| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387436_17387438del | CA3003288960 | KCNJ11 | c.396_398del (p.Val133del) c.657_659del (p.Val220del) n.815_817del | |
| 11 | g.17387436A>C | CA379771692 | KCNJ11 | c.395T>G (p.Val132Gly) c.656T>G (p.Val219Gly) n.814T>G | |
| 11 | g.17387436A>G | CA379771696 | KCNJ11 | c.395T>C (p.Val132Ala) c.656T>C (p.Val219Ala) n.814T>C | |
| 11 | g.17387436A>T | CA379771700 | KCNJ11 | c.395T>A (p.Val132Glu) c.656T>A (p.Val219Glu) n.814T>A | |
| 11 | g.17387437C>A | CA5902269 | KCNJ11 | c.394G>T (p.Val132Leu) c.655G>T (p.Val219Leu) n.813G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387437C= | CA1955119262 | KCNJ11 | c.394G= (p.Val132=) c.655G= (p.Val219=) n.813G= | dbSNP |
| 11 | g.17387437C>G | CA379771709 | KCNJ11 | c.394G>C (p.Val132Leu) c.655G>C (p.Val219Leu) n.813G>C | |
| 11 | g.17387437C>T | CA379771712 | KCNJ11 | c.394G>A (p.Val132Met) c.655G>A (p.Val219Met) n.813G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387438C>A | CA379771728 | KCNJ11 | c.393G>T (p.Gln131His) c.654G>T (p.Gln218His) n.812G>T | |
| 11 | g.17387438C>G | CA379771724 | KCNJ11 | c.393G>C (p.Gln131His) c.654G>C (p.Gln218His) n.812G>C | |
| 11 | g.17387438C>T | CA473515668 | KCNJ11 | c.393G>A (p.Gln131=) c.654G>A (p.Gln218=) n.812G>A | |
| 11 | g.17387439T>A | CA379771735 | KCNJ11 | c.392A>T (p.Gln131Leu) c.653A>T (p.Gln218Leu) n.811A>T | |
| 11 | g.17387439T>C | CA379771741 | KCNJ11 | c.392A>G (p.Gln131Arg) c.653A>G (p.Gln218Arg) n.811A>G | dbSNP gnomAD v4 |
| 11 | g.17387439T>G | CA379771744 | KCNJ11 | c.392A>C (p.Gln131Pro) c.653A>C (p.Gln218Pro) n.811A>C | |
| 11 | g.17387439T= | CA3189260842 | KCNJ11 | c.392A= (p.Gln131=) c.653A= (p.Gln218=) n.811A= | dbSNP |
| 11 | g.17387440G>A | CA379771745 | KCNJ11 | c.391C>T (p.Gln131Ter) c.652C>T (p.Gln218Ter) n.810C>T | dbSNP gnomAD v4 |
| 11 | g.17387440G>C | CA379771746 | KCNJ11 | c.391C>G (p.Gln131Glu) c.652C>G (p.Gln218Glu) n.810C>G | |
| 11 | g.17387440G= | CA3189260864 | KCNJ11 | c.391C= (p.Gln131=) c.652C= (p.Gln218=) n.810C= | dbSNP |
| 11 | g.17387440G>T | CA379771750 | KCNJ11 | c.391C>A (p.Gln131Lys) c.652C>A (p.Gln218Lys) n.810C>A | |
| 11 | g.17387441C>A | CA379771756 | KCNJ11 | c.390G>T (p.Met130Ile) c.651G>T (p.Met217Ile) n.809G>T | |
| 11 | g.17387441C>G | CA379771760 | KCNJ11 | c.390G>C (p.Met130Ile) c.651G>C (p.Met217Ile) n.809G>C | |
| 11 | g.17387441C>T | CA379771764 | KCNJ11 | c.390G>A (p.Met130Ile) c.651G>A (p.Met217Ile) n.809G>A | |
| 11 | g.17387442del | CA473515669 | KCNJ11 | c.389del (p.Met130SerfsTer?) c.650del (p.Met217SerfsTer?) n.808del | COSMIC |
| 11 | g.17387442A= | CA1955119263 | KCNJ11 | c.389T= (p.Met130=) c.650T= (p.Met217=) n.808T= | dbSNP |
| 11 | g.17387442A>C | CA379771771 | KCNJ11 | c.389T>G (p.Met130Arg) c.650T>G (p.Met217Arg) n.808T>G | |
| 11 | g.17387442A>G | CA5902270 | KCNJ11 | c.389T>C (p.Met130Thr) c.650T>C (p.Met217Thr) n.808T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387442A>T | CA379771780 | KCNJ11 | c.389T>A (p.Met130Lys) c.650T>A (p.Met217Lys) n.808T>A | |
| 11 | g.17387443T>A | CA379771800 | KCNJ11 | c.388A>T (p.Met130Leu) c.649A>T (p.Met217Leu) n.807A>T | |
| 11 | g.17387443T>C | CA379771789 | KCNJ11 | c.388A>G (p.Met130Val) c.649A>G (p.Met217Val) n.807A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387443T>G | CA379771785 | KCNJ11 | c.388A>C (p.Met130Leu) c.649A>C (p.Met217Leu) n.807A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387443T= | CA1955119264 | KCNJ11 | c.388A= (p.Met130=) c.649A= (p.Met217=) n.807A= | dbSNP |
| 11 | g.17387444G>A | CA473515670 | KCNJ11 | c.387C>T (p.His129=) c.648C>T (p.His216=) n.806C>T | |
| 11 | g.17387444G>C | CA379771805 | KCNJ11 | c.387C>G (p.His129Gln) c.648C>G (p.His216Gln) n.806C>G | |
| 11 | g.17387444G>T | CA379771809 | KCNJ11 | c.387C>A (p.His129Gln) c.648C>A (p.His216Gln) n.806C>A | |
| 11 | g.17387445T>A | CA379771815 | KCNJ11 | c.386A>T (p.His129Leu) c.647A>T (p.His216Leu) n.805A>T | |
| 11 | g.17387445T>C | CA379771820 | KCNJ11 | c.386A>G (p.His129Arg) c.647A>G (p.His216Arg) n.805A>G | |
| 11 | g.17387445T>G | CA379771836 | KCNJ11 | c.386A>C (p.His129Pro) c.647A>C (p.His216Pro) n.805A>C | |
| 11 | g.17387446G>A | CA379771841 | KCNJ11 | c.385C>T (p.His129Tyr) c.646C>T (p.His216Tyr) n.804C>T | |
| 11 | g.17387446G>C | CA379771844 | KCNJ11 | c.385C>G (p.His129Asp) c.646C>G (p.His216Asp) n.804C>G | |
| 11 | g.17387446G= | CA3189260930 | KCNJ11 | c.385C= (p.His129=) c.646C= (p.His216=) n.804C= | dbSNP |
| 11 | g.17387446G>T | CA379771847 | KCNJ11 | c.385C>A (p.His129Asn) c.646C>A (p.His216Asn) n.804C>A | dbSNP gnomAD v4 |
| 11 | g.17387447del | CA3003288991 | KCNJ11 | c.385del (p.His129ThrfsTer?) c.646del (p.His216ThrfsTer?) n.804del | |
| 11 | g.17387447G>A | CA473515671 | KCNJ11 | c.384C>T (p.Ile128=) c.645C>T (p.Ile215=) n.803C>T | |
| 11 | g.17387447G>C | CA379771854 | KCNJ11 | c.384C>G (p.Ile128Met) c.645C>G (p.Ile215Met) n.803C>G | |
| 11 | g.17387447G>T | CA473515672 | KCNJ11 | c.384C>A (p.Ile128=) c.645C>A (p.Ile215=) n.803C>A | |
| 11 | g.17387448A>C | CA379771859 | KCNJ11 | c.383T>G (p.Ile128Ser) c.644T>G (p.Ile215Ser) n.802T>G | |
| 11 | g.17387448A>G | CA379771862 | KCNJ11 | c.383T>C (p.Ile128Thr) c.644T>C (p.Ile215Thr) n.802T>C | |
| 11 | g.17387448A>T | CA379771875 | KCNJ11 | c.383T>A (p.Ile128Asn) c.644T>A (p.Ile215Asn) n.802T>A | |
| 11 | g.17387449T>A | CA379771886 | KCNJ11 | c.382A>T (p.Ile128Phe) c.643A>T (p.Ile215Phe) n.801A>T | |
| 11 | g.17387449T>C | CA379771882 | KCNJ11 | c.382A>G (p.Ile128Val) c.643A>G (p.Ile215Val) n.801A>G |