| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156683C>T | CA278676 | MYO7A | c.494C>T (p.Thr165Met) c.461C>T (p.Thr154Met) c.236C>T (p.Thr79Met) n.814C>T n.816C>T c.584C>T (p.Thr195Met) n.599C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77156683C>G | CA381931785 | MYO7A | c.494C>G (p.Thr165Arg) c.461C>G (p.Thr154Arg) c.236C>G (p.Thr79Arg) n.814C>G n.816C>G c.584C>G (p.Thr195Arg) n.599C>G | dbSNP |
| 11 | g.77156683C= | CA1984095185 | MYO7A | c.494C= (p.Thr165=) c.461C= (p.Thr154=) c.236C= (p.Thr79=) n.814C= n.816C= c.584C= (p.Thr195=) n.599C= | dbSNP |
| 11 | g.77156683C>A | CA381931784 | MYO7A | c.494C>A (p.Thr165Lys) c.461C>A (p.Thr154Lys) c.236C>A (p.Thr79Lys) n.814C>A n.816C>A c.584C>A (p.Thr195Lys) n.599C>A | ClinVar dbSNP gnomAD v4 |