| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44255272C>T | CA10581267 | SLC4A1 | c.1825G>A (p.Gly609Arg) c.778-51G>A (n.778-51G>A) c.1630G>A (p.Gly544Arg) c.1800+401G>A (n.1800+401G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44255272C= | CA2261308593 | SLC4A1 | c.1825G= (p.Gly609=) c.778-51G= (n.778-51G=) c.1630G= (p.Gly544=) c.1800+401G= (n.1800+401G=) | dbSNP |
| 17 | g.44255272C>G | CA399783949 | SLC4A1 | c.1825G>C (p.Gly609Arg) c.778-51G>C (n.778-51G>C) c.1630G>C (p.Gly544Arg) c.1800+401G>C (n.1800+401G>C) | dbSNP gnomAD v4 |