| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.10213734G>T | CA412041542 | CLCN4 | c.1630G>T (p.Gly544Trp) c.1654G>T (p.Gly552Trp) c.1348G>T (p.Gly450Trp) c.*1404G>T (n.*1404G>T) c.1537G>T (p.Gly513Trp) | dbSNP COSMIC |
| X | g.10213734G>C | CA10576002 | CLCN4 | c.1630G>C (p.Gly544Arg) c.1654G>C (p.Gly552Arg) c.1348G>C (p.Gly450Arg) c.*1404G>C (n.*1404G>C) c.1537G>C (p.Gly513Arg) | ClinVar dbSNP |
| X | g.10213734G>A | CA228961 | CLCN4 | c.1630G>A (p.Gly544Arg) c.1654G>A (p.Gly552Arg) c.1348G>A (p.Gly450Arg) c.*1404G>A (n.*1404G>A) c.1537G>A (p.Gly513Arg) | ClinVar dbSNP COSMIC |
| X | g.10213734G= | CA2415190534 | CLCN4 | c.1630G= (p.Gly544=) c.1654G= (p.Gly552=) c.1348G= (p.Gly450=) c.*1404G= (n.*1404G=) c.1537G= (p.Gly513=) | dbSNP |