ClinVar Miner

List of variants in gene CCDC39 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 571
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HGVS dbSNP gnomAD frequency
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
NM_181426.2(CCDC39):c.264C>T (p.Ala88=)
NM_181426.2(CCDC39):c.269C>T (p.Ala90Val) rs2108430167
NM_181426.2(CCDC39):c.270T>G (p.Ala90=)
NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter)
NM_181426.2(CCDC39):c.284del (p.Gly95fs)
NM_181426.2(CCDC39):c.285A>G (p.Gly95=)
NM_181426.2(CCDC39):c.290T>C (p.Val97Ala) rs1711752710
NM_181426.2(CCDC39):c.294A>G (p.Lys98=)
NM_181426.2(CCDC39):c.295G>C (p.Asp99His)
NM_181426.2(CCDC39):c.297T>C (p.Asp99=)
NM_181426.2(CCDC39):c.297T>G (p.Asp99Glu) rs763798585
NM_181426.2(CCDC39):c.29A>T (p.His10Leu)
NM_181426.2(CCDC39):c.307C>A (p.Arg103=)
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp) rs61733582
NM_181426.2(CCDC39):c.308G>A (p.Arg103Gln)
NM_181426.2(CCDC39):c.308G>C (p.Arg103Pro) rs766541691
NM_181426.2(CCDC39):c.327T>C (p.Ala109=)
NM_181426.2(CCDC39):c.341del (p.Lys114fs)
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181426.2(CCDC39):c.352_354del (p.Lys118del) rs1245822059
NM_181426.2(CCDC39):c.357+11A>G
NM_181426.2(CCDC39):c.357+14T>C
NM_181426.2(CCDC39):c.358-14T>C
NM_181426.2(CCDC39):c.358-18T>C
NM_181426.2(CCDC39):c.358-19C>G
NM_181426.2(CCDC39):c.35A>G (p.Glu12Gly)
NM_181426.2(CCDC39):c.360T>C (p.Asn120=)
NM_181426.2(CCDC39):c.364A>G (p.Ile122Val) rs371541452
NM_181426.2(CCDC39):c.367T>G (p.Phe123Val) rs2108429552
NM_181426.2(CCDC39):c.36G>A (p.Glu12=)
NM_181426.2(CCDC39):c.388G>T (p.Asp130Tyr)
NM_181426.2(CCDC39):c.389A>G (p.Asp130Gly)
NM_181426.2(CCDC39):c.395T>C (p.Leu132Ser)
NM_181426.2(CCDC39):c.402T>A (p.Cys134Ter) rs1560092440
NM_181426.2(CCDC39):c.420G>A (p.Gln140=)
NM_181426.2(CCDC39):c.425C>T (p.Ala142Val) rs1711721023
NM_181426.2(CCDC39):c.426A>G (p.Ala142=)
NM_181426.2(CCDC39):c.432G>A (p.Glu144=)
NM_181426.2(CCDC39):c.435C>T (p.Ala145=)
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.450A>G (p.Ser150=)
NM_181426.2(CCDC39):c.455A>C (p.His152Pro)
NM_181426.2(CCDC39):c.462T>C (p.Asp154=)
NM_181426.2(CCDC39):c.485dup (p.Tyr163fs)
NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter) rs1711717951
NM_181426.2(CCDC39):c.501T>A (p.Asp167Glu)
NM_181426.2(CCDC39):c.514A>G (p.Arg172Gly) rs757331133
NM_181426.2(CCDC39):c.516+11A>G
NM_181426.2(CCDC39):c.516+11A>T rs1436542350
NM_181426.2(CCDC39):c.516+12_516+14del
NM_181426.2(CCDC39):c.516+14A>C rs377363801
NM_181426.2(CCDC39):c.516+16T>A
NM_181426.2(CCDC39):c.516+18G>A
NM_181426.2(CCDC39):c.516+18G>T
NM_181426.2(CCDC39):c.516+1G>A
NM_181426.2(CCDC39):c.516+20A>T
NM_181426.2(CCDC39):c.516+9T>C rs2108429420
NM_181426.2(CCDC39):c.517-13A>G
NM_181426.2(CCDC39):c.517-14T>C
NM_181426.2(CCDC39):c.517-15A>G
NM_181426.2(CCDC39):c.517-17A>G
NM_181426.2(CCDC39):c.517-18T>C
NM_181426.2(CCDC39):c.517-7A>T
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)
NM_181426.2(CCDC39):c.539G>T (p.Arg180Ile)
NM_181426.2(CCDC39):c.541C>T (p.Leu181=)
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=)
NM_181426.2(CCDC39):c.570G>T (p.Lys190Asn)
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=)
NM_181426.2(CCDC39):c.610-16G>T
NM_181426.2(CCDC39):c.610-20C>T
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
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

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