| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77174825C>T | CA278640 | MYO7A | c.2005C>T (p.Arg669Ter) c.70C>T (p.Arg24Ter) c.1972C>T (p.Arg658Ter) c.1774C>T (p.Arg592Ter) c.1747C>T (p.Arg583Ter) n.2325C>T n.2327C>T c.2095C>T (p.Arg699Ter) c.1864C>T (p.Arg622Ter) n.2110C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77174825C>A | CA6197662 | MYO7A | c.2005C>A (p.Arg669=) c.70C>A (p.Arg24=) c.1972C>A (p.Arg658=) c.1774C>A (p.Arg592=) c.1747C>A (p.Arg583=) n.2325C>A n.2327C>A c.2095C>A (p.Arg699=) c.1864C>A (p.Arg622=) n.2110C>A | dbSNP ExAC gnomAD v2 |
| 11 | g.77174825C>G | CA381939296 | MYO7A | c.2005C>G (p.Arg669Gly) c.70C>G (p.Arg24Gly) c.1972C>G (p.Arg658Gly) c.1774C>G (p.Arg592Gly) c.1747C>G (p.Arg583Gly) n.2325C>G n.2327C>G c.2095C>G (p.Arg699Gly) c.1864C>G (p.Arg622Gly) n.2110C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |