Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387815_17387817dupCA2695213250KCNJ11c.49_51dup (p.Ile17_Ala18insIle)
c.16_18dup (p.Ile6_Ala7insIle)
c.277_279dup (p.Ile93_Ala94insIle)
c.294_296dup
n.435_437dup
11g.17387817A>CCA379774883KCNJ11c.47T>G (p.Leu16Arg)
c.14T>G (p.Leu5Arg)
c.275T>G (p.Leu92Arg)
c.292T>G
n.433T>G
11g.17387817A>GCA379774897KCNJ11c.47T>C (p.Leu16Pro)
c.14T>C (p.Leu5Pro)
c.275T>C (p.Leu92Pro)
c.292T>C
n.433T>C
11g.17387817A>TCA379774900KCNJ11c.47T>A (p.Leu16His)
c.14T>A (p.Leu5His)
c.275T>A (p.Leu92His)
c.292T>A
n.433T>A
11g.17387818G>ACA379774906KCNJ11c.46C>T (p.Leu16Phe)
c.13C>T (p.Leu5Phe)
c.274C>T (p.Leu92Phe)
c.291C>T
n.432C>T
11g.17387818G>CCA379774911KCNJ11c.46C>G (p.Leu16Val)
c.13C>G (p.Leu5Val)
c.274C>G (p.Leu92Val)
c.291C>G
n.432C>G
11g.17387818G>TCA379774915KCNJ11c.46C>A (p.Leu16Ile)
c.13C>A (p.Leu5Ile)
c.274C>A (p.Leu92Ile)
c.291C>A
n.432C>A
11g.17387819C>ACA379774918KCNJ11c.45G>T (p.Trp15Cys)
c.12G>T (p.Trp4Cys)
c.273G>T (p.Trp91Cys)
c.290G>T
n.431G>T
11g.17387819C>GCA379774920KCNJ11c.45G>C (p.Trp15Cys)
c.12G>C (p.Trp4Cys)
c.273G>C (p.Trp91Cys)
c.290G>C
n.431G>C
11g.17387819C>TCA379774922KCNJ11c.45G>A (p.Trp15Ter)
c.12G>A (p.Trp4Ter)
c.273G>A (p.Trp91Ter)
c.290G>A
n.431G>A
 gnomAD v4
11g.17387820C>ACA379774926KCNJ11c.44G>T (p.Trp15Leu)
c.11G>T (p.Trp4Leu)
c.272G>T (p.Trp91Leu)
c.289G>T
n.430G>T
11g.17387820C>GCA379774928KCNJ11c.44G>C (p.Trp15Ser)
c.11G>C (p.Trp4Ser)
c.272G>C (p.Trp91Ser)
c.289G>C
n.430G>C
11g.17387820C>TCA379774930KCNJ11c.44G>A (p.Trp15Ter)
c.11G>A (p.Trp4Ter)
c.272G>A (p.Trp91Ter)
c.289G>A
n.430G>A
11g.17387821A>CCA379774934KCNJ11c.43T>G (p.Trp15Gly)
c.10T>G (p.Trp4Gly)
c.271T>G (p.Trp91Gly)
c.288T>G
n.429T>G
11g.17387821A>GCA379774937KCNJ11c.43T>C (p.Trp15Arg)
c.10T>C (p.Trp4Arg)
c.271T>C (p.Trp91Arg)
c.288T>C
n.429T>C
 ClinVar
11g.17387821A>TCA379774936KCNJ11c.43T>A (p.Trp15Arg)
c.10T>A (p.Trp4Arg)
c.271T>A (p.Trp91Arg)
c.288T>A
n.429T>A
11g.17387822C>ACA379774938KCNJ11c.42G>T (p.Trp14Cys)
c.9G>T (p.Trp3Cys)
c.270G>T (p.Trp90Cys)
c.287G>T
n.428G>T
11g.17387822C>GCA379774940KCNJ11c.42G>C (p.Trp14Cys)
c.9G>C (p.Trp3Cys)
c.270G>C (p.Trp90Cys)
c.287G>C
n.428G>C
11g.17387822C>TCA379774942KCNJ11c.42G>A (p.Trp14Ter)
c.9G>A (p.Trp3Ter)
c.270G>A (p.Trp90Ter)
c.287G>A
n.428G>A
 gnomAD v4
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

Number of alleles fetched