| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166306531G>A | CA1944791 | SCN9A | c.446C>T (p.Pro149Leu) n.801C>T c.*189C>T (n.*189C>T) c.41C>T (p.Pro14Leu) c.59C>T (p.Pro20Leu) n.760C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166306531G>T | CA118173 | SCN9A | c.446C>A (p.Pro149Gln) n.801C>A c.*189C>A (n.*189C>A) c.41C>A (p.Pro14Gln) c.59C>A (p.Pro20Gln) n.760C>A | ClinVar dbSNP gnomAD v4 |