| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44253150C>T | CA210834 | SLC4A1 | c.2279G>A (p.Arg760Gln) c.1181G>A (p.Arg394Gln) c.2084G>A (p.Arg695Gln) c.2189G>A (p.Arg730Gln) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44253150C= | CA2261307651 | SLC4A1 | c.2279G= (p.Arg760=) c.1181G= (p.Arg394=) c.2084G= (p.Arg695=) c.2189G= (p.Arg730=) | dbSNP |