Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839201G>A | CA383242853 | KCNJ1 | c.1043C>T (p.Ala348Val) c.1100C>T (p.Ala367Val) c.1094C>T (p.Ala365Val) | |
11 | g.128839201G>C | CA383242854 | KCNJ1 | c.1043C>G (p.Ala348Gly) c.1100C>G (p.Ala367Gly) c.1094C>G (p.Ala365Gly) | |
11 | g.128839201G= | CA2008286131 | KCNJ1 | c.1043C= (p.Ala348=) c.1100C= (p.Ala367=) c.1094C= (p.Ala365=) | |
11 | g.128839201G>T | CA6357389 | KCNJ1 | c.1043C>A (p.Ala348Asp) c.1100C>A (p.Ala367Asp) c.1094C>A (p.Ala365Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839202C>A | CA383242855 | KCNJ1 | c.1042G>T (p.Ala348Ser) c.1099G>T (p.Ala367Ser) c.1093G>T (p.Ala365Ser) | |
11 | g.128839202C= | CA2008286134 | KCNJ1 | c.1042G= (p.Ala348=) c.1099G= (p.Ala367=) c.1093G= (p.Ala365=) | |
11 | g.128839202C>G | CA383242857 | KCNJ1 | c.1042G>C (p.Ala348Pro) c.1099G>C (p.Ala367Pro) c.1093G>C (p.Ala365Pro) | |
11 | g.128839202C>T | CA230627686 | KCNJ1 | c.1042G>A (p.Ala348Thr) c.1099G>A (p.Ala367Thr) c.1093G>A (p.Ala365Thr) | dbSNP gnomAD v4 |
11 | g.128839203T>A | CA383242860 | KCNJ1 | c.1041A>T (p.Arg347Ser) c.1098A>T (p.Arg366Ser) c.1092A>T (p.Arg364Ser) | |
11 | g.128839203T>C | CA477702714 | KCNJ1 | c.1041A>G (p.Arg347=) c.1098A>G (p.Arg366=) c.1092A>G (p.Arg364=) | |
11 | g.128839203T>G | CA383242859 | KCNJ1 | c.1041A>C (p.Arg347Ser) c.1098A>C (p.Arg366Ser) c.1092A>C (p.Arg364Ser) | |
11 | g.128839203_128839205del | CA2794083156 | KCNJ1 | c.1039_1041del (p.Arg347del) c.1096_1098del (p.Arg366del) c.1090_1092del (p.Arg364del) | |
11 | g.128839204C>A | CA383242862 | KCNJ1 | c.1040G>T (p.Arg347Ile) c.1097G>T (p.Arg366Ile) c.1091G>T (p.Arg364Ile) | |
11 | g.128839204C= | CA2008286136 | KCNJ1 | c.1040G= (p.Arg347=) c.1097G= (p.Arg366=) c.1091G= (p.Arg364=) | |
11 | g.128839204C>G | CA6357390 | KCNJ1 | c.1040G>C (p.Arg347Thr) c.1097G>C (p.Arg366Thr) c.1091G>C (p.Arg364Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839204C>T | CA383242863 | KCNJ1 | c.1040G>A (p.Arg347Lys) c.1097G>A (p.Arg366Lys) c.1091G>A (p.Arg364Lys) | |
11 | g.128839205T>A | CA383242865 | KCNJ1 | c.1039A>T (p.Arg347Ter) c.1096A>T (p.Arg366Ter) c.1090A>T (p.Arg364Ter) | |
11 | g.128839205T>C | CA383242867 | KCNJ1 | c.1039A>G (p.Arg347Gly) c.1096A>G (p.Arg366Gly) c.1090A>G (p.Arg364Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839205T>G | CA477702716 | KCNJ1 | c.1039A>C (p.Arg347=) c.1096A>C (p.Arg366=) c.1090A>C (p.Arg364=) | COSMIC |
11 | g.128839205T= | CA2008286140 | KCNJ1 | c.1039A= (p.Arg347=) c.1096A= (p.Arg366=) c.1090A= (p.Arg364=) | |
11 | g.128839206A= | CA2008286142 | KCNJ1 | c.1038T= (p.Val346=) c.1095T= (p.Val365=) c.1089T= (p.Val363=) | |
11 | g.128839206A>C | CA477702718 | KCNJ1 | c.1038T>G (p.Val346=) c.1095T>G (p.Val365=) c.1089T>G (p.Val363=) | |
11 | g.128839206A>G | CA230627697 | KCNJ1 | c.1038T>C (p.Val346=) c.1095T>C (p.Val365=) c.1089T>C (p.Val363=) | dbSNP gnomAD v4 |
11 | g.128839206A>T | CA477702719 | KCNJ1 | c.1038T>A (p.Val346=) c.1095T>A (p.Val365=) c.1089T>A (p.Val363=) | |
11 | g.128839206_128839207insGCGGAG | CA2794083157 | KCNJ1 | c.1037_1038insCTCCGC (p.Val346_Arg347insSerAla) c.1094_1095insCTCCGC (p.Val365_Arg366insSerAla) c.1088_1089insCTCCGC (p.Val363_Arg364insSerAla) | |
11 | g.128839207A>C | CA383242874 | KCNJ1 | c.1037T>G (p.Val346Gly) c.1094T>G (p.Val365Gly) c.1088T>G (p.Val363Gly) | |
11 | g.128839207A>G | CA383242870 | KCNJ1 | c.1037T>C (p.Val346Ala) c.1094T>C (p.Val365Ala) c.1088T>C (p.Val363Ala) | |
11 | g.128839207A>T | CA383242872 | KCNJ1 | c.1037T>A (p.Val346Asp) c.1094T>A (p.Val365Asp) c.1088T>A (p.Val363Asp) | |
11 | g.128839208C>A | CA383242877 | KCNJ1 | c.1036G>T (p.Val346Phe) c.1093G>T (p.Val365Phe) c.1087G>T (p.Val363Phe) | |
11 | g.128839208C= | CA2008286144 | KCNJ1 | c.1036G= (p.Val346=) c.1093G= (p.Val365=) c.1087G= (p.Val363=) | |
11 | g.128839208C>G | CA383242878 | KCNJ1 | c.1036G>C (p.Val346Leu) c.1093G>C (p.Val365Leu) c.1087G>C (p.Val363Leu) | |
11 | g.128839208C>T | CA6357391 | KCNJ1 | c.1036G>A (p.Val346Ile) c.1093G>A (p.Val365Ile) c.1087G>A (p.Val363Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839209A>C | CA383242881 | KCNJ1 | c.1035T>G (p.Asp345Glu) c.1092T>G (p.Asp364Glu) c.1086T>G (p.Asp362Glu) | |
11 | g.128839209A>G | CA477702721 | KCNJ1 | c.1035T>C (p.Asp345=) c.1092T>C (p.Asp364=) c.1086T>C (p.Asp362=) | |
11 | g.128839209A>T | CA383242883 | KCNJ1 | c.1035T>A (p.Asp345Glu) c.1092T>A (p.Asp364Glu) c.1086T>A (p.Asp362Glu) | |
11 | g.128839209_128839210del | CA2794083158 | KCNJ1 | c.1034_1035del (p.Asp345GlyfsTer2) c.1091_1092del (p.Asp364GlyfsTer2) c.1085_1086del (p.Asp362GlyfsTer2) | |
11 | g.128839210T>A | CA383242887 | KCNJ1 | c.1034A>T (p.Asp345Val) c.1091A>T (p.Asp364Val) c.1085A>T (p.Asp362Val) | |
11 | g.128839210T>C | CA6357392 | KCNJ1 | c.1034A>G (p.Asp345Gly) c.1091A>G (p.Asp364Gly) c.1085A>G (p.Asp362Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839210T>G | CA6357393 | KCNJ1 | c.1034A>C (p.Asp345Ala) c.1091A>C (p.Asp364Ala) c.1085A>C (p.Asp362Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839210T= | CA2008286152 | KCNJ1 | c.1034A= (p.Asp345=) c.1091A= (p.Asp364=) c.1085A= (p.Asp362=) | |
11 | g.128839211C>A | CA383242888 | KCNJ1 | c.1033G>T (p.Asp345Tyr) c.1090G>T (p.Asp364Tyr) c.1084G>T (p.Asp362Tyr) | |
11 | g.128839211C= | CA2008286155 | KCNJ1 | c.1033G= (p.Asp345=) c.1090G= (p.Asp364=) c.1084G= (p.Asp362=) | |
11 | g.128839211C>G | CA383242890 | KCNJ1 | c.1033G>C (p.Asp345His) c.1090G>C (p.Asp364His) c.1084G>C (p.Asp362His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839211C>T | CA383242892 | KCNJ1 | c.1033G>A (p.Asp345Asn) c.1090G>A (p.Asp364Asn) c.1084G>A (p.Asp362Asn) | |
11 | g.128839212T>A | CA383242893 | KCNJ1 | c.1032A>T (p.Lys344Asn) c.1089A>T (p.Lys363Asn) c.1083A>T (p.Lys361Asn) | |
11 | g.128839212T>C | CA477702722 | KCNJ1 | c.1032A>G (p.Lys344=) c.1089A>G (p.Lys363=) c.1083A>G (p.Lys361=) | |
11 | g.128839212T>G | CA383242895 | KCNJ1 | c.1032A>C (p.Lys344Asn) c.1089A>C (p.Lys363Asn) c.1083A>C (p.Lys361Asn) | |
11 | g.128839213T>A | CA383242896 | KCNJ1 | c.1031A>T (p.Lys344Ile) c.1088A>T (p.Lys363Ile) c.1082A>T (p.Lys361Ile) | |
11 | g.128839213T>C | CA383242897 | KCNJ1 | c.1031A>G (p.Lys344Arg) c.1088A>G (p.Lys363Arg) c.1082A>G (p.Lys361Arg) | |
11 | g.128839213T>G | CA6357394 | KCNJ1 | c.1031A>C (p.Lys344Thr) c.1088A>C (p.Lys363Thr) c.1082A>C (p.Lys361Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839213T= | CA2008286158 | KCNJ1 | c.1031A= (p.Lys344=) c.1088A= (p.Lys363=) c.1082A= (p.Lys361=) | |
11 | g.128839214T>A | CA383242901 | KCNJ1 | c.1030A>T (p.Lys344Ter) c.1087A>T (p.Lys363Ter) c.1081A>T (p.Lys361Ter) | |
11 | g.128839214T>C | CA383242902 | KCNJ1 | c.1030A>G (p.Lys344Glu) c.1087A>G (p.Lys363Glu) c.1081A>G (p.Lys361Glu) | |
11 | g.128839214T>G | CA383242904 | KCNJ1 | c.1030A>C (p.Lys344Gln) c.1087A>C (p.Lys363Gln) c.1081A>C (p.Lys361Gln) | |
11 | g.128839215C>A | CA383242906 | KCNJ1 | c.1029G>T (p.Glu343Asp) c.1086G>T (p.Glu362Asp) c.1080G>T (p.Glu360Asp) | |
11 | g.128839215C>G | CA383242908 | KCNJ1 | c.1029G>C (p.Glu343Asp) c.1086G>C (p.Glu362Asp) c.1080G>C (p.Glu360Asp) | |
11 | g.128839215C>T | CA477702726 | KCNJ1 | c.1029G>A (p.Glu343=) c.1086G>A (p.Glu362=) c.1080G>A (p.Glu360=) | |
11 | g.128839216T>A | CA383242910 | KCNJ1 | c.1028A>T (p.Glu343Val) c.1085A>T (p.Glu362Val) c.1079A>T (p.Glu360Val) | dbSNP gnomAD v2 |
11 | g.128839216T>C | CA383242913 | KCNJ1 | c.1028A>G (p.Glu343Gly) c.1085A>G (p.Glu362Gly) c.1079A>G (p.Glu360Gly) | gnomAD v4 |
11 | g.128839216T>G | CA216035 | KCNJ1 | c.1028A>C (p.Glu343Ala) c.1085A>C (p.Glu362Ala) c.1079A>C (p.Glu360Ala) | ClinVar dbSNP |
11 | g.128839216T= | CA2008286160 | KCNJ1 | c.1028A= (p.Glu343=) c.1085A= (p.Glu362=) c.1079A= (p.Glu360=) | |
11 | g.128839216_128839217delinsTC | CA2008286161 | KCNJ1 | c.1027_1028delinsGA (p.Glu343=) c.1084_1085delinsGA (p.Glu362=) c.1078_1079delinsGA (p.Glu360=) | |
11 | g.128839217del | CA2008286167 | KCNJ1 | c.1027del (p.Glu343ArgfsTer8) c.1084del (p.Glu362ArgfsTer8) c.1078del (p.Glu360ArgfsTer8) | |
11 | g.128839217C>A | CA383242915 | KCNJ1 | c.1027G>T (p.Glu343Ter) c.1084G>T (p.Glu362Ter) c.1078G>T (p.Glu360Ter) | |
11 | g.128839217C= | CA2008286168 | KCNJ1 | c.1027G= (p.Glu343=) c.1084G= (p.Glu362=) c.1078G= (p.Glu360=) | |
11 | g.128839217C>G | CA383242918 | KCNJ1 | c.1027G>C (p.Glu343Gln) c.1084G>C (p.Glu362Gln) c.1078G>C (p.Glu360Gln) | |
11 | g.128839217C>T | CA216032 | KCNJ1 | c.1027G>A (p.Glu343Lys) c.1084G>A (p.Glu362Lys) c.1078G>A (p.Glu360Lys) | ClinVar dbSNP gnomAD v4 |
11 | g.128839217_128839218insCAGCAGGACTTTGA | CA2794083159 | KCNJ1 | c.1026_1027insTCAAAGTCCTGCTG (p.Glu343SerfsTer13) c.1083_1084insTCAAAGTCCTGCTG (p.Glu362SerfsTer13) c.1077_1078insTCAAAGTCCTGCTG (p.Glu360SerfsTer13) | |
11 | g.128839218A= | CA2008286173 | KCNJ1 | c.1026T= (p.Asn342=) c.1083T= (p.Asn361=) c.1077T= (p.Asn359=) | |
11 | g.128839218A>C | CA6357395 | KCNJ1 | c.1026T>G (p.Asn342Lys) c.1083T>G (p.Asn361Lys) c.1077T>G (p.Asn359Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839218A>G | CA477702730 | KCNJ1 | c.1026T>C (p.Asn342=) c.1083T>C (p.Asn361=) c.1077T>C (p.Asn359=) | dbSNP |
11 | g.128839218A>T | CA383242919 | KCNJ1 | c.1026T>A (p.Asn342Lys) c.1083T>A (p.Asn361Lys) c.1077T>A (p.Asn359Lys) | |
11 | g.128839219T>A | CA383242920 | KCNJ1 | c.1025A>T (p.Asn342Ile) c.1082A>T (p.Asn361Ile) c.1076A>T (p.Asn359Ile) | |
11 | g.128839219T>C | CA383242921 | KCNJ1 | c.1025A>G (p.Asn342Ser) c.1082A>G (p.Asn361Ser) c.1076A>G (p.Asn359Ser) | |
11 | g.128839219T>G | CA383242922 | KCNJ1 | c.1025A>C (p.Asn342Thr) c.1082A>C (p.Asn361Thr) c.1076A>C (p.Asn359Thr) | |
11 | g.128839220T>A | CA383242923 | KCNJ1 | c.1024A>T (p.Asn342Tyr) c.1081A>T (p.Asn361Tyr) c.1075A>T (p.Asn359Tyr) | |
11 | g.128839220T>C | CA383242924 | KCNJ1 | c.1024A>G (p.Asn342Asp) c.1081A>G (p.Asn361Asp) c.1075A>G (p.Asn359Asp) | |
11 | g.128839220T>G | CA383242925 | KCNJ1 | c.1024A>C (p.Asn342His) c.1081A>C (p.Asn361His) c.1075A>C (p.Asn359His) | |
11 | g.128839221A>C | CA383242926 | KCNJ1 | c.1023T>G (p.Tyr341Ter) c.1080T>G (p.Tyr360Ter) c.1074T>G (p.Tyr358Ter) | |
11 | g.128839221A>G | CA477702731 | KCNJ1 | c.1023T>C (p.Tyr341=) c.1080T>C (p.Tyr360=) c.1074T>C (p.Tyr358=) | |
11 | g.128839221A>T | CA383242927 | KCNJ1 | c.1023T>A (p.Tyr341Ter) c.1080T>A (p.Tyr360Ter) c.1074T>A (p.Tyr358Ter) | |
11 | g.128839221_128839222insGTGGTGTTTT | CA2794083160 | KCNJ1 | c.1022_1023insAAAACACCAC (p.Tyr341Ter) c.1079_1080insAAAACACCAC (p.Tyr360Ter) c.1073_1074insAAAACACCAC (p.Tyr358Ter) | |
11 | g.128839222T>A | CA383242928 | KCNJ1 | c.1022A>T (p.Tyr341Phe) c.1079A>T (p.Tyr360Phe) c.1073A>T (p.Tyr358Phe) | |
11 | g.128839222T>C | CA383242930 | KCNJ1 | c.1022A>G (p.Tyr341Cys) c.1079A>G (p.Tyr360Cys) c.1073A>G (p.Tyr358Cys) | gnomAD v4 |
11 | g.128839222T>G | CA383242929 | KCNJ1 | c.1022A>C (p.Tyr341Ser) c.1079A>C (p.Tyr360Ser) c.1073A>C (p.Tyr358Ser) | |
11 | g.128839223A>C | CA383242931 | KCNJ1 | c.1021T>G (p.Tyr341Asp) c.1078T>G (p.Tyr360Asp) c.1072T>G (p.Tyr358Asp) | |
11 | g.128839223A>G | CA383242932 | KCNJ1 | c.1021T>C (p.Tyr341His) c.1078T>C (p.Tyr360His) c.1072T>C (p.Tyr358His) | gnomAD v4 |
11 | g.128839223A>T | CA383242933 | KCNJ1 | c.1021T>A (p.Tyr341Asn) c.1078T>A (p.Tyr360Asn) c.1072T>A (p.Tyr358Asn) | |
11 | g.128839224_128839225del | CA2794083161 | KCNJ1 | c.1020_1021del (p.Tyr341Ter) c.1077_1078del (p.Tyr360Ter) c.1071_1072del (p.Tyr358Ter) | |
11 | g.128839224A= | CA2008286177 | KCNJ1 | c.1020T= (p.Leu340=) c.1077T= (p.Leu359=) c.1071T= (p.Leu357=) | |
11 | g.128839224A>C | CA477702733 | KCNJ1 | c.1020T>G (p.Leu340=) c.1077T>G (p.Leu359=) c.1071T>G (p.Leu357=) | |
11 | g.128839224A>G | CA6357396 | KCNJ1 | c.1020T>C (p.Leu340=) c.1077T>C (p.Leu359=) c.1071T>C (p.Leu357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839224A>T | CA477702732 | KCNJ1 | c.1020T>A (p.Leu340=) c.1077T>A (p.Leu359=) c.1071T>A (p.Leu357=) | |
11 | g.128839225A= | CA2008286179 | KCNJ1 | c.1019T= (p.Leu340=) c.1076T= (p.Leu359=) c.1070T= (p.Leu357=) | |
11 | g.128839225A>C | CA6357397 | KCNJ1 | c.1019T>G (p.Leu340Arg) c.1076T>G (p.Leu359Arg) c.1070T>G (p.Leu357Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839225A>G | CA383242934 | KCNJ1 | c.1019T>C (p.Leu340Pro) c.1076T>C (p.Leu359Pro) c.1070T>C (p.Leu357Pro) | |
11 | g.128839225A>T | CA383242935 | KCNJ1 | c.1019T>A (p.Leu340His) c.1076T>A (p.Leu359His) c.1070T>A (p.Leu357His) | |
11 | g.128839226G>A | CA383242936 | KCNJ1 | c.1018C>T (p.Leu340Phe) c.1075C>T (p.Leu359Phe) c.1069C>T (p.Leu357Phe) | gnomAD v4 |
11 | g.128839226G>C | CA6357398 | KCNJ1 | c.1018C>G (p.Leu340Val) c.1075C>G (p.Leu359Val) c.1069C>G (p.Leu357Val) | dbSNP ExAC gnomAD v4 |
11 | g.128839226G= | CA2008286182 | KCNJ1 | c.1018C= (p.Leu340=) c.1075C= (p.Leu359=) c.1069C= (p.Leu357=) | |
11 | g.128839226G>T | CA383242937 | KCNJ1 | c.1018C>A (p.Leu340Ile) c.1075C>A (p.Leu359Ile) c.1069C>A (p.Leu357Ile) | |
11 | g.128839227G>A | CA6357399 | KCNJ1 | c.1017C>T (p.Cys339=) c.1074C>T (p.Cys358=) c.1068C>T (p.Cys356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839227G>C | CA383242938 | KCNJ1 | c.1017C>G (p.Cys339Trp) c.1074C>G (p.Cys358Trp) c.1068C>G (p.Cys356Trp) | |
11 | g.128839227G= | CA2008286185 | KCNJ1 | c.1017C= (p.Cys339=) c.1074C= (p.Cys358=) c.1068C= (p.Cys356=) | |
11 | g.128839227G>T | CA6357400 | KCNJ1 | c.1017C>A (p.Cys339Ter) c.1074C>A (p.Cys358Ter) c.1068C>A (p.Cys356Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839227_128839230del | CA2794083162 | KCNJ1 | c.1014_1017del (p.Met338IlefsTer12) c.1071_1074del (p.Met357IlefsTer12) c.1065_1068del (p.Met355IlefsTer12) | |
11 | g.128839228C>A | CA383242939 | KCNJ1 | c.1016G>T (p.Cys339Phe) c.1073G>T (p.Cys358Phe) c.1067G>T (p.Cys356Phe) | COSMIC |
11 | g.128839228C>G | CA383242941 | KCNJ1 | c.1016G>C (p.Cys339Ser) c.1073G>C (p.Cys358Ser) c.1067G>C (p.Cys356Ser) | |
11 | g.128839228C>T | CA383242940 | KCNJ1 | c.1016G>A (p.Cys339Tyr) c.1073G>A (p.Cys358Tyr) c.1067G>A (p.Cys356Tyr) | ClinVar |
11 | g.128839229A>C | CA383242942 | KCNJ1 | c.1015T>G (p.Cys339Gly) c.1072T>G (p.Cys358Gly) c.1066T>G (p.Cys356Gly) | gnomAD v4 |
11 | g.128839229A>G | CA383242943 | KCNJ1 | c.1015T>C (p.Cys339Arg) c.1072T>C (p.Cys358Arg) c.1066T>C (p.Cys356Arg) | |
11 | g.128839229A>T | CA383242944 | KCNJ1 | c.1015T>A (p.Cys339Ser) c.1072T>A (p.Cys358Ser) c.1066T>A (p.Cys356Ser) | gnomAD v4 |
11 | g.128839230C>A | CA383242945 | KCNJ1 | c.1014G>T (p.Met338Ile) c.1071G>T (p.Met357Ile) c.1065G>T (p.Met355Ile) | gnomAD v4 |
11 | g.128839230C= | CA2008286192 | KCNJ1 | c.1014G= (p.Met338=) c.1071G= (p.Met357=) c.1065G= (p.Met355=) | |
11 | g.128839230C>G | CA383242946 | KCNJ1 | c.1014G>C (p.Met338Ile) c.1071G>C (p.Met357Ile) c.1065G>C (p.Met355Ile) | |
11 | g.128839230C>T | CA230627773 | KCNJ1 | c.1014G>A (p.Met338Ile) c.1071G>A (p.Met357Ile) c.1065G>A (p.Met355Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
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=) |