| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41692865G>A | CA4727808 | ANK1 | c.3764C>T (p.Ser1255Leu) c.3860C>T (p.Ser1287Leu) c.3677C>T (p.Ser1226Leu) c.3641C>T (p.Ser1214Leu) c.141C>T c.1605C>T n.510C>T n.1124C>T c.3761C>T (p.Ser1254Leu) c.3740C>T (p.Ser1247Leu) n.3879C>T c.3836C>T (p.Ser1279Leu) c.3773C>T (p.Ser1258Leu) c.3665C>T (p.Ser1222Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.41692865G= | CA1779071721 | ANK1 | c.3764C= (p.Ser1255=) c.3860C= (p.Ser1287=) c.3677C= (p.Ser1226=) c.3641C= (p.Ser1214=) c.141C= c.1605C= n.510C= n.1124C= c.3761C= (p.Ser1254=) c.3740C= (p.Ser1247=) n.3879C= c.3836C= (p.Ser1279=) c.3773C= (p.Ser1258=) c.3665C= (p.Ser1222=) | dbSNP |