| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.163469644C>T | CA3545573 | HMMR | c.277C>T (p.Arg93Cys) c.229C>T (p.Arg77Cys) c.274C>T (p.Arg92Cys) c.16C>T (p.Arg6Cys) n.262C>T c.-69C>T (n.-69C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.163469644C>A | CA362061884 | HMMR | c.277C>A (p.Arg93Ser) c.229C>A (p.Arg77Ser) c.274C>A (p.Arg92Ser) c.16C>A (p.Arg6Ser) n.262C>A c.-69C>A (n.-69C>A) | dbSNP gnomAD v4 |
| 5 | g.163469644C= | CA1597023385 | HMMR | c.277C= (p.Arg93=) c.229C= (p.Arg77=) c.274C= (p.Arg92=) c.16C= (p.Arg6=) n.262C= c.-69C= (n.-69C=) | dbSNP |