| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143339263C>T | CA341535 | CLCN1 | c.1412C>T (p.Ser471Phe) c.1236C>T n.1352C>T c.1436C>T (p.Ser479Phe) c.158C>T (p.Ser53Phe) c.986C>T (p.Ser329Phe) c.962C>T (p.Ser321Phe) n.1367C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.143339263C= | CA1748892757 | CLCN1 | c.1412C= (p.Ser471=) c.1236C= n.1352C= c.1436C= (p.Ser479=) c.158C= (p.Ser53=) c.986C= (p.Ser329=) c.962C= (p.Ser321=) n.1367C= | dbSNP |
| 7 | g.143339263C>A | CA369645254 | CLCN1 | c.1412C>A (p.Ser471Tyr) c.1236C>A n.1352C>A c.1436C>A (p.Ser479Tyr) c.158C>A (p.Ser53Tyr) c.986C>A (p.Ser329Tyr) c.962C>A (p.Ser321Tyr) n.1367C>A | dbSNP gnomAD v4 |