| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.183920057T>C | CA11389343 | ABCC5 | c.*1243A>G (n.*1243A>G) c.*4250A>G (n.*4250A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183920057T>A | CA1425784636 | ABCC5 | c.*1243A>T (n.*1243A>T) c.*4250A>T (n.*4250A>T) | dbSNP |
| 3 | g.183920057T>G | CA1425784638 | ABCC5 | c.*1243A>C (n.*1243A>C) c.*4250A>C (n.*4250A>C) | dbSNP |