| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17531233C>G | CA218464934 | USH1C | c.308G>C (p.Arg103Pro) c.341G>C (p.Arg114Pro) c.215G>C (p.Arg72Pro) n.417G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17531233C>A | CA5905098 | USH1C | c.308G>T (p.Arg103Leu) c.341G>T (p.Arg114Leu) c.215G>T (p.Arg72Leu) n.417G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17531233C>T | CA261116 | USH1C | c.308G>A (p.Arg103His) c.341G>A (p.Arg114His) c.215G>A (p.Arg72His) n.417G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17531233C= | CA1955180437 | USH1C | c.308G= (p.Arg103=) c.341G= (p.Arg114=) c.215G= (p.Arg72=) n.417G= | dbSNP dbSNP |