Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.224503688_224503715delinsTGTGAGACA2580617718CUL3c.1314_1341delinsTCTCACA (p.Arg438_Ser447delinsSerLeuThr)
c.1116_1143delinsTCTCACA (p.Arg372_Ser381delinsSerLeuThr)
c.1242_1269delinsTCTCACA (p.Arg414_Ser423delinsSerLeuThr)
n.610_637delinsTCTCACA
c.38_65delinsTCTCACA (p.Gly13_Leu22delinsValSerGln)
c.1332_1359delinsTCTCACA (p.Arg444_Ser453delinsSerLeuThr)
c.1281_1308delinsTCTCACA (p.Arg427_Ser436delinsSerLeuThr)
c.1167_1194delinsTCTCACA (p.Arg389_Ser398delinsSerLeuThr)
c.1272_1299delinsTCTCACA (p.Arg424_Ser433delinsSerLeuThr)
c.1122_1149delinsTCTCACA (p.Arg374_Ser383delinsSerLeuThr)
c.1014_1041delinsTCTCACA (p.Arg338_Ser347delinsSerLeuThr)
ClinVar
2g.224503695_224503700delinsCTTTTACA1331555935CUL3c.1329_1334delinsTAAAAG (p.Asn443=)
c.1131_1136delinsTAAAAG (p.Asn377=)
c.1257_1262delinsTAAAAG (p.Asn419=)
n.625_630delinsTAAAAG
c.53_58delinsTAAAAG (p.Ile18=)
c.1347_1352delinsTAAAAG (p.Asn449=)
c.1296_1301delinsTAAAAG (p.Asn432=)
c.1182_1187delinsTAAAAG (p.Asn394=)
c.1287_1292delinsTAAAAG (p.Asn429=)
c.1137_1142delinsTAAAAG (p.Asn379=)
c.1029_1034delinsTAAAAG (p.Asn343=)
2g.224503699_224503703delCA2140017CUL3c.1329_1333del (p.Asn443LysfsTer4)
c.1131_1135del (p.Asn377LysfsTer4)
c.1257_1261del (p.Asn419LysfsTer4)
n.625_629del
c.53_57del (p.Ile18SerfsTer12)
c.1347_1351del (p.Asn449LysfsTer4)
c.1296_1300del (p.Asn432LysfsTer4)
c.1182_1186del (p.Asn394LysfsTer4)
c.1287_1291del (p.Asn429LysfsTer4)
c.1137_1141del (p.Asn379LysfsTer4)
c.1029_1033del (p.Asn343LysfsTer4)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503700A>CCA350827175CUL3c.1329T>G (p.Asn443Lys)
c.1131T>G (p.Asn377Lys)
c.1257T>G (p.Asn419Lys)
n.625T>G
c.53T>G (p.Ile18Arg)
c.1347T>G (p.Asn449Lys)
c.1296T>G (p.Asn432Lys)
c.1182T>G (p.Asn394Lys)
c.1287T>G (p.Asn429Lys)
c.1137T>G (p.Asn379Lys)
c.1029T>G (p.Asn343Lys)
2g.224503700A>GCA350827179CUL3c.1329T>C (p.Asn443=)
c.1131T>C (p.Asn377=)
c.1257T>C (p.Asn419=)
n.625T>C
c.53T>C (p.Ile18Thr)
c.1347T>C (p.Asn449=)
c.1296T>C (p.Asn432=)
c.1182T>C (p.Asn394=)
c.1287T>C (p.Asn429=)
c.1137T>C (p.Asn379=)
c.1029T>C (p.Asn343=)
2g.224503700A>TCA350827182CUL3c.1329T>A (p.Asn443Lys)
c.1131T>A (p.Asn377Lys)
c.1257T>A (p.Asn419Lys)
n.625T>A
c.53T>A (p.Ile18Lys)
c.1347T>A (p.Asn449Lys)
c.1296T>A (p.Asn432Lys)
c.1182T>A (p.Asn394Lys)
c.1287T>A (p.Asn429Lys)
c.1137T>A (p.Asn379Lys)
c.1029T>A (p.Asn343Lys)
2g.224503701T>ACA350827185CUL3c.1328A>T (p.Asn443Ile)
c.1130A>T (p.Asn377Ile)
c.1256A>T (p.Asn419Ile)
n.624A>T
c.52A>T (p.Ile18Leu)
c.1346A>T (p.Asn449Ile)
c.1295A>T (p.Asn432Ile)
c.1181A>T (p.Asn394Ile)
c.1286A>T (p.Asn429Ile)
c.1136A>T (p.Asn379Ile)
c.1028A>T (p.Asn343Ile)
dbSNP
2g.224503701T>CCA350827190CUL3c.1328A>G (p.Asn443Ser)
c.1130A>G (p.Asn377Ser)
c.1256A>G (p.Asn419Ser)
n.624A>G
c.52A>G (p.Ile18Val)
c.1346A>G (p.Asn449Ser)
c.1295A>G (p.Asn432Ser)
c.1181A>G (p.Asn394Ser)
c.1286A>G (p.Asn429Ser)
c.1136A>G (p.Asn379Ser)
c.1028A>G (p.Asn343Ser)
gnomAD v4
2g.224503701T>GCA350827187CUL3c.1328A>C (p.Asn443Thr)
c.1130A>C (p.Asn377Thr)
c.1256A>C (p.Asn419Thr)
n.624A>C
c.52A>C (p.Ile18Leu)
c.1346A>C (p.Asn449Thr)
c.1295A>C (p.Asn432Thr)
c.1181A>C (p.Asn394Thr)
c.1286A>C (p.Asn429Thr)
c.1136A>C (p.Asn379Thr)
c.1028A>C (p.Asn343Thr)
2g.224503702T>ACA350827195CUL3c.1327A>T (p.Asn443Tyr)
c.1129A>T (p.Asn377Tyr)
c.1255A>T (p.Asn419Tyr)
n.623A>T
c.51A>T (p.Gln17His)
c.1345A>T (p.Asn449Tyr)
c.1294A>T (p.Asn432Tyr)
c.1180A>T (p.Asn394Tyr)
c.1285A>T (p.Asn429Tyr)
c.1135A>T (p.Asn379Tyr)
c.1027A>T (p.Asn343Tyr)
2g.224503702T>CCA350827197CUL3c.1327A>G (p.Asn443Asp)
c.1129A>G (p.Asn377Asp)
c.1255A>G (p.Asn419Asp)
n.623A>G
c.51A>G (p.Gln17=)
c.1345A>G (p.Asn449Asp)
c.1294A>G (p.Asn432Asp)
c.1180A>G (p.Asn394Asp)
c.1285A>G (p.Asn429Asp)
c.1135A>G (p.Asn379Asp)
c.1027A>G (p.Asn343Asp)
dbSNP
2g.224503702T>GCA350827199CUL3c.1327A>C (p.Asn443His)
c.1129A>C (p.Asn377His)
c.1255A>C (p.Asn419His)
n.623A>C
c.51A>C (p.Gln17His)
c.1345A>C (p.Asn449His)
c.1294A>C (p.Asn432His)
c.1180A>C (p.Asn394His)
c.1285A>C (p.Asn429His)
c.1135A>C (p.Asn379His)
c.1027A>C (p.Asn343His)
2g.224503703T>ACA350827202CUL3c.1326A>T (p.Thr442=)
c.1128A>T (p.Thr376=)
c.1254A>T (p.Thr418=)
n.622A>T
c.50A>T (p.Gln17Leu)
c.1344A>T (p.Thr448=)
c.1293A>T (p.Thr431=)
c.1179A>T (p.Thr393=)
c.1284A>T (p.Thr428=)
c.1134A>T (p.Thr378=)
c.1026A>T (p.Thr342=)
2g.224503703T>CCA350827205CUL3c.1326A>G (p.Thr442=)
c.1128A>G (p.Thr376=)
c.1254A>G (p.Thr418=)
n.622A>G
c.50A>G (p.Gln17Arg)
c.1344A>G (p.Thr448=)
c.1293A>G (p.Thr431=)
c.1179A>G (p.Thr393=)
c.1284A>G (p.Thr428=)
c.1134A>G (p.Thr378=)
c.1026A>G (p.Thr342=)
dbSNP gnomAD v3 gnomAD v4
2g.224503703T>GCA350827207CUL3c.1326A>C (p.Thr442=)
c.1128A>C (p.Thr376=)
c.1254A>C (p.Thr418=)
n.622A>C
c.50A>C (p.Gln17Pro)
c.1344A>C (p.Thr448=)
c.1293A>C (p.Thr431=)
c.1179A>C (p.Thr393=)
c.1284A>C (p.Thr428=)
c.1134A>C (p.Thr378=)
c.1026A>C (p.Thr342=)
2g.224503703T=CA1331555937CUL3c.1326A= (p.Thr442=)
c.1128A= (p.Thr376=)
c.1254A= (p.Thr418=)
n.622A=
c.50A= (p.Gln17=)
c.1344A= (p.Thr448=)
c.1293A= (p.Thr431=)
c.1179A= (p.Thr393=)
c.1284A= (p.Thr428=)
c.1134A= (p.Thr378=)
c.1026A= (p.Thr342=)
2g.224503704G>ACA350827211CUL3c.1325C>T (p.Thr442Ile)
c.1127C>T (p.Thr376Ile)
c.1253C>T (p.Thr418Ile)
n.621C>T
c.49C>T (p.Gln17Ter)
c.1343C>T (p.Thr448Ile)
c.1292C>T (p.Thr431Ile)
c.1178C>T (p.Thr393Ile)
c.1283C>T (p.Thr428Ile)
c.1133C>T (p.Thr378Ile)
c.1025C>T (p.Thr342Ile)
dbSNP
2g.224503704G>CCA350827214CUL3c.1325C>G (p.Thr442Arg)
c.1127C>G (p.Thr376Arg)
c.1253C>G (p.Thr418Arg)
n.621C>G
c.49C>G (p.Gln17Glu)
c.1343C>G (p.Thr448Arg)
c.1292C>G (p.Thr431Arg)
c.1178C>G (p.Thr393Arg)
c.1283C>G (p.Thr428Arg)
c.1133C>G (p.Thr378Arg)
c.1025C>G (p.Thr342Arg)
dbSNP COSMIC
2g.224503704G>TCA350827216CUL3c.1325C>A (p.Thr442Lys)
c.1127C>A (p.Thr376Lys)
c.1253C>A (p.Thr418Lys)
n.621C>A
c.49C>A (p.Gln17Lys)
c.1343C>A (p.Thr448Lys)
c.1292C>A (p.Thr431Lys)
c.1178C>A (p.Thr393Lys)
c.1283C>A (p.Thr428Lys)
c.1133C>A (p.Thr378Lys)
c.1025C>A (p.Thr342Lys)
dbSNP
2g.224503704_224503705insGTAGATTATTAAGCA2701737684CUL3c.1325_1326insTTAATAATCTACC (p.Asn443Ter)
c.1127_1128insTTAATAATCTACC (p.Asn377Ter)
c.1253_1254insTTAATAATCTACC (p.Asn419Ter)
n.621_622insTTAATAATCTACC
c.49_50insTTAATAATCTACC (p.Gln17LeufsTer19)
c.1343_1344insTTAATAATCTACC (p.Asn449Ter)
c.1292_1293insTTAATAATCTACC (p.Asn432Ter)
c.1178_1179insTTAATAATCTACC (p.Asn394Ter)
c.1283_1284insTTAATAATCTACC (p.Asn429Ter)
c.1133_1134insTTAATAATCTACC (p.Asn379Ter)
c.1025_1026insTTAATAATCTACC (p.Asn343Ter)
dbSNP
2g.224503705T>ACA350827220CUL3c.1324A>T (p.Thr442Ser)
c.1126A>T (p.Thr376Ser)
c.1252A>T (p.Thr418Ser)
n.620A>T
c.48A>T (p.Ser16=)
c.1342A>T (p.Thr448Ser)
c.1291A>T (p.Thr431Ser)
c.1177A>T (p.Thr393Ser)
c.1282A>T (p.Thr428Ser)
c.1132A>T (p.Thr378Ser)
c.1024A>T (p.Thr342Ser)
dbSNP
2g.224503705T>CCA350827223CUL3c.1324A>G (p.Thr442Ala)
c.1126A>G (p.Thr376Ala)
c.1252A>G (p.Thr418Ala)
n.620A>G
c.48A>G (p.Ser16=)
c.1342A>G (p.Thr448Ala)
c.1291A>G (p.Thr431Ala)
c.1177A>G (p.Thr393Ala)
c.1282A>G (p.Thr428Ala)
c.1132A>G (p.Thr378Ala)
c.1024A>G (p.Thr342Ala)
2g.224503705T>GCA350827225CUL3c.1324A>C (p.Thr442Pro)
c.1126A>C (p.Thr376Pro)
c.1252A>C (p.Thr418Pro)
n.620A>C
c.48A>C (p.Ser16=)
c.1342A>C (p.Thr448Pro)
c.1291A>C (p.Thr431Pro)
c.1177A>C (p.Thr393Pro)
c.1282A>C (p.Thr428Pro)
c.1132A>C (p.Thr378Pro)
c.1024A>C (p.Thr342Pro)
2g.224503706G>ACA350827233CUL3c.1323C>T (p.Leu441=)
c.1125C>T (p.Leu375=)
c.1251C>T (p.Leu417=)
n.619C>T
c.47C>T (p.Ser16Leu)
c.1341C>T (p.Leu447=)
c.1290C>T (p.Leu430=)
c.1176C>T (p.Leu392=)
c.1281C>T (p.Leu427=)
c.1131C>T (p.Leu377=)
c.1023C>T (p.Leu341=)
ClinVar dbSNP gnomAD v4
2g.224503706G>CCA350827229CUL3c.1323C>G (p.Leu441=)
c.1125C>G (p.Leu375=)
c.1251C>G (p.Leu417=)
n.619C>G
c.47C>G (p.Ser16Ter)
c.1341C>G (p.Leu447=)
c.1290C>G (p.Leu430=)
c.1176C>G (p.Leu392=)
c.1281C>G (p.Leu427=)
c.1131C>G (p.Leu377=)
c.1023C>G (p.Leu341=)
2g.224503706G=CA1331555938CUL3c.1323C= (p.Leu441=)
c.1125C= (p.Leu375=)
c.1251C= (p.Leu417=)
n.619C=
c.47C= (p.Ser16=)
c.1341C= (p.Leu447=)
c.1290C= (p.Leu430=)
c.1176C= (p.Leu392=)
c.1281C= (p.Leu427=)
c.1131C= (p.Leu377=)
c.1023C= (p.Leu341=)
2g.224503706G>TCA350827232CUL3c.1323C>A (p.Leu441=)
c.1125C>A (p.Leu375=)
c.1251C>A (p.Leu417=)
n.619C>A
c.47C>A (p.Ser16Ter)
c.1341C>A (p.Leu447=)
c.1290C>A (p.Leu430=)
c.1176C>A (p.Leu392=)
c.1281C>A (p.Leu427=)
c.1131C>A (p.Leu377=)
c.1023C>A (p.Leu341=)
2g.224503707A>CCA350827236CUL3c.1322T>G (p.Leu441Arg)
c.1124T>G (p.Leu375Arg)
c.1250T>G (p.Leu417Arg)
n.618T>G
c.46T>G (p.Ser16Ala)
c.1340T>G (p.Leu447Arg)
c.1289T>G (p.Leu430Arg)
c.1175T>G (p.Leu392Arg)
c.1280T>G (p.Leu427Arg)
c.1130T>G (p.Leu377Arg)
c.1022T>G (p.Leu341Arg)
2g.224503707A>GCA350827240CUL3c.1322T>C (p.Leu441Pro)
c.1124T>C (p.Leu375Pro)
c.1250T>C (p.Leu417Pro)
n.618T>C
c.46T>C (p.Ser16Pro)
c.1340T>C (p.Leu447Pro)
c.1289T>C (p.Leu430Pro)
c.1175T>C (p.Leu392Pro)
c.1280T>C (p.Leu427Pro)
c.1130T>C (p.Leu377Pro)
c.1022T>C (p.Leu341Pro)
2g.224503707A>TCA350827241CUL3c.1322T>A (p.Leu441His)
c.1124T>A (p.Leu375His)
c.1250T>A (p.Leu417His)
n.618T>A
c.46T>A (p.Ser16Thr)
c.1340T>A (p.Leu447His)
c.1289T>A (p.Leu430His)
c.1175T>A (p.Leu392His)
c.1280T>A (p.Leu427His)
c.1130T>A (p.Leu377His)
c.1022T>A (p.Leu341His)
dbSNP
2g.224503708G>ACA350827245CUL3c.1321C>T (p.Leu441Phe)
c.1123C>T (p.Leu375Phe)
c.1249C>T (p.Leu417Phe)
n.617C>T
c.45C>T (p.Phe15=)
c.1339C>T (p.Leu447Phe)
c.1288C>T (p.Leu430Phe)
c.1174C>T (p.Leu392Phe)
c.1279C>T (p.Leu427Phe)
c.1129C>T (p.Leu377Phe)
c.1021C>T (p.Leu341Phe)
dbSNP
2g.224503708G>CCA350827246CUL3c.1321C>G (p.Leu441Val)
c.1123C>G (p.Leu375Val)
c.1249C>G (p.Leu417Val)
n.617C>G
c.45C>G (p.Phe15Leu)
c.1339C>G (p.Leu447Val)
c.1288C>G (p.Leu430Val)
c.1174C>G (p.Leu392Val)
c.1279C>G (p.Leu427Val)
c.1129C>G (p.Leu377Val)
c.1021C>G (p.Leu341Val)
dbSNP
2g.224503708G>TCA350827249CUL3c.1321C>A (p.Leu441Ile)
c.1123C>A (p.Leu375Ile)
c.1249C>A (p.Leu417Ile)
n.617C>A
c.45C>A (p.Phe15Leu)
c.1339C>A (p.Leu447Ile)
c.1288C>A (p.Leu430Ile)
c.1174C>A (p.Leu392Ile)
c.1279C>A (p.Leu427Ile)
c.1129C>A (p.Leu377Ile)
c.1021C>A (p.Leu341Ile)
dbSNP
2g.224503709A>CCA350827257CUL3c.1320T>G (p.Leu440=)
c.1122T>G (p.Leu374=)
c.1248T>G (p.Leu416=)
n.616T>G
c.44T>G (p.Phe15Cys)
c.1338T>G (p.Leu446=)
c.1287T>G (p.Leu429=)
c.1173T>G (p.Leu391=)
c.1278T>G (p.Leu426=)
c.1128T>G (p.Leu376=)
c.1020T>G (p.Leu340=)
2g.224503709A>GCA350827254CUL3c.1320T>C (p.Leu440=)
c.1122T>C (p.Leu374=)
c.1248T>C (p.Leu416=)
n.616T>C
c.44T>C (p.Phe15Ser)
c.1338T>C (p.Leu446=)
c.1287T>C (p.Leu429=)
c.1173T>C (p.Leu391=)
c.1278T>C (p.Leu426=)
c.1128T>C (p.Leu376=)
c.1020T>C (p.Leu340=)
gnomAD v4
2g.224503709A>TCA350827252CUL3c.1320T>A (p.Leu440=)
c.1122T>A (p.Leu374=)
c.1248T>A (p.Leu416=)
n.616T>A
c.44T>A (p.Phe15Tyr)
c.1338T>A (p.Leu446=)
c.1287T>A (p.Leu429=)
c.1173T>A (p.Leu391=)
c.1278T>A (p.Leu426=)
c.1128T>A (p.Leu376=)
c.1020T>A (p.Leu340=)
2g.224503710A>CCA350827262CUL3c.1319T>G (p.Leu440Arg)
c.1121T>G (p.Leu374Arg)
c.1247T>G (p.Leu416Arg)
n.615T>G
c.43T>G (p.Phe15Val)
c.1337T>G (p.Leu446Arg)
c.1286T>G (p.Leu429Arg)
c.1172T>G (p.Leu391Arg)
c.1277T>G (p.Leu426Arg)
c.1127T>G (p.Leu376Arg)
c.1019T>G (p.Leu340Arg)
2g.224503710A>GCA350827266CUL3c.1319T>C (p.Leu440Pro)
c.1121T>C (p.Leu374Pro)
c.1247T>C (p.Leu416Pro)
n.615T>C
c.43T>C (p.Phe15Leu)
c.1337T>C (p.Leu446Pro)
c.1286T>C (p.Leu429Pro)
c.1172T>C (p.Leu391Pro)
c.1277T>C (p.Leu426Pro)
c.1127T>C (p.Leu376Pro)
c.1019T>C (p.Leu340Pro)
2g.224503710A>TCA350827268CUL3c.1319T>A (p.Leu440His)
c.1121T>A (p.Leu374His)
c.1247T>A (p.Leu416His)
n.615T>A
c.43T>A (p.Phe15Ile)
c.1337T>A (p.Leu446His)
c.1286T>A (p.Leu429His)
c.1172T>A (p.Leu391His)
c.1277T>A (p.Leu426His)
c.1127T>A (p.Leu376His)
c.1019T>A (p.Leu340His)
dbSNP
2g.224503711G>ACA350827270CUL3c.1318C>T (p.Leu440Phe)
c.1120C>T (p.Leu374Phe)
c.1246C>T (p.Leu416Phe)
n.614C>T
c.42C>T (p.Asp14=)
c.1336C>T (p.Leu446Phe)
c.1285C>T (p.Leu429Phe)
c.1171C>T (p.Leu391Phe)
c.1276C>T (p.Leu426Phe)
c.1126C>T (p.Leu376Phe)
c.1018C>T (p.Leu340Phe)
2g.224503711G>CCA350827273CUL3c.1318C>G (p.Leu440Val)
c.1120C>G (p.Leu374Val)
c.1246C>G (p.Leu416Val)
n.614C>G
c.42C>G (p.Asp14Glu)
c.1336C>G (p.Leu446Val)
c.1285C>G (p.Leu429Val)
c.1171C>G (p.Leu391Val)
c.1276C>G (p.Leu426Val)
c.1126C>G (p.Leu376Val)
c.1018C>G (p.Leu340Val)
dbSNP
2g.224503711G>TCA350827276CUL3c.1318C>A (p.Leu440Ile)
c.1120C>A (p.Leu374Ile)
c.1246C>A (p.Leu416Ile)
n.614C>A
c.42C>A (p.Asp14Glu)
c.1336C>A (p.Leu446Ile)
c.1285C>A (p.Leu429Ile)
c.1171C>A (p.Leu391Ile)
c.1276C>A (p.Leu426Ile)
c.1126C>A (p.Leu376Ile)
c.1018C>A (p.Leu340Ile)
2g.224503712T>ACA350827279CUL3c.1317A>T (p.Arg439Ser)
c.1119A>T (p.Arg373Ser)
c.1245A>T (p.Arg415Ser)
n.613A>T
c.41A>T (p.Asp14Val)
c.1335A>T (p.Arg445Ser)
c.1284A>T (p.Arg428Ser)
c.1170A>T (p.Arg390Ser)
c.1275A>T (p.Arg425Ser)
c.1125A>T (p.Arg375Ser)
c.1017A>T (p.Arg339Ser)
dbSNP
2g.224503712T>CCA2140018CUL3c.1317A>G (p.Arg439=)
c.1119A>G (p.Arg373=)
c.1245A>G (p.Arg415=)
n.613A>G
c.41A>G (p.Asp14Gly)
c.1335A>G (p.Arg445=)
c.1284A>G (p.Arg428=)
c.1170A>G (p.Arg390=)
c.1275A>G (p.Arg425=)
c.1125A>G (p.Arg375=)
c.1017A>G (p.Arg339=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503712T>GCA350827282CUL3c.1317A>C (p.Arg439Ser)
c.1119A>C (p.Arg373Ser)
c.1245A>C (p.Arg415Ser)
n.613A>C
c.41A>C (p.Asp14Ala)
c.1335A>C (p.Arg445Ser)
c.1284A>C (p.Arg428Ser)
c.1170A>C (p.Arg390Ser)
c.1275A>C (p.Arg425Ser)
c.1125A>C (p.Arg375Ser)
c.1017A>C (p.Arg339Ser)
dbSNP
2g.224503712T=CA1331555939CUL3c.1317A= (p.Arg439=)
c.1119A= (p.Arg373=)
c.1245A= (p.Arg415=)
n.613A=
c.41A= (p.Asp14=)
c.1335A= (p.Arg445=)
c.1284A= (p.Arg428=)
c.1170A= (p.Arg390=)
c.1275A= (p.Arg425=)
c.1125A= (p.Arg375=)
c.1017A= (p.Arg339=)
2g.224503713C>ACA350827285CUL3c.1316G>T (p.Arg439Ile)
c.1118G>T (p.Arg373Ile)
c.1244G>T (p.Arg415Ile)
n.612G>T
c.40G>T (p.Asp14Tyr)
c.1334G>T (p.Arg445Ile)
c.1283G>T (p.Arg428Ile)
c.1169G>T (p.Arg390Ile)
c.1274G>T (p.Arg425Ile)
c.1124G>T (p.Arg375Ile)
c.1016G>T (p.Arg339Ile)
2g.224503713C>GCA350827286CUL3c.1316G>C (p.Arg439Thr)
c.1118G>C (p.Arg373Thr)
c.1244G>C (p.Arg415Thr)
n.612G>C
c.40G>C (p.Asp14His)
c.1334G>C (p.Arg445Thr)
c.1283G>C (p.Arg428Thr)
c.1169G>C (p.Arg390Thr)
c.1274G>C (p.Arg425Thr)
c.1124G>C (p.Arg375Thr)
c.1016G>C (p.Arg339Thr)
dbSNP
2g.224503713C>TCA350827289CUL3c.1316G>A (p.Arg439Lys)
c.1118G>A (p.Arg373Lys)
c.1244G>A (p.Arg415Lys)
n.612G>A
c.40G>A (p.Asp14Asn)
c.1334G>A (p.Arg445Lys)
c.1283G>A (p.Arg428Lys)
c.1169G>A (p.Arg390Lys)
c.1274G>A (p.Arg425Lys)
c.1124G>A (p.Arg375Lys)
c.1016G>A (p.Arg339Lys)
dbSNP
2g.224503715_224503717delCA645514936CUL3c.1314_1316del (p.Arg439del)
c.1116_1118del (p.Arg373del)
c.1242_1244del (p.Arg415del)
n.610_612del
c.38_40del (p.Gly13del)
c.1332_1334del (p.Arg445del)
c.1281_1283del (p.Arg428del)
c.1167_1169del (p.Arg390del)
c.1272_1274del (p.Arg425del)
c.1122_1124del (p.Arg375del)
c.1014_1016del (p.Arg339del)
COSMIC
2g.224503714T>ACA350827292CUL3c.1315A>T (p.Arg439Ter)
c.1117A>T (p.Arg373Ter)
c.1243A>T (p.Arg415Ter)
n.611A>T
c.39A>T (p.Gly13=)
c.1333A>T (p.Arg445Ter)
c.1282A>T (p.Arg428Ter)
c.1168A>T (p.Arg390Ter)
c.1273A>T (p.Arg425Ter)
c.1123A>T (p.Arg375Ter)
c.1015A>T (p.Arg339Ter)
2g.224503714T>CCA350827295CUL3c.1315A>G (p.Arg439Gly)
c.1117A>G (p.Arg373Gly)
c.1243A>G (p.Arg415Gly)
n.611A>G
c.39A>G (p.Gly13=)
c.1333A>G (p.Arg445Gly)
c.1282A>G (p.Arg428Gly)
c.1168A>G (p.Arg390Gly)
c.1273A>G (p.Arg425Gly)
c.1123A>G (p.Arg375Gly)
c.1015A>G (p.Arg339Gly)
2g.224503714T>GCA431492657CUL3c.1315A>C (p.Arg439=)
c.1117A>C (p.Arg373=)
c.1243A>C (p.Arg415=)
n.611A>C
c.39A>C (p.Gly13=)
c.1333A>C (p.Arg445=)
c.1282A>C (p.Arg428=)
c.1168A>C (p.Arg390=)
c.1273A>C (p.Arg425=)
c.1123A>C (p.Arg375=)
c.1015A>C (p.Arg339=)
2g.224503715C>ACA350827297CUL3c.1314G>T (p.Arg438Ser)
c.1116G>T (p.Arg372Ser)
c.1242G>T (p.Arg414Ser)
n.610G>T
c.38G>T (p.Gly13Val)
c.1332G>T (p.Arg444Ser)
c.1281G>T (p.Arg427Ser)
c.1167G>T (p.Arg389Ser)
c.1272G>T (p.Arg424Ser)
c.1122G>T (p.Arg374Ser)
c.1014G>T (p.Arg338Ser)
2g.224503715C>GCA350827299CUL3c.1314G>C (p.Arg438Ser)
c.1116G>C (p.Arg372Ser)
c.1242G>C (p.Arg414Ser)
n.610G>C
c.38G>C (p.Gly13Ala)
c.1332G>C (p.Arg444Ser)
c.1281G>C (p.Arg427Ser)
c.1167G>C (p.Arg389Ser)
c.1272G>C (p.Arg424Ser)
c.1122G>C (p.Arg374Ser)
c.1014G>C (p.Arg338Ser)
dbSNP
2g.224503715C>TCA350827302CUL3c.1314G>A (p.Arg438=)
c.1116G>A (p.Arg372=)
c.1242G>A (p.Arg414=)
n.610G>A
c.38G>A (p.Gly13Glu)
c.1332G>A (p.Arg444=)
c.1281G>A (p.Arg427=)
c.1167G>A (p.Arg389=)
c.1272G>A (p.Arg424=)
c.1122G>A (p.Arg374=)
c.1014G>A (p.Arg338=)
dbSNP
2g.224503716delCA2577260323CUL3c.1314del (p.Arg439AspfsTer16)
c.1116del (p.Arg373AspfsTer16)
c.1242del (p.Arg415AspfsTer16)
n.610del
c.38del (p.Gly13GlufsTer6)
c.1332del (p.Arg445AspfsTer16)
c.1281del (p.Arg428AspfsTer16)
c.1167del (p.Arg390AspfsTer16)
c.1272del (p.Arg425AspfsTer16)
c.1122del (p.Arg375AspfsTer16)
c.1014del (p.Arg339AspfsTer16)
2g.224503716C>ACA350827306CUL3c.1313G>T (p.Arg438Met)
c.1115G>T (p.Arg372Met)
c.1241G>T (p.Arg414Met)
n.609G>T
c.37G>T (p.Gly13Ter)
c.1331G>T (p.Arg444Met)
c.1280G>T (p.Arg427Met)
c.1166G>T (p.Arg389Met)
c.1271G>T (p.Arg424Met)
c.1121G>T (p.Arg374Met)
c.1013G>T (p.Arg338Met)
dbSNP gnomAD v4
2g.224503716C>GCA350827307CUL3c.1313G>C (p.Arg438Thr)
c.1115G>C (p.Arg372Thr)
c.1241G>C (p.Arg414Thr)
n.609G>C
c.37G>C (p.Gly13Arg)
c.1331G>C (p.Arg444Thr)
c.1280G>C (p.Arg427Thr)
c.1166G>C (p.Arg389Thr)
c.1271G>C (p.Arg424Thr)
c.1121G>C (p.Arg374Thr)
c.1013G>C (p.Arg338Thr)
dbSNP
2g.224503716C>TCA350827308CUL3c.1313G>A (p.Arg438Lys)
c.1115G>A (p.Arg372Lys)
c.1241G>A (p.Arg414Lys)
n.609G>A
c.37G>A (p.Gly13Arg)
c.1331G>A (p.Arg444Lys)
c.1280G>A (p.Arg427Lys)
c.1166G>A (p.Arg389Lys)
c.1271G>A (p.Arg424Lys)
c.1121G>A (p.Arg374Lys)
c.1013G>A (p.Arg338Lys)
dbSNP
2g.224503717T>ACA350827309CUL3c.1312A>T (p.Arg438Trp)
c.1114A>T (p.Arg372Trp)
c.1240A>T (p.Arg414Trp)
n.608A>T
c.36A>T (p.Gln12His)
c.1330A>T (p.Arg444Trp)
c.1279A>T (p.Arg427Trp)
c.1165A>T (p.Arg389Trp)
c.1270A>T (p.Arg424Trp)
c.1120A>T (p.Arg374Trp)
c.1012A>T (p.Arg338Trp)
2g.224503717T>CCA350827311CUL3c.1312A>G (p.Arg438Gly)
c.1114A>G (p.Arg372Gly)
c.1240A>G (p.Arg414Gly)
n.608A>G
c.36A>G (p.Gln12=)
c.1330A>G (p.Arg444Gly)
c.1279A>G (p.Arg427Gly)
c.1165A>G (p.Arg389Gly)
c.1270A>G (p.Arg424Gly)
c.1120A>G (p.Arg374Gly)
c.1012A>G (p.Arg338Gly)
2g.224503717T>GCA350827310CUL3c.1312A>C (p.Arg438=)
c.1114A>C (p.Arg372=)
c.1240A>C (p.Arg414=)
n.608A>C
c.36A>C (p.Gln12His)
c.1330A>C (p.Arg444=)
c.1279A>C (p.Arg427=)
c.1165A>C (p.Arg389=)
c.1270A>C (p.Arg424=)
c.1120A>C (p.Arg374=)
c.1012A>C (p.Arg338=)
2g.224503718T>ACA350827312CUL3c.1311A>T (p.Ala437=)
c.1113A>T (p.Ala371=)
c.1239A>T (p.Ala413=)
n.607A>T
c.35A>T (p.Gln12Leu)
c.1329A>T (p.Ala443=)
c.1278A>T (p.Ala426=)
c.1164A>T (p.Ala388=)
c.1269A>T (p.Ala423=)
c.1119A>T (p.Ala373=)
c.1011A>T (p.Ala337=)
2g.224503718T>CCA350827314CUL3c.1311A>G (p.Ala437=)
c.1113A>G (p.Ala371=)
c.1239A>G (p.Ala413=)
n.607A>G
c.35A>G (p.Gln12Arg)
c.1329A>G (p.Ala443=)
c.1278A>G (p.Ala426=)
c.1164A>G (p.Ala388=)
c.1269A>G (p.Ala423=)
c.1119A>G (p.Ala373=)
c.1011A>G (p.Ala337=)
2g.224503718T>GCA350827313CUL3c.1311A>C (p.Ala437=)
c.1113A>C (p.Ala371=)
c.1239A>C (p.Ala413=)
n.607A>C
c.35A>C (p.Gln12Pro)
c.1329A>C (p.Ala443=)
c.1278A>C (p.Ala426=)
c.1164A>C (p.Ala388=)
c.1269A>C (p.Ala423=)
c.1119A>C (p.Ala373=)
c.1011A>C (p.Ala337=)
2g.224503719G>ACA350827315CUL3c.1310C>T (p.Ala437Val)
c.1112C>T (p.Ala371Val)
c.1238C>T (p.Ala413Val)
n.606C>T
c.34C>T (p.Gln12Ter)
c.1328C>T (p.Ala443Val)
c.1277C>T (p.Ala426Val)
c.1163C>T (p.Ala388Val)
c.1268C>T (p.Ala423Val)
c.1118C>T (p.Ala373Val)
c.1010C>T (p.Ala337Val)
dbSNP
2g.224503719G>CCA350827317CUL3c.1310C>G (p.Ala437Gly)
c.1112C>G (p.Ala371Gly)
c.1238C>G (p.Ala413Gly)
n.606C>G
c.34C>G (p.Gln12Glu)
c.1328C>G (p.Ala443Gly)
c.1277C>G (p.Ala426Gly)
c.1163C>G (p.Ala388Gly)
c.1268C>G (p.Ala423Gly)
c.1118C>G (p.Ala373Gly)
c.1010C>G (p.Ala337Gly)
2g.224503719G>TCA350827318CUL3c.1310C>A (p.Ala437Glu)
c.1112C>A (p.Ala371Glu)
c.1238C>A (p.Ala413Glu)
n.606C>A
c.34C>A (p.Gln12Lys)
c.1328C>A (p.Ala443Glu)
c.1277C>A (p.Ala426Glu)
c.1163C>A (p.Ala388Glu)
c.1268C>A (p.Ala423Glu)
c.1118C>A (p.Ala373Glu)
c.1010C>A (p.Ala337Glu)
2g.224503720C>ACA350827320CUL3c.1309G>T (p.Ala437Ser)
c.1111G>T (p.Ala371Ser)
c.1237G>T (p.Ala413Ser)
n.605G>T
c.33G>T (p.Trp11Cys)
c.1327G>T (p.Ala443Ser)
c.1276G>T (p.Ala426Ser)
c.1162G>T (p.Ala388Ser)
c.1267G>T (p.Ala423Ser)
c.1117G>T (p.Ala373Ser)
c.1009G>T (p.Ala337Ser)
dbSNP
2g.224503720C>GCA350827322CUL3c.1309G>C (p.Ala437Pro)
c.1111G>C (p.Ala371Pro)
c.1237G>C (p.Ala413Pro)
n.605G>C
c.33G>C (p.Trp11Cys)
c.1327G>C (p.Ala443Pro)
c.1276G>C (p.Ala426Pro)
c.1162G>C (p.Ala388Pro)
c.1267G>C (p.Ala423Pro)
c.1117G>C (p.Ala373Pro)
c.1009G>C (p.Ala337Pro)
dbSNP
2g.224503720C>TCA350827323CUL3c.1309G>A (p.Ala437Thr)
c.1111G>A (p.Ala371Thr)
c.1237G>A (p.Ala413Thr)
n.605G>A
c.33G>A (p.Trp11Ter)
c.1327G>A (p.Ala443Thr)
c.1276G>A (p.Ala426Thr)
c.1162G>A (p.Ala388Thr)
c.1267G>A (p.Ala423Thr)
c.1117G>A (p.Ala373Thr)
c.1009G>A (p.Ala337Thr)
dbSNP
2g.224503721C>ACA350827327CUL3c.1308G>T (p.Leu436Phe)
c.1110G>T (p.Leu370Phe)
c.1236G>T (p.Leu412Phe)
n.604G>T
c.32G>T (p.Trp11Leu)
c.1326G>T (p.Leu442Phe)
c.1275G>T (p.Leu425Phe)
c.1161G>T (p.Leu387Phe)
c.1266G>T (p.Leu422Phe)
c.1116G>T (p.Leu372Phe)
c.1008G>T (p.Leu336Phe)
dbSNP gnomAD v4
2g.224503721C>GCA350827329CUL3c.1308G>C (p.Leu436Phe)
c.1110G>C (p.Leu370Phe)
c.1236G>C (p.Leu412Phe)
n.604G>C
c.32G>C (p.Trp11Ser)
c.1326G>C (p.Leu442Phe)
c.1275G>C (p.Leu425Phe)
c.1161G>C (p.Leu387Phe)
c.1266G>C (p.Leu422Phe)
c.1116G>C (p.Leu372Phe)
c.1008G>C (p.Leu336Phe)
dbSNP
2g.224503721C>TCA350827332CUL3c.1308G>A (p.Leu436=)
c.1110G>A (p.Leu370=)
c.1236G>A (p.Leu412=)
n.604G>A
c.32G>A (p.Trp11Ter)
c.1326G>A (p.Leu442=)
c.1275G>A (p.Leu425=)
c.1161G>A (p.Leu387=)
c.1266G>A (p.Leu422=)
c.1116G>A (p.Leu372=)
c.1008G>A (p.Leu336=)
dbSNP
2g.224503722A>CCA350827334CUL3c.1307T>G (p.Leu436Trp)
c.1109T>G (p.Leu370Trp)
c.1235T>G (p.Leu412Trp)
n.603T>G
c.31T>G (p.Trp11Gly)
c.1325T>G (p.Leu442Trp)
c.1274T>G (p.Leu425Trp)
c.1160T>G (p.Leu387Trp)
c.1265T>G (p.Leu422Trp)
c.1115T>G (p.Leu372Trp)
c.1007T>G (p.Leu336Trp)
2g.224503722A>GCA350827337CUL3c.1307T>C (p.Leu436Ser)
c.1109T>C (p.Leu370Ser)
c.1235T>C (p.Leu412Ser)
n.603T>C
c.31T>C (p.Trp11Arg)
c.1325T>C (p.Leu442Ser)
c.1274T>C (p.Leu425Ser)
c.1160T>C (p.Leu387Ser)
c.1265T>C (p.Leu422Ser)
c.1115T>C (p.Leu372Ser)
c.1007T>C (p.Leu336Ser)
dbSNP
2g.224503722A>TCA350827341CUL3c.1307T>A (p.Leu436Ter)
c.1109T>A (p.Leu370Ter)
c.1235T>A (p.Leu412Ter)
n.603T>A
c.31T>A (p.Trp11Arg)
c.1325T>A (p.Leu442Ter)
c.1274T>A (p.Leu425Ter)
c.1160T>A (p.Leu387Ter)
c.1265T>A (p.Leu422Ter)
c.1115T>A (p.Leu372Ter)
c.1007T>A (p.Leu336Ter)
dbSNP
2g.224503723A>CCA350827345CUL3c.1306T>G (p.Leu436Val)
c.1108T>G (p.Leu370Val)
c.1234T>G (p.Leu412Val)
n.602T>G
c.30T>G (p.Thr10=)
c.1324T>G (p.Leu442Val)
c.1273T>G (p.Leu425Val)
c.1159T>G (p.Leu387Val)
c.1264T>G (p.Leu422Val)
c.1114T>G (p.Leu372Val)
c.1006T>G (p.Leu336Val)
ClinVar gnomAD v4
2g.224503723A>GCA431492669CUL3c.1306T>C (p.Leu436=)
c.1108T>C (p.Leu370=)
c.1234T>C (p.Leu412=)
n.602T>C
c.30T>C (p.Thr10=)
c.1324T>C (p.Leu442=)
c.1273T>C (p.Leu425=)
c.1159T>C (p.Leu387=)
c.1264T>C (p.Leu422=)
c.1114T>C (p.Leu372=)
c.1006T>C (p.Leu336=)
gnomAD v4
2g.224503723A>TCA350827348CUL3c.1306T>A (p.Leu436Met)
c.1108T>A (p.Leu370Met)
c.1234T>A (p.Leu412Met)
n.602T>A
c.30T>A (p.Thr10=)
c.1324T>A (p.Leu442Met)
c.1273T>A (p.Leu425Met)
c.1159T>A (p.Leu387Met)
c.1264T>A (p.Leu422Met)
c.1114T>A (p.Leu372Met)
c.1006T>A (p.Leu336Met)
dbSNP
2g.224503724G>ACA350827351CUL3c.1305C>T (p.His435=)
c.1107C>T (p.His369=)
c.1233C>T (p.His411=)
n.601C>T
c.29C>T (p.Thr10Ile)
c.1323C>T (p.His441=)
c.1272C>T (p.His424=)
c.1158C>T (p.His386=)
c.1263C>T (p.His421=)
c.1113C>T (p.His371=)
c.1005C>T (p.His335=)
dbSNP gnomAD v3 gnomAD v4
2g.224503724G>CCA350827354CUL3c.1305C>G (p.His435Gln)
c.1107C>G (p.His369Gln)
c.1233C>G (p.His411Gln)
n.601C>G
c.29C>G (p.Thr10Ser)
c.1323C>G (p.His441Gln)
c.1272C>G (p.His424Gln)
c.1158C>G (p.His386Gln)
c.1263C>G (p.His421Gln)
c.1113C>G (p.His371Gln)
c.1005C>G (p.His335Gln)
dbSNP
2g.224503724G=CA1331555940CUL3c.1305C= (p.His435=)
c.1107C= (p.His369=)
c.1233C= (p.His411=)
n.601C=
c.29C= (p.Thr10=)
c.1323C= (p.His441=)
c.1272C= (p.His424=)
c.1158C= (p.His386=)
c.1263C= (p.His421=)
c.1113C= (p.His371=)
c.1005C= (p.His335=)
2g.224503724G>TCA350827357CUL3c.1305C>A (p.His435Gln)
c.1107C>A (p.His369Gln)
c.1233C>A (p.His411Gln)
n.601C>A
c.29C>A (p.Thr10Asn)
c.1323C>A (p.His441Gln)
c.1272C>A (p.His424Gln)
c.1158C>A (p.His386Gln)
c.1263C>A (p.His421Gln)
c.1113C>A (p.His371Gln)
c.1005C>A (p.His335Gln)
2g.224503725T>ACA350827361CUL3c.1304A>T (p.His435Leu)
c.1106A>T (p.His369Leu)
c.1232A>T (p.His411Leu)
n.600A>T
c.28A>T (p.Thr10Ser)
c.1322A>T (p.His441Leu)
c.1271A>T (p.His424Leu)
c.1157A>T (p.His386Leu)
c.1262A>T (p.His421Leu)
c.1112A>T (p.His371Leu)
c.1004A>T (p.His335Leu)
dbSNP
2g.224503725T>CCA350827364CUL3c.1304A>G (p.His435Arg)
c.1106A>G (p.His369Arg)
c.1232A>G (p.His411Arg)
n.600A>G
c.28A>G (p.Thr10Ala)
c.1322A>G (p.His441Arg)
c.1271A>G (p.His424Arg)
c.1157A>G (p.His386Arg)
c.1262A>G (p.His421Arg)
c.1112A>G (p.His371Arg)
c.1004A>G (p.His335Arg)
2g.224503725T>GCA350827366CUL3c.1304A>C (p.His435Pro)
c.1106A>C (p.His369Pro)
c.1232A>C (p.His411Pro)
n.600A>C
c.28A>C (p.Thr10Pro)
c.1322A>C (p.His441Pro)
c.1271A>C (p.His424Pro)
c.1157A>C (p.His386Pro)
c.1262A>C (p.His421Pro)
c.1112A>C (p.His371Pro)
c.1004A>C (p.His335Pro)
dbSNP
2g.224503726G>ACA350827370CUL3c.1303C>T (p.His435Tyr)
c.1105C>T (p.His369Tyr)
c.1231C>T (p.His411Tyr)
n.599C>T
c.27C>T (p.Asn9=)
c.1321C>T (p.His441Tyr)
c.1270C>T (p.His424Tyr)
c.1156C>T (p.His386Tyr)
c.1261C>T (p.His421Tyr)
c.1111C>T (p.His371Tyr)
c.1003C>T (p.His335Tyr)
dbSNP
2g.224503726G>CCA350827373CUL3c.1303C>G (p.His435Asp)
c.1105C>G (p.His369Asp)
c.1231C>G (p.His411Asp)
n.599C>G
c.27C>G (p.Asn9Lys)
c.1321C>G (p.His441Asp)
c.1270C>G (p.His424Asp)
c.1156C>G (p.His386Asp)
c.1261C>G (p.His421Asp)
c.1111C>G (p.His371Asp)
c.1003C>G (p.His335Asp)
dbSNP
2g.224503726G>TCA350827375CUL3c.1303C>A (p.His435Asn)
c.1105C>A (p.His369Asn)
c.1231C>A (p.His411Asn)
n.599C>A
c.27C>A (p.Asn9Lys)
c.1321C>A (p.His441Asn)
c.1270C>A (p.His424Asn)
c.1156C>A (p.His386Asn)
c.1261C>A (p.His421Asn)
c.1111C>A (p.His371Asn)
c.1003C>A (p.His335Asn)
2g.224503727T>ACA350827378CUL3c.1302A>T (p.Gln434His)
c.1104A>T (p.Gln368His)
c.1230A>T (p.Gln410His)
n.598A>T
c.26A>T (p.Asn9Ile)
c.1320A>T (p.Gln440His)
c.1269A>T (p.Gln423His)
c.1155A>T (p.Gln385His)
c.1260A>T (p.Gln420His)
c.1110A>T (p.Gln370His)
c.1002A>T (p.Gln334His)
dbSNP
2g.224503727T>CCA66534322CUL3c.1302A>G (p.Gln434=)
c.1104A>G (p.Gln368=)
c.1230A>G (p.Gln410=)
n.598A>G
c.26A>G (p.Asn9Ser)
c.1320A>G (p.Gln440=)
c.1269A>G (p.Gln423=)
c.1155A>G (p.Gln385=)
c.1260A>G (p.Gln420=)
c.1110A>G (p.Gln370=)
c.1002A>G (p.Gln334=)
dbSNP
2g.224503727T>GCA350827382CUL3c.1302A>C (p.Gln434His)
c.1104A>C (p.Gln368His)
c.1230A>C (p.Gln410His)
n.598A>C
c.26A>C (p.Asn9Thr)
c.1320A>C (p.Gln440His)
c.1269A>C (p.Gln423His)
c.1155A>C (p.Gln385His)
c.1260A>C (p.Gln420His)
c.1110A>C (p.Gln370His)
c.1002A>C (p.Gln334His)
2g.224503727T=CA1331555941CUL3c.1302A= (p.Gln434=)
c.1104A= (p.Gln368=)
c.1230A= (p.Gln410=)
n.598A=
c.26A= (p.Asn9=)
c.1320A= (p.Gln440=)
c.1269A= (p.Gln423=)
c.1155A= (p.Gln385=)
c.1260A= (p.Gln420=)
c.1110A= (p.Gln370=)
c.1002A= (p.Gln334=)
2g.224503728T>ACA350827386CUL3c.1301A>T (p.Gln434Leu)
c.1103A>T (p.Gln368Leu)
c.1229A>T (p.Gln410Leu)
n.597A>T
c.25A>T (p.Asn9Tyr)
c.1319A>T (p.Gln440Leu)
c.1268A>T (p.Gln423Leu)
c.1154A>T (p.Gln385Leu)
c.1259A>T (p.Gln420Leu)
c.1109A>T (p.Gln370Leu)
c.1001A>T (p.Gln334Leu)
dbSNP
2g.224503728T>CCA350827391CUL3c.1301A>G (p.Gln434Arg)
c.1103A>G (p.Gln368Arg)
c.1229A>G (p.Gln410Arg)
n.597A>G
c.25A>G (p.Asn9Asp)
c.1319A>G (p.Gln440Arg)
c.1268A>G (p.Gln423Arg)
c.1154A>G (p.Gln385Arg)
c.1259A>G (p.Gln420Arg)
c.1109A>G (p.Gln370Arg)
c.1001A>G (p.Gln334Arg)
2g.224503728T>GCA350827388CUL3c.1301A>C (p.Gln434Pro)
c.1103A>C (p.Gln368Pro)
c.1229A>C (p.Gln410Pro)
n.597A>C
c.25A>C (p.Asn9His)
c.1319A>C (p.Gln440Pro)
c.1268A>C (p.Gln423Pro)
c.1154A>C (p.Gln385Pro)
c.1259A>C (p.Gln420Pro)
c.1109A>C (p.Gln370Pro)
c.1001A>C (p.Gln334Pro)
2g.224503729G>ACA350827395CUL3c.1300C>T (p.Gln434Ter)
c.1102C>T (p.Gln368Ter)
c.1228C>T (p.Gln410Ter)
n.596C>T
c.24C>T (p.Asn8=)
c.1318C>T (p.Gln440Ter)
c.1267C>T (p.Gln423Ter)
c.1153C>T (p.Gln385Ter)
c.1258C>T (p.Gln420Ter)
c.1108C>T (p.Gln370Ter)
c.1000C>T (p.Gln334Ter)
2g.224503729G>CCA350827397CUL3c.1300C>G (p.Gln434Glu)
c.1102C>G (p.Gln368Glu)
c.1228C>G (p.Gln410Glu)
n.596C>G
c.24C>G (p.Asn8Lys)
c.1318C>G (p.Gln440Glu)
c.1267C>G (p.Gln423Glu)
c.1153C>G (p.Gln385Glu)
c.1258C>G (p.Gln420Glu)
c.1108C>G (p.Gln370Glu)
c.1000C>G (p.Gln334Glu)
2g.224503729G>TCA350827400CUL3c.1300C>A (p.Gln434Lys)
c.1102C>A (p.Gln368Lys)
c.1228C>A (p.Gln410Lys)
n.596C>A
c.24C>A (p.Asn8Lys)
c.1318C>A (p.Gln440Lys)
c.1267C>A (p.Gln423Lys)
c.1153C>A (p.Gln385Lys)
c.1258C>A (p.Gln420Lys)
c.1108C>A (p.Gln370Lys)
c.1000C>A (p.Gln334Lys)
2g.224503730T>ACA350827402CUL3c.1299A>T (p.Lys433Asn)
c.1101A>T (p.Lys367Asn)
c.1227A>T (p.Lys409Asn)
n.595A>T
c.23A>T (p.Asn8Ile)
c.1317A>T (p.Lys439Asn)
c.1266A>T (p.Lys422Asn)
c.1152A>T (p.Lys384Asn)
c.1257A>T (p.Lys419Asn)
c.1107A>T (p.Lys369Asn)
c.999A>T (p.Lys333Asn)
dbSNP
2g.224503730T>CCA350827404CUL3c.1299A>G (p.Lys433=)
c.1101A>G (p.Lys367=)
c.1227A>G (p.Lys409=)
n.595A>G
c.23A>G (p.Asn8Ser)
c.1317A>G (p.Lys439=)
c.1266A>G (p.Lys422=)
c.1152A>G (p.Lys384=)
c.1257A>G (p.Lys419=)
c.1107A>G (p.Lys369=)
c.999A>G (p.Lys333=)
gnomAD v4
2g.224503730T>GCA350827405CUL3c.1299A>C (p.Lys433Asn)
c.1101A>C (p.Lys367Asn)
c.1227A>C (p.Lys409Asn)
n.595A>C
c.23A>C (p.Asn8Thr)
c.1317A>C (p.Lys439Asn)
c.1266A>C (p.Lys422Asn)
c.1152A>C (p.Lys384Asn)
c.1257A>C (p.Lys419Asn)
c.1107A>C (p.Lys369Asn)
c.999A>C (p.Lys333Asn)
dbSNP
2g.224503731T>ACA350827409CUL3c.1298A>T (p.Lys433Ile)
c.1100A>T (p.Lys367Ile)
c.1226A>T (p.Lys409Ile)
n.594A>T
c.22A>T (p.Asn8Tyr)
c.1316A>T (p.Lys439Ile)
c.1265A>T (p.Lys422Ile)
c.1151A>T (p.Lys384Ile)
c.1256A>T (p.Lys419Ile)
c.1106A>T (p.Lys369Ile)
c.998A>T (p.Lys333Ile)
dbSNP
2g.224503731T>CCA350827410CUL3c.1298A>G (p.Lys433Arg)
c.1100A>G (p.Lys367Arg)
c.1226A>G (p.Lys409Arg)
n.594A>G
c.22A>G (p.Asn8Asp)
c.1316A>G (p.Lys439Arg)
c.1265A>G (p.Lys422Arg)
c.1151A>G (p.Lys384Arg)
c.1256A>G (p.Lys419Arg)
c.1106A>G (p.Lys369Arg)
c.998A>G (p.Lys333Arg)
2g.224503731T>GCA350827411CUL3c.1298A>C (p.Lys433Thr)
c.1100A>C (p.Lys367Thr)
c.1226A>C (p.Lys409Thr)
n.594A>C
c.22A>C (p.Asn8His)
c.1316A>C (p.Lys439Thr)
c.1265A>C (p.Lys422Thr)
c.1151A>C (p.Lys384Thr)
c.1256A>C (p.Lys419Thr)
c.1106A>C (p.Lys369Thr)
c.998A>C (p.Lys333Thr)
dbSNP
2g.224503732T>ACA350827412CUL3c.1297A>T (p.Lys433Ter)
c.1099A>T (p.Lys367Ter)
c.1225A>T (p.Lys409Ter)
n.593A>T
c.21A>T (p.Ile7=)
c.1315A>T (p.Lys439Ter)
c.1264A>T (p.Lys422Ter)
c.1150A>T (p.Lys384Ter)
c.1255A>T (p.Lys419Ter)
c.1105A>T (p.Lys369Ter)
c.997A>T (p.Lys333Ter)
dbSNP
2g.224503732T>CCA350827413CUL3c.1297A>G (p.Lys433Glu)
c.1099A>G (p.Lys367Glu)
c.1225A>G (p.Lys409Glu)
n.593A>G
c.21A>G (p.Ile7Met)
c.1315A>G (p.Lys439Glu)
c.1264A>G (p.Lys422Glu)
c.1150A>G (p.Lys384Glu)
c.1255A>G (p.Lys419Glu)
c.1105A>G (p.Lys369Glu)
c.997A>G (p.Lys333Glu)
2g.224503732T>GCA350827415CUL3c.1297A>C (p.Lys433Gln)
c.1099A>C (p.Lys367Gln)
c.1225A>C (p.Lys409Gln)
n.593A>C
c.21A>C (p.Ile7=)
c.1315A>C (p.Lys439Gln)
c.1264A>C (p.Lys422Gln)
c.1150A>C (p.Lys384Gln)
c.1255A>C (p.Lys419Gln)
c.1105A>C (p.Lys369Gln)
c.997A>C (p.Lys333Gln)
2g.224503733A>CCA350827420CUL3c.1296T>G (p.Tyr432Ter)
c.1098T>G (p.Tyr366Ter)
c.1224T>G (p.Tyr408Ter)
n.592T>G
c.20T>G (p.Ile7Arg)
c.1314T>G (p.Tyr438Ter)
c.1263T>G (p.Tyr421Ter)
c.1149T>G (p.Tyr383Ter)
c.1254T>G (p.Tyr418Ter)
c.1104T>G (p.Tyr368Ter)
c.996T>G (p.Tyr332Ter)
2g.224503733A>GCA350827417CUL3c.1296T>C (p.Tyr432=)
c.1098T>C (p.Tyr366=)
c.1224T>C (p.Tyr408=)
n.592T>C
c.20T>C (p.Ile7Thr)
c.1314T>C (p.Tyr438=)
c.1263T>C (p.Tyr421=)
c.1149T>C (p.Tyr383=)
c.1254T>C (p.Tyr418=)
c.1104T>C (p.Tyr368=)
c.996T>C (p.Tyr332=)
2g.224503733A>TCA350827418CUL3c.1296T>A (p.Tyr432Ter)
c.1098T>A (p.Tyr366Ter)
c.1224T>A (p.Tyr408Ter)
n.592T>A
c.20T>A (p.Ile7Lys)
c.1314T>A (p.Tyr438Ter)
c.1263T>A (p.Tyr421Ter)
c.1149T>A (p.Tyr383Ter)
c.1254T>A (p.Tyr418Ter)
c.1104T>A (p.Tyr368Ter)
c.996T>A (p.Tyr332Ter)
dbSNP
2g.224503734T>ACA350827421CUL3c.1295A>T (p.Tyr432Phe)
c.1097A>T (p.Tyr366Phe)
c.1223A>T (p.Tyr408Phe)
n.591A>T
c.19A>T (p.Ile7Leu)
c.1313A>T (p.Tyr438Phe)
c.1262A>T (p.Tyr421Phe)
c.1148A>T (p.Tyr383Phe)
c.1253A>T (p.Tyr418Phe)
c.1103A>T (p.Tyr368Phe)
c.995A>T (p.Tyr332Phe)
2g.224503734T>CCA350827423CUL3c.1295A>G (p.Tyr432Cys)
c.1097A>G (p.Tyr366Cys)
c.1223A>G (p.Tyr408Cys)
n.591A>G
c.19A>G (p.Ile7Val)
c.1313A>G (p.Tyr438Cys)
c.1262A>G (p.Tyr421Cys)
c.1148A>G (p.Tyr383Cys)
c.1253A>G (p.Tyr418Cys)
c.1103A>G (p.Tyr368Cys)
c.995A>G (p.Tyr332Cys)
2g.224503734T>GCA350827425CUL3c.1295A>C (p.Tyr432Ser)
c.1097A>C (p.Tyr366Ser)
c.1223A>C (p.Tyr408Ser)
n.591A>C
c.19A>C (p.Ile7Leu)
c.1313A>C (p.Tyr438Ser)
c.1262A>C (p.Tyr421Ser)
c.1148A>C (p.Tyr383Ser)
c.1253A>C (p.Tyr418Ser)
c.1103A>C (p.Tyr368Ser)
c.995A>C (p.Tyr332Ser)
2g.224503735A>CCA350827427CUL3c.1294T>G (p.Tyr432Asp)
c.1096T>G (p.Tyr366Asp)
c.1222T>G (p.Tyr408Asp)
n.590T>G
c.18T>G (p.Ile6Met)
c.1312T>G (p.Tyr438Asp)
c.1261T>G (p.Tyr421Asp)
c.1147T>G (p.Tyr383Asp)
c.1252T>G (p.Tyr418Asp)
c.1102T>G (p.Tyr368Asp)
c.994T>G (p.Tyr332Asp)
ClinVar dbSNP
2g.224503735A>GCA350827428CUL3c.1294T>C (p.Tyr432His)
c.1096T>C (p.Tyr366His)
c.1222T>C (p.Tyr408His)
n.590T>C
c.18T>C (p.Ile6=)
c.1312T>C (p.Tyr438His)
c.1261T>C (p.Tyr421His)
c.1147T>C (p.Tyr383His)
c.1252T>C (p.Tyr418His)
c.1102T>C (p.Tyr368His)
c.994T>C (p.Tyr332His)
2g.224503735A>TCA350827431CUL3c.1294T>A (p.Tyr432Asn)
c.1096T>A (p.Tyr366Asn)
c.1222T>A (p.Tyr408Asn)
n.590T>A
c.18T>A (p.Ile6=)
c.1312T>A (p.Tyr438Asn)
c.1261T>A (p.Tyr421Asn)
c.1147T>A (p.Tyr383Asn)
c.1252T>A (p.Tyr418Asn)
c.1102T>A (p.Tyr368Asn)
c.994T>A (p.Tyr332Asn)
dbSNP
2g.224503736delCA2701738708CUL3c.1294del (p.Tyr432IlefsTer23)
c.1096del (p.Tyr366IlefsTer23)
c.1222del (p.Tyr408IlefsTer23)
n.590del
c.18del (p.Ile7Ter)
c.1312del (p.Tyr438IlefsTer23)
c.1261del (p.Tyr421IlefsTer23)
c.1147del (p.Tyr383IlefsTer23)
c.1252del (p.Tyr418IlefsTer23)
c.1102del (p.Tyr368IlefsTer23)
c.994del (p.Tyr332IlefsTer23)
dbSNP
2g.224503736A=CA1331555942CUL3c.1293T= (p.Tyr431=)
c.1095T= (p.Tyr365=)
c.1221T= (p.Tyr407=)
n.589T=
c.17T= (p.Ile6=)
c.1311T= (p.Tyr437=)
c.1260T= (p.Tyr420=)
c.1146T= (p.Tyr382=)
c.1251T= (p.Tyr417=)
c.1101T= (p.Tyr367=)
c.993T= (p.Tyr331=)
2g.224503736A>CCA350827433CUL3c.1293T>G (p.Tyr431Ter)
c.1095T>G (p.Tyr365Ter)
c.1221T>G (p.Tyr407Ter)
n.589T>G
c.17T>G (p.Ile6Ser)
c.1311T>G (p.Tyr437Ter)
c.1260T>G (p.Tyr420Ter)
c.1146T>G (p.Tyr382Ter)
c.1251T>G (p.Tyr417Ter)
c.1101T>G (p.Tyr367Ter)
c.993T>G (p.Tyr331Ter)
2g.224503736A>GCA2140019CUL3c.1293T>C (p.Tyr431=)
c.1095T>C (p.Tyr365=)
c.1221T>C (p.Tyr407=)
n.589T>C
c.17T>C (p.Ile6Thr)
c.1311T>C (p.Tyr437=)
c.1260T>C (p.Tyr420=)
c.1146T>C (p.Tyr382=)
c.1251T>C (p.Tyr417=)
c.1101T>C (p.Tyr367=)
c.993T>C (p.Tyr331=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.224503736A>TCA350827435CUL3c.1293T>A (p.Tyr431Ter)
c.1095T>A (p.Tyr365Ter)
c.1221T>A (p.Tyr407Ter)
n.589T>A
c.17T>A (p.Ile6Asn)
c.1311T>A (p.Tyr437Ter)
c.1260T>A (p.Tyr420Ter)
c.1146T>A (p.Tyr382Ter)
c.1251T>A (p.Tyr417Ter)
c.1101T>A (p.Tyr367Ter)
c.993T>A (p.Tyr331Ter)
dbSNP
2g.224503737T>ACA350827437CUL3c.1292A>T (p.Tyr431Phe)
c.1094A>T (p.Tyr365Phe)
c.1220A>T (p.Tyr407Phe)
n.588A>T
c.16A>T (p.Ile6Phe)
c.1310A>T (p.Tyr437Phe)
c.1259A>T (p.Tyr420Phe)
c.1145A>T (p.Tyr382Phe)
c.1250A>T (p.Tyr417Phe)
c.1100A>T (p.Tyr367Phe)
c.992A>T (p.Tyr331Phe)
dbSNP
2g.224503737T>CCA350827439CUL3c.1292A>G (p.Tyr431Cys)
c.1094A>G (p.Tyr365Cys)
c.1220A>G (p.Tyr407Cys)
n.588A>G
c.16A>G (p.Ile6Val)
c.1310A>G (p.Tyr437Cys)
c.1259A>G (p.Tyr420Cys)
c.1145A>G (p.Tyr382Cys)
c.1250A>G (p.Tyr417Cys)
c.1100A>G (p.Tyr367Cys)
c.992A>G (p.Tyr331Cys)
2g.224503737T>GCA350827441CUL3c.1292A>C (p.Tyr431Ser)
c.1094A>C (p.Tyr365Ser)
c.1220A>C (p.Tyr407Ser)
n.588A>C
c.16A>C (p.Ile6Leu)
c.1310A>C (p.Tyr437Ser)
c.1259A>C (p.Tyr420Ser)
c.1145A>C (p.Tyr382Ser)
c.1250A>C (p.Tyr417Ser)
c.1100A>C (p.Tyr367Ser)
c.992A>C (p.Tyr331Ser)
2g.224503738A>CCA350827446CUL3c.1291T>G (p.Tyr431Asp)
c.1093T>G (p.Tyr365Asp)
c.1219T>G (p.Tyr407Asp)
n.587T>G
c.15T>G (p.Val5=)
c.1309T>G (p.Tyr437Asp)
c.1258T>G (p.Tyr420Asp)
c.1144T>G (p.Tyr382Asp)
c.1249T>G (p.Tyr417Asp)
c.1099T>G (p.Tyr367Asp)
c.991T>G (p.Tyr331Asp)
2g.224503738A>GCA350827447CUL3c.1291T>C (p.Tyr431His)
c.1093T>C (p.Tyr365His)
c.1219T>C (p.Tyr407His)
n.587T>C
c.15T>C (p.Val5=)
c.1309T>C (p.Tyr437His)
c.1258T>C (p.Tyr420His)
c.1144T>C (p.Tyr382His)
c.1249T>C (p.Tyr417His)
c.1099T>C (p.Tyr367His)
c.991T>C (p.Tyr331His)
2g.224503738A>TCA350827444CUL3c.1291T>A (p.Tyr431Asn)
c.1093T>A (p.Tyr365Asn)
c.1219T>A (p.Tyr407Asn)
n.587T>A
c.15T>A (p.Val5=)
c.1309T>A (p.Tyr437Asn)
c.1258T>A (p.Tyr420Asn)
c.1144T>A (p.Tyr382Asn)
c.1249T>A (p.Tyr417Asn)
c.1099T>A (p.Tyr367Asn)
c.991T>A (p.Tyr331Asn)
dbSNP
2g.224503739A=CA1331555943CUL3c.1290T= (p.Arg430=)
c.1092T= (p.Arg364=)
c.1218T= (p.Arg406=)
n.586T=
c.14T= (p.Val5=)
c.1308T= (p.Arg436=)
c.1257T= (p.Arg419=)
c.1143T= (p.Arg381=)
c.1248T= (p.Arg416=)
c.1098T= (p.Arg366=)
c.990T= (p.Arg330=)
2g.224503739A>CCA350827449CUL3c.1290T>G (p.Arg430=)
c.1092T>G (p.Arg364=)
c.1218T>G (p.Arg406=)
n.586T>G
c.14T>G (p.Val5Gly)
c.1308T>G (p.Arg436=)
c.1257T>G (p.Arg419=)
c.1143T>G (p.Arg381=)
c.1248T>G (p.Arg416=)
c.1098T>G (p.Arg366=)
c.990T>G (p.Arg330=)
dbSNP gnomAD v2
2g.224503739A>GCA350827452CUL3c.1290T>C (p.Arg430=)
c.1092T>C (p.Arg364=)
c.1218T>C (p.Arg406=)
n.586T>C
c.14T>C (p.Val5Ala)
c.1308T>C (p.Arg436=)
c.1257T>C (p.Arg419=)
c.1143T>C (p.Arg381=)
c.1248T>C (p.Arg416=)
c.1098T>C (p.Arg366=)
c.990T>C (p.Arg330=)
dbSNP gnomAD v2 gnomAD v4
2g.224503739A>TCA350827450CUL3c.1290T>A (p.Arg430=)
c.1092T>A (p.Arg364=)
c.1218T>A (p.Arg406=)
n.586T>A
c.14T>A (p.Val5Asp)
c.1308T>A (p.Arg436=)
c.1257T>A (p.Arg419=)
c.1143T>A (p.Arg381=)
c.1248T>A (p.Arg416=)
c.1098T>A (p.Arg366=)
c.990T>A (p.Arg330=)
dbSNP
2g.224503740C>ACA350827454CUL3c.1289G>T (p.Arg430Leu)
c.1091G>T (p.Arg364Leu)
c.1217G>T (p.Arg406Leu)
n.585G>T
c.13G>T (p.Val5Phe)
c.1307G>T (p.Arg436Leu)
c.1256G>T (p.Arg419Leu)
c.1142G>T (p.Arg381Leu)
c.1247G>T (p.Arg416Leu)
c.1097G>T (p.Arg366Leu)
c.989G>T (p.Arg330Leu)
dbSNP
2g.224503740C>GCA350827456CUL3c.1289G>C (p.Arg430Pro)
c.1091G>C (p.Arg364Pro)
c.1217G>C (p.Arg406Pro)
n.585G>C
c.13G>C (p.Val5Leu)
c.1307G>C (p.Arg436Pro)
c.1256G>C (p.Arg419Pro)
c.1142G>C (p.Arg381Pro)
c.1247G>C (p.Arg416Pro)
c.1097G>C (p.Arg366Pro)
c.989G>C (p.Arg330Pro)
dbSNP
2g.224503740C>TCA350827457CUL3c.1289G>A (p.Arg430His)
c.1091G>A (p.Arg364His)
c.1217G>A (p.Arg406His)
n.585G>A
c.13G>A (p.Val5Ile)
c.1307G>A (p.Arg436His)
c.1256G>A (p.Arg419His)
c.1142G>A (p.Arg381His)
c.1247G>A (p.Arg416His)
c.1097G>A (p.Arg366His)
c.989G>A (p.Arg330His)
ClinVar dbSNP gnomAD v4
2g.224503741G>ACA350827459CUL3c.1288C>T (p.Arg430Cys)
c.1090C>T (p.Arg364Cys)
c.1216C>T (p.Arg406Cys)
n.584C>T
c.12C>T (p.Asn4=)
c.1306C>T (p.Arg436Cys)
c.1255C>T (p.Arg419Cys)
c.1141C>T (p.Arg381Cys)
c.1246C>T (p.Arg416Cys)
c.1096C>T (p.Arg366Cys)
c.988C>T (p.Arg330Cys)
dbSNP gnomAD v2 COSMIC
2g.224503741G>CCA350827461CUL3c.1288C>G (p.Arg430Gly)
c.1090C>G (p.Arg364Gly)
c.1216C>G (p.Arg406Gly)
n.584C>G
c.12C>G (p.Asn4Lys)
c.1306C>G (p.Arg436Gly)
c.1255C>G (p.Arg419Gly)
c.1141C>G (p.Arg381Gly)
c.1246C>G (p.Arg416Gly)
c.1096C>G (p.Arg366Gly)
c.988C>G (p.Arg330Gly)
dbSNP
2g.224503741G=CA1331555944CUL3c.1288C= (p.Arg430=)
c.1090C= (p.Arg364=)
c.1216C= (p.Arg406=)
n.584C=
c.12C= (p.Asn4=)
c.1306C= (p.Arg436=)
c.1255C= (p.Arg419=)
c.1141C= (p.Arg381=)
c.1246C= (p.Arg416=)
c.1096C= (p.Arg366=)
c.988C= (p.Arg330=)
2g.224503741G>TCA350827463CUL3c.1288C>A (p.Arg430Ser)
c.1090C>A (p.Arg364Ser)
c.1216C>A (p.Arg406Ser)
n.584C>A
c.12C>A (p.Asn4Lys)
c.1306C>A (p.Arg436Ser)
c.1255C>A (p.Arg419Ser)
c.1141C>A (p.Arg381Ser)
c.1246C>A (p.Arg416Ser)
c.1096C>A (p.Arg366Ser)
c.988C>A (p.Arg330Ser)
dbSNP gnomAD v4
2g.224503742T>ACA350827469CUL3c.1287A>T (p.Glu429Asp)
c.1089A>T (p.Glu363Asp)
c.1215A>T (p.Glu405Asp)
n.583A>T
c.11A>T (p.Asn4Ile)
c.1305A>T (p.Glu435Asp)
c.1254A>T (p.Glu418Asp)
c.1140A>T (p.Glu380Asp)
c.1245A>T (p.Glu415Asp)
c.1095A>T (p.Glu365Asp)
c.987A>T (p.Glu329Asp)
dbSNP
2g.224503742T>CCA350827467CUL3c.1287A>G (p.Glu429=)
c.1089A>G (p.Glu363=)
c.1215A>G (p.Glu405=)
n.583A>G
c.11A>G (p.Asn4Ser)
c.1305A>G (p.Glu435=)
c.1254A>G (p.Glu418=)
c.1140A>G (p.Glu380=)
c.1245A>G (p.Glu415=)
c.1095A>G (p.Glu365=)
c.987A>G (p.Glu329=)
2g.224503742T>GCA350827465CUL3c.1287A>C (p.Glu429Asp)
c.1089A>C (p.Glu363Asp)
c.1215A>C (p.Glu405Asp)
n.583A>C
c.11A>C (p.Asn4Thr)
c.1305A>C (p.Glu435Asp)
c.1254A>C (p.Glu418Asp)
c.1140A>C (p.Glu380Asp)
c.1245A>C (p.Glu415Asp)
c.1095A>C (p.Glu365Asp)
c.987A>C (p.Glu329Asp)
2g.224503743T>ACA350827471CUL3c.1286A>T (p.Glu429Val)
c.1088A>T (p.Glu363Val)
c.1214A>T (p.Glu405Val)
n.582A>T
c.10A>T (p.Asn4Tyr)
c.1304A>T (p.Glu435Val)
c.1253A>T (p.Glu418Val)
c.1139A>T (p.Glu380Val)
c.1244A>T (p.Glu415Val)
c.1094A>T (p.Glu365Val)
c.986A>T (p.Glu329Val)
dbSNP
2g.224503743T>CCA350827473CUL3c.1286A>G (p.Glu429Gly)
c.1088A>G (p.Glu363Gly)
c.1214A>G (p.Glu405Gly)
n.582A>G
c.10A>G (p.Asn4Asp)
c.1304A>G (p.Glu435Gly)
c.1253A>G (p.Glu418Gly)
c.1139A>G (p.Glu380Gly)
c.1244A>G (p.Glu415Gly)
c.1094A>G (p.Glu365Gly)
c.986A>G (p.Glu329Gly)
gnomAD v4
2g.224503743T>GCA350827474CUL3c.1286A>C (p.Glu429Ala)
c.1088A>C (p.Glu363Ala)
c.1214A>C (p.Glu405Ala)
n.582A>C
c.10A>C (p.Asn4His)
c.1304A>C (p.Glu435Ala)
c.1253A>C (p.Glu418Ala)
c.1139A>C (p.Glu380Ala)
c.1244A>C (p.Glu415Ala)
c.1094A>C (p.Glu365Ala)
c.986A>C (p.Glu329Ala)
2g.224503744C>ACA350827475CUL3c.1285G>T (p.Glu429Ter)
c.1087G>T (p.Glu363Ter)
c.1213G>T (p.Glu405Ter)
n.581G>T
c.9G>T (p.Leu3Phe)
c.1303G>T (p.Glu435Ter)
c.1252G>T (p.Glu418Ter)
c.1138G>T (p.Glu380Ter)
c.1243G>T (p.Glu415Ter)
c.1093G>T (p.Glu365Ter)
c.985G>T (p.Glu329Ter)
dbSNP gnomAD v4
2g.224503744C=CA1331555945CUL3c.1285G= (p.Glu429=)
c.1087G= (p.Glu363=)
c.1213G= (p.Glu405=)
n.581G=
c.9G= (p.Leu3=)
c.1303G= (p.Glu435=)
c.1252G= (p.Glu418=)
c.1138G= (p.Glu380=)
c.1243G= (p.Glu415=)
c.1093G= (p.Glu365=)
c.985G= (p.Glu329=)
2g.224503744C>GCA350827476CUL3c.1285G>C (p.Glu429Gln)
c.1087G>C (p.Glu363Gln)
c.1213G>C (p.Glu405Gln)
n.581G>C
c.9G>C (p.Leu3Phe)
c.1303G>C (p.Glu435Gln)
c.1252G>C (p.Glu418Gln)
c.1138G>C (p.Glu380Gln)
c.1243G>C (p.Glu415Gln)
c.1093G>C (p.Glu365Gln)
c.985G>C (p.Glu329Gln)
dbSNP
2g.224503744C>TCA350827477CUL3c.1285G>A (p.Glu429Lys)
c.1087G>A (p.Glu363Lys)
c.1213G>A (p.Glu405Lys)
n.581G>A
c.9G>A (p.Leu3=)
c.1303G>A (p.Glu435Lys)
c.1252G>A (p.Glu418Lys)
c.1138G>A (p.Glu380Lys)
c.1243G>A (p.Glu415Lys)
c.1093G>A (p.Glu365Lys)
c.985G>A (p.Glu329Lys)
COSMIC
2g.224503745A=CA1331555946CUL3c.1284T= (p.Phe428=)
c.1086T= (p.Phe362=)
c.1212T= (p.Phe404=)
n.580T=
c.8T= (p.Leu3=)
c.1302T= (p.Phe434=)
c.1251T= (p.Phe417=)
c.1137T= (p.Phe379=)
c.1242T= (p.Phe414=)
c.1092T= (p.Phe364=)
c.984T= (p.Phe328=)
2g.224503745A>CCA350827478CUL3c.1284T>G (p.Phe428Leu)
c.1086T>G (p.Phe362Leu)
c.1212T>G (p.Phe404Leu)
n.580T>G
c.8T>G (p.Leu3Trp)
c.1302T>G (p.Phe434Leu)
c.1251T>G (p.Phe417Leu)
c.1137T>G (p.Phe379Leu)
c.1242T>G (p.Phe414Leu)
c.1092T>G (p.Phe364Leu)
c.984T>G (p.Phe328Leu)
2g.224503745A>GCA350827481CUL3c.1284T>C (p.Phe428=)
c.1086T>C (p.Phe362=)
c.1212T>C (p.Phe404=)
n.580T>C
c.8T>C (p.Leu3Ser)
c.1302T>C (p.Phe434=)
c.1251T>C (p.Phe417=)
c.1137T>C (p.Phe379=)
c.1242T>C (p.Phe414=)
c.1092T>C (p.Phe364=)
c.984T>C (p.Phe328=)
dbSNP gnomAD v4
2g.224503745A>TCA350827480CUL3c.1284T>A (p.Phe428Leu)
c.1086T>A (p.Phe362Leu)
c.1212T>A (p.Phe404Leu)
n.580T>A
c.8T>A (p.Leu3Ter)
c.1302T>A (p.Phe434Leu)
c.1251T>A (p.Phe417Leu)
c.1137T>A (p.Phe379Leu)
c.1242T>A (p.Phe414Leu)
c.1092T>A (p.Phe364Leu)
c.984T>A (p.Phe328Leu)
dbSNP gnomAD v2 gnomAD v4
2g.224503746A>CCA350827483CUL3c.1283T>G (p.Phe428Cys)
c.1085T>G (p.Phe362Cys)
c.1211T>G (p.Phe404Cys)
n.579T>G
c.7T>G (p.Leu3Val)
c.1301T>G (p.Phe434Cys)
c.1250T>G (p.Phe417Cys)
c.1136T>G (p.Phe379Cys)
c.1241T>G (p.Phe414Cys)
c.1091T>G (p.Phe364Cys)
c.983T>G (p.Phe328Cys)
2g.224503746A>GCA350827484CUL3c.1283T>C (p.Phe428Ser)
c.1085T>C (p.Phe362Ser)
c.1211T>C (p.Phe404Ser)
n.579T>C
c.7T>C (p.Leu3=)
c.1301T>C (p.Phe434Ser)
c.1250T>C (p.Phe417Ser)
c.1136T>C (p.Phe379Ser)
c.1241T>C (p.Phe414Ser)
c.1091T>C (p.Phe364Ser)
c.983T>C (p.Phe328Ser)
dbSNP
2g.224503746A>TCA350827486CUL3c.1283T>A (p.Phe428Tyr)
c.1085T>A (p.Phe362Tyr)
c.1211T>A (p.Phe404Tyr)
n.579T>A
c.7T>A (p.Leu3Met)
c.1301T>A (p.Phe434Tyr)
c.1250T>A (p.Phe417Tyr)
c.1136T>A (p.Phe379Tyr)
c.1241T>A (p.Phe414Tyr)
c.1091T>A (p.Phe364Tyr)
c.983T>A (p.Phe328Tyr)
dbSNP
2g.224503747A>CCA350827488CUL3c.1282T>G (p.Phe428Val)
c.1084T>G (p.Phe362Val)
c.1210T>G (p.Phe404Val)
n.578T>G
c.6T>G (p.Tyr2Ter)
c.1300T>G (p.Phe434Val)
c.1249T>G (p.Phe417Val)
c.1135T>G (p.Phe379Val)
c.1240T>G (p.Phe414Val)
c.1090T>G (p.Phe364Val)
c.982T>G (p.Phe328Val)
2g.224503747A>GCA350827489CUL3c.1282T>C (p.Phe428Leu)
c.1084T>C (p.Phe362Leu)
c.1210T>C (p.Phe404Leu)
n.578T>C
c.6T>C (p.Tyr2=)
c.1300T>C (p.Phe434Leu)
c.1249T>C (p.Phe417Leu)
c.1135T>C (p.Phe379Leu)
c.1240T>C (p.Phe414Leu)
c.1090T>C (p.Phe364Leu)
c.982T>C (p.Phe328Leu)
2g.224503747A>TCA350827490CUL3c.1282T>A (p.Phe428Ile)
c.1084T>A (p.Phe362Ile)
c.1210T>A (p.Phe404Ile)
n.578T>A
c.6T>A (p.Tyr2Ter)
c.1300T>A (p.Phe434Ile)
c.1249T>A (p.Phe417Ile)
c.1135T>A (p.Phe379Ile)
c.1240T>A (p.Phe414Ile)
c.1090T>A (p.Phe364Ile)
c.982T>A (p.Phe328Ile)
dbSNP
2g.224503748T>ACA350827492CUL3c.1281A>T (p.Val427=)
c.1083A>T (p.Val361=)
c.1209A>T (p.Val403=)
n.577A>T
c.5A>T (p.Tyr2Phe)
c.1299A>T (p.Val433=)
c.1248A>T (p.Val416=)
c.1134A>T (p.Val378=)
c.1239A>T (p.Val413=)
c.1089A>T (p.Val363=)
c.981A>T (p.Val327=)
dbSNP
2g.224503748T>CCA350827494CUL3c.1281A>G (p.Val427=)
c.1083A>G (p.Val361=)
c.1209A>G (p.Val403=)
n.577A>G
c.5A>G (p.Tyr2Cys)
c.1299A>G (p.Val433=)
c.1248A>G (p.Val416=)
c.1134A>G (p.Val378=)
c.1239A>G (p.Val413=)
c.1089A>G (p.Val363=)
c.981A>G (p.Val327=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.224503748T>GCA350827496CUL3c.1281A>C (p.Val427=)
c.1083A>C (p.Val361=)
c.1209A>C (p.Val403=)
n.577A>C
c.5A>C (p.Tyr2Ser)
c.1299A>C (p.Val433=)
c.1248A>C (p.Val416=)
c.1134A>C (p.Val378=)
c.1239A>C (p.Val413=)
c.1089A>C (p.Val363=)
c.981A>C (p.Val327=)
2g.224503748T=CA1331555947CUL3c.1281A= (p.Val427=)
c.1083A= (p.Val361=)
c.1209A= (p.Val403=)
n.577A=
c.5A= (p.Tyr2=)
c.1299A= (p.Val433=)
c.1248A= (p.Val416=)
c.1134A= (p.Val378=)
c.1239A= (p.Val413=)
c.1089A= (p.Val363=)
c.981A= (p.Val327=)
2g.224503749A>CCA350827498CUL3c.1280T>G (p.Val427Gly)
c.1082T>G (p.Val361Gly)
c.1208T>G (p.Val403Gly)
n.576T>G
c.4T>G (p.Tyr2Asp)
c.1298T>G (p.Val433Gly)
c.1247T>G (p.Val416Gly)
c.1133T>G (p.Val378Gly)
c.1238T>G (p.Val413Gly)
c.1088T>G (p.Val363Gly)
c.980T>G (p.Val327Gly)
dbSNP
2g.224503749A>GCA350827499CUL3c.1280T>C (p.Val427Ala)
c.1082T>C (p.Val361Ala)
c.1208T>C (p.Val403Ala)
n.576T>C
c.4T>C (p.Tyr2His)
c.1298T>C (p.Val433Ala)
c.1247T>C (p.Val416Ala)
c.1133T>C (p.Val378Ala)
c.1238T>C (p.Val413Ala)
c.1088T>C (p.Val363Ala)
c.980T>C (p.Val327Ala)
2g.224503749A>TCA350827501CUL3c.1280T>A (p.Val427Glu)
c.1082T>A (p.Val361Glu)
c.1208T>A (p.Val403Glu)
n.576T>A
c.4T>A (p.Tyr2Asn)
c.1298T>A (p.Val433Glu)
c.1247T>A (p.Val416Glu)
c.1133T>A (p.Val378Glu)
c.1238T>A (p.Val413Glu)
c.1088T>A (p.Val363Glu)
c.980T>A (p.Val327Glu)
dbSNP
2g.224503750C>ACA350827504CUL3c.1279G>T (p.Val427Leu)
c.1081G>T (p.Val361Leu)
c.1207G>T (p.Val403Leu)
n.575G>T
c.3G>T (p.Met1Ile)
c.1297G>T (p.Val433Leu)
c.1246G>T (p.Val416Leu)
c.1132G>T (p.Val378Leu)
c.1237G>T (p.Val413Leu)
c.1087G>T (p.Val363Leu)
c.979G>T (p.Val327Leu)
2g.224503750C>GCA350827506CUL3c.1279G>C (p.Val427Leu)
c.1081G>C (p.Val361Leu)
c.1207G>C (p.Val403Leu)
n.575G>C
c.3G>C (p.Met1Ile)
c.1297G>C (p.Val433Leu)
c.1246G>C (p.Val416Leu)
c.1132G>C (p.Val378Leu)
c.1237G>C (p.Val413Leu)
c.1087G>C (p.Val363Leu)
c.979G>C (p.Val327Leu)
dbSNP
2g.224503750C>TCA350827505CUL3c.1279G>A (p.Val427Ile)
c.1081G>A (p.Val361Ile)
c.1207G>A (p.Val403Ile)
n.575G>A
c.3G>A (p.Met1Ile)
c.1297G>A (p.Val433Ile)
c.1246G>A (p.Val416Ile)
c.1132G>A (p.Val378Ile)
c.1237G>A (p.Val413Ile)
c.1087G>A (p.Val363Ile)
c.979G>A (p.Val327Ile)
dbSNP
2g.224503751A=CA1331555948CUL3c.1278T= (p.Asp426=)
c.1080T= (p.Asp360=)
c.1206T= (p.Asp402=)
n.574T=
c.2T= (p.Met1=)
c.1296T= (p.Asp432=)
c.1245T= (p.Asp415=)
c.1131T= (p.Asp377=)
c.1236T= (p.Asp412=)
c.1086T= (p.Asp362=)
c.978T= (p.Asp326=)
2g.224503751A>CCA350827508CUL3c.1278T>G (p.Asp426Glu)
c.1080T>G (p.Asp360Glu)
c.1206T>G (p.Asp402Glu)
n.574T>G
c.2T>G (p.Met1Arg)
c.1296T>G (p.Asp432Glu)
c.1245T>G (p.Asp415Glu)
c.1131T>G (p.Asp377Glu)
c.1236T>G (p.Asp412Glu)
c.1086T>G (p.Asp362Glu)
c.978T>G (p.Asp326Glu)
2g.224503751A>GCA350827510CUL3c.1278T>C (p.Asp426=)
c.1080T>C (p.Asp360=)
c.1206T>C (p.Asp402=)
n.574T>C
c.2T>C (p.Met1Thr)
c.1296T>C (p.Asp432=)
c.1245T>C (p.Asp415=)
c.1131T>C (p.Asp377=)
c.1236T>C (p.Asp412=)
c.1086T>C (p.Asp362=)
c.978T>C (p.Asp326=)
dbSNP gnomAD v2 gnomAD v4
2g.224503751A>TCA350827512CUL3c.1278T>A (p.Asp426Glu)
c.1080T>A (p.Asp360Glu)
c.1206T>A (p.Asp402Glu)
n.574T>A
c.2T>A (p.Met1Lys)
c.1296T>A (p.Asp432Glu)
c.1245T>A (p.Asp415Glu)
c.1131T>A (p.Asp377Glu)
c.1236T>A (p.Asp412Glu)
c.1086T>A (p.Asp362Glu)
c.978T>A (p.Asp326Glu)
dbSNP
2g.224503752T>ACA350827514CUL3c.1277A>T (p.Asp426Val)
c.1079A>T (p.Asp360Val)
c.1205A>T (p.Asp402Val)
n.573A>T
c.1A>T (p.Met1Leu)
c.1295A>T (p.Asp432Val)
c.1244A>T (p.Asp415Val)
c.1130A>T (p.Asp377Val)
c.1235A>T (p.Asp412Val)
c.1085A>T (p.Asp362Val)
c.977A>T (p.Asp326Val)
2g.224503752T>CCA350827515CUL3c.1277A>G (p.Asp426Gly)
c.1079A>G (p.Asp360Gly)
c.1205A>G (p.Asp402Gly)
n.573A>G
c.1A>G (p.Met1Val)
c.1295A>G (p.Asp432Gly)
c.1244A>G (p.Asp415Gly)
c.1130A>G (p.Asp377Gly)
c.1235A>G (p.Asp412Gly)
c.1085A>G (p.Asp362Gly)
c.977A>G (p.Asp326Gly)
2g.224503752T>GCA350827518CUL3c.1277A>C (p.Asp426Ala)
c.1079A>C (p.Asp360Ala)
c.1205A>C (p.Asp402Ala)
n.573A>C
c.1A>C (p.Met1Leu)
c.1295A>C (p.Asp432Ala)
c.1244A>C (p.Asp415Ala)
c.1130A>C (p.Asp377Ala)
c.1235A>C (p.Asp412Ala)
c.1085A>C (p.Asp362Ala)
c.977A>C (p.Asp326Ala)
2g.224503753C>ACA350827521CUL3c.1276G>T (p.Asp426Tyr)
c.1078G>T (p.Asp360Tyr)
c.1204G>T (p.Asp402Tyr)
n.572G>T
c.-1G>T (n.-1G>T)
c.1294G>T (p.Asp432Tyr)
c.1243G>T (p.Asp415Tyr)
c.1129G>T (p.Asp377Tyr)
c.1234G>T (p.Asp412Tyr)
c.1084G>T (p.Asp362Tyr)
c.976G>T (p.Asp326Tyr)
gnomAD v4
2g.224503753C>GCA350827519CUL3c.1276G>C (p.Asp426His)
c.1078G>C (p.Asp360His)
c.1204G>C (p.Asp402His)
n.572G>C
c.-1G>C (n.-1G>C)
c.1294G>C (p.Asp432His)
c.1243G>C (p.Asp415His)
c.1129G>C (p.Asp377His)
c.1234G>C (p.Asp412His)
c.1084G>C (p.Asp362His)
c.976G>C (p.Asp326His)
dbSNP COSMIC
2g.224503753C>TCA350827520CUL3c.1276G>A (p.Asp426Asn)
c.1078G>A (p.Asp360Asn)
c.1204G>A (p.Asp402Asn)
n.572G>A
c.-1G>A (n.-1G>A)
c.1294G>A (p.Asp432Asn)
c.1243G>A (p.Asp415Asn)
c.1129G>A (p.Asp377Asn)
c.1234G>A (p.Asp412Asn)
c.1084G>A (p.Asp362Asn)
c.976G>A (p.Asp326Asn)
dbSNP
2g.224503754T>ACA350827522CUL3c.1275A>T (p.Lys425Asn)
c.1077A>T (p.Lys359Asn)
c.1203A>T (p.Lys401Asn)
n.571A>T
c.-2A>T (n.-2A>T)
c.1293A>T (p.Lys431Asn)
c.1242A>T (p.Lys414Asn)
c.1128A>T (p.Lys376Asn)
c.1233A>T (p.Lys411Asn)
c.1083A>T (p.Lys361Asn)
c.975A>T (p.Lys325Asn)
2g.224503754T>CCA431492701CUL3c.1275A>G (p.Lys425=)
c.1077A>G (p.Lys359=)
c.1203A>G (p.Lys401=)
n.571A>G
c.-2A>G (n.-2A>G)
c.1293A>G (p.Lys431=)
c.1242A>G (p.Lys414=)
c.1128A>G (p.Lys376=)
c.1233A>G (p.Lys411=)
c.1083A>G (p.Lys361=)
c.975A>G (p.Lys325=)
dbSNP
2g.224503754T>GCA350827523CUL3c.1275A>C (p.Lys425Asn)
c.1077A>C (p.Lys359Asn)
c.1203A>C (p.Lys401Asn)
n.571A>C
c.-2A>C (n.-2A>C)
c.1293A>C (p.Lys431Asn)
c.1242A>C (p.Lys414Asn)
c.1128A>C (p.Lys376Asn)
c.1233A>C (p.Lys411Asn)
c.1083A>C (p.Lys361Asn)
c.975A>C (p.Lys325Asn)
2g.224503755T>ACA350827524CUL3c.1274A>T (p.Lys425Ile)
c.1076A>T (p.Lys359Ile)
c.1202A>T (p.Lys401Ile)
n.570A>T
c.-3A>T (n.-3A>T)
c.1292A>T (p.Lys431Ile)
c.1241A>T (p.Lys414Ile)
c.1127A>T (p.Lys376Ile)
c.1232A>T (p.Lys411Ile)
c.1082A>T (p.Lys361Ile)
c.974A>T (p.Lys325Ile)
2g.224503755T>CCA350827525CUL3c.1274A>G (p.Lys425Arg)
c.1076A>G (p.Lys359Arg)
c.1202A>G (p.Lys401Arg)
n.570A>G
c.-3A>G (n.-3A>G)
c.1292A>G (p.Lys431Arg)
c.1241A>G (p.Lys414Arg)
c.1127A>G (p.Lys376Arg)
c.1232A>G (p.Lys411Arg)
c.1082A>G (p.Lys361Arg)
c.974A>G (p.Lys325Arg)
2g.224503755T>GCA350827526CUL3c.1274A>C (p.Lys425Thr)
c.1076A>C (p.Lys359Thr)
c.1202A>C (p.Lys401Thr)
n.570A>C
c.-3A>C (n.-3A>C)
c.1292A>C (p.Lys431Thr)
c.1241A>C (p.Lys414Thr)
c.1127A>C (p.Lys376Thr)
c.1232A>C (p.Lys411Thr)
c.1082A>C (p.Lys361Thr)
c.974A>C (p.Lys325Thr)
2g.224503756T>ACA350827527CUL3c.1273A>T (p.Lys425Ter)
c.1075A>T (p.Lys359Ter)
c.1201A>T (p.Lys401Ter)
n.569A>T
c.-4A>T (n.-4A>T)
c.1291A>T (p.Lys431Ter)
c.1240A>T (p.Lys414Ter)
c.1126A>T (p.Lys376Ter)
c.1231A>T (p.Lys411Ter)
c.1081A>T (p.Lys361Ter)
c.973A>T (p.Lys325Ter)
2g.224503756T>CCA350827529CUL3c.1273A>G (p.Lys425Glu)
c.1075A>G (p.Lys359Glu)
c.1201A>G (p.Lys401Glu)
n.569A>G
c.-4A>G (n.-4A>G)
c.1291A>G (p.Lys431Glu)
c.1240A>G (p.Lys414Glu)
c.1126A>G (p.Lys376Glu)
c.1231A>G (p.Lys411Glu)
c.1081A>G (p.Lys361Glu)
c.973A>G (p.Lys325Glu)
2g.224503756T>GCA350827528CUL3c.1273A>C (p.Lys425Gln)
c.1075A>C (p.Lys359Gln)
c.1201A>C (p.Lys401Gln)
n.569A>C
c.-4A>C (n.-4A>C)
c.1291A>C (p.Lys431Gln)
c.1240A>C (p.Lys414Gln)
c.1126A>C (p.Lys376Gln)
c.1231A>C (p.Lys411Gln)
c.1081A>C (p.Lys361Gln)
c.973A>C (p.Lys325Gln)
2g.224503757T>ACA350827530CUL3c.1272A>T (p.Glu424Asp)
c.1074A>T (p.Glu358Asp)
c.1200A>T (p.Glu400Asp)
n.568A>T
c.-5A>T (n.-5A>T)
c.1290A>T (p.Glu430Asp)
c.1239A>T (p.Glu413Asp)
c.1125A>T (p.Glu375Asp)
c.1230A>T (p.Glu410Asp)
c.1080A>T (p.Glu360Asp)
c.972A>T (p.Glu324Asp)
2g.224503757T>CCA431492702CUL3c.1272A>G (p.Glu424=)
c.1074A>G (p.Glu358=)
c.1200A>G (p.Glu400=)
n.568A>G
c.-5A>G (n.-5A>G)
c.1290A>G (p.Glu430=)
c.1239A>G (p.Glu413=)
c.1125A>G (p.Glu375=)
c.1230A>G (p.Glu410=)
c.1080A>G (p.Glu360=)
c.972A>G (p.Glu324=)
2g.224503757T>GCA350827531CUL3c.1272A>C (p.Glu424Asp)
c.1074A>C (p.Glu358Asp)
c.1200A>C (p.Glu400Asp)
n.568A>C
c.-5A>C (n.-5A>C)
c.1290A>C (p.Glu430Asp)
c.1239A>C (p.Glu413Asp)
c.1125A>C (p.Glu375Asp)
c.1230A>C (p.Glu410Asp)
c.1080A>C (p.Glu360Asp)
c.972A>C (p.Glu324Asp)
2g.224503758T>ACA350827532CUL3c.1271A>T (p.Glu424Val)
c.1073A>T (p.Glu358Val)
c.1199A>T (p.Glu400Val)
n.567A>T
c.-6A>T (n.-6A>T)
c.1289A>T (p.Glu430Val)
c.1238A>T (p.Glu413Val)
c.1124A>T (p.Glu375Val)
c.1229A>T (p.Glu410Val)
c.1079A>T (p.Glu360Val)
c.971A>T (p.Glu324Val)
dbSNP
2g.224503758T>CCA350827533CUL3c.1271A>G (p.Glu424Gly)
c.1073A>G (p.Glu358Gly)
c.1199A>G (p.Glu400Gly)
n.567A>G
c.-6A>G (n.-6A>G)
c.1289A>G (p.Glu430Gly)
c.1238A>G (p.Glu413Gly)
c.1124A>G (p.Glu375Gly)
c.1229A>G (p.Glu410Gly)
c.1079A>G (p.Glu360Gly)
c.971A>G (p.Glu324Gly)
dbSNP
2g.224503758T>GCA350827534CUL3c.1271A>C (p.Glu424Ala)
c.1073A>C (p.Glu358Ala)
c.1199A>C (p.Glu400Ala)
n.567A>C
c.-6A>C (n.-6A>C)
c.1289A>C (p.Glu430Ala)
c.1238A>C (p.Glu413Ala)
c.1124A>C (p.Glu375Ala)
c.1229A>C (p.Glu410Ala)
c.1079A>C (p.Glu360Ala)
c.971A>C (p.Glu324Ala)
2g.224503759C>ACA350827535CUL3c.1270G>T (p.Glu424Ter)
c.1072G>T (p.Glu358Ter)
c.1198G>T (p.Glu400Ter)
n.566G>T
c.-7G>T (n.-7G>T)
c.1288G>T (p.Glu430Ter)
c.1237G>T (p.Glu413Ter)
c.1123G>T (p.Glu375Ter)
c.1228G>T (p.Glu410Ter)
c.1078G>T (p.Glu360Ter)
c.970G>T (p.Glu324Ter)
dbSNP
2g.224503759C>GCA350827536CUL3c.1270G>C (p.Glu424Gln)
c.1072G>C (p.Glu358Gln)
c.1198G>C (p.Glu400Gln)
n.566G>C
c.-7G>C (n.-7G>C)
c.1288G>C (p.Glu430Gln)
c.1237G>C (p.Glu413Gln)
c.1123G>C (p.Glu375Gln)
c.1228G>C (p.Glu410Gln)
c.1078G>C (p.Glu360Gln)
c.970G>C (p.Glu324Gln)
dbSNP
2g.224503759C>TCA350827537CUL3c.1270G>A (p.Glu424Lys)
c.1072G>A (p.Glu358Lys)
c.1198G>A (p.Glu400Lys)
n.566G>A
c.-7G>A (n.-7G>A)
c.1288G>A (p.Glu430Lys)
c.1237G>A (p.Glu413Lys)
c.1123G>A (p.Glu375Lys)
c.1228G>A (p.Glu410Lys)
c.1078G>A (p.Glu360Lys)
c.970G>A (p.Glu324Lys)
dbSNP
2g.224503760T>ACA350827538CUL3c.1269A>T (p.Gln423His)
c.1071A>T (p.Gln357His)
c.1197A>T (p.Gln399His)
n.565A>T
c.-8A>T (n.-8A>T)
c.1287A>T (p.Gln429His)
c.1236A>T (p.Gln412His)
c.1122A>T (p.Gln374His)
c.1227A>T (p.Gln409His)
c.1077A>T (p.Gln359His)
c.969A>T (p.Gln323His)
2g.224503760T>CCA431492703CUL3c.1269A>G (p.Gln423=)
c.1071A>G (p.Gln357=)
c.1197A>G (p.Gln399=)
n.565A>G
c.-8A>G (n.-8A>G)
c.1287A>G (p.Gln429=)
c.1236A>G (p.Gln412=)
c.1122A>G (p.Gln374=)
c.1227A>G (p.Gln409=)
c.1077A>G (p.Gln359=)
c.969A>G (p.Gln323=)
2g.224503760T>GCA350827539CUL3c.1269A>C (p.Gln423His)
c.1071A>C (p.Gln357His)
c.1197A>C (p.Gln399His)
n.565A>C
c.-8A>C (n.-8A>C)
c.1287A>C (p.Gln429His)
c.1236A>C (p.Gln412His)
c.1122A>C (p.Gln374His)
c.1227A>C (p.Gln409His)
c.1077A>C (p.Gln359His)
c.969A>C (p.Gln323His)
2g.224503761T>ACA350827540CUL3c.1268A>T (p.Gln423Leu)
c.1070A>T (p.Gln357Leu)
c.1196A>T (p.Gln399Leu)
n.564A>T
c.-9A>T (n.-9A>T)
c.1286A>T (p.Gln429Leu)
c.1235A>T (p.Gln412Leu)
c.1121A>T (p.Gln374Leu)
c.1226A>T (p.Gln409Leu)
c.1076A>T (p.Gln359Leu)
c.968A>T (p.Gln323Leu)
dbSNP
2g.224503761T>CCA350827542CUL3c.1268A>G (p.Gln423Arg)
c.1070A>G (p.Gln357Arg)
c.1196A>G (p.Gln399Arg)
n.564A>G
c.-9A>G (n.-9A>G)
c.1286A>G (p.Gln429Arg)
c.1235A>G (p.Gln412Arg)
c.1121A>G (p.Gln374Arg)
c.1226A>G (p.Gln409Arg)
c.1076A>G (p.Gln359Arg)
c.968A>G (p.Gln323Arg)
dbSNP
2g.224503761T>GCA350827541CUL3c.1268A>C (p.Gln423Pro)
c.1070A>C (p.Gln357Pro)
c.1196A>C (p.Gln399Pro)
n.564A>C
c.-9A>C (n.-9A>C)
c.1286A>C (p.Gln429Pro)
c.1235A>C (p.Gln412Pro)
c.1121A>C (p.Gln374Pro)
c.1226A>C (p.Gln409Pro)
c.1076A>C (p.Gln359Pro)
c.968A>C (p.Gln323Pro)
2g.224503762G>ACA350827543CUL3c.1267C>T (p.Gln423Ter)
c.1069C>T (p.Gln357Ter)
c.1195C>T (p.Gln399Ter)
n.563C>T
c.-10C>T (n.-10C>T)
c.1285C>T (p.Gln429Ter)
c.1234C>T (p.Gln412Ter)
c.1120C>T (p.Gln374Ter)
c.1225C>T (p.Gln409Ter)
c.1075C>T (p.Gln359Ter)
c.967C>T (p.Gln323Ter)
dbSNP gnomAD v4
2g.224503762G>CCA350827545CUL3c.1267C>G (p.Gln423Glu)
c.1069C>G (p.Gln357Glu)
c.1195C>G (p.Gln399Glu)
n.563C>G
c.-10C>G (n.-10C>G)
c.1285C>G (p.Gln429Glu)
c.1234C>G (p.Gln412Glu)
c.1120C>G (p.Gln374Glu)
c.1225C>G (p.Gln409Glu)
c.1075C>G (p.Gln359Glu)
c.967C>G (p.Gln323Glu)
dbSNP
2g.224503762G>TCA350827544CUL3c.1267C>A (p.Gln423Lys)
c.1069C>A (p.Gln357Lys)
c.1195C>A (p.Gln399Lys)
n.563C>A
c.-10C>A (n.-10C>A)
c.1285C>A (p.Gln429Lys)
c.1234C>A (p.Gln412Lys)
c.1120C>A (p.Gln374Lys)
c.1225C>A (p.Gln409Lys)
c.1075C>A (p.Gln359Lys)
c.967C>A (p.Gln323Lys)
gnomAD v4
2g.224503763C>ACA350827546CUL3c.1266G>T (p.Met422Ile)
c.1068G>T (p.Met356Ile)
c.1194G>T (p.Met398Ile)
n.562G>T
c.-11G>T (n.-11G>T)
c.1284G>T (p.Met428Ile)
c.1233G>T (p.Met411Ile)
c.1119G>T (p.Met373Ile)
c.1224G>T (p.Met408Ile)
c.1074G>T (p.Met358Ile)
c.966G>T (p.Met322Ile)
dbSNP
2g.224503763C>GCA350827547CUL3c.1266G>C (p.Met422Ile)
c.1068G>C (p.Met356Ile)
c.1194G>C (p.Met398Ile)
n.562G>C
c.-11G>C (n.-11G>C)
c.1284G>C (p.Met428Ile)
c.1233G>C (p.Met411Ile)
c.1119G>C (p.Met373Ile)
c.1224G>C (p.Met408Ile)
c.1074G>C (p.Met358Ile)
c.966G>C (p.Met322Ile)
dbSNP
2g.224503763C>TCA350827548CUL3c.1266G>A (p.Met422Ile)
c.1068G>A (p.Met356Ile)
c.1194G>A (p.Met398Ile)
n.562G>A
c.-11G>A (n.-11G>A)
c.1284G>A (p.Met428Ile)
c.1233G>A (p.Met411Ile)
c.1119G>A (p.Met373Ile)
c.1224G>A (p.Met408Ile)
c.1074G>A (p.Met358Ile)
c.966G>A (p.Met322Ile)
dbSNP gnomAD v4
2g.224503764A>CCA350827549CUL3c.1265T>G (p.Met422Arg)
c.1067T>G (p.Met356Arg)
c.1193T>G (p.Met398Arg)
n.561T>G
c.-12T>G (n.-12T>G)
c.1283T>G (p.Met428Arg)
c.1232T>G (p.Met411Arg)
c.1118T>G (p.Met373Arg)
c.1223T>G (p.Met408Arg)
c.1073T>G (p.Met358Arg)
c.965T>G (p.Met322Arg)
2g.224503764A>GCA350827550CUL3c.1265T>C (p.Met422Thr)
c.1067T>C (p.Met356Thr)
c.1193T>C (p.Met398Thr)
n.561T>C
c.-12T>C (n.-12T>C)
c.1283T>C (p.Met428Thr)
c.1232T>C (p.Met411Thr)
c.1118T>C (p.Met373Thr)
c.1223T>C (p.Met408Thr)
c.1073T>C (p.Met358Thr)
c.965T>C (p.Met322Thr)
2g.224503764A>TCA350827551CUL3c.1265T>A (p.Met422Lys)
c.1067T>A (p.Met356Lys)
c.1193T>A (p.Met398Lys)
n.561T>A
c.-12T>A (n.-12T>A)
c.1283T>A (p.Met428Lys)
c.1232T>A (p.Met411Lys)
c.1118T>A (p.Met373Lys)
c.1223T>A (p.Met408Lys)
c.1073T>A (p.Met358Lys)
c.965T>A (p.Met322Lys)
dbSNP
2g.224503765T>ACA350827552CUL3c.1264A>T (p.Met422Leu)
c.1066A>T (p.Met356Leu)
c.1192A>T (p.Met398Leu)
n.560A>T
c.-13A>T (n.-13A>T)
c.1282A>T (p.Met428Leu)
c.1231A>T (p.Met411Leu)
c.1117A>T (p.Met373Leu)
c.1222A>T (p.Met408Leu)
c.1072A>T (p.Met358Leu)
c.964A>T (p.Met322Leu)
2g.224503765T>CCA350827553CUL3c.1264A>G (p.Met422Val)
c.1066A>G (p.Met356Val)
c.1192A>G (p.Met398Val)
n.560A>G
c.-13A>G (n.-13A>G)
c.1282A>G (p.Met428Val)
c.1231A>G (p.Met411Val)
c.1117A>G (p.Met373Val)
c.1222A>G (p.Met408Val)
c.1072A>G (p.Met358Val)
c.964A>G (p.Met322Val)
2g.224503765T>GCA350827554CUL3c.1264A>C (p.Met422Leu)
c.1066A>C (p.Met356Leu)
c.1192A>C (p.Met398Leu)
n.560A>C
c.-13A>C (n.-13A>C)
c.1282A>C (p.Met428Leu)
c.1231A>C (p.Met411Leu)
c.1117A>C (p.Met373Leu)
c.1222A>C (p.Met408Leu)
c.1072A>C (p.Met358Leu)
c.964A>C (p.Met322Leu)
ClinVar
2g.224503766A=CA1331555949CUL3c.1263T= (p.Phe421=)
c.1065T= (p.Phe355=)
c.1191T= (p.Phe397=)
n.559T=
c.-14T= (n.-14T=)
c.1281T= (p.Phe427=)
c.1230T= (p.Phe410=)
c.1116T= (p.Phe372=)
c.1221T= (p.Phe407=)
c.1071T= (p.Phe357=)
c.963T= (p.Phe321=)
2g.224503766A>CCA2140020CUL3c.1263T>G (p.Phe421Leu)
c.1065T>G (p.Phe355Leu)
c.1191T>G (p.Phe397Leu)
n.559T>G
c.-14T>G (n.-14T>G)
c.1281T>G (p.Phe427Leu)
c.1230T>G (p.Phe410Leu)
c.1116T>G (p.Phe372Leu)
c.1221T>G (p.Phe407Leu)
c.1071T>G (p.Phe357Leu)
c.963T>G (p.Phe321Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503766A>GCA431492707CUL3c.1263T>C (p.Phe421=)
c.1065T>C (p.Phe355=)
c.1191T>C (p.Phe397=)
n.559T>C
c.-14T>C (n.-14T>C)
c.1281T>C (p.Phe427=)
c.1230T>C (p.Phe410=)
c.1116T>C (p.Phe372=)
c.1221T>C (p.Phe407=)
c.1071T>C (p.Phe357=)
c.963T>C (p.Phe321=)
dbSNP
2g.224503766A>TCA350827555CUL3c.1263T>A (p.Phe421Leu)
c.1065T>A (p.Phe355Leu)
c.1191T>A (p.Phe397Leu)
n.559T>A
c.-14T>A (n.-14T>A)
c.1281T>A (p.Phe427Leu)
c.1230T>A (p.Phe410Leu)
c.1116T>A (p.Phe372Leu)
c.1221T>A (p.Phe407Leu)
c.1071T>A (p.Phe357Leu)
c.963T>A (p.Phe321Leu)
dbSNP COSMIC
2g.224503767A=CA1331555950CUL3c.1262T= (p.Phe421=)
c.1064T= (p.Phe355=)
c.1190T= (p.Phe397=)
n.558T=
c.-15T= (n.-15T=)
c.1280T= (p.Phe427=)
c.1229T= (p.Phe410=)
c.1115T= (p.Phe372=)
c.1220T= (p.Phe407=)
c.1070T= (p.Phe357=)
c.962T= (p.Phe321=)
2g.224503767A>CCA350827558CUL3c.1262T>G (p.Phe421Cys)
c.1064T>G (p.Phe355Cys)
c.1190T>G (p.Phe397Cys)
n.558T>G
c.-15T>G (n.-15T>G)
c.1280T>G (p.Phe427Cys)
c.1229T>G (p.Phe410Cys)
c.1115T>G (p.Phe372Cys)
c.1220T>G (p.Phe407Cys)
c.1070T>G (p.Phe357Cys)
c.962T>G (p.Phe321Cys)
dbSNP gnomAD v3 gnomAD v4
2g.224503767A>GCA350827556CUL3c.1262T>C (p.Phe421Ser)
c.1064T>C (p.Phe355Ser)
c.1190T>C (p.Phe397Ser)
n.558T>C
c.-15T>C (n.-15T>C)
c.1280T>C (p.Phe427Ser)
c.1229T>C (p.Phe410Ser)
c.1115T>C (p.Phe372Ser)
c.1220T>C (p.Phe407Ser)
c.1070T>C (p.Phe357Ser)
c.962T>C (p.Phe321Ser)
dbSNP
2g.224503767A>TCA350827557CUL3c.1262T>A (p.Phe421Tyr)
c.1064T>A (p.Phe355Tyr)
c.1190T>A (p.Phe397Tyr)
n.558T>A
c.-15T>A (n.-15T>A)
c.1280T>A (p.Phe427Tyr)
c.1229T>A (p.Phe410Tyr)
c.1115T>A (p.Phe372Tyr)
c.1220T>A (p.Phe407Tyr)
c.1070T>A (p.Phe357Tyr)
c.962T>A (p.Phe321Tyr)
dbSNP
2g.224503768A>CCA350827561CUL3c.1261T>G (p.Phe421Val)
c.1063T>G (p.Phe355Val)
c.1189T>G (p.Phe397Val)
n.557T>G
c.-16T>G (n.-16T>G)
c.1279T>G (p.Phe427Val)
c.1228T>G (p.Phe410Val)
c.1114T>G (p.Phe372Val)
c.1219T>G (p.Phe407Val)
c.1069T>G (p.Phe357Val)
c.961T>G (p.Phe321Val)
dbSNP
2g.224503768A>GCA350827562CUL3c.1261T>C (p.Phe421Leu)
c.1063T>C (p.Phe355Leu)
c.1189T>C (p.Phe397Leu)
n.557T>C
c.-16T>C (n.-16T>C)
c.1279T>C (p.Phe427Leu)
c.1228T>C (p.Phe410Leu)
c.1114T>C (p.Phe372Leu)
c.1219T>C (p.Phe407Leu)
c.1069T>C (p.Phe357Leu)
c.961T>C (p.Phe321Leu)
dbSNP
2g.224503768A>TCA350827564CUL3c.1261T>A (p.Phe421Ile)
c.1063T>A (p.Phe355Ile)
c.1189T>A (p.Phe397Ile)
n.557T>A
c.-16T>A (n.-16T>A)
c.1279T>A (p.Phe427Ile)
c.1228T>A (p.Phe410Ile)
c.1114T>A (p.Phe372Ile)
c.1219T>A (p.Phe407Ile)
c.1069T>A (p.Phe357Ile)
c.961T>A (p.Phe321Ile)
dbSNP
2g.224503769C>ACA350827565CUL3c.1260G>T (p.Arg420Ser)
c.1062G>T (p.Arg354Ser)
c.1188G>T (p.Arg396Ser)
n.556G>T
c.-17G>T (n.-17G>T)
c.1278G>T (p.Arg426Ser)
c.1227G>T (p.Arg409Ser)
c.1113G>T (p.Arg371Ser)
c.1218G>T (p.Arg406Ser)
c.1068G>T (p.Arg356Ser)
c.960G>T (p.Arg320Ser)
dbSNP
2g.224503769C>GCA350827567CUL3c.1260G>C (p.Arg420Ser)
c.1062G>C (p.Arg354Ser)
c.1188G>C (p.Arg396Ser)
n.556G>C
c.-17G>C (n.-17G>C)
c.1278G>C (p.Arg426Ser)
c.1227G>C (p.Arg409Ser)
c.1113G>C (p.Arg371Ser)
c.1218G>C (p.Arg406Ser)
c.1068G>C (p.Arg356Ser)
c.960G>C (p.Arg320Ser)
dbSNP
2g.224503769C>TCA431492708CUL3c.1260G>A (p.Arg420=)
c.1062G>A (p.Arg354=)
c.1188G>A (p.Arg396=)
n.556G>A
c.-17G>A (n.-17G>A)
c.1278G>A (p.Arg426=)
c.1227G>A (p.Arg409=)
c.1113G>A (p.Arg371=)
c.1218G>A (p.Arg406=)
c.1068G>A (p.Arg356=)
c.960G>A (p.Arg320=)
dbSNP gnomAD v4
2g.224503770C>ACA350827570CUL3c.1259G>T (p.Arg420Met)
c.1061G>T (p.Arg354Met)
c.1187G>T (p.Arg396Met)
n.555G>T
c.-18G>T (n.-18G>T)
c.1277G>T (p.Arg426Met)
c.1226G>T (p.Arg409Met)
c.1112G>T (p.Arg371Met)
c.1217G>T (p.Arg406Met)
c.1067G>T (p.Arg356Met)
c.959G>T (p.Arg320Met)
dbSNP
2g.224503770C>GCA350827571CUL3c.1259G>C (p.Arg420Thr)
c.1061G>C (p.Arg354Thr)
c.1187G>C (p.Arg396Thr)
n.555G>C
c.-18G>C (n.-18G>C)
c.1277G>C (p.Arg426Thr)
c.1226G>C (p.Arg409Thr)
c.1112G>C (p.Arg371Thr)
c.1217G>C (p.Arg406Thr)
c.1067G>C (p.Arg356Thr)
c.959G>C (p.Arg320Thr)
dbSNP
2g.224503770C>TCA350827573CUL3c.1259G>A (p.Arg420Lys)
c.1061G>A (p.Arg354Lys)
c.1187G>A (p.Arg396Lys)
n.555G>A
c.-18G>A (n.-18G>A)
c.1277G>A (p.Arg426Lys)
c.1226G>A (p.Arg409Lys)
c.1112G>A (p.Arg371Lys)
c.1217G>A (p.Arg406Lys)
c.1067G>A (p.Arg356Lys)
c.959G>A (p.Arg320Lys)
dbSNP
2g.224503771T>ACA350827575CUL3c.1258A>T (p.Arg420Trp)
c.1060A>T (p.Arg354Trp)
c.1186A>T (p.Arg396Trp)
n.554A>T
c.-19A>T (n.-19A>T)
c.1276A>T (p.Arg426Trp)
c.1225A>T (p.Arg409Trp)
c.1111A>T (p.Arg371Trp)
c.1216A>T (p.Arg406Trp)
c.1066A>T (p.Arg356Trp)
c.958A>T (p.Arg320Trp)
2g.224503771T>CCA350827577CUL3c.1258A>G (p.Arg420Gly)
c.1060A>G (p.Arg354Gly)
c.1186A>G (p.Arg396Gly)
n.554A>G
c.-19A>G (n.-19A>G)
c.1276A>G (p.Arg426Gly)
c.1225A>G (p.Arg409Gly)
c.1111A>G (p.Arg371Gly)
c.1216A>G (p.Arg406Gly)
c.1066A>G (p.Arg356Gly)
c.958A>G (p.Arg320Gly)
gnomAD v4
2g.224503771T>GCA431492710CUL3c.1258A>C (p.Arg420=)
c.1060A>C (p.Arg354=)
c.1186A>C (p.Arg396=)
n.554A>C
c.-19A>C (n.-19A>C)
c.1276A>C (p.Arg426=)
c.1225A>C (p.Arg409=)
c.1111A>C (p.Arg371=)
c.1216A>C (p.Arg406=)
c.1066A>C (p.Arg356=)
c.958A>C (p.Arg320=)
2g.224503772A=CA1331555951CUL3c.1257T= (p.Phe419=)
c.1059T= (p.Phe353=)
c.1185T= (p.Phe395=)
n.553T=
c.-20T= (n.-20T=)
c.1275T= (p.Phe425=)
c.1224T= (p.Phe408=)
c.1110T= (p.Phe370=)
c.1215T= (p.Phe405=)
c.1065T= (p.Phe355=)
c.957T= (p.Phe319=)
2g.224503772A>CCA350827583CUL3c.1257T>G (p.Phe419Leu)
c.1059T>G (p.Phe353Leu)
c.1185T>G (p.Phe395Leu)
n.553T>G
c.-20T>G (n.-20T>G)
c.1275T>G (p.Phe425Leu)
c.1224T>G (p.Phe408Leu)
c.1110T>G (p.Phe370Leu)
c.1215T>G (p.Phe405Leu)
c.1065T>G (p.Phe355Leu)
c.957T>G (p.Phe319Leu)
2g.224503772A>GCA66534323CUL3c.1257T>C (p.Phe419=)
c.1059T>C (p.Phe353=)
c.1185T>C (p.Phe395=)
n.553T>C
c.-20T>C (n.-20T>C)
c.1275T>C (p.Phe425=)
c.1224T>C (p.Phe408=)
c.1110T>C (p.Phe370=)
c.1215T>C (p.Phe405=)
c.1065T>C (p.Phe355=)
c.957T>C (p.Phe319=)
dbSNP gnomAD v4
2g.224503772A>TCA350827580CUL3c.1257T>A (p.Phe419Leu)
c.1059T>A (p.Phe353Leu)
c.1185T>A (p.Phe395Leu)
n.553T>A
c.-20T>A (n.-20T>A)
c.1275T>A (p.Phe425Leu)
c.1224T>A (p.Phe408Leu)
c.1110T>A (p.Phe370Leu)
c.1215T>A (p.Phe405Leu)
c.1065T>A (p.Phe355Leu)
c.957T>A (p.Phe319Leu)
2g.224503776delCA2663372489CUL3c.1257del (p.Phe419LeufsTer?)
c.1059del (p.Phe353LeufsTer?)
c.1185del (p.Phe395LeufsTer?)
n.553del
c.-20del (n.-20del)
c.1275del (p.Phe425LeufsTer?)
c.1224del (p.Phe408LeufsTer?)
c.1110del (p.Phe370LeufsTer?)
c.1215del (p.Phe405LeufsTer?)
c.1065del (p.Phe355LeufsTer?)
c.957del (p.Phe319LeufsTer?)
gnomAD v4
2g.224503775_224503776delCA2701739853CUL3c.1256_1257del (p.Phe419Ter)
c.1058_1059del (p.Phe353Ter)
c.1184_1185del (p.Phe395Ter)
n.552_553del
c.-21_-20del (n.-21_-20del)
c.1274_1275del (p.Phe425Ter)
c.1223_1224del (p.Phe408Ter)
c.1109_1110del (p.Phe370Ter)
c.1214_1215del (p.Phe405Ter)
c.1064_1065del (p.Phe355Ter)
c.956_957del (p.Phe319Ter)
dbSNP
2g.224503773A>CCA350827586CUL3c.1256T>G (p.Phe419Cys)
c.1058T>G (p.Phe353Cys)
c.1184T>G (p.Phe395Cys)
n.552T>G
c.-21T>G (n.-21T>G)
c.1274T>G (p.Phe425Cys)
c.1223T>G (p.Phe408Cys)
c.1109T>G (p.Phe370Cys)
c.1214T>G (p.Phe405Cys)
c.1064T>G (p.Phe355Cys)
c.956T>G (p.Phe319Cys)
2g.224503773A>GCA350827587CUL3c.1256T>C (p.Phe419Ser)
c.1058T>C (p.Phe353Ser)
c.1184T>C (p.Phe395Ser)
n.552T>C
c.-21T>C (n.-21T>C)
c.1274T>C (p.Phe425Ser)
c.1223T>C (p.Phe408Ser)
c.1109T>C (p.Phe370Ser)
c.1214T>C (p.Phe405Ser)
c.1064T>C (p.Phe355Ser)
c.956T>C (p.Phe319Ser)
2g.224503773A>TCA350827589CUL3c.1256T>A (p.Phe419Tyr)
c.1058T>A (p.Phe353Tyr)
c.1184T>A (p.Phe395Tyr)
n.552T>A
c.-21T>A (n.-21T>A)
c.1274T>A (p.Phe425Tyr)
c.1223T>A (p.Phe408Tyr)
c.1109T>A (p.Phe370Tyr)
c.1214T>A (p.Phe405Tyr)
c.1064T>A (p.Phe355Tyr)
c.956T>A (p.Phe319Tyr)
2g.224503774A>CCA350827591CUL3c.1255T>G (p.Phe419Val)
c.1057T>G (p.Phe353Val)
c.1183T>G (p.Phe395Val)
n.551T>G
c.-22T>G (n.-22T>G)
c.1273T>G (p.Phe425Val)
c.1222T>G (p.Phe408Val)
c.1108T>G (p.Phe370Val)
c.1213T>G (p.Phe405Val)
c.1063T>G (p.Phe355Val)
c.955T>G (p.Phe319Val)
2g.224503774A>GCA350827593CUL3c.1255T>C (p.Phe419Leu)
c.1057T>C (p.Phe353Leu)
c.1183T>C (p.Phe395Leu)
n.551T>C
c.-22T>C (n.-22T>C)
c.1273T>C (p.Phe425Leu)
c.1222T>C (p.Phe408Leu)
c.1108T>C (p.Phe370Leu)
c.1213T>C (p.Phe405Leu)
c.1063T>C (p.Phe355Leu)
c.955T>C (p.Phe319Leu)
gnomAD v4
2g.224503774A>TCA350827595CUL3c.1255T>A (p.Phe419Ile)
c.1057T>A (p.Phe353Ile)
c.1183T>A (p.Phe395Ile)
n.551T>A
c.-22T>A (n.-22T>A)
c.1273T>A (p.Phe425Ile)
c.1222T>A (p.Phe408Ile)
c.1108T>A (p.Phe370Ile)
c.1213T>A (p.Phe405Ile)
c.1063T>A (p.Phe355Ile)
c.955T>A (p.Phe319Ile)
dbSNP
2g.224503775A=CA1331555952CUL3c.1254T= (p.Leu418=)
c.1056T= (p.Leu352=)
c.1182T= (p.Leu394=)
n.550T=
c.-23T= (n.-23T=)
c.1272T= (p.Leu424=)
c.1221T= (p.Leu407=)
c.1107T= (p.Leu369=)
c.1212T= (p.Leu404=)
c.1062T= (p.Leu354=)
c.954T= (p.Leu318=)
2g.224503775A>CCA431492711CUL3c.1254T>G (p.Leu418=)
c.1056T>G (p.Leu352=)
c.1182T>G (p.Leu394=)
n.550T>G
c.-23T>G (n.-23T>G)
c.1272T>G (p.Leu424=)
c.1221T>G (p.Leu407=)
c.1107T>G (p.Leu369=)
c.1212T>G (p.Leu404=)
c.1062T>G (p.Leu354=)
c.954T>G (p.Leu318=)
2g.224503775A>GCA431492712CUL3c.1254T>C (p.Leu418=)
c.1056T>C (p.Leu352=)
c.1182T>C (p.Leu394=)
n.550T>C
c.-23T>C (n.-23T>C)
c.1272T>C (p.Leu424=)
c.1221T>C (p.Leu407=)
c.1107T>C (p.Leu369=)
c.1212T>C (p.Leu404=)
c.1062T>C (p.Leu354=)
c.954T>C (p.Leu318=)
dbSNP gnomAD v3 gnomAD v4
2g.224503775A>TCA431492713CUL3c.1254T>A (p.Leu418=)
c.1056T>A (p.Leu352=)
c.1182T>A (p.Leu394=)
n.550T>A
c.-23T>A (n.-23T>A)
c.1272T>A (p.Leu424=)
c.1221T>A (p.Leu407=)
c.1107T>A (p.Leu369=)
c.1212T>A (p.Leu404=)
c.1062T>A (p.Leu354=)
c.954T>A (p.Leu318=)
2g.224503776A>CCA350827597CUL3c.1253T>G (p.Leu418Arg)
c.1055T>G (p.Leu352Arg)
c.1181T>G (p.Leu394Arg)
n.549T>G
c.-24T>G (n.-24T>G)
c.1271T>G (p.Leu424Arg)
c.1220T>G (p.Leu407Arg)
c.1106T>G (p.Leu369Arg)
c.1211T>G (p.Leu404Arg)
c.1061T>G (p.Leu354Arg)
c.953T>G (p.Leu318Arg)
2g.224503776A>GCA350827599CUL3c.1253T>C (p.Leu418Pro)
c.1055T>C (p.Leu352Pro)
c.1181T>C (p.Leu394Pro)
n.549T>C
c.-24T>C (n.-24T>C)
c.1271T>C (p.Leu424Pro)
c.1220T>C (p.Leu407Pro)
c.1106T>C (p.Leu369Pro)
c.1211T>C (p.Leu404Pro)
c.1061T>C (p.Leu354Pro)
c.953T>C (p.Leu318Pro)
dbSNP gnomAD v4
2g.224503776A>TCA350827601CUL3c.1253T>A (p.Leu418His)
c.1055T>A (p.Leu352His)
c.1181T>A (p.Leu394His)
n.549T>A
c.-24T>A (n.-24T>A)
c.1271T>A (p.Leu424His)
c.1220T>A (p.Leu407His)
c.1106T>A (p.Leu369His)
c.1211T>A (p.Leu404His)
c.1061T>A (p.Leu354His)
c.953T>A (p.Leu318His)
dbSNP
2g.224503777G>ACA350827603CUL3c.1252C>T (p.Leu418Phe)
c.1054C>T (p.Leu352Phe)
c.1180C>T (p.Leu394Phe)
n.548C>T
c.-25C>T (n.-25C>T)
c.1270C>T (p.Leu424Phe)
c.1219C>T (p.Leu407Phe)
c.1105C>T (p.Leu369Phe)
c.1210C>T (p.Leu404Phe)
c.1060C>T (p.Leu354Phe)
c.952C>T (p.Leu318Phe)
dbSNP gnomAD v2 gnomAD v4
2g.224503777G>CCA350827605CUL3c.1252C>G (p.Leu418Val)
c.1054C>G (p.Leu352Val)
c.1180C>G (p.Leu394Val)
n.548C>G
c.-25C>G (n.-25C>G)
c.1270C>G (p.Leu424Val)
c.1219C>G (p.Leu407Val)
c.1105C>G (p.Leu369Val)
c.1210C>G (p.Leu404Val)
c.1060C>G (p.Leu354Val)
c.952C>G (p.Leu318Val)
dbSNP
2g.224503777G=CA1331555953CUL3c.1252C= (p.Leu418=)
c.1054C= (p.Leu352=)
c.1180C= (p.Leu394=)
n.548C=
c.-25C= (n.-25C=)
c.1270C= (p.Leu424=)
c.1219C= (p.Leu407=)
c.1105C= (p.Leu369=)
c.1210C= (p.Leu404=)
c.1060C= (p.Leu354=)
c.952C= (p.Leu318=)
2g.224503777G>TCA350827607CUL3c.1252C>A (p.Leu418Ile)
c.1054C>A (p.Leu352Ile)
c.1180C>A (p.Leu394Ile)
n.548C>A
c.-25C>A (n.-25C>A)
c.1270C>A (p.Leu424Ile)
c.1219C>A (p.Leu407Ile)
c.1105C>A (p.Leu369Ile)
c.1210C>A (p.Leu404Ile)
c.1060C>A (p.Leu354Ile)
c.952C>A (p.Leu318Ile)
dbSNP
2g.224503778G>ACA431492715CUL3c.1251C>T (p.Val417=)
c.1053C>T (p.Val351=)
c.1179C>T (p.Val393=)
n.547C>T
c.-26C>T (n.-26C>T)
c.1269C>T (p.Val423=)
c.1218C>T (p.Val406=)
c.1104C>T (p.Val368=)
c.1209C>T (p.Val403=)
c.1059C>T (p.Val353=)
c.951C>T (p.Val317=)
dbSNP
2g.224503778G>CCA431492716CUL3c.1251C>G (p.Val417=)
c.1053C>G (p.Val351=)
c.1179C>G (p.Val393=)
n.547C>G
c.-26C>G (n.-26C>G)
c.1269C>G (p.Val423=)
c.1218C>G (p.Val406=)
c.1104C>G (p.Val368=)
c.1209C>G (p.Val403=)
c.1059C>G (p.Val353=)
c.951C>G (p.Val317=)
dbSNP
2g.224503778G>TCA431492717CUL3c.1251C>A (p.Val417=)
c.1053C>A (p.Val351=)
c.1179C>A (p.Val393=)
n.547C>A
c.-26C>A (n.-26C>A)
c.1269C>A (p.Val423=)
c.1218C>A (p.Val406=)
c.1104C>A (p.Val368=)
c.1209C>A (p.Val403=)
c.1059C>A (p.Val353=)
c.951C>A (p.Val317=)
dbSNP gnomAD v4
2g.224503779A>CCA350827612CUL3c.1250T>G (p.Val417Gly)
c.1052T>G (p.Val351Gly)
c.1178T>G (p.Val393Gly)
n.546T>G
c.-27T>G (n.-27T>G)
c.1268T>G (p.Val423Gly)
c.1217T>G (p.Val406Gly)
c.1103T>G (p.Val368Gly)
c.1208T>G (p.Val403Gly)
c.1058T>G (p.Val353Gly)
c.950T>G (p.Val317Gly)
2g.224503779A>GCA350827608CUL3c.1250T>C (p.Val417Ala)
c.1052T>C (p.Val351Ala)
c.1178T>C (p.Val393Ala)
n.546T>C
c.-27T>C (n.-27T>C)
c.1268T>C (p.Val423Ala)
c.1217T>C (p.Val406Ala)
c.1103T>C (p.Val368Ala)
c.1208T>C (p.Val403Ala)
c.1058T>C (p.Val353Ala)
c.950T>C (p.Val317Ala)
2g.224503779A>TCA350827610CUL3c.1250T>A (p.Val417Asp)
c.1052T>A (p.Val351Asp)
c.1178T>A (p.Val393Asp)
n.546T>A
c.-27T>A (n.-27T>A)
c.1268T>A (p.Val423Asp)
c.1217T>A (p.Val406Asp)
c.1103T>A (p.Val368Asp)
c.1208T>A (p.Val403Asp)
c.1058T>A (p.Val353Asp)
c.950T>A (p.Val317Asp)
2g.224503780C>ACA350827614CUL3c.1249G>T (p.Val417Phe)
c.1051G>T (p.Val351Phe)
c.1177G>T (p.Val393Phe)
n.545G>T
c.-28G>T (n.-28G>T)
c.1267G>T (p.Val423Phe)
c.1216G>T (p.Val406Phe)
c.1102G>T (p.Val368Phe)
c.1207G>T (p.Val403Phe)
c.1057G>T (p.Val353Phe)
c.949G>T (p.Val317Phe)
dbSNP gnomAD v4
2g.224503780C=CA1331555954CUL3c.1249G= (p.Val417=)
c.1051G= (p.Val351=)
c.1177G= (p.Val393=)
n.545G=
c.-28G= (n.-28G=)
c.1267G= (p.Val423=)
c.1216G= (p.Val406=)
c.1102G= (p.Val368=)
c.1207G= (p.Val403=)
c.1057G= (p.Val353=)
c.949G= (p.Val317=)
2g.224503780C>GCA350827615CUL3c.1249G>C (p.Val417Leu)
c.1051G>C (p.Val351Leu)
c.1177G>C (p.Val393Leu)
n.545G>C
c.-28G>C (n.-28G>C)
c.1267G>C (p.Val423Leu)
c.1216G>C (p.Val406Leu)
c.1102G>C (p.Val368Leu)
c.1207G>C (p.Val403Leu)
c.1057G>C (p.Val353Leu)
c.949G>C (p.Val317Leu)
dbSNP
2g.224503780C>TCA350827617CUL3c.1249G>A (p.Val417Ile)
c.1051G>A (p.Val351Ile)
c.1177G>A (p.Val393Ile)
n.545G>A
c.-28G>A (n.-28G>A)
c.1267G>A (p.Val423Ile)
c.1216G>A (p.Val406Ile)
c.1102G>A (p.Val368Ile)
c.1207G>A (p.Val403Ile)
c.1057G>A (p.Val353Ile)
c.949G>A (p.Val317Ile)
dbSNP gnomAD v2 gnomAD v4
2g.224503781C>ACA350827618CUL3c.1248G>T (p.Met416Ile)
c.1050G>T (p.Met350Ile)
c.1176G>T (p.Met392Ile)
n.544G>T
c.-29G>T (n.-29G>T)
c.1266G>T (p.Met422Ile)
c.1215G>T (p.Met405Ile)
c.1101G>T (p.Met367Ile)
c.1206G>T (p.Met402Ile)
c.1056G>T (p.Met352Ile)
c.948G>T (p.Met316Ile)
dbSNP
2g.224503781C>GCA350827620CUL3c.1248G>C (p.Met416Ile)
c.1050G>C (p.Met350Ile)
c.1176G>C (p.Met392Ile)
n.544G>C
c.-29G>C (n.-29G>C)
c.1266G>C (p.Met422Ile)
c.1215G>C (p.Met405Ile)
c.1101G>C (p.Met367Ile)
c.1206G>C (p.Met402Ile)
c.1056G>C (p.Met352Ile)
c.948G>C (p.Met316Ile)
dbSNP
2g.224503781C>TCA350827622CUL3c.1248G>A (p.Met416Ile)
c.1050G>A (p.Met350Ile)
c.1176G>A (p.Met392Ile)
n.544G>A
c.-29G>A (n.-29G>A)
c.1266G>A (p.Met422Ile)
c.1215G>A (p.Met405Ile)
c.1101G>A (p.Met367Ile)
c.1206G>A (p.Met402Ile)
c.1056G>A (p.Met352Ile)
c.948G>A (p.Met316Ile)
ClinVar dbSNP
2g.224503782A>CCA350827624CUL3c.1247T>G (p.Met416Arg)
c.1049T>G (p.Met350Arg)
c.1175T>G (p.Met392Arg)
n.543T>G
c.-30T>G (n.-30T>G)
c.1265T>G (p.Met422Arg)
c.1214T>G (p.Met405Arg)
c.1100T>G (p.Met367Arg)
c.1205T>G (p.Met402Arg)
c.1055T>G (p.Met352Arg)
c.947T>G (p.Met316Arg)
dbSNP
2g.224503782A>GCA350827625CUL3c.1247T>C (p.Met416Thr)
c.1049T>C (p.Met350Thr)
c.1175T>C (p.Met392Thr)
n.543T>C
c.-30T>C (n.-30T>C)
c.1265T>C (p.Met422Thr)
c.1214T>C (p.Met405Thr)
c.1100T>C (p.Met367Thr)
c.1205T>C (p.Met402Thr)
c.1055T>C (p.Met352Thr)
c.947T>C (p.Met316Thr)
2g.224503782A>TCA350827627CUL3c.1247T>A (p.Met416Lys)
c.1049T>A (p.Met350Lys)
c.1175T>A (p.Met392Lys)
n.543T>A
c.-30T>A (n.-30T>A)
c.1265T>A (p.Met422Lys)
c.1214T>A (p.Met405Lys)
c.1100T>A (p.Met367Lys)
c.1205T>A (p.Met402Lys)
c.1055T>A (p.Met352Lys)
c.947T>A (p.Met316Lys)
dbSNP
2g.224503783T>ACA350827629CUL3c.1246A>T (p.Met416Leu)
c.1048A>T (p.Met350Leu)
c.1174A>T (p.Met392Leu)
n.542A>T
c.-31A>T (n.-31A>T)
c.1264A>T (p.Met422Leu)
c.1213A>T (p.Met405Leu)
c.1099A>T (p.Met367Leu)
c.1204A>T (p.Met402Leu)
c.1054A>T (p.Met352Leu)
c.946A>T (p.Met316Leu)
dbSNP
2g.224503783T>CCA350827631CUL3c.1246A>G (p.Met416Val)
c.1048A>G (p.Met350Val)
c.1174A>G (p.Met392Val)
n.542A>G
c.-31A>G (n.-31A>G)
c.1264A>G (p.Met422Val)
c.1213A>G (p.Met405Val)
c.1099A>G (p.Met367Val)
c.1204A>G (p.Met402Val)
c.1054A>G (p.Met352Val)
c.946A>G (p.Met316Val)
gnomAD v4
2g.224503783T>GCA350827633CUL3c.1246A>C (p.Met416Leu)
c.1048A>C (p.Met350Leu)
c.1174A>C (p.Met392Leu)
n.542A>C
c.-31A>C (n.-31A>C)
c.1264A>C (p.Met422Leu)
c.1213A>C (p.Met405Leu)
c.1099A>C (p.Met367Leu)
c.1204A>C (p.Met402Leu)
c.1054A>C (p.Met352Leu)
c.946A>C (p.Met316Leu)
2g.224503784T>ACA431492718CUL3c.1245A>T (p.Ala415=)
c.1047A>T (p.Ala349=)
c.1173A>T (p.Ala391=)
n.541A>T
c.-32A>T (n.-32A>T)
c.1263A>T (p.Ala421=)
c.1212A>T (p.Ala404=)
c.1098A>T (p.Ala366=)
c.1203A>T (p.Ala401=)
c.1053A>T (p.Ala351=)
c.945A>T (p.Ala315=)
dbSNP
2g.224503784T>CCA431492719CUL3c.1245A>G (p.Ala415=)
c.1047A>G (p.Ala349=)
c.1173A>G (p.Ala391=)
n.541A>G
c.-32A>G (n.-32A>G)
c.1263A>G (p.Ala421=)
c.1212A>G (p.Ala404=)
c.1098A>G (p.Ala366=)
c.1203A>G (p.Ala401=)
c.1053A>G (p.Ala351=)
c.945A>G (p.Ala315=)
2g.224503784T>GCA431492720CUL3c.1245A>C (p.Ala415=)
c.1047A>C (p.Ala349=)
c.1173A>C (p.Ala391=)
n.541A>C
c.-32A>C (n.-32A>C)
c.1263A>C (p.Ala421=)
c.1212A>C (p.Ala404=)
c.1098A>C (p.Ala366=)
c.1203A>C (p.Ala401=)
c.1053A>C (p.Ala351=)
c.945A>C (p.Ala315=)
2g.224503785G>ACA350827637CUL3c.1244C>T (p.Ala415Val)
c.1046C>T (p.Ala349Val)
c.1172C>T (p.Ala391Val)
n.540C>T
c.-33C>T (n.-33C>T)
c.1262C>T (p.Ala421Val)
c.1211C>T (p.Ala404Val)
c.1097C>T (p.Ala366Val)
c.1202C>T (p.Ala401Val)
c.1052C>T (p.Ala351Val)
c.944C>T (p.Ala315Val)
2g.224503785G>CCA350827639CUL3c.1244C>G (p.Ala415Gly)
c.1046C>G (p.Ala349Gly)
c.1172C>G (p.Ala391Gly)
n.540C>G
c.-33C>G (n.-33C>G)
c.1262C>G (p.Ala421Gly)
c.1211C>G (p.Ala404Gly)
c.1097C>G (p.Ala366Gly)
c.1202C>G (p.Ala401Gly)
c.1052C>G (p.Ala351Gly)
c.944C>G (p.Ala315Gly)
dbSNP
2g.224503785G>TCA350827635CUL3c.1244C>A (p.Ala415Glu)
c.1046C>A (p.Ala349Glu)
c.1172C>A (p.Ala391Glu)
n.540C>A
c.-33C>A (n.-33C>A)
c.1262C>A (p.Ala421Glu)
c.1211C>A (p.Ala404Glu)
c.1097C>A (p.Ala366Glu)
c.1202C>A (p.Ala401Glu)
c.1052C>A (p.Ala351Glu)
c.944C>A (p.Ala315Glu)
dbSNP
2g.224503786C>ACA350827643CUL3c.1243G>T (p.Ala415Ser)
c.1045G>T (p.Ala349Ser)
c.1171G>T (p.Ala391Ser)
n.539G>T
c.-34G>T (n.-34G>T)
c.1261G>T (p.Ala421Ser)
c.1210G>T (p.Ala404Ser)
c.1096G>T (p.Ala366Ser)
c.1201G>T (p.Ala401Ser)
c.1051G>T (p.Ala351Ser)
c.943G>T (p.Ala315Ser)
gnomAD v4
2g.224503786C>GCA350827641CUL3c.1243G>C (p.Ala415Pro)
c.1045G>C (p.Ala349Pro)
c.1171G>C (p.Ala391Pro)
n.539G>C
c.-34G>C (n.-34G>C)
c.1261G>C (p.Ala421Pro)
c.1210G>C (p.Ala404Pro)
c.1096G>C (p.Ala366Pro)
c.1201G>C (p.Ala401Pro)
c.1051G>C (p.Ala351Pro)
c.943G>C (p.Ala315Pro)
dbSNP
2g.224503786C>TCA350827644CUL3c.1243G>A (p.Ala415Thr)
c.1045G>A (p.Ala349Thr)
c.1171G>A (p.Ala391Thr)
n.539G>A
c.-34G>A (n.-34G>A)
c.1261G>A (p.Ala421Thr)
c.1210G>A (p.Ala404Thr)
c.1096G>A (p.Ala366Thr)
c.1201G>A (p.Ala401Thr)
c.1051G>A (p.Ala351Thr)
c.943G>A (p.Ala315Thr)
gnomAD v4
2g.224503787T>ACA350827645CUL3c.1242A>T (p.Lys414Asn)
c.1044A>T (p.Lys348Asn)
c.1170A>T (p.Lys390Asn)
n.538A>T
c.-35A>T (n.-35A>T)
c.1260A>T (p.Lys420Asn)
c.1209A>T (p.Lys403Asn)
c.1095A>T (p.Lys365Asn)
c.1200A>T (p.Lys400Asn)
c.1050A>T (p.Lys350Asn)
c.942A>T (p.Lys314Asn)
dbSNP
2g.224503787T>CCA431492721CUL3c.1242A>G (p.Lys414=)
c.1044A>G (p.Lys348=)
c.1170A>G (p.Lys390=)
n.538A>G
c.-35A>G (n.-35A>G)
c.1260A>G (p.Lys420=)
c.1209A>G (p.Lys403=)
c.1095A>G (p.Lys365=)
c.1200A>G (p.Lys400=)
c.1050A>G (p.Lys350=)
c.942A>G (p.Lys314=)
2g.224503787T>GCA350827646CUL3c.1242A>C (p.Lys414Asn)
c.1044A>C (p.Lys348Asn)
c.1170A>C (p.Lys390Asn)
n.538A>C
c.-35A>C (n.-35A>C)
c.1260A>C (p.Lys420Asn)
c.1209A>C (p.Lys403Asn)
c.1095A>C (p.Lys365Asn)
c.1200A>C (p.Lys400Asn)
c.1050A>C (p.Lys350Asn)
c.942A>C (p.Lys314Asn)
2g.224503788T>ACA350827648CUL3c.1241A>T (p.Lys414Ile)
c.1043A>T (p.Lys348Ile)
c.1169A>T (p.Lys390Ile)
n.537A>T
c.-36A>T (n.-36A>T)
c.1259A>T (p.Lys420Ile)
c.1208A>T (p.Lys403Ile)
c.1094A>T (p.Lys365Ile)
c.1199A>T (p.Lys400Ile)
c.1049A>T (p.Lys350Ile)
c.941A>T (p.Lys314Ile)
dbSNP
2g.224503788T>CCA350827649CUL3c.1241A>G (p.Lys414Arg)
c.1043A>G (p.Lys348Arg)
c.1169A>G (p.Lys390Arg)
n.537A>G
c.-36A>G (n.-36A>G)
c.1259A>G (p.Lys420Arg)
c.1208A>G (p.Lys403Arg)
c.1094A>G (p.Lys365Arg)
c.1199A>G (p.Lys400Arg)
c.1049A>G (p.Lys350Arg)
c.941A>G (p.Lys314Arg)
2g.224503788T>GCA350827650CUL3c.1241A>C (p.Lys414Thr)
c.1043A>C (p.Lys348Thr)
c.1169A>C (p.Lys390Thr)
n.537A>C
c.-36A>C (n.-36A>C)
c.1259A>C (p.Lys420Thr)
c.1208A>C (p.Lys403Thr)
c.1094A>C (p.Lys365Thr)
c.1199A>C (p.Lys400Thr)
c.1049A>C (p.Lys350Thr)
c.941A>C (p.Lys314Thr)
2g.224503789T>ACA350827653CUL3c.1240A>T (p.Lys414Ter)
c.1042A>T (p.Lys348Ter)
c.1168A>T (p.Lys390Ter)
n.536A>T
c.-37A>T (n.-37A>T)
c.1258A>T (p.Lys420Ter)
c.1207A>T (p.Lys403Ter)
c.1093A>T (p.Lys365Ter)
c.1198A>T (p.Lys400Ter)
c.1048A>T (p.Lys350Ter)
c.940A>T (p.Lys314Ter)
dbSNP
2g.224503789T>CCA350827654CUL3c.1240A>G (p.Lys414Glu)
c.1042A>G (p.Lys348Glu)
c.1168A>G (p.Lys390Glu)
n.536A>G
c.-37A>G (n.-37A>G)
c.1258A>G (p.Lys420Glu)
c.1207A>G (p.Lys403Glu)
c.1093A>G (p.Lys365Glu)
c.1198A>G (p.Lys400Glu)
c.1048A>G (p.Lys350Glu)
c.940A>G (p.Lys314Glu)
dbSNP
2g.224503789T>GCA350827656CUL3c.1240A>C (p.Lys414Gln)
c.1042A>C (p.Lys348Gln)
c.1168A>C (p.Lys390Gln)
n.536A>C
c.-37A>C (n.-37A>C)
c.1258A>C (p.Lys420Gln)
c.1207A>C (p.Lys403Gln)
c.1093A>C (p.Lys365Gln)
c.1198A>C (p.Lys400Gln)
c.1048A>C (p.Lys350Gln)
c.940A>C (p.Lys314Gln)
2g.224503789_224503790delinsTACA1331555955CUL3c.1239_1240delinsTA (p.Asp413=)
c.1041_1042delinsTA (p.Asp347=)
c.1167_1168delinsTA (p.Asp389=)
n.535_536delinsTA
c.-38_-37delinsTA (n.-38_-37delinsTA)
c.1257_1258delinsTA (p.Asp419=)
c.1206_1207delinsTA (p.Asp402=)
c.1092_1093delinsTA (p.Asp364=)
c.1197_1198delinsTA (p.Asp399=)
c.1047_1048delinsTA (p.Asp349=)
c.939_940delinsTA (p.Asp313=)
2g.224503790delCA1139655021CUL3c.1239del (p.Asp413GlufsTer?)
c.1041del (p.Asp347GlufsTer?)
c.1167del (p.Asp389GlufsTer?)
n.535del
c.-38del (n.-38del)
c.1257del (p.Asp419GlufsTer?)
c.1206del (p.Asp402GlufsTer?)
c.1092del (p.Asp364GlufsTer?)
c.1197del (p.Asp399GlufsTer?)
c.1047del (p.Asp349GlufsTer?)
c.939del (p.Asp313GlufsTer?)
ClinVar dbSNP
2g.224503790A>CCA350827658CUL3c.1239T>G (p.Asp413Glu)
c.1041T>G (p.Asp347Glu)
c.1167T>G (p.Asp389Glu)
n.535T>G
c.-38T>G (n.-38T>G)
c.1257T>G (p.Asp419Glu)
c.1206T>G (p.Asp402Glu)
c.1092T>G (p.Asp364Glu)
c.1197T>G (p.Asp399Glu)
c.1047T>G (p.Asp349Glu)
c.939T>G (p.Asp313Glu)
2g.224503790A>GCA431492722CUL3c.1239T>C (p.Asp413=)
c.1041T>C (p.Asp347=)
c.1167T>C (p.Asp389=)
n.535T>C
c.-38T>C (n.-38T>C)
c.1257T>C (p.Asp419=)
c.1206T>C (p.Asp402=)
c.1092T>C (p.Asp364=)
c.1197T>C (p.Asp399=)
c.1047T>C (p.Asp349=)
c.939T>C (p.Asp313=)
2g.224503790A>TCA350827659CUL3c.1239T>A (p.Asp413Glu)
c.1041T>A (p.Asp347Glu)
c.1167T>A (p.Asp389Glu)
n.535T>A
c.-38T>A (n.-38T>A)
c.1257T>A (p.Asp419Glu)
c.1206T>A (p.Asp402Glu)
c.1092T>A (p.Asp364Glu)
c.1197T>A (p.Asp399Glu)
c.1047T>A (p.Asp349Glu)
c.939T>A (p.Asp313Glu)
dbSNP
2g.224503791T>ACA350827664CUL3c.1238A>T (p.Asp413Val)
c.1040A>T (p.Asp347Val)
c.1166A>T (p.Asp389Val)
n.534A>T
c.-39A>T (n.-39A>T)
c.1256A>T (p.Asp419Val)
c.1205A>T (p.Asp402Val)
c.1091A>T (p.Asp364Val)
c.1196A>T (p.Asp399Val)
c.1046A>T (p.Asp349Val)
c.938A>T (p.Asp313Val)
2g.224503791T>CCA129109CUL3c.1238A>G (p.Asp413Gly)
c.1040A>G (p.Asp347Gly)
c.1166A>G (p.Asp389Gly)
n.534A>G
c.-39A>G (n.-39A>G)
c.1256A>G (p.Asp419Gly)
c.1205A>G (p.Asp402Gly)
c.1091A>G (p.Asp364Gly)
c.1196A>G (p.Asp399Gly)
c.1046A>G (p.Asp349Gly)
c.938A>G (p.Asp313Gly)
ClinVar dbSNP
2g.224503791T>GCA350827661CUL3c.1238A>C (p.Asp413Ala)
c.1040A>C (p.Asp347Ala)
c.1166A>C (p.Asp389Ala)
n.534A>C
c.-39A>C (n.-39A>C)
c.1256A>C (p.Asp419Ala)
c.1205A>C (p.Asp402Ala)
c.1091A>C (p.Asp364Ala)
c.1196A>C (p.Asp399Ala)
c.1046A>C (p.Asp349Ala)
c.938A>C (p.Asp313Ala)
2g.224503791T=CA1331555956CUL3c.1238A= (p.Asp413=)
c.1040A= (p.Asp347=)
c.1166A= (p.Asp389=)
n.534A=
c.-39A= (n.-39A=)
c.1256A= (p.Asp419=)
c.1205A= (p.Asp402=)
c.1091A= (p.Asp364=)
c.1196A= (p.Asp399=)
c.1046A= (p.Asp349=)
c.938A= (p.Asp313=)
2g.224503792C>ACA350827666CUL3c.1237G>T (p.Asp413Tyr)
c.1039G>T (p.Asp347Tyr)
c.1165G>T (p.Asp389Tyr)
n.533G>T
c.-40G>T (n.-40G>T)
c.1255G>T (p.Asp419Tyr)
c.1204G>T (p.Asp402Tyr)
c.1090G>T (p.Asp364Tyr)
c.1195G>T (p.Asp399Tyr)
c.1045G>T (p.Asp349Tyr)
c.937G>T (p.Asp313Tyr)
dbSNP
2g.224503792C>GCA350827668CUL3c.1237G>C (p.Asp413His)
c.1039G>C (p.Asp347His)
c.1165G>C (p.Asp389His)
n.533G>C
c.-40G>C (n.-40G>C)
c.1255G>C (p.Asp419His)
c.1204G>C (p.Asp402His)
c.1090G>C (p.Asp364His)
c.1195G>C (p.Asp399His)
c.1045G>C (p.Asp349His)
c.937G>C (p.Asp313His)
dbSNP
2g.224503792C>TCA350827669CUL3c.1237G>A (p.Asp413Asn)
c.1039G>A (p.Asp347Asn)
c.1165G>A (p.Asp389Asn)
n.533G>A
c.-40G>A (n.-40G>A)
c.1255G>A (p.Asp419Asn)
c.1204G>A (p.Asp402Asn)
c.1090G>A (p.Asp364Asn)
c.1195G>A (p.Asp399Asn)
c.1045G>A (p.Asp349Asn)
c.937G>A (p.Asp313Asn)
dbSNP
2g.224503793C>ACA350827671CUL3c.1236G>T (p.Leu412Phe)
c.1038G>T (p.Leu346Phe)
c.1164G>T (p.Leu388Phe)
n.532G>T
c.-41G>T (n.-41G>T)
c.1254G>T (p.Leu418Phe)
c.1203G>T (p.Leu401Phe)
c.1089G>T (p.Leu363Phe)
c.1194G>T (p.Leu398Phe)
c.1044G>T (p.Leu348Phe)
c.936G>T (p.Leu312Phe)
dbSNP
2g.224503793C=CA1331555957CUL3c.1236G= (p.Leu412=)
c.1038G= (p.Leu346=)
c.1164G= (p.Leu388=)
n.532G=
c.-41G= (n.-41G=)
c.1254G= (p.Leu418=)
c.1203G= (p.Leu401=)
c.1089G= (p.Leu363=)
c.1194G= (p.Leu398=)
c.1044G= (p.Leu348=)
c.936G= (p.Leu312=)
2g.224503793C>GCA350827673CUL3c.1236G>C (p.Leu412Phe)
c.1038G>C (p.Leu346Phe)
c.1164G>C (p.Leu388Phe)
n.532G>C
c.-41G>C (n.-41G>C)
c.1254G>C (p.Leu418Phe)
c.1203G>C (p.Leu401Phe)
c.1089G>C (p.Leu363Phe)
c.1194G>C (p.Leu398Phe)
c.1044G>C (p.Leu348Phe)
c.936G>C (p.Leu312Phe)
dbSNP
2g.224503793C>TCA269960CUL3c.1236G>A (p.Leu412=)
c.1038G>A (p.Leu346=)
c.1164G>A (p.Leu388=)
n.532G>A
c.-41G>A (n.-41G>A)
c.1254G>A (p.Leu418=)
c.1203G>A (p.Leu401=)
c.1089G>A (p.Leu363=)
c.1194G>A (p.Leu398=)
c.1044G>A (p.Leu348=)
c.936G>A (p.Leu312=)
ClinVar dbSNP
2g.224503794A>CCA350827676CUL3c.1235T>G (p.Leu412Trp)
c.1037T>G (p.Leu346Trp)
c.1163T>G (p.Leu388Trp)
n.531T>G
c.-42T>G (n.-42T>G)
c.1253T>G (p.Leu418Trp)
c.1202T>G (p.Leu401Trp)
c.1088T>G (p.Leu363Trp)
c.1193T>G (p.Leu398Trp)
c.1043T>G (p.Leu348Trp)
c.935T>G (p.Leu312Trp)
2g.224503794A>GCA350827677CUL3c.1235T>C (p.Leu412Ser)
c.1037T>C (p.Leu346Ser)
c.1163T>C (p.Leu388Ser)
n.531T>C
c.-42T>C (n.-42T>C)
c.1253T>C (p.Leu418Ser)
c.1202T>C (p.Leu401Ser)
c.1088T>C (p.Leu363Ser)
c.1193T>C (p.Leu398Ser)
c.1043T>C (p.Leu348Ser)
c.935T>C (p.Leu312Ser)
2g.224503794A>TCA350827679CUL3c.1235T>A (p.Leu412Ter)
c.1037T>A (p.Leu346Ter)
c.1163T>A (p.Leu388Ter)
n.531T>A
c.-42T>A (n.-42T>A)
c.1253T>A (p.Leu418Ter)
c.1202T>A (p.Leu401Ter)
c.1088T>A (p.Leu363Ter)
c.1193T>A (p.Leu398Ter)
c.1043T>A (p.Leu348Ter)
c.935T>A (p.Leu312Ter)
dbSNP
2g.224503795A>CCA350827681CUL3c.1234T>G (p.Leu412Val)
c.1036T>G (p.Leu346Val)
c.1162T>G (p.Leu388Val)
n.530T>G
c.-43T>G (n.-43T>G)
c.1252T>G (p.Leu418Val)
c.1201T>G (p.Leu401Val)
c.1087T>G (p.Leu363Val)
c.1192T>G (p.Leu398Val)
c.1042T>G (p.Leu348Val)
c.934T>G (p.Leu312Val)
2g.224503795A>GCA431492723CUL3c.1234T>C (p.Leu412=)
c.1036T>C (p.Leu346=)
c.1162T>C (p.Leu388=)
n.530T>C
c.-43T>C (n.-43T>C)
c.1252T>C (p.Leu418=)
c.1201T>C (p.Leu401=)
c.1087T>C (p.Leu363=)
c.1192T>C (p.Leu398=)
c.1042T>C (p.Leu348=)
c.934T>C (p.Leu312=)
2g.224503795A>TCA350827683CUL3c.1234T>A (p.Leu412Met)
c.1036T>A (p.Leu346Met)
c.1162T>A (p.Leu388Met)
n.530T>A
c.-43T>A (n.-43T>A)
c.1252T>A (p.Leu418Met)
c.1201T>A (p.Leu401Met)
c.1087T>A (p.Leu363Met)
c.1192T>A (p.Leu398Met)
c.1042T>A (p.Leu348Met)
c.934T>A (p.Leu312Met)
dbSNP
2g.224503796T>ACA431492725CUL3c.1233A>T (p.Ile411=)
c.1035A>T (p.Ile345=)
c.1161A>T (p.Ile387=)
n.529A>T
c.-44A>T (n.-44A>T)
c.1251A>T (p.Ile417=)
c.1200A>T (p.Ile400=)
c.1086A>T (p.Ile362=)
c.1191A>T (p.Ile397=)
c.1041A>T (p.Ile347=)
c.933A>T (p.Ile311=)
dbSNP
2g.224503796T>CCA350827684CUL3c.1233A>G (p.Ile411Met)
c.1035A>G (p.Ile345Met)
c.1161A>G (p.Ile387Met)
n.529A>G
c.-44A>G (n.-44A>G)
c.1251A>G (p.Ile417Met)
c.1200A>G (p.Ile400Met)
c.1086A>G (p.Ile362Met)
c.1191A>G (p.Ile397Met)
c.1041A>G (p.Ile347Met)
c.933A>G (p.Ile311Met)
2g.224503796T>GCA431492724CUL3c.1233A>C (p.Ile411=)
c.1035A>C (p.Ile345=)
c.1161A>C (p.Ile387=)
n.529A>C
c.-44A>C (n.-44A>C)
c.1251A>C (p.Ile417=)
c.1200A>C (p.Ile400=)
c.1086A>C (p.Ile362=)
c.1191A>C (p.Ile397=)
c.1041A>C (p.Ile347=)
c.933A>C (p.Ile311=)
2g.224503797A>CCA350827688CUL3c.1232T>G (p.Ile411Arg)
c.1034T>G (p.Ile345Arg)
c.1160T>G (p.Ile387Arg)
n.528T>G
c.-45T>G (n.-45T>G)
c.1250T>G (p.Ile417Arg)
c.1199T>G (p.Ile400Arg)
c.1085T>G (p.Ile362Arg)
c.1190T>G (p.Ile397Arg)
c.1040T>G (p.Ile347Arg)
c.932T>G (p.Ile311Arg)
2g.224503797A>GCA350827690CUL3c.1232T>C (p.Ile411Thr)
c.1034T>C (p.Ile345Thr)
c.1160T>C (p.Ile387Thr)
n.528T>C
c.-45T>C (n.-45T>C)
c.1250T>C (p.Ile417Thr)
c.1199T>C (p.Ile400Thr)
c.1085T>C (p.Ile362Thr)
c.1190T>C (p.Ile397Thr)
c.1040T>C (p.Ile347Thr)
c.932T>C (p.Ile311Thr)
2g.224503797A>TCA350827686CUL3c.1232T>A (p.Ile411Lys)
c.1034T>A (p.Ile345Lys)
c.1160T>A (p.Ile387Lys)
n.528T>A
c.-45T>A (n.-45T>A)
c.1250T>A (p.Ile417Lys)
c.1199T>A (p.Ile400Lys)
c.1085T>A (p.Ile362Lys)
c.1190T>A (p.Ile397Lys)
c.1040T>A (p.Ile347Lys)
c.932T>A (p.Ile311Lys)
2g.224503798T>ACA350827692CUL3c.1231A>T (p.Ile411Leu)
c.1033A>T (p.Ile345Leu)
c.1159A>T (p.Ile387Leu)
n.527A>T
c.-46A>T (n.-46A>T)
c.1249A>T (p.Ile417Leu)
c.1198A>T (p.Ile400Leu)
c.1084A>T (p.Ile362Leu)
c.1189A>T (p.Ile397Leu)
c.1039A>T (p.Ile347Leu)
c.931A>T (p.Ile311Leu)
dbSNP
2g.224503798T>CCA350827693CUL3c.1231A>G (p.Ile411Val)
c.1033A>G (p.Ile345Val)
c.1159A>G (p.Ile387Val)
n.527A>G
c.-46A>G (n.-46A>G)
c.1249A>G (p.Ile417Val)
c.1198A>G (p.Ile400Val)
c.1084A>G (p.Ile362Val)
c.1189A>G (p.Ile397Val)
c.1039A>G (p.Ile347Val)
c.931A>G (p.Ile311Val)
2g.224503798T>GCA350827694CUL3c.1231A>C (p.Ile411Leu)
c.1033A>C (p.Ile345Leu)
c.1159A>C (p.Ile387Leu)
n.527A>C
c.-46A>C (n.-46A>C)
c.1249A>C (p.Ile417Leu)
c.1198A>C (p.Ile400Leu)
c.1084A>C (p.Ile362Leu)
c.1189A>C (p.Ile397Leu)
c.1039A>C (p.Ile347Leu)
c.931A>C (p.Ile311Leu)
2g.224503798_224503799dupCA2663372490CUL3c.1230_1231dup (p.Ile411LysfsTer?)
c.1032_1033dup (p.Ile345LysfsTer?)
c.1158_1159dup (p.Ile387LysfsTer?)
n.526_527dup
c.-47_-46dup (n.-47_-46dup)
c.1248_1249dup (p.Ile417LysfsTer?)
c.1197_1198dup (p.Ile400LysfsTer?)
c.1083_1084dup (p.Ile362LysfsTer?)
c.1188_1189dup (p.Ile397LysfsTer?)
c.1038_1039dup (p.Ile347LysfsTer?)
c.930_931dup (p.Ile311LysfsTer?)
gnomAD v4
2g.224503799T>ACA431492726CUL3c.1230A>T (p.Thr410=)
c.1032A>T (p.Thr344=)
c.1158A>T (p.Thr386=)
n.526A>T
c.-47A>T (n.-47A>T)
c.1248A>T (p.Thr416=)
c.1197A>T (p.Thr399=)
c.1083A>T (p.Thr361=)
c.1188A>T (p.Thr396=)
c.1038A>T (p.Thr346=)
c.930A>T (p.Thr310=)
2g.224503799T>CCA2140021CUL3c.1230A>G (p.Thr410=)
c.1032A>G (p.Thr344=)
c.1158A>G (p.Thr386=)
n.526A>G
c.-47A>G (n.-47A>G)
c.1248A>G (p.Thr416=)
c.1197A>G (p.Thr399=)
c.1083A>G (p.Thr361=)
c.1188A>G (p.Thr396=)
c.1038A>G (p.Thr346=)
c.930A>G (p.Thr310=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503799T>GCA431492727CUL3c.1230A>C (p.Thr410=)
c.1032A>C (p.Thr344=)
c.1158A>C (p.Thr386=)
n.526A>C
c.-47A>C (n.-47A>C)
c.1248A>C (p.Thr416=)
c.1197A>C (p.Thr399=)
c.1083A>C (p.Thr361=)
c.1188A>C (p.Thr396=)
c.1038A>C (p.Thr346=)
c.930A>C (p.Thr310=)
2g.224503799T=CA1331555958CUL3c.1230A= (p.Thr410=)
c.1032A= (p.Thr344=)
c.1158A= (p.Thr386=)
n.526A=
c.-47A= (n.-47A=)
c.1248A= (p.Thr416=)
c.1197A= (p.Thr399=)
c.1083A= (p.Thr361=)
c.1188A= (p.Thr396=)
c.1038A= (p.Thr346=)
c.930A= (p.Thr310=)
2g.224503800G>ACA2140022CUL3c.1229C>T (p.Thr410Ile)
c.1031C>T (p.Thr344Ile)
c.1157C>T (p.Thr386Ile)
n.525C>T
c.-48C>T (n.-48C>T)
c.1247C>T (p.Thr416Ile)
c.1196C>T (p.Thr399Ile)
c.1082C>T (p.Thr361Ile)
c.1187C>T (p.Thr396Ile)
c.1037C>T (p.Thr346Ile)
c.929C>T (p.Thr310Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503800G>CCA350827697CUL3c.1229C>G (p.Thr410Arg)
c.1031C>G (p.Thr344Arg)
c.1157C>G (p.Thr386Arg)
n.525C>G
c.-48C>G (n.-48C>G)
c.1247C>G (p.Thr416Arg)
c.1196C>G (p.Thr399Arg)
c.1082C>G (p.Thr361Arg)
c.1187C>G (p.Thr396Arg)
c.1037C>G (p.Thr346Arg)
c.929C>G (p.Thr310Arg)
dbSNP
2g.224503800G=CA1331555959CUL3c.1229C= (p.Thr410=)
c.1031C= (p.Thr344=)
c.1157C= (p.Thr386=)
n.525C=
c.-48C= (n.-48C=)
c.1247C= (p.Thr416=)
c.1196C= (p.Thr399=)
c.1082C= (p.Thr361=)
c.1187C= (p.Thr396=)
c.1037C= (p.Thr346=)
c.929C= (p.Thr310=)
2g.224503800G>TCA350827699CUL3c.1229C>A (p.Thr410Lys)
c.1031C>A (p.Thr344Lys)
c.1157C>A (p.Thr386Lys)
n.525C>A
c.-48C>A (n.-48C>A)
c.1247C>A (p.Thr416Lys)
c.1196C>A (p.Thr399Lys)
c.1082C>A (p.Thr361Lys)
c.1187C>A (p.Thr396Lys)
c.1037C>A (p.Thr346Lys)
c.929C>A (p.Thr310Lys)
dbSNP gnomAD v4

Number of alleles fetched