| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128839231A>G | CA120156 | KCNJ1 | c.1013T>C (p.Met338Thr) c.1070T>C (p.Met357Thr) c.1064T>C (p.Met355Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839231A>T | CA383242948 | KCNJ1 | c.1013T>A (p.Met338Lys) c.1070T>A (p.Met357Lys) c.1064T>A (p.Met355Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839231A= | CA2008286196 | KCNJ1 | c.1013T= (p.Met338=) c.1070T= (p.Met357=) c.1064T= (p.Met355=) | dbSNP |