Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839231A= | CA2008286196 | KCNJ1 | c.1013T= (p.Met338=) c.1070T= (p.Met357=) c.1064T= (p.Met355=) | |
11 | g.128839231A>C | CA383242947 | KCNJ1 | c.1013T>G (p.Met338Arg) c.1070T>G (p.Met357Arg) c.1064T>G (p.Met355Arg) | |
11 | g.128839231A>G | CA120156 | KCNJ1 | c.1013T>C (p.Met338Thr) c.1070T>C (p.Met357Thr) c.1064T>C (p.Met355Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839231A>T | CA383242948 | KCNJ1 | c.1013T>A (p.Met338Lys) c.1070T>A (p.Met357Lys) c.1064T>A (p.Met355Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839232T>A | CA383242949 | KCNJ1 | c.1012A>T (p.Met338Leu) c.1069A>T (p.Met357Leu) c.1063A>T (p.Met355Leu) | |
11 | g.128839232T>C | CA383242950 | KCNJ1 | c.1012A>G (p.Met338Val) c.1069A>G (p.Met357Val) c.1063A>G (p.Met355Val) | gnomAD v4 |
11 | g.128839232T>G | CA383242951 | KCNJ1 | c.1012A>C (p.Met338Leu) c.1069A>C (p.Met357Leu) c.1063A>C (p.Met355Leu) | |
11 | g.128839233G>A | CA477702738 | KCNJ1 | c.1011C>T (p.Ala337=) c.1068C>T (p.Ala356=) c.1062C>T (p.Ala354=) | |
11 | g.128839233G>C | CA6357401 | KCNJ1 | c.1011C>G (p.Ala337=) c.1068C>G (p.Ala356=) c.1062C>G (p.Ala354=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839233G= | CA2008286200 | KCNJ1 | c.1011C= (p.Ala337=) c.1068C= (p.Ala356=) c.1062C= (p.Ala354=) | |
11 | g.128839233G>T | CA477702739 | KCNJ1 | c.1011C>A (p.Ala337=) c.1068C>A (p.Ala356=) c.1062C>A (p.Ala354=) | |
11 | g.128839234G>A | CA383242952 | KCNJ1 | c.1010C>T (p.Ala337Val) c.1067C>T (p.Ala356Val) c.1061C>T (p.Ala354Val) | gnomAD v4 |
11 | g.128839234G>C | CA383242954 | KCNJ1 | c.1010C>G (p.Ala337Gly) c.1067C>G (p.Ala356Gly) c.1061C>G (p.Ala354Gly) | |
11 | g.128839234G= | CA2008286201 | KCNJ1 | c.1010C= (p.Ala337=) c.1067C= (p.Ala356=) c.1061C= (p.Ala354=) | |
11 | g.128839234G>T | CA383242953 | KCNJ1 | c.1010C>A (p.Ala337Asp) c.1067C>A (p.Ala356Asp) c.1061C>A (p.Ala354Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |