| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219212413G>A | CA129258 | ABCB6,ATG9A | c.1942C>T (p.Arg648Ter) c.1804C>T (p.Arg602Ter) c.1485C>T c.4667C>T n.492C>T n.2255C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219212413G= | CA1329113169 | ABCB6,ATG9A | c.1942C= (p.Arg648=) c.1804C= (p.Arg602=) c.1485C= c.4667C= n.492C= n.2255C= | dbSNP |