| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44260501C>T | CA127394 | SLC4A1 | c.388G>A (p.Gly130Arg) n.322G>A n.527G>A c.193G>A (p.Gly65Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260501C= | CA2261310928 | SLC4A1 | c.388G= (p.Gly130=) n.322G= n.527G= c.193G= (p.Gly65=) | dbSNP |
| 17 | g.44260501C>A | CA399795178 | SLC4A1 | c.388G>T (p.Gly130Ter) n.322G>T n.527G>T c.193G>T (p.Gly65Ter) | dbSNP |
| 17 | g.44260501C>G | CA399795182 | SLC4A1 | c.388G>C (p.Gly130Arg) n.322G>C n.527G>C c.193G>C (p.Gly65Arg) | dbSNP |