ClinVar Miner

List of variants in gene CDC73 reported as uncertain significance for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 566
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00042
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00024
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00022
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00008
NM_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
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.*1599A>G rs543573271 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00006
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
NM_024529.5(CDC73):c.*1074A>T rs886045718 0.00004
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00004
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024529.5(CDC73):c.*2963A>G rs886045731 0.00003
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_024529.5(CDC73):c.305C>T (p.Ala102Val) rs778134705 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 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.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1076C>T (p.Thr359Ile) rs1677294864 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1105A>G (p.Thr369Ala) rs762532730 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.116A>G (p.Asn39Ser) rs746972930 0.00001
NM_024529.5(CDC73):c.1184A>G (p.Gln395Arg) rs374856513 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.1255A>G (p.Ile419Val) rs1198867364 0.00001
NM_024529.5(CDC73):c.1351G>A (p.Ala451Thr) rs1553291414 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.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1559+4A>G rs1001095861 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.199G>A (p.Val67Met) rs748952219 0.00001
NM_024529.5(CDC73):c.303A>C (p.Glu101Asp) rs372978307 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.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.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.625A>C (p.Lys209Gln) rs1455683303 0.00001
NM_024529.5(CDC73):c.668A>G (p.Asp223Gly) rs776394390 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.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.823C>T (p.Pro275Ser) rs758391256 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.856A>G (p.Ile286Val) rs1362923384 0.00001
NC_000001.10:g.(?_193091331)_(193099383_?)dup
NC_000001.10:g.(?_193091331)_(193111206_?)dup
NC_000001.10:g.(?_193172905)_(193219842_?)dup
NC_000001.10:g.(?_193172915)_(193219842_?)dup
NC_000001.10:g.(?_193181185)_(193219842_?)dup
NC_000001.10:g.(?_193202113)_(193219842_?)del
NC_000001.10:g.(?_193202113)_(193219842_?)dup
NC_000001.10:g.(?_193218850)_(193219852_?)dup
NC_000001.11:g.(?_193122191)_(193152454_?)dup
NC_000001.11:g.(?_193122201)_(193125227_?)dup
NC_000001.11:g.(?_193122201)_(193152454_?)dup
NC_000001.11:g.(?_193147857)_(193152454_?)del
NC_000001.11:g.(?_193203785)_(193250722_?)dup
NC_000001.11:g.(?_193249724)_(193250718_?)del
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1296C>G rs1269411417
NM_024529.5(CDC73):c.*1303A>G rs886045723
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*2131A>T rs886045728
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3086C>T rs886045733
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*94A>G rs547969893
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1003C>A (p.Pro335Thr) rs779180488
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser) rs779180488
NM_024529.5(CDC73):c.1004C>G (p.Pro335Arg) rs1476163101
NM_024529.5(CDC73):c.1004C>T (p.Pro335Leu)
NM_024529.5(CDC73):c.1006G>T (p.Ala336Ser) rs2103178083
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.100A>C (p.Lys34Gln)
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>A (p.Pro339Gln)
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.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>C (p.Lys34Asn)
NM_024529.5(CDC73):c.1038A>T (p.Gln346His) rs2102038062
NM_024529.5(CDC73):c.1039G>T (p.Ala347Ser) rs1553288361
NM_024529.5(CDC73):c.1040C>T (p.Ala347Val) rs1677289364
NM_024529.5(CDC73):c.1045C>A (p.Pro349Thr)
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.104A>G (p.Asn35Ser)
NM_024529.5(CDC73):c.1052C>T (p.Pro351Leu) rs1677289653
NM_024529.5(CDC73):c.1054A>C (p.Asn352His) rs1677289702
NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)
NM_024529.5(CDC73):c.1055A>G (p.Asn352Ser) rs1677289748
NM_024529.5(CDC73):c.1065A>C (p.Lys355Asn) rs1677289784
NM_024529.5(CDC73):c.1066+3G>A rs2102038126
NM_024529.5(CDC73):c.1067-3T>A rs1572202351
NM_024529.5(CDC73):c.1067G>T (p.Gly356Val) rs2102038477
NM_024529.5(CDC73):c.1069T>C (p.Ser357Pro)
NM_024529.5(CDC73):c.1070C>G (p.Ser357Cys) rs2102038479
NM_024529.5(CDC73):c.1075A>G (p.Thr359Ala) rs1060500010
NM_024529.5(CDC73):c.1078C>T (p.Pro360Ser) rs770734388
NM_024529.5(CDC73):c.1079C>G (p.Pro360Arg)
NM_024529.5(CDC73):c.1079C>T (p.Pro360Leu) rs1677295002
NM_024529.5(CDC73):c.1087A>G (p.Ile363Val) rs2102038517
NM_024529.5(CDC73):c.1096G>A (p.Ala366Thr) rs2102038531
NM_024529.5(CDC73):c.10G>C (p.Val4Leu) rs1675463101
NM_024529.5(CDC73):c.1100C>G (p.Ala367Gly)
NM_024529.5(CDC73):c.1102A>G (p.Thr368Ala)
NM_024529.5(CDC73):c.1102A>T (p.Thr368Ser) rs1358233620
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile) rs2102038553
NM_024529.5(CDC73):c.110A>G (p.Lys37Arg) rs890428520
NM_024529.5(CDC73):c.1112T>C (p.Leu371Ser) rs2102038560
NM_024529.5(CDC73):c.1114A>C (p.Ile372Leu)
NM_024529.5(CDC73):c.111G>C (p.Lys37Asn) rs1355286253
NM_024529.5(CDC73):c.1120A>G (p.Met374Val) rs2102038567
NM_024529.5(CDC73):c.1129G>A (p.Ala377Thr) rs1677295843
NM_024529.5(CDC73):c.1129G>C (p.Ala377Pro)
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
NM_024529.5(CDC73):c.1132A>G (p.Lys378Glu) rs1677295923
NM_024529.5(CDC73):c.1138C>T (p.Leu380Phe)
NM_024529.5(CDC73):c.1147G>C (p.Asp383His)
NM_024529.5(CDC73):c.1149C>G (p.Asp383Glu)
NM_024529.5(CDC73):c.1150C>G (p.Leu384Val) rs377215814
NM_024529.5(CDC73):c.1154+9T>G
NM_024529.5(CDC73):c.1155-17T>G
NM_024529.5(CDC73):c.1155A>G (p.Lys385=) rs1572215260
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
NM_024529.5(CDC73):c.1162C>G (p.Pro388Ala) rs1470371131
NM_024529.5(CDC73):c.1162C>T (p.Pro388Ser)
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu) rs2102058240
NM_024529.5(CDC73):c.1165T>A (p.Ser389Thr) rs1677687458
NM_024529.5(CDC73):c.1168G>C (p.Asp390His) rs1677687568
NM_024529.5(CDC73):c.1171G>A (p.Glu391Lys) rs2102058252
NM_024529.5(CDC73):c.1176G>C (p.Lys392Asn) rs767993995
NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del) rs1677687636
NM_024529.5(CDC73):c.1184A>T (p.Gln395Leu) rs374856513
NM_024529.5(CDC73):c.1186G>A (p.Gly396Ser) rs866793539
NM_024529.5(CDC73):c.1187G>A (p.Gly396Asp)
NM_024529.5(CDC73):c.1187G>T (p.Gly396Val)
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
NM_024529.5(CDC73):c.1193A>G (p.Gln398Arg) rs878855088
NM_024529.5(CDC73):c.1193A>T (p.Gln398Leu) rs878855088
NM_024529.5(CDC73):c.1195C>G (p.Arg399Gly) rs1677688362
NM_024529.5(CDC73):c.1196G>A (p.Arg399Gln)
NM_024529.5(CDC73):c.119A>G (p.Tyr40Cys) rs1019931450
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
NM_024529.5(CDC73):c.1202_1207del (p.Asn401_Glu402del)
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile) rs1677688538
NM_024529.5(CDC73):c.121G>C (p.Val41Leu)
NM_024529.5(CDC73):c.121GTT[1] (p.Val42del) rs2103111771
NM_024529.5(CDC73):c.1220G>A (p.Arg407Lys) rs1572215316
NM_024529.5(CDC73):c.1222A>G (p.Arg408Gly) rs1677688718
NM_024529.5(CDC73):c.1225A>C (p.Lys409Gln)
NM_024529.5(CDC73):c.1232A>C (p.Gln411Pro) rs1242516197
NM_024529.5(CDC73):c.1234A>C (p.Met412Leu) rs752959843
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu) rs752959843
NM_024529.5(CDC73):c.1237C>G (p.Gln413Glu) rs1553291031
NM_024529.5(CDC73):c.1238A>C (p.Gln413Pro)
NM_024529.5(CDC73):c.1240C>T (p.Pro414Ser) rs1297552782
NM_024529.5(CDC73):c.1241C>T (p.Pro414Leu)
NM_024529.5(CDC73):c.1246G>C (p.Gly416Arg) rs2102058377
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.1252G>A (p.Ala418Thr)
NM_024529.5(CDC73):c.1274A>G (p.Tyr425Cys) rs1677690233
NM_024529.5(CDC73):c.1276A>G (p.Arg426Gly) rs2102058411
NM_024529.5(CDC73):c.1279G>A (p.Val427Ile) rs2102058420
NM_024529.5(CDC73):c.1282G>A (p.Val428Ile)
NM_024529.5(CDC73):c.1283T>C (p.Val428Ala)
NM_024529.5(CDC73):c.1294C>T (p.Leu432Phe) rs2102058450
NM_024529.5(CDC73):c.1303A>G (p.Met435Val)
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+11_131+12delinsAC
NM_024529.5(CDC73):c.1310A>T (p.Gln437Leu) rs2102058489
NM_024529.5(CDC73):c.1313A>T (p.Asp438Val)
NM_024529.5(CDC73):c.1316+4A>G rs2102058500
NM_024529.5(CDC73):c.1316+6A>T rs2102058502
NM_024529.5(CDC73):c.131G>T (p.Gly44Val)
NM_024529.5(CDC73):c.1321C>G (p.Arg441Gly)
NM_024529.5(CDC73):c.1321C>T (p.Arg441Cys)
NM_024529.5(CDC73):c.1322G>A (p.Arg441His) rs778432682
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1328T>G (p.Val443Gly)
NM_024529.5(CDC73):c.1330G>A (p.Ala444Thr)
NM_024529.5(CDC73):c.1336T>C (p.Phe446Leu)
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
NM_024529.5(CDC73):c.1344G>T (p.Gln448His)
NM_024529.5(CDC73):c.1364A>G (p.Lys455Arg) rs1444457760
NM_024529.5(CDC73):c.1378C>T (p.Leu460Phe)
NM_024529.5(CDC73):c.1381T>G (p.Leu461Val)
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1385C>G (p.Pro462Arg) rs1572217735
NM_024529.5(CDC73):c.1387G>A (p.Asp463Asn)
NM_024529.5(CDC73):c.1396C>A (p.Pro466Thr)
NM_024529.5(CDC73):c.1399G>A (p.Val467Ile)
NM_024529.5(CDC73):c.13C>T (p.Leu5Phe) rs1296841626
NM_024529.5(CDC73):c.1402G>T (p.Asp468Tyr) rs1677757493
NM_024529.5(CDC73):c.1406T>C (p.Ile469Thr) rs1677757603
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu) rs1677757689
NM_024529.5(CDC73):c.1417+5G>T rs2102061922
NM_024529.5(CDC73):c.1418-3T>C rs1678015232
NM_024529.5(CDC73):c.1432C>G (p.Leu478Val) rs1060500025
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp) rs1553292962
NM_024529.5(CDC73):c.1441G>T (p.Asp481Tyr) rs1678015613
NM_024529.5(CDC73):c.1444G>A (p.Glu482Lys) rs2102073303
NM_024529.5(CDC73):c.144A>C (p.Glu48Asp) rs2103113897
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
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.1462A>C (p.Asn488His)
NM_024529.5(CDC73):c.1463A>G (p.Asn488Ser)
NM_024529.5(CDC73):c.1465G>C (p.Val489Leu) rs2102073378
NM_024529.5(CDC73):c.1469A>G (p.Gln490Arg) rs2102073385
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.1480G>A (p.Val494Ile) rs1199025166
NM_024529.5(CDC73):c.1483A>G (p.Thr495Ala) rs1558326136
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
NM_024529.5(CDC73):c.148C>G (p.Gln50Glu) rs2103113904
NM_024529.5(CDC73):c.149A>G (p.Gln50Arg) rs1276311364
NM_024529.5(CDC73):c.1501T>C (p.Tyr501His) rs1553292970
NM_024529.5(CDC73):c.1510C>T (p.Arg504Cys) rs1292596060
NM_024529.5(CDC73):c.1513C>T (p.His505Tyr) rs1558326147
NM_024529.5(CDC73):c.1519G>T (p.Asp507Tyr) rs1678017026
NM_024529.5(CDC73):c.151C>T (p.Pro51Ser) rs540541696
NM_024529.5(CDC73):c.1520A>T (p.Asp507Val) rs2102073531
NM_024529.5(CDC73):c.1521T>C (p.Asp507=) rs1476554322
NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)
NM_024529.5(CDC73):c.1528G>A (p.Val510Met)
NM_024529.5(CDC73):c.1528G>C (p.Val510Leu)
NM_024529.5(CDC73):c.1529T>C (p.Val510Ala) rs2102073560
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.1550C>A (p.Thr517Lys)
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+16A>G rs2102073684
NM_024529.5(CDC73):c.1559+4A>T rs1001095861
NM_024529.5(CDC73):c.1560G>A (p.Arg520=) rs1487870537
NM_024529.5(CDC73):c.1564A>T (p.Met522Leu) rs751152405
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.1576A>G (p.Lys526Glu)
NM_024529.5(CDC73):c.1586del (p.His528_Leu529insTer) rs1368184407
NM_024529.5(CDC73):c.1587G>C (p.Leu529Phe)
NM_024529.5(CDC73):c.158A>G (p.Glu53Gly) rs1572142551
NM_024529.5(CDC73):c.1592T>G (p.Phe531Cys)
NM_024529.5(CDC73):c.1594T>G (p.Ter532Gly)
NM_024529.5(CDC73):c.164A>G (p.Tyr55Cys) rs2103113933
NM_024529.5(CDC73):c.166A>C (p.Thr56Pro)
NM_024529.5(CDC73):c.16A>G (p.Ser6Gly)
NM_024529.5(CDC73):c.178A>G (p.Ile60Val) rs1572142567
NM_024529.5(CDC73):c.178A>T (p.Ile60Phe)
NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)
NM_024529.5(CDC73):c.187C>G (p.Leu63Val)
NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
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.196A>T (p.Asn66Tyr)
NM_024529.5(CDC73):c.202C>T (p.His68Tyr)
NM_024529.5(CDC73):c.203A>C (p.His68Pro)
NM_024529.5(CDC73):c.205C>G (p.Leu69Val) rs1675543142
NM_024529.5(CDC73):c.205C>T (p.Leu69Phe) rs1675543142
NM_024529.5(CDC73):c.211C>G (p.His71Asp) rs2103114010
NM_024529.5(CDC73):c.221A>G (p.Tyr74Cys)
NM_024529.5(CDC73):c.229C>T (p.Arg77Cys)
NM_024529.5(CDC73):c.230G>A (p.Arg77His) rs1572142617
NM_024529.5(CDC73):c.230G>C (p.Arg77Pro) rs1572142617
NM_024529.5(CDC73):c.230G>T (p.Arg77Leu)
NM_024529.5(CDC73):c.233C>G (p.Ala78Gly)
NM_024529.5(CDC73):c.235G>A (p.Ala79Thr)
NM_024529.5(CDC73):c.237+5G>A rs1675543609
NM_024529.5(CDC73):c.238-14A>G rs2103117745
NM_024529.5(CDC73):c.238-6T>A rs1675669973
NM_024529.5(CDC73):c.238A>G (p.Thr80Ala) rs2103117767
NM_024529.5(CDC73):c.244A>G (p.Asn82Asp) rs2103117785
NM_024529.5(CDC73):c.250C>T (p.Pro84Ser) rs754686636
NM_024529.5(CDC73):c.252T>A (p.Pro84=)
NM_024529.5(CDC73):c.258T>C (p.Val86=) rs1060500023
NM_024529.5(CDC73):c.26G>A (p.Arg9Gln) rs2103111603
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
NM_024529.5(CDC73):c.284T>C (p.Leu95Pro) rs2103117916
NM_024529.5(CDC73):c.295A>G (p.Asn99Asp) rs2103117949
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser) rs1060500017
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.299G>A (p.Gly100Asp)
NM_024529.5(CDC73):c.29A>G (p.Gln10Arg)
NM_024529.5(CDC73):c.29A>T (p.Gln10Leu) rs2103111611
NM_024529.5(CDC73):c.301G>A (p.Glu101Lys) rs772376553
NM_024529.5(CDC73):c.304G>A (p.Ala102Thr) rs1675671504
NM_024529.5(CDC73):c.304G>T (p.Ala102Ser) rs1675671504
NM_024529.5(CDC73):c.305C>G (p.Ala102Gly)
NM_024529.5(CDC73):c.307+3G>A
NM_024529.5(CDC73):c.307+5G>A
NM_024529.5(CDC73):c.307+5G>C
NM_024529.5(CDC73):c.307+5G>T rs2103117996
NM_024529.5(CDC73):c.307+9T>G
NM_024529.5(CDC73):c.307T>C (p.Ser103Pro) rs1675671751
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser) rs1675773683
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.316G>A (p.Ala106Thr)
NM_024529.5(CDC73):c.319A>G (p.Ser107Gly) rs1374821216
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.326A>T (p.Asp109Val)
NM_024529.5(CDC73):c.342A>C (p.Leu114Phe) rs1675774810
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
NM_024529.5(CDC73):c.349G>A (p.Gly117Ser) rs1675774944
NM_024529.5(CDC73):c.34A>C (p.Asn12His)
NM_024529.5(CDC73):c.34A>G (p.Asn12Asp)
NM_024529.5(CDC73):c.359G>A (p.Arg120Gln) rs2103121520
NM_024529.5(CDC73):c.359G>C (p.Arg120Pro)
NM_024529.5(CDC73):c.369A>G (p.Gln123=)
NM_024529.5(CDC73):c.370+3A>G
NM_024529.5(CDC73):c.371-5TA[3] rs1553278836
NM_024529.5(CDC73):c.371-6T>A rs1060500024
NM_024529.5(CDC73):c.374A>C (p.Lys125Thr) rs1455915064
NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)
NM_024529.5(CDC73):c.377G>A (p.Arg126Gln) rs1675777366
NM_024529.5(CDC73):c.379G>A (p.Ala127Thr) rs1675777420
NM_024529.5(CDC73):c.37A>G (p.Ile13Val) rs762220544
NM_024529.5(CDC73):c.37A>T (p.Ile13Phe)
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.388G>A (p.Glu130Lys)
NM_024529.5(CDC73):c.398C>G (p.Ala133Gly)
NM_024529.5(CDC73):c.39C>G (p.Ile13Met)
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.412C>G (p.Pro138Ala)
NM_024529.5(CDC73):c.413C>T (p.Pro138Leu) rs2103121717
NM_024529.5(CDC73):c.419T>G (p.Ile140Ser) rs1675778444
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+18_423+19insTTTTTTTTNNNNNNN rs2103121762
NM_024529.5(CDC73):c.423+6G>A
NM_024529.5(CDC73):c.423+6G>T
NM_024529.5(CDC73):c.423G>A (p.Glu141=) rs1291044007
NM_024529.5(CDC73):c.424-12G>A
NM_024529.5(CDC73):c.424-14G>A
NM_024529.5(CDC73):c.424-15A>G
NM_024529.5(CDC73):c.430G>A (p.Glu144Lys) rs1558283535
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>C (p.Val146Leu)
NM_024529.5(CDC73):c.43AAG[1] (p.Lys16del) rs1572139757
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys) rs2103123773
NM_024529.5(CDC73):c.467G>A (p.Arg156His) rs1572152406
NM_024529.5(CDC73):c.46A>G (p.Lys16Glu) rs1675464429
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)
NM_024529.5(CDC73):c.497A>T (p.Gln166Leu)
NM_024529.5(CDC73):c.512+3A>C rs1558283570
NM_024529.5(CDC73):c.512+4A>C
NM_024529.5(CDC73):c.512+6A>C
NM_024529.5(CDC73):c.512+6A>G
NM_024529.5(CDC73):c.513-10T>C
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
NM_024529.5(CDC73):c.52A>G (p.Ile18Val)
NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)
NM_024529.5(CDC73):c.55G>A (p.Val19Met) rs1060500013
NM_024529.5(CDC73):c.584C>G (p.Ser195Cys)
NM_024529.5(CDC73):c.596C>G (p.Thr199Ser)
NM_024529.5(CDC73):c.599A>G (p.Asp200Gly)
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
NM_024529.5(CDC73):c.613A>G (p.Ile205Val)
NM_024529.5(CDC73):c.617C>G (p.Thr206Ser)
NM_024529.5(CDC73):c.619G>A (p.Ala207Thr) rs1060500016
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
NM_024529.5(CDC73):c.63G>T (p.Lys21Asn)
NM_024529.5(CDC73):c.640G>A (p.Val214Met) rs1675913675
NM_024529.5(CDC73):c.644A>C (p.Asp215Ala)
NM_024529.5(CDC73):c.646G>C (p.Ala216Pro)
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.65G>A (p.Gly22Glu)
NM_024529.5(CDC73):c.65G>C (p.Gly22Ala) rs1675465059
NM_024529.5(CDC73):c.665G>A (p.Arg222Gln) rs1572154825
NM_024529.5(CDC73):c.670A>G (p.Ile224Val) rs1675914120
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly) rs2103126362
NM_024529.5(CDC73):c.684G>C (p.Glu228Asp) rs368708158
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.688G>A (p.Val230Ile) rs2103126383
NM_024529.5(CDC73):c.689T>A (p.Val230Glu) rs1558285020
NM_024529.5(CDC73):c.689T>C (p.Val230Ala) rs1558285020
NM_024529.5(CDC73):c.691T>C (p.Trp231Arg) rs1060500022
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120
NM_024529.5(CDC73):c.703A>G (p.Thr235Ala) rs2103126444
NM_024529.5(CDC73):c.707C>T (p.Thr236Ile)
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.710T>C (p.Ile237Thr)
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala) rs1572154890
NM_024529.5(CDC73):c.725G>A (p.Gly242Glu)
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.729+3A>G
NM_024529.5(CDC73):c.729+5T>C
NM_024529.5(CDC73):c.729G>C (p.Lys243Asn) rs2103126521
NM_024529.5(CDC73):c.730-5T>C rs2103130512
NM_024529.5(CDC73):c.730A>G (p.Asn244Asp)
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.745A>G (p.Ile249Val)
NM_024529.5(CDC73):c.746T>C (p.Ile249Thr) rs973863694
NM_024529.5(CDC73):c.748T>A (p.Phe250Ile) rs2103130536
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
NM_024529.5(CDC73):c.751G>A (p.Ala251Thr) rs1676029137
NM_024529.5(CDC73):c.752C>G (p.Ala251Gly) rs2103130541
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg) rs2103130545
NM_024529.5(CDC73):c.762A>C (p.Gln254His)
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
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.779AAG[1] (p.Glu261del)
NM_024529.5(CDC73):c.794C>A (p.Pro265His)
NM_024529.5(CDC73):c.794C>G (p.Pro265Arg)
NM_024529.5(CDC73):c.79T>C (p.Phe27Leu)
NM_024529.5(CDC73):c.800A>G (p.Gln267Arg) rs2103130586
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro) rs750706815
NM_024529.5(CDC73):c.805C>A (p.Pro269Thr) rs1572158663
NM_024529.5(CDC73):c.805C>T (p.Pro269Ser) rs1572158663
NM_024529.5(CDC73):c.809C>A (p.Ala270Asp) rs981067363
NM_024529.5(CDC73):c.809_826del (p.Ala270_Pro275del)
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.811C>T (p.Pro271Ser) rs765029460
NM_024529.5(CDC73):c.812C>G (p.Pro271Arg)
NM_024529.5(CDC73):c.814A>G (p.Asn272Asp)
NM_024529.5(CDC73):c.815A>T (p.Asn272Ile) rs752383339
NM_024529.5(CDC73):c.816T>G (p.Asn272Lys) rs2103130616
NM_024529.5(CDC73):c.817GCA[1] (p.Ala274del)
NM_024529.5(CDC73):c.818C>T (p.Ala273Val) rs2103130620
NM_024529.5(CDC73):c.828+4A>G rs777621924
NM_024529.5(CDC73):c.828G>A (p.Val276=) rs1558287563
NM_024529.5(CDC73):c.829-12A>G
NM_024529.5(CDC73):c.832C>A (p.Pro278Thr)
NM_024529.5(CDC73):c.833C>A (p.Pro278His) rs1676083095
NM_024529.5(CDC73):c.833C>T (p.Pro278Leu) rs1676083095
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024529.5(CDC73):c.838T>A (p.Leu280Met)
NM_024529.5(CDC73):c.83G>A (p.Gly28Glu)
NM_024529.5(CDC73):c.83G>C (p.Gly28Ala) rs1054465259
NM_024529.5(CDC73):c.842G>T (p.Arg281Leu)
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>G (p.Lys283Glu) rs1572160304
NM_024529.5(CDC73):c.848A>C (p.Lys283Thr) rs1676083588
NM_024529.5(CDC73):c.850C>G (p.Gln284Glu)
NM_024529.5(CDC73):c.852G>C (p.Gln284His) rs773602413
NM_024529.5(CDC73):c.853C>G (p.Pro285Ala)
NM_024529.5(CDC73):c.860C>T (p.Pro287Leu) rs1131691352
NM_024529.5(CDC73):c.865G>A (p.Ala289Thr)
NM_024529.5(CDC73):c.872A>G (p.Asn291Ser) rs2103132204
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.881A>G (p.Asp294Gly) rs1572160332
NM_024529.5(CDC73):c.892T>G (p.Phe298Val) rs1676084476
NM_024529.5(CDC73):c.893T>C (p.Phe298Ser)
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.907+2C>T
NM_024529.5(CDC73):c.907+4A>G rs768964233
NM_024529.5(CDC73):c.907+6T>A rs2103132269
NM_024529.5(CDC73):c.908-10T>A rs1676129844
NM_024529.5(CDC73):c.910A>G (p.Thr304Ala)
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp) rs2103133623
NM_024529.5(CDC73):c.922A>C (p.Lys308Gln)
NM_024529.5(CDC73):c.923A>C (p.Lys308Thr)
NM_024529.5(CDC73):c.923A>G (p.Lys308Arg) rs376649069
NM_024529.5(CDC73):c.92C>A (p.Ser31Tyr) rs1558276199
NM_024529.5(CDC73):c.92C>T (p.Ser31Phe)
NM_024529.5(CDC73):c.965C>G (p.Ser322Cys) rs1676130837
NM_024529.5(CDC73):c.972+3A>G rs1676130958
NM_024529.5(CDC73):c.972G>A (p.Thr324=) rs369930569
NM_024529.5(CDC73):c.973-6T>C rs1677131770
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser) rs2103178025
NM_024529.5(CDC73):c.979G>C (p.Ala327Pro)
NM_024529.5(CDC73):c.980C>T (p.Ala327Val) rs1677131810
NM_024529.5(CDC73):c.985G>A (p.Ala329Thr)
NM_024529.5(CDC73):c.985G>T (p.Ala329Ser) rs1436120903
NM_024529.5(CDC73):c.988C>T (p.Arg330Trp) rs1244272523
NM_024529.5(CDC73):c.989G>T (p.Arg330Leu) rs149875598
NM_024529.5(CDC73):c.990G>T (p.Arg330=) rs1677132126
NM_024529.5(CDC73):c.993G>C (p.Lys331Asn)
NM_024529.5(CDC73):c.994A>T (p.Thr332Ser) rs1572196406

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