| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.49936289G>T | CA8961301 | MYO5B | c.1763C>A c.1966C>A (p.Arg656Ser) c.1906+57C>A (n.1906+57C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.49936289G>C | CA8961302 | MYO5B | c.1763C>G c.1966C>G (p.Arg656Gly) c.1906+57C>G (n.1906+57C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.49936289G>A | CA116745 | MYO5B | c.1763C>T c.1966C>T (p.Arg656Cys) c.1906+57C>T (n.1906+57C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |