Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.6300959G>A | CA438368131 | WFS1 | c.1200G>A (p.Leu400=) c.1141G>A c.1164G>A (p.Leu388=) c.915G>A (p.Leu305=) c.823G>A (p.Gly275Arg) n.1349G>A c.1173G>A (p.Leu391=) | |
4 | g.6300959G>C | CA438368132 | WFS1 | c.1200G>C (p.Leu400=) c.1141G>C c.1164G>C (p.Leu388=) c.915G>C (p.Leu305=) c.823G>C (p.Gly275Arg) n.1349G>C c.1173G>C (p.Leu391=) | gnomAD v4 |
4 | g.6300959G>T | CA438368133 | WFS1 | c.1200G>T (p.Leu400=) c.1141G>T c.1164G>T (p.Leu388=) c.915G>T (p.Leu305=) c.823G>T (p.Gly275Ter) n.1349G>T c.1173G>T (p.Leu391=) | gnomAD v4 |
4 | g.6300960G>A | CA356174377 | WFS1 | c.1201G>A (p.Asp401Asn) c.1142G>A c.1165G>A (p.Asp389Asn) c.916G>A (p.Asp306Asn) c.824G>A (p.Gly275Glu) n.1350G>A c.1174G>A (p.Asp392Asn) | COSMIC |
4 | g.6300960G>C | CA2839240 | WFS1 | c.1201G>C (p.Asp401His) c.1142G>C c.1165G>C (p.Asp389His) c.916G>C (p.Asp306His) c.824G>C (p.Gly275Ala) n.1350G>C c.1174G>C (p.Asp392His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300960G= | CA1435772450 | WFS1 | c.1201G= (p.Asp401=) c.1142G= c.1165G= (p.Asp389=) c.916G= (p.Asp306=) c.824G= (p.Gly275=) n.1350G= c.1174G= (p.Asp392=) | |
4 | g.6300960G>T | CA356174378 | WFS1 | c.1201G>T (p.Asp401Tyr) c.1142G>T c.1165G>T (p.Asp389Tyr) c.916G>T (p.Asp306Tyr) c.824G>T (p.Gly275Val) n.1350G>T c.1174G>T (p.Asp392Tyr) | |
4 | g.6300961A= | CA1435772451 | WFS1 | c.1202A= (p.Asp401=) c.1143A= c.1166A= (p.Asp389=) c.917A= (p.Asp306=) c.825A= (p.Gly275=) n.1351A= c.1175A= (p.Asp392=) | |
4 | g.6300961A>C | CA2839241 | WFS1 | c.1202A>C (p.Asp401Ala) c.1143A>C c.1166A>C (p.Asp389Ala) c.917A>C (p.Asp306Ala) c.825A>C (p.Gly275=) n.1351A>C c.1175A>C (p.Asp392Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300961A>G | CA356174379 | WFS1 | c.1202A>G (p.Asp401Gly) c.1143A>G c.1166A>G (p.Asp389Gly) c.917A>G (p.Asp306Gly) c.825A>G (p.Gly275=) n.1351A>G c.1175A>G (p.Asp392Gly) | gnomAD v4 |
4 | g.6300961A>T | CA356174380 | WFS1 | c.1202A>T (p.Asp401Val) c.1143A>T c.1166A>T (p.Asp389Val) c.917A>T (p.Asp306Val) c.825A>T (p.Gly275=) n.1351A>T c.1175A>T (p.Asp392Val) | |
4 | g.6300962T>A | CA356174381 | WFS1 | c.1203T>A (p.Asp401Glu) c.1144T>A c.1167T>A (p.Asp389Glu) c.918T>A (p.Asp306Glu) c.826T>A (p.Cys276Ser) n.1352T>A c.1176T>A (p.Asp392Glu) | dbSNP |
4 | g.6300962T>C | CA438368135 | WFS1 | c.1203T>C (p.Asp401=) c.1144T>C c.1167T>C (p.Asp389=) c.918T>C (p.Asp306=) c.826T>C (p.Cys276Arg) n.1352T>C c.1176T>C (p.Asp392=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300962T>G | CA323617 | WFS1 | c.1203T>G (p.Asp401Glu) c.1144T>G c.1167T>G (p.Asp389Glu) c.918T>G (p.Asp306Glu) c.826T>G (p.Cys276Gly) n.1352T>G c.1176T>G (p.Asp392Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300962T= | CA1435772454 | WFS1 | c.1203T= (p.Asp401=) c.1144T= c.1167T= (p.Asp389=) c.918T= (p.Asp306=) c.826T= (p.Cys276=) n.1352T= c.1176T= (p.Asp392=) | |
4 | g.6300963G>A | CA356174382 | WFS1 | c.1204G>A (p.Val402Met) c.1145G>A c.1168G>A (p.Val390Met) c.919G>A (p.Val307Met) c.827G>A (p.Cys276Tyr) n.1353G>A c.1177G>A (p.Val393Met) | |
4 | g.6300963G>C | CA356174383 | WFS1 | c.1204G>C (p.Val402Leu) c.1145G>C c.1168G>C (p.Val390Leu) c.919G>C (p.Val307Leu) c.827G>C (p.Cys276Ser) n.1353G>C c.1177G>C (p.Val393Leu) | |
4 | g.6300963G= | CA1435772457 | WFS1 | c.1204G= (p.Val402=) c.1145G= c.1168G= (p.Val390=) c.919G= (p.Val307=) c.827G= (p.Cys276=) n.1353G= c.1177G= (p.Val393=) | |
4 | g.6300963G>T | CA356174384 | WFS1 | c.1204G>T (p.Val402Leu) c.1145G>T c.1168G>T (p.Val390Leu) c.919G>T (p.Val307Leu) c.827G>T (p.Cys276Phe) n.1353G>T c.1177G>T (p.Val393Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300964T>A | CA356174385 | WFS1 | c.1205T>A (p.Val402Glu) c.1146T>A c.1169T>A (p.Val390Glu) c.920T>A (p.Val307Glu) c.828T>A (p.Cys276Ter) n.1354T>A c.1178T>A (p.Val393Glu) | |
4 | g.6300964T>C | CA356174386 | WFS1 | c.1205T>C (p.Val402Ala) c.1146T>C c.1169T>C (p.Val390Ala) c.920T>C (p.Val307Ala) c.828T>C (p.Cys276=) n.1354T>C c.1178T>C (p.Val393Ala) | gnomAD v4 |
4 | g.6300964T>G | CA356174387 | WFS1 | c.1205T>G (p.Val402Gly) c.1146T>G c.1169T>G (p.Val390Gly) c.920T>G (p.Val307Gly) c.828T>G (p.Cys276Trp) n.1354T>G c.1178T>G (p.Val393Gly) | |
4 | g.6300965G>A | CA438368137 | WFS1 | c.1206G>A (p.Val402=) c.1147G>A c.1170G>A (p.Val390=) c.921G>A (p.Val307=) c.829G>A (p.Gly277Arg) n.1355G>A c.1179G>A (p.Val393=) | ClinVar gnomAD v4 |
4 | g.6300965G>C | CA438368139 | WFS1 | c.1206G>C (p.Val402=) c.1147G>C c.1170G>C (p.Val390=) c.921G>C (p.Val307=) c.829G>C (p.Gly277Arg) n.1355G>C c.1179G>C (p.Val393=) | |
4 | g.6300965G>T | CA438368138 | WFS1 | c.1206G>T (p.Val402=) c.1147G>T c.1170G>T (p.Val390=) c.921G>T (p.Val307=) c.829G>T (p.Gly277Ter) n.1355G>T c.1179G>T (p.Val393=) | |
4 | g.6300966del | CA2586973609 | WFS1 | c.1207del (p.Glu403SerfsTer?) c.1148del c.1171del (p.Glu391SerfsTer?) c.922del (p.Glu308SerfsTer?) c.830del (p.Gly277GlufsTer?) n.1356del c.1180del (p.Glu394SerfsTer?) | |
4 | g.6300966G>A | CA2839242 | WFS1 | c.1207G>A (p.Glu403Lys) c.1148G>A c.1171G>A (p.Glu391Lys) c.922G>A (p.Glu308Lys) c.830G>A (p.Gly277Glu) n.1356G>A c.1180G>A (p.Glu394Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300966G>C | CA356174388 | WFS1 | c.1207G>C (p.Glu403Gln) c.1148G>C c.1171G>C (p.Glu391Gln) c.922G>C (p.Glu308Gln) c.830G>C (p.Gly277Ala) n.1356G>C c.1180G>C (p.Glu394Gln) | |
4 | g.6300966G= | CA1435772459 | WFS1 | c.1207G= (p.Glu403=) c.1148G= c.1171G= (p.Glu391=) c.922G= (p.Glu308=) c.830G= (p.Gly277=) n.1356G= c.1180G= (p.Glu394=) | |
4 | g.6300966G>T | CA356174389 | WFS1 | c.1207G>T (p.Glu403Ter) c.1148G>T c.1171G>T (p.Glu391Ter) c.922G>T (p.Glu308Ter) c.830G>T (p.Gly277Val) n.1356G>T c.1180G>T (p.Glu394Ter) | |
4 | g.6300967A= | CA1435772460 | WFS1 | c.1208A= (p.Glu403=) c.1149A= c.1172A= (p.Glu391=) c.923A= (p.Glu308=) c.831A= (p.Gly277=) n.1357A= c.1181A= (p.Glu394=) | |
4 | g.6300967A>C | CA356174390 | WFS1 | c.1208A>C (p.Glu403Ala) c.1149A>C c.1172A>C (p.Glu391Ala) c.923A>C (p.Glu308Ala) c.831A>C (p.Gly277=) n.1357A>C c.1181A>C (p.Glu394Ala) | |
4 | g.6300967A>G | CA2839243 | WFS1 | c.1208A>G (p.Glu403Gly) c.1149A>G c.1172A>G (p.Glu391Gly) c.923A>G (p.Glu308Gly) c.831A>G (p.Gly277=) n.1357A>G c.1181A>G (p.Glu394Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6300967A>T | CA356174391 | WFS1 | c.1208A>T (p.Glu403Val) c.1149A>T c.1172A>T (p.Glu391Val) c.923A>T (p.Glu308Val) c.831A>T (p.Gly277=) n.1357A>T c.1181A>T (p.Glu394Val) | |
4 | g.6300968G>A | CA2839244 | WFS1 | c.1209G>A (p.Glu403=) c.1150G>A c.1173G>A (p.Glu391=) c.924G>A (p.Glu308=) c.832G>A (p.Ala278Thr) n.1358G>A c.1182G>A (p.Glu394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300968G>C | CA356174393 | WFS1 | c.1209G>C (p.Glu403Asp) c.1150G>C c.1173G>C (p.Glu391Asp) c.924G>C (p.Glu308Asp) c.832G>C (p.Ala278Pro) n.1358G>C c.1182G>C (p.Glu394Asp) | |
4 | g.6300968G= | CA1435772463 | WFS1 | c.1209G= (p.Glu403=) c.1150G= c.1173G= (p.Glu391=) c.924G= (p.Glu308=) c.832G= (p.Ala278=) n.1358G= c.1182G= (p.Glu394=) | |
4 | g.6300968G>T | CA356174392 | WFS1 | c.1209G>T (p.Glu403Asp) c.1150G>T c.1173G>T (p.Glu391Asp) c.924G>T (p.Glu308Asp) c.832G>T (p.Ala278Ser) n.1358G>T c.1182G>T (p.Glu394Asp) | gnomAD v4 |
4 | g.6300969C>A | CA356174394 | WFS1 | c.1210C>A (p.Gln404Lys) c.1151C>A c.1174C>A (p.Gln392Lys) c.925C>A (p.Gln309Lys) c.833C>A (p.Ala278Glu) n.1359C>A c.1183C>A (p.Gln395Lys) | |
4 | g.6300969C= | CA1435772466 | WFS1 | c.1210C= (p.Gln404=) c.1151C= c.1174C= (p.Gln392=) c.925C= (p.Gln309=) c.833C= (p.Ala278=) n.1359C= c.1183C= (p.Gln395=) | |
4 | g.6300969C>G | CA356174395 | WFS1 | c.1210C>G (p.Gln404Glu) c.1151C>G c.1174C>G (p.Gln392Glu) c.925C>G (p.Gln309Glu) c.833C>G (p.Ala278Gly) n.1359C>G c.1183C>G (p.Gln395Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300969C>T | CA356174396 | WFS1 | c.1210C>T (p.Gln404Ter) c.1151C>T c.1174C>T (p.Gln392Ter) c.925C>T (p.Gln309Ter) c.833C>T (p.Ala278Val) n.1359C>T c.1183C>T (p.Gln395Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300970A= | CA1435772468 | WFS1 | c.1211A= (p.Gln404=) c.1152A= c.1175A= (p.Gln392=) c.926A= (p.Gln309=) c.834A= (p.Ala278=) n.1360A= c.1184A= (p.Gln395=) | |
4 | g.6300970A>C | CA356174397 | WFS1 | c.1211A>C (p.Gln404Pro) c.1152A>C c.1175A>C (p.Gln392Pro) c.926A>C (p.Gln309Pro) c.834A>C (p.Ala278=) n.1360A>C c.1184A>C (p.Gln395Pro) | |
4 | g.6300970A>G | CA356174398 | WFS1 | c.1211A>G (p.Gln404Arg) c.1152A>G c.1175A>G (p.Gln392Arg) c.926A>G (p.Gln309Arg) c.834A>G (p.Ala278=) n.1360A>G c.1184A>G (p.Gln395Arg) | |
4 | g.6300970A>T | CA356174399 | WFS1 | c.1211A>T (p.Gln404Leu) c.1152A>T c.1175A>T (p.Gln392Leu) c.926A>T (p.Gln309Leu) c.834A>T (p.Ala278=) n.1360A>T c.1184A>T (p.Gln395Leu) | dbSNP gnomAD v2 COSMIC |
4 | g.6300971G>A | CA438368142 | WFS1 | c.1212G>A (p.Gln404=) c.1153G>A c.1176G>A (p.Gln392=) c.927G>A (p.Gln309=) c.835G>A (p.Gly279Ser) n.1361G>A c.1185G>A (p.Gln395=) | |
4 | g.6300971G>C | CA356174400 | WFS1 | c.1212G>C (p.Gln404His) c.1153G>C c.1176G>C (p.Gln392His) c.927G>C (p.Gln309His) c.835G>C (p.Gly279Arg) n.1361G>C c.1185G>C (p.Gln395His) | |
4 | g.6300971G>T | CA356174401 | WFS1 | c.1212G>T (p.Gln404His) c.1153G>T c.1176G>T (p.Gln392His) c.927G>T (p.Gln309His) c.835G>T (p.Gly279Cys) n.1361G>T c.1185G>T (p.Gln395His) | |
4 | g.6300972G>A | CA356174402 | WFS1 | c.1213G>A (p.Ala405Thr) c.1154G>A c.1177G>A (p.Ala393Thr) c.928G>A (p.Ala310Thr) c.836G>A (p.Gly279Asp) n.1362G>A c.1186G>A (p.Ala396Thr) | ClinVar dbSNP |
4 | g.6300972G>C | CA356174404 | WFS1 | c.1213G>C (p.Ala405Pro) c.1154G>C c.1177G>C (p.Ala393Pro) c.928G>C (p.Ala310Pro) c.836G>C (p.Gly279Ala) n.1362G>C c.1186G>C (p.Ala396Pro) | |
4 | g.6300972G= | CA1435772469 | WFS1 | c.1213G= (p.Ala405=) c.1154G= c.1177G= (p.Ala393=) c.928G= (p.Ala310=) c.836G= (p.Gly279=) n.1362G= c.1186G= (p.Ala396=) | |
4 | g.6300972G>T | CA356174403 | WFS1 | c.1213G>T (p.Ala405Ser) c.1154G>T c.1177G>T (p.Ala393Ser) c.928G>T (p.Ala310Ser) c.836G>T (p.Gly279Val) n.1362G>T c.1186G>T (p.Ala396Ser) | |
4 | g.6300973C>A | CA356174405 | WFS1 | c.1214C>A (p.Ala405Asp) c.1155C>A c.1178C>A (p.Ala393Asp) c.929C>A (p.Ala310Asp) c.837C>A (p.Gly279=) n.1363C>A c.1187C>A (p.Ala396Asp) | |
4 | g.6300973C= | CA1435772471 | WFS1 | c.1214C= (p.Ala405=) c.1155C= c.1178C= (p.Ala393=) c.929C= (p.Ala310=) c.837C= (p.Gly279=) n.1363C= c.1187C= (p.Ala396=) | |
4 | g.6300973C>G | CA356174406 | WFS1 | c.1214C>G (p.Ala405Gly) c.1155C>G c.1178C>G (p.Ala393Gly) c.929C>G (p.Ala310Gly) c.837C>G (p.Gly279=) n.1363C>G c.1187C>G (p.Ala396Gly) | dbSNP gnomAD v4 |
4 | g.6300973C>T | CA356174407 | WFS1 | c.1214C>T (p.Ala405Val) c.1155C>T c.1178C>T (p.Ala393Val) c.929C>T (p.Ala310Val) c.837C>T (p.Gly279=) n.1363C>T c.1187C>T (p.Ala396Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300974C>A | CA438368147 | WFS1 | c.1215C>A (p.Ala405=) c.1156C>A c.1179C>A (p.Ala393=) c.930C>A (p.Ala310=) c.838C>A (p.Arg280=) n.1364C>A c.1188C>A (p.Ala396=) | |
4 | g.6300974C= | CA1435772472 | WFS1 | c.1215C= (p.Ala405=) c.1156C= c.1179C= (p.Ala393=) c.930C= (p.Ala310=) c.838C= (p.Arg280=) n.1364C= c.1188C= (p.Ala396=) | |
4 | g.6300974C>G | CA438368146 | WFS1 | c.1215C>G (p.Ala405=) c.1156C>G c.1179C>G (p.Ala393=) c.930C>G (p.Ala310=) c.838C>G (p.Arg280Gly) n.1364C>G c.1188C>G (p.Ala396=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300974C>T | CA2839245 | WFS1 | c.1215C>T (p.Ala405=) c.1156C>T c.1179C>T (p.Ala393=) c.930C>T (p.Ala310=) c.838C>T (p.Arg280Ter) n.1364C>T c.1188C>T (p.Ala396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300975G>A | CA2839246 | WFS1 | c.1216G>A (p.Glu406Lys) c.1157G>A c.1180G>A (p.Glu394Lys) c.931G>A (p.Glu311Lys) c.839G>A (p.Arg280Gln) n.1365G>A c.1189G>A (p.Glu397Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300975G>C | CA356174409 | WFS1 | c.1216G>C (p.Glu406Gln) c.1157G>C c.1180G>C (p.Glu394Gln) c.931G>C (p.Glu311Gln) c.839G>C (p.Arg280Pro) n.1365G>C c.1189G>C (p.Glu397Gln) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300975G= | CA1435772475 | WFS1 | c.1216G= (p.Glu406=) c.1157G= c.1180G= (p.Glu394=) c.931G= (p.Glu311=) c.839G= (p.Arg280=) n.1365G= c.1189G= (p.Glu397=) | |
4 | g.6300975G>T | CA356174408 | WFS1 | c.1216G>T (p.Glu406Ter) c.1157G>T c.1180G>T (p.Glu394Ter) c.931G>T (p.Glu311Ter) c.839G>T (p.Arg280Leu) n.1365G>T c.1189G>T (p.Glu397Ter) | ClinVar dbSNP gnomAD v2 |
4 | g.6300976A= | CA1435772478 | WFS1 | c.1217A= (p.Glu406=) c.1158A= c.1181A= (p.Glu394=) c.932A= (p.Glu311=) c.840A= (p.Arg280=) n.1366A= c.1190A= (p.Glu397=) | |
4 | g.6300976A>C | CA356174410 | WFS1 | c.1217A>C (p.Glu406Ala) c.1158A>C c.1181A>C (p.Glu394Ala) c.932A>C (p.Glu311Ala) c.840A>C (p.Arg280=) n.1366A>C c.1190A>C (p.Glu397Ala) | dbSNP |
4 | g.6300976A>G | CA356174411 | WFS1 | c.1217A>G (p.Glu406Gly) c.1158A>G c.1181A>G (p.Glu394Gly) c.932A>G (p.Glu311Gly) c.840A>G (p.Arg280=) n.1366A>G c.1190A>G (p.Glu397Gly) | |
4 | g.6300976A>T | CA2839247 | WFS1 | c.1217A>T (p.Glu406Val) c.1158A>T c.1181A>T (p.Glu394Val) c.932A>T (p.Glu311Val) c.840A>T (p.Arg280=) n.1366A>T c.1190A>T (p.Glu397Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300977G>A | CA438368149 | WFS1 | c.1218G>A (p.Glu406=) c.1159G>A c.1182G>A (p.Glu394=) c.933G>A (p.Glu311=) c.841G>A (p.Gly281Ser) n.1367G>A c.1191G>A (p.Glu397=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300977G>C | CA356174412 | WFS1 | c.1218G>C (p.Glu406Asp) c.1159G>C c.1182G>C (p.Glu394Asp) c.933G>C (p.Glu311Asp) c.841G>C (p.Gly281Arg) n.1367G>C c.1191G>C (p.Glu397Asp) | |
4 | g.6300977G= | CA1435772480 | WFS1 | c.1218G= (p.Glu406=) c.1159G= c.1182G= (p.Glu394=) c.933G= (p.Glu311=) c.841G= (p.Gly281=) n.1367G= c.1191G= (p.Glu397=) | |
4 | g.6300977G>T | CA2839248 | WFS1 | c.1218G>T (p.Glu406Asp) c.1159G>T c.1182G>T (p.Glu394Asp) c.933G>T (p.Glu311Asp) c.841G>T (p.Gly281Cys) n.1367G>T c.1191G>T (p.Glu397Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300978G>A | CA91796231 | WFS1 | c.1219G>A (p.Val407Ile) c.1160G>A c.1183G>A (p.Val395Ile) c.934G>A (p.Val312Ile) c.842G>A (p.Gly281Asp) n.1368G>A c.1192G>A (p.Val398Ile) | dbSNP |
4 | g.6300978G>C | CA356174413 | WFS1 | c.1219G>C (p.Val407Leu) c.1160G>C c.1183G>C (p.Val395Leu) c.934G>C (p.Val312Leu) c.842G>C (p.Gly281Ala) n.1368G>C c.1192G>C (p.Val398Leu) | gnomAD v4 |
4 | g.6300978G= | CA1435772483 | WFS1 | c.1219G= (p.Val407=) c.1160G= c.1183G= (p.Val395=) c.934G= (p.Val312=) c.842G= (p.Gly281=) n.1368G= c.1192G= (p.Val398=) | |
4 | g.6300978G>T | CA356174414 | WFS1 | c.1219G>T (p.Val407Phe) c.1160G>T c.1183G>T (p.Val395Phe) c.934G>T (p.Val312Phe) c.842G>T (p.Gly281Val) n.1368G>T c.1192G>T (p.Val398Phe) | |
4 | g.6300979T>A | CA2839249 | WFS1 | c.1220T>A (p.Val407Asp) c.1161T>A c.1184T>A (p.Val395Asp) c.935T>A (p.Val312Asp) c.843T>A (p.Gly281=) n.1369T>A c.1193T>A (p.Val398Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300979T>C | CA356174415 | WFS1 | c.1220T>C (p.Val407Ala) c.1161T>C c.1184T>C (p.Val395Ala) c.935T>C (p.Val312Ala) c.843T>C (p.Gly281=) n.1369T>C c.1193T>C (p.Val398Ala) | |
4 | g.6300979T>G | CA356174416 | WFS1 | c.1220T>G (p.Val407Gly) c.1161T>G c.1184T>G (p.Val395Gly) c.935T>G (p.Val312Gly) c.843T>G (p.Gly281=) n.1369T>G c.1193T>G (p.Val398Gly) | |
4 | g.6300979T= | CA1435772486 | WFS1 | c.1220T= (p.Val407=) c.1161T= c.1184T= (p.Val395=) c.935T= (p.Val312=) c.843T= (p.Gly281=) n.1369T= c.1193T= (p.Val398=) | |
4 | g.6300980C>A | CA438368153 | WFS1 | c.1221C>A (p.Val407=) c.1162C>A c.1185C>A (p.Val395=) c.936C>A (p.Val312=) c.844C>A (p.Gln282Lys) n.1370C>A c.1194C>A (p.Val398=) | gnomAD v3 gnomAD v4 |
4 | g.6300980C= | CA1435772490 | WFS1 | c.1221C= (p.Val407=) c.1162C= c.1185C= (p.Val395=) c.936C= (p.Val312=) c.844C= (p.Gln282=) n.1370C= c.1194C= (p.Val398=) | |
4 | g.6300980C>G | CA91796232 | WFS1 | c.1221C>G (p.Val407=) c.1162C>G c.1185C>G (p.Val395=) c.936C>G (p.Val312=) c.844C>G (p.Gln282Glu) n.1370C>G c.1194C>G (p.Val398=) | ClinVar dbSNP gnomAD v4 |
4 | g.6300980C>T | CA136330 | WFS1 | c.1221C>T (p.Val407=) c.1162C>T c.1185C>T (p.Val395=) c.936C>T (p.Val312=) c.844C>T (p.Gln282Ter) n.1370C>T c.1194C>T (p.Val398=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300981A>C | CA356174417 | WFS1 | c.1222A>C (p.Asn408His) c.1163A>C c.1186A>C (p.Asn396His) c.937A>C (p.Asn313His) c.845A>C (p.Gln282Pro) n.1371A>C c.1195A>C (p.Asn399His) | |
4 | g.6300981A>G | CA356174419 | WFS1 | c.1222A>G (p.Asn408Asp) c.1163A>G c.1186A>G (p.Asn396Asp) c.937A>G (p.Asn313Asp) c.845A>G (p.Gln282Arg) n.1371A>G c.1195A>G (p.Asn399Asp) | gnomAD v4 |
4 | g.6300981A>T | CA356174418 | WFS1 | c.1222A>T (p.Asn408Tyr) c.1163A>T c.1186A>T (p.Asn396Tyr) c.937A>T (p.Asn313Tyr) c.845A>T (p.Gln282Leu) n.1371A>T c.1195A>T (p.Asn399Tyr) | |
4 | g.6300982A= | CA1435772492 | WFS1 | c.1223A= (p.Asn408=) c.1164A= c.1187A= (p.Asn396=) c.938A= (p.Asn313=) c.846A= (p.Gln282=) n.1372A= c.1196A= (p.Asn399=) | |
4 | g.6300982A>C | CA356174420 | WFS1 | c.1223A>C (p.Asn408Thr) c.1164A>C c.1187A>C (p.Asn396Thr) c.938A>C (p.Asn313Thr) c.846A>C (p.Gln282His) n.1372A>C c.1196A>C (p.Asn399Thr) | ClinVar |
4 | g.6300982A>G | CA2839250 | WFS1 | c.1223A>G (p.Asn408Ser) c.1164A>G c.1187A>G (p.Asn396Ser) c.938A>G (p.Asn313Ser) c.846A>G (p.Gln282=) n.1372A>G c.1196A>G (p.Asn399Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300982A>T | CA356174421 | WFS1 | c.1223A>T (p.Asn408Ile) c.1164A>T c.1187A>T (p.Asn396Ile) c.938A>T (p.Asn313Ile) c.846A>T (p.Gln282His) n.1372A>T c.1196A>T (p.Asn399Ile) | |
4 | g.6300983C>A | CA356174422 | WFS1 | c.1224C>A (p.Asn408Lys) c.1165C>A c.1188C>A (p.Asn396Lys) c.939C>A (p.Asn313Lys) c.847C>A (p.Leu283Ile) n.1373C>A c.1197C>A (p.Asn399Lys) | |
4 | g.6300983C= | CA1435772494 | WFS1 | c.1224C= (p.Asn408=) c.1165C= c.1188C= (p.Asn396=) c.939C= (p.Asn313=) c.847C= (p.Leu283=) n.1373C= c.1197C= (p.Asn399=) | |
4 | g.6300983C>G | CA356174423 | WFS1 | c.1224C>G (p.Asn408Lys) c.1165C>G c.1188C>G (p.Asn396Lys) c.939C>G (p.Asn313Lys) c.847C>G (p.Leu283Val) n.1373C>G c.1197C>G (p.Asn399Lys) | dbSNP |
4 | g.6300983C>T | CA91796233 | WFS1 | c.1224C>T (p.Asn408=) c.1165C>T c.1188C>T (p.Asn396=) c.939C>T (p.Asn313=) c.847C>T (p.Leu283Phe) n.1373C>T c.1197C>T (p.Asn399=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300984T>A | CA356174424 | WFS1 | c.1225T>A (p.Phe409Ile) c.1166T>A c.1189T>A (p.Phe397Ile) c.940T>A (p.Phe314Ile) c.848T>A (p.Leu283His) n.1374T>A c.1198T>A (p.Phe400Ile) | |
4 | g.6300984T>C | CA356174425 | WFS1 | c.1225T>C (p.Phe409Leu) c.1166T>C c.1189T>C (p.Phe397Leu) c.940T>C (p.Phe314Leu) c.848T>C (p.Leu283Pro) n.1374T>C c.1198T>C (p.Phe400Leu) | |
4 | g.6300984T>G | CA356174426 | WFS1 | c.1225T>G (p.Phe409Val) c.1166T>G c.1189T>G (p.Phe397Val) c.940T>G (p.Phe314Val) c.848T>G (p.Leu283Arg) n.1374T>G c.1198T>G (p.Phe400Val) | |
4 | g.6300985T>A | CA356174427 | WFS1 | c.1226T>A (p.Phe409Tyr) c.1167T>A c.1190T>A (p.Phe397Tyr) c.941T>A (p.Phe314Tyr) c.849T>A (p.Leu283=) n.1375T>A c.1199T>A (p.Phe400Tyr) | |
4 | g.6300985T>C | CA356174428 | WFS1 | c.1226T>C (p.Phe409Ser) c.1167T>C c.1190T>C (p.Phe397Ser) c.941T>C (p.Phe314Ser) c.849T>C (p.Leu283=) n.1375T>C c.1199T>C (p.Phe400Ser) | |
4 | g.6300985T>G | CA356174429 | WFS1 | c.1226T>G (p.Phe409Cys) c.1167T>G c.1190T>G (p.Phe397Cys) c.941T>G (p.Phe314Cys) c.849T>G (p.Leu283=) n.1375T>G c.1199T>G (p.Phe400Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300985T= | CA1435772497 | WFS1 | c.1226T= (p.Phe409=) c.1167T= c.1190T= (p.Phe397=) c.941T= (p.Phe314=) c.849T= (p.Leu283=) n.1375T= c.1199T= (p.Phe400=) | |
4 | g.6300986C>A | CA356174430 | WFS1 | c.1227C>A (p.Phe409Leu) c.1168C>A c.1191C>A (p.Phe397Leu) c.942C>A (p.Phe314Leu) c.850C>A (p.Arg284=) n.1376C>A c.1200C>A (p.Phe400Leu) | |
4 | g.6300986C= | CA1435772499 | WFS1 | c.1227C= (p.Phe409=) c.1168C= c.1191C= (p.Phe397=) c.942C= (p.Phe314=) c.850C= (p.Arg284=) n.1376C= c.1200C= (p.Phe400=) | |
4 | g.6300986C>G | CA91796234 | WFS1 | c.1227C>G (p.Phe409Leu) c.1168C>G c.1191C>G (p.Phe397Leu) c.942C>G (p.Phe314Leu) c.850C>G (p.Arg284Gly) n.1376C>G c.1200C>G (p.Phe400Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300986C>T | CA2839251 | WFS1 | c.1227C>T (p.Phe409=) c.1168C>T c.1191C>T (p.Phe397=) c.942C>T (p.Phe314=) c.850C>T (p.Arg284Trp) n.1376C>T c.1200C>T (p.Phe400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6300987G>A | CA356174431 | WFS1 | c.1228G>A (p.Gly410Ser) c.1169G>A c.1192G>A (p.Gly398Ser) c.943G>A (p.Gly315Ser) c.851G>A (p.Arg284Gln) n.1377G>A c.1201G>A (p.Gly401Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300987G>C | CA325363 | WFS1 | c.1228G>C (p.Gly410Arg) c.1169G>C c.1192G>C (p.Gly398Arg) c.943G>C (p.Gly315Arg) c.851G>C (p.Arg284Pro) n.1377G>C c.1201G>C (p.Gly401Arg) | ClinVar dbSNP |
4 | g.6300987G= | CA1435772502 | WFS1 | c.1228G= (p.Gly410=) c.1169G= c.1192G= (p.Gly398=) c.943G= (p.Gly315=) c.851G= (p.Arg284=) n.1377G= c.1201G= (p.Gly401=) | |
4 | g.6300987G>T | CA356174432 | WFS1 | c.1228G>T (p.Gly410Cys) c.1169G>T c.1192G>T (p.Gly398Cys) c.943G>T (p.Gly315Cys) c.851G>T (p.Arg284Leu) n.1377G>T c.1201G>T (p.Gly401Cys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300988G>A | CA356174433 | WFS1 | c.1229G>A (p.Gly410Asp) c.1170G>A c.1193G>A (p.Gly398Asp) c.944G>A (p.Gly315Asp) c.852G>A (p.Arg284=) n.1378G>A c.1202G>A (p.Gly401Asp) | |
4 | g.6300988G>C | CA356174434 | WFS1 | c.1229G>C (p.Gly410Ala) c.1170G>C c.1193G>C (p.Gly398Ala) c.944G>C (p.Gly315Ala) c.852G>C (p.Arg284=) n.1378G>C c.1202G>C (p.Gly401Ala) | |
4 | g.6300988G>T | CA356174435 | WFS1 | c.1229G>T (p.Gly410Val) c.1170G>T c.1193G>T (p.Gly398Val) c.944G>T (p.Gly315Val) c.852G>T (p.Arg284=) n.1378G>T c.1202G>T (p.Gly401Val) | |
4 | g.6300989C>A | CA2839253 | WFS1 | c.1230C>A (p.Gly410=) c.1171C>A c.1194C>A (p.Gly398=) c.945C>A (p.Gly315=) c.853C>A (p.Leu285Met) n.1379C>A c.1203C>A (p.Gly401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300989C= | CA1435772504 | WFS1 | c.1230C= (p.Gly410=) c.1171C= c.1194C= (p.Gly398=) c.945C= (p.Gly315=) c.853C= (p.Leu285=) n.1379C= c.1203C= (p.Gly401=) | |
4 | g.6300989C>G | CA438368158 | WFS1 | c.1230C>G (p.Gly410=) c.1171C>G c.1194C>G (p.Gly398=) c.945C>G (p.Gly315=) c.853C>G (p.Leu285Val) n.1379C>G c.1203C>G (p.Gly401=) | |
4 | g.6300989C>T | CA2839252 | WFS1 | c.1230C>T (p.Gly410=) c.1171C>T c.1194C>T (p.Gly398=) c.945C>T (p.Gly315=) c.853C>T (p.Leu285=) n.1379C>T c.1203C>T (p.Gly401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300990T>A | CA356174436 | WFS1 | c.1231T>A (p.Trp411Arg) c.1172T>A c.1195T>A (p.Trp399Arg) c.946T>A (p.Trp316Arg) c.854T>A (p.Leu285Gln) n.1380T>A c.1204T>A (p.Trp402Arg) | |
4 | g.6300990T>C | CA356174437 | WFS1 | c.1231T>C (p.Trp411Arg) c.1172T>C c.1195T>C (p.Trp399Arg) c.946T>C (p.Trp316Arg) c.854T>C (p.Leu285Pro) n.1380T>C c.1204T>C (p.Trp402Arg) | |
4 | g.6300990T>G | CA320196 | WFS1 | c.1231T>G (p.Trp411Gly) c.1172T>G c.1195T>G (p.Trp399Gly) c.946T>G (p.Trp316Gly) c.854T>G (p.Leu285Arg) n.1380T>G c.1204T>G (p.Trp402Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300990T= | CA1435772508 | WFS1 | c.1231T= (p.Trp411=) c.1172T= c.1195T= (p.Trp399=) c.946T= (p.Trp316=) c.854T= (p.Leu285=) n.1380T= c.1204T= (p.Trp402=) | |
4 | g.6300991G>A | CA356174440 | WFS1 | c.1232G>A (p.Trp411Ter) c.1173G>A c.1196G>A (p.Trp399Ter) c.947G>A (p.Trp316Ter) c.855G>A (p.Leu285=) n.1381G>A c.1205G>A (p.Trp402Ter) | gnomAD v4 |
4 | g.6300991G>C | CA356174439 | WFS1 | c.1232G>C (p.Trp411Ser) c.1173G>C c.1196G>C (p.Trp399Ser) c.947G>C (p.Trp316Ser) c.855G>C (p.Leu285=) n.1381G>C c.1205G>C (p.Trp402Ser) | dbSNP |
4 | g.6300991G= | CA1435772510 | WFS1 | c.1232G= (p.Trp411=) c.1173G= c.1196G= (p.Trp399=) c.947G= (p.Trp316=) c.855G= (p.Leu285=) n.1381G= c.1205G= (p.Trp402=) | |
4 | g.6300991G>T | CA356174438 | WFS1 | c.1232G>T (p.Trp411Leu) c.1173G>T c.1196G>T (p.Trp399Leu) c.947G>T (p.Trp316Leu) c.855G>T (p.Leu285=) n.1381G>T c.1205G>T (p.Trp402Leu) | |
4 | g.6300992G>A | CA2839254 | WFS1 | c.1233G>A (p.Trp411Ter) c.1174G>A c.1197G>A (p.Trp399Ter) c.948G>A (p.Trp316Ter) c.856G>A (p.Glu286Lys) n.1382G>A c.1206G>A (p.Trp402Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300992G>C | CA356174442 | WFS1 | c.1233G>C (p.Trp411Cys) c.1174G>C c.1197G>C (p.Trp399Cys) c.948G>C (p.Trp316Cys) c.856G>C (p.Glu286Gln) n.1382G>C c.1206G>C (p.Trp402Cys) | |
4 | g.6300992G= | CA1435772512 | WFS1 | c.1233G= (p.Trp411=) c.1174G= c.1197G= (p.Trp399=) c.948G= (p.Trp316=) c.856G= (p.Glu286=) n.1382G= c.1206G= (p.Trp402=) | |
4 | g.6300992G>T | CA356174441 | WFS1 | c.1233G>T (p.Trp411Cys) c.1174G>T c.1197G>T (p.Trp399Cys) c.948G>T (p.Trp316Cys) c.856G>T (p.Glu286Ter) n.1382G>T c.1206G>T (p.Trp402Cys) | |
4 | g.6300993A>C | CA356174443 | WFS1 | c.1234A>C (p.Asn412His) c.1175A>C c.1198A>C (p.Asn400His) c.949A>C (p.Asn317His) c.857A>C (p.Glu286Ala) n.1383A>C c.1207A>C (p.Asn403His) | |
4 | g.6300993A>G | CA356174445 | WFS1 | c.1234A>G (p.Asn412Asp) c.1175A>G c.1198A>G (p.Asn400Asp) c.949A>G (p.Asn317Asp) c.857A>G (p.Glu286Gly) n.1383A>G c.1207A>G (p.Asn403Asp) | ClinVar gnomAD v4 |
4 | g.6300993A>T | CA356174444 | WFS1 | c.1234A>T (p.Asn412Tyr) c.1175A>T c.1198A>T (p.Asn400Tyr) c.949A>T (p.Asn317Tyr) c.857A>T (p.Glu286Val) n.1383A>T c.1207A>T (p.Asn403Tyr) | |
4 | g.6300994A= | CA1435772513 | WFS1 | c.1235A= (p.Asn412=) c.1176A= c.1199A= (p.Asn400=) c.950A= (p.Asn317=) c.858A= (p.Glu286=) n.1384A= c.1208A= (p.Asn403=) | |
4 | g.6300994A>C | CA356174446 | WFS1 | c.1235A>C (p.Asn412Thr) c.1176A>C c.1199A>C (p.Asn400Thr) c.950A>C (p.Asn317Thr) c.858A>C (p.Glu286Asp) n.1384A>C c.1208A>C (p.Asn403Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6300994A>G | CA2839255 | WFS1 | c.1235A>G (p.Asn412Ser) c.1176A>G c.1199A>G (p.Asn400Ser) c.950A>G (p.Asn317Ser) c.858A>G (p.Glu286=) n.1384A>G c.1208A>G (p.Asn403Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6300994A>T | CA356174447 | WFS1 | c.1235A>T (p.Asn412Ile) c.1176A>T c.1199A>T (p.Asn400Ile) c.950A>T (p.Asn317Ile) c.858A>T (p.Glu286Asp) n.1384A>T c.1208A>T (p.Asn403Ile) | |
4 | g.6300995C>A | CA356174448 | WFS1 | c.1236C>A (p.Asn412Lys) c.1177C>A c.1200C>A (p.Asn400Lys) c.951C>A (p.Asn317Lys) c.859C>A (p.Pro287Thr) n.1385C>A c.1209C>A (p.Asn403Lys) | |
4 | g.6300995C= | CA1435772515 | WFS1 | c.1236C= (p.Asn412=) c.1177C= c.1200C= (p.Asn400=) c.951C= (p.Asn317=) c.859C= (p.Pro287=) n.1385C= c.1209C= (p.Asn403=) | |
4 | g.6300995C>G | CA356174449 | WFS1 | c.1236C>G (p.Asn412Lys) c.1177C>G c.1200C>G (p.Asn400Lys) c.951C>G (p.Asn317Lys) c.859C>G (p.Pro287Ala) n.1385C>G c.1209C>G (p.Asn403Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300995C>T | CA438368163 | WFS1 | c.1236C>T (p.Asn412=) c.1177C>T c.1200C>T (p.Asn400=) c.951C>T (p.Asn317=) c.859C>T (p.Pro287Ser) n.1385C>T c.1209C>T (p.Asn403=) | |
4 | g.6300996C>A | CA356174450 | WFS1 | c.1237C>A (p.His413Asn) c.1178C>A c.1201C>A (p.His401Asn) c.952C>A (p.His318Asn) c.860C>A (p.Pro287Gln) n.1386C>A c.1210C>A (p.His404Asn) | |
4 | g.6300996C= | CA1435772517 | WFS1 | c.1237C= (p.His413=) c.1178C= c.1201C= (p.His401=) c.952C= (p.His318=) c.860C= (p.Pro287=) n.1386C= c.1210C= (p.His404=) | |
4 | g.6300996C>G | CA356174451 | WFS1 | c.1237C>G (p.His413Asp) c.1178C>G c.1201C>G (p.His401Asp) c.952C>G (p.His318Asp) c.860C>G (p.Pro287Arg) n.1386C>G c.1210C>G (p.His404Asp) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300996C>T | CA356174452 | WFS1 | c.1237C>T (p.His413Tyr) c.1178C>T c.1201C>T (p.His401Tyr) c.952C>T (p.His318Tyr) c.860C>T (p.Pro287Leu) n.1386C>T c.1210C>T (p.His404Tyr) | ClinVar |
4 | g.6300997A= | CA1435772518 | WFS1 | c.1238A= (p.His413=) c.1179A= c.1202A= (p.His401=) c.953A= (p.His318=) c.861A= (p.Pro287=) n.1387A= c.1211A= (p.His404=) | |
4 | g.6300997A>C | CA356174453 | WFS1 | c.1238A>C (p.His413Pro) c.1179A>C c.1202A>C (p.His401Pro) c.953A>C (p.His318Pro) c.861A>C (p.Pro287=) n.1387A>C c.1211A>C (p.His404Pro) | |
4 | g.6300997A>G | CA356174454 | WFS1 | c.1238A>G (p.His413Arg) c.1179A>G c.1202A>G (p.His401Arg) c.953A>G (p.His318Arg) c.861A>G (p.Pro287=) n.1387A>G c.1211A>G (p.His404Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300997A>T | CA356174455 | WFS1 | c.1238A>T (p.His413Leu) c.1179A>T c.1202A>T (p.His401Leu) c.953A>T (p.His318Leu) c.861A>T (p.Pro287=) n.1387A>T c.1211A>T (p.His404Leu) | |
4 | g.6300998C>A | CA356174456 | WFS1 | c.1239C>A (p.His413Gln) c.1180C>A c.1203C>A (p.His401Gln) c.954C>A (p.His318Gln) c.862C>A (p.Pro288Thr) n.1388C>A c.1212C>A (p.His404Gln) | |
4 | g.6300998C>G | CA356174457 | WFS1 | c.1239C>G (p.His413Gln) c.1180C>G c.1203C>G (p.His401Gln) c.954C>G (p.His318Gln) c.862C>G (p.Pro288Ala) n.1388C>G c.1212C>G (p.His404Gln) | gnomAD v4 |
4 | g.6300998C>T | CA438368165 | WFS1 | c.1239C>T (p.His413=) c.1180C>T c.1203C>T (p.His401=) c.954C>T (p.His318=) c.862C>T (p.Pro288Ser) n.1388C>T c.1212C>T (p.His404=) | gnomAD v4 |
4 | g.6300999C>A | CA356174458 | WFS1 | c.1240C>A (p.Leu414Met) c.1181C>A c.1204C>A (p.Leu402Met) c.955C>A (p.Leu319Met) c.863C>A (p.Pro288His) n.1389C>A c.1213C>A (p.Leu405Met) | |
4 | g.6300999C= | CA1435772521 | WFS1 | c.1240C= (p.Leu414=) c.1181C= c.1204C= (p.Leu402=) c.955C= (p.Leu319=) c.863C= (p.Pro288=) n.1389C= c.1213C= (p.Leu405=) | |
4 | g.6300999C>G | CA356174459 | WFS1 | c.1240C>G (p.Leu414Val) c.1181C>G c.1204C>G (p.Leu402Val) c.955C>G (p.Leu319Val) c.863C>G (p.Pro288Arg) n.1389C>G c.1213C>G (p.Leu405Val) | gnomAD v4 |
4 | g.6300999C>T | CA2839256 | WFS1 | c.1240C>T (p.Leu414=) c.1181C>T c.1204C>T (p.Leu402=) c.955C>T (p.Leu319=) c.863C>T (p.Pro288Leu) n.1389C>T c.1213C>T (p.Leu405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300999_6301000insACA | CA2760284760 | WFS1 | c.1240_1241insACA (p.Leu414delinsHisMet) c.1181_1182insACA c.1204_1205insACA (p.Leu402delinsHisMet) c.955_956insACA (p.Leu319delinsHisMet) c.863_864insACA (p.Pro288_Gly289insHis) n.1389_1390insACA c.1213_1214insACA (p.Leu405delinsHisMet) | |
4 | g.6301000T>A | CA356174460 | WFS1 | c.1241T>A (p.Leu414Gln) c.1182T>A c.1205T>A (p.Leu402Gln) c.956T>A (p.Leu319Gln) c.864T>A (p.Pro288=) n.1390T>A c.1214T>A (p.Leu405Gln) | |
4 | g.6301000T>C | CA2839258 | WFS1 | c.1241T>C (p.Leu414Pro) c.1182T>C c.1205T>C (p.Leu402Pro) c.956T>C (p.Leu319Pro) c.864T>C (p.Pro288=) n.1390T>C c.1214T>C (p.Leu405Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301000T>G | CA2839257 | WFS1 | c.1241T>G (p.Leu414Arg) c.1182T>G c.1205T>G (p.Leu402Arg) c.956T>G (p.Leu319Arg) c.864T>G (p.Pro288=) n.1390T>G c.1214T>G (p.Leu405Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301000T= | CA1435772525 | WFS1 | c.1241T= (p.Leu414=) c.1182T= c.1205T= (p.Leu402=) c.956T= (p.Leu319=) c.864T= (p.Pro288=) n.1390T= c.1214T= (p.Leu405=) | |
4 | g.6301000dup | CA549707906 | WFS1 | c.1241dup (p.Glu415GlyfsTer?) c.1182dup c.1205dup (p.Glu403GlyfsTer?) c.956dup (p.Glu320GlyfsTer?) c.864dup (p.Gly289TrpfsTer?) n.1390dup c.1214dup (p.Glu406GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301001G>A | CA438368168 | WFS1 | c.1242G>A (p.Leu414=) c.1183G>A c.1206G>A (p.Leu402=) c.957G>A (p.Leu319=) c.865G>A (p.Gly289Arg) n.1391G>A c.1215G>A (p.Leu405=) | |
4 | g.6301001G>C | CA438368170 | WFS1 | c.1242G>C (p.Leu414=) c.1183G>C c.1206G>C (p.Leu402=) c.957G>C (p.Leu319=) c.865G>C (p.Gly289Arg) n.1391G>C c.1215G>C (p.Leu405=) | |
4 | g.6301001G>T | CA438368171 | WFS1 | c.1242G>T (p.Leu414=) c.1183G>T c.1206G>T (p.Leu402=) c.957G>T (p.Leu319=) c.865G>T (p.Gly289Ter) n.1391G>T c.1215G>T (p.Leu405=) | |
4 | g.6301002del | CA2760284764 | WFS1 | c.1243del (p.Glu415SerfsTer?) c.1184del c.1207del (p.Glu403SerfsTer?) c.958del (p.Glu320SerfsTer?) c.866del (p.Gly289GlufsTer?) n.1392del c.1216del (p.Glu406SerfsTer?) | |
4 | g.6301002G>A | CA356174461 | WFS1 | c.1243G>A (p.Glu415Lys) c.1184G>A c.1207G>A (p.Glu403Lys) c.958G>A (p.Glu320Lys) c.866G>A (p.Gly289Glu) n.1392G>A c.1216G>A (p.Glu406Lys) | |
4 | g.6301002G>C | CA356174462 | WFS1 | c.1243G>C (p.Glu415Gln) c.1184G>C c.1207G>C (p.Glu403Gln) c.958G>C (p.Glu320Gln) c.866G>C (p.Gly289Ala) n.1392G>C c.1216G>C (p.Glu406Gln) | dbSNP gnomAD v4 |
4 | g.6301002G= | CA1435772527 | WFS1 | c.1243G= (p.Glu415=) c.1184G= c.1207G= (p.Glu403=) c.958G= (p.Glu320=) c.866G= (p.Gly289=) n.1392G= c.1216G= (p.Glu406=) | |
4 | g.6301002G>T | CA356174463 | WFS1 | c.1243G>T (p.Glu415Ter) c.1184G>T c.1207G>T (p.Glu403Ter) c.958G>T (p.Glu320Ter) c.866G>T (p.Gly289Val) n.1392G>T c.1216G>T (p.Glu406Ter) | gnomAD v4 |
4 | g.6301003A>C | CA356174464 | WFS1 | c.1244A>C (p.Glu415Ala) c.1185A>C c.1208A>C (p.Glu403Ala) c.959A>C (p.Glu320Ala) c.867A>C (p.Gly289=) n.1393A>C c.1217A>C (p.Glu406Ala) | |
4 | g.6301003A>G | CA356174465 | WFS1 | c.1244A>G (p.Glu415Gly) c.1185A>G c.1208A>G (p.Glu403Gly) c.959A>G (p.Glu320Gly) c.867A>G (p.Gly289=) n.1393A>G c.1217A>G (p.Glu406Gly) | |
4 | g.6301003A>T | CA356174466 | WFS1 | c.1244A>T (p.Glu415Val) c.1185A>T c.1208A>T (p.Glu403Val) c.959A>T (p.Glu320Val) c.867A>T (p.Gly289=) n.1393A>T c.1217A>T (p.Glu406Val) | |
4 | g.6301004G>A | CA2839260 | WFS1 | c.1245G>A (p.Glu415=) c.1186G>A c.1209G>A (p.Glu403=) c.960G>A (p.Glu320=) c.868G>A (p.Ala290Thr) n.1394G>A c.1218G>A (p.Glu406=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301004G>C | CA356174467 | WFS1 | c.1245G>C (p.Glu415Asp) c.1186G>C c.1209G>C (p.Glu403Asp) c.960G>C (p.Glu320Asp) c.868G>C (p.Ala290Pro) n.1394G>C c.1218G>C (p.Glu406Asp) | |
4 | g.6301004G= | CA1435772529 | WFS1 | c.1245G= (p.Glu415=) c.1186G= c.1209G= (p.Glu403=) c.960G= (p.Glu320=) c.868G= (p.Ala290=) n.1394G= c.1218G= (p.Glu406=) | |
4 | g.6301004G>T | CA2839259 | WFS1 | c.1245G>T (p.Glu415Asp) c.1186G>T c.1209G>T (p.Glu403Asp) c.960G>T (p.Glu320Asp) c.868G>T (p.Ala290Ser) n.1394G>T c.1218G>T (p.Glu406Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301005C>A | CA356174468 | WFS1 | c.1246C>A (p.Pro416Thr) c.1187C>A c.1210C>A (p.Pro404Thr) c.961C>A (p.Pro321Thr) c.869C>A (p.Ala290Asp) n.1395C>A c.1219C>A (p.Pro407Thr) | |
4 | g.6301005C= | CA1435772530 | WFS1 | c.1246C= (p.Pro416=) c.1187C= c.1210C= (p.Pro404=) c.961C= (p.Pro321=) c.869C= (p.Ala290=) n.1395C= c.1219C= (p.Pro407=) | |
4 | g.6301005C>G | CA2839261 | WFS1 | c.1246C>G (p.Pro416Ala) c.1187C>G c.1210C>G (p.Pro404Ala) c.961C>G (p.Pro321Ala) c.869C>G (p.Ala290Gly) n.1395C>G c.1219C>G (p.Pro407Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301005C>T | CA356174469 | WFS1 | c.1246C>T (p.Pro416Ser) c.1187C>T c.1210C>T (p.Pro404Ser) c.961C>T (p.Pro321Ser) c.869C>T (p.Ala290Val) n.1395C>T c.1219C>T (p.Pro407Ser) | |
4 | g.6301006C>A | CA356174470 | WFS1 | c.1247C>A (p.Pro416His) c.1188C>A c.1211C>A (p.Pro404His) c.962C>A (p.Pro321His) c.870C>A (p.Ala290=) n.1396C>A c.1220C>A (p.Pro407His) | gnomAD v4 |
4 | g.6301006C= | CA1435772533 | WFS1 | c.1247C= (p.Pro416=) c.1188C= c.1211C= (p.Pro404=) c.962C= (p.Pro321=) c.870C= (p.Ala290=) n.1396C= c.1220C= (p.Pro407=) | |
4 | g.6301006C>G | CA356174471 | WFS1 | c.1247C>G (p.Pro416Arg) c.1188C>G c.1211C>G (p.Pro404Arg) c.962C>G (p.Pro321Arg) c.870C>G (p.Ala290=) n.1396C>G c.1220C>G (p.Pro407Arg) | ClinVar dbSNP gnomAD v4 |
4 | g.6301006C>T | CA91796235 | WFS1 | c.1247C>T (p.Pro416Leu) c.1188C>T c.1211C>T (p.Pro404Leu) c.962C>T (p.Pro321Leu) c.870C>T (p.Ala290=) n.1396C>T c.1220C>T (p.Pro407Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301006_6301007insACAA | CA2760284770 | WFS1 | c.1247_1248insACAA (p.Tyr417GlnfsTer?) c.1188_1189insACAA c.1211_1212insACAA (p.Tyr405GlnfsTer?) c.962_963insACAA (p.Tyr322GlnfsTer?) c.870_871insACAA (p.Leu291ThrfsTer?) n.1396_1397insACAA c.1220_1221insACAA (p.Tyr408GlnfsTer?) | |
4 | g.6301007C>A | CA438368174 | WFS1 | c.1248C>A (p.Pro416=) c.1189C>A c.1212C>A (p.Pro404=) c.963C>A (p.Pro321=) c.871C>A (p.Leu291Ile) n.1397C>A c.1221C>A (p.Pro407=) | |
4 | g.6301007C= | CA1435772536 | WFS1 | c.1248C= (p.Pro416=) c.1189C= c.1212C= (p.Pro404=) c.963C= (p.Pro321=) c.871C= (p.Leu291=) n.1397C= c.1221C= (p.Pro407=) | |
4 | g.6301007C>G | CA2839263 | WFS1 | c.1248C>G (p.Pro416=) c.1189C>G c.1212C>G (p.Pro404=) c.963C>G (p.Pro321=) c.871C>G (p.Leu291Val) n.1397C>G c.1221C>G (p.Pro407=) | dbSNP ExAC gnomAD v4 |
4 | g.6301007C>T | CA2839262 | WFS1 | c.1248C>T (p.Pro416=) c.1189C>T c.1212C>T (p.Pro404=) c.963C>T (p.Pro321=) c.871C>T (p.Leu291=) n.1397C>T c.1221C>T (p.Pro407=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301008T>A | CA356174472 | WFS1 | c.1249T>A (p.Tyr417Asn) c.1190T>A c.1213T>A (p.Tyr405Asn) c.964T>A (p.Tyr322Asn) c.872T>A (p.Leu291Gln) n.1398T>A c.1222T>A (p.Tyr408Asn) | |
4 | g.6301008T>C | CA356174473 | WFS1 | c.1249T>C (p.Tyr417His) c.1190T>C c.1213T>C (p.Tyr405His) c.964T>C (p.Tyr322His) c.872T>C (p.Leu291Pro) n.1398T>C c.1222T>C (p.Tyr408His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301008T>G | CA356174474 | WFS1 | c.1249T>G (p.Tyr417Asp) c.1190T>G c.1213T>G (p.Tyr405Asp) c.964T>G (p.Tyr322Asp) c.872T>G (p.Leu291Arg) n.1398T>G c.1222T>G (p.Tyr408Asp) | |
4 | g.6301008T= | CA1435772538 | WFS1 | c.1249T= (p.Tyr417=) c.1190T= c.1213T= (p.Tyr405=) c.964T= (p.Tyr322=) c.872T= (p.Leu291=) n.1398T= c.1222T= (p.Tyr408=) | |
4 | g.6301009A= | CA1435772540 | WFS1 | c.1250A= (p.Tyr417=) c.1191A= c.1214A= (p.Tyr405=) c.965A= (p.Tyr322=) c.873A= (p.Leu291=) n.1399A= c.1223A= (p.Tyr408=) | |
4 | g.6301009A>C | CA356174475 | WFS1 | c.1250A>C (p.Tyr417Ser) c.1191A>C c.1214A>C (p.Tyr405Ser) c.965A>C (p.Tyr322Ser) c.873A>C (p.Leu291=) n.1399A>C c.1223A>C (p.Tyr408Ser) | gnomAD v4 |
4 | g.6301009A>G | CA2839264 | WFS1 | c.1250A>G (p.Tyr417Cys) c.1191A>G c.1214A>G (p.Tyr405Cys) c.965A>G (p.Tyr322Cys) c.873A>G (p.Leu291=) n.1399A>G c.1223A>G (p.Tyr408Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301009A>T | CA356174476 | WFS1 | c.1250A>T (p.Tyr417Phe) c.1191A>T c.1214A>T (p.Tyr405Phe) c.965A>T (p.Tyr322Phe) c.873A>T (p.Leu291=) n.1399A>T c.1223A>T (p.Tyr408Phe) | dbSNP |
4 | g.6301010T>A | CA356174477 | WFS1 | c.1251T>A (p.Tyr417Ter) c.1192T>A c.1215T>A (p.Tyr405Ter) c.966T>A (p.Tyr322Ter) c.874T>A (p.Cys292Ser) n.1400T>A c.1224T>A (p.Tyr408Ter) | |
4 | g.6301010T>C | CA438368179 | WFS1 | c.1251T>C (p.Tyr417=) c.1192T>C c.1215T>C (p.Tyr405=) c.966T>C (p.Tyr322=) c.874T>C (p.Cys292Arg) n.1400T>C c.1224T>C (p.Tyr408=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301010T>G | CA356174478 | WFS1 | c.1251T>G (p.Tyr417Ter) c.1192T>G c.1215T>G (p.Tyr405Ter) c.966T>G (p.Tyr322Ter) c.874T>G (p.Cys292Gly) n.1400T>G c.1224T>G (p.Tyr408Ter) | |
4 | g.6301010T= | CA1435772542 | WFS1 | c.1251T= (p.Tyr417=) c.1192T= c.1215T= (p.Tyr405=) c.966T= (p.Tyr322=) c.874T= (p.Cys292=) n.1400T= c.1224T= (p.Tyr408=) | |
4 | g.6301010_6301011insAGA | CA2760284784 | WFS1 | c.1251_1252insAGA (p.Tyr417_Ala418insArg) c.1192_1193insAGA c.1215_1216insAGA (p.Tyr405_Ala406insArg) c.966_967insAGA (p.Tyr322_Ala323insArg) c.874_875insAGA (p.Cys292Ter) n.1400_1401insAGA c.1224_1225insAGA (p.Tyr408_Ala409insArg) | |
4 | g.6301011G>A | CA91796236 | WFS1 | c.1252G>A (p.Ala418Thr) c.1193G>A c.1216G>A (p.Ala406Thr) c.967G>A (p.Ala323Thr) c.875G>A (p.Cys292Tyr) n.1401G>A c.1225G>A (p.Ala409Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301011G>C | CA356174479 | WFS1 | c.1252G>C (p.Ala418Pro) c.1193G>C c.1216G>C (p.Ala406Pro) c.967G>C (p.Ala323Pro) c.875G>C (p.Cys292Ser) n.1401G>C c.1225G>C (p.Ala409Pro) | gnomAD v4 |
4 | g.6301011G= | CA1435772543 | WFS1 | c.1252G= (p.Ala418=) c.1193G= c.1216G= (p.Ala406=) c.967G= (p.Ala323=) c.875G= (p.Cys292=) n.1401G= c.1225G= (p.Ala409=) | |
4 | g.6301011G>T | CA356174480 | WFS1 | c.1252G>T (p.Ala418Ser) c.1193G>T c.1216G>T (p.Ala406Ser) c.967G>T (p.Ala323Ser) c.875G>T (p.Cys292Phe) n.1401G>T c.1225G>T (p.Ala409Ser) | |
4 | g.6301012C>A | CA356174481 | WFS1 | c.1253C>A (p.Ala418Asp) c.1194C>A c.1217C>A (p.Ala406Asp) c.968C>A (p.Ala323Asp) c.876C>A (p.Cys292Ter) n.1402C>A c.1226C>A (p.Ala409Asp) | ClinVar dbSNP gnomAD v4 |
4 | g.6301012C= | CA1435772546 | WFS1 | c.1253C= (p.Ala418=) c.1194C= c.1217C= (p.Ala406=) c.968C= (p.Ala323=) c.876C= (p.Cys292=) n.1402C= c.1226C= (p.Ala409=) | |
4 | g.6301012C>G | CA356174482 | WFS1 | c.1253C>G (p.Ala418Gly) c.1194C>G c.1217C>G (p.Ala406Gly) c.968C>G (p.Ala323Gly) c.876C>G (p.Cys292Trp) n.1402C>G c.1226C>G (p.Ala409Gly) | gnomAD v4 |
4 | g.6301012C>T | CA356174483 | WFS1 | c.1253C>T (p.Ala418Val) c.1194C>T c.1217C>T (p.Ala406Val) c.968C>T (p.Ala323Val) c.876C>T (p.Cys292=) n.1402C>T c.1226C>T (p.Ala409Val) | gnomAD v4 |