| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |