ClinVar Miner

List of variants in gene CCDC40 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 648
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527 0.98631
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=) rs35578653 0.52425
NM_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_017950.4(CCDC40):c.677-4C>G rs2289530 0.19337
NM_017950.4(CCDC40):c.1159+12C>T rs2289533 0.19106
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met) rs60684213 0.11874
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531 0.09951
NM_017950.4(CCDC40):c.93+18C>A rs8074956 0.06246
NM_017950.4(CCDC40):c.507G>A (p.Ser169=) rs2885349 0.05290
NM_017950.4(CCDC40):c.553-17G>C rs7223400 0.04712
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=) rs61734950 0.04617
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=) rs1982243 0.02985
NM_017950.4(CCDC40):c.504G>A (p.Pro168=) rs74000351 0.02786
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027 0.01818
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr) rs61998241 0.01690
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=) rs74692882 0.01622
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354 0.01613
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266 0.01523
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=) rs4889815 0.00968
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_017950.4(CCDC40):c.1441-18C>G rs181295177 0.00530
NM_017950.4(CCDC40):c.2832+20G>A rs78493584 0.00516
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007 0.00481
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436 0.00414
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr) rs116795025 0.00354
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr) rs141185078 0.00327
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
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.2785G>A (p.Gly929Ser) rs59896146 0.00264
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.180G>A (p.Ala60=) rs185006459 0.00183
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_017950.4(CCDC40):c.1440+16G>A rs192026179 0.00155
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606 0.00113
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=) rs145998578 0.00083
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val) rs201126001 0.00081
NM_017950.4(CCDC40):c.3021+12C>T rs377169531 0.00079
NM_017950.4(CCDC40):c.1722C>A (p.Thr574=) rs201559168 0.00078
NM_017950.4(CCDC40):c.1806+8C>T rs182104049 0.00076
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.699T>C (p.Asp233=) rs9893189 0.00069
NM_017950.4(CCDC40):c.51G>A (p.Ser17=) rs141650385 0.00063
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_017950.4(CCDC40):c.2061G>A (p.Arg687=) rs189617808 0.00058
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355 0.00054
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.3130T>A (p.Phe1044Ile) rs377222257 0.00038
NM_017950.4(CCDC40):c.1824G>A (p.Thr608=) rs371383125 0.00036
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.248del (p.Ala83fs) rs397515393 0.00029
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys) rs2289532 0.00028
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.1807-10T>G rs369273325 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.2601G>A (p.Glu867=) rs200841842 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.1317+20C>T rs372184999 0.00013
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His) rs572440259 0.00013
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.3348C>T (p.Asp1116=) rs377559639 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.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_017950.4(CCDC40):c.661G>A (p.Val221Ile) rs371890970 0.00010
NM_017950.4(CCDC40):c.666G>A (p.Ser222=) rs199671771 0.00010
NM_017950.4(CCDC40):c.696C>T (p.Pro232=) rs200710012 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.1563-15G>A rs752972291 0.00009
NM_017950.4(CCDC40):c.2235+15A>G rs566067180 0.00009
NM_017950.4(CCDC40):c.29+11C>G rs769092437 0.00009
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300 0.00008
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.2325G>A (p.Val775=) rs1483877024 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.1164G>A (p.Ala388=) rs367861877 0.00007
NM_017950.4(CCDC40):c.1210A>G (p.Met404Val) rs774090634 0.00007
NM_017950.4(CCDC40):c.1441-8G>T rs762319130 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.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.1562+12C>T rs369729537 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.2449+19G>A rs537011469 0.00006
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His) rs373717036 0.00006
NM_017950.4(CCDC40):c.2616G>A (p.Leu872=) rs372369514 0.00006
NM_017950.4(CCDC40):c.3288G>A (p.Glu1096=) rs373348755 0.00006
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) rs374909386 0.00006
NM_017950.4(CCDC40):c.39G>A (p.Pro13=) rs777639251 0.00006
NM_017950.4(CCDC40):c.636C>T (p.Ile212=) rs754379326 0.00006
NM_017950.4(CCDC40):c.1159+9A>G rs754557686 0.00005
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser) rs936824026 0.00005
NM_017950.4(CCDC40):c.1806+9G>A rs766278175 0.00005
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423 0.00005
NM_017950.4(CCDC40):c.1989+19G>A rs768348648 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.1160-10C>T rs757777653 0.00004
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=) rs560402881 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.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_017950.4(CCDC40):c.2853G>A (p.Leu951=) rs768280461 0.00004
NM_017950.4(CCDC40):c.2876G>A (p.Arg959His) rs369114517 0.00004
NM_017950.4(CCDC40):c.29+7C>G rs558574170 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.3181-15T>C rs376546339 0.00004
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln) rs771414681 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.882C>T (p.Ala294=) rs528463057 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.1458C>T (p.Asp486=) rs752463994 0.00003
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His) rs757879326 0.00003
NM_017950.4(CCDC40):c.189A>C (p.Ala63=) rs1469935603 0.00003
NM_017950.4(CCDC40):c.2013C>T (p.Asn671=) rs375603538 0.00003
NM_017950.4(CCDC40):c.21G>A (p.Ala7=) rs766369570 0.00003
NM_017950.4(CCDC40):c.2460G>A (p.Glu820=) rs369702545 0.00003
NM_017950.4(CCDC40):c.2619+9G>A rs752961530 0.00003
NM_017950.4(CCDC40):c.2800C>T (p.Arg934Trp) rs775749296 0.00003
NM_017950.4(CCDC40):c.2925C>T (p.Ala975=) rs776232255 0.00003
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met) rs201104817 0.00003
NM_017950.4(CCDC40):c.3012C>T (p.Asp1004=) rs372975825 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.3258G>C (p.Leu1086=) rs759098835 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.336G>A (p.Thr112=) rs539062213 0.00003
NM_017950.4(CCDC40):c.3409G>A (p.Glu1137Lys) rs774630271 0.00003
NM_017950.4(CCDC40):c.438C>T (p.Thr146=) rs147879748 0.00003
NM_017950.4(CCDC40):c.676+11C>G rs761925173 0.00003
NM_017950.4(CCDC40):c.677-8C>T rs762961824 0.00003
NM_017950.4(CCDC40):c.1073dup (p.Arg359fs) rs781507988 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.141C>T (p.Val47=) rs756511342 0.00002
NM_017950.4(CCDC40):c.1564G>A (p.Gly522Arg) rs764252103 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.2292C>T (p.Asp764=) rs758047721 0.00002
NM_017950.4(CCDC40):c.2298C>T (p.His766=) rs754496723 0.00002
NM_017950.4(CCDC40):c.2309C>T (p.Ala770Val) rs749795585 0.00002
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=) rs1225610254 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.3021+8G>A rs1434081760 0.00002
NM_017950.4(CCDC40):c.3045C>T (p.Thr1015=) rs1474341938 0.00002
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798 0.00002
NM_017950.4(CCDC40):c.399C>T (p.Ser133=) rs371207249 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.759C>T (p.Thr253=) rs183808038 0.00002
NM_017950.4(CCDC40):c.831G>A (p.Gln277=) rs771932934 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.1030C>G (p.Leu344Val) rs374337192 0.00001
NM_017950.4(CCDC40):c.1056C>T (p.His352=) rs771256494 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.1160-9G>A rs779328167 0.00001
NM_017950.4(CCDC40):c.1239C>T (p.Asp413=) rs751991087 0.00001
NM_017950.4(CCDC40):c.1240G>A (p.Asp414Asn) rs755164687 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.1413C>A (p.Thr471=) rs2037824553 0.00001
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) rs2289526 0.00001
NM_017950.4(CCDC40):c.1509G>C (p.Leu503=) rs200124291 0.00001
NM_017950.4(CCDC40):c.1512G>A (p.Val504=) rs1312465619 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.1533G>A (p.Glu511=) rs1230162921 0.00001
NM_017950.4(CCDC40):c.1593C>T (p.Asp531=) rs746661400 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.168C>T (p.Val56=) rs770942016 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.1884G>A (p.Thr628=) rs748572237 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 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.2118C>T (p.Asn706=) rs773715618 0.00001
NM_017950.4(CCDC40):c.2124C>T (p.Leu708=) rs1598538668 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.2310G>A (p.Ala770=) rs376945782 0.00001
NM_017950.4(CCDC40):c.2322G>A (p.Gln774=) rs1327058477 0.00001
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter) rs747233125 0.00001
NM_017950.4(CCDC40):c.2456T>C (p.Ile819Thr) rs1316337946 0.00001
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579 0.00001
NM_017950.4(CCDC40):c.258T>C (p.Tyr86=) rs745925890 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.2899C>T (p.Arg967Cys) rs1483239449 0.00001
NM_017950.4(CCDC40):c.29+5G>A rs934195206 0.00001
NM_017950.4(CCDC40):c.29+8G>A rs772706089 0.00001
NM_017950.4(CCDC40):c.2955G>A (p.Ala985=) rs201511980 0.00001
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter) rs863224519 0.00001
NM_017950.4(CCDC40):c.3142G>A (p.Glu1048Lys) rs997113449 0.00001
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=) rs1028095921 0.00001
NM_017950.4(CCDC40):c.3148G>A (p.Asp1050Asn) rs111550470 0.00001
NM_017950.4(CCDC40):c.315G>A (p.Gly105=) rs1398449246 0.00001
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter) rs1312712049 0.00001
NM_017950.4(CCDC40):c.3180+7G>A rs764901506 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.3216T>G (p.Leu1072=) rs758698381 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.415C>T (p.Gln139Ter) rs764551914 0.00001
NM_017950.4(CCDC40):c.624C>T (p.His208=) rs370581662 0.00001
NM_017950.4(CCDC40):c.627G>C (p.Gly209=) rs758242176 0.00001
NM_017950.4(CCDC40):c.708C>T (p.Pro236=) rs769809719 0.00001
NM_017950.4(CCDC40):c.780G>A (p.Glu260=) rs893159224 0.00001
NM_017950.4(CCDC40):c.804C>T (p.Asp268=) rs756325484 0.00001
NM_017950.4(CCDC40):c.855+10C>T rs376261068 0.00001
NM_017950.4(CCDC40):c.901C>T (p.Arg301Ter) rs201223986 0.00001
NM_017950.4(CCDC40):c.902G>A (p.Arg301Gln) rs191632512 0.00001
NM_017950.4(CCDC40):c.939+11G>A rs754748154 0.00001
NM_017950.4(CCDC40):c.940-2A>G rs750708201 0.00001
NM_017950.4(CCDC40):c.956A>G (p.Gln319Arg) rs1428646439 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NC_000017.10:g.(?_78021971)_(78024070_?)del
NC_000017.10:g.(?_78039264)_(78039425_?)del
NC_000017.10:g.(?_78071024)_(78073574_?)dup
NC_000017.10:g.(?_78071024)_(78073594_?)dup
NC_000017.11:g.(?_80058474)_(80059000_?)del
NC_000017.11:g.(?_80085983)_(80095471_?)dup
NM_017950.4(CCDC40):c.1014G>A (p.Leu338=)
NM_017950.4(CCDC40):c.102A>G (p.Pro34=)
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.1083G>A (p.Gln361=) rs1598488399
NM_017950.4(CCDC40):c.1104C>T (p.Ala368=)
NM_017950.4(CCDC40):c.1108C>T (p.Arg370Cys)
NM_017950.4(CCDC40):c.1110C>T (p.Arg370=)
NM_017950.4(CCDC40):c.1136C>A (p.Ala379Asp) rs976460197
NM_017950.4(CCDC40):c.1137C>T (p.Ala379=)
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.1159+13G>A
NM_017950.4(CCDC40):c.1159+15C>T
NM_017950.4(CCDC40):c.1159+3A>T rs1185054167
NM_017950.4(CCDC40):c.1160-13C>T rs2037808461
NM_017950.4(CCDC40):c.1160-15C>T
NM_017950.4(CCDC40):c.1160-15dup
NM_017950.4(CCDC40):c.1160-17C>T
NM_017950.4(CCDC40):c.1160-2A>C
NM_017950.4(CCDC40):c.1160-3C>T rs2143648368
NM_017950.4(CCDC40):c.1160-4G>A
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.1225C>T (p.Gln409Ter) rs1472033145
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.1263G>A (p.Val421=)
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) rs775299709
NM_017950.4(CCDC40):c.1280C>A (p.Thr427Lys)
NM_017950.4(CCDC40):c.1286G>C (p.Arg429Thr)
NM_017950.4(CCDC40):c.1293G>A (p.Arg431=)
NM_017950.4(CCDC40):c.12G>C (p.Pro4=)
NM_017950.4(CCDC40):c.1302C>G (p.Ile434Met)
NM_017950.4(CCDC40):c.1317+16G>A
NM_017950.4(CCDC40):c.1318-14A>G
NM_017950.4(CCDC40):c.1318-19T>C
NM_017950.4(CCDC40):c.1318-5C>G
NM_017950.4(CCDC40):c.1326T>C (p.Tyr442=)
NM_017950.4(CCDC40):c.1345C>G (p.Arg449Gly) rs387907093
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.4(CCDC40):c.1354C>A (p.Gln452Lys)
NM_017950.4(CCDC40):c.13G>A (p.Gly5Ser)
NM_017950.4(CCDC40):c.1416del (p.Ile473fs) rs764011276
NM_017950.4(CCDC40):c.1440+17C>A
NM_017950.4(CCDC40):c.1440+17C>T
NM_017950.4(CCDC40):c.1440+19G>A
NM_017950.4(CCDC40):c.1441-10T>C
NM_017950.4(CCDC40):c.1441-13C>G
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.147C>T (p.Ser49=) rs1301657020
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys) rs200858130
NM_017950.4(CCDC40):c.1485C>A (p.Ile495=) rs771128827
NM_017950.4(CCDC40):c.1486A>T (p.Met496Leu)
NM_017950.4(CCDC40):c.1488G>A (p.Met496Ile) rs774462299
NM_017950.4(CCDC40):c.1527C>T (p.Arg509=)
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu) rs368929374
NM_017950.4(CCDC40):c.1530C>T (p.Asp510=)
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.1536G>A (p.Ala512=)
NM_017950.4(CCDC40):c.1537C>T (p.His513Tyr) rs2038023446
NM_017950.4(CCDC40):c.1557G>A (p.Ala519=)
NM_017950.4(CCDC40):c.1561A>G (p.Arg521Gly) rs2038024808
NM_017950.4(CCDC40):c.1563-16C>T
NM_017950.4(CCDC40):c.1563-5T>C rs2143733765
NM_017950.4(CCDC40):c.1565G>A (p.Gly522Glu) rs947035837
NM_017950.4(CCDC40):c.1571del (p.Gln524fs)
NM_017950.4(CCDC40):c.1579del (p.Ala527fs) rs2143733843
NM_017950.4(CCDC40):c.1602T>A (p.Ile534=)
NM_017950.4(CCDC40):c.1607C>G (p.Ala536Gly)
NM_017950.4(CCDC40):c.1618T>C (p.Ser540Pro) rs1598533116
NM_017950.4(CCDC40):c.1620del (p.Ile541fs) rs878855041
NM_017950.4(CCDC40):c.163del (p.Glu55fs)
NM_017950.4(CCDC40):c.1656G>A (p.Ala552=)
NM_017950.4(CCDC40):c.1659C>T (p.Ser553=)
NM_017950.4(CCDC40):c.1662C>A (p.Ile554=)
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=)
NM_017950.4(CCDC40):c.1696C>T (p.Gln566Ter)
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg) rs199786478
NM_017950.4(CCDC40):c.1741_1760del (p.Ser581fs)
NM_017950.4(CCDC40):c.174C>A (p.Thr58=)
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.1806+5G>A
NM_017950.4(CCDC40):c.1824G>T (p.Thr608=) rs371383125
NM_017950.4(CCDC40):c.1848A>G (p.Gln616=)
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.1889_1890delinsTG (p.Ala630Val) rs386799737
NM_017950.4(CCDC40):c.18C>T (p.Gly6=)
NM_017950.4(CCDC40):c.1924_1926del (p.Ser642del) rs750295453
NM_017950.4(CCDC40):c.1949A>C (p.Asn650Thr) rs201064110
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter) rs387907092
NM_017950.4(CCDC40):c.1953G>A (p.Gln651=)
NM_017950.4(CCDC40):c.1968G>T (p.Leu656=)
NM_017950.4(CCDC40):c.1989+1G>A rs745993158
NM_017950.4(CCDC40):c.1989+5G>A
NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp)
NM_017950.4(CCDC40):c.1990-10A>G rs1598538379
NM_017950.4(CCDC40):c.2053A>G (p.Ser685Gly)
NM_017950.4(CCDC40):c.2071C>T (p.His691Tyr)
NM_017950.4(CCDC40):c.207G>T (p.Val69=)
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.2160G>A (p.Thr720=)
NM_017950.4(CCDC40):c.2170G>A (p.Glu724Lys)
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs) rs751191119
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.2205G>A (p.Lys735=) rs1598538834
NM_017950.4(CCDC40):c.2211G>T (p.Leu737=)
NM_017950.4(CCDC40):c.2224T>C (p.Ser742Pro)
NM_017950.4(CCDC40):c.2235+11A>G
NM_017950.4(CCDC40):c.2235+1G>T rs1568709952
NM_017950.4(CCDC40):c.2236-2del rs1336208372
NM_017950.4(CCDC40):c.2236-6G>A rs1402665990
NM_017950.4(CCDC40):c.2236-8C>T
NM_017950.4(CCDC40):c.225A>G (p.Ala75=)
NM_017950.4(CCDC40):c.2260C>T (p.Leu754Phe)
NM_017950.4(CCDC40):c.2289C>T (p.Ile763=)
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.2395G>A (p.Asp799Asn) rs757730799
NM_017950.4(CCDC40):c.240A>G (p.Glu80=) rs2143576891
NM_017950.4(CCDC40):c.2449+12C>T
NM_017950.4(CCDC40):c.2449+13G>A
NM_017950.4(CCDC40):c.2449+15G>A
NM_017950.4(CCDC40):c.2449+9C>T
NM_017950.4(CCDC40):c.2450-1G>A rs774081599
NM_017950.4(CCDC40):c.2450-4A>G
NM_017950.4(CCDC40):c.2457del (p.Ile819fs) rs1277942930
NM_017950.4(CCDC40):c.2472G>A (p.Lys824=)
NM_017950.4(CCDC40):c.2488G>A (p.Glu830Lys)
NM_017950.4(CCDC40):c.2498dup (p.Met833fs)
NM_017950.4(CCDC40):c.2506C>T (p.Leu836=)
NM_017950.4(CCDC40):c.2507T>C (p.Leu836Pro)
NM_017950.4(CCDC40):c.2514C>T (p.Asn838=)
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.2562G>A (p.Ser854=) rs760217617
NM_017950.4(CCDC40):c.2566G>C (p.Glu856Gln) rs1000468581
NM_017950.4(CCDC40):c.2571G>A (p.Leu857=)
NM_017950.4(CCDC40):c.2590_2591insAC (p.Thr864fs)
NM_017950.4(CCDC40):c.2592A>G (p.Thr864=)
NM_017950.4(CCDC40):c.2597A>G (p.Asn866Ser) rs2038617610
NM_017950.4(CCDC40):c.2610C>G (p.Arg870=)
NM_017950.4(CCDC40):c.2613G>A (p.Ser871=)
NM_017950.4(CCDC40):c.2614C>T (p.Leu872=) rs1351266176
NM_017950.4(CCDC40):c.2615T>C (p.Leu872Pro)
NM_017950.4(CCDC40):c.2619+10T>C
NM_017950.4(CCDC40):c.2619+16C>T
NM_017950.4(CCDC40):c.2619+17G>A
NM_017950.4(CCDC40):c.2619+17G>T
NM_017950.4(CCDC40):c.2619+19A>G
NM_017950.4(CCDC40):c.2619+5G>A
NM_017950.4(CCDC40):c.2620-18G>A
NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter) rs755004291
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.2670C>T (p.Ser890=) rs371516381
NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter) rs773796940
NM_017950.4(CCDC40):c.267T>C (p.Ala89=)
NM_017950.4(CCDC40):c.2693A>G (p.Asn898Ser)
NM_017950.4(CCDC40):c.2711+11G>T rs1434924240
NM_017950.4(CCDC40):c.2711+1G>A
NM_017950.4(CCDC40):c.2712-17C>T
NM_017950.4(CCDC40):c.2712-1G>A rs370706991
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2721T>G (p.Ile907Met) rs2038663366
NM_017950.4(CCDC40):c.2727T>C (p.Leu909=) rs1555593479
NM_017950.4(CCDC40):c.2740del (p.Ile914fs)
NM_017950.4(CCDC40):c.274G>A (p.Glu92Lys)
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
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.2832+16C>T
NM_017950.4(CCDC40):c.2832+17G>A
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.2852dup (p.Lys952fs) rs878855042
NM_017950.4(CCDC40):c.2874C>T (p.Ile958=)
NM_017950.4(CCDC40):c.288C>T (p.Tyr96=)
NM_017950.4(CCDC40):c.2891C>T (p.Ala964Val)
NM_017950.4(CCDC40):c.29+12C>G
NM_017950.4(CCDC40):c.29+1_29+13dup rs771732758
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.4(CCDC40):c.2907G>C (p.Glu969Asp)
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)
NM_017950.4(CCDC40):c.2925C>G (p.Ala975=)
NM_017950.4(CCDC40):c.2931G>T (p.Gly977=)
NM_017950.4(CCDC40):c.2944dup (p.Asp982fs)
NM_017950.4(CCDC40):c.2953G>T (p.Ala985Ser)
NM_017950.4(CCDC40):c.2963G>A (p.Arg988His) rs778921041
NM_017950.4(CCDC40):c.2967C>G (p.Thr989=) rs199575834
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.2T>G (p.Met1Arg)
NM_017950.4(CCDC40):c.30-7A>C
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs) rs1278589861
NM_017950.4(CCDC40):c.3017G>A (p.Arg1006His)
NM_017950.4(CCDC40):c.3022-4C>G
NM_017950.4(CCDC40):c.3022-6T>C
NM_017950.4(CCDC40):c.3028G>A (p.Asp1010Asn)
NM_017950.4(CCDC40):c.3038C>T (p.Thr1013Ile) rs1257141883
NM_017950.4(CCDC40):c.3063A>G (p.Glu1021=)
NM_017950.4(CCDC40):c.3093A>C (p.Leu1031=)
NM_017950.4(CCDC40):c.309G>A (p.Pro103=)
NM_017950.4(CCDC40):c.3100C>T (p.Gln1034Ter)
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs) rs1418585908
NM_017950.4(CCDC40):c.3133G>A (p.Asp1045Asn)
NM_017950.4(CCDC40):c.3138A>T (p.Thr1046=)
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3159G>T (p.Arg1053=)
NM_017950.4(CCDC40):c.3181-2A>G rs762664261
NM_017950.4(CCDC40):c.3181-4C>A
NM_017950.4(CCDC40):c.3181-4C>G
NM_017950.4(CCDC40):c.3183C>T (p.Asn1061=) rs1567819545
NM_017950.4(CCDC40):c.3224T>C (p.Leu1075Pro)
NM_017950.4(CCDC40):c.3240G>A (p.Glu1080=)
NM_017950.4(CCDC40):c.3250G>C (p.Val1084Leu) rs546314844
NM_017950.4(CCDC40):c.3255C>T (p.Phe1085=)
NM_017950.4(CCDC40):c.3266C>A (p.Ser1089Tyr) rs762447884
NM_017950.4(CCDC40):c.3274T>C (p.Ser1092Pro)
NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val) rs1060501721
NM_017950.4(CCDC40):c.327T>C (p.Ala109=)
NM_017950.4(CCDC40):c.3289C>T (p.Arg1097Cys)
NM_017950.4(CCDC40):c.3291C>T (p.Arg1097=)
NM_017950.4(CCDC40):c.3296G>A (p.Arg1099His)
NM_017950.4(CCDC40):c.3298C>T (p.Leu1100=)
NM_017950.4(CCDC40):c.3321C>T (p.Ile1107=)
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu) rs368814379
NM_017950.4(CCDC40):c.3343C>A (p.Arg1115=)
NM_017950.4(CCDC40):c.3349G>T (p.Glu1117Ter) rs145595957
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys)
NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu) rs367605498
NM_017950.4(CCDC40):c.3363C>T (p.Phe1121=)
NM_017950.4(CCDC40):c.336G>T (p.Thr112=)
NM_017950.4(CCDC40):c.3408C>G (p.Leu1136=) rs186591691
NM_017950.4(CCDC40):c.344C>T (p.Pro115Leu) rs754194373
NM_017950.4(CCDC40):c.345G>A (p.Pro115=)
NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr) rs750628862
NM_017950.4(CCDC40):c.390T>C (p.Asp130=)
NM_017950.4(CCDC40):c.390_391dup (p.Ser131fs)
NM_017950.4(CCDC40):c.394_395del (p.Ser131_Val132insTer) rs2143577665
NM_017950.4(CCDC40):c.397_422dup (p.Phe141fs) rs2037236648
NM_017950.4(CCDC40):c.398G>C (p.Ser133Thr) rs769499619
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg)
NM_017950.4(CCDC40):c.403G>A (p.Glu135Lys)
NM_017950.4(CCDC40):c.408T>C (p.Ala136=)
NM_017950.4(CCDC40):c.409G>T (p.Gly137Cys)
NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys) rs2143570150
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) rs1568667609
NM_017950.4(CCDC40):c.462G>A (p.Arg154=)
NM_017950.4(CCDC40):c.463del (p.Arg155fs)
NM_017950.4(CCDC40):c.479A>G (p.Glu160Gly) rs2037239982
NM_017950.4(CCDC40):c.489C>T (p.His163=)
NM_017950.4(CCDC40):c.48A>G (p.Gly16=) rs2143570184
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.504G>T (p.Pro168=)
NM_017950.4(CCDC40):c.534G>A (p.Gly178=) rs2143578294
NM_017950.4(CCDC40):c.552+6T>A rs2037242845
NM_017950.4(CCDC40):c.553-10C>G
NM_017950.4(CCDC40):c.553-5C>T rs1598483962
NM_017950.4(CCDC40):c.564A>G (p.Thr188=) rs2037448406
NM_017950.4(CCDC40):c.565G>A (p.Glu189Lys) rs372456780
NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala)
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.672G>A (p.Glu224=)
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.676+9C>A
NM_017950.4(CCDC40):c.677-16C>T
NM_017950.4(CCDC40):c.677-18C>T
NM_017950.4(CCDC40):c.677-1G>T
NM_017950.4(CCDC40):c.677-2A>G
NM_017950.4(CCDC40):c.677-3del rs886038641
NM_017950.4(CCDC40):c.677-4C>A
NM_017950.4(CCDC40):c.682C>T (p.Pro228Ser) rs878855043
NM_017950.4(CCDC40):c.687_696del (p.Gly230fs)
NM_017950.4(CCDC40):c.690G>T (p.Gly230=) rs750834095
NM_017950.4(CCDC40):c.691G>A (p.Val231Met)
NM_017950.4(CCDC40):c.694C>T (p.Pro232Ser)
NM_017950.4(CCDC40):c.69G>A (p.Lys23=)
NM_017950.4(CCDC40):c.712G>T (p.Glu238Ter)
NM_017950.4(CCDC40):c.756C>T (p.Ser252=)
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.783_784del (p.Arg261fs) rs757076408
NM_017950.4(CCDC40):c.792C>T (p.Ser264=)
NM_017950.4(CCDC40):c.805G>A (p.Glu269Lys)
NM_017950.4(CCDC40):c.832C>T (p.Leu278=)
NM_017950.4(CCDC40):c.855+12T>A
NM_017950.4(CCDC40):c.855+1G>A rs1346603171
NM_017950.4(CCDC40):c.855+20_855+24del rs2037498801
NM_017950.4(CCDC40):c.856-9T>C rs1193011376
NM_017950.4(CCDC40):c.867A>G (p.Val289=) rs1386295352
NM_017950.4(CCDC40):c.93+14T>C
NM_017950.4(CCDC40):c.93+15G>A
NM_017950.4(CCDC40):c.93+20G>A
NM_017950.4(CCDC40):c.93+4A>G
NM_017950.4(CCDC40):c.93+7T>C
NM_017950.4(CCDC40):c.931C>A (p.Gln311Lys) rs1555891851
NM_017950.4(CCDC40):c.939+10C>T
NM_017950.4(CCDC40):c.939+13C>G
NM_017950.4(CCDC40):c.94-12A>G
NM_017950.4(CCDC40):c.940-1G>C rs2037540861
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.985G>T (p.Val329Leu) rs745445950

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