Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387823C>ACA379774946KCNJ11c.41G>T (p.Trp14Leu)
c.8G>T (p.Trp3Leu)
c.269G>T (p.Trp90Leu)
c.286G>T
n.427G>T
11g.17387823C=CA1955119407KCNJ11c.41G= (p.Trp14=)
c.8G= (p.Trp3=)
c.269G= (p.Trp90=)
c.286G=
n.427G=
11g.17387823C>GCA379774949KCNJ11c.41G>C (p.Trp14Ser)
c.8G>C (p.Trp3Ser)
c.269G>C (p.Trp90Ser)
c.286G>C
n.427G>C
11g.17387823C>TCA379774952KCNJ11c.41G>A (p.Trp14Ter)
c.8G>A (p.Trp3Ter)
c.269G>A (p.Trp90Ter)
c.286G>A
n.427G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387824A>CCA379774955KCNJ11c.40T>G (p.Trp14Gly)
c.7T>G (p.Trp3Gly)
c.268T>G (p.Trp90Gly)
c.285T>G
n.426T>G
11g.17387824A>GCA379774958KCNJ11c.40T>C (p.Trp14Arg)
c.7T>C (p.Trp3Arg)
c.268T>C (p.Trp90Arg)
c.285T>C
n.426T>C
 gnomAD v4
11g.17387824A>TCA379774960KCNJ11c.40T>A (p.Trp14Arg)
c.7T>A (p.Trp3Arg)
c.268T>A (p.Trp90Arg)
c.285T>A
n.426T>A
11g.17387825G>ACA473515800KCNJ11c.39C>T (p.Ala13=)
c.6C>T (p.Ala2=)
c.267C>T (p.Ala89=)
c.284C>T
n.425C>T
 gnomAD v4
11g.17387825G>CCA473515801KCNJ11c.39C>G (p.Ala13=)
c.6C>G (p.Ala2=)
c.267C>G (p.Ala89=)
c.284C>G
n.425C>G
11g.17387825G>TCA473515802KCNJ11c.39C>A (p.Ala13=)
c.6C>A (p.Ala2=)
c.267C>A (p.Ala89=)
c.284C>A
n.425C>A
11g.17387826G>ACA379774964KCNJ11c.38C>T (p.Ala13Val)
c.5C>T (p.Ala2Val)
c.266C>T (p.Ala89Val)
c.283C>T
n.424C>T
11g.17387826G>CCA379774967KCNJ11c.38C>G (p.Ala13Gly)
c.5C>G (p.Ala2Gly)
c.266C>G (p.Ala89Gly)
c.283C>G
n.424C>G
11g.17387826G>TCA379774970KCNJ11c.38C>A (p.Ala13Asp)
c.5C>A (p.Ala2Asp)
c.266C>A (p.Ala89Asp)
c.283C>A
n.424C>A
11g.17387827C>ACA379774978KCNJ11c.37G>T (p.Ala13Ser)
c.4G>T (p.Ala2Ser)
c.265G>T (p.Ala89Ser)
c.282G>T
n.423G>T
11g.17387827C>GCA379774973KCNJ11c.37G>C (p.Ala13Pro)
c.4G>C (p.Ala2Pro)
c.265G>C (p.Ala89Pro)
c.282G>C
n.423G>C
11g.17387827C>TCA379774976KCNJ11c.37G>A (p.Ala13Thr)
c.4G>A (p.Ala2Thr)
c.265G>A (p.Ala89Thr)
c.282G>A
n.423G>A
11g.17387828C>ACA379774980KCNJ11c.36G>T (p.Met12Ile)
c.3G>T (p.Met1Ile)
c.264G>T (p.Met88Ile)
c.281G>T
n.422G>T
 ClinVar dbSNP gnomAD v4
11g.17387828C=CA1955119408KCNJ11c.36G= (p.Met12=)
c.3G= (p.Met1=)
c.264G= (p.Met88=)
c.281G=
n.422G=
11g.17387828C>GCA379774982KCNJ11c.36G>C (p.Met12Ile)
c.3G>C (p.Met1Ile)
c.264G>C (p.Met88Ile)
c.281G>C
n.422G>C
11g.17387828C>TCA379774985KCNJ11c.36G>A (p.Met12Ile)
c.3G>A (p.Met1Ile)
c.264G>A (p.Met88Ile)
c.281G>A
n.422G>A
11g.17387829A>CCA379774989KCNJ11c.35T>G (p.Met12Arg)
c.2T>G (p.Met1Arg)
c.263T>G (p.Met88Arg)
c.280T>G
n.421T>G
11g.17387829A>GCA379774991KCNJ11c.35T>C (p.Met12Thr)
c.2T>C (p.Met1Thr)
c.263T>C (p.Met88Thr)
c.280T>C
n.421T>C
11g.17387829A>TCA379774993KCNJ11c.35T>A (p.Met12Lys)
c.2T>A (p.Met1Lys)
c.263T>A (p.Met88Lys)
c.280T>A
n.421T>A
11g.17387830T>ACA5902317KCNJ11c.34A>T (p.Met12Leu)
c.1A>T (p.Met1Leu)
c.262A>T (p.Met88Leu)
c.279A>T
n.420A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387830T>CCA379775003KCNJ11c.34A>G (p.Met12Val)
c.1A>G (p.Met1Val)
c.262A>G (p.Met88Val)
c.279A>G
n.420A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387830T>GCA379775008KCNJ11c.34A>C (p.Met12Leu)
c.1A>C (p.Met1Leu)
c.262A>C (p.Met88Leu)
c.279A>C
n.420A>C
11g.17387830T=CA1955119409KCNJ11c.34A= (p.Met12=)
c.1A= (p.Met1=)
c.262A= (p.Met88=)
c.279A=
n.420A=
11g.17387831G>ACA473515803KCNJ11c.33C>T (p.Ala11=)
c.-1C>T (n.-1C>T)
c.261C>T (p.Ala87=)
c.278C>T
n.419C>T
11g.17387831G>CCA473515804KCNJ11c.33C>G (p.Ala11=)
c.-1C>G (n.-1C>G)
c.261C>G (p.Ala87=)
c.278C>G
n.419C>G
11g.17387831G>TCA473515805KCNJ11c.33C>A (p.Ala11=)
c.-1C>A (n.-1C>A)
c.261C>A (p.Ala87=)
c.278C>A
n.419C>A
11g.17387832G>ACA379775012KCNJ11c.32C>T (p.Ala11Val)
c.-2C>T (n.-2C>T)
c.260C>T (p.Ala87Val)
c.277C>T
n.418C>T
 gnomAD v4
11g.17387832G>CCA379775015KCNJ11c.32C>G (p.Ala11Gly)
c.-2C>G (n.-2C>G)
c.260C>G (p.Ala87Gly)
c.277C>G
n.418C>G
11g.17387832G>TCA379775018KCNJ11c.32C>A (p.Ala11Asp)
c.-2C>A (n.-2C>A)
c.260C>A (p.Ala87Asp)
c.277C>A
n.418C>A
11g.17387833C>ACA379775025KCNJ11c.31G>T (p.Ala11Ser)
c.-3G>T (n.-3G>T)
c.259G>T (p.Ala87Ser)
c.276G>T
n.417G>T
11g.17387833C=CA1955119410KCNJ11c.31G= (p.Ala11=)
c.-3G= (n.-3G=)
c.259G= (p.Ala87=)
c.276G=
n.417G=
11g.17387833C>GCA379775027KCNJ11c.31G>C (p.Ala11Pro)
c.-3G>C (n.-3G>C)
c.259G>C (p.Ala87Pro)
c.276G>C
n.417G>C
 dbSNP
11g.17387833C>TCA5902318KCNJ11c.31G>A (p.Ala11Thr)
c.-3G>A (n.-3G>A)
c.259G>A (p.Ala87Thr)
c.276G>A
n.417G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387834G>ACA5902319KCNJ11c.30C>T (p.Phe10=)
c.-4C>T (n.-4C>T)
c.258C>T (p.Phe86=)
c.275C>T
n.416C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387834G>CCA379775032KCNJ11c.30C>G (p.Phe10Leu)
c.-4C>G (n.-4C>G)
c.258C>G (p.Phe86Leu)
c.275C>G
n.416C>G
11g.17387834G=CA1955119411KCNJ11c.30C= (p.Phe10=)
c.-4C= (n.-4C=)
c.258C= (p.Phe86=)
c.275C=
n.416C=
11g.17387834G>TCA379775035KCNJ11c.30C>A (p.Phe10Leu)
c.-4C>A (n.-4C>A)
c.258C>A (p.Phe86Leu)
c.275C>A
n.416C>A
11g.17387835A>CCA379775040KCNJ11c.29T>G (p.Phe10Cys)
c.-5T>G (n.-5T>G)
c.257T>G (p.Phe86Cys)
c.274T>G
n.415T>G
11g.17387835A>GCA379775043KCNJ11c.29T>C (p.Phe10Ser)
c.-5T>C (n.-5T>C)
c.257T>C (p.Phe86Ser)
c.274T>C
n.415T>C
11g.17387835A>TCA379775047KCNJ11c.29T>A (p.Phe10Tyr)
c.-5T>A (n.-5T>A)
c.257T>A (p.Phe86Tyr)
c.274T>A
n.415T>A
11g.17387836A=CA1955119412KCNJ11c.28T= (p.Phe10=)
c.-6T= (n.-6T=)
c.256T= (p.Phe86=)
c.273T=
n.414T=
11g.17387836A>CCA379775060KCNJ11c.28T>G (p.Phe10Val)
c.-6T>G (n.-6T>G)
c.256T>G (p.Phe86Val)
c.273T>G
n.414T>G
11g.17387836A>GCA379775058KCNJ11c.28T>C (p.Phe10Leu)
c.-6T>C (n.-6T>C)
c.256T>C (p.Phe86Leu)
c.273T>C
n.414T>C
 dbSNP gnomAD v4
11g.17387836A>TCA379775050KCNJ11c.28T>A (p.Phe10Ile)
c.-6T>A (n.-6T>A)
c.256T>A (p.Phe86Ile)
c.273T>A
n.414T>A
11g.17387837G>ACA473515806KCNJ11c.27C>T (p.Leu9=)
c.-7C>T (n.-7C>T)
c.255C>T (p.Leu85=)
c.272C>T
n.413C>T
11g.17387837G>CCA473515808KCNJ11c.27C>G (p.Leu9=)
c.-7C>G (n.-7C>G)
c.255C>G (p.Leu85=)
c.272C>G
n.413C>G

Number of alleles fetched