ClinVar Miner

List of variants in gene CCDC40 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 418
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.2832+466_2832+467del rs570440845 0.00603
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007 0.00481
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr) rs141185078 0.00327
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00301
NM_017950.4(CCDC40):c.2236-15G>A rs148674510 0.00295
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=) rs145013523 0.00203
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_017950.4(CCDC40):c.*383G>A rs114892048 0.00193
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_017950.4(CCDC40):c.2620-92C>T rs569842522 0.00145
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.1562+2018C>T rs562415439 0.00092
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val) rs201126001 0.00081
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.*220C>T rs538221665 0.00066
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355 0.00054
NM_017950.4(CCDC40):c.*202T>C rs539904864 0.00048
NM_017950.4(CCDC40):c.552G>A (p.Leu184=) rs141588728 0.00044
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) rs563467821 0.00039
NM_017950.4(CCDC40):c.*17C>T rs202179507 0.00038
NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile) rs377222257 0.00038
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947 0.00034
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_017950.4(CCDC40):c.32C>G (p.Ser11Cys) rs111822347 0.00034
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201 0.00031
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr) rs199564182 0.00030
NM_017950.4(CCDC40):c.1445G>A (p.Cys482Tyr) rs367601192 0.00030
NM_017950.4(CCDC40):c.1109G>A (p.Arg370His) rs77027689 0.00029
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501 0.00025
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn) rs370948871 0.00024
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063 0.00024
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579 0.00022
NM_017950.4(CCDC40):c.1379T>A (p.Phe460Tyr) rs201576715 0.00021
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089 0.00021
NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn) rs375800869 0.00020
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) rs200902434 0.00019
NM_017950.4(CCDC40):c.1025A>G (p.Gln342Arg) rs201057426 0.00018
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678 0.00018
NM_017950.4(CCDC40):c.1067C>T (p.Ser356Leu) rs200448007 0.00016
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665 0.00016
NM_017950.4(CCDC40):c.1800C>G (p.Asp600Glu) rs965506812 0.00016
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) rs200551690 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842 0.00016
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn) rs201815496 0.00016
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys) rs758247990 0.00016
NM_017950.4(CCDC40):c.38C>T (p.Pro13Leu) rs541172966 0.00015
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser) rs201064110 0.00014
NM_017950.4(CCDC40):c.2159C>T (p.Thr720Met) rs201407989 0.00014
NM_017950.4(CCDC40):c.772A>G (p.Met258Val) rs200614903 0.00014
NM_017950.4(CCDC40):c.*18G>A rs746718107 0.00013
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His) rs572440259 0.00013
NM_017950.4(CCDC40):c.*199G>A rs886053536 0.00012
NM_017950.4(CCDC40):c.*706T>C rs373188258 0.00012
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597 0.00012
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp) rs201858385 0.00012
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr) rs202123909 0.00011
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=) rs760734578 0.00011
NM_017950.4(CCDC40):c.3021+13G>A rs762011731 0.00011
NM_017950.4(CCDC40):c.1843C>T (p.Arg615Cys) rs763700391 0.00010
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) rs199850214 0.00010
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys) rs202220442 0.00010
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) rs201293301 0.00010
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289 0.00010
NM_017950.4(CCDC40):c.661G>A (p.Val221Ile) rs371890970 0.00010
NM_017950.4(CCDC40):c.966C>T (p.Ala322=) rs369089505 0.00010
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr) rs371071557 0.00009
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099 0.00009
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn) rs758243927 0.00008
NM_017950.4(CCDC40):c.1806+15G>A rs767093580 0.00008
NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly) rs377599647 0.00008
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln) rs369512832 0.00008
NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln) rs763892619 0.00008
NM_017950.4(CCDC40):c.1210A>G (p.Met404Val) rs774090634 0.00007
NM_017950.4(CCDC40):c.2104G>A (p.Val702Met) rs748948064 0.00007
NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr) rs780626544 0.00007
NM_017950.4(CCDC40):c.660C>T (p.Phe220=) rs200678214 0.00007
NM_017950.4(CCDC40):c.1127C>G (p.Thr376Ser) rs372392201 0.00006
NM_017950.4(CCDC40):c.113A>G (p.Asp38Gly) rs1060501718 0.00006
NM_017950.4(CCDC40):c.1292G>A (p.Arg431Gln) rs766914160 0.00006
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) rs376363442 0.00006
NM_017950.4(CCDC40):c.1990-6A>G rs1055042616 0.00006
NM_017950.4(CCDC40):c.2068G>A (p.Ala690Thr) rs201907038 0.00006
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His) rs373717036 0.00006
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser) rs936824026 0.00005
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423 0.00005
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=) rs573028412 0.00005
NM_017950.4(CCDC40):c.3250G>A (p.Val1084Met) rs546314844 0.00005
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His) rs371604414 0.00005
NM_017950.4(CCDC40):c.*342G>A rs886053537 0.00004
NM_017950.4(CCDC40):c.2377G>A (p.Glu793Lys) rs367812804 0.00004
NM_017950.4(CCDC40):c.23C>G (p.Ala8Gly) rs751298635 0.00004
NM_017950.4(CCDC40):c.2876G>A (p.Arg959His) rs369114517 0.00004
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys) rs761769193 0.00004
NM_017950.4(CCDC40):c.3180+6C>G rs753716586 0.00004
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln) rs771414681 0.00004
NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile) rs755159452 0.00004
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu) rs369066468 0.00004
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln) rs572093892 0.00004
NM_017950.4(CCDC40):c.637G>A (p.Glu213Lys) rs372360189 0.00004
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742 0.00004
NM_017950.4(CCDC40):c.855+4A>G rs138001923 0.00004
NM_017950.4(CCDC40):c.910G>A (p.Glu304Lys) rs757404529 0.00004
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_017950.4(CCDC40):c.*415G>A rs886053539 0.00003
NM_017950.4(CCDC40):c.1440+15C>T rs779133902 0.00003
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His) rs757879326 0.00003
NM_017950.4(CCDC40):c.2038G>C (p.Asp680His) rs765976507 0.00003
NM_017950.4(CCDC40):c.2800C>T (p.Arg934Trp) rs775749296 0.00003
NM_017950.4(CCDC40):c.2936G>A (p.Arg979His) rs760027732 0.00003
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met) rs201104817 0.00003
NM_017950.4(CCDC40):c.3016C>T (p.Arg1006Cys) rs553354727 0.00003
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu) rs769458274 0.00003
NM_017950.4(CCDC40):c.3262C>T (p.Arg1088Cys) rs766993149 0.00003
NM_017950.4(CCDC40):c.3337C>T (p.Arg1113Cys) rs201250105 0.00003
NM_017950.4(CCDC40):c.3409G>A (p.Glu1137Lys) rs774630271 0.00003
NM_017950.4(CCDC40):c.461G>A (p.Arg154Lys) rs751661394 0.00003
NM_017950.4(CCDC40):c.*663C>T rs886053540 0.00002
NM_017950.4(CCDC40):c.1200T>A (p.His400Gln) rs773046353 0.00002
NM_017950.4(CCDC40):c.1280C>T (p.Thr427Met) rs370720427 0.00002
NM_017950.4(CCDC40):c.1409A>G (p.Asp470Gly) rs754833822 0.00002
NM_017950.4(CCDC40):c.1415G>A (p.Arg472Gln) rs780647441 0.00002
NM_017950.4(CCDC40):c.1564G>A (p.Gly522Arg) rs764252103 0.00002
NM_017950.4(CCDC40):c.1814T>C (p.Met605Thr) rs767290092 0.00002
NM_017950.4(CCDC40):c.2116A>G (p.Asn706Asp) rs770751519 0.00002
NM_017950.4(CCDC40):c.2192A>G (p.Asn731Ser) rs376612893 0.00002
NM_017950.4(CCDC40):c.2309C>T (p.Ala770Val) rs749795585 0.00002
NM_017950.4(CCDC40):c.2551C>T (p.Arg851Trp) rs774273644 0.00002
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu) rs367596393 0.00002
NM_017950.4(CCDC40):c.2652C>G (p.Asp884Glu) rs368398257 0.00002
NM_017950.4(CCDC40):c.2962C>T (p.Arg988Cys) rs757374609 0.00002
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=) rs199575834 0.00002
NM_017950.4(CCDC40):c.553-3T>C rs779799024 0.00002
NM_017950.4(CCDC40):c.592A>G (p.Met198Val) rs774843139 0.00002
NM_017950.4(CCDC40):c.655G>A (p.Glu219Lys) rs1277342777 0.00002
NM_017950.4(CCDC40):c.929T>A (p.Leu310His) rs1209777694 0.00002
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln) rs114740534 0.00002
NM_017950.4(CCDC40):c.*517G>C rs967873995 0.00001
NM_017950.4(CCDC40):c.1030C>G (p.Leu344Val) rs374337192 0.00001
NM_017950.4(CCDC40):c.1075C>T (p.Arg359Cys) rs370338926 0.00001
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys) rs758068198 0.00001
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 0.00001
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543 0.00001
NM_017950.4(CCDC40):c.1317+42G>A rs756283987 0.00001
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) rs2289526 0.00001
NM_017950.4(CCDC40):c.1525C>T (p.Arg509Cys) rs749901313 0.00001
NM_017950.4(CCDC40):c.1528G>A (p.Asp510Asn) rs1449822865 0.00001
NM_017950.4(CCDC40):c.1590C>T (p.Thr530=) rs750134735 0.00001
NM_017950.4(CCDC40):c.1603G>A (p.Glu535Lys) rs201164121 0.00001
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys) rs1414723148 0.00001
NM_017950.4(CCDC40):c.1670G>A (p.Arg557Gln) rs200236937 0.00001
NM_017950.4(CCDC40):c.1687A>G (p.Thr563Ala) rs780848862 0.00001
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn) rs202093340 0.00001
NM_017950.4(CCDC40):c.1726C>G (p.Gln576Glu) rs864622323 0.00001
NM_017950.4(CCDC40):c.1804C>A (p.Leu602Met) rs1213836538 0.00001
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys) rs948532763 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 0.00001
NM_017950.4(CCDC40):c.200G>A (p.Gly67Glu) rs794727512 0.00001
NM_017950.4(CCDC40):c.2014G>A (p.Gly672Ser) rs769532664 0.00001
NM_017950.4(CCDC40):c.2051C>T (p.Thr684Ile) rs200542971 0.00001
NM_017950.4(CCDC40):c.2070A>C (p.Ala690=) rs758677009 0.00001
NM_017950.4(CCDC40):c.2152C>T (p.Arg718Trp) rs368063104 0.00001
NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln) rs774558527 0.00001
NM_017950.4(CCDC40):c.2456T>C (p.Ile819Thr) rs1316337946 0.00001
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val) rs376911979 0.00001
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579 0.00001
NM_017950.4(CCDC40):c.2724G>A (p.Met908Ile) rs1211135006 0.00001
NM_017950.4(CCDC40):c.2731G>A (p.Glu911Lys) rs993641369 0.00001
NM_017950.4(CCDC40):c.2734A>G (p.Lys912Glu) rs756183009 0.00001
NM_017950.4(CCDC40):c.2762G>A (p.Arg921His) rs745319642 0.00001
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser) rs564504598 0.00001
NM_017950.4(CCDC40):c.2823C>G (p.His941Gln) rs751091185 0.00001
NM_017950.4(CCDC40):c.2832+4A>T rs756602466 0.00001
NM_017950.4(CCDC40):c.2899C>T (p.Arg967Cys) rs1483239449 0.00001
NM_017950.4(CCDC40):c.29+5G>A rs934195206 0.00001
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile) rs775788498 0.00001
NM_017950.4(CCDC40):c.3142G>A (p.Glu1048Lys) rs997113449 0.00001
NM_017950.4(CCDC40):c.3148G>A (p.Asp1050Asn) rs111550470 0.00001
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val) rs369522039 0.00001
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met) rs374932269 0.00001
NM_017950.4(CCDC40):c.3244C>T (p.Arg1082Cys) rs1055443134 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.3290G>A (p.Arg1097His) rs777500902 0.00001
NM_017950.4(CCDC40):c.3322G>A (p.Ala1108Thr) rs763389968 0.00001
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro) rs778612110 0.00001
NM_017950.4(CCDC40):c.388G>A (p.Asp130Asn) rs758879011 0.00001
NM_017950.4(CCDC40):c.608G>A (p.Arg203His) rs764262876 0.00001
NM_017950.4(CCDC40):c.775G>A (p.Ala259Thr) rs1301593481 0.00001
NM_017950.4(CCDC40):c.902G>A (p.Arg301Gln) rs191632512 0.00001
NM_017950.4(CCDC40):c.956A>G (p.Gln319Arg) rs1428646439 0.00001
NC_000017.10:g.(?_78071024)_(78073574_?)dup
NC_000017.10:g.(?_78071024)_(78073594_?)dup
NC_000017.11:g.(?_80085983)_(80095471_?)dup
NM_017950.4(CCDC40):c.*190A>G rs886053535
NM_017950.4(CCDC40):c.*201G>A rs1371835117
NM_017950.4(CCDC40):c.*347C>T rs886053538
NM_017950.4(CCDC40):c.*632G>A rs369325014
NM_017950.4(CCDC40):c.*681T>C rs2038901677
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg)
NM_017950.4(CCDC40):c.1048G>A (p.Asp350Asn)
NM_017950.4(CCDC40):c.1051C>G (p.Arg351Gly)
NM_017950.4(CCDC40):c.1052G>T (p.Arg351Leu)
NM_017950.4(CCDC40):c.1054C>T (p.His352Tyr) rs763452738
NM_017950.4(CCDC40):c.1085A>G (p.Lys362Arg) rs2143617296
NM_017950.4(CCDC40):c.1085A>T (p.Lys362Met)
NM_017950.4(CCDC40):c.1108C>T (p.Arg370Cys)
NM_017950.4(CCDC40):c.1111G>A (p.Ala371Thr)
NM_017950.4(CCDC40):c.1114C>T (p.Leu372Phe)
NM_017950.4(CCDC40):c.1136C>A (p.Ala379Asp) rs976460197
NM_017950.4(CCDC40):c.1142A>G (p.Asn381Ser) rs1290134661
NM_017950.4(CCDC40):c.1146G>C (p.Glu382Asp)
NM_017950.4(CCDC40):c.1153A>C (p.Lys385Gln)
NM_017950.4(CCDC40):c.1160-3C>T rs2143648368
NM_017950.4(CCDC40):c.1163C>A (p.Ala388Glu) rs199948075
NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu) rs776947186
NM_017950.4(CCDC40):c.1212_1220del (p.Met404_Asn406del) rs775672044
NM_017950.4(CCDC40):c.1222G>A (p.Asp408Asn)
NM_017950.4(CCDC40):c.1232T>C (p.Met411Thr)
NM_017950.4(CCDC40):c.1249G>A (p.Val417Met) rs535461092
NM_017950.4(CCDC40):c.1258C>G (p.Gln420Glu)
NM_017950.4(CCDC40):c.1259A>G (p.Gln420Arg) rs1060501720
NM_017950.4(CCDC40):c.1270A>G (p.Lys424Glu)
NM_017950.4(CCDC40):c.1280C>A (p.Thr427Lys)
NM_017950.4(CCDC40):c.1286G>C (p.Arg429Thr)
NM_017950.4(CCDC40):c.1302C>G (p.Ile434Met)
NM_017950.4(CCDC40):c.1345C>G (p.Arg449Gly) rs387907093
NM_017950.4(CCDC40):c.1354C>A (p.Gln452Lys)
NM_017950.4(CCDC40):c.137C>A (p.Ala46Asp)
NM_017950.4(CCDC40):c.1390T>A (p.Tyr464Asn)
NM_017950.4(CCDC40):c.13G>A (p.Gly5Ser)
NM_017950.4(CCDC40):c.1441-10T>C
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg) rs200154414
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys) rs200858130
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)
NM_017950.4(CCDC40):c.1486A>T (p.Met496Leu)
NM_017950.4(CCDC40):c.1488G>A (p.Met496Ile) rs774462299
NM_017950.4(CCDC40):c.1495T>C (p.Trp499Arg)
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu) rs368929374
NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln) rs59978698
NM_017950.4(CCDC40):c.1537C>T (p.His513Tyr) rs2038023446
NM_017950.4(CCDC40):c.1544C>T (p.Ala515Val) rs774455448
NM_017950.4(CCDC40):c.1561A>G (p.Arg521Gly) rs2038024808
NM_017950.4(CCDC40):c.1565G>A (p.Gly522Glu) rs947035837
NM_017950.4(CCDC40):c.1575T>G (p.His525Gln)
NM_017950.4(CCDC40):c.1607C>G (p.Ala536Gly)
NM_017950.4(CCDC40):c.160G>A (p.Glu54Lys)
NM_017950.4(CCDC40):c.1618T>C (p.Ser540Pro) rs1598533116
NM_017950.4(CCDC40):c.1625T>A (p.Met542Lys)
NM_017950.4(CCDC40):c.1702C>T (p.Leu568Phe)
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg) rs199786478
NM_017950.4(CCDC40):c.1715G>C (p.Cys572Ser)
NM_017950.4(CCDC40):c.1717C>G (p.Leu573Val)
NM_017950.4(CCDC40):c.175C>G (p.Gln59Glu)
NM_017950.4(CCDC40):c.1771C>G (p.Gln591Glu)
NM_017950.4(CCDC40):c.1772A>G (p.Gln591Arg) rs1568706447
NM_017950.4(CCDC40):c.1780G>C (p.Glu594Gln) rs1314509837
NM_017950.4(CCDC40):c.1797G>C (p.Gln599His)
NM_017950.4(CCDC40):c.1806+5G>A
NM_017950.4(CCDC40):c.1859G>A (p.Gly620Asp)
NM_017950.4(CCDC40):c.1861G>A (p.Glu621Lys)
NM_017950.4(CCDC40):c.1873A>G (p.Arg625Gly) rs2038460577
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His) rs2038461062
NM_017950.4(CCDC40):c.1896C>T (p.Ile632=) rs886053534
NM_017950.4(CCDC40):c.1924_1926del (p.Ser642del) rs750295453
NM_017950.4(CCDC40):c.1945T>C (p.Phe649Leu) rs2038463011
NM_017950.4(CCDC40):c.1949A>C (p.Asn650Thr) rs201064110
NM_017950.4(CCDC40):c.1974G>A (p.Lys658=) rs777997435
NM_017950.4(CCDC40):c.1989+5G>A
NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp)
NM_017950.4(CCDC40):c.19G>A (p.Ala7Thr)
NM_017950.4(CCDC40):c.2053A>G (p.Ser685Gly)
NM_017950.4(CCDC40):c.2071C>T (p.His691Tyr)
NM_017950.4(CCDC40):c.2104G>T (p.Val702Leu) rs748948064
NM_017950.4(CCDC40):c.2117A>G (p.Asn706Ser) rs2143744575
NM_017950.4(CCDC40):c.2121G>C (p.Glu707Asp) rs981844099
NM_017950.4(CCDC40):c.2126T>C (p.Ile709Thr) rs759104776
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382
NM_017950.4(CCDC40):c.2170G>A (p.Glu724Lys)
NM_017950.4(CCDC40):c.2185C>T (p.Leu729Phe)
NM_017950.4(CCDC40):c.2186T>A (p.Leu729His)
NM_017950.4(CCDC40):c.2191A>G (p.Asn731Asp)
NM_017950.4(CCDC40):c.2224T>C (p.Ser742Pro)
NM_017950.4(CCDC40):c.2235G>A (p.Gly745=)
NM_017950.4(CCDC40):c.2239G>A (p.Glu747Lys)
NM_017950.4(CCDC40):c.2260C>T (p.Leu754Phe)
NM_017950.4(CCDC40):c.2299G>A (p.Asp767Asn)
NM_017950.4(CCDC40):c.229G>A (p.Val77Met)
NM_017950.4(CCDC40):c.232G>A (p.Glu78Lys) rs1568667170
NM_017950.4(CCDC40):c.2336G>T (p.Arg779Leu) rs183809462
NM_017950.4(CCDC40):c.2383C>G (p.Leu795Val)
NM_017950.4(CCDC40):c.2395G>A (p.Asp799Asn) rs757730799
NM_017950.4(CCDC40):c.239A>T (p.Glu80Val)
NM_017950.4(CCDC40):c.2488G>A (p.Glu830Lys)
NM_017950.4(CCDC40):c.2499G>C (p.Met833Ile)
NM_017950.4(CCDC40):c.2507T>C (p.Leu836Pro)
NM_017950.4(CCDC40):c.2524A>C (p.Lys842Gln) rs2038615740
NM_017950.4(CCDC40):c.2539A>T (p.Met847Leu) rs376872623
NM_017950.4(CCDC40):c.2552G>A (p.Arg851Gln) rs745599843
NM_017950.4(CCDC40):c.2566G>C (p.Glu856Gln) rs1000468581
NM_017950.4(CCDC40):c.2615T>C (p.Leu872Pro)
NM_017950.4(CCDC40):c.2619+5G>A
NM_017950.4(CCDC40):c.2627A>G (p.Glu876Gly)
NM_017950.4(CCDC40):c.2638A>G (p.Ile880Val)
NM_017950.4(CCDC40):c.2671G>A (p.Glu891Lys)
NM_017950.4(CCDC40):c.2693A>G (p.Asn898Ser)
NM_017950.4(CCDC40):c.2711+11G>T rs1434924240
NM_017950.4(CCDC40):c.2721T>G (p.Ile907Met) rs2038663366
NM_017950.4(CCDC40):c.274G>A (p.Glu92Lys)
NM_017950.4(CCDC40):c.2761C>T (p.Arg921Cys)
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)
NM_017950.4(CCDC40):c.2779G>A (p.Glu927Lys)
NM_017950.4(CCDC40):c.2786G>C (p.Gly929Ala)
NM_017950.4(CCDC40):c.2792C>T (p.Thr931Met) rs202141933
NM_017950.4(CCDC40):c.2801G>A (p.Arg934Gln) rs143374313
NM_017950.4(CCDC40):c.2803G>A (p.Ala935Thr)
NM_017950.4(CCDC40):c.2815G>A (p.Glu939Lys)
NM_017950.4(CCDC40):c.281A>T (p.Glu94Val) rs2143577082
NM_017950.4(CCDC40):c.2821C>T (p.His941Tyr)
NM_017950.4(CCDC40):c.2832+297G>A rs1187849857
NM_017950.4(CCDC40):c.2832+306G>T rs1435853783
NM_017950.4(CCDC40):c.2832+385_2832+470del rs2143762791
NM_017950.4(CCDC40):c.2832+462_2832+490dup rs758946774
NM_017950.4(CCDC40):c.2832G>A (p.Lys944=) rs2143759904
NM_017950.4(CCDC40):c.2836A>G (p.Arg946Gly) rs2143775943
NM_017950.4(CCDC40):c.2842G>A (p.Gly948Arg)
NM_017950.4(CCDC40):c.2891C>T (p.Ala964Val)
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.2907G>C (p.Glu969Asp)
NM_017950.4(CCDC40):c.2926G>C (p.Glu976Gln) rs761440789
NM_017950.4(CCDC40):c.2929G>T (p.Gly977Trp)
NM_017950.4(CCDC40):c.2953G>T (p.Ala985Ser)
NM_017950.4(CCDC40):c.2963G>A (p.Arg988His) rs778921041
NM_017950.4(CCDC40):c.2976C>A (p.His992Gln) rs2038791503
NM_017950.4(CCDC40):c.2995C>A (p.Arg999Ser)
NM_017950.4(CCDC40):c.2995C>T (p.Arg999Cys) rs546342011
NM_017950.4(CCDC40):c.2998C>T (p.Arg1000Trp)
NM_017950.4(CCDC40):c.2T>G (p.Met1Arg)
NM_017950.4(CCDC40):c.3017G>A (p.Arg1006His)
NM_017950.4(CCDC40):c.3028G>A (p.Asp1010Asn)
NM_017950.4(CCDC40):c.3028_3030delinsAAC (p.Asp1010Asn)
NM_017950.4(CCDC40):c.3038C>T (p.Thr1013Ile) rs1257141883
NM_017950.4(CCDC40):c.3094G>C (p.Glu1032Gln) rs2038828283
NM_017950.4(CCDC40):c.3100C>G (p.Gln1034Glu)
NM_017950.4(CCDC40):c.3103G>A (p.Glu1035Lys)
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.4(CCDC40):c.3133G>A (p.Asp1045Asn)
NM_017950.4(CCDC40):c.3150C>A (p.Asp1050Glu)
NM_017950.4(CCDC40):c.3151C>G (p.Leu1051Val)
NM_017950.4(CCDC40):c.3173A>C (p.Lys1058Thr)
NM_017950.4(CCDC40):c.3183C>T (p.Asn1061=) rs1567819545
NM_017950.4(CCDC40):c.3229G>A (p.Ala1077Thr)
NM_017950.4(CCDC40):c.3250G>C (p.Val1084Leu) rs546314844
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His) rs200145777
NM_017950.4(CCDC40):c.3266C>A (p.Ser1089Tyr) rs762447884
NM_017950.4(CCDC40):c.3274T>C (p.Ser1092Pro)
NM_017950.4(CCDC40):c.3275C>A (p.Ser1092Tyr)
NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val) rs1060501721
NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs) rs1567819753
NM_017950.4(CCDC40):c.3289C>T (p.Arg1097Cys)
NM_017950.4(CCDC40):c.3296G>A (p.Arg1099His)
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu) rs368814379
NM_017950.4(CCDC40):c.3353A>G (p.Tyr1118Cys)
NM_017950.4(CCDC40):c.3355C>T (p.Pro1119Ser)
NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys)
NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu) rs367605498
NM_017950.4(CCDC40):c.3367G>A (p.Glu1123Lys)
NM_017950.4(CCDC40):c.3416C>A (p.Pro1139Gln)
NM_017950.4(CCDC40):c.344C>T (p.Pro115Leu) rs754194373
NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr) rs750628862
NM_017950.4(CCDC40):c.398G>C (p.Ser133Thr) rs769499619
NM_017950.4(CCDC40):c.3G>A (p.Met1Ile) rs2143550064
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg)
NM_017950.4(CCDC40):c.403G>A (p.Glu135Lys)
NM_017950.4(CCDC40):c.409G>T (p.Gly137Cys)
NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys) rs2143570150
NM_017950.4(CCDC40):c.466G>A (p.Val156Ile)
NM_017950.4(CCDC40):c.479A>G (p.Glu160Gly) rs2037239982
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys) rs2143578223
NM_017950.4(CCDC40):c.552+5G>A rs2037242772
NM_017950.4(CCDC40):c.552+6T>A rs2037242845
NM_017950.4(CCDC40):c.553-6C>A rs758045878
NM_017950.4(CCDC40):c.565G>A (p.Glu189Lys) rs372456780
NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala)
NM_017950.4(CCDC40):c.590C>A (p.Pro197Gln)
NM_017950.4(CCDC40):c.595G>C (p.Gly199Arg)
NM_017950.4(CCDC40):c.606C>G (p.His202Gln)
NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp) rs753704549
NM_017950.4(CCDC40):c.635T>G (p.Ile212Ser)
NM_017950.4(CCDC40):c.648C>A (p.Asp216Glu)
NM_017950.4(CCDC40):c.676+2_676+3dup rs756160039
NM_017950.4(CCDC40):c.676+4C>A rs2037454418
NM_017950.4(CCDC40):c.676+5C>A rs776691453
NM_017950.4(CCDC40):c.682C>T (p.Pro228Ser) rs878855043
NM_017950.4(CCDC40):c.691G>A (p.Val231Met)
NM_017950.4(CCDC40):c.694C>T (p.Pro232Ser)
NM_017950.4(CCDC40):c.757A>G (p.Thr253Ala)
NM_017950.4(CCDC40):c.769G>A (p.Ala257Thr)
NM_017950.4(CCDC40):c.774G>A (p.Met258Ile)
NM_017950.4(CCDC40):c.782G>C (p.Arg261Thr)
NM_017950.4(CCDC40):c.805G>A (p.Glu269Lys)
NM_017950.4(CCDC40):c.93+4A>G
NM_017950.4(CCDC40):c.931C>A (p.Gln311Lys) rs1555891851
NM_017950.4(CCDC40):c.941T>C (p.Val314Ala)
NM_017950.4(CCDC40):c.950C>G (p.Thr317Ser) rs751751403
NM_017950.4(CCDC40):c.950C>T (p.Thr317Ile)
NM_017950.4(CCDC40):c.970C>T (p.Arg324Trp)
NM_017950.4(CCDC40):c.974A>G (p.Gln325Arg)
NM_017950.4(CCDC40):c.983G>A (p.Gly328Glu)
NM_017950.4(CCDC40):c.985G>T (p.Val329Leu) rs745445950

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