12 | g.5045205C>A | CA383465688 | KCNA5 | c.1058C>A (p.Ser353Tyr)
| |
12 | g.5045205C>G | CA383465689 | KCNA5 | c.1058C>G (p.Ser353Cys)
| |
12 | g.5045205C>T | CA383465690 | KCNA5 | c.1058C>T (p.Ser353Phe)
| gnomAD v4 |
12 | g.5045206C>A | CA478095621 | KCNA5 | c.1059C>A (p.Ser353=)
| |
12 | g.5045206C>G | CA478095624 | KCNA5 | c.1059C>G (p.Ser353=)
| gnomAD v4 COSMIC |
12 | g.5045206C>T | CA478095626 | KCNA5 | c.1059C>T (p.Ser353=)
| |
12 | g.5045207C>A | CA478095629 | KCNA5 | c.1060C>A (p.Arg354=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045207C= | CA2013431126 | KCNA5 | c.1060C= (p.Arg354=)
| |
12 | g.5045207C>G | CA383465691 | KCNA5 | c.1060C>G (p.Arg354Gly)
| |
12 | g.5045207C>T | CA6399795 | KCNA5 | c.1060C>T (p.Arg354Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045208G>A | CA383465692 | KCNA5 | c.1061G>A (p.Arg354Gln)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045208G>C | CA383465693 | KCNA5 | c.1061G>C (p.Arg354Pro)
| |
12 | g.5045208G= | CA2013431127 | KCNA5 | c.1061G= (p.Arg354=)
| |
12 | g.5045208G>T | CA383465694 | KCNA5 | c.1061G>T (p.Arg354Leu)
| |
12 | g.5045209G>A | CA478095632 | KCNA5 | c.1062G>A (p.Arg354=)
| |
12 | g.5045209G>C | CA478095633 | KCNA5 | c.1062G>C (p.Arg354=)
| |
12 | g.5045209G= | CA2013431128 | KCNA5 | c.1062G= (p.Arg354=)
| |
12 | g.5045209G>T | CA6399796 | KCNA5 | c.1062G>T (p.Arg354=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045218_5045226dup | CA603482592 | KCNA5 | c.1071_1079dup (p.Ile359_Ile360insMetAsnIle)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045210A>C | CA383465695 | KCNA5 | c.1063A>C (p.Asn355His)
| |
12 | g.5045210A>G | CA383465696 | KCNA5 | c.1063A>G (p.Asn355Asp)
| gnomAD v4 |
12 | g.5045210A>T | CA383465697 | KCNA5 | c.1063A>T (p.Asn355Tyr)
| |
12 | g.5045211A>C | CA383465698 | KCNA5 | c.1064A>C (p.Asn355Thr)
| |
12 | g.5045211A>G | CA383465699 | KCNA5 | c.1064A>G (p.Asn355Ser)
| |
12 | g.5045211A>T | CA383465700 | KCNA5 | c.1064A>T (p.Asn355Ile)
| |
12 | g.5045212C>A | CA383465701 | KCNA5 | c.1065C>A (p.Asn355Lys)
| gnomAD v4 |
12 | g.5045212C= | CA2013431129 | KCNA5 | c.1065C= (p.Asn355=)
| |
12 | g.5045212C>G | CA383465702 | KCNA5 | c.1065C>G (p.Asn355Lys)
| |
12 | g.5045212C>T | CA478095635 | KCNA5 | c.1065C>T (p.Asn355=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045213A>C | CA383465703 | KCNA5 | c.1066A>C (p.Ile356Leu)
| |
12 | g.5045213A>G | CA383465705 | KCNA5 | c.1066A>G (p.Ile356Val)
| |
12 | g.5045213A>T | CA383465704 | KCNA5 | c.1066A>T (p.Ile356Phe)
| |
12 | g.5045214T>A | CA383465706 | KCNA5 | c.1067T>A (p.Ile356Asn)
| |
12 | g.5045214T>C | CA383465707 | KCNA5 | c.1067T>C (p.Ile356Thr)
| |
12 | g.5045214T>G | CA383465708 | KCNA5 | c.1067T>G (p.Ile356Ser)
| |
12 | g.5045215C>A | CA478095640 | KCNA5 | c.1068C>A (p.Ile356=)
| |
12 | g.5045215C>G | CA383465709 | KCNA5 | c.1068C>G (p.Ile356Met)
| gnomAD v4 |
12 | g.5045215C>T | CA478095642 | KCNA5 | c.1068C>T (p.Ile356=)
| |
12 | g.5045216A= | CA2013431130 | KCNA5 | c.1069A= (p.Met357=)
| |
12 | g.5045216A>C | CA383465710 | KCNA5 | c.1069A>C (p.Met357Leu)
| |
12 | g.5045216A>G | CA231868413 | KCNA5 | c.1069A>G (p.Met357Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045216A>T | CA383465711 | KCNA5 | c.1069A>T (p.Met357Leu)
| |
12 | g.5045217T>A | CA383465713 | KCNA5 | c.1070T>A (p.Met357Lys)
| |
12 | g.5045217T>C | CA6399797 | KCNA5 | c.1070T>C (p.Met357Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045217T>G | CA383465712 | KCNA5 | c.1070T>G (p.Met357Arg)
| |
12 | g.5045217T= | CA2013431131 | KCNA5 | c.1070T= (p.Met357=)
| |
12 | g.5045218G>A | CA383465714 | KCNA5 | c.1071G>A (p.Met357Ile)
| |
12 | g.5045218G>C | CA383465715 | KCNA5 | c.1071G>C (p.Met357Ile)
| |
12 | g.5045218G>T | CA383465716 | KCNA5 | c.1071G>T (p.Met357Ile)
| |
12 | g.5045219A>C | CA383465717 | KCNA5 | c.1072A>C (p.Asn358His)
| |
12 | g.5045219A>G | CA383465718 | KCNA5 | c.1072A>G (p.Asn358Asp)
| |
12 | g.5045219A>T | CA383465719 | KCNA5 | c.1072A>T (p.Asn358Tyr)
| |
12 | g.5045220_5045222del | CA2617209914 | KCNA5 | c.1073_1075del (p.Asn358del)
| gnomAD v4 |
12 | g.5045220A>C | CA383465720 | KCNA5 | c.1073A>C (p.Asn358Thr)
| |
12 | g.5045220A>G | CA383465722 | KCNA5 | c.1073A>G (p.Asn358Ser)
| |
12 | g.5045220A>T | CA383465721 | KCNA5 | c.1073A>T (p.Asn358Ile)
| |
12 | g.5045221C>A | CA383465723 | KCNA5 | c.1074C>A (p.Asn358Lys)
| |
12 | g.5045221C>G | CA383465724 | KCNA5 | c.1074C>G (p.Asn358Lys)
| |
12 | g.5045221C>T | CA478095648 | KCNA5 | c.1074C>T (p.Asn358=)
| |
12 | g.5045222A= | CA2013431132 | KCNA5 | c.1075A= (p.Ile359=)
| |
12 | g.5045222A>C | CA383465725 | KCNA5 | c.1075A>C (p.Ile359Leu)
| |
12 | g.5045222A>G | CA6399798 | KCNA5 | c.1075A>G (p.Ile359Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045222A>T | CA383465726 | KCNA5 | c.1075A>T (p.Ile359Phe)
| |
12 | g.5045222_5045223del | CA2617209915 | KCNA5 | c.1075_1076del (p.Ile359HisfsTer?)
| gnomAD v4 |
12 | g.5045223T>A | CA383465727 | KCNA5 | c.1076T>A (p.Ile359Asn)
| |
12 | g.5045223T>C | CA383465728 | KCNA5 | c.1076T>C (p.Ile359Thr)
| |
12 | g.5045223T>G | CA383465729 | KCNA5 | c.1076T>G (p.Ile359Ser)
| |
12 | g.5045224C>A | CA478095649 | KCNA5 | c.1077C>A (p.Ile359=)
| |
12 | g.5045224C>G | CA383465730 | KCNA5 | c.1077C>G (p.Ile359Met)
| |
12 | g.5045224C>T | CA478095650 | KCNA5 | c.1077C>T (p.Ile359=)
| gnomAD v4 COSMIC |
12 | g.5045225A>C | CA383465731 | KCNA5 | c.1078A>C (p.Ile360Leu)
| |
12 | g.5045225A>G | CA383465732 | KCNA5 | c.1078A>G (p.Ile360Val)
| ClinVar gnomAD v4 |
12 | g.5045225A>T | CA383465733 | KCNA5 | c.1078A>T (p.Ile360Phe)
| |
12 | g.5045226T>A | CA383465734 | KCNA5 | c.1079T>A (p.Ile360Asn)
| |
12 | g.5045226T>C | CA383465736 | KCNA5 | c.1079T>C (p.Ile360Thr)
| dbSNP |
12 | g.5045226T>G | CA383465735 | KCNA5 | c.1079T>G (p.Ile360Ser)
| |
12 | g.5045226T= | CA2013431133 | KCNA5 | c.1079T= (p.Ile360=)
| |
12 | g.5045227C>A | CA478095652 | KCNA5 | c.1080C>A (p.Ile360=)
| |
12 | g.5045227C= | CA2013431134 | KCNA5 | c.1080C= (p.Ile360=)
| |
12 | g.5045227C>G | CA383465737 | KCNA5 | c.1080C>G (p.Ile360Met)
| |
12 | g.5045227C>T | CA6399799 | KCNA5 | c.1080C>T (p.Ile360=)
| dbSNP ExAC gnomAD v4 |
12 | g.5045228G>A | CA383465738 | KCNA5 | c.1081G>A (p.Asp361Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045228G>C | CA383465739 | KCNA5 | c.1081G>C (p.Asp361His)
| |
12 | g.5045228G= | CA2013431135 | KCNA5 | c.1081G= (p.Asp361=)
| |
12 | g.5045228G>T | CA383465740 | KCNA5 | c.1081G>T (p.Asp361Tyr)
| dbSNP |
12 | g.5045229A>C | CA383465741 | KCNA5 | c.1082A>C (p.Asp361Ala)
| |
12 | g.5045229A>G | CA383465742 | KCNA5 | c.1082A>G (p.Asp361Gly)
| gnomAD v4 |
12 | g.5045229A>T | CA383465743 | KCNA5 | c.1082A>T (p.Asp361Val)
| |
12 | g.5045230T>A | CA383465744 | KCNA5 | c.1083T>A (p.Asp361Glu)
| |
12 | g.5045230T>C | CA478095658 | KCNA5 | c.1083T>C (p.Asp361=)
| dbSNP gnomAD v4 |
12 | g.5045230T>G | CA383465745 | KCNA5 | c.1083T>G (p.Asp361Glu)
| |
12 | g.5045230T= | CA2013431136 | KCNA5 | c.1083T= (p.Asp361=)
| |
12 | g.5045231G>A | CA6399800 | KCNA5 | c.1084G>A (p.Val362Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045231G>C | CA383465746 | KCNA5 | c.1084G>C (p.Val362Leu)
| |
12 | g.5045231G= | CA2013431137 | KCNA5 | c.1084G= (p.Val362=)
| |
12 | g.5045231G>T | CA383465747 | KCNA5 | c.1084G>T (p.Val362Leu)
| gnomAD v4 |
12 | g.5045232T>A | CA383465750 | KCNA5 | c.1085T>A (p.Val362Glu)
| |
12 | g.5045232T>C | CA383465748 | KCNA5 | c.1085T>C (p.Val362Ala)
| gnomAD v4 |
12 | g.5045232T>G | CA383465749 | KCNA5 | c.1085T>G (p.Val362Gly)
| |
12 | g.5045232_5045233delinsTG | CA2013431138 | KCNA5 | c.1085_1086delinsTG (p.Val362=)
| |
12 | g.5045233G>A | CA478095378 | KCNA5 | c.1086G>A (p.Val362=)
| |
12 | g.5045233G>C | CA478095379 | KCNA5 | c.1086G>C (p.Val362=)
| |
12 | g.5045233G= | CA2013431139 | KCNA5 | c.1086G= (p.Val362=)
| |
12 | g.5045233G>T | CA478095380 | KCNA5 | c.1086G>T (p.Val362=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045234del | CA919011873 | KCNA5 | c.1087del (p.Val363TrpfsTer?)
| dbSNP gnomAD v4 |
12 | g.5045234G>A | CA383465751 | KCNA5 | c.1087G>A (p.Val363Met)
| gnomAD v4 |
12 | g.5045234G>C | CA383465752 | KCNA5 | c.1087G>C (p.Val363Leu)
| gnomAD v4 |
12 | g.5045234G>T | CA383465753 | KCNA5 | c.1087G>T (p.Val363Leu)
| |
12 | g.5045235T>A | CA383465754 | KCNA5 | c.1088T>A (p.Val363Glu)
| |
12 | g.5045235T>C | CA383465755 | KCNA5 | c.1088T>C (p.Val363Ala)
| |
12 | g.5045235T>G | CA383465756 | KCNA5 | c.1088T>G (p.Val363Gly)
| |
12 | g.5045236G>A | CA478095385 | KCNA5 | c.1089G>A (p.Val363=)
| |
12 | g.5045236G>C | CA478095387 | KCNA5 | c.1089G>C (p.Val363=)
| |
12 | g.5045236G= | CA2013431140 | KCNA5 | c.1089G= (p.Val363=)
| |
12 | g.5045236G>T | CA478095386 | KCNA5 | c.1089G>T (p.Val363=)
| dbSNP |
12 | g.5045237G>A | CA383465757 | KCNA5 | c.1090G>A (p.Ala364Thr)
| gnomAD v4 |
12 | g.5045237G>C | CA383465758 | KCNA5 | c.1090G>C (p.Ala364Pro)
| |
12 | g.5045237G>T | CA383465759 | KCNA5 | c.1090G>T (p.Ala364Ser)
| |
12 | g.5045238C>A | CA383465760 | KCNA5 | c.1091C>A (p.Ala364Asp)
| |
12 | g.5045238C= | CA2013431141 | KCNA5 | c.1091C= (p.Ala364=)
| |
12 | g.5045238C>G | CA231868433 | KCNA5 | c.1091C>G (p.Ala364Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045238C>T | CA383465761 | KCNA5 | c.1091C>T (p.Ala364Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045239C>A | CA478095389 | KCNA5 | c.1092C>A (p.Ala364=)
| |
12 | g.5045239C= | CA2013431142 | KCNA5 | c.1092C= (p.Ala364=)
| |
12 | g.5045239C>G | CA478095393 | KCNA5 | c.1092C>G (p.Ala364=)
| |
12 | g.5045239C>T | CA478095390 | KCNA5 | c.1092C>T (p.Ala364=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045240A= | CA2013431143 | KCNA5 | c.1093A= (p.Ile365=)
| |
12 | g.5045240A>C | CA383465762 | KCNA5 | c.1093A>C (p.Ile365Leu)
| |
12 | g.5045240A>G | CA6399801 | KCNA5 | c.1093A>G (p.Ile365Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045240A>T | CA383465763 | KCNA5 | c.1093A>T (p.Ile365Phe)
| |
12 | g.5045241T>A | CA383465764 | KCNA5 | c.1094T>A (p.Ile365Asn)
| |
12 | g.5045241T>C | CA383465766 | KCNA5 | c.1094T>C (p.Ile365Thr)
| |
12 | g.5045241T>G | CA383465765 | KCNA5 | c.1094T>G (p.Ile365Ser)
| |
12 | g.5045242C>A | CA478095397 | KCNA5 | c.1095C>A (p.Ile365=)
| gnomAD v4 |
12 | g.5045242C>G | CA383465767 | KCNA5 | c.1095C>G (p.Ile365Met)
| COSMIC |
12 | g.5045242C>T | CA478095395 | KCNA5 | c.1095C>T (p.Ile365=)
| |
12 | g.5045243T>A | CA383465768 | KCNA5 | c.1096T>A (p.Phe366Ile)
| |
12 | g.5045243T>C | CA383465769 | KCNA5 | c.1096T>C (p.Phe366Leu)
| gnomAD v4 |
12 | g.5045243T>G | CA383465770 | KCNA5 | c.1096T>G (p.Phe366Val)
| |
12 | g.5045244T>A | CA383465771 | KCNA5 | c.1097T>A (p.Phe366Tyr)
| |
12 | g.5045244T>C | CA383465772 | KCNA5 | c.1097T>C (p.Phe366Ser)
| |
12 | g.5045244T>G | CA383465773 | KCNA5 | c.1097T>G (p.Phe366Cys)
| |
12 | g.5045244T= | CA2013431144 | KCNA5 | c.1097T= (p.Phe366=)
| |
12 | g.5045245C>A | CA383465774 | KCNA5 | c.1098C>A (p.Phe366Leu)
| COSMIC |
12 | g.5045245C>G | CA383465775 | KCNA5 | c.1098C>G (p.Phe366Leu)
| |
12 | g.5045245C>T | CA478095401 | KCNA5 | c.1098C>T (p.Phe366=)
| |
12 | g.5045248dup | CA231868461 | KCNA5 | c.1101dup (p.Tyr368LeufsTer?)
