Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387301T>ACA379770716KCNJ11c.530A>T (p.Asn177Ile)
c.791A>T (p.Asn264Ile)
n.949A>T
11g.17387301T>CCA379770717KCNJ11c.530A>G (p.Asn177Ser)
c.791A>G (p.Asn264Ser)
n.949A>G
11g.17387301T>GCA379770718KCNJ11c.530A>C (p.Asn177Thr)
c.791A>C (p.Asn264Thr)
n.949A>C
11g.17387302T>ACA379770721KCNJ11c.529A>T (p.Asn177Tyr)
c.790A>T (p.Asn264Tyr)
n.948A>T
11g.17387302T>CCA379770723KCNJ11c.529A>G (p.Asn177Asp)
c.790A>G (p.Asn264Asp)
n.948A>G
11g.17387302T>GCA379770726KCNJ11c.529A>C (p.Asn177His)
c.790A>C (p.Asn264His)
n.948A>C
11g.17387303G>ACA473515415KCNJ11c.528C>T (p.Ala176=)
c.789C>T (p.Ala263=)
n.947C>T
ClinVar dbSNP gnomAD v4
11g.17387303G>CCA473515416KCNJ11c.528C>G (p.Ala176=)
c.789C>G (p.Ala263=)
n.947C>G
11g.17387303G>TCA473515417KCNJ11c.528C>A (p.Ala176=)
c.789C>A (p.Ala263=)
n.947C>A
11g.17387304G>ACA379770731KCNJ11c.527C>T (p.Ala176Val)
c.788C>T (p.Ala263Val)
n.946C>T
11g.17387304G>CCA379770732KCNJ11c.527C>G (p.Ala176Gly)
c.788C>G (p.Ala263Gly)
n.946C>G
11g.17387304G=CA1955119204KCNJ11c.527C= (p.Ala176=)
c.788C= (p.Ala263=)
n.946C=
11g.17387304G>TCA5902247KCNJ11c.527C>A (p.Ala176Asp)
c.788C>A (p.Ala263Asp)
n.946C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387305C>ACA379770734KCNJ11c.526G>T (p.Ala176Ser)
c.787G>T (p.Ala263Ser)
n.945G>T
11g.17387305C>GCA379770736KCNJ11c.526G>C (p.Ala176Pro)
c.787G>C (p.Ala263Pro)
n.945G>C
11g.17387305C>TCA379770738KCNJ11c.526G>A (p.Ala176Thr)
c.787G>A (p.Ala263Thr)
n.945G>A
11g.17387306A>CCA379770746KCNJ11c.525T>G (p.Asp175Glu)
c.786T>G (p.Asp262Glu)
n.944T>G
11g.17387306A>GCA473515418KCNJ11c.525T>C (p.Asp175=)
c.786T>C (p.Asp262=)
n.944T>C
11g.17387306A>TCA379770749KCNJ11c.525T>A (p.Asp175Glu)
c.786T>A (p.Asp262Glu)
n.944T>A
11g.17387307T>ACA379770753KCNJ11c.524A>T (p.Asp175Val)
c.785A>T (p.Asp262Val)
n.943A>T
11g.17387307T>CCA379770758KCNJ11c.524A>G (p.Asp175Gly)
c.785A>G (p.Asp262Gly)
n.943A>G
11g.17387307T>GCA379770760KCNJ11c.524A>C (p.Asp175Ala)
c.785A>C (p.Asp262Ala)
n.943A>C
11g.17387308C>ACA379770762KCNJ11c.523G>T (p.Asp175Tyr)
c.784G>T (p.Asp262Tyr)
n.942G>T
11g.17387308C=CA1955119205KCNJ11c.523G= (p.Asp175=)
c.784G= (p.Asp262=)
n.942G=
11g.17387308C>GCA379770764KCNJ11c.523G>C (p.Asp175His)
c.784G>C (p.Asp262His)
n.942G>C
11g.17387308C>TCA379770767KCNJ11c.523G>A (p.Asp175Asn)
c.784G>A (p.Asp262Asn)
n.942G>A
ClinVar dbSNP gnomAD v4
11g.17387309A>CCA379770770KCNJ11c.522T>G (p.Ile174Met)
c.783T>G (p.Ile261Met)
n.941T>G
11g.17387309A>GCA473515420KCNJ11c.522T>C (p.Ile174=)
c.783T>C (p.Ile261=)
n.941T>C
dbSNP
11g.17387309A>TCA473515419KCNJ11c.522T>A (p.Ile174=)
c.783T>A (p.Ile261=)
n.941T>A
11g.17387310A=CA1955119206KCNJ11c.521T= (p.Ile174=)
c.782T= (p.Ile261=)
n.940T=
11g.17387310A>CCA379770775KCNJ11c.521T>G (p.Ile174Ser)
c.782T>G (p.Ile261Ser)
n.940T>G
11g.17387310A>GCA379770793KCNJ11c.521T>C (p.Ile174Thr)
c.782T>C (p.Ile261Thr)
n.940T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387310A>TCA379770779KCNJ11c.521T>A (p.Ile174Asn)
c.782T>A (p.Ile261Asn)
n.940T>A
11g.17387311T>ACA379770795KCNJ11c.520A>T (p.Ile174Phe)
c.781A>T (p.Ile261Phe)
n.939A>T
11g.17387311T>CCA379770797KCNJ11c.520A>G (p.Ile174Val)
c.781A>G (p.Ile261Val)
n.939A>G
11g.17387311T>GCA379770800KCNJ11c.520A>C (p.Ile174Leu)
c.781A>C (p.Ile261Leu)
n.939A>C
11g.17387312G>ACA5902248KCNJ11c.519C>T (p.Val173=)
c.780C>T (p.Val260=)
n.938C>T
dbSNP ExAC gnomAD v2
11g.17387312G>CCA473515423KCNJ11c.519C>G (p.Val173=)
c.780C>G (p.Val260=)
n.938C>G
11g.17387312G=CA1955119207KCNJ11c.519C= (p.Val173=)
c.780C= (p.Val260=)
n.938C=
11g.17387312G>TCA473515422KCNJ11c.519C>A (p.Val173=)
c.780C>A (p.Val260=)
n.938C>A
11g.17387313A>CCA379770807KCNJ11c.518T>G (p.Val173Gly)
c.779T>G (p.Val260Gly)
n.937T>G
11g.17387313A>GCA379770810KCNJ11c.518T>C (p.Val173Ala)
c.779T>C (p.Val260Ala)
n.937T>C
11g.17387313A>TCA379770813KCNJ11c.518T>A (p.Val173Asp)
c.779T>A (p.Val260Asp)
n.937T>A
11g.17387314C>ACA379770815KCNJ11c.517G>T (p.Val173Phe)
c.778G>T (p.Val260Phe)
n.936G>T
11g.17387314C=CA1955119208KCNJ11c.517G= (p.Val173=)
c.778G= (p.Val260=)
n.936G=
11g.17387314C>GCA379770818KCNJ11c.517G>C (p.Val173Leu)
c.778G>C (p.Val260Leu)
n.936G>C
11g.17387314C>TCA218399602KCNJ11c.517G>A (p.Val173Ile)
c.778G>A (p.Val260Ile)
n.936G>A
ClinVar dbSNP
11g.17387315A>CCA379770824KCNJ11c.516T>G (p.His172Gln)
c.777T>G (p.His259Gln)
n.935T>G
11g.17387315A>GCA473515425KCNJ11c.516T>C (p.His172=)
c.777T>C (p.His259=)
n.935T>C
gnomAD v4
11g.17387315A>TCA379770825KCNJ11c.516T>A (p.His172Gln)
c.777T>A (p.His259Gln)
n.935T>A

Number of alleles fetched