ClinVar Miner

List of variants reported as likely benign for cerebellar disorder

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10652
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HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75596
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_014363.6(SACS):c.*484T>C rs4770433 0.36808
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_001372574.1(ATXN2):c.3043-12G>A rs2073950 0.19844
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=) rs76696028 0.13779
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_173500.4(TTBK2):c.*482C>G rs16957120 0.06388
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06187
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.04821
NM_004115.4(FGF14):c.*1664_*1666del rs141424596 0.04549
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_016169.4(SUFU):c.*1675G>A rs41287466 0.03346
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_003383.5(VLDLR):c.944-5T>C rs35782329 0.03136
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_173500.4(TTBK2):c.*583A>T rs116853892 0.02725
NM_173500.4(TTBK2):c.*678A>G rs78237254 0.02688
NM_018075.5(ANO10):c.*246A>G rs73831273 0.02628
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_018896.5(CACNA1G):c.1479C>T (p.His493=) rs9897406 0.02109
NM_033064.5(ATCAY):c.137-11T>C rs73919387 0.02031
NM_018075.5(ANO10):c.1477-14G>A rs78884042 0.02011
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_001127222.2(CACNA1A):c.3989+16A>G rs149764550 0.01798
NM_000051.4(ATM):c.*1882C>G rs80226715 0.01757
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_001001344.3(ATP2B3):c.407-6G>A rs139607201 0.01600
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro) rs112040665 0.01413
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu) rs362936 0.01411
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=) rs75823828 0.01398
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_001044385.3(TMEM237):c.*3124A>T rs79378497 0.01390
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NC_000016.10:g.75556260C>T rs115739052 0.01305
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_001940.4(ATN1):c.1467G>A (p.Gln489=) rs782253884 0.01283
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01155
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01154
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_005861.4(STUB1):c.642T>C (p.Leu214=) rs79687861 0.01123
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_006946.4(SPTBN2):c.*364C>T rs11828658 0.01074
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_001378452.1(ITPR1):c.1554+17G>A rs80123990 0.01028
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) rs114049933 0.01021
NM_016169.4(SUFU):c.*3086A>G rs73342651 0.01014
NM_016169.4(SUFU):c.*1672A>G rs117196884 0.01007
NM_017791.3(FLVCR2):c.*187T>C rs75002047 0.01000
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_032856.5(WDR73):c.336G>A (p.Gln112=) rs73449331 0.00970
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_016169.4(SUFU):c.*205G>A rs115428806 0.00961
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_032856.5(WDR73):c.41+262G>A rs147776100 0.00888
NM_001386140.1(MTTP):c.*515G>A rs116005476 0.00885
NM_033064.5(ATCAY):c.*2692G>A rs117794052 0.00870
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_002024.6(FMR1):c.18G>T (p.Val6=) rs111485627 0.00830
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=) rs73710962 0.00818
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_014053.4(FLVCR1):c.*2860C>A rs138737189 0.00702
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_018718.3(CEP41):c.*1512C>T rs73721889 0.00689
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_000051.4(ATM):c.*44A>G rs55900855 0.00643
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_003383.5(VLDLR):c.*534T>C rs10967349 0.00619
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=) rs6674962 0.00613
NM_016169.4(SUFU):c.*3290C>G rs112808377 0.00612
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*779T>G rs78327467 0.00604
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser) rs7145583 0.00602
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_003383.5(VLDLR):c.-171G>C rs35763266 0.00593
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_016169.4(SUFU):c.-33C>T rs201649559 0.00587
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_007289.4(MME):c.2133G>A (p.Val711=) rs61760409 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_018075.5(ANO10):c.1669-8T>G rs115769245 0.00517
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_016169.4(SUFU):c.1291T>C (p.Leu431=) rs141950577 0.00487
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_198994.3(TGM6):c.-2A>G rs80329336 0.00475
NM_016169.4(SUFU):c.*2157C>T rs181690906 0.00474
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_007289.4(MME):c.1255A>C (p.Met419Leu) rs34931605 0.00459
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_015046.7(SETX):c.7287+207C>T rs45490698 0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His) rs7222276 0.00445
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978 0.00441
NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg) rs151133441 0.00433
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_016169.4(SUFU):c.210T>C (p.Tyr70=) rs35166585 0.00430
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001447.3(FAT2):c.829G>C (p.Val277Leu) rs145834206 0.00429
NM_173500.4(TTBK2):c.*1311G>A rs148272721 0.00429
NM_016169.4(SUFU):c.12G>A (p.Leu4=) rs189234140 0.00425
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_001044385.3(TMEM237):c.*3453T>G rs77771615 0.00420
NM_001044385.3(TMEM237):c.*2137A>G rs115353606 0.00418
NM_001044385.3(TMEM237):c.*2349C>T rs74884418 0.00418
NM_001044385.3(TMEM237):c.*3372C>T rs192214909 0.00418
NM_001044385.3(TMEM237):c.*1107C>T rs143516209 0.00417
NM_001044385.3(TMEM237):c.*1975C>G rs142233268 0.00417
NM_001044385.3(TMEM237):c.*2719G>A rs142852956 0.00417
NM_016169.4(SUFU):c.*2720C>T rs41287468 0.00417
NM_001044385.3(TMEM237):c.*2180G>A rs77649251 0.00416
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_016169.4(SUFU):c.*505T>G rs116570216 0.00412
NM_014053.4(FLVCR1):c.-87G>A rs41296692 0.00410
NM_152617.4(RNF168):c.1132T>C (p.Cys378Arg) rs149004801 0.00401
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_001044385.3(TMEM237):c.*1588G>A rs150141936 0.00396
NM_033064.5(ATCAY):c.*871T>G rs183948049 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_033064.5(ATCAY):c.*313G>A rs141455019 0.00392
NM_001127222.2(CACNA1A):c.5067+20G>A rs184517632 0.00390
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852 0.00381
NM_001044385.3(TMEM237):c.*2431T>G rs142355657 0.00379
NM_014053.4(FLVCR1):c.*166G>A rs41301017 0.00378
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000051.4(ATM):c.*1974C>G rs148781946 0.00368
NM_016169.4(SUFU):c.*2172G>A rs540579682 0.00367
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_004115.4(FGF14):c.*1259C>T rs535930764 0.00357
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671 0.00346
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_001044385.3(TMEM237):c.*2480T>G rs75655554 0.00337
NM_033064.5(ATCAY):c.*26T>C rs190923267 0.00335
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_033064.5(ATCAY):c.647+10C>T rs181866005 0.00331
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057 0.00320
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile) rs144192049 0.00310
NM_016169.4(SUFU):c.*3268G>C rs150653416 0.00308
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001378615.1(CC2D2A):c.-87G>A rs145443888 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_001278064.2(GRM1):c.2043T>C (p.Arg681=) rs143682838 0.00289
NM_001278064.2(GRM1):c.2496T>C (p.Thr832=) rs142675468 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_018718.3(CEP41):c.*136T>G rs148305542 0.00287
NM_018718.3(CEP41):c.*4314T>C rs114939029 0.00286
NM_006946.4(SPTBN2):c.*546T>C rs539068045 0.00285
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val) rs41267702 0.00279
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645 0.00274
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_020680.4(SCYL1):c.877T>G (p.Phe293Val) rs143168314 0.00272
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn) rs144315111 0.00267
NM_001386140.1(MTTP):c.1557+7T>A rs142706742 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_015215.4(CAMTA1):c.3066+20C>T rs147462930 0.00264
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_033064.5(ATCAY):c.*3108C>T rs143949702 0.00262
NM_004977.3(KCNC3):c.2093G>A (p.Arg698His) rs144957827 0.00255
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_004115.4(FGF14):c.*1118G>A rs147404825 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_016169.4(SUFU):c.*61G>A rs184505927 0.00249
NM_015046.7(SETX):c.*168C>T rs115351494 0.00245
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000370.3(TTPA):c.48G>A (p.Ala16=) rs562202164 0.00239
NM_018319.4(TDP1):c.*599G>C rs184066284 0.00238
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
NM_013236.4(ATXN10):c.321G>A (p.Thr107=) rs61733598 0.00223
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048 0.00217
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) rs201609022 0.00214
NM_001379286.1(ZNF423):c.3875A>C (p.Gln1292Pro) rs150302551 0.00213
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
NM_001044385.3(TMEM237):c.*439G>A rs139374574 0.00208
NM_001044385.3(TMEM237):c.*634C>T rs139016907 0.00207
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00199
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg) rs201259375 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_182961.4(SYNE1):c.23461-6A>C rs145098375 0.00194
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334 0.00191
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp) rs145764886 0.00188
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00181
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649 0.00179
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_001077418.3(TMEM231):c.-40C>G rs114889548 0.00177
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290 0.00177
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491 0.00175
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00173
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_018319.4(TDP1):c.*1618T>C rs35308003 0.00169
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=) rs35463342 0.00168
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_015046.7(SETX):c.*2506T>C rs73545065 0.00164
NM_015046.7(SETX):c.*905A>G rs58327306 0.00164
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_024411.5(PDYN):c.*1238A>T rs187098720 0.00163
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796 0.00163
NM_000370.3(TTPA):c.147C>T (p.Asp49=) rs199805621 0.00160
NM_173500.4(TTBK2):c.*1463G>A rs571544379 0.00160
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_018718.3(CEP41):c.*4594C>T rs151309255 0.00159
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val) rs34425379 0.00158
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu) rs193231165 0.00156
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) rs139671268 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00138
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu) rs144242373 0.00137
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg) rs144311414 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_006946.4(SPTBN2):c.1807+13C>T rs151122248 0.00132
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00129
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) rs189695070 0.00128
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167 0.00128
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899 0.00118
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=) rs115059319 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144 0.00114
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser) rs200781463 0.00113
NM_017791.3(FLVCR2):c.*1517T>C rs114442666 0.00113
NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys) rs76782506 0.00112
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_182961.4(SYNE1):c.9651+12G>A rs143173603 0.00111
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_003383.5(VLDLR):c.-111C>T rs374367278 0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile) rs137974312 0.00106
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077 0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_004977.3(KCNC3):c.315G>C (p.Thr105=) rs368049323 0.00104
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His) rs138588008 0.00103
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_001378452.1(ITPR1):c.*1198C>T rs367636150 0.00102
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_000051.4(ATM):c.2125-48T>C rs371067508 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836 0.00101
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn) rs181413894 0.00096
NM_014053.4(FLVCR1):c.*1300A>G rs186133334 0.00096
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 0.00095
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) rs146127619 0.00093
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_001386140.1(MTTP):c.*694A>C rs187658213 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020 0.00088
NM_015215.4(CAMTA1):c.3273C>T (p.His1091=) rs139526435 0.00088
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) rs139253468 0.00081
NM_024411.4(PDYN):c.-382C>T rs188187030 0.00081
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512 0.00081
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) rs145722193 0.00080
NM_014053.4(FLVCR1):c.*284G>A rs41301021 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00080
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397 0.00077
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650 0.00076
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met) rs201616456 0.00076
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_001379286.1(ZNF423):c.3300C>T (p.Cys1100=) rs147816446 0.00073
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr) rs10011440 0.00073
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_033064.5(ATCAY):c.615C>A (p.Pro205=) rs112563476 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_032856.5(WDR73):c.883+8C>T rs200133030 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) rs200158932 0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_016373.4(WWOX):c.605+9T>A rs368853054 0.00069
NM_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144 0.00068
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys) rs149056587 0.00067
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys) rs41273880 0.00066
NM_182961.4(SYNE1):c.*95C>T rs139397787 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_001376.5(DYNC1H1):c.*194C>T rs566606862 0.00064
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_001379286.1(ZNF423):c.2847G>A (p.Ser949=) rs147447763 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_015160.3(PMPCA):c.633+17G>A rs142661443 0.00062
NM_001130823.3(DNMT1):c.4656+9G>A rs367724672 0.00061
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=) rs144904215 0.00061
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191 0.00061
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His) rs199744696 0.00060
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_182961.4(SYNE1):c.5421+9G>T rs376218204 0.00060
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024 0.00059
NM_016464.5(TMEM138):c.461G>A (p.Arg154His) rs147966742 0.00059
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105 0.00058
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His) rs201030692 0.00057
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_016464.5(TMEM138):c.102T>A (p.Thr34=) rs139387935 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802 0.00056
NM_182961.4(SYNE1):c.26001+8A>C rs145939118 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_016373.4(WWOX):c.957C>T (p.Asn319=) rs144417100 0.00054
NM_182961.4(SYNE1):c.3395+17C>T rs183904423 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_018319.4(TDP1):c.*1430G>C rs34513682 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_001382391.1(CSPP1):c.3157-15A>G rs199558831 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015215.4(CAMTA1):c.3471G>A (p.Val1157=) rs151130353 0.00051
NM_016373.4(WWOX):c.60G>C (p.Pro20=) rs376165565 0.00051
NM_018718.3(CEP41):c.*2481T>A rs528289176 0.00051
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_182961.4(SYNE1):c.4461+15C>T rs757969745 0.00049
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=) rs374601841 0.00048
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_018718.3(CEP41):c.*2896G>A rs147207980 0.00048
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_016373.4(WWOX):c.517-12C>T rs373188700 0.00047
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) rs41300574 0.00047
NM_018718.3(CEP41):c.*1534T>C rs149912245 0.00047
NM_018718.3(CEP41):c.*1567A>C rs139085191 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855 0.00046
NM_015215.4(CAMTA1):c.2120C>G (p.Ser707Cys) rs141259598 0.00046
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr) rs919333754 0.00046
NM_016373.4(WWOX):c.1203C>T (p.Ser401=) rs201428060 0.00046
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950 0.00046
NM_182961.4(SYNE1):c.7713-12C>T rs550804556 0.00046
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_000051.4(ATM):c.*2224C>T rs139245552 0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014363.6(SACS):c.3637T>C (p.Leu1213=) rs577638741 0.00043
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_000051.4(ATM):c.8418+13C>T rs372552946 0.00041
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097 0.00041
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00041
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_001379286.1(ZNF423):c.100+8C>T rs148101280 0.00041
NM_001379286.1(ZNF423):c.3516+14A>G rs201606291 0.00041
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys) rs149276791 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_182961.4(SYNE1):c.10146-19C>G rs372218555 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_000051.4(ATM):c.4109+54A>T rs181020146 0.00040
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) rs370003497 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00040
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro) rs150918808 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys) rs36049457 0.00039
NM_016373.4(WWOX):c.173-11T>C rs370729028 0.00039
NM_033064.4(ATCAY):c.-398C>A rs186140929 0.00039
NM_033064.5(ATCAY):c.545-8C>T rs370662253 0.00039
NM_033064.5(ATCAY):c.866+7C>T rs140799527 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) rs148428571 0.00038
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285 0.00038
NM_015046.7(SETX):c.638C>T (p.Ser213Phe) rs1254442456 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=) rs201662235 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_182961.4(SYNE1):c.9807+14C>G rs182453040 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_001379286.1(ZNF423):c.100+10C>T rs374060172 0.00037
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_198994.3(TGM6):c.622G>A (p.Val208Met) rs61743614 0.00037
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_018319.4(TDP1):c.1366+10G>A rs200295380 0.00036
NM_173500.4(TTBK2):c.-51C>T rs374364415 0.00036
NM_182961.4(SYNE1):c.18973-18G>T rs146316647 0.00036
NM_182961.4(SYNE1):c.309+14A>G rs368595280 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.8010+185_8010+186del rs984385407 0.00035
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) rs199584370 0.00035
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) rs201235386 0.00035
NM_001379286.1(ZNF423):c.2400C>T (p.Thr800=) rs151102991 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 0.00034
NM_001127222.2(CACNA1A):c.1199-17G>C rs190836274 0.00034
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744 0.00034
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873 0.00034
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_173500.4(TTBK2):c.*185A>G rs376104201 0.00034
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837 0.00034
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser) rs200674917 0.00034
NM_001044385.3(TMEM237):c.554-10G>A rs371503069 0.00033
NM_001329943.3(KIAA0586):c.2554-9C>T rs202018500 0.00033
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_004115.4(FGF14):c.123C>T (p.Asn41=) rs372705140 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00033
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001379286.1(ZNF423):c.1113C>T (p.Ser371=) rs149688169 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_000051.4(ATM):c.4612-32_4612-30del rs113149503 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00031
NM_001134831.2(AHI1):c.3329-7A>G rs370808684 0.00031
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001329943.3(KIAA0586):c.3304+12A>G rs370645135 0.00031
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_016169.4(SUFU):c.198C>T (p.Asp66=) rs189500468 0.00031
NM_033064.5(ATCAY):c.426G>A (p.Thr142=) rs373080859 0.00031
NM_182961.4(SYNE1):c.12609G>A (p.Glu4203=) rs186937478 0.00031
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met) rs200825287 0.00031
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884 0.00030
NM_001379286.1(ZNF423):c.2541C>T (p.Asn847=) rs146659313 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753 0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669 0.00029
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=) rs139175231 0.00029
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_001379286.1(ZNF423):c.3165G>A (p.Ala1055=) rs146700251 0.00029
NM_001379286.1(ZNF423):c.3420C>T (p.Ala1140=) rs138555234 0.00029
NM_004115.4(FGF14):c.384T>C (p.Asn128=) rs41281646 0.00029
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_016169.4(SUFU):c.318-17C>A rs201198734 0.00029
NM_016373.4(WWOX):c.1142G>A (p.Arg381His) rs202002431 0.00029
NM_016373.4(WWOX):c.552C>T (p.Leu184=) rs199715254 0.00029
NM_018718.3(CEP41):c.423-18C>A rs371925259 0.00029
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_182961.4(SYNE1):c.7122G>A (p.Glu2374=) rs141883657 0.00029
NM_198994.3(TGM6):c.277A>G (p.Met93Val) rs146529216 0.00029
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser) rs778523009 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392 0.00028
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001329943.3(KIAA0586):c.1254-13T>C rs368443727 0.00027
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=) rs147087785 0.00027
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729 0.00027
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_001044385.3(TMEM237):c.944-16T>C rs369720243 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001376.5(DYNC1H1):c.-13C>G rs537857759 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_001382391.1(CSPP1):c.1094-11C>T rs753835152 0.00026
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=) rs151204426 0.00026
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 0.00026
NM_003640.5(ELP1):c.3855+19G>A rs113767921 0.00026
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_018718.3(CEP41):c.*392G>A rs528501184 0.00026
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=) rs148486281 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_001382391.1(CSPP1):c.1497-13T>C rs193022291 0.00025
NM_015046.7(SETX):c.6208+17G>A rs182144319 0.00025
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr) rs139190745 0.00025
NM_000051.4(ATM):c.2251-19T>C rs370713089 0.00024
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761 0.00024
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00024
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737 0.00024
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=) rs199962946 0.00024
NM_002739.5(PRKCG):c.1281+9G>C rs370400523 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp) rs200125366 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His) rs80265744 0.00024
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486 0.00024
NM_182961.4(SYNE1):c.8550C>T (p.His2850=) rs140565986 0.00024
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_001379286.1(ZNF423):c.1848C>T (p.Ser616=) rs376218086 0.00023
NM_001382391.1(CSPP1):c.2539-5T>C rs555281942 0.00023
NM_004977.3(KCNC3):c.1884G>A (p.Ala628=) rs552133569 0.00023
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_016464.5(TMEM138):c.128+7G>T rs560650147 0.00023
NM_182961.4(SYNE1):c.24977-1705G>A rs375931512 0.00023
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500 0.00023
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00023
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_001329943.3(KIAA0586):c.*2C>T rs376691503 0.00022
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458 0.00022
NM_182961.4(SYNE1):c.1351-14A>T rs767941331 0.00022
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_182961.4(SYNE1):c.6230+17C>T rs200580133 0.00022
NM_182961.4(SYNE1):c.8433C>T (p.Asp2811=) rs375466040 0.00022
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00021
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684 0.00021
NM_001329943.3(KIAA0586):c.660C>T (p.His220=) rs555609562 0.00021
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135 0.00021
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_002222.6(ITPR1):c.*1611G>A rs565800630 0.00021
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp) rs116236420 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015046.7(SETX):c.1392A>G (p.Ser464=) rs144164119 0.00021
NM_015046.7(SETX):c.900T>C (p.Leu300=) rs147938250 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.12006T>G (p.Leu4002=) rs143529882 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_003383.5(VLDLR):c.738C>T (p.Cys246=) rs116687040 0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001077418.3(TMEM231):c.140-15C>T rs201518524 0.00019
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00019
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=) rs760162925 0.00019
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=) rs767722181 0.00019
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_015046.7(SETX):c.1464C>T (p.Ala488=) rs139275155 0.00019
NM_015046.7(SETX):c.3297T>C (p.Asp1099=) rs777404209 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00019
NM_015215.4(CAMTA1):c.1326C>T (p.Phe442=) rs141193119 0.00019
NM_016169.4(SUFU):c.*2140G>T rs543282016 0.00019
NM_016373.4(WWOX):c.723G>A (p.Gln241=) rs191029309 0.00019
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp) rs183200579 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104 0.00019
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745 0.00019
NM_182961.4(SYNE1):c.7238-11T>C rs200802315 0.00019
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=) rs139079964 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_016169.4(SUFU):c.1308C>T (p.Thr436=) rs142029957 0.00018
NM_016373.4(WWOX):c.1179G>A (p.Thr393=) rs376293017 0.00018
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=) rs2296253 0.00018
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310 0.00018
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723 0.00018
NM_000051.4(ATM):c.*2563C>T rs146547907 0.00017
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) rs368904420 0.00017
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) rs531527716 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser) rs143807689 0.00017
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) rs377739292 0.00017
NM_182961.4(SYNE1):c.1463+9A>G rs368846118 0.00017
NM_182961.4(SYNE1):c.16084-14G>A rs372051077 0.00017
NM_182961.4(SYNE1):c.17020-20C>T rs558291255 0.00017
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427 0.00017
NM_182961.4(SYNE1):c.7713-4T>C rs571742202 0.00017
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_001044385.3(TMEM237):c.79+8del rs759786234 0.00016
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00016
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=) rs370408761 0.00016
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) rs190089844 0.00016
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=) rs780038095 0.00016
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_001378969.1(KCND3):c.1106+10C>T rs377267051 0.00016
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_003640.5(ELP1):c.3477C>T (p.His1159=) rs141257064 0.00016
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=) rs201752194 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_016169.4(SUFU):c.255C>T (p.Pro85=) rs113671745 0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198 0.00016
NM_182961.4(SYNE1):c.24861C>T (p.His8287=) rs202207154 0.00016
NM_182961.4(SYNE1):c.5724C>T (p.Asp1908=) rs375222186 0.00016
NM_182961.4(SYNE1):c.9807+15G>A rs371593819 0.00016
NM_198994.3(TGM6):c.-42C>T rs376489998 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_001134831.2(AHI1):c.3588+15A>T rs370223538 0.00015
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu) rs747245461 0.00015
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) rs771703569 0.00015
NM_001379286.1(ZNF423):c.1561G>A (p.Gly521Ser) rs201929999 0.00015
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015046.7(SETX):c.7288-19C>T rs368143983 0.00015
NM_182961.4(SYNE1):c.19573-12G>C rs200455883 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_182961.4(SYNE1):c.9927G>A (p.Pro3309=) rs140830584 0.00015
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.7629+146A>G rs769608929 0.00014
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=) rs373201020 0.00014
NM_001329943.3(KIAA0586):c.3528-12T>G rs553895000 0.00014
NM_001329943.3(KIAA0586):c.4495+3790C>T rs757410007 0.00014
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_001378969.1(KCND3):c.696G>A (p.Ala232=) rs370453605 0.00014
NM_001379286.1(ZNF423):c.615C>T (p.His205=) rs369646082 0.00014
NM_006796.2(AFG3L2):c.-206C>A rs564906201 0.00014
NM_006796.2(AFG3L2):c.-207T>A rs533486310 0.00014
NM_014363.6(SACS):c.*677C>T rs200375761 0.00014
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr) rs150615169 0.00014
NM_015046.7(SETX):c.390C>T (p.Asn130=) rs138363625 0.00014
NM_015215.4(CAMTA1):c.806-11G>A rs200922493 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_018718.3(CEP41):c.757+12G>T rs377656524 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=) rs375707429 0.00014
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00014
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_182961.4(SYNE1):c.3498C>T (p.Ala1166=) rs144235226 0.00014
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=) rs369587906 0.00014
NM_182961.4(SYNE1):c.7029+15A>G rs757201043 0.00014
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val) rs763414737 0.00013
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) rs121434349 0.00013
NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro) rs748793270 0.00013
NM_001173990.2(TMEM216):c.-135T>C rs183785901 0.00013
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=) rs527907908 0.00013
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_001378452.1(ITPR1):c.6180+11T>A rs772860677 0.00013
NM_001382391.1(CSPP1):c.1245+15dup rs766672873 0.00013
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) rs201142840 0.00013
NM_002739.5(PRKCG):c.822-14C>T rs367639661 0.00013
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640 0.00013
NM_015046.7(SETX):c.3555G>A (p.Gln1185=) rs762171056 0.00013
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_015215.4(CAMTA1):c.2190C>T (p.Ala730=) rs191079752 0.00013
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=) rs372285648 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=) rs375826346 0.00013
NM_000051.4(ATM):c.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001329943.3(KIAA0586):c.411-1476T>G rs768486087 0.00012
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val) rs199663609 0.00012
NM_001379286.1(ZNF423):c.1140C>T (p.Pro380=) rs370201380 0.00012
NM_001382391.1(CSPP1):c.1995C>T (p.His665=) rs746724587 0.00012
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=) rs369933035 0.00012
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=) rs372836006 0.00012
NM_001386140.1(MTTP):c.*468A>C rs556582995 0.00012
NM_003640.5(ELP1):c.2205-7C>T rs148221146 0.00012
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.4998A>G (p.Thr1666=) rs184994682 0.00012
NM_015046.7(SETX):c.7990C>T (p.Leu2664=) rs200826214 0.00012
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_016169.4(SUFU):c.1297-13T>C rs557592503 0.00012
NM_016464.5(TMEM138):c.414C>T (p.Ala138=) rs151094420 0.00012
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_182961.4(SYNE1):c.14055G>A (p.Gln4685=) rs370890411 0.00012
NM_182961.4(SYNE1):c.15816G>T (p.Arg5272=) rs762050069 0.00012
NM_182961.4(SYNE1):c.1632+11C>T rs371323621 0.00012
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) rs138509817 0.00012
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00012
NM_182961.4(SYNE1):c.21523-18G>T rs191367384 0.00012
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267 0.00012
NM_182961.4(SYNE1):c.4008+15T>C rs368542446 0.00012
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=) rs369940136 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.8154C>T (p.Gly2718=) rs371021126 0.00011
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00011
NM_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=) rs780091990 0.00011
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853 0.00011
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762 0.00011
NM_001378452.1(ITPR1):c.1886+14G>A rs370584403 0.00011
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_001379286.1(ZNF423):c.1275G>A (p.Arg425=) rs749841254 0.00011
NM_001379286.1(ZNF423):c.1893C>T (p.Ser631=) rs151294188 0.00011
NM_001379286.1(ZNF423):c.2106C>T (p.Cys702=) rs760404444 0.00011
NM_001379286.1(ZNF423):c.3099C>T (p.Cys1033=) rs772683449 0.00011
NM_001379286.1(ZNF423):c.492C>T (p.His164=) rs550048605 0.00011
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=) rs548142175 0.00011
NM_014053.4(FLVCR1):c.*2887C>T rs186854246 0.00011
NM_014053.4(FLVCR1):c.1525+12C>T rs372644357 0.00011
NM_014363.6(SACS):c.12451C>T (p.Leu4151=) rs780701057 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513 0.00011
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp) rs775112319 0.00011
NM_015046.7(SETX):c.5941C>T (p.Leu1981=) rs373324070 0.00011
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919 0.00011
NM_016373.4(WWOX):c.420C>T (p.Thr140=) rs374644172 0.00011
NM_016373.4(WWOX):c.786C>T (p.Ser262=) rs376709568 0.00011
NM_016464.5(TMEM138):c.465G>A (p.Lys155=) rs141851191 0.00011
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp) rs146668840 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00011
NM_033064.5(ATCAY):c.*3376C>T rs76339349 0.00011
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val) rs199668467 0.00011
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902 0.00011
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920 0.00011
NM_182961.4(SYNE1):c.17203-6T>C rs1589744380 0.00011
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194 0.00011
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=) rs377302991 0.00011
NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=) rs373129942 0.00011
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070 0.00011
NM_182961.4(SYNE1):c.8005-3C>T rs117084693 0.00011
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132 0.00011
NM_182961.4(SYNE1):c.9009+14C>T rs370240234 0.00011
NM_182961.4(SYNE1):c.9696G>A (p.Arg3232=) rs377001681 0.00011
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=) rs776394371 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.6572+11C>T rs368049107 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000051.4(ATM):c.7789-15G>C rs781449587 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) rs549032526 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=) rs139909192 0.00010
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=) rs371944986 0.00010
NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) rs141491316 0.00010
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272 0.00010
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001379286.1(ZNF423):c.321A>G (p.Gln107=) rs376572236 0.00010
NM_001379286.1(ZNF423):c.642C>T (p.Ser214=) rs576666121 0.00010
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=) rs374820674 0.00010
NM_002739.5(PRKCG):c.*84C>A rs995740073 0.00010
NM_014363.6(SACS):c.1464G>A (p.Pro488=) rs375352514 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015046.7(SETX):c.7926G>A (p.Glu2642=) rs147986724 0.00010
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_016373.4(WWOX):c.1170C>T (p.Ser390=) rs372635911 0.00010
NM_022464.5(SIL1):c.1326C>T (p.Asp442=) rs375567857 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_024411.5(PDYN):c.483C>G (p.Leu161=) rs773513924 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_032856.5(WDR73):c.33C>T (p.Ser11=) rs376620550 0.00010
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967 0.00010
NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=) rs375949615 0.00010
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449 0.00010
NM_182961.4(SYNE1):c.14956-14T>C rs368344443 0.00010
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=) rs143416387 0.00010
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=) rs148994723 0.00010
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217 0.00010
NM_182961.4(SYNE1):c.1729+14C>T rs76417048 0.00010
NM_182961.4(SYNE1):c.20068-15A>C rs368904376 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.23791-7C>T rs375558499 0.00010
NM_182961.4(SYNE1):c.7767C>T (p.His2589=) rs149165706 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=) rs184006845 0.00010
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00010
NM_000051.4(ATM):c.1911A>G (p.Gln637=) rs764790965 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4237-71A>G rs45547832 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=) rs1426398337 0.00009
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001329943.3(KIAA0586):c.3859-17C>T rs764917881 0.00009
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu) rs750833160 0.00009
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814 0.00009
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=) rs550354835 0.00009
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834 0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) rs150934088 0.00009
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=) rs760817061 0.00009
NM_001378969.1(KCND3):c.1766+3G>A rs748524463 0.00009
NM_001378969.1(KCND3):c.207G>A (p.Thr69=) rs751347311 0.00009
NM_001379286.1(ZNF423):c.3654G>A (p.Pro1218=) rs376719006 0.00009
NM_001379286.1(ZNF423):c.519G>A (p.Pro173=) rs374152933 0.00009
NM_001382391.1(CSPP1):c.1697+19G>T rs563103826 0.00009
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu) rs755021253 0.00009
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys) rs763639767 0.00009
NM_001382391.1(CSPP1):c.3330+18C>A rs372999075 0.00009
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val) rs188917565 0.00009
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr) rs145635985 0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_003640.5(ELP1):c.1644-13T>C rs557540663 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372 0.00009
NM_015046.7(SETX):c.1065C>T (p.Ile355=) rs376107422 0.00009
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_015046.7(SETX):c.7770C>T (p.Pro2590=) rs532828022 0.00009
NM_015046.7(SETX):c.78G>A (p.Pro26=) rs139972421 0.00009
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_016169.4(SUFU):c.1272C>T (p.Tyr424=) rs771084342 0.00009
NM_016169.4(SUFU):c.183-20_183-19del rs763795960 0.00009
NM_016169.4(SUFU):c.879C>T (p.Ile293=) rs370516021 0.00009
NM_016464.5(TMEM138):c.129-4A>G rs372877379 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022464.5(SIL1):c.993C>T (p.Arg331=) rs201009798 0.00009
NM_024411.5(PDYN):c.*33A>C rs556095353 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys) rs144236612 0.00009
NM_182961.4(SYNE1):c.130-17C>T rs569421654 0.00009
NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser) rs199827801 0.00009
NM_182961.4(SYNE1):c.13917C>T (p.Ser4639=) rs753598358 0.00009
NM_182961.4(SYNE1):c.14955+8T>C rs563400584 0.00009
NM_182961.4(SYNE1):c.15294-17T>C rs116949486 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.19527A>G (p.Gln6509=) rs377427003 0.00009
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=) rs201221147 0.00009
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=) rs148606479 0.00009
NM_182961.4(SYNE1):c.21951C>T (p.Ser7317=) rs368864479 0.00009
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=) rs201537074 0.00009
NM_182961.4(SYNE1):c.22495-10T>A rs528364885 0.00009
NM_182961.4(SYNE1):c.24129+8A>G rs377056257 0.00009
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=) rs749509412 0.00009
NM_182961.4(SYNE1):c.24977-5C>T rs767722883 0.00009
NM_182961.4(SYNE1):c.25092G>A (p.Pro8364=) rs374755363 0.00009
NM_182961.4(SYNE1):c.4789-14C>T rs769876215 0.00009
NM_182961.4(SYNE1):c.5101-11G>T rs375142982 0.00009
NM_182961.4(SYNE1):c.6093C>T (p.His2031=) rs150072383 0.00009
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546 0.00009
NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His) rs200658991 0.00009
NM_000051.4(ATM):c.3284+16T>G rs376541962 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_001044385.3(TMEM237):c.275-9T>C rs749658028 0.00008
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00008
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=) rs190675549 0.00008
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=) rs368984896 0.00008
NM_001329943.3(KIAA0586):c.962-14A>T rs200528557 0.00008
NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=) rs761266231 0.00008
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706 0.00008
NM_001379286.1(ZNF423):c.100+11G>A rs547602124 0.00008
NM_001379286.1(ZNF423):c.2244G>A (p.Ala748=) rs186112147 0.00008
NM_001379286.1(ZNF423):c.2331C>G (p.Val777=) rs769322435 0.00008
NM_001379286.1(ZNF423):c.2517T>C (p.Cys839=) rs761360598 0.00008
NM_001379286.1(ZNF423):c.2649C>T (p.Ser883=) rs781131703 0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_002739.5(PRKCG):c.940-3C>T rs377593245 0.00008
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.2865T>C (p.Asp955=) rs368932478 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=) rs201347313 0.00008
NM_182961.4(SYNE1):c.15505C>T (p.Leu5169=) rs372205287 0.00008
NM_182961.4(SYNE1):c.17499G>C (p.Gly5833=) rs754642929 0.00008
NM_182961.4(SYNE1):c.18574-8A>C rs749921940 0.00008
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=) rs780644969 0.00008
NM_182961.4(SYNE1):c.23019+8C>A rs760060099 0.00008
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=) rs776288515 0.00008
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510 0.00008
NM_182961.4(SYNE1):c.6102A>G (p.Glu2034=) rs752482336 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu) rs563736306 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_001127222.2(CACNA1A):c.6527-16C>T rs752985059 0.00007
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) rs377704053 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=) rs199623501 0.00007
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=) rs534407882 0.00007
NM_001329943.3(KIAA0586):c.962-15A>C rs767414174 0.00007
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128 0.00007
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser) rs369108656 0.00007
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His) rs200212002 0.00007
NM_001379286.1(ZNF423):c.1368C>T (p.Asp456=) rs146274919 0.00007
NM_001379286.1(ZNF423):c.2058G>A (p.Leu686=) rs201624375 0.00007
NM_001379286.1(ZNF423):c.3117C>A (p.Ser1039=) rs748563808 0.00007
NM_001379286.1(ZNF423):c.3618C>T (p.His1206=) rs137880959 0.00007
NM_001379286.1(ZNF423):c.363G>A (p.Ala121=) rs369376307 0.00007
NM_001379286.1(ZNF423):c.3720C>T (p.Pro1240=) rs200322057 0.00007
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=) rs539302524 0.00007
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 0.00007
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.4353A>G (p.Val1451=) rs771367273 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_016169.4(SUFU):c.1023-20T>C rs373445321 0.00007
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=) rs372703745 0.00007
NM_016373.4(WWOX):c.951G>A (p.Thr317=) rs759801417 0.00007
NM_018718.3(CEP41):c.*1336A>G rs781954428 0.00007
NM_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile) rs138238924 0.00007
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_182961.4(SYNE1):c.12399A>G (p.Glu4133=) rs368597714 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476 0.00007
NM_182961.4(SYNE1):c.1632+12G>T rs765558597 0.00007
NM_182961.4(SYNE1):c.17347-6C>T rs201692248 0.00007
NM_182961.4(SYNE1):c.17841A>G (p.Leu5947=) rs143490673 0.00007
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=) rs942245024 0.00007
NM_182961.4(SYNE1):c.21061T>C (p.Leu7021=) rs202172980 0.00007
NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=) rs376651419 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427 0.00007
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=) rs375111758 0.00007
NM_182961.4(SYNE1):c.2569-7G>A rs372744173 0.00007
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=) rs1014746277 0.00007
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_182961.4(SYNE1):c.6231-8C>T rs777108375 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.1887C>T (p.Ser629=) rs143097772 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.3639T>C (p.His1213=) rs142766756 0.00006
NM_000051.4(ATM):c.3993+18A>G rs201171518 0.00006
NM_000051.4(ATM):c.4449C>T (p.Ile1483=) rs786203726 0.00006
NM_000051.4(ATM):c.5005+17C>G rs200688912 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.6096-14A>G rs184029731 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.6486C>T (p.Ser2162=) rs138166710 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000051.4(ATM):c.7602C>T (p.Gly2534=) rs562264493 0.00006
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) rs200753815 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) rs201500822 0.00006
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989 0.00006
NM_001044385.3(TMEM237):c.74+15C>T rs375401635 0.00006
NM_001044385.3(TMEM237):c.79+15T>C rs182250754 0.00006
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00006
NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln) rs780823419 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=) rs371990780 0.00006
NM_001329943.3(KIAA0586):c.2060-17A>T rs753287970 0.00006
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=) rs755369049 0.00006
NM_001329943.3(KIAA0586):c.411-1365C>T rs905321611 0.00006
NM_001329943.3(KIAA0586):c.4496-3801G>A rs575409268 0.00006
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=) rs370332963 0.00006
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=) rs552791846 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) rs774713377 0.00006
NM_001378969.1(KCND3):c.651G>A (p.Pro217=) rs186974111 0.00006
NM_001379286.1(ZNF423):c.1224C>T (p.Asp408=) rs372206769 0.00006
NM_001379286.1(ZNF423):c.2211C>T (p.Phe737=) rs138278000 0.00006
NM_001379286.1(ZNF423):c.2283G>A (p.Thr761=) rs758301410 0.00006
NM_001379286.1(ZNF423):c.2640T>C (p.His880=) rs200880737 0.00006
NM_001379286.1(ZNF423):c.2877G>A (p.Thr959=) rs201950383 0.00006
NM_001379286.1(ZNF423):c.3378C>T (p.Ala1126=) rs148173134 0.00006
NM_001379286.1(ZNF423):c.3690C>T (p.Phe1230=) rs371710780 0.00006
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=) rs370123119 0.00006
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=) rs368660068 0.00006
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=) rs139181972 0.00006
NM_006796.3(AFG3L2):c.1426+9A>T rs377339236 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.4743C>T (p.Phe1581=) rs143310473 0.00006
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_015046.7(SETX):c.1497G>A (p.Ala499=) rs142936332 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe) rs370551247 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.2994C>T (p.Phe998=) rs534579992 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg) rs202204341 0.00006
NM_015046.7(SETX):c.5274+8T>C rs369501754 0.00006
NM_015046.7(SETX):c.5616C>T (p.Asn1872=) rs201472554 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_016169.4(SUFU):c.1113G>A (p.Leu371=) rs745349651 0.00006
NM_016169.4(SUFU):c.757-20C>T rs370544916 0.00006
NM_016169.4(SUFU):c.911-7G>A rs558661774 0.00006
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp) rs148160011 0.00006
NM_016373.4(WWOX):c.840C>G (p.Leu280=) rs772356641 0.00006
NM_016464.5(TMEM138):c.81C>T (p.Phe27=) rs149327827 0.00006
NM_018718.3(CEP41):c.1032C>T (p.Ser344=) rs189895981 0.00006
NM_018718.3(CEP41):c.957G>A (p.Gly319=) rs367931878 0.00006
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) rs567558964 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_032856.5(WDR73):c.267A>G (p.Leu89=) rs772299478 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_173500.4(TTBK2):c.*33A>C rs149561490 0.00006
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.10300-6C>T rs762645232 0.00006
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=) rs377049622 0.00006
NM_182961.4(SYNE1):c.10935C>T (p.His3645=) rs201704617 0.00006
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=) rs373438870 0.00006
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=) rs767294195 0.00006
NM_182961.4(SYNE1):c.18783A>G (p.Gln6261=) rs774395991 0.00006
NM_182961.4(SYNE1):c.19693-15G>A rs187885923 0.00006
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256 0.00006
NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=) rs375649094 0.00006
NM_182961.4(SYNE1):c.21657-20G>C rs369177487 0.00006
NM_182961.4(SYNE1):c.22589+18T>C rs200821668 0.00006
NM_182961.4(SYNE1):c.22590-17A>G rs756803477 0.00006
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=) rs140577642 0.00006
NM_182961.4(SYNE1):c.23874C>T (p.Asp7958=) rs749141262 0.00006
NM_182961.4(SYNE1):c.2893-14C>T rs914254176 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.336C>T (p.Thr112=) rs149008539 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.4053A>T (p.Thr1351=) rs966425412 0.00006
NM_182961.4(SYNE1):c.4749T>A (p.Ser1583=) rs201761581 0.00006
NM_182961.4(SYNE1):c.581+7A>G rs367617527 0.00006
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765 0.00006
NM_182961.4(SYNE1):c.6603T>C (p.Asp2201=) rs199965276 0.00006
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00006
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773 0.00006
NM_182961.4(SYNE1):c.8488-15T>G rs754541640 0.00006
NM_182961.4(SYNE1):c.8652+14C>T rs761672973 0.00006
NM_182961.4(SYNE1):c.9738C>T (p.Ala3246=) rs140123292 0.00006
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.2967T>C (p.Thr989=) rs144145128 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4437-14T>C rs900984301 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.5675-13T>A rs373219694 0.00005
NM_000051.4(ATM):c.6573-16A>G rs764506673 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 0.00005
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=) rs373428306 0.00005
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=) rs150091721 0.00005
NM_000784.4(CYP27A1):c.447-11C>T rs746577389 0.00005
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn) rs751280804 0.00005
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) rs375163463 0.00005
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=) rs780332239 0.00005
NM_001044385.3(TMEM237):c.137-14C>G rs760624801 0.00005
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00005
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001329943.3(KIAA0586):c.411-1495T>C rs1364313825 0.00005
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=) rs200906427 0.00005
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=) rs538659713 0.00005
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=) rs762154780 0.00005
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=) rs545754582 0.00005
NM_001379286.1(ZNF423):c.1176G>A (p.Pro392=) rs748728165 0.00005
NM_001379286.1(ZNF423):c.1323C>T (p.His441=) rs777932033 0.00005
NM_001379286.1(ZNF423):c.1401C>T (p.His467=) rs370346450 0.00005
NM_001379286.1(ZNF423):c.1845G>A (p.Ser615=) rs61755181 0.00005
NM_001379286.1(ZNF423):c.2442G>A (p.Lys814=) rs199874154 0.00005
NM_001379286.1(ZNF423):c.2475C>T (p.His825=) rs201076539 0.00005
NM_001379286.1(ZNF423):c.2703G>A (p.Ala901=) rs140000430 0.00005
NM_001379286.1(ZNF423):c.2949C>T (p.Thr983=) rs748840936 0.00005
NM_001379286.1(ZNF423):c.3021C>T (p.Ser1007=) rs199536152 0.00005
NM_001379286.1(ZNF423):c.3543C>T (p.Cys1181=) rs373620289 0.00005
NM_001382391.1(CSPP1):c.3157-7C>T rs750714624 0.00005
NM_002739.5(PRKCG):c.441C>T (p.Pro147=) rs764546467 0.00005
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245 0.00005
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) rs184739734 0.00005
NM_004115.4(FGF14):c.261C>T (p.Pro87=) rs757210660 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_014363.6(SACS):c.10980C>T (p.Pro3660=) rs141353693 0.00005
NM_014363.6(SACS):c.1152T>G (p.Thr384=) rs185643322 0.00005
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574 0.00005
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) rs375241191 0.00005
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180 0.00005
NM_015046.7(SETX):c.7164G>C (p.Thr2388=) rs368602563 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015046.7(SETX):c.807G>A (p.Ser269=) rs147677608 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_016169.4(SUFU):c.1059G>A (p.Thr353=) rs780683814 0.00005
NM_016373.4(WWOX):c.1077C>T (p.Thr359=) rs150912992 0.00005
NM_016373.4(WWOX):c.231-9T>C rs766689304 0.00005
NM_016373.4(WWOX):c.315A>G (p.Gln105=) rs752822745 0.00005
NM_016373.4(WWOX):c.324C>T (p.Asp108=) rs377442022 0.00005
NM_016373.4(WWOX):c.630C>T (p.Asn210=) rs547619401 0.00005
NM_016373.4(WWOX):c.867G>A (p.Ala289=) rs755002954 0.00005
NM_018718.3(CEP41):c.146-11A>G rs781817949 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=) rs747135135 0.00005
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_033064.5(ATCAY):c.*309C>T rs541933098 0.00005
NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=) rs201861233 0.00005
NM_182961.4(SYNE1):c.1048-4T>C rs894164368 0.00005
NM_182961.4(SYNE1):c.12794+19T>C rs770394935 0.00005
NM_182961.4(SYNE1):c.15917+10C>T rs1434685633 0.00005
NM_182961.4(SYNE1):c.16572+11C>T rs181304168 0.00005
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787 0.00005
NM_182961.4(SYNE1):c.21862-5T>C rs773382528 0.00005
NM_182961.4(SYNE1):c.23664G>A (p.Gln7888=) rs375008462 0.00005
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258 0.00005
NM_182961.4(SYNE1):c.25459-7T>G rs367972414 0.00005
NM_182961.4(SYNE1):c.310-459A>G rs371580053 0.00005
NM_182961.4(SYNE1):c.3303T>C (p.Cys1101=) rs369863768 0.00005
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=) rs372832470 0.00005
NM_182961.4(SYNE1):c.6129G>A (p.Lys2043=) rs1401669271 0.00005
NM_182961.4(SYNE1):c.6231-12T>C rs370687503 0.00005
NM_182961.4(SYNE1):c.8946G>A (p.Gln2982=) rs769033712 0.00005
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.1608-19G>T rs773158102 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2124+13A>T rs199648955 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.2958T>G (p.Val986=) rs745971584 0.00004
NM_000051.4(ATM):c.3012C>T (p.Ser1004=) rs751260996 0.00004
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=) rs780240314 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.3777G>A (p.Leu1259=) rs780192529 0.00004
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.510G>A (p.Val170=) rs375682557 0.00004
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000051.4(ATM):c.5868C>T (p.Leu1956=) rs540054724 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.7779G>A (p.Gln2593=) rs770321620 0.00004
NM_000051.4(ATM):c.7890A>G (p.Leu2630=) rs756181210 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000051.4(ATM):c.8786+20G>C rs56283878 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1185-15T>C rs117727806 0.00004
NM_000784.4(CYP27A1):c.1477-10T>C rs372756101 0.00004
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935 0.00004
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891 0.00004
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) rs750652986 0.00004
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=) rs921885901 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu) rs186812403 0.00004
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.43-8C>T rs759325746 0.00004
NM_001044385.3(TMEM237):c.553+9A>T rs568158023 0.00004
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00004
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00004
NM_001134831.2(AHI1):c.3329-20A>G rs1004117268 0.00004
NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=) rs140513521 0.00004
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=) rs750393862 0.00004
NM_001329943.3(KIAA0586):c.1885-11T>C rs1344938086 0.00004
NM_001329943.3(KIAA0586):c.271-11A>G rs752733321 0.00004
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=) rs369590767 0.00004
NM_001329943.3(KIAA0586):c.3528-20A>G rs759897107 0.00004
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=) rs377467641 0.00004
NM_001329943.3(KIAA0586):c.3858+10G>A rs1023641988 0.00004
NM_001329943.3(KIAA0586):c.4430-6dup rs755622220 0.00004
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999 0.00004
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=) rs369143869 0.00004
NM_001329943.3(KIAA0586):c.723T>C (p.His241=) rs373333959 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075 0.00004
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=) rs375547282 0.00004
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=) rs745351516 0.00004
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=) rs533201615 0.00004
NM_001378969.1(KCND3):c.1269+18G>A rs372005674 0.00004
NM_001378969.1(KCND3):c.519C>T (p.Phe173=) rs144600384 0.00004
NM_001378969.1(KCND3):c.618G>A (p.Pro206=) rs200611538 0.00004
NM_001378969.1(KCND3):c.626C>T (p.Thr209Met) rs771878661 0.00004
NM_001379286.1(ZNF423):c.1017G>A (p.Gln339=) rs779613521 0.00004
NM_001379286.1(ZNF423):c.126C>T (p.Cys42=) rs139517505 0.00004
NM_001379286.1(ZNF423):c.1494C>T (p.Ala498=) rs34742420 0.00004
NM_001379286.1(ZNF423):c.1536C>T (p.Cys512=) rs373756871 0.00004
NM_001379286.1(ZNF423):c.2115C>T (p.Cys705=) rs141743740 0.00004
NM_001379286.1(ZNF423):c.2214C>T (p.Asp738=) rs147043161 0.00004
NM_001379286.1(ZNF423):c.222T>C (p.Ile74=) rs143895442 0.00004
NM_001379286.1(ZNF423):c.2385G>A (p.Gly795=) rs189431522 0.00004
NM_001379286.1(ZNF423):c.2658C>T (p.Asp886=) rs149969492 0.00004
NM_001379286.1(ZNF423):c.2664C>T (p.Asp888=) rs376264701 0.00004
NM_001379286.1(ZNF423):c.2670G>A (p.Ser890=) rs369348426 0.00004
NM_001379286.1(ZNF423):c.2853C>T (p.Asn951=) rs369438876 0.00004
NM_001379286.1(ZNF423):c.3327C>T (p.Asn1109=) rs200411543 0.00004
NM_001379286.1(ZNF423):c.3360C>T (p.Pro1120=) rs372366526 0.00004
NM_001379286.1(ZNF423):c.3363C>T (p.Ala1121=) rs374683537 0.00004
NM_001379286.1(ZNF423):c.3468G>A (p.Pro1156=) rs144663962 0.00004
NM_001379286.1(ZNF423):c.3504G>A (p.Ser1168=) rs200335668 0.00004
NM_001379286.1(ZNF423):c.3582C>T (p.His1194=) rs149068296 0.00004
NM_001379286.1(ZNF423):c.3849+17G>A rs780167797 0.00004
NM_001379286.1(ZNF423):c.40+33082T>A rs556089941 0.00004
NM_001379286.1(ZNF423):c.657C>A (p.Ile219=) rs143251911 0.00004
NM_001379286.1(ZNF423):c.912G>A (p.Gln304=) rs147427609 0.00004
NM_001379286.1(ZNF423):c.957C>T (p.Leu319=) rs953150260 0.00004
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=) rs755838311 0.00004
NM_001382391.1(CSPP1):c.1619-4T>C rs774722380 0.00004
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=) rs754822898 0.00004
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=) rs201940935 0.00004
NM_001382391.1(CSPP1):c.2128+16T>G rs770694705 0.00004
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=) rs754377738 0.00004
NM_001382391.1(CSPP1):c.2829-6C>A rs202184488 0.00004
NM_001382391.1(CSPP1):c.3157-16A>G rs374129705 0.00004
NM_001382391.1(CSPP1):c.484-4A>G rs142440392 0.00004
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 0.00004
NM_003640.5(ELP1):c.3932-18T>G rs767184876 0.00004
NM_003640.5(ELP1):c.865-9C>T rs748084965 0.00004
NM_003640.5(ELP1):c.958+20C>T rs370413742 0.00004
NM_004115.4(FGF14):c.*1741T>C rs529644559 0.00004
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472 0.00004
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.9090A>G (p.Leu3030=) rs754628665 0.00004
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly) rs369713918 0.00004
NM_015046.7(SETX):c.1140T>G (p.Pro380=) rs140553290 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly) rs764538703 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala) rs956812554 0.00004
NM_015046.7(SETX):c.3810G>A (p.Pro1270=) rs753022992 0.00004
NM_015046.7(SETX):c.399T>C (p.Cys133=) rs779515782 0.00004
NM_015046.7(SETX):c.4323G>A (p.Gln1441=) rs180992608 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.5814A>G (p.Gln1938=) rs143868969 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6546+10C>T rs571194790 0.00004
NM_015046.7(SETX):c.719-4A>G rs775443601 0.00004
NM_015046.7(SETX):c.7200-15T>C rs754019832 0.00004
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) rs773364996 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.7809C>T (p.Pro2603=) rs766063614 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_015215.4(CAMTA1):c.2223G>A (p.Val741=) rs747383026 0.00004
NM_015272.5(RPGRIP1L):c.1244-18G>A rs923409583 0.00004
NM_015272.5(RPGRIP1L):c.1582-11T>G rs182981308 0.00004
NM_016169.4(SUFU):c.1297-16C>T rs763761235 0.00004
NM_016169.4(SUFU):c.183-17T>C rs767300975 0.00004
NM_016169.4(SUFU):c.537G>A (p.Leu179=) rs139580429 0.00004
NM_016169.4(SUFU):c.777C>T (p.Ile259=) rs749533220 0.00004
NM_016169.4(SUFU):c.855C>T (p.Asp285=) rs200206997 0.00004
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) rs780939546 0.00004
NM_016373.4(WWOX):c.114C>T (p.Thr38=) rs372635270 0.00004
NM_016373.4(WWOX):c.231-11C>G rs372011945 0.00004
NM_016373.4(WWOX):c.321C>T (p.Tyr107=) rs373306276 0.00004
NM_016373.4(WWOX):c.517-10C>G rs199820033 0.00004
NM_016373.4(WWOX):c.605+20G>A rs372217196 0.00004
NM_016373.4(WWOX):c.739T>C (p.Leu247=) rs1195368309 0.00004
NM_016373.4(WWOX):c.798A>C (p.Thr266=) rs377727422 0.00004
NM_016373.4(WWOX):c.855C>T (p.Asn285=) rs767903006 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_018718.3(CEP41):c.213C>T (p.Ile71=) rs370498782 0.00004
NM_018718.3(CEP41):c.277+16G>C rs782272723 0.00004
NM_018718.3(CEP41):c.357G>A (p.Ser119=) rs1179996142 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln) rs201348630 0.00004
NM_182961.4(SYNE1):c.10257T>C (p.His3419=) rs147631683 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.12099C>T (p.His4033=) rs375862387 0.00004
NM_182961.4(SYNE1):c.12436C>T (p.Leu4146=) rs777433973 0.00004
NM_182961.4(SYNE1):c.1428A>G (p.Pro476=) rs778574491 0.00004
NM_182961.4(SYNE1):c.1458C>T (p.Ala486=) rs373091521 0.00004
NM_182961.4(SYNE1):c.14976T>C (p.Tyr4992=) rs935200376 0.00004
NM_182961.4(SYNE1):c.1497C>T (p.His499=) rs758555741 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_182961.4(SYNE1):c.15510G>A (p.Glu5170=) rs763638514 0.00004
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=) rs779112403 0.00004
NM_182961.4(SYNE1):c.1632+6T>C rs758756977 0.00004
NM_182961.4(SYNE1):c.16350G>A (p.Ala5450=) rs768673070 0.00004
NM_182961.4(SYNE1):c.16390-11T>C rs765234446 0.00004
NM_182961.4(SYNE1):c.17322G>T (p.Leu5774=) rs752995421 0.00004
NM_182961.4(SYNE1):c.1737A>G (p.Glu579=) rs199673388 0.00004
NM_182961.4(SYNE1):c.18630C>T (p.Pro6210=) rs1022996215 0.00004
NM_182961.4(SYNE1):c.18815+16C>T rs369215013 0.00004
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=) rs369626489 0.00004
NM_182961.4(SYNE1):c.20169C>T (p.Asp6723=) rs367936675 0.00004
NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=) rs147173664 0.00004
NM_182961.4(SYNE1):c.21285C>T (p.Asp7095=) rs768886911 0.00004
NM_182961.4(SYNE1):c.22044+11C>G rs751070924 0.00004
NM_182961.4(SYNE1):c.22164A>G (p.Thr7388=) rs774480374 0.00004
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=) rs200800604 0.00004
NM_182961.4(SYNE1):c.23589C>T (p.Asn7863=) rs753421656 0.00004
NM_182961.4(SYNE1):c.23742C>T (p.Tyr7914=) rs781192759 0.00004
NM_182961.4(SYNE1):c.24130-7G>T rs368697044 0.00004
NM_182961.4(SYNE1):c.2440T>C (p.Leu814=) rs368201364 0.00004
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=) rs766320378 0.00004
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=) rs369691475 0.00004
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=) rs770690488 0.00004
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=) rs201891399 0.00004
NM_182961.4(SYNE1):c.2893-13C>T rs148337270 0.00004
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=) rs201752079 0.00004
NM_182961.4(SYNE1):c.3435A>T (p.Thr1145=) rs759359527 0.00004
NM_182961.4(SYNE1):c.3525C>T (p.Thr1175=) rs761360867 0.00004
NM_182961.4(SYNE1):c.462C>T (p.Ser154=) rs761939786 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_182961.4(SYNE1):c.6537G>A (p.Leu2179=) rs138725794 0.00004
NM_182961.4(SYNE1):c.7485G>A (p.Glu2495=) rs901474571 0.00004
NM_182961.4(SYNE1):c.7755T>C (p.Ser2585=) rs759690937 0.00004
NM_182961.4(SYNE1):c.780C>T (p.Asp260=) rs376480815 0.00004
NM_182961.4(SYNE1):c.8169C>T (p.His2723=) rs371449580 0.00004
NM_182961.4(SYNE1):c.8653-19T>C rs376539357 0.00004
NM_182961.4(SYNE1):c.9123T>C (p.Ser3041=) rs139593613 0.00004
NM_182961.4(SYNE1):c.9651+19C>T rs543352190 0.00004
NM_182961.4(SYNE1):c.9834C>T (p.Ile3278=) rs142241062 0.00004
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser) rs182249285 0.00004
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1368A>G (p.Leu456=) rs750579940 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 0.00003
NM_000051.4(ATM):c.2013A>T (p.Ile671=) rs1371341017 0.00003
NM_000051.4(ATM):c.2151G>C (p.Arg717=) rs1331738032 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2697C>T (p.Asp899=) rs786202978 0.00003
NM_000051.4(ATM):c.2751C>T (p.Ser917=) rs876659611 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.3373T>C (p.Leu1125=) rs775277598 0.00003
NM_000051.4(ATM):c.3402+10A>C rs919002854 0.00003
NM_000051.4(ATM):c.4008C>T (p.Phe1336=) rs748055132 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=) rs145236132 0.00003
NM_000051.4(ATM):c.496+18T>A rs762171014 0.00003
NM_000051.4(ATM):c.496+20G>C rs751245102 0.00003
NM_000051.4(ATM):c.5005+7T>C rs527286038 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 0.00003
NM_000051.4(ATM):c.6219C>T (p.Leu2073=) rs752478345 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6452+17A>G rs371044809 0.00003
NM_000051.4(ATM):c.6453-15C>A rs763296454 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.6526T>C (p.Leu2176=) rs143715818 0.00003
NM_000051.4(ATM):c.6636C>T (p.Leu2212=) rs876659563 0.00003
NM_000051.4(ATM):c.6678A>G (p.Leu2226=) rs772173373 0.00003
NM_000051.4(ATM):c.6807+20A>G rs369001797 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7191A>G (p.Gln2397=) rs768906734 0.00003
NM_000051.4(ATM):c.7431A>T (p.Gly2477=) rs1158876832 0.00003
NM_000051.4(ATM):c.7516-17del rs1223140309 0.00003
NM_000051.4(ATM):c.7516-19_7516-18insAA rs1361261201 0.00003
NM_000051.4(ATM):c.7927+10T>C rs730881277 0.00003
NM_000051.4(ATM):c.7989T>C (p.Val2663=) rs774232968 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.8152-6C>T rs200389039 0.00003
NM_000051.4(ATM):c.8248T>C (p.Leu2750=) rs876658559 0.00003
NM_000051.4(ATM):c.8419-16_8419-13del rs774275044 0.00003
NM_000051.4(ATM):c.8851-19A>G rs772496794 0.00003
NM_000051.4(ATM):c.8964C>T (p.Asp2988=) rs969795398 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951 0.00003
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=) rs1039198612 0.00003
NM_000784.4(CYP27A1):c.447-10G>A rs756808196 0.00003
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000784.4(CYP27A1):c.647-4T>C rs1943729690 0.00003
NM_000784.4(CYP27A1):c.844+20G>A rs200698553 0.00003
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=) rs202136743 0.00003
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) rs1341913523 0.00003
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=) rs879874108 0.00003
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461 0.00003
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001130823.3(DNMT1):c.4773+11C>T rs777602633 0.00003
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=) rs764412921 0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) rs1016306200 0.00003
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00003
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001329943.3(KIAA0586):c.1656+4T>C rs368165741 0.00003
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=) rs1356132325 0.00003
NM_001329943.3(KIAA0586):c.2944+13G>T rs377092455 0.00003
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=) rs749756433 0.00003
NM_001329943.3(KIAA0586):c.3781+20T>G rs770866188 0.00003
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=) rs768806838 0.00003
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001378452.1(ITPR1):c.4435C>T (p.His1479Tyr) rs943946433 0.00003
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) rs1247179970 0.00003
NM_001378969.1(KCND3):c.1524C>T (p.His508=) rs765916708 0.00003
NM_001378969.1(KCND3):c.339C>T (p.Ala113=) rs371366472 0.00003
NM_001378969.1(KCND3):c.693G>C (p.Thr231=) rs749849320 0.00003
NM_001379286.1(ZNF423):c.1149C>T (p.Ser383=) rs375403632 0.00003
NM_001379286.1(ZNF423):c.1230G>A (p.Gln410=) rs201769739 0.00003
NM_001379286.1(ZNF423):c.2763G>A (p.Pro921=) rs571689478 0.00003
NM_001379286.1(ZNF423):c.3177G>A (p.Ala1059=) rs764307309 0.00003
NM_001379286.1(ZNF423):c.3303C>T (p.Ala1101=) rs201584755 0.00003
NM_001379286.1(ZNF423):c.3561C>T (p.Asn1187=) rs76199401 0.00003
NM_001379286.1(ZNF423):c.3702C>T (p.Gly1234=) rs766215720 0.00003
NM_001379286.1(ZNF423):c.3840C>T (p.Thr1280=) rs779049571 0.00003
NM_001379286.1(ZNF423):c.426G>A (p.Thr142=) rs1040242592 0.00003
NM_001379286.1(ZNF423):c.942C>T (p.Asp314=) rs182494771 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1698-15G>A rs777747860 0.00003
NM_001382391.1(CSPP1):c.2133T>C (p.His711=) rs755593188 0.00003
NM_001382391.1(CSPP1):c.2711-15A>G rs756159198 0.00003
NM_001382391.1(CSPP1):c.3221-14C>T rs202201525 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) rs376215036 0.00003
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=) rs751421159 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) rs768999765 0.00003
NM_014363.6(SACS):c.159C>G (p.Arg53=) rs968138431 0.00003
NM_014363.6(SACS):c.4098G>C (p.Leu1366=) rs200381539 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.5458C>T (p.Leu1820=) rs754748296 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_015046.7(SETX):c.1099-7A>G rs764675117 0.00003
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342 0.00003
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu) rs1338284039 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly) rs1400027699 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504 0.00003
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu) rs557074957 0.00003
NM_015046.7(SETX):c.389-16A>G rs200380642 0.00003
NM_015046.7(SETX):c.396A>G (p.Leu132=) rs375232867 0.00003
NM_015046.7(SETX):c.4338G>A (p.Val1446=) rs777058489 0.00003
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile) rs756770572 0.00003
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=) rs768582274 0.00003
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=) rs777886975 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.6276T>C (p.Asp2092=) rs759395503 0.00003
NM_015046.7(SETX):c.6396+16G>A rs369168525 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6453C>T (p.Ile2151=) rs150599672 0.00003
NM_015046.7(SETX):c.6762C>T (p.Leu2254=) rs1225106822 0.00003
NM_015046.7(SETX):c.6843-5T>A rs943904959 0.00003
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp) rs1490101518 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_016169.4(SUFU):c.1157+3G>A rs764861812 0.00003
NM_016169.4(SUFU):c.126C>G (p.Arg42=) rs779935477 0.00003
NM_016169.4(SUFU):c.1366-8C>T rs1212706214 0.00003
NM_016169.4(SUFU):c.1428C>T (p.Asp476=) rs777069460 0.00003
NM_016169.4(SUFU):c.1446G>A (p.Pro482=) rs761389038 0.00003
NM_016169.4(SUFU):c.411C>T (p.Pro137=) rs946508687 0.00003
NM_016169.4(SUFU):c.474G>A (p.Gly158=) rs375178556 0.00003
NM_016169.4(SUFU):c.543G>A (p.Glu181=) rs1211026296 0.00003
NM_016169.4(SUFU):c.666G>T (p.Leu222=) rs142383792 0.00003
NM_016169.4(SUFU):c.873C>T (p.Ile291=) rs763453891 0.00003
NM_016169.4(SUFU):c.96G>C (p.Pro32=) rs1483435746 0.00003
NM_016373.4(WWOX):c.1029C>G (p.Thr343=) rs752273047 0.00003
NM_016373.4(WWOX):c.606-9A>G rs370129950 0.00003
NM_016373.4(WWOX):c.636A>C (p.Ala212=) rs1201180702 0.00003
NM_016373.4(WWOX):c.912C>T (p.Ser304=) rs745464578 0.00003
NM_017791.3(FLVCR2):c.*1319C>T rs541678412 0.00003
NM_018718.3(CEP41):c.225C>T (p.Ser75=) rs1402831101 0.00003
NM_018718.3(CEP41):c.33+9C>G rs376019428 0.00003
NM_018718.3(CEP41):c.510C>T (p.Asp170=) rs782083906 0.00003
NM_018718.3(CEP41):c.643-6T>A rs782610948 0.00003
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.987C>T (p.Ala329=) rs758596676 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser) rs117382379 0.00003
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=) rs767967824 0.00003
NM_182961.4(SYNE1):c.11902-15G>A rs777796940 0.00003
NM_182961.4(SYNE1):c.12114C>T (p.His4038=) rs200294294 0.00003
NM_182961.4(SYNE1):c.12471G>A (p.Lys4157=) rs1014589530 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=) rs760209358 0.00003
NM_182961.4(SYNE1):c.13458A>G (p.Pro4486=) rs998856849 0.00003
NM_182961.4(SYNE1):c.13896G>A (p.Ser4632=) rs1371756749 0.00003
NM_182961.4(SYNE1):c.14103C>T (p.Pro4701=) rs772247507 0.00003
NM_182961.4(SYNE1):c.15063T>C (p.Asn5021=) rs1376958261 0.00003
NM_182961.4(SYNE1):c.15414G>A (p.Ala5138=) rs746436040 0.00003
NM_182961.4(SYNE1):c.15489G>A (p.Glu5163=) rs750155092 0.00003
NM_182961.4(SYNE1):c.16026G>A (p.Thr5342=) rs776275832 0.00003
NM_182961.4(SYNE1):c.16212G>A (p.Ala5404=) rs150928921 0.00003
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=) rs769954729 0.00003
NM_182961.4(SYNE1):c.17577G>A (p.Pro5859=) rs375662583 0.00003
NM_182961.4(SYNE1):c.18013-16A>G rs1057523334 0.00003
NM_182961.4(SYNE1):c.18363C>T (p.Ala6121=) rs758953542 0.00003
NM_182961.4(SYNE1):c.18609C>T (p.Asp6203=) rs577804095 0.00003
NM_182961.4(SYNE1):c.18675G>A (p.Gln6225=) rs373495185 0.00003
NM_182961.4(SYNE1):c.19083C>T (p.Ala6361=) rs374088995 0.00003
NM_182961.4(SYNE1):c.19180T>C (p.Leu6394=) rs372723292 0.00003
NM_182961.4(SYNE1):c.19242T>C (p.Thr6414=) rs749942439 0.00003
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00003
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=) rs370065996 0.00003
NM_182961.4(SYNE1):c.21862-19A>T rs200421014 0.00003
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_182961.4(SYNE1):c.23302-8C>T rs376491803 0.00003
NM_182961.4(SYNE1):c.23978+10G>A rs377131754 0.00003
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779 0.00003
NM_182961.4(SYNE1):c.24390G>A (p.Gln8130=) rs768084185 0.00003
NM_182961.4(SYNE1):c.2475G>A (p.Thr825=) rs758181903 0.00003
NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=) rs781435849 0.00003
NM_182961.4(SYNE1):c.310-449A>T rs759834506 0.00003
NM_182961.4(SYNE1):c.3429T>C (p.Asn1143=) rs142372677 0.00003
NM_182961.4(SYNE1):c.3480C>T (p.His1160=) rs757238055 0.00003
NM_182961.4(SYNE1):c.3897G>C (p.Ala1299=) rs753027544 0.00003
NM_182961.4(SYNE1):c.581+17T>G rs747720370 0.00003
NM_182961.4(SYNE1):c.581+8T>C rs772647830 0.00003
NM_182961.4(SYNE1):c.6382-11T>C rs769649824 0.00003
NM_182961.4(SYNE1):c.6522C>T (p.Thr2174=) rs202207841 0.00003
NM_182961.4(SYNE1):c.7878C>T (p.His2626=) rs138196409 0.00003
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=) rs1268841274 0.00003
NM_182961.4(SYNE1):c.8691C>T (p.Leu2897=) rs368356217 0.00003
NM_182961.4(SYNE1):c.9093A>G (p.Arg3031=) rs149317945 0.00003
NM_182961.4(SYNE1):c.9114A>G (p.Gly3038=) rs754978329 0.00003
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=) rs1020832262 0.00003
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) rs148696208 0.00003
NM_000051.4(ATM):c.1065+17A>C rs373230921 0.00002
NM_000051.4(ATM):c.1104A>G (p.Gln368=) rs560691658 0.00002
NM_000051.4(ATM):c.1235+20T>G rs762656752 0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1392G>A (p.Leu464=) rs760191806 0.00002
NM_000051.4(ATM):c.1596C>T (p.Cys532=) rs564050785 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.1707C>T (p.Ser569=) rs1381837075 0.00002
NM_000051.4(ATM):c.1947A>G (p.Glu649=) rs1032244771 0.00002
NM_000051.4(ATM):c.2082T>C (p.Leu694=) rs369642243 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.2124+14A>G rs772719886 0.00002
NM_000051.4(ATM):c.2619A>G (p.Gly873=) rs777979257 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2638+8C>T rs776116433 0.00002
NM_000051.4(ATM):c.2736G>A (p.Gln912=) rs757305928 0.00002
NM_000051.4(ATM):c.2921+16C>A rs558376224 0.00002
NM_000051.4(ATM):c.2922-8T>C rs545892367 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 0.00002
NM_000051.4(ATM):c.3369A>G (p.Ala1123=) rs587780543 0.00002
NM_000051.4(ATM):c.3402+16A>G rs763382531 0.00002
NM_000051.4(ATM):c.3746+16A>T rs1252299197 0.00002
NM_000051.4(ATM):c.3747-9T>C rs760676626 0.00002
NM_000051.4(ATM):c.381A>G (p.Thr127=) rs762582522 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4476C>T (p.Ser1492=) rs780236656 0.00002
NM_000051.4(ATM):c.4482T>C (p.Cys1494=) rs769071554 0.00002
NM_000051.4(ATM):c.4575A>T (p.Ile1525=) rs781539071 0.00002
NM_000051.4(ATM):c.4612-17T>C rs550966528 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.4910-20T>G rs773731240 0.00002
NM_000051.4(ATM):c.4910-248T>C rs550591525 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.5005+8A>G rs1204604787 0.00002
NM_000051.4(ATM):c.5006-18T>A rs768321973 0.00002
NM_000051.4(ATM):c.5319+8A>G rs375051697 0.00002
NM_000051.4(ATM):c.5364C>T (p.Gly1788=) rs780134093 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.5762+6G>A rs776532221 0.00002
NM_000051.4(ATM):c.5817A>G (p.Leu1939=) rs749652134 0.00002
NM_000051.4(ATM):c.6042G>A (p.Glu2014=) rs138987778 0.00002
NM_000051.4(ATM):c.6153C>T (p.Leu2051=) rs876658452 0.00002
NM_000051.4(ATM):c.6219C>G (p.Leu2073=) rs752478345 0.00002
NM_000051.4(ATM):c.6246A>G (p.Lys2082=) rs745977589 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.6540A>G (p.Gly2180=) rs767516615 0.00002
NM_000051.4(ATM):c.6573-17dup rs1565517900 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.6897C>T (p.Phe2299=) rs777164914 0.00002
NM_000051.4(ATM):c.7038A>T (p.Ala2346=) rs146167034 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=) rs772228129 0.00002
NM_000051.4(ATM):c.7788+19C>T rs201990371 0.00002
NM_000051.4(ATM):c.8121C>T (p.Ser2707=) rs770138283 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000051.4(ATM):c.8164C>T (p.Leu2722=) rs587782399 0.00002
NM_000051.4(ATM):c.8169A>G (p.Arg2723=) rs780495319 0.00002
NM_000051.4(ATM):c.8268+6T>A rs747153940 0.00002
NM_000051.4(ATM):c.8269-16T>C rs375051442 0.00002
NM_000051.4(ATM):c.8427A>G (p.Gln2809=) rs538173062 0.00002
NM_000051.4(ATM):c.852A>G (p.Gln284=) rs140367473 0.00002
NM_000051.4(ATM):c.8671+18T>C rs763189977 0.00002
NM_000051.4(ATM):c.8786+11T>C rs368627124 0.00002
NM_000051.4(ATM):c.8786+12G>A rs767836309 0.00002
NM_000051.4(ATM):c.9045G>A (p.Glu3015=) rs786203336 0.00002
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr) rs369870357 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931 0.00002
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=) rs963559886 0.00002
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=) rs1229201370 0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=) rs764764261 0.00002
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln) rs754310499 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001044385.3(TMEM237):c.274+18G>A rs762194214 0.00002
NM_001044385.3(TMEM237):c.75-7G>A rs1443411958 0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=) rs934193386 0.00002
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00002
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) rs747144567 0.00002
NM_001134831.2(AHI1):c.2623+12T>C rs763402338 0.00002
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_001244189.2(KIAA0586):c.9+14C>T rs1036728165 0.00002
NM_001329943.3(KIAA0586):c.1130-14C>G rs1457711769 0.00002
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141 0.00002
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=) rs769869324 0.00002
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=) rs1031513625 0.00002
NM_001329943.3(KIAA0586):c.3782-18T>C rs1430875009 0.00002
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=) rs113191202 0.00002
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=) rs1375416810 0.00002
NM_001329943.3(KIAA0586):c.4169-8G>C rs766302985 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala) rs773251870 0.00002
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=) rs148320813 0.00002
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=) rs17215451 0.00002
NM_001378969.1(KCND3):c.1519-5C>T rs376408039 0.00002
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=) rs771385731 0.00002
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=) rs181971539 0.00002
NM_001378969.1(KCND3):c.318G>A (p.Pro106=) rs770807162 0.00002
NM_001378969.1(KCND3):c.321C>A (p.Arg107=) rs746952612 0.00002
NM_001378969.1(KCND3):c.348C>T (p.Asp116=) rs756600533 0.00002
NM_001378969.1(KCND3):c.576C>T (p.Phe192=) rs759120826 0.00002
NM_001378969.1(KCND3):c.879C>T (p.Arg293=) rs147739517 0.00002
NM_001378969.1(KCND3):c.9C>T (p.Ala3=) rs777097802 0.00002
NM_001379286.1(ZNF423):c.1257C>T (p.Cys419=) rs776280246 0.00002
NM_001379286.1(ZNF423):c.147G>A (p.Ala49=) rs566780634 0.00002
NM_001379286.1(ZNF423):c.1524C>T (p.Arg508=) rs756062396 0.00002
NM_001379286.1(ZNF423):c.1749C>A (p.Gly583=) rs781209503 0.00002
NM_001379286.1(ZNF423):c.1839A>G (p.Pro613=) rs995462604 0.00002
NM_001379286.1(ZNF423):c.1935C>T (p.Cys645=) rs144950533 0.00002
NM_001379286.1(ZNF423):c.231C>T (p.Cys77=) rs767825226 0.00002
NM_001379286.1(ZNF423):c.273G>A (p.Thr91=) rs762110313 0.00002
NM_001379286.1(ZNF423):c.2832A>G (p.Ser944=) rs771821915 0.00002
NM_001379286.1(ZNF423):c.2943G>A (p.Thr981=) rs768277837 0.00002
NM_001379286.1(ZNF423):c.3084C>T (p.Phe1028=) rs747583543 0.00002
NM_001379286.1(ZNF423):c.3222C>T (p.Cys1074=) rs748651721 0.00002
NM_001379286.1(ZNF423):c.3252G>A (p.Lys1084=) rs371197547 0.00002
NM_001379286.1(ZNF423):c.3321C>T (p.Ser1107=) rs545010534 0.00002
NM_001379286.1(ZNF423):c.339G>A (p.Ser113=) rs191436768 0.00002
NM_001379286.1(ZNF423):c.3850-15T>G rs777569372 0.00002
NM_001379286.1(ZNF423):c.3876G>A (p.Gln1292=) rs763108153 0.00002
NM_001379286.1(ZNF423):c.40+33073G>C rs781136140 0.00002
NM_001379286.1(ZNF423):c.939C>T (p.Val313=) rs764527468 0.00002
NM_001382391.1(CSPP1):c.-10-4A>T rs762753703 0.00002
NM_001382391.1(CSPP1):c.-96C>T rs751458139 0.00002
NM_001382391.1(CSPP1):c.1188-16del rs773422166 0.00002
NM_001382391.1(CSPP1):c.1618+16G>A rs768004861 0.00002
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=) rs762725926 0.00002
NM_001382391.1(CSPP1):c.2128+10C>A rs769248386 0.00002
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=) rs758218835 0.00002
NM_001382391.1(CSPP1):c.2392-14T>C rs781185001 0.00002
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=) rs759957152 0.00002
NM_001382391.1(CSPP1):c.2968+10T>C rs374325149 0.00002
NM_001382391.1(CSPP1):c.3221-19C>T rs750846829 0.00002
NM_001382391.1(CSPP1):c.3330+11G>A rs1339355378 0.00002
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) rs552763349 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001382391.1(CSPP1):c.483+10G>C rs758310938 0.00002
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=) rs1395679668 0.00002
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=) rs759906585 0.00002
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=) rs750069772 0.00002
NM_003640.5(ELP1):c.2587+10C>T rs771045250 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=) rs775602185 0.00002
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802 0.00002
NM_014363.6(SACS):c.2472G>A (p.Ser824=) rs554395185 0.00002
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597 0.00002
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_015046.7(SETX):c.1099-12C>A rs752063617 0.00002
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830 0.00002
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) rs769620847 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.3450A>G (p.Glu1150=) rs771495291 0.00002
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys) rs267607044 0.00002
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305 0.00002
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala) rs759653127 0.00002
NM_015046.7(SETX):c.4683G>C (p.Gln1561His) rs772991134 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157 0.00002
NM_015046.7(SETX):c.5502C>T (p.His1834=) rs117410554 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5859A>G (p.Pro1953=) rs1423165535 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.855T>C (p.Pro285=) rs141736312 0.00002
NM_015046.7(SETX):c.867G>A (p.Ala289=) rs769799706 0.00002
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_015046.7(SETX):c.963C>T (p.Asn321=) rs750254836 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_016169.4(SUFU):c.1008C>T (p.Ala336=) rs770049693 0.00002
NM_016169.4(SUFU):c.1157+7G>A rs371548374 0.00002
NM_016169.4(SUFU):c.1221G>A (p.Thr407=) rs555064651 0.00002
NM_016169.4(SUFU):c.1300C>T (p.Leu434=) rs369670140 0.00002
NM_016169.4(SUFU):c.1437C>T (p.Phe479=) rs768454343 0.00002
NM_016169.4(SUFU):c.405A>G (p.Thr135=) rs760827494 0.00002
NM_016169.4(SUFU):c.441C>T (p.Tyr147=) rs201489422 0.00002
NM_016169.4(SUFU):c.455-18C>T rs760955559 0.00002
NM_016169.4(SUFU):c.597+6G>A rs1038799345 0.00002
NM_016169.4(SUFU):c.678G>A (p.Val226=) rs201328407 0.00002
NM_016169.4(SUFU):c.683+8C>T rs369232884 0.00002
NM_016169.4(SUFU):c.684-14T>G rs2063433799 0.00002
NM_016169.4(SUFU):c.684-17C>G rs1454924481 0.00002
NM_016169.4(SUFU):c.715C>A (p.Arg239=) rs369465986 0.00002
NM_016169.4(SUFU):c.807C>T (p.Val269=) rs919110211 0.00002
NM_016373.4(WWOX):c.1057-4C>T rs555716977 0.00002
NM_016373.4(WWOX):c.172+19A>G rs1198975338 0.00002
NM_016373.4(WWOX):c.183C>T (p.Tyr61=) rs759766243 0.00002
NM_016373.4(WWOX):c.210C>T (p.Asn70=) rs762102064 0.00002
NM_016373.4(WWOX):c.282G>A (p.Val94=) rs771301969 0.00002
NM_016373.4(WWOX):c.414C>T (p.Phe138=) rs767693780 0.00002
NM_016373.4(WWOX):c.453G>A (p.Val151=) rs375649496 0.00002
NM_016373.4(WWOX):c.555T>C (p.Ala185=) rs748722105 0.00002
NM_016373.4(WWOX):c.651C>G (p.Pro217=) rs746893085 0.00002
NM_016373.4(WWOX):c.791+14G>A rs753689854 0.00002
NM_016373.4(WWOX):c.792-6T>G rs771690273 0.00002
NM_016373.4(WWOX):c.792-9A>G rs376320385 0.00002
NM_016373.4(WWOX):c.836G>A (p.Arg279His) rs748534396 0.00002
NM_016373.4(WWOX):c.933C>G (p.Leu311=) rs757508300 0.00002
NM_016373.4(WWOX):c.942C>T (p.Arg314=) rs568012503 0.00002
NM_016464.5(TMEM138):c.128+8C>T rs769334895 0.00002
NM_016464.5(TMEM138):c.192C>T (p.Phe64=) rs199841349 0.00002
NM_016464.5(TMEM138):c.426C>T (p.Gly142=) rs781330063 0.00002
NM_018718.3(CEP41):c.1050T>G (p.Gly350=) rs374440977 0.00002
NM_018718.3(CEP41):c.205C>T (p.Leu69=) rs144793783 0.00002
NM_018718.3(CEP41):c.277+19G>A rs377242873 0.00002
NM_018718.3(CEP41):c.723G>A (p.Glu241=) rs782303641 0.00002
NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met) rs555798090 0.00002
NM_024411.5(PDYN):c.456C>T (p.Asn152=) rs148113209 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly) rs202004988 0.00002
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=) rs750318922 0.00002
NM_182961.4(SYNE1):c.114C>T (p.Asn38=) rs150562892 0.00002
NM_182961.4(SYNE1):c.123G>A (p.Leu41=) rs757646961 0.00002
NM_182961.4(SYNE1):c.12529-11T>G rs886977669 0.00002
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253 0.00002
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=) rs773593843 0.00002
NM_182961.4(SYNE1):c.13299C>T (p.His4433=) rs763090658 0.00002
NM_182961.4(SYNE1):c.14349C>T (p.His4783=) rs767810691 0.00002
NM_182961.4(SYNE1):c.15174C>T (p.Thr5058=) rs377428273 0.00002
NM_182961.4(SYNE1):c.15399G>A (p.Ser5133=) rs761249756 0.00002
NM_182961.4(SYNE1):c.15918C>T (p.Asn5306=) rs1354133843 0.00002
NM_182961.4(SYNE1):c.15942T>C (p.Asn5314=) rs555697165 0.00002
NM_182961.4(SYNE1):c.16167T>C (p.Tyr5389=) rs200796273 0.00002
NM_182961.4(SYNE1):c.16198T>C (p.Leu5400=) rs541916760 0.00002
NM_182961.4(SYNE1):c.16237-13del rs758437735 0.00002
NM_182961.4(SYNE1):c.16897-13A>G rs754825945 0.00002
NM_182961.4(SYNE1):c.17847T>C (p.Asn5949=) rs755030815 0.00002
NM_182961.4(SYNE1):c.17850+19del rs1362611063 0.00002
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=) rs558367406 0.00002
NM_182961.4(SYNE1):c.18507G>A (p.Leu6169=) rs1194007387 0.00002
NM_182961.4(SYNE1):c.18621G>A (p.Thr6207=) rs754877966 0.00002
NM_182961.4(SYNE1):c.18633C>T (p.Gly6211=) rs755740458 0.00002
NM_182961.4(SYNE1):c.19471-17G>A rs764198291 0.00002
NM_182961.4(SYNE1):c.20607A>G (p.Leu6869=) rs752269968 0.00002
NM_182961.4(SYNE1):c.20712+7A>T rs776363510 0.00002
NM_182961.4(SYNE1):c.20862+17G>A rs755276403 0.00002
NM_182961.4(SYNE1):c.21465A>T (p.Arg7155=) rs781552217 0.00002
NM_182961.4(SYNE1):c.2286A>G (p.Gln762=) rs375103550 0.00002
NM_182961.4(SYNE1):c.23020-5G>A rs754289166 0.00002
NM_182961.4(SYNE1):c.23103G>A (p.Pro7701=) rs752017186 0.00002
NM_182961.4(SYNE1):c.23214C>G (p.Leu7738=) rs543882781 0.00002
NM_182961.4(SYNE1):c.23355C>T (p.Phe7785=) rs772418162 0.00002
NM_182961.4(SYNE1):c.23373A>G (p.Glu7791=) rs993468538 0.00002
NM_182961.4(SYNE1):c.23978+11A>T rs754355745 0.00002
NM_182961.4(SYNE1):c.24313-8C>T rs201008999 0.00002
NM_182961.4(SYNE1):c.24450+9T>C rs746934542 0.00002
NM_182961.4(SYNE1):c.25246+17C>T rs772625869 0.00002
NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=) rs144459490 0.00002
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762 0.00002
NM_182961.4(SYNE1):c.2889C>T (p.His963=) rs747231741 0.00002
NM_182961.4(SYNE1):c.2892+8C>T rs374408461 0.00002
NM_182961.4(SYNE1):c.3465C>T (p.Ile1155=) rs770210620 0.00002
NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val) rs746060505 0.00002
NM_182961.4(SYNE1):c.3657G>A (p.Thr1219=) rs756713928 0.00002
NM_182961.4(SYNE1):c.3837+8T>C rs377391406 0.00002
NM_182961.4(SYNE1):c.4008+16T>C rs763851876 0.00002
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=) rs762887399 0.00002
NM_182961.4(SYNE1):c.4059A>G (p.Val1353=) rs769854299 0.00002
NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=) rs528090478 0.00002
NM_182961.4(SYNE1):c.4461+14A>T rs554281097 0.00002
NM_182961.4(SYNE1):c.4821C>T (p.Ser1607=) rs754445939 0.00002
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377 0.00002
NM_182961.4(SYNE1):c.581+10_581+11del rs1429057946 0.00002
NM_182961.4(SYNE1):c.582-6A>G rs199728167 0.00002
NM_182961.4(SYNE1):c.6724-14T>C rs768271718 0.00002
NM_182961.4(SYNE1):c.6933G>A (p.Lys2311=) rs375127604 0.00002
NM_182961.4(SYNE1):c.8373C>T (p.His2791=) rs1465961867 0.00002
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=) rs757737346 0.00002
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=) rs143105336 0.00002
NM_182961.4(SYNE1):c.8784C>T (p.Ala2928=) rs759200516 0.00002
NM_182961.4(SYNE1):c.9630G>A (p.Arg3210=) rs757280513 0.00002
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841 0.00002
NM_182961.4(SYNE1):c.9973-16G>C rs1200216933 0.00002
NM_198994.3(TGM6):c.717G>A (p.Gln239=) rs201506281 0.00002
NM_198994.3(TGM6):c.850+4C>T rs765181893 0.00002
NM_000051.4(ATM):c.1023C>T (p.Val341=) rs35728619 0.00001
NM_000051.4(ATM):c.1029A>G (p.Glu343=) rs778388800 0.00001
NM_000051.4(ATM):c.1038T>A (p.Ile346=) rs749950833 0.00001
NM_000051.4(ATM):c.1065+18T>A rs774940342 0.00001
NM_000051.4(ATM):c.1110C>T (p.Tyr370=) rs376170600 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 0.00001
NM_000051.4(ATM):c.1197C>T (p.His399=) rs786201131 0.00001
NM_000051.4(ATM):c.1203G>A (p.Gln401=) rs1214283617 0.00001
NM_000051.4(ATM):c.1206G>A (p.Lys402=) rs776001057 0.00001
NM_000051.4(ATM):c.1209A>G (p.Ser403=) rs1213832469 0.00001
NM_000051.4(ATM):c.1235+11dup rs773187419 0.00001
NM_000051.4(ATM):c.1235+14A>G rs776931625 0.00001
NM_000051.4(ATM):c.1235+5A>T rs1064793679 0.00001
NM_000051.4(ATM):c.1236-8T>C rs756160331 0.00001
NM_000051.4(ATM):c.1242G>A (p.Gln414=) rs786203667 0.00001
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro) rs376196220 0.00001
NM_000051.4(ATM):c.1302A>G (p.Pro434=) rs1555070715 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1317A>G (p.Leu439=) rs1232968268 0.00001
NM_000051.4(ATM):c.1329A>C (p.Leu443=) rs201460863 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.1338G>A (p.Gln446=) rs771673512 0.00001
NM_000051.4(ATM):c.1362T>C (p.Tyr454=) rs1373614735 0.00001
NM_000051.4(ATM):c.138T>C (p.His46=) rs770834907 0.00001
NM_000051.4(ATM):c.1407G>A (p.Arg469=) rs1555070912 0.00001
NM_000051.4(ATM):c.1410A>G (p.Ser470=) rs939650649 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1455T>C (p.Asn485=) rs1385019623 0.00001
NM_000051.4(ATM):c.1473C>G (p.Thr491=) rs764937436 0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=) rs763108858 0.00001
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser) rs56365018 0.00001
NM_000051.4(ATM):c.1515T>C (p.Phe505=) rs1057520521 0.00001
NM_000051.4(ATM):c.1536T>A (p.Ile512=) rs1060504296 0.00001
NM_000051.4(ATM):c.153A>G (p.Gln51=) rs2078823585 0.00001
NM_000051.4(ATM):c.1575G>A (p.Lys525=) rs587780613 0.00001
NM_000051.4(ATM):c.1607+16A>G rs1057522219 0.00001
NM_000051.4(ATM):c.1608-8T>C rs201110707 0.00001
NM_000051.4(ATM):c.1614A>G (p.Ala538=) rs876659636 0.00001
NM_000051.4(ATM):c.1641C>A (p.Thr547=) rs864622141 0.00001
NM_000051.4(ATM):c.1656A>G (p.Pro552=) rs1060504275 0.00001
NM_000051.4(ATM):c.1662G>A (p.Thr554=) rs764646531 0.00001
NM_000051.4(ATM):c.1746C>T (p.Phe582=) rs145629926 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.1758G>A (p.Glu586=) rs1555072017 0.00001
NM_000051.4(ATM):c.1802+20A>G rs1009750697 0.00001
NM_000051.4(ATM):c.1802+7T>G rs1057521381 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.185+7T>C rs143404880 0.00001
NM_000051.4(ATM):c.185+8A>G rs753891198 0.00001
NM_000051.4(ATM):c.186-19G>A rs748791429 0.00001
NM_000051.4(ATM):c.186-8T>C rs1355404740 0.00001
NM_000051.4(ATM):c.1893A>G (p.Pro631=) rs764702196 0.00001
NM_000051.4(ATM):c.1898+9T>C rs1057520836 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 0.00001
NM_000051.4(ATM):c.1899-11C>T rs730881282 0.00001
NM_000051.4(ATM):c.1899-15C>A rs759924007 0.00001
NM_000051.4(ATM):c.1899-9T>G rs1591533635 0.00001
NM_000051.4(ATM):c.1929T>G (p.Leu643=) rs876659911 0.00001
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.2088A>G (p.Gly696=) rs1555073469 0.00001
NM_000051.4(ATM):c.2124+16A>G rs762709930 0.00001
NM_000051.4(ATM):c.2125-11T>A rs1054208254 0.00001
NM_000051.4(ATM):c.2125-8A>G rs757565418 0.00001
NM_000051.4(ATM):c.2175C>T (p.Val725=) rs140110298 0.00001
NM_000051.4(ATM):c.2181C>T (p.Gly727=) rs876658836 0.00001
NM_000051.4(ATM):c.2208T>C (p.Ala736=) rs761874856 0.00001
NM_000051.4(ATM):c.2229A>G (p.Ser743=) rs758453118 0.00001
NM_000051.4(ATM):c.2238C>T (p.Phe746=) rs786203595 0.00001
NM_000051.4(ATM):c.2250+18A>G rs895190150 0.00001
NM_000051.4(ATM):c.2250+20T>C rs377570109 0.00001
NM_000051.4(ATM):c.2251-11A>G rs755369461 0.00001
NM_000051.4(ATM):c.2251-7A>G rs879254103 0.00001
NM_000051.4(ATM):c.2322T>C (p.Gly774=) rs769575297 0.00001
NM_000051.4(ATM):c.2331A>G (p.Arg777=) rs1313482346 0.00001
NM_000051.4(ATM):c.2373C>T (p.Thr791=) rs878853494 0.00001
NM_000051.4(ATM):c.2376+16T>C rs751221076 0.00001
NM_000051.4(ATM):c.2377-13G>C rs1296989358 0.00001
NM_000051.4(ATM):c.2377-18T>C rs761207086 0.00001
NM_000051.4(ATM):c.2377-19T>G rs775771700 0.00001
NM_000051.4(ATM):c.2379G>A (p.Lys793=) rs1333875379 0.00001
NM_000051.4(ATM):c.2419T>C (p.Leu807=) rs1555076667 0.00001
NM_000051.4(ATM):c.2466+19T>G rs374249638 0.00001
NM_000051.4(ATM):c.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.2467-12T>G rs1469467036 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.2467-9T>A rs1555082040 0.00001
NM_000051.4(ATM):c.246A>G (p.Val82=) rs757944864 0.00001
NM_000051.4(ATM):c.2475C>T (p.Phe825=) rs776907383 0.00001
NM_000051.4(ATM):c.2532A>G (p.Gly844=) rs755261743 0.00001
NM_000051.4(ATM):c.2550G>A (p.Glu850=) rs1399925352 0.00001
NM_000051.4(ATM):c.2571A>G (p.Leu857=) rs1191404395 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2589T>C (p.Asp863=) rs1057520227 0.00001
NM_000051.4(ATM):c.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.261A>G (p.Gln87=) rs2078887941 0.00001
NM_000051.4(ATM):c.2639-18A>G rs1555083057 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.2639-9T>G rs1457466709 0.00001
NM_000051.4(ATM):c.2688T>C (p.Leu896=) rs769490863 0.00001
NM_000051.4(ATM):c.2712G>A (p.Leu904=) rs1409179618 0.00001
NM_000051.4(ATM):c.2716T>C (p.Leu906=) rs368047468 0.00001
NM_000051.4(ATM):c.2748G>T (p.Val916=) rs1050470790 0.00001
NM_000051.4(ATM):c.2838+13A>G rs778502800 0.00001
NM_000051.4(ATM):c.2838+20G>A rs1310769991 0.00001
NM_000051.4(ATM):c.2838+8dup rs1364656453 0.00001
NM_000051.4(ATM):c.2839-10A>G rs770032309 0.00001
NM_000051.4(ATM):c.2839-16C>T rs761953913 0.00001
NM_000051.4(ATM):c.2859G>A (p.Glu953=) rs569489729 0.00001
NM_000051.4(ATM):c.2862T>C (p.Leu954=) rs1426256662 0.00001
NM_000051.4(ATM):c.2921+15C>A rs1057521619 0.00001
NM_000051.4(ATM):c.2922-20T>G rs768172184 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.2940T>C (p.Tyr980=) rs748119565 0.00001
NM_000051.4(ATM):c.2970T>C (p.Ile990=) rs2081569239 0.00001
NM_000051.4(ATM):c.3003A>G (p.Leu1001=) rs765969190 0.00001
NM_000051.4(ATM):c.3030C>T (p.Asn1010=) rs876660913 0.00001
NM_000051.4(ATM):c.3077+8C>G rs752601608 0.00001
NM_000051.4(ATM):c.3078-11C>T rs756972430 0.00001
NM_000051.4(ATM):c.3099A>G (p.Lys1033=) rs1813895840 0.00001
NM_000051.4(ATM):c.309C>T (p.Tyr103=) rs777499935 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3114A>T (p.Val1038=) rs374451781 0.00001
NM_000051.4(ATM):c.3126A>G (p.Leu1042=) rs770038542 0.00001
NM_000051.4(ATM):c.3132T>C (p.Asn1044=) rs1430714562 0.00001
NM_000051.4(ATM):c.3138T>G (p.Leu1046=) rs3092858 0.00001
NM_000051.4(ATM):c.3153+11G>A rs760086749 0.00001
NM_000051.4(ATM):c.3153+18T>C rs1555085921 0.00001
NM_000051.4(ATM):c.3154-11T>C rs748543045 0.00001
NM_000051.4(ATM):c.3154-16A>G rs556888479 0.00001
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=) rs768038217 0.00001
NM_000051.4(ATM):c.3189A>G (p.Val1063=) rs76122065 0.00001
NM_000051.4(ATM):c.3216A>G (p.Glu1072=) rs373699194 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3283A>C (p.Arg1095=) rs876660302 0.00001
NM_000051.4(ATM):c.3284+6G>C rs1228954245 0.00001
NM_000051.4(ATM):c.3284+7G>C rs371629629 0.00001
NM_000051.4(ATM):c.3285-19T>C rs749167327 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.331+10G>A rs755557468 0.00001
NM_000051.4(ATM):c.331+7G>A rs1184757004 0.00001
NM_000051.4(ATM):c.3330A>G (p.Ala1110=) rs1009383081 0.00001
NM_000051.4(ATM):c.3333T>G (p.Leu1111=) rs750932338 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.3351A>G (p.Gln1117=) rs777375945 0.00001
NM_000051.4(ATM):c.3402+14A>C rs200494541 0.00001
NM_000051.4(ATM):c.3402+5T>C rs1057520229 0.00001
NM_000051.4(ATM):c.3402+9A>G rs761919506 0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=) rs369518512 0.00001
NM_000051.4(ATM):c.3453A>G (p.Lys1151=) rs977448999 0.00001
NM_000051.4(ATM):c.3504C>T (p.Cys1168=) rs876658368 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3558A>G (p.Glu1186=) rs12786957 0.00001
NM_000051.4(ATM):c.3577-12T>C rs757616718 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3606A>G (p.Gly1202=) rs1189826741 0.00001
NM_000051.4(ATM):c.3627T>C (p.Phe1209=) rs762605020 0.00001
NM_000051.4(ATM):c.366T>C (p.Asn122=) rs1178025248 0.00001
NM_000051.4(ATM):c.3720C>T (p.Asn1240=) rs1478427829 0.00001
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=) rs772331389 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.3746+12C>A rs768841674 0.00001
NM_000051.4(ATM):c.3746+17C>T rs1057520850 0.00001
NM_000051.4(ATM):c.3747-8A>G rs569612113 0.00001
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=) rs886039637 0.00001
NM_000051.4(ATM):c.3771A>C (p.Pro1257=) rs1057523320 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3918T>C (p.Ser1306=) rs139632347 0.00001
NM_000051.4(ATM):c.3921G>A (p.Gly1307=) rs969461745 0.00001
NM_000051.4(ATM):c.3951G>A (p.Lys1317=) rs1485996895 0.00001
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000051.4(ATM):c.4023A>T (p.Pro1341=) rs1020202983 0.00001
NM_000051.4(ATM):c.4032G>C (p.Val1344=) rs769871715 0.00001
NM_000051.4(ATM):c.4056T>C (p.His1352=) rs587780622 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.4101C>T (p.Asp1367=) rs587780623 0.00001
NM_000051.4(ATM):c.4109+10T>C rs1236628481 0.00001
NM_000051.4(ATM):c.4109+11T>C rs749158400 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.4109+9A>C rs730881289 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.4110-9C>A rs730881367 0.00001
NM_000051.4(ATM):c.4114T>C (p.Leu1372=) rs762242838 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4236+11A>G rs368684533 0.00001
NM_000051.4(ATM):c.4236+12T>C rs369996463 0.00001
NM_000051.4(ATM):c.4236+8T>C rs765636697 0.00001
NM_000051.4(ATM):c.4237-13G>A rs778685615 0.00001
NM_000051.4(ATM):c.4237-18A>G rs756842639 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.42A>G (p.Gln14=) rs771378101 0.00001
NM_000051.4(ATM):c.4305G>A (p.Lys1435=) rs763567469 0.00001
NM_000051.4(ATM):c.433C>T (p.Leu145=) rs587782328 0.00001
NM_000051.4(ATM):c.4356T>C (p.Asp1452=) rs1283294799 0.00001
NM_000051.4(ATM):c.4359A>T (p.Ile1453=) rs1213190389 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4398A>G (p.Arg1466=) rs142728382 0.00001
NM_000051.4(ATM):c.4401C>T (p.Asp1467=) rs876660356 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4437-12T>C rs772888878 0.00001
NM_000051.4(ATM):c.4437-13dup rs1555099701 0.00001
NM_000051.4(ATM):c.4437-20T>G rs558432723 0.00001
NM_000051.4(ATM):c.4467T>C (p.Arg1489=) rs746296827 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.4500G>A (p.Gln1500=) rs1345605814 0.00001
NM_000051.4(ATM):c.450T>A (p.Leu150=) rs1168425290 0.00001
NM_000051.4(ATM):c.4515C>T (p.Ala1505=) rs540798997 0.00001
NM_000051.4(ATM):c.4518G>A (p.Val1506=) rs1057524110 0.00001
NM_000051.4(ATM):c.4551T>A (p.Leu1517=) rs1459998980 0.00001
NM_000051.4(ATM):c.4569A>G (p.Thr1523=) rs1555099963 0.00001
NM_000051.4(ATM):c.456G>T (p.Val152=) rs1555059433 0.00001
NM_000051.4(ATM):c.4611+19T>C rs776602821 0.00001
NM_000051.4(ATM):c.4611+9C>G rs760704159 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.4615T>C (p.Leu1539=) rs976206782 0.00001
NM_000051.4(ATM):c.4629A>G (p.Lys1543=) rs745565564 0.00001
NM_000051.4(ATM):c.4677T>A (p.Ile1559=) rs759660081 0.00001
NM_000051.4(ATM):c.4761C>T (p.Pro1587=) rs769562370 0.00001
NM_000051.4(ATM):c.4770C>T (p.Leu1590=) rs749475519 0.00001
NM_000051.4(ATM):c.4776+15A>C rs759607134 0.00001
NM_000051.4(ATM):c.4777-15C>T rs1057521023 0.00001
NM_000051.4(ATM):c.4777-4T>C rs756025941 0.00001
NM_000051.4(ATM):c.4779A>G (p.Glu1593=) rs587778076 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4821A>G (p.Pro1607=) rs786203559 0.00001
NM_000051.4(ATM):c.4822T>C (p.Leu1608=) rs775464644 0.00001
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln) rs765759912 0.00001
NM_000051.4(ATM):c.4878T>C (p.Asp1626=) rs755687834 0.00001
NM_000051.4(ATM):c.48A>G (p.Glu16=) rs774768437 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.4910-5T>C rs1309478967 0.00001
NM_000051.4(ATM):c.493T>C (p.Leu165=) rs878853514 0.00001
NM_000051.4(ATM):c.4947C>T (p.Val1649=) rs1436324961 0.00001
NM_000051.4(ATM):c.496+16T>G rs776924718 0.00001
NM_000051.4(ATM):c.497-14_497-13insC rs776788385 0.00001
NM_000051.4(ATM):c.497-4T>A rs876659621 0.00001
NM_000051.4(ATM):c.4977A>T (p.Ile1659=) rs199888434 0.00001
NM_000051.4(ATM):c.5005+13C>T rs1192513529 0.00001
NM_000051.4(ATM):c.5005+9C>T rs730881291 0.00001
NM_000051.4(ATM):c.5006-3T>C rs761297488 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5055C>T (p.Thr1685=) rs587780551 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.5079T>C (p.Asp1693=) rs753036834 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.5136C>T (p.Phe1712=) rs786203371 0.00001
NM_000051.4(ATM):c.5157T>C (p.Asn1719=) rs786203254 0.00001
NM_000051.4(ATM):c.5164C>T (p.Leu1722=) rs1255639252 0.00001
NM_000051.4(ATM):c.5177+3G>A rs774216164 0.00001
NM_000051.4(ATM):c.5220T>A (p.Ile1740=) rs1452225772 0.00001
NM_000051.4(ATM):c.522C>G (p.Leu174=) rs780173724 0.00001
NM_000051.4(ATM):c.5271A>G (p.Thr1757=) rs1555105759 0.00001
NM_000051.4(ATM):c.5310A>G (p.Ser1770=) rs1060504282 0.00001
NM_000051.4(ATM):c.5319+20T>C rs775616416 0.00001
NM_000051.4(ATM):c.5319+7T>A rs925428128 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5320-4C>G rs1316146972 0.00001
NM_000051.4(ATM):c.5355T>G (p.Pro1785=) rs1025083720 0.00001
NM_000051.4(ATM):c.5382G>A (p.Leu1794=) rs188362115 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5497-10T>C rs1457831101 0.00001
NM_000051.4(ATM):c.5544T>C (p.Asp1848=) rs146568734 0.00001
NM_000051.4(ATM):c.5553C>G (p.Leu1851=) rs786201126 0.00001
NM_000051.4(ATM):c.5595T>C (p.His1865=) rs772261410 0.00001
NM_000051.4(ATM):c.5613C>T (p.Thr1871=) rs2083601650 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5634G>A (p.Ser1878=) rs767070325 0.00001
NM_000051.4(ATM):c.5640G>A (p.Thr1880=) rs757103582 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5661A>G (p.Ala1887=) rs876658939 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5688T>C (p.Phe1896=) rs2083815927 0.00001
NM_000051.4(ATM):c.5718A>G (p.Gln1906=) rs863224293 0.00001
NM_000051.4(ATM):c.573T>A (p.Ile191=) rs775003417 0.00001
NM_000051.4(ATM):c.5762+19C>T rs1170960696 0.00001
NM_000051.4(ATM):c.5763-19A>G rs967402817 0.00001
NM_000051.4(ATM):c.5835T>G (p.Ala1945=) rs768106055 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5886A>G (p.Ala1962=) rs1057522876 0.00001
NM_000051.4(ATM):c.5918+7G>A rs1423323603 0.00001
NM_000051.4(ATM):c.5919-19G>A rs1679583556 0.00001
NM_000051.4(ATM):c.5919-8A>G rs1176654682 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.5964C>T (p.Ser1988=) rs774260725 0.00001
NM_000051.4(ATM):c.6006+13G>C rs368207631 0.00001
NM_000051.4(ATM):c.6006+17C>G rs1218097012 0.00001
NM_000051.4(ATM):c.6006+8T>C rs56019194 0.00001
NM_000051.4(ATM):c.6007-10A>G rs373395916 0.00001
NM_000051.4(ATM):c.6007-16G>A rs771998564 0.00001
NM_000051.4(ATM):c.6012T>C (p.Leu2004=) rs1324998068 0.00001
NM_000051.4(ATM):c.6015C>T (p.Leu2005=) rs1397821498 0.00001
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=) rs777534711 0.00001
NM_000051.4(ATM):c.6095+8G>T rs547072690 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.6097C>T (p.Leu2033=) rs769813736 0.00001
NM_000051.4(ATM):c.6105A>G (p.Thr2035=) rs1555113708 0.00001
NM_000051.4(ATM):c.6192C>A (p.Ile2064=) rs876659831 0.00001
NM_000051.4(ATM):c.6198+11T>C rs774664615 0.00001
NM_000051.4(ATM):c.6199-6G>A rs1555114529 0.00001
NM_000051.4(ATM):c.6250T>C (p.Leu2084=) rs772608345 0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser) rs946942912 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.6336C>T (p.Cys2112=) rs755845798 0.00001
NM_000051.4(ATM):c.6342C>T (p.Ser2114=) rs754020535 0.00001
NM_000051.4(ATM):c.6348-3C>T rs946541820 0.00001
NM_000051.4(ATM):c.6348-5C>A rs1388651064 0.00001
NM_000051.4(ATM):c.6394C>T (p.Leu2132=) rs551408889 0.00001
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=) rs1057519167 0.00001
NM_000051.4(ATM):c.6452+13G>A rs760228732 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.6453-17T>G rs1057522251 0.00001
NM_000051.4(ATM):c.6456A>G (p.Val2152=) rs876660014 0.00001
NM_000051.4(ATM):c.6504G>A (p.Ser2168=) rs786203522 0.00001
NM_000051.4(ATM):c.6507C>G (p.Leu2169=) rs863224295 0.00001
NM_000051.4(ATM):c.6516A>G (p.Thr2172=) rs576254168 0.00001
NM_000051.4(ATM):c.6522C>T (p.Ser2174=) rs772850740 0.00001
NM_000051.4(ATM):c.6558G>A (p.Gly2186=) rs1555117263 0.00001
NM_000051.4(ATM):c.6572+13T>C rs1441875536 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.663-19C>G rs1044060944 0.00001
NM_000051.4(ATM):c.6630G>A (p.Gln2210=) rs777515589 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6687C>A (p.Val2229=) rs1442555144 0.00001
NM_000051.4(ATM):c.6700C>T (p.Leu2234=) rs760602228 0.00001
NM_000051.4(ATM):c.6756C>T (p.Thr2252=) rs1008212556 0.00001
NM_000051.4(ATM):c.6807+10A>G rs924117395 0.00001
NM_000051.4(ATM):c.6808-13A>G rs1410228904 0.00001
NM_000051.4(ATM):c.6808-20A>G rs1240565463 0.00001
NM_000051.4(ATM):c.6846T>C (p.Asn2282=) rs541718119 0.00001
NM_000051.4(ATM):c.6924C>A (p.Ala2308=) rs759878732 0.00001
NM_000051.4(ATM):c.6925C>T (p.Leu2309=) rs763839047 0.00001
NM_000051.4(ATM):c.6927G>T (p.Leu2309=) rs876660429 0.00001
NM_000051.4(ATM):c.6936C>T (p.Leu2312=) rs1555119992 0.00001
NM_000051.4(ATM):c.6966C>T (p.Ser2322=) rs864622593 0.00001
NM_000051.4(ATM):c.6975+7T>A rs754834282 0.00001
NM_000051.4(ATM):c.6975+9T>C rs1290573965 0.00001
NM_000051.4(ATM):c.6976-6dup rs760058702 0.00001
NM_000051.4(ATM):c.69A>G (p.Arg23=) rs876659304 0.00001
NM_000051.4(ATM):c.7017G>A (p.Arg2339=) rs1591142466 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.7089+20C>T rs730881275 0.00001
NM_000051.4(ATM):c.7110T>C (p.Asn2370=) rs752476328 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000051.4(ATM):c.7134G>A (p.Glu2378=) rs376185463 0.00001
NM_000051.4(ATM):c.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.7209C>T (p.Asn2403=) rs373662499 0.00001
NM_000051.4(ATM):c.7221A>G (p.Ser2407=) rs786201881 0.00001
NM_000051.4(ATM):c.7266G>A (p.Glu2422=) rs876659834 0.00001
NM_000051.4(ATM):c.73-14C>G rs766284348 0.00001
NM_000051.4(ATM):c.73-15C>A rs1216989217 0.00001
NM_000051.4(ATM):c.7302A>T (p.Thr2434=) rs752125292 0.00001
NM_000051.4(ATM):c.7307+18A>C rs777909508 0.00001
NM_000051.4(ATM):c.7308-10T>G rs745319720 0.00001
NM_000051.4(ATM):c.7308-20C>T rs778603753 0.00001
NM_000051.4(ATM):c.7314A>C (p.Thr2438=) rs199909913 0.00001
NM_000051.4(ATM):c.7317A>G (p.Val2439=) rs878853542 0.00001
NM_000051.4(ATM):c.7359T>G (p.Arg2453=) rs786201541 0.00001
NM_000051.4(ATM):c.7363C>T (p.Leu2455=) rs147665149 0.00001
NM_000051.4(ATM):c.7371G>A (p.Glu2457=) rs1454725863 0.00001
NM_000051.4(ATM):c.7383C>T (p.Arg2461=) rs1429991894 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7516-15T>G rs1400642000 0.00001
NM_000051.4(ATM):c.7539A>G (p.Thr2513=) rs752294923 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.7545A>G (p.Lys2515=) rs1467809725 0.00001
NM_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.7620C>A (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7620C>T (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7629+12T>C rs373731708 0.00001
NM_000051.4(ATM):c.7629+20A>C rs2086239323 0.00001
NM_000051.4(ATM):c.7629T>C (p.Asn2543=) rs767123895 0.00001
NM_000051.4(ATM):c.762A>G (p.Leu254=) rs1313709939 0.00001
NM_000051.4(ATM):c.7630-12C>G rs911541230 0.00001
NM_000051.4(ATM):c.7630-15G>T rs773603597 0.00001
NM_000051.4(ATM):c.7630-4A>G rs1057523067 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.7707T>C (p.Asp2569=) rs1183350500 0.00001
NM_000051.4(ATM):c.7716G>C (p.Leu2572=) rs763730344 0.00001
NM_000051.4(ATM):c.7788+20G>A rs775245736 0.00001
NM_000051.4(ATM):c.7788+7G>A rs749610251 0.00001
NM_000051.4(ATM):c.7821T>C (p.Cys2607=) rs771607956 0.00001
NM_000051.4(ATM):c.7905C>T (p.Ala2635=) rs757829783 0.00001
NM_000051.4(ATM):c.7927+13T>A rs748853277 0.00001
NM_000051.4(ATM):c.7928-6A>T rs373509918 0.00001
NM_000051.4(ATM):c.7974T>C (p.Asn2658=) rs777548685 0.00001
NM_000051.4(ATM):c.8010+19_8010+20del rs1325965934 0.00001
NM_000051.4(ATM):c.8010+5T>A rs56256497 0.00001
NM_000051.4(ATM):c.8011-18T>C rs768522292 0.00001
NM_000051.4(ATM):c.8019C>T (p.His2673=) rs1181283176 0.00001
NM_000051.4(ATM):c.804A>G (p.Gln268=) rs2079766818 0.00001
NM_000051.4(ATM):c.8109T>C (p.Asp2703=) rs201689025 0.00001
NM_000051.4(ATM):c.8112T>C (p.Cys2704=) rs786201543 0.00001
NM_000051.4(ATM):c.8151+17C>G rs761029795 0.00001
NM_000051.4(ATM):c.8152-17G>A rs368924012 0.00001
NM_000051.4(ATM):c.8152-8T>A rs752705487 0.00001
NM_000051.4(ATM):c.8178T>C (p.Ala2726=) rs367575159 0.00001
NM_000051.4(ATM):c.8193C>T (p.Val2731=) rs1060504307 0.00001
NM_000051.4(ATM):c.8199G>A (p.Gln2733=) rs770552705 0.00001
NM_000051.4(ATM):c.8217G>A (p.Leu2739=) rs759069006 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=) rs758654836 0.00001
NM_000051.4(ATM):c.8268+11G>A rs769204788 0.00001
NM_000051.4(ATM):c.8268+13A>T rs1400036072 0.00001
NM_000051.4(ATM):c.8268+18T>C rs1555128701 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.834C>T (p.Val278=) rs2079769316 0.00001
NM_000051.4(ATM):c.8355T>C (p.Asp2785=) rs372834825 0.00001
NM_000051.4(ATM):c.8385T>C (p.Asp2795=) rs1251164631 0.00001
NM_000051.4(ATM):c.8418+11C>A rs1277361086 0.00001
NM_000051.4(ATM):c.8466T>C (p.Asp2822=) rs1057523224 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.8584+19T>C rs772128061 0.00001
NM_000051.4(ATM):c.8584+6C>G rs863224300 0.00001
NM_000051.4(ATM):c.8585-4C>A rs1555139447 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.8595A>T (p.Ile2865=) rs777245630 0.00001
NM_000051.4(ATM):c.8671+15C>A rs1438943849 0.00001
NM_000051.4(ATM):c.8671+17A>G rs765608446 0.00001
NM_000051.4(ATM):c.8671+19G>C rs1308810219 0.00001
NM_000051.4(ATM):c.8672-19A>T rs1381779608 0.00001
NM_000051.4(ATM):c.8676T>A (p.Val2892=) rs1401097446 0.00001
NM_000051.4(ATM):c.8709T>C (p.Pro2903=) rs773208089 0.00001
NM_000051.4(ATM):c.8751C>T (p.Gly2917=) rs779858366 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.8786+15G>A rs866338415 0.00001
NM_000051.4(ATM):c.8787-14G>A rs994348665 0.00001
NM_000051.4(ATM):c.8787-15T>C rs1057521788 0.00001
NM_000051.4(ATM):c.8787-4C>G rs944858078 0.00001
NM_000051.4(ATM):c.8820C>T (p.Asn2940=) rs775823407 0.00001
NM_000051.4(ATM):c.8844T>C (p.Ile2948=) rs878853551 0.00001
NM_000051.4(ATM):c.8847A>G (p.Val2949=) rs876658820 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8850+17G>A rs1027667991 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8851-8C>T rs768937303 0.00001
NM_000051.4(ATM):c.8859A>G (p.Leu2953=) rs773994431 0.00001
NM_000051.4(ATM):c.8871C>G (p.Leu2957=) rs1555151266 0.00001
NM_000051.4(ATM):c.8902T>C (p.Leu2968=) rs775313366 0.00001
NM_000051.4(ATM):c.8922G>A (p.Pro2974=) rs527248759 0.00001
NM_000051.4(ATM):c.8940T>G (p.Leu2980=) rs576335919 0.00001
NM_000051.4(ATM):c.8955T>C (p.Asn2985=) rs755561691 0.00001
NM_000051.4(ATM):c.8987+19A>G rs1403885730 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000051.4(ATM):c.8988-7T>G rs1487809821 0.00001
NM_000051.4(ATM):c.901+12A>G rs759379354 0.00001
NM_000051.4(ATM):c.901+7A>G rs1057523569 0.00001
NM_000051.4(ATM):c.902-22A>C rs766650801 0.00001
NM_000051.4(ATM):c.902-4A>G rs1416161750 0.00001
NM_000051.4(ATM):c.9049C>T (p.Leu3017=) rs876658991 0.00001
NM_000051.4(ATM):c.9060G>T (p.Val3020=) rs864622625 0.00001
NM_000051.4(ATM):c.9072T>G (p.Thr3024=) rs1308894113 0.00001
NM_000051.4(ATM):c.9087T>G (p.Gly3029=) rs759675675 0.00001
NM_000051.4(ATM):c.912A>G (p.Glu304=) rs1286754263 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000051.4(ATM):c.97C>T (p.Leu33=) rs1057522542 0.00001
NM_000051.4(ATM):c.993G>A (p.Lys331=) rs786202048 0.00001
NM_000051.4(ATM):c.996T>C (p.Tyr332=) rs1476261420 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000370.3(TTPA):c.381T>C (p.Phe127=) rs768075601 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000784.4(CYP27A1):c.1017+14G>A rs1196582375 0.00001
NM_000784.4(CYP27A1):c.1086C>T (p.His362=) rs139426361 0.00001
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) rs752360378 0.00001
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251 0.00001
NM_000784.4(CYP27A1):c.1185-13C>A rs772157208 0.00001
NM_000784.4(CYP27A1):c.1185-16A>G rs779178036 0.00001
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=) rs779041544 0.00001
NM_000784.4(CYP27A1):c.1263+10G>A rs775546941 0.00001
NM_000784.4(CYP27A1):c.1263+19C>A rs377513951 0.00001
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088 0.00001
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581 0.00001
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=) rs1943767251 0.00001
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945 0.00001
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=) rs755008787 0.00001
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=) rs1423547583 0.00001
NM_000784.4(CYP27A1):c.1477-18G>A rs886703307 0.00001
NM_000784.4(CYP27A1):c.1477-5C>A rs890298373 0.00001
NM_000784.4(CYP27A1):c.1477-8C>T rs1461082000 0.00001
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) rs1379650960 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=) rs1375435703 0.00001
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=) rs1943775029 0.00001
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=) rs1366418494 0.00001
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=) rs747003400 0.00001
NM_000784.4(CYP27A1):c.255+8G>A rs774689564 0.00001
NM_000784.4(CYP27A1):c.255+9C>T rs762433789 0.00001
NM_000784.4(CYP27A1):c.256-8C>A rs1416013036 0.00001
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=) rs1559391394 0.00001
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=) rs1696186258 0.00001
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=) rs1413155008 0.00001
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.446+15G>A rs775813515 0.00001
NM_000784.4(CYP27A1):c.447-7C>T rs746321278 0.00001
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=) rs988463082 0.00001
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=) rs749708223 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=) rs1943729887 0.00001
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=) rs1182190234 0.00001
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=) rs1187804477 0.00001
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854 0.00001
NM_000784.4(CYP27A1):c.69C>T (p.His23=) rs1444634924 0.00001
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=) rs1943733748 0.00001
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933 0.00001
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=) rs1224145759 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=) rs1227319154 0.00001
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860 0.00001
NM_001044385.3(TMEM237):c.1159+20G>A rs1162670210 0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328 0.00001
NM_001044385.3(TMEM237):c.136+17T>C rs1461794959 0.00001
NM_001044385.3(TMEM237):c.136+7C>T rs768764111 0.00001
NM_001044385.3(TMEM237):c.42+15G>A rs1461749315 0.00001
NM_001044385.3(TMEM237):c.43-6C>T rs886974025 0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=) rs1466574515 0.00001
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=) rs370681829 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) rs765434425 0.00001
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 0.00001
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=) rs1283583747 0.00001
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=) rs779005063 0.00001
NM_001329943.3(KIAA0586):c.1254-7C>T rs371116548 0.00001
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=) rs755857778 0.00001
NM_001329943.3(KIAA0586):c.1362+12A>G rs374756414 0.00001
NM_001329943.3(KIAA0586):c.1363-18G>A rs767847589 0.00001
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=) rs527483829 0.00001
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) rs556274091 0.00001
NM_001329943.3(KIAA0586):c.1656+11G>A rs2040060841 0.00001
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=) rs1202169940 0.00001
NM_001329943.3(KIAA0586):c.200-15C>T rs764593812 0.00001
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=) rs185266107 0.00001
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=) rs750714192 0.00001
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=) rs559438142 0.00001
NM_001329943.3(KIAA0586):c.2255-11A>G rs752712583 0.00001
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=) rs200937470 0.00001
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=) rs751246498 0.00001
NM_001329943.3(KIAA0586):c.2634+20A>G rs546773198 0.00001
NM_001329943.3(KIAA0586):c.2635-17G>T rs1478236874 0.00001
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=) rs776447854 0.00001
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=) rs527601211 0.00001
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=) rs746874985 0.00001
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn) rs3783696 0.00001
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=) rs779554669 0.00001
NM_001329943.3(KIAA0586):c.3304+19T>A rs759164063 0.00001
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=) rs765655962 0.00001
NM_001329943.3(KIAA0586):c.340+7G>T rs763185199 0.00001
NM_001329943.3(KIAA0586):c.3527+12C>T rs1369279718 0.00001
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=) rs764114899 0.00001
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=) rs780785984 0.00001
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=) rs773464253 0.00001
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=) rs1480788246 0.00001
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=) rs758690971 0.00001
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=) rs1222178512 0.00001
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=) rs755315601 0.00001
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=) rs970331206 0.00001
NM_001329943.3(KIAA0586):c.3858+8A>G rs370569855 0.00001
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=) rs1437021057 0.00001
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=) rs757412652 0.00001
NM_001329943.3(KIAA0586):c.411-1389C>T rs1490162703 0.00001
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=) rs372138430 0.00001
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=) rs2044165528 0.00001
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=) rs900262881 0.00001
NM_001329943.3(KIAA0586):c.4495+3778T>C rs1022389517 0.00001
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu) rs767347007 0.00001
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=) rs1019648840 0.00001
NM_001329943.3(KIAA0586):c.808-14C>G rs765153409 0.00001
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=) rs541197914 0.00001
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=) rs1424135868 0.00001
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00001
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=) rs185723423 0.00001
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=) rs762936059 0.00001
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=) rs765815341 0.00001
NM_001378969.1(KCND3):c.1372-6T>C rs765435324 0.00001
NM_001378969.1(KCND3):c.1462-13T>C rs766769240 0.00001
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=) rs762528364 0.00001
NM_001378969.1(KCND3):c.1518+18T>C rs377356478 0.00001
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys) rs778141653 0.00001
NM_001378969.1(KCND3):c.186G>A (p.Pro62=) rs1411627342 0.00001
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys) rs777172603 0.00001
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=) rs777559132 0.00001
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=) rs144184587 0.00001
NM_001378969.1(KCND3):c.609G>A (p.Glu203=) rs1171946587 0.00001
NM_001378969.1(KCND3):c.727C>T (p.Leu243=) rs769885163 0.00001
NM_001378969.1(KCND3):c.837C>T (p.Asn279=) rs761397595 0.00001
NM_001378969.1(KCND3):c.96C>T (p.Ala32=) rs767230824 0.00001
NM_001378969.1(KCND3):c.999C>T (p.Ile333=) rs1250316713 0.00001
NM_001379286.1(ZNF423):c.1062G>A (p.Arg354=) rs1400739360 0.00001
NM_001379286.1(ZNF423):c.1068C>T (p.Pro356=) rs765544201 0.00001
NM_001379286.1(ZNF423):c.1071C>T (p.Asp357=) rs755331543 0.00001
NM_001379286.1(ZNF423):c.1363C>T (p.Leu455=) rs1446437246 0.00001
NM_001379286.1(ZNF423):c.1377C>T (p.Pro459=) rs770488069 0.00001
NM_001379286.1(ZNF423):c.144T>C (p.Arg48=) rs1158748807 0.00001
NM_001379286.1(ZNF423):c.1461C>T (p.Ala487=) rs763866990 0.00001
NM_001379286.1(ZNF423):c.1482C>T (p.Pro494=) rs370866383 0.00001
NM_001379286.1(ZNF423):c.1491C>T (p.Phe497=) rs776964253 0.00001
NM_001379286.1(ZNF423):c.1599T>G (p.Gly533=) rs772407048 0.00001
NM_001379286.1(ZNF423):c.1623C>T (p.Thr541=) rs558769719 0.00001
NM_001379286.1(ZNF423):c.1692G>A (p.Thr564=) rs774680380 0.00001
NM_001379286.1(ZNF423):c.1773C>T (p.His591=) rs1409272182 0.00001
NM_001379286.1(ZNF423):c.1932A>G (p.Gln644=) rs765545274 0.00001
NM_001379286.1(ZNF423):c.2124A>G (p.Gln708=) rs906436103 0.00001
NM_001379286.1(ZNF423):c.2145G>A (p.Leu715=) rs371139396 0.00001
NM_001379286.1(ZNF423):c.2430A>G (p.Thr810=) rs777022783 0.00001
NM_001379286.1(ZNF423):c.2460C>T (p.Cys820=) rs1972733540 0.00001
NM_001379286.1(ZNF423):c.2596C>T (p.Leu866=) rs1312203945 0.00001
NM_001379286.1(ZNF423):c.2619C>T (p.Asn873=) rs1972716602 0.00001
NM_001379286.1(ZNF423):c.2667G>A (p.Ala889=) rs756580782 0.00001
NM_001379286.1(ZNF423):c.288C>T (p.His96=) rs1484066548 0.00001
NM_001379286.1(ZNF423):c.2910C>G (p.Pro970=) rs1972697473 0.00001
NM_001379286.1(ZNF423):c.2928C>T (p.Phe976=) rs1972696766 0.00001
NM_001379286.1(ZNF423):c.2946C>T (p.Leu982=) rs139037202 0.00001
NM_001379286.1(ZNF423):c.2952A>G (p.Glu984=) rs1288323161 0.00001
NM_001379286.1(ZNF423):c.301+19A>G rs372074855 0.00001
NM_001379286.1(ZNF423):c.3060C>T (p.Asp1020=) rs1340786585 0.00001
NM_001379286.1(ZNF423):c.3078G>A (p.Thr1026=) rs1371823655 0.00001
NM_001379286.1(ZNF423):c.3120G>A (p.Thr1040=) rs145829157 0.00001
NM_001379286.1(ZNF423):c.3261G>C (p.Leu1087=) rs150941961 0.00001
NM_001379286.1(ZNF423):c.3285G>A (p.Leu1095=) rs776338283 0.00001
NM_001379286.1(ZNF423):c.3348C>T (p.Ala1116=) rs573977564 0.00001
NM_001379286.1(ZNF423):c.3354C>T (p.Pro1118=) rs759709043 0.00001
NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu) rs756742718 0.00001
NM_001379286.1(ZNF423):c.3601+19C>A rs763174963 0.00001
NM_001379286.1(ZNF423):c.372G>A (p.Thr124=) rs374791815 0.00001
NM_001379286.1(ZNF423):c.3734-10C>T rs900395278 0.00001
NM_001379286.1(ZNF423):c.3734-15C>T rs756074378 0.00001
NM_001379286.1(ZNF423):c.3734-8G>T rs200126025 0.00001
NM_001379286.1(ZNF423):c.3738C>T (p.Phe1246=) rs1356458481 0.00001
NM_001379286.1(ZNF423):c.3774C>T (p.Ala1258=) rs767884892 0.00001
NM_001379286.1(ZNF423):c.3801C>T (p.Tyr1267=) rs773714654 0.00001
NM_001379286.1(ZNF423):c.381C>T (p.Ile127=) rs371181840 0.00001
NM_001379286.1(ZNF423):c.3878G>A (p.Ter1293=) rs1596988126 0.00001
NM_001379286.1(ZNF423):c.408C>T (p.Gly136=) rs771424265 0.00001
NM_001379286.1(ZNF423):c.507C>T (p.Ser169=) rs61738768 0.00001
NM_001379286.1(ZNF423):c.591G>A (p.Thr197=) rs528007456 0.00001
NM_001379286.1(ZNF423):c.678C>T (p.Ser226=) rs537999029 0.00001
NM_001379286.1(ZNF423):c.708G>A (p.Lys236=) rs1290446039 0.00001
NM_001379286.1(ZNF423):c.732G>A (p.Ser244=) rs977567436 0.00001
NM_001379286.1(ZNF423):c.786G>A (p.Ser262=) rs1342509044 0.00001
NM_001379286.1(ZNF423):c.849G>A (p.Thr283=) rs752433519 0.00001
NM_001379286.1(ZNF423):c.864G>A (p.Lys288=) rs201849640 0.00001
NM_001379286.1(ZNF423):c.873C>T (p.Leu291=) rs574397693 0.00001
NM_001379286.1(ZNF423):c.882C>T (p.His294=) rs370119954 0.00001
NM_001379286.1(ZNF423):c.885G>A (p.Pro295=) rs145834726 0.00001
NM_001379286.1(ZNF423):c.903G>A (p.Ala301=) rs777817106 0.00001
NM_001379286.1(ZNF423):c.936C>T (p.Phe312=) rs966177282 0.00001
NM_001379286.1(ZNF423):c.978C>T (p.His326=) rs377569533 0.00001
NM_001379286.1(ZNF423):c.993C>T (p.His331=) rs3803666 0.00001
NM_001382391.1(CSPP1):c.-112G>C rs753468929 0.00001
NM_001382391.1(CSPP1):c.-76C>T rs1261027822 0.00001
NM_001382391.1(CSPP1):c.-82G>C rs778940690 0.00001
NM_001382391.1(CSPP1):c.1023-9T>C rs1161675884 0.00001
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=) rs780635377 0.00001
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=) rs1215710015 0.00001
NM_001382391.1(CSPP1):c.1188-10T>C rs1458775172 0.00001
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=) rs182555422 0.00001
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=) rs747901737 0.00001
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=) rs756441690 0.00001
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=) rs1441641063 0.00001
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=) rs759106091 0.00001
NM_001382391.1(CSPP1):c.1827+10C>A rs757078413 0.00001
NM_001382391.1(CSPP1):c.1828-4C>A rs1064797347 0.00001
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=) rs1320611050 0.00001
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=) rs1334965098 0.00001
NM_001382391.1(CSPP1):c.199+13A>G rs756283251 0.00001
NM_001382391.1(CSPP1):c.200-15T>C rs1025519086 0.00001
NM_001382391.1(CSPP1):c.2128+17T>G rs1465446692 0.00001
NM_001382391.1(CSPP1):c.2242-19A>T rs771867162 0.00001
NM_001382391.1(CSPP1):c.2391+7C>G rs1827123471 0.00001
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=) rs775968442 0.00001
NM_001382391.1(CSPP1):c.2538+10A>G rs141325681 0.00001
NM_001382391.1(CSPP1):c.2538+11G>A rs758376225 0.00001
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=) rs780284845 0.00001
NM_001382391.1(CSPP1):c.2643+7A>G rs190584438 0.00001
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=) rs763958350 0.00001
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=) rs778144204 0.00001
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=) rs1324539056 0.00001
NM_001382391.1(CSPP1):c.2829-4A>G rs752142812 0.00001
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=) rs567550598 0.00001
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=) rs761971816 0.00001
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=) rs1810339109 0.00001
NM_001382391.1(CSPP1):c.303+7A>G rs1810343333 0.00001
NM_001382391.1(CSPP1):c.3109+20G>A rs373555747 0.00001
NM_001382391.1(CSPP1):c.3156+16C>A rs773054384 0.00001
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) rs769247285 0.00001
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) rs1040715506 0.00001
NM_001382391.1(CSPP1):c.3675T>C (p.His1225=) rs376255546 0.00001
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=) rs760017432 0.00001
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=) rs757510042 0.00001
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=) rs374780184 0.00001
NM_001382391.1(CSPP1):c.738T>C (p.His246=) rs773951141 0.00001
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=) rs1446123007 0.00001
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=) rs749203075 0.00001
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=) rs781654995 0.00001
NM_002739.5(PRKCG):c.*48G>A rs775600229 0.00001
NM_003640.5(ELP1):c.1190-4G>A rs774965847 0.00001
NM_003640.5(ELP1):c.1263A>G (p.Pro421=) rs371100951 0.00001
NM_003640.5(ELP1):c.1909-17C>G rs373498962 0.00001
NM_003640.5(ELP1):c.2460C>T (p.Cys820=) rs181121832 0.00001
NM_003640.5(ELP1):c.2547A>G (p.Pro849=) rs764837607 0.00001
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612 0.00001
NM_003640.5(ELP1):c.2847C>T (p.His949=) rs529456133 0.00001
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=) rs112178985 0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) rs201242444 0.00001
NM_003640.5(ELP1):c.3855+18C>T rs557015443 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=) rs747246135 0.00001
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00001
NM_006796.3(AFG3L2):c.2175+14G>A rs758755215 0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_014363.6(SACS):c.11535A>G (p.Glu3845=) rs750167647 0.00001
NM_014363.6(SACS):c.12606A>C (p.Thr4202=) rs780674369 0.00001
NM_014363.6(SACS):c.13119C>T (p.Asp4373=) rs368124828 0.00001
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.1683G>A (p.Val561=) rs1485932032 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712 0.00001
NM_014363.6(SACS):c.2278T>C (p.Leu760=) rs770454726 0.00001
NM_014363.6(SACS):c.2830T>C (p.Leu944=) rs1348417682 0.00001
NM_014363.6(SACS):c.3096G>A (p.Glu1032=) rs529746813 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.8922A>G (p.Leu2974=) rs563864403 0.00001
NM_014363.6(SACS):c.8931A>G (p.Leu2977=) rs376228714 0.00001
NM_015046.7(SETX):c.*2232T>C rs545456048 0.00001
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr) rs778488721 0.00001
NM_015046.7(SETX):c.1479C>T (p.Ala493=) rs771289068 0.00001
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979 0.00001
NM_015046.7(SETX):c.172C>T (p.His58Tyr) rs757760067 0.00001
NM_015046.7(SETX):c.177+18G>A rs201574662 0.00001
NM_015046.7(SETX):c.1833A>G (p.Ala611=) rs751829537 0.00001
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702 0.00001
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu) rs776432277 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2552A>T (p.Asp851Val) rs375242350 0.00001
NM_015046.7(SETX):c.27A>G (p.Pro9=) rs761487448 0.00001
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly) rs1354775471 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.3018A>C (p.Gly1006=) rs997364371 0.00001
NM_015046.7(SETX):c.304A>G (p.Thr102Ala) rs770962447 0.00001
NM_015046.7(SETX):c.3099C>T (p.Leu1033=) rs755461440 0.00001
NM_015046.7(SETX):c.3294C>T (p.Asp1098=) rs61732723 0.00001
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr) rs545072717 0.00001
NM_015046.7(SETX):c.3351T>C (p.Thr1117=) rs1846972454 0.00001
NM_015046.7(SETX):c.3525G>A (p.Arg1175=) rs1353053473 0.00001
NM_015046.7(SETX):c.3603T>C (p.Ile1201=) rs565774066 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.3723C>A (p.Thr1241=) rs367828971 0.00001
NM_015046.7(SETX):c.372T>G (p.Leu124=) rs1263479038 0.00001
NM_015046.7(SETX):c.3780A>G (p.Leu1260=) rs375854407 0.00001
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val) rs764516725 0.00001
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253 0.00001
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys) rs760272692 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) rs756823072 0.00001
NM_015046.7(SETX):c.4283A>G (p.His1428Arg) rs778236359 0.00001
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) rs759545112 0.00001
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839 0.00001
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668 0.00001
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu) rs1165229035 0.00001
NM_015046.7(SETX):c.484C>T (p.His162Tyr) rs1186709340 0.00001
NM_015046.7(SETX):c.4860T>G (p.Leu1620=) rs758938142 0.00001
NM_015046.7(SETX):c.4872A>G (p.Leu1624=) rs567475841 0.00001
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro) rs142509544 0.00001
NM_015046.7(SETX):c.4971T>C (p.Asn1657=) rs1159266524 0.00001
NM_015046.7(SETX):c.499-10C>T rs1444405452 0.00001
NM_015046.7(SETX):c.499-9T>C rs760214195 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5548+17G>A rs1313333580 0.00001
NM_015046.7(SETX):c.5719C>T (p.Leu1907=) rs767373911 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5782-6A>G rs781129157 0.00001
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser) rs762791927 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5950-14G>A rs375632375 0.00001
NM_015046.7(SETX):c.5970A>G (p.Ser1990=) rs1844648216 0.00001
NM_015046.7(SETX):c.5973C>T (p.Asp1991=) rs1210056357 0.00001
NM_015046.7(SETX):c.6024T>C (p.Pro2008=) rs1045096306 0.00001
NM_015046.7(SETX):c.6106+13T>C rs370909687 0.00001
NM_015046.7(SETX):c.6107-5A>G rs1284217475 0.00001
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) rs200269892 0.00001
NM_015046.7(SETX):c.6474T>C (p.Ser2158=) rs1216377543 0.00001
NM_015046.7(SETX):c.6546+18C>G rs915871195 0.00001
NM_015046.7(SETX):c.6654+12A>G rs1015821444 0.00001
NM_015046.7(SETX):c.6771G>A (p.Gln2257=) rs778895541 0.00001
NM_015046.7(SETX):c.6804T>A (p.Pro2268=) rs145236863 0.00001
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr) rs1421665944 0.00001
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly) rs370135596 0.00001
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) rs141657462 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163 0.00001
NM_015046.7(SETX):c.765C>A (p.Ser255=) rs774297687 0.00001
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) rs775579797 0.00001
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576 0.00001
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T rs934455196 0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=) rs1239622461 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_016169.4(SUFU):c.1005C>T (p.Leu335=) rs575246362 0.00001
NM_016169.4(SUFU):c.1011C>T (p.His337=) rs747747662 0.00001
NM_016169.4(SUFU):c.1022+12A>G rs2063496960 0.00001
NM_016169.4(SUFU):c.1022+14T>C rs758576759 0.00001
NM_016169.4(SUFU):c.1022+16T>C rs764272302 0.00001
NM_016169.4(SUFU):c.1023-16T>C rs762717407 0.00001
NM_016169.4(SUFU):c.1023-18C>A rs892399500 0.00001
NM_016169.4(SUFU):c.1089G>A (p.Thr363=) rs1438357532 0.00001
NM_016169.4(SUFU):c.1089G>T (p.Thr363=) rs1438357532 0.00001
NM_016169.4(SUFU):c.1104C>T (p.Ser368=) rs746580970 0.00001
NM_016169.4(SUFU):c.1131C>T (p.Ser377=) rs775396007 0.00001
NM_016169.4(SUFU):c.1146T>G (p.Pro382=) rs1159204850 0.00001
NM_016169.4(SUFU):c.1157+14C>A rs2063675828 0.00001
NM_016169.4(SUFU):c.1157+6C>T rs535323089 0.00001
NM_016169.4(SUFU):c.1158-8A>G rs749166919 0.00001
NM_016169.4(SUFU):c.1176A>G (p.Gly392=) rs771819487 0.00001
NM_016169.4(SUFU):c.1188A>C (p.Thr396=) rs1418070936 0.00001
NM_016169.4(SUFU):c.1191T>C (p.Tyr397=) rs895235845 0.00001
NM_016169.4(SUFU):c.1218C>A (p.Ile406=) rs1416629342 0.00001
NM_016169.4(SUFU):c.1227C>G (p.Val409=) rs753190647 0.00001
NM_016169.4(SUFU):c.123C>T (p.Cys41=) rs1412892420 0.00001
NM_016169.4(SUFU):c.1275G>A (p.Ala425=) rs771832461 0.00001
NM_016169.4(SUFU):c.1296+9G>T rs759664715 0.00001
NM_016169.4(SUFU):c.1317T>C (p.Phe439=) rs748603932 0.00001
NM_016169.4(SUFU):c.135C>T (p.Tyr45=) rs1342856960 0.00001
NM_016169.4(SUFU):c.1362G>A (p.Glu454=) rs771380823 0.00001
NM_016169.4(SUFU):c.1365+13G>C rs1370046167 0.00001
NM_016169.4(SUFU):c.1366-18T>C rs778922691 0.00001
NM_016169.4(SUFU):c.1366-4A>G rs201139426 0.00001
NM_016169.4(SUFU):c.1386C>T (p.Tyr462=) rs2063824214 0.00001
NM_016169.4(SUFU):c.1455G>A (p.Ter485=) rs773021913 0.00001
NM_016169.4(SUFU):c.182+11G>A rs766984305 0.00001
NM_016169.4(SUFU):c.182+8C>G rs751208244 0.00001
NM_016169.4(SUFU):c.252C>A (p.Ile84=) rs1437282528 0.00001
NM_016169.4(SUFU):c.267C>T (p.His89=) rs1236109627 0.00001
NM_016169.4(SUFU):c.279C>T (p.Phe93=) rs770218907 0.00001
NM_016169.4(SUFU):c.300T>A (p.Gly100=) rs775876798 0.00001
NM_016169.4(SUFU):c.30C>T (p.Pro10=) rs1315277679 0.00001
NM_016169.4(SUFU):c.317+15C>A rs760470575 0.00001
NM_016169.4(SUFU):c.318-11A>C rs1485269392 0.00001
NM_016169.4(SUFU):c.318-7C>G rs751778806 0.00001
NM_016169.4(SUFU):c.363C>A (p.Thr121=) rs910976342 0.00001
NM_016169.4(SUFU):c.444G>A (p.Val148=) rs757424197 0.00001
NM_016169.4(SUFU):c.454+11dup rs756465918 0.00001
NM_016169.4(SUFU):c.45C>T (p.Pro15=) rs767543227 0.00001
NM_016169.4(SUFU):c.477C>T (p.Asp159=) rs2063415176 0.00001
NM_016169.4(SUFU):c.480T>C (p.His160=) rs1308247295 0.00001
NM_016169.4(SUFU):c.561C>T (p.Pro187=) rs769503197 0.00001
NM_016169.4(SUFU):c.579G>A (p.Gly193=) rs1590061953 0.00001
NM_016169.4(SUFU):c.591C>T (p.Phe197=) rs748830496 0.00001
NM_016169.4(SUFU):c.597+12G>T rs200418460 0.00001
NM_016169.4(SUFU):c.597+18C>T rs761796540 0.00001
NM_016169.4(SUFU):c.598-12C>T rs768142814 0.00001
NM_016169.4(SUFU):c.609C>T (p.Val203=) rs1267238528 0.00001
NM_016169.4(SUFU):c.615T>C (p.Thr205=) rs1187200623 0.00001
NM_016169.4(SUFU):c.683+12T>C rs1164701799 0.00001
NM_016169.4(SUFU):c.683+17G>A rs1027742260 0.00001
NM_016169.4(SUFU):c.684-12C>T rs1211187751 0.00001
NM_016169.4(SUFU):c.684-9T>C rs746032665 0.00001
NM_016169.4(SUFU):c.690C>T (p.Gly230=) rs775675385 0.00001
NM_016169.4(SUFU):c.693C>A (p.Gly231=) rs200885602 0.00001
NM_016169.4(SUFU):c.726G>A (p.Glu242=) rs1166474720 0.00001
NM_016169.4(SUFU):c.753G>A (p.Leu251=) rs2063435526 0.00001
NM_016169.4(SUFU):c.756+10G>C rs764838079 0.00001
NM_016169.4(SUFU):c.756A>G (p.Gln252=) rs1317467424 0.00001
NM_016169.4(SUFU):c.843C>T (p.Pro281=) rs1590066015 0.00001
NM_016169.4(SUFU):c.846C>T (p.Pro282=) rs762558038 0.00001
NM_016169.4(SUFU):c.849G>A (p.Glu283=) rs751057597 0.00001
NM_016169.4(SUFU):c.84G>T (p.Ser28=) rs376752468 0.00001
NM_016169.4(SUFU):c.894G>T (p.Arg298=) rs372636246 0.00001
NM_016169.4(SUFU):c.910+20A>G rs1442018997 0.00001
NM_016169.4(SUFU):c.910+8C>G rs1159461161 0.00001
NM_016169.4(SUFU):c.910+9C>T rs998413406 0.00001
NM_016169.4(SUFU):c.911-19C>T rs1053684007 0.00001
NM_016169.4(SUFU):c.933C>A (p.Thr311=) rs767071744 0.00001
NM_016169.4(SUFU):c.948C>G (p.Leu316=) rs1236947004 0.00001
NM_016169.4(SUFU):c.96G>A (p.Pro32=) rs1483435746 0.00001
NM_016169.4(SUFU):c.975A>G (p.Pro325=) rs1045258578 0.00001
NM_016169.4(SUFU):c.987T>C (p.Pro329=) rs906267027 0.00001
NM_016169.4(SUFU):c.9G>A (p.Glu3=) rs561651427 0.00001
NM_016373.4(WWOX):c.1057-18T>G rs780546419 0.00001
NM_016373.4(WWOX):c.107+12G>T rs753626622 0.00001
NM_016373.4(WWOX):c.107+16T>G rs1313734754 0.00001
NM_016373.4(WWOX):c.1107G>A (p.Glu369=) rs369673368 0.00001
NM_016373.4(WWOX):c.1143C>T (p.Arg381=) rs1427739406 0.00001
NM_016373.4(WWOX):c.1158A>G (p.Pro386=) rs755586346 0.00001
NM_016373.4(WWOX):c.117G>A (p.Glu39=) rs368245025 0.00001
NM_016373.4(WWOX):c.1227T>C (p.Leu409=) rs1370851633 0.00001
NM_016373.4(WWOX):c.172+7A>G rs1307853735 0.00001
NM_016373.4(WWOX):c.173-9G>A rs768579025 0.00001
NM_016373.4(WWOX):c.216A>G (p.Gln72=) rs754962104 0.00001
NM_016373.4(WWOX):c.222T>C (p.Phe74=) rs748079925 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.231-20C>G rs768620458 0.00001
NM_016373.4(WWOX):c.231-6G>T rs987981847 0.00001
NM_016373.4(WWOX):c.24G>A (p.Gly8=) rs960284644 0.00001
NM_016373.4(WWOX):c.273G>A (p.Ala91=) rs778288592 0.00001
NM_016373.4(WWOX):c.303A>G (p.Pro101=) rs761783544 0.00001
NM_016373.4(WWOX):c.372C>A (p.Gly124=) rs1427515892 0.00001
NM_016373.4(WWOX):c.410-19A>G rs201778955 0.00001
NM_016373.4(WWOX):c.567C>T (p.Ser189=) rs201593515 0.00001
NM_016373.4(WWOX):c.579T>C (p.Phe193=) rs554077107 0.00001
NM_016373.4(WWOX):c.605+10C>G rs201186695 0.00001
NM_016373.4(WWOX):c.605+11C>T rs1271857180 0.00001
NM_016373.4(WWOX):c.605+19G>A rs199843934 0.00001
NM_016373.4(WWOX):c.606-16A>G rs139257288 0.00001
NM_016373.4(WWOX):c.678G>A (p.Glu226=) rs750905852 0.00001
NM_016373.4(WWOX):c.78C>T (p.Thr26=) rs761493229 0.00001
NM_016373.4(WWOX):c.791+11A>G rs779754174 0.00001
NM_016373.4(WWOX):c.843T>A (p.Ser281=) rs367855242 0.00001
NM_016373.4(WWOX):c.866C>T (p.Ala289Val) rs753894507 0.00001
NM_016373.4(WWOX):c.906C>T (p.Leu302=) rs377404672 0.00001
NM_016373.4(WWOX):c.945G>A (p.Gly315=) rs1232491002 0.00001
NM_016373.4(WWOX):c.948C>G (p.Val316=) rs201986739 0.00001
NM_016373.4(WWOX):c.954G>A (p.Ser318=) rs971458936 0.00001
NM_016373.4(WWOX):c.999C>T (p.Arg333=) rs774462234 0.00001
NM_016373.4(WWOX):c.99C>T (p.Tyr33=) rs760762887 0.00001
NM_016373.4(WWOX):c.9G>C (p.Ala3=) rs778036247 0.00001
NM_016464.5(TMEM138):c.129-18T>A rs1181378192 0.00001
NM_016464.5(TMEM138):c.129-20A>T rs1477684645 0.00001
NM_016464.5(TMEM138):c.129-8G>T rs1438561210 0.00001
NM_016464.5(TMEM138):c.276C>T (p.Ser92=) rs756828257 0.00001
NM_016464.5(TMEM138):c.300+17G>A rs1858147311 0.00001
NM_016464.5(TMEM138):c.301-9C>A rs764884921 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_018718.3(CEP41):c.1053C>T (p.Gly351=) rs782191360 0.00001
NM_018718.3(CEP41):c.146-18T>C rs202065857 0.00001
NM_018718.3(CEP41):c.165T>C (p.Asp55=) rs782085186 0.00001
NM_018718.3(CEP41):c.186A>G (p.Lys62=) rs1797202624 0.00001
NM_018718.3(CEP41):c.208-17A>G rs1374383852 0.00001
NM_018718.3(CEP41):c.384C>T (p.Asn128=) rs374535389 0.00001
NM_018718.3(CEP41):c.423-8A>G rs1796893817 0.00001
NM_018718.3(CEP41):c.643-12T>C rs782521409 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.3(CEP41):c.696C>T (p.Ala232=) rs1796819118 0.00001
NM_018718.3(CEP41):c.705G>A (p.Ala235=) rs149052906 0.00001
NM_018718.3(CEP41):c.741C>T (p.Leu247=) rs781822221 0.00001
NM_018718.3(CEP41):c.753C>T (p.Ser251=) rs200612684 0.00001
NM_018718.3(CEP41):c.973+11T>C rs781847285 0.00001
NM_018718.3(CEP41):c.973+15C>T rs979158941 0.00001
NM_018718.3(CEP41):c.974-8C>T rs367692258 0.00001
NM_020247.5(COQ8A):c.1399-12C>T rs377529632 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg) rs568256888 0.00001
NM_022464.5(SIL1):c.1005G>A (p.Leu335=) rs751082361 0.00001
NM_022464.5(SIL1):c.1347G>A (p.Leu449=) rs1458642130 0.00001
NM_022464.5(SIL1):c.69C>T (p.Ala23=) rs756893810 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
NM_022464.5(SIL1):c.807C>T (p.Ala269=) rs200359743 0.00001
NM_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=) rs374183249 0.00001
NM_025114.4(CEP290):c.6270+19A>G rs1181927624 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_032856.5(WDR73):c.816T>C (p.Pro272=) rs374742538 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_182961.4(SYNE1):c.10206C>T (p.Ser3402=) rs1158144490 0.00001
NM_182961.4(SYNE1):c.10318C>T (p.Leu3440=) rs997731221 0.00001
NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=) rs759403120 0.00001
NM_182961.4(SYNE1):c.10608+20A>G rs370822005 0.00001
NM_182961.4(SYNE1):c.10620A>G (p.Val3540=) rs1308068026 0.00001
NM_182961.4(SYNE1):c.10836A>G (p.Glu3612=) rs147021971 0.00001
NM_182961.4(SYNE1):c.10927-18G>A rs759603128 0.00001
NM_182961.4(SYNE1):c.10953C>T (p.Tyr3651=) rs779741109 0.00001
NM_182961.4(SYNE1):c.11031C>T (p.Cys3677=) rs2096781049 0.00001
NM_182961.4(SYNE1):c.11083-8T>C rs752554466 0.00001
NM_182961.4(SYNE1):c.11083-9C>T rs758255035 0.00001
NM_182961.4(SYNE1):c.1110A>G (p.Gln370=) rs756294096 0.00001
NM_182961.4(SYNE1):c.11412C>T (p.Val3804=) rs777170937 0.00001
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=) rs746623465 0.00001
NM_182961.4(SYNE1):c.11581-19T>C rs1193068464 0.00001
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=) rs960254266 0.00001
NM_182961.4(SYNE1):c.12039A>C (p.Thr4013=) rs1190890349 0.00001
NM_182961.4(SYNE1):c.12079-4T>C rs749035276 0.00001
NM_182961.4(SYNE1):c.12171G>A (p.Pro4057=) rs112128801 0.00001
NM_182961.4(SYNE1):c.12352-19A>G rs535649438 0.00001
NM_182961.4(SYNE1):c.12435C>T (p.Tyr4145=) rs1167024658 0.00001
NM_182961.4(SYNE1):c.12687C>T (p.Cys4229=) rs755451612 0.00001
NM_182961.4(SYNE1):c.12794+18A>T rs780721542 0.00001
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=) rs749626940 0.00001
NM_182961.4(SYNE1):c.12883C>T (p.Leu4295=) rs781279526 0.00001
NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=) rs968884551 0.00001
NM_182961.4(SYNE1):c.1299G>A (p.Gln433=) rs1224893756 0.00001
NM_182961.4(SYNE1):c.13032G>A (p.Glu4344=) rs1053180393 0.00001
NM_182961.4(SYNE1):c.13320A>G (p.Leu4440=) rs374787261 0.00001
NM_182961.4(SYNE1):c.13368C>T (p.Thr4456=) rs141847989 0.00001
NM_182961.4(SYNE1):c.13467G>A (p.Val4489=) rs1166201006 0.00001
NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=) rs758900989 0.00001
NM_182961.4(SYNE1):c.1350+13G>A rs994953289 0.00001
NM_182961.4(SYNE1):c.13596G>T (p.Val4532=) rs886043332 0.00001
NM_182961.4(SYNE1):c.13695G>A (p.Lys4565=) rs530630718 0.00001
NM_182961.4(SYNE1):c.13710T>C (p.Asp4570=) rs563207771 0.00001
NM_182961.4(SYNE1):c.13827T>G (p.Leu4609=) rs1415812565 0.00001
NM_182961.4(SYNE1):c.13878G>A (p.Gly4626=) rs147931555 0.00001
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=) rs778820710 0.00001
NM_182961.4(SYNE1):c.14187G>A (p.Ala4729=) rs886042872 0.00001
NM_182961.4(SYNE1):c.141A>G (p.Pro47=) rs551171550 0.00001
NM_182961.4(SYNE1):c.14274A>G (p.Leu4758=) rs1454377562 0.00001
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=) rs758516967 0.00001
NM_182961.4(SYNE1):c.14628G>A (p.Val4876=) rs772957773 0.00001
NM_182961.4(SYNE1):c.15057A>G (p.Ala5019=) rs1462308045 0.00001
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=) rs772100783 0.00001
NM_182961.4(SYNE1):c.15165G>C (p.Leu5055=) rs760844118 0.00001
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=) rs370314344 0.00001
NM_182961.4(SYNE1):c.15294-16G>A rs762945450 0.00001
NM_182961.4(SYNE1):c.15312C>T (p.His5104=) rs144173352 0.00001
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=) rs780437149 0.00001
NM_182961.4(SYNE1):c.15370T>C (p.Leu5124=) rs758423743 0.00001
NM_182961.4(SYNE1):c.15658-20G>T rs901508795 0.00001
NM_182961.4(SYNE1):c.1590C>T (p.Tyr530=) rs369178017 0.00001
NM_182961.4(SYNE1):c.15917+9G>A rs779265988 0.00001
NM_182961.4(SYNE1):c.16237-10A>T rs201078255 0.00001
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=) rs142704460 0.00001
NM_182961.4(SYNE1):c.16573-9G>T rs768173115 0.00001
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=) rs142010074 0.00001
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys) rs570556738 0.00001
NM_182961.4(SYNE1):c.16956G>A (p.Gln5652=) rs1455225493 0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608 0.00001
NM_182961.4(SYNE1):c.17020-16G>A rs745471011 0.00001
NM_182961.4(SYNE1):c.17097C>T (p.Pro5699=) rs769890058 0.00001
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=) rs1194006323 0.00001
NM_182961.4(SYNE1):c.17229T>C (p.Tyr5743=) rs377344899 0.00001
NM_182961.4(SYNE1):c.1729+8A>G rs188999515 0.00001
NM_182961.4(SYNE1):c.17347-16G>C rs200637611 0.00001
NM_182961.4(SYNE1):c.17487G>A (p.Glu5829=) rs963252462 0.00001
NM_182961.4(SYNE1):c.17533G>A (p.Val5845Met) rs535699185 0.00001
NM_182961.4(SYNE1):c.17562C>T (p.His5854=) rs771992733 0.00001
NM_182961.4(SYNE1):c.17682+7C>T rs1453568721 0.00001
NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=) rs550385131 0.00001
NM_182961.4(SYNE1):c.17775T>C (p.Tyr5925=) rs756831138 0.00001
NM_182961.4(SYNE1):c.17781G>A (p.Pro5927=) rs770484710 0.00001
NM_182961.4(SYNE1):c.17851-7G>T rs776806501 0.00001
NM_182961.4(SYNE1):c.17943C>A (p.Ala5981=) rs201436749 0.00001
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=) rs749375364 0.00001
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726 0.00001
NM_182961.4(SYNE1):c.18189G>C (p.Gly6063=) rs1025895913 0.00001
NM_182961.4(SYNE1):c.18228G>A (p.Leu6076=) rs1188706681 0.00001
NM_182961.4(SYNE1):c.18249G>A (p.Gln6083=) rs748739828 0.00001
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=) rs148518750 0.00001
NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=) rs769588658 0.00001
NM_182961.4(SYNE1):c.18574-4G>C rs767063118 0.00001
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641 0.00001
NM_182961.4(SYNE1):c.18663C>T (p.Thr6221=) rs771466788 0.00001
NM_182961.4(SYNE1):c.1875G>A (p.Leu625=) rs908412593 0.00001
NM_182961.4(SYNE1):c.18813T>C (p.Ala6271=) rs368818393 0.00001
NM_182961.4(SYNE1):c.1887A>G (p.Leu629=) rs972467458 0.00001
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357 0.00001
NM_182961.4(SYNE1):c.19086C>T (p.Phe6362=) rs749565347 0.00001
NM_182961.4(SYNE1):c.1932+7T>C rs754738610 0.00001
NM_182961.4(SYNE1):c.19683C>G (p.Ser6561=) rs1463559492 0.00001
NM_182961.4(SYNE1):c.19719C>T (p.Ile6573=) rs1437801725 0.00001
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=) rs776418227 0.00001
NM_182961.4(SYNE1):c.19894-11A>C rs1388264961 0.00001
NM_182961.4(SYNE1):c.20068-20G>A rs769554267 0.00001
NM_182961.4(SYNE1):c.20178T>C (p.Ile6726=) rs1588441873 0.00001
NM_182961.4(SYNE1):c.20295A>G (p.Leu6765=) rs1180529553 0.00001
NM_182961.4(SYNE1):c.20517A>G (p.Leu6839=) rs1428729266 0.00001
NM_182961.4(SYNE1):c.20530-10C>T rs1562379182 0.00001
NM_182961.4(SYNE1):c.20553C>T (p.Ala6851=) rs969664934 0.00001
NM_182961.4(SYNE1):c.20691C>T (p.Ala6897=) rs775882254 0.00001
NM_182961.4(SYNE1):c.20955G>A (p.Lys6985=) rs138024258 0.00001
NM_182961.4(SYNE1):c.20964T>C (p.Asp6988=) rs1361567937 0.00001
NM_182961.4(SYNE1):c.21352-19T>C rs1316209013 0.00001
NM_182961.4(SYNE1):c.21426A>T (p.Ile7142=) rs775691059 0.00001
NM_182961.4(SYNE1):c.21523-19G>A rs1480392957 0.00001
NM_182961.4(SYNE1):c.21657-19T>C rs993085792 0.00001
NM_182961.4(SYNE1):c.21663T>C (p.Asn7221=) rs1413291850 0.00001
NM_182961.4(SYNE1):c.21702C>T (p.Ser7234=) rs763751486 0.00001
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=) rs775672135 0.00001
NM_182961.4(SYNE1):c.2175G>A (p.Thr725=) rs1023357286 0.00001
NM_182961.4(SYNE1):c.21825C>T (p.Ala7275=) rs746044264 0.00001
NM_182961.4(SYNE1):c.21862-4C>T rs772311271 0.00001
NM_182961.4(SYNE1):c.22045-17C>A rs750865625 0.00001
NM_182961.4(SYNE1):c.22260A>G (p.Leu7420=) rs900883985 0.00001
NM_182961.4(SYNE1):c.22263C>T (p.Pro7421=) rs774062465 0.00001
NM_182961.4(SYNE1):c.22308T>C (p.His7436=) rs538357613 0.00001
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568 0.00001
NM_182961.4(SYNE1):c.22557A>G (p.Gln7519=) rs779555194 0.00001
NM_182961.4(SYNE1):c.22770C>T (p.Leu7590=) rs765032226 0.00001
NM_182961.4(SYNE1):c.22824+19T>C rs367932651 0.00001
NM_182961.4(SYNE1):c.22825-14A>G rs201610447 0.00001
NM_182961.4(SYNE1):c.22887G>A (p.Lys7629=) rs780771518 0.00001
NM_182961.4(SYNE1):c.22914C>T (p.Gly7638=) rs772920041 0.00001
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=) rs747134735 0.00001
NM_182961.4(SYNE1):c.23100C>T (p.Leu7700=) rs1020807218 0.00001
NM_182961.4(SYNE1):c.23148A>G (p.Glu7716=) rs768057206 0.00001
NM_182961.4(SYNE1):c.23190G>A (p.Gln7730=) rs370445850 0.00001
NM_182961.4(SYNE1):c.23271G>A (p.Leu7757=) rs993878825 0.00001
NM_182961.4(SYNE1):c.23301+10G>A rs113526858 0.00001
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=) rs780485635 0.00001
NM_182961.4(SYNE1):c.23460+10G>A rs376484866 0.00001
NM_182961.4(SYNE1):c.23628-20T>C rs1242408253 0.00001
NM_182961.4(SYNE1):c.23703C>T (p.Leu7901=) rs998453025 0.00001
NM_182961.4(SYNE1):c.23791-5T>C rs2061329366 0.00001
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=) rs572195368 0.00001
NM_182961.4(SYNE1):c.2412C>T (p.Ser804=) rs1384388900 0.00001
NM_182961.4(SYNE1):c.24273C>T (p.Asn8091=) rs774885671 0.00001
NM_182961.4(SYNE1):c.24330T>C (p.Arg8110=) rs994710536 0.00001
NM_182961.4(SYNE1):c.24420T>C (p.Cys8140=) rs1437033330 0.00001
NM_182961.4(SYNE1):c.24423T>C (p.Asp8141=) rs1257978665 0.00001
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=) rs755622688 0.00001
NM_182961.4(SYNE1):c.24552C>T (p.Ile8184=) rs563494219 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.24613A>C (p.Arg8205=) rs779904585 0.00001
NM_182961.4(SYNE1):c.24618C>T (p.Tyr8206=) rs373486168 0.00001
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=) rs201078523 0.00001
NM_182961.4(SYNE1):c.24771C>T (p.Leu8257=) rs2059847697 0.00001
NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=) rs754900484 0.00001
NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=) rs794727110 0.00001
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=) rs753367709 0.00001
NM_182961.4(SYNE1):c.25032T>C (p.Asp8344=) rs779618522 0.00001
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102 0.00001
NM_182961.4(SYNE1):c.25062T>C (p.Asn8354=) rs765407593 0.00001
NM_182961.4(SYNE1):c.25246+8C>T rs760126474 0.00001
NM_182961.4(SYNE1):c.25362C>T (p.Ala8454=) rs773341728 0.00001
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299 0.00001
NM_182961.4(SYNE1):c.25789-12T>G rs775060646 0.00001
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=) rs751355623 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=) rs529628600 0.00001
NM_182961.4(SYNE1):c.2661C>T (p.Asn887=) rs780865643 0.00001
NM_182961.4(SYNE1):c.2685G>A (p.Thr895=) rs754176545 0.00001
NM_182961.4(SYNE1):c.2727+8G>T rs112473275 0.00001
NM_182961.4(SYNE1):c.2892+7C>T rs1372175734 0.00001
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355 0.00001
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=) rs770801617 0.00001
NM_182961.4(SYNE1):c.310-11T>G rs1241486044 0.00001
NM_182961.4(SYNE1):c.3387C>T (p.Tyr1129=) rs561575834 0.00001
NM_182961.4(SYNE1):c.3396-15C>T rs535421518 0.00001
NM_182961.4(SYNE1):c.3462C>T (p.Ala1154=) rs1485702967 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_182961.4(SYNE1):c.384C>G (p.Thr128=) rs773315965 0.00001
NM_182961.4(SYNE1):c.3912G>T (p.Gly1304=) rs199595574 0.00001
NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=) rs765010255 0.00001
NM_182961.4(SYNE1):c.4462-7C>A rs776393742 0.00001
NM_182961.4(SYNE1):c.4809G>A (p.Glu1603=) rs758316270 0.00001
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_182961.4(SYNE1):c.5037T>C (p.Ser1679=) rs1010531718 0.00001
NM_182961.4(SYNE1):c.5088T>G (p.Leu1696=) rs767477486 0.00001
NM_182961.4(SYNE1):c.5220G>A (p.Glu1740=) rs751765439 0.00001
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=) rs587780469 0.00001
NM_182961.4(SYNE1):c.5422-7C>T rs757136765 0.00001
NM_182961.4(SYNE1):c.5556G>A (p.Leu1852=) rs762111366 0.00001
NM_182961.4(SYNE1):c.600A>T (p.Val200=) rs781563259 0.00001
NM_182961.4(SYNE1):c.6027T>A (p.Pro2009=) rs1181492707 0.00001
NM_182961.4(SYNE1):c.6051-15C>A rs199794081 0.00001
NM_182961.4(SYNE1):c.6051-6T>C rs1171413264 0.00001
NM_182961.4(SYNE1):c.6231-7A>G rs368858186 0.00001
NM_182961.4(SYNE1):c.6291T>C (p.Ala2097=) rs767090248 0.00001
NM_182961.4(SYNE1):c.6381+15G>A rs1316706320 0.00001
NM_182961.4(SYNE1):c.6402A>G (p.Lys2134=) rs182732645 0.00001
NM_182961.4(SYNE1):c.6540+11C>T rs765474841 0.00001
NM_182961.4(SYNE1):c.6591C>T (p.Ser2197=) rs190301879 0.00001
NM_182961.4(SYNE1):c.6720T>C (p.Phe2240=) rs758841233 0.00001
NM_182961.4(SYNE1):c.6724-6T>C rs1441438677 0.00001
NM_182961.4(SYNE1):c.679T>C (p.Leu227=) rs374438652 0.00001
NM_182961.4(SYNE1):c.6813G>A (p.Pro2271=) rs138911730 0.00001
NM_182961.4(SYNE1):c.6A>C (p.Ala2=) rs757033067 0.00001
NM_182961.4(SYNE1):c.7218T>C (p.Ser2406=) rs947558246 0.00001
NM_182961.4(SYNE1):c.7267T>C (p.Leu2423=) rs968854661 0.00001
NM_182961.4(SYNE1):c.738C>T (p.Ala246=) rs370211240 0.00001
NM_182961.4(SYNE1):c.7434T>C (p.Ser2478=) rs1340757793 0.00001
NM_182961.4(SYNE1):c.7545A>G (p.Ser2515=) rs747473998 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_182961.4(SYNE1):c.7704G>T (p.Leu2568=) rs766042710 0.00001
NM_182961.4(SYNE1):c.7737G>A (p.Gln2579=) rs1275065218 0.00001
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=) rs748909185 0.00001
NM_182961.4(SYNE1):c.8004+9G>A rs539649819 0.00001
NM_182961.4(SYNE1):c.801T>C (p.Asp267=) rs1211961286 0.00001
NM_182961.4(SYNE1):c.8041T>C (p.Leu2681=) rs758296829 0.00001
NM_182961.4(SYNE1):c.8106G>T (p.Val2702=) rs770378849 0.00001
NM_182961.4(SYNE1):c.8148C>T (p.Asp2716=) rs752872189 0.00001
NM_182961.4(SYNE1):c.8233T>C (p.Leu2745=) rs541934779 0.00001
NM_182961.4(SYNE1):c.8379A>G (p.Leu2793=) rs768912049 0.00001
NM_182961.4(SYNE1):c.8385G>A (p.Ala2795=) rs267600863 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=) rs759736838 0.00001
NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=) rs146288148 0.00001
NM_182961.4(SYNE1):c.8814C>T (p.Phe2938=) rs780165911 0.00001
NM_182961.4(SYNE1):c.8820G>T (p.Thr2940=) rs769247891 0.00001
NM_182961.4(SYNE1):c.8844C>T (p.Val2948=) rs750603610 0.00001
NM_182961.4(SYNE1):c.8862G>A (p.Ser2954=) rs139845890 0.00001
NM_182961.4(SYNE1):c.8994C>T (p.Cys2998=) rs143974384 0.00001
NM_182961.4(SYNE1):c.9255C>T (p.Ile3085=) rs746663201 0.00001
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198 0.00001
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005 0.00001
NM_182961.4(SYNE1):c.9435C>G (p.Ala3145=) rs750286179 0.00001
NM_182961.4(SYNE1):c.9507+18C>T rs769887324 0.00001
NM_182961.4(SYNE1):c.9726A>G (p.Glu3242=) rs990051448 0.00001
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=) rs759403157 0.00001
NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu) rs776319756 0.00001
NM_198994.3(TGM6):c.390C>T (p.Gly130=) rs751704232 0.00001
GRCh37/hg19 16q23.1(chr16:77896747-79037091)x1
NC_000001.11:g.212899378_212899379del rs148146820
NC_000011.10:g.108222768C>T rs1056339095
NC_000011.10:g.108222889A>T rs4987880
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.1002A>C (p.Ser334=)
NM_000051.4(ATM):c.1008T>C (p.Phe336=) rs1555068492
NM_000051.4(ATM):c.1014T>C (p.Asn338=) rs1555068510
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.4(ATM):c.102T>A (p.Ile34=) rs2135011891
NM_000051.4(ATM):c.1035G>A (p.Leu345=) rs2135268584
NM_000051.4(ATM):c.1041A>G (p.Glu347=) rs2135268758
NM_000051.4(ATM):c.1042T>C (p.Leu348=) rs746733866
NM_000051.4(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.4(ATM):c.1050A>G (p.Ala350=) rs1591511442
NM_000051.4(ATM):c.1056C>T (p.Ile352=) rs1555068605
NM_000051.4(ATM):c.105A>C (p.Arg35=) rs1060504270
NM_000051.4(ATM):c.105A>G (p.Arg35=)
NM_000051.4(ATM):c.1062C>T (p.His354=) rs773365379
NM_000051.4(ATM):c.1065+10G>A rs1591511658
NM_000051.4(ATM):c.1065+13G>C
NM_000051.4(ATM):c.1065+14G>A rs2135270151
NM_000051.4(ATM):c.1065+15T>A
NM_000051.4(ATM):c.1065+17A>G rs373230921
NM_000051.4(ATM):c.1065+18T>C
NM_000051.4(ATM):c.1065+19G>A
NM_000051.4(ATM):c.1065+19del
NM_000051.4(ATM):c.1065+20T>C
NM_000051.4(ATM):c.1065+4C>T rs1591511595
NM_000051.4(ATM):c.1065+5A>T rs1204741025
NM_000051.4(ATM):c.1065+8A>C rs2135270000
NM_000051.4(ATM):c.1065+9_1065+12del rs1486083030
NM_000051.4(ATM):c.1066-10T>C rs2135289561
NM_000051.4(ATM):c.1066-15A>G rs771020891
NM_000051.4(ATM):c.1066-16T>C
NM_000051.4(ATM):c.1066-19A>G
NM_000051.4(ATM):c.1066-19A>T
NM_000051.4(ATM):c.1066-7T>C
NM_000051.4(ATM):c.1066-9A>G rs774334532
NM_000051.4(ATM):c.1068T>C (p.Val356=) rs1462038794
NM_000051.4(ATM):c.1071T>C (p.Phe357=) rs1057521608
NM_000051.4(ATM):c.1074T>C (p.Asn358=) rs2135290159
NM_000051.4(ATM):c.1080T>C (p.Asp360=) rs199869975
NM_000051.4(ATM):c.1084A>C (p.Arg362=)
NM_000051.4(ATM):c.1086A>G (p.Arg362=) rs142591268
NM_000051.4(ATM):c.1089C>G (p.Ser363=)
NM_000051.4(ATM):c.1089C>T (p.Ser363=) rs1555069567
NM_000051.4(ATM):c.1101T>A (p.Ser367=)
NM_000051.4(ATM):c.1101T>C (p.Ser367=)
NM_000051.4(ATM):c.1113T>C (p.Thr371=) rs1591517484
NM_000051.4(ATM):c.1116T>C (p.Thr372=) rs371985921
NM_000051.4(ATM):c.1119A>C (p.Thr373=)
NM_000051.4(ATM):c.1119A>T (p.Thr373=) rs754889105
NM_000051.4(ATM):c.1122A>G (p.Gln374=) rs1264315069
NM_000051.4(ATM):c.1125A>G (p.Arg375=) rs2135292242
NM_000051.4(ATM):c.1128A>G (p.Glu376=) rs1186427608
NM_000051.4(ATM):c.1131T>A (p.Ser377=)
NM_000051.4(ATM):c.1131T>C (p.Ser377=) rs2135292457
NM_000051.4(ATM):c.1134T>C (p.Ser378=)
NM_000051.4(ATM):c.1140C>T (p.Tyr380=) rs2135292742
NM_000051.4(ATM):c.1143T>C (p.Ser381=) rs755991658
NM_000051.4(ATM):c.1146C>A (p.Val382=) rs786201150
NM_000051.4(ATM):c.1146C>G (p.Val382=) rs786201150
NM_000051.4(ATM):c.1146C>T (p.Val382=) rs786201150
NM_000051.4(ATM):c.1149T>C (p.Pro383=) rs786201409
NM_000051.4(ATM):c.114A>G (p.Glu38=) rs1591446969
NM_000051.4(ATM):c.1156A>C (p.Arg386=)
NM_000051.4(ATM):c.1161G>A (p.Lys387=) rs786202369
NM_000051.4(ATM):c.1170A>G (p.Glu390=) rs2135293693
NM_000051.4(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.4(ATM):c.117A>G (p.Thr39=)
NM_000051.4(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.4(ATM):c.1194T>C (p.Asp398=) rs551872656
NM_000051.4(ATM):c.1200T>C (p.Leu400=) rs1274342103
NM_000051.4(ATM):c.1209A>C (p.Ser403=)
NM_000051.4(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.4(ATM):c.1215T>C (p.Asn405=) rs2135295261
NM_000051.4(ATM):c.1218T>C (p.Asp406=) rs2135295378
NM_000051.4(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.4(ATM):c.1230G>A (p.Val410=) rs1555069869
NM_000051.4(ATM):c.1230G>T (p.Val410=) rs1555069869
NM_000051.4(ATM):c.1233T>C (p.Pro411=)
NM_000051.4(ATM):c.1233T>G (p.Pro411=) rs1591518323
NM_000051.4(ATM):c.1235+10T>C
NM_000051.4(ATM):c.1235+10_1235+28del rs1591518436
NM_000051.4(ATM):c.1235+11A>G rs2135296543
NM_000051.4(ATM):c.1235+16T>G
NM_000051.4(ATM):c.1235+19C>T
NM_000051.4(ATM):c.1235+20T>C rs762656752
NM_000051.4(ATM):c.1235+8G>A
NM_000051.4(ATM):c.1235+8G>T rs1555069907
NM_000051.4(ATM):c.1235+9T>G
NM_000051.4(ATM):c.1236-10T>C rs1364244917
NM_000051.4(ATM):c.1236-14_1236-13insA
NM_000051.4(ATM):c.1236-14_1236-13insC
NM_000051.4(ATM):c.1236-17T>G
NM_000051.4(ATM):c.1236-17_1236-16insG
NM_000051.4(ATM):c.1236-18C>T rs201767651
NM_000051.4(ATM):c.1236-18_1236-17dup
NM_000051.4(ATM):c.1236-19C>A
NM_000051.4(ATM):c.1236-19C>G
NM_000051.4(ATM):c.1236-19_1236-18insT rs1211190659
NM_000051.4(ATM):c.1236-20_1236-19insA
NM_000051.4(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.4(ATM):c.1236-3_1236-2insC rs730881281
NM_000051.4(ATM):c.1236-4_1236-3insC rs2135315149
NM_000051.4(ATM):c.1236-6T>C
NM_000051.4(ATM):c.1236-6_1236-5insC rs878853483
NM_000051.4(ATM):c.1236-7T>C rs2080086515
NM_000051.4(ATM):c.1236-7_1236-6insA
NM_000051.4(ATM):c.1236-9T>C rs2135314849
NM_000051.4(ATM):c.1236-9T>G rs2135314849
NM_000051.4(ATM):c.1236-9_1236-8insC rs863224290
NM_000051.4(ATM):c.1236-9_1236-8insG rs863224290
NM_000051.4(ATM):c.123A>G (p.Lys41=) rs2135012681
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1245T>C (p.Ile415=)
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe) rs1591522786
NM_000051.4(ATM):c.1251C>G (p.Thr417=) rs1555070643
NM_000051.4(ATM):c.1251C>T (p.Thr417=) rs1555070643
NM_000051.4(ATM):c.1257A>G (p.Leu419=) rs779037197
NM_000051.4(ATM):c.1260A>C (p.Ile420=) rs750468699
NM_000051.4(ATM):c.1263A>G (p.Ser421=) rs1060504285
NM_000051.4(ATM):c.1266G>A (p.Lys422=) rs1057520445
NM_000051.4(ATM):c.1272T>G (p.Pro424=)
NM_000051.4(ATM):c.1275A>G (p.Ala425=) rs1591523031
NM_000051.4(ATM):c.1278T>C (p.Ser426=)
NM_000051.4(ATM):c.127C>T (p.Leu43=) rs772591447
NM_000051.4(ATM):c.1293G>A (p.Glu431=) rs2135317554
NM_000051.4(ATM):c.1293_1294delinsAT (p.Glu431_Leu432=) rs1591523100
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.4(ATM):c.1296G>A (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1296G>C (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1299T>C (p.Ser433=)
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.4(ATM):c.1314A>T (p.Ile438=)
NM_000051.4(ATM):c.1320T>G (p.Ser440=)
NM_000051.4(ATM):c.1323G>A (p.Gln441=) rs2080095950
NM_000051.4(ATM):c.1326T>A (p.Leu442=)
NM_000051.4(ATM):c.1327C>T (p.Leu443=) rs1057524185
NM_000051.4(ATM):c.1329A>G (p.Leu443=) rs201460863
NM_000051.4(ATM):c.1332C>T (p.Pro444=)
NM_000051.4(ATM):c.133C>A (p.Arg45=) rs3218684
NM_000051.4(ATM):c.1341A>T (p.Arg447=) rs2135319279
NM_000051.4(ATM):c.1347G>A (p.Gly449=) rs1591523440
NM_000051.4(ATM):c.1350A>G (p.Glu450=) rs2135319715
NM_000051.4(ATM):c.1356A>G (p.Thr452=) rs1555070803
NM_000051.4(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.4(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135G>C (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135G>T (p.Arg45=) rs970407823
NM_000051.4(ATM):c.1365G>A (p.Val455=) rs765130666
NM_000051.4(ATM):c.1369C>A (p.Arg457=) rs749036865
NM_000051.4(ATM):c.1371A>G (p.Arg457=)
NM_000051.4(ATM):c.1371A>T (p.Arg457=)
NM_000051.4(ATM):c.1374C>T (p.Cys458=) rs2135320531
NM_000051.4(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1383A>G (p.Glu461=) rs748493136
NM_000051.4(ATM):c.1386T>C (p.Val462=)
NM_000051.4(ATM):c.1386T>G (p.Val462=)
NM_000051.4(ATM):c.1389A>G (p.Ala463=) rs2080102935
NM_000051.4(ATM):c.1390T>C (p.Leu464=)
NM_000051.4(ATM):c.1395T>C (p.Cys465=)
NM_000051.4(ATM):c.1398A>G (p.Gln466=) rs1591523834
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg) rs1060501628
NM_000051.4(ATM):c.1404G>A (p.Lys468=) rs2135321676
NM_000051.4(ATM):c.1410A>C (p.Ser470=) rs939650649
NM_000051.4(ATM):c.1416A>G (p.Leu472=) rs786201691
NM_000051.4(ATM):c.1419A>G (p.Glu473=) rs2135322174
NM_000051.4(ATM):c.1422C>T (p.Ser474=)
NM_000051.4(ATM):c.1425A>G (p.Ser475=) rs2080105606
NM_000051.4(ATM):c.1428A>G (p.Gln476=) rs745509434
NM_000051.4(ATM):c.1431G>A (p.Lys477=) rs1555070941
NM_000051.4(ATM):c.1434A>G (p.Ser478=) rs2135322636
NM_000051.4(ATM):c.1441T>C (p.Leu481=)
NM_000051.4(ATM):c.1449C>G (p.Leu483=) rs948934905
NM_000051.4(ATM):c.1461T>A (p.Ile487=)
NM_000051.4(ATM):c.1467T>C (p.Cys489=) rs1591524178
NM_000051.4(ATM):c.1473C>A (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1473C>T (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1476T>C (p.Phe492=) rs1591524241
NM_000051.4(ATM):c.147C>T (p.Ser49=) rs876660033
NM_000051.4(ATM):c.1482T>G (p.Gly494=) rs1335320350
NM_000051.4(ATM):c.1488T>C (p.Ser496=)
NM_000051.4(ATM):c.1491T>A (p.Ser497=) rs1555071057
NM_000051.4(ATM):c.1491T>C (p.Ser497=) rs1555071057
NM_000051.4(ATM):c.1506T>C (p.Ala502=)
NM_000051.4(ATM):c.1518C>G (p.Gly506=) rs864622528
NM_000051.4(ATM):c.1518C>T (p.Gly506=) rs864622528
NM_000051.4(ATM):c.1521A>G (p.Leu507=) rs2135325598
NM_000051.4(ATM):c.1524T>C (p.Leu508=) rs559095379
NM_000051.4(ATM):c.1524T>G (p.Leu508=)
NM_000051.4(ATM):c.1527A>G (p.Gly509=)
NM_000051.4(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.4(ATM):c.1551T>C (p.Val517=) rs553020161
NM_000051.4(ATM):c.1554G>A (p.Glu518=)
NM_000051.4(ATM):c.1560C>T (p.Asp520=) rs1591524777
NM_000051.4(ATM):c.1561A>C (p.Arg521=) rs2080118357
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
NM_000051.4(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.4(ATM):c.1581T>C (p.Phe527=) rs1555071227
NM_000051.4(ATM):c.1584T>A (p.Thr528=)
NM_000051.4(ATM):c.1584T>C (p.Thr528=) rs864622408
NM_000051.4(ATM):c.1584T>G (p.Thr528=)
NM_000051.4(ATM):c.1587G>A (p.Gly529=) rs1060504276
NM_000051.4(ATM):c.1590A>G (p.Ser530=) rs2135327907
NM_000051.4(ATM):c.1599A>G (p.Arg533=) rs1555071269
NM_000051.4(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.4(ATM):c.15T>G (p.Leu5=) rs1357506783
NM_000051.4(ATM):c.1602T>C (p.Pro534=) rs1555071275
NM_000051.4(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1605A>T (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1607+10G>A rs1555071298
NM_000051.4(ATM):c.1607+10G>C rs1555071298
NM_000051.4(ATM):c.1607+10G>T rs1555071298
NM_000051.4(ATM):c.1607+11C>A rs955225694
NM_000051.4(ATM):c.1607+11C>T
NM_000051.4(ATM):c.1607+12A>G
NM_000051.4(ATM):c.1607+13T>C rs1057522249
NM_000051.4(ATM):c.1607+14G>A
NM_000051.4(ATM):c.1607+15C>T
NM_000051.4(ATM):c.1607+18T>C
NM_000051.4(ATM):c.1607+18del rs1259647838
NM_000051.4(ATM):c.1607+19A>C
NM_000051.4(ATM):c.1607+19A>G
NM_000051.4(ATM):c.1607+20T>C rs1555071308
NM_000051.4(ATM):c.1607+21_1607+29del
NM_000051.4(ATM):c.1607+7T>C rs2135328716
NM_000051.4(ATM):c.1607+7T>G
NM_000051.4(ATM):c.1607+8C>T rs2135328749
NM_000051.4(ATM):c.1607+9A>T rs1028538482
NM_000051.4(ATM):c.1608-11T>C
NM_000051.4(ATM):c.1608-11T>G
NM_000051.4(ATM):c.1608-13T>C
NM_000051.4(ATM):c.1608-16C>A
NM_000051.4(ATM):c.1608-16C>G rs2080161173
NM_000051.4(ATM):c.1608-18T>C
NM_000051.4(ATM):c.1608-19G>C
NM_000051.4(ATM):c.1608-20T>C
NM_000051.4(ATM):c.1608-4A>G rs2080162473
NM_000051.4(ATM):c.1608-7G>A rs1555071656
NM_000051.4(ATM):c.1608-7G>T rs1555071656
NM_000051.4(ATM):c.1611T>C (p.Pro537=) rs2135338657
NM_000051.4(ATM):c.1611T>G (p.Pro537=)
NM_000051.4(ATM):c.1617A>G (p.Val539=) rs1060504300
NM_000051.4(ATM):c.1620C>T (p.Cys540=) rs1555071676
NM_000051.4(ATM):c.1635A>G (p.Ala545=) rs1555071712
NM_000051.4(ATM):c.1636C>T (p.Leu546=) rs2227924
NM_000051.4(ATM):c.1653T>C (p.Val551=)
NM_000051.4(ATM):c.1662G>C (p.Thr554=) rs764646531
NM_000051.4(ATM):c.1680G>A (p.Glu560=) rs1555071815
NM_000051.4(ATM):c.168T>C (p.Asn56=) rs1591447362
NM_000051.4(ATM):c.1698A>G (p.Val566=) rs2135341613
NM_000051.4(ATM):c.1701T>C (p.Asn567=) rs878853487
NM_000051.4(ATM):c.1719G>A (p.Lys573=)
NM_000051.4(ATM):c.1722A>G (p.Glu574=) rs372334891
NM_000051.4(ATM):c.1734A>G (p.Lys578=) rs1555071939
NM_000051.4(ATM):c.1740C>G (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1740C>T (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1743A>G (p.Leu581=)
NM_000051.4(ATM):c.1752G>A (p.Gln584=) rs2135343108
NM_000051.4(ATM):c.1761T>A (p.Gly587=)
NM_000051.4(ATM):c.1765T>C (p.Leu589=)
NM_000051.4(ATM):c.1776C>T (p.Ser592=) rs1057524304
NM_000051.4(ATM):c.1779A>C (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1782A>G (p.Glu594=) rs876660494
NM_000051.4(ATM):c.1788T>G (p.Pro596=)
NM_000051.4(ATM):c.1791A>G (p.Pro597=) rs2135344323
NM_000051.4(ATM):c.1794T>C (p.Ile598=) rs786201830
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1802+12T>G
NM_000051.4(ATM):c.1802+13C>T rs1555072105
NM_000051.4(ATM):c.1802+14A>G rs2135344920
NM_000051.4(ATM):c.1802+14A>T
NM_000051.4(ATM):c.1802+15T>C rs2135344940
NM_000051.4(ATM):c.1802+16T>C rs995327985
NM_000051.4(ATM):c.1802+16del rs1064794466
NM_000051.4(ATM):c.1802+18G>A
NM_000051.4(ATM):c.1802+18G>C rs1168327781
NM_000051.4(ATM):c.1802+19C>T
NM_000051.4(ATM):c.1802+20A>T rs1009750697
NM_000051.4(ATM):c.1802+8A>G rs766706104
NM_000051.4(ATM):c.1802+8A>T rs766706104
NM_000051.4(ATM):c.1802+9A>G rs2135344806
NM_000051.4(ATM):c.1803-10T>C rs1555072423
NM_000051.4(ATM):c.1803-15T>C rs2080225396
NM_000051.4(ATM):c.1803-18T>C
NM_000051.4(ATM):c.1803-20C>G
NM_000051.4(ATM):c.1803-20C>T
NM_000051.4(ATM):c.1803-4G>A rs876659300
NM_000051.4(ATM):c.1803-4G>T
NM_000051.4(ATM):c.1803-5T>C rs786203034
NM_000051.4(ATM):c.1803-7T>C rs2135352285
NM_000051.4(ATM):c.1803-9T>C rs2135352230
NM_000051.4(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.4(ATM):c.1812T>C (p.Pro604=)
NM_000051.4(ATM):c.1818T>G (p.Leu606=) rs2080227232
NM_000051.4(ATM):c.1821A>C (p.Val607=) rs876660362
NM_000051.4(ATM):c.1821A>G (p.Val607=) rs876660362
NM_000051.4(ATM):c.1822C>T (p.Leu608=) rs1591530779
NM_000051.4(ATM):c.1827G>A (p.Glu609=) rs1555072460
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
NM_000051.4(ATM):c.1833T>A (p.Ile611=) rs2135353362
NM_000051.4(ATM):c.1833T>C (p.Ile611=)
NM_000051.4(ATM):c.1836T>A (p.Leu612=) rs1309539769
NM_000051.4(ATM):c.1839G>C (p.Val613=) rs2135353682
NM_000051.4(ATM):c.1845C>T (p.Leu615=) rs1349398596
NM_000051.4(ATM):c.1848T>C (p.Thr616=) rs1045549048
NM_000051.4(ATM):c.185+10T>G rs1555054317
NM_000051.4(ATM):c.185+14A>G rs2135015612
NM_000051.4(ATM):c.185+16T>C rs1343329254
NM_000051.4(ATM):c.185+16T>G
NM_000051.4(ATM):c.185+18A>C
NM_000051.4(ATM):c.185+9T>G
NM_000051.4(ATM):c.186-10T>C rs773957101
NM_000051.4(ATM):c.186-11T>C
NM_000051.4(ATM):c.186-14T>A
NM_000051.4(ATM):c.186-18C>T rs1410616583
NM_000051.4(ATM):c.186-4G>A
NM_000051.4(ATM):c.186-4G>C
NM_000051.4(ATM):c.186-6T>C rs2078881202
NM_000051.4(ATM):c.186-8del rs1555055031
NM_000051.4(ATM):c.1866T>C (p.Ala622=) rs2135354414
NM_000051.4(ATM):c.1869A>G (p.Ala623=) rs1591531055
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.1881C>T (p.Phe627=) rs1555072574
NM_000051.4(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.4(ATM):c.1890G>A (p.Val630=)
NM_000051.4(ATM):c.1890G>T (p.Val630=) rs1555072586
NM_000051.4(ATM):c.1896A>G (p.Glu632=) rs2135355169
NM_000051.4(ATM):c.1898+10C>A
NM_000051.4(ATM):c.1898+10C>G rs199570442
NM_000051.4(ATM):c.1898+11T>A
NM_000051.4(ATM):c.1898+13A>C
NM_000051.4(ATM):c.1898+16A>T
NM_000051.4(ATM):c.1898+18G>A rs2135355669
NM_000051.4(ATM):c.1898+19C>G
NM_000051.4(ATM):c.1898+19C>T
NM_000051.4(ATM):c.1898+20T>G
NM_000051.4(ATM):c.1898+8A>T
NM_000051.4(ATM):c.1899-10T>A
NM_000051.4(ATM):c.1899-11C>G rs730881282
NM_000051.4(ATM):c.1899-14T>C rs2135365137
NM_000051.4(ATM):c.1899-16T>A rs1352009139
NM_000051.4(ATM):c.1899-16T>C
NM_000051.4(ATM):c.1899-16_1899-15insA rs2135365068
NM_000051.4(ATM):c.1899-23_1899-19del rs2135364890
NM_000051.4(ATM):c.1899-7C>A rs1060501584
NM_000051.4(ATM):c.1899-7C>G
NM_000051.4(ATM):c.1899-7C>T rs1060501584
NM_000051.4(ATM):c.189T>C (p.Phe63=) rs926466183
NM_000051.4(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.4(ATM):c.1908C>T (p.His636=) rs2135365854
NM_000051.4(ATM):c.1923A>G (p.Glu641=) rs2135366297
NM_000051.4(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.4(ATM):c.1932A>G (p.Ser644=)
NM_000051.4(ATM):c.1935C>T (p.Phe645=) rs876659709
NM_000051.4(ATM):c.1938A>G (p.Ser646=) rs1376318521
NM_000051.4(ATM):c.1944A>C (p.Val648=) rs1555073161
NM_000051.4(ATM):c.1944A>G (p.Val648=) rs1555073161
NM_000051.4(ATM):c.1951C>T (p.Leu651=) rs1057521751
NM_000051.4(ATM):c.1956T>C (p.Phe652=)
NM_000051.4(ATM):c.1968T>C (p.Thr656=) rs1317185205
NM_000051.4(ATM):c.1968T>G (p.Thr656=) rs1317185205
NM_000051.4(ATM):c.1974C>T (p.Asp658=)
NM_000051.4(ATM):c.1977G>A (p.Lys659=) rs1060501565
NM_000051.4(ATM):c.1983C>T (p.Asp661=) rs2080301965
NM_000051.4(ATM):c.1989A>G (p.Leu663=) rs786202748
NM_000051.4(ATM):c.1995T>A (p.Ile665=)
NM_000051.4(ATM):c.1995T>C (p.Ile665=) rs1555073271
NM_000051.4(ATM):c.1998G>A (p.Val666=) rs748380150
NM_000051.4(ATM):c.1998G>C (p.Val666=) rs748380150
NM_000051.4(ATM):c.2010T>C (p.Gly670=) rs2135368892
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.2028C>T (p.Ser676=) rs375196053
NM_000051.4(ATM):c.2031T>C (p.Ser677=) rs1591534580
NM_000051.4(ATM):c.2034T>A (p.Ile678=) rs1013513956
NM_000051.4(ATM):c.2034T>C (p.Ile678=) rs1013513956
NM_000051.4(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.4(ATM):c.2046C>G (p.Val682=) rs1591534664
NM_000051.4(ATM):c.2058C>G (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2058C>T (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2064A>G (p.Glu688=) rs772739433
NM_000051.4(ATM):c.2067A>G (p.Ser689=) rs1555073434
NM_000051.4(ATM):c.2068C>T (p.Leu690=) rs1555073437
NM_000051.4(ATM):c.2070G>A (p.Leu690=)
NM_000051.4(ATM):c.2088A>T (p.Gly696=) rs1555073469
NM_000051.4(ATM):c.2089T>C (p.Leu697=)
NM_000051.4(ATM):c.2091A>G (p.Leu697=) rs2135371070
NM_000051.4(ATM):c.2094A>C (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2094A>G (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2097A>G (p.Glu699=) rs777887012
NM_000051.4(ATM):c.2104C>T (p.Leu702=) rs1555073490
NM_000051.4(ATM):c.210A>G (p.Lys70=) rs1064793030
NM_000051.4(ATM):c.2112T>C (p.Asn704=) rs2080317012
NM_000051.4(ATM):c.2124+12T>A rs61278354
NM_000051.4(ATM):c.2124+15A>G
NM_000051.4(ATM):c.2124+16_2124+19del rs35211268
NM_000051.4(ATM):c.2124+19A>C
NM_000051.4(ATM):c.2124+20G>A
NM_000051.4(ATM):c.2124+20G>C
NM_000051.4(ATM):c.2124+20G>T
NM_000051.4(ATM):c.2124+6A>G rs550998406
NM_000051.4(ATM):c.2124+9T>A rs1591535203
NM_000051.4(ATM):c.2125-12G>A rs2135391706
NM_000051.4(ATM):c.2125-12del rs1555074807
NM_000051.4(ATM):c.2125-14T>C
NM_000051.4(ATM):c.2125-15G>T
NM_000051.4(ATM):c.2125-15_2125-9del rs2135391517
NM_000051.4(ATM):c.2125-16T>C rs1057523016
NM_000051.4(ATM):c.2125-17T>C rs1373576656
NM_000051.4(ATM):c.2125-18T>C
NM_000051.4(ATM):c.2125-19A>C rs2080469665
NM_000051.4(ATM):c.2125-19A>T rs2080469665
NM_000051.4(ATM):c.2125-4T>C rs1064795623
NM_000051.4(ATM):c.2125-4dup rs2135391852
NM_000051.4(ATM):c.2125-5T>C
NM_000051.4(ATM):c.2125-7C>A rs2135391832
NM_000051.4(ATM):c.2125-7_2125-3del rs1060504272
NM_000051.4(ATM):c.2125-9T>C rs2135391794
NM_000051.4(ATM):c.2127T>A (p.Ile709=)
NM_000051.4(ATM):c.2130A>C (p.Thr710=)
NM_000051.4(ATM):c.2130A>G (p.Thr710=) rs2080472731
NM_000051.4(ATM):c.2139A>G (p.Glu713=) rs2080473610
NM_000051.4(ATM):c.2145T>G (p.Leu715=) rs2080474170
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2157A>G (p.Ser719=) rs1591542014
NM_000051.4(ATM):c.2157A>T (p.Ser719=)
NM_000051.4(ATM):c.2163T>C (p.Leu721=) rs1591542057
NM_000051.4(ATM):c.2164T>C (p.Leu722=)
NM_000051.4(ATM):c.2169G>T (p.Val723=) rs878853491
NM_000051.4(ATM):c.2172T>C (p.Gly724=) rs1591542120
NM_000051.4(ATM):c.2172T>G (p.Gly724=) rs1591542120
NM_000051.4(ATM):c.2178T>C (p.Leu726=) rs1591542185
NM_000051.4(ATM):c.2181C>G (p.Gly727=) rs876658836
NM_000051.4(ATM):c.2184C>T (p.Cys728=) rs1555074933
NM_000051.4(ATM):c.2190T>C (p.Cys730=) rs876659949
NM_000051.4(ATM):c.2199T>C (p.Gly733=) rs1591542359
NM_000051.4(ATM):c.2202A>G (p.Val734=)
NM_000051.4(ATM):c.2208T>G (p.Ala736=) rs761874856
NM_000051.4(ATM):c.2214G>A (p.Glu738=) rs1565395061
NM_000051.4(ATM):c.2220A>T (p.Ala740=) rs56353517
NM_000051.4(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.4(ATM):c.2229A>T (p.Ser743=)
NM_000051.4(ATM):c.222T>C (p.Cys74=) rs1555055127
NM_000051.4(ATM):c.2232A>G (p.Glu744=) rs2080482588
NM_000051.4(ATM):c.2233T>C (p.Leu745=) rs1293287271
NM_000051.4(ATM):c.2244A>G (p.Lys748=) rs1591542559
NM_000051.4(ATM):c.2247C>T (p.Ala749=)
NM_000051.4(ATM):c.2250+12T>G
NM_000051.4(ATM):c.2250+13A>G rs1290519111
NM_000051.4(ATM):c.2250+15A>C rs1057523706
NM_000051.4(ATM):c.2250+15A>G rs1057523706
NM_000051.4(ATM):c.2250+16C>G rs2135395339
NM_000051.4(ATM):c.2250+16C>T
NM_000051.4(ATM):c.2250+20T>A rs377570109
NM_000051.4(ATM):c.2250+7G>A rs752009031
NM_000051.4(ATM):c.2250+7G>T rs752009031
NM_000051.4(ATM):c.2250+8A>T rs1555075054
NM_000051.4(ATM):c.2250+9A>C rs755569951
NM_000051.4(ATM):c.2250+9A>G rs755569951
NM_000051.4(ATM):c.2251-12T>C
NM_000051.4(ATM):c.2251-13C>A
NM_000051.4(ATM):c.2251-13C>G
NM_000051.4(ATM):c.2251-13C>T
NM_000051.4(ATM):c.2251-14T>A rs751677125
NM_000051.4(ATM):c.2251-15T>C rs1565396892
NM_000051.4(ATM):c.2251-16C>T
NM_000051.4(ATM):c.2251-18T>C
NM_000051.4(ATM):c.2251-3T>C rs752951518
NM_000051.4(ATM):c.2251-3T>G
NM_000051.4(ATM):c.2251-5A>C
NM_000051.4(ATM):c.2251-5A>T
NM_000051.4(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.2268A>G (p.Ala756=) rs1057522845
NM_000051.4(ATM):c.2284C>T (p.Leu762=) rs876659401
NM_000051.4(ATM):c.2289T>C (p.Phe763=)
NM_000051.4(ATM):c.228A>G (p.Arg76=) rs1591451698
NM_000051.4(ATM):c.2295T>C (p.Asn765=) rs1444950103
NM_000051.4(ATM):c.22C>T (p.Leu8=) rs2135004594
NM_000051.4(ATM):c.2301A>C (p.Thr767=)
NM_000051.4(ATM):c.2304T>C (p.Asn768=) rs2135406753
NM_000051.4(ATM):c.2307G>A (p.Glu769=)
NM_000051.4(ATM):c.2326T>C (p.Leu776=) rs762937809
NM_000051.4(ATM):c.2329A>C (p.Arg777=) rs1565397263
NM_000051.4(ATM):c.2334T>C (p.Asn778=) rs1555075758
NM_000051.4(ATM):c.2343G>A (p.Gln781=) rs2135407606
NM_000051.4(ATM):c.234A>G (p.Ala78=) rs1555055145
NM_000051.4(ATM):c.2352A>C (p.Thr784=)
NM_000051.4(ATM):c.2352A>G (p.Thr784=) rs759679953
NM_000051.4(ATM):c.2352A>T (p.Thr784=) rs759679953
NM_000051.4(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg) rs2135408164
NM_000051.4(ATM):c.2364C>T (p.Ser788=) rs2135408164
NM_000051.4(ATM):c.2367C>T (p.Asn789=) rs2080585059
NM_000051.4(ATM):c.2376+11C>T
NM_000051.4(ATM):c.2376+14C>A rs2135408701
NM_000051.4(ATM):c.2376+16del rs779169817
NM_000051.4(ATM):c.2376+17C>G
NM_000051.4(ATM):c.2376+17_2376+18del
NM_000051.4(ATM):c.2376+18T>A
NM_000051.4(ATM):c.2376+18T>C rs1555075849
NM_000051.4(ATM):c.2376+20G>A rs140364468
NM_000051.4(ATM):c.2376+20_2376+22del rs1171212629
NM_000051.4(ATM):c.2376+3A>G rs758083563
NM_000051.4(ATM):c.2376+5_2376+13dup
NM_000051.4(ATM):c.2376+7T>A
NM_000051.4(ATM):c.2376+7T>C
NM_000051.4(ATM):c.2376+7T>G rs2135408560
NM_000051.4(ATM):c.2376+8T>A rs2135408581
NM_000051.4(ATM):c.2376+8T>C
NM_000051.4(ATM):c.2376+8T>G rs2135408581
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2376+9TTC[4]
NM_000051.4(ATM):c.2377-11C>A rs2080691297
NM_000051.4(ATM):c.2377-11C>G rs2080691297
NM_000051.4(ATM):c.2377-12T>C
NM_000051.4(ATM):c.2377-14del
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2377-16T>A rs1009142114
NM_000051.4(ATM):c.2377-17G>C rs192105604
NM_000051.4(ATM):c.2377-20_2377-18del rs2080689774
NM_000051.4(ATM):c.2377-5T>C rs754206007
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2377-9T>A rs2080691443
NM_000051.4(ATM):c.237A>G (p.Lys79=) rs1160350816
NM_000051.4(ATM):c.2382T>C (p.Ser794=) rs1555076601
NM_000051.4(ATM):c.2385A>G (p.Pro795=) rs2135420750
NM_000051.4(ATM):c.2394T>C (p.Ile798=) rs876659882
NM_000051.4(ATM):c.2397A>C (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2397A>G (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2397A>T (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2400T>A (p.Ser800=)
NM_000051.4(ATM):c.2403C>A (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2403C>T (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.4(ATM):c.2409C>T (p.Phe803=) rs1416444032
NM_000051.4(ATM):c.2410C>T (p.Leu804=) rs1591551341
NM_000051.4(ATM):c.2415A>G (p.Arg805=)
NM_000051.4(ATM):c.2416T>C (p.Leu806=) rs1591551376
NM_000051.4(ATM):c.2424A>C (p.Thr808=)
NM_000051.4(ATM):c.2424A>G (p.Thr808=) rs1555076671
NM_000051.4(ATM):c.2427A>G (p.Ser809=) rs1591551435
NM_000051.4(ATM):c.2430G>A (p.Lys810=) rs1555076689
NM_000051.4(ATM):c.2431C>T (p.Leu811=) rs2135421739
NM_000051.4(ATM):c.243T>C (p.Asn81=) rs1591451819
NM_000051.4(ATM):c.2442C>T (p.Asp814=) rs3218695
NM_000051.4(ATM):c.2466+10C>A rs759158068
NM_000051.4(ATM):c.2466+10C>T rs759158068
NM_000051.4(ATM):c.2466+10_2466+16del
NM_000051.4(ATM):c.2466+13C>G
NM_000051.4(ATM):c.2466+16G>A rs2135422757
NM_000051.4(ATM):c.2466+19T>C
NM_000051.4(ATM):c.2466+20T>C
NM_000051.4(ATM):c.2466+7A>T rs55812024
NM_000051.4(ATM):c.2466+8T>A rs765619483
NM_000051.4(ATM):c.2466+8T>C rs765619483
NM_000051.4(ATM):c.2466+9G>A
NM_000051.4(ATM):c.2466+9G>T rs2135422617
NM_000051.4(ATM):c.2466+9dup
NM_000051.4(ATM):c.2467-11C>G
NM_000051.4(ATM):c.2467-11C>T rs1267435091
NM_000051.4(ATM):c.2467-12T>C rs1469467036
NM_000051.4(ATM):c.2467-13C>G
NM_000051.4(ATM):c.2467-17G>A
NM_000051.4(ATM):c.2467-17_2467-14del
NM_000051.4(ATM):c.2467-19T>G rs2135504690
NM_000051.4(ATM):c.2467-20T>G
NM_000051.4(ATM):c.2467-4G>A rs1555082048
NM_000051.4(ATM):c.2467-4G>T rs1555082048
NM_000051.4(ATM):c.2467-7dup rs762495417
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2467-8C>T rs1425701157
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
NM_000051.4(ATM):c.2472C>G (p.Ser824=) rs786203289
NM_000051.4(ATM):c.2472C>T (p.Ser824=) rs786203289
NM_000051.4(ATM):c.2484G>A (p.Lys828=)
NM_000051.4(ATM):c.2487A>G (p.Pro829=) rs1330586139
NM_000051.4(ATM):c.2493C>T (p.Asp831=) rs2135505712
NM_000051.4(ATM):c.2499A>C (p.Gly833=) rs1060504263
NM_000051.4(ATM):c.249A>C (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.249A>G (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.249A>T (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.24G>A (p.Leu8=) rs1555053888
NM_000051.4(ATM):c.2502A>G (p.Glu834=) rs1591587377
NM_000051.4(ATM):c.2505A>G (p.Val835=) rs1057523506
NM_000051.4(ATM):c.2508A>G (p.Glu836=) rs2135506209
NM_000051.4(ATM):c.2511A>G (p.Ser837=)
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
NM_000051.4(ATM):c.2520T>C (p.Asp840=) rs1591587498
NM_000051.4(ATM):c.2523T>C (p.Asp841=) rs758234872
NM_000051.4(ATM):c.2526T>A (p.Thr842=)
NM_000051.4(ATM):c.2529T>C (p.Asn843=) rs876660189
NM_000051.4(ATM):c.252C>T (p.Ala84=)
NM_000051.4(ATM):c.2538A>C (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2538A>G (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2544G>A (p.Glu848=) rs1060501601
NM_000051.4(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.4(ATM):c.2556G>A (p.Gln852=) rs2081307368
NM_000051.4(ATM):c.2559A>G (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.2559A>T (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.255A>C (p.Ser85=)
NM_000051.4(ATM):c.255A>G (p.Ser85=) rs2135035403
NM_000051.4(ATM):c.2562C>T (p.Ser854=)
NM_000051.4(ATM):c.2571A>T (p.Leu857=) rs1191404395
NM_000051.4(ATM):c.2586T>C (p.Pro862=) rs2135508452
NM_000051.4(ATM):c.258A>G (p.Thr86=) rs777434093
NM_000051.4(ATM):c.2595T>C (p.Ser865=)
NM_000051.4(ATM):c.2622G>A (p.Glu874=) rs2135509315
NM_000051.4(ATM):c.2625C>T (p.Ser875=) rs1591588785
NM_000051.4(ATM):c.2628A>G (p.Gln876=) rs1339119718
NM_000051.4(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.4(ATM):c.2638+11A>G rs1057521911
NM_000051.4(ATM):c.2638+12T>G
NM_000051.4(ATM):c.2638+15A>C
NM_000051.4(ATM):c.2638+15A>G
NM_000051.4(ATM):c.2638+16C>A rs1386019726
NM_000051.4(ATM):c.2638+17T>C
NM_000051.4(ATM):c.2638+18A>G rs1057521739
NM_000051.4(ATM):c.2638+18A>T rs1057521739
NM_000051.4(ATM):c.2638+19C>A rs1439350674
NM_000051.4(ATM):c.2638+19C>G
NM_000051.4(ATM):c.2638+19C>T
NM_000051.4(ATM):c.2638+7A>C
NM_000051.4(ATM):c.2638+7A>G rs1555082379
NM_000051.4(ATM):c.2638+8C>A
NM_000051.4(ATM):c.2638+9A>C rs761592414
NM_000051.4(ATM):c.2638+9A>T rs761592414
NM_000051.4(ATM):c.2638+9_2638+18dup
NM_000051.4(ATM):c.2639-13T>C
NM_000051.4(ATM):c.2639-15G>A rs757723219
NM_000051.4(ATM):c.2639-15G>T
NM_000051.4(ATM):c.2639-17G>A
NM_000051.4(ATM):c.2639-20T>A
NM_000051.4(ATM):c.2639-20T>C rs2135522472
NM_000051.4(ATM):c.2639-20T>G
NM_000051.4(ATM):c.2639-382_2639-377del rs1397425268
NM_000051.4(ATM):c.2639-384A>T rs1131691154
NM_000051.4(ATM):c.2639-386_2639-381del
NM_000051.4(ATM):c.2639-8A>G rs779419160
NM_000051.4(ATM):c.2639-8del rs2135522747
NM_000051.4(ATM):c.2640T>C (p.Gly880=)
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
NM_000051.4(ATM):c.2646T>A (p.Ile882=) rs1591593585
NM_000051.4(ATM):c.2646T>C (p.Ile882=) rs1591593585
NM_000051.4(ATM):c.264C>T (p.Ala88=) rs1555055190
NM_000051.4(ATM):c.2658T>C (p.Ala886=) rs1591593665
NM_000051.4(ATM):c.2664A>G (p.Glu888=) rs2135523410
NM_000051.4(ATM):c.2667T>C (p.Tyr889=) rs2081381578
NM_000051.4(ATM):c.2668C>T (p.Leu890=)
NM_000051.4(ATM):c.2676G>A (p.Lys892=) rs1555083128
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.267C>T (p.Ser89=) rs1555055198
NM_000051.4(ATM):c.2683C>T (p.Leu895=)
NM_000051.4(ATM):c.2703C>G (p.Leu901=) rs1315907364
NM_000051.4(ATM):c.2703C>T (p.Leu901=) rs1315907364
NM_000051.4(ATM):c.2706G>A (p.Lys902=) rs2135524458
NM_000051.4(ATM):c.2709C>T (p.Phe903=) rs2135524508
NM_000051.4(ATM):c.270G>A (p.Arg90=) rs1313014736
NM_000051.4(ATM):c.2721T>C (p.Cys907=)
NM_000051.4(ATM):c.2724A>G (p.Val908=)
NM_000051.4(ATM):c.2724A>T (p.Val908=) rs1555083247
NM_000051.4(ATM):c.2727T>C (p.Thr909=)
NM_000051.4(ATM):c.2739C>T (p.Thr913=) rs1555083293
NM_000051.4(ATM):c.2742T>C (p.Asn914=) rs1057520522
NM_000051.4(ATM):c.2745T>C (p.Thr915=) rs2135525290
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
NM_000051.4(ATM):c.2748G>A (p.Val916=) rs1050470790
NM_000051.4(ATM):c.2751C>A (p.Ser917=)
NM_000051.4(ATM):c.2751C>G (p.Ser917=) rs876659611
NM_000051.4(ATM):c.2754T>C (p.Phe918=) rs758955717
NM_000051.4(ATM):c.2757G>A (p.Arg919=)
NM_000051.4(ATM):c.2763T>A (p.Ala921=) rs1555083334
NM_000051.4(ATM):c.2763T>C (p.Ala921=) rs1555083334
NM_000051.4(ATM):c.2766T>C (p.Asp922=) rs2135525790
NM_000051.4(ATM):c.276A>G (p.Lys92=) rs786201137
NM_000051.4(ATM):c.2772G>A (p.Arg924=)
NM_000051.4(ATM):c.2772G>C (p.Arg924=) rs777541280
NM_000051.4(ATM):c.2779T>C (p.Leu927=) rs2135526043
NM_000051.4(ATM):c.2781G>A (p.Leu927=) rs770565353
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
NM_000051.4(ATM):c.2788T>C (p.Leu930=) rs2135526232
NM_000051.4(ATM):c.279G>A (p.Lys93=) rs368196317
NM_000051.4(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806C>T (p.Leu936=) rs1422401186
NM_000051.4(ATM):c.2808A>G (p.Leu936=) rs547791214
NM_000051.4(ATM):c.2808A>T (p.Leu936=)
NM_000051.4(ATM):c.2811A>G (p.Glu937=)
NM_000051.4(ATM):c.2817C>G (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.2817C>T (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2823C>T (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2830C>T (p.Leu944=)
NM_000051.4(ATM):c.2832G>C (p.Leu944=) rs2135527476
NM_000051.4(ATM):c.2838+10G>A rs1555083482
NM_000051.4(ATM):c.2838+12T>A
NM_000051.4(ATM):c.2838+12T>C
NM_000051.4(ATM):c.2838+16T>C
NM_000051.4(ATM):c.2838+17G>C
NM_000051.4(ATM):c.2838+17G>T
NM_000051.4(ATM):c.2838+8A>G rs1295524564
NM_000051.4(ATM):c.2838+9C>A rs370160823
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2839-11T>A rs1429589119
NM_000051.4(ATM):c.2839-11T>C
NM_000051.4(ATM):c.2839-12C>G
NM_000051.4(ATM):c.2839-13C>T
NM_000051.4(ATM):c.2839-14T>C
NM_000051.4(ATM):c.2839-15C>T rs2081545815
NM_000051.4(ATM):c.2839-18dup rs730881287
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2839-577G>A rs2135541900
NM_000051.4(ATM):c.2839-577G>C rs2135541900
NM_000051.4(ATM):c.2839-578A>G rs2135541882
NM_000051.4(ATM):c.2839-579A>G
NM_000051.4(ATM):c.2839-581G>A rs2135541843
NM_000051.4(ATM):c.2839-5C>A rs876660205
NM_000051.4(ATM):c.2839-5C>G
NM_000051.4(ATM):c.2839-6T>C rs1338486619
NM_000051.4(ATM):c.2839-7A>G rs1445472389
NM_000051.4(ATM):c.2839-8C>A rs1555084596
NM_000051.4(ATM):c.2839-8C>T rs1555084596
NM_000051.4(ATM):c.2839-9C>T
NM_000051.4(ATM):c.2841T>C (p.Tyr947=) rs1167845678
NM_000051.4(ATM):c.2842C>T (p.Leu948=) rs1591602173
NM_000051.4(ATM):c.2844A>C (p.Leu948=)
NM_000051.4(ATM):c.2844A>G (p.Leu948=) rs1555084628
NM_000051.4(ATM):c.2856G>A (p.Lys952=) rs2135547604
NM_000051.4(ATM):c.2862T>G (p.Leu954=) rs1426256662
NM_000051.4(ATM):c.2865T>C (p.Pro955=) rs1555084654
NM_000051.4(ATM):c.2871A>G (p.Glu957=) rs863224291
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2874G>A (p.Glu958=) rs1555084671
NM_000051.4(ATM):c.2877C>T (p.Tyr959=) rs1057517253
NM_000051.4(ATM):c.2880C>T (p.Pro960=) rs1591602430
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
NM_000051.4(ATM):c.288A>G (p.Glu96=) rs1226812648
NM_000051.4(ATM):c.2895T>C (p.Asp965=) rs1424320755
NM_000051.4(ATM):c.2901T>G (p.Leu967=) rs778731866
NM_000051.4(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.4(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.4(ATM):c.2916A>T (p.Pro972=) rs2081553201
NM_000051.4(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.4(ATM):c.291C>A (p.Ile97=) rs746762110
NM_000051.4(ATM):c.291C>T (p.Ile97=) rs746762110
NM_000051.4(ATM):c.2921+10T>G rs1060504278
NM_000051.4(ATM):c.2921+11A>G rs1565424678
NM_000051.4(ATM):c.2921+15C>T rs1057521619
NM_000051.4(ATM):c.2921+16C>T rs558376224
NM_000051.4(ATM):c.2921+18T>C rs1565424709
NM_000051.4(ATM):c.2921+19A>G
NM_000051.4(ATM):c.2921+19_2921+20del rs2135549382
NM_000051.4(ATM):c.2921+20T>A
NM_000051.4(ATM):c.2921+20T>C rs2081555059
NM_000051.4(ATM):c.2921+24_2921+28del rs780315379
NM_000051.4(ATM):c.2922-10T>C rs2081563514
NM_000051.4(ATM):c.2922-10T>G rs2081563514
NM_000051.4(ATM):c.2922-13T>C rs1565424946
NM_000051.4(ATM):c.2922-14T>C rs761100734
NM_000051.4(ATM):c.2922-18T>C
NM_000051.4(ATM):c.2922-4A>G rs1555084924
NM_000051.4(ATM):c.2922-5C>T rs1452462211
NM_000051.4(ATM):c.2922-6C>A rs1346698280
NM_000051.4(ATM):c.2922-7A>G
NM_000051.4(ATM):c.2922-7A>T rs1292971489
NM_000051.4(ATM):c.2922-7dup rs932219783
NM_000051.4(ATM):c.2922-9T>C rs2135551080
NM_000051.4(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.4(ATM):c.2925T>C (p.Asn975=) rs765848319
NM_000051.4(ATM):c.2928G>A (p.Val976=) rs1591603577
NM_000051.4(ATM):c.2937G>A (p.Leu979=) rs1166904824
NM_000051.4(ATM):c.2943T>C (p.Arg981=)
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2946T>C (p.Arg982=)
NM_000051.4(ATM):c.2949C>T (p.Asp983=) rs1555085022
NM_000051.4(ATM):c.2952A>G (p.Gln984=) rs1476499901
NM_000051.4(ATM):c.2955T>C (p.Asp985=) rs1555085034
NM_000051.4(ATM):c.2967T>G (p.Thr989=) rs144145128
NM_000051.4(ATM):c.2982C>T (p.Val994=) rs200541844
NM_000051.4(ATM):c.2985T>A (p.Leu995=) rs1555085087
NM_000051.4(ATM):c.2988T>C (p.His996=) rs559676197
NM_000051.4(ATM):c.2991A>G (p.Val997=) rs1203368496
NM_000051.4(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.4(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.4(ATM):c.3006T>C (p.Gly1002=)
NM_000051.4(ATM):c.3009A>G (p.Gln1003=) rs1555085154
NM_000051.4(ATM):c.300G>A (p.Leu100=) rs878853499
NM_000051.4(ATM):c.3015T>C (p.Asn1005=)
NM_000051.4(ATM):c.3024T>C (p.Ser1008=) rs1060504274
NM_000051.4(ATM):c.3024T>G (p.Ser1008=) rs1060504274
NM_000051.4(ATM):c.3027G>A (p.Glu1009=) rs1060504299
NM_000051.4(ATM):c.3034A>C (p.Arg1012=) rs752615128
NM_000051.4(ATM):c.3036G>A (p.Arg1012=)
NM_000051.4(ATM):c.3039T>C (p.Asp1013=) rs1591604597
NM_000051.4(ATM):c.303C>G (p.Val101=) rs1555055291
NM_000051.4(ATM):c.303C>T (p.Val101=) rs1555055291
NM_000051.4(ATM):c.3042T>C (p.Ala1014=) rs1555085205
NM_000051.4(ATM):c.3045A>G (p.Gln1015=) rs1064796404
NM_000051.4(ATM):c.3048A>G (p.Gly1016=) rs786203820
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
NM_000051.4(ATM):c.3063A>G (p.Val1021=) rs1591604752
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe) rs786202470
NM_000051.4(ATM):c.3069A>G (p.Gly1023=) rs778984289
NM_000051.4(ATM):c.306A>G (p.Lys102=) rs1060501626
NM_000051.4(ATM):c.3072A>G (p.Ala1024=) rs772274328
NM_000051.4(ATM):c.3077+11T>G
NM_000051.4(ATM):c.3077+12C>G rs2081578131
NM_000051.4(ATM):c.3077+13dup rs1555085272
NM_000051.4(ATM):c.3077+14A>G rs977758069
NM_000051.4(ATM):c.3077+14A>T
NM_000051.4(ATM):c.3077+15T>C rs1555085277
NM_000051.4(ATM):c.3077+19_3077+31del
NM_000051.4(ATM):c.3077+21_3077+23del rs1243820894
NM_000051.4(ATM):c.3077+3A>G
NM_000051.4(ATM):c.3077+7A>C rs2081577708
NM_000051.4(ATM):c.3077+7A>G rs2081577708
NM_000051.4(ATM):c.3077+8C>A rs752601608
NM_000051.4(ATM):c.3077+8C>T rs752601608
NM_000051.4(ATM):c.3077+9A>T
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3078-12_3078-10del
NM_000051.4(ATM):c.3078-14T>C
NM_000051.4(ATM):c.3078-14T>G
NM_000051.4(ATM):c.3078-16A>C
NM_000051.4(ATM):c.3078-19A>C
NM_000051.4(ATM):c.3078-20G>A
NM_000051.4(ATM):c.3078-4T>A
NM_000051.4(ATM):c.3078-4T>G rs1591608166
NM_000051.4(ATM):c.3078-7A>G
NM_000051.4(ATM):c.3078-7A>T
NM_000051.4(ATM):c.3078-8G>C
NM_000051.4(ATM):c.3081T>C (p.His1027=) rs864622587
NM_000051.4(ATM):c.3084A>C (p.Leu1028=) rs1565427561
NM_000051.4(ATM):c.3084A>G (p.Leu1028=) rs1565427561
NM_000051.4(ATM):c.3087A>C (p.Thr1029=) rs1555085787
NM_000051.4(ATM):c.3087A>G (p.Thr1029=) rs1555085787
NM_000051.4(ATM):c.3090G>A (p.Lys1030=) rs1591608292
NM_000051.4(ATM):c.3093G>A (p.Glu1031=) rs1555085799
NM_000051.4(ATM):c.3096G>A (p.Arg1032=) rs1555085805
NM_000051.4(ATM):c.30C>A (p.Ile10=) rs1591445856
NM_000051.4(ATM):c.30C>T (p.Ile10=) rs1591445856
NM_000051.4(ATM):c.3111T>C (p.Ser1037=) rs1591608393
NM_000051.4(ATM):c.3115A>C (p.Arg1039=) rs1060504309
NM_000051.4(ATM):c.3117A>G (p.Arg1039=) rs55784207
NM_000051.4(ATM):c.3129A>G (p.Val1043=)
NM_000051.4(ATM):c.312C>T (p.Phe104=) rs1060504310
NM_000051.4(ATM):c.3135C>T (p.Cys1045=) rs773577455
NM_000051.4(ATM):c.3138T>C (p.Leu1046=) rs3092858
NM_000051.4(ATM):c.3141A>G (p.Lys1047=)
NM_000051.4(ATM):c.3145T>C (p.Leu1049=) rs1591608635
NM_000051.4(ATM):c.3153+11G>C
NM_000051.4(ATM):c.3153+12C>T rs2135567275
NM_000051.4(ATM):c.3153+13A>G
NM_000051.4(ATM):c.3153+15T>G
NM_000051.4(ATM):c.3153+16T>G
NM_000051.4(ATM):c.3153+18T>G rs1555085921
NM_000051.4(ATM):c.3153+19T>G rs1565428143
NM_000051.4(ATM):c.3153+20T>A rs200786429
NM_000051.4(ATM):c.3153+7T>C rs2135567095
NM_000051.4(ATM):c.3153+7_3153+8insA rs878853500
NM_000051.4(ATM):c.3153+9T>C rs770464168
NM_000051.4(ATM):c.3154-10T>C rs2135569357
NM_000051.4(ATM):c.3154-12C>A
NM_000051.4(ATM):c.3154-12C>T
NM_000051.4(ATM):c.3154-16A>C
NM_000051.4(ATM):c.3154-18del
NM_000051.4(ATM):c.3154-19C>T
NM_000051.4(ATM):c.3154-20C>T rs1057522141
NM_000051.4(ATM):c.3154-4G>T rs199543313
NM_000051.4(ATM):c.3154-7C>T rs756615573
NM_000051.4(ATM):c.3154-9T>C rs2135569385
NM_000051.4(ATM):c.315C>T (p.Ile105=) rs1057522344
NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr) rs775095314
NM_000051.4(ATM):c.3162T>A (p.Pro1054=)
NM_000051.4(ATM):c.3162T>G (p.Pro1054=) rs2081658300
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)
NM_000051.4(ATM):c.3177C>G (p.Ala1059=) rs1044910300
NM_000051.4(ATM):c.3186T>C (p.Asn1062=)
NM_000051.4(ATM):c.319T>C (p.Cys107Arg) rs864622508
NM_000051.4(ATM):c.3201C>T (p.Asp1067=) rs1188674152
NM_000051.4(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.4(ATM):c.3207T>C (p.Pro1069=) rs878853502
NM_000051.4(ATM):c.3210A>T (p.Val1070=) rs1443665212
NM_000051.4(ATM):c.3213T>C (p.Asn1071=) rs786203221
NM_000051.4(ATM):c.3225A>C (p.Thr1075=)
NM_000051.4(ATM):c.3225A>G (p.Thr1075=) rs1555086107
NM_000051.4(ATM):c.3228A>G (p.Gln1076=) rs1057522201
NM_000051.4(ATM):c.3237T>G (p.Ala1079=)
NM_000051.4(ATM):c.3243T>C (p.Asn1081=) rs2135572258
NM_000051.4(ATM):c.324A>G (p.Ala108=) rs2135038430
NM_000051.4(ATM):c.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3262T>C (p.Leu1088=) rs2081670323
NM_000051.4(ATM):c.3267T>C (p.Ala1089=)
NM_000051.4(ATM):c.3270A>G (p.Ala1090=) rs997005308
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.4(ATM):c.3276A>G (p.Ser1092=) rs2135573179
NM_000051.4(ATM):c.3279C>T (p.Ile1093=)
NM_000051.4(ATM):c.3284+10C>G rs2081674914
NM_000051.4(ATM):c.3284+11A>C rs1565429231
NM_000051.4(ATM):c.3284+12A>G
NM_000051.4(ATM):c.3284+19A>G rs2135573831
NM_000051.4(ATM):c.3284+19A>T
NM_000051.4(ATM):c.3284+20T>C rs1448789912
NM_000051.4(ATM):c.3284+6G>A
NM_000051.4(ATM):c.3284+7G>A rs371629629
NM_000051.4(ATM):c.3284+8G>A
NM_000051.4(ATM):c.3284+8dup rs886047611
NM_000051.4(ATM):c.3284+9T>C rs1555086278
NM_000051.4(ATM):c.3285-12G>A rs1057521452
NM_000051.4(ATM):c.3285-13_3285-9del rs2082112477
NM_000051.4(ATM):c.3285-13del rs1245305174
NM_000051.4(ATM):c.3285-14T>C rs2082112216
NM_000051.4(ATM):c.3285-16G>A
NM_000051.4(ATM):c.3285-16G>C
NM_000051.4(ATM):c.3285-27_3285-16del
NM_000051.4(ATM):c.3285-5T>C rs876659715
NM_000051.4(ATM):c.3285-7T>C rs913535107
NM_000051.4(ATM):c.3285-8G>A rs1469259085
NM_000051.4(ATM):c.3285-8G>C rs1469259085
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3288G>A (p.Leu1096=) rs2135642354
NM_000051.4(ATM):c.3291C>T (p.Phe1097=)
NM_000051.4(ATM):c.3300G>T (p.Thr1100=) rs587780621
NM_000051.4(ATM):c.331+10G>C rs755557468
NM_000051.4(ATM):c.331+11T>C
NM_000051.4(ATM):c.331+12T>C rs2135039169
NM_000051.4(ATM):c.331+13A>G
NM_000051.4(ATM):c.331+17A>G
NM_000051.4(ATM):c.331+17A>T
NM_000051.4(ATM):c.331+18T>C
NM_000051.4(ATM):c.331+18T>G
NM_000051.4(ATM):c.331+19T>G
NM_000051.4(ATM):c.331+19_331+25del
NM_000051.4(ATM):c.331+20A>G
NM_000051.4(ATM):c.331+21_331+26del rs2078895533
NM_000051.4(ATM):c.331+8A>G rs878853503
NM_000051.4(ATM):c.3312T>C (p.Ser1104=)
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
NM_000051.4(ATM):c.3316A>C (p.Arg1106=) rs2135643101
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
NM_000051.4(ATM):c.332-1009A>G
NM_000051.4(ATM):c.332-11T>A
NM_000051.4(ATM):c.332-11T>C rs1565356404
NM_000051.4(ATM):c.332-15T>G
NM_000051.4(ATM):c.332-16G>C rs2135120413
NM_000051.4(ATM):c.332-16G>T
NM_000051.4(ATM):c.332-16_332-13del
NM_000051.4(ATM):c.332-20A>G rs1555058985
NM_000051.4(ATM):c.332-20A>T
NM_000051.4(ATM):c.332-20_332-17del rs898739905
NM_000051.4(ATM):c.332-4A>T rs2135120646
NM_000051.4(ATM):c.332-7G>A rs1591474291
NM_000051.4(ATM):c.332-7G>C rs1591474291
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.332-8T>C
NM_000051.4(ATM):c.3321A>G (p.Leu1107=)
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
NM_000051.4(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.4(ATM):c.3330A>C (p.Ala1110=) rs1009383081
NM_000051.4(ATM):c.3337T>C (p.Leu1113=)
NM_000051.4(ATM):c.3339G>A (p.Leu1113=) rs1591632173
NM_000051.4(ATM):c.333A>G (p.Arg111=) rs2135120788
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3354A>T (p.Thr1118=)
NM_000051.4(ATM):c.3366T>C (p.Asn1122=) rs2135644622
NM_000051.4(ATM):c.3369A>T (p.Ala1123=) rs587780543
NM_000051.4(ATM):c.336A>G (p.Ala112=) rs777759909
NM_000051.4(ATM):c.336A>T (p.Ala112=) rs777759909
NM_000051.4(ATM):c.3372C>T (p.Tyr1124=) rs587779833
NM_000051.4(ATM):c.3375G>A (p.Leu1125=) rs760821273
NM_000051.4(ATM):c.3381T>C (p.Ala1127=) rs1371503633
NM_000051.4(ATM):c.339T>C (p.Pro113=) rs1555059023
NM_000051.4(ATM):c.339T>G (p.Pro113=)
NM_000051.4(ATM):c.3402+10A>G rs919002854
NM_000051.4(ATM):c.3402+13A>C rs2082125198
NM_000051.4(ATM):c.3402+13A>G
NM_000051.4(ATM):c.3402+16A>T
NM_000051.4(ATM):c.3402+17T>A
NM_000051.4(ATM):c.3402+18G>A rs752000273
NM_000051.4(ATM):c.3402+18G>C rs752000273
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3403-6T>C rs2082201418
NM_000051.4(ATM):c.3403-7T>C rs1335592958
NM_000051.4(ATM):c.3403-8T>C
NM_000051.4(ATM):c.3403-8_3403-4del rs1555091114
NM_000051.4(ATM):c.3403-9C>A rs375483605
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
NM_000051.4(ATM):c.3405C>T (p.Ser1135=) rs746829748
NM_000051.4(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.4(ATM):c.3420C>T (p.Asn1140=) rs1329688204
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)
NM_000051.4(ATM):c.342G>A (p.Arg114=) rs1555059036
NM_000051.4(ATM):c.3430T>C (p.Leu1144=) rs2135665912
NM_000051.4(ATM):c.3435T>C (p.Asp1145=) rs2082204446
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=) rs1591636407
NM_000051.4(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.4(ATM):c.3450A>G (p.Arg1150=) rs2135666527
NM_000051.4(ATM):c.3459T>G (p.Val1153=)
NM_000051.4(ATM):c.345A>C (p.Leu115=)
NM_000051.4(ATM):c.345A>G (p.Leu115=) rs2079235213
NM_000051.4(ATM):c.3460T>C (p.Leu1154=) rs1591636498
NM_000051.4(ATM):c.3463C>T (p.Leu1155=) rs1555091217
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
NM_000051.4(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.4(ATM):c.3480G>A (p.Val1160=) rs1001303564
NM_000051.4(ATM):c.3480G>T (p.Val1160=) rs1001303564
NM_000051.4(ATM):c.3484T>C (p.Leu1162=)
NM_000051.4(ATM):c.3489C>T (p.Ser1163=) rs864622097
NM_000051.4(ATM):c.3495C>T (p.Ser1165=) rs878853505
NM_000051.4(ATM):c.3498T>C (p.Pro1166=) rs1555091273
NM_000051.4(ATM):c.3501C>A (p.Ile1167=)
NM_000051.4(ATM):c.3501C>T (p.Ile1167=) rs1555091279
NM_000051.4(ATM):c.3507A>G (p.Glu1169=) rs1555091291
NM_000051.4(ATM):c.3513G>A (p.Gln1171=) rs757201878
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)
NM_000051.4(ATM):c.3528G>A (p.Leu1176=)
NM_000051.4(ATM):c.3528G>T (p.Leu1176=) rs748335454
NM_000051.4(ATM):c.3531T>C (p.Cys1177=) rs876659546
NM_000051.4(ATM):c.3534A>G (p.Lys1178=)
NM_000051.4(ATM):c.3543A>G (p.Lys1181=) rs1555091382
NM_000051.4(ATM):c.354A>G (p.Gln118=) rs1188306380
NM_000051.4(ATM):c.3553T>C (p.Leu1185=)
NM_000051.4(ATM):c.3570G>A (p.Val1190=) rs1347241379
NM_000051.4(ATM):c.3576+10G>T
NM_000051.4(ATM):c.3576+12_3576+14del
NM_000051.4(ATM):c.3576+7A>G rs761486334
NM_000051.4(ATM):c.3576+8T>C rs1591637198
NM_000051.4(ATM):c.3576+9G>A
NM_000051.4(ATM):c.3577-10G>A rs1343046904
NM_000051.4(ATM):c.3577-10G>C
NM_000051.4(ATM):c.3577-11G>C rs2135685988
NM_000051.4(ATM):c.3577-13_3577-12del rs730881288
NM_000051.4(ATM):c.3577-14T>C rs2082292356
NM_000051.4(ATM):c.3577-14_3577-12del rs730881288
NM_000051.4(ATM):c.3577-15T>C rs1057521733
NM_000051.4(ATM):c.3577-16T>A
NM_000051.4(ATM):c.3577-16T>G
NM_000051.4(ATM):c.3577-17del
NM_000051.4(ATM):c.3577-18A>G rs2135685737
NM_000051.4(ATM):c.3577-19G>A
NM_000051.4(ATM):c.3577-20T>G rs921452019
NM_000051.4(ATM):c.3577-4G>T rs2135686331
NM_000051.4(ATM):c.3577-5T>C rs1555092229
NM_000051.4(ATM):c.3577-6G>C
NM_000051.4(ATM):c.3577-8T>C rs1555092222
NM_000051.4(ATM):c.3577-9T>G
NM_000051.4(ATM):c.3579T>G (p.Val1193=) rs1555092241
NM_000051.4(ATM):c.3582A>G (p.Leu1194=) rs1591640938
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)
NM_000051.4(ATM):c.3594T>C (p.Ser1198=) rs1555092263
NM_000051.4(ATM):c.3597A>G (p.Glu1199=) rs2135687051
NM_000051.4(ATM):c.3600T>C (p.Thr1200=)
NM_000051.4(ATM):c.3603T>C (p.Phe1201=) rs1591641079
NM_000051.4(ATM):c.3606A>C (p.Gly1202=) rs1189826741
NM_000051.4(ATM):c.3609T>C (p.Tyr1203=)
NM_000051.4(ATM):c.360C>G (p.Leu120=) rs749489010
NM_000051.4(ATM):c.360C>T (p.Leu120=) rs749489010
NM_000051.4(ATM):c.3612A>G (p.Arg1204=)
NM_000051.4(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.4(ATM):c.361T>C (p.Leu121=) rs587782178
NM_000051.4(ATM):c.3621A>G (p.Glu1207=) rs2135687824
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
NM_000051.4(ATM):c.3633A>G (p.Ala1211=) rs2135688329
NM_000051.4(ATM):c.3636T>C (p.Ser1212=) rs2135688431
NM_000051.4(ATM):c.3651G>C (p.Leu1217=)
NM_000051.4(ATM):c.3654T>A (p.Val1218=) rs2135688939
NM_000051.4(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.4(ATM):c.3666A>G (p.Leu1222=)
NM_000051.4(ATM):c.3669T>C (p.Asn1223=) rs1591641397
NM_000051.4(ATM):c.3678T>C (p.Asp1226=) rs1591641476
NM_000051.4(ATM):c.3681T>C (p.Thr1227=) rs1388109606
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=) rs2082303743
NM_000051.4(ATM):c.3690C>T (p.Asn1230=) rs1555092475
NM_000051.4(ATM):c.3691T>C (p.Leu1231=) rs1210990672
NM_000051.4(ATM):c.369T>C (p.Tyr123=)
NM_000051.4(ATM):c.36C>T (p.Cys12=) rs2135005147
NM_000051.4(ATM):c.3702T>C (p.Phe1234=)
NM_000051.4(ATM):c.3714A>G (p.Leu1238=)
NM_000051.4(ATM):c.372C>T (p.Ile124=) rs773495195
NM_000051.4(ATM):c.3732T>C (p.Ile1244=) rs2135690957
NM_000051.4(ATM):c.3741C>T (p.Phe1247=) rs780396420
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=) rs1555092589
NM_000051.4(ATM):c.3746+10T>C
NM_000051.4(ATM):c.3746+11A>G rs2082309757
NM_000051.4(ATM):c.3746+12C>T
NM_000051.4(ATM):c.3746+13A>G rs777055245
NM_000051.4(ATM):c.3746+15_3746+19del
NM_000051.4(ATM):c.3746+16A>G
NM_000051.4(ATM):c.3746+18A>G rs2082310429
NM_000051.4(ATM):c.3746+18A>T
NM_000051.4(ATM):c.3746+19T>A
NM_000051.4(ATM):c.3746+19T>C
NM_000051.4(ATM):c.3746+20A>G rs1555092607
NM_000051.4(ATM):c.3746+20_3746+21del rs2135691794
NM_000051.4(ATM):c.3746+7T>G
NM_000051.4(ATM):c.3746+8T>G
NM_000051.4(ATM):c.3746+9A>G
NM_000051.4(ATM):c.3747-10C>A
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-10C>T
NM_000051.4(ATM):c.3747-11T>C rs2135703873
NM_000051.4(ATM):c.3747-14T>G rs2082371250
NM_000051.4(ATM):c.3747-16A>T
NM_000051.4(ATM):c.3747-19T>C
NM_000051.4(ATM):c.3747-7T>C rs1057523136
NM_000051.4(ATM):c.3750T>C (p.Ser1250=) rs2135704195
NM_000051.4(ATM):c.3753T>C (p.Cys1251=) rs2135704274
NM_000051.4(ATM):c.3768T>A (p.Ile1256=) rs765538231
NM_000051.4(ATM):c.3771A>G (p.Pro1257=) rs1057523320
NM_000051.4(ATM):c.3771A>T (p.Pro1257=)
NM_000051.4(ATM):c.3775C>T (p.Leu1259=)
NM_000051.4(ATM):c.3780G>A (p.Val1260=) rs2135705020
NM_000051.4(ATM):c.3783T>C (p.Ile1261=) rs1005444925
NM_000051.4(ATM):c.3786A>G (p.Arg1262=) rs2135705167
NM_000051.4(ATM):c.3789T>C (p.Ser1263=)
NM_000051.4(ATM):c.3792T>C (p.His1264=) rs2135705306
NM_000051.4(ATM):c.3801G>A (p.Glu1267=)
NM_000051.4(ATM):c.3804G>A (p.Val1268=)
NM_000051.4(ATM):c.3807G>A (p.Lys1269=) rs2135705663
NM_000051.4(ATM):c.3810C>A (p.Ser1270=) rs2135705736
NM_000051.4(ATM):c.3810C>T (p.Ser1270=) rs2135705736
NM_000051.4(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.4(ATM):c.3816T>C (p.Ala1272=)
NM_000051.4(ATM):c.381A>C (p.Thr127=)
NM_000051.4(ATM):c.3822G>A (p.Gln1274=)
NM_000051.4(ATM):c.3828A>G (p.Gln1276=) rs1318728821
NM_000051.4(ATM):c.3831G>A (p.Glu1277=) rs587781787
NM_000051.4(ATM):c.3834C>T (p.Asp1278=)
NM_000051.4(ATM):c.3840A>G (p.Lys1280=) rs2135706465
NM_000051.4(ATM):c.3846T>C (p.Leu1282=) rs2135706640
NM_000051.4(ATM):c.3847C>T (p.Leu1283=)
NM_000051.4(ATM):c.3849A>G (p.Leu1283=) rs1591645848
NM_000051.4(ATM):c.384G>A (p.Val128=) rs1555059177
NM_000051.4(ATM):c.384G>C (p.Val128=) rs1555059177
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
NM_000051.4(ATM):c.3882T>C (p.Ile1294=) rs1167387894
NM_000051.4(ATM):c.3888T>C (p.Pro1296=) rs1555093582
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=) rs2135707669
NM_000051.4(ATM):c.3897C>A (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3897C>G (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3898T>C (p.Tyr1300His) rs1591646097
NM_000051.4(ATM):c.3909C>T (p.Thr1303=) rs1555093618
NM_000051.4(ATM):c.3915C>T (p.Asp1305=) rs1429663437
NM_000051.4(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.4(ATM):c.3933A>G (p.Gln1311=) rs1060504304
NM_000051.4(ATM):c.3936A>G (p.Arg1312=)
NM_000051.4(ATM):c.3945T>A (p.Ala1315=) rs2135709163
NM_000051.4(ATM):c.3948C>T (p.Thr1316=) rs2135709208
NM_000051.4(ATM):c.3954C>T (p.Val1318=)
NM_000051.4(ATM):c.3960T>C (p.Asp1320=) rs995275833
NM_000051.4(ATM):c.3972T>C (p.Ser1324=)
NM_000051.4(ATM):c.3979T>C (p.Leu1327=) rs2135709876
NM_000051.4(ATM):c.3981A>G (p.Leu1327=)
NM_000051.4(ATM):c.3984G>A (p.Leu1328=) rs1591646593
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+12A>G rs1057520703
NM_000051.4(ATM):c.3993+12A>T
NM_000051.4(ATM):c.3993+16T>G rs2135710569
NM_000051.4(ATM):c.3993+19T>C
NM_000051.4(ATM):c.3993+20G>A
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.3993+6G>C
NM_000051.4(ATM):c.3993+6G>T rs878853508
NM_000051.4(ATM):c.3993+8T>G
NM_000051.4(ATM):c.3993+9T>C rs2135710402
NM_000051.4(ATM):c.3994-10G>C rs186589241
NM_000051.4(ATM):c.3994-11T>G
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>A rs1057520398
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.3994-14T>A
NM_000051.4(ATM):c.3994-14T>G rs1255634399
NM_000051.4(ATM):c.3994-15T>A rs2135734597
NM_000051.4(ATM):c.3994-16T>A
NM_000051.4(ATM):c.3994-18A>T
NM_000051.4(ATM):c.3994-4G>C rs1060504259
NM_000051.4(ATM):c.3994-8C>T rs2135734775
NM_000051.4(ATM):c.3994-9C>A rs767111803
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.3996T>C (p.Ile1332=) rs1180449859
NM_000051.4(ATM):c.3999T>C (p.Asp1333=) rs1591655534
NM_000051.4(ATM):c.399T>C (p.Asn133=)
NM_000051.4(ATM):c.4002C>T (p.His1334=) rs876659622
NM_000051.4(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.4(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.4(ATM):c.4029T>C (p.Ile1343=) rs2135735847
NM_000051.4(ATM):c.402T>C (p.Gly134=)
NM_000051.4(ATM):c.402T>G (p.Gly134=) rs2135123141
NM_000051.4(ATM):c.4032G>A (p.Val1344=) rs769871715
NM_000051.4(ATM):c.4035G>A (p.Val1345=) rs2135735989
NM_000051.4(ATM):c.4038G>A (p.Glu1346=) rs1591655790
NM_000051.4(ATM):c.4053A>G (p.Leu1351=) rs1565452695
NM_000051.4(ATM):c.405T>A (p.Ala135=)
NM_000051.4(ATM):c.405T>G (p.Ala135=) rs2135123254
NM_000051.4(ATM):c.4062A>C (p.Pro1354=) rs1555095974
NM_000051.4(ATM):c.4062A>T (p.Pro1354=) rs1555095974
NM_000051.4(ATM):c.4065A>G (p.Ala1355=)
NM_000051.4(ATM):c.4077C>G (p.Ala1359=) rs375606854
NM_000051.4(ATM):c.4083G>A (p.Gln1361=) rs863224570
NM_000051.4(ATM):c.4086C>T (p.Ser1362=)
NM_000051.4(ATM):c.408T>A (p.Ile136=) rs2135123307
NM_000051.4(ATM):c.4092C>T (p.Asp1364=) rs876660956
NM_000051.4(ATM):c.4095C>G (p.Leu1365=) rs2135737731
NM_000051.4(ATM):c.4095C>T (p.Leu1365=) rs2135737731
NM_000051.4(ATM):c.4104T>C (p.Phe1368=) rs569614591
NM_000051.4(ATM):c.4107A>G (p.Ser1369=) rs2135738048
NM_000051.4(ATM):c.4109+11T>G rs749158400
NM_000051.4(ATM):c.4109+13T>C rs2082569194
NM_000051.4(ATM):c.4109+16A>G rs2135738603
NM_000051.4(ATM):c.4109+17C>G
NM_000051.4(ATM):c.4109+19T>C
NM_000051.4(ATM):c.4109+20A>G
NM_000051.4(ATM):c.4109+20dup
NM_000051.4(ATM):c.4109+7A>G rs2135738309
NM_000051.4(ATM):c.4109+8C>A rs1591656404
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4109+9A>G rs730881289
NM_000051.4(ATM):c.4110-11A>G
NM_000051.4(ATM):c.4110-11A>T rs760715107
NM_000051.4(ATM):c.4110-12T>C rs2135749934
NM_000051.4(ATM):c.4110-14C>T
NM_000051.4(ATM):c.4110-16C>A rs2135749803
NM_000051.4(ATM):c.4110-4T>G rs777186156
NM_000051.4(ATM):c.4110-5G>C
NM_000051.4(ATM):c.4110-6T>C rs1060504277
NM_000051.4(ATM):c.4110-8T>C rs2135750082
NM_000051.4(ATM):c.4110-9C>T rs730881367
NM_000051.4(ATM):c.4125T>A (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4125T>C (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4128T>G (p.Pro1376=) rs2135750893
NM_000051.4(ATM):c.4131T>C (p.Asn1377=) rs2082639582
NM_000051.4(ATM):c.4134A>G (p.Pro1378=) rs1591660328
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.4(ATM):c.4146A>C (p.Pro1382=)
NM_000051.4(ATM):c.4149G>C (p.Ser1383=)
NM_000051.4(ATM):c.4149G>T (p.Ser1383=) rs749180334
NM_000051.4(ATM):c.4152T>C (p.His1384=) rs1555096888
NM_000051.4(ATM):c.4155G>A (p.Val1385=) rs2082641997
NM_000051.4(ATM):c.4173C>G (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4173C>T (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4176T>C (p.Tyr1392=)
NM_000051.4(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4179C>T (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4185T>C (p.Asn1395=) rs2135752553
NM_000051.4(ATM):c.4188T>C (p.Cys1396=) rs1565455129
NM_000051.4(ATM):c.4197C>T (p.Thr1399=) rs2135752951
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
NM_000051.4(ATM):c.4206A>G (p.Lys1402=)
NM_000051.4(ATM):c.4209C>T (p.Ser1403=) rs876658701
NM_000051.4(ATM):c.420T>C (p.Asp140=) rs1591475108
NM_000051.4(ATM):c.4227C>G (p.Ser1409=) rs1555097018
NM_000051.4(ATM):c.4227C>T (p.Ser1409=) rs1555097018
NM_000051.4(ATM):c.4236+10C>T rs2135754219
NM_000051.4(ATM):c.4236+13G>C rs2135754357
NM_000051.4(ATM):c.4236+15_4236+17del rs1064794349
NM_000051.4(ATM):c.4236+16G>A rs2135754395
NM_000051.4(ATM):c.4236+17A>T
NM_000051.4(ATM):c.4236+18G>A
NM_000051.4(ATM):c.4236+19T>G rs2082650329
NM_000051.4(ATM):c.4236+21del
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.4236+9A>G rs1591661022
NM_000051.4(ATM):c.4236+9dup rs2135754201
NM_000051.4(ATM):c.4237-10T>C rs1312684854
NM_000051.4(ATM):c.4237-12T>C
NM_000051.4(ATM):c.4237-13G>T
NM_000051.4(ATM):c.4237-13_4237-10del
NM_000051.4(ATM):c.4237-13_4237-12del rs1555097353
NM_000051.4(ATM):c.4237-14T>G
NM_000051.4(ATM):c.4237-16T>A
NM_000051.4(ATM):c.4237-16T>C
NM_000051.4(ATM):c.4237-18A>C rs756842639
NM_000051.4(ATM):c.4237-18_4237-17del
NM_000051.4(ATM):c.4237-19A>C rs753311330
NM_000051.4(ATM):c.4237-19A>G rs753311330
NM_000051.4(ATM):c.4237-20T>C rs2135758679
NM_000051.4(ATM):c.4237-20T>G
NM_000051.4(ATM):c.4237-7T>C rs1439775115
NM_000051.4(ATM):c.4237-8T>A
NM_000051.4(ATM):c.4237-9_4237-7del rs1555097355
NM_000051.4(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.4(ATM):c.4242C>T (p.Ser1414=) rs2135759239
NM_000051.4(ATM):c.4248G>A (p.Gln1416=) rs1233637041
NM_000051.4(ATM):c.4257T>G (p.Leu1419=)
NM_000051.4(ATM):c.4260T>C (p.Leu1420=) rs2135759675
NM_000051.4(ATM):c.4263C>T (p.Ala1421=) rs1373073134
NM_000051.4(ATM):c.4269T>C (p.Cys1423=)
NM_000051.4(ATM):c.4278A>G (p.Ala1426=) rs2135760176
NM_000051.4(ATM):c.4281T>C (p.Ala1427=) rs876659745
NM_000051.4(ATM):c.4290T>C (p.Asn1430=) rs1431970078
NM_000051.4(ATM):c.4293T>C (p.Asn1431=)
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.4(ATM):c.429C>T (p.Asn143=) rs1416280463
NM_000051.4(ATM):c.4302G>A (p.Lys1434=) rs876658751
NM_000051.4(ATM):c.4308C>T (p.His1436=) rs1591662977
NM_000051.4(ATM):c.4311A>G (p.Arg1437=) rs1555097507
NM_000051.4(ATM):c.4317T>G (p.Leu1439=) rs2135761736
NM_000051.4(ATM):c.4323A>T (p.Ile1441=) rs587779839
NM_000051.4(ATM):c.4329C>T (p.His1443=)
NM_000051.4(ATM):c.432A>T (p.Ile144=)
NM_000051.4(ATM):c.4330C>T (p.Leu1444=) rs2135762205
NM_000051.4(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.4(ATM):c.4335T>C (p.Phe1445=) rs761225071
NM_000051.4(ATM):c.4338T>A (p.Val1446=) rs2135762761
NM_000051.4(ATM):c.4347A>G (p.Leu1449=)
NM_000051.4(ATM):c.4350G>A (p.Leu1450=) rs1565456541
NM_000051.4(ATM):c.435A>C (p.Leu145=) rs775476710
NM_000051.4(ATM):c.435A>G (p.Leu145=) rs775476710
NM_000051.4(ATM):c.4362A>G (p.Lys1454=) rs148993589
NM_000051.4(ATM):c.4365T>C (p.Ser1455=)
NM_000051.4(ATM):c.4368C>T (p.Gly1456=)
NM_000051.4(ATM):c.4371A>G (p.Leu1457=)
NM_000051.4(ATM):c.4386C>A (p.Ala1462=) rs1433672958
NM_000051.4(ATM):c.4386C>G (p.Ala1462=)
NM_000051.4(ATM):c.4386C>T (p.Ala1462=) rs1433672958
NM_000051.4(ATM):c.4389T>C (p.Phe1463=) rs1555097753
NM_000051.4(ATM):c.438C>G (p.Leu146=) rs1591475272
NM_000051.4(ATM):c.438C>T (p.Leu146=) rs1591475272
NM_000051.4(ATM):c.4396C>A (p.Arg1466=) rs730881369
NM_000051.4(ATM):c.4398A>T (p.Arg1466=) rs142728382
NM_000051.4(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=) rs1057521912
NM_000051.4(ATM):c.4413T>G (p.Thr1471=) rs2135766153
NM_000051.4(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.4(ATM):c.441A>G (p.Lys147=) rs1555059372
NM_000051.4(ATM):c.4422C>T (p.His1474=) rs1555097849
NM_000051.4(ATM):c.4425T>C (p.Tyr1475=) rs2135766671
NM_000051.4(ATM):c.4431C>T (p.Asn1477=) rs571989748
NM_000051.4(ATM):c.4434A>G (p.Gln1478=) rs2082686560
NM_000051.4(ATM):c.4434A>T (p.Gln1478His) rs2082686560
NM_000051.4(ATM):c.4436+10A>T
NM_000051.4(ATM):c.4436+12A>G rs1057521715
NM_000051.4(ATM):c.4436+13T>C rs1555097905
NM_000051.4(ATM):c.4436+14T>G rs762832046
NM_000051.4(ATM):c.4436+15T>C
NM_000051.4(ATM):c.4436+16A>G
NM_000051.4(ATM):c.4436+17G>C
NM_000051.4(ATM):c.4436+18A>T rs1317954521
NM_000051.4(ATM):c.4436+19C>G rs539302674
NM_000051.4(ATM):c.4436+19C>T rs539302674
NM_000051.4(ATM):c.4436+5A>G rs2082687178
NM_000051.4(ATM):c.4436+7A>G rs749971237
NM_000051.4(ATM):c.4436+8_4436+10del
NM_000051.4(ATM):c.4436+9C>T rs1565457090
NM_000051.4(ATM):c.4437-10C>A rs1397770130
NM_000051.4(ATM):c.4437-10C>T rs1397770130
NM_000051.4(ATM):c.4437-13C>T rs769462032
NM_000051.4(ATM):c.4437-15T>G
NM_000051.4(ATM):c.4437-5A>G rs876658290
NM_000051.4(ATM):c.4437-7A>C rs370354306
NM_000051.4(ATM):c.4437-7dup rs1565460797
NM_000051.4(ATM):c.4437-8T>C
NM_000051.4(ATM):c.4437-8T>G rs765929660
NM_000051.4(ATM):c.4437G>A (p.Arg1479=) rs1591673584
NM_000051.4(ATM):c.4443T>C (p.Ser1481=) rs2135797265
NM_000051.4(ATM):c.4443T>G (p.Ser1481=)
NM_000051.4(ATM):c.4446T>C (p.Cys1482=)
NM_000051.4(ATM):c.4449C>A (p.Ile1483=)
NM_000051.4(ATM):c.444C>T (p.Asp148=)
NM_000051.4(ATM):c.4455T>C (p.Asp1485=)
NM_000051.4(ATM):c.4458G>A (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.4458G>T (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.4461A>G (p.Ser1487=) rs2082859007
NM_000051.4(ATM):c.4462T>C (p.Leu1488=) rs1591673809
NM_000051.4(ATM):c.4470C>T (p.Ser1490=) rs2135798259
NM_000051.4(ATM):c.4485T>C (p.Cys1495=) rs2135798721
NM_000051.4(ATM):c.4488C>T (p.Asp1496=) rs772833802
NM_000051.4(ATM):c.4489T>C (p.Leu1497=)
NM_000051.4(ATM):c.4491A>G (p.Leu1497=) rs878853511
NM_000051.4(ATM):c.4506C>T (p.Cys1502=) rs876659908
NM_000051.4(ATM):c.4515C>G (p.Ala1505=) rs540798997
NM_000051.4(ATM):c.4518G>C (p.Val1506=) rs1057524110
NM_000051.4(ATM):c.4518G>T (p.Val1506=) rs1057524110
NM_000051.4(ATM):c.4521T>C (p.Thr1507=)
NM_000051.4(ATM):c.4521T>G (p.Thr1507=) rs1555099885
NM_000051.4(ATM):c.4524C>T (p.Tyr1508=) rs1555099892
NM_000051.4(ATM):c.4536T>C (p.Ala1512=) rs1555099909
NM_000051.4(ATM):c.4537C>T (p.Leu1513=) rs2082867393
NM_000051.4(ATM):c.4539A>G (p.Leu1513=)
NM_000051.4(ATM):c.453T>C (p.Ser151=) rs2135125035
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.4551T>C (p.Leu1517=) rs1459998980
NM_000051.4(ATM):c.4557T>A (p.Val1519=) rs2135801173
NM_000051.4(ATM):c.4560T>C (p.Ile1520=) rs1057520925
NM_000051.4(ATM):c.4569A>C (p.Thr1523=) rs1555099963
NM_000051.4(ATM):c.4578C>A (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.4584G>A (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4584G>T (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4590G>A (p.Glu1530=)
NM_000051.4(ATM):c.4593G>A (p.Gln1531=) rs1591674814
NM_000051.4(ATM):c.4599G>A (p.Glu1533=) rs1274454004
NM_000051.4(ATM):c.459A>G (p.Arg153=) rs2135125274
NM_000051.4(ATM):c.45A>G (p.Leu15=)
NM_000051.4(ATM):c.4605G>A (p.Gln1535=)
NM_000051.4(ATM):c.4611+10T>A
NM_000051.4(ATM):c.4611+11G>T rs2135803264
NM_000051.4(ATM):c.4611+12A>G rs1057520230
NM_000051.4(ATM):c.4611+12A>T
NM_000051.4(ATM):c.4611+13C>T rs1565461868
NM_000051.4(ATM):c.4611+14T>C
NM_000051.4(ATM):c.4611+14T>G rs1270804277
NM_000051.4(ATM):c.4611+15C>G
NM_000051.4(ATM):c.4611+15C>T
NM_000051.4(ATM):c.4611+16A>G rs2082875990
NM_000051.4(ATM):c.4611+17T>A
NM_000051.4(ATM):c.4611+17T>C rs768500911
NM_000051.4(ATM):c.4611+18C>G
NM_000051.4(ATM):c.4611+18C>T rs1057522843
NM_000051.4(ATM):c.4611+6T>C rs1555100047
NM_000051.4(ATM):c.4611+8T>C rs1057522426
NM_000051.4(ATM):c.4611+8T>G rs1057522426
NM_000051.4(ATM):c.4612-10T>C rs2135809073
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4612-14T>C
NM_000051.4(ATM):c.4612-18T>C
NM_000051.4(ATM):c.4612-19C>A rs1336477936
NM_000051.4(ATM):c.4612-19C>T rs1336477936
NM_000051.4(ATM):c.4612-4T>A rs569983068
NM_000051.4(ATM):c.4612-5T>C
NM_000051.4(ATM):c.4612-6A>G rs2135809248
NM_000051.4(ATM):c.4612-8A>G rs1555100341
NM_000051.4(ATM):c.4612-9T>C
NM_000051.4(ATM):c.4620C>T (p.Asp1540=) rs1329153013
NM_000051.4(ATM):c.4624T>C (p.Leu1542=) rs876658826
NM_000051.4(ATM):c.462A>G (p.Lys154=) rs876659923
NM_000051.4(ATM):c.4632C>T (p.Tyr1544=) rs2135810212
NM_000051.4(ATM):c.4635A>G (p.Leu1545=) rs2135810263
NM_000051.4(ATM):c.4647C>T (p.Asn1549=) rs1300874775
NM_000051.4(ATM):c.4656T>C (p.Asn1552=) rs876658379
NM_000051.4(ATM):c.465C>T (p.Tyr155=) rs2079245609
NM_000051.4(ATM):c.4665C>G (p.Leu1555=) rs374431061
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.4(ATM):c.4671C>A (p.Ile1557=) rs966733287
NM_000051.4(ATM):c.4677T>C (p.Ile1559=) rs759660081
NM_000051.4(ATM):c.4680G>A (p.Lys1560=) rs2135811674
NM_000051.4(ATM):c.4683T>C (p.Leu1561=) rs2135811760
NM_000051.4(ATM):c.4698T>C (p.Pro1566=)
NM_000051.4(ATM):c.4701C>T (p.Asp1567=) rs1591677421
NM_000051.4(ATM):c.4704T>C (p.His1568=) rs1057522200
NM_000051.4(ATM):c.4707T>G (p.Val1569=) rs1591677478
NM_000051.4(ATM):c.4710T>G (p.Val1570=)
NM_000051.4(ATM):c.4716G>A (p.Lys1572=)
NM_000051.4(ATM):c.471T>C (p.Cys157=)
NM_000051.4(ATM):c.4728T>C (p.Ile1576=)
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.4(ATM):c.4731T>G (p.Thr1577=)
NM_000051.4(ATM):c.4740A>G (p.Lys1580=) rs2082923397
NM_000051.4(ATM):c.4746A>G (p.Lys1582=) rs1555100593
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=) rs1555100597
NM_000051.4(ATM):c.4752T>C (p.Ser1584=) rs1555100601
NM_000051.4(ATM):c.4758A>T (p.Gly1586=) rs2135813614
NM_000051.4(ATM):c.4761C>G (p.Pro1587=) rs769562370
NM_000051.4(ATM):c.4767A>G (p.Ser1589=) rs1591677805
NM_000051.4(ATM):c.4770C>A (p.Leu1590=) rs749475519
NM_000051.4(ATM):c.4773G>A (p.Leu1591=)
NM_000051.4(ATM):c.4776+10A>T rs2135814400
NM_000051.4(ATM):c.4776+10del rs878853512
NM_000051.4(ATM):c.4776+11T>C
NM_000051.4(ATM):c.4776+12T>G
NM_000051.4(ATM):c.4776+15A>G
NM_000051.4(ATM):c.4776+17C>T
NM_000051.4(ATM):c.4776+18_4776+20del
NM_000051.4(ATM):c.4776+20C>T
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.4776+7A>C rs2082927524
NM_000051.4(ATM):c.4776+9A>G rs2135814376
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4777-11T>G
NM_000051.4(ATM):c.4777-13_4777-10dup
NM_000051.4(ATM):c.4777-14A>G
NM_000051.4(ATM):c.4777-16A>G rs942981609
NM_000051.4(ATM):c.4777-7C>G rs1565465976
NM_000051.4(ATM):c.4777-7C>T rs1565465976
NM_000051.4(ATM):c.4777-9C>T rs1214975942
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.4(ATM):c.4794C>G (p.Leu1598=)
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
NM_000051.4(ATM):c.4797A>C (p.Ser1599=) rs1371876868
NM_000051.4(ATM):c.4803T>C (p.Ser1601=) rs964364958
NM_000051.4(ATM):c.480T>A (p.Ser160=) rs2135125892
NM_000051.4(ATM):c.480T>C (p.Ser160=) rs2135125892
NM_000051.4(ATM):c.4815A>C (p.Ala1605=) rs1591684513
NM_000051.4(ATM):c.4818T>C (p.Leu1606=) rs772074468
NM_000051.4(ATM):c.4824G>A (p.Leu1608=) rs1239479673
NM_000051.4(ATM):c.4833T>A (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4833T>C (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4833T>G (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4836A>G (p.Glu1612=) rs2135835525
NM_000051.4(ATM):c.483G>A (p.Gln161=) rs864622742
NM_000051.4(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.4(ATM):c.4842A>G (p.Leu1614=) rs1057520429
NM_000051.4(ATM):c.4848T>C (p.Asp1616=) rs2083040302
NM_000051.4(ATM):c.4854A>T (p.Arg1618=)
NM_000051.4(ATM):c.4857A>G (p.Arg1619=) rs1555101850
NM_000051.4(ATM):c.4860A>G (p.Gln1620=) rs1057520446
NM_000051.4(ATM):c.4861C>T (p.Leu1621=) rs759289039
NM_000051.4(ATM):c.4863G>C (p.Leu1621=) rs2135836530
NM_000051.4(ATM):c.4866A>G (p.Glu1622=) rs2135836682
NM_000051.4(ATM):c.4869A>C (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.4869A>G (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.486A>G (p.Gln162=)
NM_000051.4(ATM):c.4890C>T (p.Asp1630=) rs1591685165
NM_000051.4(ATM):c.4893T>A (p.Ile1631=) rs1591685188
NM_000051.4(ATM):c.4893T>C (p.Ile1631=)
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.4902T>C (p.Ala1634=) rs2135838120
NM_000051.4(ATM):c.4909+10T>G rs2135838699
NM_000051.4(ATM):c.4909+11T>A
NM_000051.4(ATM):c.4909+11T>C
NM_000051.4(ATM):c.4909+14A>G
NM_000051.4(ATM):c.4909+14A>T
NM_000051.4(ATM):c.4909+15T>A
NM_000051.4(ATM):c.4909+17A>G rs550300834
NM_000051.4(ATM):c.4909+18C>T
NM_000051.4(ATM):c.4909+19A>G
NM_000051.4(ATM):c.4909+19A>T rs747032236
NM_000051.4(ATM):c.4909+20T>C rs1401279002
NM_000051.4(ATM):c.4909+5T>C rs2083048367
NM_000051.4(ATM):c.4909+6A>G rs2083048548
NM_000051.4(ATM):c.4909+7A>G rs2135838624
NM_000051.4(ATM):c.4909+8T>C
NM_000051.4(ATM):c.4909+9T>G rs1555101970
NM_000051.4(ATM):c.4910-10T>C rs2083173059
NM_000051.4(ATM):c.4910-14A>C
NM_000051.4(ATM):c.4910-17T>G rs1238547320
NM_000051.4(ATM):c.4910-7T>A rs3092872
NM_000051.4(ATM):c.4910-7T>C rs3092872
NM_000051.4(ATM):c.4910-8A>G rs1555103144
NM_000051.4(ATM):c.4910-9T>C
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4917G>T (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4929T>A (p.Ile1643=) rs2135861750
NM_000051.4(ATM):c.4935G>A (p.Val1645=)
NM_000051.4(ATM):c.4939C>T (p.Leu1647=) rs1157451668
NM_000051.4(ATM):c.4941A>G (p.Leu1647=) rs786201667
NM_000051.4(ATM):c.4947C>G (p.Val1649=) rs1436324961
NM_000051.4(ATM):c.4953G>A (p.Leu1651=) rs786201297
NM_000051.4(ATM):c.4956G>A (p.Leu1652=) rs2135862508
NM_000051.4(ATM):c.496+11A>C
NM_000051.4(ATM):c.496+11A>G
NM_000051.4(ATM):c.496+14G>C rs776887214
NM_000051.4(ATM):c.496+14GTT[2] rs1330640039
NM_000051.4(ATM):c.496+16T>C
NM_000051.4(ATM):c.496+17G>T
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.496+19T>G
NM_000051.4(ATM):c.496+20G>T rs751245102
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.496+7T>G rs2135126753
NM_000051.4(ATM):c.496+8T>C rs2135126803
NM_000051.4(ATM):c.496+9T>C
NM_000051.4(ATM):c.496+9T>G rs2135126833
NM_000051.4(ATM):c.4962A>G (p.Leu1654=) rs2135862796
NM_000051.4(ATM):c.4965C>T (p.Ser1655=) rs1555103252
NM_000051.4(ATM):c.497-2662AAG[2]
NM_000051.4(ATM):c.497-2662AAG[3]
NM_000051.4(ATM):c.497-4T>G rs876659621
NM_000051.4(ATM):c.497-5T>C rs1591499452
NM_000051.4(ATM):c.497-7T>A
NM_000051.4(ATM):c.497-7T>C
NM_000051.4(ATM):c.497-7T>G
NM_000051.4(ATM):c.497-9T>G rs2079693632
NM_000051.4(ATM):c.4983C>T (p.His1661=) rs2083180642
NM_000051.4(ATM):c.4989T>G (p.Gly1663=) rs1591693006
NM_000051.4(ATM):c.498A>G (p.Glu166=) rs587779842
NM_000051.4(ATM):c.499T>C (p.Leu167=) rs2135221733
NM_000051.4(ATM):c.5005+10A>G rs2083183551
NM_000051.4(ATM):c.5005+12T>A rs2135864456
NM_000051.4(ATM):c.5005+14dup
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.5005+15T>C rs377355762
NM_000051.4(ATM):c.5005+17C>A rs200688912
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5005+19C>G rs1064794787
NM_000051.4(ATM):c.5005+19C>T
NM_000051.4(ATM):c.5005+20T>C
NM_000051.4(ATM):c.5005+20T>G
NM_000051.4(ATM):c.5006-10C>T rs2083315555
NM_000051.4(ATM):c.5006-12T>G rs2083315314
NM_000051.4(ATM):c.5006-14A>C rs2083314877
NM_000051.4(ATM):c.5006-14A>G
NM_000051.4(ATM):c.5006-17A>G
NM_000051.4(ATM):c.5006-17A>T
NM_000051.4(ATM):c.5006-19A>G
NM_000051.4(ATM):c.5006-4G>A rs1591701752
NM_000051.4(ATM):c.5006-4G>T
NM_000051.4(ATM):c.5006-5T>C
NM_000051.4(ATM):c.5006-6A>G rs1392301961
NM_000051.4(ATM):c.5006-8A>G rs1057520447
NM_000051.4(ATM):c.5010T>C (p.Ala1670=) rs1555104482
NM_000051.4(ATM):c.5010T>G (p.Ala1670=) rs1555104482
NM_000051.4(ATM):c.5019C>T (p.Ser1673=) rs1565473483
NM_000051.4(ATM):c.501G>A (p.Leu167=) rs1181703620
NM_000051.4(ATM):c.5023T>C (p.Leu1675=) rs876660275
NM_000051.4(ATM):c.5034G>A (p.Val1678=)
NM_000051.4(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.4(ATM):c.5046T>C (p.Asp1682=) rs2135889217
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5064A>C (p.Ile1688=) rs1565473763
NM_000051.4(ATM):c.5067A>G (p.Gln1689=) rs1555104621
NM_000051.4(ATM):c.5082A>G (p.Ala1694=) rs778014234
NM_000051.4(ATM):c.5085T>G (p.Ser1695=) rs2135890366
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=) rs786203476
NM_000051.4(ATM):c.5091C>T (p.Thr1697=) rs1555104680
NM_000051.4(ATM):c.5094G>A (p.Lys1698=)
NM_000051.4(ATM):c.5097C>A (p.Ala1699=) rs2135890740
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)
NM_000051.4(ATM):c.5103G>A (p.Lys1701=)
NM_000051.4(ATM):c.5106A>G (p.Leu1702=) rs2083331055
NM_000051.4(ATM):c.510G>C (p.Val170=) rs375682557
NM_000051.4(ATM):c.5115T>C (p.Asp1705=) rs876658685
NM_000051.4(ATM):c.5118A>G (p.Lys1706=) rs3218672
NM_000051.4(ATM):c.5121A>G (p.Glu1707=) rs2135891426
NM_000051.4(ATM):c.5124T>G (p.Leu1708=) rs864622668
NM_000051.4(ATM):c.5133C>G (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5133C>T (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5139A>C (p.Ile1713=) rs1233346885
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5145G>C (p.Leu1715=)
NM_000051.4(ATM):c.5145G>T (p.Leu1715=)
NM_000051.4(ATM):c.5154G>A (p.Leu1718=) rs1555104785
NM_000051.4(ATM):c.5163A>G (p.Thr1721=) rs1565474295
NM_000051.4(ATM):c.5169A>G (p.Val1723=) rs2135893173
NM_000051.4(ATM):c.516C>T (p.Phe172=) rs1591499730
NM_000051.4(ATM):c.5175T>C (p.Asp1725=) rs1555104803
NM_000051.4(ATM):c.5177+10_5177+13del
NM_000051.4(ATM):c.5177+14G>C rs2135893694
NM_000051.4(ATM):c.5177+15A>C
NM_000051.4(ATM):c.5177+15A>G
NM_000051.4(ATM):c.5177+16T>A rs2135893735
NM_000051.4(ATM):c.5177+17A>C
NM_000051.4(ATM):c.5177+19C>A
NM_000051.4(ATM):c.5177+19C>T
NM_000051.4(ATM):c.5177+20T>A
NM_000051.4(ATM):c.5177+20T>G
NM_000051.4(ATM):c.5177+7A>G rs2135893538
NM_000051.4(ATM):c.5177+9T>C rs767425639
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5178-11G>T rs200876654
NM_000051.4(ATM):c.5178-11del
NM_000051.4(ATM):c.5178-14del
NM_000051.4(ATM):c.5178-15A>C
NM_000051.4(ATM):c.5178-18T>C rs1057522381
NM_000051.4(ATM):c.5178-7T>C rs1555105564
NM_000051.4(ATM):c.5178-8T>G rs2135911389
NM_000051.4(ATM):c.5178-9T>A
NM_000051.4(ATM):c.5178-9T>C
NM_000051.4(ATM):c.5178-9T>G rs1555105562
NM_000051.4(ATM):c.517A>C (p.Arg173=) rs1591499740
NM_000051.4(ATM):c.5188C>A (p.Arg1730=) rs764389018
NM_000051.4(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.4(ATM):c.51T>C (p.His17=) rs1591446045
NM_000051.4(ATM):c.5205C>A (p.Thr1735=) rs1060504283
NM_000051.4(ATM):c.5205C>G (p.Thr1735=) rs1060504283
NM_000051.4(ATM):c.5208T>C (p.Cys1736=)
NM_000051.4(ATM):c.5217C>T (p.Asn1739=) rs876658271
NM_000051.4(ATM):c.5220T>C (p.Ile1740=)
NM_000051.4(ATM):c.5226C>T (p.Ala1742=) rs750881004
NM_000051.4(ATM):c.5229A>G (p.Thr1743=) rs878853519
NM_000051.4(ATM):c.522C>T (p.Leu174=) rs780173724
NM_000051.4(ATM):c.5232G>A (p.Lys1744=) rs2083440178
NM_000051.4(ATM):c.5235T>A (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>C (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>G (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5244T>C (p.Ser1748=) rs2083440966
NM_000051.4(ATM):c.5247C>T (p.Phe1749=) rs2083441197
NM_000051.4(ATM):c.5256T>A (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5256T>C (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5262G>A (p.Lys1754=) rs748900588
NM_000051.4(ATM):c.5268A>G (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.5268A>T (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.526C>T (p.Leu176=) rs375798802
NM_000051.4(ATM):c.5277A>T (p.Pro1759=) rs2135914528
NM_000051.4(ATM):c.5283G>C (p.Leu1761=)
NM_000051.4(ATM):c.5286C>T (p.Ala1762=)
NM_000051.4(ATM):c.5289T>C (p.Tyr1763=)
NM_000051.4(ATM):c.5292A>G (p.Leu1764=) rs786201703
NM_000051.4(ATM):c.5301T>C (p.Phe1767=) rs1468101040
NM_000051.4(ATM):c.5304A>G (p.Arg1768=) rs1591709095
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5313A>G (p.Arg1771=) rs1591709164
NM_000051.4(ATM):c.5319+11T>G
NM_000051.4(ATM):c.5319+12_5319+55dup
NM_000051.4(ATM):c.5319+14T>C
NM_000051.4(ATM):c.5319+15A>C rs2135916591
NM_000051.4(ATM):c.5319+15A>G rs2135916591
NM_000051.4(ATM):c.5319+17A>G rs1331649240
NM_000051.4(ATM):c.5319+22del rs2135916722
NM_000051.4(ATM):c.5319+6_5319+7dup rs2083447804
NM_000051.4(ATM):c.5319+7T>C rs925428128
NM_000051.4(ATM):c.5319+9_5319+11delinsTTC rs2135916413
NM_000051.4(ATM):c.5320-10T>G
NM_000051.4(ATM):c.5320-11T>C
NM_000051.4(ATM):c.5320-12C>T
NM_000051.4(ATM):c.5320-13C>A
NM_000051.4(ATM):c.5320-13C>T rs1565478723
NM_000051.4(ATM):c.5320-14C>A
NM_000051.4(ATM):c.5320-14C>T rs182663175
NM_000051.4(ATM):c.5320-19del
NM_000051.4(ATM):c.5320-20T>C rs2135926264
NM_000051.4(ATM):c.5320-20T>G
NM_000051.4(ATM):c.5320-5T>C rs1555106308
NM_000051.4(ATM):c.5320-6_5320-3del rs864622386
NM_000051.4(ATM):c.5320-7T>G rs863224292
NM_000051.4(ATM):c.5328A>G (p.Glu1776=)
NM_000051.4(ATM):c.5331A>G (p.Val1777=)
NM_000051.4(ATM):c.5349A>G (p.Glu1783=) rs1555106353
NM_000051.4(ATM):c.534T>C (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.534T>G (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.4(ATM):c.5358T>C (p.Phe1786=) rs876659725
NM_000051.4(ATM):c.5365C>T (p.Leu1789=) rs2135928017
NM_000051.4(ATM):c.5376A>T (p.Ile1792=) rs1287734608
NM_000051.4(ATM):c.537A>T (p.Ser179=) rs1555066338
NM_000051.4(ATM):c.5392C>T (p.Leu1798=) rs879254274
NM_000051.4(ATM):c.5394A>G (p.Leu1798=) rs2135928681
NM_000051.4(ATM):c.5406T>C (p.His1802=)
NM_000051.4(ATM):c.5409C>T (p.Asp1803=) rs1555106462
NM_000051.4(ATM):c.5425C>T (p.Leu1809=)
NM_000051.4(ATM):c.5430T>G (p.Thr1810=) rs1057522229
NM_000051.4(ATM):c.5436T>C (p.Ala1812=) rs1555106502
NM_000051.4(ATM):c.5436T>G (p.Ala1812=) rs1555106502
NM_000051.4(ATM):c.5442G>A (p.Leu1814=) rs2083505400
NM_000051.4(ATM):c.5448T>C (p.Ser1816=) rs766455425
NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu) rs2083506323
NM_000051.4(ATM):c.5457A>G (p.Thr1819=) rs1555106535
NM_000051.4(ATM):c.546T>G (p.Val182=) rs2135223336
NM_000051.4(ATM):c.5472T>A (p.Leu1824=) rs2135930756
NM_000051.4(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.5476T>C (p.Leu1826=) rs1555106563
NM_000051.4(ATM):c.5479T>C (p.Leu1827=) rs2135930931
NM_000051.4(ATM):c.5481A>G (p.Leu1827=) rs2135930953
NM_000051.4(ATM):c.5484G>A (p.Lys1828=)
NM_000051.4(ATM):c.5496+11T>G rs751491395
NM_000051.4(ATM):c.5496+13A>G
NM_000051.4(ATM):c.5496+13_5496+16del rs1382076363
NM_000051.4(ATM):c.5496+14T>G rs1172938746
NM_000051.4(ATM):c.5496+15T>G
NM_000051.4(ATM):c.5496+18T>G rs2135931607
NM_000051.4(ATM):c.5496+19C>T
NM_000051.4(ATM):c.5496+20del
NM_000051.4(ATM):c.5496+645T>C
NM_000051.4(ATM):c.5496+7_5496+9del rs878853523
NM_000051.4(ATM):c.5497-11G>T rs2135942166
NM_000051.4(ATM):c.5497-12T>G
NM_000051.4(ATM):c.5497-12del
NM_000051.4(ATM):c.5497-13T>G
NM_000051.4(ATM):c.5497-13_5497-10del
NM_000051.4(ATM):c.5497-15G>A rs3092828
NM_000051.4(ATM):c.5497-18T>G rs2135942080
NM_000051.4(ATM):c.5497-19A>G rs1555107231
NM_000051.4(ATM):c.5497-20G>T
NM_000051.4(ATM):c.5497-4C>G rs1002998981
NM_000051.4(ATM):c.5497-7A>G rs2135942246
NM_000051.4(ATM):c.5497-9A>G rs878853524
NM_000051.4(ATM):c.54T>C (p.Asp18=) rs786203926
NM_000051.4(ATM):c.5502A>G (p.Lys1834=)
NM_000051.4(ATM):c.5508C>T (p.Asp1836=) rs2135942603
NM_000051.4(ATM):c.5511T>C (p.Phe1837=)
NM_000051.4(ATM):c.5520T>C (p.Thr1840=) rs1591717575
NM_000051.4(ATM):c.5520T>G (p.Thr1840=)
NM_000051.4(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5523A>G (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5526T>A (p.Leu1842=) rs2135942991
NM_000051.4(ATM):c.5529A>G (p.Pro1843=) rs750037588
NM_000051.4(ATM):c.5529A>T (p.Pro1843=)
NM_000051.4(ATM):c.552A>G (p.Arg184=) rs2135223587
NM_000051.4(ATM):c.5532C>T (p.Tyr1844=)
NM_000051.4(ATM):c.5541T>C (p.His1847=) rs1555107326
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe) rs200842502
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.5559T>C (p.Asp1853=) rs1555107393
NM_000051.4(ATM):c.5565T>C (p.Asn1855=) rs1565481888
NM_000051.4(ATM):c.556T>C (p.Leu186=) rs2079700064
NM_000051.4(ATM):c.5571A>G (p.Ser1857=) rs777570286
NM_000051.4(ATM):c.5571A>T (p.Ser1857=) rs777570286
NM_000051.4(ATM):c.5577A>G (p.Arg1859=)
NM_000051.4(ATM):c.5583G>C (p.Leu1861=) rs781383087
NM_000051.4(ATM):c.5583G>T (p.Leu1861=) rs781383087
NM_000051.4(ATM):c.5586T>G (p.Leu1862=) rs1555107431
NM_000051.4(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.4(ATM):c.558A>G (p.Leu186=) rs991667156
NM_000051.4(ATM):c.5592A>G (p.Thr1864=) rs1426095621
NM_000051.4(ATM):c.5592A>T (p.Thr1864=) rs1426095621
NM_000051.4(ATM):c.5601G>A (p.Gln1867=) rs1555107464
NM_000051.4(ATM):c.5604A>C (p.Gly1868=)
NM_000051.4(ATM):c.5604A>G (p.Gly1868=)
NM_000051.4(ATM):c.5610C>T (p.Phe1870=) rs2083601271
NM_000051.4(ATM):c.5613C>G (p.Thr1871=) rs2083601650
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)
NM_000051.4(ATM):c.561G>T (p.Val187=)
NM_000051.4(ATM):c.5622T>C (p.Leu1874=) rs2135945293
NM_000051.4(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.4(ATM):c.5628C>T (p.His1876=) rs1237700879
NM_000051.4(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.4(ATM):c.5640G>T (p.Thr1880=) rs757103582
NM_000051.4(ATM):c.5644C>A (p.Arg1882=) rs786204433
NM_000051.4(ATM):c.564T>C (p.Ala188=) rs2135224096
NM_000051.4(ATM):c.5652A>G (p.Thr1884=) rs1591718571
NM_000051.4(ATM):c.5655C>A (p.Thr1885=)
NM_000051.4(ATM):c.5655C>G (p.Thr1885=) rs1555107577
NM_000051.4(ATM):c.5655C>T (p.Thr1885=) rs1555107577
NM_000051.4(ATM):c.5658T>A (p.Pro1886=) rs940182945
NM_000051.4(ATM):c.565A>C (p.Arg189=) rs2079701086
NM_000051.4(ATM):c.5661A>T (p.Ala1887=) rs876658939
NM_000051.4(ATM):c.5674+11A>T
NM_000051.4(ATM):c.5674+13A>G rs1555107618
NM_000051.4(ATM):c.5674+14T>A rs2083608444
NM_000051.4(ATM):c.5674+14T>C rs2083608444
NM_000051.4(ATM):c.5674+19A>C rs2135946949
NM_000051.4(ATM):c.5674+19A>G
NM_000051.4(ATM):c.5674+20A>G
NM_000051.4(ATM):c.5674+7T>A rs1591718715
NM_000051.4(ATM):c.5674+7T>C
NM_000051.4(ATM):c.5674+8A>C rs1033110152
NM_000051.4(ATM):c.5674+8A>G rs1033110152
NM_000051.4(ATM):c.5674+9T>C
NM_000051.4(ATM):c.5674+9_5674+12del
NM_000051.4(ATM):c.5675-10T>C
NM_000051.4(ATM):c.5675-11T>C
NM_000051.4(ATM):c.5675-14T>C
NM_000051.4(ATM):c.5675-15A>G rs1565485867
NM_000051.4(ATM):c.5675-16T>A
NM_000051.4(ATM):c.5675-17A>C
NM_000051.4(ATM):c.5675-17A>G
NM_000051.4(ATM):c.5675-18G>C
NM_000051.4(ATM):c.5675-19A>G
NM_000051.4(ATM):c.5675-20G>A
NM_000051.4(ATM):c.5675-5G>C rs1591731701
NM_000051.4(ATM):c.567A>G (p.Arg189=) rs1555066398
NM_000051.4(ATM):c.5682G>A (p.Glu1894=) rs2135975851
NM_000051.4(ATM):c.5685C>T (p.His1895=) rs889445709
NM_000051.4(ATM):c.5691C>T (p.Phe1897=) rs1555109057
NM_000051.4(ATM):c.5697C>T (p.Cys1899=) rs753839301
NM_000051.4(ATM):c.5701T>C (p.Leu1901=) rs2135976467
NM_000051.4(ATM):c.5709A>G (p.Lys1903=) rs2135976714
NM_000051.4(ATM):c.5712A>G (p.Lys1904=) rs864622127
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5724A>C (p.Thr1908=)
NM_000051.4(ATM):c.5724A>G (p.Thr1908=) rs2135977142
NM_000051.4(ATM):c.5736T>C (p.Val1912=) rs1060504302
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
NM_000051.4(ATM):c.5752A>C (p.Arg1918=)
NM_000051.4(ATM):c.5757A>G (p.Gln1919=) rs1555109182
NM_000051.4(ATM):c.5762+10T>C rs1276744102
NM_000051.4(ATM):c.5762+11G>A
NM_000051.4(ATM):c.5762+11G>C rs2135978459
NM_000051.4(ATM):c.5762+12A>C rs2135978517
NM_000051.4(ATM):c.5762+12A>G
NM_000051.4(ATM):c.5762+13G>A
NM_000051.4(ATM):c.5762+14T>G
NM_000051.4(ATM):c.5762+16T>C
NM_000051.4(ATM):c.5762+18G>A
NM_000051.4(ATM):c.5762+19C>G
NM_000051.4(ATM):c.5762+20T>C rs2135978759
NM_000051.4(ATM):c.5762+21del
NM_000051.4(ATM):c.5762+7_5762+11del
NM_000051.4(ATM):c.5762+9A>G rs1565486371
NM_000051.4(ATM):c.5763-1048_5763-1036del
NM_000051.4(ATM):c.5763-1056G>C
NM_000051.4(ATM):c.5763-1056G>T
NM_000051.4(ATM):c.5763-11T>C rs1057520675
NM_000051.4(ATM):c.5763-12A>G rs1057523388
NM_000051.4(ATM):c.5763-13C>T rs1057522554
NM_000051.4(ATM):c.5763-14T>A
NM_000051.4(ATM):c.5763-14_5763-13del rs1064794707
NM_000051.4(ATM):c.5763-15C>G
NM_000051.4(ATM):c.5763-17_5763-16del rs1064793040
NM_000051.4(ATM):c.5763-20T>G
NM_000051.4(ATM):c.5763-20_5763-18del rs777468149
NM_000051.4(ATM):c.5763-3T>C
NM_000051.4(ATM):c.5763-5T>C rs1555110219
NM_000051.4(ATM):c.5763-7T>C rs1555110216
NM_000051.4(ATM):c.5763-7T>G
NM_000051.4(ATM):c.5763-8T>G rs2136010657
NM_000051.4(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.4(ATM):c.5766T>C (p.Pro1922=) rs2084022090
NM_000051.4(ATM):c.5769T>C (p.Ser1923=) rs1060504280
NM_000051.4(ATM):c.5772A>G (p.Ser1924=)
NM_000051.4(ATM):c.5784T>C (p.Phe1928=) rs1290871799
NM_000051.4(ATM):c.5787T>C (p.Asn1929=) rs1057520448
NM_000051.4(ATM):c.5790T>C (p.Asp1930=) rs1555110279
NM_000051.4(ATM):c.5800C>T (p.Leu1934=)
NM_000051.4(ATM):c.5805T>C (p.Asp1935=)
NM_000051.4(ATM):c.5815C>T (p.Leu1939=) rs2136014129
NM_000051.4(ATM):c.5820A>G (p.Glu1940=) rs2084028240
NM_000051.4(ATM):c.5829G>A (p.Lys1943=)
NM_000051.4(ATM):c.5832A>G (p.Val1944=)
NM_000051.4(ATM):c.5841T>C (p.Ser1947=) rs2084031312
NM_000051.4(ATM):c.5844T>C (p.Cys1948=) rs776150043
NM_000051.4(ATM):c.5856T>C (p.Phe1952=) rs864622297
NM_000051.4(ATM):c.5859A>G (p.Thr1953=) rs1555110429
NM_000051.4(ATM):c.585C>G (p.Thr195=) rs2135224869
NM_000051.4(ATM):c.585C>T (p.Thr195=)
NM_000051.4(ATM):c.5865A>G (p.Leu1955=) rs1555110432
NM_000051.4(ATM):c.5868C>G (p.Leu1956=) rs540054724
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=) rs2136017191
NM_000051.4(ATM):c.5874A>G (p.Ala1958=) rs1591746375
NM_000051.4(ATM):c.5889T>C (p.Asp1963=) rs1555110490
NM_000051.4(ATM):c.588A>G (p.Lys196=) rs2135224945
NM_000051.4(ATM):c.5895A>G (p.Lys1965=) rs1565490147
NM_000051.4(ATM):c.5910A>G (p.Gln1970=)
NM_000051.4(ATM):c.5916A>G (p.Lys1972=) rs2136019609
NM_000051.4(ATM):c.5918+12T>C rs2084042843
NM_000051.4(ATM):c.5918+13A>C
NM_000051.4(ATM):c.5918+14G>T rs2136020496
NM_000051.4(ATM):c.5918+16A>C
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.5918+17T>G rs2136020727
NM_000051.4(ATM):c.5918+18T>G
NM_000051.4(ATM):c.5918+7G>C rs1423323603
NM_000051.4(ATM):c.5918+7del rs2136020073
NM_000051.4(ATM):c.5918+8A>C rs1401825950
NM_000051.4(ATM):c.5918+8A>G
NM_000051.4(ATM):c.5918+8A>T
NM_000051.4(ATM):c.5919-11G>A rs1555111746
NM_000051.4(ATM):c.5919-11G>C
NM_000051.4(ATM):c.5919-13T>C rs1555111740
NM_000051.4(ATM):c.5919-17G>A
NM_000051.4(ATM):c.5919-18_5919-15dup rs2136057696
NM_000051.4(ATM):c.5919-20G>A
NM_000051.4(ATM):c.5919-20G>T
NM_000051.4(ATM):c.5919-49C>T rs2084236076
NM_000051.4(ATM):c.5919-7C>T
NM_000051.4(ATM):c.5919-7_5919-6insCTGT rs1239985928
NM_000051.4(ATM):c.591A>G (p.Gly197=) rs587780630
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
NM_000051.4(ATM):c.5943C>T (p.Ser1981=) rs769252226
NM_000051.4(ATM):c.5946G>A (p.Gln1982=) rs1591758349
NM_000051.4(ATM):c.594C>T (p.Cys198=) rs1591500282
NM_000051.4(ATM):c.5952A>G (p.Thr1984=)
NM_000051.4(ATM):c.5955T>C (p.Thr1985=) rs1555111801
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val) rs876660935
NM_000051.4(ATM):c.5958T>A (p.Ile1986=) rs2136060867
NM_000051.4(ATM):c.5961T>C (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5967G>A (p.Leu1989=) rs1555111833
NM_000051.4(ATM):c.5979T>C (p.Ser1993=) rs1591758734
NM_000051.4(ATM):c.597T>C (p.Cys199=) rs1565369633
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
NM_000051.4(ATM):c.5985A>G (p.Glu1995=) rs2084252730
NM_000051.4(ATM):c.5991T>G (p.Thr1997=)
NM_000051.4(ATM):c.6003A>G (p.Leu2001=) rs1057523413
NM_000051.4(ATM):c.6006+10A>G rs2136063971
NM_000051.4(ATM):c.6006+11G>C rs1466545116
NM_000051.4(ATM):c.6006+14G>A
NM_000051.4(ATM):c.6006+17C>T
NM_000051.4(ATM):c.6006+19A>G
NM_000051.4(ATM):c.6006+20T>G
NM_000051.4(ATM):c.6006+7A>G rs1060504289
NM_000051.4(ATM):c.6007-10A>T rs373395916
NM_000051.4(ATM):c.6007-11C>T rs764191468
NM_000051.4(ATM):c.6007-13T>G
NM_000051.4(ATM):c.6007-17T>C rs2136116248
NM_000051.4(ATM):c.6007-19G>A rs1304200112
NM_000051.4(ATM):c.6007-19G>T
NM_000051.4(ATM):c.6007-4T>G rs1591776406
NM_000051.4(ATM):c.6007-5T>C rs863224294
NM_000051.4(ATM):c.6007-6T>G rs2136116961
NM_000051.4(ATM):c.6007-7T>C
NM_000051.4(ATM):c.6007-8G>C rs1057524058
NM_000051.4(ATM):c.6007-9T>C rs1591776333
NM_000051.4(ATM):c.6009T>C (p.Asp2003=) rs878853526
NM_000051.4(ATM):c.600T>G (p.Ser200=) rs2135225298
NM_000051.4(ATM):c.6015C>G (p.Leu2005=)
NM_000051.4(ATM):c.6016T>C (p.Leu2006=) rs1555113531
NM_000051.4(ATM):c.6018A>G (p.Leu2006=) rs876659301
NM_000051.4(ATM):c.6027C>T (p.Tyr2009=)
NM_000051.4(ATM):c.6048T>C (p.Asp2016=) rs2136119590
NM_000051.4(ATM):c.6052T>C (p.Leu2018=) rs2136119802
NM_000051.4(ATM):c.6054G>A (p.Leu2018=)
NM_000051.4(ATM):c.6060C>G (p.Gly2020=) rs2136120253
NM_000051.4(ATM):c.6063T>C (p.Cys2021=)
NM_000051.4(ATM):c.6066T>A (p.Gly2022=)
NM_000051.4(ATM):c.6072G>A (p.Gly2024=) rs1591777129
NM_000051.4(ATM):c.6075G>A (p.Lys2025=)
NM_000051.4(ATM):c.6087C>T (p.Pro2029=) rs1060504316
NM_000051.4(ATM):c.6090T>C (p.Ile2030=)
NM_000051.4(ATM):c.6093T>G (p.Thr2031=)
NM_000051.4(ATM):c.6095+10A>G
NM_000051.4(ATM):c.6095+11T>G rs2136122672
NM_000051.4(ATM):c.6095+13T>C rs2136122778
NM_000051.4(ATM):c.6095+17T>C rs2136122949
NM_000051.4(ATM):c.6095+18A>T
NM_000051.4(ATM):c.6095+19A>G
NM_000051.4(ATM):c.6095+20A>C rs2136123062
NM_000051.4(ATM):c.6095+5del rs1555113628
NM_000051.4(ATM):c.6095+6T>A rs1057522992
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.6095+7T>A
NM_000051.4(ATM):c.6095+7T>C
NM_000051.4(ATM):c.6095+7T>G rs2136122461
NM_000051.4(ATM):c.6095+9C>A
NM_000051.4(ATM):c.6095+9del rs2136122631
NM_000051.4(ATM):c.6096-10T>C rs2136126453
NM_000051.4(ATM):c.6096-12C>T
NM_000051.4(ATM):c.6096-15A>C
NM_000051.4(ATM):c.6096-15A>T
NM_000051.4(ATM):c.6096-16C>A
NM_000051.4(ATM):c.6096-16C>T
NM_000051.4(ATM):c.6096-18C>G
NM_000051.4(ATM):c.6096-18C>T
NM_000051.4(ATM):c.6096-20T>C rs746766702
NM_000051.4(ATM):c.6096-20T>G rs746766702
NM_000051.4(ATM):c.6096-5T>C
NM_000051.4(ATM):c.6096-7C>G rs1173338615
NM_000051.4(ATM):c.6096-7C>T
NM_000051.4(ATM):c.6096A>G (p.Arg2032=) rs1591778359
NM_000051.4(ATM):c.60T>C (p.Ala20=)
NM_000051.4(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000051.4(ATM):c.6105A>T (p.Thr2035=) rs1555113708
NM_000051.4(ATM):c.6117A>G (p.Glu2039=) rs2136127840
NM_000051.4(ATM):c.6120A>G (p.Ala2040=) rs1565499622
NM_000051.4(ATM):c.6129C>T (p.Gly2043=)
NM_000051.4(ATM):c.612A>G (p.Gly204=) rs878853527
NM_000051.4(ATM):c.6135C>T (p.Ala2045=) rs1555113771
NM_000051.4(ATM):c.6138A>G (p.Leu2046=) rs1591778887
NM_000051.4(ATM):c.6141A>G (p.Val2047=) rs978540099
NM_000051.4(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.4(ATM):c.6150C>T (p.Asp2050=) rs1057520805
NM_000051.4(ATM):c.6153C>G (p.Leu2051=) rs876658452
NM_000051.4(ATM):c.615A>G (p.Leu205=) rs1555066455
NM_000051.4(ATM):c.6162A>G (p.Ala2054=)
NM_000051.4(ATM):c.6165C>A (p.Ile2055=) rs779848229
NM_000051.4(ATM):c.6165C>T (p.Ile2055=)
NM_000051.4(ATM):c.6168C>G (p.Pro2056=)
NM_000051.4(ATM):c.6168C>T (p.Pro2056=) rs1057520449
NM_000051.4(ATM):c.6171A>G (p.Ser2057=)
NM_000051.4(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.4(ATM):c.6180C>A (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6180C>T (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6195T>C (p.Ile2065=) rs756309395
NM_000051.4(ATM):c.6198+12C>A
NM_000051.4(ATM):c.6198+12C>T
NM_000051.4(ATM):c.6198+13C>G
NM_000051.4(ATM):c.6198+17A>C
NM_000051.4(ATM):c.6198+17A>G
NM_000051.4(ATM):c.6198+18T>C
NM_000051.4(ATM):c.6198+20T>C
NM_000051.4(ATM):c.6198+4C>T rs749370650
NM_000051.4(ATM):c.6198+8T>G rs2136133343
NM_000051.4(ATM):c.6198+9_6198+12del rs1451367847
NM_000051.4(ATM):c.6199-10T>G rs2084770572
NM_000051.4(ATM):c.6199-4T>G rs2136162102
NM_000051.4(ATM):c.6199-5T>A rs1555114533
NM_000051.4(ATM):c.6199-6G>C rs1555114529
NM_000051.4(ATM):c.6199-6G>T rs1555114529
NM_000051.4(ATM):c.6199-8C>T rs1254806505
NM_000051.4(ATM):c.6199-9C>A rs1060501611
NM_000051.4(ATM):c.6199-9C>G
NM_000051.4(ATM):c.6201C>T (p.Ala2067=) rs2136162415
NM_000051.4(ATM):c.6202T>C (p.Leu2068=) rs2136162514
NM_000051.4(ATM):c.6211T>C (p.Leu2071=) rs928129862
NM_000051.4(ATM):c.6216A>T (p.Gly2072=) rs2136163345
NM_000051.4(ATM):c.621C>T (p.Ser207=)
NM_000051.4(ATM):c.6225T>C (p.His2075=)
NM_000051.4(ATM):c.6240T>C (p.Tyr2080=) rs1383950977
NM_000051.4(ATM):c.6252G>A (p.Leu2084=) rs876658700
NM_000051.4(ATM):c.6258T>C (p.Tyr2086=) rs1565502999
NM_000051.4(ATM):c.6264T>C (p.Asn2088=) rs747372417
NM_000051.4(ATM):c.6276T>C (p.Cys2092=) rs2136166722
NM_000051.4(ATM):c.6279T>C (p.Pro2093=) rs141370828
NM_000051.4(ATM):c.627T>C (p.Phe209=)
NM_000051.4(ATM):c.6282A>G (p.Glu2094=)
NM_000051.4(ATM):c.6283C>T (p.Leu2095=) rs2084785926
NM_000051.4(ATM):c.6285A>G (p.Leu2095=) rs1555114732
NM_000051.4(ATM):c.628T>C (p.Leu210=) rs1555066477
NM_000051.4(ATM):c.6300C>T (p.Tyr2100=)
NM_000051.4(ATM):c.6303A>G (p.Gln2101=) rs876659325
NM_000051.4(ATM):c.6306A>C (p.Ala2102=) rs2136168477
NM_000051.4(ATM):c.6309A>C (p.Ala2103=)
NM_000051.4(ATM):c.6309A>G (p.Ala2103=) rs2084789463
NM_000051.4(ATM):c.630G>A (p.Leu210=) rs1565369739
NM_000051.4(ATM):c.6324G>A (p.Gln2108=)
NM_000051.4(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.4(ATM):c.6339T>C (p.Thr2113=)
NM_000051.4(ATM):c.633C>T (p.Asp211=) rs1060501634
NM_000051.4(ATM):c.6347+10T>A rs2136171374
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+9T>G
NM_000051.4(ATM):c.6348-12C>T rs1057521664
NM_000051.4(ATM):c.6348-14_6348-10del
NM_000051.4(ATM):c.6348-17T>G rs2136217719
NM_000051.4(ATM):c.6348-18C>A
NM_000051.4(ATM):c.6348-18C>G rs1175043012
NM_000051.4(ATM):c.6348-18C>T
NM_000051.4(ATM):c.6348-19T>A
NM_000051.4(ATM):c.6348-19T>C
NM_000051.4(ATM):c.6348-4A>G rs1591099510
NM_000051.4(ATM):c.6348-5C>T rs1388651064
NM_000051.4(ATM):c.6348-7C>G rs2085074288
NM_000051.4(ATM):c.6348-7C>T
NM_000051.4(ATM):c.6348-8T>A
NM_000051.4(ATM):c.6348-9A>G rs1591099349
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6354A>G (p.Glu2118=) rs2136218685
NM_000051.4(ATM):c.6357A>G (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6357A>T (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.636T>C (p.Phe212=) rs1555066499
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=) rs904589402
NM_000051.4(ATM):c.6375T>C (p.His2125=) rs1591099942
NM_000051.4(ATM):c.6378A>G (p.Glu2126=) rs1060504297
NM_000051.4(ATM):c.6384G>A (p.Leu2128=) rs1060501629
NM_000051.4(ATM):c.6387C>T (p.Tyr2129=) rs2085081161
NM_000051.4(ATM):c.6390T>C (p.Asn2130=) rs1555116433
NM_000051.4(ATM):c.6393T>C (p.Ala2131=) rs1591100144
NM_000051.4(ATM):c.6399A>G (p.Gln2133=) rs750614487
NM_000051.4(ATM):c.639T>C (p.Phe213=) rs2135226818
NM_000051.4(ATM):c.63A>G (p.Thr21=) rs199853729
NM_000051.4(ATM):c.6403C>T (p.Leu2135=)
NM_000051.4(ATM):c.6405A>G (p.Leu2135=) rs2085084061
NM_000051.4(ATM):c.6405A>T (p.Leu2135=)
NM_000051.4(ATM):c.6412A>C (p.Arg2138=) rs752069869
NM_000051.4(ATM):c.6414A>G (p.Arg2138=) rs1591100396
NM_000051.4(ATM):c.6417A>G (p.Glu2139=) rs2136221364
NM_000051.4(ATM):c.6423T>A (p.Ser2141=)
NM_000051.4(ATM):c.6426A>G (p.Thr2142=) rs1591100486
NM_000051.4(ATM):c.6429T>C (p.Phe2143=) rs2136221811
NM_000051.4(ATM):c.642C>T (p.Ser214=) rs1555066521
NM_000051.4(ATM):c.6432T>C (p.Tyr2144=)
NM_000051.4(ATM):c.6441C>G (p.Leu2147=)
NM_000051.4(ATM):c.6444A>G (p.Lys2148=) rs2136222477
NM_000051.4(ATM):c.6450C>G (p.Ala2150=)
NM_000051.4(ATM):c.6450C>T (p.Ala2150=) rs2136222693
NM_000051.4(ATM):c.6452+11A>C
NM_000051.4(ATM):c.6452+11_6452+12del rs1187485566
NM_000051.4(ATM):c.6452+16A>T
NM_000051.4(ATM):c.6452+17A>C rs371044809
NM_000051.4(ATM):c.6452+17A>T rs371044809
NM_000051.4(ATM):c.6452+17_6452+18del
NM_000051.4(ATM):c.6452+19dup
NM_000051.4(ATM):c.6452+21del rs2136223606
NM_000051.4(ATM):c.6452+7T>C rs1555116551
NM_000051.4(ATM):c.6452+8G>A rs2136223026
NM_000051.4(ATM):c.6452+9A>C rs771531015
NM_000051.4(ATM):c.6452+9A>G rs771531015
NM_000051.4(ATM):c.6453-13T>C rs1555117056
NM_000051.4(ATM):c.6453-13T>G
NM_000051.4(ATM):c.6453-14T>A rs1380071831
NM_000051.4(ATM):c.6453-14T>C
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000051.4(ATM):c.6453-5A>G rs755177899
NM_000051.4(ATM):c.6453A>G (p.Arg2151=)
NM_000051.4(ATM):c.6459A>G (p.Lys2153=)
NM_000051.4(ATM):c.645G>A (p.Lys215=) rs2079708544
NM_000051.4(ATM):c.6462A>G (p.Glu2154=) rs756453090
NM_000051.4(ATM):c.6480G>A (p.Lys2160=) rs2136239159
NM_000051.4(ATM):c.648T>A (p.Ala216=) rs770270310
NM_000051.4(ATM):c.648T>C (p.Ala216=) rs770270310
NM_000051.4(ATM):c.648T>G (p.Ala216=) rs770270310
NM_000051.4(ATM):c.6498G>A (p.Val2166=) rs746514937
NM_000051.4(ATM):c.6501T>C (p.Tyr2167=) rs1204851027
NM_000051.4(ATM):c.6507C>T (p.Leu2169=)
NM_000051.4(ATM):c.6510T>C (p.Tyr2170=)
NM_000051.4(ATM):c.6516A>C (p.Thr2172=) rs576254168
NM_000051.4(ATM):c.6519T>C (p.Leu2173=)
NM_000051.4(ATM):c.6519T>G (p.Leu2173=) rs2136240892
NM_000051.4(ATM):c.6523A>C (p.Arg2175=) rs2085199556
NM_000051.4(ATM):c.6525G>A (p.Arg2175=) rs1555117190
NM_000051.4(ATM):c.6528G>A (p.Leu2176=) rs2136241451
NM_000051.4(ATM):c.6531G>A (p.Gln2177=) rs2136241619
NM_000051.4(ATM):c.6534C>T (p.Ala2178=) rs1555117210
NM_000051.4(ATM):c.6543G>C (p.Glu2181Asp) rs138828590
NM_000051.4(ATM):c.6544C>T (p.Leu2182=)
NM_000051.4(ATM):c.6546G>A (p.Leu2182=) rs756551824
NM_000051.4(ATM):c.654G>A (p.Gln218=)
NM_000051.4(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.4(ATM):c.6555T>C (p.Ile2185=) rs1591107794
NM_000051.4(ATM):c.6561G>A (p.Glu2187=)
NM_000051.4(ATM):c.6570A>G (p.Ser2190=) rs1591107853
NM_000051.4(ATM):c.6572+10T>G rs2136243985
NM_000051.4(ATM):c.6572+12G>A rs3218677
NM_000051.4(ATM):c.6572+12G>C
NM_000051.4(ATM):c.6572+12del rs1555117290
NM_000051.4(ATM):c.6572+15T>C
NM_000051.4(ATM):c.6572+17A>C rs1555117296
NM_000051.4(ATM):c.6572+17A>G
NM_000051.4(ATM):c.6572+18C>G
NM_000051.4(ATM):c.6572+18C>T rs2085210231
NM_000051.4(ATM):c.6572+20_6572+21del rs1064793041
NM_000051.4(ATM):c.6572+7A>C rs2136243916
NM_000051.4(ATM):c.6572+7A>G
NM_000051.4(ATM):c.6572+9T>A rs2136243962
NM_000051.4(ATM):c.6573-11G>A rs375599653
NM_000051.4(ATM):c.6573-12C>G rs1057521666
NM_000051.4(ATM):c.6573-12C>T rs1057521666
NM_000051.4(ATM):c.6573-13T>A
NM_000051.4(ATM):c.6573-14G>A
NM_000051.4(ATM):c.6573-16_6573-15del rs1064794351
NM_000051.4(ATM):c.6573-17_6573-16insCCCT
NM_000051.4(ATM):c.6573-18_6573-17insGAT
NM_000051.4(ATM):c.6573-4T>C
NM_000051.4(ATM):c.6573-5T>C
NM_000051.4(ATM):c.6573-7C>T
NM_000051.4(ATM):c.6573-8G>A rs1555118989
NM_000051.4(ATM):c.6573-8G>T rs1555118989
NM_000051.4(ATM):c.6576A>G (p.Ser2192=) rs2136306809
NM_000051.4(ATM):c.6579C>T (p.Val2193=)
NM_000051.4(ATM):c.6582A>G (p.Thr2194=)
NM_000051.4(ATM):c.6585T>C (p.His2195=) rs786203401
NM_000051.4(ATM):c.6586A>C (p.Arg2196=) rs1555119011
NM_000051.4(ATM):c.6588A>G (p.Arg2196=) rs2136307484
NM_000051.4(ATM):c.6591A>G (p.Gln2197=) rs863224296
NM_000051.4(ATM):c.6600A>G (p.Glu2200=) rs2136308135
NM_000051.4(ATM):c.6603A>G (p.Val2201=) rs863224297
NM_000051.4(ATM):c.6606T>C (p.Tyr2202=) rs1367617850
NM_000051.4(ATM):c.660G>C (p.Ala220=)
NM_000051.4(ATM):c.660G>T (p.Ala220=) rs763669136
NM_000051.4(ATM):c.6612G>A (p.Lys2204=) rs876660650
NM_000051.4(ATM):c.662+13_662+14del rs1064795370
NM_000051.4(ATM):c.662+6C>G rs1565369978
NM_000051.4(ATM):c.662+7T>C rs2135227769
NM_000051.4(ATM):c.662+8_662+12del rs864622475
NM_000051.4(ATM):c.662+8_662+9dup rs1591500816
NM_000051.4(ATM):c.6627C>G (p.Ser2209=) rs2085556098
NM_000051.4(ATM):c.663-10T>C rs2135236361
NM_000051.4(ATM):c.663-12G>C rs2135236291
NM_000051.4(ATM):c.663-15T>C
NM_000051.4(ATM):c.663-16G>A rs2079751648
NM_000051.4(ATM):c.663-16G>C
NM_000051.4(ATM):c.663-18T>C rs2135236192
NM_000051.4(ATM):c.663-20G>A
NM_000051.4(ATM):c.663-20G>C rs1555066898
NM_000051.4(ATM):c.663-5C>A rs1591503207
NM_000051.4(ATM):c.663-6T>A rs1555066907
NM_000051.4(ATM):c.663-7T>C rs2135236482
NM_000051.4(ATM):c.663-8C>G
NM_000051.4(ATM):c.6636C>A (p.Leu2212=) rs876659563
NM_000051.4(ATM):c.6636C>G (p.Leu2212=)
NM_000051.4(ATM):c.6663G>A (p.Glu2221=)
NM_000051.4(ATM):c.6666T>C (p.Pro2222=) rs1591128954
NM_000051.4(ATM):c.6669C>T (p.Ile2223=)
NM_000051.4(ATM):c.666A>G (p.Gln222=)
NM_000051.4(ATM):c.6676C>T (p.Leu2226=) rs745709682
NM_000051.4(ATM):c.6681C>A (p.Arg2227=) rs775850434
NM_000051.4(ATM):c.6693G>A (p.Leu2231=) rs2136313009
NM_000051.4(ATM):c.6699C>T (p.Ile2233=) rs1555119149
NM_000051.4(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.6702G>A (p.Leu2234=)
NM_000051.4(ATM):c.6720C>T (p.Asp2240=)
NM_000051.4(ATM):c.6723C>T (p.Asn2241=) rs750763671
NM_000051.4(ATM):c.6726A>G (p.Ser2242=) rs878853534
NM_000051.4(ATM):c.6729A>G (p.Gln2243=) rs763431129
NM_000051.4(ATM):c.672G>A (p.Lys224=)
NM_000051.4(ATM):c.6735A>G (p.Glu2245=) rs2136315259
NM_000051.4(ATM):c.6738T>C (p.Cys2246=) rs2136315409
NM_000051.4(ATM):c.6753C>T (p.Leu2251=) rs1057521515
NM_000051.4(ATM):c.6756C>G (p.Thr2252=)
NM_000051.4(ATM):c.675C>T (p.Ser225=) rs1555066940
NM_000051.4(ATM):c.6762C>T (p.His2254=) rs563933875
NM_000051.4(ATM):c.6765T>C (p.Leu2255=) rs587780637
NM_000051.4(ATM):c.6768A>G (p.Val2256=)
NM_000051.4(ATM):c.6774C>G (p.Leu2258=)
NM_000051.4(ATM):c.6777T>C (p.Ser2259=) rs1057522874
NM_000051.4(ATM):c.678T>C (p.Ser226=) rs2135237178
NM_000051.4(ATM):c.678T>G (p.Ser226=) rs2135237178
NM_000051.4(ATM):c.6792T>A (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.6792T>C (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.67C>A (p.Arg23=) rs746235533
NM_000051.4(ATM):c.6801C>T (p.Asn2267=) rs1591130210
NM_000051.4(ATM):c.6807+11T>C
NM_000051.4(ATM):c.6807+15A>G
NM_000051.4(ATM):c.6807+17A>G
NM_000051.4(ATM):c.6807+20_6807+21del rs1555119392
NM_000051.4(ATM):c.6807+8C>A rs1565519254
NM_000051.4(ATM):c.6807+8C>T rs1565519254
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6808-10T>C rs2136330431
NM_000051.4(ATM):c.6808-14C>G
NM_000051.4(ATM):c.6808-14C>T rs932081789
NM_000051.4(ATM):c.6808-17T>A
NM_000051.4(ATM):c.6808-18A>G
NM_000051.4(ATM):c.6808-18A>T rs1166582977
NM_000051.4(ATM):c.6808-18_6808-10del
NM_000051.4(ATM):c.6808-18_6808-17del rs2136330085
NM_000051.4(ATM):c.6808-20A>T
NM_000051.4(ATM):c.6808-6_6808-2del rs2085643760
NM_000051.4(ATM):c.6808-7A>G rs2085644108
NM_000051.4(ATM):c.6808-8C>G
NM_000051.4(ATM):c.6808-9T>C
NM_000051.4(ATM):c.6810C>T (p.Leu2270=) rs1060504305
NM_000051.4(ATM):c.6813T>C (p.Pro2271=) rs1555119714
NM_000051.4(ATM):c.6816A>G (p.Glu2272=) rs1555119726
NM_000051.4(ATM):c.6822A>G (p.Ala2274=)
NM_000051.4(ATM):c.6831A>G (p.Gln2277=) rs1339794219
NM_000051.4(ATM):c.6840G>A (p.Gln2280=) rs2136332740
NM_000051.4(ATM):c.6843C>T (p.Tyr2281=)
NM_000051.4(ATM):c.6849A>C (p.Ser2283=)
NM_000051.4(ATM):c.684T>C (p.Gly228=) rs1591503368
NM_000051.4(ATM):c.684T>G (p.Gly228=)
NM_000051.4(ATM):c.6852T>C (p.Val2284=)
NM_000051.4(ATM):c.6861A>C (p.Gly2287=) rs2136333918
NM_000051.4(ATM):c.6864C>G (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6864C>T (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6870G>A (p.Glu2290=) rs1555119845
NM_000051.4(ATM):c.6876G>A (p.Gln2292=)
NM_000051.4(ATM):c.687A>C (p.Leu229=) rs3218706
NM_000051.4(ATM):c.687A>G (p.Leu229=) rs3218706
NM_000051.4(ATM):c.6882A>G (p.Glu2294=) rs1555119866
NM_000051.4(ATM):c.6885A>G (p.Glu2295=) rs748221367
NM_000051.4(ATM):c.6888A>C (p.Ala2296=)
NM_000051.4(ATM):c.6888A>G (p.Ala2296=)
NM_000051.4(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.4(ATM):c.6894A>G (p.Val2298=) rs2136335688
NM_000051.4(ATM):c.6903A>G (p.Ala2301=)
NM_000051.4(ATM):c.6906A>G (p.Lys2302=)
NM_000051.4(ATM):c.6909G>A (p.Lys2303=)
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)
NM_000051.4(ATM):c.6915G>A (p.Gln2305=)
NM_000051.4(ATM):c.6918T>C (p.Ser2306=) rs1555119959
NM_000051.4(ATM):c.6921T>C (p.Leu2307=)
NM_000051.4(ATM):c.6921T>G (p.Leu2307=) rs1555119966
NM_000051.4(ATM):c.6924C>T (p.Ala2308=) rs759878732
NM_000051.4(ATM):c.6927G>A (p.Leu2309=) rs876660429
NM_000051.4(ATM):c.6927G>C (p.Leu2309=)
NM_000051.4(ATM):c.6930T>C (p.Ser2310=) rs876660710
NM_000051.4(ATM):c.693T>C (p.His231=) rs1555066993
NM_000051.4(ATM):c.6951G>A (p.Lys2317=) rs1591134349
NM_000051.4(ATM):c.6954G>A (p.Lys2318=) rs1555120044
NM_000051.4(ATM):c.6955T>C (p.Leu2319=)
NM_000051.4(ATM):c.6963C>T (p.Ala2321=) rs1555120057
NM_000051.4(ATM):c.6969T>C (p.Cys2323=)
NM_000051.4(ATM):c.696C>T (p.Ile232=) rs1591503507
NM_000051.4(ATM):c.6975+13T>G
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.6975+14A>G
NM_000051.4(ATM):c.6975+14del rs2136341824
NM_000051.4(ATM):c.6975+14dup rs1555120120
NM_000051.4(ATM):c.6975+18G>C rs2136342020
NM_000051.4(ATM):c.6975+18G>T
NM_000051.4(ATM):c.6975+20T>A
NM_000051.4(ATM):c.6975+20T>C rs781322757
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975+7T>C
NM_000051.4(ATM):c.6975+7T>G rs754834282
NM_000051.4(ATM):c.6975+8T>C rs2136341429
NM_000051.4(ATM):c.6975+9T>G
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-10T>C
NM_000051.4(ATM):c.6976-11T>A rs1565523441
NM_000051.4(ATM):c.6976-11T>C rs1565523441
NM_000051.4(ATM):c.6976-16T>C
NM_000051.4(ATM):c.6976-19T>C rs1026199027
NM_000051.4(ATM):c.6976-4A>G rs2136372366
NM_000051.4(ATM):c.6976-4A>T
NM_000051.4(ATM):c.6976-5T>A
NM_000051.4(ATM):c.6976-5T>C rs1555120913
NM_000051.4(ATM):c.6976-6A>G rs2136372183
NM_000051.4(ATM):c.6976-6A>T rs2136372183
NM_000051.4(ATM):c.6976-7T>A rs2085807343
NM_000051.4(ATM):c.6976-8T>A rs2136372089
NM_000051.4(ATM):c.6976-9C>A
NM_000051.4(ATM):c.6976-9del rs2136372040
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.6990A>G (p.Leu2330=) rs2136373497
NM_000051.4(ATM):c.6993A>G (p.Lys2331=)
NM_000051.4(ATM):c.6996T>C (p.Leu2332=)
NM_000051.4(ATM):c.6996T>G (p.Leu2332=) rs2136373865
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.6999A>G (p.Thr2333=) rs759267807
NM_000051.4(ATM):c.699A>G (p.Leu233=) rs1555067006
NM_000051.4(ATM):c.7005A>G (p.Thr2335=) rs1555120978
NM_000051.4(ATM):c.7008A>G (p.Glu2336=) rs2136374637
NM_000051.4(ATM):c.7011T>C (p.Cys2337=) rs878853536
NM_000051.4(ATM):c.7012C>T (p.Leu2338=) rs1555120990
NM_000051.4(ATM):c.7015A>C (p.Arg2339=) rs752531255
NM_000051.4(ATM):c.7023T>C (p.Cys2341=) rs878853537
NM_000051.4(ATM):c.7029C>T (p.Asn2343=) rs1251099495
NM_000051.4(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.4(ATM):c.7044G>T (p.Thr2348=) rs140104789
NM_000051.4(ATM):c.7047C>T (p.Cys2349=)
NM_000051.4(ATM):c.7048T>C (p.Leu2350=) rs2136377415
NM_000051.4(ATM):c.7050A>G (p.Leu2350=) rs1555121076
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)
NM_000051.4(ATM):c.705T>C (p.Ala235=) rs756175724
NM_000051.4(ATM):c.705T>G (p.Ala235=) rs756175724
NM_000051.4(ATM):c.7062G>C (p.Ala2354=) rs143489373
NM_000051.4(ATM):c.7065C>T (p.Val2355=) rs2136378354
NM_000051.4(ATM):c.7077C>T (p.Thr2359=) rs1555121132
NM_000051.4(ATM):c.7080T>C (p.Tyr2360=) rs1555121147
NM_000051.4(ATM):c.7081C>T (p.Leu2361=) rs1412288141
NM_000051.4(ATM):c.7089+12G>T
NM_000051.4(ATM):c.7089+13G>C
NM_000051.4(ATM):c.7089+15G>A
NM_000051.4(ATM):c.7089+16C>A
NM_000051.4(ATM):c.7089+19C>A
NM_000051.4(ATM):c.7089+7T>G
NM_000051.4(ATM):c.7090-12G>A
NM_000051.4(ATM):c.7090-12G>C
NM_000051.4(ATM):c.7090-14G>A rs1486032156
NM_000051.4(ATM):c.7090-14G>T rs1486032156
NM_000051.4(ATM):c.7090-16T>C
NM_000051.4(ATM):c.7090-17G>A
NM_000051.4(ATM):c.7090-17G>C rs1555121895
NM_000051.4(ATM):c.7090-17G>T rs1555121895
NM_000051.4(ATM):c.7090-18G>T
NM_000051.4(ATM):c.7090-19T>G rs2136408437
NM_000051.4(ATM):c.7090-6T>C rs2085972331
NM_000051.4(ATM):c.7090-6_7090-5del rs2136409409
NM_000051.4(ATM):c.7090-9T>C rs2136409178
NM_000051.4(ATM):c.7092A>G (p.Ala2364=) rs1591150359
NM_000051.4(ATM):c.7101T>C (p.Val2367=)
NM_000051.4(ATM):c.7107A>G (p.Gly2369=) rs1057523056
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=) rs760534895
NM_000051.4(ATM):c.7119A>G (p.Gly2373=)
NM_000051.4(ATM):c.711T>C (p.Thr237=) rs1294159555
NM_000051.4(ATM):c.7125T>C (p.Ser2375=) rs878853539
NM_000051.4(ATM):c.7128T>C (p.Ser2376=) rs2136412428
NM_000051.4(ATM):c.7137A>G (p.Leu2379=)
NM_000051.4(ATM):c.7138A>C (p.Arg2380=)
NM_000051.4(ATM):c.7140A>G (p.Arg2380=) rs750569023
NM_000051.4(ATM):c.7146A>G (p.Gly2382=)
NM_000051.4(ATM):c.7155G>A (p.Lys2385=) rs878853540
NM_000051.4(ATM):c.7158A>G (p.Ala2386=) rs2136414393
NM_000051.4(ATM):c.7164C>A (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7164C>T (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7167A>G (p.Ser2389=)
NM_000051.4(ATM):c.7179T>C (p.Phe2393=) rs1057520430
NM_000051.4(ATM):c.7182A>C (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>G (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>T (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)
NM_000051.4(ATM):c.7198A>C (p.Arg2400=) rs777423778
NM_000051.4(ATM):c.72+12C>T
NM_000051.4(ATM):c.72+12_72+15del rs2135007520
NM_000051.4(ATM):c.72+15A>C
NM_000051.4(ATM):c.72+16A>C rs1565344289
NM_000051.4(ATM):c.72+17A>G rs2135007789
NM_000051.4(ATM):c.72+19T>A rs776457787
NM_000051.4(ATM):c.72+19T>C
NM_000051.4(ATM):c.72+20C>A rs1555053997
NM_000051.4(ATM):c.72+20C>G rs1555053997
NM_000051.4(ATM):c.72+20C>T rs1555053997
NM_000051.4(ATM):c.72+7A>G
NM_000051.4(ATM):c.72+7A>T
NM_000051.4(ATM):c.72+8A>G rs2135007393
NM_000051.4(ATM):c.72+8del
NM_000051.4(ATM):c.72+9T>C rs2135007450
NM_000051.4(ATM):c.7200A>G (p.Arg2400=) rs1060501534
NM_000051.4(ATM):c.720C>T (p.Leu240=) rs1254593530
NM_000051.4(ATM):c.7212C>T (p.Tyr2404=) rs1591151390
NM_000051.4(ATM):c.7218A>G (p.Lys2406=) rs1321705346
NM_000051.4(ATM):c.7221A>C (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7221A>T (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7236C>T (p.Asn2412=)
NM_000051.4(ATM):c.7239G>A (p.Lys2413=) rs1555122182
NM_000051.4(ATM):c.7242A>G (p.Gln2414=) rs761907546
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7251G>A (p.Leu2417=) rs2136420487
NM_000051.4(ATM):c.7257A>G (p.Arg2419=) rs1591151857
NM_000051.4(ATM):c.7263A>G (p.Lys2421=) rs1555122232
NM_000051.4(ATM):c.726T>C (p.Thr242=) rs1555067070
NM_000051.4(ATM):c.7278C>T (p.Leu2426=) rs2136422492
NM_000051.4(ATM):c.7281T>C (p.Leu2427=) rs1239369148
NM_000051.4(ATM):c.7284G>A (p.Arg2428=) rs1591152279
NM_000051.4(ATM):c.7287A>G (p.Glu2429=)
NM_000051.4(ATM):c.7290T>C (p.His2430=) rs876658715
NM_000051.4(ATM):c.7299G>A (p.Gln2433=) rs1057520451
NM_000051.4(ATM):c.73-11T>A rs2135009950
NM_000051.4(ATM):c.73-12T>C rs2078815559
NM_000051.4(ATM):c.73-14C>T
NM_000051.4(ATM):c.73-18T>C
NM_000051.4(ATM):c.73-18T>G
NM_000051.4(ATM):c.73-4T>G rs1565344387
NM_000051.4(ATM):c.73-9T>A rs1591446620
NM_000051.4(ATM):c.73-9T>C rs1591446620
NM_000051.4(ATM):c.7302A>G (p.Thr2434=) rs752125292
NM_000051.4(ATM):c.7307+14T>C
NM_000051.4(ATM):c.7307+15A>G
NM_000051.4(ATM):c.7307+17A>T
NM_000051.4(ATM):c.7307+18A>G rs777909508
NM_000051.4(ATM):c.7307+19G>T
NM_000051.4(ATM):c.7307+19del
NM_000051.4(ATM):c.7307+20T>C
NM_000051.4(ATM):c.7307+7A>G
NM_000051.4(ATM):c.7307+8G>A
NM_000051.4(ATM):c.7307+8G>C rs1057523631
NM_000051.4(ATM):c.7308-10T>C rs745319720
NM_000051.4(ATM):c.7308-10dup rs1555122910
NM_000051.4(ATM):c.7308-11T>C rs1565529149
NM_000051.4(ATM):c.7308-15_7308-12dup rs2136450158
NM_000051.4(ATM):c.7308-17T>C
NM_000051.4(ATM):c.7308-17T>G
NM_000051.4(ATM):c.7308-19C>A rs2136449985
NM_000051.4(ATM):c.7308-20_7308-16del rs2136449779
NM_000051.4(ATM):c.7308-4C>T
NM_000051.4(ATM):c.7308-5G>A rs2086108867
NM_000051.4(ATM):c.7308-7A>G rs1476284330
NM_000051.4(ATM):c.7308-8T>C rs1555122924
NM_000051.4(ATM):c.7308-8T>G
NM_000051.4(ATM):c.7308-9C>A rs878853541
NM_000051.4(ATM):c.7308-9C>T rs878853541
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=) rs763470424
NM_000051.4(ATM):c.732T>A (p.Ala244=) rs2135239123
NM_000051.4(ATM):c.7333C>T (p.Leu2445=) rs763068664
NM_000051.4(ATM):c.7335G>A (p.Leu2445=) rs2136453475
NM_000051.4(ATM):c.7339T>C (p.Leu2447=) rs1591159997
NM_000051.4(ATM):c.7341G>A (p.Leu2447=)
NM_000051.4(ATM):c.7347A>G (p.Glu2449=) rs2136454257
NM_000051.4(ATM):c.7350A>G (p.Leu2450=)
NM_000051.4(ATM):c.7353C>T (p.Ala2451=) rs1591160115
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
NM_000051.4(ATM):c.7356G>C (p.Leu2452=)
NM_000051.4(ATM):c.735C>G (p.Val245=) rs3218674
NM_000051.4(ATM):c.7362A>C (p.Ala2454=) rs1591160216
NM_000051.4(ATM):c.7365G>A (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7365G>C (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7368A>G (p.Lys2456=) rs2136455679
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.7389A>G (p.Leu2463=) rs2136457026
NM_000051.4(ATM):c.738C>T (p.Asn246=)
NM_000051.4(ATM):c.7398A>G (p.Ala2466=) rs2136457427
NM_000051.4(ATM):c.7401T>G (p.Val2467=) rs1565529761
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=) rs1555123144
NM_000051.4(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.4(ATM):c.7420T>C (p.Leu2474=) rs1555123149
NM_000051.4(ATM):c.7422A>G (p.Leu2474=) rs1591160792
NM_000051.4(ATM):c.7423T>C (p.Leu2475=) rs2136459027
NM_000051.4(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.4(ATM):c.7434A>G (p.Glu2478=) rs1555123171
NM_000051.4(ATM):c.7437A>G (p.Glu2479=) rs1591160964
NM_000051.4(ATM):c.7443T>C (p.Asp2481=) rs1555123181
NM_000051.4(ATM):c.744A>C (p.Arg248=) rs1591503905
NM_000051.4(ATM):c.7452A>G (p.Val2484=) rs2136460667
NM_000051.4(ATM):c.7461T>G (p.Leu2487=)
NM_000051.4(ATM):c.7464T>C (p.Cys2488=) rs1555123227
NM_000051.4(ATM):c.7467C>A (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7467C>T (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7470C>G (p.Leu2490=) rs1057521604
NM_000051.4(ATM):c.7476T>G (p.Leu2492=) rs2136462119
NM_000051.4(ATM):c.7485T>G (p.Ser2495=)
NM_000051.4(ATM):c.7500C>T (p.Val2500=) rs1060504286
NM_000051.4(ATM):c.7506C>T (p.Gly2502=)
NM_000051.4(ATM):c.750A>C (p.Arg250=)
NM_000051.4(ATM):c.750A>G (p.Arg250=) rs1555067112
NM_000051.4(ATM):c.7515+14A>C
NM_000051.4(ATM):c.7515+14A>G
NM_000051.4(ATM):c.7515+18C>A
NM_000051.4(ATM):c.7515+19A>G
NM_000051.4(ATM):c.7515+19A>T rs879254202
NM_000051.4(ATM):c.7515+22_7515+23del rs2136466787
NM_000051.4(ATM):c.7515+7G>A rs2136465577
NM_000051.4(ATM):c.7515+9T>A rs1465593444
NM_000051.4(ATM):c.7515+9T>G rs1465593444
NM_000051.4(ATM):c.7516-11T>G
NM_000051.4(ATM):c.7516-13T>G rs2136489988
NM_000051.4(ATM):c.7516-14T>A
NM_000051.4(ATM):c.7516-14T>C rs1254619756
NM_000051.4(ATM):c.7516-16T>C rs2086218796
NM_000051.4(ATM):c.7516-16T>G
NM_000051.4(ATM):c.7516-18T>A
NM_000051.4(ATM):c.7516-18T>C
NM_000051.4(ATM):c.7516-20T>C
NM_000051.4(ATM):c.7516-20T>G rs2136489275
NM_000051.4(ATM):c.7516-4G>A
NM_000051.4(ATM):c.7516-4G>T rs876660105
NM_000051.4(ATM):c.7516-6T>C rs1057521003
NM_000051.4(ATM):c.7516-7del rs1591166840
NM_000051.4(ATM):c.7516-8A>T rs2136490103
NM_000051.4(ATM):c.7516-9T>A rs2086219990
NM_000051.4(ATM):c.7518A>G (p.Arg2506=) rs2086221982
NM_000051.4(ATM):c.7533T>C (p.Ile2511=) rs786201279
NM_000051.4(ATM):c.7536A>G (p.Pro2512=) rs786202802
NM_000051.4(ATM):c.7539A>C (p.Thr2513=)
NM_000051.4(ATM):c.7539A>T (p.Thr2513=)
NM_000051.4(ATM):c.7557T>C (p.Leu2519=) rs1060504266
NM_000051.4(ATM):c.7567T>C (p.Leu2523=) rs1565532289
NM_000051.4(ATM):c.756T>C (p.Cys252=) rs2079762952
NM_000051.4(ATM):c.7575T>C (p.Ala2525=)
NM_000051.4(ATM):c.7587C>G (p.Thr2529=)
NM_000051.4(ATM):c.7587C>T (p.Thr2529=) rs890244103
NM_000051.4(ATM):c.7599A>G (p.Gly2533=) rs2136497122
NM_000051.4(ATM):c.759A>G (p.Glu253=) rs2135239992
NM_000051.4(ATM):c.7605A>G (p.Leu2535=) rs1591167954
NM_000051.4(ATM):c.7614T>C (p.His2538=)
NM_000051.4(ATM):c.7623C>T (p.Leu2541=) rs2086235791
NM_000051.4(ATM):c.7626T>C (p.Asn2542=)
NM_000051.4(ATM):c.7629+12T>G
NM_000051.4(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.4(ATM):c.7629+13G>A rs563651647
NM_000051.4(ATM):c.7629+14A>C
NM_000051.4(ATM):c.7629+14A>G rs2136500635
NM_000051.4(ATM):c.7629+7A>T
NM_000051.4(ATM):c.7629+8A>T
NM_000051.4(ATM):c.7629+9A>C rs2136500176
NM_000051.4(ATM):c.7629+9A>G
NM_000051.4(ATM):c.7630-11T>C
NM_000051.4(ATM):c.7630-12C>A
NM_000051.4(ATM):c.7630-15G>A
NM_000051.4(ATM):c.7630-16A>G rs2136513501
NM_000051.4(ATM):c.7630-16_7630-10del rs2136513424
NM_000051.4(ATM):c.7630-16_7630-14del
NM_000051.4(ATM):c.7630-19A>C
NM_000051.4(ATM):c.7630-19A>G
NM_000051.4(ATM):c.7630-7C>A rs730881276
NM_000051.4(ATM):c.7630-7C>T rs730881276
NM_000051.4(ATM):c.7632A>C (p.Leu2544=) rs1363431568
NM_000051.4(ATM):c.7632A>G (p.Leu2544=)
NM_000051.4(ATM):c.7647A>G (p.Ser2549=)
NM_000051.4(ATM):c.7647A>T (p.Ser2549=) rs1591171175
NM_000051.4(ATM):c.7653T>C (p.Asp2551=)
NM_000051.4(ATM):c.7656C>T (p.His2552=) rs1555124473
NM_000051.4(ATM):c.7659C>T (p.Pro2553=) rs1591171386
NM_000051.4(ATM):c.765A>C (p.Gly255=) rs1591504056
NM_000051.4(ATM):c.765A>G (p.Gly255=) rs1591504056
NM_000051.4(ATM):c.7665C>T (p.His2555=) rs908781160
NM_000051.4(ATM):c.7674T>C (p.Phe2558=) rs1291388225
NM_000051.4(ATM):c.7677T>C (p.Ile2559=) rs2136519388
NM_000051.4(ATM):c.7681C>T (p.Leu2561=) rs1060504314
NM_000051.4(ATM):c.7683G>C (p.Leu2561=) rs2136519792
NM_000051.4(ATM):c.7695T>C (p.Asn2565=) rs2086296795
NM_000051.4(ATM):c.7698A>G (p.Ala2566=)
NM_000051.4(ATM):c.7701C>T (p.Asn2567=) rs786201637
NM_000051.4(ATM):c.7710A>G (p.Glu2570=) rs760215505
NM_000051.4(ATM):c.7714C>T (p.Leu2572=) rs1472587727
NM_000051.4(ATM):c.7719T>G (p.Thr2573=) rs2136523339
NM_000051.4(ATM):c.771A>G (p.Glu257=) rs786201068
NM_000051.4(ATM):c.7731A>G (p.Val2577=) rs2136524528
NM_000051.4(ATM):c.7734C>G (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7734C>T (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7735A>C (p.Arg2579=) rs2136524882
NM_000051.4(ATM):c.7743C>T (p.Ser2581=)
NM_000051.4(ATM):c.7744A>C (p.Arg2582=)
NM_000051.4(ATM):c.7749A>T (p.Ile2583=) rs2136526242
NM_000051.4(ATM):c.7752T>C (p.Thr2584=) rs2136526454
NM_000051.4(ATM):c.7758T>C (p.Asn2586=) rs2136526693
NM_000051.4(ATM):c.7764T>A (p.Pro2588=) rs1591172609
NM_000051.4(ATM):c.7770A>G (p.Gln2590=) rs864622437
NM_000051.4(ATM):c.7773C>T (p.Ser2591=) rs1045232065
NM_000051.4(ATM):c.7776T>G (p.Ser2592=)
NM_000051.4(ATM):c.777T>A (p.Leu259=)
NM_000051.4(ATM):c.777T>C (p.Leu259=) rs2135240556
NM_000051.4(ATM):c.7782T>A (p.Leu2594=) rs905474729
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.7788+10T>C rs1555124759
NM_000051.4(ATM):c.7788+10T>G rs1555124759
NM_000051.4(ATM):c.7788+12A>C
NM_000051.4(ATM):c.7788+12A>T rs1555124760
NM_000051.4(ATM):c.7788+18_7788+19del
NM_000051.4(ATM):c.7788+19C>A
NM_000051.4(ATM):c.7788+19C>G rs201990371
NM_000051.4(ATM):c.7788+20G>T
NM_000051.4(ATM):c.7788+20_7788+24del
NM_000051.4(ATM):c.7788+8G>C
NM_000051.4(ATM):c.7788+9A>G rs1182105888
NM_000051.4(ATM):c.7789-11T>C
NM_000051.4(ATM):c.7789-14T>C
NM_000051.4(ATM):c.7789-16T>C
NM_000051.4(ATM):c.7789-16T>G
NM_000051.4(ATM):c.7789-17T>C
NM_000051.4(ATM):c.7789-18T>A
NM_000051.4(ATM):c.7789-19T>C rs560800769
NM_000051.4(ATM):c.7789-29_7789-16del
NM_000051.4(ATM):c.7789-5A>C
NM_000051.4(ATM):c.7789-5A>G
NM_000051.4(ATM):c.7789-8A>G rs1591177900
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.7789-9T>C
NM_000051.4(ATM):c.7791T>C (p.Asp2597=)
NM_000051.4(ATM):c.7794A>C (p.Arg2598=) rs1555125220
NM_000051.4(ATM):c.7797A>G (p.Thr2599=) rs2086405045
NM_000051.4(ATM):c.7800G>A (p.Glu2600=) rs1591178097
NM_000051.4(ATM):c.7809T>C (p.Asn2603=) rs2136562134
NM_000051.4(ATM):c.7824T>C (p.Thr2608=)
NM_000051.4(ATM):c.7827C>T (p.Ile2609=) rs768423205
NM_000051.4(ATM):c.7828A>C (p.Arg2610=)
NM_000051.4(ATM):c.7833T>C (p.Ser2611=) rs2136564372
NM_000051.4(ATM):c.7834A>C (p.Arg2612=) rs1305691166
NM_000051.4(ATM):c.7836G>A (p.Arg2612=) rs761324887
NM_000051.4(ATM):c.7842T>G (p.Pro2614=) rs876660827
NM_000051.4(ATM):c.7860T>G (p.Val2620=) rs1555125353
NM_000051.4(ATM):c.7878T>G (p.Ala2626=) rs2086422316
NM_000051.4(ATM):c.7881T>C (p.Tyr2627=) rs2086423868
NM_000051.4(ATM):c.7896C>T (p.Asn2632=) rs1591179036
NM_000051.4(ATM):c.7899A>G (p.Leu2633=) rs2086426925
NM_000051.4(ATM):c.78A>G (p.Glu26=) rs786202953
NM_000051.4(ATM):c.7911G>A (p.Gln2637=) rs2136572151
NM_000051.4(ATM):c.7917G>A (p.Lys2639=) rs1555125501
NM_000051.4(ATM):c.7927+12T>C
NM_000051.4(ATM):c.7927+13T>C
NM_000051.4(ATM):c.7927+14A>C rs770850205
NM_000051.4(ATM):c.7927+14A>G rs770850205
NM_000051.4(ATM):c.7927+14A>T
NM_000051.4(ATM):c.7927+16A>C rs746438364
NM_000051.4(ATM):c.7927+16A>G
NM_000051.4(ATM):c.7927+17G>A rs774276048
NM_000051.4(ATM):c.7927+20G>T
NM_000051.4(ATM):c.7928-10T>G rs188404773
NM_000051.4(ATM):c.7928-14dup
NM_000051.4(ATM):c.7928-15C>A
NM_000051.4(ATM):c.7928-18C>G
NM_000051.4(ATM):c.7928-18C>T
NM_000051.4(ATM):c.7928-3C>T rs1555126153
NM_000051.4(ATM):c.7928-4A>C rs876658629
NM_000051.4(ATM):c.7928-4A>G rs876658629
NM_000051.4(ATM):c.7928-5T>C rs1591183992
NM_000051.4(ATM):c.7928-7A>T
NM_000051.4(ATM):c.7928-8A>G rs2086542058
NM_000051.4(ATM):c.7928-9T>C rs1060504261
NM_000051.4(ATM):c.792T>C (p.Tyr264=)
NM_000051.4(ATM):c.7932C>T (p.Gly2644=) rs2136610997
NM_000051.4(ATM):c.7947A>C (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7947A>G (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7950C>T (p.Asp2650=) rs1060504298
NM_000051.4(ATM):c.7959T>C (p.Ile2653=) rs2136613483
NM_000051.4(ATM):c.795T>A (p.Ile265=) rs1290222131
NM_000051.4(ATM):c.795T>C (p.Ile265=) rs1290222131
NM_000051.4(ATM):c.7968T>C (p.Leu2656=) rs1591184410
NM_000051.4(ATM):c.7971G>A (p.Lys2657=)
NM_000051.4(ATM):c.7977A>G (p.Leu2659=) rs2136615106
NM_000051.4(ATM):c.7992C>T (p.Val2664=) rs1591184637
NM_000051.4(ATM):c.7995T>A (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.7995T>G (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.7C>T (p.Leu3=)
NM_000051.4(ATM):c.8010+11A>C rs760588708
NM_000051.4(ATM):c.8010+11A>G
NM_000051.4(ATM):c.8010+14A>T rs2136618870
NM_000051.4(ATM):c.8010+16C>T
NM_000051.4(ATM):c.8010+18C>A rs2086560371
NM_000051.4(ATM):c.8010+18C>G
NM_000051.4(ATM):c.8010+18C>T
NM_000051.4(ATM):c.8010+18_8010+19del rs750095790
NM_000051.4(ATM):c.8010+19T>C rs1555126346
NM_000051.4(ATM):c.8010+19T>G
NM_000051.4(ATM):c.8010+20T>C rs2136619908
NM_000051.4(ATM):c.8010+21_8010+24del
NM_000051.4(ATM):c.8010+30_8010+31insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCTTGATTTTTTTT rs2136618959
NM_000051.4(ATM):c.8010+5T>G rs56256497
NM_000051.4(ATM):c.8010+9C>T
NM_000051.4(ATM):c.8011-12T>C rs2136651285
NM_000051.4(ATM):c.8011-13A>T
NM_000051.4(ATM):c.8011-16T>C rs776948701
NM_000051.4(ATM):c.8011-17G>A
NM_000051.4(ATM):c.8011-20C>A
NM_000051.4(ATM):c.8011-20C>T
NM_000051.4(ATM):c.8011-4_8011-2del rs2136651774
NM_000051.4(ATM):c.8011-6T>C rs762092284
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8011-7T>A
NM_000051.4(ATM):c.8011-7T>C rs2136651700
NM_000051.4(ATM):c.8011-8T>G rs1189310621
NM_000051.4(ATM):c.8011-9T>A
NM_000051.4(ATM):c.8011-9T>C rs1591190803
NM_000051.4(ATM):c.8016C>T (p.Asp2672=) rs1591191019
NM_000051.4(ATM):c.8022A>G (p.Thr2674=)
NM_000051.4(ATM):c.8028A>G (p.Glu2676=) rs1389648050
NM_000051.4(ATM):c.8043G>T (p.Val2681=)
NM_000051.4(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.4(ATM):c.8073C>G (p.Arg2691=) rs1215882325
NM_000051.4(ATM):c.8074T>C (p.Leu2692=)
NM_000051.4(ATM):c.8082A>C (p.Gly2694=) rs540266635
NM_000051.4(ATM):c.8085T>C (p.Gly2695=)
NM_000051.4(ATM):c.8088A>G (p.Val2696=) rs2136659987
NM_000051.4(ATM):c.8091T>C (p.Asn2697=) rs756887364
NM_000051.4(ATM):c.8092T>C (p.Leu2698=)
NM_000051.4(ATM):c.8094A>G (p.Leu2698=) rs786203569
NM_000051.4(ATM):c.8103A>T (p.Ile2701=) rs779803253
NM_000051.4(ATM):c.8115A>C (p.Val2705=) rs1188411746
NM_000051.4(ATM):c.8118T>C (p.Gly2706=) rs1057520990
NM_000051.4(ATM):c.8124T>C (p.Asp2708=) rs587781990
NM_000051.4(ATM):c.8127C>T (p.Gly2709=)
NM_000051.4(ATM):c.8130G>A (p.Lys2710=)
NM_000051.4(ATM):c.8133G>A (p.Glu2711=) rs1591192322
NM_000051.4(ATM):c.8145T>C (p.Leu2715=)
NM_000051.4(ATM):c.8151+11C>A rs555381912
NM_000051.4(ATM):c.8151+11_8151+17del
NM_000051.4(ATM):c.8151+13T>G
NM_000051.4(ATM):c.8151+16_8151+18dup
NM_000051.4(ATM):c.8151+17C>T rs761029795
NM_000051.4(ATM):c.8151+20G>A
NM_000051.4(ATM):c.8151+3G>A rs760065522
NM_000051.4(ATM):c.8152-11T>C rs2136690464
NM_000051.4(ATM):c.8152-16C>G rs1555128173
NM_000051.4(ATM):c.8152-17del rs2136689987
NM_000051.4(ATM):c.8152-18T>C
NM_000051.4(ATM):c.8152-20C>G
NM_000051.4(ATM):c.8152-20C>T rs1555128158
NM_000051.4(ATM):c.8152-4G>A
NM_000051.4(ATM):c.8152-4G>C
NM_000051.4(ATM):c.8152-5T>C
NM_000051.4(ATM):c.8152-7T>C rs2086778829
NM_000051.4(ATM):c.8152-8T>C
NM_000051.4(ATM):c.8152-9A>G rs1555128181
NM_000051.4(ATM):c.8152-9A>T
NM_000051.4(ATM):c.8154C>G (p.Gly2718=) rs371021126
NM_000051.4(ATM):c.8157T>C (p.Arg2719=) rs2136691533
NM_000051.4(ATM):c.8166G>C (p.Leu2722=)
NM_000051.4(ATM):c.8178T>G (p.Ala2726=) rs367575159
NM_000051.4(ATM):c.8181C>T (p.Val2727=) rs2136693653
NM_000051.4(ATM):c.8187A>G (p.Gln2729=) rs587781946
NM_000051.4(ATM):c.8193C>A (p.Val2731=) rs1060504307
NM_000051.4(ATM):c.81T>G (p.Val27=) rs2135010830
NM_000051.4(ATM):c.8205T>C (p.Cys2735=) rs2136696071
NM_000051.4(ATM):c.8208T>C (p.Asn2736=) rs1057523318
NM_000051.4(ATM):c.8211A>G (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8211A>T (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8215C>T (p.Leu2739=) rs1060504311
NM_000051.4(ATM):c.8217G>T (p.Leu2739=) rs759069006
NM_000051.4(ATM):c.8220G>A (p.Gln2740=) rs1060504313
NM_000051.4(ATM):c.8226C>T (p.Asn2742=) rs2136697809
NM_000051.4(ATM):c.822T>G (p.Ser274=)
NM_000051.4(ATM):c.8235T>C (p.Thr2745=) rs2136698319
NM_000051.4(ATM):c.823T>C (p.Leu275=)
NM_000051.4(ATM):c.8244G>A (p.Arg2748=) rs1591199166
NM_000051.4(ATM):c.8259T>C (p.Cys2753=)
NM_000051.4(ATM):c.8262T>G (p.Thr2754=) rs1057521506
NM_000051.4(ATM):c.8268+14C>T rs1057520231
NM_000051.4(ATM):c.8268+15T>A rs1555128691
NM_000051.4(ATM):c.8268+15T>G rs1555128691
NM_000051.4(ATM):c.8268+17_8268+18del
NM_000051.4(ATM):c.8268+18T>A
NM_000051.4(ATM):c.8268+19G>T rs1415660878
NM_000051.4(ATM):c.8268+22_8268+25del rs746285826
NM_000051.4(ATM):c.8268+7A>G rs1057524565
NM_000051.4(ATM):c.8268+7A>T rs1057524565
NM_000051.4(ATM):c.8268+8T>A rs1263247290
NM_000051.4(ATM):c.8268+8T>G
NM_000051.4(ATM):c.8268+9T>C rs2136701769
NM_000051.4(ATM):c.8269-10G>A
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8269-12C>G
NM_000051.4(ATM):c.8269-12C>T
NM_000051.4(ATM):c.8269-13del rs2136938446
NM_000051.4(ATM):c.8269-18_8269-15del rs1064794684
NM_000051.4(ATM):c.8269-19del
NM_000051.4(ATM):c.8269-20T>C
NM_000051.4(ATM):c.8269-5T>G rs1555135331
NM_000051.4(ATM):c.8269-6C>T rs1284643640
NM_000051.4(ATM):c.8269-6dup
NM_000051.4(ATM):c.8269-9T>C rs2136938827
NM_000051.4(ATM):c.8274T>A (p.Val2758=)
NM_000051.4(ATM):c.8277C>T (p.Pro2759=) rs878853548
NM_000051.4(ATM):c.8283T>G (p.Ser2761=) rs1591247541
NM_000051.4(ATM):c.8289A>G (p.Arg2763=) rs2136941755
NM_000051.4(ATM):c.8292T>C (p.Ser2764=) rs781690523
NM_000051.4(ATM):c.8301T>C (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8301T>G (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8304A>G (p.Glu2768=)
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8313A>G (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8319T>C (p.Thr2773=) rs1591248170
NM_000051.4(ATM):c.8322C>A (p.Val2774=) rs1060504267
NM_000051.4(ATM):c.8322C>T (p.Val2774=)
NM_000051.4(ATM):c.8325C>A (p.Pro2775=)
NM_000051.4(ATM):c.8325C>T (p.Pro2775=)
NM_000051.4(ATM):c.8340T>C (p.Leu2780=)
NM_000051.4(ATM):c.8346C>T (p.Asn2782=) rs999357615
NM_000051.4(ATM):c.8367A>G (p.Lys2789=) rs1393366622
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=) rs1060504292
NM_000051.4(ATM):c.8379A>G (p.Pro2793=)
NM_000051.4(ATM):c.837T>A (p.Ile279=) rs2135242369
NM_000051.4(ATM):c.837T>C (p.Ile279=) rs2135242369
NM_000051.4(ATM):c.8382T>C (p.Asn2794=)
NM_000051.4(ATM):c.8394C>G (p.Ala2798=)
NM_000051.4(ATM):c.8394C>T (p.Ala2798=) rs2136951901
NM_000051.4(ATM):c.8400G>A (p.Gln2800=)
NM_000051.4(ATM):c.8403C>T (p.Cys2801=) rs1555135852
NM_000051.4(ATM):c.8406A>G (p.Gln2802=) rs2136952999
NM_000051.4(ATM):c.8418+10A>T
NM_000051.4(ATM):c.8418+11C>G
NM_000051.4(ATM):c.8418+11C>T
NM_000051.4(ATM):c.8418+12C>A
NM_000051.4(ATM):c.8418+12C>T
NM_000051.4(ATM):c.8418+13C>G
NM_000051.4(ATM):c.8418+14A>C rs1555135939
NM_000051.4(ATM):c.8418+15A>C rs1565558731
NM_000051.4(ATM):c.8418+15A>G
NM_000051.4(ATM):c.8418+17A>G rs2136955270
NM_000051.4(ATM):c.8418+18T>C
NM_000051.4(ATM):c.8418+681A>C
NM_000051.4(ATM):c.8418+7G>A rs2136954579
NM_000051.4(ATM):c.8418+7G>T
NM_000051.4(ATM):c.8418+8A>G rs1591249687
NM_000051.4(ATM):c.8418+8A>T rs1591249687
NM_000051.4(ATM):c.8418+9C>T
NM_000051.4(ATM):c.8419-10C>G rs2137022388
NM_000051.4(ATM):c.8419-11T>C
NM_000051.4(ATM):c.8419-14T>A
NM_000051.4(ATM):c.8419-14T>C rs1441150092
NM_000051.4(ATM):c.8419-15A>T
NM_000051.4(ATM):c.8419-16T>C rs2137021914
NM_000051.4(ATM):c.8419-17A>G rs1057520452
NM_000051.4(ATM):c.8419-18T>C rs2088256725
NM_000051.4(ATM):c.8419-20T>C
NM_000051.4(ATM):c.8419-22TA[2] rs1257766623
NM_000051.4(ATM):c.8419-4A>G
NM_000051.4(ATM):c.8419-7T>C rs1591263768
NM_000051.4(ATM):c.8419-7_8419-4del rs730881306
NM_000051.4(ATM):c.8419-8A>G rs567215034
NM_000051.4(ATM):c.8421G>A (p.Glu2807=) rs1555137945
NM_000051.4(ATM):c.8424G>A (p.Val2808=)
NM_000051.4(ATM):c.8424G>T (p.Val2808=) rs786203870
NM_000051.4(ATM):c.8433G>A (p.Lys2811=)
NM_000051.4(ATM):c.8445G>A (p.Glu2815=) rs2137026158
NM_000051.4(ATM):c.8448A>G (p.Lys2816=) rs1555138048
NM_000051.4(ATM):c.844T>C (p.Leu282=) rs1565371944
NM_000051.4(ATM):c.8451T>C (p.Tyr2817=)
NM_000051.4(ATM):c.8454A>G (p.Glu2818=) rs2137026950
NM_000051.4(ATM):c.8457C>A (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8457C>G (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8457C>T (p.Val2819=)
NM_000051.4(ATM):c.8469T>A (p.Val2823=)
NM_000051.4(ATM):c.8469T>C (p.Val2823=) rs1555138081
NM_000051.4(ATM):c.846A>G (p.Leu282=) rs754008850
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.4(ATM):c.8472C>T (p.Cys2824=) rs1555138090
NM_000051.4(ATM):c.8475A>G (p.Gln2825=) rs769656947
NM_000051.4(ATM):c.8478T>C (p.Asn2826=) rs1315026465
NM_000051.4(ATM):c.8484A>G (p.Gln2828=)
NM_000051.4(ATM):c.8490T>C (p.Val2830=) rs773149592
NM_000051.4(ATM):c.8499C>T (p.Tyr2833=)
NM_000051.4(ATM):c.84G>A (p.Glu28=) rs1591446775
NM_000051.4(ATM):c.8502C>T (p.Phe2834=) rs1555138167
NM_000051.4(ATM):c.8505C>T (p.Cys2835=)
NM_000051.4(ATM):c.8514A>G (p.Lys2838=) rs1591264927
NM_000051.4(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.4(ATM):c.8526A>G (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8526A>T (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8541G>A (p.Glu2847=)
NM_000051.4(ATM):c.8544G>A (p.Lys2848=)
NM_000051.4(ATM):c.8545C>A (p.Arg2849=) rs587778080
NM_000051.4(ATM):c.8548T>C (p.Leu2850=) rs1555138320
NM_000051.4(ATM):c.8550G>A (p.Leu2850=) rs1591265370
NM_000051.4(ATM):c.8553T>C (p.Ala2851=) rs2137035844
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=) rs779394254
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8559G>C (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.855G>A (p.Leu285=) rs863224299
NM_000051.4(ATM):c.855G>C (p.Leu285=) rs863224299
NM_000051.4(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.4(ATM):c.8565T>C (p.Ser2855=) rs780905851
NM_000051.4(ATM):c.8568A>G (p.Val2856=) rs2137037514
NM_000051.4(ATM):c.8568A>T (p.Val2856=)
NM_000051.4(ATM):c.8571T>C (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8571T>G (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8580T>C (p.Ser2860=) rs1591265841
NM_000051.4(ATM):c.8584+11dup
NM_000051.4(ATM):c.8584+12G>A
NM_000051.4(ATM):c.8584+12G>C rs2137039977
NM_000051.4(ATM):c.8584+12del rs2137040055
NM_000051.4(ATM):c.8584+13T>G
NM_000051.4(ATM):c.8584+14A>G
NM_000051.4(ATM):c.8584+15C>G
NM_000051.4(ATM):c.8584+15_8584+20del rs2137040215
NM_000051.4(ATM):c.8584+15dup rs2137040530
NM_000051.4(ATM):c.8584+16A>C rs1322889530
NM_000051.4(ATM):c.8584+17T>C
NM_000051.4(ATM):c.8584+18A>G rs2137040788
NM_000051.4(ATM):c.8584+19del rs2137040977
NM_000051.4(ATM):c.8584+20_8584+36del
NM_000051.4(ATM):c.8584+7T>C rs1374271708
NM_000051.4(ATM):c.8584+7T>G rs1374271708
NM_000051.4(ATM):c.8584+9_8584+11del rs1064794534
NM_000051.4(ATM):c.8584+9del rs1565564405
NM_000051.4(ATM):c.8585-11T>C
NM_000051.4(ATM):c.8585-11T>G rs752428743
NM_000051.4(ATM):c.8585-12T>C
NM_000051.4(ATM):c.8585-13C>G
NM_000051.4(ATM):c.8585-14T>A
NM_000051.4(ATM):c.8585-14T>G
NM_000051.4(ATM):c.8585-16T>A rs2137076895
NM_000051.4(ATM):c.8585-17G>A
NM_000051.4(ATM):c.8585-17G>C
NM_000051.4(ATM):c.8585-17_8585-14del rs764013510
NM_000051.4(ATM):c.8585-18T>C
NM_000051.4(ATM):c.8585-19T>C rs2137076742
NM_000051.4(ATM):c.8585-4C>G rs1555139447
NM_000051.4(ATM):c.8585-4C>T rs1555139447
NM_000051.4(ATM):c.8585-5T>G
NM_000051.4(ATM):c.8585-6C>T rs2137077591
NM_000051.4(ATM):c.8585-7T>C
NM_000051.4(ATM):c.8585-8T>C rs2137077459
NM_000051.4(ATM):c.8585-9T>C rs2137077383
NM_000051.4(ATM):c.8589T>A (p.Gly2863=)
NM_000051.4(ATM):c.8589T>C (p.Gly2863=) rs1409265866
NM_000051.4(ATM):c.8598T>C (p.Leu2866=)
NM_000051.4(ATM):c.8601A>G (p.Gly2867=) rs1565567027
NM_000051.4(ATM):c.8604T>G (p.Leu2868=) rs2088545756
NM_000051.4(ATM):c.8607T>A (p.Gly2869=)
NM_000051.4(ATM):c.8607T>G (p.Gly2869=)
NM_000051.4(ATM):c.8610T>C (p.Asp2870=) rs1370524851
NM_000051.4(ATM):c.8616T>C (p.His2872=)
NM_000051.4(ATM):c.8628C>A (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8628C>T (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000051.4(ATM):c.8637T>C (p.Asn2879=)
NM_000051.4(ATM):c.8640G>A (p.Glu2880=)
NM_000051.4(ATM):c.864T>C (p.Tyr288=)
NM_000051.4(ATM):c.8655T>C (p.Leu2885=) rs1555139640
NM_000051.4(ATM):c.8658A>C (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8658A>T (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8661T>C (p.His2887=)
NM_000051.4(ATM):c.8668C>T (p.Leu2890=) rs587779874
NM_000051.4(ATM):c.8671+11A>G
NM_000051.4(ATM):c.8671+13A>G
NM_000051.4(ATM):c.8671+15C>G rs1438943849
NM_000051.4(ATM):c.8671+19G>A
NM_000051.4(ATM):c.8671+19G>T rs1308810219
NM_000051.4(ATM):c.8671+20T>C rs1057521774
NM_000051.4(ATM):c.8671+9T>C rs200190537
NM_000051.4(ATM):c.8672-11C>G rs2089488144
NM_000051.4(ATM):c.8672-13T>C
NM_000051.4(ATM):c.8672-16G>A
NM_000051.4(ATM):c.8672-20C>A
NM_000051.4(ATM):c.8672-5T>C rs1591306315
NM_000051.4(ATM):c.8672-5T>G rs1591306315
NM_000051.4(ATM):c.8672-6C>T
NM_000051.4(ATM):c.8672-7A>G rs2137284033
NM_000051.4(ATM):c.8672-7A>T
NM_000051.4(ATM):c.8672-8T>C
NM_000051.4(ATM):c.8672-9T>C rs2137283941
NM_000051.4(ATM):c.867C>A (p.Ile289=)
NM_000051.4(ATM):c.8691C>A (p.Gly2897=) rs1555142814
NM_000051.4(ATM):c.8700T>C (p.Leu2900=) rs2137288094
NM_000051.4(ATM):c.8706T>C (p.Thr2902=) rs1555142824
NM_000051.4(ATM):c.8712G>A (p.Glu2904=) rs1349488841
NM_000051.4(ATM):c.8715A>C (p.Thr2905=)
NM_000051.4(ATM):c.8715A>G (p.Thr2905=) rs786202933
NM_000051.4(ATM):c.8718T>A (p.Val2906=) rs1591306810
NM_000051.4(ATM):c.8727A>G (p.Arg2909=)
NM_000051.4(ATM):c.8730C>A (p.Leu2910=) rs551041839
NM_000051.4(ATM):c.8730C>T (p.Leu2910=)
NM_000051.4(ATM):c.8733C>A (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8733C>T (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8739T>C (p.Asp2913=) rs764778912
NM_000051.4(ATM):c.873T>C (p.His291=) rs1591504717
NM_000051.4(ATM):c.8748T>C (p.Asp2916=) rs2137293260
NM_000051.4(ATM):c.8751C>G (p.Gly2917=) rs779858366
NM_000051.4(ATM):c.8757C>T (p.Gly2919=) rs987508358
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8763G>T (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8766T>C (p.Gly2922=) rs1166849874
NM_000051.4(ATM):c.8769T>C (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.8769T>G (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.876G>T (p.Pro292=) rs755860432
NM_000051.4(ATM):c.8781C>T (p.Phe2927=) rs2137297059
NM_000051.4(ATM):c.8784A>G (p.Arg2928=) rs1565579622
NM_000051.4(ATM):c.8786+10A>G rs1591307673
NM_000051.4(ATM):c.8786+10dup
NM_000051.4(ATM):c.8786+11T>A
NM_000051.4(ATM):c.8786+11T>G rs368627124
NM_000051.4(ATM):c.8786+14A>C rs2137299188
NM_000051.4(ATM):c.8786+14A>G rs2137299188
NM_000051.4(ATM):c.8786+16T>A
NM_000051.4(ATM):c.8786+16T>C rs1057521277
NM_000051.4(ATM):c.8786+16T>G rs1057521277
NM_000051.4(ATM):c.8786+17A>G
NM_000051.4(ATM):c.8786+19del rs730881307
NM_000051.4(ATM):c.8786+20G>A rs56283878
NM_000051.4(ATM):c.8786+5_8786+9dup rs2137298148
NM_000051.4(ATM):c.8786+6_8786+9dup rs1312735736
NM_000051.4(ATM):c.8786+7G>A rs1555142923
NM_000051.4(ATM):c.8786+8A>G rs4986839
NM_000051.4(ATM):c.8786+9T>C rs1060504271
NM_000051.4(ATM):c.8787-11T>C
NM_000051.4(ATM):c.8787-11_8787-8dup
NM_000051.4(ATM):c.8787-12G>C rs1565582204
NM_000051.4(ATM):c.8787-14G>T
NM_000051.4(ATM):c.8787-17_8787-15del rs1349996464
NM_000051.4(ATM):c.8787-19A>G rs1555143457
NM_000051.4(ATM):c.8787-20T>A rs1352666899
NM_000051.4(ATM):c.8787-5T>C rs1479499265
NM_000051.4(ATM):c.8787-6C>T rs1591313765
NM_000051.4(ATM):c.8787-7A>G rs1591313741
NM_000051.4(ATM):c.8787-9dup
NM_000051.4(ATM):c.8790C>T (p.Cys2930=) rs1565582275
NM_000051.4(ATM):c.879A>G (p.Lys293=) rs864622069
NM_000051.4(ATM):c.87A>G (p.Lys29=) rs1591446799
NM_000051.4(ATM):c.8802C>G (p.Thr2934=) rs1565582354
NM_000051.4(ATM):c.8811G>A (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8811G>T (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8823T>C (p.Ser2941=) rs1060504288
NM_000051.4(ATM):c.8826G>A (p.Gln2942=)
NM_000051.4(ATM):c.8833C>T (p.Leu2945=) rs786203505
NM_000051.4(ATM):c.8841C>G (p.Thr2947=) rs2137353155
NM_000051.4(ATM):c.8841C>T (p.Thr2947=)
NM_000051.4(ATM):c.8850+13A>G rs2089708352
NM_000051.4(ATM):c.8850+13dup
NM_000051.4(ATM):c.8850+14T>C rs1294857465
NM_000051.4(ATM):c.8850+18G>A rs969877924
NM_000051.4(ATM):c.8850+20A>C rs2137357318
NM_000051.4(ATM):c.8850+5A>C rs1057522186
NM_000051.4(ATM):c.8850+6G>A rs2089704921
NM_000051.4(ATM):c.8850+7T>C rs2137355586
NM_000051.4(ATM):c.8850+9T>G rs571828498
NM_000051.4(ATM):c.8851-10C>G rs1057521676
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000051.4(ATM):c.8851-10_8851-7del rs1591384042
NM_000051.4(ATM):c.8851-12C>G
NM_000051.4(ATM):c.8851-15G>A rs1222455348
NM_000051.4(ATM):c.8851-15dup rs1565607238
NM_000051.4(ATM):c.8851-16T>C rs1565607217
NM_000051.4(ATM):c.8851-17A>G rs2091194046
NM_000051.4(ATM):c.8851-18T>C
NM_000051.4(ATM):c.8851-20C>T
NM_000051.4(ATM):c.8851-6G>A
NM_000051.4(ATM):c.8851-6G>C rs777096209
NM_000051.4(ATM):c.8851-6_8851-3dup
NM_000051.4(ATM):c.8851-8C>A
NM_000051.4(ATM):c.8853C>G (p.Val2951=) rs878853552
NM_000051.4(ATM):c.8853C>T (p.Val2951=)
NM_000051.4(ATM):c.8856T>C (p.Leu2952=)
NM_000051.4(ATM):c.885C>T (p.Ala295=) rs2135243805
NM_000051.4(ATM):c.8868A>C (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.8868A>T (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.8871C>T (p.Leu2957=)
NM_000051.4(ATM):c.8877C>T (p.Asp2959=)
NM_000051.4(ATM):c.8889T>C (p.Asn2963=) rs1476881353
NM_000051.4(ATM):c.888A>G (p.Lys296=) rs1023530965
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.8901T>A (p.Ala2967=)
NM_000051.4(ATM):c.8919G>A (p.Arg2973=) rs786203613
NM_000051.4(ATM):c.891C>G (p.Thr297=) rs575285986
NM_000051.4(ATM):c.891C>T (p.Thr297=)
NM_000051.4(ATM):c.8928T>C (p.Asp2976=) rs786202343
NM_000051.4(ATM):c.8934T>C (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8934T>G (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8937G>A (p.Glu2979=) rs876658242
NM_000051.4(ATM):c.8946T>C (p.Pro2982=) rs780572651
NM_000051.4(ATM):c.894A>G (p.Gln298=)
NM_000051.4(ATM):c.8950C>T (p.Leu2984=) rs747445236
NM_000051.4(ATM):c.8952G>A (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>C (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>T (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8958A>C (p.Ala2986=) rs863224567
NM_000051.4(ATM):c.8958A>T (p.Ala2986=)
NM_000051.4(ATM):c.8967A>G (p.Gln2989=) rs876659033
NM_000051.4(ATM):c.8979A>C (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.8979A>G (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.897A>G (p.Glu299=) rs2135244327
NM_000051.4(ATM):c.8982T>C (p.Asn2994=) rs2137888159
NM_000051.4(ATM):c.8985C>T (p.Leu2995=) rs771675608
NM_000051.4(ATM):c.8987+10A>G rs1060504308
NM_000051.4(ATM):c.8987+11T>G rs1555151554
NM_000051.4(ATM):c.8987+12T>C
NM_000051.4(ATM):c.8987+13T>C
NM_000051.4(ATM):c.8987+19A>C
NM_000051.4(ATM):c.8987+5G>C rs876660570
NM_000051.4(ATM):c.8987+6_8987+17dup
NM_000051.4(ATM):c.8987+7A>G
NM_000051.4(ATM):c.8987+8G>C rs2137889967
NM_000051.4(ATM):c.8987+9T>C
NM_000051.4(ATM):c.8988-10T>C rs2137901897
NM_000051.4(ATM):c.8988-12T>A rs1370262422
NM_000051.4(ATM):c.8988-13T>A
NM_000051.4(ATM):c.8988-13T>C rs756571175
NM_000051.4(ATM):c.8988-13T>G rs756571175
NM_000051.4(ATM):c.8988-14G>A
NM_000051.4(ATM):c.8988-14_8988-13del
NM_000051.4(ATM):c.8988-16G>A
NM_000051.4(ATM):c.8988-17dup rs2137900748
NM_000051.4(ATM):c.8988-18T>G
NM_000051.4(ATM):c.8988-18_8988-17del
NM_000051.4(ATM):c.8988-19T>C rs2137900568
NM_000051.4(ATM):c.8988-5C>T rs1591386387
NM_000051.4(ATM):c.8988-6C>T
NM_000051.4(ATM):c.8988-7T>A rs1487809821
NM_000051.4(ATM):c.8988-8G>A rs1555151666
NM_000051.4(ATM):c.8988-9T>C rs2137902045
NM_000051.4(ATM):c.8997C>T (p.Asp2999=)
NM_000051.4(ATM):c.901+11A>T
NM_000051.4(ATM):c.901+14G>A rs2079777585
NM_000051.4(ATM):c.901+15T>A rs2135244985
NM_000051.4(ATM):c.901+17T>A
NM_000051.4(ATM):c.901+17T>C rs774302699
NM_000051.4(ATM):c.901+18A>G rs1555067368
NM_000051.4(ATM):c.901+20T>C rs2135245162
NM_000051.4(ATM):c.901+6A>C rs1555067357
NM_000051.4(ATM):c.901+7A>C
NM_000051.4(ATM):c.901+7del
NM_000051.4(ATM):c.901+8G>A rs1468806933
NM_000051.4(ATM):c.9012A>G (p.Lys3004=) rs2137907131
NM_000051.4(ATM):c.9018T>C (p.Ala3006=) rs2091236849
NM_000051.4(ATM):c.902-10T>C rs2135264378
NM_000051.4(ATM):c.902-14T>G
NM_000051.4(ATM):c.902-15T>C rs2135264272
NM_000051.4(ATM):c.902-17A>T
NM_000051.4(ATM):c.902-17_902-16insT
NM_000051.4(ATM):c.902-18T>C
NM_000051.4(ATM):c.902-20T>G
NM_000051.4(ATM):c.902-7A>G rs2135264458
NM_000051.4(ATM):c.902-8G>T
NM_000051.4(ATM):c.9021A>G (p.Glu3007=)
NM_000051.4(ATM):c.9024T>C (p.Arg3008=) rs876658179
NM_000051.4(ATM):c.9027C>A (p.Val3009=) rs1200351979
NM_000051.4(ATM):c.9027C>G (p.Val3009=) rs1200351979
NM_000051.4(ATM):c.9028T>C (p.Leu3010=)
NM_000051.4(ATM):c.9039A>G (p.Leu3013=) rs876659127
NM_000051.4(ATM):c.903T>A (p.Gly301=) rs876659335
NM_000051.4(ATM):c.903T>G (p.Gly301=) rs876659335
NM_000051.4(ATM):c.9042A>G (p.Gln3014=) rs1060504291
NM_000051.4(ATM):c.9048A>G (p.Lys3016=) rs553001467
NM_000051.4(ATM):c.9051G>A (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9051G>C (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9060G>A (p.Val3020=) rs864622625
NM_000051.4(ATM):c.9063A>G (p.Glu3021=) rs1555151874
NM_000051.4(ATM):c.9078C>G (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.9078C>T (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.9081T>C (p.Ser3027=) rs2091248229
NM_000051.4(ATM):c.9084T>C (p.Val3028=) rs786203210
NM_000051.4(ATM):c.9096G>A (p.Val3032=) rs1565609478
NM_000051.4(ATM):c.9096G>C (p.Val3032=)
NM_000051.4(ATM):c.909T>C (p.Tyr303=) rs1555068288
NM_000051.4(ATM):c.9100T>C (p.Leu3034=) rs2091251592
NM_000051.4(ATM):c.9102G>A (p.Leu3034=)
NM_000051.4(ATM):c.9105C>T (p.Leu3035=)
NM_000051.4(ATM):c.9108A>C (p.Ile3036=)
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000051.4(ATM):c.9117C>T (p.Ala3039=) rs1289926943
NM_000051.4(ATM):c.9126C>G (p.Pro3042=)
NM_000051.4(ATM):c.9135C>T (p.Leu3045=) rs2137926498
NM_000051.4(ATM):c.9144T>A (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9144T>C (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9147C>T (p.Phe3049=)
NM_000051.4(ATM):c.9150A>G (p.Pro3050=) rs2137928625
NM_000051.4(ATM):c.9153A>C (p.Gly3051=) rs1555152080
NM_000051.4(ATM):c.9159A>G (p.Lys3053=) rs1060504315
NM_000051.4(ATM):c.915A>C (p.Ser305=)
NM_000051.4(ATM):c.9168G>A (p.Val3056=) rs1591388522
NM_000051.4(ATM):c.9170G>A (p.Ter3057=)
NM_000051.4(ATM):c.925A>C (p.Arg309=) rs876659841
NM_000051.4(ATM):c.927A>G (p.Arg309=) rs935834518
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.939C>T (p.Tyr313=) rs1387179773
NM_000051.4(ATM):c.942C>T (p.Asn314=)
NM_000051.4(ATM):c.943T>C (p.Leu315=)
NM_000051.4(ATM):c.948T>C (p.Tyr316=) rs775091961
NM_000051.4(ATM):c.951T>C (p.Asp317=)
NM_000051.4(ATM):c.957A>G (p.Leu319=) rs1060501542
NM_000051.4(ATM):c.963T>C (p.Asn321=) rs863224301
NM_000051.4(ATM):c.966G>A (p.Glu322=)
NM_000051.4(ATM):c.96C>T (p.Arg32=) rs1305090923
NM_000051.4(ATM):c.975T>C (p.His325=) rs746825207
NM_000051.4(ATM):c.981A>G (p.Gly327=)
NM_000051.4(ATM):c.987A>G (p.Arg329=) rs2079884541
NM_000051.4(ATM):c.99G>A (p.Leu33=)
NM_000051.4(ATM):c.99G>C (p.Leu33=)
NM_000051.4(ATM):c.9A>G (p.Leu3=) rs1555053869
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000231.3(SGCG):c.*136T>C rs3751372
NM_000370.3(TTPA):c.*932G>A rs547975805
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.663+10_663+11insAC rs757003890
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000784.4(CYP27A1):c.1017+10G>T
NM_000784.4(CYP27A1):c.1017+11G>C rs766039123
NM_000784.4(CYP27A1):c.1017+11G>T rs766039123
NM_000784.4(CYP27A1):c.1017+14G>C rs1196582375
NM_000784.4(CYP27A1):c.1017+15_1017+18del rs1679085939
NM_000784.4(CYP27A1):c.1017+16G>T
NM_000784.4(CYP27A1):c.1017+17G>A rs1431354879
NM_000784.4(CYP27A1):c.1017+17G>T
NM_000784.4(CYP27A1):c.1017+18G>C
NM_000784.4(CYP27A1):c.1017+18G>T
NM_000784.4(CYP27A1):c.1018-11C>G
NM_000784.4(CYP27A1):c.1018-13C>T
NM_000784.4(CYP27A1):c.1018-16C>T
NM_000784.4(CYP27A1):c.1018-19C>A
NM_000784.4(CYP27A1):c.1018-19C>T
NM_000784.4(CYP27A1):c.1018-4C>G
NM_000784.4(CYP27A1):c.1018-4C>T
NM_000784.4(CYP27A1):c.1018-8T>C rs1943753198
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) rs773208703
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=) rs776794344
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=) rs2105980889
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=) rs760334139
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=) rs1045010358
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=) rs2105980920
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
NM_000784.4(CYP27A1):c.1155G>A (p.Leu385=)
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=) rs1421364979
NM_000784.4(CYP27A1):c.1184+16G>A
NM_000784.4(CYP27A1):c.1184+16G>C rs1445661658
NM_000784.4(CYP27A1):c.1184+16G>T rs1445661658
NM_000784.4(CYP27A1):c.1184+20T>C
NM_000784.4(CYP27A1):c.1184+7C>G rs1575206765
NM_000784.4(CYP27A1):c.1184+7C>T rs1575206765
NM_000784.4(CYP27A1):c.1184+9G>A rs200457116
NM_000784.4(CYP27A1):c.1184+9G>C rs200457116
NM_000784.4(CYP27A1):c.1185-18A>G
NM_000784.4(CYP27A1):c.1185-19G>A
NM_000784.4(CYP27A1):c.1185-4G>A rs776459243
NM_000784.4(CYP27A1):c.1185-4G>T rs776459243
NM_000784.4(CYP27A1):c.1185-5T>C rs2105981044
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=) rs1271161678
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=) rs767002858
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=) rs2106479141
NM_000784.4(CYP27A1):c.1257C>A (p.Pro419=)
NM_000784.4(CYP27A1):c.1263+14G>C
NM_000784.4(CYP27A1):c.1263+16G>A
NM_000784.4(CYP27A1):c.1263+19C>T
NM_000784.4(CYP27A1):c.1263+21del
NM_000784.4(CYP27A1):c.1263+9G>A
NM_000784.4(CYP27A1):c.1264-5T>G
NM_000784.4(CYP27A1):c.1264-6T>C rs2105981164
NM_000784.4(CYP27A1):c.1264-7T>G
NM_000784.4(CYP27A1):c.1264-8C>T rs2105981161
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=) rs2105981167
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
NM_000784.4(CYP27A1):c.1284C>T (p.His428=) rs1653127444
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=) rs1943766681
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=) rs2105981217
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=) rs2105981221
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=) rs760024535
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=) rs527395716
NM_000784.4(CYP27A1):c.1368T>A (p.Ala456=)
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=) rs770435184
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=) rs1008075672
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
NM_000784.4(CYP27A1):c.1440G>A (p.Arg480=)
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=) rs2105981315
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
NM_000784.4(CYP27A1):c.1452G>C (p.Leu484=)
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) rs150585977
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=) rs1943770169
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=) rs1324313458
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=)
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
NM_000784.4(CYP27A1):c.1476+10G>A rs1358508044
NM_000784.4(CYP27A1):c.1476+14G>A
NM_000784.4(CYP27A1):c.1476+15G>C
NM_000784.4(CYP27A1):c.1476+17T>C
NM_000784.4(CYP27A1):c.1476+18A>G
NM_000784.4(CYP27A1):c.1476+20T>C rs1575207079
NM_000784.4(CYP27A1):c.1477-13C>G
NM_000784.4(CYP27A1):c.1477-13C>T
NM_000784.4(CYP27A1):c.1477-16G>T
NM_000784.4(CYP27A1):c.1477-19T>A
NM_000784.4(CYP27A1):c.1477-19T>C
NM_000784.4(CYP27A1):c.1477-20A>G
NM_000784.4(CYP27A1):c.1477-20A>T rs757019811
NM_000784.4(CYP27A1):c.1477-4C>A
NM_000784.4(CYP27A1):c.1477-4C>G
NM_000784.4(CYP27A1):c.1477-4C>T
NM_000784.4(CYP27A1):c.1477-5C>G
NM_000784.4(CYP27A1):c.1477-5C>T rs890298373
NM_000784.4(CYP27A1):c.1477-6C>A
NM_000784.4(CYP27A1):c.1477-6C>T rs1182127092
NM_000784.4(CYP27A1):c.1477-7C>A rs2105981410
NM_000784.4(CYP27A1):c.1477-7C>T
NM_000784.4(CYP27A1):c.1477-8C>A rs1461082000
NM_000784.4(CYP27A1):c.1477-9A>G rs2105981405
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
NM_000784.4(CYP27A1):c.1497G>C (p.Val499=)
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=) rs1943773164
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
NM_000784.4(CYP27A1):c.150C>T (p.Val50=) rs1408697261
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=) rs970661282
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) rs1575207204
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=) rs2105981481
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
NM_000784.4(CYP27A1):c.1581G>A (p.Leu527=)
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=) rs1481894464
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=) rs1943396825
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=) rs2106479159
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
NM_000784.4(CYP27A1):c.201C>T (p.Arg67=)
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=) rs1387640811
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=) rs1295302612
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
NM_000784.4(CYP27A1):c.24G>A (p.Arg8=)
NM_000784.4(CYP27A1):c.255+10G>A
NM_000784.4(CYP27A1):c.255+14G>A
NM_000784.4(CYP27A1):c.255+14G>T rs767761739
NM_000784.4(CYP27A1):c.255+15C>T
NM_000784.4(CYP27A1):c.255+20C>A rs1943402023
NM_000784.4(CYP27A1):c.255+7C>G
NM_000784.4(CYP27A1):c.255+7del
NM_000784.4(CYP27A1):c.256-10A>G rs2105978797
NM_000784.4(CYP27A1):c.256-16T>G
NM_000784.4(CYP27A1):c.256-17T>G
NM_000784.4(CYP27A1):c.256-20G>A
NM_000784.4(CYP27A1):c.256-5C>T rs768029983
NM_000784.4(CYP27A1):c.256-6C>T
NM_000784.4(CYP27A1):c.256-9A>C
NM_000784.4(CYP27A1):c.258G>A (p.Val86=) rs2105978806
NM_000784.4(CYP27A1):c.25C>T (p.Leu9=) rs2106479038
NM_000784.4(CYP27A1):c.279T>C (p.Gly93=) rs773872361
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=) rs2105978833
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.321C>T (p.Asn107=) rs755282568
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=) rs2105978849
NM_000784.4(CYP27A1):c.339C>G (p.Leu113=)
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=) rs919883150
NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
NM_000784.4(CYP27A1):c.369G>A (p.Lys123=) rs2105978882
NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) rs911534514
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=) rs1237307385
NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)
NM_000784.4(CYP27A1):c.39G>A (p.Leu13=) rs2106479059
NM_000784.4(CYP27A1):c.409C>A (p.Arg137=)
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=) rs1275203092
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=) rs1943692779
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
NM_000784.4(CYP27A1):c.435G>A (p.Gly145=)
NM_000784.4(CYP27A1):c.444C>T (p.Thr148=) rs2105978956
NM_000784.4(CYP27A1):c.446+10G>A rs200400166
NM_000784.4(CYP27A1):c.446+18G>A
NM_000784.4(CYP27A1):c.446+18G>C
NM_000784.4(CYP27A1):c.446+20_446+25del
NM_000784.4(CYP27A1):c.446+8G>A rs950113577
NM_000784.4(CYP27A1):c.446+9G>T
NM_000784.4(CYP27A1):c.447-12G>T
NM_000784.4(CYP27A1):c.447-13T>G
NM_000784.4(CYP27A1):c.447-15T>C
NM_000784.4(CYP27A1):c.447-4G>T rs2105979874
NM_000784.4(CYP27A1):c.447-8C>A
NM_000784.4(CYP27A1):c.447-8C>G
NM_000784.4(CYP27A1):c.447-9T>A
NM_000784.4(CYP27A1):c.447-9T>C
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=) rs749515902
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=) rs2105979882
NM_000784.4(CYP27A1):c.456C>T (p.His152=) rs1943723875
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=) rs553140875
NM_000784.4(CYP27A1):c.48C>A (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.492G>T (p.Arg164=) rs2105979919
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu) rs59443548
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=) rs200506778
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=) rs1238433654
NM_000784.4(CYP27A1):c.543G>T (p.Val181=) rs2105979971
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=) rs2105979989
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
NM_000784.4(CYP27A1):c.597G>A (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.606G>A (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.606G>T (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.621A>G (p.Gln207=)
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=) rs2105980041
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=) rs781222632
NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
NM_000784.4(CYP27A1):c.646+10C>T
NM_000784.4(CYP27A1):c.646+11T>C
NM_000784.4(CYP27A1):c.646+13G>T
NM_000784.4(CYP27A1):c.646+19G>A
NM_000784.4(CYP27A1):c.646+8T>C
NM_000784.4(CYP27A1):c.646+8del rs1943728243
NM_000784.4(CYP27A1):c.646+9G>C rs760140162
NM_000784.4(CYP27A1):c.647-10C>T
NM_000784.4(CYP27A1):c.647-16T>G
NM_000784.4(CYP27A1):c.647-17C>A
NM_000784.4(CYP27A1):c.647-17C>T rs774331706
NM_000784.4(CYP27A1):c.647-18C>A
NM_000784.4(CYP27A1):c.647-18C>T
NM_000784.4(CYP27A1):c.647-19G>A
NM_000784.4(CYP27A1):c.647-7T>C
NM_000784.4(CYP27A1):c.647-9A>G
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=) rs1414259537
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=) rs1400244740
NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=) rs2105980119
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=) rs1180200717
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
NM_000784.4(CYP27A1):c.6T>G (p.Ala2=)
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) rs1559392636
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=) rs2105980208
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=) rs1575206137
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=) rs2105980247
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=) rs532134925
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
NM_000784.4(CYP27A1):c.844+10C>T
NM_000784.4(CYP27A1):c.844+13A>T
NM_000784.4(CYP27A1):c.844+14G>C
NM_000784.4(CYP27A1):c.844+9T>G
NM_000784.4(CYP27A1):c.845-10G>A
NM_000784.4(CYP27A1):c.845-11T>C
NM_000784.4(CYP27A1):c.845-12T>C
NM_000784.4(CYP27A1):c.845-13G>A rs1398037639
NM_000784.4(CYP27A1):c.845-6T>C rs2105980379
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=) rs2105980390
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=) rs762359911
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=) rs202136743
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=) rs1310841339
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=) rs2105980427
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=) rs1316018823
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=) rs1943741154
NM_000784.4(CYP27A1):c.967C>A (p.Arg323=)
NM_000784.4(CYP27A1):c.969G>A (p.Arg323=)
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=) rs2105980465
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=) rs1400093675
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=) rs2105980473
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=) rs967210940
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=) rs971599666
NM_001020658.2(PUM1):c.1237C>T (p.His413Tyr)
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
NM_001044385.3(TMEM237):c.1037+14A>G
NM_001044385.3(TMEM237):c.1038-13T>C
NM_001044385.3(TMEM237):c.1038-16G>A
NM_001044385.3(TMEM237):c.1038-18G>C rs1462537932
NM_001044385.3(TMEM237):c.1038-19A>T
NM_001044385.3(TMEM237):c.1068G>A (p.Gln356=)
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
NM_001044385.3(TMEM237):c.1159+15A>C
NM_001044385.3(TMEM237):c.1159+16A>C
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
NM_001044385.3(TMEM237):c.136+19T>C rs2105903480
NM_001044385.3(TMEM237):c.136+20T>C
NM_001044385.3(TMEM237):c.137-14_137-13del
NM_001044385.3(TMEM237):c.137-17A>G
NM_001044385.3(TMEM237):c.137-19C>G rs369430368
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) rs2105902384
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=) rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) rs2105902357
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
NM_001044385.3(TMEM237):c.274+14C>G
NM_001044385.3(TMEM237):c.274+18G>C
NM_001044385.3(TMEM237):c.274+9A>G
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
NM_001044385.3(TMEM237):c.395+16T>C
NM_001044385.3(TMEM237):c.396-15A>G
NM_001044385.3(TMEM237):c.396-4A>G
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) rs1253365223
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) rs2105900286
NM_001044385.3(TMEM237):c.42+16C>G rs2105906044
NM_001044385.3(TMEM237):c.42+18C>T
NM_001044385.3(TMEM237):c.42+7G>T
NM_001044385.3(TMEM237):c.43-7G>A
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=) rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=) rs1433478535
NM_001044385.3(TMEM237):c.554-14T>C
NM_001044385.3(TMEM237):c.554-3dup rs778807445
NM_001044385.3(TMEM237):c.554-5C>T
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=) rs2105899171
NM_001044385.3(TMEM237):c.677+11T>C
NM_001044385.3(TMEM237):c.677+18A>G
NM_001044385.3(TMEM237):c.678-13C>A
NM_001044385.3(TMEM237):c.678-13C>T rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A
NM_001044385.3(TMEM237):c.678-6A>G
NM_001044385.3(TMEM237):c.69G>T (p.Val23=) rs2105904439
NM_001044385.3(TMEM237):c.747T>A (p.Val249=) rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A
NM_001044385.3(TMEM237):c.75-5G>A
NM_001044385.3(TMEM237):c.79+20A>T rs745908076
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.80-19G>A
NM_001044385.3(TMEM237):c.80-20C>T rs753443048
NM_001044385.3(TMEM237):c.80-7T>C
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) rs2105898943
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=) rs2105898925
NM_001044385.3(TMEM237):c.869+11T>C
NM_001044385.3(TMEM237):c.869+15T>C
NM_001044385.3(TMEM237):c.869+16C>T rs980158363
NM_001044385.3(TMEM237):c.869+19G>C
NM_001044385.3(TMEM237):c.869+8C>G
NM_001044385.3(TMEM237):c.870-12T>C
NM_001044385.3(TMEM237):c.870-4C>G
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) rs2105898446
NM_001044385.3(TMEM237):c.915C>T (p.Ala305=)
NM_001044385.3(TMEM237):c.943+15dup
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.140-29C>T
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
NM_001077418.3(TMEM231):c.213C>A (p.Ala71=)
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.309+13C>T
NM_001077418.3(TMEM231):c.309+7G>A
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.453C>A (p.Leu151=)
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.465C>T (p.Ser155=)
NM_001077418.3(TMEM231):c.477C>T (p.Leu159=)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.49G>A (p.Ala17Thr)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
NM_001077418.3(TMEM231):c.582+17T>G
NM_001077418.3(TMEM231):c.582+8C>T
NM_001077418.3(TMEM231):c.588C>T (p.Ser196=)
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
NM_001077418.3(TMEM231):c.633C>T (p.Thr211=)
NM_001077418.3(TMEM231):c.651C>T (p.Tyr217=)
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-13G>C
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.665-9G>T
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.750A>G (p.Arg250=)
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-18C>T
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
NM_001077418.3(TMEM231):c.924A>G (p.Gly308=)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031
NM_001077418.3(TMEM231):c.933T>C (p.Cys311=)
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser) rs199736888
NM_001134831.2(AHI1):c.406T>C (p.Leu136=) rs1299907778
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)
NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)
NM_001173990.3(TMEM216):c.201T>A (p.Leu67=)
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001195248.2(APTX):c.*851_*852del rs377365362
NM_001244189.2(KIAA0586):c.9+12G>C rs2140365548
NM_001244189.2(KIAA0586):c.9+16C>T
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=) rs148926588
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=) rs114187147
NM_001329943.3(KIAA0586):c.*20A>G
NM_001329943.3(KIAA0586):c.-1T>C
NM_001329943.3(KIAA0586):c.-31T>G
NM_001329943.3(KIAA0586):c.-33C>A
NM_001329943.3(KIAA0586):c.-33C>G rs1246692312
NM_001329943.3(KIAA0586):c.-36G>A rs781284563
NM_001329943.3(KIAA0586):c.-37C>G
NM_001329943.3(KIAA0586):c.-47A>G
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
NM_001329943.3(KIAA0586):c.1032C>G (p.Arg344=)
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
NM_001329943.3(KIAA0586):c.1129+16A>C rs1263079347
NM_001329943.3(KIAA0586):c.1129+20G>C
NM_001329943.3(KIAA0586):c.1130-12C>T
NM_001329943.3(KIAA0586):c.1130-16A>G
NM_001329943.3(KIAA0586):c.1130-18A>G
NM_001329943.3(KIAA0586):c.1130-20C>A
NM_001329943.3(KIAA0586):c.1130-20C>G
NM_001329943.3(KIAA0586):c.1130-7A>G rs1656520928
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=) rs2039565444
NM_001329943.3(KIAA0586):c.1253+12A>T
NM_001329943.3(KIAA0586):c.1253+17G>A
NM_001329943.3(KIAA0586):c.1253+19A>C
NM_001329943.3(KIAA0586):c.1254-12A>G
NM_001329943.3(KIAA0586):c.1254-19A>T rs2140825179
NM_001329943.3(KIAA0586):c.1254-5C>A
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
NM_001329943.3(KIAA0586):c.1362+10G>T
NM_001329943.3(KIAA0586):c.1362+17C>T
NM_001329943.3(KIAA0586):c.1363-11T>C rs2140842996
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=) rs2140843741
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
NM_001329943.3(KIAA0586):c.1583+17A>G
NM_001329943.3(KIAA0586):c.1583+7G>A rs1333490071
NM_001329943.3(KIAA0586):c.1584-14T>C rs2140853060
NM_001329943.3(KIAA0586):c.1584-18C>A
NM_001329943.3(KIAA0586):c.1584-7T>C
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) rs776054856
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
NM_001329943.3(KIAA0586):c.1656+12A>G
NM_001329943.3(KIAA0586):c.1656+17A>T
NM_001329943.3(KIAA0586):c.1656+19C>A
NM_001329943.3(KIAA0586):c.1657-13T>C
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
NM_001329943.3(KIAA0586):c.1752C>T (p.Thr584=)
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
NM_001329943.3(KIAA0586):c.1884+15T>C rs1313237040
NM_001329943.3(KIAA0586):c.1885-12T>G
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
NM_001329943.3(KIAA0586):c.1885-15A>T
NM_001329943.3(KIAA0586):c.1885-5C>T rs752142962
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=) rs376649351
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=) rs1477846398
NM_001329943.3(KIAA0586):c.1950A>G (p.Pro650=)
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
NM_001329943.3(KIAA0586):c.199+13A>C rs769176872
NM_001329943.3(KIAA0586):c.199+13A>G
NM_001329943.3(KIAA0586):c.199+15G>A
NM_001329943.3(KIAA0586):c.200-5G>A
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=) rs2140887489
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=) rs190081177
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
NM_001329943.3(KIAA0586):c.2059+20A>G
NM_001329943.3(KIAA0586):c.2060-16T>C
NM_001329943.3(KIAA0586):c.2060-19C>T
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
NM_001329943.3(KIAA0586):c.2085A>G (p.Thr695=)
NM_001329943.3(KIAA0586):c.2136A>G (p.Lys712=)
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
NM_001329943.3(KIAA0586):c.2178G>A (p.Leu726=)
NM_001329943.3(KIAA0586):c.2254+17T>C rs2140941167
NM_001329943.3(KIAA0586):c.2254+20G>T
NM_001329943.3(KIAA0586):c.2255-14C>T
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
NM_001329943.3(KIAA0586):c.22T>C (p.Leu8=)
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
NM_001329943.3(KIAA0586):c.2319T>G (p.Pro773=)
NM_001329943.3(KIAA0586):c.2334T>C (p.Thr778=)
NM_001329943.3(KIAA0586):c.2343T>C (p.Pro781=) rs543436879
NM_001329943.3(KIAA0586):c.237G>A (p.Gln79=)
NM_001329943.3(KIAA0586):c.243A>G (p.Leu81=)
NM_001329943.3(KIAA0586):c.2442+11del rs753806115
NM_001329943.3(KIAA0586):c.2442+15A>C
NM_001329943.3(KIAA0586):c.2442+16T>C
NM_001329943.3(KIAA0586):c.2442+17G>T
NM_001329943.3(KIAA0586):c.2442+9G>A rs1490718693
NM_001329943.3(KIAA0586):c.2443-14G>A
NM_001329943.3(KIAA0586):c.2443-18T>C
NM_001329943.3(KIAA0586):c.2443-19A>G
NM_001329943.3(KIAA0586):c.2443-4T>C rs911579183
NM_001329943.3(KIAA0586):c.2443-7G>C
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
NM_001329943.3(KIAA0586):c.246A>G (p.Leu82=)
NM_001329943.3(KIAA0586):c.2478T>C (p.Asn826=)
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=) rs761492303
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=) rs751246498
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
NM_001329943.3(KIAA0586):c.2553+20C>A
NM_001329943.3(KIAA0586):c.2553+8T>G
NM_001329943.3(KIAA0586):c.2554-4T>G
NM_001329943.3(KIAA0586):c.2554-9C>A
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
NM_001329943.3(KIAA0586):c.2622C>T (p.Ile874=)
NM_001329943.3(KIAA0586):c.2634+12T>C rs766964981
NM_001329943.3(KIAA0586):c.2634+7A>G
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=) rs2037178345
NM_001329943.3(KIAA0586):c.2661A>G (p.Pro887=)
NM_001329943.3(KIAA0586):c.270+12G>T
NM_001329943.3(KIAA0586):c.2709T>C (p.Ser903=)
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
NM_001329943.3(KIAA0586):c.2811T>C (p.Asn937=)
NM_001329943.3(KIAA0586):c.2825+13T>A
NM_001329943.3(KIAA0586):c.2825+15T>G
NM_001329943.3(KIAA0586):c.2826-10A>G
NM_001329943.3(KIAA0586):c.2826-11C>T
NM_001329943.3(KIAA0586):c.2826-12C>T
NM_001329943.3(KIAA0586):c.2826-13A>C
NM_001329943.3(KIAA0586):c.2826-18G>T
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=) rs1187492772
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
NM_001329943.3(KIAA0586):c.2944+13G>A
NM_001329943.3(KIAA0586):c.2944+16T>A
NM_001329943.3(KIAA0586):c.2944+17T>G
NM_001329943.3(KIAA0586):c.2944+19T>A
NM_001329943.3(KIAA0586):c.2944+9A>G
NM_001329943.3(KIAA0586):c.2945-4T>C
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=) rs1284387922
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
NM_001329943.3(KIAA0586):c.3144+20C>G
NM_001329943.3(KIAA0586):c.3144+20C>T
NM_001329943.3(KIAA0586):c.3144+7G>A
NM_001329943.3(KIAA0586):c.3145-12T>C
NM_001329943.3(KIAA0586):c.3145-13T>G
NM_001329943.3(KIAA0586):c.3145-16G>A
NM_001329943.3(KIAA0586):c.3145-8T>C
NM_001329943.3(KIAA0586):c.3204A>C (p.Ser1068=)
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=) rs528416301
NM_001329943.3(KIAA0586):c.3258G>A (p.Ser1086=)
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG rs2141183723
NM_001329943.3(KIAA0586):c.3305-17T>A
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
NM_001329943.3(KIAA0586):c.3306A>C (p.Gly1102=)
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
NM_001329943.3(KIAA0586):c.333G>A (p.Lys111=)
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=) rs2141193804
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=) rs2140373069
NM_001329943.3(KIAA0586):c.340+11A>G
NM_001329943.3(KIAA0586):c.340+13T>G
NM_001329943.3(KIAA0586):c.340+14A>G
NM_001329943.3(KIAA0586):c.341-13C>G
NM_001329943.3(KIAA0586):c.341-17G>C
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
NM_001329943.3(KIAA0586):c.3453A>G (p.Pro1151=)
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=) rs759687892
NM_001329943.3(KIAA0586):c.3527+17T>C
NM_001329943.3(KIAA0586):c.3528-15T>G rs752835695
NM_001329943.3(KIAA0586):c.3528-16G>A
NM_001329943.3(KIAA0586):c.3549T>C (p.Asp1183=) rs1250115519
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=) rs367676896
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=) rs2141202944
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=) rs368352741
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=) rs1489789614
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
NM_001329943.3(KIAA0586):c.3693T>C (p.Ser1231=)
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=) rs372215354
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
NM_001329943.3(KIAA0586):c.3781+18A>G
NM_001329943.3(KIAA0586):c.3782-18T>A
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
NM_001329943.3(KIAA0586):c.3858+16C>T
NM_001329943.3(KIAA0586):c.3858+7A>G rs771949597
NM_001329943.3(KIAA0586):c.3858+9C>T
NM_001329943.3(KIAA0586):c.3859-13A>G
NM_001329943.3(KIAA0586):c.3859-16T>A
NM_001329943.3(KIAA0586):c.3859-19G>C
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) rs779179754
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
NM_001329943.3(KIAA0586):c.3954G>A (p.Glu1318=)
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=) rs757393939
NM_001329943.3(KIAA0586):c.3990+19G>A
NM_001329943.3(KIAA0586):c.3991-12T>C
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
NM_001329943.3(KIAA0586):c.410+15C>T
NM_001329943.3(KIAA0586):c.411-12T>G
NM_001329943.3(KIAA0586):c.411-1347C>T
NM_001329943.3(KIAA0586):c.411-1348dup
NM_001329943.3(KIAA0586):c.411-1349C>T
NM_001329943.3(KIAA0586):c.411-1355C>T
NM_001329943.3(KIAA0586):c.411-1380G>A
NM_001329943.3(KIAA0586):c.411-1490G>T
NM_001329943.3(KIAA0586):c.411-1491G>T rs2140520688
NM_001329943.3(KIAA0586):c.411-1494C>A
NM_001329943.3(KIAA0586):c.411-1503T>C
NM_001329943.3(KIAA0586):c.411-15dup
NM_001329943.3(KIAA0586):c.411-16G>A
NM_001329943.3(KIAA0586):c.411-4A>G
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
NM_001329943.3(KIAA0586):c.4149G>T (p.Arg1383=)
NM_001329943.3(KIAA0586):c.4168+13A>G rs375052904
NM_001329943.3(KIAA0586):c.4168+8C>A rs1331278032
NM_001329943.3(KIAA0586):c.4188A>G (p.Ser1396=)
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=) rs369935221
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4323+12A>G
NM_001329943.3(KIAA0586):c.4324-11A>T
NM_001329943.3(KIAA0586):c.4324-16A>G rs376320678
NM_001329943.3(KIAA0586):c.4324-6A>G
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=) rs2141479527
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=) rs2141479570
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
NM_001329943.3(KIAA0586):c.4429+11T>A
NM_001329943.3(KIAA0586):c.4429+16A>G
NM_001329943.3(KIAA0586):c.4429+16dup
NM_001329943.3(KIAA0586):c.4429+17T>C
NM_001329943.3(KIAA0586):c.4429+24_4429+26del
NM_001329943.3(KIAA0586):c.4430-15T>A rs1212572767
NM_001329943.3(KIAA0586):c.4430-15T>C
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=) rs780867053
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
NM_001329943.3(KIAA0586):c.4495+12A>G rs2140098467
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
NM_001329943.3(KIAA0586):c.4495+3729T>C
NM_001329943.3(KIAA0586):c.4495+3730T>G
NM_001329943.3(KIAA0586):c.4495+3732T>A
NM_001329943.3(KIAA0586):c.4495+3737T>G
NM_001329943.3(KIAA0586):c.4495+3793G>A
NM_001329943.3(KIAA0586):c.4495+3796G>T
NM_001329943.3(KIAA0586):c.4495+7T>C
NM_001329943.3(KIAA0586):c.4496-17G>A
NM_001329943.3(KIAA0586):c.4496-3794A>G
NM_001329943.3(KIAA0586):c.4496-3798C>T
NM_001329943.3(KIAA0586):c.4496-3799A>G
NM_001329943.3(KIAA0586):c.4496-3803T>G
NM_001329943.3(KIAA0586):c.4496-3807A>G
NM_001329943.3(KIAA0586):c.4496-3816C>T
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val) rs2140156164
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn) rs2047081237
NM_001329943.3(KIAA0586):c.4607T>C (p.Met1536Thr)
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
NM_001329943.3(KIAA0586):c.4643T>G (p.Phe1548Cys)
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
NM_001329943.3(KIAA0586):c.528T>C (p.Ala176=)
NM_001329943.3(KIAA0586):c.537G>C (p.Val179=)
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
NM_001329943.3(KIAA0586):c.585+17_585+29del
NM_001329943.3(KIAA0586):c.586-16G>T
NM_001329943.3(KIAA0586):c.586-17T>C
NM_001329943.3(KIAA0586):c.586-4T>G
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
NM_001329943.3(KIAA0586):c.729C>T (p.His243=) rs774888789
NM_001329943.3(KIAA0586):c.735G>A (p.Lys245=)
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu) rs577258273
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=) rs1487078229
NM_001329943.3(KIAA0586):c.807+10A>C rs368833496
NM_001329943.3(KIAA0586):c.807+12A>G
NM_001329943.3(KIAA0586):c.807+15T>A
NM_001329943.3(KIAA0586):c.807+19G>C
NM_001329943.3(KIAA0586):c.807+8del rs2140568510
NM_001329943.3(KIAA0586):c.807+9A>G rs2140568561
NM_001329943.3(KIAA0586):c.808-13T>G rs1364907790
NM_001329943.3(KIAA0586):c.808-20A>C
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=) rs2140662420
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
NM_001329943.3(KIAA0586):c.954C>A (p.Ser318=)
NM_001329943.3(KIAA0586):c.961+11G>T
NM_001329943.3(KIAA0586):c.962-14A>C rs200528557
NM_001329943.3(KIAA0586):c.962-19A>T
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
NM_001347702.2(SYNE1):c.1452C>A (p.Ile484=)
NM_001372574.1(ATXN2):c.289-11del rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001378452.1(ITPR1):c.*356TG[1] rs113825412
NM_001378452.1(ITPR1):c.*814_*817dup rs148070806
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.1606C>T (p.Leu536Phe) rs1553681680
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.4992-7del rs546612625
NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp) rs1553706329
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=) rs1216276887
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) rs369361457
NM_001378969.1(KCND3):c.1041G>T (p.Ser347=)
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=)
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=)
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=)
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=) rs1467256846
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=)
NM_001378969.1(KCND3):c.1106+11G>A
NM_001378969.1(KCND3):c.1106+11G>T rs1437557964
NM_001378969.1(KCND3):c.1107-12T>C
NM_001378969.1(KCND3):c.1107-21_1107-20del
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=)
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=)
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=) rs1571636426
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=) rs533201615
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=)
NM_001378969.1(KCND3):c.1197C>T (p.Val399=)
NM_001378969.1(KCND3):c.1269+14G>A rs369047161
NM_001378969.1(KCND3):c.1270-18T>C
NM_001378969.1(KCND3):c.1270-20dup
NM_001378969.1(KCND3):c.1270-6T>C rs1195309269
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=)
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=)
NM_001378969.1(KCND3):c.1329C>T (p.His443=)
NM_001378969.1(KCND3):c.1371+19T>G
NM_001378969.1(KCND3):c.1371+8C>T
NM_001378969.1(KCND3):c.1372-14T>C
NM_001378969.1(KCND3):c.1372-17T>C
NM_001378969.1(KCND3):c.1372-4C>T
NM_001378969.1(KCND3):c.1372-6T>G
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=)
NM_001378969.1(KCND3):c.1413C>T (p.Leu471=)
NM_001378969.1(KCND3):c.1419G>A (p.Glu473=)
NM_001378969.1(KCND3):c.1434C>T (p.His478=)
NM_001378969.1(KCND3):c.1447C>T (p.Leu483=)
NM_001378969.1(KCND3):c.1461+13C>T
NM_001378969.1(KCND3):c.1461+7C>A
NM_001378969.1(KCND3):c.1461+9C>T
NM_001378969.1(KCND3):c.1462-10T>G rs2101462550
NM_001378969.1(KCND3):c.1462-16G>T
NM_001378969.1(KCND3):c.1462-4G>A
NM_001378969.1(KCND3):c.1464G>T (p.Gly488=)
NM_001378969.1(KCND3):c.1515C>T (p.Ile505=)
NM_001378969.1(KCND3):c.1518+17A>C
NM_001378969.1(KCND3):c.1519-10C>T rs1664168851
NM_001378969.1(KCND3):c.1519-17_1519-15del
NM_001378969.1(KCND3):c.1519-20_1519-18del rs775978779
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)
NM_001378969.1(KCND3):c.159C>G (p.Thr53=)
NM_001378969.1(KCND3):c.159C>T (p.Thr53=)
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val) rs778053688
NM_001378969.1(KCND3):c.1767-17A>C
NM_001378969.1(KCND3):c.1767-4C>G
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)
NM_001378969.1(KCND3):c.1821A>G (p.Thr607=)
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)
NM_001378969.1(KCND3):c.186G>C (p.Pro62=)
NM_001378969.1(KCND3):c.18G>A (p.Ala6=)
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
NM_001378969.1(KCND3):c.1950C>A (p.Val650=)
NM_001378969.1(KCND3):c.252C>T (p.Phe84=)
NM_001378969.1(KCND3):c.300G>A (p.Thr100=)
NM_001378969.1(KCND3):c.36C>T (p.Ala12=) rs2102000445
NM_001378969.1(KCND3):c.447C>T (p.Asp149=) rs1553187519
NM_001378969.1(KCND3):c.486G>A (p.Ser162=)
NM_001378969.1(KCND3):c.492C>T (p.Ser164=) rs1170371506
NM_001378969.1(KCND3):c.522G>A (p.Glu174=) rs2101997545
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=)
NM_001378969.1(KCND3):c.600C>T (p.Asn200=) rs1674984825
NM_001378969.1(KCND3):c.633G>A (p.Pro211=) rs35131566
NM_001378969.1(KCND3):c.63G>C (p.Pro21=) rs923682288
NM_001378969.1(KCND3):c.660G>A (p.Glu220=) rs2101996879
NM_001378969.1(KCND3):c.663C>T (p.Arg221=)
NM_001378969.1(KCND3):c.693G>A (p.Thr231=)
NM_001378969.1(KCND3):c.714C>A (p.Thr238=)
NM_001378969.1(KCND3):c.735C>T (p.Leu245=)
NM_001378969.1(KCND3):c.816C>T (p.Ile272=)
NM_001378969.1(KCND3):c.84C>T (p.Pro28=)
NM_001378969.1(KCND3):c.87G>A (p.Leu29=)
NM_001378969.1(KCND3):c.930G>A (p.Leu310=) rs577883061
NM_001378969.1(KCND3):c.936C>T (p.Tyr312=)
NM_001378969.1(KCND3):c.957C>T (p.Ser319=) rs61733426
NM_001378969.1(KCND3):c.969T>C (p.Phe323=) rs757012715
NM_001379286.1(ZNF423):c.100+14G>A
NM_001379286.1(ZNF423):c.100+18G>A
NM_001379286.1(ZNF423):c.101-11C>G
NM_001379286.1(ZNF423):c.101-4G>T rs2143391783
NM_001379286.1(ZNF423):c.1020C>T (p.Phe340=)
NM_001379286.1(ZNF423):c.1041C>T (p.Tyr347=) rs2151886352
NM_001379286.1(ZNF423):c.1044C>T (p.Cys348=)
NM_001379286.1(ZNF423):c.1068C>G (p.Pro356=) rs765544201
NM_001379286.1(ZNF423):c.1083C>T (p.His361=) rs201095265
NM_001379286.1(ZNF423):c.1095C>T (p.Pro365=) rs766653789
NM_001379286.1(ZNF423):c.1098C>T (p.Asp366=)
NM_001379286.1(ZNF423):c.1101T>C (p.Pro367=)
NM_001379286.1(ZNF423):c.1107G>T (p.Leu369=) rs1052587825
NM_001379286.1(ZNF423):c.1137A>T (p.Thr379=)
NM_001379286.1(ZNF423):c.1152C>T (p.Ala384=)
NM_001379286.1(ZNF423):c.1158G>A (p.Val386=) rs2151886051
NM_001379286.1(ZNF423):c.1167C>T (p.Gly389=)
NM_001379286.1(ZNF423):c.1173C>T (p.Thr391=)
NM_001379286.1(ZNF423):c.1176G>C (p.Pro392=) rs748728165
NM_001379286.1(ZNF423):c.1194G>C (p.Pro398=)
NM_001379286.1(ZNF423):c.1194G>T (p.Pro398=) rs61747467
NM_001379286.1(ZNF423):c.1197G>T (p.Leu399=)
NM_001379286.1(ZNF423):c.1198C>A (p.Arg400=)
NM_001379286.1(ZNF423):c.1203G>A (p.Gly401=)
NM_001379286.1(ZNF423):c.1216C>A (p.Arg406=)
NM_001379286.1(ZNF423):c.1273C>A (p.Arg425=)
NM_001379286.1(ZNF423):c.1281T>C (p.Phe427=)
NM_001379286.1(ZNF423):c.1293C>T (p.Ala431=)
NM_001379286.1(ZNF423):c.1297C>T (p.Leu433=)
NM_001379286.1(ZNF423):c.1299G>A (p.Leu433=)
NM_001379286.1(ZNF423):c.1305C>T (p.Ile435=)
NM_001379286.1(ZNF423):c.1329C>T (p.Asp443=)
NM_001379286.1(ZNF423):c.1347C>T (p.His449=)
NM_001379286.1(ZNF423):c.1380C>T (p.Thr460=)
NM_001379286.1(ZNF423):c.1389C>T (p.Asn463=) rs777102272
NM_001379286.1(ZNF423):c.1395C>T (p.Asn465=)
NM_001379286.1(ZNF423):c.1410G>A (p.Lys470=)
NM_001379286.1(ZNF423):c.1422C>T (p.Asn474=) rs958714253
NM_001379286.1(ZNF423):c.1473C>T (p.Asn491=)
NM_001379286.1(ZNF423):c.147G>C (p.Ala49=) rs566780634
NM_001379286.1(ZNF423):c.147G>T (p.Ala49=)
NM_001379286.1(ZNF423):c.1509G>C (p.Leu503=)
NM_001379286.1(ZNF423):c.150G>A (p.Leu50=) rs2143390837
NM_001379286.1(ZNF423):c.1533C>T (p.His511=)
NM_001379286.1(ZNF423):c.1539C>G (p.Gly513=) rs2151885151
NM_001379286.1(ZNF423):c.1545C>T (p.Asn515=)
NM_001379286.1(ZNF423):c.1554C>A (p.Pro518=)
NM_001379286.1(ZNF423):c.1575C>T (p.Phe525=)
NM_001379286.1(ZNF423):c.165C>T (p.Ser55=)
NM_001379286.1(ZNF423):c.1668A>G (p.Leu556=) rs1596762843
NM_001379286.1(ZNF423):c.1716C>T (p.Ser572=) rs1254281045
NM_001379286.1(ZNF423):c.1728C>T (p.Cys576=) rs1555515498
NM_001379286.1(ZNF423):c.1749C>T (p.Gly583=)
NM_001379286.1(ZNF423):c.1755C>T (p.Ile585=)
NM_001379286.1(ZNF423):c.1776C>A (p.Ile592=)
NM_001379286.1(ZNF423):c.177A>G (p.Gln59=)
NM_001379286.1(ZNF423):c.1794C>T (p.Asn598=)
NM_001379286.1(ZNF423):c.1833G>A (p.Gln611=)
NM_001379286.1(ZNF423):c.1842C>G (p.Val614=)
NM_001379286.1(ZNF423):c.1842C>T (p.Val614=) rs138341971
NM_001379286.1(ZNF423):c.1854G>A (p.Val618=)
NM_001379286.1(ZNF423):c.1860G>T (p.Val620=)
NM_001379286.1(ZNF423):c.1875G>A (p.Arg625=) rs989234689
NM_001379286.1(ZNF423):c.1884C>T (p.Leu628=)
NM_001379286.1(ZNF423):c.1908C>T (p.Ser636=)
NM_001379286.1(ZNF423):c.1983G>A (p.Leu661=) rs147999567
NM_001379286.1(ZNF423):c.1983G>C (p.Leu661=)
NM_001379286.1(ZNF423):c.2007G>A (p.Lys669=) rs2151884168
NM_001379286.1(ZNF423):c.2013G>T (p.Ala671=) rs143468235
NM_001379286.1(ZNF423):c.2022G>A (p.Gln674=) rs755306842
NM_001379286.1(ZNF423):c.2088G>A (p.Thr696=)
NM_001379286.1(ZNF423):c.2091G>A (p.Ser697=) rs1405918155
NM_001379286.1(ZNF423):c.2091G>C (p.Ser697=) rs1405918155
NM_001379286.1(ZNF423):c.2172C>A (p.Thr724=)
NM_001379286.1(ZNF423):c.2194C>T (p.Leu732=)
NM_001379286.1(ZNF423):c.2208C>A (p.Val736=) rs894972829
NM_001379286.1(ZNF423):c.2223G>A (p.Val741=) rs1450519928
NM_001379286.1(ZNF423):c.2277C>T (p.Arg759=)
NM_001379286.1(ZNF423):c.2343C>T (p.His781=) rs1427746481
NM_001379286.1(ZNF423):c.2352C>T (p.Asn784=)
NM_001379286.1(ZNF423):c.2355G>A (p.Pro785=) rs747133481
NM_001379286.1(ZNF423):c.237C>T (p.His79=) rs2143389347
NM_001379286.1(ZNF423):c.2391C>T (p.Thr797=) rs2151883293
NM_001379286.1(ZNF423):c.2397C>T (p.Ser799=) rs1972737338
NM_001379286.1(ZNF423):c.2421C>T (p.His807=) rs1292747676
NM_001379286.1(ZNF423):c.2439G>A (p.Lys813=)
NM_001379286.1(ZNF423):c.2503C>A (p.Arg835=)
NM_001379286.1(ZNF423):c.2529T>C (p.Ala843=)
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
NM_001379286.1(ZNF423):c.2535C>A (p.Thr845=) rs77996576
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576
NM_001379286.1(ZNF423):c.2547G>A (p.Thr849=)
NM_001379286.1(ZNF423):c.2547G>C (p.Thr849=)
NM_001379286.1(ZNF423):c.2556G>T (p.Gly852=)
NM_001379286.1(ZNF423):c.2595C>T (p.Asp865=)
NM_001379286.1(ZNF423):c.2604C>T (p.Gly868=)
NM_001379286.1(ZNF423):c.2643G>A (p.Glu881=)
NM_001379286.1(ZNF423):c.2673G>A (p.Glu891=) rs761948812
NM_001379286.1(ZNF423):c.2682C>T (p.Tyr894=)
NM_001379286.1(ZNF423):c.2709C>T (p.Tyr903=) rs2151882457
NM_001379286.1(ZNF423):c.2739G>T (p.Arg913=) rs1272244156
NM_001379286.1(ZNF423):c.2754T>C (p.Asn918=)
NM_001379286.1(ZNF423):c.2766C>T (p.Gly922=)
NM_001379286.1(ZNF423):c.2769G>A (p.Glu923=) rs369901240
NM_001379286.1(ZNF423):c.2772T>C (p.Asp924=)
NM_001379286.1(ZNF423):c.2781A>G (p.Ser927=) rs1555514937
NM_001379286.1(ZNF423):c.2847G>T (p.Ser949=)
NM_001379286.1(ZNF423):c.2871G>A (p.Leu957=) rs1314213322
NM_001379286.1(ZNF423):c.2877G>C (p.Thr959=) rs201950383
NM_001379286.1(ZNF423):c.2880C>T (p.His960=) rs148363876
NM_001379286.1(ZNF423):c.2934G>T (p.Ser978=)
NM_001379286.1(ZNF423):c.2949C>G (p.Thr983=)
NM_001379286.1(ZNF423):c.2961G>A (p.Val987=) rs1972695299
NM_001379286.1(ZNF423):c.2973G>A (p.Lys991=)
NM_001379286.1(ZNF423):c.2985G>A (p.Thr995=) rs747416859
NM_001379286.1(ZNF423):c.2991C>T (p.Thr997=)
NM_001379286.1(ZNF423):c.3003C>T (p.Cys1001=) rs1159984493
NM_001379286.1(ZNF423):c.301+8A>C
NM_001379286.1(ZNF423):c.301+9A>G rs2143387957
NM_001379286.1(ZNF423):c.302-13C>G
NM_001379286.1(ZNF423):c.302-20CT[2]
NM_001379286.1(ZNF423):c.302-5T>G rs1972866463
NM_001379286.1(ZNF423):c.3108A>G (p.Thr1036=)
NM_001379286.1(ZNF423):c.3141C>T (p.Gly1047=)
NM_001379286.1(ZNF423):c.3168C>T (p.Gly1056=) rs988297156
NM_001379286.1(ZNF423):c.3183C>T (p.Ser1061=)
NM_001379286.1(ZNF423):c.3189C>T (p.Pro1063=) rs2151881362
NM_001379286.1(ZNF423):c.3228G>A (p.Leu1076=)
NM_001379286.1(ZNF423):c.3240G>A (p.Glu1080=)
NM_001379286.1(ZNF423):c.3259C>T (p.Leu1087=)
NM_001379286.1(ZNF423):c.3270T>G (p.Leu1090=) rs1047769345
NM_001379286.1(ZNF423):c.3273C>T (p.Asp1091=)
NM_001379286.1(ZNF423):c.327C>G (p.Ser109=) rs1301443945
NM_001379286.1(ZNF423):c.3315C>T (p.Ala1105=)
NM_001379286.1(ZNF423):c.3330A>G (p.Gly1110=)
NM_001379286.1(ZNF423):c.3354C>G (p.Pro1118=)
NM_001379286.1(ZNF423):c.3384C>A (p.Leu1128=)
NM_001379286.1(ZNF423):c.3390C>T (p.Cys1130=)
NM_001379286.1(ZNF423):c.3396G>A (p.Glu1132=)
NM_001379286.1(ZNF423):c.3402T>C (p.Ser1134=)
NM_001379286.1(ZNF423):c.3408G>A (p.Lys1136=)
NM_001379286.1(ZNF423):c.3420C>G (p.Ala1140=) rs138555234
NM_001379286.1(ZNF423):c.3465G>A (p.Thr1155=)
NM_001379286.1(ZNF423):c.3465G>T (p.Thr1155=) rs370113263
NM_001379286.1(ZNF423):c.3495C>A (p.Thr1165=)
NM_001379286.1(ZNF423):c.3513C>A (p.Pro1171=)
NM_001379286.1(ZNF423):c.3516+20T>C
NM_001379286.1(ZNF423):c.3516+9A>G rs1235224105
NM_001379286.1(ZNF423):c.3517-19A>G
NM_001379286.1(ZNF423):c.3517-9T>C rs2151865195
NM_001379286.1(ZNF423):c.3555C>T (p.Phe1185=)
NM_001379286.1(ZNF423):c.3601+10C>T
NM_001379286.1(ZNF423):c.3601+4AG[2]
NM_001379286.1(ZNF423):c.3601+7G>C rs2151865024
NM_001379286.1(ZNF423):c.3601+8A>G
NM_001379286.1(ZNF423):c.3602-18C>A
NM_001379286.1(ZNF423):c.3602-32_3602-13dup
NM_001379286.1(ZNF423):c.3602-5T>C rs2151709010
NM_001379286.1(ZNF423):c.3621G>A (p.Glu1207=) rs1331148614
NM_001379286.1(ZNF423):c.3628C>T (p.Leu1210=)
NM_001379286.1(ZNF423):c.3645C>T (p.Phe1215=)
NM_001379286.1(ZNF423):c.3657C>G (p.Ala1219=)
NM_001379286.1(ZNF423):c.3657C>T (p.Ala1219=)
NM_001379286.1(ZNF423):c.372G>T (p.Thr124=) rs374791815
NM_001379286.1(ZNF423):c.3733+18T>G
NM_001379286.1(ZNF423):c.3734-14G>A
NM_001379286.1(ZNF423):c.3734-19C>A
NM_001379286.1(ZNF423):c.3756G>A (p.Leu1252=) rs762410542
NM_001379286.1(ZNF423):c.375G>A (p.Gln125=)
NM_001379286.1(ZNF423):c.3816C>T (p.Cys1272=) rs1555503854
NM_001379286.1(ZNF423):c.3849+12C>T rs1968490152
NM_001379286.1(ZNF423):c.3849+16C>T
NM_001379286.1(ZNF423):c.3849+16del rs1968489668
NM_001379286.1(ZNF423):c.3849+19T>C rs2151705717
NM_001379286.1(ZNF423):c.3850-10G>A
NM_001379286.1(ZNF423):c.3850-11C>T
NM_001379286.1(ZNF423):c.3850-8C>T rs2151640507
NM_001379286.1(ZNF423):c.3852C>T (p.Asn1284=)
NM_001379286.1(ZNF423):c.3870C>T (p.His1290=)
NM_001379286.1(ZNF423):c.40+33072A>G
NM_001379286.1(ZNF423):c.40+33079G>T
NM_001379286.1(ZNF423):c.40+33080C>G
NM_001379286.1(ZNF423):c.408C>G (p.Gly136=)
NM_001379286.1(ZNF423):c.41-14G>A
NM_001379286.1(ZNF423):c.41-18C>T
NM_001379286.1(ZNF423):c.41-4dup rs1239625311
NM_001379286.1(ZNF423):c.432G>A (p.Leu144=)
NM_001379286.1(ZNF423):c.432G>T (p.Leu144=)
NM_001379286.1(ZNF423):c.435A>G (p.Pro145=) rs1372138039
NM_001379286.1(ZNF423):c.48G>A (p.Glu16=)
NM_001379286.1(ZNF423):c.546C>T (p.Leu182=)
NM_001379286.1(ZNF423):c.555C>T (p.His185=) rs1972852607
NM_001379286.1(ZNF423):c.573G>T (p.Arg191=) rs1972850800
NM_001379286.1(ZNF423):c.57C>G (p.Ala19=)
NM_001379286.1(ZNF423):c.588T>C (p.His196=)
NM_001379286.1(ZNF423):c.594C>T (p.Gly198=)
NM_001379286.1(ZNF423):c.603G>A (p.Lys201=)
NM_001379286.1(ZNF423):c.618G>A (p.Glu206=) rs1555516039
NM_001379286.1(ZNF423):c.621C>T (p.Cys207=) rs1379569101
NM_001379286.1(ZNF423):c.630C>G (p.Ala210=) rs186529267
NM_001379286.1(ZNF423):c.66C>T (p.Phe22=)
NM_001379286.1(ZNF423):c.69G>A (p.Ser23=) rs375314927
NM_001379286.1(ZNF423):c.702G>A (p.Val234=)
NM_001379286.1(ZNF423):c.735G>A (p.Leu245=)
NM_001379286.1(ZNF423):c.738G>A (p.Gln246=)
NM_001379286.1(ZNF423):c.741C>T (p.Ser247=)
NM_001379286.1(ZNF423):c.798C>T (p.Ala266=)
NM_001379286.1(ZNF423):c.849G>T (p.Thr283=) rs752433519
NM_001379286.1(ZNF423):c.867C>T (p.His289=)
NM_001379286.1(ZNF423):c.921C>T (p.His307=)
NM_001379286.1(ZNF423):c.924C>T (p.Cys308=)
NM_001379286.1(ZNF423):c.933C>T (p.Val311=)
NM_001379286.1(ZNF423):c.948C>T (p.Asn316=) rs2151886566
NM_001379286.1(ZNF423):c.963T>C (p.His321=) rs776865345
NM_001379286.1(ZNF423):c.984C>T (p.Asn328=)
NM_001382391.1(CSPP1):c.-10-13T>A
NM_001382391.1(CSPP1):c.-10-20A>G
NM_001382391.1(CSPP1):c.-10-5T>A rs770289522
NM_001382391.1(CSPP1):c.-103C>T rs202181896
NM_001382391.1(CSPP1):c.-106C>T rs2129538421
NM_001382391.1(CSPP1):c.-112G>A
NM_001382391.1(CSPP1):c.-121A>C
NM_001382391.1(CSPP1):c.-124T>C
NM_001382391.1(CSPP1):c.-127C>G
NM_001382391.1(CSPP1):c.-139G>C
NM_001382391.1(CSPP1):c.-36C>T
NM_001382391.1(CSPP1):c.-39A>C
NM_001382391.1(CSPP1):c.-43A>C
NM_001382391.1(CSPP1):c.-45_-42del rs762530713
NM_001382391.1(CSPP1):c.-70G>C
NM_001382391.1(CSPP1):c.-73G>C
NM_001382391.1(CSPP1):c.-85T>C rs2129538434
NM_001382391.1(CSPP1):c.-91G>A rs200332502
NM_001382391.1(CSPP1):c.-94A>G rs1382795214
NM_001382391.1(CSPP1):c.100-11G>A
NM_001382391.1(CSPP1):c.100-12T>C
NM_001382391.1(CSPP1):c.1022+15A>T
NM_001382391.1(CSPP1):c.1022+7T>C
NM_001382391.1(CSPP1):c.1023-14C>T
NM_001382391.1(CSPP1):c.1023-16G>A
NM_001382391.1(CSPP1):c.1023-16_1023-13del
NM_001382391.1(CSPP1):c.1023-4T>G
NM_001382391.1(CSPP1):c.1023-9T>A
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
NM_001382391.1(CSPP1):c.1093+12A>G
NM_001382391.1(CSPP1):c.1093+16C>A
NM_001382391.1(CSPP1):c.1093+16C>G
NM_001382391.1(CSPP1):c.1093+17del rs2129547787
NM_001382391.1(CSPP1):c.1094-6A>G
NM_001382391.1(CSPP1):c.1094-9A>C
NM_001382391.1(CSPP1):c.1094-9A>G
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) rs768714635
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=) rs566786304
NM_001382391.1(CSPP1):c.1170A>G (p.Gln390=)
NM_001382391.1(CSPP1):c.1187+19T>A
NM_001382391.1(CSPP1):c.1187+7A>G
NM_001382391.1(CSPP1):c.1188-15T>G
NM_001382391.1(CSPP1):c.1188-20A>C
NM_001382391.1(CSPP1):c.1188-5T>A
NM_001382391.1(CSPP1):c.120T>G (p.Leu40=)
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=) rs775044108
NM_001382391.1(CSPP1):c.1245+14del rs760948267
NM_001382391.1(CSPP1):c.1245+22_1245+36del rs754206451
NM_001382391.1(CSPP1):c.1245+7G>A
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=) rs1283210787
NM_001382391.1(CSPP1):c.1288-11_1288-8del
NM_001382391.1(CSPP1):c.1288-12T>C
NM_001382391.1(CSPP1):c.1288-12del
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=) rs1817847996
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
NM_001382391.1(CSPP1):c.1380C>G (p.Leu460=)
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
NM_001382391.1(CSPP1):c.1496+15G>A
NM_001382391.1(CSPP1):c.1497-6A>G
NM_001382391.1(CSPP1):c.1497-8T>C
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=) rs2129551348
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=) rs1818326006
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=) rs2129551359
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
NM_001382391.1(CSPP1):c.1618+12A>G rs368578567
NM_001382391.1(CSPP1):c.1618+15G>T
NM_001382391.1(CSPP1):c.1618+20A>C rs756484052
NM_001382391.1(CSPP1):c.1618+8A>G
NM_001382391.1(CSPP1):c.1619-13T>C
NM_001382391.1(CSPP1):c.1619-8T>C rs2129551458
NM_001382391.1(CSPP1):c.1626A>G (p.Ser542=)
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=) rs1470629361
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
NM_001382391.1(CSPP1):c.1697+12G>T
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
NM_001382391.1(CSPP1):c.1698-12T>C
NM_001382391.1(CSPP1):c.1698-13_1698-12del
NM_001382391.1(CSPP1):c.1698-4G>C
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=) rs1036498137
NM_001382391.1(CSPP1):c.1828-11A>G
NM_001382391.1(CSPP1):c.1869A>G (p.Glu623=)
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=) rs1822589349
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=) rs561521861
NM_001382391.1(CSPP1):c.1914T>C (p.Tyr638=)
NM_001382391.1(CSPP1):c.1959A>C (p.Ala653=)
NM_001382391.1(CSPP1):c.1975+18A>C
NM_001382391.1(CSPP1):c.1976-20G>A
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
NM_001382391.1(CSPP1):c.199+14T>A rs2129541674
NM_001382391.1(CSPP1):c.199+19T>G
NM_001382391.1(CSPP1):c.200-13_200-11del rs766452341
NM_001382391.1(CSPP1):c.200-13del
NM_001382391.1(CSPP1):c.200-18A>T
NM_001382391.1(CSPP1):c.200-18_200-16del
NM_001382391.1(CSPP1):c.200-5T>C
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=) rs2129558010
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=) rs1375950004
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
NM_001382391.1(CSPP1):c.2128+11A>C
NM_001382391.1(CSPP1):c.2128+23_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+24_2128+36del
NM_001382391.1(CSPP1):c.2128+7_2128+25del rs2129558020
NM_001382391.1(CSPP1):c.2129-4C>G
NM_001382391.1(CSPP1):c.213A>T (p.Gly71=)
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=) rs887024306
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=) rs1826220671
NM_001382391.1(CSPP1):c.2241+14T>G
NM_001382391.1(CSPP1):c.2241+15G>A
NM_001382391.1(CSPP1):c.2241+18C>A
NM_001382391.1(CSPP1):c.2241+19A>C
NM_001382391.1(CSPP1):c.2241+20_2241+25del rs2129559087
NM_001382391.1(CSPP1):c.2242-13T>C
NM_001382391.1(CSPP1):c.2242-18_2242-15del rs747115433
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=) rs2129560136
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=) rs1827105533
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=) rs2129560142
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=) rs2129560155
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=) rs754878483
NM_001382391.1(CSPP1):c.2352T>C (p.Tyr784=)
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
NM_001382391.1(CSPP1):c.2392-12T>G rs1322610870
NM_001382391.1(CSPP1):c.2392-17_2392-12del rs763447128
NM_001382391.1(CSPP1):c.2392-8T>C
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=) rs1209655756
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=) rs1312436989
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
NM_001382391.1(CSPP1):c.2538+13C>A
NM_001382391.1(CSPP1):c.2538+14A>G
NM_001382391.1(CSPP1):c.2538+18A>G
NM_001382391.1(CSPP1):c.2538+19T>C
NM_001382391.1(CSPP1):c.2538+20G>A
NM_001382391.1(CSPP1):c.2539-13_2539-4del rs753606187
NM_001382391.1(CSPP1):c.2539-18A>G
NM_001382391.1(CSPP1):c.2539-8T>A
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
NM_001382391.1(CSPP1):c.2607T>C (p.Pro869=)
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
NM_001382391.1(CSPP1):c.2643+11T>C
NM_001382391.1(CSPP1):c.2643+16T>A
NM_001382391.1(CSPP1):c.2644-11T>C
NM_001382391.1(CSPP1):c.2644-12A>G rs2129562431
NM_001382391.1(CSPP1):c.2644-15A>C
NM_001382391.1(CSPP1):c.2644-18G>C
NM_001382391.1(CSPP1):c.2679A>G (p.Val893=)
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=) rs2129562477
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=) rs2129562485
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
NM_001382391.1(CSPP1):c.2711-13T>C
NM_001382391.1(CSPP1):c.2711-17T>C
NM_001382391.1(CSPP1):c.271T>C (p.Leu91=)
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=) rs2129562840
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
NM_001382391.1(CSPP1):c.2826C>T (p.Ile942=)
NM_001382391.1(CSPP1):c.2828+16C>A rs749065903
NM_001382391.1(CSPP1):c.2828+20T>A rs2129562857
NM_001382391.1(CSPP1):c.2828+8T>G
NM_001382391.1(CSPP1):c.2828+9A>C
NM_001382391.1(CSPP1):c.2829-7T>C
NM_001382391.1(CSPP1):c.2829-8A>G
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=) rs1586718478
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
NM_001382391.1(CSPP1):c.2968+14T>C
NM_001382391.1(CSPP1):c.2968+18C>T
NM_001382391.1(CSPP1):c.2969-14A>G
NM_001382391.1(CSPP1):c.2969-17C>T
NM_001382391.1(CSPP1):c.2969-19A>G
NM_001382391.1(CSPP1):c.2969-4C>T
NM_001382391.1(CSPP1):c.2969-8T>A
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) rs1831352053
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
NM_001382391.1(CSPP1):c.3110-7A>G rs1832018947
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
NM_001382391.1(CSPP1):c.3157-19del rs1446937196
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
NM_001382391.1(CSPP1):c.3220+13_3220+16del
NM_001382391.1(CSPP1):c.3220+8T>C
NM_001382391.1(CSPP1):c.3221-10G>A
NM_001382391.1(CSPP1):c.3221-17T>C
NM_001382391.1(CSPP1):c.3221-4T>C
NM_001382391.1(CSPP1):c.3221-5C>T
NM_001382391.1(CSPP1):c.3221-9T>A rs753184305
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) rs1442543547
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) rs2129575182
NM_001382391.1(CSPP1):c.3330+13C>A
NM_001382391.1(CSPP1):c.3330+13C>T
NM_001382391.1(CSPP1):c.3330+19T>A
NM_001382391.1(CSPP1):c.3330+20C>T
NM_001382391.1(CSPP1):c.3331-10C>T rs774609234
NM_001382391.1(CSPP1):c.3331-15_3331-13dup
NM_001382391.1(CSPP1):c.3331-7A>C rs2129575934
NM_001382391.1(CSPP1):c.3331-8A>G
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
NM_001382391.1(CSPP1):c.3369T>C (p.Ser1123=)
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) rs2129575946
NM_001382391.1(CSPP1):c.3396T>C (p.Val1132=)
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=) rs1327593032
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) rs546683385
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) rs747965774
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) rs2129575969
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
NM_001382391.1(CSPP1):c.3469+10C>T
NM_001382391.1(CSPP1):c.3470-12T>C
NM_001382391.1(CSPP1):c.3470-16C>T
NM_001382391.1(CSPP1):c.3470-19T>C
NM_001382391.1(CSPP1):c.3470-20G>A
NM_001382391.1(CSPP1):c.3470-4G>A
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) rs2129576649
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) rs760969187
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
NM_001382391.1(CSPP1):c.3582G>A (p.Leu1194=)
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) rs2129576668
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
NM_001382391.1(CSPP1):c.3636A>G (p.Lys1212=)
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) rs2129576686
NM_001382391.1(CSPP1):c.3663G>A (p.Leu1221=)
NM_001382391.1(CSPP1):c.3666G>A (p.Ser1222=)
NM_001382391.1(CSPP1):c.385-11T>G
NM_001382391.1(CSPP1):c.385-12T>A
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
NM_001382391.1(CSPP1):c.438G>A (p.Lys146=)
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=) rs1479574918
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=) rs2129545446
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) rs1308150996
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=) rs2129545457
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
NM_001382391.1(CSPP1):c.774A>G (p.Arg258=)
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=) rs2129545515
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=) rs1271272185
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=) rs2129545545
NM_001382391.1(CSPP1):c.882T>C (p.Ser294=)
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
NM_001382391.1(CSPP1):c.923+25_923+29del rs2129545562
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
NM_001386140.1(MTTP):c.1233C>T (p.Leu411=) rs1179169124
NM_001386140.1(MTTP):c.1770-10T>C rs1194740423
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=) rs1578257346
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001447.3(FAT2):c.7376G>A (p.Gly2459Glu)
NM_001447.3(FAT2):c.8608A>G (p.Thr2870Ala)
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_002222.6(ITPR1):c.*1366C>A rs146958900
NM_002739.5(PRKCG):c.*59dup rs144706041
NM_003640.5(ELP1):c.1644-13dup rs756059162
NM_003640.5(ELP1):c.2283+11_2283+15del rs778115996
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.2908T>C (p.Leu970=) rs180931232
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.958+19_958+20delinsAT rs2132024951
NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)
NM_004115.4(FGF14):c.*1058_*1062dup rs577253536
NM_004115.4(FGF14):c.*1445_*1446dup rs141506954
NM_004115.4(FGF14):c.*176dup rs144061152
NM_004115.4(FGF14):c.*1886_*1889dup rs559888067
NM_004115.4(FGF14):c.*794GT[4] rs371464074
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=) rs2086667654
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004977.3(KCNC3):c.2170+14C>T rs189018316
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_014053.4(FLVCR1):c.*2061CA[13] rs139242973
NM_014363.6(SACS):c.*1046CTTTA[1] rs66920661
NM_014363.6(SACS):c.*20del rs143617437
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10227A>G (p.Ser3409=) rs1593123878
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10731A>C (p.Thr3577=) rs759287298
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.1173T>A (p.Ser391=) rs150683286
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.1332A>G (p.Ala444=) rs1039811925
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.21-162C>G rs578105700
NM_014363.6(SACS):c.2904C>T (p.Asp968=) rs149585868
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3655C>T (p.Pro1219Ser) rs2137633545
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.972C>T (p.Asp324=) rs546652936
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.1010+14A>C
NM_015046.7(SETX):c.1010+4_1010+7dup rs1222378139
NM_015046.7(SETX):c.1026G>A (p.Pro342=)
NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)
NM_015046.7(SETX):c.1075T>C (p.Tyr359His)
NM_015046.7(SETX):c.1098+17_1098+19dup
NM_015046.7(SETX):c.1099-13del
NM_015046.7(SETX):c.1099-17C>T
NM_015046.7(SETX):c.1099-20C>T
NM_015046.7(SETX):c.1260T>C (p.Asp420=) rs2131462924
NM_015046.7(SETX):c.1338A>G (p.Gln446=)
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala) rs370363342
NM_015046.7(SETX):c.135T>A (p.Ala45=)
NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)
NM_015046.7(SETX):c.1392A>T (p.Ser464=)
NM_015046.7(SETX):c.1407T>C (p.His469=)
NM_015046.7(SETX):c.1423T>C (p.Leu475=)
NM_015046.7(SETX):c.1443T>C (p.Ser481=)
NM_015046.7(SETX):c.1536C>T (p.Ser512=) rs2131460559
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)
NM_015046.7(SETX):c.1590T>C (p.Ser530=)
NM_015046.7(SETX):c.159A>G (p.Glu53=) rs2131575185
NM_015046.7(SETX):c.160T>C (p.Leu54=)
NM_015046.7(SETX):c.1617T>A (p.Ile539=)
NM_015046.7(SETX):c.162G>A (p.Leu54=) rs1175429740
NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)
NM_015046.7(SETX):c.1668G>A (p.Lys556=) rs1328865930
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly) rs770280073
NM_015046.7(SETX):c.174T>C (p.His58=) rs1470975448
NM_015046.7(SETX):c.178-19C>T
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr) rs768673354
NM_015046.7(SETX):c.1894A>G (p.Arg632Gly)
NM_015046.7(SETX):c.197C>T (p.Thr66Ile)
NM_015046.7(SETX):c.1986C>T (p.Asn662=) rs1307680734
NM_015046.7(SETX):c.199T>C (p.Leu67=) rs2131558600
NM_015046.7(SETX):c.2037A>G (p.Leu679=) rs1432462823
NM_015046.7(SETX):c.207C>G (p.Leu69=)
NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)
NM_015046.7(SETX):c.2133G>A (p.Lys711=) rs746772505
NM_015046.7(SETX):c.2154C>A (p.Ile718=)
NM_015046.7(SETX):c.2160A>C (p.Ser720=)
NM_015046.7(SETX):c.2190T>C (p.Asn730=)
NM_015046.7(SETX):c.2232A>C (p.Thr744=) rs749481788
NM_015046.7(SETX):c.2316T>C (p.Leu772=)
NM_015046.7(SETX):c.2380G>A (p.Val794Ile)
NM_015046.7(SETX):c.2435A>G (p.Asp812Gly)
NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)
NM_015046.7(SETX):c.24G>A (p.Thr8=)
NM_015046.7(SETX):c.2587T>C (p.Leu863=)
NM_015046.7(SETX):c.2646C>T (p.Asn882=)
NM_015046.7(SETX):c.2668C>T (p.His890Tyr)
NM_015046.7(SETX):c.267A>C (p.Ile89=)
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)
NM_015046.7(SETX):c.273C>T (p.Asp91=)
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser) rs778882347
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
NM_015046.7(SETX):c.2895A>G (p.Leu965=)
NM_015046.7(SETX):c.2902C>T (p.Leu968=)
NM_015046.7(SETX):c.2925G>C (p.Thr975=)
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.2964A>G (p.Gln988=)
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)
NM_015046.7(SETX):c.3018A>T (p.Gly1006=)
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3084G>A (p.Leu1028=)
NM_015046.7(SETX):c.3096A>G (p.Lys1032=)
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)
NM_015046.7(SETX):c.3437G>A (p.Ser1146Asn)
NM_015046.7(SETX):c.34G>T (p.Ala12Ser)
NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
NM_015046.7(SETX):c.3651G>A (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3699C>T (p.Ile1233=)
NM_015046.7(SETX):c.3732A>G (p.Lys1244=)
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
NM_015046.7(SETX):c.3837G>A (p.Glu1279=)
NM_015046.7(SETX):c.388+12G>A
NM_015046.7(SETX):c.388+16G>A
NM_015046.7(SETX):c.388+19C>G
NM_015046.7(SETX):c.388+19C>T
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
NM_015046.7(SETX):c.389-15T>C
NM_015046.7(SETX):c.389-20A>C rs1848060275
NM_015046.7(SETX):c.389-7T>C
NM_015046.7(SETX):c.389-8_389-6del
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)
NM_015046.7(SETX):c.3966C>A (p.Thr1322=) rs772257618
NM_015046.7(SETX):c.3966C>T (p.Thr1322=)
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)
NM_015046.7(SETX):c.407C>T (p.Ala136Val)
NM_015046.7(SETX):c.4210G>A (p.Val1404Ile)
NM_015046.7(SETX):c.4213C>T (p.Leu1405Phe)
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
NM_015046.7(SETX):c.4374C>G (p.Val1458=)
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)
NM_015046.7(SETX):c.4516A>G (p.Met1506Val)
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)
NM_015046.7(SETX):c.459T>C (p.His153=) rs774939461
NM_015046.7(SETX):c.4600G>C (p.Asp1534His) rs746807833
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.474G>A (p.Leu158=)
NM_015046.7(SETX):c.4931T>C (p.Ile1644Thr)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4961A>G (p.Asn1654Ser)
NM_015046.7(SETX):c.4978C>T (p.His1660Tyr)
NM_015046.7(SETX):c.498+10A>G
NM_015046.7(SETX):c.498+8dup
NM_015046.7(SETX):c.4983T>G (p.Pro1661=)
NM_015046.7(SETX):c.499-13_499-8dup
NM_015046.7(SETX):c.499-18_499-15del
NM_015046.7(SETX):c.499-8G>T
NM_015046.7(SETX):c.4992G>T (p.Pro1664=)
NM_015046.7(SETX):c.502C>T (p.Arg168Trp)
NM_015046.7(SETX):c.5042A>G (p.Tyr1681Cys)
NM_015046.7(SETX):c.5097C>T (p.Asp1699=) rs1163054039
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)
NM_015046.7(SETX):c.5160G>T (p.Gly1720=) rs763408913
NM_015046.7(SETX):c.5196T>C (p.Pro1732=)
NM_015046.7(SETX):c.5199G>A (p.Val1733=)
NM_015046.7(SETX):c.5274+14T>C
NM_015046.7(SETX):c.528A>G (p.Arg176=)
NM_015046.7(SETX):c.5374+20A>G
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5375-20G>T
NM_015046.7(SETX):c.5375-9G>A
NM_015046.7(SETX):c.5375-9G>C rs1239409311
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
NM_015046.7(SETX):c.546C>T (p.Asp182=) rs199748733
NM_015046.7(SETX):c.5505A>G (p.Glu1835=) rs2131305953
NM_015046.7(SETX):c.5538C>G (p.Arg1846=)
NM_015046.7(SETX):c.5549-5G>A
NM_015046.7(SETX):c.5549-6T>C
NM_015046.7(SETX):c.5604G>A (p.Pro1868=) rs373607369
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)
NM_015046.7(SETX):c.5637A>T (p.Val1879=) rs2131295454
NM_015046.7(SETX):c.5667G>A (p.Lys1889=)
NM_015046.7(SETX):c.567A>G (p.Leu189=)
NM_015046.7(SETX):c.5781+7G>A
NM_015046.7(SETX):c.5835A>G (p.Ala1945=) rs1298267771
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
NM_015046.7(SETX):c.5949+13G>A
NM_015046.7(SETX):c.5949+13G>T rs2131289221
NM_015046.7(SETX):c.5950-11G>A
NM_015046.7(SETX):c.5950-20G>A
NM_015046.7(SETX):c.5950-4G>A
NM_015046.7(SETX):c.5950-5T>C
NM_015046.7(SETX):c.5964G>A (p.Gly1988=) rs775658101
NM_015046.7(SETX):c.5994C>T (p.Ile1998=)
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)
NM_015046.7(SETX):c.6106+8dup
NM_015046.7(SETX):c.6107-19C>T
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)
NM_015046.7(SETX):c.6159T>C (p.Asn2053=) rs2131248104
NM_015046.7(SETX):c.6205A>G (p.Met2069Val)
NM_015046.7(SETX):c.6208+17G>T
NM_015046.7(SETX):c.6209-18_6209-15del
NM_015046.7(SETX):c.6209-7_6209-6insG rs2131246566
NM_015046.7(SETX):c.6282T>C (p.Leu2094=)
NM_015046.7(SETX):c.62A>G (p.Tyr21Cys)
NM_015046.7(SETX):c.6300A>G (p.Leu2100=)
NM_015046.7(SETX):c.6325-20A>G
NM_015046.7(SETX):c.6360T>A (p.Ser2120=)
NM_015046.7(SETX):c.6384T>A (p.Ser2128=) rs2131234628
NM_015046.7(SETX):c.6390T>C (p.Ile2130=) rs2131234539
NM_015046.7(SETX):c.6397-17A>C
NM_015046.7(SETX):c.6397-20T>C
NM_015046.7(SETX):c.6397-5C>G
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) rs1387036733
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
NM_015046.7(SETX):c.6516T>G (p.Gly2172=)
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)
NM_015046.7(SETX):c.6547-11A>G
NM_015046.7(SETX):c.6547-15del
NM_015046.7(SETX):c.6588C>T (p.Ile2196=)
NM_015046.7(SETX):c.6610C>T (p.Leu2204=) rs2131200445
NM_015046.7(SETX):c.6654+9_6654+11del
NM_015046.7(SETX):c.6685A>G (p.Met2229Val)
NM_015046.7(SETX):c.6756A>G (p.Leu2252=)
NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)
NM_015046.7(SETX):c.6842+15T>A
NM_015046.7(SETX):c.6842+19T>C
NM_015046.7(SETX):c.6842+7T>A
NM_015046.7(SETX):c.6843-18_6843-17del
NM_015046.7(SETX):c.6843-4A>T rs1466427179
NM_015046.7(SETX):c.6849A>G (p.Thr2283=)
NM_015046.7(SETX):c.6867A>C (p.Ser2289=)
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) rs1323126988
NM_015046.7(SETX):c.6936-8T>A
NM_015046.7(SETX):c.6990T>G (p.Ile2330Met)
NM_015046.7(SETX):c.7041T>C (p.His2347=)
NM_015046.7(SETX):c.7059G>A (p.Thr2353=)
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
NM_015046.7(SETX):c.708C>T (p.Ser236=)
NM_015046.7(SETX):c.7100+19T>C
NM_015046.7(SETX):c.7131C>T (p.Phe2377=)
NM_015046.7(SETX):c.7146G>A (p.Lys2382=) rs2131148463
NM_015046.7(SETX):c.7164G>A (p.Thr2388=) rs368602563
NM_015046.7(SETX):c.718+11T>A
NM_015046.7(SETX):c.718+13C>T
NM_015046.7(SETX):c.718+16A>C rs769647958
NM_015046.7(SETX):c.718+16A>G
NM_015046.7(SETX):c.718+18A>C rs773630853
NM_015046.7(SETX):c.719-16C>T
NM_015046.7(SETX):c.719-17T>G rs140720865
NM_015046.7(SETX):c.719-17dup
NM_015046.7(SETX):c.719-18C>T
NM_015046.7(SETX):c.7199+14_7199+16del
NM_015046.7(SETX):c.7199+17G>T rs768161524
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)
NM_015046.7(SETX):c.7281C>G (p.Thr2427=) rs1482971726
NM_015046.7(SETX):c.7287+16C>T
NM_015046.7(SETX):c.7288-14C>T
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
NM_015046.7(SETX):c.742C>T (p.Leu248Phe) rs748358261
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)
NM_015046.7(SETX):c.7458C>G (p.Pro2486=) rs2131114205
NM_015046.7(SETX):c.7494A>C (p.Gly2498=) rs1404779640
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
NM_015046.7(SETX):c.7571C>T (p.Ser2524Leu)
NM_015046.7(SETX):c.75T>G (p.Thr25=) rs1589791526
NM_015046.7(SETX):c.763T>A (p.Ser255Thr)
NM_015046.7(SETX):c.7680C>A (p.Pro2560=)
NM_015046.7(SETX):c.7709C>T (p.Pro2570Leu)
NM_015046.7(SETX):c.7713T>C (p.Pro2571=) rs2131112226
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7764G>A (p.Gln2588=)
NM_015046.7(SETX):c.7850C>T (p.Thr2617Met)
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.7872C>T (p.Asp2624=)
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7881G>A (p.Glu2627=)
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
NM_015046.7(SETX):c.792T>C (p.Asn264=)
NM_015046.7(SETX):c.7941T>C (p.Gly2647=) rs1471003365
NM_015046.7(SETX):c.794A>G (p.Asp265Gly)
NM_015046.7(SETX):c.8016G>A (p.Lys2672=)
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
NM_015046.7(SETX):c.838+10T>G rs2131491563
NM_015046.7(SETX):c.839-12A>C
NM_015046.7(SETX):c.839-14C>T
NM_015046.7(SETX):c.839-20A>G
NM_015046.7(SETX):c.879T>C (p.Phe293=)
NM_015046.7(SETX):c.889C>T (p.Leu297=)
NM_015046.7(SETX):c.912C>T (p.Val304=) rs1473756878
NM_015046.7(SETX):c.951C>T (p.Thr317=) rs1025452911
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
NM_015215.4(CAMTA1):c.-10G>C
NM_015215.4(CAMTA1):c.1044G>A (p.Gln348=)
NM_015215.4(CAMTA1):c.1128G>A (p.Pro376=)
NM_015215.4(CAMTA1):c.1224C>T (p.Ala408=)
NM_015215.4(CAMTA1):c.1377C>T (p.Asn459=)
NM_015215.4(CAMTA1):c.174T>G (p.Leu58=)
NM_015215.4(CAMTA1):c.1947G>A (p.Thr649=)
NM_015215.4(CAMTA1):c.1998C>G (p.Ile666Met) rs141192116
NM_015215.4(CAMTA1):c.2697C>T (p.Ser899=)
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_015215.4(CAMTA1):c.2914+2448del
NM_015215.4(CAMTA1):c.3414G>A (p.Ser1138=)
NM_015215.4(CAMTA1):c.4220C>G (p.Ala1407Gly)
NM_015215.4(CAMTA1):c.4287C>A (p.Asp1429Glu)
NM_015215.4(CAMTA1):c.4384G>A (p.Glu1462Lys)
NM_015215.4(CAMTA1):c.4401T>C (p.Ser1467=)
NM_015215.4(CAMTA1):c.4446C>A (p.Ile1482=)
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys) rs2096854165
NM_015215.4(CAMTA1):c.576C>T (p.Cys192=)
NM_015215.4(CAMTA1):c.806-5C>T
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=) rs1966518935
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=) rs1970448329
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_016169.4(SUFU):c.*2150G>A rs561461171
NM_016169.4(SUFU):c.*742G>A rs142145337
NM_016169.4(SUFU):c.1002C>T (p.Gly334=)
NM_016169.4(SUFU):c.1017G>A (p.Arg339=) rs2063496731
NM_016169.4(SUFU):c.1022+10C>T
NM_016169.4(SUFU):c.1022+12A>C
NM_016169.4(SUFU):c.1022+15G>A
NM_016169.4(SUFU):c.1022+20del rs1265431746
NM_016169.4(SUFU):c.1023-12C>T
NM_016169.4(SUFU):c.1023-14T>C
NM_016169.4(SUFU):c.1023-15G>A
NM_016169.4(SUFU):c.1023-18C>G
NM_016169.4(SUFU):c.1023-18C>T rs892399500
NM_016169.4(SUFU):c.1023-19T>C
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.1023-6T>C rs2063672832
NM_016169.4(SUFU):c.1023-8C>T rs1554854552
NM_016169.4(SUFU):c.1023-9G>C rs1590082088
NM_016169.4(SUFU):c.1023G>A (p.Pro341=) rs2135929726
NM_016169.4(SUFU):c.1035C>T (p.Asp345=)
NM_016169.4(SUFU):c.1041G>C (p.Leu347=)
NM_016169.4(SUFU):c.1056C>A (p.Ser352=) rs1590082153
NM_016169.4(SUFU):c.1056C>T (p.Ser352=) rs1590082153
NM_016169.4(SUFU):c.1059G>T (p.Thr353=)
NM_016169.4(SUFU):c.105C>T (p.His35=)
NM_016169.4(SUFU):c.1065C>A (p.Ile355=)
NM_016169.4(SUFU):c.1068T>A (p.Ile356=)
NM_016169.4(SUFU):c.1071C>T (p.Pro357=) rs1590082185
NM_016169.4(SUFU):c.1077G>A (p.Glu359=) rs1590082194
NM_016169.4(SUFU):c.1090C>A (p.Arg364=) rs1305395503
NM_016169.4(SUFU):c.111C>T (p.Ile37=)
NM_016169.4(SUFU):c.1122C>T (p.Asn374=) rs1590082264
NM_016169.4(SUFU):c.1134A>G (p.Gly378=)
NM_016169.4(SUFU):c.1140C>G (p.Leu380=)
NM_016169.4(SUFU):c.1146T>C (p.Pro382=) rs1159204850
NM_016169.4(SUFU):c.1149C>T (p.Leu383=)
NM_016169.4(SUFU):c.1152C>T (p.Cys384=) rs1590082342
NM_016169.4(SUFU):c.1155A>G (p.Leu385=)
NM_016169.4(SUFU):c.1157+11C>T
NM_016169.4(SUFU):c.1157+11_1157+12del
NM_016169.4(SUFU):c.1157+13del
NM_016169.4(SUFU):c.1157+14C>T rs2063675828
NM_016169.4(SUFU):c.1157+16C>G
NM_016169.4(SUFU):c.1157+17T>G rs2135930605
NM_016169.4(SUFU):c.1157+20CA[4]
NM_016169.4(SUFU):c.1157+7G>C rs371548374
NM_016169.4(SUFU):c.1158-10C>T rs904045520
NM_016169.4(SUFU):c.1158-10_1158-9insT rs2135934819
NM_016169.4(SUFU):c.1158-11C>T rs2135934809
NM_016169.4(SUFU):c.1158-13T>A
NM_016169.4(SUFU):c.1158-13T>C
NM_016169.4(SUFU):c.1158-13T>G
NM_016169.4(SUFU):c.1158-15T>C rs998644443
NM_016169.4(SUFU):c.1158-18C>G rs2135934793
NM_016169.4(SUFU):c.1158-18_1158-15dup rs2063696440
NM_016169.4(SUFU):c.1158-4C>T rs768603330
NM_016169.4(SUFU):c.1158-8_1158-7insCTG rs2135934830
NM_016169.4(SUFU):c.1158-9C>T
NM_016169.4(SUFU):c.1158G>A (p.Arg386=) rs773979098
NM_016169.4(SUFU):c.1167C>G (p.Leu389=)
NM_016169.4(SUFU):c.1167C>T (p.Leu389=)
NM_016169.4(SUFU):c.1179G>A (p.Arg393=)
NM_016169.4(SUFU):c.1185T>C (p.Phe395=) rs760982248
NM_016169.4(SUFU):c.120G>A (p.Glu40=)
NM_016169.4(SUFU):c.1233G>C (p.Thr411=)
NM_016169.4(SUFU):c.1239G>A (p.Val413=)
NM_016169.4(SUFU):c.1248C>T (p.Ala416=)
NM_016169.4(SUFU):c.1254C>A (p.Ala418=) rs1554854775
NM_016169.4(SUFU):c.1254C>T (p.Ala418=) rs1554854775
NM_016169.4(SUFU):c.1263G>A (p.Glu421=)
NM_016169.4(SUFU):c.1281T>C (p.His427=)
NM_016169.4(SUFU):c.1284A>G (p.Gly428=) rs2135935488
NM_016169.4(SUFU):c.1287C>G (p.Pro429=) rs2135935515
NM_016169.4(SUFU):c.1287C>T (p.Pro429=)
NM_016169.4(SUFU):c.1293A>G (p.Leu431=) rs2135935555
NM_016169.4(SUFU):c.1296+10C>A
NM_016169.4(SUFU):c.1296+13_1296+91del
NM_016169.4(SUFU):c.1296+14T>A
NM_016169.4(SUFU):c.1296+14T>G rs1489647547
NM_016169.4(SUFU):c.1296+18C>A
NM_016169.4(SUFU):c.1296+18C>T
NM_016169.4(SUFU):c.1296+18dup
NM_016169.4(SUFU):c.1297-12G>A
NM_016169.4(SUFU):c.1297-15C>T
NM_016169.4(SUFU):c.1297-19C>G
NM_016169.4(SUFU):c.1297-20C>A
NM_016169.4(SUFU):c.1297-5C>T rs1275187815
NM_016169.4(SUFU):c.1297-7T>C
NM_016169.4(SUFU):c.129C>G (p.Arg43=) rs1453485604
NM_016169.4(SUFU):c.129C>T (p.Arg43=) rs1453485604
NM_016169.4(SUFU):c.1302G>A (p.Leu434=) rs780117353
NM_016169.4(SUFU):c.1308C>G (p.Thr436=)
NM_016169.4(SUFU):c.1323G>A (p.Glu441=)
NM_016169.4(SUFU):c.1348T>C (p.Leu450=)
NM_016169.4(SUFU):c.1365+13G>A
NM_016169.4(SUFU):c.1365+14A>G
NM_016169.4(SUFU):c.1365+6C>A rs2063794144
NM_016169.4(SUFU):c.1365+7T>A
NM_016169.4(SUFU):c.1365+8T>C
NM_016169.4(SUFU):c.1366-10C>A
NM_016169.4(SUFU):c.1366-12C>T
NM_016169.4(SUFU):c.1366-13G>C
NM_016169.4(SUFU):c.1366-15T>A
NM_016169.4(SUFU):c.1366-17G>C
NM_016169.4(SUFU):c.1366-6C>T rs1564712471
NM_016169.4(SUFU):c.1366-7_1366-5del
NM_016169.4(SUFU):c.1371A>G (p.Lys457=)
NM_016169.4(SUFU):c.138T>C (p.Pro46=)
NM_016169.4(SUFU):c.1395T>C (p.Pro465=)
NM_016169.4(SUFU):c.1398A>G (p.Glu466=) rs2135959452
NM_016169.4(SUFU):c.1416C>T (p.Ser472=) rs1318853616
NM_016169.4(SUFU):c.1419C>T (p.Ile473=) rs1342217589
NM_016169.4(SUFU):c.1422G>T (p.Leu474=)
NM_016169.4(SUFU):c.1431G>T (p.Val477=)
NM_016169.4(SUFU):c.1434G>A (p.Val478=)
NM_016169.4(SUFU):c.1434G>T (p.Val478=)
NM_016169.4(SUFU):c.1446G>T (p.Pro482=)
NM_016169.4(SUFU):c.1452C>T (p.His484=) rs2135959647
NM_016169.4(SUFU):c.147G>A (p.Pro49=) rs1554840859
NM_016169.4(SUFU):c.150C>T (p.Asn50=)
NM_016169.4(SUFU):c.153G>A (p.Pro51=)
NM_016169.4(SUFU):c.153G>C (p.Pro51=)
NM_016169.4(SUFU):c.156C>T (p.Leu52=) rs1589970169
NM_016169.4(SUFU):c.15G>A (p.Arg5=) rs2062288402
NM_016169.4(SUFU):c.165C>A (p.Thr55=)
NM_016169.4(SUFU):c.171C>T (p.Ile57=) rs1283661186
NM_016169.4(SUFU):c.182+14C>G rs1256929705
NM_016169.4(SUFU):c.182+17G>T rs2135599022
NM_016169.4(SUFU):c.182+18G>C
NM_016169.4(SUFU):c.182+20G>A rs2135599029
NM_016169.4(SUFU):c.182+7T>A rs759858682
NM_016169.4(SUFU):c.182+7T>C rs759858682
NM_016169.4(SUFU):c.182+9T>C rs756923648
NM_016169.4(SUFU):c.183-10T>C rs1060504148
NM_016169.4(SUFU):c.183-11G>T
NM_016169.4(SUFU):c.183-13T>C
NM_016169.4(SUFU):c.183-16G>A rs2135619783
NM_016169.4(SUFU):c.183-18G>C
NM_016169.4(SUFU):c.183-19T>C
NM_016169.4(SUFU):c.183-20C>T rs761472045
NM_016169.4(SUFU):c.183-4del rs1345403982
NM_016169.4(SUFU):c.189T>C (p.Gly63=) rs2135619936
NM_016169.4(SUFU):c.192C>T (p.Gly64=) rs2135619956
NM_016169.4(SUFU):c.201C>T (p.Pro67=)
NM_016169.4(SUFU):c.202T>C (p.Leu68=) rs1589975244
NM_016169.4(SUFU):c.207C>T (p.Asp69=) rs778708985
NM_016169.4(SUFU):c.21C>T (p.Ser7=)
NM_016169.4(SUFU):c.231G>T (p.Val77=)
NM_016169.4(SUFU):c.240T>G (p.Pro80=) rs2135620342
NM_016169.4(SUFU):c.255C>G (p.Pro85=) rs113671745
NM_016169.4(SUFU):c.258G>A (p.Glu86=) rs1183328233
NM_016169.4(SUFU):c.261C>T (p.His87=)
NM_016169.4(SUFU):c.270C>T (p.Tyr90=) rs2135620594
NM_016169.4(SUFU):c.27C>A (p.Ala9=) rs1244167364
NM_016169.4(SUFU):c.27C>T (p.Ala9=)
NM_016169.4(SUFU):c.285G>A (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.285G>C (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.285G>T (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.30C>A (p.Pro10=)
NM_016169.4(SUFU):c.317+11G>A
NM_016169.4(SUFU):c.317+12C>T
NM_016169.4(SUFU):c.317+14A>G
NM_016169.4(SUFU):c.317+15C>T
NM_016169.4(SUFU):c.317+16C>G
NM_016169.4(SUFU):c.317+18G>C rs765919055
NM_016169.4(SUFU):c.317+7A>G
NM_016169.4(SUFU):c.317+9A>C rs1333202541
NM_016169.4(SUFU):c.317+9A>G
NM_016169.4(SUFU):c.318-10T>C rs2062894940
NM_016169.4(SUFU):c.318-11A>G
NM_016169.4(SUFU):c.318-11del
NM_016169.4(SUFU):c.318-17C>T
NM_016169.4(SUFU):c.318-19del
NM_016169.4(SUFU):c.318-22_318-19del
NM_016169.4(SUFU):c.318-9G>A
NM_016169.4(SUFU):c.318G>A (p.Glu106=) rs1188593672
NM_016169.4(SUFU):c.327A>G (p.Gly109=) rs2135743007
NM_016169.4(SUFU):c.336A>T (p.Gly112=)
NM_016169.4(SUFU):c.33C>T (p.Gly11=) rs12780566
NM_016169.4(SUFU):c.357G>A (p.Glu119=)
NM_016169.4(SUFU):c.363C>G (p.Thr121=)
NM_016169.4(SUFU):c.363C>T (p.Thr121=) rs910976342
NM_016169.4(SUFU):c.369_370delinsAT (p.Arg123_Leu124=) rs2135743228
NM_016169.4(SUFU):c.36C>G (p.Pro12=) rs1564654365
NM_016169.4(SUFU):c.36C>T (p.Pro12=)
NM_016169.4(SUFU):c.370C>T (p.Leu124=)
NM_016169.4(SUFU):c.375G>A (p.Lys125=) rs184867271
NM_016169.4(SUFU):c.384T>C (p.Thr128=)
NM_016169.4(SUFU):c.399A>G (p.Pro133=)
NM_016169.4(SUFU):c.402A>G (p.Pro134=)
NM_016169.4(SUFU):c.411C>A (p.Pro137=) rs946508687
NM_016169.4(SUFU):c.414A>T (p.Ala138=)
NM_016169.4(SUFU):c.426G>A (p.Gln142=) rs2135743475
NM_016169.4(SUFU):c.429C>G (p.Gly143=)
NM_016169.4(SUFU):c.429C>T (p.Gly143=) rs2062896951
NM_016169.4(SUFU):c.42G>A (p.Ala14=) rs1179829804
NM_016169.4(SUFU):c.438A>T (p.Arg146=) rs775280499
NM_016169.4(SUFU):c.447C>T (p.Phe149=) rs2062897233
NM_016169.4(SUFU):c.454+10C>T rs2135743674
NM_016169.4(SUFU):c.454+11A>G
NM_016169.4(SUFU):c.454+13G>C
NM_016169.4(SUFU):c.454+13_454+14dup rs780518303
NM_016169.4(SUFU):c.454+15C>T
NM_016169.4(SUFU):c.454+17G>C
NM_016169.4(SUFU):c.454+18G>T
NM_016169.4(SUFU):c.454+20TGCTG[3]
NM_016169.4(SUFU):c.454+7G>T
NM_016169.4(SUFU):c.454+8G>A rs1172897703
NM_016169.4(SUFU):c.455-11C>G
NM_016169.4(SUFU):c.455-13A>G
NM_016169.4(SUFU):c.455-13A>T
NM_016169.4(SUFU):c.455-15G>A
NM_016169.4(SUFU):c.455-17T>G rs2135866499
NM_016169.4(SUFU):c.455-19C>A rs370818590
NM_016169.4(SUFU):c.455-19C>T
NM_016169.4(SUFU):c.455-20T>A
NM_016169.4(SUFU):c.455-5C>T rs2135866563
NM_016169.4(SUFU):c.455-6C>T rs2135866556
NM_016169.4(SUFU):c.455-9C>T
NM_016169.4(SUFU):c.45C>A (p.Pro15=)
NM_016169.4(SUFU):c.48G>C (p.Pro16=)
NM_016169.4(SUFU):c.48G>T (p.Pro16=) rs1467238395
NM_016169.4(SUFU):c.492C>T (p.His164=)
NM_016169.4(SUFU):c.516A>C (p.Ser172=)
NM_016169.4(SUFU):c.51C>G (p.Ala17=)
NM_016169.4(SUFU):c.51C>T (p.Ala17=)
NM_016169.4(SUFU):c.546C>T (p.Asp182=) rs2135867056
NM_016169.4(SUFU):c.54T>C (p.Pro18=) rs1453186079
NM_016169.4(SUFU):c.558G>A (p.Gln186=)
NM_016169.4(SUFU):c.561C>G (p.Pro187=) rs769503197
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
NM_016169.4(SUFU):c.573C>G (p.Pro191=)
NM_016169.4(SUFU):c.573C>T (p.Pro191=) rs1170074019
NM_016169.4(SUFU):c.588C>G (p.Thr196=)
NM_016169.4(SUFU):c.597+11G>A rs754485815
NM_016169.4(SUFU):c.597+12G>C
NM_016169.4(SUFU):c.597+13T>C
NM_016169.4(SUFU):c.597+19G>A
NM_016169.4(SUFU):c.597+19G>T
NM_016169.4(SUFU):c.597+5G>A rs1590062007
NM_016169.4(SUFU):c.597+6dup
NM_016169.4(SUFU):c.597+8A>C rs2135867474
NM_016169.4(SUFU):c.597+9C>A
NM_016169.4(SUFU):c.597+9C>T rs768196164
NM_016169.4(SUFU):c.598-12C>G
NM_016169.4(SUFU):c.598-13T>C
NM_016169.4(SUFU):c.598-14A>C
NM_016169.4(SUFU):c.598-14A>G
NM_016169.4(SUFU):c.598-18T>C
NM_016169.4(SUFU):c.598-4T>C rs2135870306
NM_016169.4(SUFU):c.598-4T>G rs2135870306
NM_016169.4(SUFU):c.598-5C>A
NM_016169.4(SUFU):c.598-6C>T rs2135870298
NM_016169.4(SUFU):c.598-7G>A
NM_016169.4(SUFU):c.598-8G>C rs2135870288
NM_016169.4(SUFU):c.598-8G>T rs2135870288
NM_016169.4(SUFU):c.600C>A (p.Ile200=)
NM_016169.4(SUFU):c.603T>C (p.Val201=) rs1554852370
NM_016169.4(SUFU):c.60G>C (p.Pro20=)
NM_016169.4(SUFU):c.60G>T (p.Pro20=) rs1589969926
NM_016169.4(SUFU):c.618A>G (p.Glu206=)
NM_016169.4(SUFU):c.624A>C (p.Leu208=)
NM_016169.4(SUFU):c.624A>G (p.Leu208=) rs761722899
NM_016169.4(SUFU):c.633C>T (p.Ala211=) rs2135870571
NM_016169.4(SUFU):c.639G>A (p.Gln213=) rs1590062886
NM_016169.4(SUFU):c.63T>C (p.Thr21=) rs1589969931
NM_016169.4(SUFU):c.654C>A (p.Gly218=) rs1227186441
NM_016169.4(SUFU):c.654C>T (p.Gly218=) rs1227186441
NM_016169.4(SUFU):c.660G>A (p.Leu220=) rs2135870749
NM_016169.4(SUFU):c.663G>A (p.Glu221=)
NM_016169.4(SUFU):c.664C>T (p.Leu222=) rs765345575
NM_016169.4(SUFU):c.666G>A (p.Leu222=)
NM_016169.4(SUFU):c.666G>C (p.Leu222=)
NM_016169.4(SUFU):c.669G>A (p.Leu223=) rs1432212427
NM_016169.4(SUFU):c.669G>C (p.Leu223=)
NM_016169.4(SUFU):c.66C>A (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.66C>G (p.Ala22=)
NM_016169.4(SUFU):c.66C>T (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.678G>T (p.Val226=)
NM_016169.4(SUFU):c.681T>C (p.Pro227=)
NM_016169.4(SUFU):c.683+10C>A
NM_016169.4(SUFU):c.683+10del
NM_016169.4(SUFU):c.683+14C>A
NM_016169.4(SUFU):c.683+18G>A
NM_016169.4(SUFU):c.683+19T>C
NM_016169.4(SUFU):c.683+21_683+24dup
NM_016169.4(SUFU):c.683+3G>A rs1590062961
NM_016169.4(SUFU):c.683+7A>G rs764695403
NM_016169.4(SUFU):c.683+8C>G
NM_016169.4(SUFU):c.684-11C>T
NM_016169.4(SUFU):c.684-11del rs1650612996
NM_016169.4(SUFU):c.684-13T>C
NM_016169.4(SUFU):c.684-19C>A
NM_016169.4(SUFU):c.684-20T>C
NM_016169.4(SUFU):c.684-5C>T
NM_016169.4(SUFU):c.684-6C>T
NM_016169.4(SUFU):c.687T>C (p.Ala229=)
NM_016169.4(SUFU):c.696C>T (p.Pro232=) rs2063434189
NM_016169.4(SUFU):c.69C>G (p.Pro23=)
NM_016169.4(SUFU):c.69C>T (p.Pro23=) rs1320688671
NM_016169.4(SUFU):c.6G>A (p.Ala2=) rs746555296
NM_016169.4(SUFU):c.702G>T (p.Leu234=)
NM_016169.4(SUFU):c.708T>C (p.Thr236=) rs2135872255
NM_016169.4(SUFU):c.711C>T (p.Asp237=)
NM_016169.4(SUFU):c.720G>A (p.Arg240=)
NM_016169.4(SUFU):c.72G>A (p.Pro24=) rs1322344970
NM_016169.4(SUFU):c.741C>T (p.Ile247=) rs2135872473
NM_016169.4(SUFU):c.753G>C (p.Leu251=) rs2063435526
NM_016169.4(SUFU):c.756+12G>C
NM_016169.4(SUFU):c.756+16G>A
NM_016169.4(SUFU):c.756+17G>A
NM_016169.4(SUFU):c.756+19A>G
NM_016169.4(SUFU):c.756+20_756+21del
NM_016169.4(SUFU):c.757-11_757-7del rs1060501103
NM_016169.4(SUFU):c.757-15G>A
NM_016169.4(SUFU):c.757-15G>T rs1564698642
NM_016169.4(SUFU):c.757-17T>G rs2135880991
NM_016169.4(SUFU):c.757-4G>A
NM_016169.4(SUFU):c.757-4G>T rs1554852773
NM_016169.4(SUFU):c.757-6A>G rs2135881035
NM_016169.4(SUFU):c.757-7C>T rs2135881029
NM_016169.4(SUFU):c.762A>G (p.Arg254=) rs2135881090
NM_016169.4(SUFU):c.771A>G (p.Lys257=)
NM_016169.4(SUFU):c.774C>A (p.Gly258=) rs2063470954
NM_016169.4(SUFU):c.777C>A (p.Ile259=)
NM_016169.4(SUFU):c.789C>T (p.Gly263=)
NM_016169.4(SUFU):c.78C>T (p.Phe26=) rs2135597954
NM_016169.4(SUFU):c.795C>T (p.Asn265=) rs2135881259
NM_016169.4(SUFU):c.804T>C (p.Gly268=) rs2135881315
NM_016169.4(SUFU):c.81T>G (p.Ala27=)
NM_016169.4(SUFU):c.822C>T (p.Ala274=) rs2135881424
NM_016169.4(SUFU):c.828T>C (p.Asp276=)
NM_016169.4(SUFU):c.831C>T (p.Asp277=) rs1340330498
NM_016169.4(SUFU):c.832C>T (p.Leu278=) rs1060504147
NM_016169.4(SUFU):c.834G>A (p.Leu278=)
NM_016169.4(SUFU):c.834G>C (p.Leu278=) rs773747013
NM_016169.4(SUFU):c.838C>A (p.Arg280=)
NM_016169.4(SUFU):c.840G>T (p.Arg280=)
NM_016169.4(SUFU):c.843C>A (p.Pro281=) rs1590066015
NM_016169.4(SUFU):c.846C>A (p.Pro282=) rs762558038
NM_016169.4(SUFU):c.846C>G (p.Pro282=) rs762558038
NM_016169.4(SUFU):c.84G>C (p.Ser28=) rs376752468
NM_016169.4(SUFU):c.858G>A (p.Glu286=)
NM_016169.4(SUFU):c.867G>A (p.Arg289=)
NM_016169.4(SUFU):c.870C>T (p.Ser290=) rs970618921
NM_016169.4(SUFU):c.876C>T (p.Cys292=)
NM_016169.4(SUFU):c.87C>T (p.Leu29=) rs2135598027
NM_016169.4(SUFU):c.882C>T (p.Gly294=) rs2135882176
NM_016169.4(SUFU):c.885A>C (p.Thr295=)
NM_016169.4(SUFU):c.885A>G (p.Thr295=) rs2135882202
NM_016169.4(SUFU):c.891C>G (p.Pro297=) rs1590066144
NM_016169.4(SUFU):c.900C>G (p.Leu300=)
NM_016169.4(SUFU):c.900C>T (p.Leu300=) rs1174044335
NM_016169.4(SUFU):c.90T>C (p.Phe30=) rs1589970035
NM_016169.4(SUFU):c.910+13A>G
NM_016169.4(SUFU):c.910+15T>G
NM_016169.4(SUFU):c.910+7G>A
NM_016169.4(SUFU):c.910+7G>C
NM_016169.4(SUFU):c.911-10G>A
NM_016169.4(SUFU):c.911-10G>T rs747454071
NM_016169.4(SUFU):c.911-12G>A rs1455480257
NM_016169.4(SUFU):c.911-13G>T
NM_016169.4(SUFU):c.911-14T>C
NM_016169.4(SUFU):c.911-17T>C rs2063494764
NM_016169.4(SUFU):c.911-4G>A
NM_016169.4(SUFU):c.911-4G>T rs2135888490
NM_016169.4(SUFU):c.911-8C>T rs771361493
NM_016169.4(SUFU):c.912C>T (p.Asp304=)
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
NM_016169.4(SUFU):c.927G>A (p.Arg309=)
NM_016169.4(SUFU):c.933C>T (p.Thr311=) rs767071744
NM_016169.4(SUFU):c.939G>A (p.Arg313=)
NM_016169.4(SUFU):c.948C>T (p.Leu316=) rs1236947004
NM_016169.4(SUFU):c.951G>A (p.Glu317=)
NM_016169.4(SUFU):c.969C>G (p.Val323=)
NM_016169.4(SUFU):c.972T>C (p.Leu324=)
NM_016169.4(SUFU):c.978A>C (p.Pro326=)
NM_016169.4(SUFU):c.978A>G (p.Pro326=)
NM_016169.4(SUFU):c.978A>T (p.Pro326=) rs2135888873
NM_016169.4(SUFU):c.987T>G (p.Pro329=) rs906267027
NM_016373.4(WWOX):c.1011G>C (p.Val337=) rs773816992
NM_016373.4(WWOX):c.1021C>T (p.Leu341=) rs201616456
NM_016373.4(WWOX):c.1023G>C (p.Leu341=)
NM_016373.4(WWOX):c.102C>T (p.Tyr34=)
NM_016373.4(WWOX):c.1047C>A (p.Thr349=) rs940453353
NM_016373.4(WWOX):c.1050G>A (p.Lys350=) rs2151386362
NM_016373.4(WWOX):c.1053C>T (p.Ser351=)
NM_016373.4(WWOX):c.1056+13C>A
NM_016373.4(WWOX):c.1056+16C>A rs1045551368
NM_016373.4(WWOX):c.1056+18G>A
NM_016373.4(WWOX):c.1056+18G>C
NM_016373.4(WWOX):c.1056+20C>T
NM_016373.4(WWOX):c.1056+7_1056+9del
NM_016373.4(WWOX):c.1056+8A>T
NM_016373.4(WWOX):c.1057-10G>C
NM_016373.4(WWOX):c.1057-10G>T
NM_016373.4(WWOX):c.1057-13_1057-11del
NM_016373.4(WWOX):c.1057-14_1057-13insTCTC
NM_016373.4(WWOX):c.1057-17_1057-14del rs750753794
NM_016373.4(WWOX):c.1057-18_1057-17dup rs1412456452
NM_016373.4(WWOX):c.1057-20C>T
NM_016373.4(WWOX):c.1057-22_1057-19del
NM_016373.4(WWOX):c.1057-22_1057-20del rs2150867224
NM_016373.4(WWOX):c.1057-7T>C
NM_016373.4(WWOX):c.1057-9G>C
NM_016373.4(WWOX):c.1057-9_1057-6dup rs2150867300
NM_016373.4(WWOX):c.1062G>A (p.Gln354=)
NM_016373.4(WWOX):c.107+10C>G
NM_016373.4(WWOX):c.107+10C>T
NM_016373.4(WWOX):c.107+12G>C
NM_016373.4(WWOX):c.107+13C>T
NM_016373.4(WWOX):c.107+15G>A
NM_016373.4(WWOX):c.107+17G>C
NM_016373.4(WWOX):c.107+7G>T
NM_016373.4(WWOX):c.107+8G>A
NM_016373.4(WWOX):c.1077C>G (p.Thr359=) rs150912992
NM_016373.4(WWOX):c.108-12G>C
NM_016373.4(WWOX):c.108-12_108-11del rs756598479
NM_016373.4(WWOX):c.108-12_108-6del
NM_016373.4(WWOX):c.108-14T>C
NM_016373.4(WWOX):c.108-18T>C
NM_016373.4(WWOX):c.108-19A>T
NM_016373.4(WWOX):c.108-20G>A rs760210735
NM_016373.4(WWOX):c.108-7T>C rs2151665632
NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)
NM_016373.4(WWOX):c.1086T>C (p.Cys362=) rs755448649
NM_016373.4(WWOX):c.1102C>T (p.Leu368=)
NM_016373.4(WWOX):c.1110T>A (p.Gly370=) rs901897952
NM_016373.4(WWOX):c.1110T>G (p.Gly370=)
NM_016373.4(WWOX):c.1113G>A (p.Leu371=)
NM_016373.4(WWOX):c.1113G>T (p.Leu371=) rs2150867604
NM_016373.4(WWOX):c.1119G>C (p.Gly373=)
NM_016373.4(WWOX):c.1128C>T (p.Phe376=) rs1417388410
NM_016373.4(WWOX):c.114C>G (p.Thr38=)
NM_016373.4(WWOX):c.1152C>G (p.Pro384=) rs2051759603
NM_016373.4(WWOX):c.1155A>C (p.Ser385=) rs1414101968
NM_016373.4(WWOX):c.1164T>G (p.Ala388=)
NM_016373.4(WWOX):c.1182C>G (p.Ala394=)
NM_016373.4(WWOX):c.1183C>A (p.Arg395=)
NM_016373.4(WWOX):c.1185G>C (p.Arg395=) rs1296581246
NM_016373.4(WWOX):c.1188C>A (p.Thr396=) rs923268639
NM_016373.4(WWOX):c.1189C>T (p.Leu397=)
NM_016373.4(WWOX):c.1191G>C (p.Leu397=) rs749223740
NM_016373.4(WWOX):c.1197G>T (p.Ala399=) rs376935572
NM_016373.4(WWOX):c.1206G>A (p.Glu402=) rs923748427
NM_016373.4(WWOX):c.1209G>A (p.Arg403=) rs764726398
NM_016373.4(WWOX):c.1218A>G (p.Gln406=)
NM_016373.4(WWOX):c.1230C>A (p.Gly410=)
NM_016373.4(WWOX):c.1230C>G (p.Gly410=) rs778834456
NM_016373.4(WWOX):c.1236G>A (p.Gln412=)
NM_016373.4(WWOX):c.1239C>G (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.1242C>T (p.Gly414=) rs557367276
NM_016373.4(WWOX):c.12G>A (p.Leu4=) rs2151651643
NM_016373.4(WWOX):c.138T>C (p.His46=)
NM_016373.4(WWOX):c.15C>G (p.Arg5=) rs2031625331
NM_016373.4(WWOX):c.160C>A (p.Arg54=) rs587777248
NM_016373.4(WWOX):c.165G>A (p.Val55=)
NM_016373.4(WWOX):c.172+10T>A rs2032295814
NM_016373.4(WWOX):c.172+15G>T
NM_016373.4(WWOX):c.172+17C>G
NM_016373.4(WWOX):c.172+9G>A rs1220647416
NM_016373.4(WWOX):c.173-10T>G rs960259890
NM_016373.4(WWOX):c.173-12C>G
NM_016373.4(WWOX):c.173-14T>G
NM_016373.4(WWOX):c.173-16C>G
NM_016373.4(WWOX):c.173-20C>G
NM_016373.4(WWOX):c.173-4T>G
NM_016373.4(WWOX):c.18C>T (p.Tyr6=)
NM_016373.4(WWOX):c.228T>A (p.Val76=) rs370579498
NM_016373.4(WWOX):c.230+9C>T rs1254974575
NM_016373.4(WWOX):c.231-10T>C
NM_016373.4(WWOX):c.231-16T>C rs376333974
NM_016373.4(WWOX):c.231-17C>A rs372361154
NM_016373.4(WWOX):c.231-17C>T
NM_016373.4(WWOX):c.231-18G>T
NM_016373.4(WWOX):c.231-7T>C
NM_016373.4(WWOX):c.231-8T>G rs776271651
NM_016373.4(WWOX):c.240T>C (p.Asn80=)
NM_016373.4(WWOX):c.252C>G (p.Thr84=)
NM_016373.4(WWOX):c.252C>T (p.Thr84=)
NM_016373.4(WWOX):c.261C>T (p.Asp87=)
NM_016373.4(WWOX):c.276T>C (p.Phe92=)
NM_016373.4(WWOX):c.294G>A (p.Pro98=)
NM_016373.4(WWOX):c.294G>C (p.Pro98=) rs200208343
NM_016373.4(WWOX):c.306C>T (p.Thr102=)
NM_016373.4(WWOX):c.30C>T (p.Asp10=) rs373146723
NM_016373.4(WWOX):c.310C>A (p.Arg104=) rs750226191
NM_016373.4(WWOX):c.333C>T (p.Thr111=)
NM_016373.4(WWOX):c.351C>T (p.Leu117=)
NM_016373.4(WWOX):c.360G>A (p.Arg120=)
NM_016373.4(WWOX):c.36G>A (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>C (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>T (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.375A>G (p.Lys125=)
NM_016373.4(WWOX):c.378G>C (p.Val126=)
NM_016373.4(WWOX):c.409+10T>C rs2151674977
NM_016373.4(WWOX):c.409+16A>G rs12934985
NM_016373.4(WWOX):c.409+16A>T rs12934985
NM_016373.4(WWOX):c.409+16_409+17delinsCA rs2151674999
NM_016373.4(WWOX):c.409+17G>T rs771445250
NM_016373.4(WWOX):c.409+8C>G
NM_016373.4(WWOX):c.409+9T>A
NM_016373.4(WWOX):c.410-14C>T
NM_016373.4(WWOX):c.410-15T>A
NM_016373.4(WWOX):c.410-4A>G rs183410581
NM_016373.4(WWOX):c.410-6C>T rs1488901499
NM_016373.4(WWOX):c.411G>T (p.Gly137=) rs1172090882
NM_016373.4(WWOX):c.423C>G (p.Ala141=)
NM_016373.4(WWOX):c.42T>C (p.Ser14=)
NM_016373.4(WWOX):c.459G>A (p.Leu153=)
NM_016373.4(WWOX):c.45G>A (p.Glu15=) rs770319919
NM_016373.4(WWOX):c.462C>G (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.462C>T (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.468G>A (p.Arg156=)
NM_016373.4(WWOX):c.477A>T (p.Ala159=)
NM_016373.4(WWOX):c.480G>A (p.Arg160=) rs919851150
NM_016373.4(WWOX):c.483G>A (p.Ala161=) rs143067173
NM_016373.4(WWOX):c.495G>C (p.Val165=)
NM_016373.4(WWOX):c.498A>G (p.Ser166=)
NM_016373.4(WWOX):c.513A>G (p.Glu171=) rs1060502728
NM_016373.4(WWOX):c.516+12A>G
NM_016373.4(WWOX):c.516+14T>A rs779863445
NM_016373.4(WWOX):c.516+14TGT[2] rs757933432
NM_016373.4(WWOX):c.516+16T>C
NM_016373.4(WWOX):c.516+19T>A rs2034899735
NM_016373.4(WWOX):c.516+6_516+7delinsCT rs2151735603
NM_016373.4(WWOX):c.517-10C>T
NM_016373.4(WWOX):c.517-11T>C rs2151934076
NM_016373.4(WWOX):c.517-12C>A rs373188700
NM_016373.4(WWOX):c.517-19T>C rs1057518552
NM_016373.4(WWOX):c.517-20T>C rs2151934070
NM_016373.4(WWOX):c.517-4G>A
NM_016373.4(WWOX):c.517-4G>C
NM_016373.4(WWOX):c.517-6T>C
NM_016373.4(WWOX):c.517-7A>G
NM_016373.4(WWOX):c.517-8C>T
NM_016373.4(WWOX):c.517-9T>C
NM_016373.4(WWOX):c.531A>G (p.Val177=) rs1451196383
NM_016373.4(WWOX):c.543C>G (p.Thr181=)
NM_016373.4(WWOX):c.544C>T (p.Leu182=)
NM_016373.4(WWOX):c.552C>G (p.Leu184=) rs199715254
NM_016373.4(WWOX):c.555T>A (p.Ala185=) rs748722105
NM_016373.4(WWOX):c.556C>T (p.Leu186=) rs772539448
NM_016373.4(WWOX):c.558G>A (p.Leu186=) rs1464156122
NM_016373.4(WWOX):c.564T>C (p.Arg188=)
NM_016373.4(WWOX):c.573G>A (p.Gln191=)
NM_016373.4(WWOX):c.588A>C (p.Ala196=)
NM_016373.4(WWOX):c.588A>G (p.Ala196=)
NM_016373.4(WWOX):c.605+10C>A rs201186695
NM_016373.4(WWOX):c.605+12A>T
NM_016373.4(WWOX):c.605+13G>A
NM_016373.4(WWOX):c.605+18G>A
NM_016373.4(WWOX):c.605+7G>A rs900076277
NM_016373.4(WWOX):c.605+7G>C
NM_016373.4(WWOX):c.605+9T>G
NM_016373.4(WWOX):c.606-14A>G
NM_016373.4(WWOX):c.606-18G>A
NM_016373.4(WWOX):c.618G>C (p.Val206=) rs376279847
NM_016373.4(WWOX):c.624G>A (p.Val208=)
NM_016373.4(WWOX):c.624G>T (p.Val208=)
NM_016373.4(WWOX):c.633A>G (p.Ala211=) rs1597215838
NM_016373.4(WWOX):c.63C>T (p.Gly21=)
NM_016373.4(WWOX):c.645T>C (p.Ala215=)
NM_016373.4(WWOX):c.672C>G (p.Gly224=)
NM_016373.4(WWOX):c.681C>T (p.Thr227=)
NM_016373.4(WWOX):c.684C>G (p.Thr228=)
NM_016373.4(WWOX):c.690A>G (p.Gln230=) rs372408512
NM_016373.4(WWOX):c.69G>A (p.Glu23=)
NM_016373.4(WWOX):c.6A>G (p.Ala2=)
NM_016373.4(WWOX):c.702G>A (p.Leu234=) rs2151959991
NM_016373.4(WWOX):c.717T>A (p.Leu239=)
NM_016373.4(WWOX):c.729C>G (p.Leu243=) rs2083042980
NM_016373.4(WWOX):c.72G>A (p.Glu24=) rs1255601873
NM_016373.4(WWOX):c.744C>T (p.Cys248=) rs1597216164
NM_016373.4(WWOX):c.759C>A (p.Ala253=) rs1363794629
NM_016373.4(WWOX):c.759C>T (p.Ala253=)
NM_016373.4(WWOX):c.765C>A (p.Val255=) rs1232507130
NM_016373.4(WWOX):c.765C>G (p.Val255=)
NM_016373.4(WWOX):c.774C>G (p.Val258=) rs1597216285
NM_016373.4(WWOX):c.780A>G (p.Ser260=) rs2083044569
NM_016373.4(WWOX):c.789T>C (p.His263=) rs2083044812
NM_016373.4(WWOX):c.791+15C>A
NM_016373.4(WWOX):c.791+15C>T
NM_016373.4(WWOX):c.791+16A>G rs2083045240
NM_016373.4(WWOX):c.791+18A>G
NM_016373.4(WWOX):c.791+20T>C
NM_016373.4(WWOX):c.792-15T>C rs769065057
NM_016373.4(WWOX):c.792-16A>G
NM_016373.4(WWOX):c.792-19C>T
NM_016373.4(WWOX):c.792-20T>C rs2151385825
NM_016373.4(WWOX):c.792-20T>G
NM_016373.4(WWOX):c.798A>G (p.Thr266=) rs377727422
NM_016373.4(WWOX):c.813C>G (p.Ser271=)
NM_016373.4(WWOX):c.813C>T (p.Ser271=)
NM_016373.4(WWOX):c.81C>A (p.Thr27=)
NM_016373.4(WWOX):c.823C>T (p.Leu275=) rs1272996029
NM_016373.4(WWOX):c.825G>T (p.Leu275=)
NM_016373.4(WWOX):c.840C>T (p.Leu280=)
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)
NM_016373.4(WWOX):c.867G>C (p.Ala289=) rs755002954
NM_016373.4(WWOX):c.871C>T (p.Leu291=) rs1230337512
NM_016373.4(WWOX):c.873G>A (p.Leu291=)
NM_016373.4(WWOX):c.891G>A (p.Lys297=)
NM_016373.4(WWOX):c.903C>T (p.Ile301=)
NM_016373.4(WWOX):c.909C>T (p.Phe303=)
NM_016373.4(WWOX):c.90C>T (p.Gly30=) rs772839022
NM_016373.4(WWOX):c.912C>G (p.Ser304=)
NM_016373.4(WWOX):c.915C>T (p.Asn305=) rs201818301
NM_016373.4(WWOX):c.918G>A (p.Glu306=) rs2151386096
NM_016373.4(WWOX):c.919C>T (p.Leu307=) rs200320711
NM_016373.4(WWOX):c.921G>T (p.Leu307=)
NM_016373.4(WWOX):c.924C>T (p.His308=)
NM_016373.4(WWOX):c.933C>A (p.Leu311=)
NM_016373.4(WWOX):c.936C>T (p.Ser312=) rs2151386149
NM_016373.4(WWOX):c.942C>G (p.Arg314=)
NM_016373.4(WWOX):c.945G>T (p.Gly315=) rs1232491002
NM_016373.4(WWOX):c.954G>C (p.Ser318=)
NM_016373.4(WWOX):c.963G>A (p.Val321=)
NM_016373.4(WWOX):c.969T>C (p.Pro323=)
NM_016373.4(WWOX):c.96T>G (p.Val32=)
NM_016373.4(WWOX):c.972A>C (p.Gly324=)
NM_016373.4(WWOX):c.990C>T (p.Asn330=) rs117209694
NM_016373.4(WWOX):c.993T>A (p.Ile331=)
NM_016373.4(WWOX):c.9G>A (p.Ala3=)
NM_016464.5(TMEM138):c.105T>C (p.Pro35=) rs1370730016
NM_016464.5(TMEM138):c.128+19T>G
NM_016464.5(TMEM138):c.129-10A>G
NM_016464.5(TMEM138):c.129-10dup rs2135157730
NM_016464.5(TMEM138):c.129-19C>T rs2135157682
NM_016464.5(TMEM138):c.12C>T (p.Thr4=) rs376500080
NM_016464.5(TMEM138):c.195C>T (p.Val65=) rs2135158008
NM_016464.5(TMEM138):c.204T>C (p.Ala68=) rs2135158047
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
NM_016464.5(TMEM138):c.231G>A (p.Lys77=) rs2135158146
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
NM_016464.5(TMEM138):c.288T>C (p.His96=)
NM_016464.5(TMEM138):c.300+13G>A rs2135158448
NM_016464.5(TMEM138):c.301-12C>T
NM_016464.5(TMEM138):c.301-13A>G
NM_016464.5(TMEM138):c.301-16C>T
NM_016464.5(TMEM138):c.301-18A>G
NM_016464.5(TMEM138):c.303C>T (p.Asn101=) rs2135162983
NM_016464.5(TMEM138):c.377-10C>G
NM_016464.5(TMEM138):c.377-11C>T rs749034092
NM_016464.5(TMEM138):c.377-19T>C
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
NM_016464.5(TMEM138):c.435C>T (p.His145=)
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
NM_016529.6(ATP8A2):c.535G>A (p.Val179Ile)
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_018319.4(TDP1):c.*89_*90dup rs397721425
NM_018319.4(TDP1):c.*932C>T rs537989252
NM_018718.3(CEP41):c.102C>T (p.Asn34=) rs781793746
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
NM_018718.3(CEP41):c.1062C>T (p.Ala354=) rs782552317
NM_018718.3(CEP41):c.1080C>T (p.Arg360=) rs782746850
NM_018718.3(CEP41):c.1113C>T (p.Pro371=)
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
NM_018718.3(CEP41):c.145+16G>C
NM_018718.3(CEP41):c.145+16G>T rs2117627031
NM_018718.3(CEP41):c.145+7A>G
NM_018718.3(CEP41):c.146-13C>T rs782677555
NM_018718.3(CEP41):c.146-9A>G rs372039618
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
NM_018718.3(CEP41):c.208-5A>T
NM_018718.3(CEP41):c.208-6T>C
NM_018718.3(CEP41):c.208-7C>G rs782769113
NM_018718.3(CEP41):c.208-7C>T rs782769113
NM_018718.3(CEP41):c.258G>A (p.Glu86=) rs1309424611
NM_018718.3(CEP41):c.273G>A (p.Leu91=)
NM_018718.3(CEP41):c.277+10del rs782128369
NM_018718.3(CEP41):c.277+17G>A
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-9A>C
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
NM_018718.3(CEP41):c.33+10A>G
NM_018718.3(CEP41):c.33+16C>T
NM_018718.3(CEP41):c.33+20C>A
NM_018718.3(CEP41):c.33+9C>T
NM_018718.3(CEP41):c.34-14del
NM_018718.3(CEP41):c.34-17A>G
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
NM_018718.3(CEP41):c.411A>G (p.Ser137=) rs1796949890
NM_018718.3(CEP41):c.423-4G>T rs1554417330
NM_018718.3(CEP41):c.423-9C>G
NM_018718.3(CEP41):c.438T>G (p.Val146=)
NM_018718.3(CEP41):c.468G>A (p.Val156=) rs1796891578
NM_018718.3(CEP41):c.513C>T (p.Cys171=) rs922629262
NM_018718.3(CEP41):c.574+7G>C
NM_018718.3(CEP41):c.575-19C>T
NM_018718.3(CEP41):c.633T>C (p.Ile211=)
NM_018718.3(CEP41):c.643-16del rs2117556026
NM_018718.3(CEP41):c.643-7C>G
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=) rs149052906
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
NM_018718.3(CEP41):c.757+16C>T
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
NM_018718.3(CEP41):c.831C>T (p.Ala277=) rs782120276
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.954A>G (p.Gln318=) rs2117551629
NM_018718.3(CEP41):c.97+12T>G
NM_018718.3(CEP41):c.973+16C>A rs2117551370
NM_018718.3(CEP41):c.973+8del rs2117551461
NM_018718.3(CEP41):c.974-11G>T
NM_018718.3(CEP41):c.974-14C>T
NM_018718.3(CEP41):c.974-19TCTT[3]
NM_018718.3(CEP41):c.98-20A>G
NM_018718.3(CEP41):c.98-8C>A rs782606521
NM_018718.3(CEP41):c.98-8C>T
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1]) rs751210873
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_021830.5(TWNK):c.*472GA[2] rs370783985
NM_021830.5(TWNK):c.-306GT[1] rs146265037
NM_022464.5(SIL1):c.-94G>C
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
NM_022464.5(SIL1):c.1029+12_1029+17del
NM_022464.5(SIL1):c.1029+14C>T
NM_022464.5(SIL1):c.1029+15C>T
NM_022464.5(SIL1):c.1030-10C>T
NM_022464.5(SIL1):c.1030-19C>T
NM_022464.5(SIL1):c.1030-6T>G
NM_022464.5(SIL1):c.1030-9G>T
NM_022464.5(SIL1):c.1035C>T (p.Phe345=)
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.105+20A>G
NM_022464.5(SIL1):c.105+8T>C
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
NM_022464.5(SIL1):c.1086G>A (p.Gln362=)
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
NM_022464.5(SIL1):c.1107C>T (p.Leu369=)
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
NM_022464.5(SIL1):c.1263A>G (p.Thr421=) rs1157233880
NM_022464.5(SIL1):c.1275G>A (p.Leu425=)
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1356T>C (p.Ser452=)
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
NM_022464.5(SIL1):c.213C>T (p.His71=)
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
NM_022464.5(SIL1):c.244+11del
NM_022464.5(SIL1):c.244+17T>C
NM_022464.5(SIL1):c.244+8G>A
NM_022464.5(SIL1):c.245-15C>A
NM_022464.5(SIL1):c.255C>T (p.Val85=)
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
NM_022464.5(SIL1):c.270C>T (p.His90=)
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
NM_022464.5(SIL1):c.353+12A>G
NM_022464.5(SIL1):c.366C>T (p.Asn122=)
NM_022464.5(SIL1):c.369C>G (p.Thr123=)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.453+14T>C
NM_022464.5(SIL1):c.454-10C>G
NM_022464.5(SIL1):c.454-8C>G
NM_022464.5(SIL1):c.454-8C>T
NM_022464.5(SIL1):c.471A>T (p.Val157=)
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
NM_022464.5(SIL1):c.60G>A (p.Leu20=)
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+16G>A
NM_022464.5(SIL1):c.645+16G>T
NM_022464.5(SIL1):c.657G>A (p.Ala219=)
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
NM_022464.5(SIL1):c.69C>G (p.Ala23=)
NM_022464.5(SIL1):c.714A>G (p.Thr238=) rs1581036406
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.767+18C>T
NM_022464.5(SIL1):c.767+19G>A
NM_022464.5(SIL1):c.768-15G>T
NM_022464.5(SIL1):c.804A>T (p.Gly268=)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
NM_022464.5(SIL1):c.864+11A>C
NM_022464.5(SIL1):c.864+14C>A
NM_022464.5(SIL1):c.864+20C>G
NM_022464.5(SIL1):c.865-10G>C
NM_022464.5(SIL1):c.865-14G>T
NM_022464.5(SIL1):c.865-15G>A
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
NM_022464.5(SIL1):c.945C>A (p.Val315=)
NM_022464.5(SIL1):c.975G>A (p.Thr325=) rs1187845475
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
NM_024411.5(PDYN):c.405C>T (p.Asp135=) rs147181436
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_032856.5(WDR73):c.353-13C>T
NM_033064.4(ATCAY):c.-424delC rs564678183
NM_033064.5(ATCAY):c.*441G>C rs117035326
NM_033064.5(ATCAY):c.*758C>T rs116954582
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.808G>A (p.Gly270Ser)
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153816.6(SNX14):c.1996-12dup
NM_173500.4(TTBK2):c.-281GCC[5] rs377202784
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu) rs56039839
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr) rs377620628
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*448dup rs72646533
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.10053T>C (p.Thr3351=)
NM_182961.4(SYNE1):c.10071C>G (p.Pro3357=)
NM_182961.4(SYNE1):c.10092G>A (p.Gln3364=) rs2154076978
NM_182961.4(SYNE1):c.10143A>G (p.Lys3381=)
NM_182961.4(SYNE1):c.10182T>C (p.Tyr3394=) rs2154069329
NM_182961.4(SYNE1):c.10195C>A (p.Arg3399=)
NM_182961.4(SYNE1):c.1020G>A (p.Val340=)
NM_182961.4(SYNE1):c.10221T>C (p.Ser3407=)
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10264C>T (p.Leu3422=)
NM_182961.4(SYNE1):c.10269G>C (p.Arg3423=)
NM_182961.4(SYNE1):c.10287C>T (p.Leu3429=)
NM_182961.4(SYNE1):c.10296C>A (p.Ala3432=) rs2096943229
NM_182961.4(SYNE1):c.102A>G (p.Thr34=)
NM_182961.4(SYNE1):c.10300-13A>T
NM_182961.4(SYNE1):c.10300-5T>C rs1295479380
NM_182961.4(SYNE1):c.10332C>T (p.Ser3444=)
NM_182961.4(SYNE1):c.10335G>A (p.Leu3445=)
NM_182961.4(SYNE1):c.10347C>T (p.Ile3449=)
NM_182961.4(SYNE1):c.10356A>G (p.Lys3452=) rs1318434658
NM_182961.4(SYNE1):c.10383C>T (p.Val3461=)
NM_182961.4(SYNE1):c.10444-27_10444-20del
NM_182961.4(SYNE1):c.1047+12A>G
NM_182961.4(SYNE1):c.1047+7T>C
NM_182961.4(SYNE1):c.1048-4_1048-3del rs755509246
NM_182961.4(SYNE1):c.1048-7del rs2154296673
NM_182961.4(SYNE1):c.10488G>A (p.Glu3496=)
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=) rs527448479
NM_182961.4(SYNE1):c.10557A>G (p.Ser3519=)
NM_182961.4(SYNE1):c.10593A>G (p.Thr3531=)
NM_182961.4(SYNE1):c.10608+11C>T
NM_182961.4(SYNE1):c.10608+12T>A
NM_182961.4(SYNE1):c.10614A>G (p.Leu3538=)
NM_182961.4(SYNE1):c.10635G>A (p.Gly3545=)
NM_182961.4(SYNE1):c.10662C>T (p.His3554=)
NM_182961.4(SYNE1):c.10665C>T (p.Thr3555=) rs2154051145
NM_182961.4(SYNE1):c.10788G>T (p.Val3596=)
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
NM_182961.4(SYNE1):c.1086G>A (p.Arg362=)
NM_182961.4(SYNE1):c.10870A>G (p.Arg3624Gly) rs766081119
NM_182961.4(SYNE1):c.10875C>T (p.Thr3625=)
NM_182961.4(SYNE1):c.10879C>A (p.Arg3627Ser) rs149712464
NM_182961.4(SYNE1):c.10880G>A (p.Arg3627His) rs755667715
NM_182961.4(SYNE1):c.10927-14C>T rs2154047106
NM_182961.4(SYNE1):c.10927-19C>T rs765562019
NM_182961.4(SYNE1):c.10956A>G (p.Arg3652=)
NM_182961.4(SYNE1):c.11010C>T (p.His3670=) rs143673038
NM_182961.4(SYNE1):c.11016C>T (p.Asn3672=)
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.11067G>T (p.Leu3689=) rs2154046463
NM_182961.4(SYNE1):c.11073C>T (p.Leu3691=)
NM_182961.4(SYNE1):c.11082+14del rs2154046352
NM_182961.4(SYNE1):c.11082+8G>A
NM_182961.4(SYNE1):c.11083-19T>G
NM_182961.4(SYNE1):c.11091A>C (p.Ile3697=)
NM_182961.4(SYNE1):c.11166C>T (p.Gly3722=)
NM_182961.4(SYNE1):c.11172T>C (p.Thr3724=)
NM_182961.4(SYNE1):c.11248T>C (p.Leu3750=)
NM_182961.4(SYNE1):c.11253+8C>T
NM_182961.4(SYNE1):c.11316G>A (p.Glu3772=)
NM_182961.4(SYNE1):c.11331C>T (p.Tyr3777=)
NM_182961.4(SYNE1):c.11385G>A (p.Glu3795=)
NM_182961.4(SYNE1):c.11391G>A (p.Leu3797=) rs2154039780
NM_182961.4(SYNE1):c.11398C>T (p.Leu3800=)
NM_182961.4(SYNE1):c.11439A>G (p.Lys3813=)
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=) rs146919170
NM_182961.4(SYNE1):c.11538A>G (p.Lys3846=)
NM_182961.4(SYNE1):c.11581-20T>G
NM_182961.4(SYNE1):c.11616A>G (p.Ser3872=)
NM_182961.4(SYNE1):c.11664G>A (p.Gln3888=) rs1563267356
NM_182961.4(SYNE1):c.11667C>T (p.Asp3889=)
NM_182961.4(SYNE1):c.11685A>G (p.Lys3895=) rs774133216
NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=) rs794727886
NM_182961.4(SYNE1):c.1176G>C (p.Val392=)
NM_182961.4(SYNE1):c.117T>C (p.Ser39=)
NM_182961.4(SYNE1):c.1185+8C>T
NM_182961.4(SYNE1):c.1186-14T>A rs1388629828
NM_182961.4(SYNE1):c.1186-15C>A
NM_182961.4(SYNE1):c.1188C>G (p.Leu396=) rs1252508397
NM_182961.4(SYNE1):c.11902-14T>C rs1192832505
NM_182961.4(SYNE1):c.11902-21_11902-19dup
NM_182961.4(SYNE1):c.11913A>G (p.Glu3971=)
NM_182961.4(SYNE1):c.11992C>T (p.Leu3998=)
NM_182961.4(SYNE1):c.12015C>T (p.Asn4005=) rs1370153399
NM_182961.4(SYNE1):c.12018G>T (p.Val4006=)
NM_182961.4(SYNE1):c.12060C>A (p.Ile4020=)
NM_182961.4(SYNE1):c.12079-15A>T
NM_182961.4(SYNE1):c.12168G>A (p.Gln4056=)
NM_182961.4(SYNE1):c.12213A>G (p.Glu4071=)
NM_182961.4(SYNE1):c.12219T>C (p.Ile4073=) rs2154018582
NM_182961.4(SYNE1):c.12225+16A>C
NM_182961.4(SYNE1):c.12226-17A>G
NM_182961.4(SYNE1):c.12234C>T (p.His4078=)
NM_182961.4(SYNE1):c.12267C>T (p.Tyr4089=)
NM_182961.4(SYNE1):c.12270A>G (p.Leu4090=) rs1436148487
NM_182961.4(SYNE1):c.12285C>G (p.Ser4095=)
NM_182961.4(SYNE1):c.12309G>A (p.Ser4103=)
NM_182961.4(SYNE1):c.12345G>A (p.Glu4115=)
NM_182961.4(SYNE1):c.12351+19A>G
NM_182961.4(SYNE1):c.12354T>C (p.Ile4118=)
NM_182961.4(SYNE1):c.12408G>A (p.Lys4136=)
NM_182961.4(SYNE1):c.12444T>C (p.Asp4148=) rs2096403666
NM_182961.4(SYNE1):c.12489G>A (p.Leu4163=)
NM_182961.4(SYNE1):c.12528+8T>C rs1590375315
NM_182961.4(SYNE1):c.12529-18G>A
NM_182961.4(SYNE1):c.12546A>G (p.Leu4182=)
NM_182961.4(SYNE1):c.1254G>A (p.Leu418=)
NM_182961.4(SYNE1):c.1254G>T (p.Leu418=) rs777939640
NM_182961.4(SYNE1):c.12573C>A (p.Thr4191=) rs143851739
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.12606G>A (p.Lys4202=)
NM_182961.4(SYNE1):c.12636T>C (p.Asn4212=)
NM_182961.4(SYNE1):c.1263G>C (p.Ala421=) rs949049150
NM_182961.4(SYNE1):c.12684G>A (p.Leu4228=)
NM_182961.4(SYNE1):c.12684G>C (p.Leu4228=) rs2153982221
NM_182961.4(SYNE1):c.1269G>A (p.Val423=)
NM_182961.4(SYNE1):c.12795-14C>A
NM_182961.4(SYNE1):c.12852A>G (p.Ala4284=)
NM_182961.4(SYNE1):c.12876T>C (p.Ile4292=)
NM_182961.4(SYNE1):c.12897G>A (p.Lys4299=)
NM_182961.4(SYNE1):c.129+7G>A rs1219452466
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.12927T>C (p.Asp4309=)
NM_182961.4(SYNE1):c.12936G>A (p.Glu4312=)
NM_182961.4(SYNE1):c.12948A>G (p.Glu4316=) rs1590242706
NM_182961.4(SYNE1):c.12C>T (p.Ser4=)
NM_182961.4(SYNE1):c.130-13T>G
NM_182961.4(SYNE1):c.13002G>A (p.Arg4334=) rs2096250896
NM_182961.4(SYNE1):c.13023C>G (p.Thr4341=)
NM_182961.4(SYNE1):c.13191G>A (p.Lys4397=) rs2153974179
NM_182961.4(SYNE1):c.13239A>T (p.Ala4413=)
NM_182961.4(SYNE1):c.1323G>A (p.Thr441=) rs748132028
NM_182961.4(SYNE1):c.13257G>A (p.Glu4419=) rs777483692
NM_182961.4(SYNE1):c.13323G>T (p.Val4441=) rs770562637
NM_182961.4(SYNE1):c.13341C>T (p.Tyr4447=)
NM_182961.4(SYNE1):c.13347C>T (p.Asn4449=)
NM_182961.4(SYNE1):c.13359C>T (p.Ser4453=)
NM_182961.4(SYNE1):c.1338T>C (p.Leu446=)
NM_182961.4(SYNE1):c.13416T>C (p.His4472=)
NM_182961.4(SYNE1):c.13422A>G (p.Arg4474=) rs1590231826
NM_182961.4(SYNE1):c.13443C>T (p.His4481=)
NM_182961.4(SYNE1):c.1351-15T>A rs750754911
NM_182961.4(SYNE1):c.1351-20T>A
NM_182961.4(SYNE1):c.1351-6T>C rs1441507558
NM_182961.4(SYNE1):c.13536A>T (p.Gly4512=)
NM_182961.4(SYNE1):c.13545C>A (p.Ala4515=)
NM_182961.4(SYNE1):c.13545C>T (p.Ala4515=) rs2153973054
NM_182961.4(SYNE1):c.13554C>G (p.Arg4518=) rs115535983
NM_182961.4(SYNE1):c.13626C>T (p.Val4542=) rs766469216
NM_182961.4(SYNE1):c.13725C>T (p.Cys4575=)
NM_182961.4(SYNE1):c.13752T>C (p.Val4584=)
NM_182961.4(SYNE1):c.13818A>G (p.Gln4606=)
NM_182961.4(SYNE1):c.13845T>C (p.Tyr4615=)
NM_182961.4(SYNE1):c.13863G>T (p.Thr4621=)
NM_182961.4(SYNE1):c.13884C>A (p.Thr4628=)
NM_182961.4(SYNE1):c.13893A>G (p.Pro4631=)
NM_182961.4(SYNE1):c.13902T>C (p.Asn4634=)
NM_182961.4(SYNE1):c.13998C>G (p.Val4666=)
NM_182961.4(SYNE1):c.14052C>T (p.Thr4684=)
NM_182961.4(SYNE1):c.14061G>T (p.Leu4687=) rs3734365
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.1413T>C (p.Ser471=)
NM_182961.4(SYNE1):c.1419C>T (p.Asn473=)
NM_182961.4(SYNE1):c.14226C>T (p.Ser4742=) rs2153970972
NM_182961.4(SYNE1):c.1422G>C (p.Gly474=)
NM_182961.4(SYNE1):c.14247A>G (p.Pro4749=)
NM_182961.4(SYNE1):c.14331C>T (p.Thr4777=) rs768076321
NM_182961.4(SYNE1):c.14439G>A (p.Glu4813=)
NM_182961.4(SYNE1):c.14508C>T (p.Thr4836=)
NM_182961.4(SYNE1):c.14565G>A (p.Arg4855=)
NM_182961.4(SYNE1):c.14571G>A (p.Gln4857=) rs1327323805
NM_182961.4(SYNE1):c.1458C>A (p.Ala486=)
NM_182961.4(SYNE1):c.14619T>G (p.Gly4873=) rs1355049690
NM_182961.4(SYNE1):c.1463+17A>G
NM_182961.4(SYNE1):c.14664C>T (p.Asp4888=)
NM_182961.4(SYNE1):c.14739A>G (p.Leu4913=)
NM_182961.4(SYNE1):c.14751G>A (p.Leu4917=) rs769489729
NM_182961.4(SYNE1):c.14808C>T (p.Ser4936=) rs886044346
NM_182961.4(SYNE1):c.14829G>T (p.Ala4943=)
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14856C>T (p.Phe4952=)
NM_182961.4(SYNE1):c.14883G>C (p.Ala4961=) rs539549948
NM_182961.4(SYNE1):c.14928C>T (p.Asp4976=) rs2153968669
NM_182961.4(SYNE1):c.14955+19C>T
NM_182961.4(SYNE1):c.14955+7A>G
NM_182961.4(SYNE1):c.14956-14T>G rs368344443
NM_182961.4(SYNE1):c.1498C>T (p.Leu500=)
NM_182961.4(SYNE1):c.1500A>G (p.Leu500=)
NM_182961.4(SYNE1):c.15045G>A (p.Leu5015=) rs2153955529
NM_182961.4(SYNE1):c.1516T>C (p.Leu506=) rs2154279133
NM_182961.4(SYNE1):c.15279G>A (p.Val5093=)
NM_182961.4(SYNE1):c.15294-14T>C
NM_182961.4(SYNE1):c.15294-15T>C rs2153953166
NM_182961.4(SYNE1):c.15363A>G (p.Glu5121=) rs2153952873
NM_182961.4(SYNE1):c.1539C>G (p.Leu513=)
NM_182961.4(SYNE1):c.1539C>T (p.Leu513=)
NM_182961.4(SYNE1):c.153C>T (p.Asp51=) rs779081280
NM_182961.4(SYNE1):c.15453G>A (p.Val5151=)
NM_182961.4(SYNE1):c.15516C>G (p.Thr5172=) rs777234795
NM_182961.4(SYNE1):c.15516C>T (p.Thr5172=) rs777234795
NM_182961.4(SYNE1):c.15540C>G (p.Thr5180=) rs748254961
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.15561C>A (p.Thr5187=) rs780148867
NM_182961.4(SYNE1):c.15561C>T (p.Thr5187=)
NM_182961.4(SYNE1):c.1557A>G (p.Ala519=)
NM_182961.4(SYNE1):c.15618G>A (p.Leu5206=) rs143034606
NM_182961.4(SYNE1):c.15636G>A (p.Glu5212=)
NM_182961.4(SYNE1):c.1563A>G (p.Ser521=)
NM_182961.4(SYNE1):c.15657+19G>A
NM_182961.4(SYNE1):c.15657+7T>G
NM_182961.4(SYNE1):c.15658-12A>G
NM_182961.4(SYNE1):c.15658-16G>A
NM_182961.4(SYNE1):c.15729G>A (p.Ser5243=) rs1417590001
NM_182961.4(SYNE1):c.15750T>A (p.Leu5250=) rs779480129
NM_182961.4(SYNE1):c.15771C>T (p.Phe5257=) rs763330101
NM_182961.4(SYNE1):c.15774T>A (p.Val5258=) rs2095952504
NM_182961.4(SYNE1):c.15798G>A (p.Ser5266=)
NM_182961.4(SYNE1):c.15816G>C (p.Arg5272=) rs762050069
NM_182961.4(SYNE1):c.15849C>G (p.Ala5283=)
NM_182961.4(SYNE1):c.15849C>T (p.Ala5283=) rs748953708
NM_182961.4(SYNE1):c.15858C>G (p.Thr5286=)
NM_182961.4(SYNE1):c.15897C>T (p.Ala5299=) rs1590061246
NM_182961.4(SYNE1):c.15918-15G>C
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=) rs771982103
NM_182961.4(SYNE1):c.16083+16_16083+18del rs756884141
NM_182961.4(SYNE1):c.16083+19A>G
NM_182961.4(SYNE1):c.16084-11C>A
NM_182961.4(SYNE1):c.16084-13A>G
NM_182961.4(SYNE1):c.16156T>C (p.Leu5386=) rs2095864787
NM_182961.4(SYNE1):c.1617T>C (p.Leu539=) rs886043491
NM_182961.4(SYNE1):c.16236+7C>T
NM_182961.4(SYNE1):c.1623A>G (p.Gln541=)
NM_182961.4(SYNE1):c.16257A>G (p.Glu5419=)
NM_182961.4(SYNE1):c.16278G>T (p.Thr5426=)
NM_182961.4(SYNE1):c.16294C>A (p.Arg5432=) rs575137601
NM_182961.4(SYNE1):c.1632+12G>A
NM_182961.4(SYNE1):c.1632+7C>A rs779081729
NM_182961.4(SYNE1):c.16326A>G (p.Thr5442=)
NM_182961.4(SYNE1):c.16383C>T (p.Asp5461=)
NM_182961.4(SYNE1):c.16390-6A>G rs886043083
NM_182961.4(SYNE1):c.16410T>C (p.Asp5470=)
NM_182961.4(SYNE1):c.16434A>G (p.Glu5478=)
NM_182961.4(SYNE1):c.16443A>C (p.Ala5481=) rs1255821455
NM_182961.4(SYNE1):c.16461G>A (p.Leu5487=)
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16551T>C (p.Asn5517=)
NM_182961.4(SYNE1):c.16573-11T>C
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
NM_182961.4(SYNE1):c.16578A>G (p.Ala5526=) rs1589922810
NM_182961.4(SYNE1):c.16584T>C (p.His5528=)
NM_182961.4(SYNE1):c.16618T>C (p.Leu5540=) rs2153893153
NM_182961.4(SYNE1):c.16662T>C (p.Ile5554=) rs2153892983
NM_182961.4(SYNE1):c.16711-4C>G rs2153837083
NM_182961.4(SYNE1):c.16746G>A (p.Glu5582=)
NM_182961.4(SYNE1):c.16764G>A (p.Glu5588=)
NM_182961.4(SYNE1):c.16809T>C (p.Ser5603=)
NM_182961.4(SYNE1):c.1680C>T (p.Tyr560=)
NM_182961.4(SYNE1):c.16842G>A (p.Glu5614=)
NM_182961.4(SYNE1):c.16849C>A (p.Arg5617=)
NM_182961.4(SYNE1):c.16897-20C>T
NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=) rs1554410681
NM_182961.4(SYNE1):c.16929G>A (p.Lys5643=)
NM_182961.4(SYNE1):c.16942T>C (p.Leu5648=)
NM_182961.4(SYNE1):c.16963C>T (p.Leu5655=)
NM_182961.4(SYNE1):c.16974A>G (p.Pro5658=) rs771166232
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) rs145899734
NM_182961.4(SYNE1):c.17001G>A (p.Glu5667=) rs2153836703
NM_182961.4(SYNE1):c.17019+7C>T rs2095511412
NM_182961.4(SYNE1):c.1701T>C (p.Ala567=)
NM_182961.4(SYNE1):c.17020-10G>A rs1307856395
NM_182961.4(SYNE1):c.17020-12T>G rs1236300785
NM_182961.4(SYNE1):c.17020-9C>A rs2153836238
NM_182961.4(SYNE1):c.17067G>A (p.Val5689=)
NM_182961.4(SYNE1):c.17067G>C (p.Val5689=)
NM_182961.4(SYNE1):c.17079G>A (p.Gln5693=)
NM_182961.4(SYNE1):c.17121T>G (p.Pro5707=)
NM_182961.4(SYNE1):c.17133T>G (p.Ala5711=) rs2153836101
NM_182961.4(SYNE1):c.17145G>A (p.Leu5715=)
NM_182961.4(SYNE1):c.17161C>A (p.Arg5721=) rs138941941
NM_182961.4(SYNE1):c.17202+16C>T
NM_182961.4(SYNE1):c.17203-15T>G
NM_182961.4(SYNE1):c.17203-3A>T rs1156531105
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-8T>C
NM_182961.4(SYNE1):c.17226A>G (p.Gln5742=)
NM_182961.4(SYNE1):c.1729+8A>C
NM_182961.4(SYNE1):c.17322G>A (p.Leu5774=) rs752995421
NM_182961.4(SYNE1):c.17346+16G>A
NM_182961.4(SYNE1):c.17346+17C>T
NM_182961.4(SYNE1):c.17346+18G>A
NM_182961.4(SYNE1):c.17347-5C>T rs886043152
NM_182961.4(SYNE1):c.17367G>A (p.Lys5789=)
NM_182961.4(SYNE1):c.17427C>T (p.Ala5809=)
NM_182961.4(SYNE1):c.17448G>C (p.Leu5816=)
NM_182961.4(SYNE1):c.17466G>A (p.Glu5822=)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17484A>G (p.Thr5828=)
NM_182961.4(SYNE1):c.17496T>C (p.Asp5832=)
NM_182961.4(SYNE1):c.17499G>A (p.Gly5833=) rs754642929
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=) rs775771199
NM_182961.4(SYNE1):c.17529C>T (p.Pro5843=) rs775771199
NM_182961.4(SYNE1):c.17541+12G>T
NM_182961.4(SYNE1):c.17541+13_17541+15del
NM_182961.4(SYNE1):c.17541+17T>A
NM_182961.4(SYNE1):c.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17586G>A (p.Glu5862=) rs186716473
NM_182961.4(SYNE1):c.17610C>T (p.Asn5870=)
NM_182961.4(SYNE1):c.17652T>C (p.Pro5884=)
NM_182961.4(SYNE1):c.17661T>C (p.Asn5887=)
NM_182961.4(SYNE1):c.17683-18T>C
NM_182961.4(SYNE1):c.17703C>T (p.Ala5901=)
NM_182961.4(SYNE1):c.1770C>T (p.Thr590=)
NM_182961.4(SYNE1):c.17716A>C (p.Arg5906=) rs1178186821
NM_182961.4(SYNE1):c.17733T>G (p.Ala5911=) rs1240369601
NM_182961.4(SYNE1):c.1773C>T (p.Thr591=)
NM_182961.4(SYNE1):c.17748C>T (p.Pro5916=)
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=) rs997194150
NM_182961.4(SYNE1):c.17796C>T (p.Ser5932=) rs531884117
NM_182961.4(SYNE1):c.17839T>C (p.Leu5947=) rs2153785123
NM_182961.4(SYNE1):c.17851-11T>A
NM_182961.4(SYNE1):c.17851-6G>A
NM_182961.4(SYNE1):c.17865G>A (p.Gln5955=)
NM_182961.4(SYNE1):c.17925C>A (p.Ile5975=)
NM_182961.4(SYNE1):c.17931G>A (p.Thr5977=)
NM_182961.4(SYNE1):c.17943C>T (p.Ala5981=)
NM_182961.4(SYNE1):c.1794A>G (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.17964G>A (p.Glu5988=) rs1589457034
NM_182961.4(SYNE1):c.18012+12del
NM_182961.4(SYNE1):c.18013-11C>T
NM_182961.4(SYNE1):c.18016T>C (p.Leu6006=) rs1589316417
NM_182961.4(SYNE1):c.18039C>G (p.Leu6013=)
NM_182961.4(SYNE1):c.18078G>A (p.Glu6026=)
NM_182961.4(SYNE1):c.180T>A (p.Gly60=) rs761395846
NM_182961.4(SYNE1):c.180T>C (p.Gly60=) rs761395846
NM_182961.4(SYNE1):c.180T>G (p.Gly60=) rs761395846
NM_182961.4(SYNE1):c.18147C>T (p.Val6049=)
NM_182961.4(SYNE1):c.18186G>C (p.Ser6062=) rs1057523204
NM_182961.4(SYNE1):c.18202T>C (p.Leu6068=) rs995318683
NM_182961.4(SYNE1):c.18208-26_18208-12del
NM_182961.4(SYNE1):c.18240G>A (p.Arg6080=) rs567954466
NM_182961.4(SYNE1):c.18259A>C (p.Arg6087=) rs2153724903
NM_182961.4(SYNE1):c.18276C>T (p.Ala6092=) rs2153724828
NM_182961.4(SYNE1):c.18381+12G>C rs1405193041
NM_182961.4(SYNE1):c.18381+9dup rs1160319452
NM_182961.4(SYNE1):c.18382-19_18382-17dup rs1379525352
NM_182961.4(SYNE1):c.18382-9T>C
NM_182961.4(SYNE1):c.18414G>A (p.Val6138=)
NM_182961.4(SYNE1):c.18447C>T (p.Asn6149=) rs374468447
NM_182961.4(SYNE1):c.18459G>A (p.Glu6153=)
NM_182961.4(SYNE1):c.18486C>G (p.Ala6162=) rs140168690
NM_182961.4(SYNE1):c.18528G>C (p.Leu6176=)
NM_182961.4(SYNE1):c.18537G>T (p.Leu6179=)
NM_182961.4(SYNE1):c.18573+13G>C
NM_182961.4(SYNE1):c.18574-11G>A rs1477560269
NM_182961.4(SYNE1):c.18574-11G>C
NM_182961.4(SYNE1):c.18574-12C>T
NM_182961.4(SYNE1):c.18576A>G (p.Gly6192=) rs1267116175
NM_182961.4(SYNE1):c.18588G>A (p.Glu6196=)
NM_182961.4(SYNE1):c.18633C>G (p.Gly6211=)
NM_182961.4(SYNE1):c.186A>G (p.Lys62=) rs768365924
NM_182961.4(SYNE1):c.18705+15A>G
NM_182961.4(SYNE1):c.18705+7T>C rs2153679057
NM_182961.4(SYNE1):c.18706-12T>C
NM_182961.4(SYNE1):c.18706-15C>T
NM_182961.4(SYNE1):c.18720A>G (p.Glu6240=)
NM_182961.4(SYNE1):c.18726C>T (p.Ala6242=)
NM_182961.4(SYNE1):c.18759T>C (p.Ser6253=) rs2153673156
NM_182961.4(SYNE1):c.18789G>T (p.Ser6263=)
NM_182961.4(SYNE1):c.18807T>C (p.Gly6269=) rs1235198872
NM_182961.4(SYNE1):c.18815+8T>C rs2153672915
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
NM_182961.4(SYNE1):c.18844T>C (p.Leu6282=)
NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=) rs776505129
NM_182961.4(SYNE1):c.18864A>G (p.Lys6288=)
NM_182961.4(SYNE1):c.1890G>A (p.Glu630=)
NM_182961.4(SYNE1):c.18945T>C (p.Asn6315=)
NM_182961.4(SYNE1):c.18954A>G (p.Glu6318=)
NM_182961.4(SYNE1):c.18973-12G>A
NM_182961.4(SYNE1):c.18981C>T (p.Ser6327=)
NM_182961.4(SYNE1):c.19071A>T (p.Gly6357=)
NM_182961.4(SYNE1):c.19092G>A (p.Glu6364=)
NM_182961.4(SYNE1):c.19104+11G>A rs1210886004
NM_182961.4(SYNE1):c.19104+18G>A
NM_182961.4(SYNE1):c.19105-15T>C
NM_182961.4(SYNE1):c.19105-16G>A
NM_182961.4(SYNE1):c.19105-19C>T
NM_182961.4(SYNE1):c.19155T>C (p.Asp6385=) rs2153623542
NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)
NM_182961.4(SYNE1):c.19170C>G (p.Thr6390=)
NM_182961.4(SYNE1):c.19176T>G (p.Thr6392=) rs2153623427
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=) rs2090636581
NM_182961.4(SYNE1):c.19218A>C (p.Ala6406=) rs199869602
NM_182961.4(SYNE1):c.19260+10G>A
NM_182961.4(SYNE1):c.19260+20C>T
NM_182961.4(SYNE1):c.19261-19G>T
NM_182961.4(SYNE1):c.19293A>G (p.Glu6431=)
NM_182961.4(SYNE1):c.1932+17C>A
NM_182961.4(SYNE1):c.1932+19A>G
NM_182961.4(SYNE1):c.1932+9G>T rs746181375
NM_182961.4(SYNE1):c.1933-6G>T rs1451399398
NM_182961.4(SYNE1):c.1933-8T>C rs2154267701
NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=) rs749079132
NM_182961.4(SYNE1):c.19365A>G (p.Glu6455=) rs886044212
NM_182961.4(SYNE1):c.19410A>G (p.Ser6470=)
NM_182961.4(SYNE1):c.19422A>G (p.Gln6474=)
NM_182961.4(SYNE1):c.19446A>G (p.Arg6482=)
NM_182961.4(SYNE1):c.19459C>T (p.Leu6487=)
NM_182961.4(SYNE1):c.19467C>T (p.Phe6489=) rs919585920
NM_182961.4(SYNE1):c.19470+13T>A
NM_182961.4(SYNE1):c.19470+14T>C
NM_182961.4(SYNE1):c.19470+14_19470+16del
NM_182961.4(SYNE1):c.19470+8A>G
NM_182961.4(SYNE1):c.19471-13C>T rs1161750776
NM_182961.4(SYNE1):c.19488G>A (p.Leu6496=) rs1393141949
NM_182961.4(SYNE1):c.19572+15C>T
NM_182961.4(SYNE1):c.19584G>A (p.Gln6528=)
NM_182961.4(SYNE1):c.19627T>C (p.Leu6543=)
NM_182961.4(SYNE1):c.19665G>A (p.Pro6555=)
NM_182961.4(SYNE1):c.19686G>A (p.Lys6562=) rs1562462293
NM_182961.4(SYNE1):c.19692+7C>G
NM_182961.4(SYNE1):c.19693-19T>C
NM_182961.4(SYNE1):c.19693-20T>C rs2153563935
NM_182961.4(SYNE1):c.19779G>A (p.Arg6593=)
NM_182961.4(SYNE1):c.19812T>C (p.Thr6604=)
NM_182961.4(SYNE1):c.19815T>C (p.Gly6605=) rs776418227
NM_182961.4(SYNE1):c.19863G>A (p.Glu6621=) rs2153563113
NM_182961.4(SYNE1):c.1986T>C (p.Asp662=) rs754185293
NM_182961.4(SYNE1):c.19893+18G>T rs1306460593
NM_182961.4(SYNE1):c.19894-17T>C
NM_182961.4(SYNE1):c.19894-20T>C
NM_182961.4(SYNE1):c.19914A>G (p.Glu6638=)
NM_182961.4(SYNE1):c.19968C>A (p.Val6656=)
NM_182961.4(SYNE1):c.19996C>T (p.Leu6666=)
NM_182961.4(SYNE1):c.2004T>A (p.Ile668=)
NM_182961.4(SYNE1):c.20067+18A>C rs186247729
NM_182961.4(SYNE1):c.20067+18A>G
NM_182961.4(SYNE1):c.20067+18A>T
NM_182961.4(SYNE1):c.20068-13G>A
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=) rs141263831
NM_182961.4(SYNE1):c.20082G>A (p.Leu6694=)
NM_182961.4(SYNE1):c.20136C>T (p.Ile6712=)
NM_182961.4(SYNE1):c.20178T>A (p.Ile6726=) rs1588441873
NM_182961.4(SYNE1):c.20190A>G (p.Thr6730=) rs1244012304
NM_182961.4(SYNE1):c.20199+17G>T
NM_182961.4(SYNE1):c.20199+18C>A
NM_182961.4(SYNE1):c.20200-8T>C
NM_182961.4(SYNE1):c.20208A>G (p.Lys6736=) rs1020385567
NM_182961.4(SYNE1):c.20346A>G (p.Lys6782=)
NM_182961.4(SYNE1):c.2037G>A (p.Leu679=) rs1593222147
NM_182961.4(SYNE1):c.20396+18T>C rs2153534765
NM_182961.4(SYNE1):c.20397-11A>G
NM_182961.4(SYNE1):c.20397-16A>C
NM_182961.4(SYNE1):c.20397-16A>G
NM_182961.4(SYNE1):c.20419C>T (p.Leu6807=)
NM_182961.4(SYNE1):c.20460T>C (p.Phe6820=)
NM_182961.4(SYNE1):c.20514T>C (p.His6838=) rs2153528771
NM_182961.4(SYNE1):c.20529+7C>A
NM_182961.4(SYNE1):c.20530-16T>A rs2083385032
NM_182961.4(SYNE1):c.20530-19A>G
NM_182961.4(SYNE1):c.20530-9T>A rs2153525429
NM_182961.4(SYNE1):c.20580G>A (p.Leu6860=) rs188203038
NM_182961.4(SYNE1):c.20580G>C (p.Leu6860=)
NM_182961.4(SYNE1):c.20586T>C (p.Thr6862=) rs2083373670
NM_182961.4(SYNE1):c.20619C>T (p.Asp6873=)
NM_182961.4(SYNE1):c.20629C>T (p.Leu6877=)
NM_182961.4(SYNE1):c.2067G>A (p.Arg689=) rs2154267528
NM_182961.4(SYNE1):c.20757C>T (p.Val6919=)
NM_182961.4(SYNE1):c.20796G>A (p.Lys6932=)
NM_182961.4(SYNE1):c.20829C>T (p.Tyr6943=) rs1327298373
NM_182961.4(SYNE1):c.20863-12dup
NM_182961.4(SYNE1):c.20863-7T>G
NM_182961.4(SYNE1):c.20919C>T (p.Ser6973=)
NM_182961.4(SYNE1):c.20961T>C (p.Ser6987=)
NM_182961.4(SYNE1):c.2097+20A>C rs201761319
NM_182961.4(SYNE1):c.2097+20A>G
NM_182961.4(SYNE1):c.2098-13C>G
NM_182961.4(SYNE1):c.20985A>G (p.Gln6995=)
NM_182961.4(SYNE1):c.21039+12G>A
NM_182961.4(SYNE1):c.21039+17C>T
NM_182961.4(SYNE1):c.21039+8A>G
NM_182961.4(SYNE1):c.21040-6G>A
NM_182961.4(SYNE1):c.21048G>T (p.Leu7016=)
NM_182961.4(SYNE1):c.21069T>A (p.Ser7023=)
NM_182961.4(SYNE1):c.210G>A (p.Leu70=)
NM_182961.4(SYNE1):c.21141A>G (p.Gln7047=)
NM_182961.4(SYNE1):c.21181C>T (p.Leu7061=)
NM_182961.4(SYNE1):c.21279A>G (p.Lys7093=)
NM_182961.4(SYNE1):c.21351+20G>A
NM_182961.4(SYNE1):c.21352-20A>G
NM_182961.4(SYNE1):c.21352-7T>G rs756684680
NM_182961.4(SYNE1):c.21373C>T (p.Leu7125=)
NM_182961.4(SYNE1):c.21384G>A (p.Val7128=)
NM_182961.4(SYNE1):c.21405C>T (p.His7135=) rs2153478766
NM_182961.4(SYNE1):c.21414C>G (p.Ala7138=) rs144904215
NM_182961.4(SYNE1):c.21435C>T (p.Tyr7145=)
NM_182961.4(SYNE1):c.21447C>T (p.Ala7149=)
NM_182961.4(SYNE1):c.21453C>T (p.Tyr7151=)
NM_182961.4(SYNE1):c.21462C>T (p.Ser7154=)
NM_182961.4(SYNE1):c.21522+14T>C
NM_182961.4(SYNE1):c.21522+18C>T rs1588175016
NM_182961.4(SYNE1):c.21523-11T>C
NM_182961.4(SYNE1):c.21523-6G>C rs774046000
NM_182961.4(SYNE1):c.21594A>G (p.Leu7198=)
NM_182961.4(SYNE1):c.21711A>G (p.Leu7237=)
NM_182961.4(SYNE1):c.21717G>A (p.Gln7239=)
NM_182961.4(SYNE1):c.21793C>T (p.Leu7265=) rs2153463509
NM_182961.4(SYNE1):c.2181C>G (p.Ala727=) rs1593209190
NM_182961.4(SYNE1):c.21843A>G (p.Thr7281=) rs1562279050
NM_182961.4(SYNE1):c.21861+9A>G
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=) rs749164483
NM_182961.4(SYNE1):c.21972G>A (p.Ser7324=)
NM_182961.4(SYNE1):c.21981C>G (p.Leu7327=) rs148868250
NM_182961.4(SYNE1):c.21981C>T (p.Leu7327=) rs148868250
NM_182961.4(SYNE1):c.21984T>A (p.Ser7328=) rs779374633
NM_182961.4(SYNE1):c.22023C>T (p.Cys7341=)
NM_182961.4(SYNE1):c.22035T>C (p.Thr7345=)
NM_182961.4(SYNE1):c.22044+14A>G
NM_182961.4(SYNE1):c.22044+8G>T
NM_182961.4(SYNE1):c.22045-11T>C
NM_182961.4(SYNE1):c.22128A>G (p.Gln7376=)
NM_182961.4(SYNE1):c.22131G>A (p.Gly7377=) rs1419205712
NM_182961.4(SYNE1):c.2214T>C (p.Ser738=)
NM_182961.4(SYNE1):c.22191+15A>T
NM_182961.4(SYNE1):c.22191+20A>T
NM_182961.4(SYNE1):c.22191+7G>A
NM_182961.4(SYNE1):c.22191+7G>T
NM_182961.4(SYNE1):c.22194A>T (p.Gly7398=)
NM_182961.4(SYNE1):c.22215C>T (p.Ser7405=) rs560939744
NM_182961.4(SYNE1):c.22227T>C (p.Asp7409=)
NM_182961.4(SYNE1):c.2230C>T (p.Leu744=)
NM_182961.4(SYNE1):c.22346+12A>C
NM_182961.4(SYNE1):c.22346+7T>A
NM_182961.4(SYNE1):c.22347-10G>T
NM_182961.4(SYNE1):c.22347-13T>C
NM_182961.4(SYNE1):c.22347-20C>T
NM_182961.4(SYNE1):c.22347-6T>G rs886044017
NM_182961.4(SYNE1):c.22347-9T>A rs535951024
NM_182961.4(SYNE1):c.22356G>A (p.Gln7452=)
NM_182961.4(SYNE1):c.22476A>G (p.Glu7492=)
NM_182961.4(SYNE1):c.22485A>G (p.Arg7495=)
NM_182961.4(SYNE1):c.22494+10A>G
NM_182961.4(SYNE1):c.22494+19T>A
NM_182961.4(SYNE1):c.22494+7del
NM_182961.4(SYNE1):c.22495-10dup rs767966157
NM_182961.4(SYNE1):c.22495-18_22495-16del rs1438172102
NM_182961.4(SYNE1):c.225+16T>C
NM_182961.4(SYNE1):c.225+16T>G
NM_182961.4(SYNE1):c.2250+14G>T
NM_182961.4(SYNE1):c.22503A>G (p.Gln7501=)
NM_182961.4(SYNE1):c.2251-15C>T rs758553708
NM_182961.4(SYNE1):c.22515C>T (p.Phe7505=)
NM_182961.4(SYNE1):c.22536C>T (p.His7512=)
NM_182961.4(SYNE1):c.22551T>C (p.Asp7517=)
NM_182961.4(SYNE1):c.22590-5A>G
NM_182961.4(SYNE1):c.226-12C>T
NM_182961.4(SYNE1):c.226-7T>G
NM_182961.4(SYNE1):c.22749C>G (p.Ser7583=)
NM_182961.4(SYNE1):c.22764T>C (p.Ser7588=) rs2153408930
NM_182961.4(SYNE1):c.22806C>T (p.Thr7602=)
NM_182961.4(SYNE1):c.22824+13_22824+15del
NM_182961.4(SYNE1):c.22824+17A>G
NM_182961.4(SYNE1):c.22824+9C>T
NM_182961.4(SYNE1):c.22825-8C>A
NM_182961.4(SYNE1):c.22836A>G (p.Lys7612=)
NM_182961.4(SYNE1):c.22839G>A (p.Val7613=) rs1048202250
NM_182961.4(SYNE1):c.22842T>C (p.Phe7614=) rs2076502631
NM_182961.4(SYNE1):c.22863C>T (p.Tyr7621=)
NM_182961.4(SYNE1):c.22872T>C (p.Thr7624=)
NM_182961.4(SYNE1):c.22878G>A (p.Glu7626=)
NM_182961.4(SYNE1):c.2292G>A (p.Lys764=)
NM_182961.4(SYNE1):c.23007C>T (p.Ala7669=)
NM_182961.4(SYNE1):c.23020-7A>G
NM_182961.4(SYNE1):c.23020-9C>G
NM_182961.4(SYNE1):c.23076C>T (p.Phe7692=)
NM_182961.4(SYNE1):c.23091G>A (p.Ser7697=)
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=) rs899533876
NM_182961.4(SYNE1):c.23145+10T>C
NM_182961.4(SYNE1):c.23146-10T>C rs2153229720
NM_182961.4(SYNE1):c.23146-7T>C
NM_182961.4(SYNE1):c.23146-7del rs770820426
NM_182961.4(SYNE1):c.23146-9T>C
NM_182961.4(SYNE1):c.23211C>T (p.Thr7737=)
NM_182961.4(SYNE1):c.23214C>A (p.Leu7738=) rs543882781
NM_182961.4(SYNE1):c.23271G>T (p.Leu7757=)
NM_182961.4(SYNE1):c.23301+13C>A
NM_182961.4(SYNE1):c.23301+13C>T
NM_182961.4(SYNE1):c.23301+20T>A rs2153229361
NM_182961.4(SYNE1):c.23302-18C>T rs2153180743
NM_182961.4(SYNE1):c.23302-4T>C
NM_182961.4(SYNE1):c.23302-5T>C
NM_182961.4(SYNE1):c.23367C>T (p.Asn7789=)
NM_182961.4(SYNE1):c.23460+10G>C
NM_182961.4(SYNE1):c.23460+10G>T rs376484866
NM_182961.4(SYNE1):c.23460+11C>G
NM_182961.4(SYNE1):c.23461-11T>G
NM_182961.4(SYNE1):c.23547A>G (p.Glu7849=) rs1057522829
NM_182961.4(SYNE1):c.23550C>T (p.Ser7850=)
NM_182961.4(SYNE1):c.23577G>A (p.Leu7859=) rs2153132926
NM_182961.4(SYNE1):c.2361G>A (p.Ala787=)
NM_182961.4(SYNE1):c.23627+20A>G
NM_182961.4(SYNE1):c.23628-11T>C
NM_182961.4(SYNE1):c.23628-16C>T
NM_182961.4(SYNE1):c.23628-17C>G
NM_182961.4(SYNE1):c.23640G>A (p.Leu7880=)
NM_182961.4(SYNE1):c.23650C>T (p.Leu7884=) rs1259207970
NM_182961.4(SYNE1):c.23658C>T (p.Ala7886=)
NM_182961.4(SYNE1):c.23692A>C (p.Arg7898=)
NM_182961.4(SYNE1):c.23727C>G (p.Ala7909=) rs200146485
NM_182961.4(SYNE1):c.23790+11A>G rs1462193161
NM_182961.4(SYNE1):c.23790+9T>C rs2153024919
NM_182961.4(SYNE1):c.23791-12G>A rs754785678
NM_182961.4(SYNE1):c.23791-6C>G
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23802A>G (p.Arg7934=)
NM_182961.4(SYNE1):c.23841C>G (p.Leu7947=) rs760917529
NM_182961.4(SYNE1):c.23856C>G (p.Val7952=) rs772056716
NM_182961.4(SYNE1):c.2385G>A (p.Gln795=)
NM_182961.4(SYNE1):c.23865C>T (p.His7955=)
NM_182961.4(SYNE1):c.23868C>T (p.Asp7956=)
NM_182961.4(SYNE1):c.23883C>T (p.Ala7961=)
NM_182961.4(SYNE1):c.23892C>T (p.Ala7964=)
NM_182961.4(SYNE1):c.23901C>T (p.Asp7967=)
NM_182961.4(SYNE1):c.2391C>A (p.Thr797=) rs201500601
NM_182961.4(SYNE1):c.23934G>C (p.Arg7978=)
NM_182961.4(SYNE1):c.23978+16G>T
NM_182961.4(SYNE1):c.23979-7G>A rs376918337
NM_182961.4(SYNE1):c.24000G>A (p.Leu8000=)
NM_182961.4(SYNE1):c.24078C>T (p.Ser8026=) rs2061111726
NM_182961.4(SYNE1):c.2409C>T (p.Tyr803=)
NM_182961.4(SYNE1):c.24105C>T (p.Ala8035=) rs2061106684
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=) rs2061105872
NM_182961.4(SYNE1):c.24130-12C>G
NM_182961.4(SYNE1):c.24157C>T (p.Leu8053=) rs2152920109
NM_182961.4(SYNE1):c.24174G>A (p.Leu8058=) rs928170278
NM_182961.4(SYNE1):c.24183G>A (p.Lys8061=) rs2152919904
NM_182961.4(SYNE1):c.24225A>T (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.24249C>T (p.His8083=)
NM_182961.4(SYNE1):c.24274C>T (p.Leu8092=) rs2152919136
NM_182961.4(SYNE1):c.24303C>T (p.Arg8101=)
NM_182961.4(SYNE1):c.24309C>T (p.Leu8103=)
NM_182961.4(SYNE1):c.24313-12C>T
NM_182961.4(SYNE1):c.24366C>G (p.Val8122=) rs764796963
NM_182961.4(SYNE1):c.24378G>A (p.Glu8126=) rs754573881
NM_182961.4(SYNE1):c.24393C>T (p.Leu8131=)
NM_182961.4(SYNE1):c.243C>T (p.Arg81=)
NM_182961.4(SYNE1):c.24405A>G (p.Glu8135=) rs2152915378
NM_182961.4(SYNE1):c.24441G>A (p.Lys8147=) rs2060427405
NM_182961.4(SYNE1):c.24444A>G (p.Gln8148=) rs2152914979
NM_182961.4(SYNE1):c.24450+15T>C
NM_182961.4(SYNE1):c.24450+8A>G
NM_182961.4(SYNE1):c.24451-20A>T
NM_182961.4(SYNE1):c.24489T>A (p.Ile8163=)
NM_182961.4(SYNE1):c.24495G>A (p.Gln8165=) rs760658485
NM_182961.4(SYNE1):c.2454G>A (p.Glu818=) rs2098714051
NM_182961.4(SYNE1):c.24597C>T (p.Val8199=)
NM_182961.4(SYNE1):c.24643-14G>A
NM_182961.4(SYNE1):c.24643-20del
NM_182961.4(SYNE1):c.24643-7C>T
NM_182961.4(SYNE1):c.24681G>A (p.Leu8227=)
NM_182961.4(SYNE1):c.24684G>A (p.Glu8228=)
NM_182961.4(SYNE1):c.24687G>A (p.Leu8229=) rs1418252063
NM_182961.4(SYNE1):c.24708G>A (p.Ser8236=)
NM_182961.4(SYNE1):c.24723C>T (p.His8241=) rs141586001
NM_182961.4(SYNE1):c.24777C>G (p.Leu8259=)
NM_182961.4(SYNE1):c.24780G>T (p.Ser8260=) rs766320378
NM_182961.4(SYNE1):c.24810A>G (p.Ser8270=)
NM_182961.4(SYNE1):c.24813A>G (p.Gly8271=)
NM_182961.4(SYNE1):c.24843C>A (p.Ile8281=)
NM_182961.4(SYNE1):c.24927A>G (p.Glu8309=)
NM_182961.4(SYNE1):c.24933G>A (p.Gln8311=)
NM_182961.4(SYNE1):c.24976+8A>G
NM_182961.4(SYNE1):c.24976+9G>A rs749217089
NM_182961.4(SYNE1):c.24977-15T>C
NM_182961.4(SYNE1):c.24977-1706C>T
NM_182961.4(SYNE1):c.24977-1711_24977-1709del
NM_182961.4(SYNE1):c.24977-1714C>G
NM_182961.4(SYNE1):c.24977-17T>A
NM_182961.4(SYNE1):c.24977-1803G>C
NM_182961.4(SYNE1):c.24977-4G>A
NM_182961.4(SYNE1):c.24978G>T (p.Gly8326=)
NM_182961.4(SYNE1):c.24987T>C (p.Ser8329=) rs1562984259
NM_182961.4(SYNE1):c.25011A>G (p.Gln8337=)
NM_182961.4(SYNE1):c.25047A>T (p.Ile8349=)
NM_182961.4(SYNE1):c.25119+18C>A
NM_182961.4(SYNE1):c.25120-11T>C
NM_182961.4(SYNE1):c.25120-20G>A
NM_182961.4(SYNE1):c.25120-9T>C
NM_182961.4(SYNE1):c.25129C>T (p.Leu8377=)
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25140C>T (p.Cys8380=) rs1585993590
NM_182961.4(SYNE1):c.25218C>T (p.Asn8406=)
NM_182961.4(SYNE1):c.25242G>A (p.Thr8414=)
NM_182961.4(SYNE1):c.25246+7G>A rs1585989458
NM_182961.4(SYNE1):c.25246+8C>G rs760126474
NM_182961.4(SYNE1):c.25247-16A>G
NM_182961.4(SYNE1):c.25247-16_25247-15dup rs2152800859
NM_182961.4(SYNE1):c.25347G>A (p.Leu8449=) rs1292954995
NM_182961.4(SYNE1):c.25377G>C (p.Thr8459=) rs755748581
NM_182961.4(SYNE1):c.25383G>A (p.Glu8461=) rs2152799773
NM_182961.4(SYNE1):c.25387T>C (p.Leu8463=)
NM_182961.4(SYNE1):c.25434C>T (p.Ile8478=)
NM_182961.4(SYNE1):c.25458+13T>C
NM_182961.4(SYNE1):c.25459-8C>A
NM_182961.4(SYNE1):c.25464C>G (p.Leu8488=) rs2152753360
NM_182961.4(SYNE1):c.25509T>C (p.Asn8503=)
NM_182961.4(SYNE1):c.25542C>T (p.Ser8514=)
NM_182961.4(SYNE1):c.25659+16G>C
NM_182961.4(SYNE1):c.25659+18C>G
NM_182961.4(SYNE1):c.25660-11_25660-10del rs1585772300
NM_182961.4(SYNE1):c.25660-4G>A
NM_182961.4(SYNE1):c.25660-8T>C rs371504964
NM_182961.4(SYNE1):c.2569-14T>G rs2154258222
NM_182961.4(SYNE1):c.2569-19G>C
NM_182961.4(SYNE1):c.25704C>T (p.Asn8568=) rs559811773
NM_182961.4(SYNE1):c.2572C>T (p.Leu858=)
NM_182961.4(SYNE1):c.25731C>G (p.Val8577=) rs2152737515
NM_182961.4(SYNE1):c.25746C>T (p.Asn8582=) rs774875575
NM_182961.4(SYNE1):c.25758G>A (p.Glu8586=)
NM_182961.4(SYNE1):c.25788+18dup rs1187750937
NM_182961.4(SYNE1):c.25789-10G>A rs2056337983
NM_182961.4(SYNE1):c.25807T>C (p.Leu8603=)
NM_182961.4(SYNE1):c.25866T>C (p.Asn8622=)
NM_182961.4(SYNE1):c.25926C>G (p.Leu8642=)
NM_182961.4(SYNE1):c.25935C>T (p.Leu8645=)
NM_182961.4(SYNE1):c.2598G>A (p.Lys866=) rs1288453744
NM_182961.4(SYNE1):c.25992T>C (p.Ser8664=) rs2152718592
NM_182961.4(SYNE1):c.25C>A (p.Arg9=)
NM_182961.4(SYNE1):c.26001+11A>T
NM_182961.4(SYNE1):c.26001+15G>A
NM_182961.4(SYNE1):c.26001+7_26001+8delinsTC rs2152718365
NM_182961.4(SYNE1):c.26002-17A>G
NM_182961.4(SYNE1):c.26002-7C>T
NM_182961.4(SYNE1):c.26040C>T (p.Thr8680=)
NM_182961.4(SYNE1):c.26043A>G (p.Ser8681=) rs1657226622
NM_182961.4(SYNE1):c.2604C>A (p.Thr868=)
NM_182961.4(SYNE1):c.26055T>C (p.Ser8685=)
NM_182961.4(SYNE1):c.26094+17C>T
NM_182961.4(SYNE1):c.26094+18G>A
NM_182961.4(SYNE1):c.26095-15G>A
NM_182961.4(SYNE1):c.26100A>G (p.Arg8700=) rs1554372048
NM_182961.4(SYNE1):c.26148T>C (p.His8716=)
NM_182961.4(SYNE1):c.26153+18T>A rs1057523744
NM_182961.4(SYNE1):c.26153+8C>T
NM_182961.4(SYNE1):c.26154-10C>A rs749838365
NM_182961.4(SYNE1):c.26154-10C>T rs749838365
NM_182961.4(SYNE1):c.26154-16T>A
NM_182961.4(SYNE1):c.26154-9T>C
NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)
NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=) rs2152525767
NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=)
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=) rs2152524493
NM_182961.4(SYNE1):c.2688G>A (p.Arg896=) rs766583731
NM_182961.4(SYNE1):c.2727+14C>T
NM_182961.4(SYNE1):c.2766G>A (p.Val922=)
NM_182961.4(SYNE1):c.2772C>T (p.Thr924=)
NM_182961.4(SYNE1):c.2835T>A (p.Ile945=)
NM_182961.4(SYNE1):c.2859G>A (p.Lys953=) rs2098689434
NM_182961.4(SYNE1):c.285A>G (p.Ala95=) rs2154348348
NM_182961.4(SYNE1):c.2871G>A (p.Glu957=)
NM_182961.4(SYNE1):c.2881C>A (p.Arg961=)
NM_182961.4(SYNE1):c.2886A>G (p.Arg962=)
NM_182961.4(SYNE1):c.288C>G (p.Leu96=)
NM_182961.4(SYNE1):c.2892+11C>T
NM_182961.4(SYNE1):c.2893-12C>G
NM_182961.4(SYNE1):c.2893-15C>T
NM_182961.4(SYNE1):c.2893-6T>C rs886042945
NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)
NM_182961.4(SYNE1):c.2958C>T (p.Thr986=)
NM_182961.4(SYNE1):c.297C>T (p.Leu99=) rs1355556442
NM_182961.4(SYNE1):c.2988G>C (p.Gly996=)
NM_182961.4(SYNE1):c.2991G>C (p.Leu997=)
NM_182961.4(SYNE1):c.3004C>A (p.Arg1002=) rs1264723962
NM_182961.4(SYNE1):c.3009G>A (p.Lys1003=)
NM_182961.4(SYNE1):c.3027+18G>A
NM_182961.4(SYNE1):c.310-18T>G rs1353458809
NM_182961.4(SYNE1):c.310-495A>G
NM_182961.4(SYNE1):c.310-498T>C
NM_182961.4(SYNE1):c.310-498_310-497del
NM_182961.4(SYNE1):c.310-506C>T
NM_182961.4(SYNE1):c.310-8T>C
NM_182961.4(SYNE1):c.3186+18C>T
NM_182961.4(SYNE1):c.3186+18del rs2154250649
NM_182961.4(SYNE1):c.3186+20A>G rs2154250647
NM_182961.4(SYNE1):c.3186+9C>A
NM_182961.4(SYNE1):c.3243C>T (p.Ile1081=)
NM_182961.4(SYNE1):c.3258G>A (p.Val1086=)
NM_182961.4(SYNE1):c.3324C>A (p.Leu1108=) rs1392215550
NM_182961.4(SYNE1):c.3348C>T (p.Tyr1116=)
NM_182961.4(SYNE1):c.3395+20C>G
NM_182961.4(SYNE1):c.3395+7T>C
NM_182961.4(SYNE1):c.3396-16G>A
NM_182961.4(SYNE1):c.339T>C (p.Asp113=)
NM_182961.4(SYNE1):c.3504+13T>C
NM_182961.4(SYNE1):c.3504+9A>G
NM_182961.4(SYNE1):c.3621G>A (p.Leu1207=)
NM_182961.4(SYNE1):c.3660G>A (p.Leu1220=)
NM_182961.4(SYNE1):c.3669+13C>T
NM_182961.4(SYNE1):c.3669+20T>G
NM_182961.4(SYNE1):c.3670-14T>C rs780827995
NM_182961.4(SYNE1):c.3670-17T>C
NM_182961.4(SYNE1):c.3795T>C (p.Thr1265=)
NM_182961.4(SYNE1):c.3810A>G (p.Glu1270=) rs2154239316
NM_182961.4(SYNE1):c.3837+17C>A
NM_182961.4(SYNE1):c.3837+9G>A rs756594812
NM_182961.4(SYNE1):c.384C>T (p.Thr128=) rs773315965
NM_182961.4(SYNE1):c.3852G>A (p.Arg1284=)
NM_182961.4(SYNE1):c.3873T>C (p.Asp1291=) rs778275142
NM_182961.4(SYNE1):c.3897G>A (p.Ala1299=)
NM_182961.4(SYNE1):c.3897G>T (p.Ala1299=)
NM_182961.4(SYNE1):c.3912G>C (p.Gly1304=)
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.393A>G (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.396T>C (p.Tyr132=)
NM_182961.4(SYNE1):c.4008+18G>A rs2154232610
NM_182961.4(SYNE1):c.4008+20G>A
NM_182961.4(SYNE1):c.4009-19T>C
NM_182961.4(SYNE1):c.402+16del rs1459487255
NM_182961.4(SYNE1):c.402+18C>A
NM_182961.4(SYNE1):c.403-16G>A
NM_182961.4(SYNE1):c.408A>G (p.Glu136=)
NM_182961.4(SYNE1):c.4098C>T (p.Phe1366=)
NM_182961.4(SYNE1):c.4149+11del
NM_182961.4(SYNE1):c.4149+14C>T
NM_182961.4(SYNE1):c.4149+17T>G
NM_182961.4(SYNE1):c.4149+9T>C rs1554706986
NM_182961.4(SYNE1):c.4150-12T>C
NM_182961.4(SYNE1):c.4150-20G>A
NM_182961.4(SYNE1):c.4150-20G>T rs372652425
NM_182961.4(SYNE1):c.4162C>A (p.Arg1388=) rs34028822
NM_182961.4(SYNE1):c.4215G>A (p.Glu1405=)
NM_182961.4(SYNE1):c.4218A>C (p.Ile1406=) rs368727420
NM_182961.4(SYNE1):c.4218A>T (p.Ile1406=)
NM_182961.4(SYNE1):c.4221G>A (p.Pro1407=) rs200370595
NM_182961.4(SYNE1):c.4233A>G (p.Gln1411=)
NM_182961.4(SYNE1):c.4239G>A (p.Lys1413=) rs895948901
NM_182961.4(SYNE1):c.4257G>A (p.Gln1419=)
NM_182961.4(SYNE1):c.4275A>G (p.Glu1425=) rs2154214696
NM_182961.4(SYNE1):c.42C>T (p.Ile14=)
NM_182961.4(SYNE1):c.4305A>G (p.Glu1435=) rs2098470446
NM_182961.4(SYNE1):c.4310+7G>C rs1564002853
NM_182961.4(SYNE1):c.4413C>T (p.Ala1471=)
NM_182961.4(SYNE1):c.4425G>A (p.Ser1475=)
NM_182961.4(SYNE1):c.4461+12A>C
NM_182961.4(SYNE1):c.4461+16A>G
NM_182961.4(SYNE1):c.4461+18_4461+20del
NM_182961.4(SYNE1):c.4461+19A>G
NM_182961.4(SYNE1):c.4462-10T>C
NM_182961.4(SYNE1):c.4521C>A (p.Ala1507=)
NM_182961.4(SYNE1):c.453C>T (p.Ser151=) rs749920635
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4689+12T>A
NM_182961.4(SYNE1):c.4689+13C>G
NM_182961.4(SYNE1):c.4689+15A>G
NM_182961.4(SYNE1):c.4689+16C>G
NM_182961.4(SYNE1):c.4690-10A>G
NM_182961.4(SYNE1):c.4690-14C>T
NM_182961.4(SYNE1):c.4690-15G>A rs2154201104
NM_182961.4(SYNE1):c.4782A>G (p.Glu1594=)
NM_182961.4(SYNE1):c.4788+19A>G rs764033698
NM_182961.4(SYNE1):c.4788+20T>C
NM_182961.4(SYNE1):c.4789-10C>T
NM_182961.4(SYNE1):c.4789-13G>C
NM_182961.4(SYNE1):c.4789-5_4789-3del rs1592495200
NM_182961.4(SYNE1):c.4789-6T>C
NM_182961.4(SYNE1):c.4789-9T>G
NM_182961.4(SYNE1):c.4824G>C (p.Ala1608=)
NM_182961.4(SYNE1):c.4890G>A (p.Ala1630=)
NM_182961.4(SYNE1):c.4894C>T (p.Leu1632=)
NM_182961.4(SYNE1):c.4899G>A (p.Gln1633=)
NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=) rs886044228
NM_182961.4(SYNE1):c.4923G>A (p.Arg1641=)
NM_182961.4(SYNE1):c.4944G>A (p.Thr1648=)
NM_182961.4(SYNE1):c.4959G>C (p.Leu1653=)
NM_182961.4(SYNE1):c.4976+10A>G
NM_182961.4(SYNE1):c.4977-16T>C
NM_182961.4(SYNE1):c.4977-18G>T
NM_182961.4(SYNE1):c.5019G>A (p.Arg1673=)
NM_182961.4(SYNE1):c.5058T>C (p.Ser1686=)
NM_182961.4(SYNE1):c.5070C>A (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5100+15G>A
NM_182961.4(SYNE1):c.5100+19G>A rs901073481
NM_182961.4(SYNE1):c.5100+20A>T
NM_182961.4(SYNE1):c.5101-10T>C
NM_182961.4(SYNE1):c.5101-8T>C
NM_182961.4(SYNE1):c.525G>A (p.Lys175=)
NM_182961.4(SYNE1):c.5267+17A>G
NM_182961.4(SYNE1):c.5267+18A>G
NM_182961.4(SYNE1):c.5322G>A (p.Leu1774=)
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=) rs2098221960
NM_182961.4(SYNE1):c.5412T>A (p.Thr1804=) rs2154186762
NM_182961.4(SYNE1):c.5421+16T>C
NM_182961.4(SYNE1):c.5421+8G>A rs750258642
NM_182961.4(SYNE1):c.5421+9del rs774622835
NM_182961.4(SYNE1):c.5422-7C>G
NM_182961.4(SYNE1):c.5424C>T (p.Asp1808=)
NM_182961.4(SYNE1):c.5469G>A (p.Leu1823=)
NM_182961.4(SYNE1):c.5587C>A (p.Arg1863=)
NM_182961.4(SYNE1):c.5622C>G (p.Leu1874=) rs1481434570
NM_182961.4(SYNE1):c.5655C>G (p.Arg1885=)
NM_182961.4(SYNE1):c.567G>A (p.Gln189=)
NM_182961.4(SYNE1):c.5706T>C (p.Ser1902=)
NM_182961.4(SYNE1):c.5721G>A (p.Lys1907=)
NM_182961.4(SYNE1):c.5754A>G (p.Ala1918=) rs1350643988
NM_182961.4(SYNE1):c.5808T>C (p.His1936=)
NM_182961.4(SYNE1):c.581+13A>G
NM_182961.4(SYNE1):c.581+15T>A
NM_182961.4(SYNE1):c.581+7A>T
NM_182961.4(SYNE1):c.5811G>A (p.Leu1937=)
NM_182961.4(SYNE1):c.582-7C>T rs1328050233
NM_182961.4(SYNE1):c.5874G>A (p.Glu1958=) rs2098158523
NM_182961.4(SYNE1):c.5883G>A (p.Arg1961=) rs997152435
NM_182961.4(SYNE1):c.5910G>A (p.Gln1970=)
NM_182961.4(SYNE1):c.5935T>C (p.Leu1979=) rs2098157630
NM_182961.4(SYNE1):c.5943A>G (p.Lys1981=) rs1195163643
NM_182961.4(SYNE1):c.5946A>G (p.Ala1982=)
NM_182961.4(SYNE1):c.6050+14T>G
NM_182961.4(SYNE1):c.6051-13T>C
NM_182961.4(SYNE1):c.6051-18T>C
NM_182961.4(SYNE1):c.6105A>G (p.Leu2035=)
NM_182961.4(SYNE1):c.6112T>C (p.Leu2038=)
NM_182961.4(SYNE1):c.6147T>C (p.Asp2049=)
NM_182961.4(SYNE1):c.6150A>C (p.Val2050=)
NM_182961.4(SYNE1):c.615G>A (p.Lys205=) rs1594201432
NM_182961.4(SYNE1):c.6162T>A (p.Pro2054=) rs2154176982
NM_182961.4(SYNE1):c.6225T>C (p.His2075=)
NM_182961.4(SYNE1):c.6230+14C>T
NM_182961.4(SYNE1):c.6234G>A (p.Gln2078=)
NM_182961.4(SYNE1):c.624A>G (p.Arg208=) rs2154331618
NM_182961.4(SYNE1):c.6288A>T (p.Ser2096=) rs2154170171
NM_182961.4(SYNE1):c.6294A>G (p.Val2098=)
NM_182961.4(SYNE1):c.6357G>A (p.Glu2119=)
NM_182961.4(SYNE1):c.6363T>C (p.Leu2121=)
NM_182961.4(SYNE1):c.6417G>A (p.Gln2139=)
NM_182961.4(SYNE1):c.6432C>T (p.Asn2144=)
NM_182961.4(SYNE1):c.6480C>T (p.His2160=)
NM_182961.4(SYNE1):c.6540+14del
NM_182961.4(SYNE1):c.6540+15T>C
NM_182961.4(SYNE1):c.6540+18G>A
NM_182961.4(SYNE1):c.6555T>C (p.Leu2185=)
NM_182961.4(SYNE1):c.6586C>T (p.Leu2196=)
NM_182961.4(SYNE1):c.6588G>A (p.Leu2196=)
NM_182961.4(SYNE1):c.6606A>G (p.Val2202=) rs2154165470
NM_182961.4(SYNE1):c.6642C>T (p.Asn2214=)
NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=) rs1193871694
NM_182961.4(SYNE1):c.669A>G (p.Glu223=) rs1294047431
NM_182961.4(SYNE1):c.67+8G>A
NM_182961.4(SYNE1):c.6723+20A>G
NM_182961.4(SYNE1):c.672G>A (p.Leu224=) rs2099051768
NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=) rs1563754171
NM_182961.4(SYNE1):c.6795T>C (p.Thr2265=) rs2154157073
NM_182961.4(SYNE1):c.68-19G>T
NM_182961.4(SYNE1):c.6813G>C (p.Pro2271=)
NM_182961.4(SYNE1):c.6825+19C>G
NM_182961.4(SYNE1):c.6826-7T>C
NM_182961.4(SYNE1):c.6894C>A (p.Thr2298=) rs1554629711
NM_182961.4(SYNE1):c.6897G>A (p.Leu2299=)
NM_182961.4(SYNE1):c.6921A>C (p.Thr2307=) rs898678358
NM_182961.4(SYNE1):c.696C>A (p.Gly232=)
NM_182961.4(SYNE1):c.6975A>G (p.Glu2325=)
NM_182961.4(SYNE1):c.6978G>A (p.Ser2326=)
NM_182961.4(SYNE1):c.7017G>A (p.Leu2339=)
NM_182961.4(SYNE1):c.7029+12A>G
NM_182961.4(SYNE1):c.7029+18A>G
NM_182961.4(SYNE1):c.7029+19T>C
NM_182961.4(SYNE1):c.7030-14C>G
NM_182961.4(SYNE1):c.7032T>C (p.Asp2344=)
NM_182961.4(SYNE1):c.7041A>G (p.Lys2347=) rs1035633192
NM_182961.4(SYNE1):c.7104C>G (p.Arg2368=)
NM_182961.4(SYNE1):c.7110C>T (p.Tyr2370=)
NM_182961.4(SYNE1):c.7131C>T (p.Ser2377=)
NM_182961.4(SYNE1):c.7237+14G>A
NM_182961.4(SYNE1):c.7237+16C>A
NM_182961.4(SYNE1):c.7237+17del
NM_182961.4(SYNE1):c.7238-9T>C rs1591882273
NM_182961.4(SYNE1):c.723T>C (p.Asp241=)
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=) rs886043162
NM_182961.4(SYNE1):c.7296A>G (p.Ser2432=)
NM_182961.4(SYNE1):c.7350+15A>T
NM_182961.4(SYNE1):c.735C>T (p.Ile245=)
NM_182961.4(SYNE1):c.7365A>G (p.Ser2455=) rs761520305
NM_182961.4(SYNE1):c.7488T>C (p.Phe2496=)
NM_182961.4(SYNE1):c.7494A>G (p.Ala2498=)
NM_182961.4(SYNE1):c.7556+15C>T
NM_182961.4(SYNE1):c.7557-18G>A
NM_182961.4(SYNE1):c.7569G>A (p.Gln2523=)
NM_182961.4(SYNE1):c.756C>A (p.Ile252=) rs1241383804
NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=) rs201679896
NM_182961.4(SYNE1):c.7707T>C (p.Ala2569=)
NM_182961.4(SYNE1):c.7713-10T>C rs2154134126
NM_182961.4(SYNE1):c.7713-11C>T rs201131946
NM_182961.4(SYNE1):c.7713-12_7713-11del
NM_182961.4(SYNE1):c.7713-12_7713-11insTTTTTTTT
NM_182961.4(SYNE1):c.7713-13_7713-12insTTTTTTC
NM_182961.4(SYNE1):c.7713-17_7713-13dup
NM_182961.4(SYNE1):c.7713-17_7713-16insTTTTTTC
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTC rs1554611398
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTC rs746802599
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTTC rs2097634535
NM_182961.4(SYNE1):c.7713-19_7713-18insTTTTTTC rs781073860
NM_182961.4(SYNE1):c.7713-23_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7713-4T>A rs571742202
NM_182961.4(SYNE1):c.7713-5T>C rs893217390
NM_182961.4(SYNE1):c.7713-5_7713-4del
NM_182961.4(SYNE1):c.7719T>G (p.Ser2573=)
NM_182961.4(SYNE1):c.778+12A>G
NM_182961.4(SYNE1):c.778+13T>G rs775117869
NM_182961.4(SYNE1):c.778+17T>C rs2154331395
NM_182961.4(SYNE1):c.779-11T>C
NM_182961.4(SYNE1):c.779-17C>A
NM_182961.4(SYNE1):c.7866C>G (p.Ala2622=)
NM_182961.4(SYNE1):c.7965G>A (p.Gly2655=)
NM_182961.4(SYNE1):c.7971A>G (p.Lys2657=)
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=) rs1032522783
NM_182961.4(SYNE1):c.7980G>A (p.Leu2660=)
NM_182961.4(SYNE1):c.8004+16G>A
NM_182961.4(SYNE1):c.8004+8C>T
NM_182961.4(SYNE1):c.8005-7_8005-6insA
NM_182961.4(SYNE1):c.8025T>G (p.Gly2675=)
NM_182961.4(SYNE1):c.8046T>C (p.Asn2682=)
NM_182961.4(SYNE1):c.8172T>C (p.Ala2724=)
NM_182961.4(SYNE1):c.8177+12A>G
NM_182961.4(SYNE1):c.8178-4C>T
NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=) rs561155086
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=) rs749172868
NM_182961.4(SYNE1):c.8328C>G (p.Leu2776=)
NM_182961.4(SYNE1):c.8394G>A (p.Arg2798=) rs1212269934
NM_182961.4(SYNE1):c.8412A>G (p.Thr2804=) rs1352615188
NM_182961.4(SYNE1):c.8415G>A (p.Glu2805=) rs200537411
NM_182961.4(SYNE1):c.8488-15T>C rs754541640
NM_182961.4(SYNE1):c.8488-5A>T
NM_182961.4(SYNE1):c.8544G>A (p.Ala2848=) rs776642978
NM_182961.4(SYNE1):c.8544G>T (p.Ala2848=)
NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=) rs2154124074
NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=) rs2154124018
NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)
NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)
NM_182961.4(SYNE1):c.8652+9A>T
NM_182961.4(SYNE1):c.8653-17G>A
NM_182961.4(SYNE1):c.8706G>A (p.Ser2902=)
NM_182961.4(SYNE1):c.870T>C (p.Thr290=)
NM_182961.4(SYNE1):c.8715C>T (p.Pro2905=)
NM_182961.4(SYNE1):c.8730C>T (p.Asn2910=) rs1591551475
NM_182961.4(SYNE1):c.8733A>T (p.Thr2911=)
NM_182961.4(SYNE1):c.8754C>T (p.Leu2918=)
NM_182961.4(SYNE1):c.8838C>T (p.Asn2946=) rs2154115463
NM_182961.4(SYNE1):c.888+9T>C
NM_182961.4(SYNE1):c.8883A>G (p.Gln2961=)
NM_182961.4(SYNE1):c.8893C>T (p.Leu2965=)
NM_182961.4(SYNE1):c.9006A>G (p.Gly3002=)
NM_182961.4(SYNE1):c.9009+12T>C
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=) rs369163343
NM_182961.4(SYNE1):c.9147-15G>T
NM_182961.4(SYNE1):c.9177G>A (p.Gln3059=)
NM_182961.4(SYNE1):c.9183A>G (p.Lys3061=)
NM_182961.4(SYNE1):c.9243T>A (p.Val3081=)
NM_182961.4(SYNE1):c.9261C>A (p.Thr3087=)
NM_182961.4(SYNE1):c.9309T>C (p.Ser3103=)
NM_182961.4(SYNE1):c.9324+20A>T
NM_182961.4(SYNE1):c.9324+7G>T rs2097282528
NM_182961.4(SYNE1):c.9325-10T>C
NM_182961.4(SYNE1):c.9325-4A>G rs1444975317
NM_182961.4(SYNE1):c.9357C>T (p.His3119=)
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=) rs376622495
NM_182961.4(SYNE1):c.939+14A>T rs531123529
NM_182961.4(SYNE1):c.939+15A>C
NM_182961.4(SYNE1):c.9399C>A (p.Thr3133=)
NM_182961.4(SYNE1):c.940-4C>T
NM_182961.4(SYNE1):c.9411A>G (p.Lys3137=) rs975537862
NM_182961.4(SYNE1):c.9417A>G (p.Lys3139=)
NM_182961.4(SYNE1):c.9450A>G (p.Ala3150=)
NM_182961.4(SYNE1):c.9480T>C (p.Asn3160=)
NM_182961.4(SYNE1):c.9483C>T (p.Leu3161=) rs778123025
NM_182961.4(SYNE1):c.9507+7A>G
NM_182961.4(SYNE1):c.9508-12A>G
NM_182961.4(SYNE1):c.9508-16A>G
NM_182961.4(SYNE1):c.9508-20C>T
NM_182961.4(SYNE1):c.9508-4G>A
NM_182961.4(SYNE1):c.9609C>T (p.Leu3203=) rs1591297339
NM_182961.4(SYNE1):c.9612T>C (p.Tyr3204=) rs1030698096
NM_182961.4(SYNE1):c.9645G>A (p.Lys3215=)
NM_182961.4(SYNE1):c.9651+15T>G
NM_182961.4(SYNE1):c.9652-15G>T
NM_182961.4(SYNE1):c.9652-18C>T
NM_182961.4(SYNE1):c.9652-8C>T
NM_182961.4(SYNE1):c.9678C>T (p.Tyr3226=)
NM_182961.4(SYNE1):c.9697C>T (p.Leu3233=)
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9744G>A (p.Lys3248=) rs2097133437
NM_182961.4(SYNE1):c.9765G>T (p.Ser3255=) rs759631028
NM_182961.4(SYNE1):c.9807+7C>T
NM_182961.4(SYNE1):c.9808-16T>C
NM_182961.4(SYNE1):c.9808-17A>G
NM_182961.4(SYNE1):c.9822A>G (p.Arg3274=)
NM_182961.4(SYNE1):c.9864G>A (p.Gly3288=) rs1591250414
NM_182961.4(SYNE1):c.9864G>C (p.Gly3288=)
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9903C>T (p.His3301=) rs767709050
NM_182961.4(SYNE1):c.9966G>A (p.Lys3322=)
NM_182961.4(SYNE1):c.9972+16C>T
NM_182961.4(SYNE1):c.9978A>G (p.Leu3326=) rs1286630366
NM_182961.4(SYNE1):c.9990A>G (p.Lys3330=)
NM_198994.3(TGM6):c.1093+1G>T
NM_198994.3(TGM6):c.1653C>T (p.His551=) rs755072071
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.303C>T (p.Leu101=) rs757250219

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