| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21842440C>T | CA260083 | ABCC9 | c.3347G>A (p.Arg1116His) n.924G>A c.*2445G>A (n.*2445G>A) n.2848G>A c.3296G>A (p.Arg1099His) c.2228G>A (p.Arg743His) c.3308G>A (p.Arg1103His) c.3206G>A (p.Arg1069His) c.2480G>A (p.Arg827His) | ClinVar dbSNP gnomAD v2 |
| 12 | g.21842440C>A | CA16607192 | ABCC9 | c.3347G>T (p.Arg1116Leu) n.924G>T c.*2445G>T (n.*2445G>T) n.2848G>T c.3296G>T (p.Arg1099Leu) c.2228G>T (p.Arg743Leu) c.3308G>T (p.Arg1103Leu) c.3206G>T (p.Arg1069Leu) c.2480G>T (p.Arg827Leu) | ClinVar dbSNP |