| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17533268G>T | CA473302751 | USH1C | c.91C>A (p.Arg31=) c.124C>A (p.Arg42=) c.-3C>A (n.-3C>A) n.200C>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.17533268G>A | CA253419 | USH1C | c.91C>T (p.Arg31Ter) c.124C>T (p.Arg42Ter) c.-3C>T (n.-3C>T) n.200C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17533268G>C | CA5905186 | USH1C | c.91C>G (p.Arg31Gly) c.124C>G (p.Arg42Gly) c.-3C>G (n.-3C>G) n.200C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |