| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143320714G>T | CA4536919 | CLCN1 | c.352G>T (p.Gly118Trp) c.120G>T c.59G>T (p.Arg20Leu) n.454G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143320714G>C | CA369682144 | CLCN1 | c.352G>C (p.Gly118Arg) c.120G>C c.59G>C (p.Arg20Pro) n.454G>C | dbSNP gnomAD v4 |
| 7 | g.143320714G= | CA658657733 | CLCN1 | c.352G= (p.Gly118=) c.120G= c.59G= (p.Arg20=) n.454G= | dbSNP |