| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2083198_2087918del | CA16614787 | TSC2 | c.*2233-497_*3394del c.3731-497_4892del c.3881-497_5042del c.*4264-497_*5558del c.*6136_*7794del c.3884-497_5045del c.3815-497_4976del c.3683-497_4844del c.3716-497_4877del c.120-497_1268del n.1269_2927del c.2538-497_3699del c.3755-497_4916del c.3686-497_4847del c.3752-497_4913del c.3683-497_4838del n.1532-497_2693del c.3815-497_4970del c.3686-497_4841del c.3805-497_4966del n.1968-497_3129del c.3884-497_5039del n.2699-497_3860del n.1136-497_2297del n.1107-497_2268del n.997-497_2158del c.3539-497_4700del c.*3051-497_*4212del c.3575-497_4736del n.1642-497_2768del c.9_1227del n.502_2160del c.3938-497_5099del c.3935-497_5096del c.3827-497_4988del c.3809-497_4970del c.3806-497_4967del c.3152-497_4313del c.4100-497_5261del c.3848-497_5009del c.2594-497_3755del | ClinVar |
| 16 | g.2086770_2087006delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT | CA2202024935 | TSC2 | c.*3237_*3338+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4735_4836+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4885_4986+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.*5401_*5502+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.*7637_*7738+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4888_4989+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4819_4920+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4687_4788+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4720_4821+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.1111_1212+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2770_2871+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.3542_3643+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4759_4860+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.485_586+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4690_4791+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4756_4857+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4681_4782+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.902_1003+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2536_2637+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4813_4914+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.370_471+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4684_4785+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4809_4910+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2972_3073+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4882_4983+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.49_285delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.3703_3804+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2140_2241+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2111_2212+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2001_2102+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4543_4644+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.*4055_*4156+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4579_4680+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2611_2712+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.1070_1171+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT n.2003_2104+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4942_5043+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4939_5040+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4831_4932+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4810_4911+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4156_4257+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.5104_5205+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.4852_4953+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT c.3598_3699+135delinsGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGT | |
| 16 | g.2086771_2087006del | CA215953 | TSC2 | c.*3238_*3338+135del c.4736_4836+135del c.4886_4986+135del c.*5402_*5502+135del c.*7638_*7738+135del c.4889_4989+135del c.4820_4920+135del c.4688_4788+135del c.4721_4821+135del c.1112_1212+135del n.2771_2871+135del c.3543_3643+135del c.4760_4860+135del n.486_586+135del c.4691_4791+135del c.4757_4857+135del c.4682_4782+135del n.903_1003+135del n.2537_2637+135del c.4814_4914+135del n.371_471+135del c.4685_4785+135del c.4810_4910+135del n.2973_3073+135del c.4883_4983+135del n.50_285del n.3704_3804+135del n.2141_2241+135del n.2112_2212+135del n.2002_2102+135del c.4544_4644+135del c.*4056_*4156+135del c.4580_4680+135del n.2612_2712+135del c.1071_1171+135del n.2004_2104+135del c.4943_5043+135del c.4940_5040+135del c.4832_4932+135del c.4811_4911+135del c.4157_4257+135del c.5105_5205+135del c.4853_4953+135del c.3599_3699+135del | ClinVar dbSNP |
| 16 | g.2086792_2086997dup | CA2580091086 | TSC2 | c.*3259_*3338+126dup c.4757_4836+126dup c.4907_4986+126dup c.*5423_*5502+126dup c.*7659_*7738+126dup c.4910_4989+126dup c.4841_4920+126dup c.4709_4788+126dup c.4742_4821+126dup c.1133_1212+126dup n.2792_2871+126dup c.3564_3643+126dup c.4781_4860+126dup n.507_586+126dup c.4712_4791+126dup c.4778_4857+126dup c.4703_4782+126dup n.924_1003+126dup n.2558_2637+126dup c.4835_4914+126dup n.392_471+126dup c.4706_4785+126dup c.4831_4910+126dup n.2994_3073+126dup c.4904_4983+126dup n.71_276dup n.3725_3804+126dup n.2162_2241+126dup n.2133_2212+126dup n.2023_2102+126dup c.4565_4644+126dup c.*4077_*4156+126dup c.4601_4680+126dup n.2633_2712+126dup c.1092_1171+126dup n.2025_2104+126dup c.4964_5043+126dup c.4961_5040+126dup c.4853_4932+126dup c.4832_4911+126dup c.4178_4257+126dup c.5126_5205+126dup c.4874_4953+126dup c.3620_3699+126dup | ClinVar |
| 16 | g.2086806_2086818del | CA2573151958 | TSC2 | c.*3273_*3285del (n.*3273_*3285del) c.4771_4783del (p.Gly1591CysfsTer26) c.4921_4933del (p.Gly1641CysfsTer26) c.*5437_*5449del (n.*5437_*5449del) c.*7673_*7685del (n.*7673_*7685del) c.4924_4936del (p.Gly1642CysfsTer26) c.4855_4867del (p.Gly1619CysfsTer26) c.4723_4735del (p.Gly1575CysfsTer26) c.4756_4768del (p.Gly1586CysfsTer26) c.1147_1159del n.2806_2818del c.3578_3590del c.4795_4807del (p.Gly1599CysfsTer26) n.1106_1118del n.521_533del c.4726_4738del (p.Gly1576CysfsTer26) c.4792_4804del (p.Gly1598CysfsTer26) c.4717_4729del (p.Gly1573CysfsTer26) n.938_950del n.2572_2584del c.4849_4861del (p.Gly1617CysfsTer26) n.406_418del c.4720_4732del (p.Gly1574CysfsTer26) c.4845_4857del n.3008_3020del c.4918_4930del (p.Gly1640CysfsTer26) n.85_97del n.3739_3751del n.2176_2188del n.2147_2159del n.2037_2049del c.4579_4591del (p.Gly1527CysfsTer26) c.*4091_*4103del (n.*4091_*4103del) c.4615_4627del (p.Gly1539CysfsTer26) n.2647_2659del c.1106_1118del n.2039_2051del c.4978_4990del (p.Gly1660CysfsTer26) c.4975_4987del (p.Gly1659CysfsTer26) c.4867_4879del (p.Gly1623CysfsTer26) c.4846_4858del (p.Gly1616CysfsTer26) c.4192_4204del (p.Gly1398CysfsTer26) c.5140_5152del (p.Gly1714CysfsTer26) c.4888_4900del (p.Gly1630CysfsTer26) c.3634_3646del (p.Gly1212CysfsTer26) | ClinVar dbSNP |
| 16 | g.2086814_2086816delinsCTT | CA2202025347 | TSC2 | c.*3281_*3283delinsCTT (n.*3281_*3283delinsCTT) c.4779_4781delinsCTT (p.Asp1593=) c.4929_4931delinsCTT (p.Asp1643=) c.*5445_*5447delinsCTT (n.*5445_*5447delinsCTT) c.*7681_*7683delinsCTT (n.*7681_*7683delinsCTT) c.4932_4934delinsCTT (p.Asp1644=) c.4863_4865delinsCTT (p.Asp1621=) c.4731_4733delinsCTT (p.Asp1577=) c.4764_4766delinsCTT (p.Asp1588=) c.1155_1157delinsCTT n.2814_2816delinsCTT c.3586_3588delinsCTT c.4803_4805delinsCTT (p.Asp1601=) n.1114_1116delinsCTT n.529_531delinsCTT c.4734_4736delinsCTT (p.Asp1578=) c.4800_4802delinsCTT (p.Asp1600=) c.4725_4727delinsCTT (p.Asp1575=) n.946_948delinsCTT n.2580_2582delinsCTT c.4857_4859delinsCTT (p.Asp1619=) n.414_416delinsCTT c.4728_4730delinsCTT (p.Asp1576=) c.4853_4855delinsCTT n.3016_3018delinsCTT c.4926_4928delinsCTT (p.Asp1642=) n.93_95delinsCTT n.3747_3749delinsCTT n.2184_2186delinsCTT n.2155_2157delinsCTT n.2045_2047delinsCTT c.4587_4589delinsCTT (p.Asp1529=) c.*4099_*4101delinsCTT (n.*4099_*4101delinsCTT) c.4623_4625delinsCTT (p.Asp1541=) n.2655_2657delinsCTT c.1114_1116delinsCTT n.2047_2049delinsCTT c.4986_4988delinsCTT (p.Asp1662=) c.4983_4985delinsCTT (p.Asp1661=) c.4875_4877delinsCTT (p.Asp1625=) c.4854_4856delinsCTT (p.Asp1618=) c.4200_4202delinsCTT (p.Asp1400=) c.5148_5150delinsCTT (p.Asp1716=) c.4896_4898delinsCTT (p.Asp1632=) c.3642_3644delinsCTT (p.Asp1214=) | |
| 16 | g.2086815T>A | CA394308674 | TSC2 | c.*3282T>A (n.*3282T>A) c.4780T>A (p.Phe1594Ile) c.4930T>A (p.Phe1644Ile) c.*5446T>A (n.*5446T>A) c.*7682T>A (n.*7682T>A) c.4933T>A (p.Phe1645Ile) c.4864T>A (p.Phe1622Ile) c.4732T>A (p.Phe1578Ile) c.4765T>A (p.Phe1589Ile) c.1156T>A n.2815T>A c.3587T>A c.4804T>A (p.Phe1602Ile) n.1115T>A n.530T>A c.4735T>A (p.Phe1579Ile) c.4801T>A (p.Phe1601Ile) c.4726T>A (p.Phe1576Ile) n.947T>A n.2581T>A c.4858T>A (p.Phe1620Ile) n.415T>A c.4729T>A (p.Phe1577Ile) c.4854T>A n.3017T>A c.4927T>A (p.Phe1643Ile) n.94T>A n.3748T>A n.2185T>A n.2156T>A n.2046T>A c.4588T>A (p.Phe1530Ile) c.*4100T>A (n.*4100T>A) c.4624T>A (p.Phe1542Ile) n.2656T>A c.1115T>A n.2048T>A c.4987T>A (p.Phe1663Ile) c.4984T>A (p.Phe1662Ile) c.4876T>A (p.Phe1626Ile) c.4855T>A (p.Phe1619Ile) c.4201T>A (p.Phe1401Ile) c.5149T>A (p.Phe1717Ile) c.4897T>A (p.Phe1633Ile) c.3643T>A (p.Phe1215Ile) | |
| 16 | g.2086815T>C | CA394308678 | TSC2 | c.*3282T>C (n.*3282T>C) c.4780T>C (p.Phe1594Leu) c.4930T>C (p.Phe1644Leu) c.*5446T>C (n.*5446T>C) c.*7682T>C (n.*7682T>C) c.4933T>C (p.Phe1645Leu) c.4864T>C (p.Phe1622Leu) c.4732T>C (p.Phe1578Leu) c.4765T>C (p.Phe1589Leu) c.1156T>C n.2815T>C c.3587T>C c.4804T>C (p.Phe1602Leu) n.1115T>C n.530T>C c.4735T>C (p.Phe1579Leu) c.4801T>C (p.Phe1601Leu) c.4726T>C (p.Phe1576Leu) n.947T>C n.2581T>C c.4858T>C (p.Phe1620Leu) n.415T>C c.4729T>C (p.Phe1577Leu) c.4854T>C n.3017T>C c.4927T>C (p.Phe1643Leu) n.94T>C n.3748T>C n.2185T>C n.2156T>C n.2046T>C c.4588T>C (p.Phe1530Leu) c.*4100T>C (n.*4100T>C) c.4624T>C (p.Phe1542Leu) n.2656T>C c.1115T>C n.2048T>C c.4987T>C (p.Phe1663Leu) c.4984T>C (p.Phe1662Leu) c.4876T>C (p.Phe1626Leu) c.4855T>C (p.Phe1619Leu) c.4201T>C (p.Phe1401Leu) c.5149T>C (p.Phe1717Leu) c.4897T>C (p.Phe1633Leu) c.3643T>C (p.Phe1215Leu) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2086815T>G | CA394308685 | TSC2 | c.*3282T>G (n.*3282T>G) c.4780T>G (p.Phe1594Val) c.4930T>G (p.Phe1644Val) c.*5446T>G (n.*5446T>G) c.*7682T>G (n.*7682T>G) c.4933T>G (p.Phe1645Val) c.4864T>G (p.Phe1622Val) c.4732T>G (p.Phe1578Val) c.4765T>G (p.Phe1589Val) c.1156T>G n.2815T>G c.3587T>G c.4804T>G (p.Phe1602Val) n.1115T>G n.530T>G c.4735T>G (p.Phe1579Val) c.4801T>G (p.Phe1601Val) c.4726T>G (p.Phe1576Val) n.947T>G n.2581T>G c.4858T>G (p.Phe1620Val) n.415T>G c.4729T>G (p.Phe1577Val) c.4854T>G n.3017T>G c.4927T>G (p.Phe1643Val) n.94T>G n.3748T>G n.2185T>G n.2156T>G n.2046T>G c.4588T>G (p.Phe1530Val) c.*4100T>G (n.*4100T>G) c.4624T>G (p.Phe1542Val) n.2656T>G c.1115T>G n.2048T>G c.4987T>G (p.Phe1663Val) c.4984T>G (p.Phe1662Val) c.4876T>G (p.Phe1626Val) c.4855T>G (p.Phe1619Val) c.4201T>G (p.Phe1401Val) c.5149T>G (p.Phe1717Val) c.4897T>G (p.Phe1633Val) c.3643T>G (p.Phe1215Val) | |
| 16 | g.2086815T= | CA2202025371 | TSC2 | c.*3282T= (n.*3282T=) c.4780T= (p.Phe1594=) c.4930T= (p.Phe1644=) c.*5446T= (n.*5446T=) c.*7682T= (n.*7682T=) c.4933T= (p.Phe1645=) c.4864T= (p.Phe1622=) c.4732T= (p.Phe1578=) c.4765T= (p.Phe1589=) c.1156T= n.2815T= c.3587T= c.4804T= (p.Phe1602=) n.1115T= n.530T= c.4735T= (p.Phe1579=) c.4801T= (p.Phe1601=) c.4726T= (p.Phe1576=) n.947T= n.2581T= c.4858T= (p.Phe1620=) n.415T= c.4729T= (p.Phe1577=) c.4854T= n.3017T= c.4927T= (p.Phe1643=) n.94T= n.3748T= n.2185T= n.2156T= n.2046T= c.4588T= (p.Phe1530=) c.*4100T= (n.*4100T=) c.4624T= (p.Phe1542=) n.2656T= c.1115T= n.2048T= c.4987T= (p.Phe1663=) c.4984T= (p.Phe1662=) c.4876T= (p.Phe1626=) c.4855T= (p.Phe1619=) c.4201T= (p.Phe1401=) c.5149T= (p.Phe1717=) c.4897T= (p.Phe1633=) c.3643T= (p.Phe1215=) | |
| 16 | g.2086817dup | CA021342 | TSC2 | c.*3284dup (n.*3284dup) c.4782dup (p.Val1595CysfsTer7) c.4932dup (p.Val1645CysfsTer7) c.*5448dup (n.*5448dup) c.*7684dup (n.*7684dup) c.4935dup (p.Val1646CysfsTer7) c.4866dup (p.Val1623CysfsTer7) c.4734dup (p.Val1579CysfsTer7) c.4767dup (p.Val1590CysfsTer7) c.1158dup n.2817dup c.3589dup c.4806dup (p.Val1603CysfsTer7) n.1117dup n.532dup c.4737dup (p.Val1580CysfsTer7) c.4803dup (p.Val1602CysfsTer7) c.4728dup (p.Val1577CysfsTer7) n.949dup n.2583dup c.4860dup (p.Val1621CysfsTer7) n.417dup c.4731dup (p.Val1578CysfsTer7) c.4856dup n.3019dup c.4929dup (p.Val1644CysfsTer7) n.96dup n.3750dup n.2187dup n.2158dup n.2048dup c.4590dup (p.Val1531CysfsTer7) c.*4102dup (n.*4102dup) c.4626dup (p.Val1543CysfsTer7) n.2658dup c.1117dup n.2050dup c.4989dup (p.Val1664CysfsTer7) c.4986dup (p.Val1663CysfsTer7) c.4878dup (p.Val1627CysfsTer7) c.4857dup (p.Val1620CysfsTer7) c.4203dup (p.Val1402CysfsTer7) c.5151dup (p.Val1718CysfsTer7) c.4899dup (p.Val1634CysfsTer7) c.3645dup (p.Val1216CysfsTer7) | ClinVar dbSNP |
| 16 | g.2086817del | CA021348 | TSC2 | c.*3284del (n.*3284del) c.4782del (p.Phe1594LeufsTer27) c.4932del (p.Phe1644LeufsTer27) c.*5448del (n.*5448del) c.*7684del (n.*7684del) c.4935del (p.Phe1645LeufsTer27) c.4866del (p.Phe1622LeufsTer27) c.4734del (p.Phe1578LeufsTer27) c.4767del (p.Phe1589LeufsTer27) c.1158del n.2817del c.3589del c.4806del (p.Phe1602LeufsTer27) n.1117del n.532del c.4737del (p.Phe1579LeufsTer27) c.4803del (p.Phe1601LeufsTer27) c.4728del (p.Phe1576LeufsTer27) n.949del n.2583del c.4860del (p.Phe1620LeufsTer27) n.417del c.4731del (p.Phe1577LeufsTer27) c.4856del n.3019del c.4929del (p.Phe1643LeufsTer27) n.96del n.3750del n.2187del n.2158del n.2048del c.4590del (p.Phe1530LeufsTer27) c.*4102del (n.*4102del) c.4626del (p.Phe1542LeufsTer27) n.2658del c.1117del n.2050del c.4989del (p.Phe1663LeufsTer27) c.4986del (p.Phe1662LeufsTer27) c.4878del (p.Phe1626LeufsTer27) c.4857del (p.Phe1619LeufsTer27) c.4203del (p.Phe1401LeufsTer27) c.5151del (p.Phe1717LeufsTer27) c.4899del (p.Phe1633LeufsTer27) c.3645del (p.Phe1215LeufsTer27) | ClinVar dbSNP |
| 16 | g.2086816_2086817del | CA021331 | TSC2 | c.*3283_*3284del (n.*3283_*3284del) c.4781_4782del (p.Phe1594CysfsTer7) c.4931_4932del (p.Phe1644CysfsTer7) c.*5447_*5448del (n.*5447_*5448del) c.*7683_*7684del (n.*7683_*7684del) c.4934_4935del (p.Phe1645CysfsTer7) c.4865_4866del (p.Phe1622CysfsTer7) c.4733_4734del (p.Phe1578CysfsTer7) c.4766_4767del (p.Phe1589CysfsTer7) c.1157_1158del n.2816_2817del c.3588_3589del c.4805_4806del (p.Phe1602CysfsTer7) n.1116_1117del n.531_532del c.4736_4737del (p.Phe1579CysfsTer7) c.4802_4803del (p.Phe1601CysfsTer7) c.4727_4728del (p.Phe1576CysfsTer7) n.948_949del n.2582_2583del c.4859_4860del (p.Phe1620CysfsTer7) n.416_417del c.4730_4731del (p.Phe1577CysfsTer7) c.4855_4856del n.3018_3019del c.4928_4929del (p.Phe1643CysfsTer7) n.95_96del n.3749_3750del n.2186_2187del n.2157_2158del n.2047_2048del c.4589_4590del (p.Phe1530CysfsTer7) c.*4101_*4102del (n.*4101_*4102del) c.4625_4626del (p.Phe1542CysfsTer7) n.2657_2658del c.1116_1117del n.2049_2050del c.4988_4989del (p.Phe1663CysfsTer7) c.4985_4986del (p.Phe1662CysfsTer7) c.4877_4878del (p.Phe1626CysfsTer7) c.4856_4857del (p.Phe1619CysfsTer7) c.4202_4203del (p.Phe1401CysfsTer7) c.5150_5151del (p.Phe1717CysfsTer7) c.4898_4899del (p.Phe1633CysfsTer7) c.3644_3645del (p.Phe1215CysfsTer7) | ClinVar dbSNP |
| 16 | g.2086815_2086824delinsTTTGTGTCCA | CA2202025364 | TSC2 | c.*3282_*3291delinsTTTGTGTCCA (n.*3282_*3291delinsTTTGTGTCCA) c.4780_4789delinsTTTGTGTCCA (p.Phe1594=) c.4930_4939delinsTTTGTGTCCA (p.Phe1644=) c.*5446_*5455delinsTTTGTGTCCA (n.*5446_*5455delinsTTTGTGTCCA) c.*7682_*7691delinsTTTGTGTCCA (n.*7682_*7691delinsTTTGTGTCCA) c.4933_4942delinsTTTGTGTCCA (p.Phe1645=) c.4864_4873delinsTTTGTGTCCA (p.Phe1622=) c.4732_4741delinsTTTGTGTCCA (p.Phe1578=) c.4765_4774delinsTTTGTGTCCA (p.Phe1589=) c.1156_1165delinsTTTGTGTCCA n.2815_2824delinsTTTGTGTCCA c.3587_3596delinsTTTGTGTCCA c.4804_4813delinsTTTGTGTCCA (p.Phe1602=) n.1115_1124delinsTTTGTGTCCA n.530_539delinsTTTGTGTCCA c.4735_4744delinsTTTGTGTCCA (p.Phe1579=) c.4801_4810delinsTTTGTGTCCA (p.Phe1601=) c.4726_4735delinsTTTGTGTCCA (p.Phe1576=) n.947_956delinsTTTGTGTCCA n.2581_2590delinsTTTGTGTCCA c.4858_4867delinsTTTGTGTCCA (p.Phe1620=) n.415_424delinsTTTGTGTCCA c.4729_4738delinsTTTGTGTCCA (p.Phe1577=) c.4854_4863delinsTTTGTGTCCA n.3017_3026delinsTTTGTGTCCA c.4927_4936delinsTTTGTGTCCA (p.Phe1643=) n.94_103delinsTTTGTGTCCA n.3748_3757delinsTTTGTGTCCA n.2185_2194delinsTTTGTGTCCA n.2156_2165delinsTTTGTGTCCA n.2046_2055delinsTTTGTGTCCA c.4588_4597delinsTTTGTGTCCA (p.Phe1530=) c.*4100_*4109delinsTTTGTGTCCA (n.*4100_*4109delinsTTTGTGTCCA) c.4624_4633delinsTTTGTGTCCA (p.Phe1542=) n.2656_2665delinsTTTGTGTCCA c.1115_1124delinsTTTGTGTCCA n.2048_2057delinsTTTGTGTCCA c.4987_4996delinsTTTGTGTCCA (p.Phe1663=) c.4984_4993delinsTTTGTGTCCA (p.Phe1662=) c.4876_4885delinsTTTGTGTCCA (p.Phe1626=) c.4855_4864delinsTTTGTGTCCA (p.Phe1619=) c.4201_4210delinsTTTGTGTCCA (p.Phe1401=) c.5149_5158delinsTTTGTGTCCA (p.Phe1717=) c.4897_4906delinsTTTGTGTCCA (p.Phe1633=) c.3643_3652delinsTTTGTGTCCA (p.Phe1215=) | |
| 16 | g.2086816T>A | CA394308701 | TSC2 | c.*3283T>A (n.*3283T>A) c.4781T>A (p.Phe1594Tyr) c.4931T>A (p.Phe1644Tyr) c.*5447T>A (n.*5447T>A) c.*7683T>A (n.*7683T>A) c.4934T>A (p.Phe1645Tyr) c.4865T>A (p.Phe1622Tyr) c.4733T>A (p.Phe1578Tyr) c.4766T>A (p.Phe1589Tyr) c.1157T>A n.2816T>A c.3588T>A c.4805T>A (p.Phe1602Tyr) n.1116T>A n.531T>A c.4736T>A (p.Phe1579Tyr) c.4802T>A (p.Phe1601Tyr) c.4727T>A (p.Phe1576Tyr) n.948T>A n.2582T>A c.4859T>A (p.Phe1620Tyr) n.416T>A c.4730T>A (p.Phe1577Tyr) c.4855T>A n.3018T>A c.4928T>A (p.Phe1643Tyr) n.95T>A n.3749T>A n.2186T>A n.2157T>A n.2047T>A c.4589T>A (p.Phe1530Tyr) c.*4101T>A (n.*4101T>A) c.4625T>A (p.Phe1542Tyr) n.2657T>A c.1116T>A n.2049T>A c.4988T>A (p.Phe1663Tyr) c.4985T>A (p.Phe1662Tyr) c.4877T>A (p.Phe1626Tyr) c.4856T>A (p.Phe1619Tyr) c.4202T>A (p.Phe1401Tyr) c.5150T>A (p.Phe1717Tyr) c.4898T>A (p.Phe1633Tyr) c.3644T>A (p.Phe1215Tyr) | |
| 16 | g.2086816T>C | CA394308704 | TSC2 | c.*3283T>C (n.*3283T>C) c.4781T>C (p.Phe1594Ser) c.4931T>C (p.Phe1644Ser) c.*5447T>C (n.*5447T>C) c.*7683T>C (n.*7683T>C) c.4934T>C (p.Phe1645Ser) c.4865T>C (p.Phe1622Ser) c.4733T>C (p.Phe1578Ser) c.4766T>C (p.Phe1589Ser) c.1157T>C n.2816T>C c.3588T>C c.4805T>C (p.Phe1602Ser) n.1116T>C n.531T>C c.4736T>C (p.Phe1579Ser) c.4802T>C (p.Phe1601Ser) c.4727T>C (p.Phe1576Ser) n.948T>C n.2582T>C c.4859T>C (p.Phe1620Ser) n.416T>C c.4730T>C (p.Phe1577Ser) c.4855T>C n.3018T>C c.4928T>C (p.Phe1643Ser) n.95T>C n.3749T>C n.2186T>C n.2157T>C n.2047T>C c.4589T>C (p.Phe1530Ser) c.*4101T>C (n.*4101T>C) c.4625T>C (p.Phe1542Ser) n.2657T>C c.1116T>C n.2049T>C c.4988T>C (p.Phe1663Ser) c.4985T>C (p.Phe1662Ser) c.4877T>C (p.Phe1626Ser) c.4856T>C (p.Phe1619Ser) c.4202T>C (p.Phe1401Ser) c.5150T>C (p.Phe1717Ser) c.4898T>C (p.Phe1633Ser) c.3644T>C (p.Phe1215Ser) | |
| 16 | g.2086816T>G | CA394308707 | TSC2 | c.*3283T>G (n.*3283T>G) c.4781T>G (p.Phe1594Cys) c.4931T>G (p.Phe1644Cys) c.*5447T>G (n.*5447T>G) c.*7683T>G (n.*7683T>G) c.4934T>G (p.Phe1645Cys) c.4865T>G (p.Phe1622Cys) c.4733T>G (p.Phe1578Cys) c.4766T>G (p.Phe1589Cys) c.1157T>G n.2816T>G c.3588T>G c.4805T>G (p.Phe1602Cys) n.1116T>G n.531T>G c.4736T>G (p.Phe1579Cys) c.4802T>G (p.Phe1601Cys) c.4727T>G (p.Phe1576Cys) n.948T>G n.2582T>G c.4859T>G (p.Phe1620Cys) n.416T>G c.4730T>G (p.Phe1577Cys) c.4855T>G n.3018T>G c.4928T>G (p.Phe1643Cys) n.95T>G n.3749T>G n.2186T>G n.2157T>G n.2047T>G c.4589T>G (p.Phe1530Cys) c.*4101T>G (n.*4101T>G) c.4625T>G (p.Phe1542Cys) n.2657T>G c.1116T>G n.2049T>G c.4988T>G (p.Phe1663Cys) c.4985T>G (p.Phe1662Cys) c.4877T>G (p.Phe1626Cys) c.4856T>G (p.Phe1619Cys) c.4202T>G (p.Phe1401Cys) c.5150T>G (p.Phe1717Cys) c.4898T>G (p.Phe1633Cys) c.3644T>G (p.Phe1215Cys) | |
| 16 | g.2086820_2086828del | CA658656613 | TSC2 | c.*3287_*3295del (n.*3287_*3295del) c.4785_4793del (p.Ser1596_Val1598del) c.4935_4943del (p.Ser1646_Val1648del) c.*5451_*5459del (n.*5451_*5459del) c.*7687_*7695del (n.*7687_*7695del) c.4938_4946del (p.Ser1647_Val1649del) c.4869_4877del (p.Ser1624_Val1626del) c.4737_4745del (p.Ser1580_Val1582del) c.4770_4778del (p.Ser1591_Val1593del) c.1161_1169del n.2820_2828del c.3592_3600del c.4809_4817del (p.Ser1604_Val1606del) n.1120_1128del n.535_543del c.4740_4748del (p.Ser1581_Val1583del) c.4806_4814del (p.Ser1603_Val1605del) c.4731_4739del (p.Ser1578_Val1580del) n.952_960del n.2586_2594del c.4863_4871del (p.Ser1622_Val1624del) n.420_428del c.4734_4742del (p.Ser1579_Val1581del) c.4859_4867del n.3022_3030del c.4932_4940del (p.Ser1645_Val1647del) n.99_107del n.3753_3761del n.2190_2198del n.2161_2169del n.2051_2059del c.4593_4601del (p.Ser1532_Val1534del) c.*4105_*4113del (n.*4105_*4113del) c.4629_4637del (p.Ser1544_Val1546del) n.2661_2669del c.1120_1128del n.2053_2061del c.4992_5000del (p.Ser1665_Val1667del) c.4989_4997del (p.Ser1664_Val1666del) c.4881_4889del (p.Ser1628_Val1630del) c.4860_4868del (p.Ser1621_Val1623del) c.4206_4214del (p.Ser1403_Val1405del) c.5154_5162del (p.Ser1719_Val1721del) c.4902_4910del (p.Ser1635_Val1637del) c.3648_3656del (p.Ser1217_Val1219del) | ClinVar dbSNP |
| 16 | g.2086817T>A | CA394308711 | TSC2 | c.*3284T>A (n.*3284T>A) c.4782T>A (p.Phe1594Leu) c.4932T>A (p.Phe1644Leu) c.*5448T>A (n.*5448T>A) c.*7684T>A (n.*7684T>A) c.4935T>A (p.Phe1645Leu) c.4866T>A (p.Phe1622Leu) c.4734T>A (p.Phe1578Leu) c.4767T>A (p.Phe1589Leu) c.1158T>A n.2817T>A c.3589T>A c.4806T>A (p.Phe1602Leu) n.1117T>A n.532T>A c.4737T>A (p.Phe1579Leu) c.4803T>A (p.Phe1601Leu) c.4728T>A (p.Phe1576Leu) n.949T>A n.2583T>A c.4860T>A (p.Phe1620Leu) n.417T>A c.4731T>A (p.Phe1577Leu) c.4856T>A n.3019T>A c.4929T>A (p.Phe1643Leu) n.96T>A n.3750T>A n.2187T>A n.2158T>A n.2048T>A c.4590T>A (p.Phe1530Leu) c.*4102T>A (n.*4102T>A) c.4626T>A (p.Phe1542Leu) n.2658T>A c.1117T>A n.2050T>A c.4989T>A (p.Phe1663Leu) c.4986T>A (p.Phe1662Leu) c.4878T>A (p.Phe1626Leu) c.4857T>A (p.Phe1619Leu) c.4203T>A (p.Phe1401Leu) c.5151T>A (p.Phe1717Leu) c.4899T>A (p.Phe1633Leu) c.3645T>A (p.Phe1215Leu) | dbSNP |
| 16 | g.2086817T>C | CA492959951 | TSC2 | c.*3284T>C (n.*3284T>C) c.4782T>C (p.Phe1594=) c.4932T>C (p.Phe1644=) c.*5448T>C (n.*5448T>C) c.*7684T>C (n.*7684T>C) c.4935T>C (p.Phe1645=) c.4866T>C (p.Phe1622=) c.4734T>C (p.Phe1578=) c.4767T>C (p.Phe1589=) c.1158T>C n.2817T>C c.3589T>C c.4806T>C (p.Phe1602=) n.1117T>C n.532T>C c.4737T>C (p.Phe1579=) c.4803T>C (p.Phe1601=) c.4728T>C (p.Phe1576=) n.949T>C n.2583T>C c.4860T>C (p.Phe1620=) n.417T>C c.4731T>C (p.Phe1577=) c.4856T>C n.3019T>C c.4929T>C (p.Phe1643=) n.96T>C n.3750T>C n.2187T>C n.2158T>C n.2048T>C c.4590T>C (p.Phe1530=) c.*4102T>C (n.*4102T>C) c.4626T>C (p.Phe1542=) n.2658T>C c.1117T>C n.2050T>C c.4989T>C (p.Phe1663=) c.4986T>C (p.Phe1662=) c.4878T>C (p.Phe1626=) c.4857T>C (p.Phe1619=) c.4203T>C (p.Phe1401=) c.5151T>C (p.Phe1717=) c.4899T>C (p.Phe1633=) c.3645T>C (p.Phe1215=) | gnomAD v4 |
| 16 | g.2086817T>G | CA394308713 | TSC2 | c.*3284T>G (n.*3284T>G) c.4782T>G (p.Phe1594Leu) c.4932T>G (p.Phe1644Leu) c.*5448T>G (n.*5448T>G) c.*7684T>G (n.*7684T>G) c.4935T>G (p.Phe1645Leu) c.4866T>G (p.Phe1622Leu) c.4734T>G (p.Phe1578Leu) c.4767T>G (p.Phe1589Leu) c.1158T>G n.2817T>G c.3589T>G c.4806T>G (p.Phe1602Leu) n.1117T>G n.532T>G c.4737T>G (p.Phe1579Leu) c.4803T>G (p.Phe1601Leu) c.4728T>G (p.Phe1576Leu) n.949T>G n.2583T>G c.4860T>G (p.Phe1620Leu) n.417T>G c.4731T>G (p.Phe1577Leu) c.4856T>G n.3019T>G c.4929T>G (p.Phe1643Leu) n.96T>G n.3750T>G n.2187T>G n.2158T>G n.2048T>G c.4590T>G (p.Phe1530Leu) c.*4102T>G (n.*4102T>G) c.4626T>G (p.Phe1542Leu) n.2658T>G c.1117T>G n.2050T>G c.4989T>G (p.Phe1663Leu) c.4986T>G (p.Phe1662Leu) c.4878T>G (p.Phe1626Leu) c.4857T>G (p.Phe1619Leu) c.4203T>G (p.Phe1401Leu) c.5151T>G (p.Phe1717Leu) c.4899T>G (p.Phe1633Leu) c.3645T>G (p.Phe1215Leu) | |
| 16 | g.2086820_2086821del | CA645572650 | TSC2 | c.*3287_*3288del (n.*3287_*3288del) c.4785_4786del (p.Ser1596HisfsTer5) c.4935_4936del (p.Ser1646HisfsTer5) c.*5451_*5452del (n.*5451_*5452del) c.*7687_*7688del (n.*7687_*7688del) c.4938_4939del (p.Ser1647HisfsTer5) c.4869_4870del (p.Ser1624HisfsTer5) c.4737_4738del (p.Ser1580HisfsTer5) c.4770_4771del (p.Ser1591HisfsTer5) c.1161_1162del n.2820_2821del c.3592_3593del c.4809_4810del (p.Ser1604HisfsTer5) n.1120_1121del n.535_536del c.4740_4741del (p.Ser1581HisfsTer5) c.4806_4807del (p.Ser1603HisfsTer5) c.4731_4732del (p.Ser1578HisfsTer5) n.952_953del n.2586_2587del c.4863_4864del (p.Ser1622HisfsTer5) n.420_421del c.4734_4735del (p.Ser1579HisfsTer5) c.4859_4860del n.3022_3023del c.4932_4933del (p.Ser1645HisfsTer5) n.99_100del n.3753_3754del n.2190_2191del n.2161_2162del n.2051_2052del c.4593_4594del (p.Ser1532HisfsTer5) c.*4105_*4106del (n.*4105_*4106del) c.4629_4630del (p.Ser1544HisfsTer5) n.2661_2662del c.1120_1121del n.2053_2054del c.4992_4993del (p.Ser1665HisfsTer5) c.4989_4990del (p.Ser1664HisfsTer5) c.4881_4882del (p.Ser1628HisfsTer5) c.4860_4861del (p.Ser1621HisfsTer5) c.4206_4207del (p.Ser1403HisfsTer5) c.5154_5155del (p.Ser1719HisfsTer5) c.4902_4903del (p.Ser1635HisfsTer5) c.3648_3649del (p.Ser1217HisfsTer5) | ClinVar COSMIC |
| 16 | g.2086818del | CA2695221650 | TSC2 | c.*3285del (n.*3285del) c.4783del (p.Val1595CysfsTer26) c.4933del (p.Val1645CysfsTer26) c.*5449del (n.*5449del) c.*7685del (n.*7685del) c.4936del (p.Val1646CysfsTer26) c.4867del (p.Val1623CysfsTer26) c.4735del (p.Val1579CysfsTer26) c.4768del (p.Val1590CysfsTer26) c.1159del n.2818del c.3590del c.4807del (p.Val1603CysfsTer26) n.1118del n.533del c.4738del (p.Val1580CysfsTer26) c.4804del (p.Val1602CysfsTer26) c.4729del (p.Val1577CysfsTer26) n.950del n.2584del c.4861del (p.Val1621CysfsTer26) n.418del c.4732del (p.Val1578CysfsTer26) c.4857del n.3020del c.4930del (p.Val1644CysfsTer26) n.97del n.3751del n.2188del n.2159del n.2049del c.4591del (p.Val1531CysfsTer26) c.*4103del (n.*4103del) c.4627del (p.Val1543CysfsTer26) n.2659del c.1118del n.2051del c.4990del (p.Val1664CysfsTer26) c.4987del (p.Val1663CysfsTer26) c.4879del (p.Val1627CysfsTer26) c.4858del (p.Val1620CysfsTer26) c.4204del (p.Val1402CysfsTer26) c.5152del (p.Val1718CysfsTer26) c.4900del (p.Val1634CysfsTer26) c.3646del (p.Val1216CysfsTer26) | |
| 16 | g.2086818G>A | CA16620103 | TSC2 | c.*3285G>A (n.*3285G>A) c.4783G>A (p.Val1595Met) c.4933G>A (p.Val1645Met) c.*5449G>A (n.*5449G>A) c.*7685G>A (n.*7685G>A) c.4936G>A (p.Val1646Met) c.4867G>A (p.Val1623Met) c.4735G>A (p.Val1579Met) c.4768G>A (p.Val1590Met) c.1159G>A n.2818G>A c.3590G>A c.4807G>A (p.Val1603Met) n.1118G>A n.533G>A c.4738G>A (p.Val1580Met) c.4804G>A (p.Val1602Met) c.4729G>A (p.Val1577Met) n.950G>A n.2584G>A c.4861G>A (p.Val1621Met) n.418G>A c.4732G>A (p.Val1578Met) c.4857G>A n.3020G>A c.4930G>A (p.Val1644Met) n.97G>A n.3751G>A n.2188G>A n.2159G>A n.2049G>A c.4591G>A (p.Val1531Met) c.*4103G>A (n.*4103G>A) c.4627G>A (p.Val1543Met) n.2659G>A c.1118G>A n.2051G>A c.4990G>A (p.Val1664Met) c.4987G>A (p.Val1663Met) c.4879G>A (p.Val1627Met) c.4858G>A (p.Val1620Met) c.4204G>A (p.Val1402Met) c.5152G>A (p.Val1718Met) c.4900G>A (p.Val1634Met) c.3646G>A (p.Val1216Met) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2086818G>C | CA394308719 | TSC2 | c.*3285G>C (n.*3285G>C) c.4783G>C (p.Val1595Leu) c.4933G>C (p.Val1645Leu) c.*5449G>C (n.*5449G>C) c.*7685G>C (n.*7685G>C) c.4936G>C (p.Val1646Leu) c.4867G>C (p.Val1623Leu) c.4735G>C (p.Val1579Leu) c.4768G>C (p.Val1590Leu) c.1159G>C n.2818G>C c.3590G>C c.4807G>C (p.Val1603Leu) n.1118G>C n.533G>C c.4738G>C (p.Val1580Leu) c.4804G>C (p.Val1602Leu) c.4729G>C (p.Val1577Leu) n.950G>C n.2584G>C c.4861G>C (p.Val1621Leu) n.418G>C c.4732G>C (p.Val1578Leu) c.4857G>C n.3020G>C c.4930G>C (p.Val1644Leu) n.97G>C n.3751G>C n.2188G>C n.2159G>C n.2049G>C c.4591G>C (p.Val1531Leu) c.*4103G>C (n.*4103G>C) c.4627G>C (p.Val1543Leu) n.2659G>C c.1118G>C n.2051G>C c.4990G>C (p.Val1664Leu) c.4987G>C (p.Val1663Leu) c.4879G>C (p.Val1627Leu) c.4858G>C (p.Val1620Leu) c.4204G>C (p.Val1402Leu) c.5152G>C (p.Val1718Leu) c.4900G>C (p.Val1634Leu) c.3646G>C (p.Val1216Leu) | ClinVar dbSNP |
| 16 | g.2086818G= | CA2202025395 | TSC2 | c.*3285G= (n.*3285G=) c.4783G= (p.Val1595=) c.4933G= (p.Val1645=) c.*5449G= (n.*5449G=) c.*7685G= (n.*7685G=) c.4936G= (p.Val1646=) c.4867G= (p.Val1623=) c.4735G= (p.Val1579=) c.4768G= (p.Val1590=) c.1159G= n.2818G= c.3590G= c.4807G= (p.Val1603=) n.1118G= n.533G= c.4738G= (p.Val1580=) c.4804G= (p.Val1602=) c.4729G= (p.Val1577=) n.950G= n.2584G= c.4861G= (p.Val1621=) n.418G= c.4732G= (p.Val1578=) c.4857G= n.3020G= c.4930G= (p.Val1644=) n.97G= n.3751G= n.2188G= n.2159G= n.2049G= c.4591G= (p.Val1531=) c.*4103G= (n.*4103G=) c.4627G= (p.Val1543=) n.2659G= c.1118G= n.2051G= c.4990G= (p.Val1664=) c.4987G= (p.Val1663=) c.4879G= (p.Val1627=) c.4858G= (p.Val1620=) c.4204G= (p.Val1402=) c.5152G= (p.Val1718=) c.4900G= (p.Val1634=) c.3646G= (p.Val1216=) | |
| 16 | g.2086818G>T | CA394308723 | TSC2 | c.*3285G>T (n.*3285G>T) c.4783G>T (p.Val1595Leu) c.4933G>T (p.Val1645Leu) c.*5449G>T (n.*5449G>T) c.*7685G>T (n.*7685G>T) c.4936G>T (p.Val1646Leu) c.4867G>T (p.Val1623Leu) c.4735G>T (p.Val1579Leu) c.4768G>T (p.Val1590Leu) c.1159G>T n.2818G>T c.3590G>T c.4807G>T (p.Val1603Leu) n.1118G>T n.533G>T c.4738G>T (p.Val1580Leu) c.4804G>T (p.Val1602Leu) c.4729G>T (p.Val1577Leu) n.950G>T n.2584G>T c.4861G>T (p.Val1621Leu) n.418G>T c.4732G>T (p.Val1578Leu) c.4857G>T n.3020G>T c.4930G>T (p.Val1644Leu) n.97G>T n.3751G>T n.2188G>T n.2159G>T n.2049G>T c.4591G>T (p.Val1531Leu) c.*4103G>T (n.*4103G>T) c.4627G>T (p.Val1543Leu) n.2659G>T c.1118G>T n.2051G>T c.4990G>T (p.Val1664Leu) c.4987G>T (p.Val1663Leu) c.4879G>T (p.Val1627Leu) c.4858G>T (p.Val1620Leu) c.4204G>T (p.Val1402Leu) c.5152G>T (p.Val1718Leu) c.4900G>T (p.Val1634Leu) c.3646G>T (p.Val1216Leu) | ClinVar dbSNP COSMIC COSMIC |
| 16 | g.2086819T>A | CA394308726 | TSC2 | c.*3286T>A (n.*3286T>A) c.4784T>A (p.Val1595Glu) c.4934T>A (p.Val1645Glu) c.*5450T>A (n.*5450T>A) c.*7686T>A (n.*7686T>A) c.4937T>A (p.Val1646Glu) c.4868T>A (p.Val1623Glu) c.4736T>A (p.Val1579Glu) c.4769T>A (p.Val1590Glu) c.1160T>A n.2819T>A c.3591T>A c.4808T>A (p.Val1603Glu) n.1119T>A n.534T>A c.4739T>A (p.Val1580Glu) c.4805T>A (p.Val1602Glu) c.4730T>A (p.Val1577Glu) n.951T>A n.2585T>A c.4862T>A (p.Val1621Glu) n.419T>A c.4733T>A (p.Val1578Glu) c.4858T>A n.3021T>A c.4931T>A (p.Val1644Glu) n.98T>A n.3752T>A n.2189T>A n.2160T>A n.2050T>A c.4592T>A (p.Val1531Glu) c.*4104T>A (n.*4104T>A) c.4628T>A (p.Val1543Glu) n.2660T>A c.1119T>A n.2052T>A c.4991T>A (p.Val1664Glu) c.4988T>A (p.Val1663Glu) c.4880T>A (p.Val1627Glu) c.4859T>A (p.Val1620Glu) c.4205T>A (p.Val1402Glu) c.5153T>A (p.Val1718Glu) c.4901T>A (p.Val1634Glu) c.3647T>A (p.Val1216Glu) | dbSNP |
| 16 | g.2086819T>C | CA394308730 | TSC2 | c.*3286T>C (n.*3286T>C) c.4784T>C (p.Val1595Ala) c.4934T>C (p.Val1645Ala) c.*5450T>C (n.*5450T>C) c.*7686T>C (n.*7686T>C) c.4937T>C (p.Val1646Ala) c.4868T>C (p.Val1623Ala) c.4736T>C (p.Val1579Ala) c.4769T>C (p.Val1590Ala) c.1160T>C n.2819T>C c.3591T>C c.4808T>C (p.Val1603Ala) n.1119T>C n.534T>C c.4739T>C (p.Val1580Ala) c.4805T>C (p.Val1602Ala) c.4730T>C (p.Val1577Ala) n.951T>C n.2585T>C c.4862T>C (p.Val1621Ala) n.419T>C c.4733T>C (p.Val1578Ala) c.4858T>C n.3021T>C c.4931T>C (p.Val1644Ala) n.98T>C n.3752T>C n.2189T>C n.2160T>C n.2050T>C c.4592T>C (p.Val1531Ala) c.*4104T>C (n.*4104T>C) c.4628T>C (p.Val1543Ala) n.2660T>C c.1119T>C n.2052T>C c.4991T>C (p.Val1664Ala) c.4988T>C (p.Val1663Ala) c.4880T>C (p.Val1627Ala) c.4859T>C (p.Val1620Ala) c.4205T>C (p.Val1402Ala) c.5153T>C (p.Val1718Ala) c.4901T>C (p.Val1634Ala) c.3647T>C (p.Val1216Ala) | |
| 16 | g.2086819T>G | CA021354 | TSC2 | c.*3286T>G (n.*3286T>G) c.4784T>G (p.Val1595Gly) c.4934T>G (p.Val1645Gly) c.*5450T>G (n.*5450T>G) c.*7686T>G (n.*7686T>G) c.4937T>G (p.Val1646Gly) c.4868T>G (p.Val1623Gly) c.4736T>G (p.Val1579Gly) c.4769T>G (p.Val1590Gly) c.1160T>G n.2819T>G c.3591T>G c.4808T>G (p.Val1603Gly) n.1119T>G n.534T>G c.4739T>G (p.Val1580Gly) c.4805T>G (p.Val1602Gly) c.4730T>G (p.Val1577Gly) n.951T>G n.2585T>G c.4862T>G (p.Val1621Gly) n.419T>G c.4733T>G (p.Val1578Gly) c.4858T>G n.3021T>G c.4931T>G (p.Val1644Gly) n.98T>G n.3752T>G n.2189T>G n.2160T>G n.2050T>G c.4592T>G (p.Val1531Gly) c.*4104T>G (n.*4104T>G) c.4628T>G (p.Val1543Gly) n.2660T>G c.1119T>G n.2052T>G c.4991T>G (p.Val1664Gly) c.4988T>G (p.Val1663Gly) c.4880T>G (p.Val1627Gly) c.4859T>G (p.Val1620Gly) c.4205T>G (p.Val1402Gly) c.5153T>G (p.Val1718Gly) c.4901T>G (p.Val1634Gly) c.3647T>G (p.Val1216Gly) | ClinVar dbSNP |
| 16 | g.2086819T= | CA2202025402 | TSC2 | c.*3286T= (n.*3286T=) c.4784T= (p.Val1595=) c.4934T= (p.Val1645=) c.*5450T= (n.*5450T=) c.*7686T= (n.*7686T=) c.4937T= (p.Val1646=) c.4868T= (p.Val1623=) c.4736T= (p.Val1579=) c.4769T= (p.Val1590=) c.1160T= n.2819T= c.3591T= c.4808T= (p.Val1603=) n.1119T= n.534T= c.4739T= (p.Val1580=) c.4805T= (p.Val1602=) c.4730T= (p.Val1577=) n.951T= n.2585T= c.4862T= (p.Val1621=) n.419T= c.4733T= (p.Val1578=) c.4858T= n.3021T= c.4931T= (p.Val1644=) n.98T= n.3752T= n.2189T= n.2160T= n.2050T= c.4592T= (p.Val1531=) c.*4104T= (n.*4104T=) c.4628T= (p.Val1543=) n.2660T= c.1119T= n.2052T= c.4991T= (p.Val1664=) c.4988T= (p.Val1663=) c.4880T= (p.Val1627=) c.4859T= (p.Val1620=) c.4205T= (p.Val1402=) c.5153T= (p.Val1718=) c.4901T= (p.Val1634=) c.3647T= (p.Val1216=) | |
| 16 | g.2086820G>A | CA492959957 | TSC2 | c.*3287G>A (n.*3287G>A) c.4785G>A (p.Val1595=) c.4935G>A (p.Val1645=) c.*5451G>A (n.*5451G>A) c.*7687G>A (n.*7687G>A) c.4938G>A (p.Val1646=) c.4869G>A (p.Val1623=) c.4737G>A (p.Val1579=) c.4770G>A (p.Val1590=) c.1161G>A n.2820G>A c.3592G>A c.4809G>A (p.Val1603=) n.1120G>A n.535G>A c.4740G>A (p.Val1580=) c.4806G>A (p.Val1602=) c.4731G>A (p.Val1577=) n.952G>A n.2586G>A c.4863G>A (p.Val1621=) n.420G>A c.4734G>A (p.Val1578=) c.4859G>A n.3022G>A c.4932G>A (p.Val1644=) n.99G>A n.3753G>A n.2190G>A n.2161G>A n.2051G>A c.4593G>A (p.Val1531=) c.*4105G>A (n.*4105G>A) c.4629G>A (p.Val1543=) n.2661G>A c.1120G>A n.2053G>A c.4992G>A (p.Val1664=) c.4989G>A (p.Val1663=) c.4881G>A (p.Val1627=) c.4860G>A (p.Val1620=) c.4206G>A (p.Val1402=) c.5154G>A (p.Val1718=) c.4902G>A (p.Val1634=) c.3648G>A (p.Val1216=) | ClinVar |
| 16 | g.2086820G>C | CA492959958 | TSC2 | c.*3287G>C (n.*3287G>C) c.4785G>C (p.Val1595=) c.4935G>C (p.Val1645=) c.*5451G>C (n.*5451G>C) c.*7687G>C (n.*7687G>C) c.4938G>C (p.Val1646=) c.4869G>C (p.Val1623=) c.4737G>C (p.Val1579=) c.4770G>C (p.Val1590=) c.1161G>C n.2820G>C c.3592G>C c.4809G>C (p.Val1603=) n.1120G>C n.535G>C c.4740G>C (p.Val1580=) c.4806G>C (p.Val1602=) c.4731G>C (p.Val1577=) n.952G>C n.2586G>C c.4863G>C (p.Val1621=) n.420G>C c.4734G>C (p.Val1578=) c.4859G>C n.3022G>C c.4932G>C (p.Val1644=) n.99G>C n.3753G>C n.2190G>C n.2161G>C n.2051G>C c.4593G>C (p.Val1531=) c.*4105G>C (n.*4105G>C) c.4629G>C (p.Val1543=) n.2661G>C c.1120G>C n.2053G>C c.4992G>C (p.Val1664=) c.4989G>C (p.Val1663=) c.4881G>C (p.Val1627=) c.4860G>C (p.Val1620=) c.4206G>C (p.Val1402=) c.5154G>C (p.Val1718=) c.4902G>C (p.Val1634=) c.3648G>C (p.Val1216=) | dbSNP |
| 16 | g.2086820G>T | CA492959960 | TSC2 | c.*3287G>T (n.*3287G>T) c.4785G>T (p.Val1595=) c.4935G>T (p.Val1645=) c.*5451G>T (n.*5451G>T) c.*7687G>T (n.*7687G>T) c.4938G>T (p.Val1646=) c.4869G>T (p.Val1623=) c.4737G>T (p.Val1579=) c.4770G>T (p.Val1590=) c.1161G>T n.2820G>T c.3592G>T c.4809G>T (p.Val1603=) n.1120G>T n.535G>T c.4740G>T (p.Val1580=) c.4806G>T (p.Val1602=) c.4731G>T (p.Val1577=) n.952G>T n.2586G>T c.4863G>T (p.Val1621=) n.420G>T c.4734G>T (p.Val1578=) c.4859G>T n.3022G>T c.4932G>T (p.Val1644=) n.99G>T n.3753G>T n.2190G>T n.2161G>T n.2051G>T c.4593G>T (p.Val1531=) c.*4105G>T (n.*4105G>T) c.4629G>T (p.Val1543=) n.2661G>T c.1120G>T n.2053G>T c.4992G>T (p.Val1664=) c.4989G>T (p.Val1663=) c.4881G>T (p.Val1627=) c.4860G>T (p.Val1620=) c.4206G>T (p.Val1402=) c.5154G>T (p.Val1718=) c.4902G>T (p.Val1634=) c.3648G>T (p.Val1216=) | |
| 16 | g.2086821T>A | CA394308737 | TSC2 | c.*3288T>A (n.*3288T>A) c.4786T>A (p.Ser1596Thr) c.4936T>A (p.Ser1646Thr) c.*5452T>A (n.*5452T>A) c.*7688T>A (n.*7688T>A) c.4939T>A (p.Ser1647Thr) c.4870T>A (p.Ser1624Thr) c.4738T>A (p.Ser1580Thr) c.4771T>A (p.Ser1591Thr) c.1162T>A n.2821T>A c.3593T>A c.4810T>A (p.Ser1604Thr) n.1121T>A n.536T>A c.4741T>A (p.Ser1581Thr) c.4807T>A (p.Ser1603Thr) c.4732T>A (p.Ser1578Thr) n.953T>A n.2587T>A c.4864T>A (p.Ser1622Thr) n.421T>A c.4735T>A (p.Ser1579Thr) c.4860T>A n.3023T>A c.4933T>A (p.Ser1645Thr) n.100T>A n.3754T>A n.2191T>A n.2162T>A n.2052T>A c.4594T>A (p.Ser1532Thr) c.*4106T>A (n.*4106T>A) c.4630T>A (p.Ser1544Thr) n.2662T>A c.1121T>A n.2054T>A c.4993T>A (p.Ser1665Thr) c.4990T>A (p.Ser1664Thr) c.4882T>A (p.Ser1628Thr) c.4861T>A (p.Ser1621Thr) c.4207T>A (p.Ser1403Thr) c.5155T>A (p.Ser1719Thr) c.4903T>A (p.Ser1635Thr) c.3649T>A (p.Ser1217Thr) | |
| 16 | g.2086821T>C | CA394308742 | TSC2 | c.*3288T>C (n.*3288T>C) c.4786T>C (p.Ser1596Pro) c.4936T>C (p.Ser1646Pro) c.*5452T>C (n.*5452T>C) c.*7688T>C (n.*7688T>C) c.4939T>C (p.Ser1647Pro) c.4870T>C (p.Ser1624Pro) c.4738T>C (p.Ser1580Pro) c.4771T>C (p.Ser1591Pro) c.1162T>C n.2821T>C c.3593T>C c.4810T>C (p.Ser1604Pro) n.1121T>C n.536T>C c.4741T>C (p.Ser1581Pro) c.4807T>C (p.Ser1603Pro) c.4732T>C (p.Ser1578Pro) n.953T>C n.2587T>C c.4864T>C (p.Ser1622Pro) n.421T>C c.4735T>C (p.Ser1579Pro) c.4860T>C n.3023T>C c.4933T>C (p.Ser1645Pro) n.100T>C n.3754T>C n.2191T>C n.2162T>C n.2052T>C c.4594T>C (p.Ser1532Pro) c.*4106T>C (n.*4106T>C) c.4630T>C (p.Ser1544Pro) n.2662T>C c.1121T>C n.2054T>C c.4993T>C (p.Ser1665Pro) c.4990T>C (p.Ser1664Pro) c.4882T>C (p.Ser1628Pro) c.4861T>C (p.Ser1621Pro) c.4207T>C (p.Ser1403Pro) c.5155T>C (p.Ser1719Pro) c.4903T>C (p.Ser1635Pro) c.3649T>C (p.Ser1217Pro) | ClinVar dbSNP |
| 16 | g.2086821T>G | CA394308744 | TSC2 | c.*3288T>G (n.*3288T>G) c.4786T>G (p.Ser1596Ala) c.4936T>G (p.Ser1646Ala) c.*5452T>G (n.*5452T>G) c.*7688T>G (n.*7688T>G) c.4939T>G (p.Ser1647Ala) c.4870T>G (p.Ser1624Ala) c.4738T>G (p.Ser1580Ala) c.4771T>G (p.Ser1591Ala) c.1162T>G n.2821T>G c.3593T>G c.4810T>G (p.Ser1604Ala) n.1121T>G n.536T>G c.4741T>G (p.Ser1581Ala) c.4807T>G (p.Ser1603Ala) c.4732T>G (p.Ser1578Ala) n.953T>G n.2587T>G c.4864T>G (p.Ser1622Ala) n.421T>G c.4735T>G (p.Ser1579Ala) c.4860T>G n.3023T>G c.4933T>G (p.Ser1645Ala) n.100T>G n.3754T>G n.2191T>G n.2162T>G n.2052T>G c.4594T>G (p.Ser1532Ala) c.*4106T>G (n.*4106T>G) c.4630T>G (p.Ser1544Ala) n.2662T>G c.1121T>G n.2054T>G c.4993T>G (p.Ser1665Ala) c.4990T>G (p.Ser1664Ala) c.4882T>G (p.Ser1628Ala) c.4861T>G (p.Ser1621Ala) c.4207T>G (p.Ser1403Ala) c.5155T>G (p.Ser1719Ala) c.4903T>G (p.Ser1635Ala) c.3649T>G (p.Ser1217Ala) | |
| 16 | g.2086822C>A | CA394308748 | TSC2 | c.*3289C>A (n.*3289C>A) c.4787C>A (p.Ser1596Tyr) c.4937C>A (p.Ser1646Tyr) c.*5453C>A (n.*5453C>A) c.*7689C>A (n.*7689C>A) c.4940C>A (p.Ser1647Tyr) c.4871C>A (p.Ser1624Tyr) c.4739C>A (p.Ser1580Tyr) c.4772C>A (p.Ser1591Tyr) c.1163C>A n.2822C>A c.3594C>A c.4811C>A (p.Ser1604Tyr) n.1122C>A n.537C>A c.4742C>A (p.Ser1581Tyr) c.4808C>A (p.Ser1603Tyr) c.4733C>A (p.Ser1578Tyr) n.954C>A n.2588C>A c.4865C>A (p.Ser1622Tyr) n.422C>A c.4736C>A (p.Ser1579Tyr) c.4861C>A n.3024C>A c.4934C>A (p.Ser1645Tyr) n.101C>A n.3755C>A n.2192C>A n.2163C>A n.2053C>A c.4595C>A (p.Ser1532Tyr) c.*4107C>A (n.*4107C>A) c.4631C>A (p.Ser1544Tyr) n.2663C>A c.1122C>A n.2055C>A c.4994C>A (p.Ser1665Tyr) c.4991C>A (p.Ser1664Tyr) c.4883C>A (p.Ser1628Tyr) c.4862C>A (p.Ser1621Tyr) c.4208C>A (p.Ser1403Tyr) c.5156C>A (p.Ser1719Tyr) c.4904C>A (p.Ser1635Tyr) c.3650C>A (p.Ser1217Tyr) | dbSNP gnomAD v4 |
| 16 | g.2086822C= | CA2202025422 | TSC2 | c.*3289C= (n.*3289C=) c.4787C= (p.Ser1596=) c.4937C= (p.Ser1646=) c.*5453C= (n.*5453C=) c.*7689C= (n.*7689C=) c.4940C= (p.Ser1647=) c.4871C= (p.Ser1624=) c.4739C= (p.Ser1580=) c.4772C= (p.Ser1591=) c.1163C= n.2822C= c.3594C= c.4811C= (p.Ser1604=) n.1122C= n.537C= c.4742C= (p.Ser1581=) c.4808C= (p.Ser1603=) c.4733C= (p.Ser1578=) n.954C= n.2588C= c.4865C= (p.Ser1622=) n.422C= c.4736C= (p.Ser1579=) c.4861C= n.3024C= c.4934C= (p.Ser1645=) n.101C= n.3755C= n.2192C= n.2163C= n.2053C= c.4595C= (p.Ser1532=) c.*4107C= (n.*4107C=) c.4631C= (p.Ser1544=) n.2663C= c.1122C= n.2055C= c.4994C= (p.Ser1665=) c.4991C= (p.Ser1664=) c.4883C= (p.Ser1628=) c.4862C= (p.Ser1621=) c.4208C= (p.Ser1403=) c.5156C= (p.Ser1719=) c.4904C= (p.Ser1635=) c.3650C= (p.Ser1217=) | |
| 16 | g.2086822C>G | CA394308746 | TSC2 | c.*3289C>G (n.*3289C>G) c.4787C>G (p.Ser1596Cys) c.4937C>G (p.Ser1646Cys) c.*5453C>G (n.*5453C>G) c.*7689C>G (n.*7689C>G) c.4940C>G (p.Ser1647Cys) c.4871C>G (p.Ser1624Cys) c.4739C>G (p.Ser1580Cys) c.4772C>G (p.Ser1591Cys) c.1163C>G n.2822C>G c.3594C>G c.4811C>G (p.Ser1604Cys) n.1122C>G n.537C>G c.4742C>G (p.Ser1581Cys) c.4808C>G (p.Ser1603Cys) c.4733C>G (p.Ser1578Cys) n.954C>G n.2588C>G c.4865C>G (p.Ser1622Cys) n.422C>G c.4736C>G (p.Ser1579Cys) c.4861C>G n.3024C>G c.4934C>G (p.Ser1645Cys) n.101C>G n.3755C>G n.2192C>G n.2163C>G n.2053C>G c.4595C>G (p.Ser1532Cys) c.*4107C>G (n.*4107C>G) c.4631C>G (p.Ser1544Cys) n.2663C>G c.1122C>G n.2055C>G c.4994C>G (p.Ser1665Cys) c.4991C>G (p.Ser1664Cys) c.4883C>G (p.Ser1628Cys) c.4862C>G (p.Ser1621Cys) c.4208C>G (p.Ser1403Cys) c.5156C>G (p.Ser1719Cys) c.4904C>G (p.Ser1635Cys) c.3650C>G (p.Ser1217Cys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2086822C>T | CA394308747 | TSC2 | c.*3289C>T (n.*3289C>T) c.4787C>T (p.Ser1596Phe) c.4937C>T (p.Ser1646Phe) c.*5453C>T (n.*5453C>T) c.*7689C>T (n.*7689C>T) c.4940C>T (p.Ser1647Phe) c.4871C>T (p.Ser1624Phe) c.4739C>T (p.Ser1580Phe) c.4772C>T (p.Ser1591Phe) c.1163C>T n.2822C>T c.3594C>T c.4811C>T (p.Ser1604Phe) n.1122C>T n.537C>T c.4742C>T (p.Ser1581Phe) c.4808C>T (p.Ser1603Phe) c.4733C>T (p.Ser1578Phe) n.954C>T n.2588C>T c.4865C>T (p.Ser1622Phe) n.422C>T c.4736C>T (p.Ser1579Phe) c.4861C>T n.3024C>T c.4934C>T (p.Ser1645Phe) n.101C>T n.3755C>T n.2192C>T n.2163C>T n.2053C>T c.4595C>T (p.Ser1532Phe) c.*4107C>T (n.*4107C>T) c.4631C>T (p.Ser1544Phe) n.2663C>T c.1122C>T n.2055C>T c.4994C>T (p.Ser1665Phe) c.4991C>T (p.Ser1664Phe) c.4883C>T (p.Ser1628Phe) c.4862C>T (p.Ser1621Phe) c.4208C>T (p.Ser1403Phe) c.5156C>T (p.Ser1719Phe) c.4904C>T (p.Ser1635Phe) c.3650C>T (p.Ser1217Phe) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2086823C>A | CA492959966 | TSC2 | c.*3290C>A (n.*3290C>A) c.4788C>A (p.Ser1596=) c.4938C>A (p.Ser1646=) c.*5454C>A (n.*5454C>A) c.*7690C>A (n.*7690C>A) c.4941C>A (p.Ser1647=) c.4872C>A (p.Ser1624=) c.4740C>A (p.Ser1580=) c.4773C>A (p.Ser1591=) c.1164C>A n.2823C>A c.3595C>A c.4812C>A (p.Ser1604=) n.1123C>A n.538C>A c.4743C>A (p.Ser1581=) c.4809C>A (p.Ser1603=) c.4734C>A (p.Ser1578=) n.955C>A n.2589C>A c.4866C>A (p.Ser1622=) n.423C>A c.4737C>A (p.Ser1579=) c.4862C>A n.3025C>A c.4935C>A (p.Ser1645=) n.102C>A n.3756C>A n.2193C>A n.2164C>A n.2054C>A c.4596C>A (p.Ser1532=) c.*4108C>A (n.*4108C>A) c.4632C>A (p.Ser1544=) n.2664C>A c.1123C>A n.2056C>A c.4995C>A (p.Ser1665=) c.4992C>A (p.Ser1664=) c.4884C>A (p.Ser1628=) c.4863C>A (p.Ser1621=) c.4209C>A (p.Ser1403=) c.5157C>A (p.Ser1719=) c.4905C>A (p.Ser1635=) c.3651C>A (p.Ser1217=) | dbSNP |
| 16 | g.2086823C= | CA2202025433 | TSC2 | c.*3290C= (n.*3290C=) c.4788C= (p.Ser1596=) c.4938C= (p.Ser1646=) c.*5454C= (n.*5454C=) c.*7690C= (n.*7690C=) c.4941C= (p.Ser1647=) c.4872C= (p.Ser1624=) c.4740C= (p.Ser1580=) c.4773C= (p.Ser1591=) c.1164C= n.2823C= c.3595C= c.4812C= (p.Ser1604=) n.1123C= n.538C= c.4743C= (p.Ser1581=) c.4809C= (p.Ser1603=) c.4734C= (p.Ser1578=) n.955C= n.2589C= c.4866C= (p.Ser1622=) n.423C= c.4737C= (p.Ser1579=) c.4862C= n.3025C= c.4935C= (p.Ser1645=) n.102C= n.3756C= n.2193C= n.2164C= n.2054C= c.4596C= (p.Ser1532=) c.*4108C= (n.*4108C=) c.4632C= (p.Ser1544=) n.2664C= c.1123C= n.2056C= c.4995C= (p.Ser1665=) c.4992C= (p.Ser1664=) c.4884C= (p.Ser1628=) c.4863C= (p.Ser1621=) c.4209C= (p.Ser1403=) c.5157C= (p.Ser1719=) c.4905C= (p.Ser1635=) c.3651C= (p.Ser1217=) | |
| 16 | g.2086823C>G | CA492959967 | TSC2 | c.*3290C>G (n.*3290C>G) c.4788C>G (p.Ser1596=) c.4938C>G (p.Ser1646=) c.*5454C>G (n.*5454C>G) c.*7690C>G (n.*7690C>G) c.4941C>G (p.Ser1647=) c.4872C>G (p.Ser1624=) c.4740C>G (p.Ser1580=) c.4773C>G (p.Ser1591=) c.1164C>G n.2823C>G c.3595C>G c.4812C>G (p.Ser1604=) n.1123C>G n.538C>G c.4743C>G (p.Ser1581=) c.4809C>G (p.Ser1603=) c.4734C>G (p.Ser1578=) n.955C>G n.2589C>G c.4866C>G (p.Ser1622=) n.423C>G c.4737C>G (p.Ser1579=) c.4862C>G n.3025C>G c.4935C>G (p.Ser1645=) n.102C>G n.3756C>G n.2193C>G n.2164C>G n.2054C>G c.4596C>G (p.Ser1532=) c.*4108C>G (n.*4108C>G) c.4632C>G (p.Ser1544=) n.2664C>G c.1123C>G n.2056C>G c.4995C>G (p.Ser1665=) c.4992C>G (p.Ser1664=) c.4884C>G (p.Ser1628=) c.4863C>G (p.Ser1621=) c.4209C>G (p.Ser1403=) c.5157C>G (p.Ser1719=) c.4905C>G (p.Ser1635=) c.3651C>G (p.Ser1217=) | |
| 16 | g.2086823C>T | CA053104 | TSC2 | c.*3290C>T (n.*3290C>T) c.4788C>T (p.Ser1596=) c.4938C>T (p.Ser1646=) c.*5454C>T (n.*5454C>T) c.*7690C>T (n.*7690C>T) c.4941C>T (p.Ser1647=) c.4872C>T (p.Ser1624=) c.4740C>T (p.Ser1580=) c.4773C>T (p.Ser1591=) c.1164C>T n.2823C>T c.3595C>T c.4812C>T (p.Ser1604=) n.1123C>T n.538C>T c.4743C>T (p.Ser1581=) c.4809C>T (p.Ser1603=) c.4734C>T (p.Ser1578=) n.955C>T n.2589C>T c.4866C>T (p.Ser1622=) n.423C>T c.4737C>T (p.Ser1579=) c.4862C>T n.3025C>T c.4935C>T (p.Ser1645=) n.102C>T n.3756C>T n.2193C>T n.2164C>T n.2054C>T c.4596C>T (p.Ser1532=) c.*4108C>T (n.*4108C>T) c.4632C>T (p.Ser1544=) n.2664C>T c.1123C>T n.2056C>T c.4995C>T (p.Ser1665=) c.4992C>T (p.Ser1664=) c.4884C>T (p.Ser1628=) c.4863C>T (p.Ser1621=) c.4209C>T (p.Ser1403=) c.5157C>T (p.Ser1719=) c.4905C>T (p.Ser1635=) c.3651C>T (p.Ser1217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2086824A= | CA2202025438 | TSC2 | c.*3291A= (n.*3291A=) c.4789A= (p.Ile1597=) c.4939A= (p.Ile1647=) c.*5455A= (n.*5455A=) c.*7691A= (n.*7691A=) c.4942A= (p.Ile1648=) c.4873A= (p.Ile1625=) c.4741A= (p.Ile1581=) c.4774A= (p.Ile1592=) c.1165A= n.2824A= c.3596A= c.4813A= (p.Ile1605=) n.1124A= n.539A= c.4744A= (p.Ile1582=) c.4810A= (p.Ile1604=) c.4735A= (p.Ile1579=) n.956A= n.2590A= c.4867A= (p.Ile1623=) n.424A= c.4738A= (p.Ile1580=) c.4863A= n.3026A= c.4936A= (p.Ile1646=) n.103A= n.3757A= n.2194A= n.2165A= n.2055A= c.4597A= (p.Ile1533=) c.*4109A= (n.*4109A=) c.4633A= (p.Ile1545=) n.2665A= c.1124A= n.2057A= c.4996A= (p.Ile1666=) c.4993A= (p.Ile1665=) c.4885A= (p.Ile1629=) c.4864A= (p.Ile1622=) c.4210A= (p.Ile1404=) c.5158A= (p.Ile1720=) c.4906A= (p.Ile1636=) c.3652A= (p.Ile1218=) | |
| 16 | g.2086824A>C | CA394308756 | TSC2 | c.*3291A>C (n.*3291A>C) c.4789A>C (p.Ile1597Leu) c.4939A>C (p.Ile1647Leu) c.*5455A>C (n.*5455A>C) c.*7691A>C (n.*7691A>C) c.4942A>C (p.Ile1648Leu) c.4873A>C (p.Ile1625Leu) c.4741A>C (p.Ile1581Leu) c.4774A>C (p.Ile1592Leu) c.1165A>C n.2824A>C c.3596A>C c.4813A>C (p.Ile1605Leu) n.1124A>C n.539A>C c.4744A>C (p.Ile1582Leu) c.4810A>C (p.Ile1604Leu) c.4735A>C (p.Ile1579Leu) n.956A>C n.2590A>C c.4867A>C (p.Ile1623Leu) n.424A>C c.4738A>C (p.Ile1580Leu) c.4863A>C n.3026A>C c.4936A>C (p.Ile1646Leu) n.103A>C n.3757A>C n.2194A>C n.2165A>C n.2055A>C c.4597A>C (p.Ile1533Leu) c.*4109A>C (n.*4109A>C) c.4633A>C (p.Ile1545Leu) n.2665A>C c.1124A>C n.2057A>C c.4996A>C (p.Ile1666Leu) c.4993A>C (p.Ile1665Leu) c.4885A>C (p.Ile1629Leu) c.4864A>C (p.Ile1622Leu) c.4210A>C (p.Ile1404Leu) c.5158A>C (p.Ile1720Leu) c.4906A>C (p.Ile1636Leu) c.3652A>C (p.Ile1218Leu) | ClinVar dbSNP |
| 16 | g.2086824A>G | CA053109 | TSC2 | c.*3291A>G (n.*3291A>G) c.4789A>G (p.Ile1597Val) c.4939A>G (p.Ile1647Val) c.*5455A>G (n.*5455A>G) c.*7691A>G (n.*7691A>G) c.4942A>G (p.Ile1648Val) c.4873A>G (p.Ile1625Val) c.4741A>G (p.Ile1581Val) c.4774A>G (p.Ile1592Val) c.1165A>G n.2824A>G c.3596A>G c.4813A>G (p.Ile1605Val) n.1124A>G n.539A>G c.4744A>G (p.Ile1582Val) c.4810A>G (p.Ile1604Val) c.4735A>G (p.Ile1579Val) n.956A>G n.2590A>G c.4867A>G (p.Ile1623Val) n.424A>G c.4738A>G (p.Ile1580Val) c.4863A>G n.3026A>G c.4936A>G (p.Ile1646Val) n.103A>G n.3757A>G n.2194A>G n.2165A>G n.2055A>G c.4597A>G (p.Ile1533Val) c.*4109A>G (n.*4109A>G) c.4633A>G (p.Ile1545Val) n.2665A>G c.1124A>G n.2057A>G c.4996A>G (p.Ile1666Val) c.4993A>G (p.Ile1665Val) c.4885A>G (p.Ile1629Val) c.4864A>G (p.Ile1622Val) c.4210A>G (p.Ile1404Val) c.5158A>G (p.Ile1720Val) c.4906A>G (p.Ile1636Val) c.3652A>G (p.Ile1218Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2086824A>T | CA394308769 | TSC2 | c.*3291A>T (n.*3291A>T) c.4789A>T (p.Ile1597Phe) c.4939A>T (p.Ile1647Phe) c.*5455A>T (n.*5455A>T) c.*7691A>T (n.*7691A>T) c.4942A>T (p.Ile1648Phe) c.4873A>T (p.Ile1625Phe) c.4741A>T (p.Ile1581Phe) c.4774A>T (p.Ile1592Phe) c.1165A>T n.2824A>T c.3596A>T c.4813A>T (p.Ile1605Phe) n.1124A>T n.539A>T c.4744A>T (p.Ile1582Phe) c.4810A>T (p.Ile1604Phe) c.4735A>T (p.Ile1579Phe) n.956A>T n.2590A>T c.4867A>T (p.Ile1623Phe) n.424A>T c.4738A>T (p.Ile1580Phe) c.4863A>T n.3026A>T c.4936A>T (p.Ile1646Phe) n.103A>T n.3757A>T n.2194A>T n.2165A>T n.2055A>T c.4597A>T (p.Ile1533Phe) c.*4109A>T (n.*4109A>T) c.4633A>T (p.Ile1545Phe) n.2665A>T c.1124A>T n.2057A>T c.4996A>T (p.Ile1666Phe) c.4993A>T (p.Ile1665Phe) c.4885A>T (p.Ile1629Phe) c.4864A>T (p.Ile1622Phe) c.4210A>T (p.Ile1404Phe) c.5158A>T (p.Ile1720Phe) c.4906A>T (p.Ile1636Phe) c.3652A>T (p.Ile1218Phe) | dbSNP |
| 16 | g.2086825T>A | CA394308770 | TSC2 | c.*3292T>A (n.*3292T>A) c.4790T>A (p.Ile1597Asn) c.4940T>A (p.Ile1647Asn) c.*5456T>A (n.*5456T>A) c.*7692T>A (n.*7692T>A) c.4943T>A (p.Ile1648Asn) c.4874T>A (p.Ile1625Asn) c.4742T>A (p.Ile1581Asn) c.4775T>A (p.Ile1592Asn) c.1166T>A n.2825T>A c.3597T>A c.4814T>A (p.Ile1605Asn) n.1125T>A n.540T>A c.4745T>A (p.Ile1582Asn) c.4811T>A (p.Ile1604Asn) c.4736T>A (p.Ile1579Asn) n.957T>A n.2591T>A c.4868T>A (p.Ile1623Asn) n.425T>A c.4739T>A (p.Ile1580Asn) c.4864T>A n.3027T>A c.4937T>A (p.Ile1646Asn) n.104T>A n.3758T>A n.2195T>A n.2166T>A n.2056T>A c.4598T>A (p.Ile1533Asn) c.*4110T>A (n.*4110T>A) c.4634T>A (p.Ile1545Asn) n.2666T>A c.1125T>A n.2058T>A c.4997T>A (p.Ile1666Asn) c.4994T>A (p.Ile1665Asn) c.4886T>A (p.Ile1629Asn) c.4865T>A (p.Ile1622Asn) c.4211T>A (p.Ile1404Asn) c.5159T>A (p.Ile1720Asn) c.4907T>A (p.Ile1636Asn) c.3653T>A (p.Ile1218Asn) | dbSNP |