| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44255708G>T | CA127390 | SLC4A1 | c.1765C>A (p.Arg589Ser) c.778-487C>A (n.778-487C>A) c.1570C>A (p.Arg524Ser) | ClinVar dbSNP |
| 17 | g.44255708G>A | CA127388 | SLC4A1 | c.1765C>T (p.Arg589Cys) c.778-487C>T (n.778-487C>T) c.1570C>T (p.Arg524Cys) | ClinVar dbSNP |
| 17 | g.44255708G>C | CA399784091 | SLC4A1 | c.1765C>G (p.Arg589Gly) c.778-487C>G (n.778-487C>G) c.1570C>G (p.Arg524Gly) | ClinVar dbSNP |
| 17 | g.44255708G= | CA2261308785 | SLC4A1 | c.1765C= (p.Arg589=) c.778-487C= (n.778-487C=) c.1570C= (p.Arg524=) | dbSNP |