| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.20728390G>A | CA4177455 | ABCB5 | c.2802G>A (p.Ala934=) c.1467G>A (p.Ala489=) c.303G>A (p.Ala101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.20728390G>C | CA4177456 | ABCB5 | c.2802G>C (p.Ala934=) c.1467G>C (p.Ala489=) c.303G>C (p.Ala101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |