ClinVar Miner

List of variants in gene CCDC78 studied for congenital myopathy

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 555
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HGVS dbSNP gnomAD frequency
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg) rs2071950 0.59279
NM_001378030.1(CCDC78):c.1302-53A>G rs12599130 0.54951
NM_001378030.1(CCDC78):c.766-11G>A rs4984921 0.47174
NM_001378030.1(CCDC78):c.180+19C>G rs12446058 0.21130
NM_001378030.1(CCDC78):c.180+11G>T rs12448312 0.19609
NM_001378030.1(CCDC78):c.180+12G>T rs12448311 0.19608
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) rs8055909 0.03578
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=) rs61998209 0.01878
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln) rs142136104 0.00853
NM_001378030.1(CCDC78):c.803C>T (p.Thr268Met) rs77707419 0.00503
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys) rs61998220 0.00468
NM_001378030.1(CCDC78):c.267+11G>A rs78103693 0.00338
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=) rs73489339 0.00274
NM_001378030.1(CCDC78):c.781G>A (p.Ala261Thr) rs186738044 0.00264
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys) rs148595483 0.00212
NM_001378030.1(CCDC78):c.953+10G>A rs79863898 0.00195
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_001378030.1(CCDC78):c.737G>A (p.Arg246Gln) rs147606575 0.00180
NM_001378030.1(CCDC78):c.1238G>A (p.Arg413Gln) rs148276717 0.00171
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp) rs145274257 0.00159
NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln) rs142170929 0.00154
NM_001378030.1(CCDC78):c.755G>A (p.Trp252Ter) rs142133229 0.00125
NM_001378030.1(CCDC78):c.1098C>T (p.Pro366=) rs140104512 0.00106
NM_001378030.1(CCDC78):c.1134-9C>T rs199505710 0.00088
NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=) rs146067716 0.00088
NM_001378030.1(CCDC78):c.308G>A (p.Arg103Gln) rs151206197 0.00087
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp) rs181469519 0.00068
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile) rs145112523 0.00066
NM_001378030.1(CCDC78):c.1302-8C>A rs201006875 0.00057
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His) rs150304459 0.00055
NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met) rs140761899 0.00052
NM_001378030.1(CCDC78):c.918G>C (p.Leu306=) rs139766874 0.00049
NM_001378030.1(CCDC78):c.1220G>A (p.Arg407Gln) rs141141442 0.00048
NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser) rs200747487 0.00048
NM_001378030.1(CCDC78):c.493-16C>T rs200531006 0.00044
NM_001378030.1(CCDC78):c.492C>T (p.Gly164=) rs144396385 0.00041
NM_001378030.1(CCDC78):c.200A>G (p.Asp67Gly) rs150363147 0.00037
NM_001378030.1(CCDC78):c.575G>A (p.Arg192Gln) rs144643237 0.00037
NM_001378030.1(CCDC78):c.1053+12G>A rs368223759 0.00029
NM_001378030.1(CCDC78):c.861C>T (p.Ser287=) rs375625161 0.00026
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His) rs200154277 0.00026
NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val) rs371760552 0.00022
NM_001378030.1(CCDC78):c.1053+20G>A rs200002179 0.00020
NM_001378030.1(CCDC78):c.927G>A (p.Arg309=) rs376047604 0.00019
NM_001378030.1(CCDC78):c.766-9C>T rs199893871 0.00017
NM_001378030.1(CCDC78):c.1054-3T>C rs371542042 0.00016
NM_001378030.1(CCDC78):c.268-3C>T rs371386354 0.00016
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu) rs145971446 0.00015
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) rs148705181 0.00015
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=) rs760280521 0.00014
NM_001378030.1(CCDC78):c.1189C>T (p.Arg397Cys) rs559942514 0.00013
NM_001378030.1(CCDC78):c.472C>T (p.Gln158Ter) rs200825023 0.00013
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr) rs144624081 0.00011
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg) rs147899031 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys) rs370998388 0.00010
NM_001378030.1(CCDC78):c.668G>A (p.Arg223His) rs373278585 0.00010
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln) rs771507948 0.00009
NM_001378030.1(CCDC78):c.47G>A (p.Arg16Gln) rs117949611 0.00009
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp) rs929692414 0.00008
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp) rs369081589 0.00008
NM_001378030.1(CCDC78):c.642G>A (p.Val214=) rs142353908 0.00008
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys) rs375016420 0.00007
NM_001378030.1(CCDC78):c.766-8G>A rs371640942 0.00007
NM_001378030.1(CCDC78):c.1143C>T (p.Asp381=) rs530313895 0.00006
NM_001378030.1(CCDC78):c.180+9G>A rs374903815 0.00006
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu) rs144640928 0.00006
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met) rs142129985 0.00006
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln) rs368147684 0.00006
NM_001378030.1(CCDC78):c.832C>T (p.Leu278=) rs201042133 0.00006
NM_001378030.1(CCDC78):c.856C>T (p.Arg286Cys) rs540243094 0.00006
NM_001378030.1(CCDC78):c.1276G>A (p.Glu426Lys) rs374749282 0.00005
NM_001378030.1(CCDC78):c.612C>T (p.Ala204=) rs765213341 0.00005
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala) rs749951287 0.00005
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn) rs143439721 0.00005
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile) rs752077571 0.00005
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser) rs754906673 0.00004
NM_001378030.1(CCDC78):c.1133+7G>A rs374450678 0.00004
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp) rs767496331 0.00004
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=) rs893572894 0.00004
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=) rs142180051 0.00004
NM_001378030.1(CCDC78):c.294G>A (p.Leu98=) rs140303460 0.00004
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln) rs201924732 0.00004
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His) rs762337009 0.00004
NM_001378030.1(CCDC78):c.567C>T (p.Thr189=) rs748680465 0.00004
NM_001378030.1(CCDC78):c.729C>T (p.Tyr243=) rs376412009 0.00004
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr) rs371030168 0.00004
NM_001378030.1(CCDC78):c.810C>A (p.Leu270=) rs372703744 0.00004
NM_001378030.1(CCDC78):c.812G>A (p.Arg271Gln) rs764422260 0.00004
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln) rs201634385 0.00004
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys) rs764179609 0.00004
NM_001378030.1(CCDC78):c.1009T>C (p.Leu337=) rs752141177 0.00003
NM_001378030.1(CCDC78):c.1056C>T (p.His352=) rs371958189 0.00003
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=) rs768794447 0.00003
NM_001378030.1(CCDC78):c.1237C>T (p.Arg413Trp) rs780967551 0.00003
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile) rs1045075829 0.00003
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn) rs371931071 0.00003
NM_001378030.1(CCDC78):c.267+10C>T rs199497862 0.00003
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu) rs749051279 0.00003
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser) rs756781117 0.00003
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp) rs144406163 0.00003
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys) rs777794522 0.00003
NM_001378030.1(CCDC78):c.666C>G (p.Leu222=) rs778705590 0.00003
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter) rs887921636 0.00003
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp) rs772096201 0.00003
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp) rs1418782154 0.00003
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His) rs768251031 0.00003
NM_001378030.1(CCDC78):c.1014C>T (p.Pro338=) rs764805299 0.00002
NM_001378030.1(CCDC78):c.1053+13A>G rs769940521 0.00002
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=) rs773310049 0.00002
NM_001378030.1(CCDC78):c.1133+16G>T rs778741526 0.00002
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile) rs775067488 0.00002
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=) rs773837439 0.00002
NM_001378030.1(CCDC78):c.141C>T (p.Val47=) rs765250833 0.00002
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val) rs1432121366 0.00002
