| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214953891G>A | CA252483 | ABCA12,SNHG31 | c.6610C>T (p.Arg2204Ter) c.5656C>T (p.Arg1886Ter) n.6910C>T n.444+5944G>A c.6619C>T (p.Arg2207Ter) n.7108C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.214953891G>T | CA431387979 | ABCA12,SNHG31 | c.6610C>A (p.Arg2204=) c.5656C>A (p.Arg1886=) n.6910C>A n.444+5944G>T c.6619C>A (p.Arg2207=) n.7108C>A | ClinVar dbSNP gnomAD v4 |