| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143342001A>G | CA127249 | CLCN1 | c.1655A>G (p.Gln552Arg) c.1479A>G n.1595A>G c.1679A>G (p.Gln560Arg) c.401A>G (p.Gln134Arg) c.1229A>G (p.Gln410Arg) c.1205A>G (p.Gln402Arg) n.1610A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143342001A>T | CA4537445 | CLCN1 | c.1655A>T (p.Gln552Leu) c.1479A>T n.1595A>T c.1679A>T (p.Gln560Leu) c.401A>T (p.Gln134Leu) c.1229A>T (p.Gln410Leu) c.1205A>T (p.Gln402Leu) n.1610A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143342001A= | CA1748893935 | CLCN1 | c.1655A= (p.Gln552=) c.1479A= n.1595A= c.1679A= (p.Gln560=) c.401A= (p.Gln134=) c.1229A= (p.Gln410=) c.1205A= (p.Gln402=) n.1610A= | dbSNP |