| 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 |
