ClinVar Miner

List of variants in gene CDC73 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 726
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_024529.5(CDC73):c.873C>T (p.Asn291=) rs149400412 0.00036
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_024529.5(CDC73):c.371-4A>G rs374021222 0.00011
NM_024529.5(CDC73):c.684G>A (p.Glu228=) rs368708158 0.00010
NM_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00008
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.648T>A (p.Ala216=) rs143149579 0.00007
NM_024529.5(CDC73):c.333C>T (p.Ser111=) rs374834265 0.00006
NM_024529.5(CDC73):c.879C>T (p.Tyr293=) rs199551585 0.00006
NM_024529.5(CDC73):c.1031-5C>T rs746118697 0.00005
NM_024529.5(CDC73):c.1150C>T (p.Leu384=) rs377215814 0.00005
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024529.5(CDC73):c.762A>G (p.Gln254=) rs141847473 0.00004
NM_024529.5(CDC73):c.908-5C>T rs200475944 0.00004
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.1418-4A>G rs1269877061 0.00003
NM_024529.5(CDC73):c.1581G>A (p.Ser527=) rs141013612 0.00003
NM_024529.5(CDC73):c.216T>C (p.Pro72=) rs560439847 0.00003
NM_024529.5(CDC73):c.305C>T (p.Ala102Val) rs778134705 0.00003
NM_024529.5(CDC73):c.438G>A (p.Val146=) rs755468043 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 0.00002
NM_024529.5(CDC73):c.1179G>A (p.Lys393=) rs200738107 0.00002
NM_024529.5(CDC73):c.1511G>A (p.Arg504His) rs759222387 0.00002
NM_024529.5(CDC73):c.1564A>G (p.Met522Val) rs751152405 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_024529.5(CDC73):c.27A>G (p.Arg9=) rs763452834 0.00002
NM_024529.5(CDC73):c.306G>A (p.Ala102=) rs141131532 0.00002
NM_024529.5(CDC73):c.432G>A (p.Glu144=) rs934976346 0.00002
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.789T>G (p.Arg263=) rs761846181 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024529.5(CDC73):c.93C>T (p.Ser31=) rs550111539 0.00002
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.1031-3C>T rs770103860 0.00001
NM_024529.5(CDC73):c.1047T>G (p.Pro349=) rs1225995248 0.00001
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1067-4A>G rs749519719 0.00001
NM_024529.5(CDC73):c.1067-4del rs758036472 0.00001
NM_024529.5(CDC73):c.1074A>G (p.Arg358=) rs3203682 0.00001
NM_024529.5(CDC73):c.1076C>T (p.Thr359Ile) rs1677294864 0.00001
NM_024529.5(CDC73):c.1080C>G (p.Pro360=) rs1211967086 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.111G>A (p.Lys37=) rs1355286253 0.00001
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 0.00001
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu) rs587778167 0.00001
NM_024529.5(CDC73):c.1153A>C (p.Lys385Gln) rs762203137 0.00001
NM_024529.5(CDC73):c.1167A>C (p.Ser389=) rs762138528 0.00001
NM_024529.5(CDC73):c.116A>G (p.Asn39Ser) rs746972930 0.00001
NM_024529.5(CDC73):c.1184A>G (p.Gln395Arg) rs374856513 0.00001
NM_024529.5(CDC73):c.1194A>G (p.Gln398=) rs1325048946 0.00001
NM_024529.5(CDC73):c.1215A>T (p.Ile405=) rs765427308 0.00001
NM_024529.5(CDC73):c.1234A>G (p.Met412Val) rs752959843 0.00001
NM_024529.5(CDC73):c.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.1254A>C (p.Ala418=) rs1364135790 0.00001
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val) rs1198867364 0.00001
NM_024529.5(CDC73):c.1269A>G (p.Val423=) rs745826358 0.00001
NM_024529.5(CDC73):c.1287C>T (p.Asp429=) rs756002639 0.00001
NM_024529.5(CDC73):c.1308T>A (p.Pro436=) rs991835494 0.00001
NM_024529.5(CDC73):c.131+4A>G rs878855089 0.00001
NM_024529.5(CDC73):c.1359G>A (p.Gln453=) rs1572217729 0.00001
NM_024529.5(CDC73):c.1374A>G (p.Pro458=) rs1257938148 0.00001
NM_024529.5(CDC73):c.138A>T (p.Gly46=) rs1572142522 0.00001
NM_024529.5(CDC73):c.1405A>G (p.Ile469Val) rs1252554973 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1451G>A (p.Arg484His) rs774557338 0.00001
NM_024529.5(CDC73):c.1453C>G (p.Leu485Val) rs761968225 0.00001
NM_024529.5(CDC73):c.1461A>C (p.Pro487=) rs1214206363 0.00001
NM_024529.5(CDC73):c.1464T>C (p.Asn488=) rs1001791306 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1551A>G (p.Thr517=) rs752668844 0.00001
NM_024529.5(CDC73):c.1552T>C (p.Leu518=) rs758050507 0.00001
NM_024529.5(CDC73):c.1572G>A (p.Lys524=) rs988984386 0.00001
NM_024529.5(CDC73):c.1574A>G (p.His525Arg) rs188778681 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.1580C>T (p.Ser527Leu) rs767254478 0.00001
NM_024529.5(CDC73):c.1595G>A (p.Ter532=) rs1358200605 0.00001
NM_024529.5(CDC73):c.187C>T (p.Leu63=) rs779704449 0.00001
NM_024529.5(CDC73):c.198C>T (p.Asn66=) rs1216098981 0.00001
NM_024529.5(CDC73):c.199G>A (p.Val67Met) rs748952219 0.00001
NM_024529.5(CDC73):c.204C>T (p.His68=) rs1052345208 0.00001
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
NM_024529.5(CDC73):c.228A>G (p.Arg76=) rs978907694 0.00001
NM_024529.5(CDC73):c.273A>C (p.Arg91=) rs1675670810 0.00001
NM_024529.5(CDC73):c.280C>T (p.Leu94=) rs747811573 0.00001
NM_024529.5(CDC73):c.288A>G (p.Gly96=) rs144194535 0.00001
NM_024529.5(CDC73):c.315G>A (p.Ser105=) rs771258964 0.00001
NM_024529.5(CDC73):c.318A>C (p.Ala106=) rs1415842827 0.00001
NM_024529.5(CDC73):c.322A>G (p.Ile108Val) rs1475793228 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.36C>T (p.Asn12=) rs1238773294 0.00001
NM_024529.5(CDC73):c.371-5T>C rs968260282 0.00001
NM_024529.5(CDC73):c.372C>G (p.Val124=) rs746368285 0.00001
NM_024529.5(CDC73):c.382G>A (p.Ala128Thr) rs756584058 0.00001
NM_024529.5(CDC73):c.391G>A (p.Val131Ile) rs769052041 0.00001
NM_024529.5(CDC73):c.416G>A (p.Arg139Gln) rs1675778391 0.00001
NM_024529.5(CDC73):c.429A>G (p.Glu143=) rs1258202181 0.00001
NM_024529.5(CDC73):c.489G>A (p.Gly163=) rs776075865 0.00001
NM_024529.5(CDC73):c.498G>A (p.Gln166=) rs1553279087 0.00001
NM_024529.5(CDC73):c.501T>C (p.Thr167=) rs200603992 0.00001
NM_024529.5(CDC73):c.519G>A (p.Leu173=) rs749039338 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.546T>C (p.Ile182=) rs1478351190 0.00001
NM_024529.5(CDC73):c.552A>C (p.Ala184=) rs1170697980 0.00001
NM_024529.5(CDC73):c.609T>C (p.Asp203=) rs1160145790 0.00001
NM_024529.5(CDC73):c.625A>C (p.Lys209Gln) rs1455683303 0.00001
NM_024529.5(CDC73):c.654A>G (p.Val218=) rs1675913850 0.00001
NM_024529.5(CDC73):c.668A>G (p.Asp223Gly) rs776394390 0.00001
NM_024529.5(CDC73):c.690A>G (p.Val230=) rs190156691 0.00001
NM_024529.5(CDC73):c.754A>G (p.Ile252Val) rs374290883 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.788G>A (p.Arg263His) rs1307745420 0.00001
NM_024529.5(CDC73):c.78C>T (p.Ile26=) rs1675465371 0.00001
NM_024529.5(CDC73):c.794C>T (p.Pro265Leu) rs1335804597 0.00001
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln) rs750706815 0.00001
NM_024529.5(CDC73):c.806C>G (p.Pro269Arg) rs370333081 0.00001
NM_024529.5(CDC73):c.815A>G (p.Asn272Ser) rs752383339 0.00001
NM_024529.5(CDC73):c.822A>G (p.Ala274=) rs927001605 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.825T>C (p.Pro275=) rs945631446 0.00001
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys) rs754070093 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NM_024529.5(CDC73):c.84G>A (p.Gly28=) rs780205664 0.00001
NM_024529.5(CDC73):c.856A>G (p.Ile286Val) rs1362923384 0.00001
NM_024529.5(CDC73):c.889A>C (p.Arg297=) rs748954863 0.00001
NM_024529.5(CDC73):c.908-4G>T rs748472788 0.00001
NM_024529.5(CDC73):c.933T>A (p.Thr311=) rs1409062093 0.00001
NM_024529.5(CDC73):c.987C>T (p.Ala329=) rs1037572907 0.00001
NM_024529.4:c.1031-96_1031-95insL1
NM_024529.5(CDC73):c.-1G>T
NM_024529.5(CDC73):c.-2A>G rs1572139644
NM_024529.5(CDC73):c.-2dup
NM_024529.5(CDC73):c.-3A>G
NM_024529.5(CDC73):c.-4G>C
NM_024529.5(CDC73):c.-4G>T
NM_024529.5(CDC73):c.-4del rs545666726
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.-5G>T
NM_024529.5(CDC73):c.1000A>G (p.Thr334Ala)
NM_024529.5(CDC73):c.1000A>T (p.Thr334Ser)
NM_024529.5(CDC73):c.1004C>G (p.Pro335Arg) rs1476163101
NM_024529.5(CDC73):c.1006G>T (p.Ala336Ser) rs2103178083
NM_024529.5(CDC73):c.1007C>T (p.Ala336Val)
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) rs2103178097
NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro) rs993696396
NM_024529.5(CDC73):c.1015C>A (p.Pro339Thr)
NM_024529.5(CDC73):c.1016C>G (p.Pro339Arg) rs1060500018
NM_024529.5(CDC73):c.1016C>T (p.Pro339Leu) rs1060500018
NM_024529.5(CDC73):c.1017A>G (p.Pro339=)
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1021C>A (p.Pro341Thr)
NM_024529.5(CDC73):c.1021C>T (p.Pro341Ser) rs1572196474
NM_024529.5(CDC73):c.102G>A (p.Lys34=)
NM_024529.5(CDC73):c.1030+1G>A
NM_024529.5(CDC73):c.1030+2T>C
NM_024529.5(CDC73):c.1030+5A>C
NM_024529.5(CDC73):c.1036C>A (p.Gln346Lys)
NM_024529.5(CDC73):c.1038A>G (p.Gln346=)
NM_024529.5(CDC73):c.1038A>T (p.Gln346His) rs2102038062
NM_024529.5(CDC73):c.1043G>A (p.Arg348Lys)
NM_024529.5(CDC73):c.1043G>T (p.Arg348Ile)
NM_024529.5(CDC73):c.1046C>T (p.Pro349Leu)
NM_024529.5(CDC73):c.1048C>A (p.Pro350Thr)
NM_024529.5(CDC73):c.1048C>G (p.Pro350Ala)
NM_024529.5(CDC73):c.1048C>T (p.Pro350Ser) rs773264613
NM_024529.5(CDC73):c.1049C>T (p.Pro350Leu) rs2102038095
NM_024529.5(CDC73):c.1050C>T (p.Pro350=)
NM_024529.5(CDC73):c.1052dup (p.Asn352fs)
NM_024529.5(CDC73):c.1053A>G (p.Pro351=)
NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)
NM_024529.5(CDC73):c.1055A>G (p.Asn352Ser) rs1677289748
NM_024529.5(CDC73):c.1059G>A (p.Gln353=)
NM_024529.5(CDC73):c.1063_1066del (p.Lys355fs)
NM_024529.5(CDC73):c.1067-2A>G
NM_024529.5(CDC73):c.1067-4A>C
NM_024529.5(CDC73):c.1067G>T (p.Gly356Val) rs2102038477
NM_024529.5(CDC73):c.1068A>G (p.Gly356=)
NM_024529.5(CDC73):c.1068A>T (p.Gly356=)
NM_024529.5(CDC73):c.1071T>C (p.Ser357=)
NM_024529.5(CDC73):c.1073G>A (p.Arg358Gln)
NM_024529.5(CDC73):c.1073G>C (p.Arg358Pro)
NM_024529.5(CDC73):c.1075A>G (p.Thr359Ala) rs1060500010
NM_024529.5(CDC73):c.1075A>T (p.Thr359Ser)
NM_024529.5(CDC73):c.1078C>A (p.Pro360Thr)
NM_024529.5(CDC73):c.1078C>T (p.Pro360Ser) rs770734388
NM_024529.5(CDC73):c.1080C>T (p.Pro360=) rs1211967086
NM_024529.5(CDC73):c.1086C>G (p.Ile362Met)
NM_024529.5(CDC73):c.1087A>G (p.Ile363Val) rs2102038517
NM_024529.5(CDC73):c.1092T>A (p.Ile364=)
NM_024529.5(CDC73):c.1095T>A (p.Pro365=)
NM_024529.5(CDC73):c.1098A>G (p.Ala366=) rs775127570
NM_024529.5(CDC73):c.109A>G (p.Lys37Glu)
NM_024529.5(CDC73):c.10G>T (p.Val4Leu)
NM_024529.5(CDC73):c.1101T>C (p.Ala367=)
NM_024529.5(CDC73):c.1102A>G (p.Thr368Ala)
NM_024529.5(CDC73):c.1104C>T (p.Thr368=) rs2102038555
NM_024529.5(CDC73):c.1105A>T (p.Thr369Ser)
NM_024529.5(CDC73):c.1106C>T (p.Thr369Ile)
NM_024529.5(CDC73):c.1107C>A (p.Thr369=)
NM_024529.5(CDC73):c.1107C>G (p.Thr369=)
NM_024529.5(CDC73):c.1119C>T (p.Thr373=) rs1015188625
NM_024529.5(CDC73):c.1120A>G (p.Met374Val) rs2102038567
NM_024529.5(CDC73):c.1121T>C (p.Met374Thr)
NM_024529.5(CDC73):c.1129G>A (p.Ala377Thr) rs1677295843
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
NM_024529.5(CDC73):c.1131A>T (p.Ala377=)
NM_024529.5(CDC73):c.1135G>C (p.Asp379His)
NM_024529.5(CDC73):c.1135G>T (p.Asp379Tyr)
NM_024529.5(CDC73):c.1137C>T (p.Asp379=)
NM_024529.5(CDC73):c.1141C>T (p.Leu381=)
NM_024529.5(CDC73):c.1143A>G (p.Leu381=) rs1384414870
NM_024529.5(CDC73):c.1146G>A (p.Gln382=)
NM_024529.5(CDC73):c.1148A>G (p.Asp383Gly)
NM_024529.5(CDC73):c.1149C>G (p.Asp383Glu)
NM_024529.5(CDC73):c.1152G>C (p.Leu384=)
NM_024529.5(CDC73):c.1154A>G (p.Lys385Arg)
NM_024529.5(CDC73):c.1155-3A>G rs1060500014
NM_024529.5(CDC73):c.1155-5C>T
NM_024529.5(CDC73):c.1155A>G (p.Lys385=) rs1572215260
NM_024529.5(CDC73):c.1158T>A (p.Phe386Leu)
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
NM_024529.5(CDC73):c.1161C>G (p.Val387=)
NM_024529.5(CDC73):c.1161C>T (p.Val387=) rs1572215263
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu) rs2102058240
NM_024529.5(CDC73):c.1164A>G (p.Pro388=) rs1572215267
NM_024529.5(CDC73):c.1171G>T (p.Glu391Ter)
NM_024529.5(CDC73):c.1172A>G (p.Glu391Gly)
NM_024529.5(CDC73):c.1176G>A (p.Lys392=) rs767993995
NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del) rs1677687636
NM_024529.5(CDC73):c.1177A>C (p.Lys393Gln)
NM_024529.5(CDC73):c.1182A>G (p.Lys394=) rs2102058268
NM_024529.5(CDC73):c.1184A>T (p.Gln395Leu) rs374856513
NM_024529.5(CDC73):c.1187G>A (p.Gly396Asp)
NM_024529.5(CDC73):c.1187G>T (p.Gly396Val)
NM_024529.5(CDC73):c.1188T>C (p.Gly396=) rs1205766785
NM_024529.5(CDC73):c.1189T>C (p.Cys397Arg)
NM_024529.5(CDC73):c.1195C>A (p.Arg399=)
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.1196G>A (p.Arg399Gln)
NM_024529.5(CDC73):c.1207A>G (p.Thr403Ala)
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile) rs1677688538
NM_024529.5(CDC73):c.1212A>G (p.Leu404=) rs552978336
NM_024529.5(CDC73):c.1219A>G (p.Arg407Gly)
NM_024529.5(CDC73):c.1220G>A (p.Arg407Lys) rs1572215316
NM_024529.5(CDC73):c.1226A>G (p.Lys409Arg)
NM_024529.5(CDC73):c.1226_1230del (p.Lys409fs)
NM_024529.5(CDC73):c.1230C>T (p.Asp410=)
NM_024529.5(CDC73):c.1232A>C (p.Gln411Pro) rs1242516197
NM_024529.5(CDC73):c.1233G>A (p.Gln411=)
NM_024529.5(CDC73):c.1233G>C (p.Gln411His)
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu) rs752959843
NM_024529.5(CDC73):c.1240C>G (p.Pro414Ala)
NM_024529.5(CDC73):c.1240C>T (p.Pro414Ser) rs1297552782
NM_024529.5(CDC73):c.1241C>T (p.Pro414Leu)
NM_024529.5(CDC73):c.1245G>T (p.Gly415=)
NM_024529.5(CDC73):c.1246G>T (p.Gly416Cys)
NM_024529.5(CDC73):c.1247G>C (p.Gly416Ala) rs1553291033
NM_024529.5(CDC73):c.1249A>C (p.Thr417Pro) rs1572215351
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala) rs1572215351
NM_024529.5(CDC73):c.1259G>C (p.Ser420Thr)
NM_024529.5(CDC73):c.126T>C (p.Val42=) rs1675466558
NM_024529.5(CDC73):c.1274A>G (p.Tyr425Cys) rs1677690233
NM_024529.5(CDC73):c.1275T>C (p.Tyr425=)
NM_024529.5(CDC73):c.1276A>C (p.Arg426=)
NM_024529.5(CDC73):c.1276A>G (p.Arg426Gly) rs2102058411
NM_024529.5(CDC73):c.1278A>G (p.Arg426=) rs1677690277
NM_024529.5(CDC73):c.127T>C (p.Trp43Arg)
NM_024529.5(CDC73):c.1284A>G (p.Val428=)
NM_024529.5(CDC73):c.1285G>C (p.Asp429His)
NM_024529.5(CDC73):c.1290G>A (p.Gln430=) rs1336120271
NM_024529.5(CDC73):c.1293C>G (p.Pro431=)
NM_024529.5(CDC73):c.1299A>G (p.Lys433=)
NM_024529.5(CDC73):c.1300C>T (p.Leu434Phe)
NM_024529.5(CDC73):c.1303A>G (p.Met435Val)
NM_024529.5(CDC73):c.1304T>A (p.Met435Lys)
NM_024529.5(CDC73):c.1304T>G (p.Met435Arg)
NM_024529.5(CDC73):c.1306C>A (p.Pro436Thr)
NM_024529.5(CDC73):c.1307C>G (p.Pro436Arg) rs1344996460
NM_024529.5(CDC73):c.1307C>T (p.Pro436Leu) rs1344996460
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+3A>G
NM_024529.5(CDC73):c.131+4A>T
NM_024529.5(CDC73):c.1310A>G (p.Gln437Arg)
NM_024529.5(CDC73):c.1311A>T (p.Gln437His)
NM_024529.5(CDC73):c.1314C>T (p.Asp438=)
NM_024529.5(CDC73):c.1317-3T>C
NM_024529.5(CDC73):c.1317-4G>A
NM_024529.5(CDC73):c.1317-4G>C
NM_024529.5(CDC73):c.1317-5T>C
NM_024529.5(CDC73):c.1321C>G (p.Arg441Gly)
NM_024529.5(CDC73):c.1322G>A (p.Arg441His) rs778432682
NM_024529.5(CDC73):c.1323C>A (p.Arg441=)
NM_024529.5(CDC73):c.1323C>G (p.Arg441=)
NM_024529.5(CDC73):c.1323C>T (p.Arg441=) rs747780211
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1329A>G (p.Val443=)
NM_024529.5(CDC73):c.132G>T (p.Gly44=)
NM_024529.5(CDC73):c.1332C>A (p.Ala444=)
NM_024529.5(CDC73):c.1332C>T (p.Ala444=) rs1060503808
NM_024529.5(CDC73):c.1335T>G (p.Val445=)
NM_024529.5(CDC73):c.1337T>C (p.Phe446Ser)
NM_024529.5(CDC73):c.1338T>C (p.Phe446=) rs2102061810
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
NM_024529.5(CDC73):c.1341G>A (p.Val447=) rs771409544
NM_024529.5(CDC73):c.1341G>T (p.Val447=)
NM_024529.5(CDC73):c.1348C>T (p.Pro450Ser)
NM_024529.5(CDC73):c.1350T>C (p.Pro450=) rs2102061831
NM_024529.5(CDC73):c.1353A>C (p.Ala451=)
NM_024529.5(CDC73):c.1353A>G (p.Ala451=) rs1677756910
NM_024529.5(CDC73):c.135T>C (p.Thr45=)
NM_024529.5(CDC73):c.1364A>G (p.Lys455Arg) rs1444457760
NM_024529.5(CDC73):c.1367_1417+426dup
NM_024529.5(CDC73):c.1370G>A (p.Trp457Ter)
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1386T>C (p.Pro462=)
NM_024529.5(CDC73):c.1387G>A (p.Asp463Asn)
NM_024529.5(CDC73):c.1392A>C (p.Gly464=)
NM_024529.5(CDC73):c.1392A>G (p.Gly464=)
NM_024529.5(CDC73):c.1392A>T (p.Gly464=)
NM_024529.5(CDC73):c.1394C>T (p.Ser465Leu)
NM_024529.5(CDC73):c.1394_1398del (p.Ser465fs)
NM_024529.5(CDC73):c.1395A>C (p.Ser465=)
NM_024529.5(CDC73):c.13C>A (p.Leu5Ile)
NM_024529.5(CDC73):c.1402G>T (p.Asp468Tyr) rs1677757493
NM_024529.5(CDC73):c.1407A>C (p.Ile469=)
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu) rs1677757689
NM_024529.5(CDC73):c.1417+4A>G
NM_024529.5(CDC73):c.1418-1_1420del
NM_024529.5(CDC73):c.1418-3T>C rs1678015232
NM_024529.5(CDC73):c.1418T>C (p.Ile473Thr)
NM_024529.5(CDC73):c.141G>A (p.Lys47=)
NM_024529.5(CDC73):c.1422A>G (p.Lys474=)
NM_024529.5(CDC73):c.1425C>T (p.Ala475=) rs1572226219
NM_024529.5(CDC73):c.1431T>C (p.His477=) rs2102073261
NM_024529.5(CDC73):c.1432C>T (p.Leu478=)
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp) rs1553292962
NM_024529.5(CDC73):c.1439A>G (p.Tyr480Cys)
NM_024529.5(CDC73):c.1441G>C (p.Asp481His)
NM_024529.5(CDC73):c.1443T>C (p.Asp481=)
NM_024529.5(CDC73):c.1444G>A (p.Glu482Lys) rs2102073303
NM_024529.5(CDC73):c.1446A>G (p.Glu482=)
NM_024529.5(CDC73):c.144A>G (p.Glu48=) rs2103113897
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024529.5(CDC73):c.1452T>C (p.Arg484=)
NM_024529.5(CDC73):c.1453C>T (p.Leu485=) rs761968225
NM_024529.5(CDC73):c.1458T>C (p.Asp486=)
NM_024529.5(CDC73):c.145G>T (p.Gly49Cys) rs200806263
NM_024529.5(CDC73):c.1460C>T (p.Pro487Leu) rs1678015855
NM_024529.5(CDC73):c.1463A>G (p.Asn488Ser)
NM_024529.5(CDC73):c.1463A>T (p.Asn488Ile)
NM_024529.5(CDC73):c.1465G>A (p.Val489Ile)
NM_024529.5(CDC73):c.1469A>G (p.Gln490Arg) rs2102073385
NM_024529.5(CDC73):c.146G>C (p.Gly49Ala)
NM_024529.5(CDC73):c.1470G>A (p.Gln490=)
NM_024529.5(CDC73):c.1470G>C (p.Gln490His)
NM_024529.5(CDC73):c.1471A>G (p.Lys491Glu) rs2102073386
NM_024529.5(CDC73):c.1472A>T (p.Lys491Ile) rs2102073388
NM_024529.5(CDC73):c.1476G>C (p.Trp492Cys) rs2102073392
NM_024529.5(CDC73):c.147C>T (p.Gly49=) rs1310600802
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile) rs1199025166
NM_024529.5(CDC73):c.1480_1481dup (p.Val494_Thr495insTer)
NM_024529.5(CDC73):c.1482A>G (p.Val494=) rs1286819904
NM_024529.5(CDC73):c.1488A>G (p.Val496=) rs2102073439
NM_024529.5(CDC73):c.1491A>G (p.Leu497=) rs1448322761
NM_024529.5(CDC73):c.1495C>G (p.Leu499Val)
NM_024529.5(CDC73):c.1501T>C (p.Tyr501His) rs1553292970
NM_024529.5(CDC73):c.1502A>G (p.Tyr501Cys)
NM_024529.5(CDC73):c.1505A>G (p.His502Arg)
NM_024529.5(CDC73):c.1506C>G (p.His502Gln)
NM_024529.5(CDC73):c.1510C>T (p.Arg504Cys) rs1292596060
NM_024529.5(CDC73):c.1511G>C (p.Arg504Pro)
NM_024529.5(CDC73):c.1512T>C (p.Arg504=)
NM_024529.5(CDC73):c.1513C>T (p.His505Tyr) rs1558326147
NM_024529.5(CDC73):c.1521T>C (p.Asp507=) rs1476554322
NM_024529.5(CDC73):c.1523G>A (p.Arg508Lys)
NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)
NM_024529.5(CDC73):c.1527A>G (p.Pro509=) rs765271361
NM_024529.5(CDC73):c.1533C>A (p.Phe511Leu)
NM_024529.5(CDC73):c.1533C>T (p.Phe511=)
NM_024529.5(CDC73):c.1536A>G (p.Leu512=)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.1549A>G (p.Thr517Ala)
NM_024529.5(CDC73):c.1550C>T (p.Thr517Ile) rs1678017409
NM_024529.5(CDC73):c.1558A>G (p.Arg520Gly) rs1553292974
NM_024529.5(CDC73):c.1559+4A>T rs1001095861
NM_024529.5(CDC73):c.1560-4dup rs761016442
NM_024529.5(CDC73):c.1560G>A (p.Arg520=) rs1487870537
NM_024529.5(CDC73):c.1562A>G (p.Tyr521Cys)
NM_024529.5(CDC73):c.1564A>C (p.Met522Leu)
NM_024529.5(CDC73):c.1565T>C (p.Met522Thr)
NM_024529.5(CDC73):c.1566G>A (p.Met522Ile)
NM_024529.5(CDC73):c.1567G>T (p.Val523Leu) rs1558326418
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.157_173del (p.Glu53fs)
NM_024529.5(CDC73):c.1581G>T (p.Ser527=) rs141013612
NM_024529.5(CDC73):c.1586del (p.His528_Leu529insTer) rs1368184407
NM_024529.5(CDC73):c.1590A>G (p.Arg530=) rs1456447381
NM_024529.5(CDC73):c.1593C>T (p.Phe531=)
NM_024529.5(CDC73):c.159G>A (p.Glu53=) rs2103113918
NM_024529.5(CDC73):c.15T>G (p.Leu5=) rs2103111572
NM_024529.5(CDC73):c.161A>G (p.Tyr54Cys)
NM_024529.5(CDC73):c.161A>T (p.Tyr54Phe)
NM_024529.5(CDC73):c.162C>T (p.Tyr54=) rs121434265
NM_024529.5(CDC73):c.166A>C (p.Thr56Pro)
NM_024529.5(CDC73):c.168A>G (p.Thr56=)
NM_024529.5(CDC73):c.168A>T (p.Thr56=) rs2103113949
NM_024529.5(CDC73):c.169T>C (p.Leu57=)
NM_024529.5(CDC73):c.169T>G (p.Leu57Val)
NM_024529.5(CDC73):c.178A>G (p.Ile60Val) rs1572142567
NM_024529.5(CDC73):c.17G>A (p.Ser6Asn)
NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)
NM_024529.5(CDC73):c.189A>G (p.Leu63=) rs1675542629
NM_024529.5(CDC73):c.18C>T (p.Ser6=) rs564726032
NM_024529.5(CDC73):c.192T>A (p.Leu64=)
NM_024529.5(CDC73):c.192T>C (p.Leu64=) rs1675542758
NM_024529.5(CDC73):c.192T>G (p.Leu64=)
NM_024529.5(CDC73):c.193A>C (p.Asn65His) rs2103113994
NM_024529.5(CDC73):c.196A>G (p.Asn66Asp) rs1675542823
NM_024529.5(CDC73):c.204C>G (p.His68Gln)
NM_024529.5(CDC73):c.206T>C (p.Leu69Pro)
NM_024529.5(CDC73):c.212A>C (p.His71Pro)
NM_024529.5(CDC73):c.213T>C (p.His71=)
NM_024529.5(CDC73):c.21C>T (p.Val7=) rs769522707
NM_024529.5(CDC73):c.221A>G (p.Tyr74Cys)
NM_024529.5(CDC73):c.225C>A (p.Val75=) rs1327944866
NM_024529.5(CDC73):c.225C>T (p.Val75=) rs1327944866
NM_024529.5(CDC73):c.227G>A (p.Arg76Gln)
NM_024529.5(CDC73):c.22C>T (p.Leu8=) rs1366872937
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.238-1G>T
NM_024529.5(CDC73):c.238A>G (p.Thr80Ala) rs2103117767
NM_024529.5(CDC73):c.240T>C (p.Thr80=)
NM_024529.5(CDC73):c.241G>A (p.Glu81Lys)
NM_024529.5(CDC73):c.249T>C (p.Ile83=)
NM_024529.5(CDC73):c.24G>A (p.Leu8=)
NM_024529.5(CDC73):c.250C>G (p.Pro84Ala)
NM_024529.5(CDC73):c.252T>A (p.Pro84=)
NM_024529.5(CDC73):c.255G>A (p.Val85=)
NM_024529.5(CDC73):c.256G>A (p.Val86Ile)
NM_024529.5(CDC73):c.259A>C (p.Arg87=)
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.261A>C (p.Arg87Ser)
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
NM_024529.5(CDC73):c.270T>A (p.Asp90Glu)
NM_024529.5(CDC73):c.273A>T (p.Arg91=)
NM_024529.5(CDC73):c.277G>C (p.Asp93His)
NM_024529.5(CDC73):c.280C>G (p.Leu94Val)
NM_024529.5(CDC73):c.284T>G (p.Leu95Arg)
NM_024529.5(CDC73):c.285T>G (p.Leu95=) rs1572146653
NM_024529.5(CDC73):c.294C>A (p.Leu98=)
NM_024529.5(CDC73):c.294C>G (p.Leu98=)
NM_024529.5(CDC73):c.294C>T (p.Leu98=) rs1675671233
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser) rs1060500017
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.2T>C (p.Met1Thr) rs1553277483
NM_024529.5(CDC73):c.304G>T (p.Ala102Ser) rs1675671504
NM_024529.5(CDC73):c.305C>G (p.Ala102Gly)
NM_024529.5(CDC73):c.306G>C (p.Ala102=)
NM_024529.5(CDC73):c.307+2T>A
NM_024529.5(CDC73):c.307T>G (p.Ser103Ala)
NM_024529.5(CDC73):c.308-3C>T
NM_024529.5(CDC73):c.30G>A (p.Gln10=) rs764533991
NM_024529.5(CDC73):c.310A>G (p.Thr104Ala)
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser) rs1675773683
NM_024529.5(CDC73):c.311C>T (p.Thr104Ile)
NM_024529.5(CDC73):c.312A>G (p.Thr104=) rs747337987
NM_024529.5(CDC73):c.314C>G (p.Ser105Trp)
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.316G>A (p.Ala106Thr)
NM_024529.5(CDC73):c.318A>G (p.Ala106=)
NM_024529.5(CDC73):c.319A>G (p.Ser107Gly) rs1374821216
NM_024529.5(CDC73):c.31T>C (p.Tyr11His)
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.334G>A (p.Ala112Thr) rs952579366
NM_024529.5(CDC73):c.339C>G (p.Pro113=)
NM_024529.5(CDC73):c.342A>C (p.Leu114Phe) rs1675774810
NM_024529.5(CDC73):c.346A>G (p.Ile116Val)
NM_024529.5(CDC73):c.347T>C (p.Ile116Thr)
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
NM_024529.5(CDC73):c.34A>C (p.Asn12His)
NM_024529.5(CDC73):c.352C>A (p.Leu118Ile)
NM_024529.5(CDC73):c.353T>C (p.Leu118Pro)
NM_024529.5(CDC73):c.357G>A (p.Gln119=) rs2103121514
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) rs1572150469
NM_024529.5(CDC73):c.359G>A (p.Arg120Gln) rs2103121520
NM_024529.5(CDC73):c.359G>C (p.Arg120Pro)
NM_024529.5(CDC73):c.35A>G (p.Asn12Ser)
NM_024529.5(CDC73):c.361T>C (p.Ser121Pro)
NM_024529.5(CDC73):c.363T>C (p.Ser121=)
NM_024529.5(CDC73):c.365C>G (p.Thr122Ser)
NM_024529.5(CDC73):c.366T>C (p.Thr122=) rs2103121532
NM_024529.5(CDC73):c.370+5G>A
NM_024529.5(CDC73):c.371-4A>C
NM_024529.5(CDC73):c.375A>G (p.Lys125=) rs1572150593
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.379G>A (p.Ala127Thr) rs1675777420
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.386A>G (p.Asp129Gly) rs1675777865
NM_024529.5(CDC73):c.391G>C (p.Val131Leu)
NM_024529.5(CDC73):c.392T>A (p.Val131Asp)
NM_024529.5(CDC73):c.393T>A (p.Val131=) rs1572150622
NM_024529.5(CDC73):c.396A>G (p.Leu132=)
NM_024529.5(CDC73):c.399A>G (p.Ala133=) rs1553278851
NM_024529.5(CDC73):c.401A>G (p.Glu134Gly)
NM_024529.5(CDC73):c.404C>G (p.Ala135Gly) rs1675778193
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.5(CDC73):c.413C>G (p.Pro138Arg)
NM_024529.5(CDC73):c.414A>G (p.Pro138=)
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.419T>C (p.Ile140Thr)
NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)
NM_024529.5(CDC73):c.41A>G (p.Gln14Arg) rs767638609
NM_024529.5(CDC73):c.423+3A>G
NM_024529.5(CDC73):c.423+5A>G
NM_024529.5(CDC73):c.433T>C (p.Cys145Arg) rs1675832296
NM_024529.5(CDC73):c.434G>A (p.Cys145Tyr)
NM_024529.5(CDC73):c.436G>A (p.Val146Met)
NM_024529.5(CDC73):c.444T>C (p.Leu148=)
NM_024529.5(CDC73):c.444T>G (p.Leu148=)
NM_024529.5(CDC73):c.445G>A (p.Asp149Asn)
NM_024529.5(CDC73):c.447T>C (p.Asp149=)
NM_024529.5(CDC73):c.449_452del (p.Lys150fs)
NM_024529.5(CDC73):c.462T>C (p.Ala154=)
NM_024529.5(CDC73):c.465C>G (p.Ala155=) rs559275109
NM_024529.5(CDC73):c.465C>T (p.Ala155=)
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys) rs2103123773
NM_024529.5(CDC73):c.471G>A (p.Leu157=) rs1675832895
NM_024529.5(CDC73):c.472G>C (p.Glu158Gln)
NM_024529.5(CDC73):c.473A>C (p.Glu158Ala)
NM_024529.5(CDC73):c.473A>T (p.Glu158Val)
NM_024529.5(CDC73):c.474G>A (p.Glu158=)
NM_024529.5(CDC73):c.476G>C (p.Gly159Ala)
NM_024529.5(CDC73):c.478C>T (p.His160Tyr)
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.480C>T (p.His160=)
NM_024529.5(CDC73):c.490A>G (p.Ile164Val)
NM_024529.5(CDC73):c.495A>G (p.Val165=) rs2103123800
NM_024529.5(CDC73):c.501T>A (p.Thr167=) rs200603992
NM_024529.5(CDC73):c.504A>G (p.Glu168=)
NM_024529.5(CDC73):c.510del (p.Arg171fs) rs2103123828
NM_024529.5(CDC73):c.512+4A>C
NM_024529.5(CDC73):c.512+5G>A
NM_024529.5(CDC73):c.513-11A>G
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
NM_024529.5(CDC73):c.540A>G (p.Glu180=) rs2103126183
NM_024529.5(CDC73):c.549T>C (p.Ala183=)
NM_024529.5(CDC73):c.54T>A (p.Ile18=)
NM_024529.5(CDC73):c.555C>A (p.Ile185=)
NM_024529.5(CDC73):c.55G>A (p.Val19Met) rs1060500013
NM_024529.5(CDC73):c.561C>G (p.Ala187=)
NM_024529.5(CDC73):c.56T>C (p.Val19Ala)
NM_024529.5(CDC73):c.578A>G (p.Lys193Arg)
NM_024529.5(CDC73):c.579A>G (p.Lys193=)
NM_024529.5(CDC73):c.583T>A (p.Ser195Thr)
NM_024529.5(CDC73):c.58G>A (p.Val20Met)
NM_024529.5(CDC73):c.593A>T (p.Lys198Met)
NM_024529.5(CDC73):c.59T>G (p.Val20Gly)
NM_024529.5(CDC73):c.606T>C (p.Asp202=)
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
NM_024529.5(CDC73):c.608A>G (p.Asp203Gly)
NM_024529.5(CDC73):c.60G>A (p.Val20=) rs1572139778
NM_024529.5(CDC73):c.612C>T (p.Asp204=)
NM_024529.5(CDC73):c.613A>G (p.Ile205Val)
NM_024529.5(CDC73):c.617C>T (p.Thr206Ile)
NM_024529.5(CDC73):c.618T>C (p.Thr206=)
NM_024529.5(CDC73):c.620C>A (p.Ala207Asp)
NM_024529.5(CDC73):c.621C>T (p.Ala207=)
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
NM_024529.5(CDC73):c.638T>G (p.Phe213Cys)
NM_024529.5(CDC73):c.640G>T (p.Val214Leu)
NM_024529.5(CDC73):c.648T>C (p.Ala216=) rs143149579
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.663C>T (p.Thr221=) rs2103126329
NM_024529.5(CDC73):c.664C>G (p.Arg222Gly)
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.665G>A (p.Arg222Gln) rs1572154825
NM_024529.5(CDC73):c.675C>G (p.Val225=)
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly) rs2103126362
NM_024529.5(CDC73):c.678C>T (p.Ser226=)
NM_024529.5(CDC73):c.67G>A (p.Asp23Asn)
NM_024529.5(CDC73):c.682G>C (p.Glu228Gln)
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
NM_024529.5(CDC73):c.687A>G (p.Arg229=) rs1675914685
NM_024529.5(CDC73):c.687A>T (p.Arg229Ser) rs1675914685
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.688G>A (p.Val230Ile) rs2103126383
NM_024529.5(CDC73):c.68A>G (p.Asp23Gly)
NM_024529.5(CDC73):c.690A>T (p.Val230=)
NM_024529.5(CDC73):c.699A>G (p.Thr233=)
NM_024529.5(CDC73):c.69C>A (p.Asp23Glu)
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120
NM_024529.5(CDC73):c.69C>T (p.Asp23=)
NM_024529.5(CDC73):c.6G>A (p.Ala2=)
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024529.5(CDC73):c.701G>A (p.Arg234Gln)
NM_024529.5(CDC73):c.702A>G (p.Arg234=)
NM_024529.5(CDC73):c.706A>G (p.Thr236Ala)
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.70G>A (p.Glu24Lys)
NM_024529.5(CDC73):c.711C>A (p.Ile237=) rs2103126478
NM_024529.5(CDC73):c.715C>G (p.Gln239Glu)
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala) rs1572154890
NM_024529.5(CDC73):c.721A>T (p.Thr241Ser)
NM_024529.5(CDC73):c.728A>G (p.Lys243Arg)
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.729+2681_729+2682delinsGT
NM_024529.5(CDC73):c.729G>A (p.Lys243=)
NM_024529.5(CDC73):c.731A>C (p.Asn244Thr)
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.733T>G (p.Phe245Val) rs2103130516
NM_024529.5(CDC73):c.736T>C (p.Ser246Pro)
NM_024529.5(CDC73):c.738C>T (p.Ser246=) rs2103130522
NM_024529.5(CDC73):c.73G>A (p.Val25Met)
NM_024529.5(CDC73):c.741G>C (p.Lys247Asn)
NM_024529.5(CDC73):c.743A>C (p.Asn248Thr)
NM_024529.5(CDC73):c.746T>C (p.Ile249Thr) rs973863694
NM_024529.5(CDC73):c.750T>C (p.Phe250=)
NM_024529.5(CDC73):c.75G>T (p.Val25=)
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
NM_024529.5(CDC73):c.765T>C (p.Ser255=)
NM_024529.5(CDC73):c.766G>A (p.Val256Ile) rs1472498930
NM_024529.5(CDC73):c.76A>G (p.Ile26Val) rs1675465327
NM_024529.5(CDC73):c.773C>T (p.Ala258Val)
NM_024529.5(CDC73):c.774C>G (p.Ala258=)
NM_024529.5(CDC73):c.774C>T (p.Ala258=) rs1161574170
NM_024529.5(CDC73):c.775A>G (p.Arg259Gly)
NM_024529.5(CDC73):c.777A>G (p.Arg259=)
NM_024529.5(CDC73):c.786G>A (p.Gly262=)
NM_024529.5(CDC73):c.786G>T (p.Gly262=) rs764471804
NM_024529.5(CDC73):c.793C>G (p.Pro265Ala)
NM_024529.5(CDC73):c.795T>C (p.Pro265=) rs1060503804
NM_024529.5(CDC73):c.798A>G (p.Glu266=) rs2103130582
NM_024529.5(CDC73):c.79T>C (p.Phe27Leu)
NM_024529.5(CDC73):c.800A>T (p.Gln267Leu)
NM_024529.5(CDC73):c.801G>A (p.Gln267=)
NM_024529.5(CDC73):c.802C>A (p.Arg268=)
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro) rs750706815
NM_024529.5(CDC73):c.804A>G (p.Arg268=) rs2103130595
NM_024529.5(CDC73):c.804A>T (p.Arg268=) rs2103130595
NM_024529.5(CDC73):c.807T>C (p.Pro269=)
NM_024529.5(CDC73):c.807T>G (p.Pro269=)
NM_024529.5(CDC73):c.808G>A (p.Ala270Thr)
NM_024529.5(CDC73):c.813A>G (p.Pro271=)
NM_024529.5(CDC73):c.815A>T (p.Asn272Ile) rs752383339
NM_024529.5(CDC73):c.816T>C (p.Asn272=)
NM_024529.5(CDC73):c.816T>G (p.Asn272Lys) rs2103130616
NM_024529.5(CDC73):c.818C>G (p.Ala273Gly)
NM_024529.5(CDC73):c.819A>G (p.Ala273=)
NM_024529.5(CDC73):c.81C>T (p.Phe27=)
NM_024529.5(CDC73):c.820G>C (p.Ala274Pro)
NM_024529.5(CDC73):c.825T>G (p.Pro275=)
NM_024529.5(CDC73):c.828+2dup
NM_024529.5(CDC73):c.828+4A>G rs777621924
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024529.5(CDC73):c.835A>T (p.Thr279Ser)
NM_024529.5(CDC73):c.841C>A (p.Arg281Ser)
NM_024529.5(CDC73):c.843C>T (p.Arg281=)
NM_024529.5(CDC73):c.845C>A (p.Thr282Asn)
NM_024529.5(CDC73):c.845C>G (p.Thr282Ser) rs369024183
NM_024529.5(CDC73):c.847A>C (p.Lys283Gln)
NM_024529.5(CDC73):c.847A>G (p.Lys283Glu) rs1572160304
NM_024529.5(CDC73):c.848A>G (p.Lys283Arg)
NM_024529.5(CDC73):c.849A>G (p.Lys283=) rs757206621
NM_024529.5(CDC73):c.850C>G (p.Gln284Glu)
NM_024529.5(CDC73):c.852G>A (p.Gln284=) rs773602413
NM_024529.5(CDC73):c.852G>C (p.Gln284His) rs773602413
NM_024529.5(CDC73):c.853C>G (p.Pro285Ala)
NM_024529.5(CDC73):c.855T>C (p.Pro285=) rs1553280489
NM_024529.5(CDC73):c.865G>A (p.Ala289Thr)
NM_024529.5(CDC73):c.867C>A (p.Ala289=) rs749915144
NM_024529.5(CDC73):c.872A>G (p.Asn291Ser) rs2103132204
NM_024529.5(CDC73):c.87G>A (p.Glu29=) rs752004076
NM_024529.5(CDC73):c.87G>C (p.Glu29Asp) rs752004076
NM_024529.5(CDC73):c.880G>C (p.Asp294His) rs2103132225
NM_024529.5(CDC73):c.882T>C (p.Asp294=) rs112540003
NM_024529.5(CDC73):c.892T>G (p.Phe298Val) rs1676084476
NM_024529.5(CDC73):c.894C>T (p.Phe298=)
NM_024529.5(CDC73):c.897del (p.Gly300fs)
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.908-4G>A rs748472788
NM_024529.5(CDC73):c.90C>T (p.Phe30=) rs2103111735
NM_024529.5(CDC73):c.911C>T (p.Thr304Met)
NM_024529.5(CDC73):c.912G>A (p.Thr304=) rs758730118
NM_024529.5(CDC73):c.912G>T (p.Thr304=) rs758730118
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp) rs2103133623
NM_024529.5(CDC73):c.91T>C (p.Ser31Pro)
NM_024529.5(CDC73):c.921C>T (p.Phe307=)
NM_024529.5(CDC73):c.922A>C (p.Lys308Gln)
NM_024529.5(CDC73):c.923A>T (p.Lys308Ile)
NM_024529.5(CDC73):c.928G>A (p.Asp310Asn)
NM_024529.5(CDC73):c.92C>A (p.Ser31Tyr) rs1558276199
NM_024529.5(CDC73):c.939A>G (p.Gly313=)
NM_024529.5(CDC73):c.942C>G (p.Thr314=)
NM_024529.5(CDC73):c.945C>T (p.Tyr315=) rs1572161610
NM_024529.5(CDC73):c.947A>G (p.His316Arg)
NM_024529.5(CDC73):c.957A>G (p.Thr319=) rs2103133662
NM_024529.5(CDC73):c.963A>G (p.Lys321=)
NM_024529.5(CDC73):c.972+3A>G rs1676130958
NM_024529.5(CDC73):c.972G>A (p.Thr324=) rs369930569
NM_024529.5(CDC73):c.973-5T>A
NM_024529.5(CDC73):c.973-5T>G
NM_024529.5(CDC73):c.975G>A (p.Glu325=)
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser) rs2103178025
NM_024529.5(CDC73):c.977G>C (p.Gly326Ala)
NM_024529.5(CDC73):c.979G>A (p.Ala327Thr)
NM_024529.5(CDC73):c.97C>A (p.Pro33Thr)
NM_024529.5(CDC73):c.981A>C (p.Ala327=)
NM_024529.5(CDC73):c.981A>G (p.Ala327=) rs1263863175
NM_024529.5(CDC73):c.986C>A (p.Ala329Asp)
NM_024529.5(CDC73):c.988C>A (p.Arg330=) rs1244272523
NM_024529.5(CDC73):c.988C>G (p.Arg330Gly)
NM_024529.5(CDC73):c.988C>T (p.Arg330Trp) rs1244272523
NM_024529.5(CDC73):c.990G>A (p.Arg330=)
NM_024529.5(CDC73):c.992A>G (p.Lys331Arg)
NM_024529.5(CDC73):c.997C>G (p.Gln333Glu)
NM_024529.5(CDC73):c.998A>C (p.Gln333Pro)
NM_024529.5(CDC73):c.999G>T (p.Gln333His)
NM_024529.5(CDC73):c.99C>T (p.Pro33=) rs1572139851
NM_024529.5(CDC73):c.9C>T (p.Asp3=) rs746910026

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