Arg1694Ser) c.5230C>A (p.Arg1744Ser) c.*5746C>A (n.*5746C>A) c.*7982C>A (n.*7982C>A) c.5233C>A (p.Arg1745Ser) c.5164C>A (p.Arg1722Ser) c.5032C>A (p.Arg1678Ser) c.5065C>A (p.Arg1689Ser) c.1456C>A n.3115C>A c.3887C>A c.5092C>A (p.Arg1698Ser) n.830C>A c.5035C>A (p.Arg1679Ser) c.5101C>A (p.Arg1701Ser) c.5026C>A (p.Arg1676Ser) n.2881C>A c.5158C>A (p.Arg1720Ser) c.5104C>A (p.Arg1702Ser) c.5119C>A (p.Arg1707Ser) c.5029C>A (p.Arg1677Ser) c.5154C>A n.3317C>A c.5227C>A (p.Arg1743Ser) n.4048C>A n.2485C>A n.2456C>A n.2346C>A c.4888C>A (p.Arg1630Ser) c.*4400C>A (n.*4400C>A) c.4924C>A (p.Arg1642Ser) n.2956C>A c.1415C>A n.2348C>A c.5287C>A (p.Arg1763Ser) c.5284C>A (p.Arg1762Ser) c.5176C>A (p.Arg1726Ser) c.5155C>A (p.Arg1719Ser) c.4501C>A (p.Arg1501Ser) c.5449C>A (p.Arg1817Ser) c.5197C>A (p.Arg1733Ser) c.3943C>A (p.Arg1315Ser) | dbSNP gnomAD v4 |
16 | g.2088299C= | CA2202032567 | TSC2 | c.*3582C= (n.*3582C=) c.5080C= (p.Arg1694=) c.5230C= (p.Arg1744=) c.*5746C= (n.*5746C=) c.*7982C= (n.*7982C=) c.5233C= (p.Arg1745=) c.5164C= (p.Arg1722=) c.5032C= (p.Arg1678=) c.5065C= (p.Arg1689=) c.1456C= n.3115C= c.3887C= c.5092C= (p.Arg1698=) n.830C= c.5035C= (p.Arg1679=) c.5101C= (p.Arg1701=) c.5026C= (p.Arg1676=) n.2881C= c.5158C= (p.Arg1720=) c.5104C= (p.Arg1702=) c.5119C= (p.Arg1707=) c.5029C= (p.Arg1677=) c.5154C= n.3317C= c.5227C= (p.Arg1743=) n.4048C= n.2485C= n.2456C= n.2346C= c.4888C= (p.Arg1630=) c.*4400C= (n.*4400C=) c.4924C= (p.Arg1642=) n.2956C= c.1415C= n.2348C= c.5287C= (p.Arg1763=) c.5284C= (p.Arg1762=) c.5176C= (p.Arg1726=) c.5155C= (p.Arg1719=) c.4501C= (p.Arg1501=) c.5449C= (p.Arg1817=) c.5197C= (p.Arg1733=) c.3943C= (p.Arg1315=) | |
16 | g.2088299C>G | CA394314576 | TSC2 | c.*3582C>G (n.*3582C>G) c.5080C>G (p.Arg1694Gly) c.5230C>G (p.Arg1744Gly) c.*5746C>G (n.*5746C>G) c.*7982C>G (n.*7982C>G) c.5233C>G (p.Arg1745Gly) c.5164C>G (p.Arg1722Gly) c.5032C>G (p.Arg1678Gly) c.5065C>G (p.Arg1689Gly) c.1456C>G n.3115C>G c.3887C>G c.5092C>G (p.Arg1698Gly) n.830C>G c.5035C>G (p.Arg1679Gly) c.5101C>G (p.Arg1701Gly) c.5026C>G (p.Arg1676Gly) n.2881C>G c.5158C>G (p.Arg1720Gly) c.5104C>G (p.Arg1702Gly) c.5119C>G (p.Arg1707Gly) c.5029C>G (p.Arg1677Gly) c.5154C>G n.3317C>G c.5227C>G (p.Arg1743Gly) n.4048C>G n.2485C>G n.2456C>G n.2346C>G c.4888C>G (p.Arg1630Gly) c.*4400C>G (n.*4400C>G) c.4924C>G (p.Arg1642Gly) n.2956C>G c.1415C>G n.2348C>G c.5287C>G (p.Arg1763Gly) c.5284C>G (p.Arg1762Gly) c.5176C>G (p.Arg1726Gly) c.5155C>G (p.Arg1719Gly) c.4501C>G (p.Arg1501Gly) c.5449C>G (p.Arg1817Gly) c.5197C>G (p.Arg1733Gly) c.3943C>G (p.Arg1315Gly) | dbSNP |
16 | g.2088299C>T | CA054522 | TSC2 | c.*3582C>T (n.*3582C>T) c.5080C>T (p.Arg1694Cys) c.5230C>T (p.Arg1744Cys) c.*5746C>T (n.*5746C>T) c.*7982C>T (n.*7982C>T) c.5233C>T (p.Arg1745Cys) c.5164C>T (p.Arg1722Cys) c.5032C>T (p.Arg1678Cys) c.5065C>T (p.Arg1689Cys) c.1456C>T n.3115C>T c.3887C>T c.5092C>T (p.Arg1698Cys) n.830C>T c.5035C>T (p.Arg1679Cys) c.5101C>T (p.Arg1701Cys) c.5026C>T (p.Arg1676Cys) n.2881C>T c.5158C>T (p.Arg1720Cys) c.5104C>T (p.Arg1702Cys) c.5119C>T (p.Arg1707Cys) c.5029C>T (p.Arg1677Cys) c.5154C>T n.3317C>T c.5227C>T (p.Arg1743Cys) n.4048C>T n.2485C>T n.2456C>T n.2346C>T c.4888C>T (p.Arg1630Cys) c.*4400C>T (n.*4400C>T) c.4924C>T (p.Arg1642Cys) n.2956C>T c.1415C>T n.2348C>T c.5287C>T (p.Arg1763Cys) c.5284C>T (p.Arg1762Cys) c.5176C>T (p.Arg1726Cys) c.5155C>T (p.Arg1719Cys) c.4501C>T (p.Arg1501Cys) c.5449C>T (p.Arg1817Cys) c.5197C>T (p.Arg1733Cys) c.3943C>T (p.Arg1315Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088299_2088303delinsCGCCA | CA2202032563 | TSC2 | c.*3582_*3586delinsCGCCA (n.*3582_*3586delinsCGCCA) c.5080_5084delinsCGCCA (p.Arg1694=) c.5230_5234delinsCGCCA (p.Arg1744=) c.*5746_*5750delinsCGCCA (n.*5746_*5750delinsCGCCA) c.*7982_*7986delinsCGCCA (n.*7982_*7986delinsCGCCA) c.5233_5237delinsCGCCA (p.Arg1745=) c.5164_5168delinsCGCCA (p.Arg1722=) c.5032_5036delinsCGCCA (p.Arg1678=) c.5065_5069delinsCGCCA (p.Arg1689=) c.1456_1460delinsCGCCA n.3115_3119delinsCGCCA c.3887_3891delinsCGCCA c.5092_5096delinsCGCCA (p.Arg1698=) n.830_834delinsCGCCA c.5035_5039delinsCGCCA (p.Arg1679=) c.5101_5105delinsCGCCA (p.Arg1701=) c.5026_5030delinsCGCCA (p.Arg1676=) n.2881_2885delinsCGCCA c.5158_5162delinsCGCCA (p.Arg1720=) c.5104_5108delinsCGCCA (p.Arg1702=) c.5119_5123delinsCGCCA (p.Arg1707=) c.5029_5033delinsCGCCA (p.Arg1677=) c.5154_5158delinsCGCCA n.3317_3321delinsCGCCA c.5227_5231delinsCGCCA (p.Arg1743=) n.4048_4052delinsCGCCA n.2485_2489delinsCGCCA n.2456_2460delinsCGCCA n.2346_2350delinsCGCCA c.4888_4892delinsCGCCA (p.Arg1630=) c.*4400_*4404delinsCGCCA (n.*4400_*4404delinsCGCCA) c.4924_4928delinsCGCCA (p.Arg1642=) n.2956_2960delinsCGCCA c.1415_1419delinsCGCCA n.2348_2352delinsCGCCA c.5287_5291delinsCGCCA (p.Arg1763=) c.5284_5288delinsCGCCA (p.Arg1762=) c.5176_5180delinsCGCCA (p.Arg1726=) c.5155_5159delinsCGCCA (p.Arg1719=) c.4501_4505delinsCGCCA (p.Arg1501=) c.5449_5453delinsCGCCA (p.Arg1817=) c.5197_5201delinsCGCCA (p.Arg1733=) c.3943_3947delinsCGCCA (p.Arg1315=) | |
16 | g.2088300_2088304del | CA022250 | TSC2 | c.*3583_*3587del (n.*3583_*3587del) c.5081_5085del (p.Arg1694HisfsTer28) c.5231_5235del (p.Arg1744HisfsTer28) c.*5747_*5751del (n.*5747_*5751del) c.*7983_*7987del (n.*7983_*7987del) c.5234_5238del (p.Arg1745HisfsTer28) c.5165_5169del (p.Arg1722HisfsTer28) c.5033_5037del (p.Arg1678HisfsTer28) c.5066_5070del (p.Arg1689HisfsTer28) c.1457_1461del n.3116_3120del c.3888_3892del c.5093_5097del (p.Arg1698HisfsTer28) n.831_835del c.5036_5040del (p.Arg1679HisfsTer28) c.5102_5106del (p.Arg1701HisfsTer28) c.5027_5031del (p.Arg1676HisfsTer28) n.2882_2886del c.5159_5163del (p.Arg1720HisfsTer28) c.5105_5109del (p.Arg1702HisfsTer28) c.5120_5124del (p.Arg1707HisfsTer28) c.5030_5034del (p.Arg1677HisfsTer28) c.5155_5159del n.3318_3322del c.5228_5232del (p.Arg1743HisfsTer28) n.4049_4053del n.2486_2490del n.2457_2461del n.2347_2351del c.4889_4893del (p.Arg1630HisfsTer28) c.*4401_*4405del (n.*4401_*4405del) c.4925_4929del (p.Arg1642HisfsTer28) n.2957_2961del c.1416_1420del n.2349_2353del c.5288_5292del (p.Arg1763HisfsTer28) c.5285_5289del (p.Arg1762HisfsTer28) c.5177_5181del (p.Arg1726HisfsTer28) c.5156_5160del (p.Arg1719HisfsTer28) c.4502_4506del (p.Arg1501HisfsTer28) c.5450_5454del (p.Arg1817HisfsTer28) c.5198_5202del (p.Arg1733HisfsTer28) c.3944_3948del (p.Arg1315HisfsTer28) | ClinVar dbSNP |
16 | g.2088300_2088307del | CA916081800 | TSC2 | c.*3583_*3590del (n.*3583_*3590del) c.5081_5088del (p.Arg1694GlnfsTer27) c.5231_5238del (p.Arg1744GlnfsTer27) c.*5747_*5754del (n.*5747_*5754del) c.*7983_*7990del (n.*7983_*7990del) c.5234_5241del (p.Arg1745GlnfsTer27) c.5165_5172del (p.Arg1722GlnfsTer27) c.5033_5040del (p.Arg1678GlnfsTer27) c.5066_5073del (p.Arg1689GlnfsTer27) c.1457_1464del n.3116_3123del c.3888_3895del c.5093_5100del (p.Arg1698GlnfsTer27) n.831_838del c.5036_5043del (p.Arg1679GlnfsTer27) c.5102_5109del (p.Arg1701GlnfsTer27) c.5027_5034del (p.Arg1676GlnfsTer27) n.2882_2889del c.5159_5166del (p.Arg1720GlnfsTer27) c.5105_5112del (p.Arg1702GlnfsTer27) c.5120_5127del (p.Arg1707GlnfsTer27) c.5030_5037del (p.Arg1677GlnfsTer27) c.5155_5162del n.3318_3325del c.5228_5235del (p.Arg1743GlnfsTer27) n.4049_4056del n.2486_2493del n.2457_2464del n.2347_2354del c.4889_4896del (p.Arg1630GlnfsTer27) c.*4401_*4408del (n.*4401_*4408del) c.4925_4932del (p.Arg1642GlnfsTer27) n.2957_2964del c.1416_1423del n.2349_2356del c.5288_5295del (p.Arg1763GlnfsTer27) c.5285_5292del (p.Arg1762GlnfsTer27) c.5177_5184del (p.Arg1726GlnfsTer27) c.5156_5163del (p.Arg1719GlnfsTer27) c.4502_4509del (p.Arg1501GlnfsTer27) c.5450_5457del (p.Arg1817GlnfsTer27) c.5198_5205del (p.Arg1733GlnfsTer27) c.3944_3951del (p.Arg1315GlnfsTer27) | ClinVar dbSNP |
16 | g.2088300G>A | CA054529 | TSC2 | c.*3583G>A (n.*3583G>A) c.5081G>A (p.Arg1694His) c.5231G>A (p.Arg1744His) c.*5747G>A (n.*5747G>A) c.*7983G>A (n.*7983G>A) c.5234G>A (p.Arg1745His) c.5165G>A (p.Arg1722His) c.5033G>A (p.Arg1678His) c.5066G>A (p.Arg1689His) c.1457G>A n.3116G>A c.3888G>A c.5093G>A (p.Arg1698His) n.831G>A c.5036G>A (p.Arg1679His) c.5102G>A (p.Arg1701His) c.5027G>A (p.Arg1676His) n.2882G>A c.5159G>A (p.Arg1720His) c.5105G>A (p.Arg1702His) c.5120G>A (p.Arg1707His) c.5030G>A (p.Arg1677His) c.5155G>A n.3318G>A c.5228G>A (p.Arg1743His) n.4049G>A n.2486G>A n.2457G>A n.2347G>A c.4889G>A (p.Arg1630His) c.*4401G>A (n.*4401G>A) c.4925G>A (p.Arg1642His) n.2957G>A c.1416G>A n.2349G>A c.5288G>A (p.Arg1763His) c.5285G>A (p.Arg1762His) c.5177G>A (p.Arg1726His) c.5156G>A (p.Arg1719His) c.4502G>A (p.Arg1501His) c.5450G>A (p.Arg1817His) c.5198G>A (p.Arg1733His) c.3944G>A (p.Arg1315His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088300G>C | CA394314587 | TSC2 | c.*3583G>C (n.*3583G>C) c.5081G>C (p.Arg1694Pro) c.5231G>C (p.Arg1744Pro) c.*5747G>C (n.*5747G>C) c.*7983G>C (n.*7983G>C) c.5234G>C (p.Arg1745Pro) c.5165G>C (p.Arg1722Pro) c.5033G>C (p.Arg1678Pro) c.5066G>C (p.Arg1689Pro) c.1457G>C n.3116G>C c.3888G>C c.5093G>C (p.Arg1698Pro) n.831G>C c.5036G>C (p.Arg1679Pro) c.5102G>C (p.Arg1701Pro) c.5027G>C (p.Arg1676Pro) n.2882G>C c.5159G>C (p.Arg1720Pro) c.5105G>C (p.Arg1702Pro) c.5120G>C (p.Arg1707Pro) c.5030G>C (p.Arg1677Pro) c.5155G>C n.3318G>C c.5228G>C (p.Arg1743Pro) n.4049G>C n.2486G>C n.2457G>C n.2347G>C c.4889G>C (p.Arg1630Pro) c.*4401G>C (n.*4401G>C) c.4925G>C (p.Arg1642Pro) n.2957G>C c.1416G>C n.2349G>C c.5288G>C (p.Arg1763Pro) c.5285G>C (p.Arg1762Pro) c.5177G>C (p.Arg1726Pro) c.5156G>C (p.Arg1719Pro) c.4502G>C (p.Arg1501Pro) c.5450G>C (p.Arg1817Pro) c.5198G>C (p.Arg1733Pro) c.3944G>C (p.Arg1315Pro) | |
16 | g.2088300G= | CA2202032586 | TSC2 | c.*3583G= (n.*3583G=) c.5081G= (p.Arg1694=) c.5231G= (p.Arg1744=) c.*5747G= (n.*5747G=) c.*7983G= (n.*7983G=) c.5234G= (p.Arg1745=) c.5165G= (p.Arg1722=) c.5033G= (p.Arg1678=) c.5066G= (p.Arg1689=) c.1457G= n.3116G= c.3888G= c.5093G= (p.Arg1698=) n.831G= c.5036G= (p.Arg1679=) c.5102G= (p.Arg1701=) c.5027G= (p.Arg1676=) n.2882G= c.5159G= (p.Arg1720=) c.5105G= (p.Arg1702=) c.5120G= (p.Arg1707=) c.5030G= (p.Arg1677=) c.5155G= n.3318G= c.5228G= (p.Arg1743=) n.4049G= n.2486G= n.2457G= n.2347G= c.4889G= (p.Arg1630=) c.*4401G= (n.*4401G=) c.4925G= (p.Arg1642=) n.2957G= c.1416G= n.2349G= c.5288G= (p.Arg1763=) c.5285G= (p.Arg1762=) c.5177G= (p.Arg1726=) c.5156G= (p.Arg1719=) c.4502G= (p.Arg1501=) c.5450G= (p.Arg1817=) c.5198G= (p.Arg1733=) c.3944G= (p.Arg1315=) | |
16 | g.2088300G>T | CA394314591 | TSC2 | c.*3583G>T (n.*3583G>T) c.5081G>T (p.Arg1694Leu) c.5231G>T (p.Arg1744Leu) c.*5747G>T (n.*5747G>T) c.*7983G>T (n.*7983G>T) c.5234G>T (p.Arg1745Leu) c.5165G>T (p.Arg1722Leu) c.5033G>T (p.Arg1678Leu) c.5066G>T (p.Arg1689Leu) c.1457G>T n.3116G>T c.3888G>T c.5093G>T (p.Arg1698Leu) n.831G>T c.5036G>T (p.Arg1679Leu) c.5102G>T (p.Arg1701Leu) c.5027G>T (p.Arg1676Leu) n.2882G>T c.5159G>T (p.Arg1720Leu) c.5105G>T (p.Arg1702Leu) c.5120G>T (p.Arg1707Leu) c.5030G>T (p.Arg1677Leu) c.5155G>T n.3318G>T c.5228G>T (p.Arg1743Leu) n.4049G>T n.2486G>T n.2457G>T n.2347G>T c.4889G>T (p.Arg1630Leu) c.*4401G>T (n.*4401G>T) c.4925G>T (p.Arg1642Leu) n.2957G>T c.1416G>T n.2349G>T c.5288G>T (p.Arg1763Leu) c.5285G>T (p.Arg1762Leu) c.5177G>T (p.Arg1726Leu) c.5156G>T (p.Arg1719Leu) c.4502G>T (p.Arg1501Leu) c.5450G>T (p.Arg1817Leu) c.5198G>T (p.Arg1733Leu) c.3944G>T (p.Arg1315Leu) | ClinVar dbSNP |
16 | g.2088300_2088303del | CA022261 | TSC2 | c.*3583_*3586del (n.*3583_*3586del) c.5081_5084del (p.Arg1694ProfsTer?) c.5231_5234del (p.Arg1744ProfsTer?) c.*5747_*5750del (n.*5747_*5750del) c.*7983_*7986del (n.*7983_*7986del) c.5234_5237del (p.Arg1745ProfsTer?) c.5165_5168del (p.Arg1722ProfsTer?) c.5033_5036del (p.Arg1678ProfsTer?) c.5066_5069del (p.Arg1689ProfsTer?) c.1457_1460del n.3116_3119del c.3888_3891del c.5093_5096del (p.Arg1698ProfsTer?) n.831_834del c.5036_5039del (p.Arg1679ProfsTer?) c.5102_5105del (p.Arg1701ProfsTer?) c.5027_5030del (p.Arg1676ProfsTer?) n.2882_2885del c.5159_5162del (p.Arg1720ProfsTer?) c.5105_5108del (p.Arg1702ProfsTer?) c.5120_5123del (p.Arg1707ProfsTer?) c.5030_5033del (p.Arg1677ProfsTer?) c.5155_5158del n.3318_3321del c.5228_5231del (p.Arg1743ProfsTer?) n.4049_4052del n.2486_2489del n.2457_2460del n.2347_2350del c.4889_4892del (p.Arg1630ProfsTer?) c.*4401_*4404del (n.*4401_*4404del) c.4925_4928del (p.Arg1642ProfsTer?) n.2957_2960del c.1416_1419del n.2349_2352del c.5288_5291del (p.Arg1763ProfsTer?) c.5285_5288del (p.Arg1762ProfsTer?) c.5177_5180del (p.Arg1726ProfsTer?) c.5156_5159del (p.Arg1719ProfsTer?) c.4502_4505del (p.Arg1501ProfsTer?) c.5450_5453del (p.Arg1817ProfsTer?) c.5198_5201del (p.Arg1733ProfsTer?) c.3944_3947del (p.Arg1315ProfsTer?) | ClinVar dbSNP |
16 | g.2088301C>A | CA493043838 | TSC2 | c.*3584C>A (n.*3584C>A) c.5082C>A (p.Arg1694=) c.5232C>A (p.Arg1744=) c.*5748C>A (n.*5748C>A) c.*7984C>A (n.*7984C>A) c.5235C>A (p.Arg1745=) c.5166C>A (p.Arg1722=) c.5034C>A (p.Arg1678=) c.5067C>A (p.Arg1689=) c.1458C>A n.3117C>A c.3889C>A c.5094C>A (p.Arg1698=) n.832C>A c.5037C>A (p.Arg1679=) c.5103C>A (p.Arg1701=) c.5028C>A (p.Arg1676=) n.2883C>A c.5160C>A (p.Arg1720=) c.5106C>A (p.Arg1702=) c.5121C>A (p.Arg1707=) c.5031C>A (p.Arg1677=) c.5156C>A n.3319C>A c.5229C>A (p.Arg1743=) n.4050C>A n.2487C>A n.2458C>A n.2348C>A c.4890C>A (p.Arg1630=) c.*4402C>A (n.*4402C>A) c.4926C>A (p.Arg1642=) n.2958C>A c.1417C>A n.2350C>A c.5289C>A (p.Arg1763=) c.5286C>A (p.Arg1762=) c.5178C>A (p.Arg1726=) c.5157C>A (p.Arg1719=) c.4503C>A (p.Arg1501=) c.5451C>A (p.Arg1817=) c.5199C>A (p.Arg1733=) c.3945C>A (p.Arg1315=) | dbSNP |
16 | g.2088301C>G | CA493043839 | TSC2 | c.*3584C>G (n.*3584C>G) c.5082C>G (p.Arg1694=) c.5232C>G (p.Arg1744=) c.*5748C>G (n.*5748C>G) c.*7984C>G (n.*7984C>G) c.5235C>G (p.Arg1745=) c.5166C>G (p.Arg1722=) c.5034C>G (p.Arg1678=) c.5067C>G (p.Arg1689=) c.1458C>G n.3117C>G c.3889C>G c.5094C>G (p.Arg1698=) n.832C>G c.5037C>G (p.Arg1679=) c.5103C>G (p.Arg1701=) c.5028C>G (p.Arg1676=) n.2883C>G c.5160C>G (p.Arg1720=) c.5106C>G (p.Arg1702=) c.5121C>G (p.Arg1707=) c.5031C>G (p.Arg1677=) c.5156C>G n.3319C>G c.5229C>G (p.Arg1743=) n.4050C>G n.2487C>G n.2458C>G n.2348C>G c.4890C>G (p.Arg1630=) c.*4402C>G (n.*4402C>G) c.4926C>G (p.Arg1642=) n.2958C>G c.1417C>G n.2350C>G c.5289C>G (p.Arg1763=) c.5286C>G (p.Arg1762=) c.5178C>G (p.Arg1726=) c.5157C>G (p.Arg1719=) c.4503C>G (p.Arg1501=) c.5451C>G (p.Arg1817=) c.5199C>G (p.Arg1733=) c.3945C>G (p.Arg1315=) | dbSNP |
16 | g.2088301C>T | CA493043840 | TSC2 | c.*3584C>T (n.*3584C>T) c.5082C>T (p.Arg1694=) c.5232C>T (p.Arg1744=) c.*5748C>T (n.*5748C>T) c.*7984C>T (n.*7984C>T) c.5235C>T (p.Arg1745=) c.5166C>T (p.Arg1722=) c.5034C>T (p.Arg1678=) c.5067C>T (p.Arg1689=) c.1458C>T n.3117C>T c.3889C>T c.5094C>T (p.Arg1698=) n.832C>T c.5037C>T (p.Arg1679=) c.5103C>T (p.Arg1701=) c.5028C>T (p.Arg1676=) n.2883C>T c.5160C>T (p.Arg1720=) c.5106C>T (p.Arg1702=) c.5121C>T (p.Arg1707=) c.5031C>T (p.Arg1677=) c.5156C>T n.3319C>T c.5229C>T (p.Arg1743=) n.4050C>T n.2487C>T n.2458C>T n.2348C>T c.4890C>T (p.Arg1630=) c.*4402C>T (n.*4402C>T) c.4926C>T (p.Arg1642=) n.2958C>T c.1417C>T n.2350C>T c.5289C>T (p.Arg1763=) c.5286C>T (p.Arg1762=) c.5178C>T (p.Arg1726=) c.5157C>T (p.Arg1719=) c.4503C>T (p.Arg1501=) c.5451C>T (p.Arg1817=) c.5199C>T (p.Arg1733=) c.3945C>T (p.Arg1315=) | dbSNP gnomAD v4 |
16 | g.2088302C>A | CA394314599 | TSC2 | c.*3585C>A (n.*3585C>A) c.5083C>A (p.His1695Asn) c.5233C>A (p.His1745Asn) c.*5749C>A (n.*5749C>A) c.*7985C>A (n.*7985C>A) c.5236C>A (p.His1746Asn) c.5167C>A (p.His1723Asn) c.5035C>A (p.His1679Asn) c.5068C>A (p.His1690Asn) c.1459C>A n.3118C>A c.3890C>A c.5095C>A (p.His1699Asn) n.833C>A c.5038C>A (p.His1680Asn) c.5104C>A (p.His1702Asn) c.5029C>A (p.His1677Asn) n.2884C>A c.5161C>A (p.His1721Asn) c.5107C>A (p.His1703Asn) c.5122C>A (p.His1708Asn) c.5032C>A (p.His1678Asn) c.5157C>A n.3320C>A c.5230C>A (p.His1744Asn) n.4051C>A n.2488C>A n.2459C>A n.2349C>A c.4891C>A (p.His1631Asn) c.*4403C>A (n.*4403C>A) c.4927C>A (p.His1643Asn) n.2959C>A c.1418C>A n.2351C>A c.5290C>A (p.His1764Asn) c.5287C>A (p.His1763Asn) c.5179C>A (p.His1727Asn) c.5158C>A (p.His1720Asn) c.4504C>A (p.His1502Asn) c.5452C>A (p.His1818Asn) c.5200C>A (p.His1734Asn) c.3946C>A (p.His1316Asn) | dbSNP gnomAD v4 |
16 | g.2088302C>G | CA394314602 | TSC2 | c.*3585C>G (n.*3585C>G) c.5083C>G (p.His1695Asp) c.5233C>G (p.His1745Asp) c.*5749C>G (n.*5749C>G) c.*7985C>G (n.*7985C>G) c.5236C>G (p.His1746Asp) c.5167C>G (p.His1723Asp) c.5035C>G (p.His1679Asp) c.5068C>G (p.His1690Asp) c.1459C>G n.3118C>G c.3890C>G c.5095C>G (p.His1699Asp) n.833C>G c.5038C>G (p.His1680Asp) c.5104C>G (p.His1702Asp) c.5029C>G (p.His1677Asp) n.2884C>G c.5161C>G (p.His1721Asp) c.5107C>G (p.His1703Asp) c.5122C>G (p.His1708Asp) c.5032C>G (p.His1678Asp) c.5157C>G n.3320C>G c.5230C>G (p.His1744Asp) n.4051C>G n.2488C>G n.2459C>G n.2349C>G c.4891C>G (p.His1631Asp) c.*4403C>G (n.*4403C>G) c.4927C>G (p.His1643Asp) n.2959C>G c.1418C>G n.2351C>G c.5290C>G (p.His1764Asp) c.5287C>G (p.His1763Asp) c.5179C>G (p.His1727Asp) c.5158C>G (p.His1720Asp) c.4504C>G (p.His1502Asp) c.5452C>G (p.His1818Asp) c.5200C>G (p.His1734Asp) c.3946C>G (p.His1316Asp) | dbSNP |
16 | g.2088302C>T | CA394314606 | TSC2 | c.*3585C>T (n.*3585C>T) c.5083C>T (p.His1695Tyr) c.5233C>T (p.His1745Tyr) c.*5749C>T (n.*5749C>T) c.*7985C>T (n.*7985C>T) c.5236C>T (p.His1746Tyr) c.5167C>T (p.His1723Tyr) c.5035C>T (p.His1679Tyr) c.5068C>T (p.His1690Tyr) c.1459C>T n.3118C>T c.3890C>T c.5095C>T (p.His1699Tyr) n.833C>T c.5038C>T (p.His1680Tyr) c.5104C>T (p.His1702Tyr) c.5029C>T (p.His1677Tyr) n.2884C>T c.5161C>T (p.His1721Tyr) c.5107C>T (p.His1703Tyr) c.5122C>T (p.His1708Tyr) c.5032C>T (p.His1678Tyr) c.5157C>T n.3320C>T c.5230C>T (p.His1744Tyr) n.4051C>T n.2488C>T n.2459C>T n.2349C>T c.4891C>T (p.His1631Tyr) c.*4403C>T (n.*4403C>T) c.4927C>T (p.His1643Tyr) n.2959C>T c.1418C>T n.2351C>T c.5290C>T (p.His1764Tyr) c.5287C>T (p.His1763Tyr) c.5179C>T (p.His1727Tyr) c.5158C>T (p.His1720Tyr) c.4504C>T (p.His1502Tyr) c.5452C>T (p.His1818Tyr) c.5200C>T (p.His1734Tyr) c.3946C>T (p.His1316Tyr) | ClinVar gnomAD v4 |
16 | g.2088303A= | CA2202032591 | TSC2 | c.*3586A= (n.*3586A=) c.5084A= (p.His1695=) c.5234A= (p.His1745=) c.*5750A= (n.*5750A=) c.*7986A= (n.*7986A=) c.5237A= (p.His1746=) c.5168A= (p.His1723=) c.5036A= (p.His1679=) c.5069A= (p.His1690=) c.1460A= n.3119A= c.3891A= c.5096A= (p.His1699=) n.834A= c.5039A= (p.His1680=) c.5105A= (p.His1702=) c.5030A= (p.His1677=) n.2885A= c.5162A= (p.His1721=) c.5108A= (p.His1703=) c.5123A= (p.His1708=) c.5033A= (p.His1678=) c.5158A= n.3321A= c.5231A= (p.His1744=) n.4052A= n.2489A= n.2460A= n.2350A= c.4892A= (p.His1631=) c.*4404A= (n.*4404A=) c.4928A= (p.His1643=) n.2960A= c.1419A= n.2352A= c.5291A= (p.His1764=) c.5288A= (p.His1763=) c.5180A= (p.His1727=) c.5159A= (p.His1720=) c.4505A= (p.His1502=) c.5453A= (p.His1818=) c.5201A= (p.His1734=) c.3947A= (p.His1316=) | |
16 | g.2088303A>C | CA394314610 | TSC2 | c.*3586A>C (n.*3586A>C) c.5084A>C (p.His1695Pro) c.5234A>C (p.His1745Pro) c.*5750A>C (n.*5750A>C) c.*7986A>C (n.*7986A>C) c.5237A>C (p.His1746Pro) c.5168A>C (p.His1723Pro) c.5036A>C (p.His1679Pro) c.5069A>C (p.His1690Pro) c.1460A>C n.3119A>C c.3891A>C c.5096A>C (p.His1699Pro) n.834A>C c.5039A>C (p.His1680Pro) c.5105A>C (p.His1702Pro) c.5030A>C (p.His1677Pro) n.2885A>C c.5162A>C (p.His1721Pro) c.5108A>C (p.His1703Pro) c.5123A>C (p.His1708Pro) c.5033A>C (p.His1678Pro) c.5158A>C n.3321A>C c.5231A>C (p.His1744Pro) n.4052A>C n.2489A>C n.2460A>C n.2350A>C c.4892A>C (p.His1631Pro) c.*4404A>C (n.*4404A>C) c.4928A>C (p.His1643Pro) n.2960A>C c.1419A>C n.2352A>C c.5291A>C (p.His1764Pro) c.5288A>C (p.His1763Pro) c.5180A>C (p.His1727Pro) c.5159A>C (p.His1720Pro) c.4505A>C (p.His1502Pro) c.5453A>C (p.His1818Pro) c.5201A>C (p.His1734Pro) c.3947A>C (p.His1316Pro) | ClinVar dbSNP |
16 | g.2088303A>G | CA394314615 | TSC2 | c.*3586A>G (n.*3586A>G) c.5084A>G (p.His1695Arg) c.5234A>G (p.His1745Arg) c.*5750A>G (n.*5750A>G) c.*7986A>G (n.*7986A>G) c.5237A>G (p.His1746Arg) c.5168A>G (p.His1723Arg) c.5036A>G (p.His1679Arg) c.5069A>G (p.His1690Arg) c.1460A>G n.3119A>G c.3891A>G c.5096A>G (p.His1699Arg) n.834A>G c.5039A>G (p.His1680Arg) c.5105A>G (p.His1702Arg) c.5030A>G (p.His1677Arg) n.2885A>G c.5162A>G (p.His1721Arg) c.5108A>G (p.His1703Arg) c.5123A>G (p.His1708Arg) c.5033A>G (p.His1678Arg) c.5158A>G n.3321A>G c.5231A>G (p.His1744Arg) n.4052A>G n.2489A>G n.2460A>G n.2350A>G c.4892A>G (p.His1631Arg) c.*4404A>G (n.*4404A>G) c.4928A>G (p.His1643Arg) n.2960A>G c.1419A>G n.2352A>G c.5291A>G (p.His1764Arg) c.5288A>G (p.His1763Arg) c.5180A>G (p.His1727Arg) c.5159A>G (p.His1720Arg) c.4505A>G (p.His1502Arg) c.5453A>G (p.His1818Arg) c.5201A>G (p.His1734Arg) c.3947A>G (p.His1316Arg) | ClinVar dbSNP |
16 | g.2088303A>T | CA394314612 | TSC2 | c.*3586A>T (n.*3586A>T) c.5084A>T (p.His1695Leu) c.5234A>T (p.His1745Leu) c.*5750A>T (n.*5750A>T) c.*7986A>T (n.*7986A>T) c.5237A>T (p.His1746Leu) c.5168A>T (p.His1723Leu) c.5036A>T (p.His1679Leu) c.5069A>T (p.His1690Leu) c.1460A>T n.3119A>T c.3891A>T c.5096A>T (p.His1699Leu) n.834A>T c.5039A>T (p.His1680Leu) c.5105A>T (p.His1702Leu) c.5030A>T (p.His1677Leu) n.2885A>T c.5162A>T (p.His1721Leu) c.5108A>T (p.His1703Leu) c.5123A>T (p.His1708Leu) c.5033A>T (p.His1678Leu) c.5158A>T n.3321A>T c.5231A>T (p.His1744Leu) n.4052A>T n.2489A>T n.2460A>T n.2350A>T c.4892A>T (p.His1631Leu) c.*4404A>T (n.*4404A>T) c.4928A>T (p.His1643Leu) n.2960A>T c.1419A>T n.2352A>T c.5291A>T (p.His1764Leu) c.5288A>T (p.His1763Leu) c.5180A>T (p.His1727Leu) c.5159A>T (p.His1720Leu) c.4505A>T (p.His1502Leu) c.5453A>T (p.His1818Leu) c.5201A>T (p.His1734Leu) c.3947A>T (p.His1316Leu) | dbSNP |
16 | g.2088303_2088315dup | CA2631118696 | TSC2 | c.*3586_*3598dup (n.*3586_*3598dup) c.5084_5096dup (p.Arg1700HisfsTer28) c.5234_5246dup (p.Arg1750HisfsTer28) c.*5750_*5762dup (n.*5750_*5762dup) c.*7986_*7998dup (n.*7986_*7998dup) c.5237_5249dup (p.Arg1751HisfsTer28) c.5168_5180dup (p.Arg1728HisfsTer28) c.5036_5048dup (p.Arg1684HisfsTer28) c.5069_5081dup (p.Arg1695HisfsTer28) c.1460_1472dup n.3119_3131dup c.3891_3903dup c.5096_5108dup (p.Arg1704HisfsTer28) n.834_846dup c.5039_5051dup (p.Arg1685HisfsTer28) c.5105_5117dup (p.Arg1707HisfsTer28) c.5030_5042dup (p.Arg1682HisfsTer28) n.2885_2897dup c.5162_5174dup (p.Arg1726HisfsTer28) c.5108_5120dup (p.Arg1708HisfsTer28) c.5123_5135dup (p.Arg1713HisfsTer28) c.5033_5045dup (p.Arg1683HisfsTer28) c.5158_5170dup n.3321_3333dup c.5231_5243dup (p.Arg1749HisfsTer28) n.4052_4064dup n.2489_2501dup n.2460_2472dup n.2350_2362dup c.4892_4904dup (p.Arg1636HisfsTer28) c.*4404_*4416dup (n.*4404_*4416dup) c.4928_4940dup (p.Arg1648HisfsTer28) n.2960_2972dup c.1419_1431dup n.2352_2364dup c.5291_5303dup (p.Arg1769HisfsTer28) c.5288_5300dup (p.Arg1768HisfsTer28) c.5180_5192dup (p.Arg1732HisfsTer28) c.5159_5171dup (p.Arg1725HisfsTer28) c.4505_4517dup (p.Arg1507HisfsTer28) c.5453_5465dup (p.Arg1823HisfsTer28) c.5201_5213dup (p.Arg1739HisfsTer28) c.3947_3959dup (p.Arg1321HisfsTer28) | gnomAD v4 |
16 | g.2088304C>A | CA394314618 | TSC2 | c.*3587C>A (n.*3587C>A) c.5085C>A (p.His1695Gln) c.5235C>A (p.His1745Gln) c.*5751C>A (n.*5751C>A) c.*7987C>A (n.*7987C>A) c.5238C>A (p.His1746Gln) c.5169C>A (p.His1723Gln) c.5037C>A (p.His1679Gln) c.5070C>A (p.His1690Gln) c.1461C>A n.3120C>A c.3892C>A c.5097C>A (p.His1699Gln) n.835C>A c.5040C>A (p.His1680Gln) c.5106C>A (p.His1702Gln) c.5031C>A (p.His1677Gln) n.2886C>A c.5163C>A (p.His1721Gln) c.5109C>A (p.His1703Gln) c.5124C>A (p.His1708Gln) c.5034C>A (p.His1678Gln) c.5159C>A n.3322C>A c.5232C>A (p.His1744Gln) n.4053C>A n.2490C>A n.2461C>A n.2351C>A c.4893C>A (p.His1631Gln) c.*4405C>A (n.*4405C>A) c.4929C>A (p.His1643Gln) n.2961C>A c.1420C>A n.2353C>A c.5292C>A (p.His1764Gln) c.5289C>A (p.His1763Gln) c.5181C>A (p.His1727Gln) c.5160C>A (p.His1720Gln) c.4506C>A (p.His1502Gln) c.5454C>A (p.His1818Gln) c.5202C>A (p.His1734Gln) c.3948C>A (p.His1316Gln) | ClinVar dbSNP |
16 | g.2088304C= | CA2202032599 | TSC2 | c.*3587C= (n.*3587C=) c.5085C= (p.His1695=) c.5235C= (p.His1745=) c.*5751C= (n.*5751C=) c.*7987C= (n.*7987C=) c.5238C= (p.His1746=) c.5169C= (p.His1723=) c.5037C= (p.His1679=) c.5070C= (p.His1690=) c.1461C= n.3120C= c.3892C= c.5097C= (p.His1699=) n.835C= c.5040C= (p.His1680=) c.5106C= (p.His1702=) c.5031C= (p.His1677=) n.2886C= c.5163C= (p.His1721=) c.5109C= (p.His1703=) c.5124C= (p.His1708=) c.5034C= (p.His1678=) c.5159C= n.3322C= c.5232C= (p.His1744=) n.4053C= n.2490C= n.2461C= n.2351C= c.4893C= (p.His1631=) c.*4405C= (n.*4405C=) c.4929C= (p.His1643=) n.2961C= c.1420C= n.2353C= c.5292C= (p.His1764=) c.5289C= (p.His1763=) c.5181C= (p.His1727=) c.5160C= (p.His1720=) c.4506C= (p.His1502=) c.5454C= (p.His1818=) c.5202C= (p.His1734=) c.3948C= (p.His1316=) | |
