Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.617967C>T | CA378987305 | CDHR5 | c.2087G>A (p.Cys696Tyr) c.2105G>A (p.Cys702Tyr) c.1523G>A (p.Cys508Tyr) c.*1937G>A (n.*1937G>A) c.1865G>A (p.Cys622Tyr) c.1772G>A (p.Cys591Tyr) c.1679G>A (p.Cys560Tyr) c.1438G>A (p.Val480Met) c.1379-197G>A (n.1379-197G>A) | dbSNP gnomAD v4 |
11 | g.617967C>G | CA5784390 | CDHR5 | c.2087G>C (p.Cys696Ser) c.2105G>C (p.Cys702Ser) c.1523G>C (p.Cys508Ser) c.*1937G>C (n.*1937G>C) c.1865G>C (p.Cys622Ser) c.1772G>C (p.Cys591Ser) c.1679G>C (p.Cys560Ser) c.1438G>C (p.Val480Leu) c.1379-197G>C (n.1379-197G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |