Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.6301013C>A | CA438368184 | WFS1 | c.1254C>A (p.Ala418=) c.1195C>A c.1218C>A (p.Ala406=) c.969C>A (p.Ala323=) c.877C>A (p.Pro293Thr) n.1403C>A c.1227C>A (p.Ala409=) | dbSNP |
4 | g.6301013C= | CA1435772547 | WFS1 | c.1254C= (p.Ala418=) c.1195C= c.1218C= (p.Ala406=) c.969C= (p.Ala323=) c.877C= (p.Pro293=) n.1403C= c.1227C= (p.Ala409=) | |
4 | g.6301013C>G | CA438368185 | WFS1 | c.1254C>G (p.Ala418=) c.1195C>G c.1218C>G (p.Ala406=) c.969C>G (p.Ala323=) c.877C>G (p.Pro293Ala) n.1403C>G c.1227C>G (p.Ala409=) | gnomAD v4 |
4 | g.6301013C>T | CA438368186 | WFS1 | c.1254C>T (p.Ala418=) c.1195C>T c.1218C>T (p.Ala406=) c.969C>T (p.Ala323=) c.877C>T (p.Pro293Ser) n.1403C>T c.1227C>T (p.Ala409=) | ClinVar gnomAD v4 |
4 | g.6301014C>A | CA356174484 | WFS1 | c.1255C>A (p.His419Asn) c.1196C>A c.1219C>A (p.His407Asn) c.970C>A (p.His324Asn) c.878C>A (p.Pro293Gln) n.1404C>A c.1228C>A (p.His410Asn) | |
4 | g.6301014C= | CA1435772549 | WFS1 | c.1255C= (p.His419=) c.1196C= c.1219C= (p.His407=) c.970C= (p.His324=) c.878C= (p.Pro293=) n.1404C= c.1228C= (p.His410=) | |
4 | g.6301014C>G | CA2839265 | WFS1 | c.1255C>G (p.His419Asp) c.1196C>G c.1219C>G (p.His407Asp) c.970C>G (p.His324Asp) c.878C>G (p.Pro293Arg) n.1404C>G c.1228C>G (p.His410Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301014C>T | CA179639 | WFS1 | c.1255C>T (p.His419Tyr) c.1196C>T c.1219C>T (p.His407Tyr) c.970C>T (p.His324Tyr) c.878C>T (p.Pro293Leu) n.1404C>T c.1228C>T (p.His410Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301015A= | CA1435772551 | WFS1 | c.1256A= (p.His419=) c.1197A= c.1220A= (p.His407=) c.971A= (p.His324=) c.879A= (p.Pro293=) n.1405A= c.1229A= (p.His410=) | |
4 | g.6301015A>C | CA356174485 | WFS1 | c.1256A>C (p.His419Pro) c.1197A>C c.1220A>C (p.His407Pro) c.971A>C (p.His324Pro) c.879A>C (p.Pro293=) n.1405A>C c.1229A>C (p.His410Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301015A>G | CA2839266 | WFS1 | c.1256A>G (p.His419Arg) c.1197A>G c.1220A>G (p.His407Arg) c.971A>G (p.His324Arg) c.879A>G (p.Pro293=) n.1405A>G c.1229A>G (p.His410Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301015A>T | CA356174486 | WFS1 | c.1256A>T (p.His419Leu) c.1197A>T c.1220A>T (p.His407Leu) c.971A>T (p.His324Leu) c.879A>T (p.Pro293=) n.1405A>T c.1229A>T (p.His410Leu) | |
4 | g.6301016T>A | CA356174487 | WFS1 | c.1257T>A (p.His419Gln) c.1198T>A c.1221T>A (p.His407Gln) c.972T>A (p.His324Gln) c.880T>A (p.Phe294Ile) n.1406T>A c.1230T>A (p.His410Gln) | |
4 | g.6301016T>C | CA438368189 | WFS1 | c.1257T>C (p.His419=) c.1198T>C c.1221T>C (p.His407=) c.972T>C (p.His324=) c.880T>C (p.Phe294Leu) n.1406T>C c.1230T>C (p.His410=) | ClinVar dbSNP |
4 | g.6301016T>G | CA2839267 | WFS1 | c.1257T>G (p.His419Gln) c.1198T>G c.1221T>G (p.His407Gln) c.972T>G (p.His324Gln) c.880T>G (p.Phe294Val) n.1406T>G c.1230T>G (p.His410Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301016T= | CA1435772553 | WFS1 | c.1257T= (p.His419=) c.1198T= c.1221T= (p.His407=) c.972T= (p.His324=) c.880T= (p.Phe294=) n.1406T= c.1230T= (p.His410=) | |
4 | g.6301017T>A | CA356174488 | WFS1 | c.1258T>A (p.Phe420Ile) c.1199T>A c.1222T>A (p.Phe408Ile) c.973T>A (p.Phe325Ile) c.881T>A (p.Phe294Tyr) n.1407T>A c.1231T>A (p.Phe411Ile) | |
4 | g.6301017T>C | CA356174490 | WFS1 | c.1258T>C (p.Phe420Leu) c.1199T>C c.1222T>C (p.Phe408Leu) c.973T>C (p.Phe325Leu) c.881T>C (p.Phe294Ser) n.1407T>C c.1231T>C (p.Phe411Leu) | |
4 | g.6301017T>G | CA356174489 | WFS1 | c.1258T>G (p.Phe420Val) c.1199T>G c.1222T>G (p.Phe408Val) c.973T>G (p.Phe325Val) c.881T>G (p.Phe294Cys) n.1407T>G c.1231T>G (p.Phe411Val) | |
4 | g.6301018T>A | CA356174491 | WFS1 | c.1259T>A (p.Phe420Tyr) c.1200T>A c.1223T>A (p.Phe408Tyr) c.974T>A (p.Phe325Tyr) c.882T>A (p.Phe294Leu) n.1408T>A c.1232T>A (p.Phe411Tyr) | |
4 | g.6301018T>C | CA356174492 | WFS1 | c.1259T>C (p.Phe420Ser) c.1200T>C c.1223T>C (p.Phe408Ser) c.974T>C (p.Phe325Ser) c.882T>C (p.Phe294=) n.1408T>C c.1232T>C (p.Phe411Ser) | |
4 | g.6301018T>G | CA356174493 | WFS1 | c.1259T>G (p.Phe420Cys) c.1200T>G c.1223T>G (p.Phe408Cys) c.974T>G (p.Phe325Cys) c.882T>G (p.Phe294Leu) n.1408T>G c.1232T>G (p.Phe411Cys) | dbSNP |
4 | g.6301018T= | CA1435772555 | WFS1 | c.1259T= (p.Phe420=) c.1200T= c.1223T= (p.Phe408=) c.974T= (p.Phe325=) c.882T= (p.Phe294=) n.1408T= c.1232T= (p.Phe411=) | |
4 | g.6301019C>A | CA356174494 | WFS1 | c.1260C>A (p.Phe420Leu) c.1201C>A c.1224C>A (p.Phe408Leu) c.975C>A (p.Phe325Leu) c.883C>A (p.Pro295Thr) n.1409C>A c.1233C>A (p.Phe411Leu) | |
4 | g.6301019C= | CA1435772560 | WFS1 | c.1260C= (p.Phe420=) c.1201C= c.1224C= (p.Phe408=) c.975C= (p.Phe325=) c.883C= (p.Pro295=) n.1409C= c.1233C= (p.Phe411=) | |
4 | g.6301019C>G | CA356174495 | WFS1 | c.1260C>G (p.Phe420Leu) c.1201C>G c.1224C>G (p.Phe408Leu) c.975C>G (p.Phe325Leu) c.883C>G (p.Pro295Ala) n.1409C>G c.1233C>G (p.Phe411Leu) | |
4 | g.6301019C>T | CA2839268 | WFS1 | c.1260C>T (p.Phe420=) c.1201C>T c.1224C>T (p.Phe408=) c.975C>T (p.Phe325=) c.883C>T (p.Pro295Ser) n.1409C>T c.1233C>T (p.Phe411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301020C>A | CA356174496 | WFS1 | c.1261C>A (p.Leu421Met) c.1202C>A c.1225C>A (p.Leu409Met) c.976C>A (p.Leu326Met) c.884C>A (p.Pro295His) n.1410C>A c.1234C>A (p.Leu412Met) | |
4 | g.6301020C= | CA1435772561 | WFS1 | c.1261C= (p.Leu421=) c.1202C= c.1225C= (p.Leu409=) c.976C= (p.Leu326=) c.884C= (p.Pro295=) n.1410C= c.1234C= (p.Leu412=) | |
4 | g.6301020C>G | CA356174497 | WFS1 | c.1261C>G (p.Leu421Val) c.1202C>G c.1225C>G (p.Leu409Val) c.976C>G (p.Leu326Val) c.884C>G (p.Pro295Arg) n.1410C>G c.1234C>G (p.Leu412Val) | |
4 | g.6301020C>T | CA2839269 | WFS1 | c.1261C>T (p.Leu421=) c.1202C>T c.1225C>T (p.Leu409=) c.976C>T (p.Leu326=) c.884C>T (p.Pro295Leu) n.1410C>T c.1234C>T (p.Leu412=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301021T>A | CA356174498 | WFS1 | c.1262T>A (p.Leu421Gln) c.1203T>A c.1226T>A (p.Leu409Gln) c.977T>A (p.Leu326Gln) c.885T>A (p.Pro295=) n.1411T>A c.1235T>A (p.Leu412Gln) | |
4 | g.6301021T>C | CA356174499 | WFS1 | c.1262T>C (p.Leu421Pro) c.1203T>C c.1226T>C (p.Leu409Pro) c.977T>C (p.Leu326Pro) c.885T>C (p.Pro295=) n.1411T>C c.1235T>C (p.Leu412Pro) | |
4 | g.6301021T>G | CA356174500 | WFS1 | c.1262T>G (p.Leu421Arg) c.1203T>G c.1226T>G (p.Leu409Arg) c.977T>G (p.Leu326Arg) c.885T>G (p.Pro295=) n.1411T>G c.1235T>G (p.Leu412Arg) | |
4 | g.6301022G>A | CA2839271 | WFS1 | c.1263G>A (p.Leu421=) c.1204G>A c.1227G>A (p.Leu409=) c.978G>A (p.Leu326=) c.886G>A (p.Ala296Thr) n.1412G>A c.1236G>A (p.Leu412=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301022G>C | CA91796237 | WFS1 | c.1263G>C (p.Leu421=) c.1204G>C c.1227G>C (p.Leu409=) c.978G>C (p.Leu326=) c.886G>C (p.Ala296Pro) n.1412G>C c.1236G>C (p.Leu412=) | dbSNP gnomAD v4 |
4 | g.6301022G= | CA1435772565 | WFS1 | c.1263G= (p.Leu421=) c.1204G= c.1227G= (p.Leu409=) c.978G= (p.Leu326=) c.886G= (p.Ala296=) n.1412G= c.1236G= (p.Leu412=) | |
4 | g.6301022G>T | CA438368192 | WFS1 | c.1263G>T (p.Leu421=) c.1204G>T c.1227G>T (p.Leu409=) c.978G>T (p.Leu326=) c.886G>T (p.Ala296Ser) n.1412G>T c.1236G>T (p.Leu412=) | |
4 | g.6301022_6301026delinsGCTCT | CA1435772566 | WFS1 | c.1263_1267delinsGCTCT (p.Leu421=) c.1204_1208delinsGCTCT c.1227_1231delinsGCTCT (p.Leu409=) c.978_982delinsGCTCT (p.Leu326=) c.886_890delinsGCTCT (p.Ala296=) n.1412_1416delinsGCTCT c.1236_1240delinsGCTCT (p.Leu412=) | |
4 | g.6301023del | CA2586973610 | WFS1 | c.1264del (p.Leu422SerfsTer?) c.1205del c.1228del (p.Leu410SerfsTer?) c.979del (p.Leu327SerfsTer?) c.887del (p.Ala296ValfsTer?) n.1413del c.1237del (p.Leu413SerfsTer?) | gnomAD v4 |
4 | g.6301023C>A | CA356174501 | WFS1 | c.1264C>A (p.Leu422Ile) c.1205C>A c.1228C>A (p.Leu410Ile) c.979C>A (p.Leu327Ile) c.887C>A (p.Ala296Asp) n.1413C>A c.1237C>A (p.Leu413Ile) | |
4 | g.6301023C= | CA1435772571 | WFS1 | c.1264C= (p.Leu422=) c.1205C= c.1228C= (p.Leu410=) c.979C= (p.Leu327=) c.887C= (p.Ala296=) n.1413C= c.1237C= (p.Leu413=) | |
4 | g.6301023C>G | CA356174502 | WFS1 | c.1264C>G (p.Leu422Val) c.1205C>G c.1228C>G (p.Leu410Val) c.979C>G (p.Leu327Val) c.887C>G (p.Ala296Gly) n.1413C>G c.1237C>G (p.Leu413Val) | gnomAD v4 |
4 | g.6301023C>T | CA91796238 | WFS1 | c.1264C>T (p.Leu422Phe) c.1205C>T c.1228C>T (p.Leu410Phe) c.979C>T (p.Leu327Phe) c.887C>T (p.Ala296Val) n.1413C>T c.1237C>T (p.Leu413Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301027_6301028del | CA549707907 | WFS1 | c.1268_1269del (p.Ser423CysfsTer?) c.1209_1210del c.1232_1233del (p.Ser411CysfsTer?) c.983_984del (p.Ser328CysfsTer?) c.891_892del (p.Cys298SerfsTer?) n.1417_1418del c.1241_1242del (p.Ser414CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301025_6301028del | CA2839270 | WFS1 | c.1266_1269del (p.Val424SerfsTer?) c.1207_1210del c.1230_1233del (p.Val412SerfsTer?) c.981_984del (p.Val329SerfsTer?) c.889_892del (p.Leu297ValfsTer?) n.1415_1418del c.1239_1242del (p.Val415SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301024T>A | CA356174503 | WFS1 | c.1265T>A (p.Leu422His) c.1206T>A c.1229T>A (p.Leu410His) c.980T>A (p.Leu327His) c.888T>A (p.Ala296=) n.1414T>A c.1238T>A (p.Leu413His) | |
4 | g.6301024T>C | CA356174504 | WFS1 | c.1265T>C (p.Leu422Pro) c.1206T>C c.1229T>C (p.Leu410Pro) c.980T>C (p.Leu327Pro) c.888T>C (p.Ala296=) n.1414T>C c.1238T>C (p.Leu413Pro) | gnomAD v4 |
4 | g.6301024T>G | CA356174505 | WFS1 | c.1265T>G (p.Leu422Arg) c.1206T>G c.1229T>G (p.Leu410Arg) c.980T>G (p.Leu327Arg) c.888T>G (p.Ala296=) n.1414T>G c.1238T>G (p.Leu413Arg) | |
4 | g.6301025C>A | CA438368196 | WFS1 | c.1266C>A (p.Leu422=) c.1207C>A c.1230C>A (p.Leu410=) c.981C>A (p.Leu327=) c.889C>A (p.Leu297Ile) n.1415C>A c.1239C>A (p.Leu413=) | |
4 | g.6301025C= | CA1435772574 | WFS1 | c.1266C= (p.Leu422=) c.1207C= c.1230C= (p.Leu410=) c.981C= (p.Leu327=) c.889C= (p.Leu297=) n.1415C= c.1239C= (p.Leu413=) | |
4 | g.6301025C>G | CA2839272 | WFS1 | c.1266C>G (p.Leu422=) c.1207C>G c.1230C>G (p.Leu410=) c.981C>G (p.Leu327=) c.889C>G (p.Leu297Val) n.1415C>G c.1239C>G (p.Leu413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301025C>T | CA2839273 | WFS1 | c.1266C>T (p.Leu422=) c.1207C>T c.1230C>T (p.Leu410=) c.981C>T (p.Leu327=) c.889C>T (p.Leu297Phe) n.1415C>T c.1239C>T (p.Leu413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301025_6301029delinsCTCTG | CA1435772573 | WFS1 | c.1266_1270delinsCTCTG (p.Leu422=) c.1207_1211delinsCTCTG c.1230_1234delinsCTCTG (p.Leu410=) c.981_985delinsCTCTG (p.Leu327=) c.889_893delinsCTCTG (p.Leu297=) n.1415_1419delinsCTCTG c.1239_1243delinsCTCTG (p.Leu413=) | |
4 | g.6301026T>A | CA356174506 | WFS1 | c.1267T>A (p.Ser423Thr) c.1208T>A c.1231T>A (p.Ser411Thr) c.982T>A (p.Ser328Thr) c.890T>A (p.Leu297His) n.1416T>A c.1240T>A (p.Ser414Thr) | |
4 | g.6301026T>C | CA356174507 | WFS1 | c.1267T>C (p.Ser423Pro) c.1208T>C c.1231T>C (p.Ser411Pro) c.982T>C (p.Ser328Pro) c.890T>C (p.Leu297Pro) n.1416T>C c.1240T>C (p.Ser414Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301026T>G | CA356174508 | WFS1 | c.1267T>G (p.Ser423Ala) c.1208T>G c.1231T>G (p.Ser411Ala) c.982T>G (p.Ser328Ala) c.890T>G (p.Leu297Arg) n.1416T>G c.1240T>G (p.Ser414Ala) | |
4 | g.6301026T= | CA1435772577 | WFS1 | c.1267T= (p.Ser423=) c.1208T= c.1231T= (p.Ser411=) c.982T= (p.Ser328=) c.890T= (p.Leu297=) n.1416T= c.1240T= (p.Ser414=) | |
4 | g.6301029_6301032del | CA2839274 | WFS1 | c.1270_1273del (p.Val424SerfsTer29) c.1211_1214del c.1234_1237del (p.Val412SerfsTer29) c.985_988del (p.Val329SerfsTer29) c.893_896del (p.Cys298PhefsTer?) n.1419_1422del c.1243_1246del (p.Val415SerfsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301027C>A | CA356174509 | WFS1 | c.1268C>A (p.Ser423Tyr) c.1209C>A c.1232C>A (p.Ser411Tyr) c.983C>A (p.Ser328Tyr) c.891C>A (p.Leu297=) n.1417C>A c.1241C>A (p.Ser414Tyr) | gnomAD v4 |
4 | g.6301027C= | CA1435772579 | WFS1 | c.1268C= (p.Ser423=) c.1209C= c.1232C= (p.Ser411=) c.983C= (p.Ser328=) c.891C= (p.Leu297=) n.1417C= c.1241C= (p.Ser414=) | |
4 | g.6301027C>G | CA356174510 | WFS1 | c.1268C>G (p.Ser423Cys) c.1209C>G c.1232C>G (p.Ser411Cys) c.983C>G (p.Ser328Cys) c.891C>G (p.Leu297=) n.1417C>G c.1241C>G (p.Ser414Cys) | ClinVar gnomAD v4 |
4 | g.6301027C>T | CA91796239 | WFS1 | c.1268C>T (p.Ser423Phe) c.1209C>T c.1232C>T (p.Ser411Phe) c.983C>T (p.Ser328Phe) c.891C>T (p.Leu297=) n.1417C>T c.1241C>T (p.Ser414Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
4 | g.6301028T>A | CA438368198 | WFS1 | c.1269T>A (p.Ser423=) c.1210T>A c.1233T>A (p.Ser411=) c.984T>A (p.Ser328=) c.892T>A (p.Cys298Ser) n.1418T>A c.1242T>A (p.Ser414=) | |
4 | g.6301028T>C | CA438368199 | WFS1 | c.1269T>C (p.Ser423=) c.1210T>C c.1233T>C (p.Ser411=) c.984T>C (p.Ser328=) c.892T>C (p.Cys298Arg) n.1418T>C c.1242T>C (p.Ser414=) | |
4 | g.6301028T>G | CA2839275 | WFS1 | c.1269T>G (p.Ser423=) c.1210T>G c.1233T>G (p.Ser411=) c.984T>G (p.Ser328=) c.892T>G (p.Cys298Gly) n.1418T>G c.1242T>G (p.Ser414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301028T= | CA1435772582 | WFS1 | c.1269T= (p.Ser423=) c.1210T= c.1233T= (p.Ser411=) c.984T= (p.Ser328=) c.892T= (p.Cys298=) n.1418T= c.1242T= (p.Ser414=) | |
4 | g.6301028_6301037delinsTGTCTTCTTC | CA1435772583 | WFS1 | c.1269_1278delinsTGTCTTCTTC (p.Ser423=) c.1210_1219delinsTGTCTTCTTC c.1233_1242delinsTGTCTTCTTC (p.Ser411=) c.984_993delinsTGTCTTCTTC (p.Ser328=) c.892_901delinsTGTCTTCTTC (p.Cys298=) n.1418_1427delinsTGTCTTCTTC c.1242_1251delinsTGTCTTCTTC (p.Ser414=) | |
4 | g.6301029G>A | CA2839276 | WFS1 | c.1270G>A (p.Val424Ile) c.1211G>A c.1234G>A (p.Val412Ile) c.985G>A (p.Val329Ile) c.893G>A (p.Cys298Tyr) n.1419G>A c.1243G>A (p.Val415Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301029G>C | CA232842 | WFS1 | c.1270G>C (p.Val424Leu) c.1211G>C c.1234G>C (p.Val412Leu) c.985G>C (p.Val329Leu) c.893G>C (p.Cys298Ser) n.1419G>C c.1243G>C (p.Val415Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301029G= | CA1435772587 | WFS1 | c.1270G= (p.Val424=) c.1211G= c.1234G= (p.Val412=) c.985G= (p.Val329=) c.893G= (p.Cys298=) n.1419G= c.1243G= (p.Val415=) | |
4 | g.6301029G>T | CA356174511 | WFS1 | c.1270G>T (p.Val424Phe) c.1211G>T c.1234G>T (p.Val412Phe) c.985G>T (p.Val329Phe) c.893G>T (p.Cys298Phe) n.1419G>T c.1243G>T (p.Val415Phe) | |
4 | g.6301029_6301032delinsGTCT | CA1435772590 | WFS1 | c.1270_1273delinsGTCT (p.Val424=) c.1211_1214delinsGTCT c.1234_1237delinsGTCT (p.Val412=) c.985_988delinsGTCT (p.Val329=) c.893_896delinsGTCT (p.Cys298=) n.1419_1422delinsGTCT c.1243_1246delinsGTCT (p.Val415=) | |
4 | g.6301032_6301040del | CA1435772586 | WFS1 | c.1273_1281del (p.Phe425_Val427del) c.1214_1222del c.1237_1245del (p.Phe413_Val415del) c.988_996del (p.Phe330_Val332del) c.896_904del (p.Leu299_Arg301del) n.1422_1430del c.1246_1254del (p.Phe416_Val418del) | dbSNP |
4 | g.6301030T>A | CA2839277 | WFS1 | c.1271T>A (p.Val424Asp) c.1212T>A c.1235T>A (p.Val412Asp) c.986T>A (p.Val329Asp) c.894T>A (p.Cys298Ter) n.1420T>A c.1244T>A (p.Val415Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301030T>C | CA322524 | WFS1 | c.1271T>C (p.Val424Ala) c.1212T>C c.1235T>C (p.Val412Ala) c.986T>C (p.Val329Ala) c.894T>C (p.Cys298=) n.1420T>C c.1244T>C (p.Val415Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301030T>G | CA356174512 | WFS1 | c.1271T>G (p.Val424Gly) c.1212T>G c.1235T>G (p.Val412Gly) c.986T>G (p.Val329Gly) c.894T>G (p.Cys298Trp) n.1420T>G c.1244T>G (p.Val415Gly) | gnomAD v4 |
4 | g.6301030T= | CA1435772595 | WFS1 | c.1271T= (p.Val424=) c.1212T= c.1235T= (p.Val412=) c.986T= (p.Val329=) c.894T= (p.Cys298=) n.1420T= c.1244T= (p.Val415=) | |
4 | g.6301035_6301037del | CA277124 | WFS1 | c.1276_1278del (p.Phe426del) c.1217_1219del c.1240_1242del (p.Phe414del) c.991_993del (p.Phe331del) c.899_901del (p.Leu300del) n.1425_1427del c.1249_1251del (p.Phe417del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301031C>A | CA438368202 | WFS1 | c.1272C>A (p.Val424=) c.1213C>A c.1236C>A (p.Val412=) c.987C>A (p.Val329=) c.895C>A (p.Leu299Ile) n.1421C>A c.1245C>A (p.Val415=) | |
4 | g.6301031C= | CA1435772598 | WFS1 | c.1272C= (p.Val424=) c.1213C= c.1236C= (p.Val412=) c.987C= (p.Val329=) c.895C= (p.Leu299=) n.1421C= c.1245C= (p.Val415=) | |
4 | g.6301031C>G | CA438368203 | WFS1 | c.1272C>G (p.Val424=) c.1213C>G c.1236C>G (p.Val412=) c.987C>G (p.Val329=) c.895C>G (p.Leu299Val) n.1421C>G c.1245C>G (p.Val415=) | |
4 | g.6301031C>T | CA2839278 | WFS1 | c.1272C>T (p.Val424=) c.1213C>T c.1236C>T (p.Val412=) c.987C>T (p.Val329=) c.895C>T (p.Leu299Phe) n.1421C>T c.1245C>T (p.Val415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301032T>A | CA356174513 | WFS1 | c.1273T>A (p.Phe425Ile) c.1214T>A c.1237T>A (p.Phe413Ile) c.988T>A (p.Phe330Ile) c.896T>A (p.Leu299His) n.1422T>A c.1246T>A (p.Phe416Ile) | |
4 | g.6301032T>C | CA356174514 | WFS1 | c.1273T>C (p.Phe425Leu) c.1214T>C c.1237T>C (p.Phe413Leu) c.988T>C (p.Phe330Leu) c.896T>C (p.Leu299Pro) n.1422T>C c.1246T>C (p.Phe416Leu) | gnomAD v4 |
4 | g.6301032T>G | CA179641 | WFS1 | c.1273T>G (p.Phe425Val) c.1214T>G c.1237T>G (p.Phe413Val) c.988T>G (p.Phe330Val) c.896T>G (p.Leu299Arg) n.1422T>G c.1246T>G (p.Phe416Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301032T= | CA1435772601 | WFS1 | c.1273T= (p.Phe425=) c.1214T= c.1237T= (p.Phe413=) c.988T= (p.Phe330=) c.896T= (p.Leu299=) n.1422T= c.1246T= (p.Phe416=) | |
4 | g.6301033dup | CA2840306457 | WFS1 | c.1274dup (p.Phe426LeufsTer?) c.1215dup c.1238dup (p.Phe414LeufsTer?) c.989dup (p.Phe331LeufsTer?) c.897dup (p.Leu300SerfsTer29) n.1423dup c.1247dup (p.Phe417LeufsTer?) | |
4 | g.6301032_6301033insAG | CA2760284853 | WFS1 | c.1273_1274insAG (p.Phe425Ter) c.1214_1215insAG c.1237_1238insAG (p.Phe413Ter) c.988_989insAG (p.Phe330Ter) c.896_897insAG (p.Leu300ValfsTer?) n.1422_1423insAG c.1246_1247insAG (p.Phe416Ter) | |
4 | g.6301033T>A | CA356174515 | WFS1 | c.1274T>A (p.Phe425Tyr) c.1215T>A c.1238T>A (p.Phe413Tyr) c.989T>A (p.Phe330Tyr) c.897T>A (p.Leu299=) n.1423T>A c.1247T>A (p.Phe416Tyr) | |
4 | g.6301033T>C | CA356174516 | WFS1 | c.1274T>C (p.Phe425Ser) c.1215T>C c.1238T>C (p.Phe413Ser) c.989T>C (p.Phe330Ser) c.897T>C (p.Leu299=) n.1423T>C c.1247T>C (p.Phe416Ser) | |
4 | g.6301033T>G | CA356174517 | WFS1 | c.1274T>G (p.Phe425Cys) c.1215T>G c.1238T>G (p.Phe413Cys) c.989T>G (p.Phe330Cys) c.897T>G (p.Leu299=) n.1423T>G c.1247T>G (p.Phe416Cys) | |
4 | g.6301034_6301035dup | CA1435772604 | WFS1 | c.1275_1276dup (p.Phe426SerfsTer29) c.1216_1217dup c.1239_1240dup (p.Phe414SerfsTer29) c.990_991dup (p.Phe331SerfsTer29) c.898_899dup (p.Arg301PhefsTer?) n.1424_1425dup c.1248_1249dup (p.Phe417SerfsTer29) | dbSNP |
4 | g.6301038_6301046dup | CA2573052346 | WFS1 | c.1279_1287dup (p.Phe429_Ser430insValIlePhe) c.1220_1228dup c.1243_1251dup (p.Phe417_Ser418insValIlePhe) c.994_1002dup (p.Phe334_Ser335insValIlePhe) c.902_910dup (p.Leu303_Leu304insArgHisLeu) n.1428_1436dup c.1252_1260dup (p.Phe420_Ser421insValIlePhe) | ClinVar dbSNP |
4 | g.6301034C>A | CA356174518 | WFS1 | c.1275C>A (p.Phe425Leu) c.1216C>A c.1239C>A (p.Phe413Leu) c.990C>A (p.Phe330Leu) c.898C>A (p.Leu300Ile) n.1424C>A c.1248C>A (p.Phe416Leu) | |
4 | g.6301034C= | CA1435772606 | WFS1 | c.1275C= (p.Phe425=) c.1216C= c.1239C= (p.Phe413=) c.990C= (p.Phe330=) c.898C= (p.Leu300=) n.1424C= c.1248C= (p.Phe416=) | |
4 | g.6301034C>G | CA356174519 | WFS1 | c.1275C>G (p.Phe425Leu) c.1216C>G c.1239C>G (p.Phe413Leu) c.990C>G (p.Phe330Leu) c.898C>G (p.Leu300Val) n.1424C>G c.1248C>G (p.Phe416Leu) | |
4 | g.6301034C>T | CA438368206 | WFS1 | c.1275C>T (p.Phe425=) c.1216C>T c.1239C>T (p.Phe413=) c.990C>T (p.Phe330=) c.898C>T (p.Leu300Phe) n.1424C>T c.1248C>T (p.Phe416=) | ClinVar dbSNP gnomAD v4 |
4 | g.6301035T>A | CA356174520 | WFS1 | c.1276T>A (p.Phe426Ile) c.1217T>A c.1240T>A (p.Phe414Ile) c.991T>A (p.Phe331Ile) c.899T>A (p.Leu300His) n.1425T>A c.1249T>A (p.Phe417Ile) | |
4 | g.6301035T>C | CA2839279 | WFS1 | c.1276T>C (p.Phe426Leu) c.1217T>C c.1240T>C (p.Phe414Leu) c.991T>C (p.Phe331Leu) c.899T>C (p.Leu300Pro) n.1425T>C c.1249T>C (p.Phe417Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301035T>G | CA356174521 | WFS1 | c.1276T>G (p.Phe426Val) c.1217T>G c.1240T>G (p.Phe414Val) c.991T>G (p.Phe331Val) c.899T>G (p.Leu300Arg) n.1425T>G c.1249T>G (p.Phe417Val) | gnomAD v4 |
4 | g.6301035T= | CA1435772609 | WFS1 | c.1276T= (p.Phe426=) c.1217T= c.1240T= (p.Phe414=) c.991T= (p.Phe331=) c.899T= (p.Leu300=) n.1425T= c.1249T= (p.Phe417=) | |
4 | g.6301035_6301038delinsTTCG | CA1435772608 | WFS1 | c.1276_1279delinsTTCG (p.Phe426=) c.1217_1220delinsTTCG c.1240_1243delinsTTCG (p.Phe414=) c.991_994delinsTTCG (p.Phe331=) c.899_902delinsTTCG (p.Leu300=) n.1425_1428delinsTTCG c.1249_1252delinsTTCG (p.Phe417=) | |
4 | g.6301036T>A | CA356174522 | WFS1 | c.1277T>A (p.Phe426Tyr) c.1218T>A c.1241T>A (p.Phe414Tyr) c.992T>A (p.Phe331Tyr) c.900T>A (p.Leu300=) n.1426T>A c.1250T>A (p.Phe417Tyr) | |
4 | g.6301036T>C | CA356174523 | WFS1 | c.1277T>C (p.Phe426Ser) c.1218T>C c.1241T>C (p.Phe414Ser) c.992T>C (p.Phe331Ser) c.900T>C (p.Leu300=) n.1426T>C c.1250T>C (p.Phe417Ser) | |
4 | g.6301036T>G | CA356174524 | WFS1 | c.1277T>G (p.Phe426Cys) c.1218T>G c.1241T>G (p.Phe414Cys) c.992T>G (p.Phe331Cys) c.900T>G (p.Leu300=) n.1426T>G c.1250T>G (p.Phe417Cys) | |
4 | g.6301038_6301040del | CA324375 | WFS1 | c.1279_1281del (p.Val427del) c.1220_1222del c.1243_1245del (p.Val415del) c.994_996del (p.Val332del) c.902_904del (p.Arg301del) n.1428_1430del c.1252_1254del (p.Val418del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301037C>A | CA356174525 | WFS1 | c.1278C>A (p.Phe426Leu) c.1219C>A c.1242C>A (p.Phe414Leu) c.993C>A (p.Phe331Leu) c.901C>A (p.Arg301Ser) n.1427C>A c.1251C>A (p.Phe417Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301037C= | CA1435772613 | WFS1 | c.1278C= (p.Phe426=) c.1219C= c.1242C= (p.Phe414=) c.993C= (p.Phe331=) c.901C= (p.Arg301=) n.1427C= c.1251C= (p.Phe417=) | |
4 | g.6301037C>G | CA356174526 | WFS1 | c.1278C>G (p.Phe426Leu) c.1219C>G c.1242C>G (p.Phe414Leu) c.993C>G (p.Phe331Leu) c.901C>G (p.Arg301Gly) n.1427C>G c.1251C>G (p.Phe417Leu) | |
4 | g.6301037C>T | CA2839280 | WFS1 | c.1278C>T (p.Phe426=) c.1219C>T c.1242C>T (p.Phe414=) c.993C>T (p.Phe331=) c.901C>T (p.Arg301Cys) n.1427C>T c.1251C>T (p.Phe417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6301038G>A | CA2839281 | WFS1 | c.1279G>A (p.Val427Ile) c.1220G>A c.1243G>A (p.Val415Ile) c.994G>A (p.Val332Ile) c.902G>A (p.Arg301His) n.1428G>A c.1252G>A (p.Val418Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301038G>C | CA2839282 | WFS1 | c.1279G>C (p.Val427Leu) c.1220G>C c.1243G>C (p.Val415Leu) c.994G>C (p.Val332Leu) c.902G>C (p.Arg301Pro) n.1428G>C c.1252G>C (p.Val418Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301038G= | CA1435772615 | WFS1 | c.1279G= (p.Val427=) c.1220G= c.1243G= (p.Val415=) c.994G= (p.Val332=) c.902G= (p.Arg301=) n.1428G= c.1252G= (p.Val418=) | |
4 | g.6301038G>T | CA356174527 | WFS1 | c.1279G>T (p.Val427Phe) c.1220G>T c.1243G>T (p.Val415Phe) c.994G>T (p.Val332Phe) c.902G>T (p.Arg301Leu) n.1428G>T c.1252G>T (p.Val418Phe) | ClinVar dbSNP |
4 | g.6301039T>A | CA356174529 | WFS1 | c.1280T>A (p.Val427Asp) c.1221T>A c.1244T>A (p.Val415Asp) c.995T>A (p.Val332Asp) c.903T>A (p.Arg301=) n.1429T>A c.1253T>A (p.Val418Asp) | |
4 | g.6301039T>C | CA356174528 | WFS1 | c.1280T>C (p.Val427Ala) c.1221T>C c.1244T>C (p.Val415Ala) c.995T>C (p.Val332Ala) c.903T>C (p.Arg301=) n.1429T>C c.1253T>C (p.Val418Ala) | |
4 | g.6301039T>G | CA356174530 | WFS1 | c.1280T>G (p.Val427Gly) c.1221T>G c.1244T>G (p.Val415Gly) c.995T>G (p.Val332Gly) c.903T>G (p.Arg301=) n.1429T>G c.1253T>G (p.Val418Gly) | |
4 | g.6301040C>A | CA438368211 | WFS1 | c.1281C>A (p.Val427=) c.1222C>A c.1245C>A (p.Val415=) c.996C>A (p.Val332=) c.904C>A (p.His302Asn) n.1430C>A c.1254C>A (p.Val418=) | |
4 | g.6301040C= | CA1435772617 | WFS1 | c.1281C= (p.Val427=) c.1222C= c.1245C= (p.Val415=) c.996C= (p.Val332=) c.904C= (p.His302=) n.1430C= c.1254C= (p.Val418=) | |
4 | g.6301040C>G | CA438368212 | WFS1 | c.1281C>G (p.Val427=) c.1222C>G c.1245C>G (p.Val415=) c.996C>G (p.Val332=) c.904C>G (p.His302Asp) n.1430C>G c.1254C>G (p.Val418=) | |
4 | g.6301040C>T | CA438368213 | WFS1 | c.1281C>T (p.Val427=) c.1222C>T c.1245C>T (p.Val415=) c.996C>T (p.Val332=) c.904C>T (p.His302Tyr) n.1430C>T c.1254C>T (p.Val418=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301044_6301058dup | CA2669843420 | WFS1 | c.1285_1299dup (p.Ile433_Ala434insPheSerPheProIle) c.1226_1240dup c.1249_1263dup (p.Ile421_Ala422insPheSerPheProIle) c.1000_1014dup (p.Ile338_Ala339insPheSerPheProIle) c.908_922dup (p.His307_Arg308insLeuLeuLeuProHis) n.1434_1448dup c.1258_1272dup (p.Ile424_Ala425insPheSerPheProIle) | gnomAD v4 |
4 | g.6301041A= | CA1435772619 | WFS1 | c.1282A= (p.Ile428=) c.1223A= c.1246A= (p.Ile416=) c.997A= (p.Ile333=) c.905A= (p.His302=) n.1431A= c.1255A= (p.Ile419=) | |
4 | g.6301041A>C | CA91796240 | WFS1 | c.1282A>C (p.Ile428Leu) c.1223A>C c.1246A>C (p.Ile416Leu) c.997A>C (p.Ile333Leu) c.905A>C (p.His302Pro) n.1431A>C c.1255A>C (p.Ile419Leu) | dbSNP |
4 | g.6301041A>G | CA356174532 | WFS1 | c.1282A>G (p.Ile428Val) c.1223A>G c.1246A>G (p.Ile416Val) c.997A>G (p.Ile333Val) c.905A>G (p.His302Arg) n.1431A>G c.1255A>G (p.Ile419Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301041A>T | CA356174531 | WFS1 | c.1282A>T (p.Ile428Phe) c.1223A>T c.1246A>T (p.Ile416Phe) c.997A>T (p.Ile333Phe) c.905A>T (p.His302Leu) n.1431A>T c.1255A>T (p.Ile419Phe) | |
4 | g.6301042T>A | CA356174533 | WFS1 | c.1283T>A (p.Ile428Asn) c.1224T>A c.1247T>A (p.Ile416Asn) c.998T>A (p.Ile333Asn) c.906T>A (p.His302Gln) n.1432T>A c.1256T>A (p.Ile419Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301042T>C | CA356174535 | WFS1 | c.1283T>C (p.Ile428Thr) c.1224T>C c.1247T>C (p.Ile416Thr) c.998T>C (p.Ile333Thr) c.906T>C (p.His302=) n.1432T>C c.1256T>C (p.Ile419Thr) | gnomAD v4 |
4 | g.6301042T>G | CA356174534 | WFS1 | c.1283T>G (p.Ile428Ser) c.1224T>G c.1247T>G (p.Ile416Ser) c.998T>G (p.Ile333Ser) c.906T>G (p.His302Gln) n.1432T>G c.1256T>G (p.Ile419Ser) | |
4 | g.6301042T= | CA1435772620 | WFS1 | c.1283T= (p.Ile428=) c.1224T= c.1247T= (p.Ile416=) c.998T= (p.Ile333=) c.906T= (p.His302=) n.1432T= c.1256T= (p.Ile419=) | |
4 | g.6301045_6301047del | CA2580616071 | WFS1 | c.1286_1288del (p.Phe429del) c.1227_1229del c.1250_1252del (p.Phe417del) c.1001_1003del (p.Phe334del) c.909_911del (p.Leu304del) n.1435_1437del c.1259_1261del (p.Phe420del) | ClinVar |
4 | g.6301043C>A | CA438368216 | WFS1 | c.1284C>A (p.Ile428=) c.1225C>A c.1248C>A (p.Ile416=) c.999C>A (p.Ile333=) c.907C>A (p.Leu303Ile) n.1433C>A c.1257C>A (p.Ile419=) | |
4 | g.6301043C= | CA1435772622 | WFS1 | c.1284C= (p.Ile428=) c.1225C= c.1248C= (p.Ile416=) c.999C= (p.Ile333=) c.907C= (p.Leu303=) n.1433C= c.1257C= (p.Ile419=) | |
4 | g.6301043C>G | CA356174536 | WFS1 | c.1284C>G (p.Ile428Met) c.1225C>G c.1248C>G (p.Ile416Met) c.999C>G (p.Ile333Met) c.907C>G (p.Leu303Val) n.1433C>G c.1257C>G (p.Ile419Met) | dbSNP |
4 | g.6301043C>T | CA438368215 | WFS1 | c.1284C>T (p.Ile428=) c.1225C>T c.1248C>T (p.Ile416=) c.999C>T (p.Ile333=) c.907C>T (p.Leu303Phe) n.1433C>T c.1257C>T (p.Ile419=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301044T>A | CA356174539 | WFS1 | c.1285T>A (p.Phe429Ile) c.1226T>A c.1249T>A (p.Phe417Ile) c.1000T>A (p.Phe334Ile) c.908T>A (p.Leu303His) n.1434T>A c.1258T>A (p.Phe420Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301044T>C | CA356174537 | WFS1 | c.1285T>C (p.Phe429Leu) c.1226T>C c.1249T>C (p.Phe417Leu) c.1000T>C (p.Phe334Leu) c.908T>C (p.Leu303Pro) n.1434T>C c.1258T>C (p.Phe420Leu) | |
4 | g.6301044T>G | CA356174538 | WFS1 | c.1285T>G (p.Phe429Val) c.1226T>G c.1249T>G (p.Phe417Val) c.1000T>G (p.Phe334Val) c.908T>G (p.Leu303Arg) n.1434T>G c.1258T>G (p.Phe420Val) | |
4 | g.6301044T= | CA1435772623 | WFS1 | c.1285T= (p.Phe429=) c.1226T= c.1249T= (p.Phe417=) c.1000T= (p.Phe334=) c.908T= (p.Leu303=) n.1434T= c.1258T= (p.Phe420=) | |
4 | g.6301045T>A | CA356174540 | WFS1 | c.1286T>A (p.Phe429Tyr) c.1227T>A c.1250T>A (p.Phe417Tyr) c.1001T>A (p.Phe334Tyr) c.909T>A (p.Leu303=) n.1435T>A c.1259T>A (p.Phe420Tyr) | |
4 | g.6301045T>C | CA2839283 | WFS1 | c.1286T>C (p.Phe429Ser) c.1227T>C c.1250T>C (p.Phe417Ser) c.1001T>C (p.Phe334Ser) c.909T>C (p.Leu303=) n.1435T>C c.1259T>C (p.Phe420Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301045T>G | CA356174541 | WFS1 | c.1286T>G (p.Phe429Cys) c.1227T>G c.1250T>G (p.Phe417Cys) c.1001T>G (p.Phe334Cys) c.909T>G (p.Leu303=) n.1435T>G c.1259T>G (p.Phe420Cys) | |
4 | g.6301045T= | CA1435772625 | WFS1 | c.1286T= (p.Phe429=) c.1227T= c.1250T= (p.Phe417=) c.1001T= (p.Phe334=) c.909T= (p.Leu303=) n.1435T= c.1259T= (p.Phe420=) | |
4 | g.6301046del | CA2578035789 | WFS1 | c.1287del (p.Ser430ProfsTer24) c.1228del c.1251del (p.Ser418ProfsTer24) c.1002del (p.Ser335ProfsTer24) c.910del (p.Leu304SerfsTer?) n.1436del c.1260del (p.Ser421ProfsTer24) | gnomAD v4 |
4 | g.6301046C>A | CA356174542 | WFS1 | c.1287C>A (p.Phe429Leu) c.1228C>A c.1251C>A (p.Phe417Leu) c.1002C>A (p.Phe334Leu) c.910C>A (p.Leu304Ile) n.1436C>A c.1260C>A (p.Phe420Leu) | |
4 | g.6301046C= | CA1435772627 | WFS1 | c.1287C= (p.Phe429=) c.1228C= c.1251C= (p.Phe417=) c.1002C= (p.Phe334=) c.910C= (p.Leu304=) n.1436C= c.1260C= (p.Phe420=) | |
4 | g.6301046C>G | CA356174543 | WFS1 | c.1287C>G (p.Phe429Leu) c.1228C>G c.1251C>G (p.Phe417Leu) c.1002C>G (p.Phe334Leu) c.910C>G (p.Leu304Val) n.1436C>G c.1260C>G (p.Phe420Leu) | gnomAD v4 |
4 | g.6301046C>T | CA2839284 | WFS1 | c.1287C>T (p.Phe429=) c.1228C>T c.1251C>T (p.Phe417=) c.1002C>T (p.Phe334=) c.910C>T (p.Leu304Phe) n.1436C>T c.1260C>T (p.Phe420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6301046_6301047delinsG | CA2586973611 | WFS1 | c.1287_1288delinsG (p.Phe429LeufsTer25) c.1228_1229delinsG c.1251_1252delinsG (p.Phe417LeufsTer25) c.1002_1003delinsG (p.Phe334LeufsTer25) c.910_911delinsG (p.Leu304AlafsTer?) n.1436_1437delinsG c.1260_1261delinsG (p.Phe420LeufsTer25) | |
4 | g.6301048_6301050del | CA2578035790 | WFS1 | c.1289_1291del (p.Ser430del) c.1230_1232del c.1253_1255del (p.Ser418del) c.1004_1006del (p.Ser335del) c.912_914del (p.Leu305del) n.1438_1440del c.1262_1264del (p.Ser421del) | gnomAD v4 |
4 | g.6301047T>A | CA356174544 | WFS1 | c.1288T>A (p.Ser430Thr) c.1229T>A c.1252T>A (p.Ser418Thr) c.1003T>A (p.Ser335Thr) c.911T>A (p.Leu304His) n.1437T>A c.1261T>A (p.Ser421Thr) | |
4 | g.6301047T>C | CA356174545 | WFS1 | c.1288T>C (p.Ser430Pro) c.1229T>C c.1252T>C (p.Ser418Pro) c.1003T>C (p.Ser335Pro) c.911T>C (p.Leu304Pro) n.1437T>C c.1261T>C (p.Ser421Pro) | |
4 | g.6301047T>G | CA356174546 | WFS1 | c.1288T>G (p.Ser430Ala) c.1229T>G c.1252T>G (p.Ser418Ala) c.1003T>G (p.Ser335Ala) c.911T>G (p.Leu304Arg) n.1437T>G c.1261T>G (p.Ser421Ala) | gnomAD v4 |
4 | g.6301048C>A | CA2839285 | WFS1 | c.1289C>A (p.Ser430Tyr) c.1230C>A c.1253C>A (p.Ser418Tyr) c.1004C>A (p.Ser335Tyr) c.912C>A (p.Leu304=) n.1438C>A c.1262C>A (p.Ser421Tyr) | dbSNP ExAC gnomAD v2 |
4 | g.6301048C= | CA1435772629 | WFS1 | c.1289C= (p.Ser430=) c.1230C= c.1253C= (p.Ser418=) c.1004C= (p.Ser335=) c.912C= (p.Leu304=) n.1438C= c.1262C= (p.Ser421=) | |
4 | g.6301048C>G | CA356174547 | WFS1 | c.1289C>G (p.Ser430Cys) c.1230C>G c.1253C>G (p.Ser418Cys) c.1004C>G (p.Ser335Cys) c.912C>G (p.Leu304=) n.1438C>G c.1262C>G (p.Ser421Cys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301048C>T | CA356174548 | WFS1 | c.1289C>T (p.Ser430Phe) c.1230C>T c.1253C>T (p.Ser418Phe) c.1004C>T (p.Ser335Phe) c.912C>T (p.Leu304=) n.1438C>T c.1262C>T (p.Ser421Phe) | dbSNP gnomAD v4 |
4 | g.6301050_6301055dup | CA2669843421 | WFS1 | c.1291_1296dup (p.Pro432_Ile433insPhePro) c.1232_1237dup c.1255_1260dup (p.Pro420_Ile421insPhePro) c.1006_1011dup (p.Pro337_Ile338insPhePro) c.914_919dup (p.Pro306_His307insLeuPro) n.1440_1445dup c.1264_1269dup (p.Pro423_Ile424insPhePro) | gnomAD v4 |
4 | g.6301048_6301049insTCT | CA2586973612 | WFS1 | c.1289_1290insTCT (p.Ser430_Phe431insLeu) c.1230_1231insTCT c.1253_1254insTCT (p.Ser418_Phe419insLeu) c.1004_1005insTCT (p.Ser335_Phe336insLeu) c.912_913insTCT (p.Leu304_Leu305insSer) n.1438_1439insTCT c.1262_1263insTCT (p.Ser421_Phe422insLeu) | |
4 | g.6301049C>A | CA438368385 | WFS1 | c.1290C>A (p.Ser430=) c.1231C>A c.1254C>A (p.Ser418=) c.1005C>A (p.Ser335=) c.913C>A (p.Leu305Ile) n.1439C>A c.1263C>A (p.Ser421=) | |
4 | g.6301049C= | CA1435772630 | WFS1 | c.1290C= (p.Ser430=) c.1231C= c.1254C= (p.Ser418=) c.1005C= (p.Ser335=) c.913C= (p.Leu305=) n.1439C= c.1263C= (p.Ser421=) | |
4 | g.6301049C>G | CA438368386 | WFS1 | c.1290C>G (p.Ser430=) c.1231C>G c.1254C>G (p.Ser418=) c.1005C>G (p.Ser335=) c.913C>G (p.Leu305Val) n.1439C>G c.1263C>G (p.Ser421=) | |
4 | g.6301049C>T | CA91796241 | WFS1 | c.1290C>T (p.Ser430=) c.1231C>T c.1254C>T (p.Ser418=) c.1005C>T (p.Ser335=) c.913C>T (p.Leu305Phe) n.1439C>T c.1263C>T (p.Ser421=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301050T>A | CA356174549 | WFS1 | c.1291T>A (p.Phe431Ile) c.1232T>A c.1255T>A (p.Phe419Ile) c.1006T>A (p.Phe336Ile) c.914T>A (p.Leu305His) n.1440T>A c.1264T>A (p.Phe422Ile) | |
4 | g.6301050T>C | CA356174550 | WFS1 | c.1291T>C (p.Phe431Leu) c.1232T>C c.1255T>C (p.Phe419Leu) c.1006T>C (p.Phe336Leu) c.914T>C (p.Leu305Pro) n.1440T>C c.1264T>C (p.Phe422Leu) | dbSNP gnomAD v4 |
4 | g.6301050T>G | CA356174551 | WFS1 | c.1291T>G (p.Phe431Val) c.1232T>G c.1255T>G (p.Phe419Val) c.1006T>G (p.Phe336Val) c.914T>G (p.Leu305Arg) n.1440T>G c.1264T>G (p.Phe422Val) | |
4 | g.6301050T= | CA1435772631 | WFS1 | c.1291T= (p.Phe431=) c.1232T= c.1255T= (p.Phe419=) c.1006T= (p.Phe336=) c.914T= (p.Leu305=) n.1440T= c.1264T= (p.Phe422=) | |
4 | g.6301051T>A | CA356174552 | WFS1 | c.1292T>A (p.Phe431Tyr) c.1233T>A c.1256T>A (p.Phe419Tyr) c.1007T>A (p.Phe336Tyr) c.915T>A (p.Leu305=) n.1441T>A c.1265T>A (p.Phe422Tyr) | dbSNP |
4 | g.6301051T>C | CA356174553 | WFS1 | c.1292T>C (p.Phe431Ser) c.1233T>C c.1256T>C (p.Phe419Ser) c.1007T>C (p.Phe336Ser) c.915T>C (p.Leu305=) n.1441T>C c.1265T>C (p.Phe422Ser) | |
4 | g.6301051T>G | CA356174554 | WFS1 | c.1292T>G (p.Phe431Cys) c.1233T>G c.1256T>G (p.Phe419Cys) c.1007T>G (p.Phe336Cys) c.915T>G (p.Leu305=) n.1441T>G c.1265T>G (p.Phe422Cys) | |
4 | g.6301051T= | CA1435772633 | WFS1 | c.1292T= (p.Phe431=) c.1233T= c.1256T= (p.Phe419=) c.1007T= (p.Phe336=) c.915T= (p.Leu305=) n.1441T= c.1265T= (p.Phe422=) |