16 | g.2088304C>G | CA394314622 | TSC2 | c.*3587C>G (n.*3587C>G) c.5085C>G (p.His1695Gln) c.5235C>G (p.His1745Gln) c.*5751C>G (n.*5751C>G) c.*7987C>G (n.*7987C>G) c.5238C>G (p.His1746Gln) c.5169C>G (p.His1723Gln) c.5037C>G (p.His1679Gln) c.5070C>G (p.His1690Gln) c.1461C>G n.3120C>G c.3892C>G c.5097C>G (p.His1699Gln) n.835C>G c.5040C>G (p.His1680Gln) c.5106C>G (p.His1702Gln) c.5031C>G (p.His1677Gln) n.2886C>G c.5163C>G (p.His1721Gln) c.5109C>G (p.His1703Gln) c.5124C>G (p.His1708Gln) c.5034C>G (p.His1678Gln) c.5159C>G n.3322C>G c.5232C>G (p.His1744Gln) n.4053C>G n.2490C>G n.2461C>G n.2351C>G c.4893C>G (p.His1631Gln) c.*4405C>G (n.*4405C>G) c.4929C>G (p.His1643Gln) n.2961C>G c.1420C>G n.2353C>G c.5292C>G (p.His1764Gln) c.5289C>G (p.His1763Gln) c.5181C>G (p.His1727Gln) c.5160C>G (p.His1720Gln) c.4506C>G (p.His1502Gln) c.5454C>G (p.His1818Gln) c.5202C>G (p.His1734Gln) c.3948C>G (p.His1316Gln) | |
16 | g.2088304C>T | CA16615045 | TSC2 | c.*3587C>T (n.*3587C>T) c.5085C>T (p.His1695=) c.5235C>T (p.His1745=) c.*5751C>T (n.*5751C>T) c.*7987C>T (n.*7987C>T) c.5238C>T (p.His1746=) c.5169C>T (p.His1723=) c.5037C>T (p.His1679=) c.5070C>T (p.His1690=) c.1461C>T n.3120C>T c.3892C>T c.5097C>T (p.His1699=) n.835C>T c.5040C>T (p.His1680=) c.5106C>T (p.His1702=) c.5031C>T (p.His1677=) n.2886C>T c.5163C>T (p.His1721=) c.5109C>T (p.His1703=) c.5124C>T (p.His1708=) c.5034C>T (p.His1678=) c.5159C>T n.3322C>T c.5232C>T (p.His1744=) n.4053C>T n.2490C>T n.2461C>T n.2351C>T c.4893C>T (p.His1631=) c.*4405C>T (n.*4405C>T) c.4929C>T (p.His1643=) n.2961C>T c.1420C>T n.2353C>T c.5292C>T (p.His1764=) c.5289C>T (p.His1763=) c.5181C>T (p.His1727=) c.5160C>T (p.His1720=) c.4506C>T (p.His1502=) c.5454C>T (p.His1818=) c.5202C>T (p.His1734=) c.3948C>T (p.His1316=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088306_2088308dup | CA658656658 | TSC2 | c.*3589_*3591dup (n.*3589_*3591dup) c.5087_5089dup (p.Ile1696_Lys1697insIle) c.5237_5239dup (p.Ile1746_Lys1747insIle) c.*5753_*5755dup (n.*5753_*5755dup) c.*7989_*7991dup (n.*7989_*7991dup) c.5240_5242dup (p.Ile1747_Lys1748insIle) c.5171_5173dup (p.Ile1724_Lys1725insIle) c.5039_5041dup (p.Ile1680_Lys1681insIle) c.5072_5074dup (p.Ile1691_Lys1692insIle) c.1463_1465dup n.3122_3124dup c.3894_3896dup c.5099_5101dup (p.Ile1700_Lys1701insIle) n.837_839dup c.5042_5044dup (p.Ile1681_Lys1682insIle) c.5108_5110dup (p.Ile1703_Lys1704insIle) c.5033_5035dup (p.Ile1678_Lys1679insIle) n.2888_2890dup c.5165_5167dup (p.Ile1722_Lys1723insIle) c.5111_5113dup (p.Ile1704_Lys1705insIle) c.5126_5128dup (p.Ile1709_Lys1710insIle) c.5036_5038dup (p.Ile1679_Lys1680insIle) c.5161_5163dup n.3324_3326dup c.5234_5236dup (p.Ile1745_Lys1746insIle) n.4055_4057dup n.2492_2494dup n.2463_2465dup n.2353_2355dup c.4895_4897dup (p.Ile1632_Lys1633insIle) c.*4407_*4409dup (n.*4407_*4409dup) c.4931_4933dup (p.Ile1644_Lys1645insIle) n.2963_2965dup c.1422_1424dup n.2355_2357dup c.5294_5296dup (p.Ile1765_Lys1766insIle) c.5291_5293dup (p.Ile1764_Lys1765insIle) c.5183_5185dup (p.Ile1728_Lys1729insIle) c.5162_5164dup (p.Ile1721_Lys1722insIle) c.4508_4510dup (p.Ile1503_Lys1504insIle) c.5456_5458dup (p.Ile1819_Lys1820insIle) c.5204_5206dup (p.Ile1735_Lys1736insIle) c.3950_3952dup (p.Ile1317_Lys1318insIle) | ClinVar dbSNP |
16 | g.2088305A>C | CA394314626 | TSC2 | c.*3588A>C (n.*3588A>C) c.5086A>C (p.Ile1696Leu) c.5236A>C (p.Ile1746Leu) c.*5752A>C (n.*5752A>C) c.*7988A>C (n.*7988A>C) c.5239A>C (p.Ile1747Leu) c.5170A>C (p.Ile1724Leu) c.5038A>C (p.Ile1680Leu) c.5071A>C (p.Ile1691Leu) c.1462A>C n.3121A>C c.3893A>C c.5098A>C (p.Ile1700Leu) n.836A>C c.5041A>C (p.Ile1681Leu) c.5107A>C (p.Ile1703Leu) c.5032A>C (p.Ile1678Leu) n.2887A>C c.5164A>C (p.Ile1722Leu) c.5110A>C (p.Ile1704Leu) c.5125A>C (p.Ile1709Leu) c.5035A>C (p.Ile1679Leu) c.5160A>C n.3323A>C c.5233A>C (p.Ile1745Leu) n.4054A>C n.2491A>C n.2462A>C n.2352A>C c.4894A>C (p.Ile1632Leu) c.*4406A>C (n.*4406A>C) c.4930A>C (p.Ile1644Leu) n.2962A>C c.1421A>C n.2354A>C c.5293A>C (p.Ile1765Leu) c.5290A>C (p.Ile1764Leu) c.5182A>C (p.Ile1728Leu) c.5161A>C (p.Ile1721Leu) c.4507A>C (p.Ile1503Leu) c.5455A>C (p.Ile1819Leu) c.5203A>C (p.Ile1735Leu) c.3949A>C (p.Ile1317Leu) | dbSNP |
16 | g.2088305A>G | CA394314628 | TSC2 | c.*3588A>G (n.*3588A>G) c.5086A>G (p.Ile1696Val) c.5236A>G (p.Ile1746Val) c.*5752A>G (n.*5752A>G) c.*7988A>G (n.*7988A>G) c.5239A>G (p.Ile1747Val) c.5170A>G (p.Ile1724Val) c.5038A>G (p.Ile1680Val) c.5071A>G (p.Ile1691Val) c.1462A>G n.3121A>G c.3893A>G c.5098A>G (p.Ile1700Val) n.836A>G c.5041A>G (p.Ile1681Val) c.5107A>G (p.Ile1703Val) c.5032A>G (p.Ile1678Val) n.2887A>G c.5164A>G (p.Ile1722Val) c.5110A>G (p.Ile1704Val) c.5125A>G (p.Ile1709Val) c.5035A>G (p.Ile1679Val) c.5160A>G n.3323A>G c.5233A>G (p.Ile1745Val) n.4054A>G n.2491A>G n.2462A>G n.2352A>G c.4894A>G (p.Ile1632Val) c.*4406A>G (n.*4406A>G) c.4930A>G (p.Ile1644Val) n.2962A>G c.1421A>G n.2354A>G c.5293A>G (p.Ile1765Val) c.5290A>G (p.Ile1764Val) c.5182A>G (p.Ile1728Val) c.5161A>G (p.Ile1721Val) c.4507A>G (p.Ile1503Val) c.5455A>G (p.Ile1819Val) c.5203A>G (p.Ile1735Val) c.3949A>G (p.Ile1317Val) | ClinVar |
16 | g.2088305A>T | CA394314631 | TSC2 | c.*3588A>T (n.*3588A>T) c.5086A>T (p.Ile1696Phe) c.5236A>T (p.Ile1746Phe) c.*5752A>T (n.*5752A>T) c.*7988A>T (n.*7988A>T) c.5239A>T (p.Ile1747Phe) c.5170A>T (p.Ile1724Phe) c.5038A>T (p.Ile1680Phe) c.5071A>T (p.Ile1691Phe) c.1462A>T n.3121A>T c.3893A>T c.5098A>T (p.Ile1700Phe) n.836A>T c.5041A>T (p.Ile1681Phe) c.5107A>T (p.Ile1703Phe) c.5032A>T (p.Ile1678Phe) n.2887A>T c.5164A>T (p.Ile1722Phe) c.5110A>T (p.Ile1704Phe) c.5125A>T (p.Ile1709Phe) c.5035A>T (p.Ile1679Phe) c.5160A>T n.3323A>T c.5233A>T (p.Ile1745Phe) n.4054A>T n.2491A>T n.2462A>T n.2352A>T c.4894A>T (p.Ile1632Phe) c.*4406A>T (n.*4406A>T) c.4930A>T (p.Ile1644Phe) n.2962A>T c.1421A>T n.2354A>T c.5293A>T (p.Ile1765Phe) c.5290A>T (p.Ile1764Phe) c.5182A>T (p.Ile1728Phe) c.5161A>T (p.Ile1721Phe) c.4507A>T (p.Ile1503Phe) c.5455A>T (p.Ile1819Phe) c.5203A>T (p.Ile1735Phe) c.3949A>T (p.Ile1317Phe) | ClinVar dbSNP |
16 | g.2088305_2088322del | CA2580091166 | TSC2 | c.*3588_*3605del (n.*3588_*3605del) c.5086_5103del (p.Ile1696_Gln1701del) c.5236_5253del (p.Ile1746_Gln1751del) c.*5752_*5769del (n.*5752_*5769del) c.*7988_*8005del (n.*7988_*8005del) c.5239_5256del (p.Ile1747_Gln1752del) c.5170_5187del (p.Ile1724_Gln1729del) c.5038_5055del (p.Ile1680_Gln1685del) c.5071_5088del (p.Ile1691_Gln1696del) c.1462_1479del n.3121_3138del c.3893_3910del c.5098_5115del (p.Ile1700_Gln1705del) n.836_853del c.5041_5058del (p.Ile1681_Gln1686del) c.5107_5124del (p.Ile1703_Gln1708del) c.5032_5049del (p.Ile1678_Gln1683del) n.2887_2904del c.5164_5181del (p.Ile1722_Gln1727del) c.5110_5127del (p.Ile1704_Gln1709del) c.5125_5142del (p.Ile1709_Gln1714del) c.5035_5052del (p.Ile1679_Gln1684del) c.5160_5177del n.3323_3340del c.5233_5250del (p.Ile1745_Gln1750del) n.4054_4071del n.2491_2508del n.2462_2479del n.2352_2369del c.4894_4911del (p.Ile1632_Gln1637del) c.*4406_*4423del (n.*4406_*4423del) c.4930_4947del (p.Ile1644_Gln1649del) n.2962_2979del c.1421_1438del n.2354_2371del c.5293_5310del (p.Ile1765_Gln1770del) c.5290_5307del (p.Ile1764_Gln1769del) c.5182_5199del (p.Ile1728_Gln1733del) c.5161_5178del (p.Ile1721_Gln1726del) c.4507_4524del (p.Ile1503_Gln1508del) c.5455_5472del (p.Ile1819_Gln1824del) c.5203_5220del (p.Ile1735_Gln1740del) c.3949_3966del (p.Ile1317_Gln1322del) | ClinVar dbSNP |
16 | g.2088306T>A | CA394314637 | TSC2 | c.*3589T>A (n.*3589T>A) c.5087T>A (p.Ile1696Asn) c.5237T>A (p.Ile1746Asn) c.*5753T>A (n.*5753T>A) c.*7989T>A (n.*7989T>A) c.5240T>A (p.Ile1747Asn) c.5171T>A (p.Ile1724Asn) c.5039T>A (p.Ile1680Asn) c.5072T>A (p.Ile1691Asn) c.1463T>A n.3122T>A c.3894T>A c.5099T>A (p.Ile1700Asn) n.837T>A c.5042T>A (p.Ile1681Asn) c.5108T>A (p.Ile1703Asn) c.5033T>A (p.Ile1678Asn) n.2888T>A c.5165T>A (p.Ile1722Asn) c.5111T>A (p.Ile1704Asn) c.5126T>A (p.Ile1709Asn) c.5036T>A (p.Ile1679Asn) c.5161T>A n.3324T>A c.5234T>A (p.Ile1745Asn) n.4055T>A n.2492T>A n.2463T>A n.2353T>A c.4895T>A (p.Ile1632Asn) c.*4407T>A (n.*4407T>A) c.4931T>A (p.Ile1644Asn) n.2963T>A c.1422T>A n.2355T>A c.5294T>A (p.Ile1765Asn) c.5291T>A (p.Ile1764Asn) c.5183T>A (p.Ile1728Asn) c.5162T>A (p.Ile1721Asn) c.4508T>A (p.Ile1503Asn) c.5456T>A (p.Ile1819Asn) c.5204T>A (p.Ile1735Asn) c.3950T>A (p.Ile1317Asn) | dbSNP |
16 | g.2088306T>C | CA394314640 | TSC2 | c.*3589T>C (n.*3589T>C) c.5087T>C (p.Ile1696Thr) c.5237T>C (p.Ile1746Thr) c.*5753T>C (n.*5753T>C) c.*7989T>C (n.*7989T>C) c.5240T>C (p.Ile1747Thr) c.5171T>C (p.Ile1724Thr) c.5039T>C (p.Ile1680Thr) c.5072T>C (p.Ile1691Thr) c.1463T>C n.3122T>C c.3894T>C c.5099T>C (p.Ile1700Thr) n.837T>C c.5042T>C (p.Ile1681Thr) c.5108T>C (p.Ile1703Thr) c.5033T>C (p.Ile1678Thr) n.2888T>C c.5165T>C (p.Ile1722Thr) c.5111T>C (p.Ile1704Thr) c.5126T>C (p.Ile1709Thr) c.5036T>C (p.Ile1679Thr) c.5161T>C n.3324T>C c.5234T>C (p.Ile1745Thr) n.4055T>C n.2492T>C n.2463T>C n.2353T>C c.4895T>C (p.Ile1632Thr) c.*4407T>C (n.*4407T>C) c.4931T>C (p.Ile1644Thr) n.2963T>C c.1422T>C n.2355T>C c.5294T>C (p.Ile1765Thr) c.5291T>C (p.Ile1764Thr) c.5183T>C (p.Ile1728Thr) c.5162T>C (p.Ile1721Thr) c.4508T>C (p.Ile1503Thr) c.5456T>C (p.Ile1819Thr) c.5204T>C (p.Ile1735Thr) c.3950T>C (p.Ile1317Thr) | dbSNP |
16 | g.2088306T>G | CA394314643 | TSC2 | c.*3589T>G (n.*3589T>G) c.5087T>G (p.Ile1696Ser) c.5237T>G (p.Ile1746Ser) c.*5753T>G (n.*5753T>G) c.*7989T>G (n.*7989T>G) c.5240T>G (p.Ile1747Ser) c.5171T>G (p.Ile1724Ser) c.5039T>G (p.Ile1680Ser) c.5072T>G (p.Ile1691Ser) c.1463T>G n.3122T>G c.3894T>G c.5099T>G (p.Ile1700Ser) n.837T>G c.5042T>G (p.Ile1681Ser) c.5108T>G (p.Ile1703Ser) c.5033T>G (p.Ile1678Ser) n.2888T>G c.5165T>G (p.Ile1722Ser) c.5111T>G (p.Ile1704Ser) c.5126T>G (p.Ile1709Ser) c.5036T>G (p.Ile1679Ser) c.5161T>G n.3324T>G c.5234T>G (p.Ile1745Ser) n.4055T>G n.2492T>G n.2463T>G n.2353T>G c.4895T>G (p.Ile1632Ser) c.*4407T>G (n.*4407T>G) c.4931T>G (p.Ile1644Ser) n.2963T>G c.1422T>G n.2355T>G c.5294T>G (p.Ile1765Ser) c.5291T>G (p.Ile1764Ser) c.5183T>G (p.Ile1728Ser) c.5162T>G (p.Ile1721Ser) c.4508T>G (p.Ile1503Ser) c.5456T>G (p.Ile1819Ser) c.5204T>G (p.Ile1735Ser) c.3950T>G (p.Ile1317Ser) | |
16 | g.2088306_2088317del | CA2580091167 | TSC2 | c.*3589_*3600del (n.*3589_*3600del) c.5087_5098del (p.Ile1696_Arg1700delinsSer) c.5237_5248del (p.Ile1746_Arg1750delinsSer) c.*5753_*5764del (n.*5753_*5764del) c.*7989_*8000del (n.*7989_*8000del) c.5240_5251del (p.Ile1747_Arg1751delinsSer) c.5171_5182del (p.Ile1724_Arg1728delinsSer) c.5039_5050del (p.Ile1680_Arg1684delinsSer) c.5072_5083del (p.Ile1691_Arg1695delinsSer) c.1463_1474del n.3122_3133del c.3894_3905del c.5099_5110del (p.Ile1700_Arg1704delinsSer) n.837_848del c.5042_5053del (p.Ile1681_Arg1685delinsSer) c.5108_5119del (p.Ile1703_Arg1707delinsSer) c.5033_5044del (p.Ile1678_Arg1682delinsSer) n.2888_2899del c.5165_5176del (p.Ile1722_Arg1726delinsSer) c.5111_5122del (p.Ile1704_Arg1708delinsSer) c.5126_5137del (p.Ile1709_Arg1713delinsSer) c.5036_5047del (p.Ile1679_Arg1683delinsSer) c.5161_5172del n.3324_3335del c.5234_5245del (p.Ile1745_Arg1749delinsSer) n.4055_4066del n.2492_2503del n.2463_2474del n.2353_2364del c.4895_4906del (p.Ile1632_Arg1636delinsSer) c.*4407_*4418del (n.*4407_*4418del) c.4931_4942del (p.Ile1644_Arg1648delinsSer) n.2963_2974del c.1422_1433del n.2355_2366del c.5294_5305del (p.Ile1765_Arg1769delinsSer) c.5291_5302del (p.Ile1764_Arg1768delinsSer) c.5183_5194del (p.Ile1728_Arg1732delinsSer) c.5162_5173del (p.Ile1721_Arg1725delinsSer) c.4508_4519del (p.Ile1503_Arg1507delinsSer) c.5456_5467del (p.Ile1819_Arg1823delinsSer) c.5204_5215del (p.Ile1735_Arg1739delinsSer) c.3950_3961del (p.Ile1317_Arg1321delinsSer) | ClinVar |
16 | g.2088308_2088468del | CA2697549443 | TSC2 | c.*3591_*3631del c.5089_5129del c.5239_5279del c.*5755_*5795del c.*7991_*8031del c.5242_5282del c.5173_5213del c.5041_5081del c.5074_5114del c.1465_1505del n.3124_3164del c.3896_3936del c.5101_5141del n.839_879del c.5044_5084del c.5110_5150del c.5035_5075del n.2890_2930del c.5167_5207del c.5113_5153del c.5128_5168del c.5038_5078del c.5163_5203del n.3326_3366del c.5236_5276del n.4057_4097del n.2494_2534del n.2465_2505del n.2355_2395del c.4897_4937del c.*4409_*4449del c.4933_4973del n.2965_3005del c.1424_1464del n.2357_2397del c.5296_5336del c.5293_5333del c.5185_5225del c.5164_5204del c.4510_4550del c.5458_5498del c.5206_5246del c.3952_3992del | ClinVar |
16 | g.2088307C>A | CA493043846 | TSC2 | c.*3590C>A (n.*3590C>A) c.5088C>A (p.Ile1696=) c.5238C>A (p.Ile1746=) c.*5754C>A (n.*5754C>A) c.*7990C>A (n.*7990C>A) c.5241C>A (p.Ile1747=) c.5172C>A (p.Ile1724=) c.5040C>A (p.Ile1680=) c.5073C>A (p.Ile1691=) c.1464C>A n.3123C>A c.3895C>A c.5100C>A (p.Ile1700=) n.838C>A c.5043C>A (p.Ile1681=) c.5109C>A (p.Ile1703=) c.5034C>A (p.Ile1678=) n.2889C>A c.5166C>A (p.Ile1722=) c.5112C>A (p.Ile1704=) c.5127C>A (p.Ile1709=) c.5037C>A (p.Ile1679=) c.5162C>A n.3325C>A c.5235C>A (p.Ile1745=) n.4056C>A n.2493C>A n.2464C>A n.2354C>A c.4896C>A (p.Ile1632=) c.*4408C>A (n.*4408C>A) c.4932C>A (p.Ile1644=) n.2964C>A c.1423C>A n.2356C>A c.5295C>A (p.Ile1765=) c.5292C>A (p.Ile1764=) c.5184C>A (p.Ile1728=) c.5163C>A (p.Ile1721=) c.4509C>A (p.Ile1503=) c.5457C>A (p.Ile1819=) c.5205C>A (p.Ile1735=) c.3951C>A (p.Ile1317=) | ClinVar |
16 | g.2088307C>G | CA394314649 | TSC2 | c.*3590C>G (n.*3590C>G) c.5088C>G (p.Ile1696Met) c.5238C>G (p.Ile1746Met) c.*5754C>G (n.*5754C>G) c.*7990C>G (n.*7990C>G) c.5241C>G (p.Ile1747Met) c.5172C>G (p.Ile1724Met) c.5040C>G (p.Ile1680Met) c.5073C>G (p.Ile1691Met) c.1464C>G n.3123C>G c.3895C>G c.5100C>G (p.Ile1700Met) n.838C>G c.5043C>G (p.Ile1681Met) c.5109C>G (p.Ile1703Met) c.5034C>G (p.Ile1678Met) n.2889C>G c.5166C>G (p.Ile1722Met) c.5112C>G (p.Ile1704Met) c.5127C>G (p.Ile1709Met) c.5037C>G (p.Ile1679Met) c.5162C>G n.3325C>G c.5235C>G (p.Ile1745Met) n.4056C>G n.2493C>G n.2464C>G n.2354C>G c.4896C>G (p.Ile1632Met) c.*4408C>G (n.*4408C>G) c.4932C>G (p.Ile1644Met) n.2964C>G c.1423C>G n.2356C>G c.5295C>G (p.Ile1765Met) c.5292C>G (p.Ile1764Met) c.5184C>G (p.Ile1728Met) c.5163C>G (p.Ile1721Met) c.4509C>G (p.Ile1503Met) c.5457C>G (p.Ile1819Met) c.5205C>G (p.Ile1735Met) c.3951C>G (p.Ile1317Met) | ClinVar |
16 | g.2088307C>T | CA493043848 | TSC2 | c.*3590C>T (n.*3590C>T) c.5088C>T (p.Ile1696=) c.5238C>T (p.Ile1746=) c.*5754C>T (n.*5754C>T) c.*7990C>T (n.*7990C>T) c.5241C>T (p.Ile1747=) c.5172C>T (p.Ile1724=) c.5040C>T (p.Ile1680=) c.5073C>T (p.Ile1691=) c.1464C>T n.3123C>T c.3895C>T c.5100C>T (p.Ile1700=) n.838C>T c.5043C>T (p.Ile1681=) c.5109C>T (p.Ile1703=) c.5034C>T (p.Ile1678=) n.2889C>T c.5166C>T (p.Ile1722=) c.5112C>T (p.Ile1704=) c.5127C>T (p.Ile1709=) c.5037C>T (p.Ile1679=) c.5162C>T n.3325C>T c.5235C>T (p.Ile1745=) n.4056C>T n.2493C>T n.2464C>T n.2354C>T c.4896C>T (p.Ile1632=) c.*4408C>T (n.*4408C>T) c.4932C>T (p.Ile1644=) n.2964C>T c.1423C>T n.2356C>T c.5295C>T (p.Ile1765=) c.5292C>T (p.Ile1764=) c.5184C>T (p.Ile1728=) c.5163C>T (p.Ile1721=) c.4509C>T (p.Ile1503=) c.5457C>T (p.Ile1819=) c.5205C>T (p.Ile1735=) c.3951C>T (p.Ile1317=) | dbSNP |
16 | g.2088308A>C | CA394314654 | TSC2 | c.*3591A>C (n.*3591A>C) c.5089A>C (p.Lys1697Gln) c.5239A>C (p.Lys1747Gln) c.*5755A>C (n.*5755A>C) c.*7991A>C (n.*7991A>C) c.5242A>C (p.Lys1748Gln) c.5173A>C (p.Lys1725Gln) c.5041A>C (p.Lys1681Gln) c.5074A>C (p.Lys1692Gln) c.1465A>C n.3124A>C c.3896A>C c.5101A>C (p.Lys1701Gln) n.839A>C c.5044A>C (p.Lys1682Gln) c.5110A>C (p.Lys1704Gln) c.5035A>C (p.Lys1679Gln) n.2890A>C c.5167A>C (p.Lys1723Gln) c.5113A>C (p.Lys1705Gln) c.5128A>C (p.Lys1710Gln) c.5038A>C (p.Lys1680Gln) c.5163A>C n.3326A>C c.5236A>C (p.Lys1746Gln) n.4057A>C n.2494A>C n.2465A>C n.2355A>C c.4897A>C (p.Lys1633Gln) c.*4409A>C (n.*4409A>C) c.4933A>C (p.Lys1645Gln) n.2965A>C c.1424A>C n.2357A>C c.5296A>C (p.Lys1766Gln) c.5293A>C (p.Lys1765Gln) c.5185A>C (p.Lys1729Gln) c.5164A>C (p.Lys1722Gln) c.4510A>C (p.Lys1504Gln) c.5458A>C (p.Lys1820Gln) c.5206A>C (p.Lys1736Gln) c.3952A>C (p.Lys1318Gln) | |
16 | g.2088308A>G | CA394314657 | TSC2 | c.*3591A>G (n.*3591A>G) c.5089A>G (p.Lys1697Glu) c.5239A>G (p.Lys1747Glu) c.*5755A>G (n.*5755A>G) c.*7991A>G (n.*7991A>G) c.5242A>G (p.Lys1748Glu) c.5173A>G (p.Lys1725Glu) c.5041A>G (p.Lys1681Glu) c.5074A>G (p.Lys1692Glu) c.1465A>G n.3124A>G c.3896A>G c.5101A>G (p.Lys1701Glu) n.839A>G c.5044A>G (p.Lys1682Glu) c.5110A>G (p.Lys1704Glu) c.5035A>G (p.Lys1679Glu) n.2890A>G c.5167A>G (p.Lys1723Glu) c.5113A>G (p.Lys1705Glu) c.5128A>G (p.Lys1710Glu) c.5038A>G (p.Lys1680Glu) c.5163A>G n.3326A>G c.5236A>G (p.Lys1746Glu) n.4057A>G n.2494A>G n.2465A>G n.2355A>G c.4897A>G (p.Lys1633Glu) c.*4409A>G (n.*4409A>G) c.4933A>G (p.Lys1645Glu) n.2965A>G c.1424A>G n.2357A>G c.5296A>G (p.Lys1766Glu) c.5293A>G (p.Lys1765Glu) c.5185A>G (p.Lys1729Glu) c.5164A>G (p.Lys1722Glu) c.4510A>G (p.Lys1504Glu) c.5458A>G (p.Lys1820Glu) c.5206A>G (p.Lys1736Glu) c.3952A>G (p.Lys1318Glu) | dbSNP |
16 | g.2088308A>T | CA394314659 | TSC2 | c.*3591A>T (n.*3591A>T) c.5089A>T (p.Lys1697Ter) c.5239A>T (p.Lys1747Ter) c.*5755A>T (n.*5755A>T) c.*7991A>T (n.*7991A>T) c.5242A>T (p.Lys1748Ter) c.5173A>T (p.Lys1725Ter) c.5041A>T (p.Lys1681Ter) c.5074A>T (p.Lys1692Ter) c.1465A>T n.3124A>T c.3896A>T c.5101A>T (p.Lys1701Ter) n.839A>T c.5044A>T (p.Lys1682Ter) c.5110A>T (p.Lys1704Ter) c.5035A>T (p.Lys1679Ter) n.2890A>T c.5167A>T (p.Lys1723Ter) c.5113A>T (p.Lys1705Ter) c.5128A>T (p.Lys1710Ter) c.5038A>T (p.Lys1680Ter) c.5163A>T n.3326A>T c.5236A>T (p.Lys1746Ter) n.4057A>T n.2494A>T n.2465A>T n.2355A>T c.4897A>T (p.Lys1633Ter) c.*4409A>T (n.*4409A>T) c.4933A>T (p.Lys1645Ter) n.2965A>T c.1424A>T n.2357A>T c.5296A>T (p.Lys1766Ter) c.5293A>T (p.Lys1765Ter) c.5185A>T (p.Lys1729Ter) c.5164A>T (p.Lys1722Ter) c.4510A>T (p.Lys1504Ter) c.5458A>T (p.Lys1820Ter) c.5206A>T (p.Lys1736Ter) c.3952A>T (p.Lys1318Ter) | dbSNP |
16 | g.2088309A= | CA2202032603 | TSC2 | c.*3592A= (n.*3592A=) c.5090A= (p.Lys1697=) c.5240A= (p.Lys1747=) c.*5756A= (n.*5756A=) c.*7992A= (n.*7992A=) c.5243A= (p.Lys1748=) c.5174A= (p.Lys1725=) c.5042A= (p.Lys1681=) c.5075A= (p.Lys1692=) c.1466A= n.3125A= c.3897A= c.5102A= (p.Lys1701=) n.840A= c.5045A= (p.Lys1682=) c.5111A= (p.Lys1704=) c.5036A= (p.Lys1679=) n.2891A= c.5168A= (p.Lys1723=) c.5114A= (p.Lys1705=) c.5129A= (p.Lys1710=) c.5039A= (p.Lys1680=) c.5164A= n.3327A= c.5237A= (p.Lys1746=) n.4058A= n.2495A= n.2466A= n.2356A= c.4898A= (p.Lys1633=) c.*4410A= (n.*4410A=) c.4934A= (p.Lys1645=) n.2966A= c.1425A= n.2358A= c.5297A= (p.Lys1766=) c.5294A= (p.Lys1765=) c.5186A= (p.Lys1729=) c.5165A= (p.Lys1722=) c.4511A= (p.Lys1504=) c.5459A= (p.Lys1820=) c.5207A= (p.Lys1736=) c.3953A= (p.Lys1318=) | |
16 | g.2088309A>C | CA394314672 | TSC2 | c.*3592A>C (n.*3592A>C) c.5090A>C (p.Lys1697Thr) c.5240A>C (p.Lys1747Thr) c.*5756A>C (n.*5756A>C) c.*7992A>C (n.*7992A>C) c.5243A>C (p.Lys1748Thr) c.5174A>C (p.Lys1725Thr) c.5042A>C (p.Lys1681Thr) c.5075A>C (p.Lys1692Thr) c.1466A>C n.3125A>C c.3897A>C c.5102A>C (p.Lys1701Thr) n.840A>C c.5045A>C (p.Lys1682Thr) c.5111A>C (p.Lys1704Thr) c.5036A>C (p.Lys1679Thr) n.2891A>C c.5168A>C (p.Lys1723Thr) c.5114A>C (p.Lys1705Thr) c.5129A>C (p.Lys1710Thr) c.5039A>C (p.Lys1680Thr) c.5164A>C n.3327A>C c.5237A>C (p.Lys1746Thr) n.4058A>C n.2495A>C n.2466A>C n.2356A>C c.4898A>C (p.Lys1633Thr) c.*4410A>C (n.*4410A>C) c.4934A>C (p.Lys1645Thr) n.2966A>C c.1425A>C n.2358A>C c.5297A>C (p.Lys1766Thr) c.5294A>C (p.Lys1765Thr) c.5186A>C (p.Lys1729Thr) c.5165A>C (p.Lys1722Thr) c.4511A>C (p.Lys1504Thr) c.5459A>C (p.Lys1820Thr) c.5207A>C (p.Lys1736Thr) c.3953A>C (p.Lys1318Thr) | ClinVar dbSNP |
16 | g.2088309A>G | CA054538 | TSC2 | c.*3592A>G (n.*3592A>G) c.5090A>G (p.Lys1697Arg) c.5240A>G (p.Lys1747Arg) c.*5756A>G (n.*5756A>G) c.*7992A>G (n.*7992A>G) c.5243A>G (p.Lys1748Arg) c.5174A>G (p.Lys1725Arg) c.5042A>G (p.Lys1681Arg) c.5075A>G (p.Lys1692Arg) c.1466A>G n.3125A>G c.3897A>G c.5102A>G (p.Lys1701Arg) n.840A>G c.5045A>G (p.Lys1682Arg) c.5111A>G (p.Lys1704Arg) c.5036A>G (p.Lys1679Arg) n.2891A>G c.5168A>G (p.Lys1723Arg) c.5114A>G (p.Lys1705Arg) c.5129A>G (p.Lys1710Arg) c.5039A>G (p.Lys1680Arg) c.5164A>G n.3327A>G c.5237A>G (p.Lys1746Arg) n.4058A>G n.2495A>G n.2466A>G n.2356A>G c.4898A>G (p.Lys1633Arg) c.*4410A>G (n.*4410A>G) c.4934A>G (p.Lys1645Arg) n.2966A>G c.1425A>G n.2358A>G c.5297A>G (p.Lys1766Arg) c.5294A>G (p.Lys1765Arg) c.5186A>G (p.Lys1729Arg) c.5165A>G (p.Lys1722Arg) c.4511A>G (p.Lys1504Arg) c.5459A>G (p.Lys1820Arg) c.5207A>G (p.Lys1736Arg) c.3953A>G (p.Lys1318Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088309A>T | CA394314669 | TSC2 | c.*3592A>T (n.*3592A>T) c.5090A>T (p.Lys1697Met) c.5240A>T (p.Lys1747Met) c.*5756A>T (n.*5756A>T) c.*7992A>T (n.*7992A>T) c.5243A>T (p.Lys1748Met) c.5174A>T (p.Lys1725Met) c.5042A>T (p.Lys1681Met) c.5075A>T (p.Lys1692Met) c.1466A>T n.3125A>T c.3897A>T c.5102A>T (p.Lys1701Met) n.840A>T c.5045A>T (p.Lys1682Met) c.5111A>T (p.Lys1704Met) c.5036A>T (p.Lys1679Met) n.2891A>T c.5168A>T (p.Lys1723Met) c.5114A>T (p.Lys1705Met) c.5129A>T (p.Lys1710Met) c.5039A>T (p.Lys1680Met) c.5164A>T n.3327A>T c.5237A>T (p.Lys1746Met) n.4058A>T n.2495A>T n.2466A>T n.2356A>T c.4898A>T (p.Lys1633Met) c.*4410A>T (n.*4410A>T) c.4934A>T (p.Lys1645Met) n.2966A>T c.1425A>T n.2358A>T c.5297A>T (p.Lys1766Met) c.5294A>T (p.Lys1765Met) c.5186A>T (p.Lys1729Met) c.5165A>T (p.Lys1722Met) c.4511A>T (p.Lys1504Met) c.5459A>T (p.Lys1820Met) c.5207A>T (p.Lys1736Met) c.3953A>T (p.Lys1318Met) | dbSNP |
16 | g.2088310G>A | CA054548 | TSC2 | c.*3593G>A (n.*3593G>A) c.5091G>A (p.Lys1697=) c.5241G>A (p.Lys1747=) c.*5757G>A (n.*5757G>A) c.*7993G>A (n.*7993G>A) c.5244G>A (p.Lys1748=) c.5175G>A (p.Lys1725=) c.5043G>A (p.Lys1681=) c.5076G>A (p.Lys1692=) c.1467G>A n.3126G>A c.3898G>A c.5103G>A (p.Lys1701=) n.841G>A c.5046G>A (p.Lys1682=) c.5112G>A (p.Lys1704=) c.5037G>A (p.Lys1679=) n.2892G>A c.5169G>A (p.Lys1723=) c.5115G>A (p.Lys1705=) c.5130G>A (p.Lys1710=) c.5040G>A (p.Lys1680=) c.5165G>A n.3328G>A c.5238G>A (p.Lys1746=) n.4059G>A n.2496G>A n.2467G>A n.2357G>A c.4899G>A (p.Lys1633=) c.*4411G>A (n.*4411G>A) c.4935G>A (p.Lys1645=) n.2967G>A c.1426G>A n.2359G>A c.5298G>A (p.Lys1766=) c.5295G>A (p.Lys1765=) c.5187G>A (p.Lys1729=) c.5166G>A (p.Lys1722=) c.4512G>A (p.Lys1504=) c.5460G>A (p.Lys1820=) c.5208G>A (p.Lys1736=) c.3954G>A (p.Lys1318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088310G>C | CA394314681 | TSC2 | c.*3593G>C (n.*3593G>C) c.5091G>C (p.Lys1697Asn) c.5241G>C (p.Lys1747Asn) c.*5757G>C (n.*5757G>C) c.*7993G>C (n.*7993G>C) c.5244G>C (p.Lys1748Asn) c.5175G>C (p.Lys1725Asn) c.5043G>C (p.Lys1681Asn) c.5076G>C (p.Lys1692Asn) c.1467G>C n.3126G>C c.3898G>C c.5103G>C (p.Lys1701Asn) n.841G>C c.5046G>C (p.Lys1682Asn) c.5112G>C (p.Lys1704Asn) c.5037G>C (p.Lys1679Asn) n.2892G>C c.5169G>C (p.Lys1723Asn) c.5115G>C (p.Lys1705Asn) c.5130G>C (p.Lys1710Asn) c.5040G>C (p.Lys1680Asn) c.5165G>C n.3328G>C c.5238G>C (p.Lys1746Asn) n.4059G>C n.2496G>C n.2467G>C n.2357G>C c.4899G>C (p.Lys1633Asn) c.*4411G>C (n.*4411G>C) c.4935G>C (p.Lys1645Asn) n.2967G>C c.1426G>C n.2359G>C c.5298G>C (p.Lys1766Asn) c.5295G>C (p.Lys1765Asn) c.5187G>C (p.Lys1729Asn) c.5166G>C (p.Lys1722Asn) c.4512G>C (p.Lys1504Asn) c.5460G>C (p.Lys1820Asn) c.5208G>C (p.Lys1736Asn) c.3954G>C (p.Lys1318Asn) | dbSNP |
16 | g.2088310G= | CA2202032619 | TSC2 | c.*3593G= (n.*3593G=) c.5091G= (p.Lys1697=) c.5241G= (p.Lys1747=) c.*5757G= (n.*5757G=) c.*7993G= (n.*7993G=) c.5244G= (p.Lys1748=) c.5175G= (p.Lys1725=) c.5043G= (p.Lys1681=) c.5076G= (p.Lys1692=) c.1467G= n.3126G= c.3898G= c.5103G= (p.Lys1701=) n.841G= c.5046G= (p.Lys1682=) c.5112G= (p.Lys1704=) c.5037G= (p.Lys1679=) n.2892G= c.5169G= (p.Lys1723=) c.5115G= (p.Lys1705=) c.5130G= (p.Lys1710=) c.5040G= (p.Lys1680=) c.5165G= n.3328G= c.5238G= (p.Lys1746=) n.4059G= n.2496G= n.2467G= n.2357G= c.4899G= (p.Lys1633=) c.*4411G= (n.*4411G=) c.4935G= (p.Lys1645=) n.2967G= c.1426G= n.2359G= c.5298G= (p.Lys1766=) c.5295G= (p.Lys1765=) c.5187G= (p.Lys1729=) c.5166G= (p.Lys1722=) c.4512G= (p.Lys1504=) c.5460G= (p.Lys1820=) c.5208G= (p.Lys1736=) c.3954G= (p.Lys1318=) | |
16 | g.2088310G>T | CA394314691 | TSC2 | c.*3593G>T (n.*3593G>T) c.5091G>T (p.Lys1697Asn) c.5241G>T (p.Lys1747Asn) c.*5757G>T (n.*5757G>T) c.*7993G>T (n.*7993G>T) c.5244G>T (p.Lys1748Asn) c.5175G>T (p.Lys1725Asn) c.5043G>T (p.Lys1681Asn) c.5076G>T (p.Lys1692Asn) c.1467G>T n.3126G>T c.3898G>T c.5103G>T (p.Lys1701Asn) n.841G>T c.5046G>T (p.Lys1682Asn) c.5112G>T (p.Lys1704Asn) c.5037G>T (p.Lys1679Asn) n.2892G>T c.5169G>T (p.Lys1723Asn) c.5115G>T (p.Lys1705Asn) c.5130G>T (p.Lys1710Asn) c.5040G>T (p.Lys1680Asn) c.5165G>T n.3328G>T c.5238G>T (p.Lys1746Asn) n.4059G>T n.2496G>T n.2467G>T n.2357G>T c.4899G>T (p.Lys1633Asn) c.*4411G>T (n.*4411G>T) c.4935G>T (p.Lys1645Asn) n.2967G>T c.1426G>T n.2359G>T c.5298G>T (p.Lys1766Asn) c.5295G>T (p.Lys1765Asn) c.5187G>T (p.Lys1729Asn) c.5166G>T (p.Lys1722Asn) c.4512G>T (p.Lys1504Asn) c.5460G>T (p.Lys1820Asn) c.5208G>T (p.Lys1736Asn) c.3954G>T (p.Lys1318Asn) | |
16 | g.2088312_2088319dup | CA913184877 | TSC2 | c.*3595_*3602dup (n.*3595_*3602dup) c.5093_5100dup (p.Gln1701GlyfsTer?) c.5243_5250dup (p.Gln1751GlyfsTer?) c.*5759_*5766dup (n.*5759_*5766dup) c.*7995_*8002dup (n.*7995_*8002dup) c.5246_5253dup (p.Gln1752GlyfsTer?) c.5177_5184dup (p.Gln1729GlyfsTer?) c.5045_5052dup (p.Gln1685GlyfsTer?) c.5078_5085dup (p.Gln1696GlyfsTer?) c.1469_1476dup n.3128_3135dup c.3900_3907dup c.5105_5112dup (p.Gln1705GlyfsTer?) n.843_850dup c.5048_5055dup (p.Gln1686GlyfsTer?) c.5114_5121dup (p.Gln1708GlyfsTer?) c.5039_5046dup (p.Gln1683GlyfsTer?) n.2894_2901dup c.5171_5178dup (p.Gln1727GlyfsTer?) c.5117_5124dup (p.Gln1709GlyfsTer?) c.5132_5139dup (p.Gln1714GlyfsTer?) c.5042_5049dup (p.Gln1684GlyfsTer?) c.5167_5174dup n.3330_3337dup c.5240_5247dup (p.Gln1750GlyfsTer?) n.4061_4068dup n.2498_2505dup n.2469_2476dup n.2359_2366dup c.4901_4908dup (p.Gln1637GlyfsTer?) c.*4413_*4420dup (n.*4413_*4420dup) c.4937_4944dup (p.Gln1649GlyfsTer?) n.2969_2976dup c.1428_1435dup n.2361_2368dup c.5300_5307dup (p.Gln1770GlyfsTer?) c.5297_5304dup (p.Gln1769GlyfsTer?) c.5189_5196dup (p.Gln1733GlyfsTer?) c.5168_5175dup (p.Gln1726GlyfsTer?) c.4514_4521dup (p.Gln1508GlyfsTer?) c.5462_5469dup (p.Gln1824GlyfsTer?) c.5210_5217dup (p.Gln1740GlyfsTer?) c.3956_3963dup (p.Gln1322GlyfsTer?) | |
16 | g.2088311C>A | CA493043851 | TSC2 | c.*3594C>A (n.*3594C>A) c.5092C>A (p.Arg1698=) c.5242C>A (p.Arg1748=) c.*5758C>A (n.*5758C>A) c.*7994C>A (n.*7994C>A) c.5245C>A (p.Arg1749=) c.5176C>A (p.Arg1726=) c.5044C>A (p.Arg1682=) c.5077C>A (p.Arg1693=) c.1468C>A n.3127C>A c.3899C>A c.5104C>A (p.Arg1702=) n.842C>A c.5047C>A (p.Arg1683=) c.5113C>A (p.Arg1705=) c.5038C>A (p.Arg1680=) n.2893C>A c.5170C>A (p.Arg1724=) c.5116C>A (p.Arg1706=) c.5131C>A (p.Arg1711=) c.5041C>A (p.Arg1681=) c.5166C>A n.3329C>A c.5239C>A (p.Arg1747=) n.4060C>A n.2497C>A n.2468C>A n.2358C>A c.4900C>A (p.Arg1634=) c.*4412C>A (n.*4412C>A) c.4936C>A (p.Arg1646=) n.2968C>A c.1427C>A n.2360C>A c.5299C>A (p.Arg1767=) c.5296C>A (p.Arg1766=) c.5188C>A (p.Arg1730=) c.5167C>A (p.Arg1723=) c.4513C>A (p.Arg1505=) c.5461C>A (p.Arg1821=) c.5209C>A (p.Arg1737=) c.3955C>A (p.Arg1319=) | dbSNP |
16 | g.2088311C= | CA2202032633 | TSC2 | c.*3594C= (n.*3594C=) c.5092C= (p.Arg1698=) c.5242C= (p.Arg1748=) c.*5758C= (n.*5758C=) c.*7994C= (n.*7994C=) c.5245C= (p.Arg1749=) c.5176C= (p.Arg1726=) c.5044C= (p.Arg1682=) c.5077C= (p.Arg1693=) c.1468C= n.3127C= c.3899C= c.5104C= (p.Arg1702=) n.842C= c.5047C= (p.Arg1683=) c.5113C= (p.Arg1705=) c.5038C= (p.Arg1680=) n.2893C= c.5170C= (p.Arg1724=) c.5116C= (p.Arg1706=) c.5131C= (p.Arg1711=) c.5041C= (p.Arg1681=) c.5166C= n.3329C= c.5239C= (p.Arg1747=) n.4060C= n.2497C= n.2468C= n.2358C= c.4900C= (p.Arg1634=) c.*4412C= (n.*4412C=) c.4936C= (p.Arg1646=) n.2968C= c.1427C= n.2360C= c.5299C= (p.Arg1767=) c.5296C= (p.Arg1766=) c.5188C= (p.Arg1730=) c.5167C= (p.Arg1723=) c.4513C= (p.Arg1505=) c.5461C= (p.Arg1821=) c.5209C= (p.Arg1737=) c.3955C= (p.Arg1319=) | |
16 | g.2088311C>G | CA394314695 | TSC2 | c.*3594C>G (n.*3594C>G) c.5092C>G (p.Arg1698Gly) c.5242C>G (p.Arg1748Gly) c.*5758C>G (n.*5758C>G) c.*7994C>G (n.*7994C>G) c.5245C>G (p.Arg1749Gly) c.5176C>G (p.Arg1726Gly) c.5044C>G (p.Arg1682Gly) c.5077C>G (p.Arg1693Gly) c.1468C>G n.3127C>G c.3899C>G c.5104C>G (p.Arg1702Gly) n.842C>G c.5047C>G (p.Arg1683Gly) c.5113C>G (p.Arg1705Gly) c.5038C>G (p.Arg1680Gly) n.2893C>G c.5170C>G (p.Arg1724Gly) c.5116C>G (p.Arg1706Gly) c.5131C>G (p.Arg1711Gly) c.5041C>G (p.Arg1681Gly) c.5166C>G n.3329C>G c.5239C>G (p.Arg1747Gly) n.4060C>G n.2497C>G n.2468C>G n.2358C>G c.4900C>G (p.Arg1634Gly) c.*4412C>G (n.*4412C>G) c.4936C>G (p.Arg1646Gly) n.2968C>G c.1427C>G n.2360C>G c.5299C>G (p.Arg1767Gly) c.5296C>G (p.Arg1766Gly) c.5188C>G (p.Arg1730Gly) c.5167C>G (p.Arg1723Gly) c.4513C>G (p.Arg1505Gly) c.5461C>G (p.Arg1821Gly) c.5209C>G (p.Arg1737Gly) c.3955C>G (p.Arg1319Gly) | dbSNP |
16 | g.2088311C>T | CA394314699 | TSC2 | c.*3594C>T (n.*3594C>T) c.5092C>T (p.Arg1698Trp) c.5242C>T (p.Arg1748Trp) c.*5758C>T (n.*5758C>T) c.*7994C>T (n.*7994C>T) c.5245C>T (p.Arg1749Trp) c.5176C>T (p.Arg1726Trp) c.5044C>T (p.Arg1682Trp) c.5077C>T (p.Arg1693Trp) c.1468C>T n.3127C>T c.3899C>T c.5104C>T (p.Arg1702Trp) n.842C>T c.5047C>T (p.Arg1683Trp) c.5113C>T (p.Arg1705Trp) c.5038C>T (p.Arg1680Trp) n.2893C>T c.5170C>T (p.Arg1724Trp) c.5116C>T (p.Arg1706Trp) c.5131C>T (p.Arg1711Trp) c.5041C>T (p.Arg1681Trp) c.5166C>T n.3329C>T c.5239C>T (p.Arg1747Trp) n.4060C>T n.2497C>T n.2468C>T n.2358C>T c.4900C>T (p.Arg1634Trp) c.*4412C>T (n.*4412C>T) c.4936C>T (p.Arg1646Trp) n.2968C>T c.1427C>T n.2360C>T c.5299C>T (p.Arg1767Trp) c.5296C>T (p.Arg1766Trp) c.5188C>T (p.Arg1730Trp) c.5167C>T (p.Arg1723Trp) c.4513C>T (p.Arg1505Trp) c.5461C>T (p.Arg1821Trp) c.5209C>T (p.Arg1737Trp) c.3955C>T (p.Arg1319Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088311_2088312delinsCG | CA2202032630 | TSC2 | c.*3594_*3595delinsCG (n.*3594_*3595delinsCG) c.5092_5093delinsCG (p.Arg1698=) c.5242_5243delinsCG (p.Arg1748=) c.*5758_*5759delinsCG (n.*5758_*5759delinsCG) c.*7994_*7995delinsCG (n.*7994_*7995delinsCG) c.5245_5246delinsCG (p.Arg1749=) c.5176_5177delinsCG (p.Arg1726=) c.5044_5045delinsCG (p.Arg1682=) c.5077_5078delinsCG (p.Arg1693=) c.1468_1469delinsCG n.3127_3128delinsCG c.3899_3900delinsCG c.5104_5105delinsCG (p.Arg1702=) n.842_843delinsCG c.5047_5048delinsCG (p.Arg1683=) c.5113_5114delinsCG (p.Arg1705=) c.5038_5039delinsCG (p.Arg1680=) n.2893_2894delinsCG c.5170_5171delinsCG (p.Arg1724=) c.5116_5117delinsCG (p.Arg1706=) c.5131_5132delinsCG (p.Arg1711=) c.5041_5042delinsCG (p.Arg1681=) c.5166_5167delinsCG n.3329_3330delinsCG c.5239_5240delinsCG (p.Arg1747=) n.4060_4061delinsCG n.2497_2498delinsCG n.2468_2469delinsCG n.2358_2359delinsCG c.4900_4901delinsCG (p.Arg1634=) c.*4412_*4413delinsCG (n.*4412_*4413delinsCG) c.4936_4937delinsCG (p.Arg1646=) n.2968_2969delinsCG c.1427_1428delinsCG n.2360_2361delinsCG c.5299_5300delinsCG (p.Arg1767=) c.5296_5297delinsCG (p.Arg1766=) c.5188_5189delinsCG (p.Arg1730=) c.5167_5168delinsCG (p.Arg1723=) c.4513_4514delinsCG (p.Arg1505=) c.5461_5462delinsCG (p.Arg1821=) c.5209_5210delinsCG (p.Arg1737=) c.3955_3956delinsCG (p.Arg1319=) | |
16 | g.2088311_2088338delinsCGGCTCCGCCAGCGGGTAGGGAATATGG | CA2202032635 | TSC2 | c.*3594_*3608+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5092_5106+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5242_5256+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.*5758_*5772+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.*7994_*8008+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5176_5190+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5044_5058+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5077_5091+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.1468_1482+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.3127_3141+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.3899_3913+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5104_5118+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.842_856+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5047_5061+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5113_5127+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5038_5052+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.2893_2907+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5170_5184+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5116_5130+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5131_5145+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5041_5055+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5166_5180+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.3329_3343+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5239_5253+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.4060_4074+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.2497_2511+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.2468_2482+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.2358_2372+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.4900_4914+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.*4412_*4426+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.4936_4950+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.2968_2982+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.1427_1441+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG n.2360_2374+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5299_5313+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5296_5310+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5188_5202+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5167_5181+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.4513_4527+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5461_5475+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.5209_5223+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG c.3955_3969+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG | |
16 | g.2088312G>A | CA394314713 | TSC2 | c.*3595G>A (n.*3595G>A) c.5093G>A (p.Arg1698Gln) c.5243G>A (p.Arg1748Gln) c.*5759G>A (n.*5759G>A) c.*7995G>A (n.*7995G>A) c.5246G>A (p.Arg1749Gln) c.5177G>A (p.Arg1726Gln) c.5045G>A (p.Arg1682Gln) c.5078G>A (p.Arg1693Gln) c.1469G>A n.3128G>A c.3900G>A c.5105G>A (p.Arg1702Gln) n.843G>A c.5048G>A (p.Arg1683Gln) c.5114G>A (p.Arg1705Gln) c.5039G>A (p.Arg1680Gln) n.2894G>A c.5171G>A (p.Arg1724Gln) c.5117G>A (p.Arg1706Gln) c.5132G>A (p.Arg1711Gln) c.5042G>A (p.Arg1681Gln) c.5167G>A n.3330G>A c.5240G>A (p.Arg1747Gln) n.4061G>A n.2498G>A n.2469G>A n.2359G>A c.4901G>A (p.Arg1634Gln) c.*4413G>A (n.*4413G>A) c.4937G>A (p.Arg1646Gln) n.2969G>A c.1428G>A n.2361G>A c.5300G>A (p.Arg1767Gln) c.5297G>A (p.Arg1766Gln) c.5189G>A (p.Arg1730Gln) c.5168G>A (p.Arg1723Gln) c.4514G>A (p.Arg1505Gln) c.5462G>A (p.Arg1821Gln) c.5210G>A (p.Arg1737Gln) c.3956G>A (p.Arg1319Gln) | ClinVar dbSNP gnomAD v4 |
16 | g.2088312G>C | CA394314711 | TSC2 | c.*3595G>C (n.*3595G>C) c.5093G>C (p.Arg1698Pro) c.5243G>C (p.Arg1748Pro) c.*5759G>C (n.*5759G>C) c.*7995G>C (n.*7995G>C) c.5246G>C (p.Arg1749Pro) c.5177G>C (p.Arg1726Pro) c.5045G>C (p.Arg1682Pro) c.5078G>C (p.Arg1693Pro) c.1469G>C n.3128G>C c.3900G>C c.5105G>C (p.Arg1702Pro) n.843G>C c.5048G>C (p.Arg1683Pro) c.5114G>C (p.Arg1705Pro) c.5039G>C (p.Arg1680Pro) n.2894G>C c.5171G>C (p.Arg1724Pro) c.5117G>C (p.Arg1706Pro) c.5132G>C (p.Arg1711Pro) c.5042G>C (p.Arg1681Pro) c.5167G>C n.3330G>C c.5240G>C (p.Arg1747Pro) n.4061G>C n.2498G>C n.2469G>C n.2359G>C c.4901G>C (p.Arg1634Pro) c.*4413G>C (n.*4413G>C) c.4937G>C (p.Arg1646Pro) n.2969G>C c.1428G>C n.2361G>C c.5300G>C (p.Arg1767Pro) c.5297G>C (p.Arg1766Pro) c.5189G>C (p.Arg1730Pro) c.5168G>C (p.Arg1723Pro) c.4514G>C (p.Arg1505Pro) c.5462G>C (p.Arg1821Pro) c.5210G>C (p.Arg1737Pro) c.3956G>C (p.Arg1319Pro) | ClinVar dbSNP |
16 | g.2088312G= | CA2202032644 | TSC2 | c.*3595G= (n.*3595G=) c.5093G= (p.Arg1698=) c.5243G= (p.Arg1748=) c.*5759G= (n.*5759G=) c.*7995G= (n.*7995G=) c.5246G= (p.Arg1749=) c.5177G= (p.Arg1726=) c.5045G= (p.Arg1682=) c.5078G= (p.Arg1693=) c.1469G= n.3128G= c.3900G= c.5105G= (p.Arg1702=) n.843G= c.5048G= (p.Arg1683=) c.5114G= (p.Arg1705=) c.5039G= (p.Arg1680=) n.2894G= c.5171G= (p.Arg1724=) c.5117G= (p.Arg1706=) c.5132G= (p.Arg1711=) c.5042G= (p.Arg1681=) c.5167G= n.3330G= c.5240G= (p.Arg1747=) n.4061G= n.2498G= n.2469G= n.2359G= c.4901G= (p.Arg1634=) c.*4413G= (n.*4413G=) c.4937G= (p.Arg1646=) n.2969G= c.1428G= n.2361G= c.5300G= (p.Arg1767=) c.5297G= (p.Arg1766=) c.5189G= (p.Arg1730=) c.5168G= (p.Arg1723=) c.4514G= (p.Arg1505=) c.5462G= (p.Arg1821=) c.5210G= (p.Arg1737=) c.3956G= (p.Arg1319=) | |
