| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44253228T>C | CA215059 | SLC4A1 | c.2201A>G (p.His734Arg) c.1103A>G (p.His368Arg) c.2006A>G (p.His669Arg) c.2111A>G (p.His704Arg) | ClinVar dbSNP |
| 17 | g.44253228T= | CA2261307669 | SLC4A1 | c.2201A= (p.His734=) c.1103A= (p.His368=) c.2006A= (p.His669=) c.2111A= (p.His704=) | dbSNP |