ClinVar Miner

List of variants studied for cerebellar disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1599
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_018896.5(CACNA1G):c.1479C>T (p.His493=) rs9897406 0.02109
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_001127222.2(CACNA1A):c.3989+16A>G rs149764550 0.01798
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_001001344.3(ATP2B3):c.407-6G>A rs139607201 0.01600
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu) rs362936 0.01411
NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=) rs75823828 0.01398
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
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_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
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_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_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_032856.5(WDR73):c.336G>A (p.Gln112=) rs73449331 0.00970
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_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_032856.5(WDR73):c.41+262G>A rs147776100 0.00888
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_002024.6(FMR1):c.18G>T (p.Val6=) rs111485627 0.00830
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=) rs73710962 0.00818
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
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_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr) rs41278954 0.00753
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
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_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=) rs6674962 0.00613
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_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_007289.4(MME):c.2133G>A (p.Val711=) rs61760409 0.00518
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
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_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His) rs7222276 0.00445
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg) rs151133441 0.00433
NM_001447.3(FAT2):c.829G>C (p.Val277Leu) rs145834206 0.00429
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_003738.5(PTCH2):c.2565C>T (p.Leu855=) rs34245589 0.00406
NM_152617.4(RNF168):c.1132T>C (p.Cys378Arg) rs149004801 0.00401
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_001127222.2(CACNA1A):c.5067+20G>A rs184517632 0.00390
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
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_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728 0.00281
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_020680.4(SCYL1):c.877T>G (p.Phe293Val) rs143168314 0.00272
NM_015215.4(CAMTA1):c.3066+20C>T rs147462930 0.00264
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_004977.3(KCNC3):c.2093G>A (p.Arg698His) rs144957827 0.00255
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_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
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_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 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_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu) rs144242373 0.00137
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=) rs115059319 0.00116
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys) rs76782506 0.00112
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
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_003738.5(PTCH2):c.1994G>A (p.Arg665His) rs138588008 0.00103
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 0.00095
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 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_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys) rs149056587 0.00067
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_015160.3(PMPCA):c.633+17G>A rs142661443 0.00062
NM_001130823.3(DNMT1):c.4656+9G>A rs367724672 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
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_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00045
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_003640.5(ELP1):c.1309A>C (p.Asn437His) rs148609833 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
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.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
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_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_001127222.2(CACNA1A):c.1199-17G>C rs190836274 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 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_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser) rs778523009 0.00028
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00027
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 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_003640.5(ELP1):c.3855+19G>A rs113767921 0.00026
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
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_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 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_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 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_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001134831.2(AHI1):c.3588+15A>T rs370223538 0.00015
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln) rs137853022 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691 0.00015
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 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_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 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_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00013
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998 0.00013
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_003640.5(ELP1):c.2205-7C>T rs148221146 0.00012
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs201714373 0.00012
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr) rs151120244 0.00012
NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys) rs375995525 0.00012
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 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_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_014053.4(FLVCR1):c.1525+12C>T rs372644357 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 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_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011 0.00011
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00010
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) rs142562681 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_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs200322331 0.00010
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_032856.5(WDR73):c.33C>T (p.Ser11=) rs376620550 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001127222.2(CACNA1A):c.2105-15C>T rs190471428 0.00009
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_003640.5(ELP1):c.1644-13T>C rs557540663 0.00009
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs199595486 0.00009
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg) rs565257577 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 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_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878 0.00009
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768 0.00008
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile) rs892392514 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) rs578253592 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.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 0.00007
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln) rs370575901 0.00007
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser) rs771838754 0.00007
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn) rs749668335 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 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_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001130823.3(DNMT1):c.*211G>C rs772999851 0.00006
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) rs781301028 0.00006
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) rs758190156 0.00006
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00006
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) rs774713377 0.00006
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) rs114872818 0.00006
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp) rs368040993 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_032856.5(WDR73):c.267A>G (p.Leu89=) rs772299478 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala) rs202162088 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile) rs557729565 0.00006
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr) rs754831171 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_004977.3(KCNC3):c.2245G>A (p.Ala749Thr) rs1365532889 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=) rs747135135 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=) rs201861233 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys) rs772622270 0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg) rs769420760 0.00005
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1353-9C>A rs376436841 0.00004
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.772-11A>T rs189649819 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr) rs370786558 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3329-20A>G rs1004117268 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 0.00004
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln) rs369627815 0.00004
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122 0.00004
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880 0.00004
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191 0.00004
NM_003640.5(ELP1):c.2861-12T>G rs746590157 0.00004
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377 0.00004
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala) rs1286140759 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003640.5(ELP1):c.3932-18T>G rs767184876 0.00004
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) rs201460139 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_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 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_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val) rs769280712 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 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_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060 0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001130823.3(DNMT1):c.4773+11C>T rs777602633 0.00003
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) rs755151805 0.00003
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) rs766504703 0.00003
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=) rs764412921 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) rs1016306200 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu) rs1432380664 0.00003
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) rs199637120 0.00003
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs376671881 0.00003
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp) rs766255360 0.00003
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070 0.00003
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) rs756919296 0.00003
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557 0.00003
NM_003640.5(ELP1):c.2386A>G (p.Met796Val) rs748482757 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys) rs776891269 0.00003
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431 0.00003
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys) rs200941360 0.00003
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369 0.00003
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046 0.00003
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val) rs769146127 0.00003
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523 0.00003
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile) rs1370759222 0.00003
NM_003640.5(ELP1):c.859G>A (p.Val287Ile) rs755938001 0.00003
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe) rs750671399 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe) rs876660249 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) rs761448855 0.00002
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) rs751704816 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) rs762006290 0.00002
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) rs767308840 0.00002
NM_001130823.3(DNMT1):c.3394+4C>T rs781376510 0.00002
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) rs1186008456 0.00002
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) rs747144567 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2623+12T>C rs763402338 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) rs760907112 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala) rs770333327 0.00002
NM_003640.5(ELP1):c.1141G>A (p.Val381Met) rs769108524 0.00002
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe) rs745948468 0.00002
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp) rs200397694 0.00002
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser) rs201601641 0.00002
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln) rs370041985 0.00002
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys) rs191464698 0.00002
NM_003640.5(ELP1):c.2587+10C>T rs771045250 0.00002
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp) rs763312635 0.00002
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser) rs750563722 0.00002
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala) rs147069577 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 0.00002
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg) rs367582146 0.00002
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp) rs201168521 0.00002
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro) rs558588647 0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=) rs775602185 0.00002
NM_003640.5(ELP1):c.866T>C (p.Val289Ala) rs890474380 0.00002
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781 0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) rs781204167 0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn) rs759934290 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln) rs376330325 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.3835+3A>G rs769218955 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 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.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) rs887302155 0.00002
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) rs556044910 0.00002
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952 0.00002
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615 0.00002
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) rs746689638 0.00002
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.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr) rs377639990 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln) rs41293467 0.00001
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile) rs587782060 0.00001
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys) rs80358767 0.00001
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val) rs397507360 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile) rs786203098 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365 0.00001
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.509-6C>G rs778046473 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) rs201398669 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) rs781006387 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) rs750048459 0.00001
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) rs766051225 0.00001
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) rs759143980 0.00001
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) rs1372902099 0.00001
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) rs765434425 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 0.00001
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) rs773858454 0.00001
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) rs372362132 0.00001
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) rs766584545 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 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.1294C>T (p.His432Tyr) rs773228197 0.00001
NM_003640.5(ELP1):c.1361-1G>T rs372225464 0.00001
NM_003640.5(ELP1):c.1909-17C>G rs373498962 0.00001
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg) rs762636526 0.00001
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949 0.00001
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288 0.00001
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) rs370772658 0.00001
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) rs374558203 0.00001
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) rs1034776233 0.00001
NM_003640.5(ELP1):c.2295A>T (p.Gly765=) rs137874743 0.00001
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264 0.00001
NM_003640.5(ELP1):c.2460C>T (p.Cys820=) rs181121832 0.00001
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn) rs770590151 0.00001
NM_003640.5(ELP1):c.2547A>G (p.Pro849=) rs764837607 0.00001
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635 0.00001
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612 0.00001
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.2847C>T (p.His949=) rs529456133 0.00001
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His) rs1435854424 0.00001
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys) rs763981711 0.00001
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr) rs770540843 0.00001
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=) rs112178985 0.00001
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg) rs201781695 0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) rs762224071 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.3903G>T (p.Gln1301His) rs200524123 0.00001
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp) rs773117166 0.00001
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) rs768246990 0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met) rs748846701 0.00001
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg) rs1305901422 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val) rs372494676 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser) rs142037771 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe) rs747867189 0.00001
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn) rs949199630 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu) rs775017742 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys) rs1196015536 0.00001
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg) rs1966513057 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys) rs768030202 0.00001
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His) rs1480250597 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 0.00001
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile) rs905516252 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.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys) rs1963624413 0.00001
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr) rs764832127 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His) rs1970020650 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln) rs916661298 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val) rs2036709987 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 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.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 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.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 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.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 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.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter) rs148275050 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 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.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys) rs759246710 0.00001
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His) rs758415122 0.00001
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg) rs587782016
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn) rs431825280
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) rs398122725
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser) rs1249900164
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu) rs1555282154
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu) rs397507282
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val) rs1555282574
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg) rs80358512
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser) rs80358526
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val) rs1566227648
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr) rs1403318277
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile) rs1555283763
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg) rs397507336
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr) rs1060502462
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr) rs80358907
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile) rs1555286026
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr) rs587781493
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe) rs80359195
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp) rs1555289516
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.553-1G>T rs2129741848
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) rs769487055
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) rs1559384559
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) rs2057721231
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) rs1085307557
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) rs16054
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1530-4del rs757295724
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.859+8G>C rs765856771
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu) rs2145340495
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg) rs1599376406
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.406T>C (p.Leu136=) rs1299907778
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=) rs148926588
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=) rs114187147
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) rs1022097029
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg) rs746655221
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) rs369361457
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys) rs976664434
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) rs1447493103
NM_001378969.1(KCND3):c.63G>C (p.Pro21=) rs923682288
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg) rs1376864427
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup) rs60216939
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu) rs144724569
NM_003640.5(ELP1):c.116A>G (p.His39Arg) rs2132052820
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr) rs571143526
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr) rs1388151143
NM_003640.5(ELP1):c.1644-13dup rs756059162
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu) rs199555804
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe) rs1828805989
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile) rs1828721515
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2283+11_2283+15del rs778115996
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) rs546587836
NM_003640.5(ELP1):c.2501+4T>G rs1405951778
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met) rs180931232
NM_003640.5(ELP1):c.2908T>C (p.Leu970=) rs180931232
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu) rs1828328786
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser) rs1296107083
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) rs1827767235
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) rs1446325480
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln) rs367552387
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys) rs977172542
NM_003640.5(ELP1):c.958+19_958+20delinsAT rs2132024951
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser) rs750663365
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3]) rs764571894
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.21-162C>G rs578105700
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln) rs2137645971
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile) rs2137641417
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) rs1388341388
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter) rs1553280067
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly) rs565245381
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg) rs181526554
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp) rs1967370164
NM_015272.5(RPGRIP1L):c.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr) rs2151128525
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys) rs981992752
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.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
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.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.664C>G (p.Leu222Val) rs765345575
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del) rs746710766
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) rs138711165
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
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.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala) rs751090202
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu) rs1207624769
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.3837+9G>A rs756594812

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