| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |