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.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.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.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.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 |
| 16 | g.2086825T>C | CA021368 | TSC2 | c.*3292T>C (n.*3292T>C) c.4790T>C (p.Ile1597Thr) c.4940T>C (p.Ile1647Thr) c.*5456T>C (n.*5456T>C) c.*7692T>C (n.*7692T>C) c.4943T>C (p.Ile1648Thr) c.4874T>C (p.Ile1625Thr) c.4742T>C (p.Ile1581Thr) c.4775T>C (p.Ile1592Thr) c.1166T>C n.2825T>C c.3597T>C c.4814T>C (p.Ile1605Thr) n.1125T>C n.540T>C c.4745T>C (p.Ile1582Thr) c.4811T>C (p.Ile1604Thr) c.4736T>C (p.Ile1579Thr) n.957T>C n.2591T>C c.4868T>C (p.Ile1623Thr) n.425T>C c.4739T>C (p.Ile1580Thr) c.4864T>C n.3027T>C c.4937T>C (p.Ile1646Thr) n.104T>C n.3758T>C n.2195T>C n.2166T>C n.2056T>C c.4598T>C (p.Ile1533Thr) c.*4110T>C (n.*4110T>C) c.4634T>C (p.Ile1545Thr) n.2666T>C c.1125T>C n.2058T>C c.4997T>C (p.Ile1666Thr) c.4994T>C (p.Ile1665Thr) c.4886T>C (p.Ile1629Thr) c.4865T>C (p.Ile1622Thr) c.4211T>C (p.Ile1404Thr) c.5159T>C (p.Ile1720Thr) c.4907T>C (p.Ile1636Thr) c.3653T>C (p.Ile1218Thr) | ClinVar dbSNP |
| 16 | g.2086825T>G | CA394308773 | TSC2 | c.*3292T>G (n.*3292T>G) c.4790T>G (p.Ile1597Ser) c.4940T>G (p.Ile1647Ser) c.*5456T>G (n.*5456T>G) c.*7692T>G (n.*7692T>G) c.4943T>G (p.Ile1648Ser) c.4874T>G (p.Ile1625Ser) c.4742T>G (p.Ile1581Ser) c.4775T>G (p.Ile1592Ser) c.1166T>G n.2825T>G c.3597T>G c.4814T>G (p.Ile1605Ser) n.1125T>G n.540T>G c.4745T>G (p.Ile1582Ser) c.4811T>G (p.Ile1604Ser) c.4736T>G (p.Ile1579Ser) n.957T>G n.2591T>G c.4868T>G (p.Ile1623Ser) n.425T>G c.4739T>G (p.Ile1580Ser) c.4864T>G n.3027T>G c.4937T>G (p.Ile1646Ser) n.104T>G n.3758T>G n.2195T>G n.2166T>G n.2056T>G c.4598T>G (p.Ile1533Ser) c.*4110T>G (n.*4110T>G) c.4634T>G (p.Ile1545Ser) n.2666T>G c.1125T>G n.2058T>G c.4997T>G (p.Ile1666Ser) c.4994T>G (p.Ile1665Ser) c.4886T>G (p.Ile1629Ser) c.4865T>G (p.Ile1622Ser) c.4211T>G (p.Ile1404Ser) c.5159T>G (p.Ile1720Ser) c.4907T>G (p.Ile1636Ser) c.3653T>G (p.Ile1218Ser) | |
| 16 | g.2086825T= | CA2202025447 | TSC2 | c.*3292T= (n.*3292T=) c.4790T= (p.Ile1597=) c.4940T= (p.Ile1647=) c.*5456T= (n.*5456T=) c.*7692T= (n.*7692T=) c.4943T= (p.Ile1648=) c.4874T= (p.Ile1625=) c.4742T= (p.Ile1581=) c.4775T= (p.Ile1592=) c.1166T= n.2825T= c.3597T= c.4814T= (p.Ile1605=) n.1125T= n.540T= c.4745T= (p.Ile1582=) c.4811T= (p.Ile1604=) c.4736T= (p.Ile1579=) n.957T= n.2591T= c.4868T= (p.Ile1623=) n.425T= c.4739T= (p.Ile1580=) c.4864T= n.3027T= c.4937T= (p.Ile1646=) n.104T= n.3758T= n.2195T= n.2166T= n.2056T= c.4598T= (p.Ile1533=) c.*4110T= (n.*4110T=) c.4634T= (p.Ile1545=) n.2666T= c.1125T= n.2058T= c.4997T= (p.Ile1666=) c.4994T= (p.Ile1665=) c.4886T= (p.Ile1629=) c.4865T= (p.Ile1622=) c.4211T= (p.Ile1404=) c.5159T= (p.Ile1720=) c.4907T= (p.Ile1636=) c.3653T= (p.Ile1218=) | |
| 16 | g.2086826dup | CA2695221653 | TSC2 | c.*3293dup (n.*3293dup) c.4791dup (p.Val1598CysfsTer4) c.4941dup (p.Val1648CysfsTer4) c.*5457dup (n.*5457dup) c.*7693dup (n.*7693dup) c.4944dup (p.Val1649CysfsTer4) c.4875dup (p.Val1626CysfsTer4) c.4743dup (p.Val1582CysfsTer4) c.4776dup (p.Val1593CysfsTer4) c.1167dup n.2826dup c.3598dup c.4815dup (p.Val1606CysfsTer4) n.1126dup n.541dup c.4746dup (p.Val1583CysfsTer4) c.4812dup (p.Val1605CysfsTer4) c.4737dup (p.Val1580CysfsTer4) n.958dup n.2592dup c.4869dup (p.Val1624CysfsTer4) n.426dup c.4740dup (p.Val1581CysfsTer4) c.4865dup n.3028dup c.4938dup (p.Val1647CysfsTer4) n.105dup n.3759dup n.2196dup n.2167dup n.2057dup c.4599dup (p.Val1534CysfsTer4) c.*4111dup (n.*4111dup) c.4635dup (p.Val1546CysfsTer4) n.2667dup c.1126dup n.2059dup c.4998dup (p.Val1667CysfsTer4) c.4995dup (p.Val1666CysfsTer4) c.4887dup (p.Val1630CysfsTer4) c.4866dup (p.Val1623CysfsTer4) c.4212dup (p.Val1405CysfsTer4) c.5160dup (p.Val1721CysfsTer4) c.4908dup (p.Val1637CysfsTer4) c.3654dup (p.Val1219CysfsTer4) | |
| 16 | g.2086826T>A | CA492959973 | TSC2 | c.*3293T>A (n.*3293T>A) c.4791T>A (p.Ile1597=) c.4941T>A (p.Ile1647=) c.*5457T>A (n.*5457T>A) c.*7693T>A (n.*7693T>A) c.4944T>A (p.Ile1648=) c.4875T>A (p.Ile1625=) c.4743T>A (p.Ile1581=) c.4776T>A (p.Ile1592=) c.1167T>A n.2826T>A c.3598T>A c.4815T>A (p.Ile1605=) n.1126T>A n.541T>A c.4746T>A (p.Ile1582=) c.4812T>A (p.Ile1604=) c.4737T>A (p.Ile1579=) n.958T>A n.2592T>A c.4869T>A (p.Ile1623=) n.426T>A c.4740T>A (p.Ile1580=) c.4865T>A n.3028T>A c.4938T>A (p.Ile1646=) n.105T>A n.3759T>A n.2196T>A n.2167T>A n.2057T>A c.4599T>A (p.Ile1533=) c.*4111T>A (n.*4111T>A) c.4635T>A (p.Ile1545=) n.2667T>A c.1126T>A n.2059T>A c.4998T>A (p.Ile1666=) c.4995T>A (p.Ile1665=) c.4887T>A (p.Ile1629=) c.4866T>A (p.Ile1622=) c.4212T>A (p.Ile1404=) c.5160T>A (p.Ile1720=) c.4908T>A (p.Ile1636=) c.3654T>A (p.Ile1218=) | dbSNP |
| 16 | g.2086826T>C | CA492959974 | TSC2 | c.*3293T>C (n.*3293T>C) c.4791T>C (p.Ile1597=) c.4941T>C (p.Ile1647=) c.*5457T>C (n.*5457T>C) c.*7693T>C (n.*7693T>C) c.4944T>C (p.Ile1648=) c.4875T>C (p.Ile1625=) c.4743T>C (p.Ile1581=) c.4776T>C (p.Ile1592=) c.1167T>C n.2826T>C c.3598T>C c.4815T>C (p.Ile1605=) n.1126T>C n.541T>C c.4746T>C (p.Ile1582=) c.4812T>C (p.Ile1604=) c.4737T>C (p.Ile1579=) n.958T>C n.2592T>C c.4869T>C (p.Ile1623=) n.426T>C c.4740T>C (p.Ile1580=) c.4865T>C n.3028T>C c.4938T>C (p.Ile1646=) n.105T>C n.3759T>C n.2196T>C n.2167T>C n.2057T>C c.4599T>C (p.Ile1533=) c.*4111T>C (n.*4111T>C) c.4635T>C (p.Ile1545=) n.2667T>C c.1126T>C n.2059T>C c.4998T>C (p.Ile1666=) c.4995T>C (p.Ile1665=) c.4887T>C (p.Ile1629=) c.4866T>C (p.Ile1622=) c.4212T>C (p.Ile1404=) c.5160T>C (p.Ile1720=) c.4908T>C (p.Ile1636=) c.3654T>C (p.Ile1218=) | |
| 16 | g.2086826T>G | CA394308778 | TSC2 | c.*3293T>G (n.*3293T>G) c.4791T>G (p.Ile1597Met) c.4941T>G (p.Ile1647Met) c.*5457T>G (n.*5457T>G) c.*7693T>G (n.*7693T>G) c.4944T>G (p.Ile1648Met) c.4875T>G (p.Ile1625Met) c.4743T>G (p.Ile1581Met) c.4776T>G (p.Ile1592Met) c.1167T>G n.2826T>G c.3598T>G c.4815T>G (p.Ile1605Met) n.1126T>G n.541T>G c.4746T>G (p.Ile1582Met) c.4812T>G (p.Ile1604Met) c.4737T>G (p.Ile1579Met) n.958T>G n.2592T>G c.4869T>G (p.Ile1623Met) n.426T>G c.4740T>G (p.Ile1580Met) c.4865T>G n.3028T>G c.4938T>G (p.Ile1646Met) n.105T>G n.3759T>G n.2196T>G n.2167T>G n.2057T>G c.4599T>G (p.Ile1533Met) c.*4111T>G (n.*4111T>G) c.4635T>G (p.Ile1545Met) n.2667T>G c.1126T>G n.2059T>G c.4998T>G (p.Ile1666Met) c.4995T>G (p.Ile1665Met) c.4887T>G (p.Ile1629Met) c.4866T>G (p.Ile1622Met) c.4212T>G (p.Ile1404Met) c.5160T>G (p.Ile1720Met) c.4908T>G (p.Ile1636Met) c.3654T>G (p.Ile1218Met) | |
| 16 | g.2086827G>A | CA053113 | TSC2 | c.*3294G>A (n.*3294G>A) c.4792G>A (p.Val1598Ile) c.4942G>A (p.Val1648Ile) c.*5458G>A (n.*5458G>A) c.*7694G>A (n.*7694G>A) c.4945G>A (p.Val1649Ile) c.4876G>A (p.Val1626Ile) c.4744G>A (p.Val1582Ile) c.4777G>A (p.Val1593Ile) c.1168G>A n.2827G>A c.3599G>A c.4816G>A (p.Val1606Ile) n.1127G>A n.542G>A c.4747G>A (p.Val1583Ile) c.4813G>A (p.Val1605Ile) c.4738G>A (p.Val1580Ile) n.959G>A n.2593G>A c.4870G>A (p.Val1624Ile) n.427G>A c.4741G>A (p.Val1581Ile) c.4866G>A n.3029G>A c.4939G>A (p.Val1647Ile) n.106G>A n.3760G>A n.2197G>A n.2168G>A n.2058G>A c.4600G>A (p.Val1534Ile) c.*4112G>A (n.*4112G>A) c.4636G>A (p.Val1546Ile) n.2668G>A c.1127G>A n.2060G>A c.4999G>A (p.Val1667Ile) c.4996G>A (p.Val1666Ile) c.4888G>A (p.Val1630Ile) c.4867G>A (p.Val1623Ile) c.4213G>A (p.Val1405Ile) c.5161G>A (p.Val1721Ile) c.4909G>A (p.Val1637Ile) c.3655G>A (p.Val1219Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2086827G>C | CA394308781 | TSC2 | c.*3294G>C (n.*3294G>C) c.4792G>C (p.Val1598Leu) c.4942G>C (p.Val1648Leu) c.*5458G>C (n.*5458G>C) c.*7694G>C (n.*7694G>C) c.4945G>C (p.Val1649Leu) c.4876G>C (p.Val1626Leu) c.4744G>C (p.Val1582Leu) c.4777G>C (p.Val1593Leu) c.1168G>C n.2827G>C c.3599G>C c.4816G>C (p.Val1606Leu) n.1127G>C n.542G>C c.4747G>C (p.Val1583Leu) c.4813G>C (p.Val1605Leu) c.4738G>C (p.Val1580Leu) n.959G>C n.2593G>C c.4870G>C (p.Val1624Leu) n.427G>C c.4741G>C (p.Val1581Leu) c.4866G>C n.3029G>C c.4939G>C (p.Val1647Leu) n.106G>C n.3760G>C n.2197G>C n.2168G>C n.2058G>C c.4600G>C (p.Val1534Leu) c.*4112G>C (n.*4112G>C) c.4636G>C (p.Val1546Leu) n.2668G>C c.1127G>C n.2060G>C c.4999G>C (p.Val1667Leu) c.4996G>C (p.Val1666Leu) c.4888G>C (p.Val1630Leu) c.4867G>C (p.Val1623Leu) c.4213G>C (p.Val1405Leu) c.5161G>C (p.Val1721Leu) c.4909G>C (p.Val1637Leu) c.3655G>C (p.Val1219Leu) | dbSNP |
| 16 | g.2086827G= | CA2202025454 | TSC2 | c.*3294G= (n.*3294G=) c.4792G= (p.Val1598=) c.4942G= (p.Val1648=) c.*5458G= (n.*5458G=) c.*7694G= (n.*7694G=) c.4945G= (p.Val1649=) c.4876G= (p.Val1626=) c.4744G= (p.Val1582=) c.4777G= (p.Val1593=) c.1168G= n.2827G= c.3599G= c.4816G= (p.Val1606=) n.1127G= n.542G= c.4747G= (p.Val1583=) c.4813G= (p.Val1605=) c.4738G= (p.Val1580=) n.959G= n.2593G= c.4870G= (p.Val1624=) n.427G= c.4741G= (p.Val1581=) c.4866G= n.3029G= c.4939G= (p.Val1647=) n.106G= n.3760G= n.2197G= n.2168G= n.2058G= c.4600G= (p.Val1534=) c.*4112G= (n.*4112G=) c.4636G= (p.Val1546=) n.2668G= c.1127G= n.2060G= c.4999G= (p.Val1667=) c.4996G= (p.Val1666=) c.4888G= (p.Val1630=) c.4867G= (p.Val1623=) c.4213G= (p.Val1405=) c.5161G= (p.Val1721=) c.4909G= (p.Val1637=) c.3655G= (p.Val1219=) | |
| 16 | g.2086827G>T | CA394308783 | TSC2 | c.*3294G>T (n.*3294G>T) c.4792G>T (p.Val1598Phe) c.4942G>T (p.Val1648Phe) c.*5458G>T (n.*5458G>T) c.*7694G>T (n.*7694G>T) c.4945G>T (p.Val1649Phe) c.4876G>T (p.Val1626Phe) c.4744G>T (p.Val1582Phe) c.4777G>T (p.Val1593Phe) c.1168G>T n.2827G>T c.3599G>T c.4816G>T (p.Val1606Phe) n.1127G>T n.542G>T c.4747G>T (p.Val1583Phe) c.4813G>T (p.Val1605Phe) c.4738G>T (p.Val1580Phe) n.959G>T n.2593G>T c.4870G>T (p.Val1624Phe) n.427G>T c.4741G>T (p.Val1581Phe) c.4866G>T n.3029G>T c.4939G>T (p.Val1647Phe) n.106G>T n.3760G>T n.2197G>T n.2168G>T n.2058G>T c.4600G>T (p.Val1534Phe) c.*4112G>T (n.*4112G>T) c.4636G>T (p.Val1546Phe) n.2668G>T c.1127G>T n.2060G>T c.4999G>T (p.Val1667Phe) c.4996G>T (p.Val1666Phe) c.4888G>T (p.Val1630Phe) c.4867G>T (p.Val1623Phe) c.4213G>T (p.Val1405Phe) c.5161G>T (p.Val1721Phe) c.4909G>T (p.Val1637Phe) c.3655G>T (p.Val1219Phe) | gnomAD v4 |
| 16 | g.2086828T>A | CA394308793 | TSC2 | c.*3295T>A (n.*3295T>A) c.4793T>A (p.Val1598Asp) c.4943T>A (p.Val1648Asp) c.*5459T>A (n.*5459T>A) c.*7695T>A (n.*7695T>A) c.4946T>A (p.Val1649Asp) c.4877T>A (p.Val1626Asp) c.4745T>A (p.Val1582Asp) c.4778T>A (p.Val1593Asp) c.1169T>A n.2828T>A c.3600T>A c.4817T>A (p.Val1606Asp) n.1128T>A n.543T>A c.4748T>A (p.Val1583Asp) c.4814T>A (p.Val1605Asp) c.4739T>A (p.Val1580Asp) n.960T>A n.2594T>A c.4871T>A (p.Val1624Asp) n.428T>A c.4742T>A (p.Val1581Asp) c.4867T>A n.3030T>A c.4940T>A (p.Val1647Asp) n.107T>A n.3761T>A n.2198T>A n.2169T>A n.2059T>A c.4601T>A (p.Val1534Asp) c.*4113T>A (n.*4113T>A) c.4637T>A (p.Val1546Asp) n.2669T>A c.1128T>A n.2061T>A c.5000T>A (p.Val1667Asp) c.4997T>A (p.Val1666Asp) c.4889T>A (p.Val1630Asp) c.4868T>A (p.Val1623Asp) c.4214T>A (p.Val1405Asp) c.5162T>A (p.Val1721Asp) c.4910T>A (p.Val1637Asp) c.3656T>A (p.Val1219Asp) | dbSNP |
| 16 | g.2086828T>C | CA394308790 | TSC2 | c.*3295T>C (n.*3295T>C) c.4793T>C (p.Val1598Ala) c.4943T>C (p.Val1648Ala) c.*5459T>C (n.*5459T>C) c.*7695T>C (n.*7695T>C) c.4946T>C (p.Val1649Ala) c.4877T>C (p.Val1626Ala) c.4745T>C (p.Val1582Ala) c.4778T>C (p.Val1593Ala) c.1169T>C n.2828T>C c.3600T>C c.4817T>C (p.Val1606Ala) n.1128T>C n.543T>C c.4748T>C (p.Val1583Ala) c.4814T>C (p.Val1605Ala) c.4739T>C (p.Val1580Ala) n.960T>C n.2594T>C c.4871T>C (p.Val1624Ala) n.428T>C c.4742T>C (p.Val1581Ala) c.4867T>C n.3030T>C c.4940T>C (p.Val1647Ala) n.107T>C n.3761T>C n.2198T>C n.2169T>C n.2059T>C c.4601T>C (p.Val1534Ala) c.*4113T>C (n.*4113T>C) c.4637T>C (p.Val1546Ala) n.2669T>C c.1128T>C n.2061T>C c.5000T>C (p.Val1667Ala) c.4997T>C (p.Val1666Ala) c.4889T>C (p.Val1630Ala) c.4868T>C (p.Val1623Ala) c.4214T>C (p.Val1405Ala) c.5162T>C (p.Val1721Ala) c.4910T>C (p.Val1637Ala) c.3656T>C (p.Val1219Ala) | dbSNP |
| 16 | g.2086828T>G | CA394308787 | TSC2 | c.*3295T>G (n.*3295T>G) c.4793T>G (p.Val1598Gly) c.4943T>G (p.Val1648Gly) c.*5459T>G (n.*5459T>G) c.*7695T>G (n.*7695T>G) c.4946T>G (p.Val1649Gly) c.4877T>G (p.Val1626Gly) c.4745T>G (p.Val1582Gly) c.4778T>G (p.Val1593Gly) c.1169T>G n.2828T>G c.3600T>G c.4817T>G (p.Val1606Gly) n.1128T>G n.543T>G c.4748T>G (p.Val1583Gly) c.4814T>G (p.Val1605Gly) c.4739T>G (p.Val1580Gly) n.960T>G n.2594T>G c.4871T>G (p.Val1624Gly) n.428T>G c.4742T>G (p.Val1581Gly) c.4867T>G n.3030T>G c.4940T>G (p.Val1647Gly) n.107T>G n.3761T>G n.2198T>G n.2169T>G n.2059T>G c.4601T>G (p.Val1534Gly) c.*4113T>G (n.*4113T>G) c.4637T>G (p.Val1546Gly) n.2669T>G c.1128T>G n.2061T>G c.5000T>G (p.Val1667Gly) c.4997T>G (p.Val1666Gly) c.4889T>G (p.Val1630Gly) c.4868T>G (p.Val1623Gly) c.4214T>G (p.Val1405Gly) c.5162T>G (p.Val1721Gly) c.4910T>G (p.Val1637Gly) c.3656T>G (p.Val1219Gly) | |
| 16 | g.2086829C>A | CA492959983 | TSC2 | c.*3296C>A (n.*3296C>A) c.4794C>A (p.Val1598=) c.4944C>A (p.Val1648=) c.*5460C>A (n.*5460C>A) c.*7696C>A (n.*7696C>A) c.4947C>A (p.Val1649=) c.4878C>A (p.Val1626=) c.4746C>A (p.Val1582=) c.4779C>A (p.Val1593=) c.1170C>A n.2829C>A c.3601C>A c.4818C>A (p.Val1606=) n.1129C>A n.544C>A c.4749C>A (p.Val1583=) c.4815C>A (p.Val1605=) c.4740C>A (p.Val1580=) n.961C>A n.2595C>A c.4872C>A (p.Val1624=) n.429C>A c.4743C>A (p.Val1581=) c.4868C>A n.3031C>A c.4941C>A (p.Val1647=) n.108C>A n.3762C>A n.2199C>A n.2170C>A n.2060C>A c.4602C>A (p.Val1534=) c.*4114C>A (n.*4114C>A) c.4638C>A (p.Val1546=) n.2670C>A c.1129C>A n.2062C>A c.5001C>A (p.Val1667=) c.4998C>A (p.Val1666=) c.4890C>A (p.Val1630=) c.4869C>A (p.Val1623=) c.4215C>A (p.Val1405=) c.5163C>A (p.Val1721=) c.4911C>A (p.Val1637=) c.3657C>A (p.Val1219=) | |
| 16 | g.2086829C= | CA2202025466 | TSC2 | c.*3296C= (n.*3296C=) c.4794C= (p.Val1598=) c.4944C= (p.Val1648=) c.*5460C= (n.*5460C=) c.*7696C= (n.*7696C=) c.4947C= (p.Val1649=) c.4878C= (p.Val1626=) c.4746C= (p.Val1582=) c.4779C= (p.Val1593=) c.1170C= n.2829C= c.3601C= c.4818C= (p.Val1606=) n.1129C= n.544C= c.4749C= (p.Val1583=) c.4815C= (p.Val1605=) c.4740C= (p.Val1580=) n.961C= n.2595C= c.4872C= (p.Val1624=) n.429C= c.4743C= (p.Val1581=) c.4868C= n.3031C= c.4941C= (p.Val1647=) n.108C= n.3762C= n.2199C= n.2170C= n.2060C= c.4602C= (p.Val1534=) c.*4114C= (n.*4114C=) c.4638C= (p.Val1546=) n.2670C= c.1129C= n.2062C= c.5001C= (p.Val1667=) c.4998C= (p.Val1666=) c.4890C= (p.Val1630=) c.4869C= (p.Val1623=) c.4215C= (p.Val1405=) c.5163C= (p.Val1721=) c.4911C= (p.Val1637=) c.3657C= (p.Val1219=) | |
| 16 | g.2086829C>G | CA053122 | TSC2 | c.*3296C>G (n.*3296C>G) c.4794C>G (p.Val1598=) c.4944C>G (p.Val1648=) c.*5460C>G (n.*5460C>G) c.*7696C>G (n.*7696C>G) c.4947C>G (p.Val1649=) c.4878C>G (p.Val1626=) c.4746C>G (p.Val1582=) c.4779C>G (p.Val1593=) c.1170C>G n.2829C>G c.3601C>G c.4818C>G (p.Val1606=) n.1129C>G n.544C>G c.4749C>G (p.Val1583=) c.4815C>G (p.Val1605=) c.4740C>G (p.Val1580=) n.961C>G n.2595C>G c.4872C>G (p.Val1624=) n.429C>G c.4743C>G (p.Val1581=) c.4868C>G n.3031C>G c.4941C>G (p.Val1647=) n.108C>G n.3762C>G n.2199C>G n.2170C>G n.2060C>G c.4602C>G (p.Val1534=) c.*4114C>G (n.*4114C>G) c.4638C>G (p.Val1546=) n.2670C>G c.1129C>G n.2062C>G c.5001C>G (p.Val1667=) c.4998C>G (p.Val1666=) c.4890C>G (p.Val1630=) c.4869C>G (p.Val1623=) c.4215C>G (p.Val1405=) c.5163C>G (p.Val1721=) c.4911C>G (p.Val1637=) c.3657C>G (p.Val1219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2086829C>T | CA492959981 | TSC2 | c.*3296C>T (n.*3296C>T) c.4794C>T (p.Val1598=) c.4944C>T (p.Val1648=) c.*5460C>T (n.*5460C>T) c.*7696C>T (n.*7696C>T) c.4947C>T (p.Val1649=) c.4878C>T (p.Val1626=) c.4746C>T (p.Val1582=) c.4779C>T (p.Val1593=) c.1170C>T n.2829C>T c.3601C>T c.4818C>T (p.Val1606=) n.1129C>T n.544C>T c.4749C>T (p.Val1583=) c.4815C>T (p.Val1605=) c.4740C>T (p.Val1580=) n.961C>T n.2595C>T c.4872C>T (p.Val1624=) n.429C>T c.4743C>T (p.Val1581=) c.4868C>T n.3031C>T c.4941C>T (p.Val1647=) n.108C>T n.3762C>T n.2199C>T n.2170C>T n.2060C>T c.4602C>T (p.Val1534=) c.*4114C>T (n.*4114C>T) c.4638C>T (p.Val1546=) n.2670C>T c.1129C>T n.2062C>T c.5001C>T (p.Val1667=) c.4998C>T (p.Val1666=) c.4890C>T (p.Val1630=) c.4869C>T (p.Val1623=) c.4215C>T (p.Val1405=) c.5163C>T (p.Val1721=) c.4911C>T (p.Val1637=) c.3657C>T (p.Val1219=) | ClinVar dbSNP |
| 16 | g.2086829_2086834dup | CA2695221659 | TSC2 | c.*3296_*3301dup (n.*3296_*3301dup) c.4794_4799dup (p.Asn1600_Asp1601insTyrAsn) c.4944_4949dup (p.Asn1650_Asp1651insTyrAsn) c.*5460_*5465dup (n.*5460_*5465dup) c.*7696_*7701dup (n.*7696_*7701dup) c.4947_4952dup (p.Asn1651_Asp1652insTyrAsn) c.4878_4883dup (p.Asn1628_Asp1629insTyrAsn) c.4746_4751dup (p.Asn1584_Asp1585insTyrAsn) c.4779_4784dup (p.Asn1595_Asp1596insTyrAsn) c.1170_1175dup n.2829_2834dup c.3601_3606dup c.4818_4823dup (p.Asn1608_Asp1609insTyrAsn) n.1129_1134dup n.544_549dup c.4749_4754dup (p.Asn1585_Asp1586insTyrAsn) c.4815_4820dup (p.Asn1607_Asp1608insTyrAsn) c.4740_4745dup (p.Asn1582_Asp1583insTyrAsn) n.961_966dup n.2595_2600dup c.4872_4877dup (p.Asn1626_Asp1627insTyrAsn) n.429_434dup c.4743_4748dup (p.Asn1583_Asp1584insTyrAsn) c.4868_4873dup n.3031_3036dup c.4941_4946dup (p.Asn1649_Asp1650insTyrAsn) n.108_113dup n.3762_3767dup n.2199_2204dup n.2170_2175dup n.2060_2065dup c.4602_4607dup (p.Asn1536_Asp1537insTyrAsn) c.*4114_*4119dup (n.*4114_*4119dup) c.4638_4643dup (p.Asn1548_Asp1549insTyrAsn) n.2670_2675dup c.1129_1134dup n.2062_2067dup c.5001_5006dup (p.Asn1669_Asp1670insTyrAsn) c.4998_5003dup (p.Asn1668_Asp1669insTyrAsn) c.4890_4895dup (p.Asn1632_Asp1633insTyrAsn) c.4869_4874dup (p.Asn1625_Asp1626insTyrAsn) c.4215_4220dup (p.Asn1407_Asp1408insTyrAsn) c.5163_5168dup (p.Asn1723_Asp1724insTyrAsn) c.4911_4916dup (p.Asn1639_Asp1640insTyrAsn) c.3657_3662dup (p.Asn1221_Asp1222insTyrAsn) | |
| 16 | g.2086830T>A | CA021371 | TSC2 | c.*3297T>A (n.*3297T>A) c.4795T>A (p.Tyr1599Asn) c.4945T>A (p.Tyr1649Asn) c.*5461T>A (n.*5461T>A) c.*7697T>A (n.*7697T>A) c.4948T>A (p.Tyr1650Asn) c.4879T>A (p.Tyr1627Asn) c.4747T>A (p.Tyr1583Asn) c.4780T>A (p.Tyr1594Asn) c.1171T>A n.2830T>A c.3602T>A c.4819T>A (p.Tyr1607Asn) n.1130T>A n.545T>A c.4750T>A (p.Tyr1584Asn) c.4816T>A (p.Tyr1606Asn) c.4741T>A (p.Tyr1581Asn) n.962T>A n.2596T>A c.4873T>A (p.Tyr1625Asn) n.430T>A c.4744T>A (p.Tyr1582Asn) c.4869T>A n.3032T>A c.4942T>A (p.Tyr1648Asn) n.109T>A n.3763T>A n.2200T>A n.2171T>A n.2061T>A c.4603T>A (p.Tyr1535Asn) c.*4115T>A (n.*4115T>A) c.4639T>A (p.Tyr1547Asn) n.2671T>A c.1130T>A n.2063T>A c.5002T>A (p.Tyr1668Asn) c.4999T>A (p.Tyr1667Asn) c.4891T>A (p.Tyr1631Asn) c.4870T>A (p.Tyr1624Asn) c.4216T>A (p.Tyr1406Asn) c.5164T>A (p.Tyr1722Asn) c.4912T>A (p.Tyr1638Asn) c.3658T>A (p.Tyr1220Asn) | ClinVar dbSNP |
| 16 | g.2086830T>C | CA394308813 | TSC2 | c.*3297T>C (n.*3297T>C) c.4795T>C (p.Tyr1599His) c.4945T>C (p.Tyr1649His) c.*5461T>C (n.*5461T>C) c.*7697T>C (n.*7697T>C) c.4948T>C (p.Tyr1650His) c.4879T>C (p.Tyr1627His) c.4747T>C (p.Tyr1583His) c.4780T>C (p.Tyr1594His) c.1171T>C n.2830T>C c.3602T>C c.4819T>C (p.Tyr1607His) n.1130T>C n.545T>C c.4750T>C (p.Tyr1584His) c.4816T>C (p.Tyr1606His) c.4741T>C (p.Tyr1581His) n.962T>C n.2596T>C c.4873T>C (p.Tyr1625His) n.430T>C c.4744T>C (p.Tyr1582His) c.4869T>C n.3032T>C c.4942T>C (p.Tyr1648His) n.109T>C n.3763T>C n.2200T>C n.2171T>C n.2061T>C c.4603T>C (p.Tyr1535His) c.*4115T>C (n.*4115T>C) c.4639T>C (p.Tyr1547His) n.2671T>C c.1130T>C n.2063T>C c.5002T>C (p.Tyr1668His) c.4999T>C (p.Tyr1667His) c.4891T>C (p.Tyr1631His) c.4870T>C (p.Tyr1624His) c.4216T>C (p.Tyr1406His) c.5164T>C (p.Tyr1722His) c.4912T>C (p.Tyr1638His) c.3658T>C (p.Tyr1220His) | dbSNP |
| 16 | g.2086830T>G | CA394308816 | TSC2 | c.*3297T>G (n.*3297T>G) c.4795T>G (p.Tyr1599Asp) c.4945T>G (p.Tyr1649Asp) c.*5461T>G (n.*5461T>G) c.*7697T>G (n.*7697T>G) c.4948T>G (p.Tyr1650Asp) c.4879T>G (p.Tyr1627Asp) c.4747T>G (p.Tyr1583Asp) c.4780T>G (p.Tyr1594Asp) c.1171T>G n.2830T>G c.3602T>G c.4819T>G (p.Tyr1607Asp) n.1130T>G n.545T>G c.4750T>G (p.Tyr1584Asp) c.4816T>G (p.Tyr1606Asp) c.4741T>G (p.Tyr1581Asp) n.962T>G n.2596T>G c.4873T>G (p.Tyr1625Asp) n.430T>G c.4744T>G (p.Tyr1582Asp) c.4869T>G n.3032T>G c.4942T>G (p.Tyr1648Asp) n.109T>G n.3763T>G n.2200T>G n.2171T>G n.2061T>G c.4603T>G (p.Tyr1535Asp) c.*4115T>G (n.*4115T>G) c.4639T>G (p.Tyr1547Asp) n.2671T>G c.1130T>G n.2063T>G c.5002T>G (p.Tyr1668Asp) c.4999T>G (p.Tyr1667Asp) c.4891T>G (p.Tyr1631Asp) c.4870T>G (p.Tyr1624Asp) c.4216T>G (p.Tyr1406Asp) c.5164T>G (p.Tyr1722Asp) c.4912T>G (p.Tyr1638Asp) c.3658T>G (p.Tyr1220Asp) | |
| 16 | g.2086830T= | CA2202025475 | TSC2 | c.*3297T= (n.*3297T=) c.4795T= (p.Tyr1599=) c.4945T= (p.Tyr1649=) c.*5461T= (n.*5461T=) c.*7697T= (n.*7697T=) c.4948T= (p.Tyr1650=) c.4879T= (p.Tyr1627=) c.4747T= (p.Tyr1583=) c.4780T= (p.Tyr1594=) c.1171T= n.2830T= c.3602T= c.4819T= (p.Tyr1607=) n.1130T= n.545T= c.4750T= (p.Tyr1584=) c.4816T= (p.Tyr1606=) c.4741T= (p.Tyr1581=) n.962T= n.2596T= c.4873T= (p.Tyr1625=) n.430T= c.4744T= (p.Tyr1582=) c.4869T= n.3032T= c.4942T= (p.Tyr1648=) n.109T= n.3763T= n.2200T= n.2171T= n.2061T= c.4603T= (p.Tyr1535=) c.*4115T= (n.*4115T=) c.4639T= (p.Tyr1547=) n.2671T= c.1130T= n.2063T= c.5002T= (p.Tyr1668=) c.4999T= (p.Tyr1667=) c.4891T= (p.Tyr1631=) c.4870T= (p.Tyr1624=) c.4216T= (p.Tyr1406=) c.5164T= (p.Tyr1722=) c.4912T= (p.Tyr1638=) c.3658T= (p.Tyr1220=) | |
