| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77190113C>T | CA16042854 | MYO7A | c.3724C>T (p.Gln1242Ter) c.1565C>T c.3691C>T (p.Gln1231Ter) c.1267C>T (p.Gln423Ter) n.251C>T n.1267C>T c.3634C>T (p.Gln1212Ter) c.3505C>T (p.Gln1169Ter) c.3493C>T (p.Gln1165Ter) c.3466C>T (p.Gln1156Ter) n.4044C>T n.4046C>T c.3814C>T (p.Gln1272Ter) c.3583C>T (p.Gln1195Ter) n.3829C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77190113C= | CA1984123226 | MYO7A | c.3724C= (p.Gln1242=) c.1565C= c.3691C= (p.Gln1231=) c.1267C= (p.Gln423=) n.251C= n.1267C= c.3634C= (p.Gln1212=) c.3505C= (p.Gln1169=) c.3493C= (p.Gln1165=) c.3466C= (p.Gln1156=) n.4044C= n.4046C= c.3814C= (p.Gln1272=) c.3583C= (p.Gln1195=) n.3829C= | dbSNP |