| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17527331C>T | CA142377 | USH1C | c.388G>A (p.Val130Ile) c.421G>A (p.Val141Ile) c.295G>A (p.Val99Ile) n.497G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17527331C>A | CA379795361 | USH1C | c.388G>T (p.Val130Leu) c.421G>T (p.Val141Leu) c.295G>T (p.Val99Leu) n.497G>T | dbSNP gnomAD v4 |
| 11 | g.17527331C= | CA1955187115 | USH1C | c.388G= (p.Val130=) c.421G= (p.Val141=) c.295G= (p.Val99=) n.497G= | dbSNP |