| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127819934C>T | CA5252841 | ENG | c.692G>A (p.Gly231Asp) c.1238G>A (p.Gly413Asp) n.206G>A n.1568+1223C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127819934C>A | CA257572 | ENG | c.692G>T (p.Gly231Val) c.1238G>T (p.Gly413Val) n.206G>T n.1568+1223C>A | ClinVar dbSNP |
| 9 | g.127819934C= | CA1879989701 | ENG | c.692G= (p.Gly231=) c.1238G= (p.Gly413=) n.206G= n.1568+1223C= | dbSNP |