Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387593T>ACA379773218KCNJ11c.238A>T (p.Ile80Phe)
c.499A>T (p.Ile167Phe)
n.657A>T
11g.17387593T>CCA379773217KCNJ11c.238A>G (p.Ile80Val)
c.499A>G (p.Ile167Val)
n.657A>G
11g.17387593T>GCA119835KCNJ11c.238A>C (p.Ile80Leu)
c.499A>C (p.Ile167Leu)
n.657A>C
ClinVar dbSNP
11g.17387593T=CA1955119322KCNJ11c.238A= (p.Ile80=)
c.499A= (p.Ile167=)
n.657A=
11g.17387594G>ACA473515517KCNJ11c.237C>T (p.Cys79=)
c.498C>T (p.Cys166=)
n.656C>T
11g.17387594G>CCA172328KCNJ11c.237C>G (p.Cys79Trp)
c.498C>G (p.Cys166Trp)
n.656C>G
ClinVar dbSNP
11g.17387594G=CA1955119323KCNJ11c.237C= (p.Cys79=)
c.498C= (p.Cys166=)
n.656C=
11g.17387594G>TCA379773220KCNJ11c.237C>A (p.Cys79Ter)
c.498C>A (p.Cys166Ter)
n.656C>A
ClinVar dbSNP
11g.17387595C>ACA119833KCNJ11c.236G>T (p.Cys79Phe)
c.497G>T (p.Cys166Phe)
n.655G>T
ClinVar dbSNP
11g.17387595C=CA1955119324KCNJ11c.236G= (p.Cys79=)
c.497G= (p.Cys166=)
n.655G=
11g.17387595C>GCA379773227KCNJ11c.236G>C (p.Cys79Ser)
c.497G>C (p.Cys166Ser)
n.655G>C
11g.17387595C>TCA341720KCNJ11c.236G>A (p.Cys79Tyr)
c.497G>A (p.Cys166Tyr)
n.655G>A
ClinVar dbSNP
11g.17387596A>CCA379773233KCNJ11c.235T>G (p.Cys79Gly)
c.496T>G (p.Cys166Gly)
n.654T>G
11g.17387596A>GCA379773235KCNJ11c.235T>C (p.Cys79Arg)
c.496T>C (p.Cys166Arg)
n.654T>C
11g.17387596A>TCA379773238KCNJ11c.235T>A (p.Cys79Ser)
c.496T>A (p.Cys166Ser)
n.654T>A
11g.17387597G>ACA473515518KCNJ11c.234C>T (p.Gly78=)
c.495C>T (p.Gly165=)
n.653C>T
ClinVar dbSNP gnomAD v4
11g.17387597G>CCA473515519KCNJ11c.234C>G (p.Gly78=)
c.495C>G (p.Gly165=)
n.653C>G
11g.17387597G>TCA473515520KCNJ11c.234C>A (p.Gly78=)
c.495C>A (p.Gly165=)
n.653C>A
11g.17387598C>ACA379773241KCNJ11c.233G>T (p.Gly78Val)
c.494G>T (p.Gly165Val)
n.652G>T
11g.17387598C=CA1955119325KCNJ11c.233G= (p.Gly78=)
c.494G= (p.Gly165=)
n.652G=
11g.17387598C>GCA379773242KCNJ11c.233G>C (p.Gly78Ala)
c.494G>C (p.Gly165Ala)
n.652G>C
11g.17387598C>TCA379773244KCNJ11c.233G>A (p.Gly78Asp)
c.494G>A (p.Gly165Asp)
n.652G>A
dbSNP gnomAD v3 gnomAD v4
11g.17387598_17387601dupCA2695201084KCNJ11c.230_233dup (p.Cys79TrpfsTer15)
c.491_494dup (p.Cys166TrpfsTer15)
n.649_652dup
11g.17387599C>ACA379773247KCNJ11c.232G>T (p.Gly78Cys)
c.493G>T (p.Gly165Cys)
n.651G>T
11g.17387599C=CA1955119326KCNJ11c.232G= (p.Gly78=)
c.493G= (p.Gly165=)
n.651G=
11g.17387599C>GCA379773246KCNJ11c.232G>C (p.Gly78Arg)
c.493G>C (p.Gly165Arg)
n.651G>C
11g.17387599C>TCA5902286KCNJ11c.232G>A (p.Gly78Ser)
c.493G>A (p.Gly165Ser)
n.651G>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387600A>CCA473515521KCNJ11c.231T>G (p.Leu77=)
c.492T>G (p.Leu164=)
n.650T>G
11g.17387600A>GCA473515522KCNJ11c.231T>C (p.Leu77=)
c.492T>C (p.Leu164=)
n.650T>C
11g.17387600A>TCA473515523KCNJ11c.231T>A (p.Leu77=)
c.492T>A (p.Leu164=)
n.650T>A
11g.17387601A>CCA379773252KCNJ11c.230T>G (p.Leu77Arg)
c.491T>G (p.Leu164Arg)
n.649T>G
11g.17387601A>GCA379773258KCNJ11c.230T>C (p.Leu77Pro)
c.491T>C (p.Leu164Pro)
n.649T>C
11g.17387601A>TCA379773259KCNJ11c.230T>A (p.Leu77His)
c.491T>A (p.Leu164His)
n.649T>A
11g.17387602G>ACA379773262KCNJ11c.229C>T (p.Leu77Phe)
c.490C>T (p.Leu164Phe)
n.648C>T
ClinVar dbSNP
11g.17387602G>CCA379773264KCNJ11c.229C>G (p.Leu77Val)
c.490C>G (p.Leu164Val)
n.648C>G
11g.17387602G=CA1955119327KCNJ11c.229C= (p.Leu77=)
c.490C= (p.Leu164=)
n.648C=
11g.17387602G>TCA379773266KCNJ11c.229C>A (p.Leu77Ile)
c.490C>A (p.Leu164Ile)
n.648C>A
ClinVar dbSNP
11g.17387603C>ACA379773269KCNJ11c.228G>T (p.Met76Ile)
c.489G>T (p.Met163Ile)
n.647G>T
11g.17387603C>GCA379773278KCNJ11c.228G>C (p.Met76Ile)
c.489G>C (p.Met163Ile)
n.647G>C
11g.17387603C>TCA379773281KCNJ11c.228G>A (p.Met76Ile)
c.489G>A (p.Met163Ile)
n.647G>A
11g.17387604A>CCA379773284KCNJ11c.227T>G (p.Met76Arg)
c.488T>G (p.Met163Arg)
n.646T>G
11g.17387604A>GCA379773287KCNJ11c.227T>C (p.Met76Thr)
c.488T>C (p.Met163Thr)
n.646T>C
ClinVar dbSNP
11g.17387604A>TCA379773289KCNJ11c.227T>A (p.Met76Lys)
c.488T>A (p.Met163Lys)
n.646T>A
11g.17387605T>ACA379773293KCNJ11c.226A>T (p.Met76Leu)
c.487A>T (p.Met163Leu)
n.645A>T
11g.17387605T>CCA379773295KCNJ11c.226A>G (p.Met76Val)
c.487A>G (p.Met163Val)
n.645A>G
11g.17387605T>GCA379773291KCNJ11c.226A>C (p.Met76Leu)
c.487A>C (p.Met163Leu)
n.645A>C
11g.17387606G>ACA473515524KCNJ11c.225C>T (p.Ile75=)
c.486C>T (p.Ile162=)
n.644C>T
11g.17387606G>CCA379773298KCNJ11c.225C>G (p.Ile75Met)
c.486C>G (p.Ile162Met)
n.644C>G
11g.17387606G>TCA473515525KCNJ11c.225C>A (p.Ile75=)
c.486C>A (p.Ile162=)
n.644C>A
11g.17387607A>CCA379773301KCNJ11c.224T>G (p.Ile75Ser)
c.485T>G (p.Ile162Ser)
n.643T>G

Number of alleles fetched