NM_001378030.1(CCDC78):c.180+20G>A rs753155679 0.00002
NM_001378030.1(CCDC78):c.181-14C>T rs776154471 0.00002
NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp) rs201503907 0.00002
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys) rs893873268 0.00002
NM_001378030.1(CCDC78):c.303G>A (p.Glu101=) rs1391537464 0.00002
NM_001378030.1(CCDC78):c.348G>A (p.Glu116=) rs755948173 0.00002
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu) rs745392382 0.00002
NM_001378030.1(CCDC78):c.435+19A>C rs199988256 0.00002
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp) rs758399024 0.00002
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) rs754019798 0.00002
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln) rs763959604 0.00002
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg) rs759028646 0.00002
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile) rs757617074 0.00002
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn) rs370899425 0.00002
NM_001378030.1(CCDC78):c.765+9T>C rs765738306 0.00002
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn) rs1037631909 0.00002
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His) rs750889592 0.00002
NM_001378030.1(CCDC78):c.874del (p.Leu292fs) rs746756519 0.00002
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter) rs2040614414 0.00002
NM_001378030.1(CCDC78):c.1020C>T (p.Pro340=) rs1319236751 0.00001
NM_001378030.1(CCDC78):c.102G>C (p.Gly34=) rs558680404 0.00001
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr) rs369908634 0.00001
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg) rs371921917 0.00001
NM_001378030.1(CCDC78):c.1054-14A>G rs575159946 0.00001
NM_001378030.1(CCDC78):c.1054-9C>G rs781457535 0.00001
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg) rs199867890 0.00001
NM_001378030.1(CCDC78):c.1083C>T (p.Ser361=) rs763378541 0.00001
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs) rs765483630 0.00001
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter) rs1475409165 0.00001
NM_001378030.1(CCDC78):c.1133+13A>G rs747939934 0.00001
NM_001378030.1(CCDC78):c.1134-15C>G rs766085711 0.00001
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp) rs1296158476 0.00001
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln) rs376513788 0.00001
NM_001378030.1(CCDC78):c.1200+12G>A rs746266109 0.00001
NM_001378030.1(CCDC78):c.1201-11C>A rs894597785 0.00001
NM_001378030.1(CCDC78):c.1201-1G>C rs763586611 0.00001
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr) rs1180613590 0.00001
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=) rs1482540009 0.00001
NM_001378030.1(CCDC78):c.1301+10G>A rs758288338 0.00001
NM_001378030.1(CCDC78):c.1302-10C>T rs1233846202 0.00001
NM_001378030.1(CCDC78):c.1302-1G>C rs764699064 0.00001
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val) rs1064794620 0.00001
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys) rs1180264424 0.00001
NM_001378030.1(CCDC78):c.198C>T (p.Val66=) rs753929100 0.00001
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val) rs768740042 0.00001
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala) rs750616701 0.00001
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr) rs1477528084 0.00001
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys) rs549450998 0.00001
NM_001378030.1(CCDC78):c.240G>A (p.Glu80=) rs1366295901 0.00001
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val) rs558878970 0.00001
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val) rs748438652 0.00001
NM_001378030.1(CCDC78):c.267+3G>A rs749827376 0.00001
NM_001378030.1(CCDC78):c.268-19C>A rs1396117099 0.00001
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp) rs767068294 0.00001
NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly) rs769964986 0.00001
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter) rs776512977 0.00001
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His) rs1246634377 0.00001
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys) rs777956994 0.00001
NM_001378030.1(CCDC78):c.330C>T (p.Gly110=) rs1196046646 0.00001
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala) rs779855089 0.00001
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter) rs1014643433 0.00001
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser) rs2040942356 0.00001
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter) rs745710346 0.00001
NM_001378030.1(CCDC78):c.435+13A>G rs966308561 0.00001
NM_001378030.1(CCDC78):c.435+7A>G rs751070375 0.00001
NM_001378030.1(CCDC78):c.436-2A>G rs778608633 0.00001
NM_001378030.1(CCDC78):c.462C>T (p.Pro154=) rs199585619 0.00001
NM_001378030.1(CCDC78):c.492+6T>C rs1283039950 0.00001
NM_001378030.1(CCDC78):c.493-8C>T rs1455612703 0.00001
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met) rs1555486210 0.00001
NM_001378030.1(CCDC78):c.51G>A (p.Arg17=) rs949623191 0.00001
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln) rs560987339 0.00001
NM_001378030.1(CCDC78):c.552G>A (p.Val184=) rs528171965 0.00001
NM_001378030.1(CCDC78):c.560+11A>G rs745530216 0.00001
NM_001378030.1(CCDC78):c.561-9T>C rs1294551214 0.00001
NM_001378030.1(CCDC78):c.61-14C>T rs750092405 0.00001
NM_001378030.1(CCDC78):c.61-4C>A rs1227878128 0.00001
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser) rs375138705 0.00001
NM_001378030.1(CCDC78):c.640-11T>G rs375444284 0.00001
NM_001378030.1(CCDC78):c.640-13G>A rs775362271 0.00001
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser) rs1374522692 0.00001
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro) rs1352546137 0.00001
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly) rs749095737 0.00001
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr) rs1338935088 0.00001
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met) rs763349441 0.00001
NM_001378030.1(CCDC78):c.763_765+5del rs1406110108 0.00001
NM_001378030.1(CCDC78):c.765+19C>T rs760813011 0.00001
NM_001378030.1(CCDC78):c.765+7C>A rs1158312264 0.00001
NM_001378030.1(CCDC78):c.765+8C>G rs753039480 0.00001
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly) rs1374510953 0.00001
NM_001378030.1(CCDC78):c.771C>T (p.His257=) rs747763912 0.00001
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr) rs778696812 0.00001
NM_001378030.1(CCDC78):c.804G>A (p.Thr268=) rs767497873 0.00001
NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val) rs562625664 0.00001
NM_001378030.1(CCDC78):c.828G>A (p.Ala276=) rs746959349 0.00001
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp) rs747752625 0.00001
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val) rs749614530 0.00001
NM_001378030.1(CCDC78):c.882G>A (p.Arg294=) rs958395578 0.00001
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr) rs1395442564 0.00001
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu) rs1014754418 0.00001
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His) rs151049173 0.00001
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln) rs750273057 0.00001
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys) rs767319981 0.00001
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro) rs780197880 0.00001
NC_000016.10:g.(?_722760)_(726377_?)dup
NC_000016.9:g.(?_772770)_(776367_?)dup
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln)
NM_001378030.1(CCDC78):c.1005A>G (p.Glu335=)
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr) rs951170993
NM_001378030.1(CCDC78):c.1014C>A (p.Pro338=) rs764805299
NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met)
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu) rs759037918
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu) rs2040894714
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu) rs2040580658
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn)
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp)
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu) rs142170929
NM_001378030.1(CCDC78):c.1044G>A (p.Arg348=) rs1455517817
NM_001378030.1(CCDC78):c.1053+18C>G
NM_001378030.1(CCDC78):c.1053+18C>T
NM_001378030.1(CCDC78):c.1053+1G>A
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=)
NM_001378030.1(CCDC78):c.1054-15C>T
NM_001378030.1(CCDC78):c.1054-16C>A
NM_001378030.1(CCDC78):c.1054-19C>T
NM_001378030.1(CCDC78):c.1054-20C>G rs906009986
NM_001378030.1(CCDC78):c.1054-7T>A
NM_001378030.1(CCDC78):c.1065T>G (p.Pro355=)
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg)
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu) rs1567315670
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu)
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val) rs767325446
NM_001378030.1(CCDC78):c.1074G>A (p.Leu358=)
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val)
NM_001378030.1(CCDC78):c.1078T>C (p.Ser360Pro)
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser) rs2040893951
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro)
NM_001378030.1(CCDC78):c.1090A>G (p.Lys364Glu)
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser) rs1021626011
NM_001378030.1(CCDC78):c.1102G>A (p.Gly368Arg)
NM_001378030.1(CCDC78):c.1110C>T (p.Ser370=)
NM_001378030.1(CCDC78):c.1113G>C (p.Gln371His)
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1120A>G (p.Thr374Ala)
NM_001378030.1(CCDC78):c.1133+10C>T
NM_001378030.1(CCDC78):c.1133+14T>A
NM_001378030.1(CCDC78):c.1133+14T>C
NM_001378030.1(CCDC78):c.1133+1G>C
NM_001378030.1(CCDC78):c.1133+3G>C
NM_001378030.1(CCDC78):c.1133+5G>C rs751889492
NM_001378030.1(CCDC78):c.1134-12C>T
NM_001378030.1(CCDC78):c.1134-131del rs35843452
NM_001378030.1(CCDC78):c.1134-14C>T
NM_001378030.1(CCDC78):c.1134-160dup rs548208034
NM_001378030.1(CCDC78):c.1134-16T>G
NM_001378030.1(CCDC78):c.1134-19C>T rs1320283995
NM_001378030.1(CCDC78):c.1134-20C>T
NM_001378030.1(CCDC78):c.1134-7C>T rs2151539558
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr)
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe)
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro) rs376513788
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn)
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly)
NM_001378030.1(CCDC78):c.1182C>T (p.Asp394=)
NM_001378030.1(CCDC78):c.1184T>C (p.Phe395Ser)
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys)
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro)
NM_001378030.1(CCDC78):c.1200+10A>C rs1320389377
NM_001378030.1(CCDC78):c.1200+10_1200+15del rs2040380247
NM_001378030.1(CCDC78):c.1200+12G>C
NM_001378030.1(CCDC78):c.1200+14_1200+18del
NM_001378030.1(CCDC78):c.1200+18G>A rs2040379831
NM_001378030.1(CCDC78):c.1200+9C>A rs907003896
NM_001378030.1(CCDC78):c.1201-14C>T
NM_001378030.1(CCDC78):c.1201-15A>T
NM_001378030.1(CCDC78):c.1201-7A>G
NM_001378030.1(CCDC78):c.1207C>T (p.Leu403=) rs941301878
NM_001378030.1(CCDC78):c.1213C>T (p.Arg405Trp) rs563037365
NM_001378030.1(CCDC78):c.1219C>T (p.Arg407Trp) rs773923207
NM_001378030.1(CCDC78):c.1235T>G (p.Val412Gly)
NM_001378030.1(CCDC78):c.1237C>G (p.Arg413Gly) rs780967551
NM_001378030.1(CCDC78):c.1252G>A (p.Glu418Lys) rs2151537413
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala) rs761180576
NM_001378030.1(CCDC78):c.1278_1286del (p.Glu426_Val428del)
NM_001378030.1(CCDC78):c.1279T>C (p.Tyr427His) rs558615304
NM_001378030.1(CCDC78):c.1282G>A (p.Val428Met)
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=) rs1403494570
NM_001378030.1(CCDC78):c.1288C>T (p.Gln430Ter)
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg)
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)
NM_001378030.1(CCDC78):c.12A>G (p.Ala4=)
NM_001378030.1(CCDC78):c.1301+14G>A
NM_001378030.1(CCDC78):c.1301+2T>C
NM_001378030.1(CCDC78):c.1302-11C>T
NM_001378030.1(CCDC78):c.1302-19G>A
NM_001378030.1(CCDC78):c.1302-19G>T rs374237828
NM_001378030.1(CCDC78):c.1302-2_1302-1insC
NM_001378030.1(CCDC78):c.1306A>G (p.Lys436Glu)
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg)
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=)
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)
NM_001378030.1(CCDC78):c.1311C>T (p.His437=) rs775569629
NM_001378030.1(CCDC78):c.1312G>A (p.Glu438Lys)
NM_001378030.1(CCDC78):c.1319T>C (p.Leu440Pro)
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile) rs892740041
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro)
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val) rs2151579428
NM_001378030.1(CCDC78):c.156G>A (p.Ala52=)
NM_001378030.1(CCDC78):c.159C>T (p.Leu53=)
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs) rs1389255956
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu)
NM_001378030.1(CCDC78):c.180+10G>C
NM_001378030.1(CCDC78):c.180+11_180+12delinsTT rs373524109
NM_001378030.1(CCDC78):c.180+14C>A
NM_001378030.1(CCDC78):c.180+14C>T rs747340016
NM_001378030.1(CCDC78):c.180+19C>T rs12446058
NM_001378030.1(CCDC78):c.180+3G>T rs1483977509
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs) rs2040863479
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly)
NM_001378030.1(CCDC78):c.198C>G (p.Val66=)
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn) rs374105211
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile)
NM_001378030.1(CCDC78):c.219C>T (p.His73=) rs2151572538
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr) rs1248260858
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro)
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys)
NM_001378030.1(CCDC78):c.231G>A (p.Glu77=)
NM_001378030.1(CCDC78):c.249C>A (p.Ile83=)
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu) rs766553371
NM_001378030.1(CCDC78):c.252C>T (p.Phe84=) rs766553371
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter)
NM_001378030.1(CCDC78):c.258G>A (p.Leu86=) rs1190142185
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu)
NM_001378030.1(CCDC78):c.261G>A (p.Lys87=)
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys)
NM_001378030.1(CCDC78):c.267+1G>A
NM_001378030.1(CCDC78):c.267+1G>C
NM_001378030.1(CCDC78):c.267+20A>C
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=) rs1246932109
NM_001378030.1(CCDC78):c.268-19C>T rs1396117099
NM_001378030.1(CCDC78):c.268-2_272del
NM_001378030.1(CCDC78):c.268-7C>T
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu) rs1432188387
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln) rs766279961
NM_001378030.1(CCDC78):c.279G>A (p.Leu93=)
NM_001378030.1(CCDC78):c.282G>A (p.Glu94=)
NM_001378030.1(CCDC78):c.283A>G (p.Ser95Gly)
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg)
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln)
NM_001378030.1(CCDC78):c.288G>A (p.Arg96=)
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu)
NM_001378030.1(CCDC78):c.297G>A (p.Glu99=) rs200859995
NM_001378030.1(CCDC78):c.300G>A (p.Leu100=)
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter)
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter) rs1042253618
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser)
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp)
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val) rs369153172
NM_001378030.1(CCDC78):c.339C>T (p.Val113=)
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg) rs749051279
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His) rs750379614
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg) rs750379614
NM_001378030.1(CCDC78):c.369G>A (p.Arg123=)
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu)
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val)
NM_001378030.1(CCDC78):c.379C>G (p.Gln127Glu)
NM_001378030.1(CCDC78):c.384G>A (p.Glu128=)
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile)
NM_001378030.1(CCDC78):c.400del (p.Gln134fs) rs758119082
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=)
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser)
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe) rs374382609
NM_001378030.1(CCDC78):c.426_427del (p.His142fs)
NM_001378030.1(CCDC78):c.42C>G (p.Pro14=) rs368628654
NM_001378030.1(CCDC78):c.42C>T (p.Pro14=) rs368628654
NM_001378030.1(CCDC78):c.432C>T (p.Phe144=)
NM_001378030.1(CCDC78):c.435+13AT[3] rs2151566358
NM_001378030.1(CCDC78):c.435+17G>A rs752406944
NM_001378030.1(CCDC78):c.435+17G>C
NM_001378030.1(CCDC78):c.435+8T>C
NM_001378030.1(CCDC78):c.436-11C>T
NM_001378030.1(CCDC78):c.436-12C>T
NM_001378030.1(CCDC78):c.436-15C>G
NM_001378030.1(CCDC78):c.436-7C>G rs1567323012
NM_001378030.1(CCDC78):c.436-8C>T
NM_001378030.1(CCDC78):c.438G>A (p.Val146=)
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter)
NM_001378030.1(CCDC78):c.441G>A (p.Gln147=)
NM_001378030.1(CCDC78):c.452C>T (p.Thr151Ile)
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys) rs369344548
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser) rs2151564305
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly) rs746792512
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp) rs746792512
NM_001378030.1(CCDC78):c.474G>A (p.Gln158=) rs1473631191
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)
NM_001378030.1(CCDC78):c.477C>T (p.His159=)
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro) rs117949611
NM_001378030.1(CCDC78):c.488del (p.Ser163fs)
NM_001378030.1(CCDC78):c.489C>T (p.Ser163=)
NM_001378030.1(CCDC78):c.492+10C>T rs2151563812
NM_001378030.1(CCDC78):c.492+13C>T
NM_001378030.1(CCDC78):c.492+17C>T
NM_001378030.1(CCDC78):c.492+20G>A
NM_001378030.1(CCDC78):c.493-13G>A
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=) rs1361254201
NM_001378030.1(CCDC78):c.495G>A (p.Leu165=) rs2151562636
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg) rs2040740740
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly)
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln) rs777794522
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs) rs1466789176
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg) rs1555486210
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) rs1046402338
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro)
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu) rs1046402338
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val)
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val)
NM_001378030.1(CCDC78):c.51G>T (p.Arg17=) rs949623191
NM_001378030.1(CCDC78):c.523C>G (p.His175Asp)
NM_001378030.1(CCDC78):c.535C>A (p.Arg179=)
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val) rs1000549010
NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro)
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg) rs2151561882
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter)
NM_001378030.1(CCDC78):c.555G>A (p.Thr185=)
NM_001378030.1(CCDC78):c.558T>C (p.Arg186=)
NM_001378030.1(CCDC78):c.560+17C>T
NM_001378030.1(CCDC78):c.560_560+3del
NM_001378030.1(CCDC78):c.561-10G>A
NM_001378030.1(CCDC78):c.561-15C>T
NM_001378030.1(CCDC78):c.561-19C>G
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del) rs1035417733
NM_001378030.1(CCDC78):c.580C>T (p.Leu194=) rs2151560388
NM_001378030.1(CCDC78):c.585G>A (p.Gln195=) rs1192759468
NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly)
NM_001378030.1(CCDC78):c.592C>T (p.Arg198Ter)
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys) rs1031306587
NM_001378030.1(CCDC78):c.60+20C>G
NM_001378030.1(CCDC78):c.60+2T>C rs1289274795
NM_001378030.1(CCDC78):c.60+3G>A
NM_001378030.1(CCDC78):c.604A>G (p.Arg202Gly)
NM_001378030.1(CCDC78):c.61-13G>A
NM_001378030.1(CCDC78):c.61-13G>T
NM_001378030.1(CCDC78):c.61-16G>A
NM_001378030.1(CCDC78):c.61-2A>G
NM_001378030.1(CCDC78):c.61-6C>A
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp) rs2040706093
NM_001378030.1(CCDC78):c.615G>A (p.Gly205=)
NM_001378030.1(CCDC78):c.615G>T (p.Gly205=) rs2040704923
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter)
NM_001378030.1(CCDC78):c.619C>T (p.Arg207Ter)
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro)
NM_001378030.1(CCDC78):c.639+13C>T rs1312612578
NM_001378030.1(CCDC78):c.639+17_639+20del rs746844399
NM_001378030.1(CCDC78):c.639+4A>G
NM_001378030.1(CCDC78):c.640-17G>A rs1020697264
NM_001378030.1(CCDC78):c.640-5C>T rs1814238789
NM_001378030.1(CCDC78):c.645G>A (p.Leu215=)
NM_001378030.1(CCDC78):c.648C>T (p.Cys216=)
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys)
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu)
NM_001378030.1(CCDC78):c.669T>C (p.Arg223=)
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg)
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser)
NM_001378030.1(CCDC78):c.680C>T (p.Ala227Val)
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly) rs527479144
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp)
NM_001378030.1(CCDC78):c.692G>A (p.Arg231Gln) rs147504073
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu) rs147504073
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3]) rs1392358219
NM_001378030.1(CCDC78):c.717G>A (p.Leu239=)
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln)
NM_001378030.1(CCDC78):c.726G>A (p.Glu242=) rs1012692311
NM_001378030.1(CCDC78):c.732C>T (p.Val244=)
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp) rs749095737
NM_001378030.1(CCDC78):c.73G>A (p.Ala25Thr)
NM_001378030.1(CCDC78):c.741G>A (p.Leu247=) rs1211222717
NM_001378030.1(CCDC78):c.750C>T (p.Cys250=)
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp)
NM_001378030.1(CCDC78):c.754_755inv (p.Trp252Gln)
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg) rs1438721597
NM_001378030.1(CCDC78):c.765+10G>A
NM_001378030.1(CCDC78):c.765+11C>G
NM_001378030.1(CCDC78):c.765+13G>A
NM_001378030.1(CCDC78):c.765+17C>T
NM_001378030.1(CCDC78):c.765+7C>T
NM_001378030.1(CCDC78):c.766-19C>A
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr) rs1160240030
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln) rs747763912
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser)
NM_001378030.1(CCDC78):c.780T>C (p.Gly260=) rs1596618345
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly) rs1328091861
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val)
NM_001378030.1(CCDC78):c.798C>G (p.Ala266=)
NM_001378030.1(CCDC78):c.801C>T (p.Thr267=) rs1596618143
NM_001378030.1(CCDC78):c.805del (p.Ala269fs)
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly) rs2040895994
NM_001378030.1(CCDC78):c.831T>G (p.Thr277=)
NM_001378030.1(CCDC78):c.837G>A (p.Glu279=)
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn)
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly) rs747752625
NM_001378030.1(CCDC78):c.846G>C (p.Arg282=) rs2151554557
NM_001378030.1(CCDC78):c.852G>A (p.Ala284=)
NM_001378030.1(CCDC78):c.852G>C (p.Ala284=) rs561702421
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn)
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr) rs1688583528
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser)
NM_001378030.1(CCDC78):c.886G>T (p.Ala296Ser)
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr) rs770130604
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter) rs1203607617
NM_001378030.1(CCDC78):c.898_900del (p.His300del) rs771582682
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg) rs2040618422
NM_001378030.1(CCDC78):c.906G>A (p.Arg302=)
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr)
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp)
NM_001378030.1(CCDC78):c.924C>A (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg) rs2040614811
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val) rs2151553309
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr)
NM_001378030.1(CCDC78):c.953+15del rs751454157
NM_001378030.1(CCDC78):c.953+19G>A
NM_001378030.1(CCDC78):c.953+1G>A
NM_001378030.1(CCDC78):c.953+20del
NM_001378030.1(CCDC78):c.953+3G>A rs2040612115
NM_001378030.1(CCDC78):c.953+4G>A
NM_001378030.1(CCDC78):c.953+6C>T
NM_001378030.1(CCDC78):c.954-5G>A
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=) rs2040592459
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys) rs2040592043
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser)
NM_001378030.1(CCDC78):c.959C>T (p.Pro320Leu)
NM_001378030.1(CCDC78):c.969C>A (p.Pro323=) rs2151551775
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr)
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly)
NM_001378030.1(CCDC78):c.994T>C (p.Leu332=)
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu) rs1450643801
NM_001378030.1(CCDC78):c.9C>T (p.His3=) rs1355024482

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