| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.48224287C>T | CA116353 | ABCC11 | c.538G>A (p.Gly180Arg) n.936G>A c.340G>A (p.Gly114Arg) n.3216G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224287C>G | CA395824738 | ABCC11 | c.538G>C (p.Gly180Arg) n.936G>C c.340G>C (p.Gly114Arg) n.3216G>C | dbSNP gnomAD v4 |
| 16 | g.48224287C= | CA2220718216 | ABCC11 | c.538G= (p.Gly180=) n.936G= c.340G= (p.Gly114=) n.3216G= | dbSNP |
| 16 | g.48224287C>A | CA395824739 | ABCC11 | c.538G>T (p.Gly180Trp) n.936G>T c.340G>T (p.Gly114Trp) n.3216G>T | dbSNP gnomAD v4 |