Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387666G>A | CA473515565 | KCNJ11 | c.198C>T (p.Cys66=) c.165C>T (p.Cys55=) c.426C>T (p.Cys142=) c.443C>T n.584C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387666G>C | CA379773820 | KCNJ11 | c.198C>G (p.Cys66Trp) c.165C>G (p.Cys55Trp) c.426C>G (p.Cys142Trp) c.443C>G n.584C>G | |
11 | g.17387666G= | CA1955119351 | KCNJ11 | c.198C= (p.Cys66=) c.165C= (p.Cys55=) c.426C= (p.Cys142=) c.443C= n.584C= | |
11 | g.17387666G>T | CA379773825 | KCNJ11 | c.198C>A (p.Cys66Ter) c.165C>A (p.Cys55Ter) c.426C>A (p.Cys142Ter) c.443C>A n.584C>A | |
11 | g.17387667C>A | CA379773830 | KCNJ11 | c.197G>T (p.Cys66Phe) c.164G>T (p.Cys55Phe) c.425G>T (p.Cys142Phe) c.442G>T n.583G>T | |
11 | g.17387667C>G | CA379773837 | KCNJ11 | c.197G>C (p.Cys66Ser) c.164G>C (p.Cys55Ser) c.425G>C (p.Cys142Ser) c.442G>C n.583G>C | |
11 | g.17387667C>T | CA379773833 | KCNJ11 | c.197G>A (p.Cys66Tyr) c.164G>A (p.Cys55Tyr) c.425G>A (p.Cys142Tyr) c.442G>A n.583G>A | |
11 | g.17387668A>C | CA379773842 | KCNJ11 | c.196T>G (p.Cys66Gly) c.163T>G (p.Cys55Gly) c.424T>G (p.Cys142Gly) c.441T>G n.582T>G | gnomAD v4 |
11 | g.17387668A>G | CA379773846 | KCNJ11 | c.196T>C (p.Cys66Arg) c.163T>C (p.Cys55Arg) c.424T>C (p.Cys142Arg) c.441T>C n.582T>C | |
11 | g.17387668A>T | CA379773850 | KCNJ11 | c.196T>A (p.Cys66Ser) c.163T>A (p.Cys55Ser) c.424T>A (p.Cys142Ser) c.441T>A n.582T>A | |
11 | g.17387669C>A | CA379773855 | KCNJ11 | c.195G>T (p.Glu65Asp) c.162G>T (p.Glu54Asp) c.423G>T (p.Glu141Asp) c.440G>T n.581G>T | |
11 | g.17387669C>G | CA379773857 | KCNJ11 | c.195G>C (p.Glu65Asp) c.162G>C (p.Glu54Asp) c.423G>C (p.Glu141Asp) c.440G>C n.581G>C | |
11 | g.17387669C>T | CA473515566 | KCNJ11 | c.195G>A (p.Glu65=) c.162G>A (p.Glu54=) c.423G>A (p.Glu141=) c.440G>A n.581G>A | |
11 | g.17387670T>A | CA379773870 | KCNJ11 | c.194A>T (p.Glu65Val) c.161A>T (p.Glu54Val) c.422A>T (p.Glu141Val) c.439A>T n.580A>T | |
11 | g.17387670T>C | CA379773876 | KCNJ11 | c.194A>G (p.Glu65Gly) c.161A>G (p.Glu54Gly) c.422A>G (p.Glu141Gly) c.439A>G n.580A>G | |
11 | g.17387670T>G | CA379773883 | KCNJ11 | c.194A>C (p.Glu65Ala) c.161A>C (p.Glu54Ala) c.422A>C (p.Glu141Ala) c.439A>C n.580A>C | |
11 | g.17387671C>A | CA379773886 | KCNJ11 | c.193G>T (p.Glu65Ter) c.160G>T (p.Glu54Ter) c.421G>T (p.Glu141Ter) c.438G>T n.579G>T | |
11 | g.17387671C>G | CA379773887 | KCNJ11 | c.193G>C (p.Glu65Gln) c.160G>C (p.Glu54Gln) c.421G>C (p.Glu141Gln) c.438G>C n.579G>C | |
11 | g.17387671C>T | CA379773888 | KCNJ11 | c.193G>A (p.Glu65Lys) c.160G>A (p.Glu54Lys) c.421G>A (p.Glu141Lys) c.438G>A n.579G>A | gnomAD v4 |
11 | g.17387672C>A | CA379773889 | KCNJ11 | c.192G>T (p.Glu64Asp) c.159G>T (p.Glu53Asp) c.420G>T (p.Glu140Asp) c.437G>T n.578G>T | |
11 | g.17387672C>G | CA379773892 | KCNJ11 | c.192G>C (p.Glu64Asp) c.159G>C (p.Glu53Asp) c.420G>C (p.Glu140Asp) c.437G>C n.578G>C | |
11 | g.17387672C>T | CA473515567 | KCNJ11 | c.192G>A (p.Glu64=) c.159G>A (p.Glu53=) c.420G>A (p.Glu140=) c.437G>A n.578G>A | gnomAD v4 |
11 | g.17387673T>A | CA379773896 | KCNJ11 | c.191A>T (p.Glu64Val) c.158A>T (p.Glu53Val) c.419A>T (p.Glu140Val) c.436A>T n.577A>T | |
11 | g.17387673T>C | CA379773911 | KCNJ11 | c.191A>G (p.Glu64Gly) c.158A>G (p.Glu53Gly) c.419A>G (p.Glu140Gly) c.436A>G n.577A>G | |
11 | g.17387673T>G | CA379773898 | KCNJ11 | c.191A>C (p.Glu64Ala) c.158A>C (p.Glu53Ala) c.419A>C (p.Glu140Ala) c.436A>C n.577A>C | |
11 | g.17387674C>A | CA379773916 | KCNJ11 | c.190G>T (p.Glu64Ter) c.157G>T (p.Glu53Ter) c.418G>T (p.Glu140Ter) c.435G>T n.576G>T | |
11 | g.17387674C>G | CA379773922 | KCNJ11 | c.190G>C (p.Glu64Gln) c.157G>C (p.Glu53Gln) c.418G>C (p.Glu140Gln) c.435G>C n.576G>C | |
11 | g.17387674C>T | CA379773918 | KCNJ11 | c.190G>A (p.Glu64Lys) c.157G>A (p.Glu53Lys) c.418G>A (p.Glu140Lys) c.435G>A n.576G>A | gnomAD v4 COSMIC |
11 | g.17387675A>C | CA473515568 | KCNJ11 | c.189T>G (p.Thr63=) c.156T>G (p.Thr52=) c.417T>G (p.Thr139=) c.434T>G n.575T>G | gnomAD v4 |
11 | g.17387675A>G | CA473515569 | KCNJ11 | c.189T>C (p.Thr63=) c.156T>C (p.Thr52=) c.417T>C (p.Thr139=) c.434T>C n.575T>C | gnomAD v4 |
11 | g.17387675A>T | CA473515570 | KCNJ11 | c.189T>A (p.Thr63=) c.156T>A (p.Thr52=) c.417T>A (p.Thr139=) c.434T>A n.575T>A | COSMIC |
11 | g.17387676G>A | CA379773936 | KCNJ11 | c.188C>T (p.Thr63Ile) c.155C>T (p.Thr52Ile) c.416C>T (p.Thr139Ile) c.433C>T n.574C>T | |
11 | g.17387676G>C | CA379773938 | KCNJ11 | c.188C>G (p.Thr63Ser) c.155C>G (p.Thr52Ser) c.416C>G (p.Thr139Ser) c.433C>G n.574C>G | |
11 | g.17387676G>T | CA379773937 | KCNJ11 | c.188C>A (p.Thr63Asn) c.155C>A (p.Thr52Asn) c.416C>A (p.Thr139Asn) c.433C>A n.574C>A | |
11 | g.17387677T>A | CA379773941 | KCNJ11 | c.187A>T (p.Thr63Ser) c.154A>T (p.Thr52Ser) c.415A>T (p.Thr139Ser) c.432A>T n.573A>T | |
11 | g.17387677T>C | CA379773944 | KCNJ11 | c.187A>G (p.Thr63Ala) c.154A>G (p.Thr52Ala) c.415A>G (p.Thr139Ala) c.432A>G n.573A>G | |
11 | g.17387677T>G | CA379773942 | KCNJ11 | c.187A>C (p.Thr63Pro) c.154A>C (p.Thr52Pro) c.415A>C (p.Thr139Pro) c.432A>C n.573A>C | |
11 | g.17387678C>A | CA473515571 | KCNJ11 | c.186G>T (p.Val62=) c.153G>T (p.Val51=) c.414G>T (p.Val138=) c.431G>T n.572G>T | |
11 | g.17387678C>G | CA473515573 | KCNJ11 | c.186G>C (p.Val62=) c.153G>C (p.Val51=) c.414G>C (p.Val138=) c.431G>C n.572G>C | |
11 | g.17387678C>T | CA473515572 | KCNJ11 | c.186G>A (p.Val62=) c.153G>A (p.Val51=) c.414G>A (p.Val138=) c.431G>A n.572G>A | gnomAD v4 |
11 | g.17387679A>C | CA379773946 | KCNJ11 | c.185T>G (p.Val62Gly) c.152T>G (p.Val51Gly) c.413T>G (p.Val138Gly) c.430T>G n.571T>G | gnomAD v4 |
11 | g.17387679A>G | CA379773948 | KCNJ11 | c.185T>C (p.Val62Ala) c.152T>C (p.Val51Ala) c.413T>C (p.Val138Ala) c.430T>C n.571T>C | |
11 | g.17387679A>T | CA379773950 | KCNJ11 | c.185T>A (p.Val62Glu) c.152T>A (p.Val51Glu) c.413T>A (p.Val138Glu) c.430T>A n.571T>A | |
11 | g.17387680C>A | CA379773951 | KCNJ11 | c.184G>T (p.Val62Leu) c.151G>T (p.Val51Leu) c.412G>T (p.Val138Leu) c.429G>T n.570G>T | ClinVar dbSNP |
11 | g.17387680C= | CA1955119352 | KCNJ11 | c.184G= (p.Val62=) c.151G= (p.Val51=) c.412G= (p.Val138=) c.429G= n.570G= | |
11 | g.17387680C>G | CA379773952 | KCNJ11 | c.184G>C (p.Val62Leu) c.151G>C (p.Val51Leu) c.412G>C (p.Val138Leu) c.429G>C n.570G>C | |
11 | g.17387680C>T | CA379773953 | KCNJ11 | c.184G>A (p.Val62Met) c.151G>A (p.Val51Met) c.412G>A (p.Val138Met) c.429G>A n.570G>A | dbSNP |
11 | g.17387681C>A | CA379773954 | KCNJ11 | c.183G>T (p.Met61Ile) c.150G>T (p.Met50Ile) c.411G>T (p.Met137Ile) c.428G>T n.569G>T | |
11 | g.17387681C= | CA1955119353 | KCNJ11 | c.183G= (p.Met61=) c.150G= (p.Met50=) c.411G= (p.Met137=) c.428G= n.569G= | |
11 | g.17387681C>G | CA379773956 | KCNJ11 | c.183G>C (p.Met61Ile) c.150G>C (p.Met50Ile) c.411G>C (p.Met137Ile) c.428G>C n.569G>C | dbSNP |
11 | g.17387681C>T | CA5902291 | KCNJ11 | c.183G>A (p.Met61Ile) c.150G>A (p.Met50Ile) c.411G>A (p.Met137Ile) c.428G>A n.569G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387682A>C | CA379773961 | KCNJ11 | c.182T>G (p.Met61Arg) c.149T>G (p.Met50Arg) c.410T>G (p.Met137Arg) c.427T>G n.568T>G | |
11 | g.17387682A>G | CA379773960 | KCNJ11 | c.182T>C (p.Met61Thr) c.149T>C (p.Met50Thr) c.410T>C (p.Met137Thr) c.427T>C n.568T>C | |
11 | g.17387682A>T | CA379773959 | KCNJ11 | c.182T>A (p.Met61Lys) c.149T>A (p.Met50Lys) c.410T>A (p.Met137Lys) c.427T>A n.568T>A | |
11 | g.17387683T>A | CA379773964 | KCNJ11 | c.181A>T (p.Met61Leu) c.148A>T (p.Met50Leu) c.409A>T (p.Met137Leu) c.426A>T n.567A>T | COSMIC |
11 | g.17387683T>C | CA379773965 | KCNJ11 | c.181A>G (p.Met61Val) c.148A>G (p.Met50Val) c.409A>G (p.Met137Val) c.426A>G n.567A>G | |
11 | g.17387683T>G | CA379773967 | KCNJ11 | c.181A>C (p.Met61Leu) c.148A>C (p.Met50Leu) c.409A>C (p.Met137Leu) c.426A>C n.567A>C | |
11 | g.17387684G>A | CA473515574 | KCNJ11 | c.180C>T (p.Arg60=) c.147C>T (p.Arg49=) c.408C>T (p.Arg136=) c.425C>T n.566C>T | ClinVar gnomAD v4 |
11 | g.17387684G>C | CA473515575 | KCNJ11 | c.180C>G (p.Arg60=) c.147C>G (p.Arg49=) c.408C>G (p.Arg136=) c.425C>G n.566C>G | |
11 | g.17387684G>T | CA473515576 | KCNJ11 | c.180C>A (p.Arg60=) c.147C>A (p.Arg49=) c.408C>A (p.Arg136=) c.425C>A n.566C>A | |
11 | g.17387685C>A | CA379773968 | KCNJ11 | c.179G>T (p.Arg60Leu) c.146G>T (p.Arg49Leu) c.407G>T (p.Arg136Leu) c.424G>T n.565G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387685C= | CA1955119354 | KCNJ11 | c.179G= (p.Arg60=) c.146G= (p.Arg49=) c.407G= (p.Arg136=) c.424G= n.565G= | |
11 | g.17387685C>G | CA379773970 | KCNJ11 | c.179G>C (p.Arg60Pro) c.146G>C (p.Arg49Pro) c.407G>C (p.Arg136Pro) c.424G>C n.565G>C | |
11 | g.17387685C>T | CA379773972 | KCNJ11 | c.179G>A (p.Arg60His) c.146G>A (p.Arg49His) c.407G>A (p.Arg136His) c.424G>A n.565G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387686G>A | CA5902293 | KCNJ11 | c.178C>T (p.Arg60Cys) c.145C>T (p.Arg49Cys) c.406C>T (p.Arg136Cys) c.423C>T n.564C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387686G>C | CA379773976 | KCNJ11 | c.178C>G (p.Arg60Gly) c.145C>G (p.Arg49Gly) c.406C>G (p.Arg136Gly) c.423C>G n.564C>G | |
11 | g.17387686G= | CA1955119355 | KCNJ11 | c.178C= (p.Arg60=) c.145C= (p.Arg49=) c.406C= (p.Arg136=) c.423C= n.564C= | |
11 | g.17387686G>T | CA379773977 | KCNJ11 | c.178C>A (p.Arg60Ser) c.145C>A (p.Arg49Ser) c.406C>A (p.Arg136Ser) c.423C>A n.564C>A | ClinVar dbSNP |
11 | g.17387687C>A | CA5902294 | KCNJ11 | c.177G>T (p.Gly59=) c.144G>T (p.Gly48=) c.405G>T (p.Gly135=) c.422G>T n.563G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387687C= | CA1955119356 | KCNJ11 | c.177G= (p.Gly59=) c.144G= (p.Gly48=) c.405G= (p.Gly135=) c.422G= n.563G= | |
11 | g.17387687C>G | CA473515579 | KCNJ11 | c.177G>C (p.Gly59=) c.144G>C (p.Gly48=) c.405G>C (p.Gly135=) c.422G>C n.563G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387687C>T | CA473515577 | KCNJ11 | c.177G>A (p.Gly59=) c.144G>A (p.Gly48=) c.405G>A (p.Gly135=) c.422G>A n.563G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387692dup | CA5902292 | KCNJ11 | c.177dup (p.Arg60AlafsTer5) c.144dup (p.Arg49AlafsTer5) c.405dup (p.Arg136AlafsTer5) c.422dup n.563dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387692del | CA473515578 | KCNJ11 | c.177del (p.Arg60AlafsTer3) c.144del (p.Arg49AlafsTer3) c.405del (p.Arg136AlafsTer3) c.422del n.563del | gnomAD v4 COSMIC |
11 | g.17387688C>A | CA379773983 | KCNJ11 | c.176G>T (p.Gly59Val) c.143G>T (p.Gly48Val) c.404G>T (p.Gly135Val) c.421G>T n.562G>T | |
11 | g.17387688C= | CA1955119357 | KCNJ11 | c.176G= (p.Gly59=) c.143G= (p.Gly48=) c.404G= (p.Gly135=) c.421G= n.562G= | |
11 | g.17387688C>G | CA379773984 | KCNJ11 | c.176G>C (p.Gly59Ala) c.143G>C (p.Gly48Ala) c.404G>C (p.Gly135Ala) c.421G>C n.562G>C | |
11 | g.17387688C>T | CA5902295 | KCNJ11 | c.176G>A (p.Gly59Glu) c.143G>A (p.Gly48Glu) c.404G>A (p.Gly135Glu) c.421G>A n.562G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387689C>A | CA379773987 | KCNJ11 | c.175G>T (p.Gly59Trp) c.142G>T (p.Gly48Trp) c.403G>T (p.Gly135Trp) c.420G>T n.561G>T | |
11 | g.17387689C>G | CA379773989 | KCNJ11 | c.175G>C (p.Gly59Arg) c.142G>C (p.Gly48Arg) c.403G>C (p.Gly135Arg) c.420G>C n.561G>C | |
11 | g.17387689C>T | CA379773990 | KCNJ11 | c.175G>A (p.Gly59Arg) c.142G>A (p.Gly48Arg) c.403G>A (p.Gly135Arg) c.420G>A n.561G>A | |
11 | g.17387690C>A | CA473515580 | KCNJ11 | c.174G>T (p.Gly58=) c.141G>T (p.Gly47=) c.402G>T (p.Gly134=) c.419G>T n.560G>T | |
11 | g.17387690C>G | CA473515581 | KCNJ11 | c.174G>C (p.Gly58=) c.141G>C (p.Gly47=) c.402G>C (p.Gly134=) c.419G>C n.560G>C | |
11 | g.17387690C>T | CA473515582 | KCNJ11 | c.174G>A (p.Gly58=) c.141G>A (p.Gly47=) c.402G>A (p.Gly134=) c.419G>A n.560G>A | |
11 | g.17387691C>A | CA379773993 | KCNJ11 | c.173G>T (p.Gly58Val) c.140G>T (p.Gly47Val) c.401G>T (p.Gly134Val) c.418G>T n.559G>T | |
11 | g.17387691C= | CA1955119358 | KCNJ11 | c.173G= (p.Gly58=) c.140G= (p.Gly47=) c.401G= (p.Gly134=) c.418G= n.559G= | |
11 | g.17387691C>G | CA379773995 | KCNJ11 | c.173G>C (p.Gly58Ala) c.140G>C (p.Gly47Ala) c.401G>C (p.Gly134Ala) c.418G>C n.559G>C | dbSNP |
11 | g.17387691C>T | CA379773996 | KCNJ11 | c.173G>A (p.Gly58Glu) c.140G>A (p.Gly47Glu) c.401G>A (p.Gly134Glu) c.418G>A n.559G>A | |
11 | g.17387692C>A | CA379773999 | KCNJ11 | c.172G>T (p.Gly58Trp) c.139G>T (p.Gly47Trp) c.400G>T (p.Gly134Trp) c.417G>T n.558G>T | gnomAD v4 |
11 | g.17387692C>G | CA379774001 | KCNJ11 | c.172G>C (p.Gly58Arg) c.139G>C (p.Gly47Arg) c.400G>C (p.Gly134Arg) c.417G>C n.558G>C | |
11 | g.17387692C>T | CA379774003 | KCNJ11 | c.172G>A (p.Gly58Arg) c.139G>A (p.Gly47Arg) c.400G>A (p.Gly134Arg) c.417G>A n.558G>A | |
11 | g.17387693A>C | CA379774005 | KCNJ11 | c.171T>G (p.Phe57Leu) c.138T>G (p.Phe46Leu) c.399T>G (p.Phe133Leu) c.416T>G n.557T>G | |
11 | g.17387693A>G | CA473515583 | KCNJ11 | c.171T>C (p.Phe57=) c.138T>C (p.Phe46=) c.399T>C (p.Phe133=) c.416T>C n.557T>C | gnomAD v4 |
11 | g.17387693A>T | CA379774006 | KCNJ11 | c.171T>A (p.Phe57Leu) c.138T>A (p.Phe46Leu) c.399T>A (p.Phe133Leu) c.416T>A n.557T>A | |
11 | g.17387695del | CA2695201086 | KCNJ11 | c.171del (p.Phe57LeufsTer6) c.138del (p.Phe46LeufsTer6) c.399del (p.Phe133LeufsTer6) c.416del n.557del | ClinVar |
11 | g.17387694A>C | CA379774008 | KCNJ11 | c.170T>G (p.Phe57Cys) c.137T>G (p.Phe46Cys) c.398T>G (p.Phe133Cys) c.415T>G n.556T>G | |
11 | g.17387694A>G | CA379774009 | KCNJ11 | c.170T>C (p.Phe57Ser) c.137T>C (p.Phe46Ser) c.398T>C (p.Phe133Ser) c.415T>C n.556T>C | |
11 | g.17387694A>T | CA379774007 | KCNJ11 | c.170T>A (p.Phe57Tyr) c.137T>A (p.Phe46Tyr) c.398T>A (p.Phe133Tyr) c.415T>A n.556T>A | |
11 | g.17387695A>C | CA379774010 | KCNJ11 | c.169T>G (p.Phe57Val) c.136T>G (p.Phe46Val) c.397T>G (p.Phe133Val) c.414T>G n.555T>G | |
11 | g.17387695A>G | CA379774012 | KCNJ11 | c.169T>C (p.Phe57Leu) c.136T>C (p.Phe46Leu) c.397T>C (p.Phe133Leu) c.414T>C n.555T>C | |
11 | g.17387695A>T | CA379774014 | KCNJ11 | c.169T>A (p.Phe57Ile) c.136T>A (p.Phe46Ile) c.397T>A (p.Phe133Ile) c.414T>A n.555T>A | |
11 | g.17387696G>A | CA473515584 | KCNJ11 | c.168C>T (p.Gly56=) c.135C>T (p.Gly45=) c.396C>T (p.Gly132=) c.413C>T n.554C>T | |
11 | g.17387696G>C | CA473515585 | KCNJ11 | c.168C>G (p.Gly56=) c.135C>G (p.Gly45=) c.396C>G (p.Gly132=) c.413C>G n.554C>G | |
11 | g.17387696G>T | CA473515586 | KCNJ11 | c.168C>A (p.Gly56=) c.135C>A (p.Gly45=) c.396C>A (p.Gly132=) c.413C>A n.554C>A | |
11 | g.17387697C>A | CA379774016 | KCNJ11 | c.167G>T (p.Gly56Val) c.134G>T (p.Gly45Val) c.395G>T (p.Gly132Val) c.412G>T n.553G>T | |
11 | g.17387697C>G | CA379774018 | KCNJ11 | c.167G>C (p.Gly56Ala) c.134G>C (p.Gly45Ala) c.395G>C (p.Gly132Ala) c.412G>C n.553G>C | |
11 | g.17387697C>T | CA379774020 | KCNJ11 | c.167G>A (p.Gly56Asp) c.134G>A (p.Gly45Asp) c.395G>A (p.Gly132Asp) c.412G>A n.553G>A | |
11 | g.17387698C>A | CA379774022 | KCNJ11 | c.166G>T (p.Gly56Cys) c.133G>T (p.Gly45Cys) c.394G>T (p.Gly132Cys) c.411G>T n.552G>T | |
11 | g.17387698C>G | CA379774027 | KCNJ11 | c.166G>C (p.Gly56Arg) c.133G>C (p.Gly45Arg) c.394G>C (p.Gly132Arg) c.411G>C n.552G>C | |
11 | g.17387698C>T | CA379774025 | KCNJ11 | c.166G>A (p.Gly56Ser) c.133G>A (p.Gly45Ser) c.394G>A (p.Gly132Ser) c.411G>A n.552G>A | |
11 | g.17387699A>C | CA379774029 | KCNJ11 | c.165T>G (p.Ile55Met) c.132T>G (p.Ile44Met) c.393T>G (p.Ile131Met) c.410T>G n.551T>G | |
11 | g.17387699A>G | CA473515587 | KCNJ11 | c.165T>C (p.Ile55=) c.132T>C (p.Ile44=) c.393T>C (p.Ile131=) c.410T>C n.551T>C | ClinVar dbSNP |
11 | g.17387699A>T | CA473515589 | KCNJ11 | c.165T>A (p.Ile55=) c.132T>A (p.Ile44=) c.393T>A (p.Ile131=) c.410T>A n.551T>A | |
11 | g.17387700del | CA2739276315 | KCNJ11 | c.165del (p.Ile55MetfsTer8) c.132del (p.Ile44MetfsTer8) c.393del (p.Ile131MetfsTer8) c.410del n.551del | ClinVar |
11 | g.17387700_17387702dup | CA2695213244 | KCNJ11 | c.163_165dup (p.Ile55_Gly56insIle) c.130_132dup (p.Ile44_Gly45insIle) c.391_393dup (p.Ile131_Gly132insIle) c.408_410dup n.549_551dup | |
11 | g.17387699_17387702dup | CA2612639102 | KCNJ11 | c.162_165dup (p.Gly56TyrfsTer10) c.129_132dup (p.Gly45TyrfsTer10) c.390_393dup (p.Gly132TyrfsTer10) c.407_410dup n.548_551dup | gnomAD v4 |
11 | g.17387700A= | CA1955119359 | KCNJ11 | c.164T= (p.Ile55=) c.131T= (p.Ile44=) c.392T= (p.Ile131=) c.409T= n.550T= | |
11 | g.17387700A>C | CA379774031 | KCNJ11 | c.164T>G (p.Ile55Ser) c.131T>G (p.Ile44Ser) c.392T>G (p.Ile131Ser) c.409T>G n.550T>G | |
11 | g.17387700A>G | CA218399931 | KCNJ11 | c.164T>C (p.Ile55Thr) c.131T>C (p.Ile44Thr) c.392T>C (p.Ile131Thr) c.409T>C n.550T>C | dbSNP |
11 | g.17387700A>T | CA379774034 | KCNJ11 | c.164T>A (p.Ile55Asn) c.131T>A (p.Ile44Asn) c.392T>A (p.Ile131Asn) c.409T>A n.550T>A | |
11 | g.17387701T>A | CA379774040 | KCNJ11 | c.163A>T (p.Ile55Phe) c.130A>T (p.Ile44Phe) c.391A>T (p.Ile131Phe) c.408A>T n.549A>T | |
11 | g.17387701T>C | CA379774038 | KCNJ11 | c.163A>G (p.Ile55Val) c.130A>G (p.Ile44Val) c.391A>G (p.Ile131Val) c.408A>G n.549A>G | |
11 | g.17387701T>G | CA379774036 | KCNJ11 | c.163A>C (p.Ile55Leu) c.130A>C (p.Ile44Leu) c.391A>C (p.Ile131Leu) c.408A>C n.549A>C | |
11 | g.17387702A>C | CA473515592 | KCNJ11 | c.162T>G (p.Thr54=) c.129T>G (p.Thr43=) c.390T>G (p.Thr130=) c.407T>G n.548T>G | |
11 | g.17387702A>G | CA473515595 | KCNJ11 | c.162T>C (p.Thr54=) c.129T>C (p.Thr43=) c.390T>C (p.Thr130=) c.407T>C n.548T>C | |
11 | g.17387702A>T | CA473515593 | KCNJ11 | c.162T>A (p.Thr54=) c.129T>A (p.Thr43=) c.390T>A (p.Thr130=) c.407T>A n.548T>A | |
11 | g.17387703G>A | CA379774042 | KCNJ11 | c.161C>T (p.Thr54Ile) c.128C>T (p.Thr43Ile) c.389C>T (p.Thr130Ile) c.406C>T n.547C>T | gnomAD v4 |
11 | g.17387703G>C | CA379774045 | KCNJ11 | c.161C>G (p.Thr54Ser) c.128C>G (p.Thr43Ser) c.389C>G (p.Thr130Ser) c.406C>G n.547C>G | |
11 | g.17387703G>T | CA379774044 | KCNJ11 | c.161C>A (p.Thr54Asn) c.128C>A (p.Thr43Asn) c.389C>A (p.Thr130Asn) c.406C>A n.547C>A | |
11 | g.17387704T>A | CA379774051 | KCNJ11 | c.160A>T (p.Thr54Ser) c.127A>T (p.Thr43Ser) c.388A>T (p.Thr130Ser) c.405A>T n.546A>T | |
11 | g.17387704T>C | CA379774052 | KCNJ11 | c.160A>G (p.Thr54Ala) c.127A>G (p.Thr43Ala) c.388A>G (p.Thr130Ala) c.405A>G n.546A>G | gnomAD v4 |
11 | g.17387704T>G | CA379774053 | KCNJ11 | c.160A>C (p.Thr54Pro) c.127A>C (p.Thr43Pro) c.388A>C (p.Thr130Pro) c.405A>C n.546A>C | |
11 | g.17387705C>A | CA473515597 | KCNJ11 | c.159G>T (p.Val53=) c.126G>T (p.Val42=) c.387G>T (p.Val129=) c.404G>T n.545G>T | dbSNP |
11 | g.17387705C= | CA1955119360 | KCNJ11 | c.159G= (p.Val53=) c.126G= (p.Val42=) c.387G= (p.Val129=) c.404G= n.545G= | |
11 | g.17387705C>G | CA473515599 | KCNJ11 | c.159G>C (p.Val53=) c.126G>C (p.Val42=) c.387G>C (p.Val129=) c.404G>C n.545G>C | |
11 | g.17387705C>T | CA473515600 | KCNJ11 | c.159G>A (p.Val53=) c.126G>A (p.Val42=) c.387G>A (p.Val129=) c.404G>A n.545G>A | |
11 | g.17387706A>C | CA379774055 | KCNJ11 | c.158T>G (p.Val53Gly) c.125T>G (p.Val42Gly) c.386T>G (p.Val129Gly) c.403T>G n.544T>G | |
11 | g.17387706A>G | CA379774056 | KCNJ11 | c.158T>C (p.Val53Ala) c.125T>C (p.Val42Ala) c.386T>C (p.Val129Ala) c.403T>C n.544T>C | |
11 | g.17387706A>T | CA379774057 | KCNJ11 | c.158T>A (p.Val53Glu) c.125T>A (p.Val42Glu) c.386T>A (p.Val129Glu) c.403T>A n.544T>A | |
11 | g.17387707C>A | CA379774060 | KCNJ11 | c.157G>T (p.Val53Leu) c.124G>T (p.Val42Leu) c.385G>T (p.Val129Leu) c.402G>T n.543G>T | |
11 | g.17387707C>G | CA379774061 | KCNJ11 | c.157G>C (p.Val53Leu) c.124G>C (p.Val42Leu) c.385G>C (p.Val129Leu) c.402G>C n.543G>C | |
11 | g.17387707C>T | CA379774063 | KCNJ11 | c.157G>A (p.Val53Met) c.124G>A (p.Val42Met) c.385G>A (p.Val129Met) c.402G>A n.543G>A | |
11 | g.17387708T>A | CA379774066 | KCNJ11 | c.156A>T (p.Gln52His) c.123A>T (p.Gln41His) c.384A>T (p.Gln128His) c.401A>T n.542A>T | |
11 | g.17387708T>C | CA473515603 | KCNJ11 | c.156A>G (p.Gln52=) c.123A>G (p.Gln41=) c.384A>G (p.Gln128=) c.401A>G n.542A>G | |
11 | g.17387708T>G | CA379774067 | KCNJ11 | c.156A>C (p.Gln52His) c.123A>C (p.Gln41His) c.384A>C (p.Gln128His) c.401A>C n.542A>C | |
11 | g.17387709T>A | CA379774073 | KCNJ11 | c.155A>T (p.Gln52Leu) c.122A>T (p.Gln41Leu) c.383A>T (p.Gln128Leu) c.400A>T n.541A>T | |
11 | g.17387709T>C | CA379774072 | KCNJ11 | c.155A>G (p.Gln52Arg) c.122A>G (p.Gln41Arg) c.383A>G (p.Gln128Arg) c.400A>G n.541A>G | |
11 | g.17387709T>G | CA379774070 | KCNJ11 | c.155A>C (p.Gln52Pro) c.122A>C (p.Gln41Pro) c.383A>C (p.Gln128Pro) c.400A>C n.541A>C | |
11 | g.17387710G>A | CA379774075 | KCNJ11 | c.154C>T (p.Gln52Ter) c.121C>T (p.Gln41Ter) c.382C>T (p.Gln128Ter) c.399C>T n.540C>T | |
11 | g.17387710G>C | CA379774077 | KCNJ11 | c.154C>G (p.Gln52Glu) c.121C>G (p.Gln41Glu) c.382C>G (p.Gln128Glu) c.399C>G n.540C>G | gnomAD v4 |
11 | g.17387710G>T | CA379774078 | KCNJ11 | c.154C>A (p.Gln52Lys) c.121C>A (p.Gln41Lys) c.382C>A (p.Gln128Lys) c.399C>A n.540C>A | |
11 | g.17387711G>A | CA473515604 | KCNJ11 | c.153C>T (p.Val51=) c.120C>T (p.Val40=) c.381C>T (p.Val127=) c.398C>T n.539C>T | |
11 | g.17387711G>C | CA473515606 | KCNJ11 | c.153C>G (p.Val51=) c.120C>G (p.Val40=) c.381C>G (p.Val127=) c.398C>G n.539C>G | |
11 | g.17387711G>T | CA473515607 | KCNJ11 | c.153C>A (p.Val51=) c.120C>A (p.Val40=) c.381C>A (p.Val127=) c.398C>A n.539C>A | |
11 | g.17387712A>C | CA379774081 | KCNJ11 | c.152T>G (p.Val51Gly) c.119T>G (p.Val40Gly) c.380T>G (p.Val127Gly) c.397T>G n.538T>G | |
11 | g.17387712A>G | CA379774083 | KCNJ11 | c.152T>C (p.Val51Ala) c.119T>C (p.Val40Ala) c.380T>C (p.Val127Ala) c.397T>C n.538T>C | |
11 | g.17387712A>T | CA379774084 | KCNJ11 | c.152T>A (p.Val51Asp) c.119T>A (p.Val40Asp) c.380T>A (p.Val127Asp) c.397T>A n.538T>A | |
11 | g.17387713C>A | CA379774087 | KCNJ11 | c.151G>T (p.Val51Phe) c.118G>T (p.Val40Phe) c.379G>T (p.Val127Phe) c.396G>T n.537G>T | gnomAD v4 |
11 | g.17387713C= | CA1955119361 | KCNJ11 | c.151G= (p.Val51=) c.118G= (p.Val40=) c.379G= (p.Val127=) c.396G= n.537G= | |
11 | g.17387713C>G | CA379774089 | KCNJ11 | c.151G>C (p.Val51Leu) c.118G>C (p.Val40Leu) c.379G>C (p.Val127Leu) c.396G>C n.537G>C | |
11 | g.17387713C>T | CA379774091 | KCNJ11 | c.151G>A (p.Val51Ile) c.118G>A (p.Val40Ile) c.379G>A (p.Val127Ile) c.396G>A n.537G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387714C>A | CA379774094 | KCNJ11 | c.150G>T (p.Glu50Asp) c.117G>T (p.Glu39Asp) c.378G>T (p.Glu126Asp) c.395G>T n.536G>T | gnomAD v4 |
11 | g.17387714C= | CA1955119362 | KCNJ11 | c.150G= (p.Glu50=) c.117G= (p.Glu39=) c.378G= (p.Glu126=) c.395G= n.536G= | |
11 | g.17387714C>G | CA379774096 | KCNJ11 | c.150G>C (p.Glu50Asp) c.117G>C (p.Glu39Asp) c.378G>C (p.Glu126Asp) c.395G>C n.536G>C | |
11 | g.17387714C>T | CA473515609 | KCNJ11 | c.150G>A (p.Glu50=) c.117G>A (p.Glu39=) c.378G>A (p.Glu126=) c.395G>A n.536G>A | dbSNP gnomAD v4 |
11 | g.17387715T>A | CA379774101 | KCNJ11 | c.149A>T (p.Glu50Val) c.116A>T (p.Glu39Val) c.377A>T (p.Glu126Val) c.394A>T n.535A>T | |
11 | g.17387715T>C | CA379774100 | KCNJ11 | c.149A>G (p.Glu50Gly) c.116A>G (p.Glu39Gly) c.377A>G (p.Glu126Gly) c.394A>G n.535A>G | |
11 | g.17387715T>G | CA379774099 | KCNJ11 | c.149A>C (p.Glu50Ala) c.116A>C (p.Glu39Ala) c.377A>C (p.Glu126Ala) c.394A>C n.535A>C | |
11 | g.17387716C>A | CA379774103 | KCNJ11 | c.148G>T (p.Glu50Ter) c.115G>T (p.Glu39Ter) c.376G>T (p.Glu126Ter) c.393G>T n.534G>T | |
11 | g.17387716C>G | CA379774105 | KCNJ11 | c.148G>C (p.Glu50Gln) c.115G>C (p.Glu39Gln) c.376G>C (p.Glu126Gln) c.393G>C n.534G>C | |
11 | g.17387716C>T | CA379774106 | KCNJ11 | c.148G>A (p.Glu50Lys) c.115G>A (p.Glu39Lys) c.376G>A (p.Glu126Lys) c.393G>A n.534G>A | |
11 | g.17387717A>C | CA379774109 | KCNJ11 | c.147T>G (p.Ile49Met) c.114T>G (p.Ile38Met) c.375T>G (p.Ile125Met) c.392T>G n.533T>G | gnomAD v4 |
11 | g.17387717A>G | CA473515613 | KCNJ11 | c.147T>C (p.Ile49=) c.114T>C (p.Ile38=) c.375T>C (p.Ile125=) c.392T>C n.533T>C | |
11 | g.17387717A>T | CA473515614 | KCNJ11 | c.147T>A (p.Ile49=) c.114T>A (p.Ile38=) c.375T>A (p.Ile125=) c.392T>A n.533T>A | |
11 | g.17387718A>C | CA379774111 | KCNJ11 | c.146T>G (p.Ile49Ser) c.113T>G (p.Ile38Ser) c.374T>G (p.Ile125Ser) c.391T>G n.532T>G | |
11 | g.17387718A>G | CA379774113 | KCNJ11 | c.146T>C (p.Ile49Thr) c.113T>C (p.Ile38Thr) c.374T>C (p.Ile125Thr) c.391T>C n.532T>C | gnomAD v4 |
11 | g.17387718A>T | CA379774115 | KCNJ11 | c.146T>A (p.Ile49Asn) c.113T>A (p.Ile38Asn) c.374T>A (p.Ile125Asn) c.391T>A n.532T>A | |
11 | g.17387719T>A | CA379774117 | KCNJ11 | c.145A>T (p.Ile49Phe) c.112A>T (p.Ile38Phe) c.373A>T (p.Ile125Phe) c.390A>T n.531A>T | |
11 | g.17387719T>C | CA379774119 | KCNJ11 | c.145A>G (p.Ile49Val) c.112A>G (p.Ile38Val) c.373A>G (p.Ile125Val) c.390A>G n.531A>G | |
11 | g.17387719T>G | CA379774121 | KCNJ11 | c.145A>C (p.Ile49Leu) c.112A>C (p.Ile38Leu) c.373A>C (p.Ile125Leu) c.390A>C n.531A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387719T= | CA1955119363 | KCNJ11 | c.145A= (p.Ile49=) c.112A= (p.Ile38=) c.373A= (p.Ile125=) c.390A= n.531A= | |
11 | g.17387720G>A | CA473515618 | KCNJ11 | c.144C>T (p.Ser48=) c.111C>T (p.Ser37=) c.372C>T (p.Ser124=) c.389C>T n.530C>T | |
11 | g.17387720G>C | CA473515619 | KCNJ11 | c.144C>G (p.Ser48=) c.111C>G (p.Ser37=) c.372C>G (p.Ser124=) c.389C>G n.530C>G | |
11 | g.17387720G>T | CA473515620 | KCNJ11 | c.144C>A (p.Ser48=) c.111C>A (p.Ser37=) c.372C>A (p.Ser124=) c.389C>A n.530C>A | |
11 | g.17387721G>A | CA379774123 | KCNJ11 | c.143C>T (p.Ser48Phe) c.110C>T (p.Ser37Phe) c.371C>T (p.Ser124Phe) c.388C>T n.529C>T | |
11 | g.17387721G>C | CA379774125 | KCNJ11 | c.143C>G (p.Ser48Cys) c.110C>G (p.Ser37Cys) c.371C>G (p.Ser124Cys) c.388C>G n.529C>G | |
11 | g.17387721G>T | CA379774127 | KCNJ11 | c.143C>A (p.Ser48Tyr) c.110C>A (p.Ser37Tyr) c.371C>A (p.Ser124Tyr) c.388C>A n.529C>A | |
11 | g.17387722A>C | CA379774132 | KCNJ11 | c.142T>G (p.Ser48Ala) c.109T>G (p.Ser37Ala) c.370T>G (p.Ser124Ala) c.387T>G n.528T>G | |
11 | g.17387722A>G | CA379774129 | KCNJ11 | c.142T>C (p.Ser48Pro) c.109T>C (p.Ser37Pro) c.370T>C (p.Ser124Pro) c.387T>C n.528T>C | |
11 | g.17387722A>T | CA379774131 | KCNJ11 | c.142T>A (p.Ser48Thr) c.109T>A (p.Ser37Thr) c.370T>A (p.Ser124Thr) c.387T>A n.528T>A | |
11 | g.17387723G>A | CA473515624 | KCNJ11 | c.141C>T (p.Phe47=) c.108C>T (p.Phe36=) c.369C>T (p.Phe123=) c.386C>T n.527C>T | |
11 | g.17387723G>C | CA379774134 | KCNJ11 | c.141C>G (p.Phe47Leu) c.108C>G (p.Phe36Leu) c.369C>G (p.Phe123Leu) c.386C>G n.527C>G | |
11 | g.17387723G= | CA1955119364 | KCNJ11 | c.141C= (p.Phe47=) c.108C= (p.Phe36=) c.369C= (p.Phe123=) c.386C= n.527C= | |
11 | g.17387723G>T | CA379774135 | KCNJ11 | c.141C>A (p.Phe47Leu) c.108C>A (p.Phe36Leu) c.369C>A (p.Phe123Leu) c.386C>A n.527C>A | |
11 | g.17387724A>C | CA379774137 | KCNJ11 | c.140T>G (p.Phe47Cys) c.107T>G (p.Phe36Cys) c.368T>G (p.Phe123Cys) c.385T>G n.526T>G | |
11 | g.17387724A>G | CA379774139 | KCNJ11 | c.140T>C (p.Phe47Ser) c.107T>C (p.Phe36Ser) c.368T>C (p.Phe123Ser) c.385T>C n.526T>C | |
11 | g.17387724A>T | CA379774141 | KCNJ11 | c.140T>A (p.Phe47Tyr) c.107T>A (p.Phe36Tyr) c.368T>A (p.Phe123Tyr) c.385T>A n.526T>A | |
11 | g.17387727dup | CA658797595 | KCNJ11 | c.140dup (p.Ser48LeufsTer3) c.107dup (p.Ser37LeufsTer3) c.368dup (p.Ser124LeufsTer3) c.385dup n.526dup | ClinVar dbSNP gnomAD v4 |
11 | g.17387727del | CA2831039173 | KCNJ11 | c.140del (p.Phe47SerfsTer7) c.107del (p.Phe36SerfsTer7) c.368del (p.Phe123SerfsTer7) c.385del n.526del | |
11 | g.17387725A= | CA1955119365 | KCNJ11 | c.139T= (p.Phe47=) c.106T= (p.Phe36=) c.367T= (p.Phe123=) c.384T= n.525T= | |
11 | g.17387725A>C | CA379774143 | KCNJ11 | c.139T>G (p.Phe47Val) c.106T>G (p.Phe36Val) c.367T>G (p.Phe123Val) c.384T>G n.525T>G | |
11 | g.17387725A>G | CA379774145 | KCNJ11 | c.139T>C (p.Phe47Leu) c.106T>C (p.Phe36Leu) c.367T>C (p.Phe123Leu) c.384T>C n.525T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387725A>T | CA379774147 | KCNJ11 | c.139T>A (p.Phe47Ile) c.106T>A (p.Phe36Ile) c.367T>A (p.Phe123Ile) c.384T>A n.525T>A | |
11 | g.17387725_17387729delinsAAAGG | CA1955119366 | KCNJ11 | c.135_139delinsCCTTT (p.Phe45=) c.102_106delinsCCTTT (p.Phe34=) c.363_367delinsCCTTT (p.Phe121=) c.380_384delinsCCTTT n.521_525delinsCCTTT | |
11 | g.17387727_17387731del | CA912971884 | KCNJ11 | c.135_139del (p.Phe47HisfsTer2) c.102_106del (p.Phe36HisfsTer2) c.363_367del (p.Phe123HisfsTer2) c.380_384del n.521_525del | |
11 | g.17387726_17387751del | CA2695213246 | KCNJ11 | c.114_139del (p.His39LeufsTer3) c.81_106del (p.His28LeufsTer3) c.342_367del (p.His115LeufsTer3) c.359_384del n.500_525del | |
11 | g.17387726A>C | CA473515627 | KCNJ11 | c.138T>G (p.Leu46=) c.105T>G (p.Leu35=) c.366T>G (p.Leu122=) c.383T>G n.524T>G | |
11 | g.17387726A>G | CA473515628 | KCNJ11 | c.138T>C (p.Leu46=) c.105T>C (p.Leu35=) c.366T>C (p.Leu122=) c.383T>C n.524T>C | gnomAD v4 |
11 | g.17387726A>T | CA473515629 | KCNJ11 | c.138T>A (p.Leu46=) c.105T>A (p.Leu35=) c.366T>A (p.Leu122=) c.383T>A n.524T>A | |
11 | g.17387730_17387733del | CA658822455 | KCNJ11 | c.135_138del (p.Leu46SerfsTer7) c.102_105del (p.Leu35SerfsTer7) c.363_366del (p.Leu122SerfsTer7) c.380_383del n.521_524del | ClinVar dbSNP |
11 | g.17387727A= | CA1955119367 | KCNJ11 | c.137T= (p.Leu46=) c.104T= (p.Leu35=) c.365T= (p.Leu122=) c.382T= n.523T= | |
11 | g.17387727A>C | CA379774148 | KCNJ11 | c.137T>G (p.Leu46Arg) c.104T>G (p.Leu35Arg) c.365T>G (p.Leu122Arg) c.382T>G n.523T>G | COSMIC |
11 | g.17387727A>G | CA379774149 | KCNJ11 | c.137T>C (p.Leu46Pro) c.104T>C (p.Leu35Pro) c.365T>C (p.Leu122Pro) c.382T>C n.523T>C | ClinVar dbSNP |
11 | g.17387727A>T | CA379774151 | KCNJ11 | c.137T>A (p.Leu46His) c.104T>A (p.Leu35His) c.365T>A (p.Leu122His) c.382T>A n.523T>A | |
11 | g.17387728G>A | CA379774157 | KCNJ11 | c.136C>T (p.Leu46Phe) c.103C>T (p.Leu35Phe) c.364C>T (p.Leu122Phe) c.381C>T n.522C>T | gnomAD v4 COSMIC |
11 | g.17387728G>C | CA379774155 | KCNJ11 | c.136C>G (p.Leu46Val) c.103C>G (p.Leu35Val) c.364C>G (p.Leu122Val) c.381C>G n.522C>G | |
11 | g.17387728G>T | CA379774153 | KCNJ11 | c.136C>A (p.Leu46Ile) c.103C>A (p.Leu35Ile) c.364C>A (p.Leu122Ile) c.381C>A n.522C>A | |
11 | g.17387729G>A | CA473515631 | KCNJ11 | c.135C>T (p.Phe45=) c.102C>T (p.Phe34=) c.363C>T (p.Phe121=) c.380C>T n.521C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.17387729G>C | CA379774158 | KCNJ11 | c.135C>G (p.Phe45Leu) c.102C>G (p.Phe34Leu) c.363C>G (p.Phe121Leu) c.380C>G n.521C>G | |
11 | g.17387729G= | CA1955119368 | KCNJ11 | c.135C= (p.Phe45=) c.102C= (p.Phe34=) c.363C= (p.Phe121=) c.380C= n.521C= | |
11 | g.17387729G>T | CA379774159 | KCNJ11 | c.135C>A (p.Phe45Leu) c.102C>A (p.Phe34Leu) c.363C>A (p.Phe121Leu) c.380C>A n.521C>A | |
11 | g.17387730A>C | CA379774160 | KCNJ11 | c.134T>G (p.Phe45Cys) c.101T>G (p.Phe34Cys) c.362T>G (p.Phe121Cys) c.379T>G n.520T>G | |
11 | g.17387730A>G | CA379774165 | KCNJ11 | c.134T>C (p.Phe45Ser) c.101T>C (p.Phe34Ser) c.362T>C (p.Phe121Ser) c.379T>C n.520T>C | |
11 | g.17387730A>T | CA379774162 | KCNJ11 | c.134T>A (p.Phe45Tyr) c.101T>A (p.Phe34Tyr) c.362T>A (p.Phe121Tyr) c.379T>A n.520T>A | |
11 | g.17387731A>C | CA379774169 | KCNJ11 | c.133T>G (p.Phe45Val) c.100T>G (p.Phe34Val) c.361T>G (p.Phe121Val) c.378T>G n.519T>G | |
11 | g.17387731A>G | CA379774171 | KCNJ11 | c.133T>C (p.Phe45Leu) c.100T>C (p.Phe34Leu) c.361T>C (p.Phe121Leu) c.378T>C n.519T>C | |
11 | g.17387731A>T | CA379774174 | KCNJ11 | c.133T>A (p.Phe45Ile) c.100T>A (p.Phe34Ile) c.361T>A (p.Phe121Ile) c.378T>A n.519T>A | |
11 | g.17387732G>A | CA473515634 | KCNJ11 | c.132C>T (p.Ala44=) c.99C>T (p.Ala33=) c.360C>T (p.Ala120=) c.377C>T n.518C>T | |
11 | g.17387732G>C | CA473515635 | KCNJ11 | c.132C>G (p.Ala44=) c.99C>G (p.Ala33=) c.360C>G (p.Ala120=) c.377C>G n.518C>G | |
11 | g.17387732G>T | CA473515636 | KCNJ11 | c.132C>A (p.Ala44=) c.99C>A (p.Ala33=) c.360C>A (p.Ala120=) c.377C>A n.518C>A | |
11 | g.17387733G>A | CA379774177 | KCNJ11 | c.131C>T (p.Ala44Val) c.98C>T (p.Ala33Val) c.359C>T (p.Ala120Val) c.376C>T n.517C>T | |
11 | g.17387733G>C | CA379774179 | KCNJ11 | c.131C>G (p.Ala44Gly) c.98C>G (p.Ala33Gly) c.359C>G (p.Ala120Gly) c.376C>G n.517C>G | |
11 | g.17387733G>T | CA379774182 | KCNJ11 | c.131C>A (p.Ala44Asp) c.98C>A (p.Ala33Asp) c.359C>A (p.Ala120Asp) c.376C>A n.517C>A | |
11 | g.17387733_17387734delinsGC | CA1955119369 | KCNJ11 | c.130_131delinsGC (p.Ala44=) c.97_98delinsGC (p.Ala33=) c.358_359delinsGC (p.Ala120=) c.375_376delinsGC n.516_517delinsGC | |
11 | g.17387734del | CA597904312 | KCNJ11 | c.130del (p.Ala44ProfsTer10) c.97del (p.Ala33ProfsTer10) c.358del (p.Ala120ProfsTer10) c.375del n.516del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387734C>A | CA379774186 | KCNJ11 | c.130G>T (p.Ala44Ser) c.97G>T (p.Ala33Ser) c.358G>T (p.Ala120Ser) c.375G>T n.516G>T | |
11 | g.17387734C= | CA1955119370 | KCNJ11 | c.130G= (p.Ala44=) c.97G= (p.Ala33=) c.358G= (p.Ala120=) c.375G= n.516G= | |
11 | g.17387734C>G | CA379774189 | KCNJ11 | c.130G>C (p.Ala44Pro) c.97G>C (p.Ala33Pro) c.358G>C (p.Ala120Pro) c.375G>C n.516G>C | |
11 | g.17387734C>T | CA379774191 | KCNJ11 | c.130G>A (p.Ala44Thr) c.97G>A (p.Ala33Thr) c.358G>A (p.Ala120Thr) c.375G>A n.516G>A | dbSNP |
11 | g.17387735A= | CA1955119371 | KCNJ11 | c.129T= (p.Ser43=) c.96T= (p.Ser32=) c.357T= (p.Ser119=) c.374T= n.515T= | |
11 | g.17387735A>C | CA473515637 | KCNJ11 | c.129T>G (p.Ser43=) c.96T>G (p.Ser32=) c.357T>G (p.Ser119=) c.374T>G n.515T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387735A>G | CA473515638 | KCNJ11 | c.129T>C (p.Ser43=) c.96T>C (p.Ser32=) c.357T>C (p.Ser119=) c.374T>C n.515T>C | |
11 | g.17387735A>T | CA473515640 | KCNJ11 | c.129T>A (p.Ser43=) c.96T>A (p.Ser32=) c.357T>A (p.Ser119=) c.374T>A n.515T>A | |
11 | g.17387736G>A | CA379774195 | KCNJ11 | c.128C>T (p.Ser43Phe) c.95C>T (p.Ser32Phe) c.356C>T (p.Ser119Phe) c.373C>T n.514C>T | |
11 | g.17387736G>C | CA379774199 | KCNJ11 | c.128C>G (p.Ser43Cys) c.95C>G (p.Ser32Cys) c.356C>G (p.Ser119Cys) c.373C>G n.514C>G | |
11 | g.17387736G>T | CA379774212 | KCNJ11 | c.128C>A (p.Ser43Tyr) c.95C>A (p.Ser32Tyr) c.356C>A (p.Ser119Tyr) c.373C>A n.514C>A | |
11 | g.17387736dup | CA2695213247 | KCNJ11 | c.128dup (p.Ala44CysfsTer7) c.95dup (p.Ala33CysfsTer7) c.356dup (p.Ala120CysfsTer7) c.373dup n.514dup | |
11 | g.17387737A= | CA1955119372 | KCNJ11 | c.127T= (p.Ser43=) c.94T= (p.Ser32=) c.355T= (p.Ser119=) c.372T= n.513T= | |
11 | g.17387737A>C | CA5902296 | KCNJ11 | c.127T>G (p.Ser43Ala) c.94T>G (p.Ser32Ala) c.355T>G (p.Ser119Ala) c.372T>G n.513T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387737A>G | CA379774215 | KCNJ11 | c.127T>C (p.Ser43Pro) c.94T>C (p.Ser32Pro) c.355T>C (p.Ser119Pro) c.372T>C n.513T>C | |
11 | g.17387737A>T | CA379774217 | KCNJ11 | c.127T>A (p.Ser43Thr) c.94T>A (p.Ser32Thr) c.355T>A (p.Ser119Thr) c.372T>A n.513T>A | |
11 | g.17387738C>A | CA473515644 | KCNJ11 | c.126G>T (p.Ser42=) c.93G>T (p.Ser31=) c.354G>T (p.Ser118=) c.371G>T n.512G>T | |
11 | g.17387738C= | CA1955119373 | KCNJ11 | c.126G= (p.Ser42=) c.93G= (p.Ser31=) c.354G= (p.Ser118=) c.371G= n.512G= | |
11 | g.17387738C>G | CA473515641 | KCNJ11 | c.126G>C (p.Ser42=) c.93G>C (p.Ser31=) c.354G>C (p.Ser118=) c.371G>C n.512G>C | gnomAD v4 |
11 | g.17387738C>T | CA5902297 | KCNJ11 | c.126G>A (p.Ser42=) c.93G>A (p.Ser31=) c.354G>A (p.Ser118=) c.371G>A n.512G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387739G>A | CA5902299 | KCNJ11 | c.125C>T (p.Ser42Leu) c.92C>T (p.Ser31Leu) c.353C>T (p.Ser118Leu) c.370C>T n.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387739G>C | CA379774228 | KCNJ11 | c.125C>G (p.Ser42Trp) c.92C>G (p.Ser31Trp) c.353C>G (p.Ser118Trp) c.370C>G n.511C>G | |
11 | g.17387739G= | CA1955119375 | KCNJ11 | c.125C= (p.Ser42=) c.92C= (p.Ser31=) c.353C= (p.Ser118=) c.370C= n.511C= | |
11 | g.17387739G>T | CA379774230 | KCNJ11 | c.125C>A (p.Ser42Ter) c.92C>A (p.Ser31Ter) c.353C>A (p.Ser118Ter) c.370C>A n.511C>A | |
11 | g.17387739_17387742delinsGAGA | CA1955119374 | KCNJ11 | c.122_125delinsTCTC (p.Phe41=) c.89_92delinsTCTC (p.Phe30=) c.350_353delinsTCTC (p.Phe117=) c.367_370delinsTCTC n.508_511delinsTCTC | |
11 | g.17387742_17387747del | CA2695213248 | KCNJ11 | c.120_125del (p.Phe41_Ser42del) c.87_92del (p.Phe30_Ser31del) c.348_353del (p.Phe117_Ser118del) c.365_370del n.506_511del | |
11 | g.17387740A>C | CA379774236 | KCNJ11 | c.124T>G (p.Ser42Ala) c.91T>G (p.Ser31Ala) c.352T>G (p.Ser118Ala) c.369T>G n.510T>G | |
11 | g.17387740A>G | CA379774238 | KCNJ11 | c.124T>C (p.Ser42Pro) c.91T>C (p.Ser31Pro) c.352T>C (p.Ser118Pro) c.369T>C n.510T>C | |
11 | g.17387740A>T | CA379774241 | KCNJ11 | c.124T>A (p.Ser42Thr) c.91T>A (p.Ser31Thr) c.352T>A (p.Ser118Thr) c.369T>A n.510T>A | |
11 | g.17387742_17387744del | CA5902298 | KCNJ11 | c.122_124del (p.Phe41del) c.89_91del (p.Phe30del) c.350_352del (p.Phe117del) c.367_369del n.508_510del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387741G>A | CA473515646 | KCNJ11 | c.123C>T (p.Phe41=) c.90C>T (p.Phe30=) c.351C>T (p.Phe117=) c.368C>T n.509C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387741G>C | CA379774246 | KCNJ11 | c.123C>G (p.Phe41Leu) c.90C>G (p.Phe30Leu) c.351C>G (p.Phe117Leu) c.368C>G n.509C>G | |
11 | g.17387741G= | CA1955119376 | KCNJ11 | c.123C= (p.Phe41=) c.90C= (p.Phe30=) c.351C= (p.Phe117=) c.368C= n.509C= | |
11 | g.17387741G>T | CA379774248 | KCNJ11 | c.123C>A (p.Phe41Leu) c.90C>A (p.Phe30Leu) c.351C>A (p.Phe117Leu) c.368C>A n.509C>A | |
11 | g.17387742A>C | CA379774256 | KCNJ11 | c.122T>G (p.Phe41Cys) c.89T>G (p.Phe30Cys) c.350T>G (p.Phe117Cys) c.367T>G n.508T>G | |
11 | g.17387742A>G | CA379774254 | KCNJ11 | c.122T>C (p.Phe41Ser) c.89T>C (p.Phe30Ser) c.350T>C (p.Phe117Ser) c.367T>C n.508T>C | |
11 | g.17387742A>T | CA379774251 | KCNJ11 | c.122T>A (p.Phe41Tyr) c.89T>A (p.Phe30Tyr) c.350T>A (p.Phe117Tyr) c.367T>A n.508T>A | |
11 | g.17387743A>C | CA379774260 | KCNJ11 | c.121T>G (p.Phe41Val) c.88T>G (p.Phe30Val) c.349T>G (p.Phe117Val) c.366T>G n.507T>G | |
11 | g.17387743A>G | CA379774263 | KCNJ11 | c.121T>C (p.Phe41Leu) c.88T>C (p.Phe30Leu) c.349T>C (p.Phe117Leu) c.366T>C n.507T>C | |
11 | g.17387743A>T | CA379774265 | KCNJ11 | c.121T>A (p.Phe41Ile) c.88T>A (p.Phe30Ile) c.349T>A (p.Phe117Ile) c.366T>A n.507T>A | |
11 | g.17387744G>A | CA473515650 | KCNJ11 | c.120C>T (p.Ser40=) c.87C>T (p.Ser29=) c.348C>T (p.Ser116=) c.365C>T n.506C>T | gnomAD v4 |
11 | g.17387744G>C | CA473515651 | KCNJ11 | c.120C>G (p.Ser40=) c.87C>G (p.Ser29=) c.348C>G (p.Ser116=) c.365C>G n.506C>G | |
11 | g.17387744G>T | CA473515652 | KCNJ11 | c.120C>A (p.Ser40=) c.87C>A (p.Ser29=) c.348C>A (p.Ser116=) c.365C>A n.506C>A | |
11 | g.17387745G>A | CA379774270 | KCNJ11 | c.119C>T (p.Ser40Phe) c.86C>T (p.Ser29Phe) c.347C>T (p.Ser116Phe) c.364C>T n.505C>T | |
11 | g.17387745G>C | CA379774273 | KCNJ11 | c.119C>G (p.Ser40Cys) c.86C>G (p.Ser29Cys) c.347C>G (p.Ser116Cys) c.364C>G n.505C>G | |
11 | g.17387745G>T | CA379774275 | KCNJ11 | c.119C>A (p.Ser40Tyr) c.86C>A (p.Ser29Tyr) c.347C>A (p.Ser116Tyr) c.364C>A n.505C>A | |
11 | g.17387746A= | CA1955119377 | KCNJ11 | c.118T= (p.Ser40=) c.85T= (p.Ser29=) c.346T= (p.Ser116=) c.363T= n.504T= | |
11 | g.17387746A>C | CA379774280 | KCNJ11 | c.118T>G (p.Ser40Ala) c.85T>G (p.Ser29Ala) c.346T>G (p.Ser116Ala) c.363T>G n.504T>G | |
11 | g.17387746A>G | CA379774284 | KCNJ11 | c.118T>C (p.Ser40Pro) c.85T>C (p.Ser29Pro) c.346T>C (p.Ser116Pro) c.363T>C n.504T>C | ClinVar dbSNP gnomAD v4 |
11 | g.17387746A>T | CA379774286 | KCNJ11 | c.118T>A (p.Ser40Thr) c.85T>A (p.Ser29Thr) c.346T>A (p.Ser116Thr) c.363T>A n.504T>A | |
11 | g.17387747G>A | CA218399978 | KCNJ11 | c.117C>T (p.His39=) c.84C>T (p.His28=) c.345C>T (p.His115=) c.362C>T n.503C>T | dbSNP |
11 | g.17387747G>C | CA379774292 | KCNJ11 | c.117C>G (p.His39Gln) c.84C>G (p.His28Gln) c.345C>G (p.His115Gln) c.362C>G n.503C>G | |
11 | g.17387747G= | CA1955119378 | KCNJ11 | c.117C= (p.His39=) c.84C= (p.His28=) c.345C= (p.His115=) c.362C= n.503C= | |
11 | g.17387747G>T | CA379774294 | KCNJ11 | c.117C>A (p.His39Gln) c.84C>A (p.His28Gln) c.345C>A (p.His115Gln) c.362C>A n.503C>A | |
11 | g.17387748T>A | CA379774304 | KCNJ11 | c.116A>T (p.His39Leu) c.83A>T (p.His28Leu) c.344A>T (p.His115Leu) c.361A>T n.502A>T | ClinVar |
11 | g.17387748T>C | CA218399984 | KCNJ11 | c.116A>G (p.His39Arg) c.83A>G (p.His28Arg) c.344A>G (p.His115Arg) c.361A>G n.502A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387748T>G | CA379774299 | KCNJ11 | c.116A>C (p.His39Pro) c.83A>C (p.His28Pro) c.344A>C (p.His115Pro) c.361A>C n.502A>C | |
11 | g.17387748T= | CA1955119379 | KCNJ11 | c.116A= (p.His39=) c.83A= (p.His28=) c.344A= (p.His115=) c.361A= n.502A= | |
11 | g.17387749G>A | CA379774309 | KCNJ11 | c.115C>T (p.His39Tyr) c.82C>T (p.His28Tyr) c.343C>T (p.His115Tyr) c.360C>T n.501C>T | |
11 | g.17387749G>C | CA379774311 | KCNJ11 | c.115C>G (p.His39Asp) c.82C>G (p.His28Asp) c.343C>G (p.His115Asp) c.360C>G n.501C>G | |
11 | g.17387749G>T | CA379774315 | KCNJ11 | c.115C>A (p.His39Asn) c.82C>A (p.His28Asn) c.343C>A (p.His115Asn) c.360C>A n.501C>A | |
11 | g.17387750G>A | CA473515656 | KCNJ11 | c.114C>T (p.Ile38=) c.81C>T (p.Ile27=) c.342C>T (p.Ile114=) c.359C>T n.500C>T | |
11 | g.17387750G>C | CA379774318 | KCNJ11 | c.114C>G (p.Ile38Met) c.81C>G (p.Ile27Met) c.342C>G (p.Ile114Met) c.359C>G n.500C>G | |
11 | g.17387750G>T | CA473515657 | KCNJ11 | c.114C>A (p.Ile38=) c.81C>A (p.Ile27=) c.342C>A (p.Ile114=) c.359C>A n.500C>A | |
11 | g.17387751A>C | CA379774319 | KCNJ11 | c.113T>G (p.Ile38Ser) c.80T>G (p.Ile27Ser) c.341T>G (p.Ile114Ser) c.358T>G n.499T>G | |
11 | g.17387751A>G | CA379774320 | KCNJ11 | c.113T>C (p.Ile38Thr) c.80T>C (p.Ile27Thr) c.341T>C (p.Ile114Thr) c.358T>C n.499T>C | |
11 | g.17387751A>T | CA379774322 | KCNJ11 | c.113T>A (p.Ile38Asn) c.80T>A (p.Ile27Asn) c.341T>A (p.Ile114Asn) c.358T>A n.499T>A | |
11 | g.17387752T>A | CA379774328 | KCNJ11 | c.112A>T (p.Ile38Phe) c.79A>T (p.Ile27Phe) c.340A>T (p.Ile114Phe) c.357A>T n.498A>T | |
11 | g.17387752T>C | CA379774329 | KCNJ11 | c.112A>G (p.Ile38Val) c.79A>G (p.Ile27Val) c.340A>G (p.Ile114Val) c.357A>G n.498A>G | |
11 | g.17387752T>G | CA379774332 | KCNJ11 | c.112A>C (p.Ile38Leu) c.79A>C (p.Ile27Leu) c.340A>C (p.Ile114Leu) c.357A>C n.498A>C | |
11 | g.17387753G>A | CA473515661 | KCNJ11 | c.111C>T (p.Ser37=) c.78C>T (p.Ser26=) c.339C>T (p.Ser113=) c.356C>T n.497C>T | |
11 | g.17387753G>C | CA379774335 | KCNJ11 | c.111C>G (p.Ser37Arg) c.78C>G (p.Ser26Arg) c.339C>G (p.Ser113Arg) c.356C>G n.497C>G | |
11 | g.17387753G>T | CA379774337 | KCNJ11 | c.111C>A (p.Ser37Arg) c.78C>A (p.Ser26Arg) c.339C>A (p.Ser113Arg) c.356C>A n.497C>A | |
11 | g.17387754C>A | CA379774346 | KCNJ11 | c.110G>T (p.Ser37Ile) c.77G>T (p.Ser26Ile) c.338G>T (p.Ser113Ile) c.355G>T n.496G>T | |
11 | g.17387754C>G | CA379774343 | KCNJ11 | c.110G>C (p.Ser37Thr) c.77G>C (p.Ser26Thr) c.338G>C (p.Ser113Thr) c.355G>C n.496G>C | |
11 | g.17387754C>T | CA379774340 | KCNJ11 | c.110G>A (p.Ser37Asn) c.77G>A (p.Ser26Asn) c.338G>A (p.Ser113Asn) c.355G>A n.496G>A | |
11 | g.17387755T>A | CA379774349 | KCNJ11 | c.109A>T (p.Ser37Cys) c.76A>T (p.Ser26Cys) c.337A>T (p.Ser113Cys) c.354A>T n.495A>T | |
11 | g.17387755T>C | CA5902300 | KCNJ11 | c.109A>G (p.Ser37Gly) c.76A>G (p.Ser26Gly) c.337A>G (p.Ser113Gly) c.354A>G n.495A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387755T>G | CA379774352 | KCNJ11 | c.109A>C (p.Ser37Arg) c.76A>C (p.Ser26Arg) c.337A>C (p.Ser113Arg) c.354A>C n.495A>C | |
11 | g.17387755T= | CA1955119380 | KCNJ11 | c.109A= (p.Ser37=) c.76A= (p.Ser26=) c.337A= (p.Ser113=) c.354A= n.495A= | |
11 | g.17387756G>A | CA473515758 | KCNJ11 | c.108C>T (p.Thr36=) c.75C>T (p.Thr25=) c.336C>T (p.Thr112=) c.353C>T n.494C>T | |
11 | g.17387756G>C | CA473515759 | KCNJ11 | c.108C>G (p.Thr36=) c.75C>G (p.Thr25=) c.336C>G (p.Thr112=) c.353C>G n.494C>G | ClinVar dbSNP |
11 | g.17387756G>T | CA473515760 | KCNJ11 | c.108C>A (p.Thr36=) c.75C>A (p.Thr25=) c.336C>A (p.Thr112=) c.353C>A n.494C>A | |
11 | g.17387757G>A | CA379774358 | KCNJ11 | c.107C>T (p.Thr36Ile) c.74C>T (p.Thr25Ile) c.335C>T (p.Thr112Ile) c.352C>T n.493C>T | |
11 | g.17387757G>C | CA379774360 | KCNJ11 | c.107C>G (p.Thr36Ser) c.74C>G (p.Thr25Ser) c.335C>G (p.Thr112Ser) c.352C>G n.493C>G | |
11 | g.17387757G>T | CA379774363 | KCNJ11 | c.107C>A (p.Thr36Asn) c.74C>A (p.Thr25Asn) c.335C>A (p.Thr112Asn) c.352C>A n.493C>A | ClinVar gnomAD v4 |
11 | g.17387758T>A | CA379774366 | KCNJ11 | c.106A>T (p.Thr36Ser) c.73A>T (p.Thr25Ser) c.334A>T (p.Thr112Ser) c.351A>T n.492A>T | |
11 | g.17387758T>C | CA5902301 | KCNJ11 | c.106A>G (p.Thr36Ala) c.73A>G (p.Thr25Ala) c.334A>G (p.Thr112Ala) c.351A>G n.492A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387758T>G | CA379774370 | KCNJ11 | c.106A>C (p.Thr36Pro) c.73A>C (p.Thr25Pro) c.334A>C (p.Thr112Pro) c.351A>C n.492A>C | dbSNP |
11 | g.17387758T= | CA1955119381 | KCNJ11 | c.106A= (p.Thr36=) c.73A= (p.Thr25=) c.334A= (p.Thr112=) c.351A= n.492A= | |
11 | g.17387759G>A | CA473515761 | KCNJ11 | c.105C>T (p.Val35=) c.72C>T (p.Val24=) c.333C>T (p.Val111=) c.350C>T n.491C>T | COSMIC |
11 | g.17387759G>C | CA473515762 | KCNJ11 | c.105C>G (p.Val35=) c.72C>G (p.Val24=) c.333C>G (p.Val111=) c.350C>G n.491C>G | |
11 | g.17387759G>T | CA473515763 | KCNJ11 | c.105C>A (p.Val35=) c.72C>A (p.Val24=) c.333C>A (p.Val111=) c.350C>A n.491C>A | |
11 | g.17387760A>C | CA379774380 | KCNJ11 | c.104T>G (p.Val35Gly) c.71T>G (p.Val24Gly) c.332T>G (p.Val111Gly) c.349T>G n.490T>G | |
11 | g.17387760A>G | CA379774382 | KCNJ11 | c.104T>C (p.Val35Ala) c.71T>C (p.Val24Ala) c.332T>C (p.Val111Ala) c.349T>C n.490T>C | |
11 | g.17387760A>T | CA379774385 | KCNJ11 | c.104T>A (p.Val35Asp) c.71T>A (p.Val24Asp) c.332T>A (p.Val111Asp) c.349T>A n.490T>A | |
11 | g.17387763_17387764del | CA2580615637 | KCNJ11 | c.103_104del (p.Val35HisfsTer15) c.70_71del (p.Val24HisfsTer15) c.331_332del (p.Val111HisfsTer15) c.348_349del n.489_490del | ClinVar dbSNP |
11 | g.17387761C>A | CA379774389 | KCNJ11 | c.103G>T (p.Val35Phe) c.70G>T (p.Val24Phe) c.331G>T (p.Val111Phe) c.348G>T n.489G>T | |
11 | g.17387761C= | CA1955119382 | KCNJ11 | c.103G= (p.Val35=) c.70G= (p.Val24=) c.331G= (p.Val111=) c.348G= n.489G= | |
11 | g.17387761C>G | CA379774391 | KCNJ11 | c.103G>C (p.Val35Leu) c.70G>C (p.Val24Leu) c.331G>C (p.Val111Leu) c.348G>C n.489G>C | |
11 | g.17387761C>T | CA218399995 | KCNJ11 | c.103G>A (p.Val35Ile) c.70G>A (p.Val24Ile) c.331G>A (p.Val111Ile) c.348G>A n.489G>A | dbSNP |
11 | g.17387762A>C | CA379774399 | KCNJ11 | c.102T>G (p.Cys34Trp) c.69T>G (p.Cys23Trp) c.330T>G (p.Cys110Trp) c.347T>G n.488T>G | |
11 | g.17387762A>G | CA473515764 | KCNJ11 | c.102T>C (p.Cys34=) c.69T>C (p.Cys23=) c.330T>C (p.Cys110=) c.347T>C n.488T>C | ClinVar dbSNP |
11 | g.17387762A>T | CA379774397 | KCNJ11 | c.102T>A (p.Cys34Ter) c.69T>A (p.Cys23Ter) c.330T>A (p.Cys110Ter) c.347T>A n.488T>A | |
11 | g.17387763C>A | CA379774404 | KCNJ11 | c.101G>T (p.Cys34Phe) c.68G>T (p.Cys23Phe) c.329G>T (p.Cys110Phe) c.346G>T n.487G>T | ClinVar dbSNP COSMIC |
11 | g.17387763C= | CA1955119383 | KCNJ11 | c.101G= (p.Cys34=) c.68G= (p.Cys23=) c.329G= (p.Cys110=) c.346G= n.487G= | |
11 | g.17387763C>G | CA379774406 | KCNJ11 | c.101G>C (p.Cys34Ser) c.68G>C (p.Cys23Ser) c.329G>C (p.Cys110Ser) c.346G>C n.487G>C | |
11 | g.17387763C>T | CA379774409 | KCNJ11 | c.101G>A (p.Cys34Tyr) c.68G>A (p.Cys23Tyr) c.329G>A (p.Cys110Tyr) c.346G>A n.487G>A | |
11 | g.17387764A>C | CA379774413 | KCNJ11 | c.100T>G (p.Cys34Gly) c.67T>G (p.Cys23Gly) c.328T>G (p.Cys110Gly) c.345T>G n.486T>G | |
11 | g.17387764A>G | CA379774418 | KCNJ11 | c.100T>C (p.Cys34Arg) c.67T>C (p.Cys23Arg) c.328T>C (p.Cys110Arg) c.345T>C n.486T>C | |
11 | g.17387764A>T | CA379774420 | KCNJ11 | c.100T>A (p.Cys34Ser) c.67T>A (p.Cys23Ser) c.328T>A (p.Cys110Ser) c.345T>A n.486T>A | |
11 | g.17387765G>A | CA473515765 | KCNJ11 | c.99C>T (p.Pro33=) c.66C>T (p.Pro22=) c.327C>T (p.Pro109=) c.344C>T n.485C>T | |
11 | g.17387765G>C | CA473515767 | KCNJ11 | c.99C>G (p.Pro33=) c.66C>G (p.Pro22=) c.327C>G (p.Pro109=) c.344C>G n.485C>G | |
11 | g.17387765G>T | CA473515766 | KCNJ11 | c.99C>A (p.Pro33=) c.66C>A (p.Pro22=) c.327C>A (p.Pro109=) c.344C>A n.485C>A | |
11 | g.17387766G>A | CA379774423 | KCNJ11 | c.98C>T (p.Pro33Leu) c.65C>T (p.Pro22Leu) c.326C>T (p.Pro109Leu) c.343C>T n.484C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387766G>C | CA379774424 | KCNJ11 | c.98C>G (p.Pro33Arg) c.65C>G (p.Pro22Arg) c.326C>G (p.Pro109Arg) c.343C>G n.484C>G | |
11 | g.17387766G= | CA1955119384 | KCNJ11 | c.98C= (p.Pro33=) c.65C= (p.Pro22=) c.326C= (p.Pro109=) c.343C= n.484C= | |
11 | g.17387766G>T | CA379774427 | KCNJ11 | c.98C>A (p.Pro33His) c.65C>A (p.Pro22His) c.326C>A (p.Pro109His) c.343C>A n.484C>A |