| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215674781G>A | CA37412700 | USH2A | c.13130C>T (p.Ser4377Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674781G>T | CA262084 | USH2A | c.13130C>A (p.Ser4377Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674781G>C | CA344846468 | USH2A | c.13130C>G (p.Ser4377Ter) | dbSNP |
| 1 | g.215674781G= | CA1141189263 | USH2A | c.13130C= (p.Ser4377=) | dbSNP |