| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44255804C>T | CA127377 | SLC4A1 | c.1669G>A (p.Val557Met) c.778-583G>A (n.778-583G>A) c.1474G>A (p.Val492Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44255804C>G | CA399784613 | SLC4A1 | c.1669G>C (p.Val557Leu) c.778-583G>C (n.778-583G>C) c.1474G>C (p.Val492Leu) | dbSNP gnomAD v2 gnomAD v4 |