| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.49219935T>A | CA400140580 | ABI3 | c.626T>A (p.Phe209Tyr) c.608T>A (p.Phe203Tyr) c.78T>A c.141T>A | dbSNP gnomAD v4 |
| 17 | g.49219935T>C | CA8637451 | ABI3 | c.626T>C (p.Phe209Ser) c.608T>C (p.Phe203Ser) c.78T>C c.141T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.49219935T= | CA2263471976 | ABI3 | c.626T= (p.Phe209=) c.608T= (p.Phe203=) c.78T= c.141T= | dbSNP |