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)
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rs762447884
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NM_017950.4(CCDC40):c.3274T>C (p.Ser1092Pro)
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NM_017950.4(CCDC40):c.3275C>A (p.Ser1092Tyr)
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NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val)
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rs1060501721
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NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs)
|
rs1567819753
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NM_017950.4(CCDC40):c.3289C>T (p.Arg1097Cys)
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NM_017950.4(CCDC40):c.3296G>A (p.Arg1099His)
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NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu)
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rs368814379
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NM_017950.4(CCDC40):c.3353A>G (p.Tyr1118Cys)
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NM_017950.4(CCDC40):c.3355C>T (p.Pro1119Ser)
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NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys)
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NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu)
|
rs367605498
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NM_017950.4(CCDC40):c.3367G>A (p.Glu1123Lys)
|
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NM_017950.4(CCDC40):c.3416C>A (p.Pro1139Gln)
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NM_017950.4(CCDC40):c.344C>T (p.Pro115Leu)
|
rs754194373
|
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NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr)
|
rs750628862
|
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NM_017950.4(CCDC40):c.398G>C (p.Ser133Thr)
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rs769499619
|
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NM_017950.4(CCDC40):c.3G>A (p.Met1Ile)
|
rs2143550064
|
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NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg)
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NM_017950.4(CCDC40):c.403G>A (p.Glu135Lys)
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NM_017950.4(CCDC40):c.409G>T (p.Gly137Cys)
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NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys)
|
rs2143570150
|
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NM_017950.4(CCDC40):c.466G>A (p.Val156Ile)
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NM_017950.4(CCDC40):c.479A>G (p.Glu160Gly)
|
rs2037239982
|
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NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)
|
rs770564150
|
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NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys)
|
rs2143578223
|
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NM_017950.4(CCDC40):c.552+5G>A
|
rs2037242772
|
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NM_017950.4(CCDC40):c.552+6T>A
|
rs2037242845
|
|
NM_017950.4(CCDC40):c.553-6C>A
|
rs758045878
|
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NM_017950.4(CCDC40):c.565G>A (p.Glu189Lys)
|
rs372456780
|
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NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala)
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NM_017950.4(CCDC40):c.590C>A (p.Pro197Gln)
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NM_017950.4(CCDC40):c.595G>C (p.Gly199Arg)
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NM_017950.4(CCDC40):c.606C>G (p.His202Gln)
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NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp)
|
rs753704549
|
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NM_017950.4(CCDC40):c.635T>G (p.Ile212Ser)
|
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NM_017950.4(CCDC40):c.648C>A (p.Asp216Glu)
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|
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NM_017950.4(CCDC40):c.676+2_676+3dup
|
rs756160039
|
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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)
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NM_017950.4(CCDC40):c.757A>G (p.Thr253Ala)
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|
NM_017950.4(CCDC40):c.769G>A (p.Ala257Thr)
|
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NM_017950.4(CCDC40):c.774G>A (p.Met258Ile)
|
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NM_017950.4(CCDC40):c.782G>C (p.Arg261Thr)
|
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NM_017950.4(CCDC40):c.805G>A (p.Glu269Lys)
|
|
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NM_017950.4(CCDC40):c.93+4A>G
|
|
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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)
|
|
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NM_017950.4(CCDC40):c.974A>G (p.Gln325Arg)
|
|
|
NM_017950.4(CCDC40):c.983G>A (p.Gly328Glu)
|
|
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NM_017950.4(CCDC40):c.985G>T (p.Val329Leu)
|
rs745445950
|
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