Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
4 | g.6300911G>A | CA438367980 | WFS1 | c.1152G>A (p.Glu384=) c.1093G>A c.1116G>A (p.Glu372=) c.867G>A (p.Glu289=) c.775G>A (p.Glu259Lys) c.749G>A n.1301G>A c.1125G>A (p.Glu375=) | |
4 | g.6300911G>C | CA356174291 | WFS1 | c.1152G>C (p.Glu384Asp) c.1093G>C c.1116G>C (p.Glu372Asp) c.867G>C (p.Glu289Asp) c.775G>C (p.Glu259Gln) c.749G>C n.1301G>C c.1125G>C (p.Glu375Asp) | |
4 | g.6300911G>T | CA356174292 | WFS1 | c.1152G>T (p.Glu384Asp) c.1093G>T c.1116G>T (p.Glu372Asp) c.867G>T (p.Glu289Asp) c.775G>T (p.Glu259Ter) c.749G>T n.1301G>T c.1125G>T (p.Glu375Asp) | |
4 | g.6300912A= | CA1435772369 | WFS1 | c.1153A= (p.Asn385=) c.1094A= c.1117A= (p.Asn373=) c.868A= (p.Asn290=) c.776A= (p.Glu259=) c.750A= n.1302A= c.1126A= (p.Asn376=) | |
4 | g.6300912A>C | CA91796229 | WFS1 | c.1153A>C (p.Asn385His) c.1094A>C c.1117A>C (p.Asn373His) c.868A>C (p.Asn290His) c.776A>C (p.Glu259Ala) c.750A>C n.1302A>C c.1126A>C (p.Asn376His) | dbSNP gnomAD v4 |
4 | g.6300912A>G | CA356174293 | WFS1 | c.1153A>G (p.Asn385Asp) c.1094A>G c.1117A>G (p.Asn373Asp) c.868A>G (p.Asn290Asp) c.776A>G (p.Glu259Gly) c.750A>G n.1302A>G c.1126A>G (p.Asn376Asp) | dbSNP gnomAD v4 |
4 | g.6300912A>T | CA356174294 | WFS1 | c.1153A>T (p.Asn385Tyr) c.1094A>T c.1117A>T (p.Asn373Tyr) c.868A>T (p.Asn290Tyr) c.776A>T (p.Glu259Val) c.750A>T n.1302A>T c.1126A>T (p.Asn376Tyr) | |
4 | g.6300913A= | CA1435772370 | WFS1 | c.1154A= (p.Asn385=) c.1095A= c.1118A= (p.Asn373=) c.869A= (p.Asn290=) c.777A= (p.Glu259=) c.751A= n.1303A= c.1127A= (p.Asn376=) | |
4 | g.6300913A>C | CA356174296 | WFS1 | c.1154A>C (p.Asn385Thr) c.1095A>C c.1118A>C (p.Asn373Thr) c.869A>C (p.Asn290Thr) c.777A>C (p.Glu259Asp) c.751A>C n.1303A>C c.1127A>C (p.Asn376Thr) | |
4 | g.6300913A>G | CA2839221 | WFS1 | c.1154A>G (p.Asn385Ser) c.1095A>G c.1118A>G (p.Asn373Ser) c.869A>G (p.Asn290Ser) c.777A>G (p.Glu259=) c.751A>G n.1303A>G c.1127A>G (p.Asn376Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300913A>T | CA356174295 | WFS1 | c.1154A>T (p.Asn385Ile) c.1095A>T c.1118A>T (p.Asn373Ile) c.869A>T (p.Asn290Ile) c.777A>T (p.Glu259Asp) c.751A>T n.1303A>T c.1127A>T (p.Asn376Ile) | |
4 | g.6300914C>A | CA2839223 | WFS1 | c.1155C>A (p.Asn385Lys) c.1096C>A c.1119C>A (p.Asn373Lys) c.870C>A (p.Asn290Lys) c.778C>A (p.Leu260Ile) c.752C>A n.1304C>A c.1128C>A (p.Asn376Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300914C= | CA1435772372 | WFS1 | c.1155C= (p.Asn385=) c.1096C= c.1119C= (p.Asn373=) c.870C= (p.Asn290=) c.778C= (p.Leu260=) c.752C= n.1304C= c.1128C= (p.Asn376=) | |
4 | g.6300914C>G | CA2839222 | WFS1 | c.1155C>G (p.Asn385Lys) c.1096C>G c.1119C>G (p.Asn373Lys) c.870C>G (p.Asn290Lys) c.778C>G (p.Leu260Val) c.752C>G n.1304C>G c.1128C>G (p.Asn376Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300914C>T | CA438367984 | WFS1 | c.1155C>T (p.Asn385=) c.1096C>T c.1119C>T (p.Asn373=) c.870C>T (p.Asn290=) c.778C>T (p.Leu260Phe) c.752C>T n.1304C>T c.1128C>T (p.Asn376=) | |
4 | g.6300915T>A | CA356174297 | WFS1 | c.1156T>A (p.Phe386Ile) c.1097T>A c.1120T>A (p.Phe374Ile) c.871T>A (p.Phe291Ile) c.779T>A (p.Leu260His) c.753T>A n.1305T>A c.1129T>A (p.Phe377Ile) | |
4 | g.6300915T>C | CA356174298 | WFS1 | c.1156T>C (p.Phe386Leu) c.1097T>C c.1120T>C (p.Phe374Leu) c.871T>C (p.Phe291Leu) c.779T>C (p.Leu260Pro) c.753T>C n.1305T>C c.1129T>C (p.Phe377Leu) | |
4 | g.6300915T>G | CA356174299 | WFS1 | c.1156T>G (p.Phe386Val) c.1097T>G c.1120T>G (p.Phe374Val) c.871T>G (p.Phe291Val) c.779T>G (p.Leu260Arg) c.753T>G n.1305T>G c.1129T>G (p.Phe377Val) | |
4 | g.6300916T>A | CA356174300 | WFS1 | c.1157T>A (p.Phe386Tyr) c.1098T>A c.1121T>A (p.Phe374Tyr) c.872T>A (p.Phe291Tyr) c.780T>A (p.Leu260=) c.754T>A n.1306T>A c.1130T>A (p.Phe377Tyr) | |
4 | g.6300916T>C | CA356174301 | WFS1 | c.1157T>C (p.Phe386Ser) c.1098T>C c.1121T>C (p.Phe374Ser) c.872T>C (p.Phe291Ser) c.780T>C (p.Leu260=) c.754T>C n.1306T>C c.1130T>C (p.Phe377Ser) | |
4 | g.6300916T>G | CA356174302 | WFS1 | c.1157T>G (p.Phe386Cys) c.1098T>G c.1121T>G (p.Phe374Cys) c.872T>G (p.Phe291Cys) c.780T>G (p.Leu260=) c.754T>G n.1306T>G c.1130T>G (p.Phe377Cys) | |
4 | g.6300917C>A | CA356174303 | WFS1 | c.1158C>A (p.Phe386Leu) c.1099C>A c.1122C>A (p.Phe374Leu) c.873C>A (p.Phe291Leu) c.781C>A (p.Pro261Thr) c.755C>A n.1307C>A c.1131C>A (p.Phe377Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300917C= | CA1435772374 | WFS1 | c.1158C= (p.Phe386=) c.1099C= c.1122C= (p.Phe374=) c.873C= (p.Phe291=) c.781C= (p.Pro261=) c.755C= n.1307C= c.1131C= (p.Phe377=) | |
4 | g.6300917C>G | CA356174304 | WFS1 | c.1158C>G (p.Phe386Leu) c.1099C>G c.1122C>G (p.Phe374Leu) c.873C>G (p.Phe291Leu) c.781C>G (p.Pro261Ala) c.755C>G n.1307C>G c.1131C>G (p.Phe377Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300917C>T | CA438367986 | WFS1 | c.1158C>T (p.Phe386=) c.1099C>T c.1122C>T (p.Phe374=) c.873C>T (p.Phe291=) c.781C>T (p.Pro261Ser) c.755C>T n.1307C>T c.1131C>T (p.Phe377=) | |
4 | g.6300918C>A | CA2839224 | WFS1 | c.1159C>A (p.Arg387Ser) c.1100C>A c.1123C>A (p.Arg375Ser) c.874C>A (p.Arg292Ser) c.782C>A (p.Pro261Gln) n.1308C>A c.1132C>A (p.Arg378Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300918C= | CA1435772377 | WFS1 | c.1159C= (p.Arg387=) c.1100C= c.1123C= (p.Arg375=) c.874C= (p.Arg292=) c.782C= (p.Pro261=) n.1308C= c.1132C= (p.Arg378=) | |
4 | g.6300918C>G | CA356174305 | WFS1 | c.1159C>G (p.Arg387Gly) c.1100C>G c.1123C>G (p.Arg375Gly) c.874C>G (p.Arg292Gly) c.782C>G (p.Pro261Arg) n.1308C>G c.1132C>G (p.Arg378Gly) | |
4 | g.6300918C>T | CA320427 | WFS1 | c.1159C>T (p.Arg387Cys) c.1100C>T c.1123C>T (p.Arg375Cys) c.874C>T (p.Arg292Cys) c.782C>T (p.Pro261Leu) n.1308C>T c.1132C>T (p.Arg378Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300919G>A | CA2839225 | WFS1 | c.1160G>A (p.Arg387His) c.1101G>A c.1124G>A (p.Arg375His) c.875G>A (p.Arg292His) c.783G>A (p.Pro261=) n.1309G>A c.1133G>A (p.Arg378His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300919G>C | CA356174306 | WFS1 | c.1160G>C (p.Arg387Pro) c.1101G>C c.1124G>C (p.Arg375Pro) c.875G>C (p.Arg292Pro) c.783G>C (p.Pro261=) n.1309G>C c.1133G>C (p.Arg378Pro) | |
4 | g.6300919G= | CA1435772382 | WFS1 | c.1160G= (p.Arg387=) c.1101G= c.1124G= (p.Arg375=) c.875G= (p.Arg292=) c.783G= (p.Pro261=) n.1309G= c.1133G= (p.Arg378=) | |
4 | g.6300919G>T | CA356174307 | WFS1 | c.1160G>T (p.Arg387Leu) c.1101G>T c.1124G>T (p.Arg375Leu) c.875G>T (p.Arg292Leu) c.783G>T (p.Pro261=) n.1309G>T c.1133G>T (p.Arg378Leu) | dbSNP |
4 | g.6300920C>A | CA438368073 | WFS1 | c.1161C>A (p.Arg387=) c.1102C>A c.1125C>A (p.Arg375=) c.876C>A (p.Arg292=) c.784C>A (p.His262Asn) n.1310C>A c.1134C>A (p.Arg378=) | |
4 | g.6300920C= | CA1435772387 | WFS1 | c.1161C= (p.Arg387=) c.1102C= c.1125C= (p.Arg375=) c.876C= (p.Arg292=) c.784C= (p.His262=) n.1310C= c.1134C= (p.Arg378=) | |
4 | g.6300920C>G | CA438368074 | WFS1 | c.1161C>G (p.Arg387=) c.1102C>G c.1125C>G (p.Arg375=) c.876C>G (p.Arg292=) c.784C>G (p.His262Asp) n.1310C>G c.1134C>G (p.Arg378=) | |
4 | g.6300920C>T | CA2839226 | WFS1 | c.1161C>T (p.Arg387=) c.1102C>T c.1125C>T (p.Arg375=) c.876C>T (p.Arg292=) c.784C>T (p.His262Tyr) n.1310C>T c.1134C>T (p.Arg378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300921A>C | CA356174308 | WFS1 | c.1162A>C (p.Thr388Pro) c.1103A>C c.1126A>C (p.Thr376Pro) c.877A>C (p.Thr293Pro) c.785A>C (p.His262Pro) n.1311A>C c.1135A>C (p.Thr379Pro) | |
4 | g.6300921A>G | CA356174309 | WFS1 | c.1162A>G (p.Thr388Ala) c.1103A>G c.1126A>G (p.Thr376Ala) c.877A>G (p.Thr293Ala) c.785A>G (p.His262Arg) n.1311A>G c.1135A>G (p.Thr379Ala) | |
4 | g.6300921A>T | CA356174310 | WFS1 | c.1162A>T (p.Thr388Ser) c.1103A>T c.1126A>T (p.Thr376Ser) c.877A>T (p.Thr293Ser) c.785A>T (p.His262Leu) n.1311A>T c.1135A>T (p.Thr379Ser) | gnomAD v4 |
4 | g.6300922C>A | CA356174311 | WFS1 | c.1163C>A (p.Thr388Asn) c.1104C>A c.1127C>A (p.Thr376Asn) c.878C>A (p.Thr293Asn) c.786C>A (p.His262Gln) n.1312C>A c.1136C>A (p.Thr379Asn) | |
4 | g.6300922C= | CA1435772390 | WFS1 | c.1163C= (p.Thr388=) c.1104C= c.1127C= (p.Thr376=) c.878C= (p.Thr293=) c.786C= (p.His262=) n.1312C= c.1136C= (p.Thr379=) | |
4 | g.6300922C>G | CA356174312 | WFS1 | c.1163C>G (p.Thr388Ser) c.1104C>G c.1127C>G (p.Thr376Ser) c.878C>G (p.Thr293Ser) c.786C>G (p.His262Gln) n.1312C>G c.1136C>G (p.Thr379Ser) | gnomAD v4 |
4 | g.6300922C>T | CA2839227 | WFS1 | c.1163C>T (p.Thr388Ile) c.1104C>T c.1127C>T (p.Thr376Ile) c.878C>T (p.Thr293Ile) c.786C>T (p.His262=) n.1312C>T c.1136C>T (p.Thr379Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300923C>A | CA438368078 | WFS1 | c.1164C>A (p.Thr388=) c.1105C>A c.1128C>A (p.Thr376=) c.879C>A (p.Thr293=) c.787C>A (p.Pro263Thr) n.1313C>A c.1137C>A (p.Thr379=) | |
4 | g.6300923C= | CA1435772393 | WFS1 | c.1164C= (p.Thr388=) c.1105C= c.1128C= (p.Thr376=) c.879C= (p.Thr293=) c.787C= (p.Pro263=) n.1313C= c.1137C= (p.Thr379=) | |
4 | g.6300923C>G | CA438368080 | WFS1 | c.1164C>G (p.Thr388=) c.1105C>G c.1128C>G (p.Thr376=) c.879C>G (p.Thr293=) c.787C>G (p.Pro263Ala) n.1313C>G c.1137C>G (p.Thr379=) | |
4 | g.6300923C>T | CA438368081 | WFS1 | c.1164C>T (p.Thr388=) c.1105C>T c.1128C>T (p.Thr376=) c.879C>T (p.Thr293=) c.787C>T (p.Pro263Ser) n.1313C>T c.1137C>T (p.Thr379=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300924C>A | CA356174313 | WFS1 | c.1165C>A (p.Leu389Ile) c.1106C>A c.1129C>A (p.Leu377Ile) c.880C>A (p.Leu294Ile) c.788C>A (p.Pro263His) n.1314C>A c.1138C>A (p.Leu380Ile) | |
4 | g.6300924C= | CA1435772395 | WFS1 | c.1165C= (p.Leu389=) c.1106C= c.1129C= (p.Leu377=) c.880C= (p.Leu294=) c.788C= (p.Pro263=) n.1314C= c.1138C= (p.Leu380=) | |
4 | g.6300924C>G | CA2839228 | WFS1 | c.1165C>G (p.Leu389Val) c.1106C>G c.1129C>G (p.Leu377Val) c.880C>G (p.Leu294Val) c.788C>G (p.Pro263Arg) n.1314C>G c.1138C>G (p.Leu380Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300924C>T | CA356174314 | WFS1 | c.1165C>T (p.Leu389Phe) c.1106C>T c.1129C>T (p.Leu377Phe) c.880C>T (p.Leu294Phe) c.788C>T (p.Pro263Leu) n.1314C>T c.1138C>T (p.Leu380Phe) | |
4 | g.6300925T>A | CA356174315 | WFS1 | c.1166T>A (p.Leu389His) c.1107T>A c.1130T>A (p.Leu377His) c.881T>A (p.Leu294His) c.789T>A (p.Pro263=) n.1315T>A c.1139T>A (p.Leu380His) | |
4 | g.6300925T>C | CA356174316 | WFS1 | c.1166T>C (p.Leu389Pro) c.1107T>C c.1130T>C (p.Leu377Pro) c.881T>C (p.Leu294Pro) c.789T>C (p.Pro263=) n.1315T>C c.1139T>C (p.Leu380Pro) | |
4 | g.6300925T>G | CA356174317 | WFS1 | c.1166T>G (p.Leu389Arg) c.1107T>G c.1130T>G (p.Leu377Arg) c.881T>G (p.Leu294Arg) c.789T>G (p.Pro263=) n.1315T>G c.1139T>G (p.Leu380Arg) | |
4 | g.6300926C>A | CA438368084 | WFS1 | c.1167C>A (p.Leu389=) c.1108C>A c.1131C>A (p.Leu377=) c.882C>A (p.Leu294=) c.790C>A (p.His264Asn) n.1316C>A c.1140C>A (p.Leu380=) | |
4 | g.6300926C= | CA1435772398 | WFS1 | c.1167C= (p.Leu389=) c.1108C= c.1131C= (p.Leu377=) c.882C= (p.Leu294=) c.790C= (p.His264=) n.1316C= c.1140C= (p.Leu380=) | |
4 | g.6300926C>G | CA438368085 | WFS1 | c.1167C>G (p.Leu389=) c.1108C>G c.1131C>G (p.Leu377=) c.882C>G (p.Leu294=) c.790C>G (p.His264Asp) n.1316C>G c.1140C>G (p.Leu380=) | |
4 | g.6300926C>T | CA438368086 | WFS1 | c.1167C>T (p.Leu389=) c.1108C>T c.1131C>T (p.Leu377=) c.882C>T (p.Leu294=) c.790C>T (p.His264Tyr) n.1316C>T c.1140C>T (p.Leu380=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300927A= | CA1435772399 | WFS1 | c.1168A= (p.Thr390=) c.1109A= c.1132A= (p.Thr378=) c.883A= (p.Thr295=) c.791A= (p.His264=) n.1317A= c.1141A= (p.Thr381=) | |
4 | g.6300927A>C | CA356174319 | WFS1 | c.1168A>C (p.Thr390Pro) c.1109A>C c.1132A>C (p.Thr378Pro) c.883A>C (p.Thr295Pro) c.791A>C (p.His264Pro) n.1317A>C c.1141A>C (p.Thr381Pro) | gnomAD v4 |
4 | g.6300927A>G | CA356174318 | WFS1 | c.1168A>G (p.Thr390Ala) c.1109A>G c.1132A>G (p.Thr378Ala) c.883A>G (p.Thr295Ala) c.791A>G (p.His264Arg) n.1317A>G c.1141A>G (p.Thr381Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300927A>T | CA2839229 | WFS1 | c.1168A>T (p.Thr390Ser) c.1109A>T c.1132A>T (p.Thr378Ser) c.883A>T (p.Thr295Ser) c.791A>T (p.His264Leu) n.1317A>T c.1141A>T (p.Thr381Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300928C>A | CA356174320 | WFS1 | c.1169C>A (p.Thr390Asn) c.1110C>A c.1133C>A (p.Thr378Asn) c.884C>A (p.Thr295Asn) c.792C>A (p.His264Gln) n.1318C>A c.1142C>A (p.Thr381Asn) | gnomAD v4 |
4 | g.6300928C= | CA1435772401 | WFS1 | c.1169C= (p.Thr390=) c.1110C= c.1133C= (p.Thr378=) c.884C= (p.Thr295=) c.792C= (p.His264=) n.1318C= c.1142C= (p.Thr381=) | |
4 | g.6300928C>G | CA356174321 | WFS1 | c.1169C>G (p.Thr390Ser) c.1110C>G c.1133C>G (p.Thr378Ser) c.884C>G (p.Thr295Ser) c.792C>G (p.His264Gln) n.1318C>G c.1142C>G (p.Thr381Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300928C>T | CA356174322 | WFS1 | c.1169C>T (p.Thr390Ile) c.1110C>T c.1133C>T (p.Thr378Ile) c.884C>T (p.Thr295Ile) c.792C>T (p.His264=) n.1318C>T c.1142C>T (p.Thr381Ile) | gnomAD v4 |
4 | g.6300929C>A | CA136328 | WFS1 | c.1170C>A (p.Thr390=) c.1111C>A c.1134C>A (p.Thr378=) c.885C>A (p.Thr295=) c.793C>A (p.Arg265=) n.1319C>A c.1143C>A (p.Thr381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300929C= | CA1435772404 | WFS1 | c.1170C= (p.Thr390=) c.1111C= c.1134C= (p.Thr378=) c.885C= (p.Thr295=) c.793C= (p.Arg265=) n.1319C= c.1143C= (p.Thr381=) | |
4 | g.6300929C>G | CA2839230 | WFS1 | c.1170C>G (p.Thr390=) c.1111C>G c.1134C>G (p.Thr378=) c.885C>G (p.Thr295=) c.793C>G (p.Arg265Gly) n.1319C>G c.1143C>G (p.Thr381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300929C>T | CA2839231 | WFS1 | c.1170C>T (p.Thr390=) c.1111C>T c.1134C>T (p.Thr378=) c.885C>T (p.Thr295=) c.793C>T (p.Arg265Ter) n.1319C>T c.1143C>T (p.Thr381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6300930G>A | CA319808 | WFS1 | c.1171G>A (p.Asp391Asn) c.1112G>A c.1135G>A (p.Asp379Asn) c.886G>A (p.Asp296Asn) c.794G>A (p.Arg265Gln) n.1320G>A c.1144G>A (p.Asp382Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300930G>C | CA356174323 | WFS1 | c.1171G>C (p.Asp391His) c.1112G>C c.1135G>C (p.Asp379His) c.886G>C (p.Asp296His) c.794G>C (p.Arg265Pro) n.1320G>C c.1144G>C (p.Asp382His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300930G= | CA1435772412 | WFS1 | c.1171G= (p.Asp391=) c.1112G= c.1135G= (p.Asp379=) c.886G= (p.Asp296=) c.794G= (p.Arg265=) n.1320G= c.1144G= (p.Asp382=) | |
4 | g.6300930G>T | CA356174324 | WFS1 | c.1171G>T (p.Asp391Tyr) c.1112G>T c.1135G>T (p.Asp379Tyr) c.886G>T (p.Asp296Tyr) c.794G>T (p.Arg265Leu) n.1320G>T c.1144G>T (p.Asp382Tyr) | ClinVar dbSNP |
4 | g.6300931A= | CA1435772414 | WFS1 | c.1172A= (p.Asp391=) c.1113A= c.1136A= (p.Asp379=) c.887A= (p.Asp296=) c.795A= (p.Arg265=) n.1321A= c.1145A= (p.Asp382=) | |
4 | g.6300931A>C | CA356174325 | WFS1 | c.1172A>C (p.Asp391Ala) c.1113A>C c.1136A>C (p.Asp379Ala) c.887A>C (p.Asp296Ala) c.795A>C (p.Arg265=) n.1321A>C c.1145A>C (p.Asp382Ala) | gnomAD v4 |
4 | g.6300931A>G | CA356174326 | WFS1 | c.1172A>G (p.Asp391Gly) c.1113A>G c.1136A>G (p.Asp379Gly) c.887A>G (p.Asp296Gly) c.795A>G (p.Arg265=) n.1321A>G c.1145A>G (p.Asp382Gly) | |
4 | g.6300931A>T | CA356174327 | WFS1 | c.1172A>T (p.Asp391Val) c.1113A>T c.1136A>T (p.Asp379Val) c.887A>T (p.Asp296Val) c.795A>T (p.Arg265=) n.1321A>T c.1145A>T (p.Asp382Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300932C>A | CA356174328 | WFS1 | c.1173C>A (p.Asp391Glu) c.1114C>A c.1137C>A (p.Asp379Glu) c.888C>A (p.Asp296Glu) c.796C>A (p.Pro266Thr) n.1322C>A c.1146C>A (p.Asp382Glu) | |
4 | g.6300932C= | CA1435772415 | WFS1 | c.1173C= (p.Asp391=) c.1114C= c.1137C= (p.Asp379=) c.888C= (p.Asp296=) c.796C= (p.Pro266=) n.1322C= c.1146C= (p.Asp382=) | |
4 | g.6300932C>G | CA2839232 | WFS1 | c.1173C>G (p.Asp391Glu) c.1114C>G c.1137C>G (p.Asp379Glu) c.888C>G (p.Asp296Glu) c.796C>G (p.Pro266Ala) n.1322C>G c.1146C>G (p.Asp382Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300932C>T | CA438368092 | WFS1 | c.1173C>T (p.Asp391=) c.1114C>T c.1137C>T (p.Asp379=) c.888C>T (p.Asp296=) c.796C>T (p.Pro266Ser) n.1322C>T c.1146C>T (p.Asp382=) | gnomAD v4 |
4 | g.6300933C>A | CA356174329 | WFS1 | c.1174C>A (p.Leu392Met) c.1115C>A c.1138C>A (p.Leu380Met) c.889C>A (p.Leu297Met) c.797C>A (p.Pro266His) n.1323C>A c.1147C>A (p.Leu383Met) | |
4 | g.6300933C= | CA1435772417 | WFS1 | c.1174C= (p.Leu392=) c.1115C= c.1138C= (p.Leu380=) c.889C= (p.Leu297=) c.797C= (p.Pro266=) n.1323C= c.1147C= (p.Leu383=) | |
4 | g.6300933C>G | CA356174330 | WFS1 | c.1174C>G (p.Leu392Val) c.1115C>G c.1138C>G (p.Leu380Val) c.889C>G (p.Leu297Val) c.797C>G (p.Pro266Arg) n.1323C>G c.1147C>G (p.Leu383Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300933C>T | CA438368093 | WFS1 | c.1174C>T (p.Leu392=) c.1115C>T c.1138C>T (p.Leu380=) c.889C>T (p.Leu297=) c.797C>T (p.Pro266Leu) n.1323C>T c.1147C>T (p.Leu383=) | gnomAD v4 |
4 | g.6300934T>A | CA356174331 | WFS1 | c.1175T>A (p.Leu392Gln) c.1116T>A c.1139T>A (p.Leu380Gln) c.890T>A (p.Leu297Gln) c.798T>A (p.Pro266=) n.1324T>A c.1148T>A (p.Leu383Gln) | |
4 | g.6300934T>C | CA356174332 | WFS1 | c.1175T>C (p.Leu392Pro) c.1116T>C c.1139T>C (p.Leu380Pro) c.890T>C (p.Leu297Pro) c.798T>C (p.Pro266=) n.1324T>C c.1148T>C (p.Leu383Pro) | |
4 | g.6300934T>G | CA356174333 | WFS1 | c.1175T>G (p.Leu392Arg) c.1116T>G c.1139T>G (p.Leu380Arg) c.890T>G (p.Leu297Arg) c.798T>G (p.Pro266=) n.1324T>G c.1148T>G (p.Leu383Arg) | gnomAD v4 |
4 | g.6300935G>A | CA438368095 | WFS1 | c.1176G>A (p.Leu392=) c.1117G>A c.1140G>A (p.Leu380=) c.891G>A (p.Leu297=) c.799G>A (p.Ala267Thr) n.1325G>A c.1149G>A (p.Leu383=) | |
4 | g.6300935G>C | CA438368096 | WFS1 | c.1176G>C (p.Leu392=) c.1117G>C c.1140G>C (p.Leu380=) c.891G>C (p.Leu297=) c.799G>C (p.Ala267Pro) n.1325G>C c.1149G>C (p.Leu383=) | |
4 | g.6300935G>T | CA438368097 | WFS1 | c.1176G>T (p.Leu392=) c.1117G>T c.1140G>T (p.Leu380=) c.891G>T (p.Leu297=) c.799G>T (p.Ala267Ser) n.1325G>T c.1149G>T (p.Leu383=) | |
4 | g.6300936C>A | CA356174334 | WFS1 | c.1177C>A (p.Leu393Met) c.1118C>A c.1141C>A (p.Leu381Met) c.892C>A (p.Leu298Met) c.800C>A (p.Ala267Asp) n.1326C>A c.1150C>A (p.Leu384Met) | |
4 | g.6300936C= | CA1435772418 | WFS1 | c.1177C= (p.Leu393=) c.1118C= c.1141C= (p.Leu381=) c.892C= (p.Leu298=) c.800C= (p.Ala267=) n.1326C= c.1150C= (p.Leu384=) | |
4 | g.6300936C>G | CA356174335 | WFS1 | c.1177C>G (p.Leu393Val) c.1118C>G c.1141C>G (p.Leu381Val) c.892C>G (p.Leu298Val) c.800C>G (p.Ala267Gly) n.1326C>G c.1150C>G (p.Leu384Val) | |
4 | g.6300936C>T | CA438368098 | WFS1 | c.1177C>T (p.Leu393=) c.1118C>T c.1141C>T (p.Leu381=) c.892C>T (p.Leu298=) c.800C>T (p.Ala267Val) n.1326C>T c.1150C>T (p.Leu384=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300937T>A | CA356174336 | WFS1 | c.1178T>A (p.Leu393Gln) c.1119T>A c.1142T>A (p.Leu381Gln) c.893T>A (p.Leu298Gln) c.801T>A (p.Ala267=) n.1327T>A c.1151T>A (p.Leu384Gln) | |
4 | g.6300937T>C | CA207721 | WFS1 | c.1178T>C (p.Leu393Pro) c.1119T>C c.1142T>C (p.Leu381Pro) c.893T>C (p.Leu298Pro) c.801T>C (p.Ala267=) n.1327T>C c.1151T>C (p.Leu384Pro) | ClinVar dbSNP |
4 | g.6300937T>G | CA356174337 | WFS1 | c.1178T>G (p.Leu393Arg) c.1119T>G c.1142T>G (p.Leu381Arg) c.893T>G (p.Leu298Arg) c.801T>G (p.Ala267=) n.1327T>G c.1151T>G (p.Leu384Arg) | |
4 | g.6300937T= | CA1435772419 | WFS1 | c.1178T= (p.Leu393=) c.1119T= c.1142T= (p.Leu381=) c.893T= (p.Leu298=) c.801T= (p.Ala267=) n.1327T= c.1151T= (p.Leu384=) | |
4 | g.6300938G>A | CA2839233 | WFS1 | c.1179G>A (p.Leu393=) c.1120G>A c.1143G>A (p.Leu381=) c.894G>A (p.Leu298=) c.802G>A (p.Ala268Thr) n.1328G>A c.1152G>A (p.Leu384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300938G>C | CA438368102 | WFS1 | c.1179G>C (p.Leu393=) c.1120G>C c.1143G>C (p.Leu381=) c.894G>C (p.Leu298=) c.802G>C (p.Ala268Pro) n.1328G>C c.1152G>C (p.Leu384=) | dbSNP gnomAD v4 |
4 | g.6300938G= | CA1435772422 | WFS1 | c.1179G= (p.Leu393=) c.1120G= c.1143G= (p.Leu381=) c.894G= (p.Leu298=) c.802G= (p.Ala268=) n.1328G= c.1152G= (p.Leu384=) | |
4 | g.6300938G>T | CA438368103 | WFS1 | c.1179G>T (p.Leu393=) c.1120G>T c.1143G>T (p.Leu381=) c.894G>T (p.Leu298=) c.802G>T (p.Ala268Ser) n.1328G>T c.1152G>T (p.Leu384=) | |
4 | g.6300939C>A | CA356174338 | WFS1 | c.1180C>A (p.Leu394Met) c.1121C>A c.1144C>A (p.Leu382Met) c.895C>A (p.Leu299Met) c.803C>A (p.Ala268Asp) n.1329C>A c.1153C>A (p.Leu385Met) | |
4 | g.6300939C= | CA1435772424 | WFS1 | c.1180C= (p.Leu394=) c.1121C= c.1144C= (p.Leu382=) c.895C= (p.Leu299=) c.803C= (p.Ala268=) n.1329C= c.1153C= (p.Leu385=) | |
4 | g.6300939C>G | CA356174339 | WFS1 | c.1180C>G (p.Leu394Val) c.1121C>G c.1144C>G (p.Leu382Val) c.895C>G (p.Leu299Val) c.803C>G (p.Ala268Gly) n.1329C>G c.1153C>G (p.Leu385Val) | |
4 | g.6300939C>T | CA2839234 | WFS1 | c.1180C>T (p.Leu394=) c.1121C>T c.1144C>T (p.Leu382=) c.895C>T (p.Leu299=) c.803C>T (p.Ala268Val) n.1329C>T c.1153C>T (p.Leu385=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300940T>A | CA356174341 | WFS1 | c.1181T>A (p.Leu394Gln) c.1122T>A c.1145T>A (p.Leu382Gln) c.896T>A (p.Leu299Gln) c.804T>A (p.Ala268=) n.1330T>A c.1154T>A (p.Leu385Gln) | |
4 | g.6300940T>C | CA91796230 | WFS1 | c.1181T>C (p.Leu394Pro) c.1122T>C c.1145T>C (p.Leu382Pro) c.896T>C (p.Leu299Pro) c.804T>C (p.Ala268=) n.1330T>C c.1154T>C (p.Leu385Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300940T>G | CA356174340 | WFS1 | c.1181T>G (p.Leu394Arg) c.1122T>G c.1145T>G (p.Leu382Arg) c.896T>G (p.Leu299Arg) c.804T>G (p.Ala268=) n.1330T>G c.1154T>G (p.Leu385Arg) | |
4 | g.6300940T= | CA1435772426 | WFS1 | c.1181T= (p.Leu394=) c.1122T= c.1145T= (p.Leu382=) c.896T= (p.Leu299=) c.804T= (p.Ala268=) n.1330T= c.1154T= (p.Leu385=) | |
4 | g.6300941G>A | CA438368107 | WFS1 | c.1182G>A (p.Leu394=) c.1123G>A c.1146G>A (p.Leu382=) c.897G>A (p.Leu299=) c.805G>A (p.Ala269Thr) n.1331G>A c.1155G>A (p.Leu385=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300941G>C | CA438368109 | WFS1 | c.1182G>C (p.Leu394=) c.1123G>C c.1146G>C (p.Leu382=) c.897G>C (p.Leu299=) c.805G>C (p.Ala269Pro) n.1331G>C c.1155G>C (p.Leu385=) | |
4 | g.6300941G>T | CA438368110 | WFS1 | c.1182G>T (p.Leu394=) c.1123G>T c.1146G>T (p.Leu382=) c.897G>T (p.Leu299=) c.805G>T (p.Ala269Ser) n.1331G>T c.1155G>T (p.Leu385=) | |
4 | g.6300942C>A | CA356174342 | WFS1 | c.1183C>A (p.Arg395Ser) c.1124C>A c.1147C>A (p.Arg383Ser) c.898C>A (p.Arg300Ser) c.806C>A (p.Ala269Glu) n.1332C>A c.1156C>A (p.Arg386Ser) | gnomAD v4 |
4 | g.6300942C= | CA1435772429 | WFS1 | c.1183C= (p.Arg395=) c.1124C= c.1147C= (p.Arg383=) c.898C= (p.Arg300=) c.806C= (p.Ala269=) n.1332C= c.1156C= (p.Arg386=) | |
4 | g.6300942C>G | CA356174343 | WFS1 | c.1183C>G (p.Arg395Gly) c.1124C>G c.1147C>G (p.Arg383Gly) c.898C>G (p.Arg300Gly) c.806C>G (p.Ala269Gly) n.1332C>G c.1156C>G (p.Arg386Gly) | |
4 | g.6300942C>T | CA2839235 | WFS1 | c.1183C>T (p.Arg395Cys) c.1124C>T c.1147C>T (p.Arg383Cys) c.898C>T (p.Arg300Cys) c.806C>T (p.Ala269Val) n.1332C>T c.1156C>T (p.Arg386Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300943G>A | CA2839237 | WFS1 | c.1184G>A (p.Arg395His) c.1125G>A c.1148G>A (p.Arg383His) c.899G>A (p.Arg300His) c.807G>A (p.Ala269=) n.1333G>A c.1157G>A (p.Arg386His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300943G>C | CA2839238 | WFS1 | c.1184G>C (p.Arg395Pro) c.1125G>C c.1148G>C (p.Arg383Pro) c.899G>C (p.Arg300Pro) c.807G>C (p.Ala269=) n.1333G>C c.1157G>C (p.Arg386Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300943G= | CA1435772433 | WFS1 | c.1184G= (p.Arg395=) c.1125G= c.1148G= (p.Arg383=) c.899G= (p.Arg300=) c.807G= (p.Ala269=) n.1333G= c.1157G= (p.Arg386=) | |
4 | g.6300943G>T | CA2839236 | WFS1 | c.1184G>T (p.Arg395Leu) c.1125G>T c.1148G>T (p.Arg383Leu) c.899G>T (p.Arg300Leu) c.807G>T (p.Ala269=) n.1333G>T c.1157G>T (p.Arg386Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300944C>A | CA438368113 | WFS1 | c.1185C>A (p.Arg395=) c.1126C>A c.1149C>A (p.Arg383=) c.900C>A (p.Arg300=) c.808C>A (p.Leu270Ile) n.1334C>A c.1158C>A (p.Arg386=) | |
4 | g.6300944C= | CA1435772435 | WFS1 | c.1185C= (p.Arg395=) c.1126C= c.1149C= (p.Arg383=) c.900C= (p.Arg300=) c.808C= (p.Leu270=) n.1334C= c.1158C= (p.Arg386=) | |
4 | g.6300944C>G | CA438368114 | WFS1 | c.1185C>G (p.Arg395=) c.1126C>G c.1149C>G (p.Arg383=) c.900C>G (p.Arg300=) c.808C>G (p.Leu270Val) n.1334C>G c.1158C>G (p.Arg386=) | |
4 | g.6300944C>T | CA438368115 | WFS1 | c.1185C>T (p.Arg395=) c.1126C>T c.1149C>T (p.Arg383=) c.900C>T (p.Arg300=) c.808C>T (p.Leu270Phe) n.1334C>T c.1158C>T (p.Arg386=) | ClinVar dbSNP gnomAD v4 |
4 | g.6300945T>A | CA356174344 | WFS1 | c.1186T>A (p.Phe396Ile) c.1127T>A c.1150T>A (p.Phe384Ile) c.901T>A (p.Phe301Ile) c.809T>A (p.Leu270His) n.1335T>A c.1159T>A (p.Phe387Ile) | |
4 | g.6300945T>C | CA356174346 | WFS1 | c.1186T>C (p.Phe396Leu) c.1127T>C c.1150T>C (p.Phe384Leu) c.901T>C (p.Phe301Leu) c.809T>C (p.Leu270Pro) n.1335T>C c.1159T>C (p.Phe387Leu) | gnomAD v4 |
4 | g.6300945T>G | CA356174345 | WFS1 | c.1186T>G (p.Phe396Val) c.1127T>G c.1150T>G (p.Phe384Val) c.901T>G (p.Phe301Val) c.809T>G (p.Leu270Arg) n.1335T>G c.1159T>G (p.Phe387Val) | |
4 | g.6300946T>A | CA356174347 | WFS1 | c.1187T>A (p.Phe396Tyr) c.1128T>A c.1151T>A (p.Phe384Tyr) c.902T>A (p.Phe301Tyr) c.810T>A (p.Leu270=) n.1336T>A c.1160T>A (p.Phe387Tyr) | |
4 | g.6300946T>C | CA356174348 | WFS1 | c.1187T>C (p.Phe396Ser) c.1128T>C c.1151T>C (p.Phe384Ser) c.902T>C (p.Phe301Ser) c.810T>C (p.Leu270=) n.1336T>C c.1160T>C (p.Phe387Ser) | |
4 | g.6300946T>G | CA356174349 | WFS1 | c.1187T>G (p.Phe396Cys) c.1128T>G c.1151T>G (p.Phe384Cys) c.902T>G (p.Phe301Cys) c.810T>G (p.Leu270=) n.1336T>G c.1160T>G (p.Phe387Cys) | |
4 | g.6300947C>A | CA356174350 | WFS1 | c.1188C>A (p.Phe396Leu) c.1129C>A c.1152C>A (p.Phe384Leu) c.903C>A (p.Phe301Leu) c.811C>A (p.Arg271=) n.1337C>A c.1161C>A (p.Phe387Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300947C= | CA1435772437 | WFS1 | c.1188C= (p.Phe396=) c.1129C= c.1152C= (p.Phe384=) c.903C= (p.Phe301=) c.811C= (p.Arg271=) n.1337C= c.1161C= (p.Phe387=) | |
4 | g.6300947C>G | CA356174351 | WFS1 | c.1188C>G (p.Phe396Leu) c.1129C>G c.1152C>G (p.Phe384Leu) c.903C>G (p.Phe301Leu) c.811C>G (p.Arg271Gly) n.1337C>G c.1161C>G (p.Phe387Leu) | dbSNP gnomAD v4 |
4 | g.6300947C>T | CA182616 | WFS1 | c.1188C>T (p.Phe396=) c.1129C>T c.1152C>T (p.Phe384=) c.903C>T (p.Phe301=) c.811C>T (p.Arg271Ter) n.1337C>T c.1161C>T (p.Phe387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300948del | CA2760284697 | WFS1 | c.1189del (p.Glu397SerfsTer?) c.1130del c.1153del (p.Glu385SerfsTer?) c.904del (p.Glu302SerfsTer?) c.812del (p.Arg271GlnfsTer?) n.1338del c.1162del (p.Glu388SerfsTer?) | |
4 | g.6300948G>A | CA295789 | WFS1 | c.1189G>A (p.Glu397Lys) c.1130G>A c.1153G>A (p.Glu385Lys) c.904G>A (p.Glu302Lys) c.812G>A (p.Arg271Gln) n.1338G>A c.1162G>A (p.Glu388Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300948G>C | CA356174352 | WFS1 | c.1189G>C (p.Glu397Gln) c.1130G>C c.1153G>C (p.Glu385Gln) c.904G>C (p.Glu302Gln) c.812G>C (p.Arg271Pro) n.1338G>C c.1162G>C (p.Glu388Gln) | ClinVar gnomAD v4 |
4 | g.6300948G= | CA1435772441 | WFS1 | c.1189G= (p.Glu397=) c.1130G= c.1153G= (p.Glu385=) c.904G= (p.Glu302=) c.812G= (p.Arg271=) n.1338G= c.1162G= (p.Glu388=) | |
4 | g.6300948G>T | CA356174353 | WFS1 | c.1189G>T (p.Glu397Ter) c.1130G>T c.1153G>T (p.Glu385Ter) c.904G>T (p.Glu302Ter) c.812G>T (p.Arg271Leu) n.1338G>T c.1162G>T (p.Glu388Ter) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300949A>C | CA356174354 | WFS1 | c.1190A>C (p.Glu397Ala) c.1131A>C c.1154A>C (p.Glu385Ala) c.905A>C (p.Glu302Ala) c.813A>C (p.Arg271=) n.1339A>C c.1163A>C (p.Glu388Ala) | |
4 | g.6300949A>G | CA356174355 | WFS1 | c.1190A>G (p.Glu397Gly) c.1131A>G c.1154A>G (p.Glu385Gly) c.905A>G (p.Glu302Gly) c.813A>G (p.Arg271=) n.1339A>G c.1163A>G (p.Glu388Gly) | gnomAD v4 |
4 | g.6300949A>T | CA356174356 | WFS1 | c.1190A>T (p.Glu397Val) c.1131A>T c.1154A>T (p.Glu385Val) c.905A>T (p.Glu302Val) c.813A>T (p.Arg271=) n.1339A>T c.1163A>T (p.Glu388Val) | |
4 | g.6300950G>A | CA438368121 | WFS1 | c.1191G>A (p.Glu397=) c.1132G>A c.1155G>A (p.Glu385=) c.906G>A (p.Glu302=) c.814G>A (p.Ala272Thr) n.1340G>A c.1164G>A (p.Glu388=) | |
4 | g.6300950G>C | CA356174357 | WFS1 | c.1191G>C (p.Glu397Asp) c.1132G>C c.1155G>C (p.Glu385Asp) c.906G>C (p.Glu302Asp) c.814G>C (p.Ala272Pro) n.1340G>C c.1164G>C (p.Glu388Asp) | |
4 | g.6300950G>T | CA356174358 | WFS1 | c.1191G>T (p.Glu397Asp) c.1132G>T c.1155G>T (p.Glu385Asp) c.906G>T (p.Glu302Asp) c.814G>T (p.Ala272Ser) n.1340G>T c.1164G>T (p.Glu388Asp) | |
4 | g.6300950_6300952del | CA2760284702 | WFS1 | c.1191_1193del (p.Glu397_Pro398delinsAsp) c.1132_1134del c.1155_1157del (p.Glu385_Pro386delinsAsp) c.906_908del (p.Glu302_Pro303delinsAsp) c.814_816del (p.Ala272del) n.1340_1342del c.1164_1166del (p.Glu388_Pro389delinsAsp) | |
4 | g.6300951C>A | CA356174359 | WFS1 | c.1192C>A (p.Pro398Thr) c.1133C>A c.1156C>A (p.Pro386Thr) c.907C>A (p.Pro303Thr) c.815C>A (p.Ala272Asp) n.1341C>A c.1165C>A (p.Pro389Thr) | |
4 | g.6300951C>G | CA356174360 | WFS1 | c.1192C>G (p.Pro398Ala) c.1133C>G c.1156C>G (p.Pro386Ala) c.907C>G (p.Pro303Ala) c.815C>G (p.Ala272Gly) n.1341C>G c.1165C>G (p.Pro389Ala) | |
4 | g.6300951C>T | CA356174361 | WFS1 | c.1192C>T (p.Pro398Ser) c.1133C>T c.1156C>T (p.Pro386Ser) c.907C>T (p.Pro303Ser) c.815C>T (p.Ala272Val) n.1341C>T c.1165C>T (p.Pro389Ser) | gnomAD v4 COSMIC |
4 | g.6300952C>A | CA356174362 | WFS1 | c.1193C>A (p.Pro398His) c.1134C>A c.1157C>A (p.Pro386His) c.908C>A (p.Pro303His) c.816C>A (p.Ala272=) n.1342C>A c.1166C>A (p.Pro389His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300952C= | CA1435772442 | WFS1 | c.1193C= (p.Pro398=) c.1134C= c.1157C= (p.Pro386=) c.908C= (p.Pro303=) c.816C= (p.Ala272=) n.1342C= c.1166C= (p.Pro389=) | |
4 | g.6300952C>G | CA356174363 | WFS1 | c.1193C>G (p.Pro398Arg) c.1134C>G c.1157C>G (p.Pro386Arg) c.908C>G (p.Pro303Arg) c.816C>G (p.Ala272=) n.1342C>G c.1166C>G (p.Pro389Arg) | |
4 | g.6300952C>T | CA356174364 | WFS1 | c.1193C>T (p.Pro398Leu) c.1134C>T c.1157C>T (p.Pro386Leu) c.908C>T (p.Pro303Leu) c.816C>T (p.Ala272=) n.1342C>T c.1166C>T (p.Pro389Leu) | COSMIC |
4 | g.6300953C>A | CA438368124 | WFS1 | c.1194C>A (p.Pro398=) c.1135C>A c.1158C>A (p.Pro386=) c.909C>A (p.Pro303=) c.817C>A (p.Gln273Lys) n.1343C>A c.1167C>A (p.Pro389=) | |
4 | g.6300953C= | CA1435772444 | WFS1 | c.1194C= (p.Pro398=) c.1135C= c.1158C= (p.Pro386=) c.909C= (p.Pro303=) c.817C= (p.Gln273=) n.1343C= c.1167C= (p.Pro389=) | |
4 | g.6300953C>G | CA438368123 | WFS1 | c.1194C>G (p.Pro398=) c.1135C>G c.1158C>G (p.Pro386=) c.909C>G (p.Pro303=) c.817C>G (p.Gln273Glu) n.1343C>G c.1167C>G (p.Pro389=) | ClinVar dbSNP gnomAD v4 |
4 | g.6300953C>T | CA291628 | WFS1 | c.1194C>T (p.Pro398=) c.1135C>T c.1158C>T (p.Pro386=) c.909C>T (p.Pro303=) c.817C>T (p.Gln273Ter) n.1343C>T c.1167C>T (p.Pro389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300954A= | CA1435772446 | WFS1 | c.1195A= (p.Asn399=) c.1136A= c.1159A= (p.Asn387=) c.910A= (p.Asn304=) c.818A= (p.Gln273=) n.1344A= c.1168A= (p.Asn390=) | |
4 | g.6300954A>C | CA356174365 | WFS1 | c.1195A>C (p.Asn399His) c.1136A>C c.1159A>C (p.Asn387His) c.910A>C (p.Asn304His) c.818A>C (p.Gln273Pro) n.1344A>C c.1168A>C (p.Asn390His) | |
4 | g.6300954A>G | CA2839239 | WFS1 | c.1195A>G (p.Asn399Asp) c.1136A>G c.1159A>G (p.Asn387Asp) c.910A>G (p.Asn304Asp) c.818A>G (p.Gln273Arg) n.1344A>G c.1168A>G (p.Asn390Asp) | dbSNP ExAC gnomAD v2 |
4 | g.6300954A>T | CA356174366 | WFS1 | c.1195A>T (p.Asn399Tyr) c.1136A>T c.1159A>T (p.Asn387Tyr) c.910A>T (p.Asn304Tyr) c.818A>T (p.Gln273Leu) n.1344A>T c.1168A>T (p.Asn390Tyr) | |
4 | g.6300955A>C | CA356174368 | WFS1 | c.1196A>C (p.Asn399Thr) c.1137A>C c.1160A>C (p.Asn387Thr) c.911A>C (p.Asn304Thr) c.819A>C (p.Gln273His) n.1345A>C c.1169A>C (p.Asn390Thr) | |
4 | g.6300955A>G | CA356174369 | WFS1 | c.1196A>G (p.Asn399Ser) c.1137A>G c.1160A>G (p.Asn387Ser) c.911A>G (p.Asn304Ser) c.819A>G (p.Gln273=) n.1345A>G c.1169A>G (p.Asn390Ser) | gnomAD v4 |
4 | g.6300955A>T | CA356174367 | WFS1 | c.1196A>T (p.Asn399Ile) c.1137A>T c.1160A>T (p.Asn387Ile) c.911A>T (p.Asn304Ile) c.819A>T (p.Gln273His) n.1345A>T c.1169A>T (p.Asn390Ile) | gnomAD v4 |
4 | g.6300956C>A | CA356174370 | WFS1 | c.1197C>A (p.Asn399Lys) c.1138C>A c.1161C>A (p.Asn387Lys) c.912C>A (p.Asn304Lys) c.820C>A (p.Pro274Thr) n.1346C>A c.1170C>A (p.Asn390Lys) | |
4 | g.6300956C>G | CA356174371 | WFS1 | c.1197C>G (p.Asn399Lys) c.1138C>G c.1161C>G (p.Asn387Lys) c.912C>G (p.Asn304Lys) c.820C>G (p.Pro274Ala) n.1346C>G c.1170C>G (p.Asn390Lys) | gnomAD v4 |
4 | g.6300956C>T | CA438368126 | WFS1 | c.1197C>T (p.Asn399=) c.1138C>T c.1161C>T (p.Asn387=) c.912C>T (p.Asn304=) c.820C>T (p.Pro274Ser) n.1346C>T c.1170C>T (p.Asn390=) | |
4 | g.6300957C>A | CA356174372 | WFS1 | c.1198C>A (p.Leu400Met) c.1139C>A c.1162C>A (p.Leu388Met) c.913C>A (p.Leu305Met) c.821C>A (p.Pro274His) n.1347C>A c.1171C>A (p.Leu391Met) | |
4 | g.6300957C= | CA1435772448 | WFS1 | c.1198C= (p.Leu400=) c.1139C= c.1162C= (p.Leu388=) c.913C= (p.Leu305=) c.821C= (p.Pro274=) n.1347C= c.1171C= (p.Leu391=) | |
4 | g.6300957C>G | CA356174373 | WFS1 | c.1198C>G (p.Leu400Val) c.1139C>G c.1162C>G (p.Leu388Val) c.913C>G (p.Leu305Val) c.821C>G (p.Pro274Arg) n.1347C>G c.1171C>G (p.Leu391Val) | ClinVar dbSNP |
4 | g.6300957C>T | CA438368127 | WFS1 | c.1198C>T (p.Leu400=) c.1139C>T c.1162C>T (p.Leu388=) c.913C>T (p.Leu305=) c.821C>T (p.Pro274Leu) n.1347C>T c.1171C>T (p.Leu391=) | |
4 | g.6300958T>A | CA356174374 | WFS1 | c.1199T>A (p.Leu400Gln) c.1140T>A c.1163T>A (p.Leu388Gln) c.914T>A (p.Leu305Gln) c.822T>A (p.Pro274=) n.1348T>A c.1172T>A (p.Leu391Gln) | |
4 | g.6300958T>C | CA356174375 | WFS1 | c.1199T>C (p.Leu400Pro) c.1140T>C c.1163T>C (p.Leu388Pro) c.914T>C (p.Leu305Pro) c.822T>C (p.Pro274=) n.1348T>C c.1172T>C (p.Leu391Pro) | |
4 | g.6300958T>G | CA356174376 | WFS1 | c.1199T>G (p.Leu400Arg) c.1140T>G c.1163T>G (p.Leu388Arg) c.914T>G (p.Leu305Arg) c.822T>G (p.Pro274=) n.1348T>G c.1172T>G (p.Leu391Arg) | gnomAD v4 |