| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215878891G>T | CA262120 | USH2A | c.8431C>A (p.Pro2811Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878891G>A | CA344831089 | USH2A | c.8431C>T (p.Pro2811Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215878891G= | CA1141189303 | USH2A | c.8431C= (p.Pro2811=) | dbSNP |
| 1 | g.215878891G>C | CA344831088 | USH2A | c.8431C>G (p.Pro2811Ala) | dbSNP |