| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.74919463T>A | CA262040 | USH1G | c.1373A>T (p.Asp458Val) c.*972A>T (n.*972A>T) c.1064A>T (p.Asp355Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919463T>C | CA400960999 | USH1G | c.1373A>G (p.Asp458Gly) c.*972A>G (n.*972A>G) c.1064A>G (p.Asp355Gly) | dbSNP gnomAD v4 |
| 17 | g.74919463T= | CA2275255083 | USH1G | c.1373A= (p.Asp458=) c.*972A= (n.*972A=) c.1064A= (p.Asp355=) | dbSNP |