| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71779316G>A | CA253321 | CDH23 | c.5237G>A (p.Arg1746Gln) c.5252G>A (p.Arg1751Gln) c.5432G>A (p.Arg1811Gln) c.5366G>A (p.Arg1789Gln) c.5429G>A (p.Arg1810Gln) c.5426G>A (p.Arg1809Gln) c.5372G>A (p.Arg1791Gln) c.5297G>A (p.Arg1766Gln) c.4892G>A (p.Arg1631Gln) c.4250G>A (p.Arg1417Gln) c.1760G>A (p.Arg587Gln) n.5675G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71779316G>C | CA377142659 | CDH23 | c.5237G>C (p.Arg1746Pro) c.5252G>C (p.Arg1751Pro) c.5432G>C (p.Arg1811Pro) c.5366G>C (p.Arg1789Pro) c.5429G>C (p.Arg1810Pro) c.5426G>C (p.Arg1809Pro) c.5372G>C (p.Arg1791Pro) c.5297G>C (p.Arg1766Pro) c.4892G>C (p.Arg1631Pro) c.4250G>C (p.Arg1417Pro) c.1760G>C (p.Arg587Pro) n.5675G>C | dbSNP |
| 10 | g.71779316G= | CA1918875380 | CDH23 | c.5237G= (p.Arg1746=) c.5252G= (p.Arg1751=) c.5432G= (p.Arg1811=) c.5366G= (p.Arg1789=) c.5429G= (p.Arg1810=) c.5426G= (p.Arg1809=) c.5372G= (p.Arg1791=) c.5297G= (p.Arg1766=) c.4892G= (p.Arg1631=) c.4250G= (p.Arg1417=) c.1760G= (p.Arg587=) n.5675G= | dbSNP |