Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.62625300A>C | CA340616641 | DOCK7 | c.1090T>G (n.1090T>G) c.1384T>G (p.Phe462Val) c.317T>G c.1060T>G (p.Phe354Val) | |
1 | g.62625300A>G | CA340616646 | DOCK7 | c.1090T>C (n.1090T>C) c.1384T>C (p.Phe462Leu) c.317T>C c.1060T>C (p.Phe354Leu) | |
1 | g.62625300A>T | CA340616645 | DOCK7 | c.1090T>A (n.1090T>A) c.1384T>A (p.Phe462Ile) c.317T>A c.1060T>A (p.Phe354Ile) | |
1 | g.62625301G>A | CA418005948 | DOCK7 | c.1089C>T (n.1089C>T) c.1383C>T (p.Ser461=) c.316C>T c.1059C>T (p.Ser353=) | dbSNP gnomAD v4 |
1 | g.62625301G>C | CA340616656 | DOCK7 | c.1089C>G (n.1089C>G) c.1383C>G (p.Ser461Arg) c.316C>G c.1059C>G (p.Ser353Arg) | |
1 | g.62625301G= | CA1171157842 | DOCK7 | c.1089C= (n.1089C=) c.1383C= (p.Ser461=) c.316C= c.1059C= (p.Ser353=) | |
1 | g.62625301G>T | CA340616657 | DOCK7 | c.1089C>A (n.1089C>A) c.1383C>A (p.Ser461Arg) c.316C>A c.1059C>A (p.Ser353Arg) | |
1 | g.62625302C>A | CA340616663 | DOCK7 | c.1088G>T (n.1088G>T) c.1382G>T (p.Ser461Ile) c.315G>T c.1058G>T (p.Ser353Ile) | |
1 | g.62625302C>G | CA340616666 | DOCK7 | c.1088G>C (n.1088G>C) c.1382G>C (p.Ser461Thr) c.315G>C c.1058G>C (p.Ser353Thr) | |
1 | g.62625302C>T | CA340616665 | DOCK7 | c.1088G>A (n.1088G>A) c.1382G>A (p.Ser461Asn) c.315G>A c.1058G>A (p.Ser353Asn) | |
1 | g.62625303T>A | CA340616667 | DOCK7 | c.1087A>T (n.1087A>T) c.1381A>T (p.Ser461Cys) c.314A>T c.1057A>T (p.Ser353Cys) | |
1 | g.62625303T>C | CA886968 | DOCK7 | c.1087A>G (n.1087A>G) c.1381A>G (p.Ser461Gly) c.314A>G c.1057A>G (p.Ser353Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625303T>G | CA340616668 | DOCK7 | c.1087A>C (n.1087A>C) c.1381A>C (p.Ser461Arg) c.314A>C c.1057A>C (p.Ser353Arg) | |
1 | g.62625303T= | CA1171157843 | DOCK7 | c.1087A= (n.1087A=) c.1381A= (p.Ser461=) c.314A= c.1057A= (p.Ser353=) | |
1 | g.62625304C>A | CA418005949 | DOCK7 | c.1086G>T (n.1086G>T) c.1380G>T (p.Thr460=) c.313G>T c.1056G>T (p.Thr352=) | |
1 | g.62625304C= | CA1141721772 | DOCK7 | c.1086G= (n.1086G=) c.1380G= (p.Thr460=) c.313G= c.1056G= (p.Thr352=) | |
1 | g.62625304C>G | CA418005950 | DOCK7 | c.1086G>C (n.1086G>C) c.1380G>C (p.Thr460=) c.313G>C c.1056G>C (p.Thr352=) | |
1 | g.62625304C>T | CA886969 | DOCK7 | c.1086G>A (n.1086G>A) c.1380G>A (p.Thr460=) c.313G>A c.1056G>A (p.Thr352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625305G>A | CA886970 | DOCK7 | c.1085C>T (n.1085C>T) c.1379C>T (p.Thr460Met) c.312C>T c.1055C>T (p.Thr352Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625305G>C | CA340616674 | DOCK7 | c.1085C>G (n.1085C>G) c.1379C>G (p.Thr460Arg) c.312C>G c.1055C>G (p.Thr352Arg) | gnomAD v4 |
1 | g.62625305G= | CA1143975678 | DOCK7 | c.1085C= (n.1085C=) c.1379C= (p.Thr460=) c.312C= c.1055C= (p.Thr352=) | |
1 | g.62625305G>T | CA340616678 | DOCK7 | c.1085C>A (n.1085C>A) c.1379C>A (p.Thr460Lys) c.312C>A c.1055C>A (p.Thr352Lys) | |
1 | g.62625306T>A | CA340616679 | DOCK7 | c.1084A>T (n.1084A>T) c.1378A>T (p.Thr460Ser) c.311A>T c.1054A>T (p.Thr352Ser) | |
1 | g.62625306T>C | CA340616680 | DOCK7 | c.1084A>G (n.1084A>G) c.1378A>G (p.Thr460Ala) c.311A>G c.1054A>G (p.Thr352Ala) | |
1 | g.62625306T>G | CA340616682 | DOCK7 | c.1084A>C (n.1084A>C) c.1378A>C (p.Thr460Pro) c.311A>C c.1054A>C (p.Thr352Pro) | |
1 | g.62625307C>A | CA340616685 | DOCK7 | c.1083G>T (n.1083G>T) c.1377G>T (p.Leu459Phe) c.310G>T c.1053G>T (p.Leu351Phe) | |
1 | g.62625307C>G | CA340616692 | DOCK7 | c.1083G>C (n.1083G>C) c.1377G>C (p.Leu459Phe) c.310G>C c.1053G>C (p.Leu351Phe) | |
1 | g.62625307C>T | CA418005951 | DOCK7 | c.1083G>A (n.1083G>A) c.1377G>A (p.Leu459=) c.310G>A c.1053G>A (p.Leu351=) | gnomAD v4 |
1 | g.62625308A>C | CA340616694 | DOCK7 | c.1082T>G (n.1082T>G) c.1376T>G (p.Leu459Trp) c.309T>G c.1052T>G (p.Leu351Trp) | |
1 | g.62625308A>G | CA340616703 | DOCK7 | c.1082T>C (n.1082T>C) c.1376T>C (p.Leu459Ser) c.309T>C c.1052T>C (p.Leu351Ser) | |
1 | g.62625308A>T | CA340616701 | DOCK7 | c.1082T>A (n.1082T>A) c.1376T>A (p.Leu459Ter) c.309T>A c.1052T>A (p.Leu351Ter) | |
1 | g.62625309A>C | CA340616706 | DOCK7 | c.1081T>G (n.1081T>G) c.1375T>G (p.Leu459Val) c.308T>G c.1051T>G (p.Leu351Val) | gnomAD v4 |
1 | g.62625309A>G | CA418005952 | DOCK7 | c.1081T>C (n.1081T>C) c.1375T>C (p.Leu459=) c.308T>C c.1051T>C (p.Leu351=) | |
1 | g.62625309A>T | CA340616712 | DOCK7 | c.1081T>A (n.1081T>A) c.1375T>A (p.Leu459Met) c.308T>A c.1051T>A (p.Leu351Met) | |
1 | g.62625310G>A | CA418005953 | DOCK7 | c.1080C>T (n.1080C>T) c.1374C>T (p.Asn458=) c.307C>T c.1050C>T (p.Asn350=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625310G>C | CA340616715 | DOCK7 | c.1080C>G (n.1080C>G) c.1374C>G (p.Asn458Lys) c.307C>G c.1050C>G (p.Asn350Lys) | |
1 | g.62625310G= | CA1171157844 | DOCK7 | c.1080C= (n.1080C=) c.1374C= (p.Asn458=) c.307C= c.1050C= (p.Asn350=) | |
1 | g.62625310G>T | CA340616717 | DOCK7 | c.1080C>A (n.1080C>A) c.1374C>A (p.Asn458Lys) c.307C>A c.1050C>A (p.Asn350Lys) | |
1 | g.62625311T>A | CA340616718 | DOCK7 | c.1079A>T (n.1079A>T) c.1373A>T (p.Asn458Ile) c.306A>T c.1049A>T (p.Asn350Ile) | |
1 | g.62625311T>C | CA340616720 | DOCK7 | c.1079A>G (n.1079A>G) c.1373A>G (p.Asn458Ser) c.306A>G c.1049A>G (p.Asn350Ser) | gnomAD v4 |
1 | g.62625311T>G | CA340616719 | DOCK7 | c.1079A>C (n.1079A>C) c.1373A>C (p.Asn458Thr) c.306A>C c.1049A>C (p.Asn350Thr) | |
1 | g.62625312T>A | CA340616721 | DOCK7 | c.1078A>T (n.1078A>T) c.1372A>T (p.Asn458Tyr) c.305A>T c.1048A>T (p.Asn350Tyr) | |
1 | g.62625312T>C | CA23773337 | DOCK7 | c.1078A>G (n.1078A>G) c.1372A>G (p.Asn458Asp) c.305A>G c.1048A>G (p.Asn350Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625312T>G | CA340616726 | DOCK7 | c.1078A>C (n.1078A>C) c.1372A>C (p.Asn458His) c.305A>C c.1048A>C (p.Asn350His) | |
1 | g.62625312T= | CA1143548859 | DOCK7 | c.1078A= (n.1078A=) c.1372A= (p.Asn458=) c.305A= c.1048A= (p.Asn350=) | |
1 | g.62625313A>C | CA340616737 | DOCK7 | c.1077T>G (n.1077T>G) c.1371T>G (p.Cys457Trp) c.304T>G c.1047T>G (p.Cys349Trp) | |
1 | g.62625313A>G | CA418005954 | DOCK7 | c.1077T>C (n.1077T>C) c.1371T>C (p.Cys457=) c.304T>C c.1047T>C (p.Cys349=) | |
1 | g.62625313A>T | CA340616741 | DOCK7 | c.1077T>A (n.1077T>A) c.1371T>A (p.Cys457Ter) c.304T>A c.1047T>A (p.Cys349Ter) | |
1 | g.62625314C>A | CA340616748 | DOCK7 | c.1076G>T (n.1076G>T) c.1370G>T (p.Cys457Phe) c.303G>T c.1046G>T (p.Cys349Phe) | |
1 | g.62625314C= | CA1171157845 | DOCK7 | c.1076G= (n.1076G=) c.1370G= (p.Cys457=) c.303G= c.1046G= (p.Cys349=) | |
1 | g.62625314C>G | CA340616750 | DOCK7 | c.1076G>C (n.1076G>C) c.1370G>C (p.Cys457Ser) c.303G>C c.1046G>C (p.Cys349Ser) | |
1 | g.62625314C>T | CA340616758 | DOCK7 | c.1076G>A (n.1076G>A) c.1370G>A (p.Cys457Tyr) c.303G>A c.1046G>A (p.Cys349Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625315A= | CA1171157846 | DOCK7 | c.1075T= (n.1075T=) c.1369T= (p.Cys457=) c.302T= c.1045T= (p.Cys349=) | |
1 | g.62625315A>C | CA340616760 | DOCK7 | c.1075T>G (n.1075T>G) c.1369T>G (p.Cys457Gly) c.302T>G c.1045T>G (p.Cys349Gly) | |
1 | g.62625315A>G | CA23773347 | DOCK7 | c.1075T>C (n.1075T>C) c.1369T>C (p.Cys457Arg) c.302T>C c.1045T>C (p.Cys349Arg) | dbSNP |
1 | g.62625315A>T | CA340616763 | DOCK7 | c.1075T>A (n.1075T>A) c.1369T>A (p.Cys457Ser) c.302T>A c.1045T>A (p.Cys349Ser) | |
1 | g.62625316A= | CA1171157847 | DOCK7 | c.1074T= (n.1074T=) c.1368T= (p.Ala456=) c.301T= c.1044T= (p.Ala348=) | |
1 | g.62625316A>C | CA418005955 | DOCK7 | c.1074T>G (n.1074T>G) c.1368T>G (p.Ala456=) c.301T>G c.1044T>G (p.Ala348=) | dbSNP |
1 | g.62625316A>G | CA418005956 | DOCK7 | c.1074T>C (n.1074T>C) c.1368T>C (p.Ala456=) c.301T>C c.1044T>C (p.Ala348=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625316A>T | CA418005957 | DOCK7 | c.1074T>A (n.1074T>A) c.1368T>A (p.Ala456=) c.301T>A c.1044T>A (p.Ala348=) | |
1 | g.62625317G>A | CA23773348 | DOCK7 | c.1073C>T (n.1073C>T) c.1367C>T (p.Ala456Val) c.300C>T c.1043C>T (p.Ala348Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625317G>C | CA340616771 | DOCK7 | c.1073C>G (n.1073C>G) c.1367C>G (p.Ala456Gly) c.300C>G c.1043C>G (p.Ala348Gly) | |
1 | g.62625317G= | CA1171157848 | DOCK7 | c.1073C= (n.1073C=) c.1367C= (p.Ala456=) c.300C= c.1043C= (p.Ala348=) | |
1 | g.62625317G>T | CA340616766 | DOCK7 | c.1073C>A (n.1073C>A) c.1367C>A (p.Ala456Asp) c.300C>A c.1043C>A (p.Ala348Asp) | |
1 | g.62625318C>A | CA340616775 | DOCK7 | c.1072G>T (n.1072G>T) c.1366G>T (p.Ala456Ser) c.299G>T c.1042G>T (p.Ala348Ser) | |
1 | g.62625318C>G | CA340616776 | DOCK7 | c.1072G>C (n.1072G>C) c.1366G>C (p.Ala456Pro) c.299G>C c.1042G>C (p.Ala348Pro) | |
1 | g.62625318C>T | CA340616778 | DOCK7 | c.1072G>A (n.1072G>A) c.1366G>A (p.Ala456Thr) c.299G>A c.1042G>A (p.Ala348Thr) | |
1 | g.62625319A= | CA1143452748 | DOCK7 | c.1071T= (n.1071T=) c.1365T= (p.Asp455=) c.298T= c.1041T= (p.Asp347=) | |
1 | g.62625319A>C | CA340616780 | DOCK7 | c.1071T>G (n.1071T>G) c.1365T>G (p.Asp455Glu) c.298T>G c.1041T>G (p.Asp347Glu) | dbSNP |
1 | g.62625319A>G | CA23773350 | DOCK7 | c.1071T>C (n.1071T>C) c.1365T>C (p.Asp455=) c.298T>C c.1041T>C (p.Asp347=) | ClinVar dbSNP |
1 | g.62625319A>T | CA340616783 | DOCK7 | c.1071T>A (n.1071T>A) c.1365T>A (p.Asp455Glu) c.298T>A c.1041T>A (p.Asp347Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625319_62625320del | CA2645999426 | DOCK7 | c.1070_1071del (n.1070_1071del) c.1364_1365del (p.Asp455GlyfsTer3) c.297_298del c.1040_1041del (p.Asp347GlyfsTer3) | gnomAD v4 |
1 | g.62625320T>A | CA340616790 | DOCK7 | c.1070A>T (n.1070A>T) c.1364A>T (p.Asp455Val) c.297A>T c.1040A>T (p.Asp347Val) | |
1 | g.62625320T>C | CA340616792 | DOCK7 | c.1070A>G (n.1070A>G) c.1364A>G (p.Asp455Gly) c.297A>G c.1040A>G (p.Asp347Gly) | gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.62625320T>G | CA340616798 | DOCK7 | c.1070A>C (n.1070A>C) c.1364A>C (p.Asp455Ala) c.297A>C c.1040A>C (p.Asp347Ala) | |
1 | g.62625321C>A | CA340616802 | DOCK7 | c.1069G>T (n.1069G>T) c.1363G>T (p.Asp455Tyr) c.296G>T c.1039G>T (p.Asp347Tyr) | |
1 | g.62625321C>G | CA340616803 | DOCK7 | c.1069G>C (n.1069G>C) c.1363G>C (p.Asp455His) c.296G>C c.1039G>C (p.Asp347His) | |
1 | g.62625321C>T | CA340616804 | DOCK7 | c.1069G>A (n.1069G>A) c.1363G>A (p.Asp455Asn) c.296G>A c.1039G>A (p.Asp347Asn) | |
1 | g.62625322A= | CA1171157849 | DOCK7 | c.1068T= (n.1068T=) c.1362T= (p.Asp454=) c.295T= c.1038T= (p.Asp346=) | |
1 | g.62625322A>C | CA340616806 | DOCK7 | c.1068T>G (n.1068T>G) c.1362T>G (p.Asp454Glu) c.295T>G c.1038T>G (p.Asp346Glu) | |
1 | g.62625322A>G | CA418005959 | DOCK7 | c.1068T>C (n.1068T>C) c.1362T>C (p.Asp454=) c.295T>C c.1038T>C (p.Asp346=) | |
1 | g.62625322A>T | CA340616805 | DOCK7 | c.1068T>A (n.1068T>A) c.1362T>A (p.Asp454Glu) c.295T>A c.1038T>A (p.Asp346Glu) | dbSNP gnomAD v2 |
1 | g.62625323T>A | CA340616807 | DOCK7 | c.1067A>T (n.1067A>T) c.1361A>T (p.Asp454Val) c.294A>T c.1037A>T (p.Asp346Val) | |
1 | g.62625323T>C | CA340616820 | DOCK7 | c.1067A>G (n.1067A>G) c.1361A>G (p.Asp454Gly) c.294A>G c.1037A>G (p.Asp346Gly) | |
1 | g.62625323T>G | CA340616823 | DOCK7 | c.1067A>C (n.1067A>C) c.1361A>C (p.Asp454Ala) c.294A>C c.1037A>C (p.Asp346Ala) | |
1 | g.62625324C>A | CA340616835 | DOCK7 | c.1066G>T (n.1066G>T) c.1360G>T (p.Asp454Tyr) c.293G>T c.1036G>T (p.Asp346Tyr) | |
1 | g.62625324C= | CA1171157850 | DOCK7 | c.1066G= (n.1066G=) c.1360G= (p.Asp454=) c.293G= c.1036G= (p.Asp346=) | |
1 | g.62625324C>G | CA340616838 | DOCK7 | c.1066G>C (n.1066G>C) c.1360G>C (p.Asp454His) c.293G>C c.1036G>C (p.Asp346His) | |
1 | g.62625324C>T | CA340616843 | DOCK7 | c.1066G>A (n.1066G>A) c.1360G>A (p.Asp454Asn) c.293G>A c.1036G>A (p.Asp346Asn) | dbSNP gnomAD v2 |
1 | g.62625325T>A | CA418005960 | DOCK7 | c.1065A>T (n.1065A>T) c.1359A>T (p.Gly453=) c.292A>T c.1035A>T (p.Gly345=) | |
1 | g.62625325T>C | CA418005961 | DOCK7 | c.1065A>G (n.1065A>G) c.1359A>G (p.Gly453=) c.292A>G c.1035A>G (p.Gly345=) | |
1 | g.62625325T>G | CA418005962 | DOCK7 | c.1065A>C (n.1065A>C) c.1359A>C (p.Gly453=) c.292A>C c.1035A>C (p.Gly345=) | |
1 | g.62625326C>A | CA340616850 | DOCK7 | c.1064G>T (n.1064G>T) c.1358G>T (p.Gly453Val) c.291G>T c.1034G>T (p.Gly345Val) | |
1 | g.62625326C>G | CA340616853 | DOCK7 | c.1064G>C (n.1064G>C) c.1358G>C (p.Gly453Ala) c.291G>C c.1034G>C (p.Gly345Ala) | |
1 | g.62625326C>T | CA340616855 | DOCK7 | c.1064G>A (n.1064G>A) c.1358G>A (p.Gly453Glu) c.291G>A c.1034G>A (p.Gly345Glu) | |
1 | g.62625327C>A | CA340616858 | DOCK7 | c.1063G>T (n.1063G>T) c.1357G>T (p.Gly453Ter) c.290G>T c.1033G>T (p.Gly345Ter) | gnomAD v4 |
1 | g.62625327C>G | CA340616861 | DOCK7 | c.1063G>C (n.1063G>C) c.1357G>C (p.Gly453Arg) c.290G>C c.1033G>C (p.Gly345Arg) | |
1 | g.62625327C>T | CA340616862 | DOCK7 | c.1063G>A (n.1063G>A) c.1357G>A (p.Gly453Arg) c.290G>A c.1033G>A (p.Gly345Arg) | |
1 | g.62625328A= | CA1171157851 | DOCK7 | c.1062T= (n.1062T=) c.1356T= (p.Ser452=) c.289T= c.1032T= (p.Ser344=) | |
1 | g.62625328A>C | CA340616864 | DOCK7 | c.1062T>G (n.1062T>G) c.1356T>G (p.Ser452Arg) c.289T>G c.1032T>G (p.Ser344Arg) | |
1 | g.62625328A>G | CA886971 | DOCK7 | c.1062T>C (n.1062T>C) c.1356T>C (p.Ser452=) c.289T>C c.1032T>C (p.Ser344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625328A>T | CA340616863 | DOCK7 | c.1062T>A (n.1062T>A) c.1356T>A (p.Ser452Arg) c.289T>A c.1032T>A (p.Ser344Arg) | |
1 | g.62625329C>A | CA340616865 | DOCK7 | c.1061G>T (n.1061G>T) c.1355G>T (p.Ser452Ile) c.288G>T c.1031G>T (p.Ser344Ile) | |
1 | g.62625329C= | CA1171157853 | DOCK7 | c.1061G= (n.1061G=) c.1355G= (p.Ser452=) c.288G= c.1031G= (p.Ser344=) | |
1 | g.62625329C>G | CA340616867 | DOCK7 | c.1061G>C (n.1061G>C) c.1355G>C (p.Ser452Thr) c.288G>C c.1031G>C (p.Ser344Thr) | |
1 | g.62625329C>T | CA340616870 | DOCK7 | c.1061G>A (n.1061G>A) c.1355G>A (p.Ser452Asn) c.288G>A c.1031G>A (p.Ser344Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625329_62625332delinsCTTG | CA1171157852 | DOCK7 | c.1058_1061delinsCAAG (n.1058_1061delinsCAAG) c.1352_1355delinsCAAG (p.Thr451=) c.285_288delinsCAAG c.1028_1031delinsCAAG (p.Thr343=) | |
1 | g.62625330T>A | CA340616873 | DOCK7 | c.1060A>T (n.1060A>T) c.1354A>T (p.Ser452Cys) c.287A>T c.1030A>T (p.Ser344Cys) | |
1 | g.62625330T>C | CA886973 | DOCK7 | c.1060A>G (n.1060A>G) c.1354A>G (p.Ser452Gly) c.287A>G c.1030A>G (p.Ser344Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625330T>G | CA340616876 | DOCK7 | c.1060A>C (n.1060A>C) c.1354A>C (p.Ser452Arg) c.287A>C c.1030A>C (p.Ser344Arg) | |
1 | g.62625330T= | CA1142143640 | DOCK7 | c.1060A= (n.1060A=) c.1354A= (p.Ser452=) c.287A= c.1030A= (p.Ser344=) | |
1 | g.62625334_62625336del | CA886972 | DOCK7 | c.1058_1060del (n.1058_1060del) c.1352_1354del (p.Thr451del) c.285_287del c.1028_1030del (p.Thr343del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625331T>A | CA418005964 | DOCK7 | c.1059A>T (n.1059A>T) c.1353A>T (p.Thr451=) c.286A>T c.1029A>T (p.Thr343=) | |
1 | g.62625331T>C | CA886974 | DOCK7 | c.1059A>G (n.1059A>G) c.1353A>G (p.Thr451=) c.286A>G c.1029A>G (p.Thr343=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625331T>G | CA418005963 | DOCK7 | c.1059A>C (n.1059A>C) c.1353A>C (p.Thr451=) c.286A>C c.1029A>C (p.Thr343=) | |
1 | g.62625331T= | CA1171157854 | DOCK7 | c.1059A= (n.1059A=) c.1353A= (p.Thr451=) c.286A= c.1029A= (p.Thr343=) | |
1 | g.62625332G>A | CA886975 | DOCK7 | c.1058C>T (n.1058C>T) c.1352C>T (p.Thr451Ile) c.285C>T c.1028C>T (p.Thr343Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625332G>C | CA340616880 | DOCK7 | c.1058C>G (n.1058C>G) c.1352C>G (p.Thr451Arg) c.285C>G c.1028C>G (p.Thr343Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625332G= | CA1143719739 | DOCK7 | c.1058C= (n.1058C=) c.1352C= (p.Thr451=) c.285C= c.1028C= (p.Thr343=) | |
1 | g.62625332G>T | CA340616884 | DOCK7 | c.1058C>A (n.1058C>A) c.1352C>A (p.Thr451Lys) c.285C>A c.1028C>A (p.Thr343Lys) | |
1 | g.62625332_62625333insAAAGGACAACAAGTGGAGA | CA2830537790 | DOCK7 | c.1057_1058insTCTCCACTTGTTGTCCTTT (n.1057_1058insTCTCCACTTGTTGTCCTTT) c.1351_1352insTCTCCACTTGTTGTCCTTT (p.Thr451IlefsTer11) c.284_285insTCTCCACTTGTTGTCCTTT c.1027_1028insTCTCCACTTGTTGTCCTTT (p.Thr343IlefsTer11) | |
1 | g.62625333T>A | CA23773366 | DOCK7 | c.1057A>T (n.1057A>T) c.1351A>T (p.Thr451Ser) c.284A>T c.1027A>T (p.Thr343Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625333T>C | CA340616889 | DOCK7 | c.1057A>G (n.1057A>G) c.1351A>G (p.Thr451Ala) c.284A>G c.1027A>G (p.Thr343Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625333T>G | CA340616891 | DOCK7 | c.1057A>C (n.1057A>C) c.1351A>C (p.Thr451Pro) c.284A>C c.1027A>C (p.Thr343Pro) | |
1 | g.62625333T= | CA1142078105 | DOCK7 | c.1057A= (n.1057A=) c.1351A= (p.Thr451=) c.284A= c.1027A= (p.Thr343=) | |
1 | g.62625334T>A | CA418005965 | DOCK7 | c.1056A>T (n.1056A>T) c.1350A>T (p.Thr450=) c.283A>T c.1026A>T (p.Thr342=) | |
1 | g.62625334T>C | CA418005967 | DOCK7 | c.1056A>G (n.1056A>G) c.1350A>G (p.Thr450=) c.283A>G c.1026A>G (p.Thr342=) | |
1 | g.62625334T>G | CA418005966 | DOCK7 | c.1056A>C (n.1056A>C) c.1350A>C (p.Thr450=) c.283A>C c.1026A>C (p.Thr342=) | gnomAD v4 |
1 | g.62625335G>A | CA340616900 | DOCK7 | c.1055C>T (n.1055C>T) c.1349C>T (p.Thr450Ile) c.282C>T c.1025C>T (p.Thr342Ile) | |
1 | g.62625335G>C | CA340616910 | DOCK7 | c.1055C>G (n.1055C>G) c.1349C>G (p.Thr450Arg) c.282C>G c.1025C>G (p.Thr342Arg) | |
1 | g.62625335G>T | CA340616906 | DOCK7 | c.1055C>A (n.1055C>A) c.1349C>A (p.Thr450Lys) c.282C>A c.1025C>A (p.Thr342Lys) | |
1 | g.62625336T>A | CA340616912 | DOCK7 | c.1054A>T (n.1054A>T) c.1348A>T (p.Thr450Ser) c.281A>T c.1024A>T (p.Thr342Ser) | |
1 | g.62625336T>C | CA340616914 | DOCK7 | c.1054A>G (n.1054A>G) c.1348A>G (p.Thr450Ala) c.281A>G c.1024A>G (p.Thr342Ala) | |
1 | g.62625336T>G | CA23773367 | DOCK7 | c.1054A>C (n.1054A>C) c.1348A>C (p.Thr450Pro) c.281A>C c.1024A>C (p.Thr342Pro) | dbSNP |
1 | g.62625336T= | CA1143998402 | DOCK7 | c.1054A= (n.1054A=) c.1348A= (p.Thr450=) c.281A= c.1024A= (p.Thr342=) | |
1 | g.62625337C>A | CA340616917 | DOCK7 | c.1053G>T (n.1053G>T) c.1347G>T (p.Arg449Ser) c.280G>T c.1023G>T (p.Arg341Ser) | |
1 | g.62625337C= | CA1171157855 | DOCK7 | c.1053G= (n.1053G=) c.1347G= (p.Arg449=) c.280G= c.1023G= (p.Arg341=) | |
1 | g.62625337C>G | CA340616922 | DOCK7 | c.1053G>C (n.1053G>C) c.1347G>C (p.Arg449Ser) c.280G>C c.1023G>C (p.Arg341Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625337C>T | CA418005968 | DOCK7 | c.1053G>A (n.1053G>A) c.1347G>A (p.Arg449=) c.280G>A c.1023G>A (p.Arg341=) | |
1 | g.62625338C>A | CA340616930 | DOCK7 | c.1052G>T (n.1052G>T) c.1346G>T (p.Arg449Met) c.279G>T c.1022G>T (p.Arg341Met) | |
1 | g.62625338C= | CA1171157856 | DOCK7 | c.1052G= (n.1052G=) c.1346G= (p.Arg449=) c.279G= c.1022G= (p.Arg341=) | |
1 | g.62625338C>G | CA23773375 | DOCK7 | c.1052G>C (n.1052G>C) c.1346G>C (p.Arg449Thr) c.279G>C c.1022G>C (p.Arg341Thr) | dbSNP gnomAD v4 |
1 | g.62625338C>T | CA340616933 | DOCK7 | c.1052G>A (n.1052G>A) c.1346G>A (p.Arg449Lys) c.279G>A c.1022G>A (p.Arg341Lys) | |
1 | g.62625339T>A | CA340616937 | DOCK7 | c.1051A>T (n.1051A>T) c.1345A>T (p.Arg449Trp) c.278A>T c.1021A>T (p.Arg341Trp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625339T>C | CA340616940 | DOCK7 | c.1051A>G (n.1051A>G) c.1345A>G (p.Arg449Gly) c.278A>G c.1021A>G (p.Arg341Gly) | gnomAD v4 |
1 | g.62625339T>G | CA418005969 | DOCK7 | c.1051A>C (n.1051A>C) c.1345A>C (p.Arg449=) c.278A>C c.1021A>C (p.Arg341=) | |
1 | g.62625339T= | CA1171157857 | DOCK7 | c.1051A= (n.1051A=) c.1345A= (p.Arg449=) c.278A= c.1021A= (p.Arg341=) | |
1 | g.62625340T>A | CA340616947 | DOCK7 | c.1050A>T (n.1050A>T) c.1344A>T (p.Glu448Asp) c.277A>T c.1020A>T (p.Glu340Asp) | |
1 | g.62625340T>C | CA418005970 | DOCK7 | c.1050A>G (n.1050A>G) c.1344A>G (p.Glu448=) c.277A>G c.1020A>G (p.Glu340=) | ClinVar |
1 | g.62625340T>G | CA340616951 | DOCK7 | c.1050A>C (n.1050A>C) c.1344A>C (p.Glu448Asp) c.277A>C c.1020A>C (p.Glu340Asp) | |
1 | g.62625341T>A | CA340616954 | DOCK7 | c.1049A>T (n.1049A>T) c.1343A>T (p.Glu448Val) c.276A>T c.1019A>T (p.Glu340Val) | |
1 | g.62625341T>C | CA340616961 | DOCK7 | c.1049A>G (n.1049A>G) c.1343A>G (p.Glu448Gly) c.276A>G c.1019A>G (p.Glu340Gly) | |
1 | g.62625341T>G | CA340616959 | DOCK7 | c.1049A>C (n.1049A>C) c.1343A>C (p.Glu448Ala) c.276A>C c.1019A>C (p.Glu340Ala) | |
1 | g.62625342C>A | CA340616964 | DOCK7 | c.1048G>T (n.1048G>T) c.1342G>T (p.Glu448Ter) c.275G>T c.1018G>T (p.Glu340Ter) | |
1 | g.62625342C>G | CA340616966 | DOCK7 | c.1048G>C (n.1048G>C) c.1342G>C (p.Glu448Gln) c.275G>C c.1018G>C (p.Glu340Gln) | |
1 | g.62625342C>T | CA340616974 | DOCK7 | c.1048G>A (n.1048G>A) c.1342G>A (p.Glu448Lys) c.275G>A c.1018G>A (p.Glu340Lys) | gnomAD v4 |
1 | g.62625343A>C | CA418005972 | DOCK7 | c.1047T>G (n.1047T>G) c.1341T>G (p.Leu447=) c.274T>G c.1017T>G (p.Leu339=) | |
1 | g.62625343A>G | CA418005973 | DOCK7 | c.1047T>C (n.1047T>C) c.1341T>C (p.Leu447=) c.274T>C c.1017T>C (p.Leu339=) | |
1 | g.62625343A>T | CA418005974 | DOCK7 | c.1047T>A (n.1047T>A) c.1341T>A (p.Leu447=) c.274T>A c.1017T>A (p.Leu339=) | |
1 | g.62625344A= | CA1171157858 | DOCK7 | c.1046T= (n.1046T=) c.1340T= (p.Leu447=) c.273T= c.1016T= (p.Leu339=) | |
1 | g.62625344A>C | CA340616979 | DOCK7 | c.1046T>G (n.1046T>G) c.1340T>G (p.Leu447Arg) c.273T>G c.1016T>G (p.Leu339Arg) | |
1 | g.62625344A>G | CA340616983 | DOCK7 | c.1046T>C (n.1046T>C) c.1340T>C (p.Leu447Pro) c.273T>C c.1016T>C (p.Leu339Pro) | dbSNP |
1 | g.62625344A>T | CA340616984 | DOCK7 | c.1046T>A (n.1046T>A) c.1340T>A (p.Leu447His) c.273T>A c.1016T>A (p.Leu339His) | |
1 | g.62625345G>A | CA340616986 | DOCK7 | c.1045C>T (n.1045C>T) c.1339C>T (p.Leu447Phe) c.272C>T c.1015C>T (p.Leu339Phe) | COSMIC COSMIC COSMIC |
1 | g.62625345G>C | CA340616988 | DOCK7 | c.1045C>G (n.1045C>G) c.1339C>G (p.Leu447Val) c.272C>G c.1015C>G (p.Leu339Val) | gnomAD v4 |
1 | g.62625345G>T | CA340616989 | DOCK7 | c.1045C>A (n.1045C>A) c.1339C>A (p.Leu447Ile) c.272C>A c.1015C>A (p.Leu339Ile) | |
1 | g.62625346T>A | CA418005975 | DOCK7 | c.1044A>T (n.1044A>T) c.1338A>T (p.Ser446=) c.271A>T c.1014A>T (p.Ser338=) | |
1 | g.62625346T>C | CA418005976 | DOCK7 | c.1044A>G (n.1044A>G) c.1338A>G (p.Ser446=) c.271A>G c.1014A>G (p.Ser338=) | |
1 | g.62625346T>G | CA418005977 | DOCK7 | c.1044A>C (n.1044A>C) c.1338A>C (p.Ser446=) c.271A>C c.1014A>C (p.Ser338=) | |
1 | g.62625347G>A | CA340616992 | DOCK7 | c.1043C>T (n.1043C>T) c.1337C>T (p.Ser446Leu) c.270C>T c.1013C>T (p.Ser338Leu) | |
1 | g.62625347G>C | CA340617006 | DOCK7 | c.1043C>G (n.1043C>G) c.1337C>G (p.Ser446Ter) c.270C>G c.1013C>G (p.Ser338Ter) | |
1 | g.62625347G>T | CA340617008 | DOCK7 | c.1043C>A (n.1043C>A) c.1337C>A (p.Ser446Ter) c.270C>A c.1013C>A (p.Ser338Ter) | |
1 | g.62625348A= | CA1171157859 | DOCK7 | c.1042T= (n.1042T=) c.1336T= (p.Ser446=) c.269T= c.1012T= (p.Ser338=) | |
1 | g.62625348A>C | CA340617016 | DOCK7 | c.1042T>G (n.1042T>G) c.1336T>G (p.Ser446Ala) c.269T>G c.1012T>G (p.Ser338Ala) | |
1 | g.62625348A>G | CA340617015 | DOCK7 | c.1042T>C (n.1042T>C) c.1336T>C (p.Ser446Pro) c.269T>C c.1012T>C (p.Ser338Pro) | |
1 | g.62625348A>T | CA340617011 | DOCK7 | c.1042T>A (n.1042T>A) c.1336T>A (p.Ser446Thr) c.269T>A c.1012T>A (p.Ser338Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625349T>A | CA418005980 | DOCK7 | c.1041A>T (n.1041A>T) c.1335A>T (p.Arg445=) c.268A>T c.1011A>T (p.Arg337=) | |
1 | g.62625349T>C | CA418005978 | DOCK7 | c.1041A>G (n.1041A>G) c.1335A>G (p.Arg445=) c.268A>G c.1011A>G (p.Arg337=) | |
1 | g.62625349T>G | CA418005979 | DOCK7 | c.1041A>C (n.1041A>C) c.1335A>C (p.Arg445=) c.268A>C c.1011A>C (p.Arg337=) | |
1 | g.62625350C>A | CA340617019 | DOCK7 | c.1040G>T (n.1040G>T) c.1334G>T (p.Arg445Leu) c.267G>T c.1010G>T (p.Arg337Leu) | |
1 | g.62625350C= | CA1171157860 | DOCK7 | c.1040G= (n.1040G=) c.1334G= (p.Arg445=) c.267G= c.1010G= (p.Arg337=) | |
1 | g.62625350C>G | CA340617022 | DOCK7 | c.1040G>C (n.1040G>C) c.1334G>C (p.Arg445Pro) c.267G>C c.1010G>C (p.Arg337Pro) | |
1 | g.62625350C>T | CA340617028 | DOCK7 | c.1040G>A (n.1040G>A) c.1334G>A (p.Arg445Gln) c.267G>A c.1010G>A (p.Arg337Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625351G>A | CA886976 | DOCK7 | c.1039C>T (n.1039C>T) c.1333C>T (p.Arg445Ter) c.266C>T c.1009C>T (p.Arg337Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625351G>C | CA340617036 | DOCK7 | c.1039C>G (n.1039C>G) c.1333C>G (p.Arg445Gly) c.266C>G c.1009C>G (p.Arg337Gly) | |
1 | g.62625351G= | CA1171157861 | DOCK7 | c.1039C= (n.1039C=) c.1333C= (p.Arg445=) c.266C= c.1009C= (p.Arg337=) | |
1 | g.62625351G>T | CA418005981 | DOCK7 | c.1039C>A (n.1039C>A) c.1333C>A (p.Arg445=) c.266C>A c.1009C>A (p.Arg337=) | |
1 | g.62625352T>A | CA340617041 | DOCK7 | c.1038A>T (n.1038A>T) c.1332A>T (p.Arg444Ser) c.265A>T c.1008A>T (p.Arg336Ser) | |
1 | g.62625352T>C | CA418005982 | DOCK7 | c.1038A>G (n.1038A>G) c.1332A>G (p.Arg444=) c.265A>G c.1008A>G (p.Arg336=) | ClinVar gnomAD v4 |
1 | g.62625352T>G | CA340617046 | DOCK7 | c.1038A>C (n.1038A>C) c.1332A>C (p.Arg444Ser) c.265A>C c.1008A>C (p.Arg336Ser) | |
1 | g.62625353C>A | CA340617050 | DOCK7 | c.1037G>T (n.1037G>T) c.1331G>T (p.Arg444Ile) c.264G>T c.1007G>T (p.Arg336Ile) | |
1 | g.62625353C>G | CA340617063 | DOCK7 | c.1037G>C (n.1037G>C) c.1331G>C (p.Arg444Thr) c.264G>C c.1007G>C (p.Arg336Thr) | gnomAD v4 |
1 | g.62625353C>T | CA340617065 | DOCK7 | c.1037G>A (n.1037G>A) c.1331G>A (p.Arg444Lys) c.264G>A c.1007G>A (p.Arg336Lys) | |
1 | g.62625354T>A | CA340617067 | DOCK7 | c.1036A>T (n.1036A>T) c.1330A>T (p.Arg444Ter) c.263A>T c.1006A>T (p.Arg336Ter) | |
1 | g.62625354T>C | CA340617069 | DOCK7 | c.1036A>G (n.1036A>G) c.1330A>G (p.Arg444Gly) c.263A>G c.1006A>G (p.Arg336Gly) | |
1 | g.62625354T>G | CA418005983 | DOCK7 | c.1036A>C (n.1036A>C) c.1330A>C (p.Arg444=) c.263A>C c.1006A>C (p.Arg336=) | |
1 | g.62625355G>A | CA418005984 | DOCK7 | c.1035C>T (n.1035C>T) c.1329C>T (p.Gly443=) c.262C>T c.1005C>T (p.Gly335=) | gnomAD v4 |
1 | g.62625355G>C | CA23773386 | DOCK7 | c.1035C>G (n.1035C>G) c.1329C>G (p.Gly443=) c.262C>G c.1005C>G (p.Gly335=) | dbSNP |
1 | g.62625355G= | CA1171157862 | DOCK7 | c.1035C= (n.1035C=) c.1329C= (p.Gly443=) c.262C= c.1005C= (p.Gly335=) | |
1 | g.62625355G>T | CA418005985 | DOCK7 | c.1035C>A (n.1035C>A) c.1329C>A (p.Gly443=) c.262C>A c.1005C>A (p.Gly335=) | |
1 | g.62625356C>A | CA340617076 | DOCK7 | c.1034G>T (n.1034G>T) c.1328G>T (p.Gly443Val) c.261G>T c.1004G>T (p.Gly335Val) | ClinVar dbSNP gnomAD v4 |
1 | g.62625356C= | CA1171157863 | DOCK7 | c.1034G= (n.1034G=) c.1328G= (p.Gly443=) c.261G= c.1004G= (p.Gly335=) | |
1 | g.62625356C>G | CA340617073 | DOCK7 | c.1034G>C (n.1034G>C) c.1328G>C (p.Gly443Ala) c.261G>C c.1004G>C (p.Gly335Ala) | |
1 | g.62625356C>T | CA340617071 | DOCK7 | c.1034G>A (n.1034G>A) c.1328G>A (p.Gly443Asp) c.261G>A c.1004G>A (p.Gly335Asp) | |
1 | g.62625357C>A | CA340617087 | DOCK7 | c.1033G>T (n.1033G>T) c.1327G>T (p.Gly443Cys) c.260G>T c.1003G>T (p.Gly335Cys) | |
1 | g.62625357C>G | CA340617091 | DOCK7 | c.1033G>C (n.1033G>C) c.1327G>C (p.Gly443Arg) c.260G>C c.1003G>C (p.Gly335Arg) | |
1 | g.62625357C>T | CA340617089 | DOCK7 | c.1033G>A (n.1033G>A) c.1327G>A (p.Gly443Ser) c.260G>A c.1003G>A (p.Gly335Ser) | |
1 | g.62625358A= | CA1145929534 | DOCK7 | c.1032T= (n.1032T=) c.1326T= (p.Val442=) c.259T= c.1002T= (p.Val334=) | |
1 | g.62625358A>C | CA418005987 | DOCK7 | c.1032T>G (n.1032T>G) c.1326T>G (p.Val442=) c.259T>G c.1002T>G (p.Val334=) | |
1 | g.62625358A>G | CA418005988 | DOCK7 | c.1032T>C (n.1032T>C) c.1326T>C (p.Val442=) c.259T>C c.1002T>C (p.Val334=) | |
1 | g.62625358A>T | CA886977 | DOCK7 | c.1032T>A (n.1032T>A) c.1326T>A (p.Val442=) c.259T>A c.1002T>A (p.Val334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625359A>C | CA340617103 | DOCK7 | c.1031T>G (n.1031T>G) c.1325T>G (p.Val442Gly) c.258T>G c.1001T>G (p.Val334Gly) | |
1 | g.62625359A>G | CA340617096 | DOCK7 | c.1031T>C (n.1031T>C) c.1325T>C (p.Val442Ala) c.258T>C c.1001T>C (p.Val334Ala) | |
1 | g.62625359A>T | CA340617098 | DOCK7 | c.1031T>A (n.1031T>A) c.1325T>A (p.Val442Asp) c.258T>A c.1001T>A (p.Val334Asp) | |
1 | g.62625360C>A | CA340617116 | DOCK7 | c.1030G>T (n.1030G>T) c.1324G>T (p.Val442Phe) c.257G>T c.1000G>T (p.Val334Phe) | |
1 | g.62625360C= | CA1171157864 | DOCK7 | c.1030G= (n.1030G=) c.1324G= (p.Val442=) c.257G= c.1000G= (p.Val334=) | |
1 | g.62625360C>G | CA340617119 | DOCK7 | c.1030G>C (n.1030G>C) c.1324G>C (p.Val442Leu) c.257G>C c.1000G>C (p.Val334Leu) | |
1 | g.62625360C>T | CA340617127 | DOCK7 | c.1030G>A (n.1030G>A) c.1324G>A (p.Val442Ile) c.257G>A c.1000G>A (p.Val334Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625361A= | CA1143365688 | DOCK7 | c.1029T= (n.1029T=) c.1323T= (p.Ile441=) c.256T= c.999T= (p.Ile333=) | |
1 | g.62625361A>C | CA340617131 | DOCK7 | c.1029T>G (n.1029T>G) c.1323T>G (p.Ile441Met) c.256T>G c.999T>G (p.Ile333Met) | |
1 | g.62625361A>G | CA886978 | DOCK7 | c.1029T>C (n.1029T>C) c.1323T>C (p.Ile441=) c.256T>C c.999T>C (p.Ile333=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625361A>T | CA418005990 | DOCK7 | c.1029T>A (n.1029T>A) c.1323T>A (p.Ile441=) c.256T>A c.999T>A (p.Ile333=) | |
1 | g.62625362A>C | CA340617157 | DOCK7 | c.1028T>G (n.1028T>G) c.1322T>G (p.Ile441Ser) c.255T>G c.998T>G (p.Ile333Ser) | |
1 | g.62625362A>G | CA340617160 | DOCK7 | c.1028T>C (n.1028T>C) c.1322T>C (p.Ile441Thr) c.255T>C c.998T>C (p.Ile333Thr) | |
1 | g.62625362A>T | CA340617161 | DOCK7 | c.1028T>A (n.1028T>A) c.1322T>A (p.Ile441Asn) c.255T>A c.998T>A (p.Ile333Asn) | |
1 | g.62625363T>A | CA340617168 | DOCK7 | c.1027A>T (n.1027A>T) c.1321A>T (p.Ile441Phe) c.254A>T c.997A>T (p.Ile333Phe) | |
1 | g.62625363T>C | CA340617166 | DOCK7 | c.1027A>G (n.1027A>G) c.1321A>G (p.Ile441Val) c.254A>G c.997A>G (p.Ile333Val) | |
1 | g.62625363T>G | CA340617164 | DOCK7 | c.1027A>C (n.1027A>C) c.1321A>C (p.Ile441Leu) c.254A>C c.997A>C (p.Ile333Leu) | |
1 | g.62625364A>C | CA340617173 | DOCK7 | c.1026T>G (n.1026T>G) c.1320T>G (p.Ser440Arg) c.253T>G c.996T>G (p.Ser332Arg) | |
1 | g.62625364A>G | CA418005991 | DOCK7 | c.1026T>C (n.1026T>C) c.1320T>C (p.Ser440=) c.253T>C c.996T>C (p.Ser332=) | |
1 | g.62625364A>T | CA340617185 | DOCK7 | c.1026T>A (n.1026T>A) c.1320T>A (p.Ser440Arg) c.253T>A c.996T>A (p.Ser332Arg) | |
1 | g.62625365C>A | CA340617190 | DOCK7 | c.1025G>T (n.1025G>T) c.1319G>T (p.Ser440Ile) c.252G>T c.995G>T (p.Ser332Ile) | |
1 | g.62625365C>G | CA340617191 | DOCK7 | c.1025G>C (n.1025G>C) c.1319G>C (p.Ser440Thr) c.252G>C c.995G>C (p.Ser332Thr) | |
1 | g.62625365C>T | CA340617192 | DOCK7 | c.1025G>A (n.1025G>A) c.1319G>A (p.Ser440Asn) c.252G>A c.995G>A (p.Ser332Asn) | |
1 | g.62625367_62625378del | CA2645999427 | DOCK7 | c.1014_1025del (n.1014_1025del) c.1308_1319del (p.Arg436_Ser439del) c.241_252del c.984_995del (p.Arg328_Ser331del) | gnomAD v4 |
1 | g.62625366T>A | CA340617193 | DOCK7 | c.1024A>T (n.1024A>T) c.1318A>T (p.Ser440Cys) c.251A>T c.994A>T (p.Ser332Cys) | |
1 | g.62625366T>C | CA340617194 | DOCK7 | c.1024A>G (n.1024A>G) c.1318A>G (p.Ser440Gly) c.251A>G c.994A>G (p.Ser332Gly) | |
1 | g.62625366T>G | CA340617195 | DOCK7 | c.1024A>C (n.1024A>C) c.1318A>C (p.Ser440Arg) c.251A>C c.994A>C (p.Ser332Arg) | |
1 | g.62625367A= | CA1146194979 | DOCK7 | c.1023T= (n.1023T=) c.1317T= (p.Ser439=) c.250T= c.993T= (p.Ser331=) | |
1 | g.62625367A>C | CA418005995 | DOCK7 | c.1023T>G (n.1023T>G) c.1317T>G (p.Ser439=) c.250T>G c.993T>G (p.Ser331=) | |
1 | g.62625367A>G | CA23773394 | DOCK7 | c.1023T>C (n.1023T>C) c.1317T>C (p.Ser439=) c.250T>C c.993T>C (p.Ser331=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625367A>T | CA418005996 | DOCK7 | c.1023T>A (n.1023T>A) c.1317T>A (p.Ser439=) c.250T>A c.993T>A (p.Ser331=) | |
1 | g.62625368G>A | CA340617196 | DOCK7 | c.1022C>T (n.1022C>T) c.1316C>T (p.Ser439Phe) c.249C>T c.992C>T (p.Ser331Phe) | |
1 | g.62625368G>C | CA340617197 | DOCK7 | c.1022C>G (n.1022C>G) c.1316C>G (p.Ser439Cys) c.249C>G c.992C>G (p.Ser331Cys) | |
1 | g.62625368G>T | CA340617198 | DOCK7 | c.1022C>A (n.1022C>A) c.1316C>A (p.Ser439Tyr) c.249C>A c.992C>A (p.Ser331Tyr) | |
1 | g.62625369A>C | CA340617200 | DOCK7 | c.1021T>G (n.1021T>G) c.1315T>G (p.Ser439Ala) c.248T>G c.991T>G (p.Ser331Ala) | |
1 | g.62625369A>G | CA340617201 | DOCK7 | c.1021T>C (n.1021T>C) c.1315T>C (p.Ser439Pro) c.248T>C c.991T>C (p.Ser331Pro) | |
1 | g.62625369A>T | CA340617199 | DOCK7 | c.1021T>A (n.1021T>A) c.1315T>A (p.Ser439Thr) c.248T>A c.991T>A (p.Ser331Thr) | |
1 | g.62625370A>C | CA340617205 | DOCK7 | c.1020T>G (n.1020T>G) c.1314T>G (p.Asn438Lys) c.247T>G c.990T>G (p.Asn330Lys) | |
1 | g.62625370A>G | CA418005999 | DOCK7 | c.1020T>C (n.1020T>C) c.1314T>C (p.Asn438=) c.247T>C c.990T>C (p.Asn330=) | |
1 | g.62625370A>T | CA340617209 | DOCK7 | c.1020T>A (n.1020T>A) c.1314T>A (p.Asn438Lys) c.247T>A c.990T>A (p.Asn330Lys) | |
1 | g.62625371T>A | CA340617210 | DOCK7 | c.1019A>T (n.1019A>T) c.1313A>T (p.Asn438Ile) c.246A>T c.989A>T (p.Asn330Ile) | |
1 | g.62625371T>C | CA340617211 | DOCK7 | c.1019A>G (n.1019A>G) c.1313A>G (p.Asn438Ser) c.246A>G c.989A>G (p.Asn330Ser) | |
1 | g.62625371T>G | CA340617213 | DOCK7 | c.1019A>C (n.1019A>C) c.1313A>C (p.Asn438Thr) c.246A>C c.989A>C (p.Asn330Thr) | |
1 | g.62625372T>A | CA340617215 | DOCK7 | c.1018A>T (n.1018A>T) c.1312A>T (p.Asn438Tyr) c.245A>T c.988A>T (p.Asn330Tyr) | |
1 | g.62625372T>C | CA340617217 | DOCK7 | c.1018A>G (n.1018A>G) c.1312A>G (p.Asn438Asp) c.245A>G c.988A>G (p.Asn330Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625372T>G | CA340617219 | DOCK7 | c.1018A>C (n.1018A>C) c.1312A>C (p.Asn438His) c.245A>C c.988A>C (p.Asn330His) | ClinVar |
1 | g.62625372T= | CA1171157865 | DOCK7 | c.1018A= (n.1018A=) c.1312A= (p.Asn438=) c.245A= c.988A= (p.Asn330=) | |
1 | g.62625373C>A | CA340617221 | DOCK7 | c.1017G>T (n.1017G>T) c.1311G>T (p.Arg437Ser) c.244G>T c.987G>T (p.Arg329Ser) | gnomAD v4 |
1 | g.62625373C= | CA1171157866 | DOCK7 | c.1017G= (n.1017G=) c.1311G= (p.Arg437=) c.244G= c.987G= (p.Arg329=) | |
1 | g.62625373C>G | CA340617223 | DOCK7 | c.1017G>C (n.1017G>C) c.1311G>C (p.Arg437Ser) c.244G>C c.987G>C (p.Arg329Ser) | |
1 | g.62625373C>T | CA418006001 | DOCK7 | c.1017G>A (n.1017G>A) c.1311G>A (p.Arg437=) c.244G>A c.987G>A (p.Arg329=) | dbSNP gnomAD v4 |
1 | g.62625374C>A | CA340617227 | DOCK7 | c.1016G>T (n.1016G>T) c.1310G>T (p.Arg437Met) c.243G>T c.986G>T (p.Arg329Met) | |
1 | g.62625374C= | CA1171157867 | DOCK7 | c.1016G= (n.1016G=) c.1310G= (p.Arg437=) c.243G= c.986G= (p.Arg329=) | |
1 | g.62625374C>G | CA340617239 | DOCK7 | c.1016G>C (n.1016G>C) c.1310G>C (p.Arg437Thr) c.243G>C c.986G>C (p.Arg329Thr) | |
1 | g.62625374C>T | CA23773395 | DOCK7 | c.1016G>A (n.1016G>A) c.1310G>A (p.Arg437Lys) c.243G>A c.986G>A (p.Arg329Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625375T>A | CA340617248 | DOCK7 | c.1015A>T (n.1015A>T) c.1309A>T (p.Arg437Trp) c.242A>T c.985A>T (p.Arg329Trp) | |
1 | g.62625375T>C | CA340617253 | DOCK7 | c.1015A>G (n.1015A>G) c.1309A>G (p.Arg437Gly) c.242A>G c.985A>G (p.Arg329Gly) | |
1 | g.62625375T>G | CA418006002 | DOCK7 | c.1015A>C (n.1015A>C) c.1309A>C (p.Arg437=) c.242A>C c.985A>C (p.Arg329=) | |
1 | g.62625376C>A | CA340617256 | DOCK7 | c.1014G>T (n.1014G>T) c.1308G>T (p.Arg436Ser) c.241G>T c.984G>T (p.Arg328Ser) | |
1 | g.62625376C>G | CA340617265 | DOCK7 | c.1014G>C (n.1014G>C) c.1308G>C (p.Arg436Ser) c.241G>C c.984G>C (p.Arg328Ser) | |
1 | g.62625376C>T | CA418006003 | DOCK7 | c.1014G>A (n.1014G>A) c.1308G>A (p.Arg436=) c.241G>A c.984G>A (p.Arg328=) | |
1 | g.62625377C>A | CA340617270 | DOCK7 | c.1013G>T (n.1013G>T) c.1307G>T (p.Arg436Met) c.240G>T c.983G>T (p.Arg328Met) | |
1 | g.62625377C>G | CA340617274 | DOCK7 | c.1013G>C (n.1013G>C) c.1307G>C (p.Arg436Thr) c.240G>C c.983G>C (p.Arg328Thr) | |
1 | g.62625377C>T | CA340617276 | DOCK7 | c.1013G>A (n.1013G>A) c.1307G>A (p.Arg436Lys) c.240G>A c.983G>A (p.Arg328Lys) | gnomAD v4 |
1 | g.62625378T>A | CA340617284 | DOCK7 | c.1012A>T (n.1012A>T) c.1306A>T (p.Arg436Trp) c.239A>T c.982A>T (p.Arg328Trp) | |
1 | g.62625378T>C | CA340617286 | DOCK7 | c.1012A>G (n.1012A>G) c.1306A>G (p.Arg436Gly) c.239A>G c.982A>G (p.Arg328Gly) | gnomAD v4 |
1 | g.62625378T>G | CA418006004 | DOCK7 | c.1012A>C (n.1012A>C) c.1306A>C (p.Arg436=) c.239A>C c.982A>C (p.Arg328=) | |
1 | g.62625379C>A | CA340617303 | DOCK7 | c.1011G>T (n.1011G>T) c.1305G>T (p.Glu435Asp) c.238G>T c.981G>T (p.Glu327Asp) | |
1 | g.62625379C>G | CA340617320 | DOCK7 | c.1011G>C (n.1011G>C) c.1305G>C (p.Glu435Asp) c.238G>C c.981G>C (p.Glu327Asp) | |
1 | g.62625379C>T | CA418006007 | DOCK7 | c.1011G>A (n.1011G>A) c.1305G>A (p.Glu435=) c.238G>A c.981G>A (p.Glu327=) | |
1 | g.62625380T>A | CA340617323 | DOCK7 | c.1010A>T (n.1010A>T) c.1304A>T (p.Glu435Val) c.237A>T c.980A>T (p.Glu327Val) | |
1 | g.62625380T>C | CA340617331 | DOCK7 | c.1010A>G (n.1010A>G) c.1304A>G (p.Glu435Gly) c.237A>G c.980A>G (p.Glu327Gly) | |
1 | g.62625380T>G | CA340617337 | DOCK7 | c.1010A>C (n.1010A>C) c.1304A>C (p.Glu435Ala) c.237A>C c.980A>C (p.Glu327Ala) | |
1 | g.62625381C>A | CA340617352 | DOCK7 | c.1009G>T (n.1009G>T) c.1303G>T (p.Glu435Ter) c.236G>T c.979G>T (p.Glu327Ter) | |
1 | g.62625381C>G | CA340617346 | DOCK7 | c.1009G>C (n.1009G>C) c.1303G>C (p.Glu435Gln) c.236G>C c.979G>C (p.Glu327Gln) | |
1 | g.62625381C>T | CA340617343 | DOCK7 | c.1009G>A (n.1009G>A) c.1303G>A (p.Glu435Lys) c.236G>A c.979G>A (p.Glu327Lys) | |
1 | g.62625382T>A | CA418006011 | DOCK7 | c.1008A>T (n.1008A>T) c.1302A>T (p.Ser434=) c.235A>T c.978A>T (p.Ser326=) | |
1 | g.62625382T>C | CA418006012 | DOCK7 | c.1008A>G (n.1008A>G) c.1302A>G (p.Ser434=) c.235A>G c.978A>G (p.Ser326=) | |
1 | g.62625382T>G | CA418006010 | DOCK7 | c.1008A>C (n.1008A>C) c.1302A>C (p.Ser434=) c.235A>C c.978A>C (p.Ser326=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625382T= | CA1171157868 | DOCK7 | c.1008A= (n.1008A=) c.1302A= (p.Ser434=) c.235A= c.978A= (p.Ser326=) | |
1 | g.62625383G>A | CA340617355 | DOCK7 | c.1007C>T (n.1007C>T) c.1301C>T (p.Ser434Leu) c.234C>T c.977C>T (p.Ser326Leu) | |
1 | g.62625383G>C | CA340617379 | DOCK7 | c.1007C>G (n.1007C>G) c.1301C>G (p.Ser434Ter) c.234C>G c.977C>G (p.Ser326Ter) | COSMIC |
1 | g.62625383G>T | CA340617382 | DOCK7 | c.1007C>A (n.1007C>A) c.1301C>A (p.Ser434Ter) c.234C>A c.977C>A (p.Ser326Ter) | |
1 | g.62625384A= | CA1171157869 | DOCK7 | c.1006T= (n.1006T=) c.1300T= (p.Ser434=) c.233T= c.976T= (p.Ser326=) | |
1 | g.62625384A>C | CA886979 | DOCK7 | c.1006T>G (n.1006T>G) c.1300T>G (p.Ser434Ala) c.233T>G c.976T>G (p.Ser326Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625384A>G | CA340617385 | DOCK7 | c.1006T>C (n.1006T>C) c.1300T>C (p.Ser434Pro) c.233T>C c.976T>C (p.Ser326Pro) | |
1 | g.62625384A>T | CA340617388 | DOCK7 | c.1006T>A (n.1006T>A) c.1300T>A (p.Ser434Thr) c.233T>A c.976T>A (p.Ser326Thr) | |
1 | g.62625385C>A | CA340617399 | DOCK7 | c.1005G>T (n.1005G>T) c.1299G>T (p.Trp433Cys) c.232G>T c.975G>T (p.Trp325Cys) | |
1 | g.62625385C>G | CA340617395 | DOCK7 | c.1005G>C (n.1005G>C) c.1299G>C (p.Trp433Cys) c.232G>C c.975G>C (p.Trp325Cys) | gnomAD v4 |
1 | g.62625385C>T | CA340617392 | DOCK7 | c.1005G>A (n.1005G>A) c.1299G>A (p.Trp433Ter) c.232G>A c.975G>A (p.Trp325Ter) | |
1 | g.62625386C>A | CA340617403 | DOCK7 | c.1004G>T (n.1004G>T) c.1298G>T (p.Trp433Leu) c.231G>T c.974G>T (p.Trp325Leu) | |
1 | g.62625386C>G | CA340617409 | DOCK7 | c.1004G>C (n.1004G>C) c.1298G>C (p.Trp433Ser) c.231G>C c.974G>C (p.Trp325Ser) | |
1 | g.62625386C>T | CA340617411 | DOCK7 | c.1004G>A (n.1004G>A) c.1298G>A (p.Trp433Ter) c.231G>A c.974G>A (p.Trp325Ter) | gnomAD v4 |
1 | g.62625387A>C | CA340617420 | DOCK7 | c.1003T>G (n.1003T>G) c.1297T>G (p.Trp433Gly) c.230T>G c.973T>G (p.Trp325Gly) | |
1 | g.62625387A>G | CA340617425 | DOCK7 | c.1003T>C (n.1003T>C) c.1297T>C (p.Trp433Arg) c.230T>C c.973T>C (p.Trp325Arg) | |
1 | g.62625387A>T | CA340617429 | DOCK7 | c.1003T>A (n.1003T>A) c.1297T>A (p.Trp433Arg) c.230T>A c.973T>A (p.Trp325Arg) | |
1 | g.62625388A>C | CA418006016 | DOCK7 | c.1002T>G (n.1002T>G) c.1296T>G (p.Ser432=) c.229T>G c.972T>G (p.Ser324=) | |
1 | g.62625388A>G | CA418006017 | DOCK7 | c.1002T>C (n.1002T>C) c.1296T>C (p.Ser432=) c.229T>C c.972T>C (p.Ser324=) | gnomAD v4 |
1 | g.62625388A>T | CA418006018 | DOCK7 | c.1002T>A (n.1002T>A) c.1296T>A (p.Ser432=) c.229T>A c.972T>A (p.Ser324=) | |
1 | g.62625389G>A | CA340617432 | DOCK7 | c.1001C>T (n.1001C>T) c.1295C>T (p.Ser432Phe) c.228C>T c.971C>T (p.Ser324Phe) | |
1 | g.62625389G>C | CA340617442 | DOCK7 | c.1001C>G (n.1001C>G) c.1295C>G (p.Ser432Cys) c.228C>G c.971C>G (p.Ser324Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625389G= | CA1171157870 | DOCK7 | c.1001C= (n.1001C=) c.1295C= (p.Ser432=) c.228C= c.971C= (p.Ser324=) | |
1 | g.62625389G>T | CA340617438 | DOCK7 | c.1001C>A (n.1001C>A) c.1295C>A (p.Ser432Tyr) c.228C>A c.971C>A (p.Ser324Tyr) | COSMIC COSMIC COSMIC |
1 | g.62625390A>C | CA340617445 | DOCK7 | c.1000T>G (n.1000T>G) c.1294T>G (p.Ser432Ala) c.227T>G c.970T>G (p.Ser324Ala) | |
1 | g.62625390A>G | CA340617455 | DOCK7 | c.1000T>C (n.1000T>C) c.1294T>C (p.Ser432Pro) c.227T>C c.970T>C (p.Ser324Pro) | COSMIC COSMIC COSMIC |
1 | g.62625390A>T | CA340617457 | DOCK7 | c.1000T>A (n.1000T>A) c.1294T>A (p.Ser432Thr) c.227T>A c.970T>A (p.Ser324Thr) | |
1 | g.62625391C>A | CA886980 | DOCK7 | c.999G>T (n.999G>T) c.1293G>T (p.Gly431=) c.226G>T c.969G>T (p.Gly323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625391C= | CA1171157871 | DOCK7 | c.999G= (n.999G=) c.1293G= (p.Gly431=) c.226G= c.969G= (p.Gly323=) | |
1 | g.62625391C>G | CA418006021 | DOCK7 | c.999G>C (n.999G>C) c.1293G>C (p.Gly431=) c.226G>C c.969G>C (p.Gly323=) | |
1 | g.62625391C>T | CA418006022 | DOCK7 | c.999G>A (n.999G>A) c.1293G>A (p.Gly431=) c.226G>A c.969G>A (p.Gly323=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625392C>A | CA340617460 | DOCK7 | c.998G>T (n.998G>T) c.1292G>T (p.Gly431Val) c.225G>T c.968G>T (p.Gly323Val) | gnomAD v4 |
1 | g.62625392C= | CA1143505649 | DOCK7 | c.998G= (n.998G=) c.1292G= (p.Gly431=) c.225G= c.968G= (p.Gly323=) | |
1 | g.62625392C>G | CA886981 | DOCK7 | c.998G>C (n.998G>C) c.1292G>C (p.Gly431Ala) c.225G>C c.968G>C (p.Gly323Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625392C>T | CA340617479 | DOCK7 | c.998G>A (n.998G>A) c.1292G>A (p.Gly431Glu) c.225G>A c.968G>A (p.Gly323Glu) | dbSNP gnomAD v4 |
1 | g.62625393C>A | CA340617482 | DOCK7 | c.997G>T (n.997G>T) c.1291G>T (p.Gly431Trp) c.224G>T c.967G>T (p.Gly323Trp) | |
1 | g.62625393C= | CA1171157872 | DOCK7 | c.997G= (n.997G=) c.1291G= (p.Gly431=) c.224G= c.967G= (p.Gly323=) | |
1 | g.62625393C>G | CA340617486 | DOCK7 | c.997G>C (n.997G>C) c.1291G>C (p.Gly431Arg) c.224G>C c.967G>C (p.Gly323Arg) | dbSNP |
1 | g.62625393C>T | CA340617493 | DOCK7 | c.997G>A (n.997G>A) c.1291G>A (p.Gly431Arg) c.224G>A c.967G>A (p.Gly323Arg) | |
1 | g.62625394T>A | CA340617496 | DOCK7 | c.996A>T (n.996A>T) c.1290A>T (p.Lys430Asn) c.223A>T c.966A>T (p.Lys322Asn) | |
1 | g.62625394T>C | CA418006024 | DOCK7 | c.996A>G (n.996A>G) c.1290A>G (p.Lys430=) c.223A>G c.966A>G (p.Lys322=) | gnomAD v4 |
1 | g.62625394T>G | CA340617510 | DOCK7 | c.996A>C (n.996A>C) c.1290A>C (p.Lys430Asn) c.223A>C c.966A>C (p.Lys322Asn) | |
1 | g.62625397del | CA2645999428 | DOCK7 | c.996del (n.996del) c.1290del (p.Ser432LeufsTer28) c.223del c.966del (p.Ser324LeufsTer28) | ClinVar gnomAD v4 |
1 | g.62625395T>A | CA340617515 | DOCK7 | c.995A>T (n.995A>T) c.1289A>T (p.Lys430Ile) c.222A>T c.965A>T (p.Lys322Ile) | gnomAD v4 |
1 | g.62625395T>C | CA340617517 | DOCK7 | c.995A>G (n.995A>G) c.1289A>G (p.Lys430Arg) c.222A>G c.965A>G (p.Lys322Arg) | |
1 | g.62625395T>G | CA340617516 | DOCK7 | c.995A>C (n.995A>C) c.1289A>C (p.Lys430Thr) c.222A>C c.965A>C (p.Lys322Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625395T= | CA1171157873 | DOCK7 | c.995A= (n.995A=) c.1289A= (p.Lys430=) c.222A= c.965A= (p.Lys322=) | |
1 | g.62625396T>A | CA340617518 | DOCK7 | c.994A>T (n.994A>T) c.1288A>T (p.Lys430Ter) c.221A>T c.964A>T (p.Lys322Ter) | |
1 | g.62625396T>C | CA340617519 | DOCK7 | c.994A>G (n.994A>G) c.1288A>G (p.Lys430Glu) c.221A>G c.964A>G (p.Lys322Glu) | |
1 | g.62625396T>G | CA340617520 | DOCK7 | c.994A>C (n.994A>C) c.1288A>C (p.Lys430Gln) c.221A>C c.964A>C (p.Lys322Gln) | |
1 | g.62625397T>A | CA418006025 | DOCK7 | c.993A>T (n.993A>T) c.1287A>T (p.Arg429=) c.220A>T c.963A>T (p.Arg321=) | gnomAD v4 |
1 | g.62625397T>C | CA418006026 | DOCK7 | c.993A>G (n.993A>G) c.1287A>G (p.Arg429=) c.220A>G c.963A>G (p.Arg321=) | |
1 | g.62625397T>G | CA418006027 | DOCK7 | c.993A>C (n.993A>C) c.1287A>C (p.Arg429=) c.220A>C c.963A>C (p.Arg321=) | gnomAD v4 |
1 | g.62625398C>A | CA340617523 | DOCK7 | c.992G>T (n.992G>T) c.1286G>T (p.Arg429Leu) c.219G>T c.962G>T (p.Arg321Leu) | |
1 | g.62625398C= | CA1171157874 | DOCK7 | c.992G= (n.992G=) c.1286G= (p.Arg429=) c.219G= c.962G= (p.Arg321=) | |
1 | g.62625398C>G | CA340617539 | DOCK7 | c.992G>C (n.992G>C) c.1286G>C (p.Arg429Pro) c.219G>C c.962G>C (p.Arg321Pro) | |
1 | g.62625398C>T | CA886982 | DOCK7 | c.992G>A (n.992G>A) c.1286G>A (p.Arg429Gln) c.219G>A c.962G>A (p.Arg321Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625399G>A | CA16603223 | DOCK7 | c.991C>T (n.991C>T) c.1285C>T (p.Arg429Ter) c.218C>T c.961C>T (p.Arg321Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.62625399G>C | CA340617563 | DOCK7 | c.991C>G (n.991C>G) c.1285C>G (p.Arg429Gly) c.218C>G c.961C>G (p.Arg321Gly) | |
1 | g.62625399G= | CA1171157875 | DOCK7 | c.991C= (n.991C=) c.1285C= (p.Arg429=) c.218C= c.961C= (p.Arg321=) | |
1 | g.62625399G>T | CA418006031 | DOCK7 | c.991C>A (n.991C>A) c.1285C>A (p.Arg429=) c.218C>A c.961C>A (p.Arg321=) | ClinVar dbSNP gnomAD v4 |
1 | g.62625400T>A | CA340617568 | DOCK7 | c.990A>T (n.990A>T) c.1284A>T (p.Glu428Asp) c.217A>T c.960A>T (p.Glu320Asp) | |
1 | g.62625400T>C | CA418006032 | DOCK7 | c.990A>G (n.990A>G) c.1284A>G (p.Glu428=) c.217A>G c.960A>G (p.Glu320=) | gnomAD v4 |
1 | g.62625400T>G | CA340617571 | DOCK7 | c.990A>C (n.990A>C) c.1284A>C (p.Glu428Asp) c.217A>C c.960A>C (p.Glu320Asp) |