Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6300803_6300813del | CA2573052345 | WFS1 | c.1044_1054del (p.Thr349LeufsTer?) c.985_995del c.1008_1018del (p.Thr337LeufsTer?) c.759_769del (p.Thr254LeufsTer?) c.667_677del (p.His223SerfsTer19) c.641_651del n.1193_1203del c.1017_1027del (p.Thr340LeufsTer?) | ClinVar dbSNP |
4 | g.6300810G>A | CA323935 | WFS1 | c.1051G>A (p.Asp351Asn) c.992G>A c.1015G>A (p.Asp339Asn) c.766G>A (p.Asp256Asn) c.674G>A (p.Arg225Gln) c.648G>A n.1200G>A c.1024G>A (p.Asp342Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6300810G>C | CA356174073 | WFS1 | c.1051G>C (p.Asp351His) c.992G>C c.1015G>C (p.Asp339His) c.766G>C (p.Asp256His) c.674G>C (p.Arg225Pro) c.648G>C n.1200G>C c.1024G>C (p.Asp342His) | gnomAD v4 |
4 | g.6300810G= | CA1435772206 | WFS1 | c.1051G= (p.Asp351=) c.992G= c.1015G= (p.Asp339=) c.766G= (p.Asp256=) c.674G= (p.Arg225=) c.648G= n.1200G= c.1024G= (p.Asp342=) | |
4 | g.6300810G>T | CA356174072 | WFS1 | c.1051G>T (p.Asp351Tyr) c.992G>T c.1015G>T (p.Asp339Tyr) c.766G>T (p.Asp256Tyr) c.674G>T (p.Arg225Leu) c.648G>T n.1200G>T c.1024G>T (p.Asp342Tyr) | gnomAD v4 |
4 | g.6300810dup | CA2760284639 | WFS1 | c.1051dup (p.Asp351GlyfsTer?) c.992dup c.1015dup (p.Asp339GlyfsTer?) c.766dup (p.Asp256GlyfsTer?) c.674dup (p.Leu226ThrfsTer20) c.648dup n.1200dup c.1024dup (p.Asp342GlyfsTer?) | |
4 | g.6300811A= | CA1435772210 | WFS1 | c.1052A= (p.Asp351=) c.993A= c.1016A= (p.Asp339=) c.767A= (p.Asp256=) c.675A= (p.Arg225=) c.649A= n.1201A= c.1025A= (p.Asp342=) | |
4 | g.6300811A>C | CA356174074 | WFS1 | c.1052A>C (p.Asp351Ala) c.993A>C c.1016A>C (p.Asp339Ala) c.767A>C (p.Asp256Ala) c.675A>C (p.Arg225=) c.649A>C n.1201A>C c.1025A>C (p.Asp342Ala) | |
4 | g.6300811A>G | CA356174075 | WFS1 | c.1052A>G (p.Asp351Gly) c.993A>G c.1016A>G (p.Asp339Gly) c.767A>G (p.Asp256Gly) c.675A>G (p.Arg225=) c.649A>G n.1201A>G c.1025A>G (p.Asp342Gly) | ClinVar dbSNP |
4 | g.6300811A>T | CA356174076 | WFS1 | c.1052A>T (p.Asp351Val) c.993A>T c.1016A>T (p.Asp339Val) c.767A>T (p.Asp256Val) c.675A>T (p.Arg225=) c.649A>T n.1201A>T c.1025A>T (p.Asp342Val) | |
4 | g.6300811_6300814delinsACTT | CA1435772209 | WFS1 | c.1052_1055delinsACTT (p.Asp351=) c.993_996delinsACTT c.1016_1019delinsACTT (p.Asp339=) c.767_770delinsACTT (p.Asp256=) c.675_678delinsACTT (p.Arg225=) c.649_652delinsACTT n.1201_1204delinsACTT c.1025_1028delinsACTT (p.Asp342=) | |
4 | g.6300812C>A | CA356174077 | WFS1 | c.1053C>A (p.Asp351Glu) c.994C>A c.1017C>A (p.Asp339Glu) c.768C>A (p.Asp256Glu) c.676C>A (p.Leu226Ile) c.650C>A n.1202C>A c.1026C>A (p.Asp342Glu) | |
4 | g.6300812C= | CA1435772212 | WFS1 | c.1053C= (p.Asp351=) c.994C= c.1017C= (p.Asp339=) c.768C= (p.Asp256=) c.676C= (p.Leu226=) c.650C= n.1202C= c.1026C= (p.Asp342=) | |
4 | g.6300812C>G | CA356174078 | WFS1 | c.1053C>G (p.Asp351Glu) c.994C>G c.1017C>G (p.Asp339Glu) c.768C>G (p.Asp256Glu) c.676C>G (p.Leu226Val) c.650C>G n.1202C>G c.1026C>G (p.Asp342Glu) | ClinVar dbSNP gnomAD v4 |
4 | g.6300812C>T | CA438367882 | WFS1 | c.1053C>T (p.Asp351=) c.994C>T c.1017C>T (p.Asp339=) c.768C>T (p.Asp256=) c.676C>T (p.Leu226Phe) c.650C>T n.1202C>T c.1026C>T (p.Asp342=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300816_6300818del | CA2839193 | WFS1 | c.1057_1059del (p.Phe353del) c.998_1000del c.1021_1023del (p.Phe341del) c.772_774del (p.Phe258del) c.680_682del (p.Leu227del) c.654_656del n.1206_1208del c.1030_1032del (p.Phe344del) | dbSNP ExAC gnomAD v4 |
4 | g.6300819_6300827dup | CA91796222 | WFS1 | c.1060_1068dup (p.Phe356_Ile357insAlaPhePhe) c.1001_1009dup c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe) c.775_783dup (p.Phe261_Ile262insAlaPhePhe) c.683_691dup (p.Leu230_His231insArgLeuLeu) c.657_665dup n.1209_1217dup c.1033_1041dup (p.Phe347_Ile348insAlaPhePhe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300819_6300827del | CA2578035747 | WFS1 | c.1060_1068del (p.Ala354_Phe356del) c.1001_1009del c.1024_1032del (p.Ala342_Phe344del) c.775_783del (p.Ala259_Phe261del) c.683_691del (p.Arg228_Leu230del) c.657_665del n.1209_1217del c.1033_1041del (p.Ala345_Phe347del) | ClinVar gnomAD v4 |
4 | g.6300816_6300827del | CA2669843414 | WFS1 | c.1057_1068del (p.Phe353_Phe356del) c.998_1009del c.1021_1032del (p.Phe341_Phe344del) c.772_783del (p.Phe258_Phe261del) c.680_691del (p.Leu227_Leu230del) c.654_665del n.1206_1217del c.1030_1041del (p.Phe344_Phe347del) | gnomAD v4 |
4 | g.6300813T>A | CA356174079 | WFS1 | c.1054T>A (p.Phe352Ile) c.995T>A c.1018T>A (p.Phe340Ile) c.769T>A (p.Phe257Ile) c.677T>A (p.Leu226His) c.651T>A n.1203T>A c.1027T>A (p.Phe343Ile) | |
4 | g.6300813T>C | CA356174081 | WFS1 | c.1054T>C (p.Phe352Leu) c.995T>C c.1018T>C (p.Phe340Leu) c.769T>C (p.Phe257Leu) c.677T>C (p.Leu226Pro) c.651T>C n.1203T>C c.1027T>C (p.Phe343Leu) | |
4 | g.6300813T>G | CA356174080 | WFS1 | c.1054T>G (p.Phe352Val) c.995T>G c.1018T>G (p.Phe340Val) c.769T>G (p.Phe257Val) c.677T>G (p.Leu226Arg) c.651T>G n.1203T>G c.1027T>G (p.Phe343Val) | gnomAD v4 |
4 | g.6300814T>A | CA356174082 | WFS1 | c.1055T>A (p.Phe352Tyr) c.996T>A c.1019T>A (p.Phe340Tyr) c.770T>A (p.Phe257Tyr) c.678T>A (p.Leu226=) c.652T>A n.1204T>A c.1028T>A (p.Phe343Tyr) | |
4 | g.6300814T>C | CA356174084 | WFS1 | c.1055T>C (p.Phe352Ser) c.996T>C c.1019T>C (p.Phe340Ser) c.770T>C (p.Phe257Ser) c.678T>C (p.Leu226=) c.652T>C n.1204T>C c.1028T>C (p.Phe343Ser) | |
4 | g.6300814T>G | CA356174083 | WFS1 | c.1055T>G (p.Phe352Cys) c.996T>G c.1019T>G (p.Phe340Cys) c.770T>G (p.Phe257Cys) c.678T>G (p.Leu226=) c.652T>G n.1204T>G c.1028T>G (p.Phe343Cys) | |
4 | g.6300815C>A | CA356174085 | WFS1 | c.1056C>A (p.Phe352Leu) c.997C>A c.1020C>A (p.Phe340Leu) c.771C>A (p.Phe257Leu) c.679C>A (p.Leu227Ile) c.653C>A n.1205C>A c.1029C>A (p.Phe343Leu) | gnomAD v4 COSMIC |
4 | g.6300815C= | CA1435772215 | WFS1 | c.1056C= (p.Phe352=) c.997C= c.1020C= (p.Phe340=) c.771C= (p.Phe257=) c.679C= (p.Leu227=) c.653C= n.1205C= c.1029C= (p.Phe343=) | |
4 | g.6300815C>G | CA10576637 | WFS1 | c.1056C>G (p.Phe352Leu) c.997C>G c.1020C>G (p.Phe340Leu) c.771C>G (p.Phe257Leu) c.679C>G (p.Leu227Val) c.653C>G n.1205C>G c.1029C>G (p.Phe343Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.6300815C>T | CA438367884 | WFS1 | c.1056C>T (p.Phe352=) c.997C>T c.1020C>T (p.Phe340=) c.771C>T (p.Phe257=) c.679C>T (p.Leu227Phe) c.653C>T n.1205C>T c.1029C>T (p.Phe343=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300816T>A | CA356174086 | WFS1 | c.1057T>A (p.Phe353Ile) c.998T>A c.1021T>A (p.Phe341Ile) c.772T>A (p.Phe258Ile) c.680T>A (p.Leu227His) c.654T>A n.1206T>A c.1030T>A (p.Phe344Ile) | |
4 | g.6300816T>C | CA356174087 | WFS1 | c.1057T>C (p.Phe353Leu) c.998T>C c.1021T>C (p.Phe341Leu) c.772T>C (p.Phe258Leu) c.680T>C (p.Leu227Pro) c.654T>C n.1206T>C c.1030T>C (p.Phe344Leu) | |
4 | g.6300816T>G | CA356174088 | WFS1 | c.1057T>G (p.Phe353Val) c.998T>G c.1021T>G (p.Phe341Val) c.772T>G (p.Phe258Val) c.680T>G (p.Leu227Arg) c.654T>G n.1206T>G c.1030T>G (p.Phe344Val) | |
4 | g.6300817T>A | CA356174089 | WFS1 | c.1058T>A (p.Phe353Tyr) c.999T>A c.1022T>A (p.Phe341Tyr) c.773T>A (p.Phe258Tyr) c.681T>A (p.Leu227=) c.655T>A n.1207T>A c.1031T>A (p.Phe344Tyr) | |
4 | g.6300817T>C | CA356174090 | WFS1 | c.1058T>C (p.Phe353Ser) c.999T>C c.1022T>C (p.Phe341Ser) c.773T>C (p.Phe258Ser) c.681T>C (p.Leu227=) c.655T>C n.1207T>C c.1031T>C (p.Phe344Ser) | |
4 | g.6300817T>G | CA356174091 | WFS1 | c.1058T>G (p.Phe353Cys) c.999T>G c.1022T>G (p.Phe341Cys) c.773T>G (p.Phe258Cys) c.681T>G (p.Leu227=) c.655T>G n.1207T>G c.1031T>G (p.Phe344Cys) | |
4 | g.6300818C>A | CA356174092 | WFS1 | c.1059C>A (p.Phe353Leu) c.1000C>A c.1023C>A (p.Phe341Leu) c.774C>A (p.Phe258Leu) c.682C>A (p.Arg228Ser) c.656C>A n.1208C>A c.1032C>A (p.Phe344Leu) | |
4 | g.6300818C= | CA1435772219 | WFS1 | c.1059C= (p.Phe353=) c.1000C= c.1023C= (p.Phe341=) c.774C= (p.Phe258=) c.682C= (p.Arg228=) c.656C= n.1208C= c.1032C= (p.Phe344=) | |
4 | g.6300818C>G | CA356174093 | WFS1 | c.1059C>G (p.Phe353Leu) c.1000C>G c.1023C>G (p.Phe341Leu) c.774C>G (p.Phe258Leu) c.682C>G (p.Arg228Gly) c.656C>G n.1208C>G c.1032C>G (p.Phe344Leu) | gnomAD v4 |
4 | g.6300818C>T | CA282566 | WFS1 | c.1059C>T (p.Phe353=) c.1000C>T c.1023C>T (p.Phe341=) c.774C>T (p.Phe258=) c.682C>T (p.Arg228Cys) c.656C>T n.1208C>T c.1032C>T (p.Phe344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300819G>A | CA231652 | WFS1 | c.1060G>A (p.Ala354Thr) c.1001G>A c.1024G>A (p.Ala342Thr) c.775G>A (p.Ala259Thr) c.683G>A (p.Arg228His) c.657G>A n.1209G>A c.1033G>A (p.Ala345Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300819G>C | CA2839194 | WFS1 | c.1060G>C (p.Ala354Pro) c.1001G>C c.1024G>C (p.Ala342Pro) c.775G>C (p.Ala259Pro) c.683G>C (p.Arg228Pro) c.657G>C n.1209G>C c.1033G>C (p.Ala345Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300819G= | CA1435772221 | WFS1 | c.1060G= (p.Ala354=) c.1001G= c.1024G= (p.Ala342=) c.775G= (p.Ala259=) c.683G= (p.Arg228=) c.657G= n.1209G= c.1033G= (p.Ala345=) | |
4 | g.6300819G>T | CA356174094 | WFS1 | c.1060G>T (p.Ala354Ser) c.1001G>T c.1024G>T (p.Ala342Ser) c.775G>T (p.Ala259Ser) c.683G>T (p.Arg228Leu) c.657G>T n.1209G>T c.1033G>T (p.Ala345Ser) | dbSNP gnomAD v4 |
4 | g.6300820C>A | CA356174095 | WFS1 | c.1061C>A (p.Ala354Asp) c.1002C>A c.1025C>A (p.Ala342Asp) c.776C>A (p.Ala259Asp) c.684C>A (p.Arg228=) c.658C>A n.1210C>A c.1034C>A (p.Ala345Asp) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300820C= | CA1435772224 | WFS1 | c.1061C= (p.Ala354=) c.1002C= c.1025C= (p.Ala342=) c.776C= (p.Ala259=) c.684C= (p.Arg228=) c.658C= n.1210C= c.1034C= (p.Ala345=) | |
4 | g.6300820C>G | CA356174096 | WFS1 | c.1061C>G (p.Ala354Gly) c.1002C>G c.1025C>G (p.Ala342Gly) c.776C>G (p.Ala259Gly) c.684C>G (p.Arg228=) c.658C>G n.1210C>G c.1034C>G (p.Ala345Gly) | |
4 | g.6300820C>T | CA356174097 | WFS1 | c.1061C>T (p.Ala354Val) c.1002C>T c.1025C>T (p.Ala342Val) c.776C>T (p.Ala259Val) c.684C>T (p.Arg228=) c.658C>T n.1210C>T c.1034C>T (p.Ala345Val) | ClinVar dbSNP gnomAD v4 |
4 | g.6300820_6300823delinsCCTT | CA1435772225 | WFS1 | c.1061_1064delinsCCTT (p.Ala354=) c.1002_1005delinsCCTT c.1025_1028delinsCCTT (p.Ala342=) c.776_779delinsCCTT (p.Ala259=) c.684_687delinsCCTT (p.Arg228=) c.658_661delinsCCTT n.1210_1213delinsCCTT c.1034_1037delinsCCTT (p.Ala345=) | |
4 | g.6300821C>A | CA438367885 | WFS1 | c.1062C>A (p.Ala354=) c.1003C>A c.1026C>A (p.Ala342=) c.777C>A (p.Ala259=) c.685C>A (p.Leu229Ile) c.659C>A n.1211C>A c.1035C>A (p.Ala345=) | |
4 | g.6300821C= | CA1435772229 | WFS1 | c.1062C= (p.Ala354=) c.1003C= c.1026C= (p.Ala342=) c.777C= (p.Ala259=) c.685C= (p.Leu229=) c.659C= n.1211C= c.1035C= (p.Ala345=) | |
4 | g.6300821C>G | CA438367886 | WFS1 | c.1062C>G (p.Ala354=) c.1003C>G c.1026C>G (p.Ala342=) c.777C>G (p.Ala259=) c.685C>G (p.Leu229Val) c.659C>G n.1211C>G c.1035C>G (p.Ala345=) | |
4 | g.6300821C>T | CA2839195 | WFS1 | c.1062C>T (p.Ala354=) c.1003C>T c.1026C>T (p.Ala342=) c.777C>T (p.Ala259=) c.685C>T (p.Leu229Phe) c.659C>T n.1211C>T c.1035C>T (p.Ala345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300821_6300822delinsCT | CA1435772231 | WFS1 | c.1062_1063delinsCT (p.Ala354=) c.1003_1004delinsCT c.1026_1027delinsCT (p.Ala342=) c.777_778delinsCT (p.Ala259=) c.685_686delinsCT (p.Leu229=) c.659_660delinsCT n.1211_1212delinsCT c.1035_1036delinsCT (p.Ala345=) | |
4 | g.6300825_6300827del | CA1435772228 | WFS1 | c.1066_1068del (p.Phe356del) c.1007_1009del c.1030_1032del (p.Phe344del) c.781_783del (p.Phe261del) c.689_691del (p.Leu230del) c.663_665del n.1215_1217del c.1039_1041del (p.Phe347del) | dbSNP |
4 | g.6300821_6300835delinsCTTCTTCATCCCGCT | CA1435772232 | WFS1 | c.1062_1076delinsCTTCTTCATCCCGCT (p.Ala354=) c.1003_1017delinsCTTCTTCATCCCGCT c.1026_1040delinsCTTCTTCATCCCGCT (p.Ala342=) c.777_791delinsCTTCTTCATCCCGCT (p.Ala259=) c.685_699delinsCTTCTTCATCCCGCT (p.Leu229=) c.659_673delinsCTTCTTCATCCCGCT n.1211_1225delinsCTTCTTCATCCCGCT c.1035_1049delinsCTTCTTCATCCCGCT (p.Ala345=) | |
4 | g.6300821_6300822insACT | CA2760284647 | WFS1 | c.1062_1063insACT (p.Ala354_Phe355insThr) c.1003_1004insACT c.1026_1027insACT (p.Ala342_Phe343insThr) c.777_778insACT (p.Ala259_Phe260insThr) c.685_686insACT (p.Leu229delinsHisPhe) c.659_660insACT n.1211_1212insACT c.1035_1036insACT (p.Ala345_Phe346insThr) | |
4 | g.6300822T>A | CA356174098 | WFS1 | c.1063T>A (p.Phe355Ile) c.1004T>A c.1027T>A (p.Phe343Ile) c.778T>A (p.Phe260Ile) c.686T>A (p.Leu229His) c.660T>A n.1212T>A c.1036T>A (p.Phe346Ile) | |
4 | g.6300822T>C | CA356174099 | WFS1 | c.1063T>C (p.Phe355Leu) c.1004T>C c.1027T>C (p.Phe343Leu) c.778T>C (p.Phe260Leu) c.686T>C (p.Leu229Pro) c.660T>C n.1212T>C c.1036T>C (p.Phe346Leu) | gnomAD v4 |
4 | g.6300822T>G | CA356174100 | WFS1 | c.1063T>G (p.Phe355Val) c.1004T>G c.1027T>G (p.Phe343Val) c.778T>G (p.Phe260Val) c.686T>G (p.Leu229Arg) c.660T>G n.1212T>G c.1036T>G (p.Phe346Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300822T= | CA1435772234 | WFS1 | c.1063T= (p.Phe355=) c.1004T= c.1027T= (p.Phe343=) c.778T= (p.Phe260=) c.686T= (p.Leu229=) c.660T= n.1212T= c.1036T= (p.Phe346=) | |
4 | g.6300823del | CA549707894 | WFS1 | c.1064del (p.Phe355SerfsTer16) c.1005del c.1028del (p.Phe343SerfsTer16) c.779del (p.Phe260SerfsTer16) c.687del (p.Leu230PhefsTer?) c.661del n.1213del c.1037del (p.Phe346SerfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300822_6300835del | CA1435772235 | WFS1 | c.1063_1076del (p.Phe355GlyfsTer?) c.1004_1017del c.1027_1040del (p.Phe343GlyfsTer?) c.778_791del (p.Phe260GlyfsTer?) c.686_699del (p.Leu229ArgfsTer12) c.660_673del n.1212_1225del c.1036_1049del (p.Phe346GlyfsTer?) | dbSNP |
4 | g.6300823T>A | CA356174101 | WFS1 | c.1064T>A (p.Phe355Tyr) c.1005T>A c.1028T>A (p.Phe343Tyr) c.779T>A (p.Phe260Tyr) c.687T>A (p.Leu229=) c.661T>A n.1213T>A c.1037T>A (p.Phe346Tyr) | dbSNP gnomAD v4 |
4 | g.6300823T>C | CA356174102 | WFS1 | c.1064T>C (p.Phe355Ser) c.1005T>C c.1028T>C (p.Phe343Ser) c.779T>C (p.Phe260Ser) c.687T>C (p.Leu229=) c.661T>C n.1213T>C c.1037T>C (p.Phe346Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300823T>G | CA356174103 | WFS1 | c.1064T>G (p.Phe355Cys) c.1005T>G c.1028T>G (p.Phe343Cys) c.779T>G (p.Phe260Cys) c.687T>G (p.Leu229=) c.661T>G n.1213T>G c.1037T>G (p.Phe346Cys) | |
4 | g.6300823T= | CA1435772237 | WFS1 | c.1064T= (p.Phe355=) c.1005T= c.1028T= (p.Phe343=) c.779T= (p.Phe260=) c.687T= (p.Leu229=) c.661T= n.1213T= c.1037T= (p.Phe346=) | |
4 | g.6300824C>A | CA356174104 | WFS1 | c.1065C>A (p.Phe355Leu) c.1006C>A c.1029C>A (p.Phe343Leu) c.780C>A (p.Phe260Leu) c.688C>A (p.Leu230Ile) c.662C>A n.1214C>A c.1038C>A (p.Phe346Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300824C= | CA1435772239 | WFS1 | c.1065C= (p.Phe355=) c.1006C= c.1029C= (p.Phe343=) c.780C= (p.Phe260=) c.688C= (p.Leu230=) c.662C= n.1214C= c.1038C= (p.Phe346=) | |
4 | g.6300824C>G | CA356174105 | WFS1 | c.1065C>G (p.Phe355Leu) c.1006C>G c.1029C>G (p.Phe343Leu) c.780C>G (p.Phe260Leu) c.688C>G (p.Leu230Val) c.662C>G n.1214C>G c.1038C>G (p.Phe346Leu) | gnomAD v4 |
4 | g.6300824C>T | CA2839196 | WFS1 | c.1065C>T (p.Phe355=) c.1006C>T c.1029C>T (p.Phe343=) c.780C>T (p.Phe260=) c.688C>T (p.Leu230Phe) c.662C>T n.1214C>T c.1038C>T (p.Phe346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300824dup | CA2586973604 | WFS1 | c.1065dup (p.Phe356LeufsTer?) c.1006dup c.1029dup (p.Phe344LeufsTer?) c.780dup (p.Phe261LeufsTer?) c.688dup (p.Leu230ProfsTer16) c.662dup n.1214dup c.1038dup (p.Phe347LeufsTer?) | |
4 | g.6300825T>A | CA356174106 | WFS1 | c.1066T>A (p.Phe356Ile) c.1007T>A c.1030T>A (p.Phe344Ile) c.781T>A (p.Phe261Ile) c.689T>A (p.Leu230His) c.663T>A n.1215T>A c.1039T>A (p.Phe347Ile) | |
4 | g.6300825T>C | CA356174107 | WFS1 | c.1066T>C (p.Phe356Leu) c.1007T>C c.1030T>C (p.Phe344Leu) c.781T>C (p.Phe261Leu) c.689T>C (p.Leu230Pro) c.663T>C n.1215T>C c.1039T>C (p.Phe347Leu) | |
4 | g.6300825T>G | CA356174108 | WFS1 | c.1066T>G (p.Phe356Val) c.1007T>G c.1030T>G (p.Phe344Val) c.781T>G (p.Phe261Val) c.689T>G (p.Leu230Arg) c.663T>G n.1215T>G c.1039T>G (p.Phe347Val) | gnomAD v4 |
4 | g.6300826del | CA2669843415 | WFS1 | c.1067del (p.Phe356SerfsTer15) c.1008del c.1031del (p.Phe344SerfsTer15) c.782del (p.Phe261SerfsTer15) c.690del (p.His231IlefsTer?) c.664del n.1216del c.1040del (p.Phe347SerfsTer15) | gnomAD v4 |
4 | g.6300826T>A | CA356174109 | WFS1 | c.1067T>A (p.Phe356Tyr) c.1008T>A c.1031T>A (p.Phe344Tyr) c.782T>A (p.Phe261Tyr) c.690T>A (p.Leu230=) c.664T>A n.1216T>A c.1040T>A (p.Phe347Tyr) | |
4 | g.6300826T>C | CA356174110 | WFS1 | c.1067T>C (p.Phe356Ser) c.1008T>C c.1031T>C (p.Phe344Ser) c.782T>C (p.Phe261Ser) c.690T>C (p.Leu230=) c.664T>C n.1216T>C c.1040T>C (p.Phe347Ser) | |
4 | g.6300826T>G | CA356174111 | WFS1 | c.1067T>G (p.Phe356Cys) c.1008T>G c.1031T>G (p.Phe344Cys) c.782T>G (p.Phe261Cys) c.690T>G (p.Leu230=) c.664T>G n.1216T>G c.1040T>G (p.Phe347Cys) | |
4 | g.6300826_6300831dup | CA2669843416 | WFS1 | c.1067_1072dup (p.Ile357_Pro358insLeuIle) c.1008_1013dup c.1031_1036dup (p.Ile345_Pro346insLeuIle) c.782_787dup (p.Ile262_Pro263insLeuIle) c.690_695dup (p.Pro232_Ala233insHisPro) c.664_669dup n.1216_1221dup c.1040_1045dup (p.Ile348_Pro349insLeuIle) | gnomAD v4 |
4 | g.6300827C>A | CA356174112 | WFS1 | c.1068C>A (p.Phe356Leu) c.1009C>A c.1032C>A (p.Phe344Leu) c.783C>A (p.Phe261Leu) c.691C>A (p.His231Asn) c.665C>A n.1217C>A c.1041C>A (p.Phe347Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300827C= | CA1435772242 | WFS1 | c.1068C= (p.Phe356=) c.1009C= c.1032C= (p.Phe344=) c.783C= (p.Phe261=) c.691C= (p.His231=) c.665C= n.1217C= c.1041C= (p.Phe347=) | |
4 | g.6300827C>G | CA356174113 | WFS1 | c.1068C>G (p.Phe356Leu) c.1009C>G c.1032C>G (p.Phe344Leu) c.783C>G (p.Phe261Leu) c.691C>G (p.His231Asp) c.665C>G n.1217C>G c.1041C>G (p.Phe347Leu) | |
4 | g.6300827C>T | CA2839197 | WFS1 | c.1068C>T (p.Phe356=) c.1009C>T c.1032C>T (p.Phe344=) c.783C>T (p.Phe261=) c.691C>T (p.His231Tyr) c.665C>T n.1217C>T c.1041C>T (p.Phe347=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300828del | CA2669843417 | WFS1 | c.1069del (p.Ile357SerfsTer14) c.1010del c.1033del (p.Ile345SerfsTer14) c.784del (p.Ile262SerfsTer14) c.692del (p.His231LeufsTer?) c.666del n.1218del c.1042del (p.Ile348SerfsTer14) | gnomAD v4 |
4 | g.6300828A>C | CA356174114 | WFS1 | c.1069A>C (p.Ile357Leu) c.1010A>C c.1033A>C (p.Ile345Leu) c.784A>C (p.Ile262Leu) c.692A>C (p.His231Pro) c.666A>C n.1218A>C c.1042A>C (p.Ile348Leu) | |
4 | g.6300828A>G | CA356174115 | WFS1 | c.1069A>G (p.Ile357Val) c.1010A>G c.1033A>G (p.Ile345Val) c.784A>G (p.Ile262Val) c.692A>G (p.His231Arg) c.666A>G n.1218A>G c.1042A>G (p.Ile348Val) | |
4 | g.6300828A>T | CA356174116 | WFS1 | c.1069A>T (p.Ile357Phe) c.1010A>T c.1033A>T (p.Ile345Phe) c.784A>T (p.Ile262Phe) c.692A>T (p.His231Leu) c.666A>T n.1218A>T c.1042A>T (p.Ile348Phe) | |
4 | g.6300829T>A | CA356174118 | WFS1 | c.1070T>A (p.Ile357Asn) c.1011T>A c.1034T>A (p.Ile345Asn) c.785T>A (p.Ile262Asn) c.693T>A (p.His231Gln) c.667T>A n.1219T>A c.1043T>A (p.Ile348Asn) | |
4 | g.6300829T>C | CA356174119 | WFS1 | c.1070T>C (p.Ile357Thr) c.1011T>C c.1034T>C (p.Ile345Thr) c.785T>C (p.Ile262Thr) c.693T>C (p.His231=) c.667T>C n.1219T>C c.1043T>C (p.Ile348Thr) | gnomAD v4 |
4 | g.6300829T>G | CA356174117 | WFS1 | c.1070T>G (p.Ile357Ser) c.1011T>G c.1034T>G (p.Ile345Ser) c.785T>G (p.Ile262Ser) c.693T>G (p.His231Gln) c.667T>G n.1219T>G c.1043T>G (p.Ile348Ser) | dbSNP gnomAD v4 |
4 | g.6300829T= | CA1435772244 | WFS1 | c.1070T= (p.Ile357=) c.1011T= c.1034T= (p.Ile345=) c.785T= (p.Ile262=) c.693T= (p.His231=) c.667T= n.1219T= c.1043T= (p.Ile348=) | |
4 | g.6300830C>A | CA438367889 | WFS1 | c.1071C>A (p.Ile357=) c.1012C>A c.1035C>A (p.Ile345=) c.786C>A (p.Ile262=) c.694C>A (p.Pro232Thr) c.668C>A n.1220C>A c.1044C>A (p.Ile348=) | |
4 | g.6300830C>G | CA356174120 | WFS1 | c.1071C>G (p.Ile357Met) c.1012C>G c.1035C>G (p.Ile345Met) c.786C>G (p.Ile262Met) c.694C>G (p.Pro232Ala) c.668C>G n.1220C>G c.1044C>G (p.Ile348Met) | |
4 | g.6300830C>T | CA438367890 | WFS1 | c.1071C>T (p.Ile357=) c.1012C>T c.1035C>T (p.Ile345=) c.786C>T (p.Ile262=) c.694C>T (p.Pro232Ser) c.668C>T n.1220C>T c.1044C>T (p.Ile348=) | gnomAD v4 |
4 | g.6300832dup | CA2586973605 | WFS1 | c.1073dup (p.Leu359AlafsTer?) c.1014dup c.1037dup (p.Leu347AlafsTer?) c.788dup (p.Leu264AlafsTer?) c.696dup (p.Ala233ArgfsTer13) c.670dup n.1222dup c.1046dup (p.Leu350AlafsTer?) | |
4 | g.6300831C>A | CA356174121 | WFS1 | c.1072C>A (p.Pro358Thr) c.1013C>A c.1036C>A (p.Pro346Thr) c.787C>A (p.Pro263Thr) c.695C>A (p.Pro232His) c.669C>A n.1221C>A c.1045C>A (p.Pro349Thr) | |
4 | g.6300831C= | CA1435772246 | WFS1 | c.1072C= (p.Pro358=) c.1013C= c.1036C= (p.Pro346=) c.787C= (p.Pro263=) c.695C= (p.Pro232=) c.669C= n.1221C= c.1045C= (p.Pro349=) | |
4 | g.6300831C>G | CA356174122 | WFS1 | c.1072C>G (p.Pro358Ala) c.1013C>G c.1036C>G (p.Pro346Ala) c.787C>G (p.Pro263Ala) c.695C>G (p.Pro232Arg) c.669C>G n.1221C>G c.1045C>G (p.Pro349Ala) | gnomAD v4 |
4 | g.6300831C>T | CA356174123 | WFS1 | c.1072C>T (p.Pro358Ser) c.1013C>T c.1036C>T (p.Pro346Ser) c.787C>T (p.Pro263Ser) c.695C>T (p.Pro232Leu) c.669C>T n.1221C>T c.1045C>T (p.Pro349Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300832C>A | CA356174125 | WFS1 | c.1073C>A (p.Pro358Gln) c.1014C>A c.1037C>A (p.Pro346Gln) c.788C>A (p.Pro263Gln) c.696C>A (p.Pro232=) c.670C>A n.1222C>A c.1046C>A (p.Pro349Gln) | |
4 | g.6300832C= | CA1435772250 | WFS1 | c.1073C= (p.Pro358=) c.1014C= c.1037C= (p.Pro346=) c.788C= (p.Pro263=) c.696C= (p.Pro232=) c.670C= n.1222C= c.1046C= (p.Pro349=) | |
4 | g.6300832C>G | CA356174124 | WFS1 | c.1073C>G (p.Pro358Arg) c.1014C>G c.1037C>G (p.Pro346Arg) c.788C>G (p.Pro263Arg) c.696C>G (p.Pro232=) c.670C>G n.1222C>G c.1046C>G (p.Pro349Arg) | gnomAD v4 |
4 | g.6300832C>T | CA2839198 | WFS1 | c.1073C>T (p.Pro358Leu) c.1014C>T c.1037C>T (p.Pro346Leu) c.788C>T (p.Pro263Leu) c.696C>T (p.Pro232=) c.670C>T n.1222C>T c.1046C>T (p.Pro349Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300833G>A | CA2839199 | WFS1 | c.1074G>A (p.Pro358=) c.1015G>A c.1038G>A (p.Pro346=) c.789G>A (p.Pro263=) c.697G>A (p.Ala233Thr) c.671G>A n.1223G>A c.1047G>A (p.Pro349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300833G>C | CA438367894 | WFS1 | c.1074G>C (p.Pro358=) c.1015G>C c.1038G>C (p.Pro346=) c.789G>C (p.Pro263=) c.697G>C (p.Ala233Pro) c.671G>C n.1223G>C c.1047G>C (p.Pro349=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300833G= | CA1435772252 | WFS1 | c.1074G= (p.Pro358=) c.1015G= c.1038G= (p.Pro346=) c.789G= (p.Pro263=) c.697G= (p.Ala233=) c.671G= n.1223G= c.1047G= (p.Pro349=) | |
4 | g.6300833G>T | CA438367895 | WFS1 | c.1074G>T (p.Pro358=) c.1015G>T c.1038G>T (p.Pro346=) c.789G>T (p.Pro263=) c.697G>T (p.Ala233Ser) c.671G>T n.1223G>T c.1047G>T (p.Pro349=) | |
4 | g.6300834_6300836dup | CA1058891124 | WFS1 | c.1075_1077dup (p.Leu359_Val360insLeu) c.1016_1018dup c.1039_1041dup (p.Leu347_Val348insLeu) c.790_792dup (p.Leu264_Val265insLeu) c.698_700dup (p.Ala233_Gly234insAla) c.672_674dup n.1224_1226dup c.1048_1050dup (p.Leu350_Val351insLeu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300834C>A | CA356174126 | WFS1 | c.1075C>A (p.Leu359Met) c.1016C>A c.1039C>A (p.Leu347Met) c.790C>A (p.Leu264Met) c.698C>A (p.Ala233Asp) c.672C>A n.1224C>A c.1048C>A (p.Leu350Met) | |
4 | g.6300834C>G | CA356174127 | WFS1 | c.1075C>G (p.Leu359Val) c.1016C>G c.1039C>G (p.Leu347Val) c.790C>G (p.Leu264Val) c.698C>G (p.Ala233Gly) c.672C>G n.1224C>G c.1048C>G (p.Leu350Val) | |
4 | g.6300834C>T | CA438367896 | WFS1 | c.1075C>T (p.Leu359=) c.1016C>T c.1039C>T (p.Leu347=) c.790C>T (p.Leu264=) c.698C>T (p.Ala233Val) c.672C>T n.1224C>T c.1048C>T (p.Leu350=) | |
4 | g.6300835T>A | CA356174128 | WFS1 | c.1076T>A (p.Leu359Gln) c.1017T>A c.1040T>A (p.Leu347Gln) c.791T>A (p.Leu264Gln) c.699T>A (p.Ala233=) c.673T>A n.1225T>A c.1049T>A (p.Leu350Gln) | |
4 | g.6300835T>C | CA356174129 | WFS1 | c.1076T>C (p.Leu359Pro) c.1017T>C c.1040T>C (p.Leu347Pro) c.791T>C (p.Leu264Pro) c.699T>C (p.Ala233=) c.673T>C n.1225T>C c.1049T>C (p.Leu350Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300835T>G | CA356174130 | WFS1 | c.1076T>G (p.Leu359Arg) c.1017T>G c.1040T>G (p.Leu347Arg) c.791T>G (p.Leu264Arg) c.699T>G (p.Ala233=) c.673T>G n.1225T>G c.1049T>G (p.Leu350Arg) | |
4 | g.6300835T= | CA1435772256 | WFS1 | c.1076T= (p.Leu359=) c.1017T= c.1040T= (p.Leu347=) c.791T= (p.Leu264=) c.699T= (p.Ala233=) c.673T= n.1225T= c.1049T= (p.Leu350=) | |
4 | g.6300836G>A | CA2839200 | WFS1 | c.1077G>A (p.Leu359=) c.1018G>A c.1041G>A (p.Leu347=) c.792G>A (p.Leu264=) c.700G>A (p.Gly234Ser) c.674G>A n.1226G>A c.1050G>A (p.Leu350=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300836G>C | CA438367901 | WFS1 | c.1077G>C (p.Leu359=) c.1018G>C c.1041G>C (p.Leu347=) c.792G>C (p.Leu264=) c.700G>C (p.Gly234Arg) c.674G>C n.1226G>C c.1050G>C (p.Leu350=) | |
4 | g.6300836G= | CA1435772257 | WFS1 | c.1077G= (p.Leu359=) c.1018G= c.1041G= (p.Leu347=) c.792G= (p.Leu264=) c.700G= (p.Gly234=) c.674G= n.1226G= c.1050G= (p.Leu350=) | |
4 | g.6300836G>T | CA438367900 | WFS1 | c.1077G>T (p.Leu359=) c.1018G>T c.1041G>T (p.Leu347=) c.792G>T (p.Leu264=) c.700G>T (p.Gly234Cys) c.674G>T n.1226G>T c.1050G>T (p.Leu350=) | |
4 | g.6300837G>A | CA356174132 | WFS1 | c.1078G>A (p.Val360Ile) c.1019G>A c.1042G>A (p.Val348Ile) c.793G>A (p.Val265Ile) c.701G>A (p.Gly234Asp) c.675G>A n.1227G>A c.1051G>A (p.Val351Ile) | |
4 | g.6300837G>C | CA356174133 | WFS1 | c.1078G>C (p.Val360Leu) c.1019G>C c.1042G>C (p.Val348Leu) c.793G>C (p.Val265Leu) c.701G>C (p.Gly234Ala) c.675G>C n.1227G>C c.1051G>C (p.Val351Leu) | |
4 | g.6300837G>T | CA356174131 | WFS1 | c.1078G>T (p.Val360Phe) c.1019G>T c.1042G>T (p.Val348Phe) c.793G>T (p.Val265Phe) c.701G>T (p.Gly234Val) c.675G>T n.1227G>T c.1051G>T (p.Val351Phe) | |
4 | g.6300838T>A | CA356174134 | WFS1 | c.1079T>A (p.Val360Asp) c.1020T>A c.1043T>A (p.Val348Asp) c.794T>A (p.Val265Asp) c.702T>A (p.Gly234=) c.676T>A n.1228T>A c.1052T>A (p.Val351Asp) | |
4 | g.6300838T>C | CA356174136 | WFS1 | c.1079T>C (p.Val360Ala) c.1020T>C c.1043T>C (p.Val348Ala) c.794T>C (p.Val265Ala) c.702T>C (p.Gly234=) c.676T>C n.1228T>C c.1052T>C (p.Val351Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300838T>G | CA356174135 | WFS1 | c.1079T>G (p.Val360Gly) c.1020T>G c.1043T>G (p.Val348Gly) c.794T>G (p.Val265Gly) c.702T>G (p.Gly234=) c.676T>G n.1228T>G c.1052T>G (p.Val351Gly) | |
4 | g.6300838T= | CA1435772259 | WFS1 | c.1079T= (p.Val360=) c.1020T= c.1043T= (p.Val348=) c.794T= (p.Val265=) c.702T= (p.Gly234=) c.676T= n.1228T= c.1052T= (p.Val351=) | |
4 | g.6300844_6300861del | CA2669843418 | WFS1 | c.1085_1102del (p.Phe362_Ile367del) c.1026_1043del c.1049_1066del (p.Phe350_Ile355del) c.800_817del (p.Phe267_Ile272del) c.708_725del (p.Leu237_Leu242del) c.682_699del n.1234_1251del c.1058_1075del (p.Phe353_Ile358del) | gnomAD v4 |
4 | g.6300839C>A | CA438367903 | WFS1 | c.1080C>A (p.Val360=) c.1021C>A c.1044C>A (p.Val348=) c.795C>A (p.Val265=) c.703C>A (p.His235Asn) c.677C>A n.1229C>A c.1053C>A (p.Val351=) | |
4 | g.6300839C= | CA1435772261 | WFS1 | c.1080C= (p.Val360=) c.1021C= c.1044C= (p.Val348=) c.795C= (p.Val265=) c.703C= (p.His235=) c.677C= n.1229C= c.1053C= (p.Val351=) | |
4 | g.6300839C>G | CA2839201 | WFS1 | c.1080C>G (p.Val360=) c.1021C>G c.1044C>G (p.Val348=) c.795C>G (p.Val265=) c.703C>G (p.His235Asp) c.677C>G n.1229C>G c.1053C>G (p.Val351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300839C>T | CA438367904 | WFS1 | c.1080C>T (p.Val360=) c.1021C>T c.1044C>T (p.Val348=) c.795C>T (p.Val265=) c.703C>T (p.His235Tyr) c.677C>T n.1229C>T c.1053C>T (p.Val351=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300840A= | CA1435772263 | WFS1 | c.1081A= (p.Ile361=) c.1022A= c.1045A= (p.Ile349=) c.796A= (p.Ile266=) c.704A= (p.His235=) c.678A= n.1230A= c.1054A= (p.Ile352=) | |
4 | g.6300840A>C | CA356174138 | WFS1 | c.1081A>C (p.Ile361Leu) c.1022A>C c.1045A>C (p.Ile349Leu) c.796A>C (p.Ile266Leu) c.704A>C (p.His235Pro) c.678A>C n.1230A>C c.1054A>C (p.Ile352Leu) | |
4 | g.6300840A>G | CA356174137 | WFS1 | c.1081A>G (p.Ile361Val) c.1022A>G c.1045A>G (p.Ile349Val) c.796A>G (p.Ile266Val) c.704A>G (p.His235Arg) c.678A>G n.1230A>G c.1054A>G (p.Ile352Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300840A>T | CA356174139 | WFS1 | c.1081A>T (p.Ile361Phe) c.1022A>T c.1045A>T (p.Ile349Phe) c.796A>T (p.Ile266Phe) c.704A>T (p.His235Leu) c.678A>T n.1230A>T c.1054A>T (p.Ile352Phe) | |
4 | g.6300840_6300843delinsATCT | CA1435772264 | WFS1 | c.1081_1084delinsATCT (p.Ile361=) c.1022_1025delinsATCT c.1045_1048delinsATCT (p.Ile349=) c.796_799delinsATCT (p.Ile266=) c.704_707delinsATCT (p.His235=) c.678_681delinsATCT n.1230_1233delinsATCT c.1054_1057delinsATCT (p.Ile352=) | |
4 | g.6300841T>A | CA356174140 | WFS1 | c.1082T>A (p.Ile361Asn) c.1023T>A c.1046T>A (p.Ile349Asn) c.797T>A (p.Ile266Asn) c.705T>A (p.His235Gln) c.679T>A n.1231T>A c.1055T>A (p.Ile352Asn) | |
4 | g.6300841T>C | CA356174141 | WFS1 | c.1082T>C (p.Ile361Thr) c.1023T>C c.1046T>C (p.Ile349Thr) c.797T>C (p.Ile266Thr) c.705T>C (p.His235=) c.679T>C n.1231T>C c.1055T>C (p.Ile352Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300841T>G | CA356174142 | WFS1 | c.1082T>G (p.Ile361Ser) c.1023T>G c.1046T>G (p.Ile349Ser) c.797T>G (p.Ile266Ser) c.705T>G (p.His235Gln) c.679T>G n.1231T>G c.1055T>G (p.Ile352Ser) | |
4 | g.6300841T= | CA1435772268 | WFS1 | c.1082T= (p.Ile361=) c.1023T= c.1046T= (p.Ile349=) c.797T= (p.Ile266=) c.705T= (p.His235=) c.679T= n.1231T= c.1055T= (p.Ile352=) | |
4 | g.6300841_6300842delinsAG | CA2586973606 | WFS1 | c.1082_1083delinsAG (p.Ile361Lys) c.1023_1024delinsAG c.1046_1047delinsAG (p.Ile349Lys) c.797_798delinsAG (p.Ile266Lys) c.705_706delinsAG (p.His235_Leu236delinsGlnVal) c.679_680delinsAG n.1231_1232delinsAG c.1055_1056delinsAG (p.Ile352Lys) | |
4 | g.6300844_6300846del | CA438367905 | WFS1 | c.1085_1087del (p.Phe362del) c.1026_1028del c.1049_1051del (p.Phe350del) c.800_802del (p.Phe267del) c.708_710del (p.Leu237del) c.682_684del n.1234_1236del c.1058_1060del (p.Phe353del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300842C>A | CA438367907 | WFS1 | c.1083C>A (p.Ile361=) c.1024C>A c.1047C>A (p.Ile349=) c.798C>A (p.Ile266=) c.706C>A (p.Leu236Ile) c.680C>A n.1232C>A c.1056C>A (p.Ile352=) | |
4 | g.6300842C= | CA1435772270 | WFS1 | c.1083C= (p.Ile361=) c.1024C= c.1047C= (p.Ile349=) c.798C= (p.Ile266=) c.706C= (p.Leu236=) c.680C= n.1232C= c.1056C= (p.Ile352=) | |
4 | g.6300842C>G | CA356174143 | WFS1 | c.1083C>G (p.Ile361Met) c.1024C>G c.1047C>G (p.Ile349Met) c.798C>G (p.Ile266Met) c.706C>G (p.Leu236Val) c.680C>G n.1232C>G c.1056C>G (p.Ile352Met) | |
4 | g.6300842C>T | CA2839202 | WFS1 | c.1083C>T (p.Ile361=) c.1024C>T c.1047C>T (p.Ile349=) c.798C>T (p.Ile266=) c.706C>T (p.Leu236Phe) c.680C>T n.1232C>T c.1056C>T (p.Ile352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300843T>A | CA356174144 | WFS1 | c.1084T>A (p.Phe362Ile) c.1025T>A c.1048T>A (p.Phe350Ile) c.799T>A (p.Phe267Ile) c.707T>A (p.Leu236His) c.681T>A n.1233T>A c.1057T>A (p.Phe353Ile) | dbSNP gnomAD v4 |
4 | g.6300843T>C | CA356174145 | WFS1 | c.1084T>C (p.Phe362Leu) c.1025T>C c.1048T>C (p.Phe350Leu) c.799T>C (p.Phe267Leu) c.707T>C (p.Leu236Pro) c.681T>C n.1233T>C c.1057T>C (p.Phe353Leu) | |
4 | g.6300843T>G | CA356174146 | WFS1 | c.1084T>G (p.Phe362Val) c.1025T>G c.1048T>G (p.Phe350Val) c.799T>G (p.Phe267Val) c.707T>G (p.Leu236Arg) c.681T>G n.1233T>G c.1057T>G (p.Phe353Val) | |
4 | g.6300843T= | CA1435772272 | WFS1 | c.1084T= (p.Phe362=) c.1025T= c.1048T= (p.Phe350=) c.799T= (p.Phe267=) c.707T= (p.Leu236=) c.681T= n.1233T= c.1057T= (p.Phe353=) | |
4 | g.6300844T>A | CA356174147 | WFS1 | c.1085T>A (p.Phe362Tyr) c.1026T>A c.1049T>A (p.Phe350Tyr) c.800T>A (p.Phe267Tyr) c.708T>A (p.Leu236=) c.682T>A n.1234T>A c.1058T>A (p.Phe353Tyr) | |
4 | g.6300844T>C | CA356174148 | WFS1 | c.1085T>C (p.Phe362Ser) c.1026T>C c.1049T>C (p.Phe350Ser) c.800T>C (p.Phe267Ser) c.708T>C (p.Leu236=) c.682T>C n.1234T>C c.1058T>C (p.Phe353Ser) | |
4 | g.6300844T>G | CA356174149 | WFS1 | c.1085T>G (p.Phe362Cys) c.1026T>G c.1049T>G (p.Phe350Cys) c.800T>G (p.Phe267Cys) c.708T>G (p.Leu236=) c.682T>G n.1234T>G c.1058T>G (p.Phe353Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300844T= | CA1435772275 | WFS1 | c.1085T= (p.Phe362=) c.1026T= c.1049T= (p.Phe350=) c.800T= (p.Phe267=) c.708T= (p.Leu236=) c.682T= n.1234T= c.1058T= (p.Phe353=) | |
4 | g.6300844_6300848delinsTCTAC | CA1435772276 | WFS1 | c.1085_1089delinsTCTAC (p.Phe362=) c.1026_1030delinsTCTAC c.1049_1053delinsTCTAC (p.Phe350=) c.800_804delinsTCTAC (p.Phe267=) c.708_712delinsTCTAC (p.Leu236=) c.682_686delinsTCTAC n.1234_1238delinsTCTAC c.1058_1062delinsTCTAC (p.Phe353=) | |
4 | g.6300845C>A | CA356174150 | WFS1 | c.1086C>A (p.Phe362Leu) c.1027C>A c.1050C>A (p.Phe350Leu) c.801C>A (p.Phe267Leu) c.709C>A (p.Leu237Ile) c.683C>A n.1235C>A c.1059C>A (p.Phe353Leu) | |
4 | g.6300845C= | CA1435772278 | WFS1 | c.1086C= (p.Phe362=) c.1027C= c.1050C= (p.Phe350=) c.801C= (p.Phe267=) c.709C= (p.Leu237=) c.683C= n.1235C= c.1059C= (p.Phe353=) | |
4 | g.6300845C>G | CA2839203 | WFS1 | c.1086C>G (p.Phe362Leu) c.1027C>G c.1050C>G (p.Phe350Leu) c.801C>G (p.Phe267Leu) c.709C>G (p.Leu237Val) c.683C>G n.1235C>G c.1059C>G (p.Phe353Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300845C>T | CA438367911 | WFS1 | c.1086C>T (p.Phe362=) c.1027C>T c.1050C>T (p.Phe350=) c.801C>T (p.Phe267=) c.709C>T (p.Leu237=) c.683C>T n.1235C>T c.1059C>T (p.Phe353=) | |
4 | g.6300847_6300850del | CA549707895 | WFS1 | c.1088_1091del (p.Tyr363CysfsTer7) c.1029_1032del c.1052_1055del (p.Tyr351CysfsTer7) c.803_806del (p.Tyr268CysfsTer7) c.711_714del (p.Pro238SerfsTer?) c.685_688del n.1237_1240del c.1061_1064del (p.Tyr354CysfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300846T>A | CA356174151 | WFS1 | c.1087T>A (p.Tyr363Asn) c.1028T>A c.1051T>A (p.Tyr351Asn) c.802T>A (p.Tyr268Asn) c.710T>A (p.Leu237Gln) c.684T>A n.1236T>A c.1060T>A (p.Tyr354Asn) | |
4 | g.6300846T>C | CA356174153 | WFS1 | c.1087T>C (p.Tyr363His) c.1028T>C c.1051T>C (p.Tyr351His) c.802T>C (p.Tyr268His) c.710T>C (p.Leu237Pro) c.684T>C n.1236T>C c.1060T>C (p.Tyr354His) | |
4 | g.6300846T>G | CA356174152 | WFS1 | c.1087T>G (p.Tyr363Asp) c.1028T>G c.1051T>G (p.Tyr351Asp) c.802T>G (p.Tyr268Asp) c.710T>G (p.Leu237Arg) c.684T>G n.1236T>G c.1060T>G (p.Tyr354Asp) | |
4 | g.6300847A= | CA1435772281 | WFS1 | c.1088A= (p.Tyr363=) c.1029A= c.1052A= (p.Tyr351=) c.803A= (p.Tyr268=) c.711A= (p.Leu237=) c.685A= n.1237A= c.1061A= (p.Tyr354=) | |
4 | g.6300847A>C | CA356174154 | WFS1 | c.1088A>C (p.Tyr363Ser) c.1029A>C c.1052A>C (p.Tyr351Ser) c.803A>C (p.Tyr268Ser) c.711A>C (p.Leu237=) c.685A>C n.1237A>C c.1061A>C (p.Tyr354Ser) | ClinVar |
4 | g.6300847A>G | CA2839204 | WFS1 | c.1088A>G (p.Tyr363Cys) c.1029A>G c.1052A>G (p.Tyr351Cys) c.803A>G (p.Tyr268Cys) c.711A>G (p.Leu237=) c.685A>G n.1237A>G c.1061A>G (p.Tyr354Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300847A>T | CA356174155 | WFS1 | c.1088A>T (p.Tyr363Phe) c.1029A>T c.1052A>T (p.Tyr351Phe) c.803A>T (p.Tyr268Phe) c.711A>T (p.Leu237=) c.685A>T n.1237A>T c.1061A>T (p.Tyr354Phe) | dbSNP gnomAD v2 |
4 | g.6300848C>A | CA356174156 | WFS1 | c.1089C>A (p.Tyr363Ter) c.1030C>A c.1053C>A (p.Tyr351Ter) c.804C>A (p.Tyr268Ter) c.712C>A (p.Pro238Thr) c.686C>A n.1238C>A c.1062C>A (p.Tyr354Ter) | |
4 | g.6300848C= | CA1435772283 | WFS1 | c.1089C= (p.Tyr363=) c.1030C= c.1053C= (p.Tyr351=) c.804C= (p.Tyr268=) c.712C= (p.Pro238=) c.686C= n.1238C= c.1062C= (p.Tyr354=) | |
4 | g.6300848C>G | CA356174157 | WFS1 | c.1089C>G (p.Tyr363Ter) c.1030C>G c.1053C>G (p.Tyr351Ter) c.804C>G (p.Tyr268Ter) c.712C>G (p.Pro238Ala) c.686C>G n.1238C>G c.1062C>G (p.Tyr354Ter) | |
4 | g.6300848C>T | CA438367913 | WFS1 | c.1089C>T (p.Tyr363=) c.1030C>T c.1053C>T (p.Tyr351=) c.804C>T (p.Tyr268=) c.712C>T (p.Pro238Ser) c.686C>T n.1238C>T c.1062C>T (p.Tyr354=) | dbSNP gnomAD v4 |
4 | g.6300849C>A | CA356174158 | WFS1 | c.1090C>A (p.Leu364Met) c.1031C>A c.1054C>A (p.Leu352Met) c.805C>A (p.Leu269Met) c.713C>A (p.Pro238His) c.687C>A n.1239C>A c.1063C>A (p.Leu355Met) | dbSNP |
4 | g.6300849C= | CA1435772286 | WFS1 | c.1090C= (p.Leu364=) c.1031C= c.1054C= (p.Leu352=) c.805C= (p.Leu269=) c.713C= (p.Pro238=) c.687C= n.1239C= c.1063C= (p.Leu355=) | |
4 | g.6300849C>G | CA356174159 | WFS1 | c.1090C>G (p.Leu364Val) c.1031C>G c.1054C>G (p.Leu352Val) c.805C>G (p.Leu269Val) c.713C>G (p.Pro238Arg) c.687C>G n.1239C>G c.1063C>G (p.Leu355Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300849C>T | CA438367914 | WFS1 | c.1090C>T (p.Leu364=) c.1031C>T c.1054C>T (p.Leu352=) c.805C>T (p.Leu269=) c.713C>T (p.Pro238Leu) c.687C>T n.1239C>T c.1063C>T (p.Leu355=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300850T>A | CA356174160 | WFS1 | c.1091T>A (p.Leu364Gln) c.1032T>A c.1055T>A (p.Leu352Gln) c.806T>A (p.Leu269Gln) c.714T>A (p.Pro238=) c.688T>A n.1240T>A c.1064T>A (p.Leu355Gln) | |
4 | g.6300850T>C | CA356174161 | WFS1 | c.1091T>C (p.Leu364Pro) c.1032T>C c.1055T>C (p.Leu352Pro) c.806T>C (p.Leu269Pro) c.714T>C (p.Pro238=) c.688T>C n.1240T>C c.1064T>C (p.Leu355Pro) | gnomAD v4 |
4 | g.6300850T>G | CA356174162 | WFS1 | c.1091T>G (p.Leu364Arg) c.1032T>G c.1055T>G (p.Leu352Arg) c.806T>G (p.Leu269Arg) c.714T>G (p.Pro238=) c.688T>G n.1240T>G c.1064T>G (p.Leu355Arg) | |
4 | g.6300851G>A | CA438367915 | WFS1 | c.1092G>A (p.Leu364=) c.1033G>A c.1056G>A (p.Leu352=) c.807G>A (p.Leu269=) c.715G>A (p.Val239Ile) c.689G>A n.1241G>A c.1065G>A (p.Leu355=) | gnomAD v4 COSMIC |
4 | g.6300851G>C | CA438367916 | WFS1 | c.1092G>C (p.Leu364=) c.1033G>C c.1056G>C (p.Leu352=) c.807G>C (p.Leu269=) c.715G>C (p.Val239Leu) c.689G>C n.1241G>C c.1065G>C (p.Leu355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300851G= | CA1435772288 | WFS1 | c.1092G= (p.Leu364=) c.1033G= c.1056G= (p.Leu352=) c.807G= (p.Leu269=) c.715G= (p.Val239=) c.689G= n.1241G= c.1065G= (p.Leu355=) | |
4 | g.6300851G>T | CA438367917 | WFS1 | c.1092G>T (p.Leu364=) c.1033G>T c.1056G>T (p.Leu352=) c.807G>T (p.Leu269=) c.715G>T (p.Val239Phe) c.689G>T n.1241G>T c.1065G>T (p.Leu355=) | |
4 | g.6300852T>A | CA356174165 | WFS1 | c.1093T>A (p.Ser365Thr) c.1034T>A c.1057T>A (p.Ser353Thr) c.808T>A (p.Ser270Thr) c.716T>A (p.Val239Asp) c.690T>A n.1242T>A c.1066T>A (p.Ser356Thr) | |
4 | g.6300852T>C | CA356174164 | WFS1 | c.1093T>C (p.Ser365Pro) c.1034T>C c.1057T>C (p.Ser353Pro) c.808T>C (p.Ser270Pro) c.716T>C (p.Val239Ala) c.690T>C n.1242T>C c.1066T>C (p.Ser356Pro) | |
4 | g.6300852T>G | CA356174163 | WFS1 | c.1093T>G (p.Ser365Ala) c.1034T>G c.1057T>G (p.Ser353Ala) c.808T>G (p.Ser270Ala) c.716T>G (p.Val239Gly) c.690T>G n.1242T>G c.1066T>G (p.Ser356Ala) | |
4 | g.6300853C>A | CA356174166 | WFS1 | c.1094C>A (p.Ser365Tyr) c.1035C>A c.1058C>A (p.Ser353Tyr) c.809C>A (p.Ser270Tyr) c.717C>A (p.Val239=) c.691C>A n.1243C>A c.1067C>A (p.Ser356Tyr) | |
4 | g.6300853C= | CA1435772292 | WFS1 | c.1094C= (p.Ser365=) c.1035C= c.1058C= (p.Ser353=) c.809C= (p.Ser270=) c.717C= (p.Val239=) c.691C= n.1243C= c.1067C= (p.Ser356=) | |
4 | g.6300853C>G | CA2839206 | WFS1 | c.1094C>G (p.Ser365Cys) c.1035C>G c.1058C>G (p.Ser353Cys) c.809C>G (p.Ser270Cys) c.717C>G (p.Val239=) c.691C>G n.1243C>G c.1067C>G (p.Ser356Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300853C>T | CA91796223 | WFS1 | c.1094C>T (p.Ser365Phe) c.1035C>T c.1058C>T (p.Ser353Phe) c.809C>T (p.Ser270Phe) c.717C>T (p.Val239=) c.691C>T n.1243C>T c.1067C>T (p.Ser356Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300853_6300856delinsCCTT | CA1435772290 | WFS1 | c.1094_1097delinsCCTT (p.Ser365=) c.1035_1038delinsCCTT c.1058_1061delinsCCTT (p.Ser353=) c.809_812delinsCCTT (p.Ser270=) c.717_720delinsCCTT (p.Val239=) c.691_694delinsCCTT n.1243_1246delinsCCTT c.1067_1070delinsCCTT (p.Ser356=) | |
4 | g.6300854C>A | CA438367921 | WFS1 | c.1095C>A (p.Ser365=) c.1036C>A c.1059C>A (p.Ser353=) c.810C>A (p.Ser270=) c.718C>A (p.Leu240Ile) c.692C>A n.1244C>A c.1068C>A (p.Ser356=) | ClinVar |
4 | g.6300854C= | CA1435772297 | WFS1 | c.1095C= (p.Ser365=) c.1036C= c.1059C= (p.Ser353=) c.810C= (p.Ser270=) c.718C= (p.Leu240=) c.692C= n.1244C= c.1068C= (p.Ser356=) | |
4 | g.6300854C>G | CA438367920 | WFS1 | c.1095C>G (p.Ser365=) c.1036C>G c.1059C>G (p.Ser353=) c.810C>G (p.Ser270=) c.718C>G (p.Leu240Val) c.692C>G n.1244C>G c.1068C>G (p.Ser356=) | |
4 | g.6300854C>T | CA2839207 | WFS1 | c.1095C>T (p.Ser365=) c.1036C>T c.1059C>T (p.Ser353=) c.810C>T (p.Ser270=) c.718C>T (p.Leu240Phe) c.692C>T n.1244C>T c.1068C>T (p.Ser356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300855_6300857del | CA2839205 | WFS1 | c.1096_1098del (p.Phe366del) c.1037_1039del c.1060_1062del (p.Phe354del) c.811_813del (p.Phe271del) c.719_721del (p.Leu240del) c.693_695del n.1245_1247del c.1069_1071del (p.Phe357del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300855T>A | CA356174167 | WFS1 | c.1096T>A (p.Phe366Ile) c.1037T>A c.1060T>A (p.Phe354Ile) c.811T>A (p.Phe271Ile) c.719T>A (p.Leu240His) c.693T>A n.1245T>A c.1069T>A (p.Phe357Ile) | |
4 | g.6300855T>C | CA356174168 | WFS1 | c.1096T>C (p.Phe366Leu) c.1037T>C c.1060T>C (p.Phe354Leu) c.811T>C (p.Phe271Leu) c.719T>C (p.Leu240Pro) c.693T>C n.1245T>C c.1069T>C (p.Phe357Leu) | gnomAD v4 |
4 | g.6300855T>G | CA356174169 | WFS1 | c.1096T>G (p.Phe366Val) c.1037T>G c.1060T>G (p.Phe354Val) c.811T>G (p.Phe271Val) c.719T>G (p.Leu240Arg) c.693T>G n.1245T>G c.1069T>G (p.Phe357Val) | |
