| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38723507A>T | CA352156325 | SCN10A | c.3275T>A (p.Leu1092Gln) c.3272T>A (p.Leu1091Gln) c.3299T>A (p.Leu1100Gln) c.2981T>A (p.Leu994Gln) c.3284T>A (p.Leu1095Gln) c.3281T>A (p.Leu1094Gln) c.2990T>A (p.Leu997Gln) | dbSNP |
| 3 | g.38723507A>G | CA2320282 | SCN10A | c.3275T>C (p.Leu1092Pro) c.3272T>C (p.Leu1091Pro) c.3299T>C (p.Leu1100Pro) c.2981T>C (p.Leu994Pro) c.3284T>C (p.Leu1095Pro) c.3281T>C (p.Leu1094Pro) c.2990T>C (p.Leu997Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38723507A= | CA1358639748 | SCN10A | c.3275T= (p.Leu1092=) c.3272T= (p.Leu1091=) c.3299T= (p.Leu1100=) c.2981T= (p.Leu994=) c.3284T= (p.Leu1095=) c.3281T= (p.Leu1094=) c.2990T= (p.Leu997=) | dbSNP dbSNP |