16 | g.2088312G>T | CA394314708 | TSC2 | c.*3595G>T (n.*3595G>T) c.5093G>T (p.Arg1698Leu) c.5243G>T (p.Arg1748Leu) c.*5759G>T (n.*5759G>T) c.*7995G>T (n.*7995G>T) c.5246G>T (p.Arg1749Leu) c.5177G>T (p.Arg1726Leu) c.5045G>T (p.Arg1682Leu) c.5078G>T (p.Arg1693Leu) c.1469G>T n.3128G>T c.3900G>T c.5105G>T (p.Arg1702Leu) n.843G>T c.5048G>T (p.Arg1683Leu) c.5114G>T (p.Arg1705Leu) c.5039G>T (p.Arg1680Leu) n.2894G>T c.5171G>T (p.Arg1724Leu) c.5117G>T (p.Arg1706Leu) c.5132G>T (p.Arg1711Leu) c.5042G>T (p.Arg1681Leu) c.5167G>T n.3330G>T c.5240G>T (p.Arg1747Leu) n.4061G>T n.2498G>T n.2469G>T n.2359G>T c.4901G>T (p.Arg1634Leu) c.*4413G>T (n.*4413G>T) c.4937G>T (p.Arg1646Leu) n.2969G>T c.1428G>T n.2361G>T c.5300G>T (p.Arg1767Leu) c.5297G>T (p.Arg1766Leu) c.5189G>T (p.Arg1730Leu) c.5168G>T (p.Arg1723Leu) c.4514G>T (p.Arg1505Leu) c.5462G>T (p.Arg1821Leu) c.5210G>T (p.Arg1737Leu) c.3956G>T (p.Arg1319Leu) | dbSNP |
16 | g.2088313dup | CA022280 | TSC2 | c.*3596dup (n.*3596dup) c.5094dup (p.Leu1699AlafsTer25) c.5244dup (p.Leu1749AlafsTer25) c.*5760dup (n.*5760dup) c.*7996dup (n.*7996dup) c.5247dup (p.Leu1750AlafsTer25) c.5178dup (p.Leu1727AlafsTer25) c.5046dup (p.Leu1683AlafsTer25) c.5079dup (p.Leu1694AlafsTer25) c.1470dup n.3129dup c.3901dup c.5106dup (p.Leu1703AlafsTer25) n.844dup c.5049dup (p.Leu1684AlafsTer25) c.5115dup (p.Leu1706AlafsTer25) c.5040dup (p.Leu1681AlafsTer25) n.2895dup c.5172dup (p.Leu1725AlafsTer25) c.5118dup (p.Leu1707AlafsTer25) c.5133dup (p.Leu1712AlafsTer25) c.5043dup (p.Leu1682AlafsTer25) c.5168dup n.3331dup c.5241dup (p.Leu1748AlafsTer25) n.4062dup n.2499dup n.2470dup n.2360dup c.4902dup (p.Leu1635AlafsTer25) c.*4414dup (n.*4414dup) c.4938dup (p.Leu1647AlafsTer25) n.2970dup c.1429dup n.2362dup c.5301dup (p.Leu1768AlafsTer25) c.5298dup (p.Leu1767AlafsTer25) c.5190dup (p.Leu1731AlafsTer25) c.5169dup (p.Leu1724AlafsTer25) c.4515dup (p.Leu1506AlafsTer25) c.5463dup (p.Leu1822AlafsTer25) c.5211dup (p.Leu1738AlafsTer25) c.3957dup (p.Leu1320AlafsTer25) | ClinVar dbSNP |
16 | g.2088313del | CA022286 | TSC2 | c.*3596del (n.*3596del) c.5094del (p.Leu1699SerfsTer?) c.5244del (p.Leu1749SerfsTer?) c.*5760del (n.*5760del) c.*7996del (n.*7996del) c.5247del (p.Leu1750SerfsTer?) c.5178del (p.Leu1727SerfsTer?) c.5046del (p.Leu1683SerfsTer?) c.5079del (p.Leu1694SerfsTer?) c.1470del n.3129del c.3901del c.5106del (p.Leu1703SerfsTer?) n.844del c.5049del (p.Leu1684SerfsTer?) c.5115del (p.Leu1706SerfsTer?) c.5040del (p.Leu1681SerfsTer?) n.2895del c.5172del (p.Leu1725SerfsTer?) c.5118del (p.Leu1707SerfsTer?) c.5133del (p.Leu1712SerfsTer?) c.5043del (p.Leu1682SerfsTer?) c.5168del n.3331del c.5241del (p.Leu1748SerfsTer?) n.4062del n.2499del n.2470del n.2360del c.4902del (p.Leu1635SerfsTer?) c.*4414del (n.*4414del) c.4938del (p.Leu1647SerfsTer?) n.2970del c.1429del n.2362del c.5301del (p.Leu1768SerfsTer?) c.5298del (p.Leu1767SerfsTer?) c.5190del (p.Leu1731SerfsTer?) c.5169del (p.Leu1724SerfsTer?) c.4515del (p.Leu1506SerfsTer?) c.5463del (p.Leu1822SerfsTer?) c.5211del (p.Leu1738SerfsTer?) c.3957del (p.Leu1320SerfsTer?) | ClinVar dbSNP |
16 | g.2088318_2088344dup | CA1139664254 | TSC2 | c.*3601_*3608+19dup c.5099_5106+19dup c.5249_5256+19dup c.*5765_*5772+19dup c.*8001_*8008+19dup c.5252_5259+19dup c.5183_5190+19dup c.5051_5058+19dup c.5084_5091+19dup c.1475_1482+19dup n.3134_3141+19dup c.3906_3913+19dup c.5111_5118+19dup n.849_856+19dup c.5054_5061+19dup c.5120_5127+19dup c.5045_5052+19dup n.2900_2907+19dup c.5177_5184+19dup c.5123_5130+19dup c.5138_5145+19dup c.5048_5055+19dup c.5173_5180+19dup n.3336_3343+19dup c.5246_5253+19dup n.4067_4074+19dup n.2504_2511+19dup n.2475_2482+19dup n.2365_2372+19dup c.4907_4914+19dup c.*4419_*4426+19dup c.4943_4950+19dup n.2975_2982+19dup c.1434_1441+19dup n.2367_2374+19dup c.5306_5313+19dup c.5303_5310+19dup c.5195_5202+19dup c.5174_5181+19dup c.4520_4527+19dup c.5468_5475+19dup c.5216_5223+19dup c.3962_3969+19dup | ClinVar dbSNP |
16 | g.2088318_2088344del | CA210060 | TSC2 | c.*3601_*3608+19del c.5099_5106+19del c.5249_5256+19del c.*5765_*5772+19del c.*8001_*8008+19del c.5252_5259+19del c.5183_5190+19del c.5051_5058+19del c.5084_5091+19del c.1475_1482+19del n.3134_3141+19del c.3906_3913+19del c.5111_5118+19del n.849_856+19del c.5054_5061+19del c.5120_5127+19del c.5045_5052+19del n.2900_2907+19del c.5177_5184+19del c.5123_5130+19del c.5138_5145+19del c.5048_5055+19del c.5173_5180+19del n.3336_3343+19del c.5246_5253+19del n.4067_4074+19del n.2504_2511+19del n.2475_2482+19del n.2365_2372+19del c.4907_4914+19del c.*4419_*4426+19del c.4943_4950+19del n.2975_2982+19del c.1434_1441+19del n.2367_2374+19del c.5306_5313+19del c.5303_5310+19del c.5195_5202+19del c.5174_5181+19del c.4520_4527+19del c.5468_5475+19del c.5216_5223+19del c.3962_3969+19del | ClinVar dbSNP |
16 | g.2088313G>A | CA493043856 | TSC2 | c.*3596G>A (n.*3596G>A) c.5094G>A (p.Arg1698=) c.5244G>A (p.Arg1748=) c.*5760G>A (n.*5760G>A) c.*7996G>A (n.*7996G>A) c.5247G>A (p.Arg1749=) c.5178G>A (p.Arg1726=) c.5046G>A (p.Arg1682=) c.5079G>A (p.Arg1693=) c.1470G>A n.3129G>A c.3901G>A c.5106G>A (p.Arg1702=) n.844G>A c.5049G>A (p.Arg1683=) c.5115G>A (p.Arg1705=) c.5040G>A (p.Arg1680=) n.2895G>A c.5172G>A (p.Arg1724=) c.5118G>A (p.Arg1706=) c.5133G>A (p.Arg1711=) c.5043G>A (p.Arg1681=) c.5168G>A n.3331G>A c.5241G>A (p.Arg1747=) n.4062G>A n.2499G>A n.2470G>A n.2360G>A c.4902G>A (p.Arg1634=) c.*4414G>A (n.*4414G>A) c.4938G>A (p.Arg1646=) n.2970G>A c.1429G>A n.2362G>A c.5301G>A (p.Arg1767=) c.5298G>A (p.Arg1766=) c.5190G>A (p.Arg1730=) c.5169G>A (p.Arg1723=) c.4515G>A (p.Arg1505=) c.5463G>A (p.Arg1821=) c.5211G>A (p.Arg1737=) c.3957G>A (p.Arg1319=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088313G>C | CA493043855 | TSC2 | c.*3596G>C (n.*3596G>C) c.5094G>C (p.Arg1698=) c.5244G>C (p.Arg1748=) c.*5760G>C (n.*5760G>C) c.*7996G>C (n.*7996G>C) c.5247G>C (p.Arg1749=) c.5178G>C (p.Arg1726=) c.5046G>C (p.Arg1682=) c.5079G>C (p.Arg1693=) c.1470G>C n.3129G>C c.3901G>C c.5106G>C (p.Arg1702=) n.844G>C c.5049G>C (p.Arg1683=) c.5115G>C (p.Arg1705=) c.5040G>C (p.Arg1680=) n.2895G>C c.5172G>C (p.Arg1724=) c.5118G>C (p.Arg1706=) c.5133G>C (p.Arg1711=) c.5043G>C (p.Arg1681=) c.5168G>C n.3331G>C c.5241G>C (p.Arg1747=) n.4062G>C n.2499G>C n.2470G>C n.2360G>C c.4902G>C (p.Arg1634=) c.*4414G>C (n.*4414G>C) c.4938G>C (p.Arg1646=) n.2970G>C c.1429G>C n.2362G>C c.5301G>C (p.Arg1767=) c.5298G>C (p.Arg1766=) c.5190G>C (p.Arg1730=) c.5169G>C (p.Arg1723=) c.4515G>C (p.Arg1505=) c.5463G>C (p.Arg1821=) c.5211G>C (p.Arg1737=) c.3957G>C (p.Arg1319=) | dbSNP |
16 | g.2088313G>T | CA493043857 | TSC2 | c.*3596G>T (n.*3596G>T) c.5094G>T (p.Arg1698=) c.5244G>T (p.Arg1748=) c.*5760G>T (n.*5760G>T) c.*7996G>T (n.*7996G>T) c.5247G>T (p.Arg1749=) c.5178G>T (p.Arg1726=) c.5046G>T (p.Arg1682=) c.5079G>T (p.Arg1693=) c.1470G>T n.3129G>T c.3901G>T c.5106G>T (p.Arg1702=) n.844G>T c.5049G>T (p.Arg1683=) c.5115G>T (p.Arg1705=) c.5040G>T (p.Arg1680=) n.2895G>T c.5172G>T (p.Arg1724=) c.5118G>T (p.Arg1706=) c.5133G>T (p.Arg1711=) c.5043G>T (p.Arg1681=) c.5168G>T n.3331G>T c.5241G>T (p.Arg1747=) n.4062G>T n.2499G>T n.2470G>T n.2360G>T c.4902G>T (p.Arg1634=) c.*4414G>T (n.*4414G>T) c.4938G>T (p.Arg1646=) n.2970G>T c.1429G>T n.2362G>T c.5301G>T (p.Arg1767=) c.5298G>T (p.Arg1766=) c.5190G>T (p.Arg1730=) c.5169G>T (p.Arg1723=) c.4515G>T (p.Arg1505=) c.5463G>T (p.Arg1821=) c.5211G>T (p.Arg1737=) c.3957G>T (p.Arg1319=) | |
16 | g.2088314C>A | CA394314719 | TSC2 | c.*3597C>A (n.*3597C>A) c.5095C>A (p.Leu1699Ile) c.5245C>A (p.Leu1749Ile) c.*5761C>A (n.*5761C>A) c.*7997C>A (n.*7997C>A) c.5248C>A (p.Leu1750Ile) c.5179C>A (p.Leu1727Ile) c.5047C>A (p.Leu1683Ile) c.5080C>A (p.Leu1694Ile) c.1471C>A n.3130C>A c.3902C>A c.5107C>A (p.Leu1703Ile) n.845C>A c.5050C>A (p.Leu1684Ile) c.5116C>A (p.Leu1706Ile) c.5041C>A (p.Leu1681Ile) n.2896C>A c.5173C>A (p.Leu1725Ile) c.5119C>A (p.Leu1707Ile) c.5134C>A (p.Leu1712Ile) c.5044C>A (p.Leu1682Ile) c.5169C>A n.3332C>A c.5242C>A (p.Leu1748Ile) n.4063C>A n.2500C>A n.2471C>A n.2361C>A c.4903C>A (p.Leu1635Ile) c.*4415C>A (n.*4415C>A) c.4939C>A (p.Leu1647Ile) n.2971C>A c.1430C>A n.2363C>A c.5302C>A (p.Leu1768Ile) c.5299C>A (p.Leu1767Ile) c.5191C>A (p.Leu1731Ile) c.5170C>A (p.Leu1724Ile) c.4516C>A (p.Leu1506Ile) c.5464C>A (p.Leu1822Ile) c.5212C>A (p.Leu1738Ile) c.3958C>A (p.Leu1320Ile) | |
16 | g.2088314C= | CA2202032654 | TSC2 | c.*3597C= (n.*3597C=) c.5095C= (p.Leu1699=) c.5245C= (p.Leu1749=) c.*5761C= (n.*5761C=) c.*7997C= (n.*7997C=) c.5248C= (p.Leu1750=) c.5179C= (p.Leu1727=) c.5047C= (p.Leu1683=) c.5080C= (p.Leu1694=) c.1471C= n.3130C= c.3902C= c.5107C= (p.Leu1703=) n.845C= c.5050C= (p.Leu1684=) c.5116C= (p.Leu1706=) c.5041C= (p.Leu1681=) n.2896C= c.5173C= (p.Leu1725=) c.5119C= (p.Leu1707=) c.5134C= (p.Leu1712=) c.5044C= (p.Leu1682=) c.5169C= n.3332C= c.5242C= (p.Leu1748=) n.4063C= n.2500C= n.2471C= n.2361C= c.4903C= (p.Leu1635=) c.*4415C= (n.*4415C=) c.4939C= (p.Leu1647=) n.2971C= c.1430C= n.2363C= c.5302C= (p.Leu1768=) c.5299C= (p.Leu1767=) c.5191C= (p.Leu1731=) c.5170C= (p.Leu1724=) c.4516C= (p.Leu1506=) c.5464C= (p.Leu1822=) c.5212C= (p.Leu1738=) c.3958C= (p.Leu1320=) | |
16 | g.2088314C>G | CA394314722 | TSC2 | c.*3597C>G (n.*3597C>G) c.5095C>G (p.Leu1699Val) c.5245C>G (p.Leu1749Val) c.*5761C>G (n.*5761C>G) c.*7997C>G (n.*7997C>G) c.5248C>G (p.Leu1750Val) c.5179C>G (p.Leu1727Val) c.5047C>G (p.Leu1683Val) c.5080C>G (p.Leu1694Val) c.1471C>G n.3130C>G c.3902C>G c.5107C>G (p.Leu1703Val) n.845C>G c.5050C>G (p.Leu1684Val) c.5116C>G (p.Leu1706Val) c.5041C>G (p.Leu1681Val) n.2896C>G c.5173C>G (p.Leu1725Val) c.5119C>G (p.Leu1707Val) c.5134C>G (p.Leu1712Val) c.5044C>G (p.Leu1682Val) c.5169C>G n.3332C>G c.5242C>G (p.Leu1748Val) n.4063C>G n.2500C>G n.2471C>G n.2361C>G c.4903C>G (p.Leu1635Val) c.*4415C>G (n.*4415C>G) c.4939C>G (p.Leu1647Val) n.2971C>G c.1430C>G n.2363C>G c.5302C>G (p.Leu1768Val) c.5299C>G (p.Leu1767Val) c.5191C>G (p.Leu1731Val) c.5170C>G (p.Leu1724Val) c.4516C>G (p.Leu1506Val) c.5464C>G (p.Leu1822Val) c.5212C>G (p.Leu1738Val) c.3958C>G (p.Leu1320Val) | dbSNP |
16 | g.2088314C>T | CA022293 | TSC2 | c.*3597C>T (n.*3597C>T) c.5095C>T (p.Leu1699Phe) c.5245C>T (p.Leu1749Phe) c.*5761C>T (n.*5761C>T) c.*7997C>T (n.*7997C>T) c.5248C>T (p.Leu1750Phe) c.5179C>T (p.Leu1727Phe) c.5047C>T (p.Leu1683Phe) c.5080C>T (p.Leu1694Phe) c.1471C>T n.3130C>T c.3902C>T c.5107C>T (p.Leu1703Phe) n.845C>T c.5050C>T (p.Leu1684Phe) c.5116C>T (p.Leu1706Phe) c.5041C>T (p.Leu1681Phe) n.2896C>T c.5173C>T (p.Leu1725Phe) c.5119C>T (p.Leu1707Phe) c.5134C>T (p.Leu1712Phe) c.5044C>T (p.Leu1682Phe) c.5169C>T n.3332C>T c.5242C>T (p.Leu1748Phe) n.4063C>T n.2500C>T n.2471C>T n.2361C>T c.4903C>T (p.Leu1635Phe) c.*4415C>T (n.*4415C>T) c.4939C>T (p.Leu1647Phe) n.2971C>T c.1430C>T n.2363C>T c.5302C>T (p.Leu1768Phe) c.5299C>T (p.Leu1767Phe) c.5191C>T (p.Leu1731Phe) c.5170C>T (p.Leu1724Phe) c.4516C>T (p.Leu1506Phe) c.5464C>T (p.Leu1822Phe) c.5212C>T (p.Leu1738Phe) c.3958C>T (p.Leu1320Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088315T>A | CA394314729 | TSC2 | c.*3598T>A (n.*3598T>A) c.5096T>A (p.Leu1699His) c.5246T>A (p.Leu1749His) c.*5762T>A (n.*5762T>A) c.*7998T>A (n.*7998T>A) c.5249T>A (p.Leu1750His) c.5180T>A (p.Leu1727His) c.5048T>A (p.Leu1683His) c.5081T>A (p.Leu1694His) c.1472T>A n.3131T>A c.3903T>A c.5108T>A (p.Leu1703His) n.846T>A c.5051T>A (p.Leu1684His) c.5117T>A (p.Leu1706His) c.5042T>A (p.Leu1681His) n.2897T>A c.5174T>A (p.Leu1725His) c.5120T>A (p.Leu1707His) c.5135T>A (p.Leu1712His) c.5045T>A (p.Leu1682His) c.5170T>A n.3333T>A c.5243T>A (p.Leu1748His) n.4064T>A n.2501T>A n.2472T>A n.2362T>A c.4904T>A (p.Leu1635His) c.*4416T>A (n.*4416T>A) c.4940T>A (p.Leu1647His) n.2972T>A c.1431T>A n.2364T>A c.5303T>A (p.Leu1768His) c.5300T>A (p.Leu1767His) c.5192T>A (p.Leu1731His) c.5171T>A (p.Leu1724His) c.4517T>A (p.Leu1506His) c.5465T>A (p.Leu1822His) c.5213T>A (p.Leu1738His) c.3959T>A (p.Leu1320His) | dbSNP |
16 | g.2088315T>C | CA022298 | TSC2 | c.*3598T>C (n.*3598T>C) c.5096T>C (p.Leu1699Pro) c.5246T>C (p.Leu1749Pro) c.*5762T>C (n.*5762T>C) c.*7998T>C (n.*7998T>C) c.5249T>C (p.Leu1750Pro) c.5180T>C (p.Leu1727Pro) c.5048T>C (p.Leu1683Pro) c.5081T>C (p.Leu1694Pro) c.1472T>C n.3131T>C c.3903T>C c.5108T>C (p.Leu1703Pro) n.846T>C c.5051T>C (p.Leu1684Pro) c.5117T>C (p.Leu1706Pro) c.5042T>C (p.Leu1681Pro) n.2897T>C c.5174T>C (p.Leu1725Pro) c.5120T>C (p.Leu1707Pro) c.5135T>C (p.Leu1712Pro) c.5045T>C (p.Leu1682Pro) c.5170T>C n.3333T>C c.5243T>C (p.Leu1748Pro) n.4064T>C n.2501T>C n.2472T>C n.2362T>C c.4904T>C (p.Leu1635Pro) c.*4416T>C (n.*4416T>C) c.4940T>C (p.Leu1647Pro) n.2972T>C c.1431T>C n.2364T>C c.5303T>C (p.Leu1768Pro) c.5300T>C (p.Leu1767Pro) c.5192T>C (p.Leu1731Pro) c.5171T>C (p.Leu1724Pro) c.4517T>C (p.Leu1506Pro) c.5465T>C (p.Leu1822Pro) c.5213T>C (p.Leu1738Pro) c.3959T>C (p.Leu1320Pro) | ClinVar dbSNP |
16 | g.2088315T>G | CA394314733 | TSC2 | c.*3598T>G (n.*3598T>G) c.5096T>G (p.Leu1699Arg) c.5246T>G (p.Leu1749Arg) c.*5762T>G (n.*5762T>G) c.*7998T>G (n.*7998T>G) c.5249T>G (p.Leu1750Arg) c.5180T>G (p.Leu1727Arg) c.5048T>G (p.Leu1683Arg) c.5081T>G (p.Leu1694Arg) c.1472T>G n.3131T>G c.3903T>G c.5108T>G (p.Leu1703Arg) n.846T>G c.5051T>G (p.Leu1684Arg) c.5117T>G (p.Leu1706Arg) c.5042T>G (p.Leu1681Arg) n.2897T>G c.5174T>G (p.Leu1725Arg) c.5120T>G (p.Leu1707Arg) c.5135T>G (p.Leu1712Arg) c.5045T>G (p.Leu1682Arg) c.5170T>G n.3333T>G c.5243T>G (p.Leu1748Arg) n.4064T>G n.2501T>G n.2472T>G n.2362T>G c.4904T>G (p.Leu1635Arg) c.*4416T>G (n.*4416T>G) c.4940T>G (p.Leu1647Arg) n.2972T>G c.1431T>G n.2364T>G c.5303T>G (p.Leu1768Arg) c.5300T>G (p.Leu1767Arg) c.5192T>G (p.Leu1731Arg) c.5171T>G (p.Leu1724Arg) c.4517T>G (p.Leu1506Arg) c.5465T>G (p.Leu1822Arg) c.5213T>G (p.Leu1738Arg) c.3959T>G (p.Leu1320Arg) | |
16 | g.2088315T= | CA2202032659 | TSC2 | c.*3598T= (n.*3598T=) c.5096T= (p.Leu1699=) c.5246T= (p.Leu1749=) c.*5762T= (n.*5762T=) c.*7998T= (n.*7998T=) c.5249T= (p.Leu1750=) c.5180T= (p.Leu1727=) c.5048T= (p.Leu1683=) c.5081T= (p.Leu1694=) c.1472T= n.3131T= c.3903T= c.5108T= (p.Leu1703=) n.846T= c.5051T= (p.Leu1684=) c.5117T= (p.Leu1706=) c.5042T= (p.Leu1681=) n.2897T= c.5174T= (p.Leu1725=) c.5120T= (p.Leu1707=) c.5135T= (p.Leu1712=) c.5045T= (p.Leu1682=) c.5170T= n.3333T= c.5243T= (p.Leu1748=) n.4064T= n.2501T= n.2472T= n.2362T= c.4904T= (p.Leu1635=) c.*4416T= (n.*4416T=) c.4940T= (p.Leu1647=) n.2972T= c.1431T= n.2364T= c.5303T= (p.Leu1768=) c.5300T= (p.Leu1767=) c.5192T= (p.Leu1731=) c.5171T= (p.Leu1724=) c.4517T= (p.Leu1506=) c.5465T= (p.Leu1822=) c.5213T= (p.Leu1738=) c.3959T= (p.Leu1320=) | |
16 | g.2088316C>A | CA054561 | TSC2 | c.*3599C>A (n.*3599C>A) c.5097C>A (p.Leu1699=) c.5247C>A (p.Leu1749=) c.*5763C>A (n.*5763C>A) c.*7999C>A (n.*7999C>A) c.5250C>A (p.Leu1750=) c.5181C>A (p.Leu1727=) c.5049C>A (p.Leu1683=) c.5082C>A (p.Leu1694=) c.1473C>A n.3132C>A c.3904C>A c.5109C>A (p.Leu1703=) n.847C>A c.5052C>A (p.Leu1684=) c.5118C>A (p.Leu1706=) c.5043C>A (p.Leu1681=) n.2898C>A c.5175C>A (p.Leu1725=) c.5121C>A (p.Leu1707=) c.5136C>A (p.Leu1712=) c.5046C>A (p.Leu1682=) c.5171C>A n.3334C>A c.5244C>A (p.Leu1748=) n.4065C>A n.2502C>A n.2473C>A n.2363C>A c.4905C>A (p.Leu1635=) c.*4417C>A (n.*4417C>A) c.4941C>A (p.Leu1647=) n.2973C>A c.1432C>A n.2365C>A c.5304C>A (p.Leu1768=) c.5301C>A (p.Leu1767=) c.5193C>A (p.Leu1731=) c.5172C>A (p.Leu1724=) c.4518C>A (p.Leu1506=) c.5466C>A (p.Leu1822=) c.5214C>A (p.Leu1738=) c.3960C>A (p.Leu1320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088316C= | CA2202032661 | TSC2 | c.*3599C= (n.*3599C=) c.5097C= (p.Leu1699=) c.5247C= (p.Leu1749=) c.*5763C= (n.*5763C=) c.*7999C= (n.*7999C=) c.5250C= (p.Leu1750=) c.5181C= (p.Leu1727=) c.5049C= (p.Leu1683=) c.5082C= (p.Leu1694=) c.1473C= n.3132C= c.3904C= c.5109C= (p.Leu1703=) n.847C= c.5052C= (p.Leu1684=) c.5118C= (p.Leu1706=) c.5043C= (p.Leu1681=) n.2898C= c.5175C= (p.Leu1725=) c.5121C= (p.Leu1707=) c.5136C= (p.Leu1712=) c.5046C= (p.Leu1682=) c.5171C= n.3334C= c.5244C= (p.Leu1748=) n.4065C= n.2502C= n.2473C= n.2363C= c.4905C= (p.Leu1635=) c.*4417C= (n.*4417C=) c.4941C= (p.Leu1647=) n.2973C= c.1432C= n.2365C= c.5304C= (p.Leu1768=) c.5301C= (p.Leu1767=) c.5193C= (p.Leu1731=) c.5172C= (p.Leu1724=) c.4518C= (p.Leu1506=) c.5466C= (p.Leu1822=) c.5214C= (p.Leu1738=) c.3960C= (p.Leu1320=) | |
16 | g.2088316C>G | CA054566 | TSC2 | c.*3599C>G (n.*3599C>G) c.5097C>G (p.Leu1699=) c.5247C>G (p.Leu1749=) c.*5763C>G (n.*5763C>G) c.*7999C>G (n.*7999C>G) c.5250C>G (p.Leu1750=) c.5181C>G (p.Leu1727=) c.5049C>G (p.Leu1683=) c.5082C>G (p.Leu1694=) c.1473C>G n.3132C>G c.3904C>G c.5109C>G (p.Leu1703=) n.847C>G c.5052C>G (p.Leu1684=) c.5118C>G (p.Leu1706=) c.5043C>G (p.Leu1681=) n.2898C>G c.5175C>G (p.Leu1725=) c.5121C>G (p.Leu1707=) c.5136C>G (p.Leu1712=) c.5046C>G (p.Leu1682=) c.5171C>G n.3334C>G c.5244C>G (p.Leu1748=) n.4065C>G n.2502C>G n.2473C>G n.2363C>G c.4905C>G (p.Leu1635=) c.*4417C>G (n.*4417C>G) c.4941C>G (p.Leu1647=) n.2973C>G c.1432C>G n.2365C>G c.5304C>G (p.Leu1768=) c.5301C>G (p.Leu1767=) c.5193C>G (p.Leu1731=) c.5172C>G (p.Leu1724=) c.4518C>G (p.Leu1506=) c.5466C>G (p.Leu1822=) c.5214C>G (p.Leu1738=) c.3960C>G (p.Leu1320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088316C>T | CA276759574 | TSC2 | c.*3599C>T (n.*3599C>T) c.5097C>T (p.Leu1699=) c.5247C>T (p.Leu1749=) c.*5763C>T (n.*5763C>T) c.*7999C>T (n.*7999C>T) c.5250C>T (p.Leu1750=) c.5181C>T (p.Leu1727=) c.5049C>T (p.Leu1683=) c.5082C>T (p.Leu1694=) c.1473C>T n.3132C>T c.3904C>T c.5109C>T (p.Leu1703=) n.847C>T c.5052C>T (p.Leu1684=) c.5118C>T (p.Leu1706=) c.5043C>T (p.Leu1681=) n.2898C>T c.5175C>T (p.Leu1725=) c.5121C>T (p.Leu1707=) c.5136C>T (p.Leu1712=) c.5046C>T (p.Leu1682=) c.5171C>T n.3334C>T c.5244C>T (p.Leu1748=) n.4065C>T n.2502C>T n.2473C>T n.2363C>T c.4905C>T (p.Leu1635=) c.*4417C>T (n.*4417C>T) c.4941C>T (p.Leu1647=) n.2973C>T c.1432C>T n.2365C>T c.5304C>T (p.Leu1768=) c.5301C>T (p.Leu1767=) c.5193C>T (p.Leu1731=) c.5172C>T (p.Leu1724=) c.4518C>T (p.Leu1506=) c.5466C>T (p.Leu1822=) c.5214C>T (p.Leu1738=) c.3960C>T (p.Leu1320=) | ClinVar dbSNP |
16 | g.2088317C>A | CA394314746 | TSC2 | c.*3600C>A (n.*3600C>A) c.5098C>A (p.Arg1700Ser) c.5248C>A (p.Arg1750Ser) c.*5764C>A (n.*5764C>A) c.*8000C>A (n.*8000C>A) c.5251C>A (p.Arg1751Ser) c.5182C>A (p.Arg1728Ser) c.5050C>A (p.Arg1684Ser) c.5083C>A (p.Arg1695Ser) c.1474C>A n.3133C>A c.3905C>A c.5110C>A (p.Arg1704Ser) n.848C>A c.5053C>A (p.Arg1685Ser) c.5119C>A (p.Arg1707Ser) c.5044C>A (p.Arg1682Ser) n.2899C>A c.5176C>A (p.Arg1726Ser) c.5122C>A (p.Arg1708Ser) c.5137C>A (p.Arg1713Ser) c.5047C>A (p.Arg1683Ser) c.5172C>A n.3335C>A c.5245C>A (p.Arg1749Ser) n.4066C>A n.2503C>A n.2474C>A n.2364C>A c.4906C>A (p.Arg1636Ser) c.*4418C>A (n.*4418C>A) c.4942C>A (p.Arg1648Ser) n.2974C>A c.1433C>A n.2366C>A c.5305C>A (p.Arg1769Ser) c.5302C>A (p.Arg1768Ser) c.5194C>A (p.Arg1732Ser) c.5173C>A (p.Arg1725Ser) c.4519C>A (p.Arg1507Ser) c.5467C>A (p.Arg1823Ser) c.5215C>A (p.Arg1739Ser) c.3961C>A (p.Arg1321Ser) | |
16 | g.2088317C= | CA2202032669 | TSC2 | c.*3600C= (n.*3600C=) c.5098C= (p.Arg1700=) c.5248C= (p.Arg1750=) c.*5764C= (n.*5764C=) c.*8000C= (n.*8000C=) c.5251C= (p.Arg1751=) c.5182C= (p.Arg1728=) c.5050C= (p.Arg1684=) c.5083C= (p.Arg1695=) c.1474C= n.3133C= c.3905C= c.5110C= (p.Arg1704=) n.848C= c.5053C= (p.Arg1685=) c.5119C= (p.Arg1707=) c.5044C= (p.Arg1682=) n.2899C= c.5176C= (p.Arg1726=) c.5122C= (p.Arg1708=) c.5137C= (p.Arg1713=) c.5047C= (p.Arg1683=) c.5172C= n.3335C= c.5245C= (p.Arg1749=) n.4066C= n.2503C= n.2474C= n.2364C= c.4906C= (p.Arg1636=) c.*4418C= (n.*4418C=) c.4942C= (p.Arg1648=) n.2974C= c.1433C= n.2366C= c.5305C= (p.Arg1769=) c.5302C= (p.Arg1768=) c.5194C= (p.Arg1732=) c.5173C= (p.Arg1725=) c.4519C= (p.Arg1507=) c.5467C= (p.Arg1823=) c.5215C= (p.Arg1739=) c.3961C= (p.Arg1321=) | |
16 | g.2088317C>G | CA394314749 | TSC2 | c.*3600C>G (n.*3600C>G) c.5098C>G (p.Arg1700Gly) c.5248C>G (p.Arg1750Gly) c.*5764C>G (n.*5764C>G) c.*8000C>G (n.*8000C>G) c.5251C>G (p.Arg1751Gly) c.5182C>G (p.Arg1728Gly) c.5050C>G (p.Arg1684Gly) c.5083C>G (p.Arg1695Gly) c.1474C>G n.3133C>G c.3905C>G c.5110C>G (p.Arg1704Gly) n.848C>G c.5053C>G (p.Arg1685Gly) c.5119C>G (p.Arg1707Gly) c.5044C>G (p.Arg1682Gly) n.2899C>G c.5176C>G (p.Arg1726Gly) c.5122C>G (p.Arg1708Gly) c.5137C>G (p.Arg1713Gly) c.5047C>G (p.Arg1683Gly) c.5172C>G n.3335C>G c.5245C>G (p.Arg1749Gly) n.4066C>G n.2503C>G n.2474C>G n.2364C>G c.4906C>G (p.Arg1636Gly) c.*4418C>G (n.*4418C>G) c.4942C>G (p.Arg1648Gly) n.2974C>G c.1433C>G n.2366C>G c.5305C>G (p.Arg1769Gly) c.5302C>G (p.Arg1768Gly) c.5194C>G (p.Arg1732Gly) c.5173C>G (p.Arg1725Gly) c.4519C>G (p.Arg1507Gly) c.5467C>G (p.Arg1823Gly) c.5215C>G (p.Arg1739Gly) c.3961C>G (p.Arg1321Gly) | dbSNP |
16 | g.2088317C>T | CA054573 | TSC2 | c.*3600C>T (n.*3600C>T) c.5098C>T (p.Arg1700Cys) c.5248C>T (p.Arg1750Cys) c.*5764C>T (n.*5764C>T) c.*8000C>T (n.*8000C>T) c.5251C>T (p.Arg1751Cys) c.5182C>T (p.Arg1728Cys) c.5050C>T (p.Arg1684Cys) c.5083C>T (p.Arg1695Cys) c.1474C>T n.3133C>T c.3905C>T c.5110C>T (p.Arg1704Cys) n.848C>T c.5053C>T (p.Arg1685Cys) c.5119C>T (p.Arg1707Cys) c.5044C>T (p.Arg1682Cys) n.2899C>T c.5176C>T (p.Arg1726Cys) c.5122C>T (p.Arg1708Cys) c.5137C>T (p.Arg1713Cys) c.5047C>T (p.Arg1683Cys) c.5172C>T n.3335C>T c.5245C>T (p.Arg1749Cys) n.4066C>T n.2503C>T n.2474C>T n.2364C>T c.4906C>T (p.Arg1636Cys) c.*4418C>T (n.*4418C>T) c.4942C>T (p.Arg1648Cys) n.2974C>T c.1433C>T n.2366C>T c.5305C>T (p.Arg1769Cys) c.5302C>T (p.Arg1768Cys) c.5194C>T (p.Arg1732Cys) c.5173C>T (p.Arg1725Cys) c.4519C>T (p.Arg1507Cys) c.5467C>T (p.Arg1823Cys) c.5215C>T (p.Arg1739Cys) c.3961C>T (p.Arg1321Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088318G>A | CA054581 | TSC2 | c.*3601G>A (n.*3601G>A) c.5099G>A (p.Arg1700His) c.5249G>A (p.Arg1750His) c.*5765G>A (n.*5765G>A) c.*8001G>A (n.*8001G>A) c.5252G>A (p.Arg1751His) c.5183G>A (p.Arg1728His) c.5051G>A (p.Arg1684His) c.5084G>A (p.Arg1695His) c.1475G>A n.3134G>A c.3906G>A c.5111G>A (p.Arg1704His) n.849G>A c.5054G>A (p.Arg1685His) c.5120G>A (p.Arg1707His) c.5045G>A (p.Arg1682His) n.2900G>A c.5177G>A (p.Arg1726His) c.5123G>A (p.Arg1708His) c.5138G>A (p.Arg1713His) c.5048G>A (p.Arg1683His) c.5173G>A n.3336G>A c.5246G>A (p.Arg1749His) n.4067G>A n.2504G>A n.2475G>A n.2365G>A c.4907G>A (p.Arg1636His) c.*4419G>A (n.*4419G>A) c.4943G>A (p.Arg1648His) n.2975G>A c.1434G>A n.2367G>A c.5306G>A (p.Arg1769His) c.5303G>A (p.Arg1768His) c.5195G>A (p.Arg1732His) c.5174G>A (p.Arg1725His) c.4520G>A (p.Arg1507His) c.5468G>A (p.Arg1823His) c.5216G>A (p.Arg1739His) c.3962G>A (p.Arg1321His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088318G>C | CA394314761 | TSC2 | c.*3601G>C (n.*3601G>C) c.5099G>C (p.Arg1700Pro) c.5249G>C (p.Arg1750Pro) c.*5765G>C (n.*5765G>C) c.*8001G>C (n.*8001G>C) c.5252G>C (p.Arg1751Pro) c.5183G>C (p.Arg1728Pro) c.5051G>C (p.Arg1684Pro) c.5084G>C (p.Arg1695Pro) c.1475G>C n.3134G>C c.3906G>C c.5111G>C (p.Arg1704Pro) n.849G>C c.5054G>C (p.Arg1685Pro) c.5120G>C (p.Arg1707Pro) c.5045G>C (p.Arg1682Pro) n.2900G>C c.5177G>C (p.Arg1726Pro) c.5123G>C (p.Arg1708Pro) c.5138G>C (p.Arg1713Pro) c.5048G>C (p.Arg1683Pro) c.5173G>C n.3336G>C c.5246G>C (p.Arg1749Pro) n.4067G>C n.2504G>C n.2475G>C n.2365G>C c.4907G>C (p.Arg1636Pro) c.*4419G>C (n.*4419G>C) c.4943G>C (p.Arg1648Pro) n.2975G>C c.1434G>C n.2367G>C c.5306G>C (p.Arg1769Pro) c.5303G>C (p.Arg1768Pro) c.5195G>C (p.Arg1732Pro) c.5174G>C (p.Arg1725Pro) c.4520G>C (p.Arg1507Pro) c.5468G>C (p.Arg1823Pro) c.5216G>C (p.Arg1739Pro) c.3962G>C (p.Arg1321Pro) | ClinVar dbSNP |
16 | g.2088318G= | CA2202032677 | TSC2 | c.*3601G= (n.*3601G=) c.5099G= (p.Arg1700=) c.5249G= (p.Arg1750=) c.*5765G= (n.*5765G=) c.*8001G= (n.*8001G=) c.5252G= (p.Arg1751=) c.5183G= (p.Arg1728=) c.5051G= (p.Arg1684=) c.5084G= (p.Arg1695=) c.1475G= n.3134G= c.3906G= c.5111G= (p.Arg1704=) n.849G= c.5054G= (p.Arg1685=) c.5120G= (p.Arg1707=) c.5045G= (p.Arg1682=) n.2900G= c.5177G= (p.Arg1726=) c.5123G= (p.Arg1708=) c.5138G= (p.Arg1713=) c.5048G= (p.Arg1683=) c.5173G= n.3336G= c.5246G= (p.Arg1749=) n.4067G= n.2504G= n.2475G= n.2365G= c.4907G= (p.Arg1636=) c.*4419G= (n.*4419G=) c.4943G= (p.Arg1648=) n.2975G= c.1434G= n.2367G= c.5306G= (p.Arg1769=) c.5303G= (p.Arg1768=) c.5195G= (p.Arg1732=) c.5174G= (p.Arg1725=) c.4520G= (p.Arg1507=) c.5468G= (p.Arg1823=) c.5216G= (p.Arg1739=) c.3962G= (p.Arg1321=) | |
16 | g.2088318G>T | CA394314762 | TSC2 | c.*3601G>T (n.*3601G>T) c.5099G>T (p.Arg1700Leu) c.5249G>T (p.Arg1750Leu) c.*5765G>T (n.*5765G>T) c.*8001G>T (n.*8001G>T) c.5252G>T (p.Arg1751Leu) c.5183G>T (p.Arg1728Leu) c.5051G>T (p.Arg1684Leu) c.5084G>T (p.Arg1695Leu) c.1475G>T n.3134G>T c.3906G>T c.5111G>T (p.Arg1704Leu) n.849G>T c.5054G>T (p.Arg1685Leu) c.5120G>T (p.Arg1707Leu) c.5045G>T (p.Arg1682Leu) n.2900G>T c.5177G>T (p.Arg1726Leu) c.5123G>T (p.Arg1708Leu) c.5138G>T (p.Arg1713Leu) c.5048G>T (p.Arg1683Leu) c.5173G>T n.3336G>T c.5246G>T (p.Arg1749Leu) n.4067G>T n.2504G>T n.2475G>T n.2365G>T c.4907G>T (p.Arg1636Leu) c.*4419G>T (n.*4419G>T) c.4943G>T (p.Arg1648Leu) n.2975G>T c.1434G>T n.2367G>T c.5306G>T (p.Arg1769Leu) c.5303G>T (p.Arg1768Leu) c.5195G>T (p.Arg1732Leu) c.5174G>T (p.Arg1725Leu) c.4520G>T (p.Arg1507Leu) c.5468G>T (p.Arg1823Leu) c.5216G>T (p.Arg1739Leu) c.3962G>T (p.Arg1321Leu) | dbSNP |
16 | g.2088319C>A | CA493043861 | TSC2 | c.*3602C>A (n.*3602C>A) c.5100C>A (p.Arg1700=) c.5250C>A (p.Arg1750=) c.*5766C>A (n.*5766C>A) c.*8002C>A (n.*8002C>A) c.5253C>A (p.Arg1751=) c.5184C>A (p.Arg1728=) c.5052C>A (p.Arg1684=) c.5085C>A (p.Arg1695=) c.1476C>A n.3135C>A c.3907C>A c.5112C>A (p.Arg1704=) n.850C>A c.5055C>A (p.Arg1685=) c.5121C>A (p.Arg1707=) c.5046C>A (p.Arg1682=) n.2901C>A c.5178C>A (p.Arg1726=) c.5124C>A (p.Arg1708=) c.5139C>A (p.Arg1713=) c.5049C>A (p.Arg1683=) c.5174C>A n.3337C>A c.5247C>A (p.Arg1749=) n.4068C>A n.2505C>A n.2476C>A n.2366C>A c.4908C>A (p.Arg1636=) c.*4420C>A (n.*4420C>A) c.4944C>A (p.Arg1648=) n.2976C>A c.1435C>A n.2368C>A c.5307C>A (p.Arg1769=) c.5304C>A (p.Arg1768=) c.5196C>A (p.Arg1732=) c.5175C>A (p.Arg1725=) c.4521C>A (p.Arg1507=) c.5469C>A (p.Arg1823=) c.5217C>A (p.Arg1739=) c.3963C>A (p.Arg1321=) | dbSNP |
16 | g.2088319C= | CA2202032686 | TSC2 | c.*3602C= (n.*3602C=) c.5100C= (p.Arg1700=) c.5250C= (p.Arg1750=) c.*5766C= (n.*5766C=) c.*8002C= (n.*8002C=) c.5253C= (p.Arg1751=) c.5184C= (p.Arg1728=) c.5052C= (p.Arg1684=) c.5085C= (p.Arg1695=) c.1476C= n.3135C= c.3907C= c.5112C= (p.Arg1704=) n.850C= c.5055C= (p.Arg1685=) c.5121C= (p.Arg1707=) c.5046C= (p.Arg1682=) n.2901C= c.5178C= (p.Arg1726=) c.5124C= (p.Arg1708=) c.5139C= (p.Arg1713=) c.5049C= (p.Arg1683=) c.5174C= n.3337C= c.5247C= (p.Arg1749=) n.4068C= n.2505C= n.2476C= n.2366C= c.4908C= (p.Arg1636=) c.*4420C= (n.*4420C=) c.4944C= (p.Arg1648=) n.2976C= c.1435C= n.2368C= c.5307C= (p.Arg1769=) c.5304C= (p.Arg1768=) c.5196C= (p.Arg1732=) c.5175C= (p.Arg1725=) c.4521C= (p.Arg1507=) c.5469C= (p.Arg1823=) c.5217C= (p.Arg1739=) c.3963C= (p.Arg1321=) | |
16 | g.2088319C>G | CA493043862 | TSC2 | c.*3602C>G (n.*3602C>G) c.5100C>G (p.Arg1700=) c.5250C>G (p.Arg1750=) c.*5766C>G (n.*5766C>G) c.*8002C>G (n.*8002C>G) c.5253C>G (p.Arg1751=) c.5184C>G (p.Arg1728=) c.5052C>G (p.Arg1684=) c.5085C>G (p.Arg1695=) c.1476C>G n.3135C>G c.3907C>G c.5112C>G (p.Arg1704=) n.850C>G c.5055C>G (p.Arg1685=) c.5121C>G (p.Arg1707=) c.5046C>G (p.Arg1682=) n.2901C>G c.5178C>G (p.Arg1726=) c.5124C>G (p.Arg1708=) c.5139C>G (p.Arg1713=) c.5049C>G (p.Arg1683=) c.5174C>G n.3337C>G c.5247C>G (p.Arg1749=) n.4068C>G n.2505C>G n.2476C>G n.2366C>G c.4908C>G (p.Arg1636=) c.*4420C>G (n.*4420C>G) c.4944C>G (p.Arg1648=) n.2976C>G c.1435C>G n.2368C>G c.5307C>G (p.Arg1769=) c.5304C>G (p.Arg1768=) c.5196C>G (p.Arg1732=) c.5175C>G (p.Arg1725=) c.4521C>G (p.Arg1507=) c.5469C>G (p.Arg1823=) c.5217C>G (p.Arg1739=) c.3963C>G (p.Arg1321=) | ClinVar dbSNP |
16 | g.2088319C>T | CA7828400 | TSC2 | c.*3602C>T (n.*3602C>T) c.5100C>T (p.Arg1700=) c.5250C>T (p.Arg1750=) c.*5766C>T (n.*5766C>T) c.*8002C>T (n.*8002C>T) c.5253C>T (p.Arg1751=) c.5184C>T (p.Arg1728=) c.5052C>T (p.Arg1684=) c.5085C>T (p.Arg1695=) c.1476C>T n.3135C>T c.3907C>T c.5112C>T (p.Arg1704=) n.850C>T c.5055C>T (p.Arg1685=) c.5121C>T (p.Arg1707=) c.5046C>T (p.Arg1682=) n.2901C>T c.5178C>T (p.Arg1726=) c.5124C>T (p.Arg1708=) c.5139C>T (p.Arg1713=) c.5049C>T (p.Arg1683=) c.5174C>T n.3337C>T c.5247C>T (p.Arg1749=) n.4068C>T n.2505C>T n.2476C>T n.2366C>T c.4908C>T (p.Arg1636=) c.*4420C>T (n.*4420C>T) c.4944C>T (p.Arg1648=) n.2976C>T c.1435C>T n.2368C>T c.5307C>T (p.Arg1769=) c.5304C>T (p.Arg1768=) c.5196C>T (p.Arg1732=) c.5175C>T (p.Arg1725=) c.4521C>T (p.Arg1507=) c.5469C>T (p.Arg1823=) c.5217C>T (p.Arg1739=) c.3963C>T (p.Arg1321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088319_2088346delinsCCAGCGGGTAGGGAATATGGGGCTCCCT | CA2202032682 | TSC2 | c.*3602_*3608+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5100_5106+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5250_5256+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.*5766_*5772+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.*8002_*8008+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5253_5259+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5184_5190+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5052_5058+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5085_5091+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.1476_1482+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.3135_3141+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.3907_3913+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5112_5118+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.850_856+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5055_5061+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5121_5127+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5046_5052+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.2901_2907+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5178_5184+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5124_5130+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5139_5145+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5049_5055+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5174_5180+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.3337_3343+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5247_5253+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.4068_4074+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.2505_2511+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.2476_2482+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.2366_2372+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.4908_4914+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.*4420_*4426+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.4944_4950+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.2976_2982+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.1435_1441+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT n.2368_2374+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5307_5313+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5304_5310+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5196_5202+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5175_5181+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.4521_4527+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5469_5475+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.5217_5223+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT c.3963_3969+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT | |
16 | g.2088320C>A | CA394314786 | TSC2 | c.*3603C>A (n.*3603C>A) c.5101C>A (p.Gln1701Lys) c.5251C>A (p.Gln1751Lys) c.*5767C>A (n.*5767C>A) c.*8003C>A (n.*8003C>A) c.5254C>A (p.Gln1752Lys) c.5185C>A (p.Gln1729Lys) c.5053C>A (p.Gln1685Lys) c.5086C>A (p.Gln1696Lys) c.1477C>A n.3136C>A c.3908C>A c.5113C>A (p.Gln1705Lys) n.851C>A c.5056C>A (p.Gln1686Lys) c.5122C>A (p.Gln1708Lys) c.5047C>A (p.Gln1683Lys) n.2902C>A c.5179C>A (p.Gln1727Lys) c.5125C>A (p.Gln1709Lys) c.5140C>A (p.Gln1714Lys) c.5050C>A (p.Gln1684Lys) c.5175C>A n.3338C>A c.5248C>A (p.Gln1750Lys) n.4069C>A n.2506C>A n.2477C>A n.2367C>A c.4909C>A (p.Gln1637Lys) c.*4421C>A (n.*4421C>A) c.4945C>A (p.Gln1649Lys) n.2977C>A c.1436C>A n.2369C>A c.5308C>A (p.Gln1770Lys) c.5305C>A (p.Gln1769Lys) c.5197C>A (p.Gln1733Lys) c.5176C>A (p.Gln1726Lys) c.4522C>A (p.Gln1508Lys) c.5470C>A (p.Gln1824Lys) c.5218C>A (p.Gln1740Lys) c.3964C>A (p.Gln1322Lys) | |
16 | g.2088320C= | CA2202032696 | TSC2 | c.*3603C= (n.*3603C=) c.5101C= (p.Gln1701=) c.5251C= (p.Gln1751=) c.*5767C= (n.*5767C=) c.*8003C= (n.*8003C=) c.5254C= (p.Gln1752=) c.5185C= (p.Gln1729=) c.5053C= (p.Gln1685=) c.5086C= (p.Gln1696=) c.1477C= n.3136C= c.3908C= c.5113C= (p.Gln1705=) n.851C= c.5056C= (p.Gln1686=) c.5122C= (p.Gln1708=) c.5047C= (p.Gln1683=) n.2902C= c.5179C= (p.Gln1727=) c.5125C= (p.Gln1709=) c.5140C= (p.Gln1714=) c.5050C= (p.Gln1684=) c.5175C= n.3338C= c.5248C= (p.Gln1750=) n.4069C= n.2506C= n.2477C= n.2367C= c.4909C= (p.Gln1637=) c.*4421C= (n.*4421C=) c.4945C= (p.Gln1649=) n.2977C= c.1436C= n.2369C= c.5308C= (p.Gln1770=) c.5305C= (p.Gln1769=) c.5197C= (p.Gln1733=) c.5176C= (p.Gln1726=) c.4522C= (p.Gln1508=) c.5470C= (p.Gln1824=) c.5218C= (p.Gln1740=) c.3964C= (p.Gln1322=) | |
16 | g.2088320C>G | CA394314782 | TSC2 | c.*3603C>G (n.*3603C>G) c.5101C>G (p.Gln1701Glu) c.5251C>G (p.Gln1751Glu) c.*5767C>G (n.*5767C>G) c.*8003C>G (n.*8003C>G) c.5254C>G (p.Gln1752Glu) c.5185C>G (p.Gln1729Glu) c.5053C>G (p.Gln1685Glu) c.5086C>G (p.Gln1696Glu) c.1477C>G n.3136C>G c.3908C>G c.5113C>G (p.Gln1705Glu) n.851C>G c.5056C>G (p.Gln1686Glu) c.5122C>G (p.Gln1708Glu) c.5047C>G (p.Gln1683Glu) n.2902C>G c.5179C>G (p.Gln1727Glu) c.5125C>G (p.Gln1709Glu) c.5140C>G (p.Gln1714Glu) c.5050C>G (p.Gln1684Glu) c.5175C>G n.3338C>G c.5248C>G (p.Gln1750Glu) n.4069C>G n.2506C>G n.2477C>G n.2367C>G c.4909C>G (p.Gln1637Glu) c.*4421C>G (n.*4421C>G) c.4945C>G (p.Gln1649Glu) n.2977C>G c.1436C>G n.2369C>G c.5308C>G (p.Gln1770Glu) c.5305C>G (p.Gln1769Glu) c.5197C>G (p.Gln1733Glu) c.5176C>G (p.Gln1726Glu) c.4522C>G (p.Gln1508Glu) c.5470C>G (p.Gln1824Glu) c.5218C>G (p.Gln1740Glu) c.3964C>G (p.Gln1322Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088320C>T | CA022307 | TSC2 | c.*3603C>T (n.*3603C>T) c.5101C>T (p.Gln1701Ter) c.5251C>T (p.Gln1751Ter) c.*5767C>T (n.*5767C>T) c.*8003C>T (n.*8003C>T) c.5254C>T (p.Gln1752Ter) c.5185C>T (p.Gln1729Ter) c.5053C>T (p.Gln1685Ter) c.5086C>T (p.Gln1696Ter) c.1477C>T n.3136C>T c.3908C>T c.5113C>T (p.Gln1705Ter) n.851C>T c.5056C>T (p.Gln1686Ter) c.5122C>T (p.Gln1708Ter) c.5047C>T (p.Gln1683Ter) n.2902C>T c.5179C>T (p.Gln1727Ter) c.5125C>T (p.Gln1709Ter) c.5140C>T (p.Gln1714Ter) c.5050C>T (p.Gln1684Ter) c.5175C>T n.3338C>T c.5248C>T (p.Gln1750Ter) n.4069C>T n.2506C>T n.2477C>T n.2367C>T c.4909C>T (p.Gln1637Ter) c.*4421C>T (n.*4421C>T) c.4945C>T (p.Gln1649Ter) n.2977C>T c.1436C>T n.2369C>T c.5308C>T (p.Gln1770Ter) c.5305C>T (p.Gln1769Ter) c.5197C>T (p.Gln1733Ter) c.5176C>T (p.Gln1726Ter) c.4522C>T (p.Gln1508Ter) c.5470C>T (p.Gln1824Ter) c.5218C>T (p.Gln1740Ter) c.3964C>T (p.Gln1322Ter) | ClinVar dbSNP |
16 | g.2088327_2088353dup | CA7828399 | TSC2 | c.*3608+2_*3608+28dup c.5106+2_5106+28dup c.5256+2_5256+28dup c.*5772+2_*5772+28dup c.*8008+2_*8008+28dup c.5259+2_5259+28dup c.5190+2_5190+28dup c.5058+2_5058+28dup c.5091+2_5091+28dup c.1482+2_1482+28dup n.3141+2_3141+28dup c.3913+2_3913+28dup c.5118+2_5118+28dup n.856+2_856+28dup c.5061+2_5061+28dup c.5127+2_5127+28dup c.5052+2_5052+28dup n.2907+2_2907+28dup c.5184+2_5184+28dup c.5130+2_5130+28dup c.5145+2_5145+28dup c.5055+2_5055+28dup c.5180+2_5180+28dup n.3343+2_3343+28dup c.5253+2_5253+28dup n.4074+2_4074+28dup n.2511+2_2511+28dup n.2482+2_2482+28dup n.2372+2_2372+28dup c.4914+2_4914+28dup c.*4426+2_*4426+28dup c.4950+2_4950+28dup n.2982+2_2982+28dup c.1441+2_1441+28dup n.2374+2_2374+28dup c.5313+2_5313+28dup c.5310+2_5310+28dup c.5202+2_5202+28dup c.5181+2_5181+28dup c.4527+2_4527+28dup c.5475+2_5475+28dup c.5223+2_5223+28dup c.3969+2_3969+28dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088327_2088353del | CA7828398 | TSC2 | c.*3608+2_*3608+28del c.5106+2_5106+28del c.5256+2_5256+28del c.*5772+2_*5772+28del c.*8008+2_*8008+28del c.5259+2_5259+28del c.5190+2_5190+28del c.5058+2_5058+28del c.5091+2_5091+28del c.1482+2_1482+28del n.3141+2_3141+28del c.3913+2_3913+28del c.5118+2_5118+28del n.856+2_856+28del c.5061+2_5061+28del c.5127+2_5127+28del c.5052+2_5052+28del n.2907+2_2907+28del c.5184+2_5184+28del c.5130+2_5130+28del c.5145+2_5145+28del c.5055+2_5055+28del c.5180+2_5180+28del n.3343+2_3343+28del c.5253+2_5253+28del n.4074+2_4074+28del n.2511+2_2511+28del n.2482+2_2482+28del n.2372+2_2372+28del c.4914+2_4914+28del c.*4426+2_*4426+28del c.4950+2_4950+28del n.2982+2_2982+28del c.1441+2_1441+28del n.2374+2_2374+28del c.5313+2_5313+28del c.5310+2_5310+28del c.5202+2_5202+28del c.5181+2_5181+28del c.4527+2_4527+28del c.5475+2_5475+28del c.5223+2_5223+28del c.3969+2_3969+28del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |