| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38872215A>G | CA171012 | SCN11A | c.3473T>C (p.Leu1158Pro) c.3527T>C (n.3527T>C) c.3293T>C (p.Leu1098Pro) c.3517T>C (n.3517T>C) c.3092T>C (p.Leu1031Pro) c.3359T>C (p.Leu1120Pro) c.2810T>C (p.Leu937Pro) c.2021T>C (p.Leu674Pro) c.3848T>C (p.Leu1283Pro) c.3275T>C (p.Leu1092Pro) c.3200T>C (p.Leu1067Pro) c.1877T>C (p.Leu626Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38872215A= | CA1358707889 | SCN11A | c.3473T= (p.Leu1158=) c.3527T= (n.3527T=) c.3293T= (p.Leu1098=) c.3517T= (n.3517T=) c.3092T= (p.Leu1031=) c.3359T= (p.Leu1120=) c.2810T= (p.Leu937=) c.2021T= (p.Leu674=) c.3848T= (p.Leu1283=) c.3275T= (p.Leu1092=) c.3200T= (p.Leu1067=) c.1877T= (p.Leu626=) | dbSNP |