| 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 |
| 10 | g.71785667G= | CA1918863611 | CDH23 | c.5749G= (p.Glu1917=) c.5764G= (p.Glu1922=) c.5944G= (p.Glu1982=) c.5878G= (p.Glu1960=) c.5941G= (p.Glu1981=) c.5938G= (p.Glu1980=) c.5884G= (p.Glu1962=) c.5809G= (p.Glu1937=) c.5404G= (p.Glu1802=) c.4762G= (p.Glu1588=) c.2272G= (p.Glu758=) n.6187G= | dbSNP |
| 10 | g.71785667G>T | CA377147716 | CDH23 | c.5749G>T (p.Glu1917Ter) c.5764G>T (p.Glu1922Ter) c.5944G>T (p.Glu1982Ter) c.5878G>T (p.Glu1960Ter) c.5941G>T (p.Glu1981Ter) c.5938G>T (p.Glu1980Ter) c.5884G>T (p.Glu1962Ter) c.5809G>T (p.Glu1937Ter) c.5404G>T (p.Glu1802Ter) c.4762G>T (p.Glu1588Ter) c.2272G>T (p.Glu758Ter) n.6187G>T | dbSNP gnomAD v4 COSMIC |