| dbSNP |
12 | g.5045246C>A | CA383465776 | KCNA5 | c.1099C>A (p.Pro367Thr)
| |
12 | g.5045246C= | CA2013431145 | KCNA5 | c.1099C= (p.Pro367=)
| |
12 | g.5045246C>G | CA231868472 | KCNA5 | c.1099C>G (p.Pro367Ala)
| dbSNP |
12 | g.5045246C>T | CA383465777 | KCNA5 | c.1099C>T (p.Pro367Ser)
| gnomAD v4 |
12 | g.5045247C>A | CA383465778 | KCNA5 | c.1100C>A (p.Pro367His)
| COSMIC |
12 | g.5045247C= | CA2013431146 | KCNA5 | c.1100C= (p.Pro367=)
| |
12 | g.5045247C>G | CA383465780 | KCNA5 | c.1100C>G (p.Pro367Arg)
| dbSNP |
12 | g.5045247C>T | CA383465779 | KCNA5 | c.1100C>T (p.Pro367Leu)
| |
12 | g.5045248C>A | CA478095403 | KCNA5 | c.1101C>A (p.Pro367=)
| |
12 | g.5045248C= | CA2013431147 | KCNA5 | c.1101C= (p.Pro367=)
| |
12 | g.5045248C>G | CA478095404 | KCNA5 | c.1101C>G (p.Pro367=)
| |
12 | g.5045248C>T | CA6399802 | KCNA5 | c.1101C>T (p.Pro367=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045249T>A | CA383465781 | KCNA5 | c.1102T>A (p.Tyr368Asn)
| dbSNP gnomAD v4 |
12 | g.5045249T>C | CA383465782 | KCNA5 | c.1102T>C (p.Tyr368His)
| |
12 | g.5045249T>G | CA383465783 | KCNA5 | c.1102T>G (p.Tyr368Asp)
| |
12 | g.5045249T= | CA2013431149 | KCNA5 | c.1102T= (p.Tyr368=)
| |
12 | g.5045249_5045257delinsTACTTCATC | CA2013431148 | KCNA5 | c.1102_1110delinsTACTTCATC (p.Tyr368=)
| |
12 | g.5045250A= | CA2013431150 | KCNA5 | c.1103A= (p.Tyr368=)
| |
12 | g.5045250A>C | CA383465784 | KCNA5 | c.1103A>C (p.Tyr368Ser)
| |
12 | g.5045250A>G | CA383465785 | KCNA5 | c.1103A>G (p.Tyr368Cys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045250A>T | CA383465786 | KCNA5 | c.1103A>T (p.Tyr368Phe)
| gnomAD v4 |
12 | g.5045252_5045259del | CA603482589 | KCNA5 | c.1105_1112del (p.Phe369ProfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045251C>A | CA383465787 | KCNA5 | c.1104C>A (p.Tyr368Ter)
| |
12 | g.5045251C= | CA2013431151 | KCNA5 | c.1104C= (p.Tyr368=)
| |
12 | g.5045251C>G | CA383465788 | KCNA5 | c.1104C>G (p.Tyr368Ter)
| COSMIC |
12 | g.5045251C>T | CA231868473 | KCNA5 | c.1104C>T (p.Tyr368=)
| dbSNP gnomAD v4 |
12 | g.5045252T>A | CA383465790 | KCNA5 | c.1105T>A (p.Phe369Ile)
| gnomAD v4 |
12 | g.5045252T>C | CA383465791 | KCNA5 | c.1105T>C (p.Phe369Leu)
| |
12 | g.5045252T>G | CA383465789 | KCNA5 | c.1105T>G (p.Phe369Val)
| dbSNP |
12 | g.5045252T= | CA2013431152 | KCNA5 | c.1105T= (p.Phe369=)
| |
12 | g.5045253T>A | CA383465792 | KCNA5 | c.1106T>A (p.Phe369Tyr)
| |
12 | g.5045253T>C | CA383465793 | KCNA5 | c.1106T>C (p.Phe369Ser)
| |
12 | g.5045253T>G | CA383465794 | KCNA5 | c.1106T>G (p.Phe369Cys)
| |
12 | g.5045254C>A | CA383465795 | KCNA5 | c.1107C>A (p.Phe369Leu)
| |
12 | g.5045254C>G | CA383465796 | KCNA5 | c.1107C>G (p.Phe369Leu)
| |
12 | g.5045254C>T | CA478095409 | KCNA5 | c.1107C>T (p.Phe369=)
| |
12 | g.5045255A>C | CA383465797 | KCNA5 | c.1108A>C (p.Ile370Leu)
| |
12 | g.5045255A>G | CA383465798 | KCNA5 | c.1108A>G (p.Ile370Val)
| |
12 | g.5045255A>T | CA383465799 | KCNA5 | c.1108A>T (p.Ile370Phe)
| gnomAD v4 |
12 | g.5045256T>A | CA383465800 | KCNA5 | c.1109T>A (p.Ile370Asn)
| |
12 | g.5045256T>C | CA383465801 | KCNA5 | c.1109T>C (p.Ile370Thr)
| |
12 | g.5045256T>G | CA383465802 | KCNA5 | c.1109T>G (p.Ile370Ser)
| |
12 | g.5045257C>A | CA478095411 | KCNA5 | c.1110C>A (p.Ile370=)
| |
12 | g.5045257C>G | CA383465803 | KCNA5 | c.1110C>G (p.Ile370Met)
| |
12 | g.5045257C>T | CA478095412 | KCNA5 | c.1110C>T (p.Ile370=)
| |
12 | g.5045258A>C | CA383465805 | KCNA5 | c.1111A>C (p.Thr371Pro)
| |
12 | g.5045258A>G | CA383465806 | KCNA5 | c.1111A>G (p.Thr371Ala)
| |
12 | g.5045258A>T | CA383465804 | KCNA5 | c.1111A>T (p.Thr371Ser)
| |
12 | g.5045259C>A | CA383465807 | KCNA5 | c.1112C>A (p.Thr371Asn)
| |
12 | g.5045259C= | CA2013431153 | KCNA5 | c.1112C= (p.Thr371=)
| |
12 | g.5045259C>G | CA383465808 | KCNA5 | c.1112C>G (p.Thr371Ser)
| dbSNP |
12 | g.5045259C>T | CA383465809 | KCNA5 | c.1112C>T (p.Thr371Ile)
| gnomAD v4 |
12 | g.5045260C>A | CA478095414 | KCNA5 | c.1113C>A (p.Thr371=)
| |
12 | g.5045260C>G | CA478095415 | KCNA5 | c.1113C>G (p.Thr371=)
| |
12 | g.5045260C>T | CA478095416 | KCNA5 | c.1113C>T (p.Thr371=)
| gnomAD v4 |
12 | g.5045261C>A | CA383465810 | KCNA5 | c.1114C>A (p.Leu372Met)
| ClinVar dbSNP |
12 | g.5045261C= | CA2013431154 | KCNA5 | c.1114C= (p.Leu372=)
| |
12 | g.5045261C>G | CA231868474 | KCNA5 | c.1114C>G (p.Leu372Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045261C>T | CA478095417 | KCNA5 | c.1114C>T (p.Leu372=)
| ClinVar dbSNP |
12 | g.5045262T>A | CA383465813 | KCNA5 | c.1115T>A (p.Leu372Gln)
| |
12 | g.5045262T>C | CA383465811 | KCNA5 | c.1115T>C (p.Leu372Pro)
| |
12 | g.5045262T>G | CA383465812 | KCNA5 | c.1115T>G (p.Leu372Arg)
| |
12 | g.5045263G>A | CA478095418 | KCNA5 | c.1116G>A (p.Leu372=)
| dbSNP gnomAD v4 |
12 | g.5045263G>C | CA478095419 | KCNA5 | c.1116G>C (p.Leu372=)
| |
12 | g.5045263G= | CA2013431155 | KCNA5 | c.1116G= (p.Leu372=)
| |
12 | g.5045263G>T | CA478095420 | KCNA5 | c.1116G>T (p.Leu372=)
| |
12 | g.5045263_5045274delinsGGGCACCGAACT | CA2013431156 | KCNA5 | c.1116_1127delinsGGGCACCGAACT (p.Leu372=)
| |
12 | g.5045264G>A | CA383465814 | KCNA5 | c.1117G>A (p.Gly373Ser)
| gnomAD v4 |
12 | g.5045264G>C | CA383465815 | KCNA5 | c.1117G>C (p.Gly373Arg)
| |
12 | g.5045264G>T | CA383465816 | KCNA5 | c.1117G>T (p.Gly373Cys)
| |
12 | g.5045268_5045278del | CA2013431157 | KCNA5 | c.1121_1131del (p.Thr374ArgfsTer?)
| dbSNP |
12 | g.5045265G>A | CA383465817 | KCNA5 | c.1118G>A (p.Gly373Asp)
| |
12 | g.5045265G>C | CA383465818 | KCNA5 | c.1118G>C (p.Gly373Ala)
| |
12 | g.5045265G= | CA2013431158 | KCNA5 | c.1118G= (p.Gly373=)
| |
12 | g.5045265G>T | CA383465819 | KCNA5 | c.1118G>T (p.Gly373Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045266C>A | CA478095424 | KCNA5 | c.1119C>A (p.Gly373=)
| |
12 | g.5045266C>G | CA478095425 | KCNA5 | c.1119C>G (p.Gly373=)
| |
12 | g.5045266C>T | CA478095426 | KCNA5 | c.1119C>T (p.Gly373=)
| |
12 | g.5045267A>C | CA383465821 | KCNA5 | c.1120A>C (p.Thr374Pro)
| |
12 | g.5045267A>G | CA383465822 | KCNA5 | c.1120A>G (p.Thr374Ala)
| |
12 | g.5045267A>T | CA383465820 | KCNA5 | c.1120A>T (p.Thr374Ser)
| |
12 | g.5045268C>A | CA383465824 | KCNA5 | c.1121C>A (p.Thr374Asn)
| COSMIC |
12 | g.5045268C>G | CA383465823 | KCNA5 | c.1121C>G (p.Thr374Ser)
| |
12 | g.5045268C>T | CA383465825 | KCNA5 | c.1121C>T (p.Thr374Ile)
| gnomAD v4 COSMIC |
12 | g.5045269C>A | CA478095434 | KCNA5 | c.1122C>A (p.Thr374=)
| dbSNP |
12 | g.5045269C= | CA2013431159 | KCNA5 | c.1122C= (p.Thr374=)
| |
12 | g.5045269C>G | CA6399803 | KCNA5 | c.1122C>G (p.Thr374=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045269C>T | CA231868483 | KCNA5 | c.1122C>T (p.Thr374=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045270G>A | CA231868487 | KCNA5 | c.1123G>A (p.Glu375Lys)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045270G>C | CA383465826 | KCNA5 | c.1123G>C (p.Glu375Gln)
| |
12 | g.5045270G= | CA2013431160 | KCNA5 | c.1123G= (p.Glu375=)
| |
12 | g.5045270G>T | CA123122 | KCNA5 | c.1123G>T (p.Glu375Ter)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045271A>C | CA383465827 | KCNA5 | c.1124A>C (p.Glu375Ala)
| |
12 | g.5045271A>G | CA383465829 | KCNA5 | c.1124A>G (p.Glu375Gly)
| |
12 | g.5045271A>T | CA383465828 | KCNA5 | c.1124A>T (p.Glu375Val)
| |
12 | g.5045272A= | CA2013431161 | KCNA5 | c.1125A= (p.Glu375=)
| |
12 | g.5045272A>C | CA383465830 | KCNA5 | c.1125A>C (p.Glu375Asp)
| |
12 | g.5045272A>G | CA478095438 | KCNA5 | c.1125A>G (p.Glu375=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045272A>T | CA383465831 | KCNA5 | c.1125A>T (p.Glu375Asp)
| |
12 | g.5045273C>A | CA383465832 | KCNA5 | c.1126C>A (p.Leu376Met)
| |
12 | g.5045273C= | CA2013431162 | KCNA5 | c.1126C= (p.Leu376=)
| |
12 | g.5045273C>G | CA383465833 | KCNA5 | c.1126C>G (p.Leu376Val)
| |
12 | g.5045273C>T | CA478095441 | KCNA5 | c.1126C>T (p.Leu376=)
| dbSNP gnomAD v4 |
12 | g.5045274T>A | CA383465834 | KCNA5 | c.1127T>A (p.Leu376Gln)
| |
12 | g.5045274T>C | CA383465835 | KCNA5 | c.1127T>C (p.Leu376Pro)
| |
12 | g.5045274T>G | CA383465836 | KCNA5 | c.1127T>G (p.Leu376Arg)
| |
12 | g.5045275G>A | CA478095447 | KCNA5 | c.1128G>A (p.Leu376=)
| |
12 | g.5045275G>C | CA478095446 | KCNA5 | c.1128G>C (p.Leu376=)
| |
12 | g.5045275G>T | CA478095445 | KCNA5 | c.1128G>T (p.Leu376=)
| |
12 | g.5045276G>A | CA383465837 | KCNA5 | c.1129G>A (p.Ala377Thr)
| |
12 | g.5045276G>C | CA383465838 | KCNA5 | c.1129G>C (p.Ala377Pro)
| |
12 | g.5045276G>T | CA383465839 | KCNA5 | c.1129G>T (p.Ala377Ser)
| |
12 | g.5045276_5045277insTG | CA2617209916 | KCNA5 | c.1129_1130insTG (p.Ala377ValfsTer?)
| gnomAD v4 |
12 | g.5045277C>A | CA383465842 | KCNA5 | c.1130C>A (p.Ala377Glu)
| gnomAD v4 |
12 | g.5045277C>G | CA383465841 | KCNA5 | c.1130C>G (p.Ala377Gly)
| |
12 | g.5045277C>T | CA383465840 | KCNA5 | c.1130C>T (p.Ala377Val)
| gnomAD v4 |
12 | g.5045278A>C | CA478095454 | KCNA5 | c.1131A>C (p.Ala377=)
| |
12 | g.5045278A>G | CA478095452 | KCNA5 | c.1131A>G (p.Ala377=)
| |
12 | g.5045278A>T | CA478095451 | KCNA5 | c.1131A>T (p.Ala377=)
| |
12 | g.5045279G>A | CA6399804 | KCNA5 | c.1132G>A (p.Glu378Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045279G>C | CA383465843 | KCNA5 | c.1132G>C (p.Glu378Gln)
| |
12 | g.5045279G= | CA2013431163 | KCNA5 | c.1132G= (p.Glu378=)
| |
12 | g.5045279G>T | CA383465844 | KCNA5 | c.1132G>T (p.Glu378Ter)
| |
12 | g.5045279_5045280insC | CA2617209917 | KCNA5 | c.1132_1133insC (p.Glu378AlafsTer?)
| gnomAD v4 |
12 | g.5045280A= | CA2013431164 | KCNA5 | c.1133A= (p.Glu378=)
| |
12 | g.5045280A>C | CA383465845 | KCNA5 | c.1133A>C (p.Glu378Ala)
| |
12 | g.5045280A>G | CA6399805 | KCNA5 | c.1133A>G (p.Glu378Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045280A>T | CA383465846 | KCNA5 | c.1133A>T (p.Glu378Val)
| |
12 | g.5045281G>A | CA478095458 | KCNA5 | c.1134G>A (p.Glu378=)
| |
12 | g.5045281G>C | CA231868497 | KCNA5 | c.1134G>C (p.Glu378Asp)
| dbSNP gnomAD v4 |
12 | g.5045281G= | CA2013431165 | KCNA5 | c.1134G= (p.Glu378=)
| |
12 | g.5045281G>T | CA383465847 | KCNA5 | c.1134G>T (p.Glu378Asp)
| COSMIC |
12 | g.5045282C>A | CA383465848 | KCNA5 | c.1135C>A (p.Gln379Lys)
| |
12 | g.5045282C>G | CA383465849 | KCNA5 | c.1135C>G (p.Gln379Glu)
| |
12 | g.5045282C>T | CA383465850 | KCNA5 | c.1135C>T (p.Gln379Ter)
| |
12 | g.5045283A>C | CA383465853 | KCNA5 | c.1136A>C (p.Gln379Pro)
| ClinVar dbSNP |
12 | g.5045283A>G | CA383465852 | KCNA5 | c.1136A>G (p.Gln379Arg)
| |
12 | g.5045283A>T | CA383465851 | KCNA5 | c.1136A>T (p.Gln379Leu)
| gnomAD v4 |
12 | g.5045284G>A | CA478095461 | KCNA5 | c.1137G>A (p.Gln379=)
| gnomAD v4 |
12 | g.5045284G>C | CA383465854 | KCNA5 | c.1137G>C (p.Gln379His)
| |
12 | g.5045284G>T | CA383465855 | KCNA5 | c.1137G>T (p.Gln379His)
| |
12 | g.5045284_5045285insGAGCAGCAAC | CA2617209918 | KCNA5 | c.1137_1138insGAGCAGCAAC (p.Gln380GlufsTer?)
| gnomAD v4 |
12 | g.5045285C>A | CA383465856 | KCNA5 | c.1138C>A (p.Gln380Lys)
| |
12 | g.5045285C= | CA2013431166 | KCNA5 | c.1138C= (p.Gln380=)
| |
12 | g.5045285C>G | CA383465857 | KCNA5 | c.1138C>G (p.Gln380Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045285C>T | CA383465858 | KCNA5 | c.1138C>T (p.Gln380Ter)
| gnomAD v4 |
12 | g.5045286A>C | CA383465859 | KCNA5 | c.1139A>C (p.Gln380Pro)
| |
12 | g.5045286A>G | CA383465860 | KCNA5 | c.1139A>G (p.Gln380Arg)
| gnomAD v3 gnomAD v4 |
12 | g.5045286A>T | CA383465861 | KCNA5 | c.1139A>T (p.Gln380Leu)
| |
12 | g.5045287G>A | CA478095463 | KCNA5 | c.1140G>A (p.Gln380=)
| |
12 | g.5045287G>C | CA383465862 | KCNA5 | c.1140G>C (p.Gln380His)
| |
12 | g.5045287G>T | CA383465863 | KCNA5 | c.1140G>T (p.Gln380His)
| |
12 | g.5045288C>A | CA6399806 | KCNA5 | c.1141C>A (p.Pro381Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045288C= | CA2013431167 | KCNA5 | c.1141C= (p.Pro381=)
| |
12 | g.5045288C>G | CA383465864 | KCNA5 | c.1141C>G (p.Pro381Ala)
| |
12 | g.5045288C>T | CA383465865 | KCNA5 | c.1141C>T (p.Pro381Ser)
| |
12 | g.5045289del | CA2536874425 | KCNA5 | c.1142del (p.Pro381GlnfsTer?)
| |
12 | g.5045289C>A | CA383465866 | KCNA5 | c.1142C>A (p.Pro381Gln)
| |
12 | g.5045289C>G | CA383465868 | KCNA5 | c.1142C>G (p.Pro381Arg)
| |
12 | g.5045289C>T | CA383465867 | KCNA5 | c.1142C>T (p.Pro381Leu)
| |
12 | g.5045289_5045290delinsCA | CA2013431168 | KCNA5 | c.1142_1143delinsCA (p.Pro381=)
| |
12 | g.5045290del | CA6399807 | KCNA5 | c.1143del (p.Gly383ValfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045290A= | CA2013431169 | KCNA5 | c.1143A= (p.Pro381=)
| |
12 | g.5045290A>C | CA478095466 | KCNA5 | c.1143A>C (p.Pro381=)
| |
12 | g.5045290A>G | CA478095467 | KCNA5 | c.1143A>G (p.Pro381=)
| |
12 | g.5045290A>T | CA478095465 | KCNA5 | c.1143A>T (p.Pro381=)
| |
12 | g.5045291G>A | CA383465869 | KCNA5 | c.1144G>A (p.Gly382Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045291G>C | CA383465870 | KCNA5 | c.1144G>C (p.Gly382Arg)
| |
12 | g.5045291G= | CA2013431170 | KCNA5 | c.1144G= (p.Gly382=)
| |
12 | g.5045291G>T | CA383465871 | KCNA5 | c.1144G>T (p.Gly382Trp)
| |
12 | g.5045295dup | CA944256293 | KCNA5 | c.1148dup (p.Gly384TrpfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045294_5045295del | CA2617209919 | KCNA5 | c.1147_1148del (p.Gly383TrpfsTer?)
| gnomAD v4 |
12 | g.5045292_5045295del | CA2617209920 | KCNA5 | c.1145_1148del (p.Gly382ValfsTer?)
| gnomAD v4 |
12 | g.5045291_5045292insCC | CA2506265817 | KCNA5 | c.1144_1145insCC (p.Gly382AlafsTer?)
| |
12 | g.5045292G>A | CA383465872 | KCNA5 | c.1145G>A (p.Gly382Glu)
| dbSNP gnomAD v4 |
12 | g.5045292G>C | CA383465873 | KCNA5 | c.1145G>C (p.Gly382Ala)
| |
12 | g.5045292G= | CA2013431171 | KCNA5 | c.1145G= (p.Gly382=)
| |
12 | g.5045292G>T | CA383465874 | KCNA5 | c.1145G>T (p.Gly382Val)
| gnomAD v4 |
12 | g.5045293G>A | CA478095470 | KCNA5 | c.1146G>A (p.Gly382=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045293G>C | CA478095473 | KCNA5 | c.1146G>C (p.Gly382=)
| |
12 | g.5045293G= | CA2013431172 | KCNA5 | c.1146G= (p.Gly382=)
| |
12 | g.5045293G>T | CA478095474 | KCNA5 | c.1146G>T (p.Gly382=)
| gnomAD v4 |
12 | g.5045294G>A | CA231868538 | KCNA5 | c.1147G>A (p.Gly383Ser)
| dbSNP gnomAD v4 |
12 | g.5045294G>C | CA383465875 | KCNA5 | c.1147G>C (p.Gly383Arg)
| |
12 | g.5045294G= | CA2013431173 | KCNA5 | c.1147G= (p.Gly383=)
| |
12 | g.5045294G>T | CA383465876 | KCNA5 | c.1147G>T (p.Gly383Cys)
| |
12 | g.5045295G>A | CA6399808 | KCNA5 | c.1148G>A (p.Gly383Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045295G>C | CA383465878 | KCNA5 | c.1148G>C (p.Gly383Ala)
| |
12 | g.5045295G= | CA2013431174 | KCNA5 | c.1148G= (p.Gly383=)
| |
12 | g.5045295G>T | CA383465877 | KCNA5 | c.1148G>T (p.Gly383Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045295_5045296delinsAC | CA2499221725 | KCNA5 | c.1148_1149delinsAC (p.Gly383Asp)
| ClinVar |
12 | g.5045296del | CA2517155228 | KCNA5 | c.1149del (p.Gly384GlufsTer?)
| |
12 | g.5045296T>A | CA478095481 | KCNA5 | c.1149T>A (p.Gly383=)
| dbSNP |
12 | g.5045296T>C | CA6399809 | KCNA5 | c.1149T>C (p.Gly383=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045296T>G | CA6399810 | KCNA5 | c.1149T>G (p.Gly383=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045296T= | CA2013431175 | KCNA5 | c.1149T= (p.Gly383=)
| |
12 | g.5045296_5045297delinsCA | CA658658115 | KCNA5 | c.1149_1150delinsCA (p.Gly384Arg)
| ClinVar |
12 | g.5045296_5045297insC | CA2617209921 | KCNA5 | c.1149_1150insC (p.Gly384ArgfsTer?)
| gnomAD v4 |
12 | g.5045297G>A | CA199949 | KCNA5 | c.1150G>A (p.Gly384Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045297G>C | CA383465879 | KCNA5 | c.1150G>C (p.Gly384Arg)
| |
12 | g.5045297G= | CA2013431176 | KCNA5 | c.1150G= (p.Gly384=)
| |
12 | g.5045297G>T | CA383465880 | KCNA5 | c.1150G>T (p.Gly384Ter)
| |
12 | g.5045298_5045299insGGG | CA2520099665 | KCNA5 | c.1151_1152insGGG (p.Gly384_Gly385insGly)
| |
12 | g.5045298G>A | CA383465881 | KCNA5 | c.1151G>A (p.Gly384Glu)
| |
12 | g.5045298G>C | CA383465882 | KCNA5 | c.1151G>C (p.Gly384Ala)
| |
12 | g.5045298G>T | CA383465883 | KCNA5 | c.1151G>T (p.Gly384Val)
| |
12 | g.5045299A= | CA2013431177 | KCNA5 | c.1152A= (p.Gly384=)
| |
12 | g.5045299A>C | CA478095488 | KCNA5 | c.1152A>C (p.Gly384=)
| |
12 | g.5045299A>G | CA6399811 | KCNA5 | c.1152A>G (p.Gly384=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045299A>T | CA478095489 | KCNA5 | c.1152A>T (p.Gly384=)
| gnomAD v4 |
12 | g.5045300G>A | CA383465884 | KCNA5 | c.1153G>A (p.Gly385Arg)
| |
12 | g.5045300G>C | CA383465885 | KCNA5 | c.1153G>C (p.Gly385Arg)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045300G= | CA2013431178 | KCNA5 | c.1153G= (p.Gly385=)
| |
12 | g.5045300G>T | CA383465886 | KCNA5 | c.1153G>T (p.Gly385Ter)
| |
12 | g.5045301G>A | CA383465889 | KCNA5 | c.1154G>A (p.Gly385Glu)
| ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.5045301G>C | CA383465888 | KCNA5 | c.1154G>C (p.Gly385Ala)
| |
12 | g.5045301G= | CA2013431179 | KCNA5 | c.1154G= (p.Gly385=)
| |
12 | g.5045301G>T | CA383465887 | KCNA5 | c.1154G>T (p.Gly385Val)
| |
12 | g.5045302A>C | CA478095493 | KCNA5 | c.1155A>C (p.Gly385=)
| |
12 | g.5045302A>G | CA478095494 | KCNA5 | c.1155A>G (p.Gly385=)
| gnomAD v4 |
12 | g.5045302A>T | CA478095495 | KCNA5 | c.1155A>T (p.Gly385=)
| |
12 | g.5045303G>A | CA6399812 | KCNA5 | c.1156G>A (p.Gly386Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045303G>C | CA383465890 | KCNA5 | c.1156G>C (p.Gly386Arg)
| |
12 | g.5045303G= | CA2013431180 | KCNA5 | c.1156G= (p.Gly386=)
| |
12 | g.5045303G>T | CA383465891 | KCNA5 | c.1156G>T (p.Gly386Cys)
| |
12 | g.5045303_5045308del | CA2575052196 | KCNA5 | c.1156_1161del (p.Gly386_Gly387del)
| |
12 | g.5045304G>A | CA383465892 | KCNA5 | c.1157G>A (p.Gly386Asp)
| |
12 | g.5045304G>C | CA383465893 | KCNA5 | c.1157G>C (p.Gly386Ala)
| |
12 | g.5045304G>T | CA383465894 | KCNA5 | c.1157G>T (p.Gly386Val)
| gnomAD v4 |
12 | g.5045305C>A | CA478095503 | KCNA5 | c.1158C>A (p.Gly386=)
| |
12 | g.5045305C>G | CA478095502 | KCNA5 | c.1158C>G (p.Gly386=)
| |
12 | g.5045305C>T | CA478095500 | KCNA5 | c.1158C>T (p.Gly386=)
| gnomAD v4 COSMIC |