Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387807G>ACA5902313KCNJ11c.57C>T (p.Phe19=)
c.24C>T (p.Phe8=)
c.285C>T (p.Phe95=)
c.302C>T
n.443C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387807G>CCA379774782KCNJ11c.57C>G (p.Phe19Leu)
c.24C>G (p.Phe8Leu)
c.285C>G (p.Phe95Leu)
c.302C>G
n.443C>G
11g.17387807G=CA1955119403KCNJ11c.57C= (p.Phe19=)
c.24C= (p.Phe8=)
c.285C= (p.Phe95=)
c.302C=
n.443C=
11g.17387807G>TCA379774783KCNJ11c.57C>A (p.Phe19Leu)
c.24C>A (p.Phe8Leu)
c.285C>A (p.Phe95Leu)
c.302C>A
n.443C>A
11g.17387808A>CCA379774794KCNJ11c.56T>G (p.Phe19Cys)
c.23T>G (p.Phe8Cys)
c.284T>G (p.Phe95Cys)
c.301T>G
n.442T>G
11g.17387808A>GCA379774791KCNJ11c.56T>C (p.Phe19Ser)
c.23T>C (p.Phe8Ser)
c.284T>C (p.Phe95Ser)
c.301T>C
n.442T>C
11g.17387808A>TCA379774787KCNJ11c.56T>A (p.Phe19Tyr)
c.23T>A (p.Phe8Tyr)
c.284T>A (p.Phe95Tyr)
c.301T>A
n.442T>A
11g.17387809A>CCA379774798KCNJ11c.55T>G (p.Phe19Val)
c.22T>G (p.Phe8Val)
c.283T>G (p.Phe95Val)
c.300T>G
n.441T>G
11g.17387809A>GCA379774801KCNJ11c.55T>C (p.Phe19Leu)
c.22T>C (p.Phe8Leu)
c.283T>C (p.Phe95Leu)
c.300T>C
n.441T>C
11g.17387809A>TCA379774805KCNJ11c.55T>A (p.Phe19Ile)
c.22T>A (p.Phe8Ile)
c.283T>A (p.Phe95Ile)
c.300T>A
n.441T>A
11g.17387810G>ACA473515794KCNJ11c.54C>T (p.Ala18=)
c.21C>T (p.Ala7=)
c.282C>T (p.Ala94=)
c.299C>T
n.440C>T
11g.17387810G>CCA473515795KCNJ11c.54C>G (p.Ala18=)
c.21C>G (p.Ala7=)
c.282C>G (p.Ala94=)
c.299C>G
n.440C>G
11g.17387810G>TCA473515796KCNJ11c.54C>A (p.Ala18=)
c.21C>A (p.Ala7=)
c.282C>A (p.Ala94=)
c.299C>A
n.440C>A
11g.17387811G>ACA379774810KCNJ11c.53C>T (p.Ala18Val)
c.20C>T (p.Ala7Val)
c.281C>T (p.Ala94Val)
c.298C>T
n.439C>T
 gnomAD v4
11g.17387811G>CCA379774814KCNJ11c.53C>G (p.Ala18Gly)
c.20C>G (p.Ala7Gly)
c.281C>G (p.Ala94Gly)
c.298C>G
n.439C>G
11g.17387811G>TCA379774818KCNJ11c.53C>A (p.Ala18Asp)
c.20C>A (p.Ala7Asp)
c.281C>A (p.Ala94Asp)
c.298C>A
n.439C>A
 gnomAD v3 gnomAD v4
11g.17387812C>ACA379774838KCNJ11c.52G>T (p.Ala18Ser)
c.19G>T (p.Ala7Ser)
c.280G>T (p.Ala94Ser)
c.297G>T
n.438G>T
 gnomAD v4
11g.17387812C=CA1955119404KCNJ11c.52G= (p.Ala18=)
c.19G= (p.Ala7=)
c.280G= (p.Ala94=)
c.297G=
n.438G=
11g.17387812C>GCA379774824KCNJ11c.52G>C (p.Ala18Pro)
c.19G>C (p.Ala7Pro)
c.280G>C (p.Ala94Pro)
c.297G>C
n.438G>C
 gnomAD v4
11g.17387812C>TCA5902314KCNJ11c.52G>A (p.Ala18Thr)
c.19G>A (p.Ala7Thr)
c.280G>A (p.Ala94Thr)
c.297G>A
n.438G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387813G>ACA5902315KCNJ11c.51C>T (p.Ile17=)
c.18C>T (p.Ile6=)
c.279C>T (p.Ile93=)
c.296C>T
n.437C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387813G>CCA379774846KCNJ11c.51C>G (p.Ile17Met)
c.18C>G (p.Ile6Met)
c.279C>G (p.Ile93Met)
c.296C>G
n.437C>G
11g.17387813G=CA1955119405KCNJ11c.51C= (p.Ile17=)
c.18C= (p.Ile6=)
c.279C= (p.Ile93=)
c.296C=
n.437C=
11g.17387813G>TCA473515797KCNJ11c.51C>A (p.Ile17=)
c.18C>A (p.Ile6=)
c.279C>A (p.Ile93=)
c.296C>A
n.437C>A
 gnomAD v4
11g.17387813dupCA2574767941KCNJ11c.51dup (p.Ala18ArgfsTer6)
c.18dup (p.Ala7ArgfsTer6)
c.279dup (p.Ala94ArgfsTer6)
c.296dup
n.437dup
 ClinVar
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.17387814A>CCA379774850KCNJ11c.50T>G (p.Ile17Ser)
c.17T>G (p.Ile6Ser)
c.278T>G (p.Ile93Ser)
c.295T>G
n.436T>G
11g.17387814A>GCA379774854KCNJ11c.50T>C (p.Ile17Thr)
c.17T>C (p.Ile6Thr)
c.278T>C (p.Ile93Thr)
c.295T>C
n.436T>C
11g.17387814A>TCA379774858KCNJ11c.50T>A (p.Ile17Asn)
c.17T>A (p.Ile6Asn)
c.278T>A (p.Ile93Asn)
c.295T>A
n.436T>A
11g.17387815T>ACA379774873KCNJ11c.49A>T (p.Ile17Phe)
c.16A>T (p.Ile6Phe)
c.277A>T (p.Ile93Phe)
c.294A>T
n.435A>T
11g.17387815T>CCA379774866KCNJ11c.49A>G (p.Ile17Val)
c.16A>G (p.Ile6Val)
c.277A>G (p.Ile93Val)
c.294A>G
n.435A>G
11g.17387815T>GCA379774870KCNJ11c.49A>C (p.Ile17Leu)
c.16A>C (p.Ile6Leu)
c.277A>C (p.Ile93Leu)
c.294A>C
n.435A>C
11g.17387816G>ACA5902316KCNJ11c.48C>T (p.Leu16=)
c.15C>T (p.Leu5=)
c.276C>T (p.Leu92=)
c.293C>T
n.434C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387816G>CCA473515799KCNJ11c.48C>G (p.Leu16=)
c.15C>G (p.Leu5=)
c.276C>G (p.Leu92=)
c.293C>G
n.434C>G
11g.17387816G=CA1955119406KCNJ11c.48C= (p.Leu16=)
c.15C= (p.Leu5=)
c.276C= (p.Leu92=)
c.293C=
n.434C=
11g.17387816G>TCA473515798KCNJ11c.48C>A (p.Leu16=)
c.15C>A (p.Leu5=)
c.276C>A (p.Leu92=)
c.293C>A
n.434C>A
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

Number of alleles fetched