Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839235C>A | CA383242955 | KCNJ1 | c.1009G>T (p.Ala337Ser) c.1066G>T (p.Ala356Ser) c.1060G>T (p.Ala354Ser) | |
11 | g.128839235C>G | CA383242956 | KCNJ1 | c.1009G>C (p.Ala337Pro) c.1066G>C (p.Ala356Pro) c.1060G>C (p.Ala354Pro) | |
11 | g.128839235C>T | CA383242957 | KCNJ1 | c.1009G>A (p.Ala337Thr) c.1066G>A (p.Ala356Thr) c.1060G>A (p.Ala354Thr) | |
11 | g.128839236A>C | CA383242958 | KCNJ1 | c.1008T>G (p.Cys336Trp) c.1065T>G (p.Cys355Trp) c.1059T>G (p.Cys353Trp) | |
11 | g.128839236A>G | CA477702741 | KCNJ1 | c.1008T>C (p.Cys336=) c.1065T>C (p.Cys355=) c.1059T>C (p.Cys353=) | |
11 | g.128839236A>T | CA383242959 | KCNJ1 | c.1008T>A (p.Cys336Ter) c.1065T>A (p.Cys355Ter) c.1059T>A (p.Cys353Ter) | |
11 | g.128839237C>A | CA383242960 | KCNJ1 | c.1007G>T (p.Cys336Phe) c.1064G>T (p.Cys355Phe) c.1058G>T (p.Cys353Phe) | |
11 | g.128839237C>G | CA383242961 | KCNJ1 | c.1007G>C (p.Cys336Ser) c.1064G>C (p.Cys355Ser) c.1058G>C (p.Cys353Ser) | |
11 | g.128839237C>T | CA383242962 | KCNJ1 | c.1007G>A (p.Cys336Tyr) c.1064G>A (p.Cys355Tyr) c.1058G>A (p.Cys353Tyr) | |
11 | g.128839238A>C | CA383242963 | KCNJ1 | c.1006T>G (p.Cys336Gly) c.1063T>G (p.Cys355Gly) c.1057T>G (p.Cys353Gly) | |
11 | g.128839238A>G | CA383242964 | KCNJ1 | c.1006T>C (p.Cys336Arg) c.1063T>C (p.Cys355Arg) c.1057T>C (p.Cys353Arg) | |
11 | g.128839238A>T | CA383242965 | KCNJ1 | c.1006T>A (p.Cys336Ser) c.1063T>A (p.Cys355Ser) c.1057T>A (p.Cys353Ser) | |
11 | g.128839239G>A | CA477702742 | KCNJ1 | c.1005C>T (p.His335=) c.1062C>T (p.His354=) c.1056C>T (p.His352=) | |
11 | g.128839239G>C | CA383242967 | KCNJ1 | c.1005C>G (p.His335Gln) c.1062C>G (p.His354Gln) c.1056C>G (p.His352Gln) | |
11 | g.128839239G>T | CA383242966 | KCNJ1 | c.1005C>A (p.His335Gln) c.1062C>A (p.His354Gln) c.1056C>A (p.His352Gln) | gnomAD v4 |
11 | g.128839240T>A | CA383242968 | KCNJ1 | c.1004A>T (p.His335Leu) c.1061A>T (p.His354Leu) c.1055A>T (p.His352Leu) | |
11 | g.128839240T>C | CA383242969 | KCNJ1 | c.1004A>G (p.His335Arg) c.1061A>G (p.His354Arg) c.1055A>G (p.His352Arg) | |
11 | g.128839240T>G | CA383242970 | KCNJ1 | c.1004A>C (p.His335Pro) c.1061A>C (p.His354Pro) c.1055A>C (p.His352Pro) | |
11 | g.128839241G>A | CA383242971 | KCNJ1 | c.1003C>T (p.His335Tyr) c.1060C>T (p.His354Tyr) c.1054C>T (p.His352Tyr) | |
11 | g.128839241G>C | CA383242972 | KCNJ1 | c.1003C>G (p.His335Asp) c.1060C>G (p.His354Asp) c.1054C>G (p.His352Asp) | |
11 | g.128839241G>T | CA383242973 | KCNJ1 | c.1003C>A (p.His335Asn) c.1060C>A (p.His354Asn) c.1054C>A (p.His352Asn) | |
11 | g.128839242A>C | CA477702743 | KCNJ1 | c.1002T>G (p.Pro334=) c.1059T>G (p.Pro353=) c.1053T>G (p.Pro351=) | |
11 | g.128839242A>G | CA477702744 | KCNJ1 | c.1002T>C (p.Pro334=) c.1059T>C (p.Pro353=) c.1053T>C (p.Pro351=) | |
11 | g.128839242A>T | CA477702745 | KCNJ1 | c.1002T>A (p.Pro334=) c.1059T>A (p.Pro353=) c.1053T>A (p.Pro351=) | |
11 | g.128839242_128839243delinsAG | CA2008286203 | KCNJ1 | c.1001_1002delinsCT (p.Pro334=) c.1058_1059delinsCT (p.Pro353=) c.1052_1053delinsCT (p.Pro351=) | |
11 | g.128839243G>A | CA383242974 | KCNJ1 | c.1001C>T (p.Pro334Leu) c.1058C>T (p.Pro353Leu) c.1052C>T (p.Pro351Leu) | COSMIC |
11 | g.128839243G>C | CA383242975 | KCNJ1 | c.1001C>G (p.Pro334Arg) c.1058C>G (p.Pro353Arg) c.1052C>G (p.Pro351Arg) | |
11 | g.128839243G>T | CA383242976 | KCNJ1 | c.1001C>A (p.Pro334His) c.1058C>A (p.Pro353His) c.1052C>A (p.Pro351His) | |
11 | g.128839246dup | CA6357402 | KCNJ1 | c.1001dup (p.His335SerfsTer8) c.1058dup (p.His354SerfsTer8) c.1052dup (p.His352SerfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839246del | CA673265905 | KCNJ1 | c.1001del (p.Pro334LeufsTer17) c.1058del (p.Pro353LeufsTer17) c.1052del (p.Pro351LeufsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839244G>A | CA383242977 | KCNJ1 | c.1000C>T (p.Pro334Ser) c.1057C>T (p.Pro353Ser) c.1051C>T (p.Pro351Ser) | ClinVar dbSNP COSMIC |
11 | g.128839244G>C | CA383242978 | KCNJ1 | c.1000C>G (p.Pro334Ala) c.1057C>G (p.Pro353Ala) c.1051C>G (p.Pro351Ala) | |
11 | g.128839244G= | CA2008286208 | KCNJ1 | c.1000C= (p.Pro334=) c.1057C= (p.Pro353=) c.1051C= (p.Pro351=) | |
11 | g.128839244G>T | CA383242979 | KCNJ1 | c.1000C>A (p.Pro334Thr) c.1057C>A (p.Pro353Thr) c.1051C>A (p.Pro351Thr) | |
11 | g.128839245G>A | CA477702750 | KCNJ1 | c.999C>T (p.Thr333=) c.1056C>T (p.Thr352=) c.1050C>T (p.Thr350=) | gnomAD v4 |
11 | g.128839245G>C | CA477702751 | KCNJ1 | c.999C>G (p.Thr333=) c.1056C>G (p.Thr352=) c.1050C>G (p.Thr350=) | |
11 | g.128839245G= | CA2008286212 | KCNJ1 | c.999C= (p.Thr333=) c.1056C= (p.Thr352=) c.1050C= (p.Thr350=) | |
11 | g.128839245G>T | CA230627778 | KCNJ1 | c.999C>A (p.Thr333=) c.1056C>A (p.Thr352=) c.1050C>A (p.Thr350=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839246G>A | CA383242982 | KCNJ1 | c.998C>T (p.Thr333Ile) c.1055C>T (p.Thr352Ile) c.1049C>T (p.Thr350Ile) | gnomAD v4 |
11 | g.128839246G>C | CA383242981 | KCNJ1 | c.998C>G (p.Thr333Ser) c.1055C>G (p.Thr352Ser) c.1049C>G (p.Thr350Ser) | |
11 | g.128839246G>T | CA383242980 | KCNJ1 | c.998C>A (p.Thr333Asn) c.1055C>A (p.Thr352Asn) c.1049C>A (p.Thr350Asn) | |
11 | g.128839247T>A | CA383242983 | KCNJ1 | c.997A>T (p.Thr333Ser) c.1054A>T (p.Thr352Ser) c.1048A>T (p.Thr350Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839247T>C | CA383242984 | KCNJ1 | c.997A>G (p.Thr333Ala) c.1054A>G (p.Thr352Ala) c.1048A>G (p.Thr350Ala) | |
11 | g.128839247T>G | CA383242985 | KCNJ1 | c.997A>C (p.Thr333Pro) c.1054A>C (p.Thr352Pro) c.1048A>C (p.Thr350Pro) | |
11 | g.128839247T= | CA2008286216 | KCNJ1 | c.997A= (p.Thr333=) c.1054A= (p.Thr352=) c.1048A= (p.Thr350=) | |
11 | g.128839248C>A | CA383242986 | KCNJ1 | c.996G>T (p.Glu332Asp) c.1053G>T (p.Glu351Asp) c.1047G>T (p.Glu349Asp) | |
11 | g.128839248C>G | CA383242987 | KCNJ1 | c.996G>C (p.Glu332Asp) c.1053G>C (p.Glu351Asp) c.1047G>C (p.Glu349Asp) | |
11 | g.128839248C>T | CA477702753 | KCNJ1 | c.996G>A (p.Glu332=) c.1053G>A (p.Glu351=) c.1047G>A (p.Glu349=) | ClinVar |
11 | g.128839249T>A | CA383242988 | KCNJ1 | c.995A>T (p.Glu332Val) c.1052A>T (p.Glu351Val) c.1046A>T (p.Glu349Val) | gnomAD v4 |
11 | g.128839249T>C | CA383242989 | KCNJ1 | c.995A>G (p.Glu332Gly) c.1052A>G (p.Glu351Gly) c.1046A>G (p.Glu349Gly) | |
11 | g.128839249T>G | CA383242990 | KCNJ1 | c.995A>C (p.Glu332Ala) c.1052A>C (p.Glu351Ala) c.1046A>C (p.Glu349Ala) | dbSNP gnomAD v2 |
11 | g.128839249T= | CA2008286220 | KCNJ1 | c.995A= (p.Glu332=) c.1052A= (p.Glu351=) c.1046A= (p.Glu349=) | |
11 | g.128839250C>A | CA383242991 | KCNJ1 | c.994G>T (p.Glu332Ter) c.1051G>T (p.Glu351Ter) c.1045G>T (p.Glu349Ter) | |
11 | g.128839250C>G | CA383242992 | KCNJ1 | c.994G>C (p.Glu332Gln) c.1051G>C (p.Glu351Gln) c.1045G>C (p.Glu349Gln) | |
11 | g.128839250C>T | CA383242993 | KCNJ1 | c.994G>A (p.Glu332Lys) c.1051G>A (p.Glu351Lys) c.1045G>A (p.Glu349Lys) | gnomAD v4 |
11 | g.128839251C>A | CA477702755 | KCNJ1 | c.993G>T (p.Val331=) c.1050G>T (p.Val350=) c.1044G>T (p.Val348=) | |
11 | g.128839251C>G | CA477702759 | KCNJ1 | c.993G>C (p.Val331=) c.1050G>C (p.Val350=) c.1044G>C (p.Val348=) | |
11 | g.128839251C>T | CA477702757 | KCNJ1 | c.993G>A (p.Val331=) c.1050G>A (p.Val350=) c.1044G>A (p.Val348=) | |
11 | g.128839252A>C | CA383242994 | KCNJ1 | c.992T>G (p.Val331Gly) c.1049T>G (p.Val350Gly) c.1043T>G (p.Val348Gly) | |
11 | g.128839252A>G | CA383242996 | KCNJ1 | c.992T>C (p.Val331Ala) c.1049T>C (p.Val350Ala) c.1043T>C (p.Val348Ala) | |
11 | g.128839252A>T | CA383242997 | KCNJ1 | c.992T>A (p.Val331Glu) c.1049T>A (p.Val350Glu) c.1043T>A (p.Val348Glu) | |
11 | g.128839253C>A | CA383243000 | KCNJ1 | c.991G>T (p.Val331Leu) c.1048G>T (p.Val350Leu) c.1042G>T (p.Val348Leu) | |
11 | g.128839253C= | CA2008286224 | KCNJ1 | c.991G= (p.Val331=) c.1048G= (p.Val350=) c.1042G= (p.Val348=) | |
11 | g.128839253C>G | CA383243002 | KCNJ1 | c.991G>C (p.Val331Leu) c.1048G>C (p.Val350Leu) c.1042G>C (p.Val348Leu) | |
11 | g.128839253C>T | CA383242999 | KCNJ1 | c.991G>A (p.Val331Met) c.1048G>A (p.Val350Met) c.1042G>A (p.Val348Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839254T>A | CA383243004 | KCNJ1 | c.990A>T (p.Glu330Asp) c.1047A>T (p.Glu349Asp) c.1041A>T (p.Glu347Asp) | |
11 | g.128839254T>C | CA477702760 | KCNJ1 | c.990A>G (p.Glu330=) c.1047A>G (p.Glu349=) c.1041A>G (p.Glu347=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839254T>G | CA383243006 | KCNJ1 | c.990A>C (p.Glu330Asp) c.1047A>C (p.Glu349Asp) c.1041A>C (p.Glu347Asp) | |
11 | g.128839254T= | CA2008286227 | KCNJ1 | c.990A= (p.Glu330=) c.1047A= (p.Glu349=) c.1041A= (p.Glu347=) | |
11 | g.128839255T>A | CA383243008 | KCNJ1 | c.989A>T (p.Glu330Val) c.1046A>T (p.Glu349Val) c.1040A>T (p.Glu347Val) | |
11 | g.128839255T>C | CA383243009 | KCNJ1 | c.989A>G (p.Glu330Gly) c.1046A>G (p.Glu349Gly) c.1040A>G (p.Glu347Gly) | |
11 | g.128839255T>G | CA383243010 | KCNJ1 | c.989A>C (p.Glu330Ala) c.1046A>C (p.Glu349Ala) c.1040A>C (p.Glu347Ala) | |
11 | g.128839256C>A | CA383243011 | KCNJ1 | c.988G>T (p.Glu330Ter) c.1045G>T (p.Glu349Ter) c.1039G>T (p.Glu347Ter) | |
11 | g.128839256C>G | CA383243012 | KCNJ1 | c.988G>C (p.Glu330Gln) c.1045G>C (p.Glu349Gln) c.1039G>C (p.Glu347Gln) | |
11 | g.128839256C>T | CA383243014 | KCNJ1 | c.988G>A (p.Glu330Lys) c.1045G>A (p.Glu349Lys) c.1039G>A (p.Glu347Lys) | |
11 | g.128839257C>A | CA477702764 | KCNJ1 | c.987G>T (p.Val329=) c.1044G>T (p.Val348=) c.1038G>T (p.Val346=) | |
11 | g.128839257C>G | CA477702765 | KCNJ1 | c.987G>C (p.Val329=) c.1044G>C (p.Val348=) c.1038G>C (p.Val346=) | |
11 | g.128839257C>T | CA477702766 | KCNJ1 | c.987G>A (p.Val329=) c.1044G>A (p.Val348=) c.1038G>A (p.Val346=) | gnomAD v4 |
11 | g.128839258A>C | CA383243016 | KCNJ1 | c.986T>G (p.Val329Gly) c.1043T>G (p.Val348Gly) c.1037T>G (p.Val346Gly) | |
11 | g.128839258A>G | CA383243018 | KCNJ1 | c.986T>C (p.Val329Ala) c.1043T>C (p.Val348Ala) c.1037T>C (p.Val346Ala) | |
11 | g.128839258A>T | CA383243020 | KCNJ1 | c.986T>A (p.Val329Glu) c.1043T>A (p.Val348Glu) c.1037T>A (p.Val346Glu) | |
11 | g.128839259C>A | CA383243025 | KCNJ1 | c.985G>T (p.Val329Leu) c.1042G>T (p.Val348Leu) c.1036G>T (p.Val346Leu) | |
11 | g.128839259C= | CA2008286228 | KCNJ1 | c.985G= (p.Val329=) c.1042G= (p.Val348=) c.1036G= (p.Val346=) | |
11 | g.128839259C>G | CA383243027 | KCNJ1 | c.985G>C (p.Val329Leu) c.1042G>C (p.Val348Leu) c.1036G>C (p.Val346Leu) | |
11 | g.128839259C>T | CA383243029 | KCNJ1 | c.985G>A (p.Val329Met) c.1042G>A (p.Val348Met) c.1036G>A (p.Val346Met) | dbSNP gnomAD v4 |
11 | g.128839260T>A | CA477702770 | KCNJ1 | c.984A>T (p.Thr328=) c.1041A>T (p.Thr347=) c.1035A>T (p.Thr345=) | |
11 | g.128839260T>C | CA477702771 | KCNJ1 | c.984A>G (p.Thr328=) c.1041A>G (p.Thr347=) c.1035A>G (p.Thr345=) | |
11 | g.128839260T>G | CA477702772 | KCNJ1 | c.984A>C (p.Thr328=) c.1041A>C (p.Thr347=) c.1035A>C (p.Thr345=) | |
11 | g.128839261del | CA2575025047 | KCNJ1 | c.983del (p.Thr328LysfsTer23) c.1040del (p.Thr347LysfsTer23) c.1034del (p.Thr345LysfsTer23) | gnomAD v4 |
11 | g.128839261G>A | CA383243035 | KCNJ1 | c.983C>T (p.Thr328Ile) c.1040C>T (p.Thr347Ile) c.1034C>T (p.Thr345Ile) | COSMIC |
11 | g.128839261G>C | CA383243031 | KCNJ1 | c.983C>G (p.Thr328Arg) c.1040C>G (p.Thr347Arg) c.1034C>G (p.Thr345Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839261G= | CA2008286232 | KCNJ1 | c.983C= (p.Thr328=) c.1040C= (p.Thr347=) c.1034C= (p.Thr345=) | |
11 | g.128839261G>T | CA383243032 | KCNJ1 | c.983C>A (p.Thr328Lys) c.1040C>A (p.Thr347Lys) c.1034C>A (p.Thr345Lys) | |
11 | g.128839262T>A | CA383243037 | KCNJ1 | c.982A>T (p.Thr328Ser) c.1039A>T (p.Thr347Ser) c.1033A>T (p.Thr345Ser) | |
11 | g.128839262T>C | CA6357403 | KCNJ1 | c.982A>G (p.Thr328Ala) c.1039A>G (p.Thr347Ala) c.1033A>G (p.Thr345Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839262T>G | CA383243040 | KCNJ1 | c.982A>C (p.Thr328Pro) c.1039A>C (p.Thr347Pro) c.1033A>C (p.Thr345Pro) | |
11 | g.128839262T= | CA2008286234 | KCNJ1 | c.982A= (p.Thr328=) c.1039A= (p.Thr347=) c.1033A= (p.Thr345=) | |
11 | g.128839263C>A | CA383243041 | KCNJ1 | c.981G>T (p.Lys327Asn) c.1038G>T (p.Lys346Asn) c.1032G>T (p.Lys344Asn) | |
11 | g.128839263C= | CA2008286236 | KCNJ1 | c.981G= (p.Lys327=) c.1038G= (p.Lys346=) c.1032G= (p.Lys344=) | |
11 | g.128839263C>G | CA230627782 | KCNJ1 | c.981G>C (p.Lys327Asn) c.1038G>C (p.Lys346Asn) c.1032G>C (p.Lys344Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839263C>T | CA477702774 | KCNJ1 | c.981G>A (p.Lys327=) c.1038G>A (p.Lys346=) c.1032G>A (p.Lys344=) | |
11 | g.128839264T>A | CA383243044 | KCNJ1 | c.980A>T (p.Lys327Met) c.1037A>T (p.Lys346Met) c.1031A>T (p.Lys344Met) | |
11 | g.128839264T>C | CA383243045 | KCNJ1 | c.980A>G (p.Lys327Arg) c.1037A>G (p.Lys346Arg) c.1031A>G (p.Lys344Arg) | |
11 | g.128839264T>G | CA383243047 | KCNJ1 | c.980A>C (p.Lys327Thr) c.1037A>C (p.Lys346Thr) c.1031A>C (p.Lys344Thr) | |
11 | g.128839265T>A | CA383243050 | KCNJ1 | c.979A>T (p.Lys327Ter) c.1036A>T (p.Lys346Ter) c.1030A>T (p.Lys344Ter) | |
11 | g.128839265T>C | CA383243051 | KCNJ1 | c.979A>G (p.Lys327Glu) c.1036A>G (p.Lys346Glu) c.1030A>G (p.Lys344Glu) | COSMIC |
11 | g.128839265T>G | CA383243053 | KCNJ1 | c.979A>C (p.Lys327Gln) c.1036A>C (p.Lys346Gln) c.1030A>C (p.Lys344Gln) | |
11 | g.128839266G>A | CA477702778 | KCNJ1 | c.978C>T (p.Ser326=) c.1035C>T (p.Ser345=) c.1029C>T (p.Ser343=) | ClinVar dbSNP |
11 | g.128839266G>C | CA383243057 | KCNJ1 | c.978C>G (p.Ser326Arg) c.1035C>G (p.Ser345Arg) c.1029C>G (p.Ser343Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839266G= | CA2008286239 | KCNJ1 | c.978C= (p.Ser326=) c.1035C= (p.Ser345=) c.1029C= (p.Ser343=) | |
11 | g.128839266G>T | CA383243055 | KCNJ1 | c.978C>A (p.Ser326Arg) c.1035C>A (p.Ser345Arg) c.1029C>A (p.Ser343Arg) | gnomAD v4 |
11 | g.128839267C>A | CA383243059 | KCNJ1 | c.977G>T (p.Ser326Ile) c.1034G>T (p.Ser345Ile) c.1028G>T (p.Ser343Ile) | |
11 | g.128839267C= | CA2008286243 | KCNJ1 | c.977G= (p.Ser326=) c.1034G= (p.Ser345=) c.1028G= (p.Ser343=) | |
11 | g.128839267C>G | CA383243061 | KCNJ1 | c.977G>C (p.Ser326Thr) c.1034G>C (p.Ser345Thr) c.1028G>C (p.Ser343Thr) | |
11 | g.128839267C>T | CA6357404 | KCNJ1 | c.977G>A (p.Ser326Asn) c.1034G>A (p.Ser345Asn) c.1028G>A (p.Ser343Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839268T>A | CA383243064 | KCNJ1 | c.976A>T (p.Ser326Cys) c.1033A>T (p.Ser345Cys) c.1027A>T (p.Ser343Cys) | |
11 | g.128839268T>C | CA383243066 | KCNJ1 | c.976A>G (p.Ser326Gly) c.1033A>G (p.Ser345Gly) c.1027A>G (p.Ser343Gly) | |
11 | g.128839268T>G | CA383243068 | KCNJ1 | c.976A>C (p.Ser326Arg) c.1033A>C (p.Ser345Arg) c.1027A>C (p.Ser343Arg) | |
11 | g.128839268_128839269delinsTA | CA2008286246 | KCNJ1 | c.975_976delinsTA (p.Phe325=) c.1032_1033delinsTA (p.Phe344=) c.1026_1027delinsTA (p.Phe342=) | |
11 | g.128839269A= | CA2008286251 | KCNJ1 | c.975T= (p.Phe325=) c.1032T= (p.Phe344=) c.1026T= (p.Phe342=) | |
11 | g.128839269A>C | CA383243070 | KCNJ1 | c.975T>G (p.Phe325Leu) c.1032T>G (p.Phe344Leu) c.1026T>G (p.Phe342Leu) | |
11 | g.128839269A>G | CA6357405 | KCNJ1 | c.975T>C (p.Phe325=) c.1032T>C (p.Phe344=) c.1026T>C (p.Phe342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839269A>T | CA383243073 | KCNJ1 | c.975T>A (p.Phe325Leu) c.1032T>A (p.Phe344Leu) c.1026T>A (p.Phe342Leu) | |
11 | g.128839271del | CA2008286249 | KCNJ1 | c.975del (p.Phe325LeufsTer26) c.1032del (p.Phe344LeufsTer26) c.1026del (p.Phe342LeufsTer26) | dbSNP |
11 | g.128839270A>C | CA383243075 | KCNJ1 | c.974T>G (p.Phe325Cys) c.1031T>G (p.Phe344Cys) c.1025T>G (p.Phe342Cys) | |
11 | g.128839270A>G | CA383243077 | KCNJ1 | c.974T>C (p.Phe325Ser) c.1031T>C (p.Phe344Ser) c.1025T>C (p.Phe342Ser) | |
11 | g.128839270A>T | CA383243079 | KCNJ1 | c.974T>A (p.Phe325Tyr) c.1031T>A (p.Phe344Tyr) c.1025T>A (p.Phe342Tyr) | |
11 | g.128839271A= | CA2008286256 | KCNJ1 | c.973T= (p.Phe325=) c.1030T= (p.Phe344=) c.1024T= (p.Phe342=) | |
11 | g.128839271A>C | CA6357406 | KCNJ1 | c.973T>G (p.Phe325Val) c.1030T>G (p.Phe344Val) c.1024T>G (p.Phe342Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839271A>G | CA383243084 | KCNJ1 | c.973T>C (p.Phe325Leu) c.1030T>C (p.Phe344Leu) c.1024T>C (p.Phe342Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839271A>T | CA383243081 | KCNJ1 | c.973T>A (p.Phe325Ile) c.1030T>A (p.Phe344Ile) c.1024T>A (p.Phe342Ile) | |
11 | g.128839272G>A | CA6357407 | KCNJ1 | c.972C>T (p.Asn324=) c.1029C>T (p.Asn343=) c.1023C>T (p.Asn341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839272G>C | CA383243087 | KCNJ1 | c.972C>G (p.Asn324Lys) c.1029C>G (p.Asn343Lys) c.1023C>G (p.Asn341Lys) | |
11 | g.128839272G= | CA2008286260 | KCNJ1 | c.972C= (p.Asn324=) c.1029C= (p.Asn343=) c.1023C= (p.Asn341=) | |
11 | g.128839272G>T | CA383243089 | KCNJ1 | c.972C>A (p.Asn324Lys) c.1029C>A (p.Asn343Lys) c.1023C>A (p.Asn341Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839273T>A | CA383243091 | KCNJ1 | c.971A>T (p.Asn324Ile) c.1028A>T (p.Asn343Ile) c.1022A>T (p.Asn341Ile) | |
11 | g.128839273T>C | CA383243093 | KCNJ1 | c.971A>G (p.Asn324Ser) c.1028A>G (p.Asn343Ser) c.1022A>G (p.Asn341Ser) | gnomAD v4 |
11 | g.128839273T>G | CA383243094 | KCNJ1 | c.971A>C (p.Asn324Thr) c.1028A>C (p.Asn343Thr) c.1022A>C (p.Asn341Thr) | |
11 | g.128839274T>A | CA383243096 | KCNJ1 | c.970A>T (p.Asn324Tyr) c.1027A>T (p.Asn343Tyr) c.1021A>T (p.Asn341Tyr) | |
11 | g.128839274T>C | CA383243098 | KCNJ1 | c.970A>G (p.Asn324Asp) c.1027A>G (p.Asn343Asp) c.1021A>G (p.Asn341Asp) | |
11 | g.128839274T>G | CA383243097 | KCNJ1 | c.970A>C (p.Asn324His) c.1027A>C (p.Asn343His) c.1021A>C (p.Asn341His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839274T= | CA2008286261 | KCNJ1 | c.970A= (p.Asn324=) c.1027A= (p.Asn343=) c.1021A= (p.Asn341=) | |
11 | g.128839275A>C | CA383243101 | KCNJ1 | c.969T>G (p.His323Gln) c.1026T>G (p.His342Gln) c.1020T>G (p.His340Gln) | |
11 | g.128839275A>G | CA477702862 | KCNJ1 | c.969T>C (p.His323=) c.1026T>C (p.His342=) c.1020T>C (p.His340=) | |
11 | g.128839275A>T | CA383243102 | KCNJ1 | c.969T>A (p.His323Gln) c.1026T>A (p.His342Gln) c.1020T>A (p.His340Gln) | |
11 | g.128839276T>A | CA383243105 | KCNJ1 | c.968A>T (p.His323Leu) c.1025A>T (p.His342Leu) c.1019A>T (p.His340Leu) | |
11 | g.128839276T>C | CA383243106 | KCNJ1 | c.968A>G (p.His323Arg) c.1025A>G (p.His342Arg) c.1019A>G (p.His340Arg) | |
11 | g.128839276T>G | CA383243107 | KCNJ1 | c.968A>C (p.His323Pro) c.1025A>C (p.His342Pro) c.1019A>C (p.His340Pro) | |
11 | g.128839277G>A | CA6357408 | KCNJ1 | c.967C>T (p.His323Tyr) c.1024C>T (p.His342Tyr) c.1018C>T (p.His340Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839277G>C | CA383243111 | KCNJ1 | c.967C>G (p.His323Asp) c.1024C>G (p.His342Asp) c.1018C>G (p.His340Asp) | |
11 | g.128839277G= | CA2008286263 | KCNJ1 | c.967C= (p.His323=) c.1024C= (p.His342=) c.1018C= (p.His340=) | |
11 | g.128839277G>T | CA383243108 | KCNJ1 | c.967C>A (p.His323Asn) c.1024C>A (p.His342Asn) c.1018C>A (p.His340Asn) | |
11 | g.128839278G>A | CA6357409 | KCNJ1 | c.966C>T (p.Phe322=) c.1023C>T (p.Phe341=) c.1017C>T (p.Phe339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839278G>C | CA383243113 | KCNJ1 | c.966C>G (p.Phe322Leu) c.1023C>G (p.Phe341Leu) c.1017C>G (p.Phe339Leu) | |
11 | g.128839278G= | CA2008286266 | KCNJ1 | c.966C= (p.Phe322=) c.1023C= (p.Phe341=) c.1017C= (p.Phe339=) | |
11 | g.128839278G>T | CA383243115 | KCNJ1 | c.966C>A (p.Phe322Leu) c.1023C>A (p.Phe341Leu) c.1017C>A (p.Phe339Leu) | COSMIC |
11 | g.128839279A>C | CA383243118 | KCNJ1 | c.965T>G (p.Phe322Cys) c.1022T>G (p.Phe341Cys) c.1016T>G (p.Phe339Cys) | |
11 | g.128839279A>G | CA383243120 | KCNJ1 | c.965T>C (p.Phe322Ser) c.1022T>C (p.Phe341Ser) c.1016T>C (p.Phe339Ser) | |
11 | g.128839279A>T | CA383243122 | KCNJ1 | c.965T>A (p.Phe322Tyr) c.1022T>A (p.Phe341Tyr) c.1016T>A (p.Phe339Tyr) | |
11 | g.128839280A>C | CA383243124 | KCNJ1 | c.964T>G (p.Phe322Val) c.1021T>G (p.Phe341Val) c.1015T>G (p.Phe339Val) | |
11 | g.128839280A>G | CA383243126 | KCNJ1 | c.964T>C (p.Phe322Leu) c.1021T>C (p.Phe341Leu) c.1015T>C (p.Phe339Leu) | |
11 | g.128839280A>T | CA383243128 | KCNJ1 | c.964T>A (p.Phe322Ile) c.1021T>A (p.Phe341Ile) c.1015T>A (p.Phe339Ile) | |
11 | g.128839281A>C | CA383243129 | KCNJ1 | c.963T>G (p.Asp321Glu) c.1020T>G (p.Asp340Glu) c.1014T>G (p.Asp338Glu) | |
11 | g.128839281A>G | CA477702868 | KCNJ1 | c.963T>C (p.Asp321=) c.1020T>C (p.Asp340=) c.1014T>C (p.Asp338=) | |
11 | g.128839281A>T | CA383243130 | KCNJ1 | c.963T>A (p.Asp321Glu) c.1020T>A (p.Asp340Glu) c.1014T>A (p.Asp338Glu) | |
11 | g.128839282T>A | CA383243133 | KCNJ1 | c.962A>T (p.Asp321Val) c.1019A>T (p.Asp340Val) c.1013A>T (p.Asp338Val) | |
11 | g.128839282T>C | CA383243135 | KCNJ1 | c.962A>G (p.Asp321Gly) c.1019A>G (p.Asp340Gly) c.1013A>G (p.Asp338Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839282T>G | CA383243136 | KCNJ1 | c.962A>C (p.Asp321Ala) c.1019A>C (p.Asp340Ala) c.1013A>C (p.Asp338Ala) | |
11 | g.128839282T= | CA2008286269 | KCNJ1 | c.962A= (p.Asp321=) c.1019A= (p.Asp340=) c.1013A= (p.Asp338=) | |
11 | g.128839283C>A | CA383243139 | KCNJ1 | c.961G>T (p.Asp321Tyr) c.1018G>T (p.Asp340Tyr) c.1012G>T (p.Asp338Tyr) | |
11 | g.128839283C>G | CA383243141 | KCNJ1 | c.961G>C (p.Asp321His) c.1018G>C (p.Asp340His) c.1012G>C (p.Asp338His) | |
11 | g.128839283C>T | CA383243142 | KCNJ1 | c.961G>A (p.Asp321Asn) c.1018G>A (p.Asp340Asn) c.1012G>A (p.Asp338Asn) | |
11 | g.128839284C>A | CA477702872 | KCNJ1 | c.960G>T (p.Val320=) c.1017G>T (p.Val339=) c.1011G>T (p.Val337=) | |
11 | g.128839284C>G | CA477702873 | KCNJ1 | c.960G>C (p.Val320=) c.1017G>C (p.Val339=) c.1011G>C (p.Val337=) | |
11 | g.128839284C>T | CA477702874 | KCNJ1 | c.960G>A (p.Val320=) c.1017G>A (p.Val339=) c.1011G>A (p.Val337=) | gnomAD v4 |
11 | g.128839285A>C | CA383243144 | KCNJ1 | c.959T>G (p.Val320Gly) c.1016T>G (p.Val339Gly) c.1010T>G (p.Val337Gly) | |
11 | g.128839285A>G | CA383243147 | KCNJ1 | c.959T>C (p.Val320Ala) c.1016T>C (p.Val339Ala) c.1010T>C (p.Val337Ala) | |
11 | g.128839285A>T | CA383243145 | KCNJ1 | c.959T>A (p.Val320Glu) c.1016T>A (p.Val339Glu) c.1010T>A (p.Val337Glu) | |
11 | g.128839286C>A | CA383243149 | KCNJ1 | c.958G>T (p.Val320Leu) c.1015G>T (p.Val339Leu) c.1009G>T (p.Val337Leu) | |
11 | g.128839286C>G | CA383243150 | KCNJ1 | c.958G>C (p.Val320Leu) c.1015G>C (p.Val339Leu) c.1009G>C (p.Val337Leu) | |
11 | g.128839286C>T | CA383243152 | KCNJ1 | c.958G>A (p.Val320Met) c.1015G>A (p.Val339Met) c.1009G>A (p.Val337Met) | |
11 | g.128839287T>A | CA477702880 | KCNJ1 | c.957A>T (p.Arg319=) c.1014A>T (p.Arg338=) c.1008A>T (p.Arg336=) | |
11 | g.128839287T>C | CA477702882 | KCNJ1 | c.957A>G (p.Arg319=) c.1014A>G (p.Arg338=) c.1008A>G (p.Arg336=) | |
11 | g.128839287T>G | CA477702878 | KCNJ1 | c.957A>C (p.Arg319=) c.1014A>C (p.Arg338=) c.1008A>C (p.Arg336=) | |
11 | g.128839288C>A | CA383243154 | KCNJ1 | c.956G>T (p.Arg319Leu) c.1013G>T (p.Arg338Leu) c.1007G>T (p.Arg336Leu) | |
11 | g.128839288C= | CA2008286273 | KCNJ1 | c.956G= (p.Arg319=) c.1013G= (p.Arg338=) c.1007G= (p.Arg336=) | |
11 | g.128839288C>G | CA383243156 | KCNJ1 | c.956G>C (p.Arg319Pro) c.1013G>C (p.Arg338Pro) c.1007G>C (p.Arg336Pro) | |
11 | g.128839288C>T | CA6357410 | KCNJ1 | c.956G>A (p.Arg319Gln) c.1013G>A (p.Arg338Gln) c.1007G>A (p.Arg336Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839289G>A | CA6357411 | KCNJ1 | c.955C>T (p.Arg319Ter) c.1012C>T (p.Arg338Ter) c.1006C>T (p.Arg336Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839289G>C | CA383243159 | KCNJ1 | c.955C>G (p.Arg319Gly) c.1012C>G (p.Arg338Gly) c.1006C>G (p.Arg336Gly) | |
11 | g.128839289G= | CA2008286278 | KCNJ1 | c.955C= (p.Arg319=) c.1012C= (p.Arg338=) c.1006C= (p.Arg336=) | |
11 | g.128839289G>T | CA477702885 | KCNJ1 | c.955C>A (p.Arg319=) c.1012C>A (p.Arg338=) c.1006C>A (p.Arg336=) | gnomAD v4 |
11 | g.128839290G>A | CA477702886 | KCNJ1 | c.954C>T (p.Tyr318=) c.1011C>T (p.Tyr337=) c.1005C>T (p.Tyr335=) | ClinVar dbSNP |
11 | g.128839290G>C | CA383243161 | KCNJ1 | c.954C>G (p.Tyr318Ter) c.1011C>G (p.Tyr337Ter) c.1005C>G (p.Tyr335Ter) | |
11 | g.128839290G= | CA2008286284 | KCNJ1 | c.954C= (p.Tyr318=) c.1011C= (p.Tyr337=) c.1005C= (p.Tyr335=) | |
11 | g.128839290G>T | CA383243163 | KCNJ1 | c.954C>A (p.Tyr318Ter) c.1011C>A (p.Tyr337Ter) c.1005C>A (p.Tyr335Ter) | dbSNP gnomAD v2 |
11 | g.128839291T>A | CA383243165 | KCNJ1 | c.953A>T (p.Tyr318Phe) c.1010A>T (p.Tyr337Phe) c.1004A>T (p.Tyr335Phe) | |
11 | g.128839291T>C | CA6357412 | KCNJ1 | c.953A>G (p.Tyr318Cys) c.1010A>G (p.Tyr337Cys) c.1004A>G (p.Tyr335Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839291T>G | CA383243167 | KCNJ1 | c.953A>C (p.Tyr318Ser) c.1010A>C (p.Tyr337Ser) c.1004A>C (p.Tyr335Ser) | |
11 | g.128839291T= | CA2008286287 | KCNJ1 | c.953A= (p.Tyr318=) c.1010A= (p.Tyr337=) c.1004A= (p.Tyr335=) | |
11 | g.128839292A= | CA2008286291 | KCNJ1 | c.952T= (p.Tyr318=) c.1009T= (p.Tyr337=) c.1003T= (p.Tyr335=) | |
11 | g.128839292A>C | CA383243170 | KCNJ1 | c.952T>G (p.Tyr318Asp) c.1009T>G (p.Tyr337Asp) c.1003T>G (p.Tyr335Asp) | |
11 | g.128839292A>G | CA383243173 | KCNJ1 | c.952T>C (p.Tyr318His) c.1009T>C (p.Tyr337His) c.1003T>C (p.Tyr335His) | gnomAD v4 |
11 | g.128839292A>T | CA383243171 | KCNJ1 | c.952T>A (p.Tyr318Asn) c.1009T>A (p.Tyr337Asn) c.1003T>A (p.Tyr335Asn) | dbSNP |
11 | g.128839293T>A | CA383243174 | KCNJ1 | c.951A>T (p.Lys317Asn) c.1008A>T (p.Lys336Asn) c.1002A>T (p.Lys334Asn) | |
11 | g.128839293T>C | CA477702893 | KCNJ1 | c.951A>G (p.Lys317=) c.1008A>G (p.Lys336=) c.1002A>G (p.Lys334=) | |
11 | g.128839293T>G | CA383243175 | KCNJ1 | c.951A>C (p.Lys317Asn) c.1008A>C (p.Lys336Asn) c.1002A>C (p.Lys334Asn) | gnomAD v4 |
11 | g.128839294T>A | CA383243177 | KCNJ1 | c.950A>T (p.Lys317Ile) c.1007A>T (p.Lys336Ile) c.1001A>T (p.Lys334Ile) | |
11 | g.128839294T>C | CA383243179 | KCNJ1 | c.950A>G (p.Lys317Arg) c.1007A>G (p.Lys336Arg) c.1001A>G (p.Lys334Arg) | |
11 | g.128839294T>G | CA383243181 | KCNJ1 | c.950A>C (p.Lys317Thr) c.1007A>C (p.Lys336Thr) c.1001A>C (p.Lys334Thr) | |
11 | g.128839295T>A | CA383243183 | KCNJ1 | c.949A>T (p.Lys317Ter) c.1006A>T (p.Lys336Ter) c.1000A>T (p.Lys334Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839295T>C | CA6357413 | KCNJ1 | c.949A>G (p.Lys317Glu) c.1006A>G (p.Lys336Glu) c.1000A>G (p.Lys334Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839295T>G | CA383243186 | KCNJ1 | c.949A>C (p.Lys317Gln) c.1006A>C (p.Lys336Gln) c.1000A>C (p.Lys334Gln) | |
11 | g.128839295T= | CA2008286292 | KCNJ1 | c.949A= (p.Lys317=) c.1006A= (p.Lys336=) c.1000A= (p.Lys334=) | |
11 | g.128839296_128839299del | CA2616771375 | KCNJ1 | c.946_949del (p.Gly316AsnfsTer?) c.1003_1006del (p.Gly335AsnfsTer?) c.997_1000del (p.Gly333AsnfsTer?) | gnomAD v4 |
11 | g.128839296C>A | CA477702897 | KCNJ1 | c.948G>T (p.Gly316=) c.1005G>T (p.Gly335=) c.999G>T (p.Gly333=) | |
11 | g.128839296C>G | CA477702898 | KCNJ1 | c.948G>C (p.Gly316=) c.1005G>C (p.Gly335=) c.999G>C (p.Gly333=) | COSMIC |
11 | g.128839296C>T | CA477702900 | KCNJ1 | c.948G>A (p.Gly316=) c.1005G>A (p.Gly335=) c.999G>A (p.Gly333=) | COSMIC |
11 | g.128839297C>A | CA383243188 | KCNJ1 | c.947G>T (p.Gly316Val) c.1004G>T (p.Gly335Val) c.998G>T (p.Gly333Val) | |
11 | g.128839297C>G | CA383243190 | KCNJ1 | c.947G>C (p.Gly316Ala) c.1004G>C (p.Gly335Ala) c.998G>C (p.Gly333Ala) | |
11 | g.128839297C>T | CA383243192 | KCNJ1 | c.947G>A (p.Gly316Glu) c.1004G>A (p.Gly335Glu) c.998G>A (p.Gly333Glu) | |
11 | g.128839298C>A | CA383243193 | KCNJ1 | c.946G>T (p.Gly316Trp) c.1003G>T (p.Gly335Trp) c.997G>T (p.Gly333Trp) | |
11 | g.128839298C= | CA2008286294 | KCNJ1 | c.946G= (p.Gly316=) c.1003G= (p.Gly335=) c.997G= (p.Gly333=) | |
11 | g.128839298C>G | CA383243194 | KCNJ1 | c.946G>C (p.Gly316Arg) c.1003G>C (p.Gly335Arg) c.997G>C (p.Gly333Arg) | |
11 | g.128839298C>T | CA383243195 | KCNJ1 | c.946G>A (p.Gly316Arg) c.1003G>A (p.Gly335Arg) c.997G>A (p.Gly333Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.128839299T>A | CA383243196 | KCNJ1 | c.945A>T (p.Glu315Asp) c.1002A>T (p.Glu334Asp) c.996A>T (p.Glu332Asp) | |
11 | g.128839299T>C | CA477702902 | KCNJ1 | c.945A>G (p.Glu315=) c.1002A>G (p.Glu334=) c.996A>G (p.Glu332=) | |
11 | g.128839299T>G | CA383243197 | KCNJ1 | c.945A>C (p.Glu315Asp) c.1002A>C (p.Glu334Asp) c.996A>C (p.Glu332Asp) | |
11 | g.128839300T>A | CA383243198 | KCNJ1 | c.944A>T (p.Glu315Val) c.1001A>T (p.Glu334Val) c.995A>T (p.Glu332Val) | |
11 | g.128839300T>C | CA383243200 | KCNJ1 | c.944A>G (p.Glu315Gly) c.1001A>G (p.Glu334Gly) c.995A>G (p.Glu332Gly) | |
11 | g.128839300T>G | CA383243202 | KCNJ1 | c.944A>C (p.Glu315Ala) c.1001A>C (p.Glu334Ala) c.995A>C (p.Glu332Ala) | |
11 | g.128839301C>A | CA383243204 | KCNJ1 | c.943G>T (p.Glu315Ter) c.1000G>T (p.Glu334Ter) c.994G>T (p.Glu332Ter) | |
11 | g.128839301C>G | CA383243206 | KCNJ1 | c.943G>C (p.Glu315Gln) c.1000G>C (p.Glu334Gln) c.994G>C (p.Glu332Gln) | |
11 | g.128839301C>T | CA383243208 | KCNJ1 | c.943G>A (p.Glu315Lys) c.1000G>A (p.Glu334Lys) c.994G>A (p.Glu332Lys) | |
11 | g.128839302del | CA2616771376 | KCNJ1 | c.943del (p.Glu315LysfsTer?) c.1000del (p.Glu334LysfsTer?) c.994del (p.Glu332LysfsTer?) | gnomAD v4 |
11 | g.128839301_128839305delinsCCTTT | CA2008286296 | KCNJ1 | c.939_943delinsAAAGG (p.Thr313=) c.996_1000delinsAAAGG (p.Thr332=) c.990_994delinsAAAGG (p.Thr330=) | |
11 | g.128839302C>A | CA383243211 | KCNJ1 | c.942G>T (p.Lys314Asn) c.999G>T (p.Lys333Asn) c.993G>T (p.Lys331Asn) | |
11 | g.128839302C= | CA2008286301 | KCNJ1 | c.942G= (p.Lys314=) c.999G= (p.Lys333=) c.993G= (p.Lys331=) | |
11 | g.128839302C>G | CA383243212 | KCNJ1 | c.942G>C (p.Lys314Asn) c.999G>C (p.Lys333Asn) c.993G>C (p.Lys331Asn) | |
11 | g.128839302C>T | CA477702908 | KCNJ1 | c.942G>A (p.Lys314=) c.999G>A (p.Lys333=) c.993G>A (p.Lys331=) | dbSNP |
11 | g.128839302_128839305del | CA6357414 | KCNJ1 | c.939_942del (p.Glu315GlyfsTer?) c.996_999del (p.Glu334GlyfsTer?) c.990_993del (p.Glu332GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839303T>A | CA383243216 | KCNJ1 | c.941A>T (p.Lys314Met) c.998A>T (p.Lys333Met) c.992A>T (p.Lys331Met) | |
11 | g.128839303T>C | CA383243217 | KCNJ1 | c.941A>G (p.Lys314Arg) c.998A>G (p.Lys333Arg) c.992A>G (p.Lys331Arg) | |
11 | g.128839303T>G | CA383243219 | KCNJ1 | c.941A>C (p.Lys314Thr) c.998A>C (p.Lys333Thr) c.992A>C (p.Lys331Thr) | |
11 | g.128839304T>A | CA383243220 | KCNJ1 | c.940A>T (p.Lys314Ter) c.997A>T (p.Lys333Ter) c.991A>T (p.Lys331Ter) | |
11 | g.128839304T>C | CA383243223 | KCNJ1 | c.940A>G (p.Lys314Glu) c.997A>G (p.Lys333Glu) c.991A>G (p.Lys331Glu) | |
11 | g.128839304T>G | CA383243222 | KCNJ1 | c.940A>C (p.Lys314Gln) c.997A>C (p.Lys333Gln) c.991A>C (p.Lys331Gln) | |
11 | g.128839305T>A | CA477702912 | KCNJ1 | c.939A>T (p.Thr313=) c.996A>T (p.Thr332=) c.990A>T (p.Thr330=) | |
11 | g.128839305T>C | CA477702913 | KCNJ1 | c.939A>G (p.Thr313=) c.996A>G (p.Thr332=) c.990A>G (p.Thr330=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839305T>G | CA477702914 | KCNJ1 | c.939A>C (p.Thr313=) c.996A>C (p.Thr332=) c.990A>C (p.Thr330=) | |
11 | g.128839305T= | CA2008286304 | KCNJ1 | c.939A= (p.Thr313=) c.996A= (p.Thr332=) c.990A= (p.Thr330=) | |
11 | g.128839306G>A | CA383243224 | KCNJ1 | c.938C>T (p.Thr313Ile) c.995C>T (p.Thr332Ile) c.989C>T (p.Thr330Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839306G>C | CA383243226 | KCNJ1 | c.938C>G (p.Thr313Arg) c.995C>G (p.Thr332Arg) c.989C>G (p.Thr330Arg) | |
11 | g.128839306G= | CA2008286306 | KCNJ1 | c.938C= (p.Thr313=) c.995C= (p.Thr332=) c.989C= (p.Thr330=) | |
11 | g.128839306G>T | CA6357415 | KCNJ1 | c.938C>A (p.Thr313Lys) c.995C>A (p.Thr332Lys) c.989C>A (p.Thr330Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839307T>A | CA383243228 | KCNJ1 | c.937A>T (p.Thr313Ser) c.994A>T (p.Thr332Ser) c.988A>T (p.Thr330Ser) | |
11 | g.128839307T>C | CA383243230 | KCNJ1 | c.937A>G (p.Thr313Ala) c.994A>G (p.Thr332Ala) c.988A>G (p.Thr330Ala) | |
11 | g.128839307T>G | CA383243231 | KCNJ1 | c.937A>C (p.Thr313Pro) c.994A>C (p.Thr332Pro) c.988A>C (p.Thr330Pro) | |
11 | g.128839308C>A | CA383243234 | KCNJ1 | c.936G>T (p.Lys312Asn) c.993G>T (p.Lys331Asn) c.987G>T (p.Lys329Asn) | |
11 | g.128839308C>G | CA383243233 | KCNJ1 | c.936G>C (p.Lys312Asn) c.993G>C (p.Lys331Asn) c.987G>C (p.Lys329Asn) | |
11 | g.128839308C>T | CA477702916 | KCNJ1 | c.936G>A (p.Lys312=) c.993G>A (p.Lys331=) c.987G>A (p.Lys329=) | |
11 | g.128839309T>A | CA383243236 | KCNJ1 | c.935A>T (p.Lys312Met) c.992A>T (p.Lys331Met) c.986A>T (p.Lys329Met) | |
11 | g.128839309T>C | CA383243238 | KCNJ1 | c.935A>G (p.Lys312Arg) c.992A>G (p.Lys331Arg) c.986A>G (p.Lys329Arg) | gnomAD v4 |
11 | g.128839309T>G | CA383243240 | KCNJ1 | c.935A>C (p.Lys312Thr) c.992A>C (p.Lys331Thr) c.986A>C (p.Lys329Thr) | gnomAD v4 |
11 | g.128839310T>A | CA383243242 | KCNJ1 | c.934A>T (p.Lys312Ter) c.991A>T (p.Lys331Ter) c.985A>T (p.Lys329Ter) | |
11 | g.128839310T>C | CA383243244 | KCNJ1 | c.934A>G (p.Lys312Glu) c.991A>G (p.Lys331Glu) c.985A>G (p.Lys329Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839310T>G | CA383243246 | KCNJ1 | c.934A>C (p.Lys312Gln) c.991A>C (p.Lys331Gln) c.985A>C (p.Lys329Gln) | |
11 | g.128839310T= | CA2008286309 | KCNJ1 | c.934A= (p.Lys312=) c.991A= (p.Lys331=) c.985A= (p.Lys329=) | |
11 | g.128839311G>A | CA477702921 | KCNJ1 | c.933C>T (p.Ser311=) c.990C>T (p.Ser330=) c.984C>T (p.Ser328=) | |
11 | g.128839311G>C | CA477702919 | KCNJ1 | c.933C>G (p.Ser311=) c.990C>G (p.Ser330=) c.984C>G (p.Ser328=) | |
11 | g.128839311G>T | CA477702918 | KCNJ1 | c.933C>A (p.Ser311=) c.990C>A (p.Ser330=) c.984C>A (p.Ser328=) | |
11 | g.128839312G>A | CA383243251 | KCNJ1 | c.932C>T (p.Ser311Phe) c.989C>T (p.Ser330Phe) c.983C>T (p.Ser328Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839312G>C | CA383243248 | KCNJ1 | c.932C>G (p.Ser311Cys) c.989C>G (p.Ser330Cys) c.983C>G (p.Ser328Cys) | |
11 | g.128839312G= | CA2008286310 | KCNJ1 | c.932C= (p.Ser311=) c.989C= (p.Ser330=) c.983C= (p.Ser328=) | |
11 | g.128839312G>T | CA383243250 | KCNJ1 | c.932C>A (p.Ser311Tyr) c.989C>A (p.Ser330Tyr) c.983C>A (p.Ser328Tyr) | dbSNP gnomAD v4 |
11 | g.128839313A>C | CA383243254 | KCNJ1 | c.931T>G (p.Ser311Ala) c.988T>G (p.Ser330Ala) c.982T>G (p.Ser328Ala) | |
11 | g.128839313A>G | CA383243255 | KCNJ1 | c.931T>C (p.Ser311Pro) c.988T>C (p.Ser330Pro) c.982T>C (p.Ser328Pro) | |
11 | g.128839313A>T | CA383243257 | KCNJ1 | c.931T>A (p.Ser311Thr) c.988T>A (p.Ser330Thr) c.982T>A (p.Ser328Thr) | |
11 | g.128839314T>A | CA477702926 | KCNJ1 | c.930A>T (p.Val310=) c.987A>T (p.Val329=) c.981A>T (p.Val327=) | |
11 | g.128839314T>C | CA477702924 | KCNJ1 | c.930A>G (p.Val310=) c.987A>G (p.Val329=) c.981A>G (p.Val327=) | |
11 | g.128839314T>G | CA477702925 | KCNJ1 | c.930A>C (p.Val310=) c.987A>C (p.Val329=) c.981A>C (p.Val327=) | |
11 | g.128839315A>C | CA383243259 | KCNJ1 | c.929T>G (p.Val310Gly) c.986T>G (p.Val329Gly) c.980T>G (p.Val327Gly) | |
11 | g.128839315A>G | CA383243261 | KCNJ1 | c.929T>C (p.Val310Ala) c.986T>C (p.Val329Ala) c.980T>C (p.Val327Ala) | |
11 | g.128839315A>T | CA383243263 | KCNJ1 | c.929T>A (p.Val310Glu) c.986T>A (p.Val329Glu) c.980T>A (p.Val327Glu) | |
11 | g.128839316C>A | CA383243265 | KCNJ1 | c.928G>T (p.Val310Leu) c.985G>T (p.Val329Leu) c.979G>T (p.Val327Leu) | |
11 | g.128839316C>G | CA383243267 | KCNJ1 | c.928G>C (p.Val310Leu) c.985G>C (p.Val329Leu) c.979G>C (p.Val327Leu) | |
11 | g.128839316C>T | CA383243269 | KCNJ1 | c.928G>A (p.Val310Ile) c.985G>A (p.Val329Ile) c.979G>A (p.Val327Ile) | |
11 | g.128839317T>A | CA477702927 | KCNJ1 | c.927A>T (p.Ile309=) c.984A>T (p.Ile328=) c.978A>T (p.Ile326=) | |
11 | g.128839317T>C | CA383243271 | KCNJ1 | c.927A>G (p.Ile309Met) c.984A>G (p.Ile328Met) c.978A>G (p.Ile326Met) | gnomAD v4 |
11 | g.128839317T>G | CA477702928 | KCNJ1 | c.927A>C (p.Ile309=) c.984A>C (p.Ile328=) c.978A>C (p.Ile326=) | |
11 | g.128839318A= | CA2008286311 | KCNJ1 | c.926T= (p.Ile309=) c.983T= (p.Ile328=) c.977T= (p.Ile326=) | |
11 | g.128839318A>C | CA383243273 | KCNJ1 | c.926T>G (p.Ile309Arg) c.983T>G (p.Ile328Arg) c.977T>G (p.Ile326Arg) | |
11 | g.128839318A>G | CA383243274 | KCNJ1 | c.926T>C (p.Ile309Thr) c.983T>C (p.Ile328Thr) c.977T>C (p.Ile326Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839318A>T | CA383243276 | KCNJ1 | c.926T>A (p.Ile309Lys) c.983T>A (p.Ile328Lys) c.977T>A (p.Ile326Lys) | |
11 | g.128839319T>A | CA383243279 | KCNJ1 | c.925A>T (p.Ile309Leu) c.982A>T (p.Ile328Leu) c.976A>T (p.Ile326Leu) | |
11 | g.128839319T>C | CA383243281 | KCNJ1 | c.925A>G (p.Ile309Val) c.982A>G (p.Ile328Val) c.976A>G (p.Ile326Val) | |
11 | g.128839319T>G | CA383243280 | KCNJ1 | c.925A>C (p.Ile309Leu) c.982A>C (p.Ile328Leu) c.976A>C (p.Ile326Leu) | |
11 | g.128839320G>A | CA230627930 | KCNJ1 | c.924C>T (p.Pro308=) c.981C>T (p.Pro327=) c.975C>T (p.Pro325=) | dbSNP |
11 | g.128839320G>C | CA477702929 | KCNJ1 | c.924C>G (p.Pro308=) c.981C>G (p.Pro327=) c.975C>G (p.Pro325=) | gnomAD v4 |
11 | g.128839320G= | CA2008286313 | KCNJ1 | c.924C= (p.Pro308=) c.981C= (p.Pro327=) c.975C= (p.Pro325=) | |
11 | g.128839320G>T | CA477702930 | KCNJ1 | c.924C>A (p.Pro308=) c.981C>A (p.Pro327=) c.975C>A (p.Pro325=) | |
11 | g.128839321G>A | CA6357416 | KCNJ1 | c.923C>T (p.Pro308Leu) c.980C>T (p.Pro327Leu) c.974C>T (p.Pro325Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839321G>C | CA383243285 | KCNJ1 | c.923C>G (p.Pro308Arg) c.980C>G (p.Pro327Arg) c.974C>G (p.Pro325Arg) | |
11 | g.128839321G= | CA2008286315 | KCNJ1 | c.923C= (p.Pro308=) c.980C= (p.Pro327=) c.974C= (p.Pro325=) | |
11 | g.128839321G>T | CA383243286 | KCNJ1 | c.923C>A (p.Pro308His) c.980C>A (p.Pro327His) c.974C>A (p.Pro325His) | |
11 | g.128839322G>A | CA383243288 | KCNJ1 | c.922C>T (p.Pro308Ser) c.979C>T (p.Pro327Ser) c.973C>T (p.Pro325Ser) | |
11 | g.128839322G>C | CA383243289 | KCNJ1 | c.922C>G (p.Pro308Ala) c.979C>G (p.Pro327Ala) c.973C>G (p.Pro325Ala) | |
11 | g.128839322G>T | CA383243291 | KCNJ1 | c.922C>A (p.Pro308Thr) c.979C>A (p.Pro327Thr) c.973C>A (p.Pro325Thr) | |
11 | g.128839323A>C | CA477702932 | KCNJ1 | c.921T>G (p.Ala307=) c.978T>G (p.Ala326=) c.972T>G (p.Ala324=) | |
11 | g.128839323A>G | CA477702933 | KCNJ1 | c.921T>C (p.Ala307=) c.978T>C (p.Ala326=) c.972T>C (p.Ala324=) | |
11 | g.128839323A>T | CA477702934 | KCNJ1 | c.921T>A (p.Ala307=) c.978T>A (p.Ala326=) c.972T>A (p.Ala324=) | |
11 | g.128839324G>A | CA383243294 | KCNJ1 | c.920C>T (p.Ala307Val) c.977C>T (p.Ala326Val) c.971C>T (p.Ala324Val) | gnomAD v4 |
11 | g.128839324G>C | CA383243295 | KCNJ1 | c.920C>G (p.Ala307Gly) c.977C>G (p.Ala326Gly) c.971C>G (p.Ala324Gly) | |
11 | g.128839324G= | CA2008286321 | KCNJ1 | c.920C= (p.Ala307=) c.977C= (p.Ala326=) c.971C= (p.Ala324=) | |
11 | g.128839324G>T | CA6357417 | KCNJ1 | c.920C>A (p.Ala307Asp) c.977C>A (p.Ala326Asp) c.971C>A (p.Ala324Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839324_128839325delinsGC | CA2008286323 | KCNJ1 | c.919_920delinsGC (p.Ala307=) c.976_977delinsGC (p.Ala326=) c.970_971delinsGC (p.Ala324=) | |
11 | g.128839325del | CA943454679 | KCNJ1 | c.919del (p.Ala307LeufsTer3) c.976del (p.Ala326LeufsTer3) c.970del (p.Ala324LeufsTer3) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839325C>A | CA6357418 | KCNJ1 | c.919G>T (p.Ala307Ser) c.976G>T (p.Ala326Ser) c.970G>T (p.Ala324Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839325C= | CA2008286326 | KCNJ1 | c.919G= (p.Ala307=) c.976G= (p.Ala326=) c.970G= (p.Ala324=) | |
11 | g.128839325C>G | CA383243299 | KCNJ1 | c.919G>C (p.Ala307Pro) c.976G>C (p.Ala326Pro) c.970G>C (p.Ala324Pro) | |
11 | g.128839325C>T | CA383243301 | KCNJ1 | c.919G>A (p.Ala307Thr) c.976G>A (p.Ala326Thr) c.970G>A (p.Ala324Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839326A= | CA2008286331 | KCNJ1 | c.918T= (p.Phe306=) c.975T= (p.Phe325=) c.969T= (p.Phe323=) | |
11 | g.128839326A>C | CA230627934 | KCNJ1 | c.918T>G (p.Phe306Leu) c.975T>G (p.Phe325Leu) c.969T>G (p.Phe323Leu) | dbSNP |
11 | g.128839326A>G | CA477702935 | KCNJ1 | c.918T>C (p.Phe306=) c.975T>C (p.Phe325=) c.969T>C (p.Phe323=) | |
11 | g.128839326A>T | CA383243304 | KCNJ1 | c.918T>A (p.Phe306Leu) c.975T>A (p.Phe325Leu) c.969T>A (p.Phe323Leu) | |
11 | g.128839329del | CA2739271798 | KCNJ1 | c.918del (p.Phe306LeufsTer4) c.975del (p.Phe325LeufsTer4) c.969del (p.Phe323LeufsTer4) | ClinVar |
11 | g.128839327A>C | CA383243305 | KCNJ1 | c.917T>G (p.Phe306Cys) c.974T>G (p.Phe325Cys) c.968T>G (p.Phe323Cys) | |
11 | g.128839327A>G | CA383243307 | KCNJ1 | c.917T>C (p.Phe306Ser) c.974T>C (p.Phe325Ser) c.968T>C (p.Phe323Ser) | |
11 | g.128839327A>T | CA383243309 | KCNJ1 | c.917T>A (p.Phe306Tyr) c.974T>A (p.Phe325Tyr) c.968T>A (p.Phe323Tyr) | |
11 | g.128839328A>C | CA383243311 | KCNJ1 | c.916T>G (p.Phe306Val) c.973T>G (p.Phe325Val) c.967T>G (p.Phe323Val) | |
11 | g.128839328A>G | CA383243313 | KCNJ1 | c.916T>C (p.Phe306Leu) c.973T>C (p.Phe325Leu) c.967T>C (p.Phe323Leu) | |
11 | g.128839328A>T | CA383243315 | KCNJ1 | c.916T>A (p.Phe306Ile) c.973T>A (p.Phe325Ile) c.967T>A (p.Phe323Ile) | |
11 | g.128839329A>C | CA477702937 | KCNJ1 | c.915T>G (p.Arg305=) c.972T>G (p.Arg324=) c.966T>G (p.Arg322=) | |
11 | g.128839329A>G | CA477702938 | KCNJ1 | c.915T>C (p.Arg305=) c.972T>C (p.Arg324=) c.966T>C (p.Arg322=) | |
11 | g.128839329A>T | CA477702936 | KCNJ1 | c.915T>A (p.Arg305=) c.972T>A (p.Arg324=) c.966T>A (p.Arg322=) | |
11 | g.128839330C>A | CA383243316 | KCNJ1 | c.914G>T (p.Arg305Leu) c.971G>T (p.Arg324Leu) c.965G>T (p.Arg322Leu) | |
11 | g.128839330C= | CA2008286332 | KCNJ1 | c.914G= (p.Arg305=) c.971G= (p.Arg324=) c.965G= (p.Arg322=) | |
11 | g.128839330C>G | CA383243317 | KCNJ1 | c.914G>C (p.Arg305Pro) c.971G>C (p.Arg324Pro) c.965G>C (p.Arg322Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839330C>T | CA383243319 | KCNJ1 | c.914G>A (p.Arg305His) c.971G>A (p.Arg324His) c.965G>A (p.Arg322His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839331G>A | CA6357419 | KCNJ1 | c.913C>T (p.Arg305Cys) c.970C>T (p.Arg324Cys) c.964C>T (p.Arg322Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839331G>C | CA383243322 | KCNJ1 | c.913C>G (p.Arg305Gly) c.970C>G (p.Arg324Gly) c.964C>G (p.Arg322Gly) | dbSNP gnomAD v4 |
11 | g.128839331G= | CA2008286334 | KCNJ1 | c.913C= (p.Arg305=) c.970C= (p.Arg324=) c.964C= (p.Arg322=) | |
11 | g.128839331G>T | CA383243324 | KCNJ1 | c.913C>A (p.Arg305Ser) c.970C>A (p.Arg324Ser) c.964C>A (p.Arg322Ser) | ClinVar gnomAD v4 |
11 | g.128839332G>A | CA477702940 | KCNJ1 | c.912C>T (p.Tyr304=) c.969C>T (p.Tyr323=) c.963C>T (p.Tyr321=) | |
11 | g.128839332G>C | CA383243326 | KCNJ1 | c.912C>G (p.Tyr304Ter) c.969C>G (p.Tyr323Ter) c.963C>G (p.Tyr321Ter) | |
11 | g.128839332G>T | CA383243327 | KCNJ1 | c.912C>A (p.Tyr304Ter) c.969C>A (p.Tyr323Ter) c.963C>A (p.Tyr321Ter) | |
11 | g.128839333T>A | CA383243328 | KCNJ1 | c.911A>T (p.Tyr304Phe) c.968A>T (p.Tyr323Phe) c.962A>T (p.Tyr321Phe) | |
11 | g.128839333T>C | CA6357420 | KCNJ1 | c.911A>G (p.Tyr304Cys) c.968A>G (p.Tyr323Cys) c.962A>G (p.Tyr321Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839333T>G | CA383243330 | KCNJ1 | c.911A>C (p.Tyr304Ser) c.968A>C (p.Tyr323Ser) c.962A>C (p.Tyr321Ser) | |
11 | g.128839333T= | CA2008286339 | KCNJ1 | c.911A= (p.Tyr304=) c.968A= (p.Tyr323=) c.962A= (p.Tyr321=) | |
11 | g.128839334A>C | CA383243332 | KCNJ1 | c.910T>G (p.Tyr304Asp) c.967T>G (p.Tyr323Asp) c.961T>G (p.Tyr321Asp) | |
11 | g.128839334A>G | CA383243335 | KCNJ1 | c.910T>C (p.Tyr304His) c.967T>C (p.Tyr323His) c.961T>C (p.Tyr321His) | |
11 | g.128839334A>T | CA383243333 | KCNJ1 | c.910T>A (p.Tyr304Asn) c.967T>A (p.Tyr323Asn) c.961T>A (p.Tyr321Asn) | |
11 | g.128839335G>A | CA477702943 | KCNJ1 | c.909C>T (p.Gly303=) c.966C>T (p.Gly322=) c.960C>T (p.Gly320=) | dbSNP gnomAD v4 |
11 | g.128839335G>C | CA477702942 | KCNJ1 | c.909C>G (p.Gly303=) c.966C>G (p.Gly322=) c.960C>G (p.Gly320=) | |
11 | g.128839335G= | CA2008286341 | KCNJ1 | c.909C= (p.Gly303=) c.966C= (p.Gly322=) c.960C= (p.Gly320=) | |
11 | g.128839335G>T | CA477702941 | KCNJ1 | c.909C>A (p.Gly303=) c.966C>A (p.Gly322=) c.960C>A (p.Gly320=) |