NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)
|
rs6769457
|
0.33560
|
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)
|
rs2338436
|
0.14399
|
NM_181426.2(CCDC39):c.1528-43A>G
|
rs73051767
|
0.13950
|
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val)
|
rs57838737
|
0.04150
|
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)
|
rs112738198
|
0.02615
|
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu)
|
rs61733579
|
0.01895
|
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)
|
rs61733578
|
0.01102
|
NM_181426.2(CCDC39):c.2159-16A>C
|
rs147028259
|
0.00860
|
NM_181426.2(CCDC39):c.1875-20G>A
|
rs73051759
|
0.00467
|
NM_181426.2(CCDC39):c.233G>A (p.Arg78His)
|
rs115952495
|
0.00435
|
NM_181426.2(CCDC39):c.930+12C>G
|
rs1401333
|
0.00338
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)
|
rs147383873
|
0.00265
|
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=)
|
rs79329972
|
0.00226
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg)
|
rs201157338
|
0.00159
|
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)
|
rs61733577
|
0.00156
|
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)
|
rs145506099
|
0.00136
|
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly)
|
rs200277460
|
0.00115
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_181426.2(CCDC39):c.1665+5A>G
|
rs560658609
|
0.00102
|
NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp)
|
rs771462228
|
0.00061
|
NM_181426.2(CCDC39):c.603C>T (p.Ser201=)
|
rs200422639
|
0.00059
|
NM_181426.2(CCDC39):c.900T>A (p.His300Gln)
|
rs201684898
|
0.00057
|
NM_181426.2(CCDC39):c.162T>C (p.Ser54=)
|
rs201308407
|
0.00053
|
NM_181426.2(CCDC39):c.1167+1261A>G
|
rs577069249
|
0.00051
|
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys)
|
rs200459402
|
0.00051
|
NM_181426.2(CCDC39):c.1818T>C (p.His606=)
|
rs199503571
|
0.00046
|
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp)
|
rs111451119
|
0.00043
|
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=)
|
rs374132008
|
0.00034
|
NM_181426.2(CCDC39):c.267T>C (p.Ile89=)
|
rs61733581
|
0.00034
|
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)
|
rs201586263
|
0.00032
|
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala)
|
rs201794121
|
0.00025
|
NM_181426.2(CCDC39):c.1035-5T>C
|
rs200089274
|
0.00021
|
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala)
|
rs200225521
|
0.00021
|
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn)
|
rs374289303
|
0.00020
|
NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val)
|
rs377319302
|
0.00017
|
NM_181426.2(CCDC39):c.547T>C (p.Leu183=)
|
rs375301243
|
0.00017
|
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)
|
rs199526690
|
0.00016
|
NM_181426.2(CCDC39):c.1528-4G>T
|
rs1317352666
|
0.00014
|
NM_181426.2(CCDC39):c.2155T>C (p.Ser719Pro)
|
rs561979601
|
0.00014
|
NM_181426.2(CCDC39):c.1229A>G (p.Gln410Arg)
|
rs376852194
|
0.00013
|
NM_181426.2(CCDC39):c.1362+13T>C
|
rs369141426
|
0.00013
|
NM_181426.2(CCDC39):c.396G>A (p.Leu132=)
|
rs201923286
|
0.00013
|
NM_181426.2(CCDC39):c.1034+11A>G
|
rs780737889
|
0.00011
|
NM_181426.2(CCDC39):c.210+4C>T
|
rs182803063
|
0.00011
|
NM_181426.2(CCDC39):c.255T>C (p.His85=)
|
rs769151570
|
0.00011
|
NM_181426.2(CCDC39):c.357+8T>C
|
rs374226135
|
0.00011
|
NM_181426.2(CCDC39):c.641G>A (p.Arg214His)
|
rs368553676
|
0.00011
|
NM_181426.2(CCDC39):c.885G>A (p.Thr295=)
|
rs775454434
|
0.00011
|
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)
|
rs79353057
|
0.00010
|
NM_181426.2(CCDC39):c.609+15G>T
|
rs186993887
|
0.00010
|
NM_181426.2(CCDC39):c.1728C>T (p.His576=)
|
rs376737530
|
0.00009
|
NM_181426.2(CCDC39):c.1887C>T (p.Arg629=)
|
rs759900725
|
0.00009
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=)
|
rs749497447
|
0.00007
|
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=)
|
rs371164022
|
0.00007
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_181426.2(CCDC39):c.9C>T (p.Ser3=)
|
rs540762763
|
0.00007
|
NM_181426.2(CCDC39):c.1459C>G (p.Leu487Val)
|
rs200651695
|
0.00006
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00006
|
NM_181426.2(CCDC39):c.2005C>A (p.Gln669Lys)
|
rs751147958
|
0.00006
|
NM_181426.2(CCDC39):c.1149G>A (p.Glu383=)
|
rs777802977
|
0.00005
|
NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp)
|
rs368870111
|
0.00005
|
NM_181426.2(CCDC39):c.1436C>T (p.Ala479Val)
|
rs780264719
|
0.00005
|
NM_181426.2(CCDC39):c.261G>T (p.Lys87Asn)
|
rs575350719
|
0.00005
|
NM_181426.2(CCDC39):c.474C>T (p.Leu158=)
|
rs777326219
|
0.00005
|
NM_181426.2(CCDC39):c.670A>G (p.Ile224Val)
|
rs544311014
|
0.00005
|
NM_181426.2(CCDC39):c.-80T>C
|
rs886058200
|
0.00004
|
NM_181426.2(CCDC39):c.137G>A (p.Arg46His)
|
rs376716008
|
0.00004
|
NM_181426.2(CCDC39):c.1665+3G>A
|
rs763769524
|
0.00004
|
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)
|
rs201780665
|
0.00004
|
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg)
|
rs371143749
|
0.00004
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
NM_181426.2(CCDC39):c.42G>A (p.Gly14=)
|
rs759103433
|
0.00004
|
NM_181426.2(CCDC39):c.626C>G (p.Ala209Gly)
|
rs371857720
|
0.00004
|
NM_181426.2(CCDC39):c.795G>T (p.Lys265Asn)
|
rs761112741
|
0.00004
|
NM_181426.2(CCDC39):c.816G>T (p.Glu272Asp)
|
rs775659100
|
0.00004
|
NM_181426.2(CCDC39):c.1034+7A>T
|
rs191242640
|
0.00003
|
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His)
|
rs876657752
|
0.00003
|
NM_181426.2(CCDC39):c.245G>A (p.Ser82Asn)
|
rs776886552
|
0.00003
|
NM_181426.2(CCDC39):c.609+3T>C
|
rs761548484
|
0.00003
|
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu)
|
rs752180569
|
0.00003
|
NM_181426.2(CCDC39):c.1035-10C>A
|
rs763268079
|
0.00002
|
NM_181426.2(CCDC39):c.1065A>C (p.Ile355=)
|
rs200840073
|
0.00002
|
NM_181426.2(CCDC39):c.1247A>G (p.Glu416Gly)
|
rs757515577
|
0.00002
|
NM_181426.2(CCDC39):c.1528-3C>T
|
rs1319606277
|
0.00002
|
NM_181426.2(CCDC39):c.157A>C (p.Asn53His)
|
rs778274253
|
0.00002
|
NM_181426.2(CCDC39):c.1999-2A>T
|
rs1399517463
|
0.00002
|
NM_181426.2(CCDC39):c.424G>A (p.Ala142Thr)
|
rs754066480
|
0.00002
|
NM_181426.2(CCDC39):c.610-15C>T
|
rs184123763
|
0.00002
|
NM_181426.2(CCDC39):c.899A>G (p.His300Arg)
|
rs554681004
|
0.00002
|
NM_181426.2(CCDC39):c.993T>C (p.Asn331=)
|
rs867488884
|
0.00002
|
NM_181426.1(CCDC39):c.-110C>T
|
rs886058201
|
0.00001
|
NM_181426.2(CCDC39):c.1035G>C (p.Arg345Ser)
|
rs770110944
|
0.00001
|
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val)
|
rs564446820
|
0.00001
|
NM_181426.2(CCDC39):c.1159del (p.Asp387fs)
|
rs1275367324
|
0.00001
|
NM_181426.2(CCDC39):c.1167+8T>C
|
rs766629332
|
0.00001
|
NM_181426.2(CCDC39):c.1200T>C (p.Gly400=)
|
rs940815178
|
0.00001
|
NM_181426.2(CCDC39):c.1222G>A (p.Glu408Lys)
|
rs538640066
|
0.00001
|
NM_181426.2(CCDC39):c.1239A>G (p.Thr413=)
|
rs373094293
|
0.00001
|
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)
|
rs375839864
|
0.00001
|
NM_181426.2(CCDC39):c.1363-11A>G
|
rs1553804100
|
0.00001
|
NM_181426.2(CCDC39):c.1490C>T (p.Thr497Ile)
|
rs765773503
|
0.00001
|
NM_181426.2(CCDC39):c.1568G>A (p.Ser523Asn)
|
rs1418008218
|
0.00001
|
NM_181426.2(CCDC39):c.1611C>T (p.Asn537=)
|
rs370618523
|
0.00001
|
NM_181426.2(CCDC39):c.1620C>T (p.Ile540=)
|
rs776608064
|
0.00001
|
NM_181426.2(CCDC39):c.1665+1G>A
|
rs753580394
|
0.00001
|
NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=)
|
rs774871939
|
0.00001
|
NM_181426.2(CCDC39):c.1935G>T (p.Leu645=)
|
rs1030308648
|
0.00001
|
NM_181426.2(CCDC39):c.1998+14del
|
rs779120394
|
0.00001
|
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=)
|
rs376782159
|
0.00001
|
NM_181426.2(CCDC39):c.2101G>A (p.Val701Met)
|
rs373567562
|
0.00001
|
NM_181426.2(CCDC39):c.2102T>G (p.Val701Gly)
|
rs980451572
|
0.00001
|
NM_181426.2(CCDC39):c.211-13T>G
|
rs991528026
|
0.00001
|
NM_181426.2(CCDC39):c.219C>T (p.Cys73=)
|
rs766631443
|
0.00001
|
NM_181426.2(CCDC39):c.232C>T (p.Arg78Cys)
|
rs878855281
|
0.00001
|
NM_181426.2(CCDC39):c.238A>G (p.Thr80Ala)
|
rs368066081
|
0.00001
|
NM_181426.2(CCDC39):c.286C>T (p.Arg96Ter)
|
rs778577109
|
0.00001
|
NM_181426.2(CCDC39):c.331A>G (p.Ile111Val)
|
rs368618125
|
0.00001
|
NM_181426.2(CCDC39):c.347G>C (p.Ser116Thr)
|
rs181573011
|
0.00001
|
NM_181426.2(CCDC39):c.451del (p.Ala151fs)
|
rs1553805885
|
0.00001
|
NM_181426.2(CCDC39):c.470C>T (p.Ala157Val)
|
rs770405043
|
0.00001
|
NM_181426.2(CCDC39):c.531A>G (p.Gln177=)
|
rs779897284
|
0.00001
|
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala)
|
rs752974826
|
0.00001
|
NM_181426.2(CCDC39):c.662A>G (p.Gln221Arg)
|
rs375385797
|
0.00001
|
NM_181426.2(CCDC39):c.664G>T (p.Glu222Ter)
|
rs1047910260
|
0.00001
|
NM_181426.2(CCDC39):c.689C>T (p.Thr230Ile)
|
rs1445512588
|
0.00001
|
NM_181426.2(CCDC39):c.692T>C (p.Ile231Thr)
|
rs748172583
|
0.00001
|
NM_181426.2(CCDC39):c.73A>G (p.Lys25Glu)
|
rs746593370
|
0.00001
|
NM_181426.2(CCDC39):c.818T>C (p.Ile273Thr)
|
rs201125479
|
0.00001
|
NM_181426.2(CCDC39):c.863G>A (p.Arg288His)
|
rs576805965
|
0.00001
|
NM_181426.2(CCDC39):c.867A>G (p.Lys289=)
|
rs1164674720
|
0.00001
|
NC_000003.11:g.(?_180365933)_(180381794_?)dup
|
|
|
NC_000003.11:g.(?_180369169)_(180369341_?)dup
|
|
|
NC_000003.11:g.(?_180379629)_(180379815_?)dup
|
|
|
NC_000003.11:g.(?_180397059)_(180397168_?)dup
|
|
|
NC_000003.12:g.(?_180651381)_(180651553_?)del
|
|
|
NC_000003.12:g.(?_180652143)_(180652286_?)del
|
|
|
NC_000003.12:g.180652267_180652268insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATCCAGC
|
|
|
NM_181426.1(CCDC39):c.-111C>T
|
rs769812639
|
|
NM_181426.1(CCDC39):c.1035delG
|
rs1553804640
|
|
NM_181426.2(CCDC39):c.1006A>T (p.Lys336Ter)
|
|
|
NM_181426.2(CCDC39):c.1007_1010del (p.Lys336fs)
|
|
|
NM_181426.2(CCDC39):c.1019A>G (p.His340Arg)
|
rs2108424748
|
|
NM_181426.2(CCDC39):c.1020T>C (p.His340=)
|
|
|
NM_181426.2(CCDC39):c.1025A>G (p.Glu342Gly)
|
rs1553804760
|
|
NM_181426.2(CCDC39):c.1028C>T (p.Thr343Ile)
|
|
|
NM_181426.2(CCDC39):c.1034+12A>G
|
|
|
NM_181426.2(CCDC39):c.1034+13C>G
|
|
|
NM_181426.2(CCDC39):c.1034+1G>A
|
|
|
NM_181426.2(CCDC39):c.1034+2T>A
|
rs1210953680
|
|
NM_181426.2(CCDC39):c.1035-13A>G
|
|
|
NM_181426.2(CCDC39):c.1035-15A>G
|
|
|
NM_181426.2(CCDC39):c.1035-18G>A
|
|
|
NM_181426.2(CCDC39):c.1035-18G>T
|
|
|
NM_181426.2(CCDC39):c.1035-227_1167+308del
|
rs1718195095
|
|
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
|
rs747980515
|
|
NM_181426.2(CCDC39):c.1059del (p.Asn353fs)
|
|
|
NM_181426.2(CCDC39):c.1062G>A (p.Glu354=)
|
|
|
NM_181426.2(CCDC39):c.1072del (p.Thr358fs)
|
rs587778822
|
|
NM_181426.2(CCDC39):c.1073_1076del (p.Thr358fs)
|
rs878855279
|
|
NM_181426.2(CCDC39):c.1077A>G (p.Lys359=)
|
|
|
NM_181426.2(CCDC39):c.107A>G (p.Asp36Gly)
|
|
|
NM_181426.2(CCDC39):c.1086G>A (p.Glu362=)
|
|
|
NM_181426.2(CCDC39):c.1113dup (p.Glu372fs)
|
|
|
NM_181426.2(CCDC39):c.1129T>C (p.Leu377=)
|
|
|
NM_181426.2(CCDC39):c.112A>T (p.Arg38Ter)
|
|
|
NM_181426.2(CCDC39):c.1133A>G (p.Glu378Gly)
|
rs1718205726
|
|
NM_181426.2(CCDC39):c.1143A>G (p.Leu381=)
|
|
|
NM_181426.2(CCDC39):c.114_115del (p.Arg38fs)
|
|
|
NM_181426.2(CCDC39):c.1158del (p.Asp387fs)
|
|
|
NM_181426.2(CCDC39):c.1167+10A>G
|
|
|
NM_181426.2(CCDC39):c.1167+1248A>G
|
rs1718166306
|
|
NM_181426.2(CCDC39):c.1167+1258_1167+1270del
|
|
|
NM_181426.2(CCDC39):c.1167+15dup
|
|
|
NM_181426.2(CCDC39):c.1167+16A>G
|
|
|
NM_181426.2(CCDC39):c.1167+1G>A
|
|
|
NM_181426.2(CCDC39):c.1167+3A>G
|
|
|
NM_181426.2(CCDC39):c.1167G>A (p.Lys389=)
|
rs1718204545
|
|
NM_181426.2(CCDC39):c.1168-10T>C
|
|
|
NM_181426.2(CCDC39):c.1168-14A>G
|
|
|
NM_181426.2(CCDC39):c.1168-17A>G
|
|
|
NM_181426.2(CCDC39):c.1168-18T>C
|
|
|
NM_181426.2(CCDC39):c.1168-2A>C
|
rs1468349011
|
|
NM_181426.2(CCDC39):c.1168-6_1168-4del
|
|
|
NM_181426.2(CCDC39):c.1179T>G (p.Val393=)
|
|
|
NM_181426.2(CCDC39):c.1183C>T (p.Leu395=)
|
|
|
NM_181426.2(CCDC39):c.1198G>A (p.Gly400Ser)
|
rs147383873
|
|
NM_181426.2(CCDC39):c.1199del (p.Gly400fs)
|
|
|
NM_181426.2(CCDC39):c.1202T>C (p.Val401Ala)
|
|
|
NM_181426.2(CCDC39):c.1208_1209insGGTGTGCTGTTGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGTGTGCTGTT (p.Phe403fs)
|
rs2108421980
|
|
NM_181426.2(CCDC39):c.1228C>T (p.Gln410Ter)
|
|
|
NM_181426.2(CCDC39):c.1233T>A (p.Thr411=)
|
|
|
NM_181426.2(CCDC39):c.1236G>A (p.Glu412=)
|
|
|
NM_181426.2(CCDC39):c.1238C>G (p.Thr413Arg)
|
|
|
NM_181426.2(CCDC39):c.1242del (p.Met414fs)
|
rs1553804220
|
|
NM_181426.2(CCDC39):c.1244_1261delinsGG (p.Lys415fs)
|
rs1718119792
|
|
NM_181426.2(CCDC39):c.1252del (p.Ala418fs)
|
|
|
NM_181426.2(CCDC39):c.1257_1258insA (p.Leu420fs)
|
|
|
NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro)
|
rs1718118993
|
|
NM_181426.2(CCDC39):c.1293A>G (p.Lys431=)
|
|
|
NM_181426.2(CCDC39):c.1311dup (p.Gln438fs)
|
rs1553804209
|
|
NM_181426.2(CCDC39):c.132G>A (p.Glu44=)
|
|
|
NM_181426.2(CCDC39):c.1334T>G (p.Leu445Trp)
|
|
|
NM_181426.2(CCDC39):c.1344A>T (p.Gln448His)
|
rs878974039
|
|
NM_181426.2(CCDC39):c.1345G>T (p.Glu449Ter)
|
|
|
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)
|
rs6769457
|
|
NM_181426.2(CCDC39):c.135A>G (p.Leu45=)
|
|
|
NM_181426.2(CCDC39):c.1362+16A>G
|
|
|
NM_181426.2(CCDC39):c.1362+19A>C
|
|
|
NM_181426.2(CCDC39):c.1362+20A>T
|
rs1343116989
|
|
NM_181426.2(CCDC39):c.1362G>A (p.Gln454=)
|
|
|
NM_181426.2(CCDC39):c.1363-12A>T
|
|
|
NM_181426.2(CCDC39):c.1363-13T>A
|
|
|
NM_181426.2(CCDC39):c.1363-13del
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1363-14_1363-13dup
|
|
|
NM_181426.2(CCDC39):c.1363-17_1363-16insC
|
|
|
NM_181426.2(CCDC39):c.1363-23dup
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1363-7_1363-6del
|
rs764514126
|
|
NM_181426.2(CCDC39):c.1363-8T>G
|
|
|
NM_181426.2(CCDC39):c.1363-9C>A
|
|
|
NM_181426.2(CCDC39):c.1381del (p.Val461fs)
|
|
|
NM_181426.2(CCDC39):c.1384G>T (p.Glu462Ter)
|
|
|
NM_181426.2(CCDC39):c.1388G>A (p.Arg463Gln)
|
|
|
NM_181426.2(CCDC39):c.139_142del (p.Glu47fs)
|
|
|
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=)
|
|
|
NM_181426.2(CCDC39):c.1410A>G (p.Gly470=)
|
|
|
NM_181426.2(CCDC39):c.1411G>T (p.Glu471Ter)
|
|
|
NM_181426.2(CCDC39):c.1415_1417del (p.Ile472del)
|
|
|
NM_181426.2(CCDC39):c.141G>A (p.Glu47=)
|
|
|
NM_181426.2(CCDC39):c.1437G>A (p.Ala479=)
|
|
|
NM_181426.2(CCDC39):c.1437G>T (p.Ala479=)
|
rs1429796397
|
|
NM_181426.2(CCDC39):c.144T>C (p.Tyr48=)
|
|
|
NM_181426.2(CCDC39):c.1456dup (p.Glu486fs)
|
rs1164781857
|
|
NM_181426.2(CCDC39):c.1460T>C (p.Leu487Pro)
|
rs1718084209
|
|
NM_181426.2(CCDC39):c.1470T>G (p.Ser490=)
|
|
|
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)
|
rs751239231
|
|
NM_181426.2(CCDC39):c.1485A>G (p.Lys495=)
|
|
|
NM_181426.2(CCDC39):c.1485dup (p.Ser496fs)
|
rs751239231
|
|
NM_181426.2(CCDC39):c.1486T>A (p.Ser496Thr)
|
|
|
NM_181426.2(CCDC39):c.1491A>C (p.Thr497=)
|
|
|
NM_181426.2(CCDC39):c.1491A>G (p.Thr497=)
|
|
|
NM_181426.2(CCDC39):c.1506A>G (p.Glu502=)
|
|
|
NM_181426.2(CCDC39):c.1525C>T (p.His509Tyr)
|
rs760511976
|
|
NM_181426.2(CCDC39):c.1527+11C>T
|
|
|
NM_181426.2(CCDC39):c.1527+18C>T
|
|
|
NM_181426.2(CCDC39):c.1528-10T>C
|
|
|
NM_181426.2(CCDC39):c.1528-11_1528-10del
|
rs765966793
|
|
NM_181426.2(CCDC39):c.1528-12T>A
|
|
|
NM_181426.2(CCDC39):c.1528-12del
|
|
|
NM_181426.2(CCDC39):c.1528-19C>A
|
|
|
NM_181426.2(CCDC39):c.1528-2A>G
|
|
|
NM_181426.2(CCDC39):c.1528-2A>T
|
|
|
NM_181426.2(CCDC39):c.1528-6T>A
|
rs1718023157
|
|
NM_181426.2(CCDC39):c.1540_1544del (p.Phe514fs)
|
rs2108420039
|
|
NM_181426.2(CCDC39):c.1557T>C (p.His519=)
|
|
|
NM_181426.2(CCDC39):c.1575A>G (p.Glu525=)
|
|
|
NM_181426.2(CCDC39):c.1579C>T (p.Gln527Ter)
|
|
|
NM_181426.2(CCDC39):c.157_160del (p.Asn53fs)
|
|
|
NM_181426.2(CCDC39):c.1593C>A (p.Thr531=)
|
|
|
NM_181426.2(CCDC39):c.1602T>C (p.Asn534=)
|
|
|
NM_181426.2(CCDC39):c.1603G>T (p.Glu535Ter)
|
|
|
NM_181426.2(CCDC39):c.1606C>A (p.Leu536Ile)
|
|
|
NM_181426.2(CCDC39):c.1613T>G (p.Leu538Arg)
|
|
|
NM_181426.2(CCDC39):c.1621G>A (p.Asp541Asn)
|
rs764908281
|
|
NM_181426.2(CCDC39):c.1625G>T (p.Arg542Ile)
|
|
|
NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs)
|
|
|
NM_181426.2(CCDC39):c.1633A>G (p.Lys545Glu)
|
rs2108419987
|
|
NM_181426.2(CCDC39):c.1636G>T (p.Glu546Ter)
|
|
|
NM_181426.2(CCDC39):c.1639C>T (p.Leu547Phe)
|
|
|
NM_181426.2(CCDC39):c.163_164del (p.Met55fs)
|
rs878855280
|
|
NM_181426.2(CCDC39):c.1644del (p.Asp548fs)
|
rs863224531
|
|
NM_181426.2(CCDC39):c.1650C>T (p.Ala550=)
|
|
|
NM_181426.2(CCDC39):c.1665+20A>C
|
|
|
NM_181426.2(CCDC39):c.1665+7T>C
|
|
|
NM_181426.2(CCDC39):c.1665+9A>G
|
|
|
NM_181426.2(CCDC39):c.1666-10A>G
|
|
|
NM_181426.2(CCDC39):c.1666-11T>A
|
|
|
NM_181426.2(CCDC39):c.1666-8G>A
|
|
|
NM_181426.2(CCDC39):c.1666-8G>T
|
|
|
NM_181426.2(CCDC39):c.1666-9C>G
|
rs1717971093
|
|
NM_181426.2(CCDC39):c.1666-9C>T
|
|
|
NM_181426.2(CCDC39):c.1674_1675dup (p.Ile559fs)
|
rs2108418891
|
|
NM_181426.2(CCDC39):c.1687C>T (p.Leu563Phe)
|
|
|
NM_181426.2(CCDC39):c.1689T>A (p.Leu563=)
|
|
|
NM_181426.2(CCDC39):c.1693A>T (p.Lys565Ter)
|
|
|
NM_181426.2(CCDC39):c.1696C>T (p.Leu566Phe)
|
|
|
NM_181426.2(CCDC39):c.1697T>C (p.Leu566Pro)
|
rs1060502868
|
|
NM_181426.2(CCDC39):c.1698T>C (p.Leu566=)
|
|
|
NM_181426.2(CCDC39):c.1701A>G (p.Glu567=)
|
|
|
NM_181426.2(CCDC39):c.1704T>G (p.Val568=)
|
|
|
NM_181426.2(CCDC39):c.1705A>T (p.Lys569Ter)
|
|
|
NM_181426.2(CCDC39):c.1708C>G (p.Arg570Gly)
|
|
|
NM_181426.2(CCDC39):c.1709G>T (p.Arg570Leu)
|
|
|
NM_181426.2(CCDC39):c.1716A>G (p.Arg572=)
|
|
|
NM_181426.2(CCDC39):c.1731T>C (p.Ser577=)
|
|
|
NM_181426.2(CCDC39):c.1731dup (p.Lys578Ter)
|
|
|
NM_181426.2(CCDC39):c.1737A>G (p.Ala579=)
|
|
|
NM_181426.2(CCDC39):c.1747C>A (p.Leu583Ile)
|
|
|
NM_181426.2(CCDC39):c.1753del (p.Ser584_Leu585insTer)
|
|
|
NM_181426.2(CCDC39):c.1756del (p.Glu586fs)
|
rs1285431486
|
|
NM_181426.2(CCDC39):c.1767A>G (p.Lys589=)
|
|
|
NM_181426.2(CCDC39):c.1773A>G (p.Gln591=)
|
|
|
NM_181426.2(CCDC39):c.1795C>A (p.Arg599=)
|
rs201780665
|
|
NM_181426.2(CCDC39):c.1797A>C (p.Arg599=)
|
|
|
NM_181426.2(CCDC39):c.1801G>T (p.Glu601Ter)
|
|
|
NM_181426.2(CCDC39):c.1808T>C (p.Ile603Thr)
|
|
|
NM_181426.2(CCDC39):c.1825A>G (p.Met609Val)
|
|
|
NM_181426.2(CCDC39):c.1833del (p.Ser612fs)
|
rs1256848235
|
|
NM_181426.2(CCDC39):c.1848del (p.Arg615_Tyr616insTer)
|
rs1576941580
|
|
NM_181426.2(CCDC39):c.1869C>T (p.Asn623=)
|
|
|
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)
|
rs1560086701
|
|
NM_181426.2(CCDC39):c.1874+1G>A
|
rs1553803540
|
|
NM_181426.2(CCDC39):c.1874+2T>C
|
|
|
NM_181426.2(CCDC39):c.1874G>A (p.Ser625Asn)
|
|
|
NM_181426.2(CCDC39):c.1875-10T>A
|
|
|
NM_181426.2(CCDC39):c.1875-14C>T
|
|
|
NM_181426.2(CCDC39):c.1875-14_1875-13del
|
|
|
NM_181426.2(CCDC39):c.1875-17T>A
|
|
|
NM_181426.2(CCDC39):c.1875-1G>C
|
|
|
NM_181426.2(CCDC39):c.1875-20del
|
|
|
NM_181426.2(CCDC39):c.1875-9T>C
|
|
|
NM_181426.2(CCDC39):c.1876_1877dup (p.Glu627fs)
|
|
|
NM_181426.2(CCDC39):c.1878T>G (p.Thr626=)
|
|
|
NM_181426.2(CCDC39):c.1886G>A (p.Arg629His)
|
|
|
NM_181426.2(CCDC39):c.1890G>A (p.Glu630=)
|
|
|
NM_181426.2(CCDC39):c.1898_1901del (p.Ser633fs)
|
|
|
NM_181426.2(CCDC39):c.18G>C (p.Leu6=)
|
|
|
NM_181426.2(CCDC39):c.1908G>A (p.Glu636=)
|
|
|
NM_181426.2(CCDC39):c.1920T>C (p.Asn640=)
|
|
|
NM_181426.2(CCDC39):c.1922G>A (p.Arg641Lys)
|
|
|
NM_181426.2(CCDC39):c.1935G>A (p.Leu645=)
|
|
|
NM_181426.2(CCDC39):c.1939_1940del (p.Val647fs)
|
|
|
NM_181426.2(CCDC39):c.1953T>C (p.Pro651=)
|
|
|
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)
|
rs1717695462
|
|
NM_181426.2(CCDC39):c.1965A>G (p.Glu655=)
|
|
|
NM_181426.2(CCDC39):c.1968G>A (p.Glu656=)
|
|
|
NM_181426.2(CCDC39):c.1998+10A>G
|
|
|
NM_181426.2(CCDC39):c.1998+13_1998+16del
|
|
|
NM_181426.2(CCDC39):c.1998+20A>G
|
|
|
NM_181426.2(CCDC39):c.1999-12T>C
|
|
|
NM_181426.2(CCDC39):c.1999-1G>C
|
|
|
NM_181426.2(CCDC39):c.1999-3T>C
|
|
|
NM_181426.2(CCDC39):c.1999-8C>T
|
|
|
NM_181426.2(CCDC39):c.2017G>T (p.Glu673Ter)
|
rs762287443
|
|
NM_181426.2(CCDC39):c.2019A>G (p.Glu673=)
|
|
|
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)
|
rs1174553107
|
|
NM_181426.2(CCDC39):c.2061A>G (p.Lys687=)
|
|
|
NM_181426.2(CCDC39):c.2061dup (p.Ala688fs)
|
rs2108406611
|
|
NM_181426.2(CCDC39):c.207A>G (p.Thr69=)
|
|
|
NM_181426.2(CCDC39):c.2081C>T (p.Ala694Val)
|
rs1717386263
|
|
NM_181426.2(CCDC39):c.2082T>G (p.Ala694=)
|
|
|
NM_181426.2(CCDC39):c.210+12G>T
|
|
|
NM_181426.2(CCDC39):c.210+17T>C
|
|
|
NM_181426.2(CCDC39):c.210+20T>G
|
|
|
NM_181426.2(CCDC39):c.210+2T>C
|
|
|
NM_181426.2(CCDC39):c.210+9A>C
|
|
|
NM_181426.2(CCDC39):c.2103G>T (p.Val701=)
|
|
|
NM_181426.2(CCDC39):c.211-13del
|
|
|
NM_181426.2(CCDC39):c.211-14G>T
|
|
|
NM_181426.2(CCDC39):c.211-16G>A
|
|
|
NM_181426.2(CCDC39):c.211-6C>A
|
|
|
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=)
|
|
|
NM_181426.2(CCDC39):c.2127T>C (p.Tyr709=)
|
|
|
NM_181426.2(CCDC39):c.2131C>A (p.Gln711Lys)
|
|
|
NM_181426.2(CCDC39):c.2136T>C (p.Ser712=)
|
|
|
NM_181426.2(CCDC39):c.2152C>T (p.Pro718Ser)
|
rs1292113274
|
|
NM_181426.2(CCDC39):c.2158+13T>C
|
|
|
NM_181426.2(CCDC39):c.2158+19T>G
|
|
|
NM_181426.2(CCDC39):c.2158+6T>C
|
rs1717382696
|
|
NM_181426.2(CCDC39):c.2158+9G>A
|
rs2108406532
|
|
NM_181426.2(CCDC39):c.2159-13T>C
|
|
|
NM_181426.2(CCDC39):c.2159-14G>A
|
|
|
NM_181426.2(CCDC39):c.2159-14G>T
|
|
|
NM_181426.2(CCDC39):c.2159-15T>G
|
|
|
NM_181426.2(CCDC39):c.2159-4T>G
|
|
|
NM_181426.2(CCDC39):c.2159-9A>G
|
|
|
NM_181426.2(CCDC39):c.215T>C (p.Leu72Pro)
|
|
|
NM_181426.2(CCDC39):c.216_217del (p.Cys73fs)
|
|
|
NM_181426.2(CCDC39):c.2170G>A (p.Glu724Lys)
|
|
|
NM_181426.2(CCDC39):c.2172G>A (p.Glu724=)
|
|
|
NM_181426.2(CCDC39):c.2178A>C (p.Lys726Asn)
|
rs2108406240
|
|
NM_181426.2(CCDC39):c.2184A>G (p.Gln728=)
|
|
|
NM_181426.2(CCDC39):c.2190del (p.Glu731fs)
|
rs587778820
|
|
NM_181426.2(CCDC39):c.2194C>T (p.Gln732Ter)
|
|
|
NM_181426.2(CCDC39):c.2205T>C (p.Ala735=)
|
|
|
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter)
|
rs772219642
|
|
NM_181426.2(CCDC39):c.2250del (p.Gln751fs)
|
|
|
NM_181426.2(CCDC39):c.2265+11C>T
|
|
|
NM_181426.2(CCDC39):c.2265+15C>A
|
|
|
NM_181426.2(CCDC39):c.2265+16A>G
|
|
|
NM_181426.2(CCDC39):c.22G>C (p.Glu8Gln)
|
rs1553807998
|
|
NM_181426.2(CCDC39):c.231G>A (p.Glu77=)
|
|
|
NM_181426.2(CCDC39):c.234T>G (p.Arg78=)
|
|
|
NM_181426.2(CCDC39):c.246T>C (p.Ser82=)
|
|
|
NM_181426.2(CCDC39):c.24G>A (p.Glu8=)
|
|
|
NM_181426.2(CCDC39):c.25C>T (p.Leu9=)
|
rs886038750
|
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NM_181426.2(CCDC39):c.264C>T (p.Ala88=)
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|
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NM_181426.2(CCDC39):c.269C>T (p.Ala90Val)
|
rs2108430167
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NM_181426.2(CCDC39):c.270T>G (p.Ala90=)
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NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter)
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NM_181426.2(CCDC39):c.284del (p.Gly95fs)
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NM_181426.2(CCDC39):c.285A>G (p.Gly95=)
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NM_181426.2(CCDC39):c.290T>C (p.Val97Ala)
|
rs1711752710
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NM_181426.2(CCDC39):c.294A>G (p.Lys98=)
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NM_181426.2(CCDC39):c.295G>C (p.Asp99His)
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NM_181426.2(CCDC39):c.297T>C (p.Asp99=)
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NM_181426.2(CCDC39):c.297T>G (p.Asp99Glu)
|
rs763798585
|
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NM_181426.2(CCDC39):c.29A>T (p.His10Leu)
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NM_181426.2(CCDC39):c.307C>A (p.Arg103=)
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NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp)
|
rs61733582
|
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NM_181426.2(CCDC39):c.308G>A (p.Arg103Gln)
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NM_181426.2(CCDC39):c.308G>C (p.Arg103Pro)
|
rs766541691
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NM_181426.2(CCDC39):c.327T>C (p.Ala109=)
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NM_181426.2(CCDC39):c.341del (p.Lys114fs)
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NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)
|
rs1560092712
|
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NM_181426.2(CCDC39):c.352_354del (p.Lys118del)
|
rs1245822059
|
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NM_181426.2(CCDC39):c.357+11A>G
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NM_181426.2(CCDC39):c.357+14T>C
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NM_181426.2(CCDC39):c.358-14T>C
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NM_181426.2(CCDC39):c.358-18T>C
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NM_181426.2(CCDC39):c.358-19C>G
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NM_181426.2(CCDC39):c.35A>G (p.Glu12Gly)
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NM_181426.2(CCDC39):c.360T>C (p.Asn120=)
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NM_181426.2(CCDC39):c.364A>G (p.Ile122Val)
|
rs371541452
|
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NM_181426.2(CCDC39):c.367T>G (p.Phe123Val)
|
rs2108429552
|
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NM_181426.2(CCDC39):c.36G>A (p.Glu12=)
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NM_181426.2(CCDC39):c.388G>T (p.Asp130Tyr)
|
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NM_181426.2(CCDC39):c.389A>G (p.Asp130Gly)
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NM_181426.2(CCDC39):c.395T>C (p.Leu132Ser)
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NM_181426.2(CCDC39):c.402T>A (p.Cys134Ter)
|
rs1560092440
|
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NM_181426.2(CCDC39):c.420G>A (p.Gln140=)
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NM_181426.2(CCDC39):c.425C>T (p.Ala142Val)
|
rs1711721023
|
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NM_181426.2(CCDC39):c.426A>G (p.Ala142=)
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|
NM_181426.2(CCDC39):c.432G>A (p.Glu144=)
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NM_181426.2(CCDC39):c.435C>T (p.Ala145=)
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NM_181426.2(CCDC39):c.436del (p.Trp146fs)
|
rs2108429507
|
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NM_181426.2(CCDC39):c.450A>G (p.Ser150=)
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NM_181426.2(CCDC39):c.455A>C (p.His152Pro)
|
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NM_181426.2(CCDC39):c.462T>C (p.Asp154=)
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NM_181426.2(CCDC39):c.485dup (p.Tyr163fs)
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|
NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter)
|
rs1711717951
|
|
NM_181426.2(CCDC39):c.501T>A (p.Asp167Glu)
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|
|
NM_181426.2(CCDC39):c.514A>G (p.Arg172Gly)
|
rs757331133
|
|
NM_181426.2(CCDC39):c.516+11A>G
|
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NM_181426.2(CCDC39):c.516+11A>T
|
rs1436542350
|
|
NM_181426.2(CCDC39):c.516+12_516+14del
|
|
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NM_181426.2(CCDC39):c.516+14A>C
|
rs377363801
|
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NM_181426.2(CCDC39):c.516+16T>A
|
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NM_181426.2(CCDC39):c.516+18G>A
|
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NM_181426.2(CCDC39):c.516+18G>T
|
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NM_181426.2(CCDC39):c.516+1G>A
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NM_181426.2(CCDC39):c.516+20A>T
|
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NM_181426.2(CCDC39):c.516+9T>C
|
rs2108429420
|
|
NM_181426.2(CCDC39):c.517-13A>G
|
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NM_181426.2(CCDC39):c.517-14T>C
|
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NM_181426.2(CCDC39):c.517-15A>G
|
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NM_181426.2(CCDC39):c.517-17A>G
|
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NM_181426.2(CCDC39):c.517-18T>C
|
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NM_181426.2(CCDC39):c.517-7A>T
|
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|
NM_181426.2(CCDC39):c.526_527del (p.Leu176fs)
|
rs780175755
|
|
NM_181426.2(CCDC39):c.529C>T (p.Gln177Ter)
|
|
|
NM_181426.2(CCDC39):c.52C>T (p.Pro18Ser)
|
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|
NM_181426.2(CCDC39):c.539G>T (p.Arg180Ile)
|
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NM_181426.2(CCDC39):c.541C>T (p.Leu181=)
|
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|
NM_181426.2(CCDC39):c.542dup (p.Thr182fs)
|
|
|
NM_181426.2(CCDC39):c.547_548del (p.Leu183fs)
|
rs758482424
|
|
NM_181426.2(CCDC39):c.552A>G (p.Glu184=)
|
|
|
NM_181426.2(CCDC39):c.570G>A (p.Lys190=)
|
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NM_181426.2(CCDC39):c.570G>T (p.Lys190Asn)
|
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|
NM_181426.2(CCDC39):c.570_571del (p.Lys190fs)
|
rs1560092160
|
|
NM_181426.2(CCDC39):c.581A>G (p.Asn194Ser)
|
|
|
NM_181426.2(CCDC39):c.588T>G (p.Leu196=)
|
|
|
NM_181426.2(CCDC39):c.590_591dup (p.Glu198fs)
|
rs1553805740
|
|
NM_181426.2(CCDC39):c.597T>C (p.Thr199=)
|
|
|
NM_181426.2(CCDC39):c.606A>T (p.Ala202=)
|
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NM_181426.2(CCDC39):c.610-16G>T
|
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NM_181426.2(CCDC39):c.610-20C>T
|
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|
NM_181426.2(CCDC39):c.610-2A>C
|
|
|
NM_181426.2(CCDC39):c.610-7T>C
|
rs1576949405
|
|
NM_181426.2(CCDC39):c.610-8_610-5del
|
|
|
NM_181426.2(CCDC39):c.610-9G>A
|
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NM_181426.2(CCDC39):c.610-9G>C
|
|
|
NM_181426.2(CCDC39):c.610_613del
|
rs1415346246
|
|
NM_181426.2(CCDC39):c.618G>C (p.Leu206Phe)
|
rs1048916587
|
|
NM_181426.2(CCDC39):c.63C>A (p.Asn21Lys)
|
rs775366536
|
|
NM_181426.2(CCDC39):c.63C>T (p.Asn21=)
|
|
|
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys)
|
rs749794148
|
|
NM_181426.2(CCDC39):c.644A>C (p.Lys215Thr)
|
|
|
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del)
|
rs771715698
|
|
NM_181426.2(CCDC39):c.654T>C (p.Asn218=)
|
rs886058199
|
|
NM_181426.2(CCDC39):c.662_663del (p.Gln221fs)
|
|
|
NM_181426.2(CCDC39):c.664_666del (p.Glu222del)
|
rs1711686691
|
|
NM_181426.2(CCDC39):c.666A>G (p.Glu222=)
|
|
|
NM_181426.2(CCDC39):c.669C>A (p.Leu223=)
|
|
|
NM_181426.2(CCDC39):c.669_670insTA (p.Ile224Ter)
|
|
|
NM_181426.2(CCDC39):c.706A>T (p.Lys236Ter)
|
|
|
NM_181426.2(CCDC39):c.714T>C (p.Asp238=)
|
|
|
NM_181426.2(CCDC39):c.721A>G (p.Ile241Val)
|
|
|
NM_181426.2(CCDC39):c.723A>T (p.Ile241=)
|
|
|
NM_181426.2(CCDC39):c.72C>T (p.Asn24=)
|
|
|
NM_181426.2(CCDC39):c.730T>C (p.Cys244Arg)
|
|
|
NM_181426.2(CCDC39):c.738+11T>C
|
|
|
NM_181426.2(CCDC39):c.738+7T>C
|
|
|
NM_181426.2(CCDC39):c.739-13G>A
|
|
|
NM_181426.2(CCDC39):c.739-17_739-16del
|
|
|
NM_181426.2(CCDC39):c.739-19A>G
|
|
|
NM_181426.2(CCDC39):c.739-7A>G
|
rs2108426504
|
|
NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys)
|
|
|
NM_181426.2(CCDC39):c.74del (p.Lys25fs)
|
|
|
NM_181426.2(CCDC39):c.764C>T (p.Thr255Met)
|
|
|
NM_181426.2(CCDC39):c.765G>A (p.Thr255=)
|
|
|
NM_181426.2(CCDC39):c.765G>T (p.Thr255=)
|
|
|
NM_181426.2(CCDC39):c.779A>G (p.Asn260Ser)
|
|
|
NM_181426.2(CCDC39):c.781T>C (p.Leu261=)
|
|
|
NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter)
|
rs779435800
|
|
NM_181426.2(CCDC39):c.79C>T (p.Leu27=)
|
|
|
NM_181426.2(CCDC39):c.7A>C (p.Ser3Arg)
|
rs757699907
|
|
NM_181426.2(CCDC39):c.7A>G (p.Ser3Gly)
|
|
|
NM_181426.2(CCDC39):c.801G>A (p.Lys267=)
|
|
|
NM_181426.2(CCDC39):c.811A>G (p.Ser271Gly)
|
|
|
NM_181426.2(CCDC39):c.811del (p.Ser271fs)
|
|
|
NM_181426.2(CCDC39):c.813T>C (p.Ser271=)
|
|
|
NM_181426.2(CCDC39):c.816G>A (p.Glu272=)
|
|
|
NM_181426.2(CCDC39):c.81G>A (p.Leu27=)
|
|
|
NM_181426.2(CCDC39):c.822G>A (p.Gly274=)
|
|
|
NM_181426.2(CCDC39):c.830C>T (p.Thr277Ile)
|
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
NM_181426.2(CCDC39):c.840_841del (p.Arg282fs)
|
|
|
NM_181426.2(CCDC39):c.841A>T (p.Lys281Ter)
|
|
|
NM_181426.2(CCDC39):c.852T>C (p.Ser284=)
|
|
|
NM_181426.2(CCDC39):c.861T>C (p.Asp287=)
|
|
|
NM_181426.2(CCDC39):c.873A>G (p.Leu291=)
|
|
|
NM_181426.2(CCDC39):c.888A>G (p.Ala296=)
|
|
|
NM_181426.2(CCDC39):c.891T>G (p.Tyr297Ter)
|
|
|
NM_181426.2(CCDC39):c.90+12T>A
|
|
|
NM_181426.2(CCDC39):c.90+15A>G
|
|
|
NM_181426.2(CCDC39):c.90+16G>T
|
|
|
NM_181426.2(CCDC39):c.90+17C>G
|
|
|
NM_181426.2(CCDC39):c.90+1G>C
|
|
|
NM_181426.2(CCDC39):c.90+7T>A
|
|
|
NM_181426.2(CCDC39):c.90+7T>G
|
|
|
NM_181426.2(CCDC39):c.904A>G (p.Thr302Ala)
|
rs1711543464
|
|
NM_181426.2(CCDC39):c.91-17G>A
|
|
|
NM_181426.2(CCDC39):c.91-20A>G
|
|
|
NM_181426.2(CCDC39):c.91-4A>G
|
|
|
NM_181426.2(CCDC39):c.918G>A (p.Gln306=)
|
|
|
NM_181426.2(CCDC39):c.930+12C>A
|
|
|
NM_181426.2(CCDC39):c.930+14A>C
|
|
|
NM_181426.2(CCDC39):c.930+17_930+18del
|
rs765920330
|
|
NM_181426.2(CCDC39):c.930+1G>A
|
|
|
NM_181426.2(CCDC39):c.930+9A>G
|
rs188183242
|
|
NM_181426.2(CCDC39):c.930+9A>T
|
|
|
NM_181426.2(CCDC39):c.931-10TAA[3]
|
|
|
NM_181426.2(CCDC39):c.931-16G>A
|
|
|
NM_181426.2(CCDC39):c.931-19T>C
|
|
|
NM_181426.2(CCDC39):c.931-1G>T
|
|
|
NM_181426.2(CCDC39):c.931-20G>C
|
|
|
NM_181426.2(CCDC39):c.931-20G>T
|
|
|
NM_181426.2(CCDC39):c.931-9A>G
|
|
|
NM_181426.2(CCDC39):c.934G>T (p.Asp312Tyr)
|
rs1461822875
|
|
NM_181426.2(CCDC39):c.945_951del (p.Lys315_Ala316insTer)
|
rs1560090006
|
|
NM_181426.2(CCDC39):c.949dup (p.Thr317fs)
|
|
|
NM_181426.2(CCDC39):c.954G>A (p.Val318=)
|
|
|
NM_181426.2(CCDC39):c.95C>G (p.Ser32Ter)
|
|
|
NM_181426.2(CCDC39):c.983T>C (p.Leu328Pro)
|
|
|
NM_181426.2(CCDC39):c.984G>A (p.Leu328=)
|
|
|
NM_181426.2(CCDC39):c.985A>G (p.Arg329Gly)
|
|
|
NM_181426.2(CCDC39):c.991A>T (p.Asn331Tyr)
|
rs1553804772
|
|