| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166477575G>A | CA349245767 | SCN7A | c.122C>T (p.Thr41Ile) n.252C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166477575G>C | CA349245766 | SCN7A | c.122C>G (p.Thr41Ser) n.252C>G | dbSNP |
| 2 | g.166477575G>T | CA1946017 | SCN7A | c.122C>A (p.Thr41Asn) n.252C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |