| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44254581C>G | CA8600155 | SLC4A1 | c.1972G>C (p.Glu658Gln) c.874G>C (p.Glu292Gln) c.1777G>C (p.Glu593Gln) c.1882G>C (p.Glu628Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44254581C>T | CA127380 | SLC4A1 | c.1972G>A (p.Glu658Lys) c.874G>A (p.Glu292Lys) c.1777G>A (p.Glu593Lys) c.1882G>A (p.Glu628Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |