Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128912107T>G | CA383251214 | KCNJ5 | c.834T>G (p.His278Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128912107T>A | CA383251215 | KCNJ5 | c.834T>A (p.His278Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.128912107T>C | CA291755 | KCNJ5 | c.834T>C (p.His278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |