UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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=) |