| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17395915G>T | CA213454 | ABCC8 | c.4135C>A (p.Arg1379Ser) c.4138C>A (p.Arg1380Ser) c.2635C>A (p.Arg879Ser) n.4201C>A c.4201C>A (p.Arg1401Ser) c.4132C>A (p.Arg1378Ser) n.4430C>A c.4204C>A (p.Arg1402Ser) c.2701C>A (p.Arg901Ser) c.2092C>A (p.Arg698Ser) c.2503C>A (p.Arg835Ser) n.4276C>A n.4207C>A n.5857C>A n.1C>A n.3C>A n.609C>A | ClinVar dbSNP gnomAD |
| 11 | g.17395915G>A | CA120112 | ABCC8 | c.4135C>T (p.Arg1379Cys) c.4138C>T (p.Arg1380Cys) c.2635C>T (p.Arg879Cys) n.4201C>T c.4201C>T (p.Arg1401Cys) c.4132C>T (p.Arg1378Cys) n.4430C>T c.4204C>T (p.Arg1402Cys) c.2701C>T (p.Arg901Cys) c.2092C>T (p.Arg698Cys) c.2503C>T (p.Arg835Cys) n.4276C>T n.4207C>T n.5857C>T n.1C>T n.3C>T n.609C>T | ClinVar dbSNP ExAC gnomAD COSMIC |