4 | g.6300855_6300856insG | CA2669843419 | WFS1 | c.1096_1097insG (p.Phe366CysfsTer?) c.1037_1038insG c.1060_1061insG (p.Phe354CysfsTer?) c.811_812insG (p.Phe271CysfsTer?) c.719_720insG (p.His241SerfsTer5) c.693_694insG n.1245_1246insG c.1069_1070insG (p.Phe357CysfsTer?) | gnomAD v4 |
4 | g.6300856T>A | CA356174170 | WFS1 | c.1097T>A (p.Phe366Tyr) c.1038T>A c.1061T>A (p.Phe354Tyr) c.812T>A (p.Phe271Tyr) c.720T>A (p.Leu240=) c.694T>A n.1246T>A c.1070T>A (p.Phe357Tyr) | |
4 | g.6300856T>C | CA356174171 | WFS1 | c.1097T>C (p.Phe366Ser) c.1038T>C c.1061T>C (p.Phe354Ser) c.812T>C (p.Phe271Ser) c.720T>C (p.Leu240=) c.694T>C n.1246T>C c.1070T>C (p.Phe357Ser) | |
4 | g.6300856T>G | CA356174172 | WFS1 | c.1097T>G (p.Phe366Cys) c.1038T>G c.1061T>G (p.Phe354Cys) c.812T>G (p.Phe271Cys) c.720T>G (p.Leu240=) c.694T>G n.1246T>G c.1070T>G (p.Phe357Cys) | |
4 | g.6300857C>A | CA356174173 | WFS1 | c.1098C>A (p.Phe366Leu) c.1039C>A c.1062C>A (p.Phe354Leu) c.813C>A (p.Phe271Leu) c.721C>A (p.His241Asn) c.695C>A n.1247C>A c.1071C>A (p.Phe357Leu) | |
4 | g.6300857C= | CA1435772299 | WFS1 | c.1098C= (p.Phe366=) c.1039C= c.1062C= (p.Phe354=) c.813C= (p.Phe271=) c.721C= (p.His241=) c.695C= n.1247C= c.1071C= (p.Phe357=) | |
4 | g.6300857C>G | CA356174174 | WFS1 | c.1098C>G (p.Phe366Leu) c.1039C>G c.1062C>G (p.Phe354Leu) c.813C>G (p.Phe271Leu) c.721C>G (p.His241Asp) c.695C>G n.1247C>G c.1071C>G (p.Phe357Leu) | |
4 | g.6300857C>T | CA438367925 | WFS1 | c.1098C>T (p.Phe366=) c.1039C>T c.1062C>T (p.Phe354=) c.813C>T (p.Phe271=) c.721C>T (p.His241Tyr) c.695C>T n.1247C>T c.1071C>T (p.Phe357=) | dbSNP |
4 | g.6300858A= | CA1435772300 | WFS1 | c.1099A= (p.Ile367=) c.1040A= c.1063A= (p.Ile355=) c.814A= (p.Ile272=) c.722A= (p.His241=) c.696A= n.1248A= c.1072A= (p.Ile358=) | |
4 | g.6300858A>C | CA356174177 | WFS1 | c.1099A>C (p.Ile367Leu) c.1040A>C c.1063A>C (p.Ile355Leu) c.814A>C (p.Ile272Leu) c.722A>C (p.His241Pro) c.696A>C n.1248A>C c.1072A>C (p.Ile358Leu) | dbSNP gnomAD v4 |
4 | g.6300858A>G | CA356174175 | WFS1 | c.1099A>G (p.Ile367Val) c.1040A>G c.1063A>G (p.Ile355Val) c.814A>G (p.Ile272Val) c.722A>G (p.His241Arg) c.696A>G n.1248A>G c.1072A>G (p.Ile358Val) | ClinVar gnomAD v4 |
4 | g.6300858A>T | CA356174176 | WFS1 | c.1099A>T (p.Ile367Phe) c.1040A>T c.1063A>T (p.Ile355Phe) c.814A>T (p.Ile272Phe) c.722A>T (p.His241Leu) c.696A>T n.1248A>T c.1072A>T (p.Ile358Phe) | gnomAD v4 |
4 | g.6300859T>A | CA356174178 | WFS1 | c.1100T>A (p.Ile367Asn) c.1041T>A c.1064T>A (p.Ile355Asn) c.815T>A (p.Ile272Asn) c.723T>A (p.His241Gln) c.697T>A n.1249T>A c.1073T>A (p.Ile358Asn) | |
4 | g.6300859T>C | CA356174179 | WFS1 | c.1100T>C (p.Ile367Thr) c.1041T>C c.1064T>C (p.Ile355Thr) c.815T>C (p.Ile272Thr) c.723T>C (p.His241=) c.697T>C n.1249T>C c.1073T>C (p.Ile358Thr) | |
4 | g.6300859T>G | CA2839208 | WFS1 | c.1100T>G (p.Ile367Ser) c.1041T>G c.1064T>G (p.Ile355Ser) c.815T>G (p.Ile272Ser) c.723T>G (p.His241Gln) c.697T>G n.1249T>G c.1073T>G (p.Ile358Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300859T= | CA1435772302 | WFS1 | c.1100T= (p.Ile367=) c.1041T= c.1064T= (p.Ile355=) c.815T= (p.Ile272=) c.723T= (p.His241=) c.697T= n.1249T= c.1073T= (p.Ile358=) | |
4 | g.6300860C>A | CA2839209 | WFS1 | c.1101C>A (p.Ile367=) c.1042C>A c.1065C>A (p.Ile355=) c.816C>A (p.Ile272=) c.724C>A (p.Leu242Ile) c.698C>A n.1250C>A c.1074C>A (p.Ile358=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300860C= | CA1435772304 | WFS1 | c.1101C= (p.Ile367=) c.1042C= c.1065C= (p.Ile355=) c.816C= (p.Ile272=) c.724C= (p.Leu242=) c.698C= n.1250C= c.1074C= (p.Ile358=) | |
4 | g.6300860C>G | CA356174180 | WFS1 | c.1101C>G (p.Ile367Met) c.1042C>G c.1065C>G (p.Ile355Met) c.816C>G (p.Ile272Met) c.724C>G (p.Leu242Val) c.698C>G n.1250C>G c.1074C>G (p.Ile358Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300860C>T | CA438367929 | WFS1 | c.1101C>T (p.Ile367=) c.1042C>T c.1065C>T (p.Ile355=) c.816C>T (p.Ile272=) c.724C>T (p.Leu242Phe) c.698C>T n.1250C>T c.1074C>T (p.Ile358=) | gnomAD v4 |
4 | g.6300861T>A | CA356174181 | WFS1 | c.1102T>A (p.Ser368Thr) c.1043T>A c.1066T>A (p.Ser356Thr) c.817T>A (p.Ser273Thr) c.725T>A (p.Leu242His) c.699T>A n.1251T>A c.1075T>A (p.Ser359Thr) | |
4 | g.6300861T>C | CA356174182 | WFS1 | c.1102T>C (p.Ser368Pro) c.1043T>C c.1066T>C (p.Ser356Pro) c.817T>C (p.Ser273Pro) c.725T>C (p.Leu242Pro) c.699T>C n.1251T>C c.1075T>C (p.Ser359Pro) | |
4 | g.6300861T>G | CA356174183 | WFS1 | c.1102T>G (p.Ser368Ala) c.1043T>G c.1066T>G (p.Ser356Ala) c.817T>G (p.Ser273Ala) c.725T>G (p.Leu242Arg) c.699T>G n.1251T>G c.1075T>G (p.Ser359Ala) | gnomAD v4 |
4 | g.6300862C>A | CA356174184 | WFS1 | c.1103C>A (p.Ser368Tyr) c.1044C>A c.1067C>A (p.Ser356Tyr) c.818C>A (p.Ser273Tyr) c.726C>A (p.Leu242=) c.700C>A n.1252C>A c.1076C>A (p.Ser359Tyr) | gnomAD v4 |
4 | g.6300862C= | CA1435772307 | WFS1 | c.1103C= (p.Ser368=) c.1044C= c.1067C= (p.Ser356=) c.818C= (p.Ser273=) c.726C= (p.Leu242=) c.700C= n.1252C= c.1076C= (p.Ser359=) | |
4 | g.6300862C>G | CA356174185 | WFS1 | c.1103C>G (p.Ser368Cys) c.1044C>G c.1067C>G (p.Ser356Cys) c.818C>G (p.Ser273Cys) c.726C>G (p.Leu242=) c.700C>G n.1252C>G c.1076C>G (p.Ser359Cys) | gnomAD v4 |
4 | g.6300862C>T | CA356174186 | WFS1 | c.1103C>T (p.Ser368Phe) c.1044C>T c.1067C>T (p.Ser356Phe) c.818C>T (p.Ser273Phe) c.726C>T (p.Leu242=) c.700C>T n.1252C>T c.1076C>T (p.Ser359Phe) | dbSNP |
4 | g.6300863C>A | CA438367931 | WFS1 | c.1104C>A (p.Ser368=) c.1045C>A c.1068C>A (p.Ser356=) c.819C>A (p.Ser273=) c.727C>A (p.His243Asn) c.701C>A n.1253C>A c.1077C>A (p.Ser359=) | |
4 | g.6300863C= | CA1435772309 | WFS1 | c.1104C= (p.Ser368=) c.1045C= c.1068C= (p.Ser356=) c.819C= (p.Ser273=) c.727C= (p.His243=) c.701C= n.1253C= c.1077C= (p.Ser359=) | |
4 | g.6300863C>G | CA438367932 | WFS1 | c.1104C>G (p.Ser368=) c.1045C>G c.1068C>G (p.Ser356=) c.819C>G (p.Ser273=) c.727C>G (p.His243Asp) c.701C>G n.1253C>G c.1077C>G (p.Ser359=) | |
4 | g.6300863C>T | CA2839210 | WFS1 | c.1104C>T (p.Ser368=) c.1045C>T c.1068C>T (p.Ser356=) c.819C>T (p.Ser273=) c.727C>T (p.His243Tyr) c.701C>T n.1253C>T c.1077C>T (p.Ser359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300864A>C | CA356174188 | WFS1 | c.1105A>C (p.Met369Leu) c.1046A>C c.1069A>C (p.Met357Leu) c.820A>C (p.Met274Leu) c.728A>C (p.His243Pro) c.702A>C n.1254A>C c.1078A>C (p.Met360Leu) | |
4 | g.6300864A>G | CA356174189 | WFS1 | c.1105A>G (p.Met369Val) c.1046A>G c.1069A>G (p.Met357Val) c.820A>G (p.Met274Val) c.728A>G (p.His243Arg) c.702A>G n.1254A>G c.1078A>G (p.Met360Val) | gnomAD v4 |
4 | g.6300864A>T | CA356174187 | WFS1 | c.1105A>T (p.Met369Leu) c.1046A>T c.1069A>T (p.Met357Leu) c.820A>T (p.Met274Leu) c.728A>T (p.His243Leu) c.702A>T n.1254A>T c.1078A>T (p.Met360Leu) | |
4 | g.6300865T>A | CA356174190 | WFS1 | c.1106T>A (p.Met369Lys) c.1047T>A c.1070T>A (p.Met357Lys) c.821T>A (p.Met274Lys) c.729T>A (p.His243Gln) c.703T>A n.1255T>A c.1079T>A (p.Met360Lys) | |
4 | g.6300865T>C | CA91796224 | WFS1 | c.1106T>C (p.Met369Thr) c.1047T>C c.1070T>C (p.Met357Thr) c.821T>C (p.Met274Thr) c.729T>C (p.His243=) c.703T>C n.1255T>C c.1079T>C (p.Met360Thr) | dbSNP gnomAD v4 |
4 | g.6300865T>G | CA356174191 | WFS1 | c.1106T>G (p.Met369Arg) c.1047T>G c.1070T>G (p.Met357Arg) c.821T>G (p.Met274Arg) c.729T>G (p.His243Gln) c.703T>G n.1255T>G c.1079T>G (p.Met360Arg) | |
4 | g.6300865T= | CA1435772311 | WFS1 | c.1106T= (p.Met369=) c.1047T= c.1070T= (p.Met357=) c.821T= (p.Met274=) c.729T= (p.His243=) c.703T= n.1255T= c.1079T= (p.Met360=) | |
4 | g.6300866G>A | CA356174192 | WFS1 | c.1107G>A (p.Met369Ile) c.1048G>A c.1071G>A (p.Met357Ile) c.822G>A (p.Met274Ile) c.730G>A (p.Gly244Ser) c.704G>A n.1256G>A c.1080G>A (p.Met360Ile) | gnomAD v4 |
4 | g.6300866G>C | CA356174193 | WFS1 | c.1107G>C (p.Met369Ile) c.1048G>C c.1071G>C (p.Met357Ile) c.822G>C (p.Met274Ile) c.730G>C (p.Gly244Arg) c.704G>C n.1256G>C c.1080G>C (p.Met360Ile) | |
4 | g.6300866G>T | CA356174194 | WFS1 | c.1107G>T (p.Met369Ile) c.1048G>T c.1071G>T (p.Met357Ile) c.822G>T (p.Met274Ile) c.730G>T (p.Gly244Cys) c.704G>T n.1256G>T c.1080G>T (p.Met360Ile) | |
4 | g.6300867G>A | CA356174195 | WFS1 | c.1108G>A (p.Val370Met) c.1049G>A c.1072G>A (p.Val358Met) c.823G>A (p.Val275Met) c.731G>A (p.Gly244Asp) c.705G>A n.1257G>A c.1081G>A (p.Val361Met) | |
4 | g.6300867G>C | CA91796225 | WFS1 | c.1108G>C (p.Val370Leu) c.1049G>C c.1072G>C (p.Val358Leu) c.823G>C (p.Val275Leu) c.731G>C (p.Gly244Ala) c.705G>C n.1257G>C c.1081G>C (p.Val361Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300867G= | CA1435772312 | WFS1 | c.1108G= (p.Val370=) c.1049G= c.1072G= (p.Val358=) c.823G= (p.Val275=) c.731G= (p.Gly244=) c.705G= n.1257G= c.1081G= (p.Val361=) | |
4 | g.6300867G>T | CA356174196 | WFS1 | c.1108G>T (p.Val370Leu) c.1049G>T c.1072G>T (p.Val358Leu) c.823G>T (p.Val275Leu) c.731G>T (p.Gly244Val) c.705G>T n.1257G>T c.1081G>T (p.Val361Leu) | |
4 | g.6300868T>A | CA356174197 | WFS1 | c.1109T>A (p.Val370Glu) c.1050T>A c.1073T>A (p.Val358Glu) c.824T>A (p.Val275Glu) c.732T>A (p.Gly244=) c.706T>A n.1258T>A c.1082T>A (p.Val361Glu) | |
4 | g.6300868T>C | CA356174198 | WFS1 | c.1109T>C (p.Val370Ala) c.1050T>C c.1073T>C (p.Val358Ala) c.824T>C (p.Val275Ala) c.732T>C (p.Gly244=) c.706T>C n.1258T>C c.1082T>C (p.Val361Ala) | |
4 | g.6300868T>G | CA356174199 | WFS1 | c.1109T>G (p.Val370Gly) c.1050T>G c.1073T>G (p.Val358Gly) c.824T>G (p.Val275Gly) c.732T>G (p.Gly244=) c.706T>G n.1258T>G c.1082T>G (p.Val361Gly) | |
4 | g.6300869del | CA2760284657 | WFS1 | c.1110del (p.Ile371SerfsTer?) c.1051del c.1074del (p.Ile359SerfsTer?) c.825del (p.Ile276SerfsTer?) c.733del (p.Asp245IlefsTer?) c.707del n.1259del c.1083del (p.Ile362SerfsTer?) | |
4 | g.6300869G>A | CA438367935 | WFS1 | c.1110G>A (p.Val370=) c.1051G>A c.1074G>A (p.Val358=) c.825G>A (p.Val275=) c.733G>A (p.Asp245Asn) c.707G>A n.1259G>A c.1083G>A (p.Val361=) | |
4 | g.6300869G>C | CA438367936 | WFS1 | c.1110G>C (p.Val370=) c.1051G>C c.1074G>C (p.Val358=) c.825G>C (p.Val275=) c.733G>C (p.Asp245His) c.707G>C n.1259G>C c.1083G>C (p.Val361=) | |
4 | g.6300869G>T | CA438367937 | WFS1 | c.1110G>T (p.Val370=) c.1051G>T c.1074G>T (p.Val358=) c.825G>T (p.Val275=) c.733G>T (p.Asp245Tyr) c.707G>T n.1259G>T c.1083G>T (p.Val361=) | |
4 | g.6300870A>C | CA356174200 | WFS1 | c.1111A>C (p.Ile371Leu) c.1052A>C c.1075A>C (p.Ile359Leu) c.826A>C (p.Ile276Leu) c.734A>C (p.Asp245Ala) c.708A>C n.1260A>C c.1084A>C (p.Ile362Leu) | |
4 | g.6300870A>G | CA356174201 | WFS1 | c.1111A>G (p.Ile371Val) c.1052A>G c.1075A>G (p.Ile359Val) c.826A>G (p.Ile276Val) c.734A>G (p.Asp245Gly) c.708A>G n.1260A>G c.1084A>G (p.Ile362Val) | |
4 | g.6300870A>T | CA356174202 | WFS1 | c.1111A>T (p.Ile371Phe) c.1052A>T c.1075A>T (p.Ile359Phe) c.826A>T (p.Ile276Phe) c.734A>T (p.Asp245Val) c.708A>T n.1260A>T c.1084A>T (p.Ile362Phe) | |
4 | g.6300871T>A | CA356174205 | WFS1 | c.1112T>A (p.Ile371Asn) c.1053T>A c.1076T>A (p.Ile359Asn) c.827T>A (p.Ile276Asn) c.735T>A (p.Asp245Glu) c.709T>A n.1261T>A c.1085T>A (p.Ile362Asn) | ClinVar dbSNP |
4 | g.6300871T>C | CA356174203 | WFS1 | c.1112T>C (p.Ile371Thr) c.1053T>C c.1076T>C (p.Ile359Thr) c.827T>C (p.Ile276Thr) c.735T>C (p.Asp245=) c.709T>C n.1261T>C c.1085T>C (p.Ile362Thr) | |
4 | g.6300871T>G | CA356174204 | WFS1 | c.1112T>G (p.Ile371Ser) c.1053T>G c.1076T>G (p.Ile359Ser) c.827T>G (p.Ile276Ser) c.735T>G (p.Asp245Glu) c.709T>G n.1261T>G c.1085T>G (p.Ile362Ser) | |
4 | g.6300871_6300874del | CA2760284658 | WFS1 | c.1112_1115del (p.Ile371ThrfsTer?) c.1053_1056del c.1076_1079del (p.Ile359ThrfsTer?) c.827_830del (p.Ile276ThrfsTer?) c.735_738del (p.Leu246ThrfsTer?) c.709_712del n.1261_1264del c.1085_1088del (p.Ile362ThrfsTer?) | |
4 | g.6300872C>A | CA438367941 | WFS1 | c.1113C>A (p.Ile371=) c.1054C>A c.1077C>A (p.Ile359=) c.828C>A (p.Ile276=) c.736C>A (p.Leu246Met) c.710C>A n.1262C>A c.1086C>A (p.Ile362=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300872C= | CA1435772315 | WFS1 | c.1113C= (p.Ile371=) c.1054C= c.1077C= (p.Ile359=) c.828C= (p.Ile276=) c.736C= (p.Leu246=) c.710C= n.1262C= c.1086C= (p.Ile362=) | |
4 | g.6300872C>G | CA356174206 | WFS1 | c.1113C>G (p.Ile371Met) c.1054C>G c.1077C>G (p.Ile359Met) c.828C>G (p.Ile276Met) c.736C>G (p.Leu246Val) c.710C>G n.1262C>G c.1086C>G (p.Ile362Met) | gnomAD v4 |
4 | g.6300872C>T | CA438367942 | WFS1 | c.1113C>T (p.Ile371=) c.1054C>T c.1077C>T (p.Ile359=) c.828C>T (p.Ile276=) c.736C>T (p.Leu246=) c.710C>T n.1262C>T c.1086C>T (p.Ile362=) | dbSNP gnomAD v4 |
4 | g.6300873T>A | CA356174207 | WFS1 | c.1114T>A (p.Cys372Ser) c.1055T>A c.1078T>A (p.Cys360Ser) c.829T>A (p.Cys277Ser) c.737T>A (p.Leu246Gln) c.711T>A n.1263T>A c.1087T>A (p.Cys363Ser) | |
4 | g.6300873T>C | CA356174208 | WFS1 | c.1114T>C (p.Cys372Arg) c.1055T>C c.1078T>C (p.Cys360Arg) c.829T>C (p.Cys277Arg) c.737T>C (p.Leu246Pro) c.711T>C n.1263T>C c.1087T>C (p.Cys363Arg) | ClinVar gnomAD v4 |
4 | g.6300873T>G | CA91796226 | WFS1 | c.1114T>G (p.Cys372Gly) c.1055T>G c.1078T>G (p.Cys360Gly) c.829T>G (p.Cys277Gly) c.737T>G (p.Leu246Arg) c.711T>G n.1263T>G c.1087T>G (p.Cys363Gly) | dbSNP gnomAD v4 |
4 | g.6300873T= | CA1435772316 | WFS1 | c.1114T= (p.Cys372=) c.1055T= c.1078T= (p.Cys360=) c.829T= (p.Cys277=) c.737T= (p.Leu246=) c.711T= n.1263T= c.1087T= (p.Cys363=) | |
4 | g.6300874G>A | CA2839211 | WFS1 | c.1115G>A (p.Cys372Tyr) c.1056G>A c.1079G>A (p.Cys360Tyr) c.830G>A (p.Cys277Tyr) c.738G>A (p.Leu246=) c.712G>A n.1264G>A c.1088G>A (p.Cys363Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300874G>C | CA356174209 | WFS1 | c.1115G>C (p.Cys372Ser) c.1056G>C c.1079G>C (p.Cys360Ser) c.830G>C (p.Cys277Ser) c.738G>C (p.Leu246=) c.712G>C n.1264G>C c.1088G>C (p.Cys363Ser) | gnomAD v4 |
4 | g.6300874G= | CA1435772319 | WFS1 | c.1115G= (p.Cys372=) c.1056G= c.1079G= (p.Cys360=) c.830G= (p.Cys277=) c.738G= (p.Leu246=) c.712G= n.1264G= c.1088G= (p.Cys363=) | |
4 | g.6300874G>T | CA356174210 | WFS1 | c.1115G>T (p.Cys372Phe) c.1056G>T c.1079G>T (p.Cys360Phe) c.830G>T (p.Cys277Phe) c.738G>T (p.Leu246=) c.712G>T n.1264G>T c.1088G>T (p.Cys363Phe) | |
4 | g.6300875C>A | CA356174211 | WFS1 | c.1116C>A (p.Cys372Ter) c.1057C>A c.1080C>A (p.Cys360Ter) c.831C>A (p.Cys277Ter) c.739C>A (p.His247Asn) c.713C>A n.1265C>A c.1089C>A (p.Cys363Ter) | |
4 | g.6300875C= | CA1435772321 | WFS1 | c.1116C= (p.Cys372=) c.1057C= c.1080C= (p.Cys360=) c.831C= (p.Cys277=) c.739C= (p.His247=) c.713C= n.1265C= c.1089C= (p.Cys363=) | |
4 | g.6300875C>G | CA356174212 | WFS1 | c.1116C>G (p.Cys372Trp) c.1057C>G c.1080C>G (p.Cys360Trp) c.831C>G (p.Cys277Trp) c.739C>G (p.His247Asp) c.713C>G n.1265C>G c.1089C>G (p.Cys363Trp) | |
4 | g.6300875C>T | CA2839212 | WFS1 | c.1116C>T (p.Cys372=) c.1057C>T c.1080C>T (p.Cys360=) c.831C>T (p.Cys277=) c.739C>T (p.His247Tyr) c.713C>T n.1265C>T c.1089C>T (p.Cys363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300876A>C | CA356174215 | WFS1 | c.1117A>C (p.Thr373Pro) c.1058A>C c.1081A>C (p.Thr361Pro) c.832A>C (p.Thr278Pro) c.740A>C (p.His247Pro) c.714A>C n.1266A>C c.1090A>C (p.Thr364Pro) | |
4 | g.6300876A>G | CA356174214 | WFS1 | c.1117A>G (p.Thr373Ala) c.1058A>G c.1081A>G (p.Thr361Ala) c.832A>G (p.Thr278Ala) c.740A>G (p.His247Arg) c.714A>G n.1266A>G c.1090A>G (p.Thr364Ala) | |
4 | g.6300876A>T | CA356174213 | WFS1 | c.1117A>T (p.Thr373Ser) c.1058A>T c.1081A>T (p.Thr361Ser) c.832A>T (p.Thr278Ser) c.740A>T (p.His247Leu) c.714A>T n.1266A>T c.1090A>T (p.Thr364Ser) | |
4 | g.6300877C>A | CA356174216 | WFS1 | c.1118C>A (p.Thr373Asn) c.1059C>A c.1082C>A (p.Thr361Asn) c.833C>A (p.Thr278Asn) c.741C>A (p.His247Gln) c.715C>A n.1267C>A c.1091C>A (p.Thr364Asn) | dbSNP gnomAD v4 |
4 | g.6300877C= | CA1435772323 | WFS1 | c.1118C= (p.Thr373=) c.1059C= c.1082C= (p.Thr361=) c.833C= (p.Thr278=) c.741C= (p.His247=) c.715C= n.1267C= c.1091C= (p.Thr364=) | |
4 | g.6300877C>G | CA356174217 | WFS1 | c.1118C>G (p.Thr373Ser) c.1059C>G c.1082C>G (p.Thr361Ser) c.833C>G (p.Thr278Ser) c.741C>G (p.His247Gln) c.715C>G n.1267C>G c.1091C>G (p.Thr364Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.6300877C>T | CA2839213 | WFS1 | c.1118C>T (p.Thr373Ile) c.1059C>T c.1082C>T (p.Thr361Ile) c.833C>T (p.Thr278Ile) c.741C>T (p.His247=) c.715C>T n.1267C>T c.1091C>T (p.Thr364Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6300878C>A | CA438367945 | WFS1 | c.1119C>A (p.Thr373=) c.1060C>A c.1083C>A (p.Thr361=) c.834C>A (p.Thr278=) c.742C>A (p.Pro248Thr) c.716C>A n.1268C>A c.1092C>A (p.Thr364=) | |
4 | g.6300878C= | CA1435772324 | WFS1 | c.1119C= (p.Thr373=) c.1060C= c.1083C= (p.Thr361=) c.834C= (p.Thr278=) c.742C= (p.Pro248=) c.716C= n.1268C= c.1092C= (p.Thr364=) | |
4 | g.6300878C>G | CA438367947 | WFS1 | c.1119C>G (p.Thr373=) c.1060C>G c.1083C>G (p.Thr361=) c.834C>G (p.Thr278=) c.742C>G (p.Pro248Ala) c.716C>G n.1268C>G c.1092C>G (p.Thr364=) | |
4 | g.6300878C>T | CA438367946 | WFS1 | c.1119C>T (p.Thr373=) c.1060C>T c.1083C>T (p.Thr361=) c.834C>T (p.Thr278=) c.742C>T (p.Pro248Ser) c.716C>T n.1268C>T c.1092C>T (p.Thr364=) | dbSNP gnomAD v4 |
4 | g.6300879C>A | CA356174218 | WFS1 | c.1120C>A (p.Leu374Ile) c.1061C>A c.1084C>A (p.Leu362Ile) c.835C>A (p.Leu279Ile) c.743C>A (p.Pro248His) c.717C>A n.1269C>A c.1093C>A (p.Leu365Ile) | |
4 | g.6300879C= | CA1435772326 | WFS1 | c.1120C= (p.Leu374=) c.1061C= c.1084C= (p.Leu362=) c.835C= (p.Leu279=) c.743C= (p.Pro248=) c.717C= n.1269C= c.1093C= (p.Leu365=) | |
4 | g.6300879C>G | CA2839214 | WFS1 | c.1120C>G (p.Leu374Val) c.1061C>G c.1084C>G (p.Leu362Val) c.835C>G (p.Leu279Val) c.743C>G (p.Pro248Arg) c.717C>G n.1269C>G c.1093C>G (p.Leu365Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300879C>T | CA2839215 | WFS1 | c.1120C>T (p.Leu374Phe) c.1061C>T c.1084C>T (p.Leu362Phe) c.835C>T (p.Leu279Phe) c.743C>T (p.Pro248Leu) c.717C>T n.1269C>T c.1093C>T (p.Leu365Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300880T>A | CA356174219 | WFS1 | c.1121T>A (p.Leu374His) c.1062T>A c.1085T>A (p.Leu362His) c.836T>A (p.Leu279His) c.744T>A (p.Pro248=) c.718T>A n.1270T>A c.1094T>A (p.Leu365His) | |
4 | g.6300880T>C | CA356174220 | WFS1 | c.1121T>C (p.Leu374Pro) c.1062T>C c.1085T>C (p.Leu362Pro) c.836T>C (p.Leu279Pro) c.744T>C (p.Pro248=) c.718T>C n.1270T>C c.1094T>C (p.Leu365Pro) | |
4 | g.6300880T>G | CA356174221 | WFS1 | c.1121T>G (p.Leu374Arg) c.1062T>G c.1085T>G (p.Leu362Arg) c.836T>G (p.Leu279Arg) c.744T>G (p.Pro248=) c.718T>G n.1270T>G c.1094T>G (p.Leu365Arg) | |
4 | g.6300881C>A | CA438367948 | WFS1 | c.1122C>A (p.Leu374=) c.1063C>A c.1086C>A (p.Leu362=) c.837C>A (p.Leu279=) c.745C>A (p.Gln249Lys) c.719C>A n.1271C>A c.1095C>A (p.Leu365=) | |
4 | g.6300881C= | CA1435772327 | WFS1 | c.1122C= (p.Leu374=) c.1063C= c.1086C= (p.Leu362=) c.837C= (p.Leu279=) c.745C= (p.Gln249=) c.719C= n.1271C= c.1095C= (p.Leu365=) | |
4 | g.6300881C>G | CA2839216 | WFS1 | c.1122C>G (p.Leu374=) c.1063C>G c.1086C>G (p.Leu362=) c.837C>G (p.Leu279=) c.745C>G (p.Gln249Glu) c.719C>G n.1271C>G c.1095C>G (p.Leu365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300881C>T | CA438367950 | WFS1 | c.1122C>T (p.Leu374=) c.1063C>T c.1086C>T (p.Leu362=) c.837C>T (p.Leu279=) c.745C>T (p.Gln249Ter) c.719C>T n.1271C>T c.1095C>T (p.Leu365=) | |
4 | g.6300882A>C | CA356174222 | WFS1 | c.1123A>C (p.Lys375Gln) c.1064A>C c.1087A>C (p.Lys363Gln) c.838A>C (p.Lys280Gln) c.746A>C (p.Gln249Pro) c.720A>C n.1272A>C c.1096A>C (p.Lys366Gln) | |
4 | g.6300882A>G | CA356174223 | WFS1 | c.1123A>G (p.Lys375Glu) c.1064A>G c.1087A>G (p.Lys363Glu) c.838A>G (p.Lys280Glu) c.746A>G (p.Gln249Arg) c.720A>G n.1272A>G c.1096A>G (p.Lys366Glu) | |
4 | g.6300882A>T | CA356174224 | WFS1 | c.1123A>T (p.Lys375Ter) c.1064A>T c.1087A>T (p.Lys363Ter) c.838A>T (p.Lys280Ter) c.746A>T (p.Gln249Leu) c.720A>T n.1272A>T c.1096A>T (p.Lys366Ter) | gnomAD v4 |
4 | g.6300883dup | CA549707896 | WFS1 | c.1124dup (p.Val376GlyfsTer?) c.1065dup c.1088dup (p.Val364GlyfsTer?) c.839dup (p.Val281GlyfsTer?) c.747dup (p.Gly250ArgfsTer?) c.721dup n.1273dup c.1097dup (p.Val367GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300883A= | CA1435772330 | WFS1 | c.1124A= (p.Lys375=) c.1065A= c.1088A= (p.Lys363=) c.839A= (p.Lys280=) c.747A= (p.Gln249=) c.721A= n.1273A= c.1097A= (p.Lys366=) | |
4 | g.6300883A>C | CA356174225 | WFS1 | c.1124A>C (p.Lys375Thr) c.1065A>C c.1088A>C (p.Lys363Thr) c.839A>C (p.Lys280Thr) c.747A>C (p.Gln249His) c.721A>C n.1273A>C c.1097A>C (p.Lys366Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300883A>G | CA356174227 | WFS1 | c.1124A>G (p.Lys375Arg) c.1065A>G c.1088A>G (p.Lys363Arg) c.839A>G (p.Lys280Arg) c.747A>G (p.Gln249=) c.721A>G n.1273A>G c.1097A>G (p.Lys366Arg) | |
4 | g.6300883A>T | CA356174226 | WFS1 | c.1124A>T (p.Lys375Met) c.1065A>T c.1088A>T (p.Lys363Met) c.839A>T (p.Lys280Met) c.747A>T (p.Gln249His) c.721A>T n.1273A>T c.1097A>T (p.Lys366Met) | |
4 | g.6300884G>A | CA438367952 | WFS1 | c.1125G>A (p.Lys375=) c.1066G>A c.1089G>A (p.Lys363=) c.840G>A (p.Lys280=) c.748G>A (p.Gly250Ser) c.722G>A n.1274G>A c.1098G>A (p.Lys366=) | ClinVar dbSNP |
4 | g.6300884G>C | CA356174228 | WFS1 | c.1125G>C (p.Lys375Asn) c.1066G>C c.1089G>C (p.Lys363Asn) c.840G>C (p.Lys280Asn) c.748G>C (p.Gly250Arg) c.722G>C n.1274G>C c.1098G>C (p.Lys366Asn) | gnomAD v4 |
4 | g.6300884G= | CA1435772333 | WFS1 | c.1125G= (p.Lys375=) c.1066G= c.1089G= (p.Lys363=) c.840G= (p.Lys280=) c.748G= (p.Gly250=) c.722G= n.1274G= c.1098G= (p.Lys366=) | |
4 | g.6300884G>T | CA356174229 | WFS1 | c.1125G>T (p.Lys375Asn) c.1066G>T c.1089G>T (p.Lys363Asn) c.840G>T (p.Lys280Asn) c.748G>T (p.Gly250Cys) c.722G>T n.1274G>T c.1098G>T (p.Lys366Asn) | |
4 | g.6300885G>A | CA356174230 | WFS1 | c.1126G>A (p.Val376Met) c.1067G>A c.1090G>A (p.Val364Met) c.841G>A (p.Val281Met) c.749G>A (p.Gly250Asp) c.723G>A n.1275G>A c.1099G>A (p.Val367Met) | COSMIC |
4 | g.6300885G>C | CA356174231 | WFS1 | c.1126G>C (p.Val376Leu) c.1067G>C c.1090G>C (p.Val364Leu) c.841G>C (p.Val281Leu) c.749G>C (p.Gly250Ala) c.723G>C n.1275G>C c.1099G>C (p.Val367Leu) | gnomAD v4 |
4 | g.6300885G>T | CA356174232 | WFS1 | c.1126G>T (p.Val376Leu) c.1067G>T c.1090G>T (p.Val364Leu) c.841G>T (p.Val281Leu) c.749G>T (p.Gly250Val) c.723G>T n.1275G>T c.1099G>T (p.Val367Leu) | |
4 | g.6300886T>A | CA356174233 | WFS1 | c.1127T>A (p.Val376Glu) c.1068T>A c.1091T>A (p.Val364Glu) c.842T>A (p.Val281Glu) c.750T>A (p.Gly250=) c.724T>A n.1276T>A c.1100T>A (p.Val367Glu) | |
4 | g.6300886T>C | CA356174234 | WFS1 | c.1127T>C (p.Val376Ala) c.1068T>C c.1091T>C (p.Val364Ala) c.842T>C (p.Val281Ala) c.750T>C (p.Gly250=) c.724T>C n.1276T>C c.1100T>C (p.Val367Ala) | |
4 | g.6300886T>G | CA356174235 | WFS1 | c.1127T>G (p.Val376Gly) c.1068T>G c.1091T>G (p.Val364Gly) c.842T>G (p.Val281Gly) c.750T>G (p.Gly250=) c.724T>G n.1276T>G c.1100T>G (p.Val367Gly) | |
4 | g.6300887G>A | CA438367957 | WFS1 | c.1128G>A (p.Val376=) c.1069G>A c.1092G>A (p.Val364=) c.843G>A (p.Val281=) c.751G>A (p.Val251Ile) c.725G>A n.1277G>A c.1101G>A (p.Val367=) | |
4 | g.6300887G>C | CA438367955 | WFS1 | c.1128G>C (p.Val376=) c.1069G>C c.1092G>C (p.Val364=) c.843G>C (p.Val281=) c.751G>C (p.Val251Leu) c.725G>C n.1277G>C c.1101G>C (p.Val367=) | |
4 | g.6300887G>T | CA438367954 | WFS1 | c.1128G>T (p.Val376=) c.1069G>T c.1092G>T (p.Val364=) c.843G>T (p.Val281=) c.751G>T (p.Val251Phe) c.725G>T n.1277G>T c.1101G>T (p.Val367=) | |
4 | g.6300888T>A | CA356174236 | WFS1 | c.1129T>A (p.Phe377Ile) c.1070T>A c.1093T>A (p.Phe365Ile) c.844T>A (p.Phe282Ile) c.752T>A (p.Val251Asp) c.726T>A n.1278T>A c.1102T>A (p.Phe368Ile) | |
4 | g.6300888T>C | CA356174237 | WFS1 | c.1129T>C (p.Phe377Leu) c.1070T>C c.1093T>C (p.Phe365Leu) c.844T>C (p.Phe282Leu) c.752T>C (p.Val251Ala) c.726T>C n.1278T>C c.1102T>C (p.Phe368Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300888T>G | CA91796227 | WFS1 | c.1129T>G (p.Phe377Val) c.1070T>G c.1093T>G (p.Phe365Val) c.844T>G (p.Phe282Val) c.752T>G (p.Val251Gly) c.726T>G n.1278T>G c.1102T>G (p.Phe368Val) | dbSNP gnomAD v4 |
4 | g.6300888T= | CA1435772335 | WFS1 | c.1129T= (p.Phe377=) c.1070T= c.1093T= (p.Phe365=) c.844T= (p.Phe282=) c.752T= (p.Val251=) c.726T= n.1278T= c.1102T= (p.Phe368=) | |
4 | g.6300889T>A | CA356174241 | WFS1 | c.1130T>A (p.Phe377Tyr) c.1071T>A c.1094T>A (p.Phe365Tyr) c.845T>A (p.Phe282Tyr) c.753T>A (p.Val251=) c.727T>A n.1279T>A c.1103T>A (p.Phe368Tyr) | |
4 | g.6300889T>C | CA356174242 | WFS1 | c.1130T>C (p.Phe377Ser) c.1071T>C c.1094T>C (p.Phe365Ser) c.845T>C (p.Phe282Ser) c.753T>C (p.Val251=) c.727T>C n.1279T>C c.1103T>C (p.Phe368Ser) | ClinVar gnomAD v4 |
4 | g.6300889T>G | CA356174239 | WFS1 | c.1130T>G (p.Phe377Cys) c.1071T>G c.1094T>G (p.Phe365Cys) c.845T>G (p.Phe282Cys) c.753T>G (p.Val251=) c.727T>G n.1279T>G c.1103T>G (p.Phe368Cys) | |
4 | g.6300890C>A | CA356174244 | WFS1 | c.1131C>A (p.Phe377Leu) c.1072C>A c.1095C>A (p.Phe365Leu) c.846C>A (p.Phe282Leu) c.754C>A (p.Pro252Thr) c.728C>A n.1280C>A c.1104C>A (p.Phe368Leu) | |
4 | g.6300890C>G | CA356174243 | WFS1 | c.1131C>G (p.Phe377Leu) c.1072C>G c.1095C>G (p.Phe365Leu) c.846C>G (p.Phe282Leu) c.754C>G (p.Pro252Ala) c.728C>G n.1280C>G c.1104C>G (p.Phe368Leu) | |
4 | g.6300890C>T | CA438367962 | WFS1 | c.1131C>T (p.Phe377=) c.1072C>T c.1095C>T (p.Phe365=) c.846C>T (p.Phe282=) c.754C>T (p.Pro252Ser) c.728C>T n.1280C>T c.1104C>T (p.Phe368=) | |
4 | g.6300891C>A | CA356174246 | WFS1 | c.1132C>A (p.Gln378Lys) c.1073C>A c.1096C>A (p.Gln366Lys) c.847C>A (p.Gln283Lys) c.755C>A (p.Pro252Gln) c.729C>A n.1281C>A c.1105C>A (p.Gln369Lys) | |
4 | g.6300891C= | CA1435772337 | WFS1 | c.1132C= (p.Gln378=) c.1073C= c.1096C= (p.Gln366=) c.847C= (p.Gln283=) c.755C= (p.Pro252=) c.729C= n.1281C= c.1105C= (p.Gln369=) | |
4 | g.6300891C>G | CA356174245 | WFS1 | c.1132C>G (p.Gln378Glu) c.1073C>G c.1096C>G (p.Gln366Glu) c.847C>G (p.Gln283Glu) c.755C>G (p.Pro252Arg) c.729C>G n.1281C>G c.1105C>G (p.Gln369Glu) | |
4 | g.6300891C>T | CA2839217 | WFS1 | c.1132C>T (p.Gln378Ter) c.1073C>T c.1096C>T (p.Gln366Ter) c.847C>T (p.Gln283Ter) c.755C>T (p.Pro252Leu) c.729C>T n.1281C>T c.1105C>T (p.Gln369Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300892A>C | CA356174247 | WFS1 | c.1133A>C (p.Gln378Pro) c.1074A>C c.1097A>C (p.Gln366Pro) c.848A>C (p.Gln283Pro) c.756A>C (p.Pro252=) c.730A>C n.1282A>C c.1106A>C (p.Gln369Pro) | |
4 | g.6300892A>G | CA356174248 | WFS1 | c.1133A>G (p.Gln378Arg) c.1074A>G c.1097A>G (p.Gln366Arg) c.848A>G (p.Gln283Arg) c.756A>G (p.Pro252=) c.730A>G n.1282A>G c.1106A>G (p.Gln369Arg) | |
4 | g.6300892A>T | CA356174249 | WFS1 | c.1133A>T (p.Gln378Leu) c.1074A>T c.1097A>T (p.Gln366Leu) c.848A>T (p.Gln283Leu) c.756A>T (p.Pro252=) c.730A>T n.1282A>T c.1106A>T (p.Gln369Leu) | |
4 | g.6300892_6300902dup | CA2586973607 | WFS1 | c.1133_1143dup (p.Ala382ArgfsTer?) c.1074_1084dup c.1097_1107dup (p.Ala370ArgfsTer?) c.848_858dup (p.Ala287ArgfsTer?) c.756_766dup (p.Gly256GlufsTer?) c.730_740dup n.1282_1292dup c.1106_1116dup (p.Ala373ArgfsTer?) | |
4 | g.6300893G>A | CA438367964 | WFS1 | c.1134G>A (p.Gln378=) c.1075G>A c.1098G>A (p.Gln366=) c.849G>A (p.Gln283=) c.757G>A (p.Gly253Arg) c.731G>A n.1283G>A c.1107G>A (p.Gln369=) | |
4 | g.6300893G>C | CA356174250 | WFS1 | c.1134G>C (p.Gln378His) c.1075G>C c.1098G>C (p.Gln366His) c.849G>C (p.Gln283His) c.757G>C (p.Gly253Arg) c.731G>C n.1283G>C c.1107G>C (p.Gln369His) | |
4 | g.6300893G>T | CA356174251 | WFS1 | c.1134G>T (p.Gln378His) c.1075G>T c.1098G>T (p.Gln366His) c.849G>T (p.Gln283His) c.757G>T (p.Gly253Ter) c.731G>T n.1283G>T c.1107G>T (p.Gln369His) | gnomAD v4 |
4 | g.6300894G>A | CA10618995 | WFS1 | c.1135G>A (p.Asp379Asn) c.1076G>A c.1099G>A (p.Asp367Asn) c.850G>A (p.Asp284Asn) c.758G>A (p.Gly253Glu) c.732G>A n.1284G>A c.1108G>A (p.Asp370Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300894G>C | CA356174252 | WFS1 | c.1135G>C (p.Asp379His) c.1076G>C c.1099G>C (p.Asp367His) c.850G>C (p.Asp284His) c.758G>C (p.Gly253Ala) c.732G>C n.1284G>C c.1108G>C (p.Asp370His) | |
4 | g.6300894G= | CA1435772339 | WFS1 | c.1135G= (p.Asp379=) c.1076G= c.1099G= (p.Asp367=) c.850G= (p.Asp284=) c.758G= (p.Gly253=) c.732G= n.1284G= c.1108G= (p.Asp370=) | |
4 | g.6300894G>T | CA356174253 | WFS1 | c.1135G>T (p.Asp379Tyr) c.1076G>T c.1099G>T (p.Asp367Tyr) c.850G>T (p.Asp284Tyr) c.758G>T (p.Gly253Val) c.732G>T n.1284G>T c.1108G>T (p.Asp370Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300895A= | CA1435772342 | WFS1 | c.1136A= (p.Asp379=) c.1077A= c.1100A= (p.Asp367=) c.851A= (p.Asp284=) c.759A= (p.Gly253=) c.733A= n.1285A= c.1109A= (p.Asp370=) | |
4 | g.6300895A>C | CA356174254 | WFS1 | c.1136A>C (p.Asp379Ala) c.1077A>C c.1100A>C (p.Asp367Ala) c.851A>C (p.Asp284Ala) c.759A>C (p.Gly253=) c.733A>C n.1285A>C c.1109A>C (p.Asp370Ala) | |
4 | g.6300895A>G | CA2839218 | WFS1 | c.1136A>G (p.Asp379Gly) c.1077A>G c.1100A>G (p.Asp367Gly) c.851A>G (p.Asp284Gly) c.759A>G (p.Gly253=) c.733A>G n.1285A>G c.1109A>G (p.Asp370Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300895A>T | CA356174255 | WFS1 | c.1136A>T (p.Asp379Val) c.1077A>T c.1100A>T (p.Asp367Val) c.851A>T (p.Asp284Val) c.759A>T (p.Gly253=) c.733A>T n.1285A>T c.1109A>T (p.Asp370Val) | |
4 | g.6300896C>A | CA356174256 | WFS1 | c.1137C>A (p.Asp379Glu) c.1078C>A c.1101C>A (p.Asp367Glu) c.852C>A (p.Asp284Glu) c.760C>A (p.Gln254Lys) c.734C>A n.1286C>A c.1110C>A (p.Asp370Glu) | |
4 | g.6300896C= | CA1435772344 | WFS1 | c.1137C= (p.Asp379=) c.1078C= c.1101C= (p.Asp367=) c.852C= (p.Asp284=) c.760C= (p.Gln254=) c.734C= n.1286C= c.1110C= (p.Asp370=) | |
4 | g.6300896C>G | CA356174257 | WFS1 | c.1137C>G (p.Asp379Glu) c.1078C>G c.1101C>G (p.Asp367Glu) c.852C>G (p.Asp284Glu) c.760C>G (p.Gln254Glu) c.734C>G n.1286C>G c.1110C>G (p.Asp370Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300896C>T | CA438367969 | WFS1 | c.1137C>T (p.Asp379=) c.1078C>T c.1101C>T (p.Asp367=) c.852C>T (p.Asp284=) c.760C>T (p.Gln254Ter) c.734C>T n.1286C>T c.1110C>T (p.Asp370=) | dbSNP gnomAD v4 |
4 | g.6300896_6300897insT | CA2840049495 | WFS1 | c.1137_1138insT (p.Ser380Ter) c.1078_1079insT c.1101_1102insT (p.Ser368Ter) c.852_853insT (p.Ser285Ter) c.760_761insT (p.Gln254LeufsTer?) c.734_735insT n.1286_1287insT c.1110_1111insT (p.Ser371Ter) | |
4 | g.6300897A>C | CA356174258 | WFS1 | c.1138A>C (p.Ser380Arg) c.1079A>C c.1102A>C (p.Ser368Arg) c.853A>C (p.Ser285Arg) c.761A>C (p.Gln254Pro) c.735A>C n.1287A>C c.1111A>C (p.Ser371Arg) | |
4 | g.6300897A>G | CA356174259 | WFS1 | c.1138A>G (p.Ser380Gly) c.1079A>G c.1102A>G (p.Ser368Gly) c.853A>G (p.Ser285Gly) c.761A>G (p.Gln254Arg) c.735A>G n.1287A>G c.1111A>G (p.Ser371Gly) | ClinVar |
4 | g.6300897A>T | CA356174260 | WFS1 | c.1138A>T (p.Ser380Cys) c.1079A>T c.1102A>T (p.Ser368Cys) c.853A>T (p.Ser285Cys) c.761A>T (p.Gln254Leu) c.735A>T n.1287A>T c.1111A>T (p.Ser371Cys) | |
4 | g.6300898G>A | CA136326 | WFS1 | c.1139G>A (p.Ser380Asn) c.1080G>A c.1103G>A (p.Ser368Asn) c.854G>A (p.Ser285Asn) c.762G>A (p.Gln254=) c.736G>A n.1288G>A c.1112G>A (p.Ser371Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300898G>C | CA356174261 | WFS1 | c.1139G>C (p.Ser380Thr) c.1080G>C c.1103G>C (p.Ser368Thr) c.854G>C (p.Ser285Thr) c.762G>C (p.Gln254His) c.736G>C n.1288G>C c.1112G>C (p.Ser371Thr) | dbSNP gnomAD v4 |
4 | g.6300898G= | CA1435772347 | WFS1 | c.1139G= (p.Ser380=) c.1080G= c.1103G= (p.Ser368=) c.854G= (p.Ser285=) c.762G= (p.Gln254=) c.736G= n.1288G= c.1112G= (p.Ser371=) | |
4 | g.6300898G>T | CA356174262 | WFS1 | c.1139G>T (p.Ser380Ile) c.1080G>T c.1103G>T (p.Ser368Ile) c.854G>T (p.Ser285Ile) c.762G>T (p.Gln254His) c.736G>T n.1288G>T c.1112G>T (p.Ser371Ile) | |
4 | g.6300900_6300904dup | CA2586973608 | WFS1 | c.1141_1145dup (p.Trp383ArgfsTer?) c.1082_1086dup c.1105_1109dup (p.Trp371ArgfsTer?) c.856_860dup (p.Trp288ArgfsTer?) c.764_768dup (p.Leu257LysfsTer?) c.738_742dup n.1290_1294dup c.1114_1118dup (p.Trp374ArgfsTer?) | |
4 | g.6300899C>A | CA356174263 | WFS1 | c.1140C>A (p.Ser380Arg) c.1081C>A c.1104C>A (p.Ser368Arg) c.855C>A (p.Ser285Arg) c.763C>A (p.Gln255Lys) c.737C>A n.1289C>A c.1113C>A (p.Ser371Arg) | |
4 | g.6300899C= | CA1435772349 | WFS1 | c.1140C= (p.Ser380=) c.1081C= c.1104C= (p.Ser368=) c.855C= (p.Ser285=) c.763C= (p.Gln255=) c.737C= n.1289C= c.1113C= (p.Ser371=) | |
4 | g.6300899C>G | CA2839219 | WFS1 | c.1140C>G (p.Ser380Arg) c.1081C>G c.1104C>G (p.Ser368Arg) c.855C>G (p.Ser285Arg) c.763C>G (p.Gln255Glu) c.737C>G n.1289C>G c.1113C>G (p.Ser371Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300899C>T | CA438367971 | WFS1 | c.1140C>T (p.Ser380=) c.1081C>T c.1104C>T (p.Ser368=) c.855C>T (p.Ser285=) c.763C>T (p.Gln255Ter) c.737C>T n.1289C>T c.1113C>T (p.Ser371=) | |
4 | g.6300899_6300900insT | CA549707897 | WFS1 | c.1140_1141insT (p.Lys381Ter) c.1081_1082insT c.1104_1105insT (p.Lys369Ter) c.855_856insT (p.Lys286Ter) c.763_764insT (p.Gln255LeufsTer?) c.737_738insT n.1289_1290insT c.1113_1114insT (p.Lys372Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300900A>C | CA356174264 | WFS1 | c.1141A>C (p.Lys381Gln) c.1082A>C c.1105A>C (p.Lys369Gln) c.856A>C (p.Lys286Gln) c.764A>C (p.Gln255Pro) c.738A>C n.1290A>C c.1114A>C (p.Lys372Gln) | |
4 | g.6300900A>G | CA356174265 | WFS1 | c.1141A>G (p.Lys381Glu) c.1082A>G c.1105A>G (p.Lys369Glu) c.856A>G (p.Lys286Glu) c.764A>G (p.Gln255Arg) c.738A>G n.1290A>G c.1114A>G (p.Lys372Glu) | |
4 | g.6300900A>T | CA356174266 | WFS1 | c.1141A>T (p.Lys381Ter) c.1082A>T c.1105A>T (p.Lys369Ter) c.856A>T (p.Lys286Ter) c.764A>T (p.Gln255Leu) c.738A>T n.1290A>T c.1114A>T (p.Lys372Ter) | |
4 | g.6300901del | CA2840049496 | WFS1 | c.1142del (p.Lys381ArgfsTer?) c.1083del c.1106del (p.Lys369ArgfsTer?) c.857del (p.Lys286ArgfsTer?) c.765del (p.Gly256AlafsTer?) c.739del n.1291del c.1115del (p.Lys372ArgfsTer?) | |
4 | g.6300901A= | CA1435772352 | WFS1 | c.1142A= (p.Lys381=) c.1083A= c.1106A= (p.Lys369=) c.857A= (p.Lys286=) c.765A= (p.Gln255=) c.739A= n.1291A= c.1115A= (p.Lys372=) | |
4 | g.6300901A>C | CA322697 | WFS1 | c.1142A>C (p.Lys381Thr) c.1083A>C c.1106A>C (p.Lys369Thr) c.857A>C (p.Lys286Thr) c.765A>C (p.Gln255His) c.739A>C n.1291A>C c.1115A>C (p.Lys372Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300901A>G | CA356174268 | WFS1 | c.1142A>G (p.Lys381Arg) c.1083A>G c.1106A>G (p.Lys369Arg) c.857A>G (p.Lys286Arg) c.765A>G (p.Gln255=) c.739A>G n.1291A>G c.1115A>G (p.Lys372Arg) | |
4 | g.6300901A>T | CA356174267 | WFS1 | c.1142A>T (p.Lys381Met) c.1083A>T c.1106A>T (p.Lys369Met) c.857A>T (p.Lys286Met) c.765A>T (p.Gln255His) c.739A>T n.1291A>T c.1115A>T (p.Lys372Met) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300902G>A | CA438367973 | WFS1 | c.1143G>A (p.Lys381=) c.1084G>A c.1107G>A (p.Lys369=) c.858G>A (p.Lys286=) c.766G>A (p.Gly256Ser) c.740G>A n.1292G>A c.1116G>A (p.Lys372=) | gnomAD v4 |
4 | g.6300902G>C | CA356174269 | WFS1 | c.1143G>C (p.Lys381Asn) c.1084G>C c.1107G>C (p.Lys369Asn) c.858G>C (p.Lys286Asn) c.766G>C (p.Gly256Arg) c.740G>C n.1292G>C c.1116G>C (p.Lys372Asn) | |
4 | g.6300902G>T | CA356174270 | WFS1 | c.1143G>T (p.Lys381Asn) c.1084G>T c.1107G>T (p.Lys369Asn) c.858G>T (p.Lys286Asn) c.766G>T (p.Gly256Cys) c.740G>T n.1292G>T c.1116G>T (p.Lys372Asn) | |
4 | g.6300902_6300903insA | CA2499217322 | WFS1 | c.1143_1144insA (p.Ala382SerfsTer?) c.1084_1085insA c.1107_1108insA (p.Ala370SerfsTer?) c.858_859insA (p.Ala287SerfsTer?) c.766_767insA (p.Gly256GlufsTer?) c.740_741insA n.1292_1293insA c.1116_1117insA (p.Ala373SerfsTer?) | ClinVar dbSNP gnomAD v4 |
4 | g.6300903G>A | CA2839220 | WFS1 | c.1144G>A (p.Ala382Thr) c.1085G>A c.1108G>A (p.Ala370Thr) c.859G>A (p.Ala287Thr) c.767G>A (p.Gly256Asp) c.741G>A n.1293G>A c.1117G>A (p.Ala373Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300903G>C | CA356174271 | WFS1 | c.1144G>C (p.Ala382Pro) c.1085G>C c.1108G>C (p.Ala370Pro) c.859G>C (p.Ala287Pro) c.767G>C (p.Gly256Ala) c.741G>C n.1293G>C c.1117G>C (p.Ala373Pro) | |
4 | g.6300903G= | CA1435772355 | WFS1 | c.1144G= (p.Ala382=) c.1085G= c.1108G= (p.Ala370=) c.859G= (p.Ala287=) c.767G= (p.Gly256=) c.741G= n.1293G= c.1117G= (p.Ala373=) | |
4 | g.6300903G>T | CA356174272 | WFS1 | c.1144G>T (p.Ala382Ser) c.1085G>T c.1108G>T (p.Ala370Ser) c.859G>T (p.Ala287Ser) c.767G>T (p.Gly256Val) c.741G>T n.1293G>T c.1117G>T (p.Ala373Ser) | gnomAD v4 |
4 | g.6300904C>A | CA356174275 | WFS1 | c.1145C>A (p.Ala382Asp) c.1086C>A c.1109C>A (p.Ala370Asp) c.860C>A (p.Ala287Asp) c.768C>A (p.Gly256=) c.742C>A n.1294C>A c.1118C>A (p.Ala373Asp) | dbSNP gnomAD v2 |
4 | g.6300904C= | CA1435772357 | WFS1 | c.1145C= (p.Ala382=) c.1086C= c.1109C= (p.Ala370=) c.860C= (p.Ala287=) c.768C= (p.Gly256=) c.742C= n.1294C= c.1118C= (p.Ala373=) | |
4 | g.6300904C>G | CA356174274 | WFS1 | c.1145C>G (p.Ala382Gly) c.1086C>G c.1109C>G (p.Ala370Gly) c.860C>G (p.Ala287Gly) c.768C>G (p.Gly256=) c.742C>G n.1294C>G c.1118C>G (p.Ala373Gly) | gnomAD v4 |
4 | g.6300904C>T | CA356174273 | WFS1 | c.1145C>T (p.Ala382Val) c.1086C>T c.1109C>T (p.Ala370Val) c.860C>T (p.Ala287Val) c.768C>T (p.Gly256=) c.742C>T n.1294C>T c.1118C>T (p.Ala373Val) | ClinVar dbSNP |
4 | g.6300905C>A | CA438367977 | WFS1 | c.1146C>A (p.Ala382=) c.1087C>A c.1110C>A (p.Ala370=) c.861C>A (p.Ala287=) c.769C>A (p.Leu257Met) c.743C>A n.1295C>A c.1119C>A (p.Ala373=) | |
4 | g.6300905C= | CA1435772359 | WFS1 | c.1146C= (p.Ala382=) c.1087C= c.1110C= (p.Ala370=) c.861C= (p.Ala287=) c.769C= (p.Leu257=) c.743C= n.1295C= c.1119C= (p.Ala373=) | |
4 | g.6300905C>G | CA438367978 | WFS1 | c.1146C>G (p.Ala382=) c.1087C>G c.1110C>G (p.Ala370=) c.861C>G (p.Ala287=) c.769C>G (p.Leu257Val) c.743C>G n.1295C>G c.1119C>G (p.Ala373=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300905C>T | CA91796228 | WFS1 | c.1146C>T (p.Ala382=) c.1087C>T c.1110C>T (p.Ala370=) c.861C>T (p.Ala287=) c.769C>T (p.Leu257=) c.743C>T n.1295C>T c.1119C>T (p.Ala373=) | ClinVar dbSNP |
4 | g.6300906T>A | CA356174276 | WFS1 | c.1147T>A (p.Trp383Arg) c.1088T>A c.1111T>A (p.Trp371Arg) c.862T>A (p.Trp288Arg) c.770T>A (p.Leu257Gln) c.744T>A n.1296T>A c.1120T>A (p.Trp374Arg) | |
4 | g.6300906T>C | CA356174277 | WFS1 | c.1147T>C (p.Trp383Arg) c.1088T>C c.1111T>C (p.Trp371Arg) c.862T>C (p.Trp288Arg) c.770T>C (p.Leu257Pro) c.744T>C n.1296T>C c.1120T>C (p.Trp374Arg) | |
4 | g.6300906T>G | CA356174278 | WFS1 | c.1147T>G (p.Trp383Gly) c.1088T>G c.1111T>G (p.Trp371Gly) c.862T>G (p.Trp288Gly) c.770T>G (p.Leu257Arg) c.744T>G n.1296T>G c.1120T>G (p.Trp374Gly) | ClinVar dbSNP gnomAD v4 |
4 | g.6300907G>A | CA356174279 | WFS1 | c.1148G>A (p.Trp383Ter) c.1089G>A c.1112G>A (p.Trp371Ter) c.863G>A (p.Trp288Ter) c.771G>A (p.Leu257=) c.745G>A n.1297G>A c.1121G>A (p.Trp374Ter) | ClinVar dbSNP |
4 | g.6300907G>C | CA356174280 | WFS1 | c.1148G>C (p.Trp383Ser) c.1089G>C c.1112G>C (p.Trp371Ser) c.863G>C (p.Trp288Ser) c.771G>C (p.Leu257=) c.745G>C n.1297G>C c.1121G>C (p.Trp374Ser) | dbSNP |
4 | g.6300907G= | CA1435772361 | WFS1 | c.1148G= (p.Trp383=) c.1089G= c.1112G= (p.Trp371=) c.863G= (p.Trp288=) c.771G= (p.Leu257=) c.745G= n.1297G= c.1121G= (p.Trp374=) | |
4 | g.6300907G>T | CA356174281 | WFS1 | c.1148G>T (p.Trp383Leu) c.1089G>T c.1112G>T (p.Trp371Leu) c.863G>T (p.Trp288Leu) c.771G>T (p.Leu257=) c.745G>T n.1297G>T c.1121G>T (p.Trp374Leu) | |
4 | g.6300908G>A | CA356174282 | WFS1 | c.1149G>A (p.Trp383Ter) c.1090G>A c.1113G>A (p.Trp371Ter) c.864G>A (p.Trp288Ter) c.772G>A (p.Gly258Arg) c.746G>A n.1298G>A c.1122G>A (p.Trp374Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300908G>C | CA356174284 | WFS1 | c.1149G>C (p.Trp383Cys) c.1090G>C c.1113G>C (p.Trp371Cys) c.864G>C (p.Trp288Cys) c.772G>C (p.Gly258Arg) c.746G>C n.1298G>C c.1122G>C (p.Trp374Cys) | |
4 | g.6300908G= | CA1435772363 | WFS1 | c.1149G= (p.Trp383=) c.1090G= c.1113G= (p.Trp371=) c.864G= (p.Trp288=) c.772G= (p.Gly258=) c.746G= n.1298G= c.1122G= (p.Trp374=) | |
4 | g.6300908G>T | CA356174283 | WFS1 | c.1149G>T (p.Trp383Cys) c.1090G>T c.1113G>T (p.Trp371Cys) c.864G>T (p.Trp288Cys) c.772G>T (p.Gly258Ter) c.746G>T n.1298G>T c.1122G>T (p.Trp374Cys) | COSMIC |
4 | g.6300909G>A | CA356174285 | WFS1 | c.1150G>A (p.Glu384Lys) c.1091G>A c.1114G>A (p.Glu372Lys) c.865G>A (p.Glu289Lys) c.773G>A (p.Gly258Glu) c.747G>A n.1299G>A c.1123G>A (p.Glu375Lys) | |
4 | g.6300909G>C | CA356174286 | WFS1 | c.1150G>C (p.Glu384Gln) c.1091G>C c.1114G>C (p.Glu372Gln) c.865G>C (p.Glu289Gln) c.773G>C (p.Gly258Ala) c.747G>C n.1299G>C c.1123G>C (p.Glu375Gln) | dbSNP gnomAD v4 |
4 | g.6300909G= | CA1435772366 | WFS1 | c.1150G= (p.Glu384=) c.1091G= c.1114G= (p.Glu372=) c.865G= (p.Glu289=) c.773G= (p.Gly258=) c.747G= n.1299G= c.1123G= (p.Glu375=) | |
4 | g.6300909G>T | CA356174287 | WFS1 | c.1150G>T (p.Glu384Ter) c.1091G>T c.1114G>T (p.Glu372Ter) c.865G>T (p.Glu289Ter) c.773G>T (p.Gly258Val) c.747G>T n.1299G>T c.1123G>T (p.Glu375Ter) | |
4 | g.6300910A= | CA1435772367 | WFS1 | c.1151A= (p.Glu384=) c.1092A= c.1115A= (p.Glu372=) c.866A= (p.Glu289=) c.774A= (p.Gly258=) c.748A= n.1300A= c.1124A= (p.Glu375=) | |
4 | g.6300910A>C | CA356174288 | WFS1 | c.1151A>C (p.Glu384Ala) c.1092A>C c.1115A>C (p.Glu372Ala) c.866A>C (p.Glu289Ala) c.774A>C (p.Gly258=) c.748A>C n.1300A>C c.1124A>C (p.Glu375Ala) | dbSNP |
4 | g.6300910A>G | CA356174289 | WFS1 | c.1151A>G (p.Glu384Gly) c.1092A>G c.1115A>G (p.Glu372Gly) c.866A>G (p.Glu289Gly) c.774A>G (p.Gly258=) c.748A>G n.1300A>G c.1124A>G (p.Glu375Gly) | |
4 | g.6300910A>T | CA356174290 | WFS1 | c.1151A>T (p.Glu384Val) c.1092A>T c.1115A>T (p.Glu372Val) c.866A>T (p.Glu289Val) c.774A>T (p.Gly258=) c.748A>T n.1300A>T c.1124A>T (p.Glu375Val) |