| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71778252G>A | CA245543 | CDH23 | c.5131G>A (p.Val1711Ile) c.5146G>A (p.Val1716Ile) c.5326G>A (p.Val1776Ile) c.5260G>A (p.Val1754Ile) c.5323G>A (p.Val1775Ile) c.5320G>A (p.Val1774Ile) c.5266G>A (p.Val1756Ile) c.5191G>A (p.Val1731Ile) c.4786G>A (p.Val1596Ile) c.4144G>A (p.Val1382Ile) c.1654G>A (p.Val552Ile) n.5569G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71778252G>T | CA377141017 | CDH23 | c.5131G>T (p.Val1711Phe) c.5146G>T (p.Val1716Phe) c.5326G>T (p.Val1776Phe) c.5260G>T (p.Val1754Phe) c.5323G>T (p.Val1775Phe) c.5320G>T (p.Val1774Phe) c.5266G>T (p.Val1756Phe) c.5191G>T (p.Val1731Phe) c.4786G>T (p.Val1596Phe) c.4144G>T (p.Val1382Phe) c.1654G>T (p.Val552Phe) n.5569G>T | ClinVar dbSNP |
| 10 | g.71778252G= | CA1918874546 | CDH23 | c.5131G= (p.Val1711=) c.5146G= (p.Val1716=) c.5326G= (p.Val1776=) c.5260G= (p.Val1754=) c.5323G= (p.Val1775=) c.5320G= (p.Val1774=) c.5266G= (p.Val1756=) c.5191G= (p.Val1731=) c.4786G= (p.Val1596=) c.4144G= (p.Val1382=) c.1654G= (p.Val552=) n.5569G= | dbSNP |