Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44251253G>A | CA127392 | SLC4A1 | c.2561C>T (p.Pro854Leu) c.1463C>T (p.Pro488Leu) c.2366C>T (p.Pro789Leu) c.2471C>T (p.Pro824Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44251253G>T | CA8599998 | SLC4A1 | c.2561C>A (p.Pro854Gln) c.1463C>A (p.Pro488Gln) c.2366C>A (p.Pro789Gln) c.2471C>A (p.Pro824Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |