Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17498195C>G | CA142347 | USH1C | c.2457G>C (p.Glu819Asp) c.1557G>C (p.Glu519Asp) c.*271G>C (n.*271G>C) c.1500G>C (p.Glu500Asp) c.1464G>C (p.Glu488Asp) n.441G>C n.1592G>C c.2481G>C (p.Glu827Asp) c.1710G>C (p.Glu570Asp) n.1716G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17498195C>A | CA218483070 | USH1C | c.2457G>T (p.Glu819Asp) c.1557G>T (p.Glu519Asp) c.*271G>T (n.*271G>T) c.1500G>T (p.Glu500Asp) c.1464G>T (p.Glu488Asp) n.441G>T n.1592G>T c.2481G>T (p.Glu827Asp) c.1710G>T (p.Glu570Asp) n.1716G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |