NM_024529.5(CDC73):c.1185A>G (p.Gln395=)
|
rs116358657
|
0.00511
|
NM_024529.5(CDC73):c.308-16C>A
|
rs201766013
|
0.00252
|
NM_024529.5(CDC73):c.*12C>A
|
rs193025205
|
0.00196
|
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.513-17A>C
|
rs202192473
|
0.00046
|
NM_024529.5(CDC73):c.873C>T (p.Asn291=)
|
rs149400412
|
0.00036
|
NM_024529.5(CDC73):c.1066+13A>G
|
rs142414871
|
0.00023
|
NM_024529.5(CDC73):c.424-16C>T
|
rs201012067
|
0.00020
|
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.1316+15A>C
|
rs372909512
|
0.00011
|
NM_024529.5(CDC73):c.371-4A>G
|
rs374021222
|
0.00011
|
NM_024529.5(CDC73):c.1066+10T>C
|
rs376113810
|
0.00010
|
NM_024529.5(CDC73):c.684G>A (p.Glu228=)
|
rs368708158
|
0.00010
|
NM_024529.5(CDC73):c.1154+18C>G
|
rs145348897
|
0.00008
|
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.1066+8T>C
|
rs80356647
|
0.00006
|
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.1559+7C>A
|
rs542111225
|
0.00005
|
NM_024529.5(CDC73):c.1154+20A>C
|
rs567786660
|
0.00004
|
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.1031-10T>C
|
rs370349805
|
0.00003
|
NM_024529.5(CDC73):c.1067-8C>T
|
rs780485546
|
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.1418-4A>G
|
rs1269877061
|
0.00003
|
NM_024529.5(CDC73):c.1559+8C>G
|
rs751279026
|
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.729+17del
|
rs776965442
|
0.00003
|
NM_024529.5(CDC73):c.730-7A>G
|
rs745511437
|
0.00003
|
NM_024529.5(CDC73):c.908-7T>C
|
rs367790151
|
0.00003
|
NM_024529.5(CDC73):c.908-8T>C
|
rs754598606
|
0.00003
|
NM_024529.5(CDC73):c.1031-20A>G
|
rs1558312757
|
0.00002
|
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.237+7A>G
|
rs1675543660
|
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.371-7T>C
|
rs757680253
|
0.00002
|
NM_024529.5(CDC73):c.424-11G>C
|
rs1188223298
|
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.729+10A>G
|
rs757532746
|
0.00002
|
NM_024529.5(CDC73):c.789T>G (p.Arg263=)
|
rs761846181
|
0.00002
|
NM_024529.5(CDC73):c.829-13A>C
|
rs760909144
|
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.973-11T>C
|
rs755543878
|
0.00002
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
NM_024529.5(CDC73):c.1030+10T>C
|
rs960030007
|
0.00001
|
NM_024529.5(CDC73):c.1031-18T>G
|
rs1322891058
|
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.1067-9T>C
|
rs1253333879
|
0.00001
|
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter)
|
rs771907995
|
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.1105A>G (p.Thr369Ala)
|
rs762532730
|
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.1154+17A>G
|
rs1677296857
|
0.00001
|
NM_024529.5(CDC73):c.1155-18A>G
|
rs570158564
|
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.1212A>C (p.Leu404=)
|
rs552978336
|
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+10G>T
|
rs745330677
|
0.00001
|
NM_024529.5(CDC73):c.131+14G>C
|
rs374880255
|
0.00001
|
NM_024529.5(CDC73):c.131+17T>C
|
rs748937817
|
0.00001
|
NM_024529.5(CDC73):c.131+4A>G
|
rs878855089
|
0.00001
|
NM_024529.5(CDC73):c.1316+10T>A
|
rs1404967161
|
0.00001
|
NM_024529.5(CDC73):c.1317-6T>C
|
rs1422764501
|
0.00001
|
NM_024529.5(CDC73):c.132-10A>T
|
rs757250113
|
0.00001
|
NM_024529.5(CDC73):c.132-12T>A
|
rs751268088
|
0.00001
|
NM_024529.5(CDC73):c.1351G>A (p.Ala451Thr)
|
rs1553291414
|
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.1559+20A>G
|
rs1281829953
|
0.00001
|
NM_024529.5(CDC73):c.1559+4A>G
|
rs1001095861
|
0.00001
|
NM_024529.5(CDC73):c.1559+9G>A
|
rs1335505407
|
0.00001
|
NM_024529.5(CDC73):c.1560-11del
|
rs772000043
|
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.238-16A>C
|
rs1440236127
|
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.303A>C (p.Glu101Asp)
|
rs372978307
|
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.370+17A>G
|
rs760583012
|
0.00001
|
NM_024529.5(CDC73):c.371-17T>C
|
rs763780849
|
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.423+12G>A
|
rs1442957149
|
0.00001
|
NM_024529.5(CDC73):c.424-17C>A
|
rs750008798
|
0.00001
|
NM_024529.5(CDC73):c.424-7T>C
|
rs370666592
|
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.512+10C>G
|
rs147939077
|
0.00001
|
NM_024529.5(CDC73):c.512+13T>C
|
rs1442435592
|
0.00001
|
NM_024529.5(CDC73):c.513-8G>T
|
rs757366134
|
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.729+18C>T
|
rs767669963
|
0.00001
|
NM_024529.5(CDC73):c.729+20C>T
|
rs750619160
|
0.00001
|
NM_024529.5(CDC73):c.729+7A>G
|
rs1060503807
|
0.00001
|
NM_024529.5(CDC73):c.730-14C>G
|
rs183077646
|
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.829-17A>C
|
rs1676082795
|
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.907+20T>C
|
rs772519117
|
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.972+9A>C
|
rs1266238884
|
0.00001
|
NM_024529.5(CDC73):c.973-15C>T
|
rs1316699413
|
0.00001
|
NM_024529.5(CDC73):c.987C>T (p.Ala329=)
|
rs1037572907
|
0.00001
|
NC_000001.10:g.(?_193091331)_(193099383_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193111206_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193121594_?)del
|
|
|
NC_000001.10:g.(?_193094232)_(193094357_?)del
|
|
|
NC_000001.10:g.(?_193094317)_(193111354_?)del
|
|
|
NC_000001.10:g.(?_193099294)_(193111206_?)del
|
|
|
NC_000001.10:g.(?_193099298)_(193099379_?)del
|
|
|
NC_000001.10:g.(?_193104511)_(193104729_?)del
|
|
|
NC_000001.10:g.(?_193104511)_(193121584_?)dup
|
|
|
NC_000001.10:g.(?_193172905)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193172915)_(193172992_?)del
|
|
|
NC_000001.10:g.(?_193172915)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193172919)_(193205492_?)dup
|
|
|
NC_000001.10:g.(?_193181185)_(193181617_?)del
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)del
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193202113)_(193205496_?)del
|
|
|
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)_(193122341_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193150392_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193125102)_(193130253_?)del
|
|
|
NC_000001.11:g.(?_193130168)_(193135595_?)del
|
|
|
NC_000001.11:g.(?_193130174)_(193130243_?)del
|
|
|
NC_000001.11:g.(?_193135381)_(193138183_?)del
|
|
|
NC_000001.11:g.(?_193147857)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193203785)_(193250722_?)dup
|
|
|
NC_000001.11:g.(?_193236246)_(193236366_?)del
|
|
|
NC_000001.11:g.(?_193249724)_(193250718_?)del
|
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024529.5(CDC73):c.1000A>G (p.Thr334Ala)
|
|
|
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs)
|
rs1677132309
|
|
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.1005T>A (p.Pro335=)
|
rs2103178081
|
|
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.100A>G (p.Lys34Glu)
|
|
|
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>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.1017A>G (p.Pro339=)
|
|
|
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)
|
rs1060500021
|
|
NM_024529.5(CDC73):c.1020A>G (p.Val340=)
|
|
|
NM_024529.5(CDC73):c.1021C>A (p.Pro341Thr)
|
|
|
NM_024529.5(CDC73):c.1021C>T (p.Pro341Ser)
|
rs1572196474
|
|
NM_024529.5(CDC73):c.1023A>G (p.Pro341=)
|
rs2103178122
|
|
NM_024529.5(CDC73):c.1025G>A (p.Arg342Lys)
|
|
|
NM_024529.5(CDC73):c.1026A>G (p.Arg342=)
|
rs770903733
|
|
NM_024529.5(CDC73):c.1027C>A (p.Pro343Thr)
|
|
|
NM_024529.5(CDC73):c.102G>A (p.Lys34=)
|
|
|
NM_024529.5(CDC73):c.102G>C (p.Lys34Asn)
|
|
|
NM_024529.5(CDC73):c.1030+10_1030+11del
|
|
|
NM_024529.5(CDC73):c.1030+12G>A
|
rs1227935949
|
|
NM_024529.5(CDC73):c.1030+12G>T
|
rs1227935949
|
|
NM_024529.5(CDC73):c.1030+14A>C
|
|
|
NM_024529.5(CDC73):c.1030+14A>T
|
|
|
NM_024529.5(CDC73):c.1030+16T>C
|
|
|
NM_024529.5(CDC73):c.1030+19G>A
|
|
|
NM_024529.5(CDC73):c.1030+19del
|
rs2103178144
|
|
NM_024529.5(CDC73):c.1030+20C>G
|
|
|
NM_024529.5(CDC73):c.1030+2T>C
|
|
|
NM_024529.5(CDC73):c.1030+4G>T
|
|
|
NM_024529.5(CDC73):c.1030+7A>C
|
|
|
NM_024529.5(CDC73):c.1030+8T>G
|
rs1035535558
|
|
NM_024529.5(CDC73):c.1030+9A>G
|
|
|
NM_024529.5(CDC73):c.1030+9_1030+10insC
|
rs2103178136
|
|
NM_024529.5(CDC73):c.1031-10T>A
|
rs370349805
|
|
NM_024529.5(CDC73):c.1031-10T>G
|
rs370349805
|
|
NM_024529.5(CDC73):c.1031-11_1031-10del
|
|
|
NM_024529.5(CDC73):c.1031-12del
|
rs751580604
|
|
NM_024529.5(CDC73):c.1031-12dup
|
rs751580604
|
|
NM_024529.5(CDC73):c.1031-19T>C
|
|
|
NM_024529.5(CDC73):c.1031-1G>T
|
|
|
NM_024529.5(CDC73):c.1031-7T>C
|
rs781077021
|
|
NM_024529.5(CDC73):c.1032T>C (p.Val344=)
|
rs148612206
|
|
NM_024529.5(CDC73):c.1038A>G (p.Gln346=)
|
|
|
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.1041A>C (p.Ala347=)
|
|
|
NM_024529.5(CDC73):c.1041A>G (p.Ala347=)
|
rs2102038069
|
|
NM_024529.5(CDC73):c.1043G>T (p.Arg348Ile)
|
|
|
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.1052del (p.Pro351fs)
|
rs1553288362
|
|
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.1055del (p.Asn352fs)
|
|
|
NM_024529.5(CDC73):c.1065A>C (p.Lys355Asn)
|
rs1677289784
|
|
NM_024529.5(CDC73):c.1066+11G>A
|
|
|
NM_024529.5(CDC73):c.1066+13A>C
|
|
|
NM_024529.5(CDC73):c.1066+19T>C
|
|
|
NM_024529.5(CDC73):c.1066+3G>A
|
rs2102038126
|
|
NM_024529.5(CDC73):c.1066+4A>G
|
|
|
NM_024529.5(CDC73):c.1066+6G>A
|
|
|
NM_024529.5(CDC73):c.1066+6G>T
|
rs1677289869
|
|
NM_024529.5(CDC73):c.1066+9G>A
|
rs2102038137
|
|
NM_024529.5(CDC73):c.1067-18T>A
|
|
|
NM_024529.5(CDC73):c.1067-19G>A
|
|
|
NM_024529.5(CDC73):c.1067-2_1069del
|
rs2102038469
|
|
NM_024529.5(CDC73):c.1067-3T>A
|
rs1572202351
|
|
NM_024529.5(CDC73):c.1067-8C>G
|
rs780485546
|
|
NM_024529.5(CDC73):c.1067-9T>A
|
rs1253333879
|
|
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.1077A>G (p.Thr359=)
|
rs746991059
|
|
NM_024529.5(CDC73):c.1077A>T (p.Thr359=)
|
rs746991059
|
|
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.1080C>T (p.Pro360=)
|
rs1211967086
|
|
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.1096G>A (p.Ala366Thr)
|
rs2102038531
|
|
NM_024529.5(CDC73):c.1098A>G (p.Ala366=)
|
rs775127570
|
|
NM_024529.5(CDC73):c.10G>C (p.Val4Leu)
|
rs1675463101
|
|
NM_024529.5(CDC73):c.10G>T (p.Val4Leu)
|
|
|
NM_024529.5(CDC73):c.10del (p.Val4fs)
|
rs2103111548
|
|
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.1104C>T (p.Thr368=)
|
rs2102038555
|
|
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.1119C>T (p.Thr373=)
|
rs1015188625
|
|
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>G (p.Ala377Gly)
|
|
|
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
|
|
|
NM_024529.5(CDC73):c.1131A>T (p.Ala377=)
|
|
|
NM_024529.5(CDC73):c.1132A>G (p.Lys378Glu)
|
rs1677295923
|
|
NM_024529.5(CDC73):c.1138C>T (p.Leu380Phe)
|
|
|
NM_024529.5(CDC73):c.1143A>G (p.Leu381=)
|
rs1384414870
|
|
NM_024529.5(CDC73):c.1147G>C (p.Asp383His)
|
|
|
NM_024529.5(CDC73):c.1149C>G (p.Asp383Glu)
|
|
|
NM_024529.5(CDC73):c.114C>T (p.Thr38=)
|
|
|
NM_024529.5(CDC73):c.1150C>G (p.Leu384Val)
|
rs377215814
|
|
NM_024529.5(CDC73):c.1154+13T>C
|
|
|
NM_024529.5(CDC73):c.1154+14T>C
|
rs2102038628
|
|
NM_024529.5(CDC73):c.1154+19T>G
|
rs2102038640
|
|
NM_024529.5(CDC73):c.1154+20A>G
|
|
|
NM_024529.5(CDC73):c.1154+7A>C
|
|
|
NM_024529.5(CDC73):c.1154+7A>G
|
|
|
NM_024529.5(CDC73):c.1154+8A>G
|
rs2102038618
|
|
NM_024529.5(CDC73):c.1154+9T>G
|
|
|
NM_024529.5(CDC73):c.1155-10T>G
|
|
|
NM_024529.5(CDC73):c.1155-12G>A
|
rs2102058222
|
|
NM_024529.5(CDC73):c.1155-12G>C
|
|
|
NM_024529.5(CDC73):c.1155-14C>G
|
|
|
NM_024529.5(CDC73):c.1155-14C>T
|
rs377158112
|
|
NM_024529.5(CDC73):c.1155-14_1155-13del
|
|
|
NM_024529.5(CDC73):c.1155-17T>G
|
|
|
NM_024529.5(CDC73):c.1155-19C>T
|
|
|
NM_024529.5(CDC73):c.1155-20T>A
|
|
|
NM_024529.5(CDC73):c.1155-3A>G
|
rs1060500014
|
|
NM_024529.5(CDC73):c.1155-5C>T
|
|
|
NM_024529.5(CDC73):c.1155-6del
|
|
|
NM_024529.5(CDC73):c.1155-6dup
|
|
|
NM_024529.5(CDC73):c.1155-8T>C
|
rs2102058227
|
|
NM_024529.5(CDC73):c.1155A>G (p.Lys385=)
|
rs1572215260
|
|
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
|
|
|
NM_024529.5(CDC73):c.1161C>T (p.Val387=)
|
rs1572215263
|
|
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.1164A>G (p.Pro388=)
|
rs1572215267
|
|
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.1174_1178del (p.Lys392fs)
|
|
|
NM_024529.5(CDC73):c.1176G>A (p.Lys392=)
|
rs767993995
|
|
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.1182A>G (p.Lys394=)
|
rs2102058268
|
|
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.1188T>C (p.Gly396=)
|
rs1205766785
|
|
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.1195C>T (p.Arg399Ter)
|
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.1212A>G (p.Leu404=)
|
rs552978336
|
|
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.1226A>G (p.Lys409Arg)
|
|
|
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>C (p.Met412Leu)
|
rs752959843
|
|
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu)
|
rs752959843
|
|
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
|
|
|
NM_024529.5(CDC73):c.1237C>G (p.Gln413Glu)
|
rs1553291031
|
|
NM_024529.5(CDC73):c.1238A>C (p.Gln413Pro)
|
|
|
NM_024529.5(CDC73):c.1239A>G (p.Gln413=)
|
rs1677689666
|
|
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.1247del (p.Gly416fs)
|
rs1572215344
|
|
NM_024529.5(CDC73):c.1248C>G (p.Gly416=)
|
|
|
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.1251T>C (p.Thr417=)
|
|
|
NM_024529.5(CDC73):c.1252G>A (p.Ala418Thr)
|
|
|
NM_024529.5(CDC73):c.1257T>C (p.Ile419=)
|
|
|
NM_024529.5(CDC73):c.1264A>G (p.Thr422Ala)
|
|
|
NM_024529.5(CDC73):c.1266A>G (p.Thr422=)
|
rs1553291034
|
|
NM_024529.5(CDC73):c.1269A>T (p.Val423=)
|
rs745826358
|
|
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>G (p.Arg426Gly)
|
rs2102058411
|
|
NM_024529.5(CDC73):c.1278A>G (p.Arg426=)
|
rs1677690277
|
|
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.128G>A (p.Trp43Ter)
|
rs121434263
|
|
NM_024529.5(CDC73):c.1290G>A (p.Gln430=)
|
rs1336120271
|
|
NM_024529.5(CDC73):c.1293C>A (p.Pro431=)
|
|
|
NM_024529.5(CDC73):c.1294C>T (p.Leu432Phe)
|
rs2102058450
|
|
NM_024529.5(CDC73):c.1296T>G (p.Leu432=)
|
rs2102058457
|
|
NM_024529.5(CDC73):c.129G>C (p.Trp43Cys)
|
|
|
NM_024529.5(CDC73):c.12G>C (p.Val4=)
|
rs2103111556
|
|
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)
|
rs1558276082
|
|
NM_024529.5(CDC73):c.1300C>T (p.Leu434Phe)
|
|
|
NM_024529.5(CDC73):c.1302T>C (p.Leu434=)
|
|
|
NM_024529.5(CDC73):c.1303A>G (p.Met435Val)
|
|
|
NM_024529.5(CDC73):c.1306C>T (p.Pro436Ser)
|
|
|
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.1307dup (p.Gln437fs)
|
|
|
NM_024529.5(CDC73):c.1308T>C (p.Pro436=)
|
|
|
NM_024529.5(CDC73):c.1308T>G (p.Pro436=)
|
rs991835494
|
|
NM_024529.5(CDC73):c.131+11_131+12delinsAC
|
|
|
NM_024529.5(CDC73):c.131+13T>C
|
|
|
NM_024529.5(CDC73):c.131+15G>T
|
|
|
NM_024529.5(CDC73):c.131+16C>A
|
|
|
NM_024529.5(CDC73):c.131+16C>T
|
|
|
NM_024529.5(CDC73):c.131+17T>A
|
|
|
NM_024529.5(CDC73):c.131+17dup
|
rs2103111814
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+1G>T
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+3A>G
|
|
|
NM_024529.5(CDC73):c.131+7C>G
|
rs1572139906
|
|
NM_024529.5(CDC73):c.131+7C>T
|
rs1572139906
|
|
NM_024529.5(CDC73):c.131+8C>A
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+8C>G
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+8C>T
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+9G>C
|
|
|
NM_024529.5(CDC73):c.131+9G>T
|
rs780780877
|
|
NM_024529.5(CDC73):c.1310A>T (p.Gln437Leu)
|
rs2102058489
|
|
NM_024529.5(CDC73):c.1313A>T (p.Asp438Val)
|
|
|
NM_024529.5(CDC73):c.1314C>T (p.Asp438=)
|
|
|
NM_024529.5(CDC73):c.1316+10T>C
|
|
|
NM_024529.5(CDC73):c.1316+11C>G
|
|
|
NM_024529.5(CDC73):c.1316+11C>T
|
rs917463973
|
|
NM_024529.5(CDC73):c.1316+12T>G
|
|
|
NM_024529.5(CDC73):c.1316+13C>A
|
rs2102058509
|
|
NM_024529.5(CDC73):c.1316+13C>G
|
rs2102058509
|
|
NM_024529.5(CDC73):c.1316+13C>T
|
|
|
NM_024529.5(CDC73):c.1316+14T>C
|
|
|
NM_024529.5(CDC73):c.1316+14TA[6]
|
rs747940099
|
|
NM_024529.5(CDC73):c.1316+14del
|
|
|
NM_024529.5(CDC73):c.1316+15A>G
|
rs372909512
|
|
NM_024529.5(CDC73):c.1316+17A>G
|
|
|
NM_024529.5(CDC73):c.1316+18T>A
|
|
|
NM_024529.5(CDC73):c.1316+18del
|
|
|
NM_024529.5(CDC73):c.1316+19A>G
|
|
|
NM_024529.5(CDC73):c.1316+1del
|
rs2102058495
|
|
NM_024529.5(CDC73):c.1316+20_1316+22del
|
rs2102058536
|
|
NM_024529.5(CDC73):c.1316+4A>G
|
rs2102058500
|
|
NM_024529.5(CDC73):c.1316+6A>T
|
rs2102058502
|
|
NM_024529.5(CDC73):c.1316+8A>G
|
rs1572215403
|
|
NM_024529.5(CDC73):c.1317-10C>G
|
rs2102061741
|
|
NM_024529.5(CDC73):c.1317-14T>C
|
|
|
NM_024529.5(CDC73):c.1317-16A>C
|
|
|
NM_024529.5(CDC73):c.1317-16A>G
|
|
|
NM_024529.5(CDC73):c.1317-17C>T
|
|
|
NM_024529.5(CDC73):c.1317-20A>G
|
rs767329060
|
|
NM_024529.5(CDC73):c.1317-3T>C
|
|
|
NM_024529.5(CDC73):c.1317-7C>T
|
rs1677755980
|
|
NM_024529.5(CDC73):c.1317-8A>G
|
|
|
NM_024529.5(CDC73):c.131G>T (p.Gly44Val)
|
|
|
NM_024529.5(CDC73):c.132-12T>G
|
|
|
NM_024529.5(CDC73):c.132-12del
|
|
|
NM_024529.5(CDC73):c.132-13T>A
|
rs935384550
|
|
NM_024529.5(CDC73):c.132-13T>G
|
rs935384550
|
|
NM_024529.5(CDC73):c.132-14C>G
|
|
|
NM_024529.5(CDC73):c.132-14_132-13insAATT
|
rs530110098
|
|
NM_024529.5(CDC73):c.132-15C>T
|
rs2103113865
|
|
NM_024529.5(CDC73):c.132-16G>A
|
|
|
NM_024529.5(CDC73):c.132-16G>C
|
|
|
NM_024529.5(CDC73):c.132-17T>G
|
rs2103113863
|
|
NM_024529.5(CDC73):c.132-18T>C
|
rs1572142481
|
|
NM_024529.5(CDC73):c.132-19C>G
|
|
|
NM_024529.5(CDC73):c.132-20del
|
rs2103113858
|
|
NM_024529.5(CDC73):c.132-2A>C
|
|
|
NM_024529.5(CDC73):c.132-7A>G
|
|
|
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.1323C>T (p.Arg441=)
|
rs747780211
|
|
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)
|
rs1677756402
|
|
NM_024529.5(CDC73):c.1328T>G (p.Val443Gly)
|
|
|
NM_024529.5(CDC73):c.1329A>G (p.Val443=)
|
|
|
NM_024529.5(CDC73):c.1330G>A (p.Ala444Thr)
|
|
|
NM_024529.5(CDC73):c.1332C>G (p.Ala444=)
|
rs1060503808
|
|
NM_024529.5(CDC73):c.1332C>T (p.Ala444=)
|
rs1060503808
|
|
NM_024529.5(CDC73):c.1336T>C (p.Phe446Leu)
|
|
|
NM_024529.5(CDC73):c.1338T>C (p.Phe446=)
|
rs2102061810
|
|
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
|
|
|
NM_024529.5(CDC73):c.1339G>T (p.Val447Leu)
|
|
|
NM_024529.5(CDC73):c.1341G>A (p.Val447=)
|
rs771409544
|
|
NM_024529.5(CDC73):c.1341G>T (p.Val447=)
|
|
|
NM_024529.5(CDC73):c.1344G>T (p.Gln448His)
|
|
|
NM_024529.5(CDC73):c.1350T>C (p.Pro450=)
|
rs2102061831
|
|
NM_024529.5(CDC73):c.1353A>G (p.Ala451=)
|
rs1677756910
|
|
NM_024529.5(CDC73):c.1364A>G (p.Lys455Arg)
|
rs1444457760
|
|
NM_024529.5(CDC73):c.1368T>C (p.Gly456=)
|
rs1553291416
|
|
NM_024529.5(CDC73):c.136G>A (p.Gly46Arg)
|
|
|
NM_024529.5(CDC73):c.1371G>C (p.Trp457Cys)
|
|
|
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
|
|
|
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.1389T>C (p.Asp463=)
|
rs2102061880
|
|
NM_024529.5(CDC73):c.138A>G (p.Gly46=)
|
|
|
NM_024529.5(CDC73):c.1396C>A (p.Pro466Thr)
|
|
|
NM_024529.5(CDC73):c.1397del (p.Pro466fs)
|
rs2102061886
|
|
NM_024529.5(CDC73):c.1399G>A (p.Val467Ile)
|
|
|
NM_024529.5(CDC73):c.13C>G (p.Leu5Val)
|
|
|
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.1405dup (p.Ile469fs)
|
rs1677757559
|
|
NM_024529.5(CDC73):c.1406T>C (p.Ile469Thr)
|
rs1677757603
|
|
NM_024529.5(CDC73):c.1410T>C (p.Phe470=)
|
rs2102061903
|
|
NM_024529.5(CDC73):c.1411G>C (p.Ala471Pro)
|
|
|
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu)
|
rs1677757689
|
|
NM_024529.5(CDC73):c.1417+14T>C
|
|
|
NM_024529.5(CDC73):c.1417+14del
|
|
|
NM_024529.5(CDC73):c.1417+15G>A
|
|
|
NM_024529.5(CDC73):c.1417+20T>A
|
|
|
NM_024529.5(CDC73):c.1417+20_1417+23del
|
|
|
NM_024529.5(CDC73):c.1417+5G>T
|
rs2102061922
|
|
NM_024529.5(CDC73):c.1417+8T>C
|
|
|
NM_024529.5(CDC73):c.1417dup (p.Ile473fs)
|
rs2102061912
|
|
NM_024529.5(CDC73):c.1418-10C>A
|
rs768713729
|
|
NM_024529.5(CDC73):c.1418-10C>T
|
rs768713729
|
|
NM_024529.5(CDC73):c.1418-10CT[2]
|
rs1572226215
|
|
NM_024529.5(CDC73):c.1418-11C>G
|
rs1328380226
|
|
NM_024529.5(CDC73):c.1418-11C>T
|
|
|
NM_024529.5(CDC73):c.1418-12C>T
|
rs2102073203
|
|
NM_024529.5(CDC73):c.1418-14C>T
|
|
|
NM_024529.5(CDC73):c.1418-15C>T
|
|
|
NM_024529.5(CDC73):c.1418-17C>G
|
rs11583414
|
|
NM_024529.5(CDC73):c.1418-17C>T
|
rs11583414
|
|
NM_024529.5(CDC73):c.1418-19C>G
|
|
|
NM_024529.5(CDC73):c.1418-302G>A
|
|
|
NM_024529.5(CDC73):c.1418-3T>C
|
rs1678015232
|
|
NM_024529.5(CDC73):c.1418-6C>G
|
rs1678015138
|
|
NM_024529.5(CDC73):c.1418-7T>C
|
rs2102073224
|
|
NM_024529.5(CDC73):c.1418-8C>T
|
rs2102073220
|
|
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>G (p.Leu478Val)
|
rs1060500025
|
|
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp)
|
rs1553292962
|
|
NM_024529.5(CDC73):c.1440T>C (p.Tyr480=)
|
|
|
NM_024529.5(CDC73):c.1441G>T (p.Asp481Tyr)
|
rs1678015613
|
|
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>C (p.Glu482Asp)
|
|
|
NM_024529.5(CDC73):c.144A>C (p.Glu48Asp)
|
rs2103113897
|
|
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>A (p.Arg484=)
|
|
|
NM_024529.5(CDC73):c.1452T>C (p.Arg484=)
|
|
|
NM_024529.5(CDC73):c.1453C>T (p.Leu485=)
|
rs761968225
|
|
NM_024529.5(CDC73):c.1455G>T (p.Leu485=)
|
|
|
NM_024529.5(CDC73):c.1459C>T (p.Pro487Ser)
|
|
|
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.1473A>G (p.Lys491=)
|
|
|
NM_024529.5(CDC73):c.1476G>C (p.Trp492Cys)
|
rs2102073392
|
|
NM_024529.5(CDC73):c.1479T>C (p.Asp493=)
|
|
|
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.1482A>G (p.Val494=)
|
rs1286819904
|
|
NM_024529.5(CDC73):c.1483A>G (p.Thr495Ala)
|
rs1558326136
|
|
NM_024529.5(CDC73):c.1485A>G (p.Thr495=)
|
rs2102073429
|
|
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
|
|
|
NM_024529.5(CDC73):c.1488A>G (p.Val496=)
|
rs2102073439
|
|
NM_024529.5(CDC73):c.148C>G (p.Gln50Glu)
|
rs2103113904
|
|
NM_024529.5(CDC73):c.1491A>G (p.Leu497=)
|
rs1448322761
|
|
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.1503T>C (p.Tyr501=)
|
|
|
NM_024529.5(CDC73):c.1506C>T (p.His502=)
|
rs2102073494
|
|
NM_024529.5(CDC73):c.1509A>G (p.Lys503=)
|
rs2102073498
|
|
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.1527A>G (p.Pro509=)
|
rs765271361
|
|
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.1536A>G (p.Leu512=)
|
|
|
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.1553T>C (p.Leu518Ser)
|
|
|
NM_024529.5(CDC73):c.1558A>C (p.Arg520=)
|
|
|
NM_024529.5(CDC73):c.1558A>G (p.Arg520Gly)
|
rs1553292974
|
|
NM_024529.5(CDC73):c.1559+10del
|
rs767962310
|
|
NM_024529.5(CDC73):c.1559+13C>G
|
|
|
NM_024529.5(CDC73):c.1559+16A>G
|
rs2102073684
|
|
NM_024529.5(CDC73):c.1559+16A>T
|
|
|
NM_024529.5(CDC73):c.1559+18A>C
|
rs988361827
|
|
NM_024529.5(CDC73):c.1559+4A>T
|
rs1001095861
|
|
NM_024529.5(CDC73):c.1559+8C>T
|
rs751279026
|
|
NM_024529.5(CDC73):c.1560-16A>G
|
rs935733228
|
|
NM_024529.5(CDC73):c.1560-18C>A
|
|
|
NM_024529.5(CDC73):c.1560-18C>T
|
rs925676253
|
|
NM_024529.5(CDC73):c.1560-20T>C
|
|
|
NM_024529.5(CDC73):c.1560-4del
|
|
|
NM_024529.5(CDC73):c.1560-4dup
|
rs761016442
|
|
NM_024529.5(CDC73):c.1560-9T>A
|
rs1572226919
|
|
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.1576A>G (p.Lys526Glu)
|
|
|
NM_024529.5(CDC73):c.1578A>G (p.Lys526=)
|
rs1678030993
|
|
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter)
|
rs1675541893
|
|
NM_024529.5(CDC73):c.1581G>T (p.Ser527=)
|
rs141013612
|
|
NM_024529.5(CDC73):c.1582C>T (p.His528Tyr)
|
|
|
NM_024529.5(CDC73):c.1585T>C (p.Leu529=)
|
|
|
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.1590A>G (p.Arg530=)
|
rs1456447381
|
|
NM_024529.5(CDC73):c.1592T>G (p.Phe531Cys)
|
|
|
NM_024529.5(CDC73):c.1594T>G (p.Ter532Gly)
|
|
|
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.162C>G (p.Tyr54Ter)
|
rs121434265
|
|
NM_024529.5(CDC73):c.162C>T (p.Tyr54=)
|
rs121434265
|
|
NM_024529.5(CDC73):c.164A>G (p.Tyr55Cys)
|
rs2103113933
|
|
NM_024529.5(CDC73):c.165C>T (p.Tyr55=)
|
rs2103113938
|
|
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.16A>G (p.Ser6Gly)
|
|
|
NM_024529.5(CDC73):c.170T>A (p.Leu57Ter)
|
|
|
NM_024529.5(CDC73):c.174T>C (p.Asp58=)
|
rs1060503806
|
|
NM_024529.5(CDC73):c.177C>T (p.Ser59=)
|
rs1675542356
|
|
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.17del (p.Ser6fs)
|
|
|
NM_024529.5(CDC73):c.185T>G (p.Phe62Cys)
|
|
|
NM_024529.5(CDC73):c.187C>G (p.Leu63Val)
|
|
|
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro)
|
rs1060500015
|
|
NM_024529.5(CDC73):c.189A>G (p.Leu63=)
|
rs1675542629
|
|
NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)
|
|
|
NM_024529.5(CDC73):c.18C>T (p.Ser6=)
|
rs564726032
|
|
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)
|
rs121434264
|
|
NM_024529.5(CDC73):c.192T>C (p.Leu64=)
|
rs1675542758
|
|
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.1A>G (p.Met1Val)
|
rs1558276054
|
|
NM_024529.5(CDC73):c.201del (p.His68fs)
|
rs2103114004
|
|
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.213T>C (p.His71=)
|
|
|
NM_024529.5(CDC73):c.216_235dup (p.Ala79fs)
|
|
|
NM_024529.5(CDC73):c.21C>G (p.Val7=)
|
rs769522707
|
|
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>G (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.225C>T (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.229C>T (p.Arg77Cys)
|
|
|
NM_024529.5(CDC73):c.22C>T (p.Leu8=)
|
rs1366872937
|
|
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.234A>C (p.Ala78=)
|
rs2103114047
|
|
NM_024529.5(CDC73):c.235G>A (p.Ala79Thr)
|
|
|
NM_024529.5(CDC73):c.237+14A>G
|
|
|
NM_024529.5(CDC73):c.237+18del
|
rs753979898
|
|
NM_024529.5(CDC73):c.237+1G>A
|
rs794727303
|
|
NM_024529.5(CDC73):c.237+1G>C
|
rs794727303
|
|
NM_024529.5(CDC73):c.237+3A>G
|
|
|
NM_024529.5(CDC73):c.237+4A>G
|
|
|
NM_024529.5(CDC73):c.237+5G>A
|
rs1675543609
|
|
NM_024529.5(CDC73):c.237_237+1insA
|
|
|
NM_024529.5(CDC73):c.238-10T>G
|
|
|
NM_024529.5(CDC73):c.238-14A>G
|
rs2103117745
|
|
NM_024529.5(CDC73):c.238-15A>G
|
|
|
NM_024529.5(CDC73):c.238-17T>C
|
|
|
NM_024529.5(CDC73):c.238-17T>G
|
|
|
NM_024529.5(CDC73):c.238-3dup
|
rs1553278252
|
|
NM_024529.5(CDC73):c.238-5T>C
|
rs2103117757
|
|
NM_024529.5(CDC73):c.238-6T>A
|
rs1675669973
|
|
NM_024529.5(CDC73):c.238-7G>A
|
rs1572146600
|
|
NM_024529.5(CDC73):c.238-7G>C
|
rs1572146600
|
|
NM_024529.5(CDC73):c.238-8G>A
|
rs2103117753
|
|
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.245del (p.Asn82fs)
|
rs1060500009
|
|
NM_024529.5(CDC73):c.249T>C (p.Ile83=)
|
|
|
NM_024529.5(CDC73):c.250C>A (p.Pro84Thr)
|
|
|
NM_024529.5(CDC73):c.250C>T (p.Pro84Ser)
|
rs754686636
|
|
NM_024529.5(CDC73):c.252T>A (p.Pro84=)
|
|
|
NM_024529.5(CDC73):c.252T>C (p.Pro84=)
|
rs1572146630
|
|
NM_024529.5(CDC73):c.258T>C (p.Val86=)
|
rs1060500023
|
|
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)
|
rs121434262
|
|
NM_024529.5(CDC73):c.261A>G (p.Arg87=)
|
rs2103117840
|
|
NM_024529.5(CDC73):c.26G>A (p.Arg9Gln)
|
rs2103111603
|
|
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
|
|
|
NM_024529.5(CDC73):c.26G>T (p.Arg9Leu)
|
|
|
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)
|
rs1558280170
|
|
NM_024529.5(CDC73):c.272G>A (p.Arg91Gln)
|
|
|
NM_024529.5(CDC73):c.282A>G (p.Leu94=)
|
|
|
NM_024529.5(CDC73):c.282A>T (p.Leu94=)
|
rs932737851
|
|
NM_024529.5(CDC73):c.283C>T (p.Leu95Phe)
|
|
|
NM_024529.5(CDC73):c.284T>C (p.Leu95Pro)
|
rs2103117916
|
|
NM_024529.5(CDC73):c.285T>G (p.Leu95=)
|
rs1572146653
|
|
NM_024529.5(CDC73):c.288A>T (p.Gly96=)
|
|
|
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)
|
|
|
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.295A>G (p.Asn99Asp)
|
rs2103117949
|
|
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser)
|
rs1060500017
|
|
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.2dup (p.Met1fs)
|
|
|
NM_024529.5(CDC73):c.301G>A (p.Glu101Lys)
|
rs772376553
|
|
NM_024529.5(CDC73):c.303A>G (p.Glu101=)
|
|
|
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+10T>G
|
|
|
NM_024529.5(CDC73):c.307+15A>G
|
|
|
NM_024529.5(CDC73):c.307+16A>G
|
|
|
NM_024529.5(CDC73):c.307+17T>A
|
|
|
NM_024529.5(CDC73):c.307+19G>T
|
|
|
NM_024529.5(CDC73):c.307+1G>A
|
|
|
NM_024529.5(CDC73):c.307+2T>G
|
|
|
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+7A>G
|
rs1553278270
|
|
NM_024529.5(CDC73):c.307+9T>C
|
rs2103118004
|
|
NM_024529.5(CDC73):c.307+9T>G
|
|
|
NM_024529.5(CDC73):c.307T>C (p.Ser103Pro)
|
rs1675671751
|
|
NM_024529.5(CDC73):c.308-10A>C
|
rs1572150389
|
|
NM_024529.5(CDC73):c.308-10_308-9del
|
rs2103121417
|
|
NM_024529.5(CDC73):c.308-11del
|
|
|
NM_024529.5(CDC73):c.308-12T>G
|
|
|
NM_024529.5(CDC73):c.308-15T>G
|
rs1196256327
|
|
NM_024529.5(CDC73):c.308-16C>G
|
|
|
NM_024529.5(CDC73):c.308-18A>C
|
|
|
NM_024529.5(CDC73):c.308-20G>A
|
|
|
NM_024529.5(CDC73):c.308-3C>T
|
|
|
NM_024529.5(CDC73):c.308-6C>T
|
|
|
NM_024529.5(CDC73):c.308-7T>A
|
|
|
NM_024529.5(CDC73):c.308-9T>C
|
rs1572150390
|
|
NM_024529.5(CDC73):c.309A>G (p.Ser103=)
|
|
|
NM_024529.5(CDC73):c.30G>A (p.Gln10=)
|
rs764533991
|
|
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser)
|
rs1675773683
|
|
NM_024529.5(CDC73):c.312A>G (p.Thr104=)
|
rs747337987
|
|
NM_024529.5(CDC73):c.312A>T (p.Thr104=)
|
|
|
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.320G>A (p.Ser107Asn)
|
rs1572150421
|
|
NM_024529.5(CDC73):c.326A>T (p.Asp109Val)
|
|
|
NM_024529.5(CDC73):c.328A>C (p.Arg110=)
|
rs2103121465
|
|
NM_024529.5(CDC73):c.331del (p.Ser111fs)
|
rs2103121472
|
|
NM_024529.5(CDC73):c.336T>A (p.Ala112=)
|
|
|
NM_024529.5(CDC73):c.336T>G (p.Ala112=)
|
|
|
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter)
|
rs2103121496
|
|
NM_024529.5(CDC73):c.342A>C (p.Leu114Phe)
|
rs1675774810
|
|
NM_024529.5(CDC73):c.342A>G (p.Leu114=)
|
|
|
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
|
|
|
NM_024529.5(CDC73):c.346A>G (p.Ile116Val)
|
|
|
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.355C>T (p.Gln119Ter)
|
rs886041278
|
|
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.35_41del (p.Asn12fs)
|
|
|
NM_024529.5(CDC73):c.360A>T (p.Arg120=)
|
rs2103121528
|
|
NM_024529.5(CDC73):c.366T>C (p.Thr122=)
|
rs2103121532
|
|
NM_024529.5(CDC73):c.369A>G (p.Gln123=)
|
|
|
NM_024529.5(CDC73):c.370+10G>T
|
rs1572150508
|
|
NM_024529.5(CDC73):c.370+11T>A
|
|
|
NM_024529.5(CDC73):c.370+15A>G
|
rs773172494
|
|
NM_024529.5(CDC73):c.370+15A>T
|
|
|
NM_024529.5(CDC73):c.370+3A>G
|
|
|
NM_024529.5(CDC73):c.370+7C>T
|
rs1375228161
|
|
NM_024529.5(CDC73):c.370+9T>A
|
rs1553278822
|
|
NM_024529.5(CDC73):c.371-10T>A
|
|
|
NM_024529.5(CDC73):c.371-11T>C
|
|
|
NM_024529.5(CDC73):c.371-11_371-10del
|
|
|
NM_024529.5(CDC73):c.371-12T>G
|
|
|
NM_024529.5(CDC73):c.371-13C>A
|
|
|
NM_024529.5(CDC73):c.371-13C>G
|
|
|
NM_024529.5(CDC73):c.371-13C>T
|
|
|
NM_024529.5(CDC73):c.371-13_371-12del
|
rs1558282411
|
|
NM_024529.5(CDC73):c.371-14T>G
|
|
|
NM_024529.5(CDC73):c.371-15C>G
|
|
|
NM_024529.5(CDC73):c.371-16T>G
|
|
|
NM_024529.5(CDC73):c.371-17T>G
|
rs763780849
|
|
NM_024529.5(CDC73):c.371-19A>T
|
rs2103121613
|
|
NM_024529.5(CDC73):c.371-20T>C
|
rs2103121611
|
|
NM_024529.5(CDC73):c.371-4A>C
|
|
|
NM_024529.5(CDC73):c.371-5T>A
|
|
|
NM_024529.5(CDC73):c.371-5TA[3]
|
rs1553278836
|
|
NM_024529.5(CDC73):c.371-6T>A
|
rs1060500024
|
|
NM_024529.5(CDC73):c.371-6T>C
|
rs1060500024
|
|
NM_024529.5(CDC73):c.371-9_371-6del
|
|
|
NM_024529.5(CDC73):c.374A>C (p.Lys125Thr)
|
rs1455915064
|
|
NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)
|
|
|
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.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.38T>C (p.Ile13Thr)
|
|
|
NM_024529.5(CDC73):c.393T>A (p.Val131=)
|
rs1572150622
|
|
NM_024529.5(CDC73):c.394T>A (p.Leu132Ile)
|
|
|
NM_024529.5(CDC73):c.396A>G (p.Leu132=)
|
|
|
NM_024529.5(CDC73):c.398C>G (p.Ala133Gly)
|
|
|
NM_024529.5(CDC73):c.399A>G (p.Ala133=)
|
rs1553278851
|
|
NM_024529.5(CDC73):c.39C>G (p.Ile13Met)
|
|
|
NM_024529.5(CDC73):c.404C>G (p.Ala135Gly)
|
rs1675778193
|
|
NM_024529.5(CDC73):c.405A>G (p.Ala135=)
|
rs2103121701
|
|
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter)
|
rs2103121703
|
|
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.415C>T (p.Arg139Ter)
|
rs2103121721
|
|
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.420T>C (p.Ile140=)
|
|
|
NM_024529.5(CDC73):c.423+10C>A
|
|
|
NM_024529.5(CDC73):c.423+11dup
|
|
|
NM_024529.5(CDC73):c.423+12_423+13del
|
rs770561055
|
|
NM_024529.5(CDC73):c.423+13T>C
|
rs2103121752
|
|
NM_024529.5(CDC73):c.423+14A>G
|
|
|
NM_024529.5(CDC73):c.423+14A>T
|
|
|
NM_024529.5(CDC73):c.423+15T>A
|
|
|
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTNNNNNNN
|
rs2103121762
|
|
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCAAGAAACTGTATTTT
|
rs2103121737
|
|
NM_024529.5(CDC73):c.423+1G>A
|
rs1131691732
|
|
NM_024529.5(CDC73):c.423+3A>G
|
|
|
NM_024529.5(CDC73):c.423+4A>G
|
|
|
NM_024529.5(CDC73):c.423+6G>A
|
|
|
NM_024529.5(CDC73):c.423+6G>T
|
|
|
NM_024529.5(CDC73):c.423+6_423+9del
|
|
|
NM_024529.5(CDC73):c.423+9A>G
|
|
|
NM_024529.5(CDC73):c.423+9dup
|
|
|
NM_024529.5(CDC73):c.423G>A (p.Glu141=)
|
rs1291044007
|
|
NM_024529.5(CDC73):c.424-10T>C
|
|
|
NM_024529.5(CDC73):c.424-11G>A
|
|
|
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.424-18A>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.43A>T (p.Lys15Ter)
|
|
|
NM_024529.5(CDC73):c.43AAG[1] (p.Lys16del)
|
rs1572139757
|
|
NM_024529.5(CDC73):c.441C>T (p.Arg147=)
|
|
|
NM_024529.5(CDC73):c.444T>G (p.Leu148=)
|
|
|
NM_024529.5(CDC73):c.455_456del (p.Arg152fs)
|
rs1060500019
|
|
NM_024529.5(CDC73):c.456A>G (p.Arg152=)
|
rs1675832662
|
|
NM_024529.5(CDC73):c.459G>A (p.Leu153=)
|
rs1572152394
|
|
NM_024529.5(CDC73):c.461C>T (p.Ala154Val)
|
|
|
NM_024529.5(CDC73):c.465C>G (p.Ala155=)
|
rs559275109
|
|
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.471G>A (p.Leu157=)
|
rs1675832895
|
|
NM_024529.5(CDC73):c.473A>T (p.Glu158Val)
|
|
|
NM_024529.5(CDC73):c.477T>A (p.Gly159=)
|
|
|
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
|
|
|
NM_024529.5(CDC73):c.480C>T (p.His160=)
|
|
|
NM_024529.5(CDC73):c.480_481del (p.His160fs)
|
rs1572152420
|
|
NM_024529.5(CDC73):c.483dup (p.Glu162fs)
|
rs1553279085
|
|
NM_024529.5(CDC73):c.48G>A (p.Lys16=)
|
rs2103111654
|
|
NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)
|
|
|
NM_024529.5(CDC73):c.495A>G (p.Val165=)
|
rs2103123800
|
|
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter)
|
rs2103123807
|
|
NM_024529.5(CDC73):c.497A>T (p.Gln166Leu)
|
|
|
NM_024529.5(CDC73):c.4del (p.Ala2fs)
|
rs1060500020
|
|
NM_024529.5(CDC73):c.501T>A (p.Thr167=)
|
rs200603992
|
|
NM_024529.5(CDC73):c.501T>G (p.Thr167=)
|
rs200603992
|
|
NM_024529.5(CDC73):c.501_502del (p.Glu168fs)
|
rs2103123824
|
|
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)
|
rs1553279088
|
|
NM_024529.5(CDC73):c.510T>C (p.Ile170=)
|
|
|
NM_024529.5(CDC73):c.510del (p.Arg171fs)
|
rs2103123828
|
|
NM_024529.5(CDC73):c.512+10C>A
|
rs147939077
|
|
NM_024529.5(CDC73):c.512+11T>G
|
|
|
NM_024529.5(CDC73):c.512+14T>G
|
rs2103123848
|
|
NM_024529.5(CDC73):c.512+15T>A
|
|
|
NM_024529.5(CDC73):c.512+16A>G
|
rs2103123856
|
|
NM_024529.5(CDC73):c.512+18G>T
|
rs2103123859
|
|
NM_024529.5(CDC73):c.512+3A>C
|
rs1558283570
|
|
NM_024529.5(CDC73):c.512+4A>C
|
|
|
NM_024529.5(CDC73):c.512+5G>C
|
rs557303948
|
|
NM_024529.5(CDC73):c.512+6A>C
|
|
|
NM_024529.5(CDC73):c.512+6A>G
|
|
|
NM_024529.5(CDC73):c.512+6A>T
|
rs1216367951
|
|
NM_024529.5(CDC73):c.512+8T>C
|
rs2103123836
|
|
NM_024529.5(CDC73):c.513-10T>C
|
|
|
NM_024529.5(CDC73):c.513-12A>G
|
|
|
NM_024529.5(CDC73):c.513-14G>T
|
|
|
NM_024529.5(CDC73):c.513-18A>G
|
|
|
NM_024529.5(CDC73):c.513-1G>A
|
|
|
NM_024529.5(CDC73):c.513-20A>T
|
|
|
NM_024529.5(CDC73):c.513-8G>C
|
rs757366134
|
|
NM_024529.5(CDC73):c.516T>C (p.Ser172=)
|
|
|
NM_024529.5(CDC73):c.517T>C (p.Leu173=)
|
rs1675912278
|
|
NM_024529.5(CDC73):c.525A>G (p.Glu175=)
|
|
|
NM_024529.5(CDC73):c.528T>C (p.Ala176=)
|
|
|
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
|
|
|
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
|
|
|
NM_024529.5(CDC73):c.52A>G (p.Ile18Val)
|
|
|
NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)
|
|
|
NM_024529.5(CDC73):c.53_54del (p.Ile18fs)
|
rs1558276157
|
|
NM_024529.5(CDC73):c.540A>G (p.Glu180=)
|
rs2103126183
|
|
NM_024529.5(CDC73):c.54T>C (p.Ile18=)
|
rs2103111672
|
|
NM_024529.5(CDC73):c.555C>A (p.Ile185=)
|
|
|
NM_024529.5(CDC73):c.55G>A (p.Val19Met)
|
rs1060500013
|
|
NM_024529.5(CDC73):c.564A>G (p.Lys188=)
|
|
|
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
|
|
|
NM_024529.5(CDC73):c.57G>A (p.Val19=)
|
|
|
NM_024529.5(CDC73):c.584C>G (p.Ser195Cys)
|
|
|
NM_024529.5(CDC73):c.58G>A (p.Val20Met)
|
|
|
NM_024529.5(CDC73):c.591C>T (p.Ile197=)
|
rs1675913192
|
|
NM_024529.5(CDC73):c.596C>G (p.Thr199Ser)
|
|
|
NM_024529.5(CDC73):c.599A>G (p.Asp200Gly)
|
|
|
NM_024529.5(CDC73):c.59T>C (p.Val20Ala)
|
|
|
NM_024529.5(CDC73):c.606T>C (p.Asp202=)
|
|
|
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
|
|
|
NM_024529.5(CDC73):c.60G>A (p.Val20=)
|
rs1572139778
|
|
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.621C>T (p.Ala207=)
|
|
|
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)
|
rs2103126261
|
|
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter)
|
rs2103126265
|
|
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
|
|
|
NM_024529.5(CDC73):c.633G>A (p.Arg211=)
|
|
|
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.645T>C (p.Asp215=)
|
rs2103126282
|
|
NM_024529.5(CDC73):c.646G>C (p.Ala216Pro)
|
|
|
NM_024529.5(CDC73):c.648T>C (p.Ala216=)
|
rs143149579
|
|
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)
|
rs1675465013
|
|
NM_024529.5(CDC73):c.656A>G (p.Asp219Gly)
|
|
|
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.663C>T (p.Thr221=)
|
rs2103126329
|
|
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.670A>G (p.Ile224Val)
|
rs1675914120
|
|
NM_024529.5(CDC73):c.672T>A (p.Ile224=)
|
|
|
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly)
|
rs2103126362
|
|
NM_024529.5(CDC73):c.678C>T (p.Ser226=)
|
|
|
NM_024529.5(CDC73):c.682G>A (p.Glu228Lys)
|
|
|
NM_024529.5(CDC73):c.683A>C (p.Glu228Ala)
|
|
|
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.687_688del (p.Arg229fs)
|
rs760591174
|
|
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.689T>A (p.Val230Glu)
|
rs1558285020
|
|
NM_024529.5(CDC73):c.689T>C (p.Val230Ala)
|
rs1558285020
|
|
NM_024529.5(CDC73):c.690A>T (p.Val230=)
|
|
|
NM_024529.5(CDC73):c.691T>C (p.Trp231Arg)
|
rs1060500022
|
|
NM_024529.5(CDC73):c.699A>G (p.Thr233=)
|
|
|
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter)
|
|
|
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)
|
rs1675915231
|
|
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
|
|
|
NM_024529.5(CDC73):c.703A>G (p.Thr235Ala)
|
rs2103126444
|
|
NM_024529.5(CDC73):c.703A>T (p.Thr235Ser)
|
|
|
NM_024529.5(CDC73):c.707C>T (p.Thr236Ile)
|
|
|
NM_024529.5(CDC73):c.709A>G (p.Ile237Val)
|
rs1675915480
|
|
NM_024529.5(CDC73):c.711C>A (p.Ile237=)
|
rs2103126478
|
|
NM_024529.5(CDC73):c.718del (p.Ser240fs)
|
rs1572154885
|
|
NM_024529.5(CDC73):c.719G>A (p.Ser240Asn)
|
|
|
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala)
|
rs1572154890
|
|
NM_024529.5(CDC73):c.721A>T (p.Thr241Ser)
|
|
|
NM_024529.5(CDC73):c.723A>G (p.Thr241=)
|
rs2103126502
|
|
NM_024529.5(CDC73):c.725G>A (p.Gly242Glu)
|
|
|
NM_024529.5(CDC73):c.726A>G (p.Gly242=)
|
rs2103126513
|
|
NM_024529.5(CDC73):c.728A>T (p.Lys243Met)
|
rs1675915771
|
|
NM_024529.5(CDC73):c.729+10A>T
|
|
|
NM_024529.5(CDC73):c.729+12A>G
|
|
|
NM_024529.5(CDC73):c.729+13T>C
|
|
|
NM_024529.5(CDC73):c.729+18_729+21del
|
rs1558285044
|
|
NM_024529.5(CDC73):c.729+19T>G
|
|
|
NM_024529.5(CDC73):c.729+1G>T
|
rs1060500012
|
|
NM_024529.5(CDC73):c.729+3A>G
|
|
|
NM_024529.5(CDC73):c.729+5T>C
|
|
|
NM_024529.5(CDC73):c.729+6del
|
|
|
NM_024529.5(CDC73):c.729G>C (p.Lys243Asn)
|
rs2103126521
|
|
NM_024529.5(CDC73):c.72A>G (p.Glu24=)
|
rs1572139792
|
|
NM_024529.5(CDC73):c.730-10T>C
|
rs2103130504
|
|
NM_024529.5(CDC73):c.730-14C>T
|
|
|
NM_024529.5(CDC73):c.730-16T>C
|
|
|
NM_024529.5(CDC73):c.730-19A>G
|
|
|
NM_024529.5(CDC73):c.730-5T>C
|
rs2103130512
|
|
NM_024529.5(CDC73):c.730-6T>C
|
rs1060503809
|
|
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.738C>T (p.Ser246=)
|
rs2103130522
|
|
NM_024529.5(CDC73):c.744C>T (p.Asn248=)
|
rs866174269
|
|
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.751G>A (p.Ala251Thr)
|
rs1676029137
|
|
NM_024529.5(CDC73):c.752C>G (p.Ala251Gly)
|
rs2103130541
|
|
NM_024529.5(CDC73):c.753A>T (p.Ala251=)
|
|
|
NM_024529.5(CDC73):c.756T>A (p.Ile252=)
|
|
|
NM_024529.5(CDC73):c.757C>A (p.Leu253Ile)
|
|
|
NM_024529.5(CDC73):c.75G>T (p.Val25=)
|
|
|
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg)
|
rs2103130545
|
|
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
|
|
|
NM_024529.5(CDC73):c.766G>A (p.Val256Ile)
|
rs1472498930
|
|
NM_024529.5(CDC73):c.768A>G (p.Val256=)
|
|
|
NM_024529.5(CDC73):c.76A>G (p.Ile26Val)
|
rs1675465327
|
|
NM_024529.5(CDC73):c.774C>G (p.Ala258=)
|
|
|
NM_024529.5(CDC73):c.774C>T (p.Ala258=)
|
rs1161574170
|
|
NM_024529.5(CDC73):c.779AAG[1] (p.Glu261del)
|
|
|
NM_024529.5(CDC73):c.786G>A (p.Gly262=)
|
|
|
NM_024529.5(CDC73):c.786G>T (p.Gly262=)
|
rs764471804
|
|
NM_024529.5(CDC73):c.792A>C (p.Ala264=)
|
|
|
NM_024529.5(CDC73):c.794C>A (p.Pro265His)
|
|
|
NM_024529.5(CDC73):c.794C>G (p.Pro265Arg)
|
|
|
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.7dup (p.Asp3fs)
|
rs1675462891
|
|
NM_024529.5(CDC73):c.800A>G (p.Gln267Arg)
|
rs2103130586
|
|
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>T (p.Arg268=)
|
rs2103130595
|
|
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.807T>G (p.Pro269=)
|
|
|
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.817G>A (p.Ala273Thr)
|
|
|
NM_024529.5(CDC73):c.817GCA[1] (p.Ala274del)
|
|
|
NM_024529.5(CDC73):c.818C>T (p.Ala273Val)
|
rs2103130620
|
|
NM_024529.5(CDC73):c.81C>T (p.Phe27=)
|
|
|
NM_024529.5(CDC73):c.828+10C>G
|
rs1442123779
|
|
NM_024529.5(CDC73):c.828+14A>C
|
rs746954367
|
|
NM_024529.5(CDC73):c.828+14A>G
|
|
|
NM_024529.5(CDC73):c.828+15C>T
|
|
|
NM_024529.5(CDC73):c.828+16T>C
|
rs1450561584
|
|
NM_024529.5(CDC73):c.828+16T>G
|
|
|
NM_024529.5(CDC73):c.828+18C>T
|
|
|
NM_024529.5(CDC73):c.828+4A>G
|
rs777621924
|
|
NM_024529.5(CDC73):c.828+7A>C
|
|
|
NM_024529.5(CDC73):c.828+8T>A
|
rs2103130641
|
|
NM_024529.5(CDC73):c.828+8T>C
|
rs2103130641
|
|
NM_024529.5(CDC73):c.828+8TGCTTTAC[3]
|
|
|
NM_024529.5(CDC73):c.828G>A (p.Val276=)
|
rs1558287563
|
|
NM_024529.5(CDC73):c.829-12A>C
|
|
|
NM_024529.5(CDC73):c.829-12A>G
|
|
|
NM_024529.5(CDC73):c.829-13_829-10del
|
|
|
NM_024529.5(CDC73):c.829-13_829-8del
|
|
|
NM_024529.5(CDC73):c.829-20C>G
|
|
|
NM_024529.5(CDC73):c.829-3C>T
|
|
|
NM_024529.5(CDC73):c.829-4A>G
|
|
|
NM_024529.5(CDC73):c.829-5dup
|
rs755393679
|
|
NM_024529.5(CDC73):c.831T>C (p.Asp277=)
|
rs1572160261
|
|
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.848A>C (p.Lys283Thr)
|
rs1676083588
|
|
NM_024529.5(CDC73):c.849A>G (p.Lys283=)
|
rs757206621
|
|
NM_024529.5(CDC73):c.84G>C (p.Gly28=)
|
|
|
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.858C>T (p.Ile286=)
|
rs2103132194
|
|
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)
|
rs1131691698
|
|
NM_024529.5(CDC73):c.860C>T (p.Pro287Leu)
|
rs1131691352
|
|
NM_024529.5(CDC73):c.861A>G (p.Pro287=)
|
rs2103132198
|
|
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.877dup (p.Tyr293fs)
|
rs2103132218
|
|
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter)
|
rs2103132220
|
|
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.881A>G (p.Asp294Gly)
|
rs1572160332
|
|
NM_024529.5(CDC73):c.882T>C (p.Asp294=)
|
rs112540003
|
|
NM_024529.5(CDC73):c.892T>A (p.Phe298Ile)
|
|
|
NM_024529.5(CDC73):c.892T>G (p.Phe298Val)
|
rs1676084476
|
|
NM_024529.5(CDC73):c.893T>C (p.Phe298Ser)
|
|
|
NM_024529.5(CDC73):c.893del (p.Phe298fs)
|
rs2103132250
|
|
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)
|
rs1675462949
|
|
NM_024529.5(CDC73):c.907+10T>C
|
rs2103132274
|
|
NM_024529.5(CDC73):c.907+11T>C
|
|
|
NM_024529.5(CDC73):c.907+16C>G
|
|
|
NM_024529.5(CDC73):c.907+16C>T
|
|
|
NM_024529.5(CDC73):c.907+17T>C
|
rs2103132285
|
|
NM_024529.5(CDC73):c.907+19A>C
|
|
|
NM_024529.5(CDC73):c.907+19A>G
|
|
|
NM_024529.5(CDC73):c.907+19dup
|
|
|
NM_024529.5(CDC73):c.907+2C>T
|
|
|
NM_024529.5(CDC73):c.907+4A>C
|
|
|
NM_024529.5(CDC73):c.907+4A>G
|
rs768964233
|
|
NM_024529.5(CDC73):c.907+5G>A
|
|
|
NM_024529.5(CDC73):c.907+6T>A
|
rs2103132269
|
|
NM_024529.5(CDC73):c.907+8G>A
|
|
|
NM_024529.5(CDC73):c.907+8G>C
|
rs1676084560
|
|
NM_024529.5(CDC73):c.907+8del
|
|
|
NM_024529.5(CDC73):c.908-10T>A
|
rs1676129844
|
|
NM_024529.5(CDC73):c.908-10T>C
|
rs1676129844
|
|
NM_024529.5(CDC73):c.908-11T>G
|
|
|
NM_024529.5(CDC73):c.908-14C>G
|
|
|
NM_024529.5(CDC73):c.908-16C>T
|
|
|
NM_024529.5(CDC73):c.908-17C>T
|
|
|
NM_024529.5(CDC73):c.908-18G>A
|
rs529592893
|
|
NM_024529.5(CDC73):c.908-19A>C
|
|
|
NM_024529.5(CDC73):c.908-19A>G
|
|
|
NM_024529.5(CDC73):c.908-3T>C
|
rs2103133616
|
|
NM_024529.5(CDC73):c.908-4G>A
|
rs748472788
|
|
NM_024529.5(CDC73):c.908-4G>C
|
|
|
NM_024529.5(CDC73):c.908-6T>C
|
rs2103133605
|
|
NM_024529.5(CDC73):c.908-6del
|
rs563805986
|
|
NM_024529.5(CDC73):c.908-6dup
|
rs563805986
|
|
NM_024529.5(CDC73):c.908-9T>C
|
rs1060503805
|
|
NM_024529.5(CDC73):c.908-9T>G
|
rs1060503805
|
|
NM_024529.5(CDC73):c.90C>T (p.Phe30=)
|
rs2103111735
|
|
NM_024529.5(CDC73):c.910A>G (p.Thr304Ala)
|
|
|
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.915A>G (p.Glu305=)
|
|
|
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp)
|
rs2103133623
|
|
NM_024529.5(CDC73):c.921C>T (p.Phe307=)
|
|
|
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.942C>T (p.Thr314=)
|
|
|
NM_024529.5(CDC73):c.945C>T (p.Tyr315=)
|
rs1572161610
|
|
NM_024529.5(CDC73):c.951T>A (p.Gly317=)
|
|
|
NM_024529.5(CDC73):c.957A>G (p.Thr319=)
|
rs2103133662
|
|
NM_024529.5(CDC73):c.958C>T (p.Leu320=)
|
|
|
NM_024529.5(CDC73):c.963A>G (p.Lys321=)
|
|
|
NM_024529.5(CDC73):c.965C>G (p.Ser322Cys)
|
rs1676130837
|
|
NM_024529.5(CDC73):c.96del (p.Trp32fs)
|
|
|
NM_024529.5(CDC73):c.972+12_972+14dup
|
|
|
NM_024529.5(CDC73):c.972+13G>C
|
|
|
NM_024529.5(CDC73):c.972+14G>T
|
rs1676131155
|
|
NM_024529.5(CDC73):c.972+17G>A
|
rs1309551469
|
|
NM_024529.5(CDC73):c.972+17G>C
|
|
|
NM_024529.5(CDC73):c.972+19A>G
|
|
|
NM_024529.5(CDC73):c.972+19A>T
|
|
|
NM_024529.5(CDC73):c.972+19dup
|
rs2103133685
|
|
NM_024529.5(CDC73):c.972+20G>A
|
|
|
NM_024529.5(CDC73):c.972+3A>G
|
rs1676130958
|
|
NM_024529.5(CDC73):c.972+8A>G
|
|
|
NM_024529.5(CDC73):c.972G>A (p.Thr324=)
|
rs369930569
|
|
NM_024529.5(CDC73):c.973-12A>G
|
|
|
NM_024529.5(CDC73):c.973-13T>A
|
rs2103178012
|
|
NM_024529.5(CDC73):c.973-14T>G
|
|
|
NM_024529.5(CDC73):c.973-16T>A
|
|
|
NM_024529.5(CDC73):c.973-17T>G
|
|
|
NM_024529.5(CDC73):c.973-18A>G
|
|
|
NM_024529.5(CDC73):c.973-18A>T
|
|
|
NM_024529.5(CDC73):c.973-20C>T
|
|
|
NM_024529.5(CDC73):c.973-6T>C
|
rs1677131770
|
|
NM_024529.5(CDC73):c.973-8T>C
|
rs557096653
|
|
NM_024529.5(CDC73):c.973-9C>A
|
rs377332359
|
|
NM_024529.5(CDC73):c.973-9C>G
|
rs377332359
|
|
NM_024529.5(CDC73):c.975G>A (p.Glu325=)
|
|
|
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser)
|
rs2103178025
|
|
NM_024529.5(CDC73):c.979G>A (p.Ala327Thr)
|
|
|
NM_024529.5(CDC73):c.979G>C (p.Ala327Pro)
|
|
|
NM_024529.5(CDC73):c.980C>T (p.Ala327Val)
|
rs1677131810
|
|
NM_024529.5(CDC73):c.981A>C (p.Ala327=)
|
|
|
NM_024529.5(CDC73):c.981A>G (p.Ala327=)
|
rs1263863175
|
|
NM_024529.5(CDC73):c.984T>C (p.Ser328=)
|
|
|
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>A (p.Arg330=)
|
rs1244272523
|
|
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
|
|
NM_024529.5(CDC73):c.997C>G (p.Gln333Glu)
|
|
|
NM_024529.5(CDC73):c.99C>T (p.Pro33=)
|
rs1572139851
|
|
NM_024529.5(CDC73):c.99del (p.Lys34fs)
|
|
|
NM_024529.5(CDC73):c.9C>T (p.Asp3=)
|
rs746910026
|
|