| 16 | g.2086831A= | CA2202025485 | TSC2 | c.*3298A= (n.*3298A=) c.4796A= (p.Tyr1599=) c.4946A= (p.Tyr1649=) c.*5462A= (n.*5462A=) c.*7698A= (n.*7698A=) c.4949A= (p.Tyr1650=) c.4880A= (p.Tyr1627=) c.4748A= (p.Tyr1583=) c.4781A= (p.Tyr1594=) c.1172A= n.2831A= c.3603A= c.4820A= (p.Tyr1607=) n.1131A= n.546A= c.4751A= (p.Tyr1584=) c.4817A= (p.Tyr1606=) c.4742A= (p.Tyr1581=) n.963A= n.2597A= c.4874A= (p.Tyr1625=) n.431A= c.4745A= (p.Tyr1582=) c.4870A= n.3033A= c.4943A= (p.Tyr1648=) n.110A= n.3764A= n.2201A= n.2172A= n.2062A= c.4604A= (p.Tyr1535=) c.*4116A= (n.*4116A=) c.4640A= (p.Tyr1547=) n.2672A= c.1131A= n.2064A= c.5003A= (p.Tyr1668=) c.5000A= (p.Tyr1667=) c.4892A= (p.Tyr1631=) c.4871A= (p.Tyr1624=) c.4217A= (p.Tyr1406=) c.5165A= (p.Tyr1722=) c.4913A= (p.Tyr1638=) c.3659A= (p.Tyr1220=) | |
| 16 | g.2086831A>C | CA394308817 | TSC2 | c.*3298A>C (n.*3298A>C) c.4796A>C (p.Tyr1599Ser) c.4946A>C (p.Tyr1649Ser) c.*5462A>C (n.*5462A>C) c.*7698A>C (n.*7698A>C) c.4949A>C (p.Tyr1650Ser) c.4880A>C (p.Tyr1627Ser) c.4748A>C (p.Tyr1583Ser) c.4781A>C (p.Tyr1594Ser) c.1172A>C n.2831A>C c.3603A>C c.4820A>C (p.Tyr1607Ser) n.1131A>C n.546A>C c.4751A>C (p.Tyr1584Ser) c.4817A>C (p.Tyr1606Ser) c.4742A>C (p.Tyr1581Ser) n.963A>C n.2597A>C c.4874A>C (p.Tyr1625Ser) n.431A>C c.4745A>C (p.Tyr1582Ser) c.4870A>C n.3033A>C c.4943A>C (p.Tyr1648Ser) n.110A>C n.3764A>C n.2201A>C n.2172A>C n.2062A>C c.4604A>C (p.Tyr1535Ser) c.*4116A>C (n.*4116A>C) c.4640A>C (p.Tyr1547Ser) n.2672A>C c.1131A>C n.2064A>C c.5003A>C (p.Tyr1668Ser) c.5000A>C (p.Tyr1667Ser) c.4892A>C (p.Tyr1631Ser) c.4871A>C (p.Tyr1624Ser) c.4217A>C (p.Tyr1406Ser) c.5165A>C (p.Tyr1722Ser) c.4913A>C (p.Tyr1638Ser) c.3659A>C (p.Tyr1220Ser) | ClinVar dbSNP |
| 16 | g.2086831A>G | CA021378 | TSC2 | c.*3298A>G (n.*3298A>G) c.4796A>G (p.Tyr1599Cys) c.4946A>G (p.Tyr1649Cys) c.*5462A>G (n.*5462A>G) c.*7698A>G (n.*7698A>G) c.4949A>G (p.Tyr1650Cys) c.4880A>G (p.Tyr1627Cys) c.4748A>G (p.Tyr1583Cys) c.4781A>G (p.Tyr1594Cys) c.1172A>G n.2831A>G c.3603A>G c.4820A>G (p.Tyr1607Cys) n.1131A>G n.546A>G c.4751A>G (p.Tyr1584Cys) c.4817A>G (p.Tyr1606Cys) c.4742A>G (p.Tyr1581Cys) n.963A>G n.2597A>G c.4874A>G (p.Tyr1625Cys) n.431A>G c.4745A>G (p.Tyr1582Cys) c.4870A>G n.3033A>G c.4943A>G (p.Tyr1648Cys) n.110A>G n.3764A>G n.2201A>G n.2172A>G n.2062A>G c.4604A>G (p.Tyr1535Cys) c.*4116A>G (n.*4116A>G) c.4640A>G (p.Tyr1547Cys) n.2672A>G c.1131A>G n.2064A>G c.5003A>G (p.Tyr1668Cys) c.5000A>G (p.Tyr1667Cys) c.4892A>G (p.Tyr1631Cys) c.4871A>G (p.Tyr1624Cys) c.4217A>G (p.Tyr1406Cys) c.5165A>G (p.Tyr1722Cys) c.4913A>G (p.Tyr1638Cys) c.3659A>G (p.Tyr1220Cys) | ClinVar dbSNP |
| 16 | g.2086831A>T | CA394308830 | TSC2 | c.*3298A>T (n.*3298A>T) c.4796A>T (p.Tyr1599Phe) c.4946A>T (p.Tyr1649Phe) c.*5462A>T (n.*5462A>T) c.*7698A>T (n.*7698A>T) c.4949A>T (p.Tyr1650Phe) c.4880A>T (p.Tyr1627Phe) c.4748A>T (p.Tyr1583Phe) c.4781A>T (p.Tyr1594Phe) c.1172A>T n.2831A>T c.3603A>T c.4820A>T (p.Tyr1607Phe) n.1131A>T n.546A>T c.4751A>T (p.Tyr1584Phe) c.4817A>T (p.Tyr1606Phe) c.4742A>T (p.Tyr1581Phe) n.963A>T n.2597A>T c.4874A>T (p.Tyr1625Phe) n.431A>T c.4745A>T (p.Tyr1582Phe) c.4870A>T n.3033A>T c.4943A>T (p.Tyr1648Phe) n.110A>T n.3764A>T n.2201A>T n.2172A>T n.2062A>T c.4604A>T (p.Tyr1535Phe) c.*4116A>T (n.*4116A>T) c.4640A>T (p.Tyr1547Phe) n.2672A>T c.1131A>T n.2064A>T c.5003A>T (p.Tyr1668Phe) c.5000A>T (p.Tyr1667Phe) c.4892A>T (p.Tyr1631Phe) c.4871A>T (p.Tyr1624Phe) c.4217A>T (p.Tyr1406Phe) c.5165A>T (p.Tyr1722Phe) c.4913A>T (p.Tyr1638Phe) c.3659A>T (p.Tyr1220Phe) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2086832C>A | CA394308832 | TSC2 | c.*3299C>A (n.*3299C>A) c.4797C>A (p.Tyr1599Ter) c.4947C>A (p.Tyr1649Ter) c.*5463C>A (n.*5463C>A) c.*7699C>A (n.*7699C>A) c.4950C>A (p.Tyr1650Ter) c.4881C>A (p.Tyr1627Ter) c.4749C>A (p.Tyr1583Ter) c.4782C>A (p.Tyr1594Ter) c.1173C>A n.2832C>A c.3604C>A c.4821C>A (p.Tyr1607Ter) n.1132C>A n.547C>A c.4752C>A (p.Tyr1584Ter) c.4818C>A (p.Tyr1606Ter) c.4743C>A (p.Tyr1581Ter) n.964C>A n.2598C>A c.4875C>A (p.Tyr1625Ter) n.432C>A c.4746C>A (p.Tyr1582Ter) c.4871C>A n.3034C>A c.4944C>A (p.Tyr1648Ter) n.111C>A n.3765C>A n.2202C>A n.2173C>A n.2063C>A c.4605C>A (p.Tyr1535Ter) c.*4117C>A (n.*4117C>A) c.4641C>A (p.Tyr1547Ter) n.2673C>A c.1132C>A n.2065C>A c.5004C>A (p.Tyr1668Ter) c.5001C>A (p.Tyr1667Ter) c.4893C>A (p.Tyr1631Ter) c.4872C>A (p.Tyr1624Ter) c.4218C>A (p.Tyr1406Ter) c.5166C>A (p.Tyr1722Ter) c.4914C>A (p.Tyr1638Ter) c.3660C>A (p.Tyr1220Ter) | |
| 16 | g.2086832C= | CA2202025517 | TSC2 | c.*3299C= (n.*3299C=) c.4797C= (p.Tyr1599=) c.4947C= (p.Tyr1649=) c.*5463C= (n.*5463C=) c.*7699C= (n.*7699C=) c.4950C= (p.Tyr1650=) c.4881C= (p.Tyr1627=) c.4749C= (p.Tyr1583=) c.4782C= (p.Tyr1594=) c.1173C= n.2832C= c.3604C= c.4821C= (p.Tyr1607=) n.1132C= n.547C= c.4752C= (p.Tyr1584=) c.4818C= (p.Tyr1606=) c.4743C= (p.Tyr1581=) n.964C= n.2598C= c.4875C= (p.Tyr1625=) n.432C= c.4746C= (p.Tyr1582=) c.4871C= n.3034C= c.4944C= (p.Tyr1648=) n.111C= n.3765C= n.2202C= n.2173C= n.2063C= c.4605C= (p.Tyr1535=) c.*4117C= (n.*4117C=) c.4641C= (p.Tyr1547=) n.2673C= c.1132C= n.2065C= c.5004C= (p.Tyr1668=) c.5001C= (p.Tyr1667=) c.4893C= (p.Tyr1631=) c.4872C= (p.Tyr1624=) c.4218C= (p.Tyr1406=) c.5166C= (p.Tyr1722=) c.4914C= (p.Tyr1638=) c.3660C= (p.Tyr1220=) | |
| 16 | g.2086832C>G | CA394308833 | TSC2 | c.*3299C>G (n.*3299C>G) c.4797C>G (p.Tyr1599Ter) c.4947C>G (p.Tyr1649Ter) c.*5463C>G (n.*5463C>G) c.*7699C>G (n.*7699C>G) c.4950C>G (p.Tyr1650Ter) c.4881C>G (p.Tyr1627Ter) c.4749C>G (p.Tyr1583Ter) c.4782C>G (p.Tyr1594Ter) c.1173C>G n.2832C>G c.3604C>G c.4821C>G (p.Tyr1607Ter) n.1132C>G n.547C>G c.4752C>G (p.Tyr1584Ter) c.4818C>G (p.Tyr1606Ter) c.4743C>G (p.Tyr1581Ter) n.964C>G n.2598C>G c.4875C>G (p.Tyr1625Ter) n.432C>G c.4746C>G (p.Tyr1582Ter) c.4871C>G n.3034C>G c.4944C>G (p.Tyr1648Ter) n.111C>G n.3765C>G n.2202C>G n.2173C>G n.2063C>G c.4605C>G (p.Tyr1535Ter) c.*4117C>G (n.*4117C>G) c.4641C>G (p.Tyr1547Ter) n.2673C>G c.1132C>G n.2065C>G c.5004C>G (p.Tyr1668Ter) c.5001C>G (p.Tyr1667Ter) c.4893C>G (p.Tyr1631Ter) c.4872C>G (p.Tyr1624Ter) c.4218C>G (p.Tyr1406Ter) c.5166C>G (p.Tyr1722Ter) c.4914C>G (p.Tyr1638Ter) c.3660C>G (p.Tyr1220Ter) | ClinVar dbSNP |
| 16 | g.2086832C>T | CA492959990 | TSC2 | c.*3299C>T (n.*3299C>T) c.4797C>T (p.Tyr1599=) c.4947C>T (p.Tyr1649=) c.*5463C>T (n.*5463C>T) c.*7699C>T (n.*7699C>T) c.4950C>T (p.Tyr1650=) c.4881C>T (p.Tyr1627=) c.4749C>T (p.Tyr1583=) c.4782C>T (p.Tyr1594=) c.1173C>T n.2832C>T c.3604C>T c.4821C>T (p.Tyr1607=) n.1132C>T n.547C>T c.4752C>T (p.Tyr1584=) c.4818C>T (p.Tyr1606=) c.4743C>T (p.Tyr1581=) n.964C>T n.2598C>T c.4875C>T (p.Tyr1625=) n.432C>T c.4746C>T (p.Tyr1582=) c.4871C>T n.3034C>T c.4944C>T (p.Tyr1648=) n.111C>T n.3765C>T n.2202C>T n.2173C>T n.2063C>T c.4605C>T (p.Tyr1535=) c.*4117C>T (n.*4117C>T) c.4641C>T (p.Tyr1547=) n.2673C>T c.1132C>T n.2065C>T c.5004C>T (p.Tyr1668=) c.5001C>T (p.Tyr1667=) c.4893C>T (p.Tyr1631=) c.4872C>T (p.Tyr1624=) c.4218C>T (p.Tyr1406=) c.5166C>T (p.Tyr1722=) c.4914C>T (p.Tyr1638=) c.3660C>T (p.Tyr1220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |