| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.10500245C>T | CA128020 | AMPD3 | c.1717C>T (p.Arg573Cys) c.1744C>T (p.Arg582Cys) c.1240C>T (p.Arg414Cys) c.1738C>T (p.Arg580Cys) c.61C>T (p.Arg21Cys) n.308C>T c.*1070C>T (n.*1070C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.10500245C= | CA1951924689 | AMPD3 | c.1717C= (p.Arg573=) c.1744C= (p.Arg582=) c.1240C= (p.Arg414=) c.1738C= (p.Arg580=) c.61C= (p.Arg21=) n.308C= c.*1070C= (n.*1070C=) | dbSNP dbSNP |