| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44253327C>T | CA127391 | SLC4A1 | c.2102G>A (p.Gly701Asp) c.1004G>A (p.Gly335Asp) c.1907G>A (p.Gly636Asp) c.2012G>A (p.Gly671Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.44253327C>G | CA399781807 | SLC4A1 | c.2102G>C (p.Gly701Ala) c.1004G>C (p.Gly335Ala) c.1907G>C (p.Gly636Ala) c.2012G>C (p.Gly671Ala) | dbSNP |
| 17 | g.44253327C= | CA2261307710 | SLC4A1 | c.2102G= (p.Gly701=) c.1004G= (p.Gly335=) c.1907G= (p.Gly636=) c.2012G= (p.Gly671=) | dbSNP |