| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151064227G>T | CA370007763 | SLC4A2 | c.77G>T (p.Gly26Val) c.52-378G>T (n.52-378G>T) c.50G>T (p.Gly17Val) c.35G>T (p.Gly12Val) n.312G>T | dbSNP |
| 7 | g.151064227G>A | CA4570721 | SLC4A2 | c.77G>A (p.Gly26Glu) c.52-378G>A (n.52-378G>A) c.50G>A (p.Gly17Glu) c.35G>A (p.Gly12Glu) n.312G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |