| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71785667G>A | CA16609572 | CDH23 | c.5749G>A (p.Glu1917Lys) c.5764G>A (p.Glu1922Lys) c.5944G>A (p.Glu1982Lys) c.5878G>A (p.Glu1960Lys) c.5941G>A (p.Glu1981Lys) c.5938G>A (p.Glu1980Lys) c.5884G>A (p.Glu1962Lys) c.5809G>A (p.Glu1937Lys) c.5404G>A (p.Glu1802Lys) c.4762G>A (p.Glu1588Lys) c.2272G>A (p.Glu758Lys) n.6187G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71785667G>C | CA377147715 | CDH23 | c.5749G>C (p.Glu1917Gln) c.5764G>C (p.Glu1922Gln) c.5944G>C (p.Glu1982Gln) c.5878G>C (p.Glu1960Gln) c.5941G>C (p.Glu1981Gln) c.5938G>C (p.Glu1980Gln) c.5884G>C (p.Glu1962Gln) c.5809G>C (p.Glu1937Gln) c.5404G>C (p.Glu1802Gln) c.4762G>C (p.Glu1588Gln) c.2272G>C (p.Glu758Gln) n.6187G>C | dbSNP gnomAD v3 gnomAD v4 |