ClinVar Miner

List of variants reported as not provided for not provided

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ClinVar version:
Total variants: 8806
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.78G>A (p.Arg26=) rs1802645 0.99723
NM_002661.5(PLCG2):c.2055-8T>C rs12448130 0.99057
NM_000540.3(RYR1):c.1122+52T>C rs4476278 0.98614
NM_153460.4(IL17RC):c.2133C>G (p.Gly711=) rs183956 0.98560
NM_032578.4(MYPN):c.2886T>C (p.Val962=) rs10733838 0.98443
NM_005857.5(ZMPSTE24):c.628-50T>G rs6677717 0.98347
NM_004393.6(DAG1):c.285+42T>C rs2329024 0.97521
NM_004393.6(DAG1):c.286-135G>A rs2311801 0.97418
NM_006904.7(PRKDC):c.1623+6A>G rs1231202 0.96352
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) rs900495 0.94337
NM_005633.4(SOS1):c.2964+43C>A rs1454223 0.94284
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) rs1075865 0.93819
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_005857.5(ZMPSTE24):c.769+4192C>T rs6676644 0.90576
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_000540.3(RYR1):c.1441-24T>C rs7254832 0.90133
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) rs17617 0.88540
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_198282.4(STING1):c.695A>G (p.His232Arg) rs1131769 0.87015
NM_022336.4(EDAR):c.*42G>T rs7607563 0.86887
NM_000631.5(NCF4):c.758+57T>C rs2075939 0.86715
NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln) rs1043730 0.85701
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_001572.5(IRF7):c.327G>A (p.Arg109=) rs1061501 0.84827
NM_001110792.2(MECP2):c.413+266T>C rs2075596 0.84600
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_000540.3(RYR1):c.45+300T>C rs919781 0.83640
NM_033337.2(CAV3):c.*932T>A rs237883 0.83353
NM_213599.3(ANO5):c.295-325A>G rs4509753 0.83242
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.180+223G>A rs4620717 0.83192
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_005101.4(ISG15):c.294A>G (p.Val98=) rs8997 0.83017
NM_002272.4(KRT4):c.*269A>G rs2035879 0.82793
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_014339.7(IL17RA):c.932-10C>T rs2241046 0.81871
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) rs3213501 0.79911
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_005084.4(PLA2G7):c.1136T>C (p.Val379Ala) rs1051931 0.78685
NM_002029.4(FPR1):c.32T>C (p.Ile11Thr) rs5030878 0.78476
NM_015957.4(APIP):c.-70T>C rs2956112 0.78475
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=) rs1061040 0.77937
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_017918.5(MCUB):c.451+4929G>T rs4698775 0.77452
NM_021803.4(IL21):c.234C>T (p.Cys78=) rs4833837 0.76501
NM_006757.4(TNNT3):c.32-149A>T rs2734500 0.76033
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) rs2306574 0.75510
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_000843.4(GRM6):c.1131C>T (p.Asp377=) rs2071246 0.74455
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_003954.5(MAP3K14):c.2706C>G (p.Val902=) rs1047833 0.74340
NC_000006.12:g.30806580G>A rs3130783 0.74116
NM_001558.4(IL10RA):c.1051A>G (p.Arg351Gly) rs2229113 0.73756
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_182916.3(TRNT1):c.948A>G (p.Ala316=) rs1705805 0.73295
NM_006757.4(TNNT3):c.18-76A>G rs965912 0.73230
NM_006757.4(TNNT3):c.-18-482G>A rs1398256 0.73144
NM_002661.5(PLCG2):c.1497C>T (p.Ala499=) rs1143689 0.72851
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_182919.4(TICAM1):c.12A>G (p.Thr4=) rs7255265 0.72359
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_000110.4(DPYD):c.85= (p.Cys29=) rs1801265 0.72034
NM_080424.4(SP110):c.895G>A (p.Gly299Arg) rs1365776 0.71538
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) rs523349 0.71022
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_032492.4(JAGN1):c.96T>C (p.Thr32=) rs279553 0.69356
NM_000348.3(SRD5A2):c.-62G>C rs632148 0.68927
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) rs1049254 0.68722
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_002661.5(PLCG2):c.174T>C (p.Ala58=) rs1143685 0.68306
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_000348.4(SRD5A2):c.281+15T>C rs522638 0.68085
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_007074.4(CORO1A):c.336A>G (p.Pro112=) rs1132812 0.67557
NM_213599.3(ANO5):c.138+169G>A rs4922980 0.67443
NM_213599.3(ANO5):c.138+206T>C rs4922981 0.67232
NM_001083116.3(PRF1):c.900C>T (p.His300=) rs885822 0.67032
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_000540.3(RYR1):c.1925+86T>C rs2071085 0.65304
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_000626.4(CD79B):c.366T>C (p.Cys122=) rs2070776 0.64196
NM_001385.3(DPYS):c.424-62G>T rs7821992 0.63873
NM_002276.5(KRT19):c.471T>C (p.Asn157=) rs4601 0.63838
NM_004371.4(COPA):c.363C>T (p.Asn121=) rs1802778 0.63518
NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=) rs455060 0.63173
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_001364905.1(LRBA):c.7849+10A>G rs1813134 0.62993
NM_000540.3(RYR1):c.2168-57T>G rs4802474 0.62888
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_000540.3(RYR1):c.2361-68C>T rs2304147 0.62861
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_000110.4(DPYD):c.1740+40A>G rs2811178 0.61570
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_001385.3(DPYS):c.-1T>C rs2959023 0.61425
NC_000006.12:g.43858890C>T rs943080 0.60993
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891 0.59749
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922 0.59732
NM_003183.6(ADAM17):c.1824T>C (p.Ser608=) rs1048610 0.59724
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_021814.5(ELOVL5):c.757-40_757-37dup rs3830806 0.59201
NM_002276.5(KRT19):c.90C>T (p.Ala30=) rs11550883 0.59102
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_001199138.2(NLRC4):c.543A>C (p.Arg181=) rs408813 0.58740
NM_016599.5(MYOZ2):c.247-18A>G rs11721566 0.58647
NM_152468.5(TMC8):c.1107G>A (p.Glu369=) rs12452890 0.58602
NM_000526.5(KRT14):c.193C>T (p.Leu65=) rs3826551 0.58145
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=) rs1805059 0.57983
NM_000843.4(GRM6):c.1500+23A>G rs2256966 0.57932
NM_032578.4(MYPN):c.1647T>C (p.Ser549=) rs2673794 0.57747
NR_038264.1(ADAMTS9-AS2):n.469+34351C>T rs6795735 0.57743
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro) rs2645329 0.57334
NM_000843.4(GRM6):c.1392A>G (p.Gly464=) rs11746675 0.57251
NM_000526.5(KRT14):c.189C>T (p.Cys63=) rs11551758 0.56357
NM_000526.5(KRT14):c.369T>C (p.Asn123=) rs3826549 0.56333
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_000548.5(TSC2):c.1120-93T>C rs17135764 0.56219
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NM_152468.5(TMC8):c.917A>T (p.Asn306Ile) rs7208422 0.55328
NC_000015.10:g.58396268C>G rs920915 0.54639
NM_032415.7(CARD11):c.3276A>G (p.Arg1092=) rs1124581 0.54386
NM_000373.3(UMPS):c.-28A>G rs1139538 0.54345
NM_000373.3(UMPS):c.-110A>G rs2279198 0.54337
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_133510.4(RAD51B):c.853+26380G>A rs8017304 0.53572
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=) rs8018462 0.53238
NM_198282.4(STING1):c.144G>C (p.Val48=) rs7447927 0.52424
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_153460.4(IL17RC):c.332C>T (p.Ser111Leu) rs708567 0.51321
NM_013447.4(ADGRE2):c.478C>G (p.Leu160Val) rs12976472 0.51180
NM_032790.4(ORAI1):c.798T>C (p.Thr266=) rs3825175 0.50916
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_000843.4(GRM6):c.1353T>C (p.Asn451=) rs2067011 0.50613
NM_001558.4(IL10RA):c.459A>G (p.Ala153=) rs2256111 0.50461
NM_001330588.2(TPP2):c.780T>C (p.Ser260=) rs2230854 0.50210
NM_001330588.2(TPP2):c.620+10G>A rs4576935 0.50076
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_002273.4(KRT8):c.681A>G (p.Leu227=) rs8608 0.49112
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=) rs11078355 0.48964
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_005013.4(NUCB2):c.-166G>C rs214087 0.48104
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_002055.5(GFAP):c.906+81A>G rs2289671 0.47704
NM_000493.4(COL10A1):c.155-611A>T rs3812111 0.47618
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_004946.3(DOCK2):c.2727G>A (p.Gln909=) rs261623 0.46437
NM_001385.3(DPYS):c.265-58T>C rs2669429 0.45695
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_006121.4(KRT1):c.1389C>T (p.Arg463=) rs936958 0.45526
NM_006121.4(KRT1):c.868-31T>C rs2741158 0.45526
NM_002055.4(GFAP):c.-264C>A rs2070935 0.45297
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) rs2274064 0.45154
NM_003289.4(TPM2):c.115-105A>G rs2145925 0.44964
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484 0.44413
NM_000373.3(UMPS):c.-67T>C rs2279199 0.44281
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_000101.4(CYBA):c.203+8T>C rs4782393 0.44118
NM_000110.4(DPYD):c.*768G>A rs291592 0.43806
NM_001282225.2(ADA2):c.159C>T (p.Asn53=) rs362129 0.43592
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=) rs2304891 0.43325
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_004946.3(DOCK2):c.3612C>T (p.Thr1204=) rs3763048 0.42784
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009 0.41922
NM_002055.5(GFAP):c.1172-306A>G rs9915329 0.41889
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_004946.3(DOCK2):c.3468-4G>A rs3763047 0.41818
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NR_033928.1(TNFRSF10A-DT):n.238G>T rs13278062 0.41453
NM_006262.4(PRPH):c.545+69G>C rs7488343 0.41037
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_000526.5(KRT14):c.280G>A (p.Ala94Thr) rs3826550 0.40897
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_000278.5(PAX2):c.909A>C (p.Pro303=) rs1800898 0.40586
NM_004946.3(DOCK2):c.3456C>G (p.Leu1152=) rs9791113 0.40563
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_001366385.1(CARD14):c.2399-4A>G rs11653893 0.40359
NM_003283.6(TNNT1):c.193-88T>C rs2560942 0.40245
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) rs11652075 0.39960
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_002661.5(PLCG2):c.3093T>C (p.Asn1031=) rs1071644 0.39075
NM_000843.4(GRM6):c.2436+55G>A rs2071248 0.39006
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_005101.4(ISG15):c.248G>A (p.Ser83Asn) rs1921 0.38885
NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro) rs532648 0.38842
NM_000540.3(RYR1):c.12624+1597T>C rs2960339 0.38829
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=) rs11083462 0.38131
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_001875.5(CPS1):c.3405-29A>T rs3213784 0.37981
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_006121.4(KRT1):c.963+52T>G rs2741159 0.37434
NM_172245.4(CSF2RA):c.999G>A (p.Val333=) rs28460440 0.37040
NM_002029.4(FPR1):c.301G>C (p.Val101Leu) rs2070745 0.36919
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.36399
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser) rs2066964 0.35511
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_000277.3(PAH):c.696= (p.Gln232=) rs1126758 0.35009
NM_194318.4(B3GLCT):c.271-1835T>C rs9542236 0.34696
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_000540.3(RYR1):c.7926+28A>G rs1469699 0.34603
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_001572.5(IRF7):c.535A>G (p.Lys179Glu) rs1061502 0.33801
NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) rs1131665 0.33779
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_004946.3(DOCK2):c.4896T>C (p.Arg1632=) rs1045168 0.32381
NM_002282.3(KRT83):c.558C>T (p.Asn186=) rs3741715 0.32296
NM_000540.3(RYR1):c.8816+17T>A rs2915959 0.32203
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000540.3(RYR1):c.8400+28A>G rs2915953 0.32146
NM_000540.3(RYR1):c.8816+43A>C rs2960346 0.32141
NM_000277.3(PAH):c.510-54G>A rs2251905 0.32128
NM_000540.3(RYR1):c.8816+87G>T rs2960347 0.31882
NM_000540.3(RYR1):c.8541+54A>G rs2915954 0.31832
NM_000540.3(RYR1):c.8541+37T>G rs2960343 0.31600
NM_000540.3(RYR1):c.8617-35C>T rs2960344 0.31588
NM_000540.3(RYR1):c.8692+28T>G rs2960345 0.31541
NM_172370.5(DAOA):c.89G>A (p.Arg30Lys) rs2391191 0.31282
NM_001366385.1(CARD14):c.676-6G>A rs28674001 0.31201
NC_000016.10:g.56959412C>A rs3764261 0.31123
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000540.3(RYR1):c.8541+34C>T rs2960342 0.31072
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_006262.4(PRPH):c.702+27T>C rs2070760 0.30664
NM_002029.4(FPR1):c.546C>A (p.Pro182=) rs2070746 0.30428
NM_004393.6(DAG1):c.*1508A>G rs4625 0.30382
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_014339.7(IL17RA):c.1100C>T (p.Ala367Val) rs879577 0.29184
NM_002276.4(KRT19):c.-99G>C rs56051972 0.29170
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser) rs11650915 0.28816
NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=) rs7289170 0.28593
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_000110.4(DPYD):c.*780C>T rs291593 0.28025
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000540.3(RYR1):c.10627-255T>C rs2254484 0.27819
NM_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) rs3192177 0.27555
NM_001282225.2(ADA2):c.1240-5C>G rs3764846 0.27480
NM_003265.3(TLR3):c.1377C>T (p.Phe459=) rs3775290 0.27189
NM_001290043.2(TAP2):c.608+7G>A rs2071466 0.26274
NM_002055.5(GFAP):c.1258-86C>T rs11651396 0.26184
NM_014339.7(IL17RA):c.2160C>T (p.Pro720=) rs4819555 0.25992
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000526.5(KRT14):c.231C>T (p.Ser77=) rs6503639 0.25809
NM_002055.5(GFAP):c.1128-66C>G rs2289679 0.25658
NM_005857.5(ZMPSTE24):c.357+114A>G rs7516571 0.25626
NM_018662.3(DISC1):c.791G>A (p.Arg264Gln) rs3738401 0.25560
NM_000373.4(UMPS):c.1274-52G>C rs3772807 0.25474
NM_005857.3(ZMPSTE24):c.-1149G>A rs926830 0.25296
NM_004612.4(TGFBR1):c.1131-402T>G rs334353 0.25274
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_033337.2(CAV3):c.-106G>A rs2072583 0.24982
NM_002055.4(GFAP):c.-518T>A rs28485918 0.24949
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_006262.4(PRPH):c.1107A>G (p.Lys369=) rs73112143 0.24810
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=) rs1957106 0.24766
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_004393.6(DAG1):c.*830G>T rs12583 0.24617
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_013356.3(SLC16A8):c.1198+571G>A rs8135665 0.24393
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=) rs2228397 0.24300
NM_000350.3(ABCA4):c.769-32T>C rs526016 0.24162
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_000350.3(ABCA4):c.1761-54G>A rs4147833 0.23727
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_004946.3(DOCK2):c.3195A>C (p.Leu1065=) rs2287727 0.23497
NM_002281.4(KRT81):c.735+4C>T rs12812669 0.23428
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_001099667.3(ARMS2):c.297+881C>T rs3750847 0.23032
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_000424.4(KRT5):c.591C>A (p.Asp197Glu) rs641615 0.22738
NM_000424.4(KRT5):c.594C>A (p.Thr198=) rs641621 0.22738
NM_006262.4(PRPH):c.1267+58T>C rs2236746 0.22650
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_003283.6(TNNT1):c.792-114C>T rs891186 0.22262
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22187
NM_153460.4(IL17RC):c.1047C>T (p.Asn349=) rs279548 0.22119
NM_003283.6(TNNT1):c.-12+30T>C rs28362592 0.22105
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000277.3(PAH):c.1065+97G>A rs12580432 0.21736
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000540.3(RYR1):c.10825-218C>G rs908644 0.21610
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His) rs2258689 0.21570
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000062.3(SERPING1):c.685+88G>A rs11229063 0.20974
NM_001385.3(DPYS):c.216C>T (p.Phe72=) rs2298840 0.20920
NM_000417.3(IL2RA):c.367+7G>C rs11256369 0.20897
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_014339.7(IL17RA):c.1458C>T (p.Ile486=) rs879575 0.20567
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_003282.4(TNNI2):c.15+140C>A rs1877444 0.20357
NM_000540.3(RYR1):c.9173-98T>G rs2960337 0.20350
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000540.3(RYR1):c.2979C>T (p.Asn993=) rs2228070 0.19758
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=) rs1805061 0.18661
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_000110.4(DPYD):c.1974+75A>G rs72728438 0.18528
NM_000424.4(KRT5):c.555+9C>T rs638907 0.18403
NM_001645.3(APOC1):c.*459A>G rs4420638 0.18374
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_000843.4(GRM6):c.2196G>A (p.Thr732=) rs2071247 0.18181
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_003283.6(TNNT1):c.611+201C>T rs3760873 0.18018
NM_006121.4(KRT1):c.1413= (p.Thr471=) rs698170 0.17860
NM_004946.3(DOCK2):c.844-4C>A rs3734099 0.17712
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17640
NM_000110.4(DPYD):c.1740+39C>T rs2786783 0.17597
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly) rs11549950 0.17563
NM_003282.4(TNNI2):c.186+26G>A rs2271441 0.17441
NM_170707.4(LMNA):c.1489-41C>T rs553016 0.17380
NM_032578.4(MYPN):c.1875C>T (p.Pro625=) rs2673793 0.17340
NM_020458.4(TTC7A):c.798G>A (p.Glu266=) rs17480869 0.17316
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_000526.5(KRT14):c.1322-13A>G rs2001185 0.17177
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_004946.3(DOCK2):c.1212C>A (p.Thr404=) rs2112703 0.16933
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000372.2(TYR):c.-199C>A rs1799989 0.16584
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_213599.3(ANO5):c.2520+25G>C rs11026488 0.16418
NM_001083116.3(PRF1):c.822C>T (p.Ala274=) rs885821 0.16394
NM_000348.4(SRD5A2):c.*1552G>A rs1042578 0.16392
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_006929.5(SKIC2):c.1212-29G>A rs429608 0.16239
NM_213599.3(ANO5):c.879-76T>A rs7104736 0.16088
NM_000540.3(RYR1):c.2167+31C>G rs2071086 0.16029
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000540.3(RYR1):c.9173-21C>T rs2960338 0.15903
NM_002055.5(GFAP):c.619-12C>T rs3744468 0.15797
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008 0.15775
NM_213599.3(ANO5):c.762+87G>A rs11026471 0.15642
NM_213599.3(ANO5):c.649-166A>G rs4534588 0.15597
NM_001369369.1(FOXN1):c.1135+8C>T rs2286521 0.15430
NM_000424.4(KRT5):c.630T>C (p.Thr210=) rs17852231 0.15363
NM_000424.4(KRT5):c.1065A>C (p.Thr355=) rs4761924 0.15330
NM_002055.5(GFAP):c.907-100A>C rs8067029 0.15267
NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser) rs11549949 0.15185
NM_000110.4(DPYD):c.958+134T>G rs2811202 0.15180
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000277.3(PAH):c.1155= (p.Leu385=) rs772897 0.15047
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.14782
NM_032790.4(ORAI1):c.546C>T (p.Ile182=) rs3741595 0.14694
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=) rs17652121 0.14693
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala) rs62063787 0.14671
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu) rs63750417 0.14668
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn) rs62063786 0.14666
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.14666
NM_001377265.1(MAPT):c.1732+2342T>C rs62063845 0.14662
NM_002055.5(GFAP):c.858G>A (p.Arg286=) rs2289681 0.14614
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile) rs1800454 0.14502
NM_018662.3(DISC1):c.1819C>T (p.Leu607Phe) rs6675281 0.14477
NM_002055.5(GFAP):c.1128-151C>T rs71373526 0.14299
NM_000540.3(RYR1):c.10456-518T>C rs2071090 0.14158
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365 0.14052
NM_004693.3(KRT75):c.481G>A (p.Ala161Thr) rs2232387 0.14041
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_001034853.2(RPGR):c.1245+16A>G rs5918522 0.13807
NM_001330227.2(NUCB2):c.-254A>G rs4757506 0.13527
NM_000348.4(SRD5A2):c.*849A>G rs9332975 0.13522
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001320198.2(KRT86):c.348G>A (p.Arg116=) rs58580222 0.13244
NM_000278.5(PAX2):c.798C>T (p.Asn266=) rs1800897 0.12916
NM_032578.4(MYPN):c.1869C>A (p.Thr623=) rs61854624 0.12645
NM_002055.5(GFAP):c.1171+501C>A rs12941832 0.12522
NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=) rs11914 0.12487
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_000540.3(RYR1):c.270+27G>A rs3745843 0.12316
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_014017.4(LAMTOR2):c.111C>T (p.Tyr37=) rs7541 0.11940
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_002029.4(FPR1):c.568A>T (p.Arg190Trp) rs5030880 0.11833
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_003283.6(TNNT1):c.47-13C>T rs11669534 0.11553
NM_016327.3(UPB1):c.-17A>T rs2070475 0.11463
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_000540.3(RYR1):c.3382-410T>G rs7258075 0.11148
NM_032578.4(MYPN):c.1178T>C (p.Val393Ala) rs11596653 0.11086
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=) rs63750222 0.10563
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_000064.4(C3):c.3811-73C>G rs2241394 0.10517
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_001320198.2(KRT86):c.416A>C (p.Gln139Pro) rs58717266 0.10399
NM_000540.3(RYR1):c.9123-61C>T rs2960336 0.10368
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_005857.3(ZMPSTE24):c.-326G>A rs3765483 0.10147
NM_032578.4(MYPN):c.1251G>A (p.Gln417=) rs10997948 0.10147
NM_000540.3(RYR1):c.12095-129G>C rs2945046 0.10141
NM_005857.3(ZMPSTE24):c.-1269C>G rs7548758 0.10125
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn) rs33980500 0.09825
NM_000110.4(DPYD):c.763-118A>G rs3790387 0.09806
NM_003283.6(TNNT1):c.107-108G>T rs2434454 0.09768
NM_000110.4(DPYD):c.1129-15T>C rs56293913 0.09765
NM_033337.3(CAV3):c.115-23G>C rs57159780 0.09580
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_004771.4(MMP20):c.954-4768T>C rs10895322 0.09474
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09352
NM_001034853.2(RPGR):c.1507-97T>C rs62635007 0.09306
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981 0.09214
NM_033337.3(CAV3):c.115-89G>T rs13060135 0.09164
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_001206641.3(COA6):c.213-4A>G rs73099933 0.09041
NM_000110.4(DPYD):c.2300-39G>A rs12137711 0.09021
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_001369369.1(FOXN1):c.852T>C (p.Leu284=) rs12449554 0.08836
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_000110.4(DPYD):c.1340-106T>A rs61789183 0.08725
NM_005857.5(ZMPSTE24):c.627+18T>G rs16827109 0.08711
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_000273.3(GPR143):c.360+13C>G rs11095520 0.08633
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_033337.3(CAV3):c.114+26G>A rs11922879 0.08126
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_020351.4(COL8A1):c.-4+17674G>T rs13081855 0.07978
NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys) rs2071587 0.07832
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000540.3(RYR1):c.7836-66A>G rs1469697 0.07682
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) rs1980131 0.07643
NM_005857.5(ZMPSTE24):c.*723C>T rs10489431 0.07425
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_005857.5(ZMPSTE24):c.*890A>G rs10489432 0.07352
NM_000540.3(RYR1):c.8400+61C>T rs2960341 0.07267
NM_016599.5(MYOZ2):c.459A>G (p.Glu153=) rs7687613 0.07218
NM_213599.3(ANO5):c.1630+181A>G rs7108392 0.07152
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=) rs2228068 0.07074
NM_000432.4(MYL2):c.275-58G>A rs2071629 0.06928
NM_000330.4(RS1):c.330T>C (p.Cys110=) rs1801161 0.06874
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) rs59371099 0.06827
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_000843.4(GRM6):c.2420C>T (p.Ala807Val) rs17078874 0.06684
NM_000540.3(RYR1):c.7323+20C>A rs2234709 0.06555
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His) rs33910054 0.06102
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=) rs1056990 0.06020
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val) rs62635003 0.05955
NM_006262.4(PRPH):c.1217+43C>A rs112146976 0.05942
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_000110.4(DPYD):c.*573G>A rs1042482 0.05769
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_170707.4(LMNA):c.810+61C>T rs11264445 0.05733
NM_005573.4(LMNB1):c.*18C>T rs2230151 0.05698
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_000417.3(IL2RA):c.516C>T (p.His172=) rs2228149 0.05507
NM_006262.4(PRPH):c.-24G>C rs74089010 0.05436
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=) rs3749830 0.05426
NM_014336.5(AIPL1):c.784+18G>A rs7222126 0.05323
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000424.4(KRT5):c.413G>A (p.Gly138Glu) rs11170164 0.05271
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_147686.4(TRAF3IP2):c.220C>T (p.Arg74Trp) rs13190932 0.05042
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_004946.3(DOCK2):c.843+7G>A rs72841138 0.04984
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) rs4986791 0.04749
NM_000540.3(RYR1):c.7836-70G>C rs1469696 0.04738
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816 0.04715
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_000350.3(ABCA4):c.2654-48G>C rs12069723 0.04589
NM_000843.4(GRM6):c.2397C>T (p.Phe799=) rs17078875 0.04568
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000540.3(RYR1):c.-108T>C rs4632259 0.04408
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys) rs74143030 0.04308
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04307
NM_004946.3(DOCK2):c.2352A>G (p.Gln784=) rs13155521 0.04295
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) rs17376848 0.04278
NM_032578.4(MYPN):c.2163C>A (p.Ala721=) rs71584491 0.04239
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001110792.2(MECP2):c.414-109A>G rs3850326 0.04029
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=) rs41274330 0.03876
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_170707.4(LMNA):c.1968+26A>G rs80264244 0.03826
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) rs61730895 0.03728
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_002055.5(GFAP):c.141G>A (p.Pro47=) rs2229011 0.03629
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_144687.4(NLRP12):c.289+18C>T rs116129563 0.03610
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_032578.4(MYPN):c.843A>G (p.Pro281=) rs74143022 0.03534
NM_001385.2(DPYS):c.-154C>G rs78426610 0.03517
NM_001385.3(DPYS):c.15G>A (p.Ser5=) rs182332679 0.03516
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_015631.5(TCTN3):c.-47T>G rs41291572 0.03484
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_000350.3(ABCA4):c.4254-38G>A rs17110898 0.03389
NM_016327.3(UPB1):c.105-61A>G rs2232865 0.03375
NM_001034853.2(RPGR):c.620-41T>C rs45486397 0.03373
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_000540.3(RYR1):c.4454+29G>A rs7258503 0.03325
NM_002055.5(GFAP):c.883G>A (p.Asp295Asn) rs1126642 0.03309
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03233
NM_000843.4(GRM6):c.2437-6G>A rs114970739 0.03215
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_000540.3(RYR1):c.10937+39G>A rs2945049 0.03213
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_000843.4(GRM6):c.2134A>G (p.Met712Val) rs17078877 0.03212
NM_000843.4(GRM6):c.2436+46A>C rs17078872 0.03210
NM_000942.5(PPIB):c.63C>A (p.Ser21=) rs4904 0.03210
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_153447.4(NLRP5):c.679+313G>T rs199476225 0.03094
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_052872.4(IL17F):c.463G>A (p.Val155Ile) rs11465553 0.03070
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076 0.03061
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.3329-34A>G rs11810336 0.02890
NM_006121.4(KRT1):c.75C>T (p.Ile25=) rs828367 0.02886
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser) rs61744220 0.02860
NM_000277.2(PAH):c.-147C>T rs62517177 0.02849
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390 0.02837
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_000110.4(DPYD):c.*900T>C rs17470762 0.02724
NM_005732.4(RAD50):c.551+85A>G rs75639632 0.02708
NM_002055.5(GFAP):c.619-96G>T rs62065770 0.02663
NM_001164462.2(MUC12):c.8611G>A (p.Ala2871Thr) rs200303708 0.02644
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246 0.02603
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_002115.3(HK3):c.841G>A (p.Gly281Arg) rs35610191 0.02557
NM_004371.4(COPA):c.1741C>T (p.Leu581=) rs79304843 0.02550
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360 0.02474
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_001385.3(DPYS):c.264+34C>G rs189294405 0.02409
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758 0.02285
NM_002273.4(KRT8):c.1022G>A (p.Arg341His) rs57422427 0.02267
NM_014336.5(AIPL1):c.276+66G>C rs117325136 0.02255
NM_005857.5(ZMPSTE24):c.474+83A>C rs75470795 0.02253
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000540.3(RYR1):c.11908-25C>G rs2292797 0.02197
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile) rs61622928 0.02183
NM_002055.5(GFAP):c.1171+471C>T rs78994946 0.02172
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11908-23C>T rs2292798 0.02144
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_014336.5(AIPL1):c.277-88C>T rs75839062 0.02143
NM_006262.4(PRPH):c.63C>T (p.Phe21=) rs58403142 0.02123
NM_006262.4(PRPH):c.829G>A (p.Ala277Thr) rs62636520 0.02119
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.02117
NM_176869.3(PPA2):c.64A>G (p.Thr22Ala) rs35571699 0.02096
NM_000843.4(GRM6):c.504+66A>C rs62638203 0.02083
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_213599.3(ANO5):c.1630+61T>G rs12574168 0.02075
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_144687.4(NLRP12):c.2243+35C>T rs104895567 0.02036
NM_000249.4(MLH1):c.885-81G>C rs104894999 0.02021
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004393.6(DAG1):c.*2262= rs6446283 0.01906
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_000540.3(RYR1):c.8310+98C>G rs3829976 0.01853
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_002273.4(KRT8):c.1300G>A (p.Gly434Ser) rs58573614 0.01799
NM_213599.3(ANO5):c.2029+147A>G rs7925115 0.01786
NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser) rs17678945 0.01785
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His) rs72875762 0.01764
NM_000110.4(DPYD):c.851-31C>T rs2786491 0.01754
NM_153447.4(NLRP5):c.679+340T>C rs199475771 0.01745
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_033337.2(CAV3):c.-122C>T rs918317 0.01720
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_000277.3(PAH):c.1316-35C>T rs62509021 0.01677
NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) rs41314549 0.01641
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_018035.3(DMAC2):c.688G>A (p.Glu230Lys) rs2231943 0.01583
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_000110.4(DPYD):c.850+41T>C rs112550271 0.01564
NM_006262.4(PRPH):c.1083C>G (p.Leu361=) rs62636517 0.01563
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631 0.01557
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) rs59780231 0.01556
NM_001388492.1(HTT):c.110A>C (p.Gln37Pro) rs587777899 0.01546
NM_005591.4(MRE11):c.1099-217A>G rs104895017 0.01545
NM_012241.5(SIRT5):c.857+3529A>T rs41273886 0.01542
NM_000843.4(GRM6):c.1956C>T (p.Ala652=) rs62638621 0.01532
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01528
NM_152558.5(IQCE):c.212G>A (p.Arg71Gln) rs61736920 0.01521
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_001110792.2(MECP2):c.414-74C>T rs2071569 0.01484
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu) rs149324758 0.01481
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) rs36105360 0.01478
NM_000308.3(CTSA):c.-43G>T rs116893852 0.01437
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_000223.3(KRT12):c.*360A>C rs62065925 0.01366
NM_001385.3(DPYS):c.541C>T (p.Arg181Trp) rs36027551 0.01325
NM_001385.3(DPYS):c.19C>G (p.Leu7Val) rs57732538 0.01314
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_000110.4(DPYD):c.483+18G>A rs56276561 0.01302
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_002485.5(NBN):c.703-29C>T rs104895034 0.01266
NM_213599.3(ANO5):c.2521-29G>A rs12282177 0.01265
NM_000350.3(ABCA4):c.141= (p.Pro47=) rs4847281 0.01254
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181 0.01250
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000350.3(ABCA4):c.1761-50G>A rs61754022 0.01220
NM_031935.3(HMCN1):c.13313-4G>A rs41317497 0.01218
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_006262.4(PRPH):c.1217+27C>A rs200141011 0.01155
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_005857.3(ZMPSTE24):c.-954G>C rs147867849 0.01144
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001385.3(DPYS):c.1062T>C (p.Asp354=) rs35013010 0.01112
NM_000843.4(GRM6):c.352C>A (p.Arg118Ser) rs62638201 0.01102
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077 0.01097
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_005382.2(NEFM):c.2089G>C (p.Gly697Arg) rs59726684 0.01062
NM_016327.3(UPB1):c.873+9C>T rs111674727 0.01060
NM_006343.3(MERTK):c.878G>A (p.Arg293His) rs34072093 0.01044
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_017852.5(NLRP2):c.2202-194G>A rs199475723 0.01023
NM_000942.5(PPIB):c.324C>T (p.Thr108=) rs2307247 0.01016
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_005857.5(ZMPSTE24):c.770-131T>C rs78985808 0.00984
NM_000350.3(ABCA4):c.6729+21C>T rs1800699 0.00981
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_005534.4(IFNGR2):c.74-3672C>T rs121913193 0.00964
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_000348.4(SRD5A2):c.*1356A>C rs28383087 0.00919
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_000895.2(LTA4H):c.*640C>A rs142926035 0.00915
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579 0.00908
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404 0.00905
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) rs35025065 0.00902
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_016599.5(MYOZ2):c.-87A>G rs11559058 0.00888
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_016327.3(UPB1):c.846C>T (p.Phe282=) rs2232867 0.00859
NM_016327.3(UPB1):c.874-64A>G rs2232869 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_000416.2(IFNGR1):c.-255C>T rs121913171 0.00807
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr) rs3737564 0.00806
NM_000540.3(RYR1):c.13514+77C>T rs10405261 0.00800
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_000110.4(DPYD):c.958+36A>G rs114968502 0.00780
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_001110792.2(MECP2):c.413+22C>G rs2075597 0.00778
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_005382.2(NEFM):c.1104T>C (p.Asn368=) rs59419000 0.00772
NM_001320198.2(KRT86):c.197G>A (p.Arg66His) rs57242951 0.00769
NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) rs60782127 0.00769
NM_002078.5(GOLGA4):c.6174A>T (p.Arg2058Ser) rs11924014 0.00763
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe) rs71477812 0.00759
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000717.5(CA4):c.716G>A (p.Arg239Gln) rs76995634 0.00739
NM_001385.3(DPYS):c.1029C>G (p.Thr343=) rs117104587 0.00736
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys) rs182257230 0.00733
NM_005382.2(NEFM):c.1423G>A (p.Ala475Thr) rs61528354 0.00733
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp) rs41305223 0.00731
NM_000843.4(GRM6):c.1566C>T (p.Cys522=) rs62638209 0.00729
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_016327.3(UPB1):c.957G>A (p.Val319=) rs62231899 0.00726
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_000110.4(DPYD):c.151-69G>A rs115632870 0.00703
NM_001276700.2(NLRP6):c.261G>A (p.Arg87=) rs199475796 0.00702
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_000540.3(RYR1):c.7027+27C>T rs3745851 0.00694
NM_001352663.1(NUCB2):c.-431G>A rs182903196 0.00688
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_134424.4(RAD52):c.*395G>A rs104895058 0.00667
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000348.4(SRD5A2):c.*259T>C rs61750400 0.00652
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_003283.6(TNNT1):c.795G>T (p.Arg265=) rs890868 0.00639
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_207352.4(CYP4V2):c.1114G>A (p.Val372Ile) rs61755911 0.00633
NM_134424.4(RAD52):c.186+89C>T rs104895071 0.00628
NM_005382.2(NEFM):c.2174C>A (p.Pro725Gln) rs196863 0.00623
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00607
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_000540.3(RYR1):c.7027+63G>A rs3745852 0.00597
NM_021076.4(NEFH):c.745G>A (p.Gly249Ser) rs60825978 0.00590
NM_031433.4(MFRP):c.975+18T>C rs185451482 0.00589
NM_000843.4(GRM6):c.1953C>T (p.Ala651=) rs62638620 0.00587
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_006757.4(TNNT3):c.414G>A (p.Glu138=) rs2292470 0.00576
NM_016327.3(UPB1):c.365-67G>A rs79571400 0.00570
NM_198529.4(EFCAB5):c.42+1G>A rs201197242 0.00559
NM_031448.6(C19orf12):c.-11+181T>C rs186970109 0.00552
NM_000540.3(RYR1):c.165+74G>C rs2304145 0.00551
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys) rs11554495 0.00545
NM_000526.5(KRT14):c.188= (p.Cys63=) rs1555572096 0.00544
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_001159995.3(NRG1):c.37+903C>T rs367543157 0.00540
NM_002485.5(NBN):c.*401C>G rs104895030 0.00535
NM_002562.6(P2RX7):c.125+1G>T rs35933842 0.00535
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053 0.00533
NM_001354849.1(NOD1):c.-585G>C rs199475895 0.00532
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00521
NM_000350.3(ABCA4):c.302+20C>T rs61753050 0.00508
NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) rs116284141 0.00508
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val) rs62638623 0.00498
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000350.3(ABCA4):c.1761-37G>A rs61754021 0.00491
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_017888.3(ACSM5):c.1157A>C (p.Lys386Thr) rs148243446 0.00490
NM_000350.3(ABCA4):c.3523-28T>C rs55896821 0.00489
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NR_163594.1(SSPO):n.13348A>C rs202144866 0.00473
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000249.4(MLH1):c.791-79A>G rs104894998 0.00459
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_002273.4(KRT8):c.1202+46A>T rs189690662 0.00452
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001276700.2(NLRP6):c.29+250G>A rs199475790 0.00444
NM_001385.3(DPYS):c.1092+9C>T rs138453168 0.00444
NM_182588.3(RGPD4):c.1335G>A (p.Trp445Ter) rs1306583979 0.00444
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln) rs115582620 0.00439
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_005857.4(ZMPSTE24):c.-194A>G rs187549487 0.00437
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001385.3(DPYS):c.765T>C (p.Ala255=) rs35371065 0.00426
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NR_163193.1(TCP10):n.1018G>A rs140649985 0.00424
NM_000350.3(ABCA4):c.4668-38C>T rs61754053 0.00423
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_178844.4(NLRC3):c.1487G>A (p.Arg496Lys) rs199475937 0.00413
NM_006618.5(KDM5B):c.4145G>A (p.Arg1382Gln) rs34216958 0.00411
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr) rs58472472 0.00405
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_016327.3(UPB1):c.976C>A (p.Arg326=) rs113975342 0.00403
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_134424.4(RAD52):c.467+21C>T rs104895070 0.00397
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu) rs111327589 0.00395
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812 0.00394
NM_001385.3(DPYS):c.-104T>C rs541934140 0.00394
NM_002273.4(KRT8):c.955G>T (p.Ala319Ser) rs58912304 0.00394
NM_153447.4(NLRP5):c.2616-24G>A rs199475781 0.00394
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_001199138.2(NLRC4):c.2782+102T>C rs199476299 0.00386
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_001145004.2(GOLGA6L6):c.2038T>G (p.Trp680Gly) rs4932676 0.00383
NM_016327.3(UPB1):c.702C>T (p.Tyr234=) rs74883165 0.00382
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_006951.5(TAF5):c.1226G>A (p.Ser409Asn) rs142451092 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399 0.00373
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_001145263.2(NCOA4):c.1340A>G (p.Lys447Arg) rs61754798 0.00371
NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys) rs34823161 0.00369
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_153460.4(IL17RC):c.952G>A (p.Ala318Thr) rs145516404 0.00366
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.4254-47T>C rs56142328 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_001199138.2(NLRC4):c.2-212C>T rs199476292 0.00356
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NR_163193.1(TCP10):n.943C>T rs200948850 0.00350
NM_001199138.2(NLRC4):c.2-130C>G rs199476293 0.00346
NM_003263.4(TLR1):c.1625T>C (p.Val542Ala) rs137853172 0.00344
NM_005732.4(RAD50):c.2719-31A>G rs104895047 0.00344
NM_001276700.2(NLRP6):c.2105+362T>C rs199475813 0.00341
NM_025150.5(TARS2):c.-22G>A rs201336268 0.00340
NM_178844.4(NLRC3):c.613A>G (p.Ser205Gly) rs199475935 0.00336
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_000416.3(IFNGR1):c.86-76C>T rs121913174 0.00322
NM_134424.4(RAD52):c.967+135G>T rs104895068 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_134444.4(NLRP4):c.*283T>C rs199475756 0.00318
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln) rs41308954 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_030930.4(UNC93B1):c.393-10C>T rs117183629 0.00314
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_002273.4(KRT8):c.187A>G (p.Ile63Val) rs59536457 0.00302
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
NM_153447.4(NLRP5):c.-250C>T rs199475759 0.00297
NM_000251.2(MSH2):c.*392G>A rs104895029 0.00296
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) rs34313388 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_005573.4(LMNB1):c.852T>C (p.Ser284=) rs61726489 0.00288
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) rs62638215 0.00277
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_020661.4(AICDA):c.*446G>A rs104894982 0.00275
NM_153447.4(NLRP5):c.622+403G>C rs199475769 0.00272
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_033540.3(MFN1):c.677G>A (p.Arg226Gln) rs143476739 0.00265
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_176810.2(NLRP13):c.458-188G>A rs199476251 0.00265
NM_005534.4(IFNGR2):c.207-80G>A rs121913199 0.00263
NM_001276700.2(NLRP6):c.2538-36C>A rs199475817 0.00258
NM_014611.3(MDN1):c.16547C>T (p.Ala5516Val) rs34750131 0.00257
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_001159995.3(NRG1):c.37+579G>A rs367543151 0.00243
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00240
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001036.6(RYR3):c.7812C>G (p.Asn2604Lys) rs41279214 0.00237
NM_005591.4(MRE11):c.21-100T>A rs104895020 0.00236
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_138554.5(TLR4):c.842G>A (p.Cys281Tyr) rs137853920 0.00232
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_000552.5(VWF):c.385C>A (p.Leu129Met) rs61753991 0.00225
NM_001110792.2(MECP2):c.413+95G>A rs267608460 0.00223
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_178844.4(NLRC3):c.2940-184G>T rs199476289 0.00215
NM_000619.3(IFNG):c.366+139T>C rs121913164 0.00213
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685 0.00213
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_001276700.2(NLRP6):c.349+103G>A rs199475800 0.00211
NM_001385.3(DPYS):c.1093-47C>A rs192507470 0.00210
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_017852.5(NLRP2):c.2201+215C>A rs199475719 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_133497.4(KCNV2):c.-2C>T rs75316505 0.00207
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu) rs121913208 0.00206
NM_033004.4(NLRP1):c.4057+205G>C rs199476217 0.00204
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_206967.3(C16orf74):c.84_103del (p.Asn29fs) rs767753044 0.00200
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_017852.5(NLRP2):c.3050+257C>T rs199475726 0.00191
NM_152781.4(HEATR9):c.400C>T (p.Arg134Ter) rs116191233 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001983.4(ERCC1):c.843+357C>T rs104894988 0.00189
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys) rs201069984 0.00188
NR_163594.1(SSPO):n.15289G>A rs202079888 0.00188
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_007194.4(CHEK2):c.684-74G>C rs121908712 0.00183
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 0.00183
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000224.3(KRT18):c.500+38G>A rs143051595 0.00176
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_001394198.1(ZNF746):c.527G>A (p.Gly176Asp) rs146308336 0.00173
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001282144.2(NLRX1):c.-37G>C rs199476033 0.00171
NM_001385.3(DPYS):c.264+30G>A rs552354398 0.00169
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_001384950.1(NLRC5):c.424+238C>T rs199475970 0.00165
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_005857.5(ZMPSTE24):c.1059+61G>A rs188058932 0.00163
NM_134424.4(RAD52):c.467+86A>G rs104895069 0.00163
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001384950.1(NLRC5):c.356-122C>T rs199475967 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_033004.4(NLRP1):c.4057+217T>C rs199476218 0.00160
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535 0.00158
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_001276700.2(NLRP6):c.2370-37G>A rs199475815 0.00158
NM_005857.4(ZMPSTE24):c.-46G>A rs200527699 0.00158
NM_005732.4(RAD50):c.3164+35C>T rs104895048 0.00156
NM_005732.4(RAD50):c.366-163T>C rs104895043 0.00156
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_001377265.1(MAPT):c.117G>A (p.Thr39=) rs63750529 0.00154
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001384950.1(NLRC5):c.3920+20C>T rs199476001 0.00153
NM_001159995.3(NRG1):c.37+865G>A rs367543156 0.00151
NM_001036.6(RYR3):c.6617A>C (p.Asn2206Thr) rs181264765 0.00150
NM_005591.4(MRE11):c.1995-94G>A rs104895012 0.00150
NM_007194.4(CHEK2):c.444+24C>T rs121908699 0.00150
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_000843.4(GRM6):c.733A>G (p.Ile245Val) rs62638207 0.00147
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys) rs62638210 0.00146
NM_005382.2(NEFM):c.387T>G (p.Ile129Met) rs59062625 0.00145
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg) rs137854904 0.00142
NM_005382.2(NEFM):c.2572G>A (p.Val858Ile) rs57658073 0.00141
NM_005534.4(IFNGR2):c.984G>A (p.Lys328=) rs121913220 0.00141
NM_134444.5(NLRP4):c.2019-215T>C rs199475749 0.00140
NM_032595.5(PPP1R9B):c.462C>T (p.Ser154=) rs367543202 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000246.4(CIITA):c.2658-138G>A rs199476075 0.00134
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_000110.4(DPYD):c.234-81G>A rs552156826 0.00132
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_170707.4(LMNA):c.937-46A>G rs180926699 0.00131
NM_000350.3(ABCA4):c.3191-20C>T rs61754036 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001282144.2(NLRX1):c.230-91T>C rs199476040 0.00128
NR_163594.1(SSPO):n.11109T>A rs200844215 0.00128
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619 0.00127
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_134424.4(RAD52):c.*453C>T rs104895057 0.00126
NM_001384950.1(NLRC5):c.4920-60G>A rs199476014 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_002273.4(KRT8):c.*38G>A rs267607663 0.00124
NM_133379.5(TTN):c.10411G>A (p.Ala3471Thr) rs149878929 0.00124
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802 0.00123
NM_005591.4(MRE11):c.1995-111G>T rs104895013 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001199138.2(NLRC4):c.2350+283T>C rs199476294 0.00120
NM_002273.4(KRT8):c.1128G>A (p.Glu376=) rs61616174 0.00119
NM_001282144.2(NLRX1):c.70+243G>C rs199476034 0.00117
NM_001384950.1(NLRC5):c.*3G>A rs199476023 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_001385.3(DPYS):c.264+5C>T rs672601293 0.00116
NM_004183.4(BEST1):c.1739+189C>T rs137853901 0.00116
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) rs59328451 0.00116
NM_153447.4(NLRP5):c.1072T>C (p.Leu358=) rs199475773 0.00116
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_002273.4(KRT8):c.*8C>T rs201942002 0.00115
NM_002485.5(NBN):c.172-448A>G rs104895038 0.00115
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_001282144.2(NLRX1):c.230-120T>C rs199476037 0.00113
NM_003151.4(STAT4):c.383A>T (p.Glu128Val) rs140675301 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_005534.4(IFNGR2):c.722-91A>T rs121913215 0.00112
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_134444.5(NLRP4):c.1856+50C>T rs199475747 0.00111
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_001144978.3(MTHFD2L):c.482G>A (p.Gly161Glu) rs144442266 0.00109
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001318789.2(TLR2):c.1906A>C (p.Ser636Arg) rs137853177 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_000224.3(KRT18):c.448A>G (p.Ile150Val) rs59979366 0.00107
NM_000843.4(GRM6):c.1848C>T (p.Val616=) rs62638213 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_001276700.2(NLRP6):c.2538-87G>A rs199475816 0.00106
NM_001384950.1(NLRC5):c.3506+7C>T rs199475995 0.00106
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) rs148080212 0.00105
NM_000416.3(IFNGR1):c.547-131C>T rs121913178 0.00104
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639 0.00104
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000540.3(RYR1):c.3557-74C>T rs3745850 0.00103
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_176810.2(NLRP13):c.2619-11T>A rs199476258 0.00103
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) rs62635774 0.00102
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) rs36026860 0.00100
NM_032578.4(MYPN):c.465C>G (p.Ala155=) rs142867001 0.00099
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_006767.4(LZTR1):c.-11G>A rs370616172 0.00097
NM_000698.5(ALOX5):c.996G>A (p.Pro332=) rs146362560 0.00096
NM_001276700.2(NLRP6):c.2198+35C>T rs199475814 0.00096
NM_001394894.2(NLRP11):c.1842-149C>T rs199476237 0.00096
NM_002485.5(NBN):c.481-168C>T rs104895037 0.00096
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_176810.2(NLRP13):c.457+143T>G rs199476250 0.00095
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_032683.3(MPV17L2):c.32G>A (p.Arg11His) rs186786292 0.00094
NM_133379.5(TTN):c.14489A>G (p.Gln4830Arg) rs144905085 0.00094
NM_000540.3(RYR1):c.2578-23C>G rs2304149 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001394894.2(NLRP11):c.271+53C>G rs199476234 0.00093
NM_005534.4(IFNGR2):c.722-42C>T rs121913216 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_001159995.3(NRG1):c.37+596C>T rs367543152 0.00092
NM_006068.5(TLR6):c.2124G>C (p.Gln708His) rs137853183 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) rs59551486 0.00091
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_001394894.2(NLRP11):c.*85A>G rs199475863 0.00090
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_001276700.2(NLRP6):c.311-15C>A rs199475799 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000277.3(PAH):c.706+17G>T rs62508592 0.00087
NM_001384950.1(NLRC5):c.5321+11G>A rs199476020 0.00087
NM_006092.3(NOD1):c.-523-629C>T rs199475893 0.00087
NM_001384950.1(NLRC5):c.2940-161G>A rs199475988 0.00086
NM_001385.3(DPYS):c.1002G>A (p.Gln334=) rs148318692 0.00086
NM_001394894.2(NLRP11):c.1841+256A>G rs199476236 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser) rs140744818 0.00085
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_004104.5(FASN):c.1850C>T (p.Pro617Leu) rs45444391 0.00085
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_001276700.2(NLRP6):c.582G>A (p.Arg194=) rs199475801 0.00082
NM_153447.4(NLRP5):c.622+266C>A rs199475768 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00081
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_003263.4(TLR1):c.1952T>C (p.Val651Ala) rs137853174 0.00079
NM_178844.4(NLRC3):c.67G>A (p.Glu23Lys) rs199475933 0.00079
NM_000246.4(CIITA):c.3318-176C>T rs199476081 0.00078
NM_006294.5(UQCRB):c.249A>C (p.Lys83Asn) rs145828292 0.00078
NM_019030.4(DHX29):c.629A>G (p.Tyr210Cys) rs149543515 0.00078
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_178844.3(NLRC3):c.-800C>T rs199475928 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00077
NM_000552.5(VWF):c.6938G>A (p.Arg2313His) rs62641242 0.00077
NM_000224.3(KRT18):c.418-4C>G rs267607652 0.00076
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro) rs139172299 0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_153447.4(NLRP5):c.790C>G (p.Gln264Glu) rs199475772 0.00072
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_005382.2(NEFM):c.2153T>C (p.Val718Ala) rs57810298 0.00071
NM_017852.5(NLRP2):c.1209C>T (p.Ile403=) rs199475715 0.00071
NM_134424.4(RAD52):c.*468C>T rs104895056 0.00071
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile) rs189149543 0.00070
NM_001276700.2(NLRP6):c.795G>A (p.Pro265=) rs199475803 0.00070
NM_001384950.1(NLRC5):c.-12-157T>C rs199475965 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_032595.5(PPP1R9B):c.1509C>T (p.Ser503=) rs199601113 0.00070
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_001276700.2(NLRP6):c.851T>C (p.Leu284Pro) rs199475804 0.00069
NM_005382.2(NEFM):c.447G>C (p.Ala149=) rs59222096 0.00069
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00067
NM_176822.4(NLRP14):c.289+28G>A rs199475880 0.00067
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001276700.2(NLRP6):c.2105+139C>T rs199475811 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283 0.00064
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001370466.1(NOD2):c.2381+218A>G rs199475918 0.00063
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_134444.5(NLRP4):c.2697-194C>G rs199475753 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001199138.2(NLRC4):c.2521+132A>T rs199476295 0.00061
NM_001323289.2(CDKL5):c.283-43G>A rs267608448 0.00061
NM_032776.3(JMJD1C):c.1120G>C (p.Asp374His) rs200016210 0.00061
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr) rs150984011 0.00061
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_006172.4(NPPA):c.352C>A (p.Leu118Met) rs147081122 0.00060
NM_021930.6(RINT1):c.388G>A (p.Ala130Thr) rs138345617 0.00060
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000350.3(ABCA4):c.4352+13G>A rs61754048 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_014825.3(URB1):c.1214C>T (p.Pro405Leu) rs187485893 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001370466.1(NOD2):c.2381+199A>G rs199475917 0.00058
NM_001370466.1(NOD2):c.2717+148A>G rs199475922 0.00058
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_001199138.1(NLRC4):c.-1330G>T rs199475950 0.00057
NM_001370466.1(NOD2):c.*80T>C rs199475924 0.00057
NM_000110.4(DPYD):c.2766+19A>G rs375268978 0.00056
NM_000416.3(IFNGR1):c.*140G>A rs121913189 0.00056
NM_001110792.2(MECP2):c.414-61C>G rs191076920 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_058179.4(PSAT1):c.445G>A (p.Val149Met) rs142975997 0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_001370466.1(NOD2):c.-8-2406T>C rs199475908 0.00055
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=) rs61750388 0.00054
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_017852.5(NLRP2):c.2201+247G>A rs199475720 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met) rs199473087 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile) rs142153692 0.00053
NM_001384950.1(NLRC5):c.5237+51G>A rs199476017 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_001370466.1(NOD2):c.-8-2335G>C rs199475910 0.00051
NM_001708.2(OPN1SW):c.587G>A (p.Arg196His) rs148243232 0.00051
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_004183.4(BEST1):c.1740-27T>C rs62640569 0.00051
NM_005857.3(ZMPSTE24):c.-370G>T rs312262683 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_000246.3(CIITA):c.-479C>T rs199476057 0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_032595.5(PPP1R9B):c.1332C>T (p.Ala444=) rs200300107 0.00049
NM_052850.4(GADD45GIP1):c.26G>A (p.Arg9His) rs375539782 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_001394894.2(NLRP11):c.1842-6A>G rs199476239 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_000416.3(IFNGR1):c.*450C>T rs121913191 0.00046
NM_001243133.2(NLRP3):c.-460G>A rs199475727 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001391958.1(NLRP10):c.1410G>A (p.Gln470=) rs199475855 0.00046
NM_000350.3(ABCA4):c.5196+20G>A rs55715124 0.00045
NM_001276700.2(NLRP6):c.1878C>T (p.Tyr626=) rs199475808 0.00045
NM_002273.4(KRT8):c.*31C>T rs267607662 0.00045
NM_176811.2(NLRP8):c.2706-53T>C rs199475845 0.00045
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000619.3(IFNG):c.366+350A>T rs121913165 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_001243133.2(NLRP3):c.398-85C>T rs199475732 0.00043
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) rs148060787 0.00043
NM_006080.3(SEMA3A):c.196C>T (p.Arg66Trp) rs199979628 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu) rs35424122 0.00043
NM_001330552.1(NLRC5):c.-1074G>A rs199475959 0.00042
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_016327.3(UPB1):c.143C>G (p.Ser48Cys) rs145989498 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001384950.1(NLRC5):c.2418-213C>T rs199475979 0.00041
NM_007208.4(MRPL3):c.1033A>G (p.Ile345Val) rs143176048 0.00041
NM_017852.5(NLRP2):c.2879+173G>A rs199475725 0.00041
NM_018662.3(DISC1):c.2063G>A (p.Gly688Glu) rs367543094 0.00041
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) rs114496656 0.00041
NM_176821.3(NLRP10):c.-452T>G rs199475851 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_004102.5(FABP3):c.246+16_246+17del rs483352874 0.00040
NM_032578.4(MYPN):c.2190G>A (p.Thr730=) rs71584492 0.00040
NM_000329.3(RPE65):c.644-42del rs61752893 0.00039
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545 0.00039
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00039
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_133379.5(TTN):c.13792C>T (p.Pro4598Ser) rs145996491 0.00039
NM_153447.4(NLRP5):c.2572T>C (p.Cys858Arg) rs199475780 0.00039
NM_000246.4(CIITA):c.3063-163T>C rs199476078 0.00038
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000619.3(IFNG):c.115-156A>G rs121913163 0.00038
NM_001243133.2(NLRP3):c.397+139T>C rs199475731 0.00038
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val) rs281875280 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_033004.4(NLRP1):c.448+292C>T rs199476209 0.00038
NM_176811.2(NLRP8):c.2332C>A (p.Leu778Ile) rs199475842 0.00038
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016 0.00037
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625 0.00037
NM_001036.6(RYR3):c.9581G>A (p.Arg3194His) rs377341748 0.00037
NM_001159995.3(NRG1):c.37+661G>A rs367543153 0.00037
NM_006068.5(TLR6):c.1325A>C (p.Asp442Ala) rs137853182 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_001256643.1(LTA4H):c.88-6908C>T rs281860641 0.00036
NM_005534.4(IFNGR2):c.413-59A>G rs121913205 0.00036
NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile) rs77401427 0.00036
NM_033004.4(NLRP1):c.-159C>T rs199475699 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) rs151150961 0.00035
NM_020661.4(AICDA):c.*1934C>T rs104894981 0.00035
NM_176810.2(NLRP13):c.2958G>A (p.Gly986=) rs199475878 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000416.3(IFNGR1):c.1027G>A (p.Val343Met) rs121913185 0.00034
NM_000416.3(IFNGR1):c.373+116T>C rs121913175 0.00034
NM_000843.4(GRM6):c.1766C>T (p.Pro589Leu) rs62638212 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001127255.1(NLRP7):c.-213G>T rs199475819 0.00034
NM_006906.2(PTPN5):c.103C>A (p.Pro35Thr) rs367543236 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_176810.2(NLRP13):c.319+45C>T rs199476249 0.00034
NM_000224.3(KRT18):c.383A>T (p.His128Leu) rs57758506 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455 0.00033
NM_001384950.1(NLRC5):c.2075+154T>C rs199475977 0.00033
NM_001394894.2(NLRP11):c.1842-128T>C rs199476238 0.00033
NM_001770.6(CD19):c.527C>T (p.Pro176Leu) rs148200569 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg) rs142619737 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000843.4(GRM6):c.261C>T (p.Pro87=) rs62638199 0.00032
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_138995.5(MYO3B):c.800A>G (p.Asn267Ser) rs34509373 0.00032
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg) rs144395748 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000484.4(APP):c.2017G>A (p.Ala673Thr) rs63750847 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_002739.5(PRKCG):c.714C>T (p.Arg238=) rs367543210 0.00031
NM_004688.3(NMI):c.912C>A (p.Tyr304Ter) rs150664393 0.00031
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_021076.4(NEFH):c.269C>T (p.Ala90Val) rs61556467 0.00030
NM_176811.2(NLRP8):c.368-197C>A rs199475834 0.00030
NM_000062.3(SERPING1):c.686-9T>C rs141593943 0.00029
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_001036.6(RYR3):c.9799C>T (p.Pro3267Ser) rs182972491 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787 0.00029
NM_005534.4(IFNGR2):c.207-636C>T rs121913194 0.00029
NM_018662.3(DISC1):c.1518A>G (p.Pro506=) rs367543091 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_032595.5(PPP1R9B):c.1112C>T (p.Ala371Val) rs367543188 0.00029
NM_153447.4(NLRP5):c.3299+30C>T rs199475787 0.00029
NM_176810.2(NLRP13):c.2112-208G>A rs199476254 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala) rs780846548 0.00028
NM_004614.5(TK2):c.80C>T (p.Ser27Leu) rs191573607 0.00028
NM_005534.4(IFNGR2):c.721+173A>C rs121913214 0.00028
NM_024330.4(SLC27A3):c.878-24C>T rs151180786 0.00028
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) rs199517469 0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_005534.4(IFNGR2):c.562-93C>T rs121913211 0.00027
NM_006262.4(PRPH):c.*82C>A rs7137584 0.00027
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg) rs367577346 0.00027
NM_176822.4(NLRP14):c.2805-162C>T rs199475887 0.00027
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00026
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_001243133.2(NLRP3):c.2834+12G>C rs199475736 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_003263.4(TLR1):c.2020G>A (p.Val674Ile) rs137853175 0.00026
NM_032595.5(PPP1R9B):c.1590C>T (p.Thr530=) rs201313568 0.00026
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000249.4(MLH1):c.117-109A>G rs104894995 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn) rs372263729 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001282144.2(NLRX1):c.141-216G>A rs199476036 0.00025
NM_001394894.2(NLRP11):c.1841+73A>G rs199476235 0.00025
NM_002273.4(KRT8):c.1138G>A (p.Val380Ile) rs56997521 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_005382.2(NEFM):c.1006G>A (p.Gly336Ser) rs56902012 0.00025
NM_021076.4(NEFH):c.1138G>A (p.Ala380Thr) rs201416955 0.00025
NM_032595.5(PPP1R9B):c.416A>C (p.His139Pro) rs367543203 0.00025
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val) rs72647901 0.00025
NM_144991.3(TSPEAR):c.542+15G>A rs587599565 0.00025
NM_153447.4(NLRP5):c.623-87A>G rs199475770 0.00025
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) rs62636282 0.00025
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg) rs149338401 0.00024
NM_000224.3(KRT18):c.890C>T (p.Thr297Ile) rs115810585 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_000619.3(IFNG):c.366+360G>C rs121913166 0.00024
NM_001278669.2(NFATC1):c.860C>T (p.Pro287Leu) rs200533002 0.00024
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=) rs63750811 0.00024
NM_005857.5(ZMPSTE24):c.1035A>G (p.Thr345=) rs116496835 0.00024
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000238.4(KCNH2):c.707G>T (p.Gly236Val) rs199472870 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=) rs367543138 0.00023
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_138713.4(NFAT5):c.2204A>T (p.Gln735Leu) rs189877263 0.00023
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001482.3(GATM):c.701A>G (p.Asp234Gly) rs146057680 0.00022
NM_001983.4(ERCC1):c.322-123G>A rs104894991 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664 0.00022
NM_018662.3(DISC1):c.2550C>T (p.His850=) rs367543100 0.00022
NM_020925.4(CACHD1):c.293G>A (p.Arg98His) rs201614737 0.00022
NM_138395.4(MARS2):c.697A>G (p.Ile233Val) rs150082953 0.00022
NM_176822.4(NLRP14):c.3147-109T>C rs199475891 0.00022
NM_178844.3(NLRC3):c.-558C>A rs199475930 0.00022
NM_000110.4(DPYD):c.1905C>T (p.Asn635=) rs3918289 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_002037.5(FYN):c.984G>A (p.Gln328=) rs367543107 0.00021
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser) rs137853908 0.00021
NM_017852.5(NLRP2):c.1386G>A (p.Thr462=) rs199475716 0.00021
NM_019078.2(UGT1A5):c.695del (p.Ala232fs) rs369685158 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_178844.4(NLRC3):c.-341G>T rs199475932 0.00021
NM_201253.3(CRB1):c.430T>G (p.Phe144Val) rs62636262 0.00021
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000246.3(CIITA):c.-521A>G rs199476056 0.00020
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000554.6(CRX):c.549G>A (p.Gly183=) rs61748451 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001384950.1(NLRC5):c.3506+149T>C rs199475996 0.00020
NM_001384950.1(NLRC5):c.4070+43G>A rs199476004 0.00020
NM_007194.4(CHEK2):c.1008+71A>G rs121908713 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr) rs318240760 0.00020
NM_021228.3(SCAF1):c.457G>T (p.Ala153Ser) rs138792343 0.00020
NM_000110.4(DPYD):c.2049C>G (p.Ala683=) rs183475941 0.00019
NM_000110.4(DPYD):c.525G>A (p.Ser175=) rs6670886 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000246.4(CIITA):c.207C>G (p.Asp69Glu) rs199476061 0.00019
NM_000251.3(MSH2):c.1661+176A>G rs104895025 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000540.3(RYR1):c.1123-11C>T rs3745845 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001290187.2(KRBA1):c.1031-4G>A rs376784656 0.00019
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=) rs199475914 0.00019
NM_001370466.1(NOD2):c.2550-316A>G rs199475921 0.00019
NM_001384950.1(NLRC5):c.*245C>T rs199476024 0.00019
NM_001384950.1(NLRC5):c.3339-404C>T rs199475994 0.00019
NM_001384950.1(NLRC5):c.5405+140G>A rs199476021 0.00019
NM_001385.3(DPYS):c.1092+38C>T rs371343634 0.00019
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00019
NM_005382.2(NEFM):c.104T>A (p.Phe35Tyr) rs60857059 0.00019
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_198443.2(NRN1L):c.345C>A (p.Cys115Ter) rs143671493 0.00019
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000348.4(SRD5A2):c.696T>C (p.His232=) rs9332965 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000540.3(RYR1):c.13254C>A (p.Gly4418=) rs193922857 0.00018
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg) rs61750598 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_002273.4(KRT8):c.1392G>T (p.Lys464Asn) rs201507031 0.00018
NM_007327.4(GRIN1):c.2214C>T (p.Phe738=) rs367543116 0.00018
NM_018117.12(WDR11):c.1343G>A (p.Arg448Gln) rs144440500 0.00018
NM_176820.4(NLRP9):c.1022G>T (p.Trp341Leu) rs199475847 0.00018
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_002228.4(JUN):c.658C>G (p.Pro220Ala) rs377289876 0.00017
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429 0.00017
NM_000100.3(CSTB):c.-42C>T rs776181852 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000350.3(ABCA4):c.2127G>A (p.Ser709=) rs61754025 0.00016
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000440.3(PDE6A):c.879G>A (p.Pro293=) rs137853899 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000552.5(VWF):c.1781C>G (p.Ala594Gly) rs267607308 0.00016
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000553.6(WRN):c.4191G>A (p.Glu1397=) rs369276959 0.00016
NM_000834.5(GRIN2B):c.3648C>T (p.Arg1216=) rs201405157 0.00016
NM_000843.4(GRM6):c.1887C>T (p.Thr629=) rs62638216 0.00016
NM_001033053.3(NLRP1):c.*351T>A rs199475705 0.00016
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr) rs200321239 0.00016
NM_001384950.1(NLRC5):c.3203+100G>C rs199475990 0.00016
NM_001391958.1(NLRP10):c.1887T>C (p.Asp629=) rs199475856 0.00016
NM_001391958.1(NLRP10):c.217G>A (p.Val73Ile) rs199475853 0.00016
NM_001482.3(GATM):c.692C>G (p.Ser231Cys) rs202225656 0.00016
NM_003263.4(TLR1):c.1378A>G (p.Ile460Val) rs137853171 0.00016
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) rs80358249 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_005245.4(FAT1):c.9095T>C (p.Ile3032Thr) rs34805028 0.00016
NM_006092.4(NOD1):c.2201+36C>T rs199476264 0.00016
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_138441.3(CGAS):c.265_266dup (p.Gln89fs) rs749545076 0.00016
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu) rs142060916 0.00016
NM_145007.5(NLRP11):c.-284-50A>G rs199475857 0.00016
NM_176810.2(NLRP13):c.1530G>A (p.Val510=) rs199475875 0.00016
NM_178844.4(NLRC3):c.179-40C>A rs199476276 0.00016
NM_000552.5(VWF):c.2344C>T (p.Arg782Trp) rs61748471 0.00015
NM_000552.5(VWF):c.4024C>T (p.Arg1342Cys) rs61749404 0.00015
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter) rs199475953 0.00015
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_001384950.1(NLRC5):c.5238-50C>T rs199476018 0.00015
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_024721.5(ZFHX4):c.5362G>A (p.Val1788Ile) rs200415399 0.00015
NM_032737.4(LMNB2):c.265-6C>T rs267607650 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser) rs199473116 0.00014
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) rs9332966 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000416.3(IFNGR1):c.864C>G (p.Ile288Met) rs121913184 0.00014
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000834.5(GRIN2B):c.2712G>A (p.Thr904=) rs199843136 0.00014
NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser) rs538247883 0.00014
NM_001127255.2(NLRP7):c.719G>A (p.Ser240Asn) rs199475824 0.00014
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402 0.00014
NM_001323289.2(CDKL5):c.463+22T>C rs267608478 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001983.4(ERCC1):c.106-73A>G rs104894992 0.00014
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_006092.4(NOD1):c.2285+220T>A rs199476270 0.00014
NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly) rs781907239 0.00014
NM_032595.5(PPP1R9B):c.2238G>A (p.Ala746=) rs367543183 0.00014
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000540.3(RYR1):c.2223C>T (p.Asp741=) rs150831055 0.00013
NM_000619.3(IFNG):c.367-419T>C rs121913167 0.00013
NM_001135179.2(ZDHHC3):c.86A>G (p.Tyr29Cys) rs367543251 0.00013
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg) rs371090975 0.00013
NM_001276700.2(NLRP6):c.30-85G>A rs199475793 0.00013
NM_001282144.2(NLRX1):c.2354+248A>G rs199476050 0.00013
NM_001282144.2(NLRX1):c.560G>A (p.Arg187Gln) rs199476041 0.00013
NM_001282358.1(NLRX1):c.-175G>A rs199476027 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_002739.5(PRKCG):c.1029A>G (p.Pro343=) rs367543215 0.00013
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) rs318240751 0.00013
NM_006092.4(NOD1):c.2537+169A>C rs199476273 0.00013
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_014989.7(RIMS1):c.5053A>G (p.Thr1685Ala) rs200035429 0.00013
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) rs201379287 0.00013
NM_153447.4(NLRP5):c.-9G>A rs199475762 0.00013
NM_178844.4(NLRC3):c.1581C>T (p.Ala527=) rs199475938 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000348.4(SRD5A2):c.281+20G>A rs61750392 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000552.5(VWF):c.6599-20A>T rs61750621 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001384950.1(NLRC5):c.4407-9C>A rs199476008 0.00012
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
NM_006906.2(PTPN5):c.603C>T (p.Ile201=) rs367543231 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_176822.4(NLRP14):c.3146+24G>C rs199475890 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000224.3(KRT18):c.884C>T (p.Thr295Met) rs267607418 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001159995.3(NRG1):c.37+676C>A rs367543154 0.00011
NM_001276700.2(NLRP6):c.966G>C (p.Leu322=) rs199475805 0.00011
NM_001282144.2(NLRX1):c.2579G>A (p.Arg860Gln) rs199476053 0.00011
NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter) rs200347609 0.00011
NM_002708.4(PPP1CA):c.286A>C (p.Arg96=) rs367543171 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_006092.4(NOD1):c.254T>A (p.Phe85Tyr) rs199475897 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_022124.6(CDH23):c.8411A>G (p.Lys2804Arg) rs137853912 0.00011
NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln) rs137853916 0.00011
NM_032122.5(DTNBP1):c.1019A>G (p.Glu340Gly) rs367543102 0.00011
NM_032122.5(DTNBP1):c.1020G>C (p.Glu340Asp) rs367543101 0.00011
NM_032595.5(PPP1R9B):c.1137A>G (p.Val379=) rs199865066 0.00011
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905 0.00011
NM_153447.4(NLRP5):c.2447+157G>A rs199475779 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_176820.4(NLRP9):c.2843+28G>A rs199476231 0.00011
NM_000110.4(DPYD):c.2161G>A (p.Ala721Thr) rs145548112 0.00010
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000348.4(SRD5A2):c.151G>A (p.Ala51Thr) rs61748123 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000552.5(VWF):c.1533+15G>A rs184217564 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_001159995.3(NRG1):c.37+744C>T rs367543155 0.00010
NM_001243133.2(NLRP3):c.2151-126G>A rs199476223 0.00010
NM_001243133.2(NLRP3):c.3005+129T>C rs199475737 0.00010
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566 0.00010
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu) rs371752190 0.00010
NM_001267550.2(TTN):c.47412G>T (p.Arg15804Ser) rs759143403 0.00010
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His) rs199895320 0.00010
NM_001276700.2(NLRP6):c.184G>A (p.Val62Met) rs199475795 0.00010
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter) rs62637037 0.00010
NM_001384950.1(NLRC5):c.2477+34T>C rs199475981 0.00010
NM_001384950.1(NLRC5):c.3113+100G>A rs199476300 0.00010
NM_001384950.1(NLRC5):c.4919+131G>A rs199476013 0.00010
NM_001939.3(DRP2):c.1927G>A (p.Ala643Thr) rs774673009 0.00010
NM_002055.5(GFAP):c.1140C>T (p.Pro380=) rs267607527 0.00010
NM_003465.3(CHIT1):c.1125C>A (p.Tyr375Ter) rs149987600 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005857.5(ZMPSTE24):c.1312C>T (p.Leu438Phe) rs116771294 0.00010
NM_006158.5(NEFL):c.1560C>A (p.Thr520=) rs267607677 0.00010
NM_006906.2(PTPN5):c.116T>C (p.Val39Ala) rs367543234 0.00010
NM_018117.12(WDR11):c.2932A>C (p.Lys978Gln) rs144531702 0.00010
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00010
NM_032595.5(PPP1R9B):c.336G>A (p.Lys112=) rs367543204 0.00010
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723 0.00010
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00010
NM_133379.5(TTN):c.16075A>G (p.Met5359Val) rs372044281 0.00010
NM_153447.4(NLRP5):c.2447+122A>G rs199475778 0.00010
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr) rs201884120 0.00010
NM_176810.2(NLRP13):c.2619-7C>A rs199476259 0.00010
NM_176820.4(NLRP9):c.2672+114C>T rs199476230 0.00010
NM_178844.4(NLRC3):c.1882G>A (p.Val628Ile) rs199475941 0.00010
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345 0.00009
NM_000246.4(CIITA):c.1007-94A>G rs199476067 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000348.4(SRD5A2):c.162C>T (p.Phe54=) rs61748133 0.00009
NM_000348.4(SRD5A2):c.273C>T (p.Tyr91=) rs61750390 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197 0.00009
NM_001159995.3(NRG1):c.37+913G>T rs367543158 0.00009
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277 0.00009
NM_001282144.2(NLRX1):c.1656C>T (p.Leu552=) rs199476048 0.00009
NM_001282144.2(NLRX1):c.2528C>T (p.Ala843Val) rs199476052 0.00009
NM_001394065.1(CCDC190):c.88C>T (p.Gln30Ter) rs756079140 0.00009
NM_004870.3(MPDU1):c.-36C>T rs370389790 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005382.2(NEFM):c.837C>A (p.Ser279Arg) rs57688534 0.00009
NM_005591.4(MRE11):c.*656T>C rs104895009 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_006092.4(NOD1):c.-121-85G>C rs199476262 0.00009
NM_006757.4(TNNT3):c.328C>T (p.Arg110Cys) rs144957238 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007327.4(GRIN1):c.2445G>A (p.Gly815=) rs367543117 0.00009
NM_014336.5(AIPL1):c.277-2A>G rs140808549 0.00009
NM_018671.5(UNC45A):c.641C>T (p.Ala214Val) rs199984374 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_033004.4(NLRP1):c.3521-107G>A rs199476213 0.00009
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro) rs115263053 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_178844.4(NLRC3):c.363C>T (p.Thr121=) rs199475934 0.00009
NC_000016.10:g.56989465C>G rs199475964 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val) rs41310765 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_001127255.2(NLRP7):c.516C>T (p.Tyr172=) rs199475823 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001199138.2(NLRC4):c.1122C>T (p.Asn374=) rs199475954 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_004183.4(BEST1):c.*89dup rs281865284 0.00008
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_058179.4(PSAT1):c.733T>C (p.Cys245Arg) rs1305396127 0.00008
NM_178844.3(NLRC3):c.-700G>C rs199475929 0.00008
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000249.4(MLH1):c.545+19G>T rs41285099 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg) rs199473186 0.00007
NM_000350.3(ABCA4):c.2472C>T (p.Ile824=) rs61749434 0.00007
NM_000416.3(IFNGR1):c.1034A>G (p.His345Arg) rs121913186 0.00007
NM_000552.5(VWF):c.3281T>C (p.Ile1094Thr) rs267607317 0.00007
NM_001243925.2(MAPKAPK3):c.824A>G (p.Glu275Gly) rs377010404 0.00007
NM_001384950.1(NLRC5):c.4584-134G>A rs199476010 0.00007
NM_001444.3(FABP5):c.371A>G (p.Asn124Ser) rs431905491 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_002276.5(KRT19):c.552C>T (p.Asn184=) rs267607655 0.00007
NM_005534.4(IFNGR2):c.413-92T>C rs121913203 0.00007
NM_005534.4(IFNGR2):c.889G>A (p.Asp297Asn) rs121913219 0.00007
NM_006092.4(NOD1):c.-234G>A rs199475896 0.00007
NM_006158.5(NEFL):c.1458C>T (p.Ala486=) rs61726486 0.00007
NM_006248.4(PRB2):c.511C>T (p.Arg171Ter) rs201606820 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_032578.4(MYPN):c.2642A>T (p.Asn881Ile) rs71584493 0.00007
NM_032578.4(MYPN):c.420T>C (p.Tyr140=) rs71578990 0.00007
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) rs57521499 0.00007
NM_033004.4(NLRP1):c.2529-18G>T rs199476210 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_138329.2(NLRP6):c.-166G>A rs199475788 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_176810.2(NLRP13):c.2037G>T (p.Lys679Asn) rs199475876 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000128.4(F11):c.683G>A (p.Arg228Gln) rs281875246 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000224.3(KRT18):c.993C>T (p.Tyr331=) rs58138700 0.00006
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135 0.00006
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr) rs199476070 0.00006
NM_000249.3(MLH1):c.-32C>G rs1016433173 0.00006
NM_000249.4(MLH1):c.207+12C>T rs121909450 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000335.5(SCN5A):c.101G>A (p.Arg34His) rs199473046 0.00006
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000348.4(SRD5A2):c.*821A>T rs61750401 0.00006
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410 0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.302+1G>A rs61751413 0.00006
NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn) rs61750127 0.00006
NM_000350.3(ABCA4):c.3940C>A (p.Pro1314Thr) rs61754041 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.5019-32G>A rs113014755 0.00006
NM_000350.3(ABCA4):c.5312+45G>T rs61754059 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu) rs193922817 0.00006
NM_000552.5(VWF):c.4747C>T (p.Arg1583Trp) rs61750116 0.00006
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter) rs62643640 0.00006
NM_000552.5(VWF):c.7552G>A (p.Gly2518Ser) rs61751293 0.00006
NM_000783.4(CYP26A1):c.905A>G (p.His302Arg) rs777202473 0.00006
NM_000843.4(GRM6):c.721+83G>T rs62638206 0.00006
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 0.00006
NM_001105206.3(LAMA4):c.1960-3T>C rs373682270 0.00006
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124 0.00006
NM_001199138.2(NLRC4):c.1530A>G (p.Ala510=) rs199475955 0.00006
NM_001199267.2(DGKZ):c.554G>A (p.Arg185Gln) rs372061661 0.00006
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln) rs573695008 0.00006
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile) rs749503285 0.00006
NM_001267550.2(TTN):c.83279A>T (p.Asn27760Ile) rs200714263 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001276700.2(NLRP6):c.1665G>A (p.Arg555=) rs199475807 0.00006
NM_001276700.2(NLRP6):c.30-20C>G rs199475794 0.00006
NM_001276700.2(NLRP6):c.30-335G>A rs199475791 0.00006
NM_001282144.2(NLRX1):c.1608A>C (p.Val536=) rs199476047 0.00006
NM_001282358.2(NLRX1):c.-54C>T rs199476029 0.00006
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652 0.00006
NM_001367479.1(DNAH14):c.11777-2A>G rs984710416 0.00006
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile) rs63750869 0.00006
NM_001384950.1(NLRC5):c.3338+50C>T rs199475992 0.00006
NM_001482.3(GATM):c.277A>G (p.Ile93Val) rs34991226 0.00006
NM_001629.4(ALOX5AP):c.323+2451T>C rs281864911 0.00006
NM_001747.4(CAPG):c.454G>T (p.Glu152Ter) rs142762000 0.00006
NM_002055.5(GFAP):c.343G>A (p.Val115Ile) rs56746197 0.00006
NM_002386.4(MC1R):c.793G>A (p.Val265Ile) rs587783376 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004393.6(DAG1):c.1773C>T (p.Phe591=) rs2229010 0.00006
NM_005094.4(SLC27A4):c.1237G>A (p.Val413Met) rs367871179 0.00006
NM_005094.4(SLC27A4):c.1904G>A (p.Arg635His) rs587776386 0.00006
NM_005534.4(IFNGR2):c.74-3937C>T rs121913192 0.00006
NM_005751.5(AKAP9):c.9943A>G (p.Thr3315Ala) rs747162821 0.00006
NM_006092.4(NOD1):c.1458C>T (p.Ser486=) rs199475902 0.00006
NM_006158.5(NEFL):c.1590T>G (p.Val530=) rs267607679 0.00006
NM_006906.2(PTPN5):c.132C>T (p.Asp44=) rs367543233 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His) rs753924410 0.00006
NM_015106.4(RAD54L2):c.3841G>A (p.Val1281Met) rs754407997 0.00006
NM_017852.5(NLRP2):c.2201+456G>A rs199475721 0.00006
NM_018662.3(DISC1):c.1729A>G (p.Lys577Glu) rs367543093 0.00006
NM_018662.3(DISC1):c.2295T>A (p.Gly765=) rs367543098 0.00006
NM_018662.3(DISC1):c.768C>T (p.His256=) rs367543085 0.00006
NM_020485.8(RHCE):c.307C>T (p.Pro103Ser) rs676785 0.00006
NM_024330.4(SLC27A3):c.1161+5G>A rs149362751 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_032192.4(PPP1R1B):c.72G>A (p.Gln24=) rs367543178 0.00006
NM_032444.4(SLX4):c.-46G>A rs113023461 0.00006
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826 0.00006
NM_032578.4(MYPN):c.1840G>A (p.Glu614Lys) rs143338091 0.00006
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036 0.00006
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr) rs764335664 0.00006
NM_139027.6(ADAMTS13):c.1816G>C (p.Ala606Pro) rs281875290 0.00006
NM_144687.4(NLRP12):c.290-33G>A rs199476242 0.00006
NM_153447.4(NLRP5):c.-91G>A rs199475760 0.00006
NM_153447.4(NLRP5):c.1417G>A (p.Val473Met) rs199475776 0.00006
NM_153447.4(NLRP5):c.2787-133C>T rs199475782 0.00006
NM_153447.4(NLRP5):c.443-72C>T rs199475764 0.00006
NM_153447.4(NLRP5):c.622+253G>A rs199475767 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_178844.4(NLRC3):c.1782G>A (p.Arg594=) rs199475939 0.00006
NM_178844.4(NLRC3):c.2183+374G>C rs199476283 0.00006
NM_178844.4(NLRC3):c.2184-293G>C rs199476284 0.00006
NM_178844.4(NLRC3):c.2583C>G (p.Asn861Lys) rs199475943 0.00006
NM_198291.3(SRC):c.1263G>A (p.Ala421=) rs367543245 0.00006
NM_198291.3(SRC):c.12C>T (p.Asn4=) rs367543237 0.00006
NM_198291.3(SRC):c.1323C>A (p.Arg441=) rs367543246 0.00006
NM_198291.3(SRC):c.727C>T (p.Arg243Cys) rs367543241 0.00006
NM_198291.3(SRC):c.846C>T (p.Gly282=) rs367543242 0.00006
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000246.3(CIITA):c.-415C>T rs199476058 0.00005
NM_000273.3(GPR143):c.697G>A (p.Glu233Lys) rs62635038 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00005
NM_000348.3(SRD5A2):c.-383G>A rs61748130 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.2383-10C>G rs61754026 0.00005
NM_000350.3(ABCA4):c.2703A>G (p.Thr901=) rs61749442 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000552.5(VWF):c.2635G>A (p.Asp879Asn) rs61748485 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.6433C>T (p.Pro2145Ser) rs61750618 0.00005
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564 0.00005
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624 0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_001093.4(ACACB):c.6964G>A (p.Ala2322Thr) rs587776495 0.00005
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) rs267608336 0.00005
NM_001267550.2(TTN):c.107093T>C (p.Leu35698Pro) rs794729570 0.00005
NM_001276700.2(NLRP6):c.30-271C>G rs199475792 0.00005
NM_001276700.2(NLRP6):c.786G>C (p.Ala262=) rs199475802 0.00005
NM_001323289.2(CDKL5):c.2377-31T>C rs267608658 0.00005
NM_001323289.2(CDKL5):c.978-23T>C rs267608555 0.00005
NM_001393586.1(MYO7B):c.5141C>T (p.Pro1714Leu) rs551533460 0.00005
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_002087.4(GRN):c.102C>T (p.Pro34=) rs63751074 0.00005
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp) rs200896834 0.00005
NM_005534.4(IFNGR2):c.207-123G>T rs121913197 0.00005
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) rs104895051 0.00005
NM_013964.5(NRG1):c.1322C>T (p.Thr441Met) rs367543167 0.00005
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926 0.00005
NM_014370.4(SRPK3):c.1337T>G (p.Ile446Ser) rs1557068452 0.00005
NM_014611.3(MDN1):c.4613A>C (p.Asn1538Thr) rs202131758 0.00005
NM_017852.5(NLRP2):c.281-20C>T rs199475709 0.00005
NM_032776.3(JMJD1C):c.5930A>G (p.Asn1977Ser) rs1004778606 0.00005
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp) rs150812587 0.00005
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) rs140897665 0.00005
NM_058179.4(PSAT1):c.638G>A (p.Arg213His) rs759482379 0.00005
NM_170707.4(LMNA):c.1803C>T (p.Ser601=) rs267607604 0.00005
NM_172370.5(DAOA):c.434A>G (p.Lys145Arg) rs367543081 0.00005
NM_198525.3(KIF7):c.3785G>T (p.Arg1262Leu) rs561205514 0.00005
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376 0.00005
NM_000021.4(PSEN1):c.1073G>A (p.Arg358Gln) rs63751174 0.00004
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000110.4(DPYD):c.2180-44T>C rs672601280 0.00004
NM_000110.4(DPYD):c.2329G>T (p.Ala777Ser) rs672601276 0.00004
NM_000128.4(F11):c.127G>A (p.Ala43Thr) rs281875264 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656 0.00004
NM_000179.3(MSH6):c.-25C>T rs1064793670 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000218.3(KCNQ1):c.385G>A (p.Val129Ile) rs199472683 0.00004
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser) rs34320941 0.00004
NM_000224.3(KRT18):c.854A>G (p.Gln285Arg) rs59112368 0.00004
NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn) rs199473023 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg) rs61753025 0.00004
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000455.5(STK11):c.316C>T (p.Arg106Trp) rs587782115 0.00004
NM_000484.4(APP):c.2138C>T (p.Ala713Val) rs1800557 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439 0.00004
NM_000554.6(CRX):c.818C>T (p.Thr273Met) rs281865203 0.00004
NM_000692.5(ALDH1B1):c.319C>T (p.Arg107Cys) rs770857076 0.00004
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr) rs62638208 0.00004
NM_001036.6(RYR3):c.9625G>A (p.Asp3209Asn) rs536504096 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu) rs367543120 0.00004
NM_001243133.2(NLRP3):c.2151-109C>A rs199475734 0.00004
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln) rs771243505 0.00004
NM_001267550.2(TTN):c.38255C>T (p.Pro12752Leu) rs794729418 0.00004
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) rs794729427 0.00004
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His) rs367996763 0.00004
NM_001267550.2(TTN):c.48014C>G (p.Thr16005Arg) rs557711303 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.55915G>A (p.Val18639Met) rs727503596 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211 0.00004
NM_001282144.2(NLRX1):c.*307C>A rs199476054 0.00004
NM_001282144.2(NLRX1):c.914G>A (p.Arg305His) rs199476043 0.00004
NM_001370466.1(NOD2):c.-8-2388C>T rs199475909 0.00004
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His) rs199475913 0.00004
NM_001384950.1(NLRC5):c.*285C>T rs199476025 0.00004
NM_001384950.1(NLRC5):c.2712-34C>T rs199475984 0.00004
NM_001384950.1(NLRC5):c.4154+23C>T rs199476005 0.00004
NM_001394894.2(NLRP11):c.-63+110T>C rs199475859 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_002037.5(FYN):c.573T>C (p.Asp191=) rs367543110 0.00004
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754 0.00004
NM_002087.4(GRN):c.1695C>T (p.Cys565=) rs63751248 0.00004
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) rs63750455 0.00004
NM_002273.4(KRT8):c.216G>A (p.Leu72=) rs58262021 0.00004
NM_002710.4(PPP1CC):c.*891G>A rs367543175 0.00004
NM_002739.5(PRKCG):c.1608C>T (p.Val536=) rs367543216 0.00004
NM_003721.4(RFXANK):c.639C>T (p.Gly213=) rs745918077 0.00004
NM_004360.5(CDH1):c.2348C>T (p.Thr783Ile) rs876658467 0.00004
NM_004996.4(ABCC1):c.596C>T (p.Ser199Leu) rs483352860 0.00004
NM_005094.4(SLC27A4):c.*23C>T rs587777865 0.00004
NM_005534.4(IFNGR2):c.207-109A>G rs121913198 0.00004
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His) rs318240753 0.00004
NM_006092.4(NOD1):c.2285+90G>A rs199476267 0.00004
NM_006204.4(PDE6C):c.-21C>T rs374900090 0.00004
NM_006294.4(UQCRB):c.-39T>C rs373747569 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007250.5(KLF8):c.646+3A>G rs758595312 0.00004
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala) rs145466894 0.00004
NM_013964.5(NRG1):c.679A>G (p.Met227Val) rs367543161 0.00004
NM_013964.5(NRG1):c.819G>T (p.Lys273Asn) rs367543162 0.00004
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser) rs63750944 0.00004
NM_016077.5(PTRH2):c.101G>A (p.Arg34Gln) rs763600816 0.00004
NM_017852.5(NLRP2):c.325+129G>A rs199475711 0.00004
NM_018117.12(WDR11):c.1183C>T (p.Arg395Trp) rs201051480 0.00004
NM_018117.12(WDR11):c.2070T>A (p.His690Gln) rs318240761 0.00004
NM_020485.8(RHCE):c.178C>A (p.Leu60Ile) rs181860403 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_030662.4(MAP2K2):c.-47A>G rs1057520422 0.00004
NM_032578.4(MYPN):c.1229T>C (p.Val410Ala) rs199476406 0.00004
NM_033109.5(PNPT1):c.745G>A (p.Val249Met) rs774197508 0.00004
NM_058179.4(PSAT1):c.1031C>G (p.Ser344Cys) rs370557155 0.00004
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met) rs149101687 0.00004
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val) rs376602543 0.00004
NM_058179.4(PSAT1):c.845T>C (p.Ile282Thr) rs774644137 0.00004
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_134444.5(NLRP4):c.-175G>A rs199475742 0.00004
NM_139076.3(ABRAXAS1):c.1139A>G (p.Asp380Gly) rs587780264 0.00004
NM_144687.3(NLRP12):c.*544C>A rs199475873 0.00004
NM_153447.4(NLRP5):c.62+1G>A rs199475763 0.00004
NM_170707.4(LMNA):c.1196G>A (p.Arg399His) rs267607563 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.357-20C>T rs193922724 0.00004
NM_176810.2(NLRP13):c.2619-85C>T rs199476256 0.00004
NM_178844.4(NLRC3):c.1928+186T>C rs199476278 0.00004
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869 0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) rs179363890 0.00003
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser) rs672601282 0.00003
NM_000110.4(DPYD):c.2058+42A>G rs368002831 0.00003
NM_000110.4(DPYD):c.2300-109T>C rs672601279 0.00003
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00003
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser) rs199472783 0.00003
NM_000224.3(KRT18):c.1232G>A (p.Arg411His) rs148580152 0.00003
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met) rs140743924 0.00003
NM_000246.4(CIITA):c.2658-149G>T rs199476074 0.00003
NM_000246.4(CIITA):c.2816+188T>G rs199476076 0.00003
NM_000251.3(MSH2):c.874A>T (p.Thr292Ser) rs104895022 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000277.3(PAH):c.1066T>C (p.Tyr356His) rs62507320 0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) rs61752887 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His) rs199473125 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_000348.4(SRD5A2):c.548-2A>C rs61750397 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 0.00003
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426 0.00003
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys) rs61749441 0.00003
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121 0.00003
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.5461-52del rs281865392 0.00003
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met) rs61753032 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000350.3(ABCA4):c.5868C>T (p.Asp1956=) rs62642567 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000350.3(ABCA4):c.933C>T (p.Thr311=) rs61753056 0.00003
NM_000350.3(ABCA4):c.997C>T (p.Arg333Trp) rs61748546 0.00003
NM_000372.5(TYR):c.289G>A (p.Gly97Arg) rs61753252 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val) rs587782662 0.00003
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys) rs58762773 0.00003
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.2398G>A (p.Val800Ile) rs200243555 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000540.3(RYR1):c.12335C>T (p.Ser4112Leu) rs193922847 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000552.5(VWF):c.2279G>A (p.Arg760His) rs61748467 0.00003
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 0.00003
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln) rs62643634 0.00003
NM_000552.5(VWF):c.8164C>G (p.Pro2722Ala) rs62641244 0.00003
NM_000552.5(VWF):c.971G>A (p.Arg324Gln) rs61754001 0.00003
NM_000834.5(GRIN2B):c.2313G>A (p.Gly771=) rs150554184 0.00003
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser) rs62638202 0.00003
NM_000843.4(GRM6):c.664G>A (p.Glu222Lys) rs62638204 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001031679.3(MSRB3):c.80C>T (p.Ser27Leu) rs370812570 0.00003
NM_001036.6(RYR3):c.14128G>A (p.Asp4710Asn) rs431825174 0.00003
NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp) rs179363895 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001126049.2(KLLN):c.-938A>T rs786204921 0.00003
NM_001127255.2(NLRP7):c.-39-4C>G rs199476227 0.00003
NM_001127255.2(NLRP7):c.9G>A (p.Ser3=) rs199475821 0.00003
NM_001134407.3(GRIN2A):c.1780C>T (p.Pro594Ser) rs367543140 0.00003
NM_001134407.3(GRIN2A):c.264C>T (p.Asp88=) rs367543127 0.00003
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001199138.2(NLRC4):c.1570G>A (p.Ala524Thr) rs199475956 0.00003
NM_001256317.3(TMPRSS3):c.566A>T (p.Tyr189Phe) rs781338726 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.20638G>A (p.Ala6880Thr) rs753356990 0.00003
NM_001267550.2(TTN):c.2310G>T (p.Gln770His) rs541547610 0.00003
NM_001267550.2(TTN):c.26464G>A (p.Ala8822Thr) rs184883436 0.00003
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg) rs750947988 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001267550.2(TTN):c.74185G>A (p.Ala24729Thr) rs372007344 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001276700.2(NLRP6):c.2105+180A>C rs199475812 0.00003
NM_001276700.2(NLRP6):c.29+222A>G rs199475789 0.00003
NM_001282144.2(NLRX1):c.-47A>G rs199476032 0.00003
NM_001282144.2(NLRX1):c.794C>T (p.Pro265Leu) rs199476042 0.00003
NM_001370466.1(NOD2):c.*8G>A rs199475923 0.00003
NM_001377265.1(MAPT):c.1332C>T (p.Ser444=) rs63750862 0.00003
NM_001377265.1(MAPT):c.2091+25C>T rs63750117 0.00003
NM_001377265.1(MAPT):c.220+2475G>A rs63751135 0.00003
NM_001384950.1(NLRC5):c.3506+168G>A rs199475997 0.00003
NM_001384950.1(NLRC5):c.3507-51C>T rs199475998 0.00003
NM_001384950.1(NLRC5):c.4322+98A>G rs199476006 0.00003
NM_001385.3(DPYS):c.1412A>G (p.Tyr471Cys) rs373070454 0.00003
NM_001394894.2(NLRP11):c.2454C>T (p.Tyr818=) rs199475861 0.00003
NM_001394894.2(NLRP11):c.2744C>T (p.Thr915Ile) rs199475862 0.00003
NM_001429.4(EP300):c.2241G>A (p.Pro747=) rs759604286 0.00003
NM_001822.7(CHN1):c.1301C>T (p.Ala434Val) rs778517881 0.00003
NM_001903.5(CTNNA1):c.891C>T (p.Ser297=) rs753897960 0.00003
NM_001983.4(ERCC1):c.426-11G>A rs104894990 0.00003
NM_002087.4(GRN):c.1176A>C (p.Pro392=) rs63750448 0.00003
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) rs63750130 0.00003
NM_002087.4(GRN):c.1485C>T (p.Cys495=) rs63750576 0.00003
NM_002087.4(GRN):c.861G>C (p.Glu287Asp) rs63750565 0.00003
NM_002273.4(KRT8):c.158G>T (p.Gly53Val) rs61710484 0.00003
NM_002485.5(NBN):c.702+126A>T rs104895035 0.00003
NM_002708.4(PPP1CA):c.486G>A (p.Ala162=) rs367543169 0.00003
NM_002709.3(PPP1CB):c.114T>C (p.Cys38=) rs367543174 0.00003
NM_002739.5(PRKCG):c.1899C>T (p.Pro633=) rs367543219 0.00003
NM_002739.5(PRKCG):c.861T>C (p.Asn287=) rs367543212 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_003380.5(VIM):c.451G>A (p.Glu151Lys) rs121917775 0.00003
NM_004183.4(BEST1):c.222G>A (p.Gln74=) rs1805141 0.00003
NM_004183.4(BEST1):c.33T>C (p.Asn11=) rs281865531 0.00003
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln) rs1805142 0.00003
NM_004183.4(BEST1):c.647C>T (p.Thr216Ile) rs281865275 0.00003
NM_004183.4(BEST1):c.933C>T (p.Val311=) rs281865278 0.00003
NM_004996.4(ABCC1):c.1218+9C>T rs483352877 0.00003
NM_005094.4(SLC27A4):c.519C>T (p.Arg173=) rs587776378 0.00003
NM_005094.4(SLC27A4):c.823C>T (p.Arg275Cys) rs587776380 0.00003
NM_005534.4(IFNGR2):c.*352C>T rs121913222 0.00003
NM_005534.4(IFNGR2):c.1008G>A (p.Thr336=) rs121913221 0.00003
NM_005534.4(IFNGR2):c.413-197T>C rs121913202 0.00003
NM_005534.4(IFNGR2):c.510G>A (p.Thr170=) rs121913209 0.00003
NM_005857.5(ZMPSTE24):c.54dup (p.Ile19fs) rs281875361 0.00003
NM_005857.5(ZMPSTE24):c.794A>G (p.Asn265Ser) rs281875371 0.00003
NM_006068.5(TLR6):c.628G>A (p.Ala210Thr) rs137853179 0.00003
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) rs318240752 0.00003
NM_006092.4(NOD1):c.1423C>T (p.Leu475Phe) rs199475901 0.00003
NM_006092.4(NOD1):c.2285+118C>T rs199476269 0.00003
NM_006092.4(NOD1):c.2285+31T>C rs199476266 0.00003
NM_006092.4(NOD1):c.285T>C (p.Asp95=) rs199475898 0.00003
NM_006121.4(KRT1):c.800G>A (p.Arg267Gln) rs60359468 0.00003
NM_006231.4(POLE):c.1676G>A (p.Arg559Gln) rs766276875 0.00003
NM_006262.4(PRPH):c.398G>C (p.Arg133Pro) rs267607528 0.00003
NM_006906.2(PTPN5):c.111G>A (p.Pro37=) rs367543235 0.00003
NM_006906.2(PTPN5):c.808C>T (p.Arg270Cys) rs367543228 0.00003
NM_013964.5(NRG1):c.1538C>T (p.Pro513Leu) rs367543168 0.00003
NM_014476.6(PDLIM3):c.177_178dup (p.Met60fs) rs199476399 0.00003
NM_014974.3(DIP2C):c.692G>A (p.Arg231Gln) rs756894472 0.00003
NM_017852.5(NLRP2):c.1020C>A (p.Ala340=) rs199475713 0.00003
NM_017852.5(NLRP2):c.280+220C>T rs199475708 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_018662.3(DISC1):c.1718C>T (p.Thr573Ile) rs367543092 0.00003
NM_018662.3(DISC1):c.2543G>A (p.Gly848Asp) rs367543099 0.00003
NM_020318.3(PAPPA2):c.1732C>T (p.Arg578Ter) rs375941290 0.00003
NM_020746.5(MAVS):c.1189G>A (p.Ala397Thr) rs778085486 0.00003
NM_020925.4(CACHD1):c.3244+3A>G rs750499224 0.00003
NM_021076.4(NEFH):c.1629A>G (p.Glu543=) rs58971806 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_024605.4(ARHGAP10):c.2228A>G (p.His743Arg) rs483352829 0.00003
NM_024876.4(COQ8B):c.98G>A (p.Arg33His) rs145961802 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032122.5(DTNBP1):c.950C>G (p.Pro317Arg) rs367543103 0.00003
NM_032192.4(PPP1R1B):c.393G>A (p.Glu131=) rs367543180 0.00003
NM_032192.4(PPP1R1B):c.86G>A (p.Arg29Gln) rs367543179 0.00003
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr) rs199476411 0.00003
NM_032595.5(PPP1R9B):c.1916C>T (p.Pro639Leu) rs367543185 0.00003
NM_033004.4(NLRP1):c.271+181G>A rs199476206 0.00003
NM_033004.4(NLRP1):c.448+109C>G rs199476208 0.00003
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys) rs199476325 0.00003
NM_033337.3(CAV3):c.114+99T>C rs4686299 0.00003
NM_058179.4(PSAT1):c.1025G>A (p.Arg342Gln) rs748711682 0.00003
NM_058179.4(PSAT1):c.200C>T (p.Pro67Leu) rs373205386 0.00003
NM_058179.4(PSAT1):c.338A>T (p.Glu113Val) rs373888510 0.00003
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204 0.00003
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met) rs369944396 0.00003
NM_058179.4(PSAT1):c.478G>A (p.Val160Met) rs765810685 0.00003
NM_058179.4(PSAT1):c.514G>T (p.Val172Leu) rs778210369 0.00003
NM_058179.4(PSAT1):c.748G>A (p.Val250Ile) rs368071286 0.00003
NM_058179.4(PSAT1):c.926A>G (p.Asn309Ser) rs752613705 0.00003
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773 0.00003
NM_133497.4(KCNV2):c.148A>C (p.Asn50His) rs757537568 0.00003
NM_139027.6(ADAMTS13):c.3487C>T (p.Arg1163Trp) rs281875339 0.00003
NM_139027.6(ADAMTS13):c.911A>G (p.Tyr304Cys) rs281875285 0.00003
NM_144687.4(NLRP12):c.1343G>C (p.Gly448Ala) rs104895566 0.00003
NM_152305.3(POGLUT1):c.211G>A (p.Gly71Ser) rs1001425015 0.00003
NM_153447.4(NLRP5):c.1274G>A (p.Arg425His) rs199475774 0.00003
NM_153447.4(NLRP5):c.1384C>T (p.Arg462Cys) rs199475775 0.00003
NM_153447.4(NLRP5):c.3299+19T>C rs199475786 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1158-38G>A rs267607686 0.00003
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) rs80356814 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_176810.2(NLRP13):c.2112-290T>G rs199476253 0.00003
NM_176810.2(NLRP13):c.2619-24A>G rs199476257 0.00003
NM_176811.2(NLRP8):c.-206G>A rs199475832 0.00003
NM_176822.4(NLRP14):c.2066C>G (p.Ala689Gly) rs199475884 0.00003
NM_178844.4(NLRC3):c.1408G>A (p.Ala470Thr) rs199475936 0.00003
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) rs199473712 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) rs281875276 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000180.4(GUCY2D):c.289G>C (p.Glu97Gln) rs61749667 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000218.3(KCNQ1):c.1321C>T (p.Pro441Ser) rs199473475 0.00002
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000224.3(KRT18):c.782G>A (p.Arg261Gln) rs57354642 0.00002
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu) rs199473017 0.00002
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp) rs199473543 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000251.3(MSH2):c.2379G>T (p.Gln793His) rs767520406 0.00002
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655 0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000335.5(SCN5A):c.3242T>C (p.Val1081Ala) rs199473189 0.00002
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000348.4(SRD5A2):c.560C>T (p.Thr187Met) rs61748125 0.00002
NM_000348.4(SRD5A2):c.585C>T (p.Leu195=) rs61750399 0.00002
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys) rs61748547 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000350.3(ABCA4):c.3050+5G>A rs61751262 0.00002
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=) rs61750118 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_000350.3(ABCA4):c.3523-12C>T rs61754037 0.00002
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537 0.00002
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000400.4(ERCC2):c.1758+1G>A rs760834687 0.00002
NM_000433.4(NCF2):c.1105G>A (p.Gly369Arg) rs137854513 0.00002
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666 0.00002
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380 0.00002
NM_000526.5(KRT14):c.400C>T (p.Arg134Cys) rs58706476 0.00002
NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter) rs60725382 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000527.5(LDLR):c.988A>C (p.Asn330His) rs730882095 0.00002
NM_000540.3(RYR1):c.10348-42T>G rs2304152 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr) rs193922848 0.00002
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6669C>T (p.Ile2223=) rs193922796 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000552.5(VWF):c.3923G>A (p.Arg1308His) rs61749388 0.00002
NM_000552.5(VWF):c.4238C>T (p.Pro1413Leu) rs61750079 0.00002
NM_000552.5(VWF):c.4944del (p.Ile1649fs) rs61750591 0.00002
NM_000552.5(VWF):c.6932G>A (p.Arg2311His) rs267607357 0.00002
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000619.3(IFNG):c.367-227G>C rs121913169 0.00002
NM_000834.5(GRIN2B):c.1833T>C (p.Gly611=) rs367543148 0.00002
NM_000843.4(GRM6):c.1748C>T (p.Ser583Phe) rs62638211 0.00002
NM_000862.3(HSD3B1):c.712A>T (p.Arg238Trp) rs587776503 0.00002
NM_000942.5(PPIB):c.313G>A (p.Gly105Arg) rs137853866 0.00002
NM_000942.5(PPIB):c.556_559del (p.Lys186fs) rs137853869 0.00002
NM_001036.6(RYR3):c.10961C>T (p.Ala3654Val) rs1462103365 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042603.3(KDM5A):c.4522C>T (p.Arg1508Trp) rs367537993 0.00002
NM_001065.4(TNFRSF1A):c.40-1057C>G rs199422113 0.00002
NM_001079.4(ZAP70):c.342C>T (p.Val114=) rs1008750552 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001127255.2(NLRP7):c.1171A>G (p.Thr391Ala) rs199475827 0.00002
NM_001134407.3(GRIN2A):c.1161C>T (p.His387=) rs367543146 0.00002
NM_001160148.2(DDHD1):c.1277A>G (p.Lys426Arg) rs764461965 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001267550.2(TTN):c.3899A>G (p.Tyr1300Cys) rs188090472 0.00002
NM_001267550.2(TTN):c.39703C>G (p.Pro13235Ala) rs747619468 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) rs769972835 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001282144.2(NLRX1):c.1484C>T (p.Pro495Leu) rs199476046 0.00002
NM_001290187.2(KRBA1):c.742T>C (p.Cys248Arg) rs749454874 0.00002
NM_001318789.2(TLR2):c.265A>G (p.Asn89Asp) rs137853176 0.00002
NM_001370466.1(NOD2):c.-8-2021T>C rs199475911 0.00002
NM_001370466.1(NOD2):c.2337C>G (p.Gly779=) rs199475916 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys) rs63750191 0.00002
NM_001384950.1(NLRC5):c.5474G>A (p.Ser1825Asn) rs199476022 0.00002
NM_001444.3(FABP5):c.331T>C (p.Leu111=) rs431905490 0.00002
NM_001470.4(GABBR1):c.1477G>C (p.Val493Leu) rs980473553 0.00002
NM_001482.3(GATM):c.655G>A (p.Ala219Thr) rs369580400 0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His) rs371447931 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_002055.5(GFAP):c.759C>T (p.Ala253=) rs190972724 0.00002
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537 0.00002
NM_002087.4(GRN):c.421G>A (p.Val141Ile) rs63749853 0.00002
NM_002273.4(KRT8):c.1360C>T (p.Arg454Cys) rs267607479 0.00002
NM_002273.4(KRT8):c.164G>C (p.Gly55Ala) rs57282588 0.00002
NM_002739.5(PRKCG):c.534C>T (p.Gly178=) rs367543207 0.00002
NM_002739.5(PRKCG):c.613C>T (p.Arg205Trp) rs367543208 0.00002
NM_003263.4(TLR1):c.1661A>G (p.Tyr554Cys) rs137853173 0.00002
NM_003289.4(TPM2):c.773-3C>A rs199476157 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004183.4(BEST1):c.313C>T (p.Arg105Cys) rs281865273 0.00002
NM_004958.4(MTOR):c.5126G>A (p.Arg1709His) rs587777895 0.00002
NM_005094.4(SLC27A4):c.716-16C>T rs587777746 0.00002
NM_005462.5(MAGEC1):c.984_1086del (p.Ser328fs) rs1556442387 0.00002
NM_005689.4(ABCB6):c.1766G>A (p.Arg589His) rs483352876 0.00002
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter) rs766315644 0.00002
NM_005857.5(ZMPSTE24):c.1020G>A (p.Trp340Ter) rs281875372 0.00002
NM_006092.4(NOD1):c.2202-27C>T rs199476265 0.00002
NM_006158.5(NEFL):c.279G>A (p.Gln93=) rs60737254 0.00002
NM_006158.5(NEFL):c.45G>A (p.Lys15=) rs62636518 0.00002
NM_006231.4(POLE):c.5468G>A (p.Arg1823His) rs767747669 0.00002
NM_006262.4(PRPH):c.870+12G>A rs267607531 0.00002
NM_006906.2(PTPN5):c.1085A>G (p.Tyr362Cys) rs367543226 0.00002
NM_006906.2(PTPN5):c.1331G>A (p.Ser444Asn) rs367543223 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_007327.4(GRIN1):c.1866C>A (p.Gly622=) rs367543114 0.00002
NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp) rs62637008 0.00002
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met) rs1343189326 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_018662.3(DISC1):c.2157G>A (p.Glu719=) rs367543095 0.00002
NM_019098.5(CNGB3):c.384C>T (p.Ala128=) rs137853910 0.00002
NM_020232.5(PSMG2):c.180A>G (p.Pro60=) rs1056051588 0.00002
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn) rs1026198961 0.00002
NM_030787.4(CFHR5):c.829T>A (p.Tyr277Asn) rs318240756 0.00002
NM_031433.4(MFRP):c.1124+11C>G rs199473709 0.00002
NM_032578.4(MYPN):c.1419T>C (p.Thr473=) rs199476407 0.00002
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg) rs199476401 0.00002
NM_032595.5(PPP1R9B):c.506G>A (p.Arg169Gln) rs367543201 0.00002
NM_058179.4(PSAT1):c.1081A>C (p.Met361Leu) rs764651835 0.00002
NM_058179.4(PSAT1):c.209A>G (p.Tyr70Cys) rs756187253 0.00002
NM_058179.4(PSAT1):c.260C>T (p.Pro87Leu) rs772427307 0.00002
NM_058179.4(PSAT1):c.311C>T (p.Thr104Ile) rs370535310 0.00002
NM_058179.4(PSAT1):c.368T>C (p.Ile123Thr) rs777080315 0.00002
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys) rs371706852 0.00002
NM_058179.4(PSAT1):c.616G>A (p.Gly206Arg) rs150920467 0.00002
NM_058179.4(PSAT1):c.637C>T (p.Arg213Cys) rs774223780 0.00002
NM_058179.4(PSAT1):c.746A>G (p.Tyr249Cys) rs763450967 0.00002
NM_058179.4(PSAT1):c.94T>C (p.Tyr32His) rs373736401 0.00002
NM_134424.4(RAD52):c.*317G>A rs104895065 0.00002
NM_134444.5(NLRP4):c.1857-68G>A rs199475748 0.00002
NM_139027.6(ADAMTS13):c.1520G>A (p.Arg507Gln) rs281875296 0.00002
NM_145199.3(LIPT1):c.713A>G (p.Tyr238Cys) rs187886723 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_152891.3(PRSS33):c.531G>A (p.Trp177Ter) rs911248455 0.00002
NM_153006.3(NAGS):c.505A>T (p.Met169Leu) rs569174201 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_172107.4(KCNQ2):c.691-13G>A rs547887704 0.00002
NM_173728.4(ARHGEF15):c.1673A>C (p.Gln558Pro) rs924531335 0.00002
NM_175875.5(SIX5):c.1464C>G (p.Pro488=) rs753759460 0.00002
NM_176811.2(NLRP8):c.2214-57A>C rs199475841 0.00002
NM_176822.4(NLRP14):c.3049A>T (p.Ile1017Leu) rs199475889 0.00002
NM_176824.3(BBS7):c.-19G>C rs757523715 0.00002
NM_178844.4(NLRC3):c.2772-51A>G rs190122309 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_000018.4(ACADVL):c.343-1G>A rs1555527877 0.00001
NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup) rs63750762 0.00001
NM_000021.4(PSEN1):c.1061C>T (p.Thr354Ile) rs63751164 0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 0.00001
NM_000021.4(PSEN1):c.367G>A (p.Glu123Lys) rs63750378 0.00001
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn) rs786202728 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg) rs397507280 0.00001
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp) rs876660403 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000128.4(F11):c.100G>C (p.Asp34His) rs281875267 0.00001
NM_000128.4(F11):c.1021G>A (p.Glu341Lys) rs281875270 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.137G>T (p.Cys46Phe) rs281875271 0.00001
NM_000128.4(F11):c.1517A>G (p.Asp506Gly) rs281875258 0.00001
NM_000128.4(F11):c.1578C>G (p.Asp526Glu) rs281875263 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.188C>T (p.Ala63Val) rs281875244 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.419G>A (p.Cys140Tyr) rs281875256 0.00001
NM_000128.4(F11):c.959T>C (p.Leu320Pro) rs281875268 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.2837C>T (p.Ala946Val) rs61750180 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.3106C>T (p.Gln1036Ter) rs61750192 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395 0.00001
NM_000224.3(KRT18):c.307A>G (p.Thr103Ala) rs61136606 0.00001
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262 0.00001
NM_000238.4(KCNH2):c.1099A>T (p.Thr367Ser) rs199472890 0.00001
NM_000238.4(KCNH2):c.2744C>T (p.Ala915Val) rs199473437 0.00001
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg) rs199473015 0.00001
NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser) rs199473541 0.00001
NM_000238.4(KCNH2):c.3355G>C (p.Glu1119Gln) rs199473033 0.00001
NM_000238.4(KCNH2):c.769A>C (p.Asn257His) rs199472875 0.00001
NM_000246.3(CIITA):c.-168G>A rs199476059 0.00001
NM_000246.4(CIITA):c.2356C>A (p.Gln786Lys) rs199476072 0.00001
NM_000246.4(CIITA):c.481+167G>A rs199476063 0.00001
NM_000246.4(CIITA):c.52+9G>A rs199476060 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala) rs63750948 0.00001
NM_000251.3(MSH2):c.1387-265A>G rs104895024 0.00001
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr) rs864622093 0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile) rs587781996 0.00001
NM_000251.3(MSH2):c.367-108A>C rs104895021 0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00001
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser) rs928227757 0.00001
NM_000258.3(MYL3):c.*27G>A rs199474710 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000273.3(GPR143):c.730A>G (p.Ile244Val) rs62635040 0.00001
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) rs62516150 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648 0.00001
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) rs62516103 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) rs199475658 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val) rs118203925 0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677 0.00001
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.183C>G (p.Asn61Lys) rs199475634 0.00001
NM_000277.3(PAH):c.193A>G (p.Ile65Val) rs199475643 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.275C>T (p.Thr92Ile) rs62514903 0.00001
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+4A>G rs62508586 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000277.3(PAH):c.493G>A (p.Ala165Thr) rs199475626 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671 0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617 0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.569T>C (p.Val190Ala) rs62514919 0.00001
NM_000277.3(PAH):c.59A>T (p.Gln20Leu) rs199475662 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589 0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610 0.00001
NM_000277.3(PAH):c.737del (p.Ala246fs) rs199475666 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.848T>A (p.Ile283Asn) rs62508693 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe) rs62642095 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.943G>T (p.Asp315Tyr) rs62642917 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000277.3(PAH):c.997C>T (p.Leu333Phe) rs62516060 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.508G>A (p.Gly170Ser) rs61755791 0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) rs61755766 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000330.4(RS1):c.184+1G>C rs281865343 0.00001
NM_000330.4(RS1):c.194del (p.Tyr65fs) rs62645893 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.416del (p.Gln139fs) rs61752155 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_000330.4(RS1):c.655T>G (p.Cys219Gly) rs281865369 0.00001
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala) rs199473571 0.00001
NM_000335.5(SCN5A):c.1676C>T (p.Thr559Ile) rs199473575 0.00001
NM_000335.5(SCN5A):c.2114C>T (p.Ser705Phe) rs199473148 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825 0.00001
NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp) rs41311135 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.872A>G (p.Asn291Ser) rs199473563 0.00001
NM_000348.4(SRD5A2):c.*1843A>G rs61750402 0.00001
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=) rs61750385 0.00001
NM_000348.4(SRD5A2):c.209G>A (p.Arg70Gln) rs61750387 0.00001
NM_000348.4(SRD5A2):c.281+13C>G rs61750391 0.00001
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.1569T>G (p.Asp523Glu) rs62646868 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1917C>T (p.Tyr639=) rs61749415 0.00001
NM_000350.3(ABCA4):c.1938-1G>A rs61751263 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) rs61748526 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406 0.00001
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu) rs62642570 0.00001
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448 0.00001
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro) rs281865400 0.00001
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530 0.00001
NM_000350.3(ABCA4):c.2992C>T (p.Leu998=) rs62642566 0.00001
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061 0.00001
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062 0.00001
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp) rs61752412 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.3335C>A (p.Thr1112Asn) rs61750122 0.00001
NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter) rs61752426 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter) rs61752434 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) rs61750149 0.00001
NM_000350.3(ABCA4):c.4539+40C>T rs61754050 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4667+2T>C rs61752436 0.00001
NM_000350.3(ABCA4):c.4732G>A (p.Gly1578Arg) rs1800551 0.00001
NM_000350.3(ABCA4):c.4746C>T (p.Asp1582=) rs61754055 0.00001
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro) rs61750153 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.4999C>A (p.Gln1667Lys) rs61753018 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro) rs61750568 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter) rs61750573 0.00001
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr) rs61750575 0.00001
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu) rs62642579 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg) rs61750651 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.6448T>C (p.Cys2150Arg) rs61750656 0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro) rs61750659 0.00001
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser) rs62645950 0.00001
NM_000350.3(ABCA4):c.873G>A (p.Pro291=) rs61753054 0.00001
NM_000350.3(ABCA4):c.928G>C (p.Glu310Gln) rs61753055 0.00001
NM_000367.5(TPMT):c.648T>A (p.Cys216Ter) rs398122996 0.00001
NM_000372.5(TYR):c.1075C>T (p.Gln359Ter) rs62645909 0.00001
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr) rs61754386 0.00001
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387 0.00001
NM_000372.5(TYR):c.1132C>T (p.Gln378Ter) rs61754390 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.1315T>G (p.Phe439Val) rs281865327 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000372.5(TYR):c.2T>C (p.Met1Thr) rs281865324 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.649del (p.Arg217fs) rs61754364 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.766C>T (p.His256Tyr) rs61754370 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000393.5(COL5A2):c.961-10T>G rs770126461 0.00001
NM_000416.3(IFNGR1):c.547-104A>G rs121913179 0.00001
NM_000416.3(IFNGR1):c.85+18A>C rs121913173 0.00001
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) rs58730926 0.00001
NM_000422.3(KRT17):c.325A>G (p.Asn109Asp) rs267607412 0.00001
NM_000424.4(KRT5):c.1252G>A (p.Glu418Lys) rs121912476 0.00001
NM_000424.4(KRT5):c.499G>A (p.Glu167Lys) rs57378129 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000424.4(KRT5):c.991C>A (p.Arg331Ser) rs61297109 0.00001
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000433.4(NCF2):c.235A>G (p.Met79Val) rs137854512 0.00001
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile) rs63750812 0.00001
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu) rs63750880 0.00001
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys) rs199474688 0.00001
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) rs199474680 0.00001
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly) rs1064795138 0.00001
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363 0.00001
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr) rs199476374 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.685C>T (p.His229Tyr) rs199476354 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr) rs199476347 0.00001
NM_000487.6(ARSA):c.912G>C (p.Lys304Asn) rs199476343 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000488.4(SERPINC1):c.881G>A (p.Arg294His) rs587776397 0.00001
NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr) rs61536893 0.00001
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391 0.00001
NM_000526.5(KRT14):c.526-2A>C rs200779504 0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560 0.00001
NM_000527.5(LDLR):c.1105G>A (p.Val369Met) rs730882097 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1356C>T (p.Cys452=) rs137853961 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.2126G>A (p.Arg709Lys) rs730882113 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.314C>T (p.Pro105Leu) rs730882079 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly) rs730882081 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.790A>C (p.Met264Leu) rs730882088 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.892A>G (p.Met298Val) rs730882092 0.00001
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln) rs730882093 0.00001
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000540.2(RYR1):c.14647-1449A>G rs193922886 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.1014C>A (p.Ile338=) rs8101510 0.00001
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg) rs193922747 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.1100G>T (p.Arg367Leu) rs113332073 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735 0.00001
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14002C>T (p.Pro4668Ser) rs193922863 0.00001
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln) rs118192141 0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.2455C>T (p.Arg819Ter) rs193922774 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.4934G>A (p.Arg1645Gln) rs193922778 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.652G>A (p.Val218Ile) rs193922759 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) rs193922801 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7324-19C>T rs12981175 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile) rs193922824 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.376-1G>A rs868137297 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.685T>C (p.Cys229Arg) rs1064794312 0.00001
NM_000546.6(TP53):c.783-1G>A rs1555525367 0.00001
NM_000551.4(VHL):c.340+2T>C rs1407805768 0.00001
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1534-3C>A rs61754009 0.00001
NM_000552.5(VWF):c.1657dup (p.Trp553fs) rs267607307 0.00001
NM_000552.5(VWF):c.1946-4C>T rs61748461 0.00001
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs) rs61748465 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000552.5(VWF):c.260A>C (p.Tyr87Ser) rs62643621 0.00001
NM_000552.5(VWF):c.2770C>T (p.Arg924Trp) rs61748491 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.3905A>G (p.Asp1302Gly) rs61749382 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala) rs267607338 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4339G>C (p.Glu1447Gln) rs61750085 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_000552.5(VWF):c.4399C>T (p.Pro1467Ser) rs61750091 0.00001
NM_000552.5(VWF):c.4696C>T (p.Arg1566Ter) rs61750112 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser) rs61750608 0.00001
NM_000552.5(VWF):c.5545G>A (p.Val1849Met) rs61750611 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.6311C>T (p.Thr2104Ile) rs61750616 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.7437G>A (p.Ser2479=) rs267607363 0.00001
NM_000552.5(VWF):c.7489T>C (p.Ser2497Pro) rs61751292 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr) rs61751305 0.00001
NM_000552.5(VWF):c.8327C>T (p.Pro2776Leu) rs61751312 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000553.6(WRN):c.919A>T (p.Thr307Ser) rs1002222882 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000619.3(IFNG):c.367-282T>A rs121913168 0.00001
NM_000629.3(IFNAR1):c.358T>C (p.Phe120Leu) rs2083289688 0.00001
NM_000827.4(GRIA1):c.1988C>T (p.Thr663Met) rs752447548 0.00001
NM_000834.5(GRIN2B):c.14C>T (p.Ala5Val) rs367543147 0.00001
NM_000834.5(GRIN2B):c.3562G>A (p.Gly1188Ser) rs367543149 0.00001
NM_000942.5(PPIB):c.343+1G>A rs137853867 0.00001
NM_000942.5(PPIB):c.414_423del (p.Ser139fs) rs137853868 0.00001
NM_001006658.3(CR2):c.668A>G (p.Asn223Ser) rs374710389 0.00001
NM_001018005.2(TPM1):c.240+4470G>T rs199476308 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001033566.3(RHOT1):c.1862+29G>A rs995710160 0.00001
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe) rs62638628 0.00001
NM_001034853.2(RPGR):c.778+5G>A rs62640583 0.00001
NM_001036.6(RYR3):c.4529T>C (p.Val1510Ala) rs431825175 0.00001
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001059.3(TACR3):c.278G>A (p.Gly93Asp) rs121918124 0.00001
NM_001083926.2(ASRGL1):c.13G>A (p.Val5Ile) rs1186341508 0.00001
NM_001098.3(ACO2):c.183G>A (p.Arg61=) rs773989143 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) rs61750240 0.00001
NM_001127255.1(NLRP7):c.-123C>T rs199475820 0.00001
NM_001127255.2(NLRP7):c.1148C>T (p.Pro383Leu) rs199475826 0.00001
NM_001127255.2(NLRP7):c.1235T>C (p.Leu412Pro) rs199475828 0.00001
NM_001134407.3(GRIN2A):c.1340A>T (p.Asn447Ile) rs367543145 0.00001
NM_001134407.3(GRIN2A):c.1698C>T (p.Leu566=) rs367543142 0.00001
NM_001134407.3(GRIN2A):c.38C>T (p.Pro13Leu) rs367543131 0.00001
NM_001134407.3(GRIN2A):c.426T>G (p.Ser142=) rs367543125 0.00001
NM_001134407.3(GRIN2A):c.60T>C (p.Gly20=) rs367543130 0.00001
NM_001134407.3(GRIN2A):c.80C>T (p.Ala27Val) rs367543129 0.00001
NM_001134407.3(GRIN2A):c.810A>G (p.Lys270=) rs367543122 0.00001
NM_001148.6(ANK2):c.5470T>C (p.Ser1824Pro) rs199473344 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val) rs193302879 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro) rs193302902 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001199138.1(NLRC4):c.-1155A>G rs199475951 0.00001
NM_001199138.1(NLRC4):c.-1925A>T rs199475948 0.00001
NM_001199138.2(NLRC4):c.1811A>G (p.Asn604Ser) rs199475957 0.00001
NM_001199138.2(NLRC4):c.297C>T (p.Asp99=) rs199475952 0.00001
NM_001243133.2(NLRP3):c.278-28G>A rs199475728 0.00001
NM_001243133.2(NLRP3):c.291A>G (p.Ala97=) rs199475729 0.00001
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826 0.00001
NM_001267550.2(TTN):c.105407G>A (p.Arg35136Gln) rs554213990 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.12113C>A (p.Thr4038Asn) rs758968807 0.00001
NM_001267550.2(TTN):c.29183A>G (p.Asn9728Ser) rs374981132 0.00001
NM_001267550.2(TTN):c.30220G>A (p.Glu10074Lys) rs794729402 0.00001
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu) rs573756163 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581 0.00001
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met) rs780879621 0.00001
NM_001267550.2(TTN):c.67282G>T (p.Val22428Leu) rs794729483 0.00001
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln) rs771534555 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001276700.2(NLRP6):c.2659C>G (p.Leu887Val) rs199475818 0.00001
NM_001282144.2(NLRX1):c.966C>T (p.Phe322=) rs199476044 0.00001
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys) rs60687604 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.99+29T>G rs267608422 0.00001
NM_001330311.2(DVL1):c.1507+1_1508-1del rs1553173467 0.00001
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys) rs768503905 0.00001
NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys) rs281875217 0.00001
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) rs281875220 0.00001
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215 0.00001
NM_001366385.1(CARD14):c.571G>T (p.Val191Leu) rs281875218 0.00001
NM_001367534.1(CAMK2G):c.286G>A (p.Gly96Arg) rs772531683 0.00001
NM_001370466.1(NOD2):c.*192T>C rs199475925 0.00001
NM_001370466.1(NOD2):c.2181G>A (p.Leu727=) rs199475915 0.00001
NM_001370466.1(NOD2):c.2465+28G>A rs199475919 0.00001
NM_001371272.1(RAB11FIP5):c.3869G>A (p.Arg1290Gln) rs868507082 0.00001
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu) rs63750425 0.00001
NM_001377265.1(MAPT):c.2456C>T (p.Thr819Met) rs63750991 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_001382391.1(CSPP1):c.3470-2A>G rs1837724111 0.00001
NM_001384950.1(NLRC5):c.2075+113A>G rs199475976 0.00001
NM_001384950.1(NLRC5):c.2947C>G (p.His983Asp) rs199475989 0.00001
NM_001384950.1(NLRC5):c.3338+59G>A rs199475993 0.00001
NM_001384950.1(NLRC5):c.3905G>A (p.Arg1302Gln) rs199476000 0.00001
NM_001384950.1(NLRC5):c.4018G>A (p.Val1340Met) rs199476003 0.00001
NM_001384950.1(NLRC5):c.424+276C>T rs199475971 0.00001
NM_001384950.1(NLRC5):c.424+46C>G rs199475969 0.00001
NM_001384950.1(NLRC5):c.4365C>T (p.Val1455=) rs199476007 0.00001
NM_001384950.1(NLRC5):c.4835+61C>A rs199476012 0.00001
NM_001384950.1(NLRC5):c.5172G>A (p.Ala1724=) rs199476016 0.00001
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg) rs1298586276 0.00001
NM_001391958.1(NLRP10):c.289+41G>T rs199476232 0.00001
NM_001391958.1(NLRP10):c.993G>A (p.Glu331=) rs199475854 0.00001
NM_001393907.1(GPR61):c.423C>G (p.Tyr141Ter) rs1223495799 0.00001
NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup) rs1333871469 0.00001
NM_001482.3(GATM):c.1037C>T (p.Pro346Leu) rs142814307 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 0.00001
NM_001482.3(GATM):c.622G>A (p.Ala208Thr) rs374059924 0.00001
NM_001482.3(GATM):c.985C>G (p.Leu329Val) rs373802463 0.00001
NM_001641.4(APEX1):c.441C>T (p.Gly147=) rs104894987 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.46C>T (p.Arg16Cys) rs60798368 0.00001
NM_002037.5(FYN):c.1347G>A (p.Val449=) rs367543106 0.00001
NM_002037.5(FYN):c.333A>G (p.Ile111Met) rs367543111 0.00001
NM_002087.4(GRN):c.1145del (p.Thr382fs) rs63750805 0.00001
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) rs63750920 0.00001
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu) rs63750007 0.00001
NM_002087.4(GRN):c.1425C>T (p.Cys475=) rs63751104 0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006 0.00001
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr) rs63750163 0.00001
NM_002087.4(GRN):c.708C>T (p.Asn236=) rs63750744 0.00001
NM_002087.4(GRN):c.804G>A (p.Thr268=) rs63750229 0.00001
NM_002273.4(KRT8):c.1021C>T (p.Arg341Cys) rs62636489 0.00001
NM_002276.5(KRT19):c.49G>A (p.Gly17Ser) rs200777034 0.00001
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys) rs57419521 0.00001
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288 0.00001
NM_002471.4(MYH6):c.3860G>A (p.Gly1287Glu) rs780857713 0.00001
NM_002691.4(POLD1):c.2911G>A (p.Glu971Lys) rs897259743 0.00001
NM_002708.4(PPP1CA):c.408C>T (p.Phe136=) rs367543170 0.00001
NM_002710.4(PPP1CC):c.76A>G (p.Lys26Glu) rs367543176 0.00001
NM_002739.5(PRKCG):c.1746C>T (p.Ala582=) rs367543217 0.00001
NM_002739.5(PRKCG):c.1862G>A (p.Arg621Gln) rs367543218 0.00001
NM_002739.5(PRKCG):c.955C>A (p.Pro319Thr) rs367543214 0.00001
NM_003263.4(TLR1):c.224T>C (p.Ile75Thr) rs137853170 0.00001
NM_003282.4(TNNI2):c.15+21C>G rs2292476 0.00001
NM_003322.6(TULP1):c.1375A>C (p.Ile459Leu) rs281865533 0.00001
NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser) rs755162827 0.00001
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp) rs104893685 0.00001
NM_003809.3(TNFSF12):c.194A>C (p.Asp65Ala) rs747019973 0.00001
NM_003896.4(ST3GAL5):c.957T>G (p.Phe319Leu) rs747318909 0.00001
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288 0.00001
NM_004183.4(BEST1):c.1574A>C (p.Glu525Ala) rs200582915 0.00001
NM_004183.4(BEST1):c.165G>A (p.Thr55=) rs62637050 0.00001
NM_004183.4(BEST1):c.248-26C>T rs62639354 0.00001
NM_004183.4(BEST1):c.274C>A (p.Arg92Ser) rs281865224 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 0.00001
NM_004183.4(BEST1):c.399C>G (p.Asn133Lys) rs281865233 0.00001
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser) rs281865236 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_004183.4(BEST1):c.823G>A (p.Val275Ile) rs281865276 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn) rs281865277 0.00001
NM_004187.5(KDM5C):c.2623G>A (p.Gly875Ser) rs781897336 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004996.4(ABCC1):c.352-79G>A rs587783373 0.00001
NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter) rs587776384 0.00001
NM_005094.4(SLC27A4):c.1775-13C>T rs587776374 0.00001
NM_005094.4(SLC27A4):c.250G>A (p.Val84Ile) rs587776372 0.00001
NM_005094.4(SLC27A4):c.352C>T (p.Leu118=) rs587776376 0.00001
NM_005094.4(SLC27A4):c.523C>T (p.Arg175Trp) rs587776379 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005534.4(IFNGR2):c.413-25T>C rs121913207 0.00001
NM_005534.4(IFNGR2):c.528T>C (p.Tyr176=) rs121913210 0.00001
NM_005534.4(IFNGR2):c.721+89T>C rs121913213 0.00001
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285 0.00001
NM_005732.3(RAD50):c.-352G>A rs104895040 0.00001
NM_005857.5(ZMPSTE24):c.1204-1G>A rs61751009 0.00001
NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter) rs121908094 0.00001
NM_005857.5(ZMPSTE24):c.1385T>G (p.Leu462Arg) rs281875378 0.00001
NM_005857.5(ZMPSTE24):c.475-2A>G rs312262685 0.00001
NM_006068.5(TLR6):c.629C>G (p.Ala210Gly) rs137853180 0.00001
NM_006092.4(NOD1):c.1369C>T (p.Arg457Trp) rs199475900 0.00001
NM_006092.4(NOD1):c.2454-116G>C rs199476271 0.00001
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) rs318240762 0.00001
NM_006158.5(NEFL):c.123C>T (p.Ser41=) rs57762083 0.00001
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) rs151208148 0.00001
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys) rs57848467 0.00001
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) rs58975336 0.00001
NM_006231.4(POLE):c.-7C>T rs1064796567 0.00001
NM_006262.4(PRPH):c.1108G>A (p.Glu370Lys) rs59827092 0.00001
NM_006514.4(SCN10A):c.2527T>C (p.Phe843Leu) rs768541787 0.00001
NM_006906.2(PTPN5):c.1253C>T (p.Ala418Val) rs367543224 0.00001
NM_006906.2(PTPN5):c.1338T>A (p.Thr446=) rs367543222 0.00001
NM_006906.2(PTPN5):c.1584G>A (p.Thr528=) rs367543221 0.00001
NM_006906.2(PTPN5):c.627C>T (p.Asp209=) rs367543230 0.00001
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) rs281875319 0.00001
NM_007194.4(CHEK2):c.-34A>T rs121908696 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.684-4C>G rs121908695 0.00001
NM_007254.4(PNKP):c.152-8A>G rs751424212 0.00001
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu) rs398122647 0.00001
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr) rs730881474 0.00001
NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly) rs773841328 0.00001
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) rs1401137576 0.00001
NM_012418.4(FSCN2):c.1106-9C>T rs1284263379 0.00001
NM_013251.4(TAC3):c.269T>C (p.Met90Thr) rs121918123 0.00001
NM_013285.3(GNL2):c.1480G>A (p.Val494Ile) rs371807583 0.00001
NM_013964.5(NRG1):c.1005T>C (p.Ser335=) rs367543166 0.00001
NM_013964.5(NRG1):c.140C>T (p.Ser47Leu) rs367543160 0.00001
NM_013964.5(NRG1):c.30A>C (p.Lys10Asn) rs367543159 0.00001
NM_013964.5(NRG1):c.857G>A (p.Arg286Gln) rs367543164 0.00001
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) rs63751048 0.00001
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser) rs924785682 0.00001
NM_014476.6(PDLIM3):c.317A>C (p.Glu106Ala) rs199476400 0.00001
NM_014585.6(SLC40A1):c.1112G>A (p.Arg371Gln) rs387907378 0.00001
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser) rs387907377 0.00001
NM_014689.3(DOCK10):c.279C>T (p.Tyr93=) rs1701350158 0.00001
NM_014758.3(SNX19):c.842C>T (p.Ala281Val) rs431825173 0.00001
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) rs1166797338 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_015175.3(NBEAL2):c.4485-1G>T rs763842878 0.00001
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu) rs1011541536 0.00001
NM_016026.4(RDH11):c.454+2T>A rs1364619920 0.00001
NM_017588.3(WDR5):c.19A>C (p.Lys7Gln) rs367537994 0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_017852.5(NLRP2):c.2031-80G>T rs199475718 0.00001
NM_017852.5(NLRP2):c.2202-222A>G rs199475722 0.00001
NM_017852.5(NLRP2):c.2496C>T (p.Tyr832=) rs199475724 0.00001
NM_017852.5(NLRP2):c.326-68A>G rs199475712 0.00001
NM_018129.4(PNPO):c.-18C>T rs886053100 0.00001
NM_018129.4(PNPO):c.83G>A (p.Arg28His) rs866973135 0.00001
NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu) rs1447772102 0.00001
NM_018662.3(DISC1):c.1363C>T (p.Arg455Ter) rs367543089 0.00001
NM_018662.3(DISC1):c.2215G>A (p.Glu739Lys) rs367543096 0.00001
NM_018662.3(DISC1):c.2221A>G (p.Lys741Glu) rs367543097 0.00001
NM_018662.3(DISC1):c.841G>A (p.Ala281Thr) rs367543086 0.00001
NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=) rs281865294 0.00001
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159 0.00001
NM_022552.5(DNMT3A):c.1668-1G>A rs1674466585 0.00001
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824 0.00001
NM_024330.4(SLC27A3):c.1447+19G>A rs146145258 0.00001
NM_024330.4(SLC27A3):c.1875+15C>A rs146389904 0.00001
NM_024330.4(SLC27A3):c.667+24C>T rs140194614 0.00001
NM_024330.4(SLC27A3):c.668-24C>T rs143973304 0.00001
NM_024605.4(ARHGAP10):c.1116+21A>G rs483352831 0.00001
NM_024605.4(ARHGAP10):c.1468T>C (p.Ser490Pro) rs483352828 0.00001
NM_024721.5(ZFHX4):c.7316C>G (p.Pro2439Arg) rs1354750315 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr) rs318240755 0.00001
NM_031433.4(MFRP):c.1255+33_1255+34del rs199473711 0.00001
NM_031433.4(MFRP):c.290C>T (p.Pro97Leu) rs199473708 0.00001
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys) rs587780229 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=) rs367543105 0.00001
NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met) rs367543104 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His) rs71584501 0.00001
NM_032595.5(PPP1R9B):c.1074G>C (p.Ala358=) rs367543191 0.00001
NM_032595.5(PPP1R9B):c.1131G>A (p.Glu377=) rs367543187 0.00001
NM_032595.5(PPP1R9B):c.1582G>A (p.Val528Ile) rs367543186 0.00001
NM_032595.5(PPP1R9B):c.2199G>T (p.Leu733=) rs367543184 0.00001
NM_032595.5(PPP1R9B):c.2358G>A (p.Ser786=) rs367543182 0.00001
NM_032595.5(PPP1R9B):c.253C>T (p.Arg85Trp) rs367543205 0.00001
NM_033004.4(NLRP1):c.2870+58A>G rs199476212 0.00001
NM_033004.4(NLRP1):c.3521-91A>G rs199476214 0.00001
NM_033004.4(NLRP1):c.4103-161A>G rs199476219 0.00001
NM_033337.3(CAV3):c.169G>A (p.Val57Met) rs116840795 0.00001
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) rs121909282 0.00001
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro) rs28936685 0.00001
NM_033337.3(CAV3):c.377G>A (p.Arg126His) rs116840777 0.00001
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820 0.00001
NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys) rs57872071 0.00001
NM_058179.4(PSAT1):c.1004A>G (p.His335Arg) rs778387460 0.00001
NM_058179.4(PSAT1):c.1036T>C (p.Tyr346His) rs1219634342 0.00001
NM_058179.4(PSAT1):c.1037A>G (p.Tyr346Cys) rs771325939 0.00001
NM_058179.4(PSAT1):c.1039A>C (p.Asn347His) rs775393361 0.00001
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp) rs761364177 0.00001
NM_058179.4(PSAT1):c.1075G>A (p.Ala359Thr) rs1460752899 0.00001
NM_058179.4(PSAT1):c.1094T>G (p.Leu365Trp) rs758027795 0.00001
NM_058179.4(PSAT1):c.109A>G (p.Ile37Val) rs141408971 0.00001
NM_058179.4(PSAT1):c.1103A>G (p.His368Arg) rs781632079 0.00001
NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn) rs752037444 0.00001
NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln) rs759948216 0.00001
NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn) rs768121356 0.00001
NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala) rs1465646885 0.00001
NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly) rs754006053 0.00001
NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser) rs757471190 0.00001
NM_058179.4(PSAT1):c.203A>G (p.Asp68Gly) rs748059814 0.00001
NM_058179.4(PSAT1):c.239G>A (p.Cys80Tyr) rs1488591230 0.00001
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser) rs745532660 0.00001
NM_058179.4(PSAT1):c.272T>C (p.Ile91Thr) rs908759049 0.00001
NM_058179.4(PSAT1):c.284C>A (p.Ala95Glu) rs764639970 0.00001
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) rs118203967 0.00001
NM_058179.4(PSAT1):c.304G>A (p.Val102Met) rs1354203523 0.00001
NM_058179.4(PSAT1):c.307G>C (p.Val103Leu) rs377282696 0.00001
NM_058179.4(PSAT1):c.316G>T (p.Ala106Ser) rs767276592 0.00001
NM_058179.4(PSAT1):c.326C>T (p.Ala109Val) rs756099295 0.00001
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln) rs753331548 0.00001
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val) rs778303528 0.00001
NM_058179.4(PSAT1):c.373C>T (p.His125Tyr) rs997904439 0.00001
NM_058179.4(PSAT1):c.494T>C (p.Ile165Thr) rs751138256 0.00001
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) rs767197857 0.00001
NM_058179.4(PSAT1):c.509G>C (p.Gly170Ala) rs1267866030 0.00001
NM_058179.4(PSAT1):c.540C>G (p.Asn180Lys) rs1202698690 0.00001
NM_058179.4(PSAT1):c.605T>C (p.Val202Ala) rs768990312 0.00001
NM_058179.4(PSAT1):c.607G>C (p.Gly203Arg) rs1253727919 0.00001
NM_058179.4(PSAT1):c.649C>G (p.Leu217Val) rs771502157 0.00001
NM_058179.4(PSAT1):c.650T>C (p.Leu217Pro) rs775130332 0.00001
NM_058179.4(PSAT1):c.653G>A (p.Gly218Glu) rs763853118 0.00001
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu) rs1479566156 0.00001
NM_058179.4(PSAT1):c.706A>C (p.Asn236His) rs138085071 0.00001
NM_058179.4(PSAT1):c.797C>T (p.Ala266Val) rs779731736 0.00001
NM_058179.4(PSAT1):c.806A>T (p.Lys269Met) rs143194678 0.00001
NM_058179.4(PSAT1):c.808C>T (p.Leu270Phe) rs780837265 0.00001
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) rs1057515671 0.00001
NM_058179.4(PSAT1):c.826C>G (p.Gln276Glu) rs748962329 0.00001
NM_058179.4(PSAT1):c.840G>T (p.Glu280Asp) rs1182144804 0.00001
NM_058179.4(PSAT1):c.841A>T (p.Ile281Phe) rs1428540462 0.00001
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser) rs760073635 0.00001
NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys) rs553281141 0.00001
NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg) rs573647836 0.00001
NM_058179.4(PSAT1):c.877G>A (p.Val293Met) rs1271264402 0.00001
NM_058179.4(PSAT1):c.887A>C (p.Gln296Pro) rs1479206103 0.00001
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp) rs1198065787 0.00001
NM_058179.4(PSAT1):c.917G>A (p.Arg306His) rs373209481 0.00001
NM_058179.4(PSAT1):c.925A>G (p.Asn309Asp) rs1304927717 0.00001
NM_058179.4(PSAT1):c.933A>T (p.Lys311Asn) rs756187059 0.00001
NM_058179.4(PSAT1):c.937G>C (p.Asp313His) rs777406765 0.00001
NM_058179.4(PSAT1):c.956G>A (p.Arg319Lys) rs1388260896 0.00001
NM_058179.4(PSAT1):c.97A>G (p.Lys33Glu) rs1475269547 0.00001
NM_058179.4(PSAT1):c.988T>G (p.Leu330Val) rs1294676184 0.00001
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770 0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772 0.00001
NM_133261.3(GIPC3):c.192G>A (p.Lys64=) rs876657466 0.00001
NM_134444.5(NLRP4):c.-458G>A rs199475740 0.00001
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu) rs281875338 0.00001
NM_139027.6(ADAMTS13):c.1170G>C (p.Trp390Cys) rs281875306 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139027.6(ADAMTS13):c.1973A>G (p.Tyr658Cys) rs281875335 0.00001
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) rs281875340 0.00001
NM_139027.6(ADAMTS13):c.3838C>T (p.Arg1280Trp) rs281875308 0.00001
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287 0.00001
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn) rs483352823 0.00001
NM_144687.4(NLRP12):c.1425A>G (p.Leu475=) rs199475865 0.00001
NM_144687.4(NLRP12):c.2072+738G>T rs199475866 0.00001
NM_144687.4(NLRP12):c.290-76A>G rs199476241 0.00001
NM_145290.4(ADGRA3):c.559G>C (p.Glu187Gln) rs771978768 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074 0.00001
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) rs780931107 0.00001
NM_153447.4(NLRP5):c.-397C>T rs199475758 0.00001
NM_153447.4(NLRP5):c.2958-33C>A rs199475784 0.00001
NM_153447.4(NLRP5):c.3219G>A (p.Thr1073=) rs199475785 0.00001
NM_153490.3(KRT13):c.341G>A (p.Arg114His) rs267607388 0.00001
NM_170707.4(LMNA):c.*27G>A rs267607682 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1163G>A (p.Arg388His) rs267607576 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1462A>C (p.Thr488Pro) rs267607607 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His) rs13768 0.00001
NM_170707.4(LMNA):c.1892G>A (p.Gly631Asp) rs267607648 0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) rs267607560 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.640-10A>G rs80356807 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_172364.5(CACNA2D4):c.1276C>T (p.Arg426Ter) rs764495319 0.00001
NM_172370.5(DAOA):c.271C>T (p.Pro91Ser) rs367543080 0.00001
NM_173728.4(ARHGEF15):c.868G>A (p.Ala290Thr) rs199835687 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NM_176810.2(NLRP13):c.2111+89G>T rs199476252 0.00001
NM_176820.4(NLRP9):c.1056G>C (p.Glu352Asp) rs199475848 0.00001
NM_176820.4(NLRP9):c.1218T>C (p.Tyr406=) rs199475849 0.00001
NM_176820.4(NLRP9):c.2502-40C>G rs199476229 0.00001
NM_176822.4(NLRP14):c.*55G>C rs199475892 0.00001
NM_176822.4(NLRP14):c.2027G>C (p.Arg676Thr) rs199475883 0.00001
NM_176822.4(NLRP14):c.2291+112T>A rs199475885 0.00001
NM_177963.4(SYT12):c.791C>T (p.Pro264Leu) rs201856506 0.00001
NM_178844.3(NLRC3):c.-538G>A rs199475931 0.00001
NM_178844.4(NLRC3):c.2183+249C>T rs199476282 0.00001
NM_178844.4(NLRC3):c.2184-248T>G rs199476285 0.00001
NM_182972.3(IRF2BP2):c.522G>C (p.Gln174His) rs1346043758 0.00001
NM_198291.3(SRC):c.1387C>T (p.Arg463Trp) rs367543247 0.00001
NM_198291.3(SRC):c.61G>A (p.Ala21Thr) rs367543238 0.00001
NM_198291.3(SRC):c.642C>T (p.Gly214=) rs367543240 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His) rs62636281 0.00001
NM_213599.3(ANO5):c.-162A>G rs61879341 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1
GRCh37/hg19 10q21.3(chr10:68295495-68526163)x1
GRCh37/hg19 10q23.31(chr10:89685057-89721049)x3
GRCh37/hg19 10q24.31-24.32(chr10:102969339-103234142)x3
GRCh37/hg19 10q24.32(chr10:103421890-103458708)x3
GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3
GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3
GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3
GRCh37/hg19 11q14.1(chr11:77617820-77784237)x3
GRCh37/hg19 12q24.32-24.33(chr12:129156032-129684048)x3
GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3
GRCh37/hg19 13q13.1(chr13:32788224-32896665)x3
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3
GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)
GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4
GRCh37/hg19 14q32.33(chr14:106335742-106732385)x3
GRCh37/hg19 14q32.33(chr14:106763887-107208510)x3
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x1
GRCh37/hg19 15q13.1-13.2(chr15:28958779-30386553)x1
GRCh37/hg19 15q13.3(chr15:32003537-32444044)x3
GRCh37/hg19 15q13.3(chr15:32003537-32444069)x3
GRCh37/hg19 15q13.3(chr15:32003537-32446830)x3
GRCh37/hg19 15q15.3(chr15:43892807-43895810)x1
GRCh37/hg19 15q21.2(chr15:51673125-51942596)x1
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1
GRCh37/hg19 15q26.1(chr15:91422650-91497515)x1
GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1
GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3
GRCh37/hg19 16p12.2(chr16:21596299-21787031)x1
GRCh37/hg19 16p12.2(chr16:21839340-22552780)
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3
GRCh37/hg19 16p13.12(chr16:12706347-12893819)x1
GRCh37/hg19 16p13.2(chr16:8807079-9045027)x3
GRCh37/hg19 16p13.3(chr16:6749657-7122769)x3
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3
GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3
GRCh37/hg19 17p11.2(chr17:19515340-19536015)x1
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3
GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3
GRCh37/hg19 17q21.31(chr17:42326687-42340104)x3
GRCh37/hg19 17q21.31(chr17:44216013-44275737)x1
GRCh37/hg19 17q23.1(chr17:58075497-58247438)x1
GRCh37/hg19 19p13.2(chr19:10642984-12810067)
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)
GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3
GRCh37/hg19 19q13.42(chr19:55476652-55525075)x1
GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3
GRCh37/hg19 1p31.1(chr1:72536773-72771521)x1
GRCh37/hg19 1p32.3(chr1:51105133-51347658)x1
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3
GRCh37/hg19 1q21.1(chr1:145625692-145770627)x3
GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3
GRCh37/hg19 1q41(chr1:217923165-218542059)x1
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3
GRCh37/hg19 1q44(chr1:246367970-246639585)x1
GRCh37/hg19 1q44(chr1:246530458-246608001)x1
GRCh37/hg19 1q44(chr1:246678242-246797859)x3
GRCh37/hg19 20p12.3(chr20:7103757-8558193)x3
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35905168)x3
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35908414)x3
GRCh37/hg19 22q11.21(chr22:19058829-19163604)x1
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3
GRCh37/hg19 22q12.3(chr22:36831028-37009180)x3
GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3
GRCh37/hg19 2p16.1(chr2:56141953-56942624)x3
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1
GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1
GRCh37/hg19 2q13(chr2:111409518-113127751)x3
GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3
GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3
GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3
GRCh37/hg19 2q32.1(chr2:183764930-187399282)x1
GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1
GRCh37/hg19 3p22.3(chr3:33106426-33110558)x1
GRCh37/hg19 3p25.1(chr3:14188805-14189498)x1
GRCh37/hg19 3p26.3(chr3:1125700-1301859)x3
GRCh37/hg19 3p26.3(chr3:2593544-2655924)x4
GRCh37/hg19 3p26.3(chr3:282750-2091065)x1
GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1
GRCh37/hg19 3q26.32(chr3:176045735-177376007)x3
GRCh37/hg19 3q26.32(chr3:176619468-176888817)x3
GRCh37/hg19 3q29(chr3:194161542-194998084)x3
GRCh37/hg19 3q29(chr3:196381502-196771786)x3
GRCh37/hg19 4q22.1(chr4:92188768-92235446)x3
GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3
GRCh37/hg19 4q35.2(chr4:187853427-189952978)x1
GRCh37/hg19 5q13.2(chr5:70925030-70953012)x0
GRCh37/hg19 5q23.1(chr5:116419511-120022321)x3
GRCh37/hg19 5q33.1(chr5:151271611-151328403)x3
GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1
GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1
GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1
GRCh37/hg19 7p11.2(chr7:55973193-56012570)x3
GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1
GRCh37/hg19 7p14.1(chr7:40026937-40170245)x3
GRCh37/hg19 7p21.3(chr7:7516346-8018481)x1
GRCh37/hg19 7p22.2(chr7:3543270-4045261)x3
GRCh37/hg19 7q11.23(chr7:75146857-75234346)x3
GRCh37/hg19 7q31.1(chr7:111051119-111197513)x1
GRCh37/hg19 7q31.1(chr7:111138678-111202263)x1
GRCh37/hg19 7q31.1(chr7:111339228-111473040)x3
GRCh37/hg19 7q31.1(chr7:111753333-112016056)x1
GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3
GRCh37/hg19 7q36.3(chr7:156886376-159119707)x1
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1
GRCh37/hg19 8p23.1-22(chr8:12559475-13050887)x3
GRCh37/hg19 9q33.1(chr9:119382179-119425090)x1
GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1
GRCh37/hg19 Xp11.21(chrX:56301687-56431164)x3
GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1
GRCh37/hg19 Xp21.1(chrX:32232129-32536506)x1
GRCh37/hg19 Xp21.1(chrX:34628048-37181355)x0
GRCh37/hg19 Xp21.1(chrX:37526649-37554684)x3
GRCh37/hg19 Xp21.2(chrX:29417558-29938361)x3
GRCh37/hg19 Xp22.11(chrX:22196359-22196761)x1
GRCh37/hg19 Xp22.11(chrX:23351116-23530035)x3
GRCh37/hg19 Xp22.32-22.31(chrX:5966333-6121580)x3
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2
GRCh37/hg19 Xq21.1(chrX:77032238-77144366)x3
GRCh37/hg19 Xq27.1-27.2(chrX:140159973-140609654)x1
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x2
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x3
GRCh37/hg19 Xq28(chrX:151903225-152027245)x3
GRCh37/hg19 Xq28(chrX:153529891-155114697)x3
GRCh37/hg19 Xq28(chrX:154773423-154797292)x0
GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3
GRCh38/hg38 Xp22.33(chrX:3678994-3822165)x2
NCBI36/hg18 10p15.3-14(chr10:1-6889456)x1
NCBI36/hg18 16p11.2(chr16:29385560-30239515)x3
NCBI36/hg18 1q21.1(chr1:143639135-144458626)x3
NCBI36/hg18 1q41-44(chr1:214401568-247249719)
NCBI36/hg18 1q42.2(chr1:229779180-229879929)x3
NCBI36/hg18 2p25.3(chr2:1245633-1879818)x3
NCBI36/hg18 6p12.3(chr6:45579286-46089921)x3
NCBI36/hg18 7q11.22(chr7:69313697-69359559)x1
NCBI36/hg18 9p13.2(chr9:36470667-37047553)x3
NC_000008.11:g.7296399T>C rs201746613
NC_000016.10:g.56989205C>T rs199475962
NC_012920.1(MT-ATP6):m.8636T>C rs2124594840
NC_012920.1(MT-ATP6):m.8723G>T
NC_012920.1(MT-ATP6):m.8806C>T rs2068712160
NC_012920.1(MT-ATP6):m.8821T>A rs1603221825
NC_012920.1(MT-ATP6):m.8878C>T rs2068712730
NC_012920.1(MT-ATP6):m.8946A>T rs879181854
NC_012920.1(MT-CO1):m.6243G>A
NC_012920.1(MT-CO1):m.7191T>C rs1603220824
NC_012920.1(MT-CO2):m.7674T>C rs1569484168
NC_012920.1(MT-CYB):m.15645T>C rs1603225402
NC_012920.1(MT-CYB):m.15909A>G rs1556424690
NC_012920.1(MT-CYB):m.15977C>T rs1556424716
NC_012920.1(MT-CYB):m.1643A>G rs1603218595
NC_012920.1(MT-CYB):m.263A>G rs2853515
NC_012920.1(MT-CYB):m.5575T>C rs1603220034
NC_012920.1(MT-CYB):m.5640A>G rs1603220065
NC_012920.1(MT-CYB):m.750A>G rs2853518
NC_012920.1(MT-ND1):m.3357G>C rs1556422714
NC_012920.1(MT-ND4):m.10887A>G rs1603223004
NC_012920.1(MT-ND4L):m.10491A>G rs2124596211
NC_012920.1(MT-ND5):m.12499A>G rs2068732035
NC_012920.1(MT-ND5):m.13547C>T rs2068736660
NC_012920.1(MT-TC):m.5805A>G
NC_012920.1(MT-TH):m.12187C>T rs2068730503
NC_012920.1(MT-TT):m.15917C>T rs2068749891
NC_012920.1:m.10018A>G rs1556423757
NC_012920.1:m.14706A>G rs1057516070
NC_012920.1:m.15492T>C rs1556424593
NC_012920.1:m.15708G>A rs1556424649
NC_012920.1:m.3010G>A rs3928306
NC_012920.1:m.4277T>C rs876661358
NC_012920.1:m.4315A>G rs876661359
NC_012920.1:m.4769A>G rs3021086
NC_012920.1:m.5505A>G rs1569484003
NC_012920.1:m.5561T>C rs1556423009
NC_012920.1:m.8568C>T rs1603221589
NC_012920.1:m.8651T>C rs1556423512
NC_012920.1:m.9041A>G rs879244322
NC_012920.1:m.9157G>A rs1556423625
NC_012920.1:m.9813T>A rs1556423727
NM_000016.6(ACADM):c.119-2A>G rs1376804614
NM_000016.6(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.6(ACADM):c.388-2A>G
NM_000016.6(ACADM):c.850-1G>A
NM_000018.4(ACADVL):c.1270-1G>A rs2142984967
NM_000018.4(ACADVL):c.277+2T>C rs1555527745
NM_000021.4(PSEN1):c.1094C>A (p.Ser365Tyr) rs63750941
NM_000021.4(PSEN1):c.1130G>T (p.Arg377Met) rs63751051
NM_000021.4(PSEN1):c.1133G>T (p.Gly378Val) rs63750323
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) rs63750687
NM_000021.4(PSEN1):c.1151G>C (p.Gly384Ala) rs63750646
NM_000021.4(PSEN1):c.1157T>C (p.Phe386Ser) rs63749860
NM_000021.4(PSEN1):c.1169G>T (p.Ser390Ile) rs63750883
NM_000021.4(PSEN1):c.1171G>T (p.Val391Phe) rs63751066
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) rs63751416
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) rs63750218
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val) rs63750929
NM_000021.4(PSEN1):c.1214A>G (p.Asn405Ser) rs63751254
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1254G>T (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.1259T>G (p.Leu420Arg) rs63750802
NM_000021.4(PSEN1):c.1271T>G (p.Leu424Arg) rs63751032
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1303C>T (p.Leu435Phe) rs63750001
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) rs63749925
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.1318_1320del (p.Thr440del) rs63750470
NM_000021.4(PSEN1):c.244G>C (p.Val82Leu) rs63749967
NM_000021.4(PSEN1):c.247_252del (p.Ile83_Met84del) rs63750307
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) rs63750815
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) rs63751141
NM_000021.4(PSEN1):c.286G>T (p.Val96Phe) rs63750601
NM_000021.4(PSEN1):c.289G>T (p.Val97Leu) rs63750852
NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile) rs63750325
NM_000021.4(PSEN1):c.315T>G (p.Phe105Leu) rs63750321
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.343T>G (p.Tyr115Asp) rs63749962
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) rs63750730
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser) rs63750550
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) rs63749805
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) rs63751272
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.416T>C (p.Met139Thr) rs63751106
NM_000021.4(PSEN1):c.417G>A (p.Met139Ile) rs63750522
NM_000021.4(PSEN1):c.427A>T (p.Ile143Phe) rs63750322
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.429T>G (p.Ile143Met) rs63751071
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.440C>T (p.Thr147Ile) rs63750907
NM_000021.4(PSEN1):c.457C>G (p.Leu153Val) rs63751441
NM_000021.4(PSEN1):c.460T>A (p.Tyr154Asn) rs63750588
NM_000021.4(PSEN1):c.461A>G (p.Tyr154Cys) rs63751292
NM_000021.4(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle) rs63750631
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) rs63749885
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.493T>G (p.Trp165Gly) rs63751010
NM_000021.4(PSEN1):c.495G>C (p.Trp165Cys) rs63751484
NM_000021.4(PSEN1):c.496_498del (p.Leu166del) rs63751458
NM_000021.4(PSEN1):c.497T>G (p.Leu166Arg) rs63750265
NM_000021.4(PSEN1):c.498TAT[1] (p.Ile168del) rs63750879
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) rs63750418
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu) rs63751210
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro) rs63750963
NM_000021.4(PSEN1):c.518T>G (p.Leu173Trp) rs63750299
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
NM_000021.4(PSEN1):c.521T>G (p.Leu174Arg) rs63751025
NM_000021.4(PSEN1):c.524T>C (p.Phe175Ser) rs63750771
NM_000021.4(PSEN1):c.529T>C (p.Phe177Leu) rs63749911
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser) rs63749806
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) rs63750311
NM_000021.4(PSEN1):c.616G>A (p.Gly206Ser) rs63750569
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) rs63750082
NM_000021.4(PSEN1):c.625G>A (p.Gly209Arg) rs63749880
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.637A>T (p.Ile213Phe) rs63750861
NM_000021.4(PSEN1):c.638T>C (p.Ile213Thr) rs63751309
NM_000021.4(PSEN1):c.640C>T (p.His214Tyr) rs63751003
NM_000021.4(PSEN1):c.650G>A (p.Gly217Asp) rs63750444
NM_000021.4(PSEN1):c.655C>T (p.Leu219Phe) rs63749987
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) rs63750761
NM_000021.4(PSEN1):c.665A>G (p.Gln222Arg) rs63750009
NM_000021.4(PSEN1):c.666G>C (p.Gln222His) rs63751072
NM_000021.4(PSEN1):c.676C>T (p.Leu226Phe) rs63750487
NM_000021.4(PSEN1):c.677T>G (p.Leu226Arg) rs63749961
NM_000021.4(PSEN1):c.685A>T (p.Ile229Phe) rs63749970
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.692C>T (p.Ala231Val) rs63750799
NM_000021.4(PSEN1):c.697A>T (p.Met233Leu) rs63751287
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) rs63751024
NM_000021.4(PSEN1):c.699G>C (p.Met233Ile) rs63751479
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000021.4(PSEN1):c.704T>C (p.Leu235Pro) rs63749835
NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu) rs63750858
NM_000021.4(PSEN1):c.733A>C (p.Thr245Pro) rs63750888
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.748T>G (p.Leu250Val) rs63750634
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) rs63751163
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) rs63751320
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val) rs63751420
NM_000021.4(PSEN1):c.781G>T (p.Val261Phe) rs63750964
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.787T>C (p.Cys263Arg) rs63750543
NM_000021.4(PSEN1):c.788G>T (p.Cys263Phe) rs63751102
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000021.4(PSEN1):c.805C>G (p.Arg269Gly) rs63751019
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) rs63750886
NM_000021.4(PSEN1):c.815T>C (p.Val272Ala) rs63750680
NM_000021.4(PSEN1):c.818A>C (p.Glu273Ala) rs63750772
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.834A>C (p.Arg278Ser) rs63750524
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.844C>G (p.Leu282Val) rs63749937
NM_000021.4(PSEN1):c.845T>G (p.Leu282Arg) rs63750050
NM_000021.4(PSEN1):c.850C>T (p.Pro284Ser) rs63750324
NM_000021.4(PSEN1):c.851C>T (p.Pro284Leu) rs63750863
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val) rs63751139
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000021.4(PSEN1):c.869-1624_956-2453del
NM_000021.4(PSEN1):c.869-1G>T rs63750219
NM_000021.4(PSEN1):c.869-2000_956-1526del
NM_000021.4(PSEN1):c.871A>C (p.Thr291Pro) rs63750298
NM_000022.4(ADA):c.679-1G>A
NM_000038.6(APC):c.220+2T>C rs587781809
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2845A>G (p.Met949Val) rs587781348
NM_000038.6(APC):c.3535T>C (p.Tyr1179His) rs751249843
NM_000038.6(APC):c.4010_4013dup (p.Gln1338fs) rs1131691256
NM_000038.6(APC):c.5803del (p.Gln1935fs) rs1131691253
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000041.4(APOE):c.292del (p.Glu98fs) rs527236160
NM_000043.6(FAS):c.444-1G>C rs1214700896
NM_000051.4(ATM):c.2922-2A>T rs1591603471
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter) rs1131691254
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val) rs876659701
NM_000053.4(ATP7B):c.222G>C (p.Lys74Asn) rs587776496
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2836del (p.Asp946fs) rs80359358
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln) rs80358929
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys) rs1555287788
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000062.3(SERPING1):c.1289T>A (p.Leu430Gln) rs281875174
NM_000062.3(SERPING1):c.1322T>C (p.Met441Thr) rs281875175
NM_000062.3(SERPING1):c.1340T>C (p.Leu447Pro) rs281875176
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser) rs28940870
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>T (p.Arg466Leu) rs121907948
NM_000062.3(SERPING1):c.1418T>G (p.Val473Gly) rs281875177
NM_000062.3(SERPING1):c.1490A>G (p.Asp497Gly) rs281875178
NM_000062.3(SERPING1):c.461A>G (p.Tyr154Cys) rs281875168
NM_000062.3(SERPING1):c.509C>T (p.Ser170Phe) rs281875169
NM_000062.3(SERPING1):c.51G>A (p.Gly17=) rs199473715
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.689T>C (p.Leu230Pro) rs281875171
NM_000062.3(SERPING1):c.695T>A (p.Ile232Lys) rs281875172
NM_000062.3(SERPING1):c.895T>C (p.Trp299Arg) rs281875173
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000077.5(CDKN2A):c.150+1G>T rs2131111833
NM_000077.5(CDKN2A):c.151-1G>A rs730881677
NM_000077.5(CDKN2A):c.151-1G>T rs730881677
NM_000077.5(CDKN2A):c.151-2A>C rs1554654224
NM_000077.5(CDKN2A):c.151-2A>G rs1554654224
NM_000077.5(CDKN2A):c.151-2A>T rs1554654224
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.457+1G>A rs1587330312
NM_000077.5(CDKN2A):c.457+1G>T rs1587330312
NM_000077.5(CDKN2A):c.457+2T>C rs1587330309
NM_000077.5(CDKN2A):c.458-1G>A rs2131079543
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000082.4(ERCC8):c.582G>C (p.Trp194Cys) rs281875223
NM_000082.4(ERCC8):c.605T>C (p.Leu202Ser) rs281875224
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000097.7(CPOX):c.-10G>A rs867711777
NM_000101.4(CYBA):c.158A>T (p.Glu53Val) rs179363893
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.74G>T (p.Gly25Val) rs179363891
NM_000107.3(DDB2):c.1235-1G>A rs2135519486
NM_000108.5(DLD):c.1236+1G>A rs1554400483
NM_000110.4(DPYD):c.*173T>C rs672601272
NM_000110.4(DPYD):c.*736A>T rs672601271
NM_000110.4(DPYD):c.*911A>G rs672601270
NM_000110.4(DPYD):c.*961A>G rs672601269
NM_000110.4(DPYD):c.1129-11T>G rs672601283
NM_000110.4(DPYD):c.1741-65C>T rs672601281
NM_000110.4(DPYD):c.2299+100C>T rs34534958
NM_000110.4(DPYD):c.2300-40G>T rs672601278
NM_000110.4(DPYD):c.2301G>T (p.Gly767=) rs672601277
NM_000110.4(DPYD):c.233+36T>C rs672601290
NM_000110.4(DPYD):c.2532A>G (p.Glu844=) rs672601275
NM_000110.4(DPYD):c.2598A>G (p.Pro866=) rs672601274
NM_000110.4(DPYD):c.265A>T (p.Lys89Ter) rs672601289
NM_000110.4(DPYD):c.269G>T (p.Ser90Ile) rs672601288
NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr) rs672601273
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) rs114096998
NM_000110.4(DPYD):c.542A>C (p.Lys181Thr) rs672601287
NM_000110.4(DPYD):c.850+90T>C rs672601286
NM_000110.4(DPYD):c.869A>G (p.Lys290Arg) rs672601285
NM_000110.4(DPYD):c.887G>A (p.Gly296Asp) rs672601284
NM_000110.4(DPYD):c.959-51T>C rs115349832
NM_000122.2(ERCC3):c.657+6T>C
NM_000128.4(F11):c.1079T>C (p.Leu360Pro) rs281875254
NM_000128.4(F11):c.1201T>C (p.Trp401Arg) rs281875262
NM_000128.4(F11):c.1361T>A (p.Ile454Lys) rs281875241
NM_000128.4(F11):c.1442T>G (p.Ile481Ser) rs281875242
NM_000128.4(F11):c.1507T>C (p.Ser503Pro) rs140068026
NM_000128.4(F11):c.151A>C (p.Thr51Pro) rs281875243
NM_000128.4(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.4(F11):c.1531T>C (p.Tyr511His) rs281875278
NM_000128.4(F11):c.1541G>T (p.Cys514Phe) rs281875249
NM_000128.4(F11):c.159C>A (p.His53Gln) rs281875261
NM_000128.4(F11):c.1822T>C (p.Tyr608His) rs281875255
NM_000128.4(F11):c.452A>G (p.Tyr151Cys) rs281875273
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.4(F11):c.738G>C (p.Trp246Cys) rs281875279
NM_000128.4(F11):c.755G>C (p.Arg252Thr) rs281875260
NM_000128.4(F11):c.764G>A (p.Cys255Tyr) rs281875277
NM_000128.4(F11):c.788G>A (p.Gly263Glu) rs281875274
NM_000128.4(F11):c.827C>G (p.Ser276Cys) rs281875247
NM_000128.4(F11):c.830G>A (p.Gly277Asp) rs281875248
NM_000128.4(F11):c.94G>A (p.Gly32Arg) rs281875259
NM_000128.4(F11):c.992C>T (p.Thr331Ile) rs281875253
NM_000135.4(FANCA):c.3828+2T>A rs2151716694
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000137.4(FAH):c.455+5G>A
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser) rs2044551186
NM_000138.5(FBN1):c.6787A>C (p.Met2263Leu) rs2043017749
NM_000143.4(FH):c.904+2_904+3delinsGG
NM_000152.5(GAA):c.1754+2T>G rs2143884018
NM_000155.4(GALT):c.163G>T (p.Gly55Cys) rs111033654
NM_000155.4(GALT):c.197C>A (p.Pro66His) rs111033656
NM_000168.6(GLI3):c.1812+3A>T rs796064500
NM_000178.4(GSS):c.1302-1G>A rs2147119570
NM_000179.3(MSH6):c.-6G>A rs730881822
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.3(MSH6):c.2337T>G (p.Cys779Trp) rs1553413707
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe) rs786202628
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala) rs1553414327
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3989T>G (p.Leu1330Arg) rs774395829
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1026+172del rs61750197
NM_000180.4(GUCY2D):c.1084G>T (p.Ala362Ser) rs61749677
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1379-28A>G rs61749680
NM_000180.4(GUCY2D):c.1424_1431dup (p.Leu478fs) rs61749681
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.1615A>G (p.Ile539Val) rs61749753
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) rs63749078
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.1957-1G>A rs61749759
NM_000180.4(GUCY2D):c.1957-1G>T rs61749759
NM_000180.4(GUCY2D):c.1957G>A (p.Gly653Arg) rs61750160
NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs) rs61750163
NM_000180.4(GUCY2D):c.2080C>A (p.Gln694Lys) rs61750164
NM_000180.4(GUCY2D):c.2237A>G (p.Tyr746Cys) rs61750166
NM_000180.4(GUCY2D):c.2248G>T (p.Glu750Ter) rs61750167
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2317A>C (p.Met773Leu) rs61750169
NM_000180.4(GUCY2D):c.2346C>A (p.Leu782=) rs61750170
NM_000180.4(GUCY2D):c.2384G>T (p.Arg795Leu) rs61750171
NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp) rs28933695
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2566A>G (p.Met856Val) rs61750175
NM_000180.4(GUCY2D):c.2572C>T (p.Pro858Ser) rs61750176
NM_000180.4(GUCY2D):c.2745C>T (p.Ile915=) rs61750177
NM_000180.4(GUCY2D):c.2749G>C (p.Gly917Arg) rs61750178
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2951G>A (p.Cys984Tyr) rs61750186
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3055C>A (p.His1019Asn) rs61750190
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) rs281865411
NM_000180.4(GUCY2D):c.3108G>T (p.Gln1036His) rs61750193
NM_000180.4(GUCY2D):c.3118C>G (p.Arg1040Gly) rs61750194
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.314G>A (p.Cys105Tyr) rs61749669
NM_000180.4(GUCY2D):c.3206del (p.Pro1069fs) rs61750196
NM_000180.4(GUCY2D):c.3237_3238insCAAC (p.Gly1080fs) rs281865412
NM_000180.4(GUCY2D):c.3282G>T (p.Leu1094=) rs281865413
NM_000180.4(GUCY2D):c.341T>C (p.Val114Ala) rs61750198
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.577C>T (p.Leu193=) rs61750199
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.779T>C (p.Leu260Pro) rs61749672
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.974T>C (p.Leu325Pro) rs61749675
NM_000182.5(HADHA):c.2083G>A (p.Ala695Thr) rs587776501
NM_000182.5(HADHA):c.677-1G>A rs1553314070
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000211.5(ITGB2):c.2147G>C (p.Gly716Ala) rs179363872
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.899A>T (p.Asp300Val) rs179363874
NM_000214.3(JAG1):c.695-12T>A rs886039498
NM_000218.3(KCNQ1):c.1003T>C (p.Phe335Leu) rs199472757
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1283A>G (p.Asp428Gly) rs199472779
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1451G>C (p.Ser484Thr) rs199473477
NM_000218.3(KCNQ1):c.1685+2T>C rs1590081467
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.356G>A (p.Gly119Asp) rs199472680
NM_000218.3(KCNQ1):c.40C>T (p.Arg14Cys) rs199473444
NM_000218.3(KCNQ1):c.579T>A (p.Phe193Leu) rs199473454
NM_000218.3(KCNQ1):c.760_768del (p.Val254_Phe256del) rs397508124
NM_000219.6(KCNE1):c.115G>A (p.Asp39Asn) rs199473352
NM_000219.6(KCNE1):c.155G>C (p.Gly52Ala) rs17173509
NM_000219.6(KCNE1):c.202T>A (p.Ser68Thr) rs199473393
NM_000219.6(KCNE1):c.220T>G (p.Ser74Ala) rs199473357
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000219.6(KCNE1):c.235A>G (p.Asn79Asp) rs199473358
NM_000219.6(KCNE1):c.242A>T (p.Tyr81Phe) rs199473359
NM_000223.4(KRT12):c.1276A>G (p.Ile426Val) rs59465138
NM_000223.4(KRT12):c.1277T>G (p.Ile426Ser) rs59350319
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp) rs58162394
NM_000223.4(KRT12):c.1286A>G (p.Tyr429Cys) rs59202432
NM_000223.4(KRT12):c.1289G>C (p.Arg430Pro) rs62635290
NM_000223.4(KRT12):c.1298T>G (p.Leu433Arg) rs267607386
NM_000223.4(KRT12):c.385A>G (p.Met129Val) rs267607387
NM_000223.4(KRT12):c.386T>C (p.Met129Thr) rs28936695
NM_000223.4(KRT12):c.389A>C (p.Gln130Pro) rs58864803
NM_000223.4(KRT12):c.399T>G (p.Asn133Lys) rs61167390
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly) rs58410481
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr) rs57218384
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile) rs57218384
NM_000223.4(KRT12):c.405A>C (p.Arg135Ser) rs61282718
NM_000223.4(KRT12):c.409G>C (p.Ala137Pro) rs58038639
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg) rs58918655
NM_000223.4(KRT12):c.427G>C (p.Val143Leu) rs58343600
NM_000223.4(KRT12):c.427G>T (p.Val143Leu) rs58343600
NM_000223.4(KRT12):c.55C>T (p.Arg19Trp) rs200258980
NM_000224.3(KRT18):c.-15C>T rs267607653
NM_000224.3(KRT18):c.1018G>A (p.Gly340Arg) rs57370769
NM_000224.3(KRT18):c.193_216del (p.Thr65_Ala72del) rs267607417
NM_000224.3(KRT18):c.827A>G (p.Glu276Gly) rs61696408
NM_000226.4(KRT9):c.1360T>C (p.Tyr454His) rs267607420
NM_000226.4(KRT9):c.1363_1365dup (p.His455dup) rs57909628
NM_000226.4(KRT9):c.1372C>T (p.Leu458Phe) rs58120120
NM_000226.4(KRT9):c.216C>T (p.Ser72=) rs57483266
NM_000226.4(KRT9):c.426A>C (p.Gly142=) rs58061921
NM_000226.4(KRT9):c.429A>C (p.Gly143=) rs8075921
NM_000226.4(KRT9):c.469A>G (p.Met157Val) rs58597584
NM_000226.4(KRT9):c.470T>A (p.Met157Lys) rs59510579
NM_000226.4(KRT9):c.470T>C (p.Met157Thr) rs59510579
NM_000226.4(KRT9):c.470T>G (p.Met157Arg) rs59510579
NM_000226.4(KRT9):c.478C>G (p.Leu160Val) rs28940896
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe) rs28940896
NM_000226.4(KRT9):c.481A>C (p.Asn161His) rs59296273
NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr) rs59296273
NM_000226.4(KRT9):c.482A>G (p.Asn161Ser) rs56707768
NM_000226.4(KRT9):c.482A>T (p.Asn161Ile) rs56707768
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000226.4(KRT9):c.484T>C (p.Ser162Pro) rs267607419
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000226.4(KRT9):c.488G>C (p.Arg163Pro) rs57758262
NM_000226.4(KRT9):c.500delinsGGCT (p.Tyr167delinsTrpLeu) rs59317143
NM_000226.4(KRT9):c.503T>C (p.Leu168Ser) rs61157095
NM_000226.4(KRT9):c.508A>T (p.Lys170Ter) rs58149344
NM_000226.4(KRT9):c.511G>A (p.Val171Met) rs57019720
NM_000226.4(KRT9):c.515A>C (p.Gln172Pro) rs59878153
NM_000237.3(LPL):c.*364A>C rs137854428
NM_000238.4(KCNH2):c.1332G>T (p.Glu444Asp) rs9770044
NM_000238.4(KCNH2):c.2167T>C (p.Cys723Arg) rs199472987
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_000238.4(KCNH2):c.2773G>A (p.Gly925Arg) rs199473010
NM_000238.4(KCNH2):c.2857del (p.Leu953fs) rs794728503
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3173C>A (p.Ala1058Glu) rs41313752
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg) rs199473498
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val) rs199473031
NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser) rs199473548
NM_000238.4(KCNH2):c.559G>A (p.Gly187Ser) rs199472867
NM_000238.4(KCNH2):c.607G>A (p.Ala203Thr) rs199472868
NM_000238.4(KCNH2):c.644T>G (p.Val215Gly) rs199473500
NM_000238.4(KCNH2):c.751C>G (p.Pro251Ala) rs199472873
NM_000238.4(KCNH2):c.762C>G (p.His254Gln) rs199473502
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000245.4(MET):c.3028+1G>A rs869320707
NM_000245.4(MET):c.3028+1G>C rs869320707
NM_000245.4(MET):c.3028+1G>T rs869320707
NM_000245.4(MET):c.3028+2T>C rs1794851763
NM_000245.4(MET):c.3028+2T>G rs1794851763
NM_000246.3(CIITA):c.-696C>T rs199476055
NM_000246.4(CIITA):c.1007-54C>T rs199476068
NM_000246.4(CIITA):c.1957C>A (p.Pro653Thr) rs199476071
NM_000246.4(CIITA):c.2657+107C>A rs199476073
NM_000246.4(CIITA):c.2945C>T (p.Ala982Val) rs199476077
NM_000246.4(CIITA):c.3149+224C>G rs199476079
NM_000246.4(CIITA):c.3150-77A>C rs199476080
NM_000246.4(CIITA):c.359-23G>T rs199476062
NM_000246.4(CIITA):c.482-162C>T rs199476064
NM_000246.4(CIITA):c.580G>A (p.Glu194Lys) rs199476065
NM_000246.4(CIITA):c.628+84G>A rs199476066
NM_000249.3(MLH1):c.*281G>T rs104895003
NM_000249.4(MLH1):c.-27C>T rs587779001
NM_000249.4(MLH1):c.1039-6A>T rs1131692027
NM_000249.4(MLH1):c.1154G>C (p.Arg385Pro) rs63750430
NM_000249.4(MLH1):c.1226A>C (p.Gln409Pro) rs104895000
NM_000249.4(MLH1):c.1668-35G>A rs104895001
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1912G>A (p.Gly638Arg) rs63750549
NM_000249.4(MLH1):c.2180A>T (p.His727Leu) rs104895002
NM_000249.4(MLH1):c.380+16C>G rs121909452
NM_000249.4(MLH1):c.788A>C (p.Asn263Thr) rs104894997
NM_000251.2(MSH2):c.*387C>A rs104895028
NM_000251.3(MSH2):c.*61T>A rs104895027
NM_000251.3(MSH2):c.1076+176A>G rs104895023
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe) rs17217723
NM_000251.3(MSH2):c.2179G>T (p.Ala727Ser) rs104895026
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.2515C>G (p.His839Asp) rs876659466
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys) rs2104027960
NM_000251.3(MSH2):c.928del (p.Asn311fs) rs1064793179
NM_000255.4(MMUT):c.-11C>A rs483352790
NM_000255.4(MMUT):c.-13T>A rs483352784
NM_000255.4(MMUT):c.-17T>A rs483352789
NM_000255.4(MMUT):c.-34T>A rs483352796
NM_000255.4(MMUT):c.-34_-33insA rs483352797
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.-37C>A rs483352794
NM_000255.4(MMUT):c.-39-13T>G rs483352791
NM_000255.4(MMUT):c.-39-1_-39insA rs483352792
NM_000255.4(MMUT):c.-39-3T>A rs483352799
NM_000255.4(MMUT):c.-39-3del rs483352801
NM_000255.4(MMUT):c.-39-5del rs483352800
NM_000255.4(MMUT):c.-6T>A rs483352782
NM_000255.4(MMUT):c.15G>A (p.Lys5=) rs483352779
NM_000255.4(MMUT):c.165C>A (p.Asn55Lys) rs483352780
NM_000255.4(MMUT):c.385+18_385+19insT rs483352803
NM_000255.4(MMUT):c.385+29del rs483352787
NM_000255.4(MMUT):c.385+30A>C rs483352785
NM_000255.4(MMUT):c.385+31del rs483352788
NM_000255.4(MMUT):c.385+33A>C rs483352786
NM_000255.4(MMUT):c.385+34_385+35insC rs483352798
NM_000255.4(MMUT):c.385+43del rs483352802
NM_000255.4(MMUT):c.385+46del rs483352793
NM_000255.4(MMUT):c.385+9T>C rs483352783
NM_000255.4(MMUT):c.7del (p.Arg3fs) rs483352781
NM_000256.3(MYBPC3):c.3029_3030del (p.Glu1010fs) rs730880665
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.929A>G (p.Asp310Gly) rs1131692033
NM_000257.4(MYH7):c.5283+2dup rs1566522824
NM_000258.3(MYL3):c.167A>G (p.Glu56Gly) rs199474702
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.382G>T (p.Gly128Cys) rs199474704
NM_000258.3(MYL3):c.454G>A (p.Glu152Lys) rs199474705
NM_000258.3(MYL3):c.463C>G (p.His155Asp) rs199474706
NM_000258.3(MYL3):c.482-2A>G rs111617556
NM_000264.5(PTCH1):c.2561-1G>A rs1131691700
NM_000264.5(PTCH1):c.2703+1G>C rs2136686539
NM_000266.4(NDP):c.185T>C (p.Leu62Pro) rs2147204870
NM_000268.4(NF2):c.1575-1G>A rs2147122288
NM_000268.4(NF2):c.363+1G>A rs1601583839
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.116T>G (p.Leu39Arg) rs62635019
NM_000273.3(GPR143):c.13C>T (p.Arg5Cys) rs62635289
NM_000273.3(GPR143):c.155_161del (p.Arg52fs) rs281865176
NM_000273.3(GPR143):c.165_193del (p.Pro57fs) rs63749126
NM_000273.3(GPR143):c.174_175insC (p.Ser59fs) rs62635022
NM_000273.3(GPR143):c.175del (p.Ser59fs) rs62635023
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) rs62635024
NM_000273.3(GPR143):c.233A>T (p.Asp78Val) rs62635025
NM_000273.3(GPR143):c.250G>C (p.Gly84Arg) rs62635026
NM_000273.3(GPR143):c.251-1G>C rs281865177
NM_000273.3(GPR143):c.251G>A (p.Gly84Asp) rs62635027
NM_000273.3(GPR143):c.310del (p.Asp104fs) rs62635028
NM_000273.3(GPR143):c.346T>C (p.Cys116Arg) rs62635030
NM_000273.3(GPR143):c.347G>C (p.Cys116Ser) rs62635029
NM_000273.3(GPR143):c.353G>A (p.Gly118Glu) rs62635031
NM_000273.3(GPR143):c.360+5G>C rs281865179
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.402del (p.Cys136fs) rs62635034
NM_000273.3(GPR143):c.413C>T (p.Ala138Val) rs62635762
NM_000273.3(GPR143):c.444_445insAGATCGG (p.Ala149fs) rs281865180
NM_000273.3(GPR143):c.455+1G>C rs281865181
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.518C>A (p.Ala173Asp) rs62635035
NM_000273.3(GPR143):c.677del (p.Gly226fs) rs281865182
NM_000273.3(GPR143):c.686G>T (p.Gly229Val) rs62635037
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.705G>A (p.Glu235=) rs62635039
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.779A>T (p.Asn260Ile) rs62635042
NM_000273.3(GPR143):c.812A>G (p.Glu271Gly) rs62635043
NM_000273.3(GPR143):c.870_872del (p.Thr291del) rs62635044
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000273.3(GPR143):c.876G>A (p.Trp292Ter) rs62635046
NM_000273.3(GPR143):c.876G>T (p.Trp292Cys) rs62635046
NM_000273.3(GPR143):c.885+1G>A rs281865184
NM_000273.3(GPR143):c.931_932insCG (p.Tyr311fs) rs62635047
NM_000277.1(PAH):c.169-?_352+?del
NM_000277.1(PAH):c.442-?_509+?del
NM_000277.1(PAH):c.442-?_706+?del
NM_000277.1:c.1-?_168+?del
NM_000277.2(PAH):c.-225G>A rs199475594
NM_000277.2(PAH):c.1066_1067ins6
NM_000277.2(PAH):c.1200-1delG rs63186960
NM_000277.2(PAH):c.169_171delGAG rs199475665
NM_000277.3(PAH):c.-1C>T rs62507266
NM_000277.3(PAH):c.-4172_-406del3767
NM_000277.3(PAH):c.1001G>C (p.Cys334Ser) rs62517174
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter) rs62516061
NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) rs62508735
NM_000277.3(PAH):c.1010G>T (p.Gly337Val) rs62517206
NM_000277.3(PAH):c.1019T>C (p.Ile340Thr) rs62508720
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter) rs62517200
NM_000277.3(PAH):c.1022A>C (p.Lys341Thr) rs62516153
NM_000277.3(PAH):c.1022A>G (p.Lys341Arg) rs62516153
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) rs62507282
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro) rs62507282
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp) rs62508651
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1028A>T (p.Tyr343Phe) rs62507265
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser) rs62508679
NM_000277.3(PAH):c.1030G>C (p.Gly344Arg) rs62508679
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp) rs62508582
NM_000277.3(PAH):c.1031G>T (p.Gly344Val) rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1036G>A (p.Gly346Arg) rs62508688
NM_000277.3(PAH):c.1036G>C (p.Gly346Arg) rs62508688
NM_000277.3(PAH):c.1038del (p.Leu347fs) rs62516063
NM_000277.3(PAH):c.1039C>T (p.Leu347Phe) rs62516154
NM_000277.3(PAH):c.1043_1053del (p.Leu348fs) rs199475600
NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs) rs62516157
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala) rs62508646
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter) rs62507279
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu) rs62507279
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr) rs62517183
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.3(PAH):c.1054G>C (p.Gly352Arg) rs62508686
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys) rs62508686
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1056del (p.Glu353fs) rs62507350
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter) rs199475633
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1065+32T>A rs62508724
NM_000277.3(PAH):c.1065+3A>C rs62508689
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1065+7C>A rs62508639
NM_000277.3(PAH):c.1066-14C>G rs62507334
NM_000277.3(PAH):c.1066-1G>A rs62508684
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1069T>G (p.Cys357Gly) rs62508595
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) rs5030854
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr) rs62507329
NM_000277.3(PAH):c.1087_1088del (p.Lys363fs) rs199475667
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1099dup (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) rs62508574
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) rs62507268
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.1117G>A (p.Ala373Thr) rs62508717
NM_000277.3(PAH):c.1117_1118del (p.Ala373fs) rs62516099
NM_000277.3(PAH):c.111dup (p.Ile38fs) rs199475674
NM_000277.3(PAH):c.1127del (p.Asn376fs) rs62642921
NM_000277.3(PAH):c.1129del (p.Tyr377fs) rs62642941
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys) rs62642942
NM_000277.3(PAH):c.1132A>T (p.Thr378Ser) rs62642911
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) rs199475691
NM_000277.3(PAH):c.1159T>C (p.Tyr387His) rs62517194
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1163_1164del (p.Val388fs) rs199475629
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1175T>C (p.Phe392Ser) rs199475695
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) rs62516102
NM_000277.3(PAH):c.1184C>A (p.Ala395Asp) rs62508736
NM_000277.3(PAH):c.1194A>G (p.Lys398=) rs199475638
NM_000277.3(PAH):c.1196_1199del (p.Val399fs) rs199475603
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1199+20G>C rs62509018
NM_000277.3(PAH):c.1199+2T>C rs62508737
NM_000277.3(PAH):c.1199+5G>T rs62508674
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) rs199475658
NM_000277.3(PAH):c.119C>T (p.Ser40Leu) rs62642938
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1204T>C (p.Phe402Leu) rs62508725
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr) rs62644469
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.1220del (p.Pro407fs) rs62644489
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) rs62644475
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys) rs62644475
NM_000277.3(PAH):c.122T>C (p.Leu41Pro) rs62642916
NM_000277.3(PAH):c.1232C>A (p.Ser411Ter) rs62644477
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser) rs62644467
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1249T>A (p.Tyr417Asn) rs62644471
NM_000277.3(PAH):c.1249T>C (p.Tyr417His) rs62644471
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) rs62644501
NM_000277.3(PAH):c.125A>T (p.Lys42Ile) rs62635346
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr) rs199475696
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys) rs199475621
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser) rs199475670
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro) rs199475607
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1316-15T>C rs62508635
NM_000277.3(PAH):c.1316-5T>C rs62509020
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.137del (p.Gly46fs) rs199475591
NM_000277.3(PAH):c.140C>A (p.Ala47Glu) rs118203925
NM_000277.3(PAH):c.155T>C (p.Leu52Ser) rs199475630
NM_000277.3(PAH):c.163_165del (p.Phe55del) rs199475631
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168+5G>T rs62507288
NM_000277.3(PAH):c.168+6T>G rs62516144
NM_000277.3(PAH):c.168G>A (p.Glu56=) rs199475567
NM_000277.3(PAH):c.168G>T (p.Glu56Asp) rs199475567
NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG
NM_000277.3(PAH):c.175G>T (p.Asp59Tyr) rs199475635
NM_000277.3(PAH):c.176A>G (p.Asp59Gly) rs199475672
NM_000277.3(PAH):c.181A>G (p.Asn61Asp) rs199475651
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) rs199475568
NM_000277.3(PAH):c.190C>A (p.His64Asn) rs199475569
NM_000277.3(PAH):c.190del (p.His64fs) rs672601294
NM_000277.3(PAH):c.194T>A (p.Ile65Asn) rs75193786
NM_000277.3(PAH):c.194T>G (p.Ile65Ser) rs75193786
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.1A>T (p.Met1Leu) rs62514891
NM_000277.3(PAH):c.202A>G (p.Arg68Gly) rs199475639
NM_000277.3(PAH):c.205C>T (p.Pro69Ser) rs199475678
NM_000277.3(PAH):c.208T>C (p.Ser70Pro) rs63048261
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.227A>C (p.Glu76Ala) rs62507347
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.231T>G (p.Tyr77Ter) rs62507332
NM_000277.3(PAH):c.232G>A (p.Glu78Lys) rs62507326
NM_000277.3(PAH):c.241_256del (p.Thr81fs) rs63749677
NM_000277.3(PAH):c.265C>T (p.Pro89Ser) rs62507270
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.2T>G (p.Met1Arg) rs62508575
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) rs62508591
NM_000277.3(PAH):c.329C>T (p.Ser110Leu) rs199475627
NM_000277.3(PAH):c.344_347del (p.Lys115fs) rs199475648
NM_000277.3(PAH):c.352+1G>A rs199475684
NM_000277.3(PAH):c.353-6T>A rs62517195
NM_000277.3(PAH):c.359G>A (p.Trp120Ter) rs199475586
NM_000277.3(PAH):c.365C>A (p.Pro122Gln) rs199475622
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.371C>T (p.Thr124Ile) rs199475571
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.386A>T (p.Asp129Val) rs199475623
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.3G>A (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.411C>T (p.Ser137=) rs1801146
NM_000277.3(PAH):c.428A>G (p.Asp143Gly) rs199475572
NM_000277.3(PAH):c.436C>T (p.His146Tyr) rs199475599
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.443_509+1del rs199475649
NM_000277.3(PAH):c.451G>C (p.Asp151His) rs199475597
NM_000277.3(PAH):c.452A>G (p.Asp151Gly) rs199475625
NM_000277.3(PAH):c.460T>A (p.Tyr154Asn) rs199475587
NM_000277.3(PAH):c.460T>C (p.Tyr154His) rs199475587
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.466G>C (p.Ala156Pro) rs199475686
NM_000277.3(PAH):c.46T>C (p.Ser16Pro) rs62642946
NM_000277.3(PAH):c.470G>A (p.Arg157Lys) rs199475611
NM_000277.3(PAH):c.470G>T (p.Arg157Ile) rs199475611
NM_000277.3(PAH):c.471A>C (p.Arg157Ser) rs199475612
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.479A>C (p.Gln160Pro) rs199475601
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.491T>C (p.Ile164Thr) rs199475595
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.498C>A (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.502T>C (p.Tyr168His) rs199475646
NM_000277.3(PAH):c.503del (p.Tyr168fs) rs199475661
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.509+1del rs62514911
NM_000277.3(PAH):c.509+54C>G rs62517171
NM_000277.3(PAH):c.509+5del rs62517175
NM_000277.3(PAH):c.509A>G (p.His170Arg) rs199475573
NM_000277.3(PAH):c.510-6T>A rs62507281
NM_000277.3(PAH):c.510-6T>G rs62507281
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.512G>C (p.Gly171Ala) rs199475596
NM_000277.3(PAH):c.514C>T (p.Gln172Ter) rs199475588
NM_000277.3(PAH):c.517C>A (p.Pro173Thr) rs199475574
NM_000277.3(PAH):c.521T>C (p.Ile174Thr) rs138809906
NM_000277.3(PAH):c.523C>G (p.Pro175Ala) rs199475604
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.527G>C (p.Arg176Pro) rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.533A>T (p.Glu178Val) rs77958223
NM_000277.3(PAH):c.535T>C (p.Tyr179His) rs199475671
NM_000277.3(PAH):c.547G>C (p.Glu183Gln) rs199475664
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.563del (p.Gly188fs) rs62507260
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.586_608del (p.Ser196fs) rs62895363
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.590_612del (p.Ser196_Leu197insTer) rs63083561
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.593_614del (p.Tyr198fs) rs63749676
NM_000277.3(PAH):c.598dup (p.Thr200fs) rs62508643
NM_000277.3(PAH):c.60+40T>G rs199475683
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.608G>A (p.Cys203Tyr) rs62507271
NM_000277.3(PAH):c.609C>G (p.Cys203Trp) rs1801147
NM_000277.3(PAH):c.60G>C (p.Gln20His) rs199475688
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.613G>A (p.Glu205Lys) rs63083560
NM_000277.3(PAH):c.614A>C (p.Glu205Ala) rs62508593
NM_000277.3(PAH):c.616T>G (p.Tyr206Asp) rs62517170
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.619A>G (p.Asn207Asp) rs62508572
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.649T>G (p.Cys217Gly) rs62508718
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.665A>T (p.Asp222Val) rs62507319
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.672T>G (p.Ile224Met) rs199475576
NM_000277.3(PAH):c.673C>G (p.Pro225Ala) rs199475589
NM_000277.3(PAH):c.674C>G (p.Pro225Arg) rs62517204
NM_000277.3(PAH):c.676C>T (p.Gln226Ter) rs62508696
NM_000277.3(PAH):c.678G>C (p.Gln226His) rs62508615
NM_000277.3(PAH):c.689T>G (p.Val230Gly) rs199475673
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.692C>T (p.Ser231Phe) rs62508577
NM_000277.3(PAH):c.699C>A (p.Phe233Leu) rs62517208
NM_000277.3(PAH):c.704A>C (p.Gln235Pro) rs199475656
NM_000277.3(PAH):c.707-1G>A rs62507269
NM_000277.3(PAH):c.707-2A>G rs62514938
NM_000277.3(PAH):c.715G>A (p.Gly239Ser) rs62517178
NM_000277.3(PAH):c.716G>A (p.Gly239Asp) rs62507283
NM_000277.3(PAH):c.716G>C (p.Gly239Ala) rs62507283
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.719T>C (p.Phe240Ser) rs62508594
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.728G>T (p.Arg243Leu) rs62508588
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.3(PAH):c.733G>A (p.Val245Met) rs62508694
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.734T>A (p.Val245Glu) rs76212747
NM_000277.3(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.3(PAH):c.739G>A (p.Gly247Ser) rs62508731
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>A (p.Gly247Asp) rs199475579
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.743T>C (p.Leu248Pro) rs62507340
NM_000277.3(PAH):c.743T>G (p.Leu248Arg) rs62507340
NM_000277.3(PAH):c.746T>A (p.Leu249His) rs62507338
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.760T>A (p.Phe254Ile) rs62642909
NM_000277.3(PAH):c.763T>G (p.Leu255Val) rs62642931
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.769G>A (p.Gly257Ser) rs5030848
NM_000277.3(PAH):c.769G>T (p.Gly257Cys) rs5030848
NM_000277.3(PAH):c.770G>A (p.Gly257Asp) rs62642908
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.791A>T (p.His264Leu) rs199475580
NM_000277.3(PAH):c.793T>G (p.Cys265Gly) rs62517181
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) rs62507335
NM_000277.3(PAH):c.796A>G (p.Thr266Ala) rs62508752
NM_000277.3(PAH):c.797C>A (p.Thr266Lys) rs62508753
NM_000277.3(PAH):c.799C>G (p.Gln267Glu) rs199475676
NM_000277.3(PAH):c.801G>C (p.Gln267His) rs199475675
NM_000277.3(PAH):c.802T>C (p.Tyr268His) rs62507263
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.3(PAH):c.808A>G (p.Arg270Gly) rs199475690
NM_000277.3(PAH):c.810A>T (p.Arg270Ser) rs62514951
NM_000277.3(PAH):c.810_814del (p.His271fs) rs62507286
NM_000277.3(PAH):c.812A>G (p.His271Arg) rs199475692
NM_000277.3(PAH):c.822_832del (p.Lys274fs) rs199475581
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.827T>A (p.Met276Lys) rs62508722
NM_000277.3(PAH):c.827T>G (p.Met276Arg) rs62508722
NM_000277.3(PAH):c.828G>T (p.Met276Ile) rs62514954
NM_000277.3(PAH):c.832A>G (p.Thr278Ala) rs62516156
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.838G>C (p.Glu280Gln) rs62508698
NM_000277.3(PAH):c.838_842+3del rs199475668
NM_000277.3(PAH):c.839A>G (p.Glu280Gly) rs62508734
NM_000277.3(PAH):c.839_840insT (p.Glu280fs) rs199475653
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+1G>T rs5030852
NM_000277.3(PAH):c.842+2T>A rs62514955
NM_000277.3(PAH):c.843-2A>T rs62509019
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.845A>G (p.Asp282Gly) rs199475660
NM_000277.3(PAH):c.850T>C (p.Cys284Arg) rs199475682
NM_000277.3(PAH):c.853C>T (p.His285Tyr) rs199475636
NM_000277.3(PAH):c.856G>A (p.Glu286Lys) rs62508739
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.865G>C (p.Gly289Arg) rs199475693
NM_000277.3(PAH):c.869A>G (p.His290Arg) rs62642919
NM_000277.3(PAH):c.884C>G (p.Ser295Ter) rs62642910
NM_000277.3(PAH):c.895_897del (p.Phe299del) rs62507267
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.907T>C (p.Ser303Pro) rs199475608
NM_000277.3(PAH):c.907T>G (p.Ser303Ala) rs199475608
NM_000277.3(PAH):c.907del (p.Ser303fs) rs62642920
NM_000277.3(PAH):c.911A>G (p.Gln304Arg) rs199475592
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-5T>G rs62507264
NM_000277.3(PAH):c.922C>G (p.Leu308Val) rs62642095
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.929C>A (p.Ser310Tyr) rs62642913
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer) rs62651568
NM_000277.3(PAH):c.935G>A (p.Gly312Asp) rs62642915
NM_000277.3(PAH):c.938C>T (p.Ala313Val) rs62642914
NM_000277.3(PAH):c.940C>T (p.Pro314Ser) rs199475650
NM_000277.3(PAH):c.941del (p.Pro314fs) rs62642907
NM_000277.3(PAH):c.953T>C (p.Ile318Thr) rs62642918
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.969+5G>A rs62508637
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.970-2A>C rs62517199
NM_000277.3(PAH):c.970-5T>A rs62507273
NM_000277.3(PAH):c.970-6T>G rs62507274
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) rs62508573
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) rs62514959
NM_000277.3(PAH):c.981T>G (p.Phe327Leu) rs199475642
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) rs62508580
NM_000277.3(PAH):c.991T>C (p.Phe331Leu) rs62517179
NM_000277.3(PAH):c.992T>G (p.Phe331Cys) rs199475614
NM_000277.3(PAH):c.995G>A (p.Gly332Glu) rs62508589
NM_000278.3(PAX2):c.44_46delCAG
NM_000278.5(PAX2):c.115_120del (p.Gln39_Arg40del) rs74676646
NM_000278.5(PAX2):c.59del (p.Val20fs) rs76803183
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.68del (p.Leu23fs) rs75999420
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter) rs75399846
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.832del (p.Asp278fs) rs78914041
NM_000281.4(PCBD1):c.46del (p.Leu16fs) rs397518414
NM_000285.4(PEPD):c.549-1G>A rs1204749077
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000287.4(PEX6):c.2667-1G>T
NM_000301.5(PLG):c.1801A>C (p.Arg601=)
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1026G>A (p.Lys342=) rs398123314
NM_000314.8(PTEN):c.1027-2A>T rs1085308041
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter) rs1554897262
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-2A>C rs1564566706
NM_000314.8(PTEN):c.635-3C>A rs1085308056
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.801+1G>T rs786204873
NM_000321.3(RB1):c.1215+1G>T rs587776783
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.1814+2T>A rs1131690899
NM_000321.3(RB1):c.2211+5G>T rs1593538236
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000322.5(PRPH2):c.*851_*854del rs281865376
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.198_202delinsAAGACAGA (p.Met67_Gly68delinsArgGlnArg) rs63749073
NM_000322.5(PRPH2):c.199_201del (p.Met67del) rs61755773
NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg) rs61755774
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.303C>T (p.Tyr101=) rs61755776
NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del) rs61755777
NM_000322.5(PRPH2):c.371del (p.Gly124fs) rs61755778
NM_000322.5(PRPH2):c.376C>G (p.Leu126Val) rs61755779
NM_000322.5(PRPH2):c.37C>A (p.Arg13=) rs61754402
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His) rs61755780
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.423_424insTACT (p.Arg142fs) rs61755782
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr) rs61755788
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp) rs61755789
NM_000322.5(PRPH2):c.502AAC[1] (p.Asn169del) rs61755790
NM_000322.5(PRPH2):c.514C>G (p.Arg172Gly) rs61755792
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val) rs61755794
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg) rs61755795
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.551A>C (p.Tyr184Ser) rs62645926
NM_000322.5(PRPH2):c.577_579del (p.Lys193del) rs62645928
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) rs62645929
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.599T>A (p.Val200Glu) rs62645932
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs) rs281865372
NM_000322.5(PRPH2):c.616_627del (p.Val206_Val209del) rs62645934
NM_000322.5(PRPH2):c.623dup (p.Val209fs) rs62641253
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) rs61755802
NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr) rs61755804
NM_000322.5(PRPH2):c.641G>C (p.Cys214Ser) rs61755804
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg) rs61755808
NM_000322.5(PRPH2):c.656_658del (p.Pro219del) rs61755807
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.676C>G (p.Gln226Glu) rs61755811
NM_000322.5(PRPH2):c.700dup (p.Tyr234fs) rs61755812
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.730A>C (p.Asn244His) rs61755815
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys) rs61755816
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys) rs61755816
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000322.5(PRPH2):c.73_74del (p.Trp25fs) rs61755765
NM_000322.5(PRPH2):c.773A>C (p.Tyr258Ser) rs61755818
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.824_825del (p.Leu274_Phe275insTer) rs62645937
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter) rs62645938
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs) rs61748429
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.5(PRPH2):c.914_922del (p.Gly305_Leu308delinsVal) rs281865374
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.933C>T (p.Ser311=) rs137853904
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter) rs121918566
NM_000322.5(PRPH2):c.96dup (p.Ile33fs) rs61755768
NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter) rs281865375
NM_000328.2(RPGR):c.*477_*497dup rs281865320
NM_000328.2(RPGR):c.*624_*635del rs281865321
NM_000328.2(RPGR):c.*638_*649del rs281865322
NM_000328.2(RPGR):c.*874_*875insA rs281865323
NM_000328.3(RPGR):c.*158_*172del rs281865317
NM_000328.3(RPGR):c.*177dup rs281865318
NM_000328.3(RPGR):c.*372_*392dup rs281865319
NM_000328.3(RPGR):c.*76del rs281865315
NM_000328.3(RPGR):c.*94_*114del rs281865316
NM_000328.3(RPGR):c.2055A>G (p.Arg685=) rs281865306
NM_000328.3(RPGR):c.2080A>T (p.Thr694Ser) rs281865307
NM_000328.3(RPGR):c.2226G>A (p.Met742Ile) rs281865308
NM_000328.3(RPGR):c.2259A>T (p.Arg753Ser) rs281865309
NM_000328.3(RPGR):c.2260G>T (p.Val754Phe) rs281865310
NM_000328.3(RPGR):c.2311del (p.Glu771fs) rs281865311
NM_000328.3(RPGR):c.2357_2358del (p.Lys786fs) rs281865312
NM_000328.3(RPGR):c.2357_2375del (p.Lys786fs) rs281865313
NM_000328.3(RPGR):c.2447_*13del (p.Ter816Xaa) rs281865314
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1046_1047insTGG (p.Asn349_Trp350insGly) rs61752910
NM_000329.3(RPE65):c.1053A>G (p.Glu351=) rs62642585
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.106_114del (p.Leu36_Leu38del) rs61751280
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.11+34T>A rs61751275
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys) rs62653012
NM_000329.3(RPE65):c.1120del (p.Ile374fs) rs62653013
NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly) rs62635773
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro) rs62636296
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1304A>G (p.Tyr435Cys) rs62636302
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val) rs62637002
NM_000329.3(RPE65):c.1350G>T (p.Leu450=) rs62637003
NM_000329.3(RPE65):c.1370C>A (p.Thr457Asn) rs62637005
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.138del (p.Pro47fs) rs61752865
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.1451-22C>T rs281865290
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.202C>T (p.His68Tyr) rs61752866
NM_000329.3(RPE65):c.208_209delinsGG (p.Phe70Gly) rs281865287
NM_000329.3(RPE65):c.231C>A (p.Val77=) rs61752868
NM_000329.3(RPE65):c.271_272insA (p.Arg91fs) rs61752872
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln) rs61752874
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) rs62642584
NM_000329.3(RPE65):c.311G>T (p.Gly104Val) rs61752875
NM_000329.3(RPE65):c.353+1G>T rs61752876
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.495+1dup rs281865288
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) rs61752884
NM_000329.3(RPE65):c.570C>T (p.Tyr190=) rs61752885
NM_000329.3(RPE65):c.57_58del (p.Glu20fs) rs62642582
NM_000329.3(RPE65):c.609C>T (p.Ala203=) rs61752886
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.643+1G>C rs61752889
NM_000329.3(RPE65):c.643+5G>A rs61752890
NM_000329.3(RPE65):c.644-1G>T rs61752892
NM_000329.3(RPE65):c.644-2A>T rs61752891
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.644A>G (p.Asp215Gly) rs62646881
NM_000329.3(RPE65):c.725+4A>G rs61752897
NM_000329.3(RPE65):c.778_785del (p.Asn260fs) rs63749059
NM_000329.3(RPE65):c.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.858+4A>G rs61752900
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.894del (p.Lys298fs) rs61752903
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.95G>T (p.Gly32Val) rs61751278
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000330.4(RS1):c.120C>A (p.Cys40Ter) rs62645885
NM_000330.4(RS1):c.160_163dup (p.Thr55fs) rs281865342
NM_000330.4(RS1):c.163del (p.Thr55fs) rs62645886
NM_000330.4(RS1):c.175T>A (p.Cys59Ser) rs62645889
NM_000330.4(RS1):c.184+3118C>G rs139155110
NM_000330.4(RS1):c.184+3199G>C rs36022183
NM_000330.4(RS1):c.185-1G>C rs281865344
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.4(RS1):c.1A>G (p.Met1Val) rs281865332
NM_000330.4(RS1):c.208G>C (p.Gly70Arg) rs62645894
NM_000330.4(RS1):c.209G>A (p.Gly70Asp) rs62645895
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.216G>C (p.Glu72Asp) rs104894932
NM_000330.4(RS1):c.217T>C (p.Ser73Pro) rs62645899
NM_000330.4(RS1):c.219del (p.Glu75fs) rs62645900
NM_000330.4(RS1):c.223G>T (p.Glu75Ter) rs62641252
NM_000330.4(RS1):c.242T>A (p.Ile81Asn) rs61750457
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.262C>T (p.Gln88Ter) rs61750459
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.267T>A (p.Tyr89Ter) rs61752061
NM_000330.4(RS1):c.276G>C (p.Trp92Cys) rs61752062
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.288G>A (p.Trp96Ter) rs61752064
NM_000330.4(RS1):c.293C>A (p.Ala98Glu) rs61752065
NM_000330.4(RS1):c.2T>C (p.Met1Thr) rs281865333
NM_000330.4(RS1):c.301G>C (p.Ala101Pro) rs61752066
NM_000330.4(RS1):c.301del (p.Ala101fs) rs63465862
NM_000330.4(RS1):c.308T>G (p.Leu103Arg) rs61752069
NM_000330.4(RS1):c.312C>G (p.Asn104Lys) rs61752070
NM_000330.4(RS1):c.318dup (p.Gly107fs) rs61752071
NM_000330.4(RS1):c.323T>G (p.Phe108Cys) rs61752072
NM_000330.4(RS1):c.325G>T (p.Gly109Trp) rs104894934
NM_000330.4(RS1):c.326+1G>A rs281865346
NM_000330.4(RS1):c.326G>A (p.Gly109Glu) rs281865345
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr) rs61752075
NM_000330.4(RS1):c.330T>A (p.Cys110Ter) rs1801161
NM_000330.4(RS1):c.336G>C (p.Trp112Cys) rs61752144
NM_000330.4(RS1):c.336G>T (p.Trp112Cys) rs61752144
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.33_36del (p.Leu11fs) rs281865335
NM_000330.4(RS1):c.349_350insT (p.Gln117fs) rs61752146
NM_000330.4(RS1):c.35T>A (p.Leu12His) rs62645879
NM_000330.4(RS1):c.366G>C (p.Trp122Cys) rs61752147
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer) rs61752148
NM_000330.4(RS1):c.380T>C (p.Leu127Pro) rs61752149
NM_000330.4(RS1):c.38T>C (p.Leu13Pro) rs104894935
NM_000330.4(RS1):c.392_393del (p.Lys131fs) rs281865347
NM_000330.4(RS1):c.397A>T (p.Ile133Phe) rs61752151
NM_000330.4(RS1):c.404G>T (p.Gly135Val) rs61752152
NM_000330.4(RS1):c.407T>C (p.Ile136Thr) rs61752153
NM_000330.4(RS1):c.412A>G (p.Thr138Ala) rs61752154
NM_000330.4(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.4(RS1):c.419G>A (p.Gly140Glu) rs61752157
NM_000330.4(RS1):c.421C>G (p.Arg141Gly) rs61752158
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.4(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.426T>C (p.Cys142=) rs1800001
NM_000330.4(RS1):c.426T>G (p.Cys142Trp) rs1800001
NM_000330.4(RS1):c.426_427del (p.Cys142_Asp143delinsTer) rs61753160
NM_000330.4(RS1):c.428A>T (p.Asp143Val) rs61753161
NM_000330.4(RS1):c.436G>A (p.Glu146Lys) rs61753162
NM_000330.4(RS1):c.438G>C (p.Glu146Asp) rs61753163
NM_000330.4(RS1):c.460C>T (p.Gln154Ter) rs61753164
NM_000330.4(RS1):c.464A>G (p.Tyr155Cys) rs61753165
NM_000330.4(RS1):c.472G>A (p.Asp158Asn) rs1800002
NM_000330.4(RS1):c.489G>A (p.Trp163Ter) rs61753166
NM_000330.4(RS1):c.489G>T (p.Trp163Cys) rs61753166
NM_000330.4(RS1):c.499A>T (p.Lys167Ter) rs61753167
NM_000330.4(RS1):c.501G>C (p.Lys167Asn) rs61753168
NM_000330.4(RS1):c.52+1G>A rs281865336
NM_000330.4(RS1):c.52+1G>T rs281865336
NM_000330.4(RS1):c.52+2T>C rs281865334
NM_000330.4(RS1):c.52+2dup rs281865337
NM_000330.4(RS1):c.52+5G>C rs281865338
NM_000330.4(RS1):c.522+1G>A rs281865348
NM_000330.4(RS1):c.522+1G>T rs281865348
NM_000330.4(RS1):c.523-2A>G rs281865349
NM_000330.4(RS1):c.533G>A (p.Gly178Asp) rs61753169
NM_000330.4(RS1):c.535A>G (p.Asn179Asp) rs61753170
NM_000330.4(RS1):c.53_77del (p.Ala18fs) rs281865339
NM_000330.4(RS1):c.548_549dup (p.Ser184fs) rs61753172
NM_000330.4(RS1):c.574C>A (p.Pro192Thr) rs61753174
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.575C>G (p.Pro192Arg) rs61753175
NM_000330.4(RS1):c.576_577insT (p.Pro193fs) rs281865350
NM_000330.4(RS1):c.577C>T (p.Pro193Ser) rs281865351
NM_000330.4(RS1):c.578C>T (p.Pro193Leu) rs281865352
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000330.4(RS1):c.590G>C (p.Arg197Pro) rs281865355
NM_000330.4(RS1):c.596T>C (p.Ile199Thr) rs281865356
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000330.4(RS1):c.599G>A (p.Arg200His) rs281865358
NM_000330.4(RS1):c.606C>T (p.Ile202=) rs1800003
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.618G>A (p.Trp206Ter) rs281865359
NM_000330.4(RS1):c.621C>G (p.His207Gln) rs281865360
NM_000330.4(RS1):c.625C>G (p.Arg209Gly) rs281865361
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.626G>A (p.Arg209His) rs281865362
NM_000330.4(RS1):c.631G>A (p.Ala211Thr) rs281865363
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000330.4(RS1):c.638G>A (p.Arg213Gln) rs281865364
NM_000330.4(RS1):c.639del (p.Met214fs) rs281865366
NM_000330.4(RS1):c.643G>A (p.Glu215Lys) rs281865367
NM_000330.4(RS1):c.643G>C (p.Glu215Gln) rs281865367
NM_000330.4(RS1):c.647T>C (p.Leu216Pro) rs281865368
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000330.4(RS1):c.655del (p.Cys219fs) rs281865370
NM_000330.4(RS1):c.658_*7del (p.Val220fs) rs281865371
NM_000330.4(RS1):c.666G>C (p.Lys222Asn) rs1800004
NM_000330.4(RS1):c.68C>A (p.Ser23Ter) rs62645882
NM_000330.4(RS1):c.76G>T (p.Glu26Ter) rs140983930
NM_000330.4(RS1):c.78+1G>A rs281865341
NM_000330.4(RS1):c.79-2A>G rs281865340
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.1776C>A (p.Asn592Lys) rs199473130
NM_000335.5(SCN5A):c.1787A>G (p.Asp596Gly) rs199473131
NM_000335.5(SCN5A):c.1802T>C (p.Val601Ala) rs199473132
NM_000335.5(SCN5A):c.1913G>A (p.Gly638Asp) rs199473578
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp) rs185638763
NM_000335.5(SCN5A):c.3615G>T (p.Trp1205Cys) rs199473203
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.5698G>A (p.Glu1900Lys) rs199473325
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6014C>T (p.Pro2005Leu) rs199473338
NM_000348.3(SRD5A2):c.-215C>A rs61748131
NM_000348.3(SRD5A2):c.-648A>T rs61748129
NM_000348.3(SRD5A2):c.-650A>C rs61748128
NM_000348.4(SRD5A2):c.-2C>A rs61748132
NM_000348.4(SRD5A2):c.13T>C (p.Cys5Arg) rs61748120
NM_000348.4(SRD5A2):c.143C>G (p.Pro48Arg) rs61748122
NM_000348.4(SRD5A2):c.207C>T (p.Ala69=) rs61750386
NM_000348.4(SRD5A2):c.214C>T (p.Pro72Ser) rs61748124
NM_000348.4(SRD5A2):c.258C>G (p.Leu86=) rs61750389
NM_000348.4(SRD5A2):c.281+23G>T rs61750393
NM_000348.4(SRD5A2):c.281+37A>C rs61750394
NM_000348.4(SRD5A2):c.445+8A>C rs61750395
NM_000348.4(SRD5A2):c.446-43A>T rs61750396
NM_000348.4(SRD5A2):c.550G>C (p.Gly184Arg) rs61750398
NM_000348.4(SRD5A2):c.582C>G (p.Phe194Leu) rs61748126
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) rs61748127
NM_000348.4(SRD5A2):c.89_90insT (p.Ser31fs) rs1553329489
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) rs61750064
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp) rs61748548
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1036A>T (p.Lys346Ter) rs61751422
NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter) rs61751391
NM_000350.3(ABCA4):c.1086T>G (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1100-14T>C rs61753059
NM_000350.3(ABCA4):c.1220C>T (p.Ala407Val) rs61751264
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=) rs61753960
NM_000350.3(ABCA4):c.1268A>C (p.His423Pro) rs3112831
NM_000350.3(ABCA4):c.1272T>C (p.Val424=) rs61748551
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser) rs61752392
NM_000350.3(ABCA4):c.1341del (p.Gln447_Met448insTer) rs61748553
NM_000350.3(ABCA4):c.1344del (p.Met448fs) rs61748554
NM_000350.3(ABCA4):c.1356+10del rs281865386
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+6G>C rs281865387
NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs) rs61748555
NM_000350.3(ABCA4):c.1506_1514del (p.Phe503_Ile505del) rs62645953
NM_000350.3(ABCA4):c.1513_1517del (p.Asn504_Ile505insTer) rs281865398
NM_000350.3(ABCA4):c.1528del (p.Leu510fs) rs62646867
NM_000350.3(ABCA4):c.1554+1G>A rs61752393
NM_000350.3(ABCA4):c.1555-1G>A rs61752394
NM_000350.3(ABCA4):c.1575T>G (p.Phe525Leu) rs62646869
NM_000350.3(ABCA4):c.160+1G>A rs61748523
NM_000350.3(ABCA4):c.161-45G>T rs61753048
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) rs150774447
NM_000350.3(ABCA4):c.1623A>G (p.Leu541=) rs61753962
NM_000350.3(ABCA4):c.1645G>C (p.Ala549Pro) rs61748557
NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu) rs61752396
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) rs61748559
NM_000350.3(ABCA4):c.174C>G (p.Asn58Lys) rs61748524
NM_000350.3(ABCA4):c.1760+22G>T rs61754020
NM_000350.3(ABCA4):c.1760+2T>G rs61751385
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr) rs61751411
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr) rs61752397
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser) rs61749411
NM_000350.3(ABCA4):c.1819G>T (p.Gly607Trp) rs61749412
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu) rs61752398
NM_000350.3(ABCA4):c.1823T>A (p.Phe608Tyr) rs61752399
NM_000350.3(ABCA4):c.1848del (p.Glu616fs) rs61751386
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.1894del (p.Ile632fs) rs61749413
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1908G>T (p.Gln636His) rs61752400
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter) rs61749415
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser) rs61749416
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.1937+2T>C rs61749419
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter) rs61749421
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2057T>C (p.Leu686Ser) rs61752402
NM_000350.3(ABCA4):c.2090G>A (p.Trp697Ter) rs61749424
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter) rs61749425
NM_000350.3(ABCA4):c.2160+1G>C rs61749427
NM_000350.3(ABCA4):c.2292del (p.Ala763_Cys764insTer) rs61752403
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) rs61749429
NM_000350.3(ABCA4):c.2295T>G (p.Ser765Arg) rs61752404
NM_000350.3(ABCA4):c.230T>A (p.Val77Glu) rs61748527
NM_000350.3(ABCA4):c.2337C>A (p.Cys779Ter) rs61749430
NM_000350.3(ABCA4):c.234C>T (p.Asn78=) rs61753049
NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs) rs281865399
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro) rs61749432
NM_000350.3(ABCA4):c.2409_2410del (p.Phe804fs) rs61752405
NM_000350.3(ABCA4):c.247_250del (p.Gln83fs) rs61748528
NM_000350.3(ABCA4):c.249_250insCAAA (p.Ser84fs) rs61751390
NM_000350.3(ABCA4):c.2536G>C (p.Asp846His) rs61754027
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp) rs61749436
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter) rs61749438
NM_000350.3(ABCA4):c.2571del (p.Asp858fs) rs61752407
NM_000350.3(ABCA4):c.2585C>T (p.Pro862Leu) rs61751382
NM_000350.3(ABCA4):c.2587+1G>A rs61749439
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) rs62642560
NM_000350.3(ABCA4):c.2653+60G>C rs61754028
NM_000350.3(ABCA4):c.2654-21A>T rs61754029
NM_000350.3(ABCA4):c.2703A>T (p.Thr901=) rs61749442
NM_000350.3(ABCA4):c.2744-38del rs281865389
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala) rs61749444
NM_000350.3(ABCA4):c.2820C>G (p.Pro940=) rs61749445
NM_000350.3(ABCA4):c.2827C>G (p.Arg943Gly) rs61749446
NM_000350.3(ABCA4):c.2827del (p.Arg943fs) rs281865513
NM_000350.3(ABCA4):c.2860T>G (p.Tyr954Asp) rs61749447
NM_000350.3(ABCA4):c.286A>C (p.Asn96His) rs61748529
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile) rs61752409
NM_000350.3(ABCA4):c.2884del (p.Leu962fs) rs61750203
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.2932G>T (p.Gly978Cys) rs61749452
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp) rs61749453
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter) rs61749455
NM_000350.3(ABCA4):c.2977_2984del (p.Asp993fs) rs281865401
NM_000350.3(ABCA4):c.303-71del rs4147877
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.3057G>T (p.Thr1019=) rs61749458
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3091A>G (p.Lys1031Glu) rs61750060
NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro) rs61752413
NM_000350.3(ABCA4):c.3190+1G>T rs61752414
NM_000350.3(ABCA4):c.3190+83A>T rs61754035
NM_000350.3(ABCA4):c.3191-2A>G rs61752415
NM_000350.3(ABCA4):c.3205_3206dup (p.Leu1070fs) rs61750063
NM_000350.3(ABCA4):c.3216T>C (p.Val1072=) rs61750066
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3278A>G (p.Asp1093Gly) rs61752418
NM_000350.3(ABCA4):c.327dup (p.Gln110fs) rs61748531
NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro) rs61750119
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp) rs61750123
NM_000350.3(ABCA4):c.3393del (p.Ile1132fs) rs61750124
NM_000350.3(ABCA4):c.3439del (p.Phe1146_Leu1147insTer) rs61752420
NM_000350.3(ABCA4):c.3527_3528insTGCA (p.Cys1177fs) rs62645954
NM_000350.3(ABCA4):c.3531C>A (p.Cys1177Ter) rs61750125
NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898
NM_000350.3(ABCA4):c.3607+1G>A rs61752421
NM_000350.3(ABCA4):c.3607+32G>A rs281865390
NM_000350.3(ABCA4):c.3608-16T>A rs61754039
NM_000350.3(ABCA4):c.3696T>G (p.Leu1232=) rs61754040
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) rs61752422
NM_000350.3(ABCA4):c.3749T>C (p.Leu1250Pro) rs61750128
NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter) rs61752423
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.3(ABCA4):c.3819dup (p.Leu1274fs) rs281865514
NM_000350.3(ABCA4):c.3840_3845del (p.1279_1280DS[1]) rs62642572
NM_000350.3(ABCA4):c.3862+1G>A rs61751400
NM_000350.3(ABCA4):c.38_46del (p.Lys13_Trp15del) rs62645956
NM_000350.3(ABCA4):c.4036_4037dup (p.Gly1347fs) rs61751401
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro) rs61752429
NM_000350.3(ABCA4):c.4129-35A>T rs61754042
NM_000350.3(ABCA4):c.4129-71A>T rs61754043
NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro) rs61750131
NM_000350.3(ABCA4):c.4200C>T (p.Tyr1400=) rs61750132
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr) rs61750133
NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu) rs61750134
NM_000350.3(ABCA4):c.4228_4231dup (p.Gly1411fs) rs61750136
NM_000350.3(ABCA4):c.4253+1G>T rs61750139
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-2A>G rs61752431
NM_000350.3(ABCA4):c.4286T>C (p.Val1429Ala) rs61752432
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp) rs61750140
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val) rs61752433
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
NM_000350.3(ABCA4):c.4346G>A (p.Trp1449Ter) rs61750143
NM_000350.3(ABCA4):c.4353-1G>T rs61750144
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.4468T>A (p.Cys1490Ser) rs61750148
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter) rs61750149
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg) rs61750150
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4539+24del rs61754052
NM_000350.3(ABCA4):c.4539+35G>C rs61754049
NM_000350.3(ABCA4):c.4539+3A>G rs61754051
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4549C>A (p.Arg1517Ser) rs1800550
NM_000350.3(ABCA4):c.4574T>C (p.Leu1525Pro) rs61750151
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4710del (p.Ile1571fs) rs281865381
NM_000350.3(ABCA4):c.4714A>T (p.Thr1572Ser) rs62641255
NM_000350.3(ABCA4):c.4773+1G>T rs61751376
NM_000350.3(ABCA4):c.4773+2T>C rs61752437
NM_000350.3(ABCA4):c.4774-2A>C rs61750154
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) rs61752438
NM_000350.3(ABCA4):c.4849-1G>C rs61750156
NM_000350.3(ABCA4):c.4854G>A (p.Trp1618Ter) rs61752439
NM_000350.3(ABCA4):c.4867G>A (p.Gly1623Ser) rs61750157
NM_000350.3(ABCA4):c.4875T>A (p.His1625Gln) rs61752440
NM_000350.3(ABCA4):c.4892T>C (p.Leu1631Pro) rs61750158
NM_000350.3(ABCA4):c.4947del (p.Glu1650fs) rs61750159
NM_000350.3(ABCA4):c.4954T>G (p.Tyr1652Asp) rs61750560
NM_000350.3(ABCA4):c.4956T>G (p.Tyr1652Ter) rs61750561
NM_000350.3(ABCA4):c.5018+2T>A rs61750562
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5107C>G (p.Gln1703Glu) rs61750565
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5196+2T>G rs61751405
NM_000350.3(ABCA4):c.5196+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.5196+3_5196+8del rs61753024
NM_000350.3(ABCA4):c.5212_5222del (p.Ser1738fs) rs281865403
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) rs61750569
NM_000350.3(ABCA4):c.5223_5233del (p.Val1742fs) rs61750570
NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter) rs61753026
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del) rs61753027
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.3(ABCA4):c.5327_5328delinsTG (p.Pro1776Leu) rs281865404
NM_000350.3(ABCA4):c.5337C>A (p.Tyr1779Ter) rs61750573
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp) rs61750574
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro) rs62646875
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5461-36del rs61754661
NM_000350.3(ABCA4):c.5461-50_5461-49insA rs281865393
NM_000350.3(ABCA4):c.5461-50dup rs281865391
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr) rs62642562
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5584+5G>A rs61750576
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5585-10T>C rs61753031
NM_000350.3(ABCA4):c.5585-17T>A rs61754664
NM_000350.3(ABCA4):c.5585-1G>A rs61750634
NM_000350.3(ABCA4):c.5644A>G (p.Met1882Val) rs62642577
NM_000350.3(ABCA4):c.5651T>A (p.Val1884Glu) rs62642578
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys) rs62642563
NM_000350.3(ABCA4):c.5668_5670del (p.Phe1890del) rs61750635
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp) rs61750636
NM_000350.3(ABCA4):c.570G>C (p.Gln190His) rs281865397
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.571-29G>T rs61753052
NM_000350.3(ABCA4):c.571-2A>G rs61748534
NM_000350.3(ABCA4):c.5836-18dup rs281865395
NM_000350.3(ABCA4):c.5836-2del rs61750637
NM_000350.3(ABCA4):c.5836-36TC[3] rs281865396
NM_000350.3(ABCA4):c.5836-40C>A rs281865394
NM_000350.3(ABCA4):c.5886T>C (p.Val1962=) rs62642568
NM_000350.3(ABCA4):c.5888del (p.Arg1963fs) rs62642059
NM_000350.3(ABCA4):c.5898+1G>T rs61750638
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg) rs61753035
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg) rs61753036
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5951_5952inv (p.Met1984Thr)
NM_000350.3(ABCA4):c.5961_5964del (p.Asp1988fs) rs61750640
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6006-698del rs4147902
NM_000350.3(ABCA4):c.6076C>T (p.Leu2026=) rs61748518
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6190G>C (p.Ala2064Pro) rs61753040
NM_000350.3(ABCA4):c.6213C>T (p.Tyr2071=) rs62642580
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly) rs61750645
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6276G>A (p.Val2092=) rs61753042
NM_000350.3(ABCA4):c.6300del (p.Met2101fs) rs61750647
NM_000350.3(ABCA4):c.6320G>C (p.Arg2107Pro) rs62642564
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met) rs61750649
NM_000350.3(ABCA4):c.6352del (p.Arg2118fs) rs61750650
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp) rs61753044
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu) rs61750655
NM_000350.3(ABCA4):c.6479A>G (p.Lys2160Arg) rs281865405
NM_000350.3(ABCA4):c.6498C>G (p.Ile2166Met) rs61751379
NM_000350.3(ABCA4):c.6519_6529del (p.Lys2175fs) rs63749079
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del) rs63749058
NM_000350.3(ABCA4):c.6568del (p.Gln2190fs) rs61751381
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs) rs61751409
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.3(ABCA4):c.664del (p.Ala222fs) rs61748539
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.666_676del (p.Lys223fs) rs63749056
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.667_678del (p.Lys223_Arg226del) rs63749081
NM_000350.3(ABCA4):c.667_680del (p.Lys223fs) rs63749082
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=) rs1801626
NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs) rs62646877
NM_000350.3(ABCA4):c.6708_6709insG (p.Thr2237fs) rs61751260
NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs) rs281865383
NM_000350.3(ABCA4):c.671del (p.Thr224fs) rs61751417
NM_000350.3(ABCA4):c.6729+1G>A rs61751261
NM_000350.3(ABCA4):c.6730-27C>G rs61748522
NM_000350.3(ABCA4):c.6750del (p.Lys2250fs) rs281865406
NM_000350.3(ABCA4):c.6788G>T (p.Arg2263Leu) rs281865407
NM_000350.3(ABCA4):c.6813C>T (p.Ala2271=) rs281865384
NM_000350.3(ABCA4):c.730_731del (p.Leu244fs) rs62645949
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro) rs62646864
NM_000350.3(ABCA4):c.740A>T (p.Asn247Ile) rs62645950
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.763C>G (p.Arg255Gly) rs62645952
NM_000350.3(ABCA4):c.769-1G>T rs61748542
NM_000350.3(ABCA4):c.769-5T>G rs61750201
NM_000350.3(ABCA4):c.832del (p.Ser278fs) rs61748543
NM_000350.3(ABCA4):c.859-11C>T rs61753053
NM_000350.3(ABCA4):c.899C>A (p.Thr300Asn) rs61748544
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) rs61751418
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val) rs61751419
NM_000350.3(ABCA4):c.989G>A (p.Gly330Asp) rs61753058
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_000368.4(TSC1):c.914-88_914-58T(27_30) rs11364856
NM_000368.5(TSC1):c.1263+4C>T rs1554817077
NM_000368.5(TSC1):c.1264-1G>A rs1554816432
NM_000368.5(TSC1):c.508+1G>T rs118203390
NM_000368.5(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000372.4(TYR):c.-683_-682insG rs281865329
NM_000372.4(TYR):c.-692_-691insC rs281865330
NM_000372.4(TYR):c.-802_-801insGAGAGGGAGA rs281865331
NM_000372.5(TYR):c.1015A>G (p.Ser339Gly) rs62645906
NM_000372.5(TYR):c.1018T>C (p.Phe340Leu) rs62645907
NM_000372.5(TYR):c.107G>A (p.Cys36Tyr) rs61753179
NM_000372.5(TYR):c.1081A>C (p.Ser361Arg) rs61754383
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1109T>C (p.Met370Thr) rs61754385
NM_000372.5(TYR):c.1126C>T (p.Gln376Ter) rs61754389
NM_000372.5(TYR):c.1138T>C (p.Ser380Pro) rs61754391
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1161del (p.Leu388fs) rs281865521
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1168C>G (p.His390Asp) rs62645914
NM_000372.5(TYR):c.1183A>G (p.Ser395Gly) rs62645915
NM_000372.5(TYR):c.1211A>C (p.His404Pro) rs62645920
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1292C>T (p.Pro431Leu) rs281865325
NM_000372.5(TYR):c.1314_1317del (p.Phe438fs) rs281865326
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1357C>T (p.Gln453Ter) rs62645924
NM_000372.5(TYR):c.1366+5A>G rs61754397
NM_000372.5(TYR):c.149C>G (p.Ser50Ter) rs61753181
NM_000372.5(TYR):c.155G>T (p.Arg52Ile) rs61753182
NM_000372.5(TYR):c.223del (p.Asp75fs) rs281865523
NM_000372.5(TYR):c.232G>T (p.Glu78Ter) rs61753186
NM_000372.5(TYR):c.240G>A (p.Trp80Ter) rs61753189
NM_000372.5(TYR):c.25del (p.Leu9fs) rs281865524
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.344_345del (p.Arg115fs) rs61753255
NM_000372.5(TYR):c.456C>T (p.Pro152=) rs61753257
NM_000372.5(TYR):c.458dup (p.Gly154fs) rs61753258
NM_000372.5(TYR):c.526T>A (p.Phe176Ile) rs61753259
NM_000372.5(TYR):c.53del (p.Gly18fs) rs61753176
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.57T>A (p.His19Gln) rs61753177
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.649C>G (p.Arg217Gly) rs63159160
NM_000372.5(TYR):c.680_682del (p.Gly227del) rs61754366
NM_000372.5(TYR):c.707G>C (p.Trp236Ser) rs61754367
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.841del (p.Glu281fs) rs281865526
NM_000372.5(TYR):c.891A>G (p.Leu297=) rs61754373
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.934C>G (p.Leu312Val) rs61754377
NM_000372.5(TYR):c.938C>G (p.Pro313Arg) rs61754378
NM_000372.5(TYR):c.973A>G (p.Thr325Ala) rs61754379
NM_000372.5(TYR):c.982G>C (p.Glu328Gln) rs61754380
NM_000373.4(UMPS):c.1408G>T (p.Ala470Ser) rs672601291
NM_000373.4(UMPS):c.983-55C>G rs694897
NM_000383.4(AIRE):c.230T>C (p.Phe77Ser) rs179363887
NM_000383.4(AIRE):c.232T>A (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.238G>T (p.Val80Leu) rs179363881
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.977C>A (p.Pro326Gln) rs179363885
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser) rs1576878027
NM_000389.5(CDKN1A):c.446-3C>G rs763653680
NM_000397.4(CYBB):c.1012C>T (p.His338Tyr) rs151344484
NM_000397.4(CYBB):c.1016C>A (p.Pro339His) rs151344470
NM_000397.4(CYBB):c.1025T>A (p.Leu342Gln) rs151344495
NM_000397.4(CYBB):c.1031C>T (p.Ser344Phe) rs151344485
NM_000397.4(CYBB):c.1067G>C (p.Arg356Pro) rs151344471
NM_000397.4(CYBB):c.1166G>A (p.Gly389Glu) rs137854586
NM_000397.4(CYBB):c.1166G>C (p.Gly389Ala) rs137854586
NM_000397.4(CYBB):c.1214T>G (p.Met405Arg) rs151344472
NM_000397.4(CYBB):c.121T>G (p.Tyr41Asp) rs151344453
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg) rs151344473
NM_000397.4(CYBB):c.1223G>A (p.Gly408Glu) rs151344474
NM_000397.4(CYBB):c.1244C>A (p.Pro415His) rs137854585
NM_000397.4(CYBB):c.1244C>T (p.Pro415Leu) rs137854585
NM_000397.4(CYBB):c.1259T>C (p.Leu420Pro) rs151344486
NM_000397.4(CYBB):c.1264T>C (p.Ser422Pro) rs151344475
NM_000397.4(CYBB):c.1357T>C (p.Trp453Arg) rs151344476
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly) rs137854593
NM_000397.4(CYBB):c.1514T>G (p.Leu505Arg) rs151344490
NM_000397.4(CYBB):c.1546T>C (p.Trp516Arg) rs151344487
NM_000397.4(CYBB):c.1548G>T (p.Trp516Cys) rs151344477
NM_000397.4(CYBB):c.1601T>A (p.Val534Asp) rs151344478
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg) rs151344454
NM_000397.4(CYBB):c.161G>T (p.Arg54Met) rs151344479
NM_000397.4(CYBB):c.162G>C (p.Arg54Ser) rs151344456
NM_000397.4(CYBB):c.1637T>C (p.Leu546Pro) rs151344492
NM_000397.4(CYBB):c.164C>A (p.Ala55Asp) rs151344480
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu) rs151344481
NM_000397.4(CYBB):c.175T>C (p.Cys59Arg) rs151344457
NM_000397.4(CYBB):c.177C>G (p.Cys59Trp) rs151344488
NM_000397.4(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000397.4(CYBB):c.302A>G (p.His101Arg) rs137854591
NM_000397.4(CYBB):c.356A>G (p.His119Arg) rs151344458
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr) rs137854590
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.535G>A (p.Gly179Arg) rs151344491
NM_000397.4(CYBB):c.578C>T (p.Ser193Phe) rs151344493
NM_000397.4(CYBB):c.58G>C (p.Gly20Arg) rs151344455
NM_000397.4(CYBB):c.613T>A (p.Phe205Ile) rs151344496
NM_000397.4(CYBB):c.625C>T (p.His209Tyr) rs137854587
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.627T>A (p.His209Gln) rs151344459
NM_000397.4(CYBB):c.664C>A (p.His222Asn) rs151344460
NM_000397.4(CYBB):c.664C>T (p.His222Tyr) rs151344460
NM_000397.4(CYBB):c.665A>G (p.His222Arg) rs151344462
NM_000397.4(CYBB):c.667G>T (p.Gly223Ter) rs151344463
NM_000397.4(CYBB):c.668G>T (p.Gly223Val) rs151344464
NM_000397.4(CYBB):c.671C>G (p.Ala224Gly) rs151344483
NM_000397.4(CYBB):c.674A>T (p.Glu225Val) rs151344494
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_000397.4(CYBB):c.730T>C (p.Cys244Arg) rs151344465
NM_000397.4(CYBB):c.731G>A (p.Cys244Tyr) rs137854589
NM_000397.4(CYBB):c.731G>C (p.Cys244Ser) rs137854589
NM_000397.4(CYBB):c.907C>A (p.His303Asn) rs137854595
NM_000397.4(CYBB):c.911C>G (p.Pro304Arg) rs137854596
NM_000397.4(CYBB):c.919A>C (p.Thr307Pro) rs151344489
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu) rs151344467
NM_000397.4(CYBB):c.973A>T (p.Ile325Phe) rs151344468
NM_000397.4(CYBB):c.997T>C (p.Ser333Pro) rs151344469
NM_000416.3(IFNGR1):c.*313del rs121913190
NM_000416.3(IFNGR1):c.1204_1230dup (p.Cys402_Asn410dup) rs137854905
NM_000416.3(IFNGR1):c.1268G>A (p.Ser423Asn) rs121913188
NM_000416.3(IFNGR1):c.373+305dup rs121913176
NM_000416.3(IFNGR1):c.5C>T (p.Ala2Val) rs121913172
NM_000416.3(IFNGR1):c.734-343C>A rs121913181
NM_000416.3(IFNGR1):c.85+10T>C rs7749390
NM_000416.3(IFNGR1):c.861+42T>G rs121913183
NM_000421.5(KRT10):c.1155+5G>A rs267607381
NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu) rs59075499
NM_000421.5(KRT10):c.1281_1282delinsAA (p.Cys427_Gln428delinsTer) rs267607377
NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter) rs60035576
NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs) rs267607379
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu) rs61434181
NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln) rs58026994
NM_000421.5(KRT10):c.1333G>A (p.Glu445Lys) rs267607380
NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr) rs62651994
NM_000421.5(KRT10):c.1340A>C (p.Gln447Pro) rs267607378
NM_000421.5(KRT10):c.1346A>G (p.Tyr449Cys) rs267607383
NM_000421.5(KRT10):c.1355T>C (p.Leu452Pro) rs62651995
NM_000421.5(KRT10):c.1358T>C (p.Leu453Pro) rs62652043
NM_000421.5(KRT10):c.1450_1451insC (p.Gly484fs) rs267607382
NM_000421.5(KRT10):c.1546_1551delinsT (p.Gly516fs) rs267607385
NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs) rs267607384
NM_000421.5(KRT10):c.449T>C (p.Met150Thr) rs58901407
NM_000421.5(KRT10):c.449T>G (p.Met150Arg) rs58901407
NM_000421.5(KRT10):c.457C>G (p.Leu153Val) rs61460100
NM_000421.5(KRT10):c.460A>C (p.Asn154His) rs57784225
NM_000421.5(KRT10):c.465_466delinsAA (p.Asp155_Arg156delinsGluSer) rs60712939
NM_000421.5(KRT10):c.466C>A (p.Arg156Ser) rs58852768
NM_000421.5(KRT10):c.466C>G (p.Arg156Gly) rs58852768
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000421.5(KRT10):c.467G>A (p.Arg156His) rs58075662
NM_000421.5(KRT10):c.467G>C (p.Arg156Pro) rs58075662
NM_000421.5(KRT10):c.467G>T (p.Arg156Leu) rs58075662
NM_000421.5(KRT10):c.472G>C (p.Ala158Pro) rs59175042
NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp) rs58414354
NM_000421.5(KRT10):c.479A>C (p.Tyr160Ser) rs58735429
NM_000421.5(KRT10):c.481_486del (p.Leu161_Asp162del) rs56809156
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser) rs60118264
NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro) rs267607413
NM_000422.3(KRT17):c.1163T>C (p.Leu388Pro) rs56690581
NM_000422.3(KRT17):c.263T>A (p.Met88Lys) rs28928898
NM_000422.3(KRT17):c.263T>C (p.Met88Thr) rs28928898
NM_000422.3(KRT17):c.274A>C (p.Asn92His) rs28928896
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) rs28928896
NM_000422.3(KRT17):c.274_297del (p.Asn92_Leu99del) rs267607414
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) rs28928897
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) rs57674130
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) rs28928899
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) rs28928899
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del) rs121912478
NM_000422.3(KRT17):c.287_298del (p.Ala96_Leu99del) rs267607416
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) rs28933088
NM_000422.3(KRT17):c.295_303del (p.Leu99_Lys101del) rs267607415
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) rs28933089
NM_000422.3(KRT17):c.304G>A (p.Val102Met) rs59977263
NM_000422.3(KRT17):c.309T>C (p.Arg103=) rs57436765
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) rs56829062
NM_000423.3(KRT2):c.1427A>T (p.Glu476Val) rs60537449
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro) rs137852630
NM_000423.3(KRT2):c.1448T>A (p.Leu483Gln) rs61726456
NM_000423.3(KRT2):c.1451T>C (p.Leu484Pro) rs61726451
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) rs137852629
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) rs137852628
NM_000423.3(KRT2):c.1462G>A (p.Glu488Lys) rs61726452
NM_000423.3(KRT2):c.532G>A (p.Glu178Lys) rs57728941
NM_000423.3(KRT2):c.542A>T (p.Gln181Leu) rs57510142
NM_000423.3(KRT2):c.545T>A (p.Ile182Asn) rs61622714
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr) rs137852631
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) rs137852632
NM_000423.3(KRT2):c.607A>G (p.Asn203Asp) rs61726455
NM_000424.4(KRT5):c.1054C>A (p.Arg352Ser) rs59112594
NM_000424.4(KRT5):c.10C>T (p.Gln4Ter) rs267607455
NM_000424.4(KRT5):c.1159T>A (p.Ser387Thr) rs2669875
NM_000424.4(KRT5):c.1210A>G (p.Lys404Glu) rs60809982
NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) rs267607458
NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) rs59243757
NM_000424.4(KRT5):c.1285_1299del (p.Arg429_Ala433del) rs267607434
NM_000424.4(KRT5):c.1313C>A (p.Ala438Asp) rs57845028
NM_000424.4(KRT5):c.1329G>C (p.Lys443Asn) rs267607453
NM_000424.4(KRT5):c.1362_1365delinsAGCTGGTA (p.Glu455fs) rs267607447
NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) rs57599352
NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) rs62642056
NM_000424.4(KRT5):c.1399A>C (p.Ile467Leu) rs58288198
NM_000424.4(KRT5):c.1400T>C (p.Ile467Thr) rs60271599
NM_000424.4(KRT5):c.1401C>G (p.Ile467Met) rs60062350
NM_000424.4(KRT5):c.1405A>C (p.Thr469Pro) rs60596287
NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys) rs267607448
NM_000424.4(KRT5):c.1414A>T (p.Lys472Ter) rs57348201
NM_000424.4(KRT5):c.1423G>A (p.Glu475Lys) rs57155193
NM_000424.4(KRT5):c.1424A>G (p.Glu475Gly) rs61348633
NM_000424.4(KRT5):c.1427G>A (p.Gly476Asp) rs56922686
NM_000424.4(KRT5):c.1427G>C (p.Gly476Ala) rs56922686
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) rs59190510
NM_000424.4(KRT5):c.1429G>T (p.Glu477Ter) rs59190510
NM_000424.4(KRT5):c.1430A>G (p.Glu477Gly) rs58319159
NM_000424.4(KRT5):c.1432G>A (p.Glu478Lys) rs267607438
NM_000424.4(KRT5):c.1437del (p.Glu478_Cys479insTer) rs267607440
NM_000424.4(KRT5):c.1438A>G (p.Arg480Gly) rs267607446
NM_000424.4(KRT5):c.1474+4A>G rs267607454
NM_000424.4(KRT5):c.14C>A (p.Ser5Ter) rs58751565
NM_000424.4(KRT5):c.1550G>A (p.Gly517Asp) rs58608695
NM_000424.4(KRT5):c.1635del (p.Leu546fs) rs57187183
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.1692C>A (p.Gly564=) rs267607659
NM_000424.4(KRT5):c.1730T>A (p.Phe577Tyr) rs267607442
NM_000424.4(KRT5):c.1755G>A (p.Arg585=) rs267607660
NM_000424.4(KRT5):c.237T>A (p.Ser79Arg) rs1065115
NM_000424.4(KRT5):c.240T>A (p.Gly80=) rs1065116
NM_000424.4(KRT5):c.2T>C (p.Met1Thr) rs267607444
NM_000424.4(KRT5):c.382G>C (p.Gly128Arg) rs267607657
NM_000424.4(KRT5):c.418dup (p.Ile140fs) rs61348424
NM_000424.4(KRT5):c.427G>T (p.Val143Phe) rs267607439
NM_000424.4(KRT5):c.428T>A (p.Val143Asp) rs59851104
NM_000424.4(KRT5):c.428T>C (p.Val143Ala) rs59851104
NM_000424.4(KRT5):c.442_443del (p.Leu149fs) rs57739872
NM_000424.4(KRT5):c.446T>C (p.Leu149Pro) rs267607449
NM_000424.4(KRT5):c.449T>C (p.Leu150Pro) rs62635291
NM_000424.4(KRT5):c.451A>C (p.Thr151Pro) rs267607450
NM_000424.4(KRT5):c.455C>T (p.Pro152Leu) rs60617604
NM_000424.4(KRT5):c.473A>T (p.Asp158Val) rs61222761
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser) rs58058996
NM_000424.4(KRT5):c.489G>T (p.Arg163Ser) rs267607436
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) rs267607456
NM_000424.4(KRT5):c.502G>A (p.Glu168Lys) rs58619430
NM_000424.4(KRT5):c.506G>C (p.Arg169Pro) rs60720877
NM_000424.4(KRT5):c.509A>G (p.Glu170Gly) rs57408864
NM_000424.4(KRT5):c.513G>A (p.Gln171=) rs267607658
NM_000424.4(KRT5):c.514A>G (p.Ile172Val) rs267607445
NM_000424.4(KRT5):c.519G>C (p.Lys173Asn) rs58163069
NM_000424.4(KRT5):c.523C>T (p.Leu175Phe) rs57890479
NM_000424.4(KRT5):c.527A>G (p.Asn176Ser) rs59092197
NM_000424.4(KRT5):c.530A>G (p.Asn177Ser) rs61495052
NM_000424.4(KRT5):c.531_533del (p.Asn177del) rs267607441
NM_000424.4(KRT5):c.536T>C (p.Phe179Ser) rs57781042
NM_000424.4(KRT5):c.538G>C (p.Ala180Pro) rs267607451
NM_000424.4(KRT5):c.539C>A (p.Ala180Asp) rs58480900
NM_000424.4(KRT5):c.541T>C (p.Ser181Pro) rs60715293
NM_000424.4(KRT5):c.547A>G (p.Ile183Val) rs58577926
NM_000424.4(KRT5):c.547A>T (p.Ile183Phe) rs58577926
NM_000424.4(KRT5):c.547_549del (p.Ile183del) rs61726460
NM_000424.4(KRT5):c.548T>C (p.Ile183Thr) rs267607661
NM_000424.4(KRT5):c.549C>G (p.Ile183Met) rs267607443
NM_000424.4(KRT5):c.556-1G>C rs267607433
NM_000424.4(KRT5):c.556-1G>T rs267607433
NM_000424.4(KRT5):c.556G>A (p.Val186Met) rs121912475
NM_000424.4(KRT5):c.556G>T (p.Val186Leu) rs121912475
NM_000424.4(KRT5):c.557T>A (p.Val186Glu) rs267607457
NM_000424.4(KRT5):c.560G>C (p.Arg187Pro) rs267607452
NM_000424.4(KRT5):c.568G>A (p.Glu190Lys) rs58976397
NM_000424.4(KRT5):c.570G>C (p.Glu190Asp) rs267607437
NM_000424.4(KRT5):c.572A>C (p.Gln191Pro) rs57751134
NM_000424.4(KRT5):c.579C>A (p.Asn193Lys) rs60586163
NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) rs60586163
NM_000424.4(KRT5):c.579C>T (p.Asn193=) rs60586163
NM_000424.4(KRT5):c.593C>G (p.Thr198Ser) rs267607435
NM_000424.4(KRT5):c.594C>T (p.Thr198=) rs641621
NM_000424.4(KRT5):c.596A>C (p.Lys199Thr) rs58766676
NM_000424.4(KRT5):c.596A>G (p.Lys199Arg) rs58766676
NM_000424.4(KRT5):c.596A>T (p.Lys199Met) rs58766676
NM_000424.4(KRT5):c.732G>A (p.Leu244=) rs1132948
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.794G>C (p.Arg265Pro) rs201583229
NM_000424.4(KRT5):c.932T>G (p.Leu311Arg) rs59864957
NM_000424.4(KRT5):c.968T>C (p.Val323Ala) rs59840738
NM_000424.4(KRT5):c.971T>A (p.Val324Asp) rs59335325
NM_000424.4(KRT5):c.971T>C (p.Val324Ala) rs59335325
NM_000424.4(KRT5):c.974T>C (p.Leu325Pro) rs58107458
NM_000424.4(KRT5):c.980T>A (p.Met327Lys) rs58072617
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000424.4(KRT5):c.982G>C (p.Asp328His) rs56790237
NM_000424.4(KRT5):c.983A>G (p.Asp328Gly) rs57142010
NM_000424.4(KRT5):c.983A>T (p.Asp328Val) rs57142010
NM_000424.4(KRT5):c.984C>A (p.Asp328Glu) rs59464425
NM_000424.4(KRT5):c.986A>G (p.Asn329Ser) rs59184265
NM_000424.4(KRT5):c.987C>A (p.Asn329Lys) rs59730172
NM_000424.4(KRT5):c.991C>G (p.Arg331Gly) rs61297109
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys) rs61297109
NM_000424.4(KRT5):c.992G>A (p.Arg331His) rs56729325
NM_000432.4(MYL2):c.135C>T (p.Asp45=) rs199474807
NM_000432.4(MYL2):c.274+1G>C rs199474810
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu) rs199474811
NM_000432.4(MYL2):c.353+20del rs3833910
NM_000432.4(MYL2):c.353+46dup rs142220381
NM_000432.4(MYL2):c.353+51C>T rs2233260
NM_000432.4(MYL2):c.354-2A>G rs199474812
NM_000432.4(MYL2):c.4-13T>C rs199474806
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.497A>T (p.Asp166Val) rs199474815
NM_000432.4(MYL2):c.58A>C (p.Met20Leu) rs199474816
NM_000433.4(NCF2):c.983G>A (p.Arg328Lys) rs137854511
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.6016A>T (p.Arg2006Trp) rs375674115
NM_000441.2(SLC26A4):c.1223C>T (p.Ser408Phe) rs1584325160
NM_000442.5(PECAM1):c.373G>C (p.Val125Leu) rs281865545
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000446.7(PON1):c.325G>T (p.Val109Leu) rs61736513
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) rs28936380
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000448.3(RAG1):c.1187G>T (p.Arg396Leu) rs104894291
NM_000448.3(RAG1):c.1201T>C (p.Ser401Pro) rs199474682
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile) rs199474690
NM_000448.3(RAG1):c.2654T>G (p.Leu885Arg) rs199474691
NM_000448.3(RAG1):c.730A>G (p.Arg244Gly) rs199474683
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly) rs368466538
NM_000455.5(STK11):c.291-1G>T rs112675807
NM_000455.5(STK11):c.735-1G>T rs1057517830
NM_000455.5(STK11):c.863-2A>T rs1131690944
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2030A>G (p.His677Arg) rs63749953
NM_000484.4(APP):c.2032G>A (p.Asp678Asn) rs63750064
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2077G>A (p.Glu693Lys) rs63750579
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2113C>G (p.Leu705Val) rs63750921
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000484.4(APP):c.2141C>T (p.Thr714Ile) rs63750973
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2144T>C (p.Val715Ala) rs63750868
NM_000484.4(APP):c.2145G>A (p.Val715=) rs63750627
NM_000484.4(APP):c.2146A>G (p.Ile716Val) rs63750399
NM_000484.4(APP):c.2147T>C (p.Ile716Thr) rs63750851
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly) rs63749964
NM_000484.4(APP):c.2168T>C (p.Leu723Pro) rs63751122
NM_000484.4(APP):c.2172G>C (p.Lys724Asn) rs63750151
NM_000486.6(AQP2):c.647C>T (p.Ser216Phe) rs199422215
NM_000487.6(ARSA):c.100G>A (p.Gly34Ser) rs199476350
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) rs199476344
NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu) rs6151425
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) rs199476361
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1412C>G (p.Ala471Gly) rs199476385
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) rs199476357
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.233T>C (p.Leu78Pro) rs199476362
NM_000487.6(ARSA):c.286C>G (p.Pro96Ala) rs199476353
NM_000487.6(ARSA):c.290G>A (p.Ser97Asn) rs199476363
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) rs199476371
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.361G>A (p.Gly121Arg) rs199476364
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465G>C (p.Gln155His) rs199476377
NM_000487.6(ARSA):c.472T>C (p.Cys158Arg) rs199476348
NM_000487.6(ARSA):c.521G>A (p.Cys174Tyr) rs199476381
NM_000487.6(ARSA):c.548T>A (p.Leu183Gln) rs199476378
NM_000487.6(ARSA):c.576G>C (p.Gln192His) rs199476372
NM_000487.6(ARSA):c.59C>A (p.Ala20Asp) rs199476339
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.661T>G (p.Phe221Val) rs199476383
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) rs199476367
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.91G>A (p.Asp31Asn) rs199476346
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) rs199476356
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.94G>C (p.Asp32His) rs199476340
NM_000488.4(SERPINC1):c.881G>T (p.Arg294Leu) rs587776397
NM_000489.6(ATRX):c.4317+1G>A rs2148449882
NM_000489.6(ATRX):c.4557+2T>G rs2148435131
NM_000489.6(ATRX):c.4700-1G>C rs2148351116
NM_000489.6(ATRX):c.4809+2T>G rs2148349096
NM_000489.6(ATRX):c.663-2A>G rs2148640625
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000518.5(HBB):c.415_417del (p.Ala139del) rs34359964
NM_000518.5(HBB):c.435G>T (p.Lys145Asn) rs35020585
NM_000520.6(HEXA):c.1073+3G>C
NM_000520.6(HEXA):c.1421+5G>T
NM_000520.6(HEXA):c.412+1G>T rs2140328162
NM_000526.5(KRT14):c.1117_1158dup (p.Ile373_Gln386dup) rs267607401
NM_000526.5(KRT14):c.1123_1125del (p.Glu375del) rs56974573
NM_000526.5(KRT14):c.1130T>A (p.Ile377Asn) rs61536893
NM_000526.5(KRT14):c.1141G>A (p.Glu381Lys) rs267607399
NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro) rs59629244
NM_000526.5(KRT14):c.1162C>G (p.Arg388Gly) rs59966597
NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys) rs59966597
NM_000526.5(KRT14):c.1163G>C (p.Arg388Pro) rs58645163
NM_000526.5(KRT14):c.1174G>T (p.Glu392Ter) rs267607395
NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter) rs58393329
NM_000526.5(KRT14):c.1202T>C (p.Leu401Pro) rs267607394
NM_000526.5(KRT14):c.1218del (p.Arg407fs) rs58397858
NM_000526.5(KRT14):c.1222C>A (p.Leu408Met) rs57200223
NM_000526.5(KRT14):c.1228C>T (p.Gln410Ter) rs267607400
NM_000526.5(KRT14):c.1231G>A (p.Glu411Lys) rs61664582
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter) rs61664582
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) rs267607389
NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe) rs267607403
NM_000526.5(KRT14):c.1235T>A (p.Ile412Asn) rs267607393
NM_000526.5(KRT14):c.1237G>C (p.Ala413Pro) rs59780231
NM_000526.5(KRT14):c.1240_1249del (p.Thr414fs) rs267607404
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His) rs58380626
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) rs59442925
NM_000526.5(KRT14):c.1246del (p.Arg416fs) rs58357841
NM_000526.5(KRT14):c.1247G>C (p.Arg416Pro) rs60622724
NM_000526.5(KRT14):c.1250G>C (p.Arg417Pro) rs61085704
NM_000526.5(KRT14):c.1252C>G (p.Leu418Val) rs59440884
NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln) rs57364972
NM_000526.5(KRT14):c.129dup (p.Ser44fs) rs59829117
NM_000526.5(KRT14):c.17del (p.Arg6fs) rs267607390
NM_000526.5(KRT14):c.242dup (p.Gly81_Ser82insTer) rs59799857
NM_000526.5(KRT14):c.313_314del (p.Ala105fs) rs57278315
NM_000526.5(KRT14):c.346A>G (p.Lys116Glu) rs60338701
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) rs60338701
NM_000526.5(KRT14):c.348G>C (p.Lys116Asn) rs59271739
NM_000526.5(KRT14):c.355A>G (p.Met119Val) rs61263401
NM_000526.5(KRT14):c.356T>C (p.Met119Thr) rs28928893
NM_000526.5(KRT14):c.357G>A (p.Met119Ile) rs57358989
NM_000526.5(KRT14):c.359A>C (p.Gln120Pro) rs60993843
NM_000526.5(KRT14):c.359A>G (p.Gln120Arg) rs60993843
NM_000526.5(KRT14):c.364C>T (p.Leu122Phe) rs59110575
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser) rs60171927
NM_000526.5(KRT14):c.369T>A (p.Asn123Lys) rs3826549
NM_000526.5(KRT14):c.373C>G (p.Arg125Gly) rs60399023
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.374G>A (p.Arg125His) rs58330629
NM_000526.5(KRT14):c.374G>C (p.Arg125Pro) rs58330629
NM_000526.5(KRT14):c.374G>T (p.Arg125Leu) rs58330629
NM_000526.5(KRT14):c.380CCT[1] (p.Ser128del) rs61221088
NM_000526.5(KRT14):c.382T>C (p.Ser128Pro) rs267607396
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) rs60470268
NM_000526.5(KRT14):c.386A>G (p.Tyr129Cys) rs60352920
NM_000526.5(KRT14):c.389T>C (p.Leu130Pro) rs57522245
NM_000526.5(KRT14):c.397G>A (p.Val133Met) rs61027685
NM_000526.5(KRT14):c.397G>C (p.Val133Leu) rs61027685
NM_000526.5(KRT14):c.397G>T (p.Val133Leu) rs61027685
NM_000526.5(KRT14):c.398T>C (p.Val133Ala) rs1555603282
NM_000526.5(KRT14):c.399G>T (p.Val133=) rs61545959
NM_000526.5(KRT14):c.401G>C (p.Arg134Pro) rs61540016
NM_000526.5(KRT14):c.407T>A (p.Leu136Gln) rs267607392
NM_000526.5(KRT14):c.407T>C (p.Leu136Pro) rs267607392
NM_000526.5(KRT14):c.419A>G (p.Asn140Ser) rs267607397
NM_000526.5(KRT14):c.427del (p.Leu143fs) rs57180772
NM_000526.5(KRT14):c.428T>C (p.Leu143Pro) rs61326242
NM_000526.5(KRT14):c.431A>C (p.Glu144Ala) rs57121345
NM_000526.5(KRT14):c.442C>T (p.Arg148Cys) rs58378809
NM_000526.5(KRT14):c.528T>G (p.Ile176Met) rs61765950
NM_000526.5(KRT14):c.529_534del (p.Leu177_Thr178del) rs62652044
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) rs60831116
NM_000526.5(KRT14):c.556G>A (p.Val186Ile) rs267607651
NM_000526.5(KRT14):c.632G>C (p.Arg211Pro) rs60589227
NM_000526.5(KRT14):c.744delinsAG (p.Tyr248Ter) rs60779206
NM_000526.5(KRT14):c.749del (p.Lys250fs) rs267607406
NM_000526.5(KRT14):c.803T>A (p.Val268Asp) rs267607398
NM_000526.5(KRT14):c.808G>A (p.Val270Met) rs58560979
NM_000526.5(KRT14):c.815T>C (p.Met272Thr) rs61371557
NM_000526.5(KRT14):c.815T>G (p.Met272Arg) rs61371557
NM_000526.5(KRT14):c.818A>G (p.Asp273Gly) rs59375065
NM_000526.5(KRT14):c.821C>A (p.Ala274Asp) rs58785777
NM_000526.5(KRT14):c.915G>A (p.Trp305Ter) rs60090257
NM_000526.5(KRT14):c.927+1G>A rs113582618
NM_000526.5(KRT14):c.927+1G>T rs113582618
NM_000526.5(KRT14):c.955A>C (p.Thr319Pro) rs267607405
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1336C>G (p.Leu446Val) rs375651668
NM_000527.5(LDLR):c.143G>A (p.Gly48Asp) rs730882077
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1547G>A (p.Gly516Asp) rs730882104
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1747C>G (p.His583Asp) rs730882109
NM_000527.5(LDLR):c.1765G>C (p.Asp589His) rs201971888
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2116A>G (p.Arg706Gly) rs730882112
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2356A>G (p.Ser786Gly) rs730882114
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.410G>T (p.Gly137Val) rs730882083
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.545A>G (p.Gln182Arg) rs730882084
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.770_771delinsAC (p.Arg257His) rs730882087
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.827G>C (p.Cys276Ser) rs730882089
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000540.3(RYR1):c.10086C>T (p.Ile3362=) rs193922835
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg) rs118192126
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe) rs193922836
NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser) rs118192164
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro) rs118192127
NM_000540.3(RYR1):c.10938-86A>G rs6508806
NM_000540.3(RYR1):c.11120G>T (p.Arg3707Leu) rs193922838
NM_000540.3(RYR1):c.1116G>A (p.Lys372=) rs193922763
NM_000540.3(RYR1):c.1122+44C>T rs8101724
NM_000540.3(RYR1):c.1122+95T>C rs8102524
NM_000540.3(RYR1):c.11590+13C>T rs12979769
NM_000540.3(RYR1):c.11590+43C>T rs12979784
NM_000540.3(RYR1):c.11748T>G (p.Ile3916Met) rs193922840
NM_000540.3(RYR1):c.11778G>A (p.Gln3926=) rs193922841
NM_000540.3(RYR1):c.11953T>C (p.Trp3985Arg) rs118204422
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val) rs193922843
NM_000540.3(RYR1):c.1201C>G (p.Arg401Gly) rs193922764
NM_000540.3(RYR1):c.1202G>A (p.Arg401His) rs193922766
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr) rs193922844
NM_000540.3(RYR1):c.12241A>T (p.Thr4081Ser) rs193922845
NM_000540.3(RYR1):c.12413T>C (p.Ile4138Thr) rs193922850
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del) rs118192165
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu) rs193922852
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu) rs118192118
NM_000540.3(RYR1):c.1280_1281dup (p.Gly428fs) rs193922851
NM_000540.3(RYR1):c.12848A>T (p.Glu4283Val) rs193922853
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp) rs118192129
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13470G>A (p.Glu4490=) rs193922858
NM_000540.3(RYR1):c.13509A>G (p.Lys4503=) rs193922859
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro) rs118192131
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn) rs118192132
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13941_13946del (p.Ser4648_Leu4649del) rs193922861
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.3(RYR1):c.13994_13995delinsCT (p.Leu4665Pro) rs193922862
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.14197T>G (p.Tyr4733Asp) rs193922865
NM_000540.3(RYR1):c.14201G>A (p.Gly4734Glu) rs193922866
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14228G>A (p.Gly4743Asp) rs193922869
NM_000540.3(RYR1):c.1422G>T (p.Gln474His) rs193922767
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.3(RYR1):c.14365-2A>T rs193922870
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.1440+74G>A rs12460768
NM_000540.3(RYR1):c.14410C>T (p.His4804Tyr) rs193922871
NM_000540.3(RYR1):c.14422T>A (p.Phe4808Ile) rs193922872
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe) rs118192142
NM_000540.3(RYR1):c.14449A>T (p.Ile4817Phe) rs143988412
NM_000540.3(RYR1):c.14458G>T (p.Gly4820Trp) rs193922873
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys) rs118192180
NM_000540.3(RYR1):c.14474G>C (p.Arg4825Pro) rs193922875
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
NM_000540.3(RYR1):c.14510del (p.Gln4837fs) rs193922877
NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val) rs193922878
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14567C>G (p.Ala4856Gly) rs193922880
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp) rs118192144
NM_000540.3(RYR1):c.14575TTC[1] (p.Phe4860del) rs118192145
NM_000540.3(RYR1):c.14578T>G (p.Phe4860Val) rs193922881
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14588_14605del (p.Phe4863_Asp4869delinsTyr) rs193922882
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys) rs118192146
NM_000540.3(RYR1):c.14627A>G (p.Lys4876Arg) rs113210953
NM_000540.3(RYR1):c.14639T>C (p.Met4880Thr) rs193922883
NM_000540.3(RYR1):c.14647-1876C>T rs193922885
NM_000540.3(RYR1):c.14647-60C>T rs7507518
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.3(RYR1):c.14667C>G (p.Tyr4889Ter) rs193922887
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg) rs118192149
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro) rs118192151
NM_000540.3(RYR1):c.14680G>A (p.Ala4894Thr) rs193922888
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_000540.3(RYR1):c.14681C>T (p.Ala4894Val) rs193922890
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val) rs118192148
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14695G>A (p.Gly4899Arg) rs193922891
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu) rs118192183
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn) rs118192155
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr) rs118192171
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14779G>T (p.Val4927Phe) rs193922892
NM_000540.3(RYR1):c.14804-1G>T rs193922894
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.3(RYR1):c.14817C>A (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.14825G>T (p.Gly4942Val) rs193922896
NM_000540.3(RYR1):c.14869-1G>C rs193922897
NM_000540.3(RYR1):c.14879T>A (p.Phe4960Tyr) rs193922898
NM_000540.3(RYR1):c.14892C>A (p.Ile4964=) rs2302297
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys) rs118192119
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys) rs118192162
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu) rs193922769
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.1672+29G>C rs2288889
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs) rs193922771
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.1878T>G (p.Pro626=) rs193922773
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2537C>T (p.Ser846Leu) rs193922775
NM_000540.3(RYR1):c.2943G>C (p.Thr981=) rs2228069
NM_000540.3(RYR1):c.35_37delinsCG (p.Phe12fs) rs193922743
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.463C>A (p.Gln155Lys) rs193922750
NM_000540.3(RYR1):c.467G>A (p.Arg156Lys) rs193922751
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly) rs193922752
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.488G>T (p.Arg163Leu) rs193922753
NM_000540.3(RYR1):c.493G>A (p.Gly165Arg) rs193922754
NM_000540.3(RYR1):c.496G>A (p.Asp166Asn) rs193922755
NM_000540.3(RYR1):c.497A>G (p.Asp166Gly) rs193922756
NM_000540.3(RYR1):c.5110G>A (p.Gly1704Ser) rs193922779
NM_000540.3(RYR1):c.5182T>C (p.Ser1728Pro) rs193922780
NM_000540.3(RYR1):c.5186T>G (p.Met1729Arg) rs193922782
NM_000540.3(RYR1):c.51_53del (p.Asp17del) rs193922745
NM_000540.3(RYR1):c.533A>T (p.Tyr178Phe) rs193922758
NM_000540.3(RYR1):c.5441T>A (p.Met1814Lys) rs193922783
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala) rs193922784
NM_000540.3(RYR1):c.5619G>A (p.Glu1873=) rs193922785
NM_000540.3(RYR1):c.5938del (p.Leu1980fs) rs193922786
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000540.3(RYR1):c.6274+55C>T rs11665970
NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu) rs193922788
NM_000540.3(RYR1):c.6387C>G (p.Asp2129Glu) rs117886618
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu) rs118192115
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.6544A>T (p.Ile2182Phe) rs193922790
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.6617C>G (p.Thr2206Arg) rs118192177
NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe) rs193922792
NM_000540.3(RYR1):c.6635T>A (p.Val2212Asp) rs193922793
NM_000540.3(RYR1):c.6635T>C (p.Val2212Ala) rs193922793
NM_000540.3(RYR1):c.677T>A (p.Met226Lys) rs112596687
NM_000540.3(RYR1):c.680A>T (p.Asp227Val) rs193922760
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.7032G>C (p.Glu2344Asp) rs193922798
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.3(RYR1):c.7085A>G (p.Glu2362Gly) rs193922804
NM_000540.3(RYR1):c.7090T>G (p.Phe2364Val) rs193922805
NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg) rs193922806
NM_000540.3(RYR1):c.7102C>T (p.Leu2368=) rs139498212
NM_000540.3(RYR1):c.7124G>C (p.Gly2375Ala) rs193922807
NM_000540.3(RYR1):c.7261G>C (p.Ala2421Pro) rs193922808
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu) rs28933396
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val) rs193922812
NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp) rs193922813
NM_000540.3(RYR1):c.7324-1G>T rs193922814
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7500G>T (p.Ala2500=) rs2228072
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.7528T>C (p.Tyr2510His) rs193922819
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp) rs193922820
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val) rs193922821
NM_000540.3(RYR1):c.7771C>T (p.Arg2591Trp) rs193922822
NM_000540.3(RYR1):c.7888G>C (p.Val2630Leu) rs193922825
NM_000540.3(RYR1):c.8188G>C (p.Asp2730His) rs193922827
NM_000540.3(RYR1):c.8189A>G (p.Asp2730Gly) rs112196644
NM_000540.3(RYR1):c.8198G>A (p.Gly2733Asp) rs193922828
NM_000540.3(RYR1):c.8600T>A (p.Leu2867Gln) rs193922831
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.3(RYR1):c.9554+190G>T rs2915942
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000543.5(SMPD1):c.952G>A (p.Val318Met) rs875989837
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1101-2A>C rs587781664
NM_000546.6(TP53):c.1101-2A>G rs587781664
NM_000546.6(TP53):c.1101-2A>T rs587781664
NM_000546.6(TP53):c.375+1G>A rs1567555445
NM_000546.6(TP53):c.375+1G>T rs1567555445
NM_000546.6(TP53):c.375+1del
NM_000546.6(TP53):c.375+2T>C rs1555526469
NM_000546.6(TP53):c.375+2T>G rs1555526469
NM_000546.6(TP53):c.375+5G>A rs1555526466
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.375G>T (p.Thr125=) rs55863639
NM_000546.6(TP53):c.376-1G>C
NM_000546.6(TP53):c.376-1G>T rs868137297
NM_000546.6(TP53):c.376-2A>C rs786202799
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.376-2A>T rs786202799
NM_000546.6(TP53):c.450_459del (p.Pro151fs) rs137852791
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.559+1G>T rs1131691042
NM_000546.6(TP53):c.559+2T>A rs1597369404
NM_000546.6(TP53):c.559G>C (p.Gly187Arg) rs776167460
NM_000546.6(TP53):c.560-1G>C rs1202793339
NM_000546.6(TP53):c.560-2A>C rs1427441061
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.672+1G>T rs863224499
NM_000546.6(TP53):c.672+2T>A rs1555525703
NM_000546.6(TP53):c.672+2T>C rs1555525703
NM_000546.6(TP53):c.672+2T>G rs1555525703
NM_000546.6(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.6(TP53):c.672G>T (p.Glu224Asp) rs267605076
NM_000546.6(TP53):c.673-1G>A rs878854073
NM_000546.6(TP53):c.673-1G>C rs878854073
NM_000546.6(TP53):c.673-1G>T rs878854073
NM_000546.6(TP53):c.673-2A>C rs1555525585
NM_000546.6(TP53):c.673-2A>G rs1555525585
NM_000546.6(TP53):c.673-2A>T rs1555525585
NM_000546.6(TP53):c.75-1G>T rs2151045740
NM_000546.6(TP53):c.75-2A>G rs1131691020
NM_000546.6(TP53):c.782+1G>A rs1555525429
NM_000546.6(TP53):c.782+1G>T rs1555525429
NM_000546.6(TP53):c.782+2T>G rs876659076
NM_000546.6(TP53):c.782G>C (p.Ser261Thr) rs786203396
NM_000546.6(TP53):c.783-1G>T rs1555525367
NM_000546.6(TP53):c.783-2A>C rs1060501207
NM_000546.6(TP53):c.783-2A>T rs1060501207
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.919+1G>C rs1131691039
NM_000546.6(TP53):c.919+1G>T rs1131691039
NM_000546.6(TP53):c.919+2T>G rs1131691016
NM_000546.6(TP53):c.920-1G>A rs587781702
NM_000546.6(TP53):c.920-1G>T rs587781702
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.96+1G>A rs1131691003
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.97-1G>A rs1597375294
NM_000546.6(TP53):c.993+1G>A rs11575997
NM_000546.6(TP53):c.993+1G>C rs11575997
NM_000546.6(TP53):c.993+1G>T rs11575997
NM_000546.6(TP53):c.993+2T>C rs1597359053
NM_000546.6(TP53):c.993+2T>G rs1597359053
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.6(TP53):c.994-1G>A rs587782272
NM_000546.6(TP53):c.994-1G>C rs587782272
NM_000546.6(TP53):c.994-1G>T rs587782272
NM_000546.6(TP53):c.994-2A>C rs867389695
NM_000546.6(TP53):c.994-2A>G rs867389695
NM_000546.6(TP53):c.994-2A>T rs867389695
NM_000548.4(TSC2):c.1600_1716del (p.Val534_Gln572del)
NM_000548.5(TSC2):c.1119+2T>C rs137854173
NM_000548.5(TSC2):c.1716+1G>T rs45517190
NM_000548.5(TSC2):c.1946+2T>C rs397515247
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.3285-3C>G rs781023043
NM_000548.5(TSC2):c.3610+1G>C rs45517299
NM_000548.5(TSC2):c.4889_4989+135del rs137854272
NM_000551.4(VHL):c.340+1G>C rs730882032
NM_000551.4(VHL):c.463+2T>C rs5030814
NM_000551.4(VHL):c.464-1G>C rs5030817
NM_000551.4(VHL):c.464-1G>T rs5030817
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000552.2(VWF):c.-1873A>G rs267607373
NM_000552.2(VWF):c.-1896C>T rs267607374
NM_000552.2(VWF):c.-2328T>G rs267607375
NM_000552.2(VWF):c.-2615A>G rs267607376
NM_000552.5(VWF):c.100C>G (p.Arg34Gly) rs61753984
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.1109+2T>C rs61754004
NM_000552.5(VWF):c.1110-1G>A rs61754005
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter) rs62643625
NM_000552.5(VWF):c.1131G>T (p.Trp377Cys) rs62643626
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.1280T>A (p.Ile427Asn) rs61754007
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del) rs267607305
NM_000552.5(VWF):c.139G>C (p.Asp47His) rs61753985
NM_000552.5(VWF):c.147C>A (p.Ser49Arg) rs61753986
NM_000552.5(VWF):c.1573G>A (p.Gly525Arg) rs267607306
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.5(VWF):c.1709G>C (p.Cys570Ser) rs61754013
NM_000552.5(VWF):c.171C>A (p.Cys57Ter) rs61753987
NM_000552.5(VWF):c.1730-2A>G rs61754014
NM_000552.5(VWF):c.1830C>A (p.Tyr610Ter) rs61754015
NM_000552.5(VWF):c.1858G>T (p.Glu620Ter) rs61754016
NM_000552.5(VWF):c.1868GCG[3] (p.Gly624dup) rs61754018
NM_000552.5(VWF):c.1869C>G (p.Cys623Trp) rs61754017
NM_000552.5(VWF):c.191del (p.Gly64fs) rs62643618
NM_000552.5(VWF):c.1926G>A (p.Trp642Ter) rs61754666
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter) rs61748460
NM_000552.5(VWF):c.2016_2019del (p.Ser673fs) rs61748462
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter) rs61748463
NM_000552.5(VWF):c.2124_2125del (p.Cys709fs) rs61748464
NM_000552.5(VWF):c.212C>A (p.Ser71Ter) rs62643619
NM_000552.5(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.2284A>G (p.Lys762Glu) rs267607310
NM_000552.5(VWF):c.2287A>G (p.Arg763Gly) rs61748469
NM_000552.5(VWF):c.2313G>T (p.Met771Ile) rs61748470
NM_000552.5(VWF):c.2345G>A (p.Arg782Gln) rs61748472
NM_000552.5(VWF):c.2354G>A (p.Gly785Glu) rs61748473
NM_000552.5(VWF):c.2359G>A (p.Glu787Lys) rs61748474
NM_000552.5(VWF):c.2362T>C (p.Cys788Arg) rs61748475
NM_000552.5(VWF):c.2363G>A (p.Cys788Tyr) rs61748476
NM_000552.5(VWF):c.2365A>C (p.Thr789Pro) rs1063856
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2398A>G (p.Met800Val) rs61748479
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.253T>C (p.Ser85Pro) rs62643620
NM_000552.5(VWF):c.2540dup (p.Asn847fs) rs267607311
NM_000552.5(VWF):c.2573G>T (p.Cys858Phe) rs61748484
NM_000552.5(VWF):c.2641del (p.Leu881fs) rs61748486
NM_000552.5(VWF):c.2685+2T>C rs61748487
NM_000552.5(VWF):c.2686-1G>C rs61748488
NM_000552.5(VWF):c.2686-2A>G rs61748489
NM_000552.5(VWF):c.2734_2735insT (p.Lys912fs) rs61748490
NM_000552.5(VWF):c.276del (p.Phe92fs) rs61753988
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.2820+1G>A rs61748492
NM_000552.5(VWF):c.2820+1G>C rs61748492
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.2986T>G (p.Cys996Gly) rs61748493
NM_000552.5(VWF):c.3072del (p.Trp1025fs) rs267607313
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr) rs267607314
NM_000552.5(VWF):c.3212G>T (p.Cys1071Phe) rs267607315
NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys) rs267607316
NM_000552.5(VWF):c.3301T>C (p.Cys1101Arg) rs202034414
NM_000552.5(VWF):c.3303C>G (p.Cys1101Trp) rs267607318
NM_000552.5(VWF):c.3332G>A (p.Cys1111Tyr) rs267607320
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3385_3386del (p.Ser1129fs) rs267607322
NM_000552.5(VWF):c.3388T>C (p.Cys1130Arg) rs267607323
NM_000552.5(VWF):c.3388T>G (p.Cys1130Gly) rs267607323
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) rs267607324
NM_000552.5(VWF):c.3430T>G (p.Trp1144Gly) rs267607325
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.5(VWF):c.3460C>T (p.Gln1154Ter) rs267607327
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3470G>T (p.Cys1157Phe) rs267607329
NM_000552.5(VWF):c.3511G>C (p.Glu1171Gln) rs267607330
NM_000552.5(VWF):c.3538+1G>A rs267607331
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3586T>C (p.Cys1196Arg) rs61749365
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) rs121964895
NM_000552.5(VWF):c.3673T>G (p.Cys1225Gly) rs267607333
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3702T>G (p.Cys1234Trp) rs61749369
NM_000552.5(VWF):c.374_387del (p.Gly125fs) rs63749066
NM_000552.5(VWF):c.375_376delinsC (p.Tyr126fs) rs267607300
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>A (p.His1268Asn) rs61749371
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3806_3814dup (p.Tyr1271_Cys1272insTyrPheTyr) rs63524160
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.3814T>G (p.Cys1272Gly) rs61749372
NM_000552.5(VWF):c.3815G>C (p.Cys1272Ser) rs63524161
NM_000552.5(VWF):c.3815G>T (p.Cys1272Phe) rs63524161
NM_000552.5(VWF):c.3827T>C (p.Leu1276Pro) rs61749374
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu) rs61749375
NM_000552.5(VWF):c.3835G>T (p.Val1279Phe) rs61749376
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs) rs61749377
NM_000552.5(VWF):c.3845T>G (p.Leu1282Arg) rs61749378
NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro) rs61749379
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu) rs267607335
NM_000552.5(VWF):c.3887T>C (p.Leu1296Pro) rs61749381
NM_000552.5(VWF):c.3907ATG[3] (p.Met1304dup) rs61749383
NM_000552.5(VWF):c.3910A>G (p.Met1304Val) rs267607336
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu) rs61749385
NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro) rs61749386
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3923G>C (p.Arg1308Pro) rs61749388
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3929C>T (p.Ser1310Phe) rs61749390
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.5(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.5(VWF):c.3941T>A (p.Val1314Asp) rs61749394
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu) rs61749396
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala) rs61749399
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4013C>G (p.Ser1338Ter) rs61749401
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) rs61749403
NM_000552.5(VWF):c.4022G>T (p.Arg1341Leu) rs61749403
NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter) rs61749405
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.5(VWF):c.4085A>C (p.Lys1362Thr) rs61750067
NM_000552.5(VWF):c.4092_4093del (p.Leu1365fs) rs61750068
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4120C>A (p.Arg1374Ser) rs61750071
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4133C>T (p.Ser1378Phe) rs61750073
NM_000552.5(VWF):c.4148T>C (p.Leu1383Pro) rs61750075
NM_000552.5(VWF):c.4148T>G (p.Leu1383Arg) rs61750075
NM_000552.5(VWF):c.4173_4205del (p.Arg1392_Gln1402del) rs63749069
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.421G>T (p.Asp141Tyr) rs61753992
NM_000552.5(VWF):c.422A>G (p.Asp141Gly) rs61753993
NM_000552.5(VWF):c.4244G>A (p.Gly1415Asp) rs61750080
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.4263C>G (p.Asn1421Lys) rs61750082
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.4368C>A (p.Tyr1456Ter) rs61750086
NM_000552.5(VWF):c.4368C>G (p.Tyr1456Ter) rs61750086
NM_000552.5(VWF):c.4373G>A (p.Cys1458Tyr) rs61750087
NM_000552.5(VWF):c.4378C>G (p.Leu1460Val) rs61750088
NM_000552.5(VWF):c.4382C>A (p.Ala1461Asp) rs61750089
NM_000552.5(VWF):c.4382C>T (p.Ala1461Val) rs61750089
NM_000552.5(VWF):c.4414delinsCC (p.Asp1472fs) rs1555194995
NM_000552.5(VWF):c.4415_4416insG (p.Asp1472fs) rs61750093
NM_000552.5(VWF):c.4423C>T (p.Gln1475Ter) rs61750094
NM_000552.5(VWF):c.4453del (p.Val1485fs) rs61750095
NM_000552.5(VWF):c.4499C>A (p.Ala1500Glu) rs61750096
NM_000552.5(VWF):c.449T>A (p.Leu150Gln) rs61753994
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln) rs61750097
NM_000552.5(VWF):c.4508T>C (p.Leu1503Pro) rs61750097
NM_000552.5(VWF):c.4508T>G (p.Leu1503Arg) rs61750097
NM_000552.5(VWF):c.4513G>C (p.Gly1505Arg) rs61750098
NM_000552.5(VWF):c.4514G>A (p.Gly1505Glu) rs61750099
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.5(VWF):c.4552A>G (p.Lys1518Glu) rs61750102
NM_000552.5(VWF):c.4570del (p.Glu1523_Val1524insTer) rs61750103
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4616T>A (p.Val1539Glu) rs267607341
NM_000552.5(VWF):c.4619T>C (p.Leu1540Pro) rs267607342
NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter) rs267607343
NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe) rs267607344
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4637_4645del (p.Val1546_Val1548del) rs267607346
NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys) rs267607347
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg) rs61750110
NM_000552.5(VWF):c.4685T>C (p.Leu1562Pro) rs61750111
NM_000552.5(VWF):c.4703T>A (p.Ile1568Asn) rs267607348
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) rs267607349
NM_000552.5(VWF):c.4735G>A (p.Gly1579Arg) rs61750113
NM_000552.5(VWF):c.4738C>G (p.Leu1580Val) rs61750114
NM_000552.5(VWF):c.4739T>C (p.Leu1580Pro) rs61750115
NM_000552.5(VWF):c.4789C>G (p.Arg1597Gly) rs61750117
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.478G>T (p.Gly160Trp) rs61753995
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4790G>T (p.Arg1597Leu) rs61750577
NM_000552.5(VWF):c.4808T>C (p.Leu1603Pro) rs267607350
NM_000552.5(VWF):c.4810G>T (p.Val1604Phe) rs61750578
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.5(VWF):c.4841A>G (p.Asp1614Gly) rs61750582
NM_000552.5(VWF):c.4880C>A (p.Pro1627His) rs61750583
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4885G>A (p.Gly1629Arg) rs61750585
NM_000552.5(VWF):c.4886del (p.Gly1629fs) rs61750586
NM_000552.5(VWF):c.4889T>A (p.Val1630Glu) rs61750587
NM_000552.5(VWF):c.4912G>A (p.Glu1638Lys) rs61750588
NM_000552.5(VWF):c.4916T>C (p.Leu1639Pro) rs61750589
NM_000552.5(VWF):c.4942C>T (p.Pro1648Ser) rs61750590
NM_000552.5(VWF):c.4943C>G (p.Pro1648Arg) rs267607351
NM_000552.5(VWF):c.4969C>A (p.Leu1657Ile) rs61750592
NM_000552.5(VWF):c.4970T>A (p.Leu1657His) rs61750593
NM_000552.5(VWF):c.4975dup (p.Arg1659fs) rs61750594
NM_000552.5(VWF):c.497A>T (p.Asn166Ile) rs62643622
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu) rs61750596
NM_000552.5(VWF):c.5004G>T (p.Arg1668Ser) rs61750597
NM_000552.5(VWF):c.5023_5024delinsTA (p.Leu1675Ter) rs61750599
NM_000552.5(VWF):c.5053+1G>A rs61750600
NM_000552.5(VWF):c.5053+1G>T rs61750600
NM_000552.5(VWF):c.5180_5181insTT (p.Thr1728fs) rs61750602
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.5(VWF):c.533-2A>G rs267607301
NM_000552.5(VWF):c.5356C>G (p.His1786Asp) rs267607354
NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) rs267607355
NM_000552.5(VWF):c.5465T>G (p.Val1822Gly) rs61750609
NM_000552.5(VWF):c.5471C>A (p.Pro1824His) rs61750610
NM_000552.5(VWF):c.5890C>A (p.Gln1964Lys) rs267607356
NM_000552.5(VWF):c.5941G>T (p.Glu1981Ter) rs61750613
NM_000552.5(VWF):c.6182del (p.Phe2061fs) rs61750614
NM_000552.5(VWF):c.6385G>T (p.Glu2129Ter) rs61750617
NM_000552.5(VWF):c.6520T>G (p.Cys2174Gly) rs61750619
NM_000552.5(VWF):c.652C>T (p.Gln218Ter) rs62643623
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6620T>C (p.Leu2207Pro) rs61750622
NM_000552.5(VWF):c.666G>A (p.Trp222Ter) rs62643624
NM_000552.5(VWF):c.6697G>C (p.Glu2233Gln) rs61750623
NM_000552.5(VWF):c.6769T>A (p.Cys2257Ser) rs62643638
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6977-1G>C rs61750627
NM_000552.5(VWF):c.7018T>C (p.Cys2340Arg) rs61750628
NM_000552.5(VWF):c.7028G>T (p.Gly2343Val) rs61750629
NM_000552.5(VWF):c.7082-2A>G rs267607358
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.5(VWF):c.7130dup (p.His2378fs) rs267607359
NM_000552.5(VWF):c.7139dup (p.Leu2380fs) rs267607361
NM_000552.5(VWF):c.7176T>G (p.Tyr2392Ter) rs61751285
NM_000552.5(VWF):c.7294_7295del (p.Val2432fs) rs62643639
NM_000552.5(VWF):c.7321G>T (p.Gly2441Cys) rs62643641
NM_000552.5(VWF):c.7377_7393dup (p.Val2465delinsAlaTer) rs267607362
NM_000552.5(VWF):c.7405T>C (p.Ser2469Pro) rs61751287
NM_000552.5(VWF):c.7430G>A (p.Cys2477Tyr) rs61751289
NM_000552.5(VWF):c.7430G>C (p.Cys2477Ser) rs61751289
NM_000552.5(VWF):c.7437+1G>A rs61751290
NM_000552.5(VWF):c.7449_7450insA (p.Val2484fs) rs61751291
NM_000552.5(VWF):c.7559A>C (p.Gln2520Pro) rs61751294
NM_000552.5(VWF):c.7599T>A (p.Cys2533Ter) rs61751295
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter) rs61751297
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7674dup (p.Ser2559fs) rs267607365
NM_000552.5(VWF):c.7683del (p.Gln2562fs) rs61751300
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.7730-1G>C rs267607366
NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.5(VWF):c.8078G>A (p.Cys2693Tyr) rs62641243
NM_000552.5(VWF):c.8155+3G>C rs61751304
NM_000552.5(VWF):c.8155+3G>T rs61751304
NM_000552.5(VWF):c.8187_8194del (p.Arg2730fs) rs267607367
NM_000552.5(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.5(VWF):c.823T>C (p.Cys275Arg) rs61753998
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368
NM_000552.5(VWF):c.8262T>G (p.Cys2754Trp) rs61751306
NM_000552.5(VWF):c.8311T>A (p.Cys2771Ser) rs61751307
NM_000552.5(VWF):c.8312G>A (p.Cys2771Tyr) rs61751308
NM_000552.5(VWF):c.8316del (p.Cys2773fs) rs61751309
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser) rs61751311
NM_000552.5(VWF):c.8341C>T (p.Pro2781Ser) rs61751313
NM_000552.5(VWF):c.8402C>A (p.Ala2801Asp) rs267607369
NM_000552.5(VWF):c.8411G>A (p.Cys2804Tyr) rs267607370
NM_000552.5(VWF):c.8412_8413insTCCCC (p.Lys2805fs) rs267607371
NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg) rs267607372
NM_000552.5(VWF):c.874+1G>A rs267607302
NM_000552.5(VWF):c.893dup (p.Met299fs) rs267607303
NM_000552.5(VWF):c.988dup (p.Ser330fs) rs267607304
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000554.6(CRX):c.100+2T>C rs281865198
NM_000554.6(CRX):c.101-13C>G rs281865199
NM_000554.6(CRX):c.101-65A>T rs281865200
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) rs62654391
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) rs104894671
NM_000554.6(CRX):c.24dup (p.Pro9fs) rs62636512
NM_000554.6(CRX):c.253-18T>A rs281865201
NM_000554.6(CRX):c.351dup (p.Lys118fs) rs61748440
NM_000554.6(CRX):c.436_447del (p.Leu146_Pro149del) rs281865202
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.503_504del (p.Glu168fs) rs61748446
NM_000554.6(CRX):c.505del (p.Ser169fs) rs61748447
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.541del (p.Ala181fs) rs61748450
NM_000554.6(CRX):c.571del (p.Tyr191fs) rs61748452
NM_000554.6(CRX):c.585dup (p.Ala196fs) rs61748453
NM_000554.6(CRX):c.587_590del (p.Ala196fs) rs61748454
NM_000554.6(CRX):c.615del (p.Ser206fs) rs281865516
NM_000554.6(CRX):c.650del (p.Gly217fs) rs281865517
NM_000554.6(CRX):c.709del (p.Leu237fs) rs281865518
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.789del (p.Val264fs) rs281865519
NM_000558.5(HBA1):c.198_209dup (p.Leu67_Ala70dup) rs34277525
NM_000602.5(SERPINE1):c.1172-3C>G
NM_000619.3(IFNG):c.*93TCAA[1] rs137854903
NM_000698.5(ALOX5):c.1273-34C>T rs179363899
NM_000809.4(GABRA4):c.899C>T (p.Thr300Ile)
NM_000834.5(GRIN2B):c.465C>A (p.Ser155=) rs115189840
NM_000843.4(GRM6):c.172G>C (p.Gly58Arg) rs62638198
NM_000843.4(GRM6):c.1958G>A (p.Arg653His) rs62638622
NM_000843.4(GRM6):c.336C>T (p.Phe112=) rs62638200
NM_000843.4(GRM6):c.57_75dup (p.Leu26fs) rs281865185
NM_000843.4(GRM6):c.686G>A (p.Gly229Glu) rs62638205
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000843.4(GRM6):c.727dup rs281865186
NM_000843.4(GRM6):c.83G>A (p.Arg28His) rs62638196
NM_000868.4(HTR2C):c.1170G>T (p.Glu390Asp) rs2071382276
NM_000942.5(PPIB):c.120del (p.Val42fs) rs137853865
NM_000942.5(PPIB):c.178G>T (p.Val60Leu) rs11558595
NM_000942.5(PPIB):c.26T>G (p.Met9Arg) rs137853864
NM_000942.5(PPIB):c.451C>T (p.Gln151Ter) rs121434559
NM_000942.5(PPIB):c.492C>G (p.Gly164=) rs28720193
NM_000945.3(PPP3R1):c.-460_-459insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC rs72174030
NM_000945.4(PPP3R1):c.4-1055_4-1051del rs3039851
NM_000969.5(RPL5):c.-46C>A rs376208311
NM_001001563.5(TIMM50):c.291G>A (p.Lys97=)
NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter) rs1553693863
NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr) rs796064507
NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter) rs139281548
NM_001004334.4(GPR179):c.1364G>A (p.Gly455Asp) rs281875235
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr) rs281875234
NM_001004334.4(GPR179):c.376G>C (p.Asp126His) rs281875233
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005279.3(OR6K2):c.669_670insA (p.Ala224fs) rs1553241101
NM_001006658.3(CR2):c.2018C>G (p.Thr673Arg) rs141171306
NM_001007228.2(SPOP):c.79-1G>C rs2143295744
NM_001007228.2(SPOP):c.79-1G>T rs2143295744
NM_001009944.3(PKD1):c.12173T>G (p.Val4058Gly) rs80360485
NM_001009944.3(PKD1):c.5657C>T (p.Pro1886Leu) rs80360487
NM_001009944.3(PKD1):c.5836C>A (p.His1946Asn) rs80360489
NM_001018005.2(TPM1):c.109A>G (p.Lys37Glu) rs199476303
NM_001018005.2(TPM1):c.172G>C (p.Asp58His) rs199476304
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.209A>C (p.Lys70Thr) rs199476307
NM_001018005.2(TPM1):c.241-12_241-11delinsTG rs199476309
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.403C>A (p.Gln135Lys) rs11558749
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn) rs199476301
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.539A>T (p.Glu180Val) rs104894502
NM_001018005.2(TPM1):c.549T>G (p.Ala183=) rs199476313
NM_001018005.2(TPM1):c.554T>G (p.Leu185Arg) rs199476314
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.61= (p.Arg21=) rs1437698471
NM_001018005.2(TPM1):c.67G>C (p.Glu23Gln) rs199476302
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr) rs199476318
NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu) rs199476319
NM_001018005.2(TPM1):c.830C>T (p.Ala277Val) rs199476320
NM_001025.5(RPS23):c.200G>A (p.Arg67Lys) rs1060505034
NM_001030006.2(AP2B1):c.240G>T (p.Gln80His) rs2073654935
NM_001031684.3(SRSF7):c.357T>A (p.Cys119Ter)
NM_001031685.3(TP53BP2):c.109G>A (p.Val37Met)
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.78_79del (p.Glu27fs) rs1554775956
NM_001033044.4(GLUL):c.329-2A>G rs2101933749
NM_001033044.4(GLUL):c.604-2A>G rs2101932398
NM_001034853.2(RPGR):c.101del (p.Asn34fs) rs281865295
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.1100del (p.Pro367fs) rs62635000
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_001034853.2(RPGR):c.1243_1244dup (p.Glu416fs) rs281865302
NM_001034853.2(RPGR):c.1245+3A>G rs62635002
NM_001034853.2(RPGR):c.1261_1279del (p.Ser421fs) rs281865303
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg) rs62638629
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu) rs62638630
NM_001034853.2(RPGR):c.1307G>A (p.Gly436Asp) rs62635004
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs) rs62653030
NM_001034853.2(RPGR):c.1477del (p.Gly494fs) rs62635005
NM_001034853.2(RPGR):c.1478T>A (p.Leu493His) rs62635006
NM_001034853.2(RPGR):c.1507-68T>C rs62643066
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs) rs281865304
NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter) rs281865296
NM_001034853.2(RPGR):c.155-2A>G rs62638632
NM_001034853.2(RPGR):c.1573-1G>A rs62635010
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1573-8A>G rs62635011
NM_001034853.2(RPGR):c.1575_1578del (p.Lys525fs) rs281865305
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter) rs62635013
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_001034853.2(RPGR):c.1835dup (p.Asn612fs) rs62635014
NM_001034853.2(RPGR):c.237_238del (p.Val81fs) rs62650215
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.248-6T>A rs62638635
NM_001034853.2(RPGR):c.28+1G>A rs62638627
NM_001034853.2(RPGR):c.28+5G>A rs62638626
NM_001034853.2(RPGR):c.294C>A (p.His98Gln) rs62638636
NM_001034853.2(RPGR):c.295_296dup (p.Leu100fs) rs62638638
NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn) rs62638637
NM_001034853.2(RPGR):c.310+1G>C rs62638639
NM_001034853.2(RPGR):c.310+3A>G rs62638640
NM_001034853.2(RPGR):c.356del (p.Leu119fs) rs62638641
NM_001034853.2(RPGR):c.372del (p.Glu125fs) rs62638642
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter) rs62638645
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter) rs62638648
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter) rs62650216
NM_001034853.2(RPGR):c.605C>A (p.Ser202Ter) rs62650217
NM_001034853.2(RPGR):c.619+5G>A rs62638649
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter) rs62638652
NM_001034853.2(RPGR):c.730A>T (p.Lys244Ter) rs62638653
NM_001034853.2(RPGR):c.747del (p.Cys250fs) rs62650219
NM_001034853.2(RPGR):c.748T>C (p.Cys250Arg) rs62650220
NM_001034853.2(RPGR):c.750_751del (p.Cys250fs) rs281865299
NM_001034853.2(RPGR):c.779-1G>A rs62638655
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.2(RPGR):c.833_836del (p.Thr278fs) rs62640584
NM_001034853.2(RPGR):c.836_837del (p.Phe279fs) rs62640586
NM_001034853.2(RPGR):c.837del (p.Leu280fs) rs62640586
NM_001034853.2(RPGR):c.869del (p.Glu290fs) rs62640588
NM_001034853.2(RPGR):c.886_900del (p.Thr296_Ile300del) rs62653026
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg) rs62640589
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_001034853.2(RPGR):c.931A>G (p.Thr311Ala) rs62640591
NM_001034853.2(RPGR):c.934+1G>A rs62640592
NM_001034853.2(RPGR):c.934+1G>C rs62640592
NM_001034853.2(RPGR):c.958G>A (p.Gly320Arg) rs62640593
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter) rs62642058
NM_001036.6(RYR3):c.14416C>T (p.His4806Tyr) rs2153018158
NM_001036.6(RYR3):c.6799G>A (p.Val2267Ile) rs2068053416
NM_001036.6(RYR3):c.9290T>G (p.Val3097Gly) rs1555456665
NM_001042472.3(ABHD12):c.1157+3G>C
NM_001042492.3(NF1):c.1010A>T (p.Glu337Val) rs199474736
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1177C>G (p.His393Asp) rs199474768
NM_001042492.3(NF1):c.1178A>T (p.His393Leu) rs199474769
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_001042492.3(NF1):c.1392+1G>T rs267604791
NM_001042492.3(NF1):c.1556A>C (p.Gln519Pro) rs199474770
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1742T>C (p.Ile581Thr) rs199474759
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1810T>G (p.Leu604Val) rs142712751
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_001042492.3(NF1):c.221C>A (p.Ala74Asp) rs199474726
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr) rs199474771
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro) rs199474775
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_001042492.3(NF1):c.3440T>C (p.Leu1147Pro) rs199474779
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3497G>A (p.Gly1166Asp) rs199474787
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser) rs199474731
NM_001042492.3(NF1):c.3578T>G (p.Phe1193Cys) rs199474780
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3749G>C (p.Arg1250Pro) rs199474765
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln) rs199474790
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg) rs199474788
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332+2T>C rs786204207
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro) rs199474734
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr) rs199474754
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu) rs199474755
NM_001042492.3(NF1):c.4451C>T (p.Ser1484Phe) rs199474772
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn) rs199474744
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser) rs199474782
NM_001042492.3(NF1):c.581T>G (p.Leu194Arg) rs199474753
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6024T>C (p.Asp2008=) rs2069668775
NM_001042492.3(NF1):c.6034G>A (p.Asp2012Asn) rs199474783
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6661C>G (p.Pro2221Ala) rs199474776
NM_001042492.3(NF1):c.7063-1G>A rs1131691114
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys) rs199474784
NM_001042492.3(NF1):c.7615+1G>A rs1555536380
NM_001042492.3(NF1):c.92A>G (p.His31Arg) rs199474725
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg) rs199474735
NM_001042492.3(NF1):c.988G>A (p.Ala330Thr) rs199474767
NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser) rs121918125
NM_001069.3(TUBB2A):c.161C>A (p.Ala54Asp) rs1762626578
NM_001077365.2(POMT1):c.1082+2T>C rs2131683729
NM_001079802.2(FKTN):c.165+1G>A
NM_001080437.3(SNED1):c.210_211dup (p.Tyr71fs) rs1553548453
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs) rs1565638431
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083961.2(WDR62):c.2034+1G>A rs1972529051
NM_001083962.2(TCF4):c.550-3C>G rs2146266048
NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) rs397518427
NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro) rs397518428
NM_001089.3(ABCA3):c.4322T>C (p.Phe1441Ser) rs397518429
NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys) rs397518430
NM_001089.3(ABCA3):c.613G>A (p.Gly205Arg) rs397518426
NM_001093730.1(DYTN):c.1281_1282dup (p.Glu428fs) rs534558800
NM_001099857.5(IKBKG):c.1250G>A (p.Cys417Tyr) rs137853326
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe) rs137853326
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly) rs179363866
NM_001099857.5(IKBKG):c.524G>C (p.Arg175Pro) rs179363868
NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro) rs179363869
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_001099857.5(IKBKG):c.967G>C (p.Ala323Pro) rs179363865
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.803-2A>T rs879226771
NM_001110792.2(MECP2):c.*796_*822del rs267608375
NM_001110792.2(MECP2):c.1001_1006del (p.Pro334_Leu335del) rs61751452
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del) rs61751456
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs) rs267608376
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) rs267608400
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs) rs267608380
NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs) rs267608377
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs) rs267608378
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs) rs267608381
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs) rs267608385
NM_001110792.2(MECP2):c.1140C>T (p.His380=) rs61752382
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs) rs267608340
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs) rs267608379
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs) rs267608348
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs) rs267608389
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del) rs267608350
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) rs267608392
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) rs267608339
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs) rs267608334
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs) rs267608349
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs) rs267608369
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del) rs267608335
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs) rs267608383
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) rs267608333
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs) rs267608403
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs) rs63749018
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs) rs267608338
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs) rs267608351
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del) rs63749027
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs) rs267608374
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) rs267608404
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs) rs267608393
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) rs267608337
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) rs267608399
NM_001110792.2(MECP2):c.312_313insG (p.Pro105fs) rs267608405
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter) rs267608398
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.413+1G>A rs267608463
NM_001110792.2(MECP2):c.413+1G>T rs267608463
NM_001110792.2(MECP2):c.413+2T>G rs267608458
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-241C>T rs3027931
NM_001110792.2(MECP2):c.414-2A>C rs267608464
NM_001110792.2(MECP2):c.414-2A>G rs267608464
NM_001110792.2(MECP2):c.414-2A>T rs267608464
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_001110792.2(MECP2):c.414-74C>G rs2071569
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.504C>T (p.Asp168=) rs61748408
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.63-8C>G rs267608410
NM_001110792.2(MECP2):c.63-9A>G rs267608413
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp) rs63485860
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) rs61751443
NM_001114123.3(ELK1):c.775G>T (p.Val259Phe) rs2147941597
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001123376.3(TMEM72):c.413C>A (p.Ala138Asp) rs587777896
NM_001123385.2(BCOR):c.4173+2T>C rs2147028921
NM_001127198.5(TMC6):c.1950C>T (p.Thr650=) rs2613516
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys) rs543458967
NM_001127255.1(NLRP7):c.*374G>A rs199475831
NM_001127255.2(NLRP7):c.1080C>A (p.Gly360=) rs199475825
NM_001127255.2(NLRP7):c.1461G>A (p.Gly487=) rs199475829
NM_001127255.2(NLRP7):c.1823C>T (p.Ser608Phe) rs199475830
NM_001127255.2(NLRP7):c.446A>G (p.Asp149Gly) rs199475822
NM_001128840.3(CACNA1D):c.2621+1G>A
NM_001128840.3(CACNA1D):c.4563A>T (p.Leu1521Phe) rs761795151
NM_001129898.2(KRBOX4):c.254-1610_254-1608delinsT rs2146571577
NM_001130009.3(GEN1):c.1623A>G (p.Gln541=) rs916698138
NM_001130438.3(SPTAN1):c.3586C>G (p.Arg1196Gly) rs1156936601
NM_001134407.3(GRIN2A):c.1202C>T (p.Pro401Leu) rs1489261681
NM_001134407.3(GRIN2A):c.1362A>G (p.Lys454=) rs367543144
NM_001134407.3(GRIN2A):c.1557T>C (p.Ser519=) rs367543143
NM_001134407.3(GRIN2A):c.1749A>G (p.Gly583=) rs367543141
NM_001134407.3(GRIN2A):c.205G>A (p.Val69Met) rs367543128
NM_001134407.3(GRIN2A):c.2199A>G (p.Ala733=) rs367543139
NM_001134407.3(GRIN2A):c.2639A>G (p.Lys880Arg) rs367543137
NM_001134407.3(GRIN2A):c.2657A>G (p.Asn886Ser) rs367543136
NM_001134407.3(GRIN2A):c.3413A>T (p.Asn1138Ile) rs367543135
NM_001134407.3(GRIN2A):c.3647G>C (p.Ser1216Thr) rs367543134
NM_001134407.3(GRIN2A):c.3700T>G (p.Phe1234Val) rs367543133
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=) rs367543126
NM_001134407.3(GRIN2A):c.730C>T (p.Arg244Cys) rs367543123
NM_001134407.3(GRIN2A):c.909A>G (p.Ala303=) rs367543121
NM_001134831.2(AHI1):c.1441-1G>C
NM_001135179.2(ZDHHC3):c.147C>T (p.Ile49=) rs367543250
NM_001135179.2(ZDHHC3):c.617G>C (p.Ser206Thr) rs367543249
NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer) rs372628445
NM_001141980.3(TP53BP1):c.4100+1G>A rs2142992080
NM_001141980.3(TP53BP1):c.5306-2A>G rs2142944572
NM_001142459.2(ASB10):c.194G>A (p.Gly65Glu) rs104886491
NM_001143831.3(GRM5):c.797G>C (p.Ser266Thr) rs1565260714
NM_001144989.2(ZNF814):c.1892del (p.Pro631fs) rs1555777007
NM_001145004.2(GOLGA6L6):c.2015T>C (p.Met672Thr) rs4932675
NM_001148.6(ANK2):c.7205T>C (p.Val2402Ala) rs199473345
NM_001159995.3(NRG1):c.37+564G>A rs367543150
NM_001159995.3(NRG1):c.37+564G>C rs367543150
NM_001162501.2(TNRC6B):c.2247G>T (p.Trp749Cys) rs200598254
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1118C>A (p.Ala373Asp) rs193302901
NM_001164277.2(SLC37A4):c.1126G>A (p.Gly376Ser) rs193302897
NM_001164277.2(SLC37A4):c.148G>C (p.Gly50Arg) rs193302894
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.2(SLC37A4):c.162C>A (p.Ser54Arg) rs193302898
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.254T>C (p.Leu85Pro) rs193302899
NM_001164277.2(SLC37A4):c.263G>A (p.Gly88Asp) rs193302886
NM_001164277.2(SLC37A4):c.398A>C (p.Gln133Pro) rs193302896
NM_001164277.2(SLC37A4):c.526T>C (p.Cys176Arg) rs193302895
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del
NM_001165963.4(SCN1A):c.4910T>A (p.Val1637Glu) rs121918810
NM_001170698.2(SPATA22):c.253del (p.Ser85fs)
NM_001173467.3(SP7):c.1052del (p.Glu351fs) rs137853893
NM_001190.4(BCAT2):c.531+1G>A rs2122664642
NM_001199138.1(NLRC4):c.-1874C>A rs199475949
NM_001199138.2(NLRC4):c.-118-1G>A rs199476291
NM_001199138.2(NLRC4):c.2522-35A>T rs199476296
NM_001199138.2(NLRC4):c.2614+63A>G rs199475958
NM_001199138.2(NLRC4):c.2782+38G>C rs199476297
NM_001199138.2(NLRC4):c.2782+81C>T rs199476298
NM_001206927.2(DNAH8):c.11729T>G (p.Phe3910Cys) rs375158290
NM_001243133.2(NLRP3):c.2493-7A>T rs199475735
NM_001243133.2(NLRP3):c.3082dup (p.Val1028fs) rs199475738
NM_001243133.2(NLRP3):c.397+42T>C rs199475730
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_001252102.2(KIF21B):c.2959_2962dup (p.Asn988fs) rs1571930248
NM_001256067.2(NOXA1):c.870dup (p.Pro291fs) rs773184989
NM_001256789.3(CACNA1F):c.4128G>T (p.Glu1376Asp) rs137853906
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.11546C>T (p.Pro3849Leu) rs727503662
NM_001267550.2(TTN):c.36449-2A>G
NM_001267550.2(TTN):c.38278G>A (p.Glu12760Lys) rs794729419
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.45202GAG[1] (p.Glu15069del) rs794729435
NM_001267550.2(TTN):c.489dup (p.Ala164fs) rs1574990483
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.54812-14del rs770542364
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile) rs562856820
NM_001267550.2(TTN):c.58997_59009del (p.Ser19666fs) rs2050621917
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg) rs769525101
NM_001267550.2(TTN):c.76567_76568insAGA (p.Ile25522_Arg25523insLys) rs794729498
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.77356_77357delinsAT (p.Ala25786Ile) rs794729503
NM_001267550.2(TTN):c.81014_81016del (p.Ile27005del) rs794729509
NM_001267550.2(TTN):c.86497_86498del (p.Ala28833fs) rs794729518
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.99398A>C (p.Lys33133Thr) rs794729552
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln) rs1554078349
NM_001271862.2(PNLDC1):c.1069_1070delinsT (p.Lys357fs)
NM_001276700.2(NLRP6):c.1271C>A (p.Thr424Asn) rs199475806
NM_001276700.2(NLRP6):c.1940A>G (p.Gln647Arg) rs199475809
NM_001276700.2(NLRP6):c.2051AGA[4] (p.Lys688del) rs199476226
NM_001276700.2(NLRP6):c.2078G>A (p.Arg693Gln) rs199475810
NM_001276700.2(NLRP6):c.311-26G>T rs199475798
NM_001276700.2(NLRP6):c.311-42G>C rs199475797
NM_001282144.2(NLRX1):c.1473G>A (p.Val491=) rs199476045
NM_001282144.2(NLRX1):c.2144T>G (p.Val715Gly) rs199476049
NM_001282144.2(NLRX1):c.230-111C>T rs199476038
NM_001282144.2(NLRX1):c.230-92G>A rs199476039
NM_001282144.2(NLRX1):c.2355-79G>A rs199476051
NM_001282144.2(NLRX1):c.70+255G>A rs199476035
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg) rs2231495
NM_001282358.1(NLRX1):c.-462G>A rs199476026
NM_001282358.2(NLRX1):c.-154T>C rs199476028
NM_001282358.2(NLRX1):c.-49+134C>T rs199476030
NM_001282358.2(NLRX1):c.-49+235T>C rs199476031
NM_001291415.2(KDM6A):c.3095-1G>C rs2045273679
NM_001291415.2(KDM6A):c.4035-1G>A rs2148287574
NM_001291415.2(KDM6A):c.4035-2A>T
NM_001291415.2(KDM6A):c.4332+1G>A rs2148308441
NM_001291415.2(KDM6A):c.4332+1G>C rs2148308441
NM_001300.6(KLF6):c.103-1G>C rs2131099096
NM_001300.6(KLF6):c.677-2A>G rs2131095903
NM_001303037.2(PALS2):c.917del (p.Lys306fs) rs757450051
NM_001312673.2(PCYT1A):c.277G>A (p.Ala93Thr)
NM_001312673.2(PCYT1A):c.897+1G>A
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln) rs1163583945
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln) rs60687604
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) rs121909129
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp) rs121909130
NM_001320198.2(KRT86):c.340A>C (p.Asn114His) rs61091894
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp) rs61091894
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu) rs60612575
NM_001321075.3(DLG4):c.1516-1G>C
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.145+2T>C rs267608430
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2376+5G>A rs267608657
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.403+49_403+53del rs267608473
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.464-40_464-37del rs267608481
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.978-49_978-41del rs267608554
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001330078.2(NRXN1):c.2642A>C (p.Asp881Ala) rs2104919863
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_001330552.1(NLRC5):c.-1063G>A rs199475960
NM_001330552.1(NLRC5):c.-483G>A rs199475963
NM_001330552.1(NLRC5):c.-796C>G rs199475961
NM_001330701.2(AGTPBP1):c.410C>A (p.Ser137Tyr) rs1261208737
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001337.4(CX3CR1):c.785T>C (p.Phe262Ser) rs137854870
NM_001346022.3(USP45):c.1008del (p.Val337fs) rs554927779
NM_001346810.2(DLGAP2):c.2812C>A (p.Pro938Thr) rs753629996
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs) rs1555990946
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001349206.2(LPIN1):c.1714-1G>T rs2148674788
NM_001365999.1(SZT2):c.7358G>A (p.Cys2453Tyr) rs2153935675
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001366385.1(CARD14):c.413A>C (p.Glu138Ala) rs281875214
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) rs281875212
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) rs281875213
NM_001366385.1(CARD14):c.511C>A (p.His171Asn) rs281875216
NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn) rs114688446
NM_001366385.1(CARD14):c.854A>G (p.Asp285Gly) rs281875219
NM_001368894.2(PAX6):c.808-2A>C rs1554983251
NM_001369.3(DNAH5):c.6579+2T>C rs2151823499
NM_001369.3(DNAH5):c.8448+1G>A rs2126899484
NM_001369.3(DNAH5):c.986A>C (p.Glu329Ala) rs483353127
NM_001370259.2(MEN1):c.784-1G>T rs1555165377
NM_001370298.3(FGD4):c.501C>T (p.Gly167=)
NM_001370466.1(NOD2):c.*214T>C rs199475926
NM_001370466.1(NOD2):c.-8-2619C>A rs199475907
NM_001370466.1(NOD2):c.-9+2758A>G rs199475906
NM_001370466.1(NOD2):c.2466-41G>A rs199475920
NM_001370466.1(NOD2):c.950C>T (p.Ser317Phe) rs199475912
NM_001371596.2(MFSD8):c.1350G>A (p.Gln450=) rs796052738
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001374828.1(ARID1B):c.3235G>T (p.Ala1079Ser) rs1583439000
NM_001374828.1(ARID1B):c.5263+1G>T rs2128377544
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu) rs63750959
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr) rs63750129
NM_001377265.1(MAPT):c.1954A>G (p.Ile652Val) rs63751249
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) rs63750376
NM_001377265.1(MAPT):c.1999-10G>T rs63749974
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2028T>C (p.Leu676=) rs63751423
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del) rs63751392
NM_001377265.1(MAPT):c.2062A>C (p.Asn688His) rs63750416
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) rs63751438
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val) rs63751391
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) rs63751165
NM_001377265.1(MAPT):c.2091+11T>C rs63751394
NM_001377265.1(MAPT):c.2091+12C>T rs63750916
NM_001377265.1(MAPT):c.2091+13A>G rs63750308
NM_001377265.1(MAPT):c.2091+14C>T rs63750972
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2091+3G>A rs63750013
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=) rs63750568
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg) rs63749855
NM_001377265.1(MAPT):c.2121G>A (p.Leu707=) rs63751231
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met) rs63750092
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) rs63750635
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser) rs63750095
NM_001377265.1(MAPT):c.2180G>T (p.Gly727Val) rs63750905
NM_001377265.1(MAPT):c.2183A>G (p.Gln728Arg) rs63750573
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) rs63750570
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) rs63750711
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) rs63751264
NM_001377265.1(MAPT):c.2341G>C (p.Gly781Arg) rs63750512
NM_001377299.1(NDUFS2):c.1116G>A (p.Lys372=)
NM_001377299.1(NDUFS2):c.96-2A>G rs1665273085
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_001378477.3(NYX):c.1025T>C (p.Leu342Pro) rs62637036
NM_001378477.3(NYX):c.1094G>T (p.Gly365Val) rs62637038
NM_001378477.3(NYX):c.325_339del (p.Glu109_Ala113del) rs63749061
NM_001378477.3(NYX):c.412G>C (p.Ala138Pro) rs62637023
NM_001378477.3(NYX):c.437C>T (p.Pro146Leu) rs62637024
NM_001378477.3(NYX):c.509C>G (p.Pro170Arg) rs62637025
NM_001378477.3(NYX):c.536T>C (p.Leu179Pro) rs62637026
NM_001378477.3(NYX):c.623T>A (p.Leu208Gln) rs62637028
NM_001378477.3(NYX):c.632A>T (p.Asn211Ile) rs62637029
NM_001378477.3(NYX):c.680T>C (p.Leu227Pro) rs62637030
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194
NM_001378477.3(NYX):c.717_728del (p.Glu239_Ala242del) rs63749062
NM_001378477.3(NYX):c.777C>G (p.Asn259Lys) rs62637032
NM_001378477.3(NYX):c.77G>C (p.Cys26Ser) rs62637020
NM_001378477.3(NYX):c.839T>C (p.Leu280Pro) rs62637033
NM_001378477.3(NYX):c.878T>C (p.Phe293Ser) rs62637034
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter) rs62637021
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001378743.1(CYLD):c.2686+1G>A rs2151039787
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp) rs121912609
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser) rs121912610
NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile) rs281875282
NM_001382391.1(CSPP1):c.1698-2A>G rs2129554174
NM_001384950.1(NLRC5):c.1625C>A (p.Thr542Asn) rs199475974
NM_001384950.1(NLRC5):c.2009A>C (p.Asp670Ala) rs199475975
NM_001384950.1(NLRC5):c.2076-29C>T rs199475978
NM_001384950.1(NLRC5):c.2418-199T>A rs199475980
NM_001384950.1(NLRC5):c.2477+55C>G rs199475982
NM_001384950.1(NLRC5):c.2712-121G>C rs199475983
NM_001384950.1(NLRC5):c.2754G>A (p.Val918=) rs199475985
NM_001384950.1(NLRC5):c.2870+353T>C rs199475986
NM_001384950.1(NLRC5):c.2871-27A>C rs199475987
NM_001384950.1(NLRC5):c.296-29A>C rs199475966
NM_001384950.1(NLRC5):c.3248+56T>A rs199475991
NM_001384950.1(NLRC5):c.356-88G>A rs199475968
NM_001384950.1(NLRC5):c.3596+42T>A rs199475999
NM_001384950.1(NLRC5):c.3987-248C>T rs199476002
NM_001384950.1(NLRC5):c.4500-121G>A rs199476009
NM_001384950.1(NLRC5):c.4752-73G>A rs199476011
NM_001384950.1(NLRC5):c.5004-59G>C rs199476015
NM_001384950.1(NLRC5):c.5251A>G (p.Lys1751Glu) rs199476019
NM_001384950.1(NLRC5):c.847A>G (p.Ser283Gly) rs199475972
NM_001384950.1(NLRC5):c.856T>G (p.Ser286Ala) rs1555520385
NM_001385.3(DPYS):c.1307T>C (p.Val436Ala) rs672601292
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001386140.1(MTTP):c.787G>A (p.Ala263Thr) rs755170053
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys) rs1056234449
NM_001389.5(DSCAM):c.2487C>G (p.Asn829Lys)
NM_001391958.1(NLRP10):c.1873_1875del (p.Lys625del) rs199476233
NM_001393586.1(MYO7B):c.6106G>C (p.Ala2036Pro) rs201927307
NM_001394198.1(ZNF746):c.1971_1973del (p.Gly658del) rs762954082
NM_001394531.1(WDFY4):c.8253C>A (p.Asn2751Lys) rs767111707
NM_001394894.2(NLRP11):c.150A>G (p.Glu50=) rs199475860
NM_001394894.2(NLRP11):c.2343-32A>G rs199476240
NM_001394962.1(KIAA1210):c.577T>G (p.Ser193Ala) rs369956899
NM_001429.4(EP300):c.1528+2T>C rs2145715940
NM_001429.4(EP300):c.4453-2A>G rs2145769929
NM_001429.4(EP300):c.4617+1G>A
NM_001444.3(FABP5):c.279A>G (p.Ala93=) rs431905489
NM_001446.5(FABP7):c.239del (p.Asn80fs) rs431905492
NM_001447.3(FAT2):c.7064G>A (p.Gly2355Glu)
NM_001452.2(FOXF2):c.899C>G (p.Ala300Gly) rs587777898
NM_001482.3(GATM):c.306G>C (p.Lys102Asn) rs376335787
NM_001482.3(GATM):c.314C>T (p.Pro105Leu) rs147804855
NM_001482.3(GATM):c.541G>A (p.Glu181Lys) rs376982466
NM_001482.3(GATM):c.68G>A (p.Arg23Gln) rs370155767
NM_001572.5(IRF7):c.1146A>C (p.Gly382=) rs1061505
NM_001572.5(IRF7):c.184-4_184-3delinsAA rs386749598
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.364A>G (p.Ile122Val) rs281875330
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) rs281875327
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001641.3(APEX1):c.-326G>A rs104894986
NM_001702.3(ADGRB1):c.2696dup (p.Gln900fs) rs1554616325
NM_001713.3(BHMT):c.1200del (p.Lys400fs) rs763726268
NM_001715.3(BLK):c.8T>C (p.Leu3Pro)
NM_001754.5(RUNX1):c.508+1G>C rs1601515718
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del) rs527236145
NM_001855.5(COL15A1):c.12-6T>G rs2118725299
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001876.4(CPT1A):c.2236-1G>T rs1555226004
NM_001904.4(CTNNB1):c.768T>G (p.Ile256Met) rs2078159405
NM_001916.5(CYC1):c.456_461dupGGAGGT rs762080014
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) rs58898021
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) rs58409037
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1099A>T (p.Ile367Phe) rs62636494
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.1126C>T (p.His376Tyr) rs57404866
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1175T>C (p.Leu392Pro) rs62636493
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) rs57694264
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1217G>T (p.Arg406Leu) rs1057520275
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1370A>T (p.Glu457Val) rs267607496
NM_001927.4(DES):c.1379G>T (p.Ser460Ile) rs267607491
NM_001927.4(DES):c.137C>A (p.Ser46Tyr) rs60794845
NM_001927.4(DES):c.137C>T (p.Ser46Phe) rs60794845
NM_001927.4(DES):c.1405G>A (p.Val469Met) rs267607487
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.338_339del (p.Gln113fs) rs267607497
NM_001927.4(DES):c.340_342del (p.Glu114del) rs267607493
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.640-1G>A rs267607484
NM_001927.4(DES):c.640-2A>G rs267607492
NM_001927.4(DES):c.723dup (p.Val242fs) rs57659464
NM_001927.4(DES):c.735+2_735+11del rs267607489
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001927.4(DES):c.821T>C (p.Leu274Pro) rs267607494
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494
NM_001983.4(ERCC1):c.106-83G>A rs104894993
NM_001983.4(ERCC1):c.774+64C>T rs104894989
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala) rs867228
NM_002029.4(FPR1):c.576T>C (p.Asn192=) rs1042229
NM_002037.5(FYN):c.862+530G>A rs367543109
NM_002037.5(FYN):c.944C>G (p.Ala315Gly) rs367543108
NM_002055.5(GFAP):c.*32C>G rs267607669
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro) rs28932769
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) rs267607515
NM_002055.5(GFAP):c.1075C>G (p.Leu359Val) rs60825166
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro) rs267607511
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val) rs62636501
NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp) rs121909718
NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro) rs58645997
NM_002055.5(GFAP):c.1091C>T (p.Ala364Val) rs267607503
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His) rs58008462
NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys) rs267607502
NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln) rs267607526
NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly) rs57815192
NM_002055.5(GFAP):c.1112A>T (p.Glu371Val) rs57815192
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys) rs58075601
NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln) rs58075601
NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly) rs59628143
NM_002055.5(GFAP):c.1126C>G (p.Arg376Gly) rs267607512
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp) rs267607512
NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile) rs267607517
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) rs61726471
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) rs62635764
NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr) rs267607508
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala) rs267607520
NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu) rs267607521
NM_002055.5(GFAP):c.187A>C (p.Lys63Gln) rs60095124
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) rs60343255
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.211G>A (p.Ala71Thr) rs267607522
NM_002055.5(GFAP):c.214G>A (p.Glu72Lys) rs267607523
NM_002055.5(GFAP):c.218T>A (p.Met73Lys) rs61060395
NM_002055.5(GFAP):c.218T>G (p.Met73Arg) rs61060395
NM_002055.5(GFAP):c.221T>C (p.Met74Thr) rs267607504
NM_002055.5(GFAP):c.226C>G (p.Leu76Val) rs57120761
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe) rs57120761
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr) rs58732244
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) rs57590980
NM_002055.5(GFAP):c.235C>A (p.Arg79Ser) rs59793293
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly) rs59793293
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys) rs59793293
NM_002055.5(GFAP):c.236G>A (p.Arg79His) rs59285727
NM_002055.5(GFAP):c.236G>C (p.Arg79Pro) rs59285727
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) rs59285727
NM_002055.5(GFAP):c.247T>C (p.Tyr83His) rs267607506
NM_002055.5(GFAP):c.248A>C (p.Tyr83Ser) rs58454592
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe) rs267607501
NM_002055.5(GFAP):c.257A>G (p.Lys86Arg) rs267607524
NM_002055.5(GFAP):c.259G>C (p.Val87Leu) rs267607518
NM_002055.5(GFAP):c.260T>G (p.Val87Gly) rs60449251
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser) rs61622935
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935
NM_002055.5(GFAP):c.269T>C (p.Leu90Pro) rs59661476
NM_002055.5(GFAP):c.290T>C (p.Leu97Pro) rs59568967
NM_002055.5(GFAP):c.302T>C (p.Leu101Pro) rs267607516
NM_002055.5(GFAP):c.343G>T (p.Val115Phe) rs56746197
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002055.5(GFAP):c.523-76G>C rs267607668
NM_002055.5(GFAP):c.523-9C>G rs267607666
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) rs267607507
NM_002055.5(GFAP):c.619G>A (p.Glu207Lys) rs267607500
NM_002055.5(GFAP):c.619G>C (p.Glu207Gln) rs267607500
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) rs57661783
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro) rs60269890
NM_002055.5(GFAP):c.707A>C (p.Lys236Thr) rs267607525
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002055.5(GFAP):c.716G>A (p.Arg239His) rs59565950
NM_002055.5(GFAP):c.716G>C (p.Arg239Pro) rs59565950
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu) rs59565950
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) rs60551555
NM_002055.5(GFAP):c.731C>T (p.Ala244Val) rs61497286
NM_002055.5(GFAP):c.739T>C (p.Ser247Pro) rs267607519
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) rs61726470
NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys) rs267607505
NM_002055.5(GFAP):c.773G>C (p.Arg258Pro) rs61726468
NM_002055.5(GFAP):c.780+646G>A rs267607667
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) rs121909719
NM_002055.5(GFAP):c.835A>G (p.Lys279Glu) rs58536923
NM_002055.5(GFAP):c.988C>G (p.Arg330Gly) rs267607513
NM_002055.5(GFAP):c.992T>C (p.Leu331Pro) rs59985777
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys) rs267607514
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.4(GRN):c.-8+3A>T rs63751020
NM_002087.4(GRN):c.-8+5G>C rs63750313
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter) rs63751406
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.1095_1096del (p.Pro365_Cys366insTer) rs63749988
NM_002087.4(GRN):c.1157G>A (p.Trp386Ter) rs63751213
NM_002087.4(GRN):c.1201C>T (p.Gln401Ter) rs63750118
NM_002087.4(GRN):c.1231_1232del (p.Val411fs) rs63750351
NM_002087.4(GRN):c.1231_1232dup (p.Val411_Ala412insTer) rs63750351
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.138+1G>A rs63749844
NM_002087.4(GRN):c.1395dup (p.Cys466fs) rs63749951
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) rs63749908
NM_002087.4(GRN):c.1422C>T (p.Cys474=) rs63751470
NM_002087.4(GRN):c.154del (p.Thr52fs) rs63751092
NM_002087.4(GRN):c.158T>C (p.Leu53Pro) rs63750481
NM_002087.4(GRN):c.1623G>C (p.Trp541Cys) rs63751060
NM_002087.4(GRN):c.1666C>T (p.Arg556Cys) rs63750116
NM_002087.4(GRN):c.234_235del (p.Gly79fs) rs63750373
NM_002087.4(GRN):c.243del (p.Ser82fs) rs63751193
NM_002087.4(GRN):c.264G>A (p.Glu88=) rs63751166
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.313T>C (p.Cys105Arg) rs63750441
NM_002087.4(GRN):c.317G>A (p.Ser106Asn) rs63750202
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.361del (p.Val121fs) rs63749940
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002087.4(GRN):c.380_381del (p.Pro127fs) rs63750405
NM_002087.4(GRN):c.384_387del (p.Gln130fs) rs63750768
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.3G>A (p.Met1Ile) rs63750331
NM_002087.4(GRN):c.463-1G>A rs63750536
NM_002087.4(GRN):c.468_474del (p.Cys157fs) rs63750247
NM_002087.4(GRN):c.63_64insC (p.Asp22fs) rs63750981
NM_002087.4(GRN):c.658A>T (p.Thr220Ser) rs63750683
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.708+1G>C rs63749817
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) rs63750344
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) rs63751000
NM_002087.4(GRN):c.781C>A (p.Leu261Ile) rs63750435
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.835_835+1insCTGA rs63750976
NM_002087.4(GRN):c.836-1G>C rs63751296
NM_002087.4(GRN):c.87_90dup (p.Cys31fs) rs63751057
NM_002087.4(GRN):c.909del (p.Trp304fs) rs63750366
NM_002087.4(GRN):c.910_911insTG (p.Trp304fs) rs63751239
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) rs63751177
NM_002087.4(GRN):c.933+1G>A rs63750707
NM_002087.4(GRN):c.942C>A (p.Cys314Ter) rs63750926
NM_002087.4(GRN):c.996G>A (p.Lys332=) rs63750785
NM_002087.4(GRN):c.998del (p.Gly333fs) rs63750873
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002192.4(INHBA):c.1050C>G (p.Cys350Trp) rs1562565534
NM_002272.4(KRT4):c.638_639insACA (p.Leu213_Lys214insGln) rs267607432
NM_002273.4(KRT8):c.1261+11del rs267607664
NM_002273.4(KRT8):c.1261+20G>A rs267607665
NM_002273.4(KRT8):c.77C>G (p.Thr26Arg) rs57286292
NM_002276.5(KRT19):c.179C>G (p.Ala60Gly) rs4602
NM_002276.5(KRT19):c.685G>A (p.Val229Met) rs267607654
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys) rs56821304
NM_002291.3(LAMB1):c.4746-2A>C rs2116319489
NM_002332.3(LRP1):c.10129G>A (p.Gly3377Arg) rs1555187467
NM_002332.3(LRP1):c.10277G>C (p.Cys3426Ser) rs1592657298
NM_002373.6(MAP1A):c.3571C>G (p.Pro1191Ala) rs2079336838
NM_002386.4(MC1R):c.575T>C (p.Leu192Pro) rs587783375
NM_002485.5(NBN):c.-40C>T rs730881843
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.1579G>T (p.Asp527Tyr) rs104895031
NM_002485.5(NBN):c.172-529G>A rs104895039
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.818C>G (p.Thr273Arg) rs1554563912
NM_002489.4(NDUFA4):c.77C>T (p.Ala26Val) rs587776505
NM_002495.4(NDUFS4):c.350+1G>A rs1260453815
NM_002610.5(PDK1):c.589C>G (p.Gln197Glu) rs2149209671
NM_002615.7(SERPINF1):c.1132C>T (p.Gln378Ter) rs193302873
NM_002615.7(SERPINF1):c.324_325dup (p.Tyr109fs) rs193302871
NM_002615.7(SERPINF1):c.696C>G (p.Tyr232Ter) rs193302872
NM_002691.4(POLD1):c.1243-3C>G rs1555791075
NM_002691.4(POLD1):c.1481T>A (p.Ile494Asn) rs1601217092
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2251-1G>T rs1060501808
NM_002691.4(POLD1):c.2389-2A>T rs1601240740
NM_002709.3(PPP1CB):c.10G>A (p.Gly4Arg) rs367543173
NM_002709.3(PPP1CB):c.6G>A (p.Ala2=) rs367543172
NM_002710.4(PPP1CC):c.6G>T (p.Ala2=) rs367543177
NM_002739.5(PRKCG):c.1948G>T (p.Ala650Ser) rs367543220
NM_002739.5(PRKCG):c.683T>C (p.Val228Ala) rs367543209
NM_002739.5(PRKCG):c.807G>A (p.Ala269=) rs367543211
NM_002739.5(PRKCG):c.862G>A (p.Val288Met) rs367543213
NM_002775.5(HTRA1):c.472+4990G>T rs2284665
NM_002880.4(RAF1):c.278C>T (p.Pro93Leu) rs1559438381
NM_002936.6(RNASEH1):c.298C>T (p.Arg100Cys)
NM_002972.4(SBF1):c.5583+3G>C
NM_003010.4(MAP2K4):c.1087-1G>C rs2151599700
NM_003038.5(SLC1A4):c.1034+2T>C
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2264A>G (p.Lys755Arg) rs281875203
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile) rs281875191
NM_003070.5(SMARCA2):c.2551G>C (p.Asp851His) rs281875206
NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys) rs281875199
NM_003070.5(SMARCA2):c.2556A>C (p.Glu852Asp) rs281875193
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003070.5(SMARCA2):c.2641G>C (p.Gly881Arg) rs281875194
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.2837T>C (p.Leu946Ser) rs281875200
NM_003070.5(SMARCA2):c.2838A>T (p.Leu946Phe) rs281875205
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3404T>C (p.Leu1135Pro) rs281875195
NM_003070.5(SMARCA2):c.3436A>C (p.Ser1146Arg) rs281875204
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3562G>C (p.Ala1188Pro) rs281875196
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3614A>G (p.Asp1205Gly) rs281875201
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003072.5(SMARCA4):c.2438+1G>T rs1555774786
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2617-1G>A rs1600277713
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003072.5(SMARCA4):c.3547-2A>G rs2146647632
NM_003072.5(SMARCA4):c.3952-1G>C rs1600405252
NM_003072.5(SMARCA4):c.4171-2A>G rs2146812598
NM_003073.5(SMARCB1):c.362+1G>C rs1568937197
NM_003073.5(SMARCB1):c.500+1G>A rs1601402001
NM_003074.4(SMARCC1):c.2376+2T>C rs1576395533
NM_003076.5(SMARCD1):c.1134-1G>A
NM_003079.5(SMARCE1):c.715-1G>A rs2143987097
NM_003157.6(NEK4):c.460C>T (p.Arg154Ter)
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13)
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.932+136C>T rs587776396
NM_003242.6(TGFBR2):c.1254+2T>G rs2125437180
NM_003242.6(TGFBR2):c.1396+1G>A rs528566980
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) rs104894312
NM_003282.4(TNNI2):c.496GAG[1] (p.Glu167del) rs199474800
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln) rs104894311
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del) rs199474801
NM_003283.6(TNNT1):c.388-1G>A rs2147247715
NM_003283.6(TNNT1):c.792-278C>A rs891185
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_003289.4(TPM2):c.154_156dup (p.Gly52dup) rs199476148
NM_003289.4(TPM2):c.240+2T>G rs113967290
NM_003289.4(TPM2):c.240+4_240+7del rs199476149
NM_003289.4(TPM2):c.240+5G>A rs199476150
NM_003289.4(TPM2):c.271C>G (p.Arg91Gly) rs104894127
NM_003289.4(TPM2):c.278A>G (p.Gln93Arg) rs199476151
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003289.4(TPM2):c.398G>C (p.Arg133Pro) rs199476152
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.5A>T (p.Asp2Val) rs199476145
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_003289.4(TPM2):c.628C>T (p.Gln210Ter) rs199476154
NM_003289.4(TPM2):c.651AGA[1] (p.Glu218del) rs199476156
NM_003289.4(TPM2):c.699G>T (p.Lys233Asn) rs1804558
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.350-2_350del rs281865167
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del) rs281865169
NM_003322.6(TULP1):c.719-19T>A rs281865170
NM_003322.6(TULP1):c.734C>T (p.Ala245Val) rs62636707
NM_003322.6(TULP1):c.805A>C (p.Lys269Gln) rs62636514
NM_003322.6(TULP1):c.823-4A>C rs200264819
NM_003322.6(TULP1):c.901del (p.Gln301fs) rs62636292
NM_003322.6(TULP1):c.99+1G>A rs281865166
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003337.4(UBE2B):c.23G>C (p.Arg8Thr) rs367537996
NM_003368.5(USP1):c.1985del (p.Asn662fs) rs751218576
NM_003466.4(PAX8):c.165T>G (p.His55Gln) rs121908742
NM_003470.3(USP7):c.675G>A (p.Met225Ile) rs1555465642
NM_003482.4(KMT2D):c.14383-1G>A rs2120379704
NM_003482.4(KMT2D):c.14644-1G>A rs2120371733
NM_003482.4(KMT2D):c.16521+1G>T rs2137703466
NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_003482.4(KMT2D):c.5645-1G>A rs2120560982
NM_003482.4(KMT2D):c.5783-1G>C rs2120558174
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del) rs121908938
NM_003620.4(PPM1D):c.1437dup (p.Lys480Ter) rs769754801
NM_003937.3(KYNU):c.374-2A>G rs893482697
NM_004035.7(ACOX1):c.1728+2T>G
NM_004064.5(CDKN1B):c.475+1G>A rs1174921391
NM_004064.5(CDKN1B):c.476-1G>C rs2136357231
NM_004092.4(ECHS1):c.287-2A>G rs2133442721
NM_004092.4(ECHS1):c.515-1G>T rs2133440653
NM_004102.5(FABP3):c.246+25del rs431905487
NM_004102.5(FABP3):c.349-14_349-13del rs483352875
NM_004102.5(FABP3):c.349-19A>G rs431905488
NM_004102.5(FABP3):c.395del (p.Glu132fs) rs483352865
NM_004168.4(SDHA):c.1064+1G>A rs1579402807
NM_004183.4(BEST1):c.1026G>A (p.Glu342=) rs281865282
NM_004183.4(BEST1):c.1470_1471del (p.His490fs) rs281865528
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala) rs281865283
NM_004183.4(BEST1):c.16A>C (p.Thr6Pro) rs28940275
NM_004183.4(BEST1):c.173A>T (p.Gln58Leu) rs281865529
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.217A>C (p.Ile73Leu) rs281865220
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.244C>G (p.Leu82Val) rs281865530
NM_004183.4(BEST1):c.248-12C>T rs62639351
NM_004183.4(BEST1):c.248-32C>T rs62639352
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.25G>A (p.Val9Met) rs28940276
NM_004183.4(BEST1):c.26T>C (p.Val9Ala) rs281865205
NM_004183.4(BEST1):c.272C>T (p.Thr91Ile) rs281865223
NM_004183.4(BEST1):c.274C>T (p.Arg92Cys) rs281865224
NM_004183.4(BEST1):c.275G>A (p.Arg92His) rs281865225
NM_004183.4(BEST1):c.279G>C (p.Trp93Cys) rs28940273
NM_004183.4(BEST1):c.288G>C (p.Gln96His) rs281865226
NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) rs281865206
NM_004183.4(BEST1):c.297C>A (p.Asn99Lys) rs281865227
NM_004183.4(BEST1):c.299T>G (p.Leu100Arg) rs281865228
NM_004183.4(BEST1):c.29C>T (p.Ala10Val) rs281865207
NM_004183.4(BEST1):c.301C>A (p.Pro101Thr) rs281865229
NM_004183.4(BEST1):c.304T>C (p.Trp102Arg) rs281865230
NM_004183.4(BEST1):c.310G>C (p.Asp104His) rs281865231
NM_004183.4(BEST1):c.312C>A (p.Asp104Glu) rs281865232
NM_004183.4(BEST1):c.32A>T (p.Asn11Ile) rs281865208
NM_004183.4(BEST1):c.403G>A (p.Gly135Ser) rs281865234
NM_004183.4(BEST1):c.419T>G (p.Leu140Arg) rs281865235
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys) rs1800995
NM_004183.4(BEST1):c.445A>T (p.Lys149Ter) rs281865274
NM_004183.4(BEST1):c.47C>T (p.Ser16Phe) rs281865210
NM_004183.4(BEST1):c.50T>G (p.Phe17Cys) rs281865211
NM_004183.4(BEST1):c.61C>G (p.Leu21Val) rs281865212
NM_004183.4(BEST1):c.626G>A (p.Ser209Asn) rs281865237
NM_004183.4(BEST1):c.636+1G>C rs62637337
NM_004183.4(BEST1):c.652C>A (p.Arg218Ser) rs281865238
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.654T>C (p.Arg218=) rs281865280
NM_004183.4(BEST1):c.663T>G (p.Cys221Trp) rs281865240
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.670C>A (p.Leu224Met) rs281865242
NM_004183.4(BEST1):c.671T>C (p.Leu224Pro) rs281865243
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) rs28941469
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) rs267606677
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.703G>A (p.Val235Met) rs281865245
NM_004183.4(BEST1):c.703G>C (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.710C>G (p.Thr237Arg) rs281865246
NM_004183.4(BEST1):c.720G>C (p.Val240=) rs281865281
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn) rs281865247
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.72G>T (p.Trp24Cys) rs281865213
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) rs281865214
NM_004183.4(BEST1):c.81C>G (p.Ser27Arg) rs281865216
NM_004183.4(BEST1):c.828C>G (p.Phe276Leu) rs281865248
NM_004183.4(BEST1):c.842TCT[2] (p.Phe283del) rs281865532
NM_004183.4(BEST1):c.85T>C (p.Tyr29His) rs281865217
NM_004183.4(BEST1):c.877C>A (p.Gln293Lys) rs281865250
NM_004183.4(BEST1):c.87C>T (p.Tyr29=) rs121918285
NM_004183.4(BEST1):c.880C>G (p.Leu294Val) rs281865251
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.884T>C (p.Ile295Thr) rs281865253
NM_004183.4(BEST1):c.886A>C (p.Asn296His) rs281865254
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_004183.4(BEST1):c.889C>G (p.Pro297Ala) rs1805143
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser) rs281865257
NM_004183.4(BEST1):c.896G>A (p.Gly299Glu) rs28941468
NM_004183.4(BEST1):c.898G>A (p.Glu300Lys) rs281865258
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp) rs1805144
NM_004183.4(BEST1):c.901G>A (p.Asp301Asn) rs281865259
NM_004183.4(BEST1):c.901GAT[3] (p.Asp304del) rs281865260
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu) rs281865261
NM_004183.4(BEST1):c.904G>C (p.Asp302His) rs281865262
NM_004183.4(BEST1):c.905A>G (p.Asp302Gly) rs281865263
NM_004183.4(BEST1):c.905A>T (p.Asp302Val) rs281865263
NM_004183.4(BEST1):c.909T>A (p.Asp303Glu) rs281865264
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser) rs281865265
NM_004183.4(BEST1):c.917A>G (p.Glu306Gly) rs281865266
NM_004183.4(BEST1):c.918G>C (p.Glu306Asp) rs281865267
NM_004183.4(BEST1):c.919A>G (p.Thr307Ala) rs281865268
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile) rs281865269
NM_004183.4(BEST1):c.923A>G (p.Asn308Ser) rs281865270
NM_004183.4(BEST1):c.929T>C (p.Ile310Thr) rs281865271
NM_004183.4(BEST1):c.949-21del rs62640560
NM_004187.5(KDM5C):c.3120+2T>C
NM_004260.4(RECQL4):c.1258+3G>C
NM_004260.4(RECQL4):c.2201-2A>T rs2130681102
NM_004260.4(RECQL4):c.355-1G>C
NM_004265.4(FADS2):c.208-2713_208-2692del rs66698963
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val) rs1553217993
NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup) rs1562956929
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) rs397516894
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1936+1G>A rs2152138630
NM_004360.5(CDH1):c.1936+1G>T rs2152138630
NM_004360.5(CDH1):c.2090A>G (p.Lys697Arg) rs1961233865
NM_004360.5(CDH1):c.687+1G>T rs1567504977
NM_004360.5(CDH1):c.688-2A>G rs2152130983
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004380.3(CREBBP):c.4134-1G>A rs886041048
NM_004380.3(CREBBP):c.4395-2A>T rs2151330226
NM_004393.6(DAG1):c.-116-291T>G rs7622302
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004415.4(DSP):c.1292dup (p.Tyr431Ter) rs786204293
NM_004415.4(DSP):c.5510A>G (p.Asn1837Ser) rs2113698012
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_004453.4(ETFDH):c.684+1G>T
NM_004456.5(EZH2):c.2195+1G>A
NM_004500.4(HNRNPC):c.850_876del (p.Arg284_Asp292del) rs1284488942
NM_004530.6(MMP2):c.1217G>A (p.Gly406Asp) rs121908741
NM_004545.4(NDUFB1):c.140+5G>A rs1251993950
NM_004568.6(SERPINB6):c.730-1G>T rs1223476137
NM_004588.5(SCN2B):c.-18_-14delinsCTGTGCATT rs1948469133
NM_004628.5(XPC):c.1872+2T>C rs2125024504
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.6(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004656.4(BAP1):c.1251-1G>C rs1578221396
NM_004656.4(BAP1):c.660-2A>G rs1559589809
NM_004656.4(BAP1):c.932-1G>T rs9848343
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) rs137853969
NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro) rs281875283
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile) rs281875284
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) rs104893848
NM_004765.4(BCL7C):c.528+3G>C
NM_004830.4(MED23):c.2427-1G>A
NM_004830.4(MED23):c.2779-1G>C
NM_004830.4(MED23):c.3472-1G>T rs2114591980
NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln) rs1558285391
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys) rs587777893
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys) rs587777900
NM_004958.4(MTOR):c.7576G>A (p.Glu2526Lys) rs1641671309
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1108T>C (p.Trp370Arg) rs886041743
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) rs1569017143
NM_004975.4(KCNB1):c.1133T>C (p.Val378Ala) rs1984250089
NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) rs587777850
NM_004975.4(KCNB1):c.1141G>A (p.Gly381Arg)
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1173A>C (p.Lys391Asn)
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) rs1984242860
NM_004975.4(KCNB1):c.1599C>A (p.Tyr533Ter)
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe) rs1060499607
NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys) rs1555889162
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.820dup (p.Tyr274fs) rs886041617
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004975.4(KCNB1):c.990G>C (p.Glu330Asp) rs1131691489
NM_004992.4(MECP2):c.26+2T>A rs267608409
NM_004996.4(ABCC1):c.1678-34G>A rs483352863
NM_004996.4(ABCC1):c.3139T>G (p.Cys1047Gly) rs483352862
NM_004996.4(ABCC1):c.3391-99G>A rs483352861
NM_004996.4(ABCC1):c.4551G>A (p.Gln1517=) rs587783374
NM_004996.4(ABCC1):c.809+16C>T rs483352864
NM_004996.4(ABCC1):c.855G>A (p.Pro285=) rs587783372
NM_005013.2(NUCB2):c.-427A>C rs186174
NM_005015.3(OXA1L):c.159dup (p.Ala54Serfs) rs559124780
NM_005040.4(PRCP):c.1290C>A (p.Asp430Glu)
NM_005084.4(PLA2G7):c.275G>A (p.Arg92His) rs1805017
NM_005094.4(SLC27A4):c.13G>T (p.Ala5Ser) rs587776375
NM_005094.4(SLC27A4):c.1440G>A (p.Lys480=) rs587776382
NM_005094.4(SLC27A4):c.1462+25C>T rs587776383
NM_005094.4(SLC27A4):c.1575C>T (p.Leu525=) rs587776373
NM_005094.4(SLC27A4):c.1881G>A (p.Pro627=) rs587776385
NM_005094.4(SLC27A4):c.513C>G (p.Thr171=) rs587776377
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala) rs900013674
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005222.4(DLX6):c.258CCA[5] (p.His91del) rs746036175
NM_005235.3(ERBB4):c.2524C>T (p.Arg842Trp) rs1240072004
NM_005236.3(ERCC4):c.1811+2C>A
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs) rs431825172
NM_005359.6(SMAD4):c.-39T>A rs1057523754
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1447+1G>C rs377767387
NM_005359.6(SMAD4):c.1447+2T>C rs1060500740
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005382.2(NEFM):c.1420A>G (p.Thr474Ala) rs59853292
NM_005382.2(NEFM):c.2263G>T (p.Val755Leu) rs57294395
NM_005382.2(NEFM):c.2487_2489del (p.Val830del) rs58277456
NM_005393.3(PLXNB3):c.3005G>A (p.Arg1002His) rs868912528
NM_005431.2(XRCC2):c.794T>G (p.Leu265Ter) rs771671971
NM_005522.5(HOXA1):c.215A>C (p.His72Pro) rs587777901
NM_005534.4(IFNGR2):c.207-223A>G rs121913196
NM_005534.4(IFNGR2):c.207-407_207-406insATT rs121913195
NM_005534.4(IFNGR2):c.337C>T (p.Leu113=) rs121913200
NM_005534.4(IFNGR2):c.413-310A>C rs121913201
NM_005534.4(IFNGR2):c.413-53_413-48del rs137854906
NM_005534.4(IFNGR2):c.413-89AT[6] rs121913204
NM_005534.4(IFNGR2):c.780G>T (p.Ser260=) rs121913217
NM_005534.4(IFNGR2):c.880-135_880-113dup rs121913218
NM_005554.4(KRT6A):c.1303C>T (p.Gln435Ter) rs267607467
NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys) rs267607468
NM_005554.4(KRT6A):c.1381G>C (p.Glu461Gln) rs267607468
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn) rs57629991
NM_005554.4(KRT6A):c.1385T>G (p.Ile462Ser) rs57629991
NM_005554.4(KRT6A):c.1387G>C (p.Ala463Pro) rs267607462
NM_005554.4(KRT6A):c.1390A>C (p.Thr464Pro) rs61293647
NM_005554.4(KRT6A):c.1393T>C (p.Tyr465His) rs267607463
NM_005554.4(KRT6A):c.1394A>G (p.Tyr465Cys) rs267607469
NM_005554.4(KRT6A):c.1403T>A (p.Leu468Gln) rs59018888
NM_005554.4(KRT6A):c.1403T>C (p.Leu468Pro) rs59018888
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) rs57052654
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) rs57052654
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005554.4(KRT6A):c.1416G>C (p.Glu472Asp) rs267607470
NM_005554.4(KRT6A):c.1511dup (p.Ser505fs) rs267607471
NM_005554.4(KRT6A):c.487G>A (p.Glu163Lys) rs267607464
NM_005554.4(KRT6A):c.491G>C (p.Arg164Pro) rs62635293
NM_005554.4(KRT6A):c.497A>C (p.Gln166Pro) rs267607460
NM_005554.4(KRT6A):c.500T>A (p.Ile167Asn) rs57126929
NM_005554.4(KRT6A):c.500T>G (p.Ile167Ser) rs57126929
NM_005554.4(KRT6A):c.508C>T (p.Leu170Phe) rs57448541
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) rs62635294
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr) rs62635294
NM_005554.4(KRT6A):c.512A>C (p.Asn171Thr) rs58556099
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) rs28933087
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) rs61145796
NM_005554.4(KRT6A):c.521T>G (p.Phe174Cys) rs61145796
NM_005554.4(KRT6A):c.526T>C (p.Ser176Pro) rs59642296
NM_005554.4(KRT6A):c.533T>A (p.Ile178Asn) rs267607461
NM_005554.4(KRT6A):c.541-1G>C rs267607465
NM_005554.4(KRT6A):c.541-1G>T rs267607465
NM_005554.4(KRT6A):c.541-2A>C rs267607466
NM_005554.4(KRT6A):c.541-2A>G rs267607466
NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys) rs267607473
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) rs60627726
NM_005555.4(KRT6B):c.510CAA[2] (p.Asn172del) rs267607472
NM_005557.4(KRT16):c.1270del (p.Glu424fs) rs267607407
NM_005557.4(KRT16):c.25del (p.Thr9fs) rs267607411
NM_005557.4(KRT16):c.316_327del (p.Phe106_Gly109del) rs267607408
NM_005557.4(KRT16):c.362T>A (p.Met121Lys) rs28928894
NM_005557.4(KRT16):c.362T>C (p.Met121Thr) rs28928894
NM_005557.4(KRT16):c.365A>C (p.Gln122Pro) rs59349773
NM_005557.4(KRT16):c.371T>A (p.Leu124His) rs58293603
NM_005557.4(KRT16):c.371T>C (p.Leu124Pro) rs58293603
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg) rs58293603
NM_005557.4(KRT16):c.371_373del (p.Leu124_Asn125delinsHis) rs267607410
NM_005557.4(KRT16):c.373A>G (p.Asn125Asp) rs58608173
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) rs60723330
NM_005557.4(KRT16):c.380G>C (p.Arg127Pro) rs57424749
NM_005557.4(KRT16):c.383T>A (p.Leu128Gln) rs28928895
NM_005557.4(KRT16):c.386CCT[1] (p.Ser130del) rs58181827
NM_005557.4(KRT16):c.395T>C (p.Leu132Pro) rs60944949
NM_005557.4(KRT16):c.43A>T (p.Lys15Ter) rs267607409
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005591.4(MRE11):c.*1228A>G rs104895007
NM_005591.4(MRE11):c.*1746G>T rs104895006
NM_005591.4(MRE11):c.*1776C>T rs104895005
NM_005591.4(MRE11):c.*1933G>T rs104895004
NM_005591.4(MRE11):c.*214T>G rs104895011
NM_005591.4(MRE11):c.*431G>T rs104895010
NM_005591.4(MRE11):c.*685C>T rs104895008
NM_005591.4(MRE11):c.1098+131A>C rs104895018
NM_005591.4(MRE11):c.1500+168A>G rs104895015
NM_005591.4(MRE11):c.1784-116C>G rs104895014
NM_005591.4(MRE11):c.845+86G>A rs104895019
NM_005629.4(SLC6A8):c.928G>A (p.Gly310Arg) rs1603216804
NM_005633.4(SOS1):c.2792-50dup rs869215095
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys) rs2125650298
NM_005720.4(ARPC1B):c.708-3C>T
NM_005732.4(RAD50):c.-284C>A rs104895041
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.213+73A>C rs104895042
NM_005732.4(RAD50):c.3165-155A>T rs104895049
NM_005732.4(RAD50):c.3618+90C>T rs104895052
NM_005732.4(RAD50):c.3684T>C (p.Ile1228=) rs104895053
NM_005732.4(RAD50):c.494C>A (p.Pro165His) rs104895044
NM_005845.5(ABCC4):c.2034+1G>T rs372399293
NM_005845.5(ABCC4):c.3735+2T>C
NM_005857.3(ZMPSTE24):c.-522C>G rs11811211
NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) rs121908093
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005857.5(ZMPSTE24):c.1105C>T (p.Arg369Ter) rs281875373
NM_005857.5(ZMPSTE24):c.1204-5_1210del rs312262689
NM_005857.5(ZMPSTE24):c.124-2A>C rs312262684
NM_005857.5(ZMPSTE24):c.1249C>T (p.Gln417Ter) rs281875374
NM_005857.5(ZMPSTE24):c.1263dup (p.Ala422fs) rs281875375
NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) rs281875376
NM_005857.5(ZMPSTE24):c.1356C>G (p.Phe452Leu) rs281875377
NM_005857.5(ZMPSTE24):c.207_208del (p.Tyr70fs) rs281875362
NM_005857.5(ZMPSTE24):c.209_210del (p.Tyr70fs) rs281875363
NM_005857.5(ZMPSTE24):c.281T>C (p.Leu94Pro) rs281875364
NM_005857.5(ZMPSTE24):c.296del (p.Pro99fs) rs281875365
NM_005857.5(ZMPSTE24):c.401del (p.Ser134fs) rs281875366
NM_005857.5(ZMPSTE24):c.50del (p.Lys17fs) rs281875360
NM_005857.5(ZMPSTE24):c.591dup (p.Ile198fs) rs281875367
NM_005857.5(ZMPSTE24):c.592_593del (p.Ile198fs) rs281875368
NM_005857.5(ZMPSTE24):c.627+1G>C rs312262686
NM_005857.5(ZMPSTE24):c.628-2A>G rs312262687
NM_005857.5(ZMPSTE24):c.628-50T>C rs6677717
NM_005857.5(ZMPSTE24):c.691G>T (p.Glu231Ter) rs281875369
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter) rs281875370
NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter) rs267607181
NM_005857.5(ZMPSTE24):c.743C>T (p.Pro248Leu) rs121908095
NM_005857.5(ZMPSTE24):c.826C>T (p.Arg276Ter) rs138606746
NM_005857.5(ZMPSTE24):c.954+2T>A rs312262688
NM_005881.4(BCKDK):c.424-1G>T rs2143940438
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.997+1G>A rs367537999
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
NM_005902.4(SMAD3):c.313del (p.Ala105fs) rs587776882
NM_005956.4(MTHFD1):c.826G>C (p.Gly276Arg) rs796064510
NM_005957.5(MTHFR):c.236+1G>A rs1057519359
NM_005961.3(MUC6):c.4577A>T (p.His1526Leu) rs587777897
NM_005961.3(MUC6):c.5911C>T (p.Pro1971Ser) rs113508205
NM_006012.4(CLPP):c.556-2A>T rs2145053028
NM_006015.6(ARID1A):c.1803+1G>C rs2124790604
NM_006015.6(ARID1A):c.2989-3C>G
NM_006015.6(ARID1A):c.3539+1G>A rs2081092809
NM_006015.6(ARID1A):c.4101+1G>A rs1570615384
NM_006015.6(ARID1A):c.4101+1G>C rs1570615384
NM_006015.6(ARID1A):c.4101+1G>T rs1570615384
NM_006015.6(ARID1A):c.4994-2A>T rs2124126095
NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile) rs1566550951
NM_006047.6(RBM12):c.1592_1593delinsGGCT (p.Met531fs) rs2146348720
NM_006068.5(TLR6):c.382C>G (p.Leu128Val) rs137853178
NM_006068.5(TLR6):c.847A>G (p.Ile283Val) rs137853181
NM_006092.3(NOD1):c.-523-142G>A rs199475894
NM_006092.4(NOD1):c.-211+198G>A rs199476261
NM_006092.4(NOD1):c.1492del (p.Leu498fs) rs199476263
NM_006092.4(NOD1):c.2080G>A (p.Ala694Thr) rs199475903
NM_006092.4(NOD1):c.2285+112G>A rs199476268
NM_006092.4(NOD1):c.2285+372T>A rs199475904
NM_006092.4(NOD1):c.2537+344C>G rs199476274
NM_006092.4(NOD1):c.2537+394T>A rs199476275
NM_006092.4(NOD1):c.2537+81G>A rs199476272
NM_006092.4(NOD1):c.2697G>C (p.Lys899Asn) rs199475905
NM_006092.4(NOD1):c.375A>G (p.Pro125=) rs199475899
NM_006118.4(HAX1):c.389T>G (p.Leu130Arg) rs179363871
NM_006118.4(HAX1):c.421T>C (p.Phe141Leu) rs179363870
NM_006121.4(KRT1):c.1019A>G (p.Asp340Gly) rs58062863
NM_006121.4(KRT1):c.1019A>T (p.Asp340Val) rs58062863
NM_006121.4(KRT1):c.1072T>A (p.Tyr358Asn) rs1050872
NM_006121.4(KRT1):c.1254+1G>A rs267607421
NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro) rs267607428
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) rs60447237
NM_006121.4(KRT1):c.1432G>A (p.Glu478Lys) rs59089201
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln) rs59089201
NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp) rs58949162
NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) rs61218439
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) rs57837128
NM_006121.4(KRT1):c.1441A>C (p.Thr481Pro) rs59431558
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) rs58420087
NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro) rs267607430
NM_006121.4(KRT1):c.1457T>C (p.Leu486Pro) rs56914602
NM_006121.4(KRT1):c.1457T>G (p.Leu486Arg) rs56914602
NM_006121.4(KRT1):c.1465G>A (p.Glu489Lys) rs58773503
NM_006121.4(KRT1):c.1468G>A (p.Glu490Lys) rs60279707
NM_006121.4(KRT1):c.1468G>C (p.Glu490Gln) rs60279707
NM_006121.4(KRT1):c.1469A>G (p.Glu490Gly) rs58453920
NM_006121.4(KRT1):c.1556del (p.Gly519fs) rs58373389
NM_006121.4(KRT1):c.1574_1600del (p.Tyr525_Gly533del) rs58193503
NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs) rs59169454
NM_006121.4(KRT1):c.1628del (p.Gly543fs) rs57650413
NM_006121.4(KRT1):c.1666G>C (p.Gly556Arg) rs371843007
NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del) rs267607656
NM_006121.4(KRT1):c.1751dup (p.Ser584fs) rs267607425
NM_006121.4(KRT1):c.1762A>G (p.Arg588Gly) rs60526003
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) rs57977969
NM_006121.4(KRT1):c.464T>A (p.Val155Asp) rs57959072
NM_006121.4(KRT1):c.464T>G (p.Val155Gly) rs57959072
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) rs57695159
NM_006121.4(KRT1):c.507_518del (p.Asp170_Ile173del) rs267607423
NM_006121.4(KRT1):c.508_519del (p.Asp170_Ile173del) rs267607426
NM_006121.4(KRT1):c.531G>T (p.Lys177Asn) rs58381018
NM_006121.4(KRT1):c.536G>C (p.Arg179Pro) rs59044845
NM_006121.4(KRT1):c.556T>C (p.Ser186Pro) rs60022878
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) rs59151464
NM_006121.4(KRT1):c.563A>C (p.Asn188Thr) rs58928370
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser) rs58928370
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006121.4(KRT1):c.571T>A (p.Phe191Ile) rs59022806
NM_006121.4(KRT1):c.572T>G (p.Phe191Cys) rs58008716
NM_006121.4(KRT1):c.573T>G (p.Phe191Leu) rs59208902
NM_006121.4(KRT1):c.577T>C (p.Ser193Pro) rs60937700
NM_006121.4(KRT1):c.591+1G>A rs267607422
NM_006121.4(KRT1):c.591+1G>C rs267607422
NM_006121.4(KRT1):c.591+2T>A rs267607424
NM_006121.4(KRT1):c.591+3_591+6del rs267607427
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) rs61616632
NM_006121.4(KRT1):c.641T>C (p.Leu214Pro) rs61549035
NM_006121.4(KRT1):c.693T>G (p.Phe231Leu) rs267607429
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu) rs60297570
NM_006121.4(KRT1):c.720G>A (p.Arg240=) rs1050871
NM_006158.5(NEFL):c.-44_-42delinsATG rs267607675
NM_006158.5(NEFL):c.-54TC[3] rs267607678
NM_006158.5(NEFL):c.1045-19dup rs267607676
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys) rs57105105
NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter) rs140532785
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.1576dup (p.Glu526fs) rs267607536
NM_006158.5(NEFL):c.189G>A (p.Ser63=) rs59408749
NM_006158.5(NEFL):c.227T>A (p.Val76Glu) rs58907919
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) rs60261494
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln) rs61491953
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) rs58332872
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del) rs267607537
NM_006158.5(NEFL):c.969G>T (p.Arg323=) rs62636521
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) rs60930717
NM_006178.4(NSF):c.1289C>T (p.Ala430Val) rs1568034157
NM_006180.6(NTRK2):c.287+3G>C rs1449585956
NM_006231.4(POLE):c.331-2A>G rs1565980363
NM_006231.4(POLE):c.3379-1G>T rs2138660149
NM_006237.4(POU4F1):c.158_161dup (p.Leu55fs) rs1874754405
NM_006237.4(POU4F1):c.917A>G (p.Gln306Arg) rs1874704791
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro) rs1131691266
NM_006262.4(PRPH):c.-23G>C rs267607670
NM_006262.4(PRPH):c.1217+34G>A rs267607532
NM_006262.4(PRPH):c.1348-36dup rs267607672
NM_006262.4(PRPH):c.229del (p.Arg77fs) rs56843567
NM_006262.4(PRPH):c.547T>C (p.Leu183=) rs267607530
NM_006262.4(PRPH):c.606+52T>G rs267607673
NM_006262.4(PRPH):c.607-77A>C rs267607671
NM_006262.4(PRPH):c.703-13C>T rs267607529
NM_006302.3(MOGS):c.580-3C>T
NM_006351.4(TIMM44):c.923C>A (p.Pro308Gln) rs139625465
NM_006386.5(DDX17):c.776A>G (p.Gln259Arg) rs2145699293
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala) rs1159919237
NM_006502.3(POLH):c.1244+1G>T
NM_006563.5(KLF1):c.13G>A (p.Glu5Lys) rs483352842
NM_006565.4(CTCF):c.1999+1G>T rs2142887335
NM_006565.4(CTCF):c.781+2T>G rs2142827042
NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr) rs1553161980
NM_006618.5(KDM5B):c.1701+1G>A rs367537995
NM_006757.4(TNNT3):c.-18-379C>A rs2334385
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006821.6(ACOT2):c.983A>G (p.His328Arg) rs149033118
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006887.5(ZFP36L2):c.1426dup (p.Ser476fs) rs1558427702
NM_006901.4(MYO9A):c.1658G>A (p.Cys553Tyr) rs777351425
NM_006904.7(PRKDC):c.10458+2T>C
NM_006904.7(PRKDC):c.11853G>A (p.Gln3951=)
NM_006904.7(PRKDC):c.8577G>A (p.Gln2859=)
NM_006906.2(PTPN5):c.1203C>T (p.Ile401=) rs367543225
NM_006906.2(PTPN5):c.467T>C (p.Val156Ala) rs367543232
NM_006906.2(PTPN5):c.768G>A (p.Pro256=) rs367543229
NM_006906.2(PTPN5):c.866A>G (p.Glu289Gly) rs367543227
NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly) rs1582171003
NM_006950.3(SYN1):c.838-2A>G rs2147913419
NM_006979.3(SLC39A7):c.635-3C>A
NM_007040.6(HNRNPUL1):c.1522A>G (p.Asn508Asp) rs2122948849
NM_007194.4(CHEK2):c.-114A>G rs121908697
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe) rs121908694
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1259+28A>G rs121908708
NM_007194.4(CHEK2):c.1543-31del rs121908709
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
NM_007194.4(CHEK2):c.909-8T>C rs1569121935
NM_007254.4(PNKP):c.637-1G>T rs2122334749
NM_007294.4(BRCA1):c.3444G>C (p.Glu1148Asp) rs2154315177
NM_007294.4(BRCA1):c.3629A>G (p.Glu1210Gly) rs1060502347
NM_007294.4(BRCA1):c.3897G>T (p.Gln1299His) rs398122678
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs) rs1567777811
NM_007294.4(BRCA1):c.5073A>C (p.Thr1691=) rs80356853
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5407-2A>G rs80358002
NM_007327.4(GRIN1):c.1325C>T (p.Thr442Met) rs367543113
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) rs1060500046
NM_007327.4(GRIN1):c.1933G>T (p.Ala645Ser) rs1833621434
NM_007327.4(GRIN1):c.1940A>C (p.Tyr647Ser)
NM_007327.4(GRIN1):c.1950C>G (p.Asn650Lys) rs771610568
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) rs1833635820
NM_007327.4(GRIN1):c.2064C>G (p.Ser688=) rs367543115
NM_007327.4(GRIN1):c.2563G>A (p.Val855Ile) rs367543118
NM_007327.4(GRIN1):c.2637A>G (p.Thr879=) rs367543119
NM_007327.4(GRIN1):c.813C>T (p.Leu271=) rs367543112
NM_012310.5(KIF4A):c.3127G>T (p.Asp1043Tyr)
NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) rs199470469
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) rs199470468
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.3773dup (p.Trp1259fs) rs199470471
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) rs199470473
NM_012330.4(KAT6B):c.3877A>T (p.Lys1293Ter) rs199470474
NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) rs199470475
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) rs199470478
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_012330.4(KAT6B):c.5030del (p.Thr1677fs) rs199470481
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.527dup (p.Tyr176Ter) rs199470467
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5734A>T (p.Arg1912Ter) rs199470485
NM_013241.3(FHOD1):c.635C>T (p.Ala212Val) rs587777904
NM_013285.3(GNL2):c.1391A>G (p.Asn464Ser) rs1570052888
NM_013296.5(GPSM2):c.1815+2T>C rs2101549844
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_013964.5(NRG1):c.835C>G (p.Arg279Gly) rs367543163
NM_013964.5(NRG1):c.893A>G (p.His298Arg) rs367543165
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>C rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014159.7(SETD2):c.4715+1G>A rs1485723437
NM_014159.7(SETD2):c.4715+1G>C rs1485723437
NM_014225.6(PPP2R1A):c.78+2T>C rs2122267908
NM_014236.4(GNPAT):c.-47C>T rs201907247
NM_014253.3(TENM1):c.1788_1792del (p.Cys596_Asp598delinsTer) rs2051127747
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.236T>C (p.Met79Thr) rs62653017
NM_014336.5(AIPL1):c.264G>A (p.Trp88Ter) rs62653018
NM_014336.5(AIPL1):c.466-22T>C rs281865197
NM_014336.5(AIPL1):c.466-25C>T rs281865196
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter) rs62637009
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) rs62637011
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) rs199474696
NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp) rs2074547544
NM_014585.6(SLC40A1):c.262A>G (p.Arg88Gly) rs387907374
NM_014585.6(SLC40A1):c.473G>T (p.Trp158Leu) rs387907375
NM_014585.6(SLC40A1):c.553A>G (p.Asn185Asp) rs387907376
NM_014633.5(CTR9):c.373A>G (p.Met125Val) rs1862865944
NM_014825.3(URB1):c.2425G>A (p.Val809Ile) rs376691874
NM_014981.3(MYH15):c.616C>T (p.Gln206Ter)
NM_015080.4(NRXN2):c.5065A>C (p.Lys1689Gln) rs1591422154
NM_015106.4(RAD54L2):c.3976TAC[1] (p.Tyr1327del) rs1206520400
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.4(MLC1):c.353C>G (p.Thr118Arg) rs281875316
NM_015166.4(MLC1):c.373T>C (p.Cys125Arg) rs281875314
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.733G>C (p.Ala245Pro) rs281875312
NM_015166.4(MLC1):c.736A>C (p.Ser246Arg) rs281875315
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_015215.4(CAMTA1):c.1A>G (p.Met1Val) rs1638882060
NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met) rs1554808146
NM_015338.6(ASXL1):c.1719G>A (p.Arg573=)
NM_015338.6(ASXL1):c.1720-1G>T rs1254271466
NM_015340.4(LARS2):c.1761-2A>C
NM_015354.3(NUP188):c.3881G>T (p.Cys1294Phe) rs2131192898
NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis) rs1603467724
NM_015447.4(CAMSAP1):c.1707dup (p.Thr570fs) rs1835535749
NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter) rs1835459356
NM_015512.5(DNAH1):c.550G>T (p.Gly184Cys) rs1578073213
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met) rs371488822
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_016141.4(DYNC1LI1):c.1441C>G (p.Pro481Ala) rs587777902
NM_016169.4(SUFU):c.1366-1G>A rs2135959354
NM_016327.2(UPB1):c.-80C>G rs2070474
NM_016374.6(ARID4B):c.1097_1104dup (p.Leu369fs) rs2103026178
NM_016417.3(GLRX5):c.129G>C (p.Glu43Asp) rs587776500
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro) rs199476398
NM_016604.4(KDM3B):c.3165C>G (p.Asp1055Glu) rs1762641036
NM_016640.4(MRPS30):c.674G>A (p.Arg225Gln) rs751273694
NM_017449.5(EPHB2):c.595C>T (p.Arg199Cys) rs1020423787
NM_017514.5(PLXNA3):c.1008_1009insAGAG (p.Leu337fs) rs2148245076
NM_017547.4(FOXRED1):c.-35G>A rs778239850
NM_017547.4(FOXRED1):c.1341del (p.Ile448fs) rs587776499
NM_017671.5(FERMT1):c.1812G>A (p.Trp604Ter) rs1172664527
NM_017721.5(CC2D1A):c.2074-1G>T rs780010188
NM_017721.5(CC2D1A):c.2125+1G>T rs1971662595
NM_017739.4(POMGNT1):c.354+1G>A rs1057517449
NM_017747.3(ANKHD1):c.5390dup (p.Thr1798fs)
NM_017775.3(TTC19):c.-42G>T rs769078093
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017849.4(TMEM127):c.-18C>T rs121908813
NM_017852.5(NLRP2):c.1053G>A (p.Pro351=) rs199475714
NM_017852.5(NLRP2):c.1842G>A (p.Glu614=) rs199475717
NM_017852.5(NLRP2):c.239A>C (p.His80Pro) rs199475706
NM_017852.5(NLRP2):c.280+93C>A rs199475707
NM_017852.5(NLRP2):c.2870_2871del (p.Arg957fs) rs199476220
NM_017852.5(NLRP2):c.3050+397_3050+399del rs199476221
NM_017852.5(NLRP2):c.3050+433A>C rs199476222
NM_017852.5(NLRP2):c.325+3A>C rs199475710
NM_017857.4(SSH3):c.1383_1384dup (p.Ile462fs) rs773711729
NM_017866.6(TMEM70):c.494G>A (p.Gly165Asp) rs121908743
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys) rs154774641
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile) rs154774637
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017990.5(PDPR):c.85A>G (p.Thr29Ala) rs200469748
NM_018006.5(TRMU):c.1017A>G (p.Leu339=)
NM_018091.6(ELP3):c.686del (p.Lys229fs) rs764649021
NM_018091.6(ELP3):c.893T>G (p.Ile298Ser) rs764954376
NM_018133.4(MSL2):c.73C>T (p.Pro25Ser) rs745561575
NM_018297.4(NGLY1):c.659-1G>A
NM_018300.4(ZNF83):c.824A>C (p.His275Pro) rs575275768
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018398.3(CACNA2D3):c.25_29del (p.Arg9fs) rs1699498998
NM_018662.3(DISC1):c.1286C>G (p.Thr429Ser) rs367543087
NM_018662.3(DISC1):c.1291A>G (p.Thr431Ala) rs367543088
NM_018662.3(DISC1):c.1401A>G (p.Lys467=) rs367543090
NM_018662.3(DISC1):c.340A>T (p.Thr114Ser) rs367543083
NM_018662.3(DISC1):c.472G>A (p.Ala158Thr) rs367543084
NM_018662.3(DISC1):c.54G>A (p.Val18=) rs367543082
NM_018668.5(VPS33B):c.1658-1G>T rs2151662303
NM_018706.7(DHTKD1):c.987+1G>T rs2131358653
NM_018990.4(SASH3):c.1040G>A (p.Arg347His)
NM_019592.7(RNF20):c.247C>T (p.Gln83Ter) rs367537997
NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu) rs281875231
NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro) rs281875232
NM_019892.6(INPP5E):c.1665+1G>A rs2131605617
NM_020184.4(CNNM4):c.1680A>G (p.Thr560=)
NM_020203.6(MEPE):c.1179T>A (p.Ser393Arg) rs1333010157
NM_020311.3(ACKR3):c.772G>A (p.Val258Met) rs200582844
NM_020318.3(PAPPA2):c.1013TCT[2] (p.Phe340del) rs773901878
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1525C>T (p.Gln509Ter) rs61751267
NM_020366.4(RPGRIP1):c.1707T>G (p.Asn569Lys) rs61751273
NM_020366.4(RPGRIP1):c.195G>A (p.Trp65Ter) rs62646878
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.4(RPGRIP1):c.2565_2566insTT (p.Leu856fs) rs61751269
NM_020366.4(RPGRIP1):c.2627A>G (p.Asp876Gly) rs61751274
NM_020366.4(RPGRIP1):c.2760dup (p.Val921fs) rs1555302659
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs) rs61751271
NM_020366.4(RPGRIP1):c.3628_3629insG (p.Thr1210fs) rs61751272
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs) rs61751265
NM_020458.4(TTC7A):c.518-2A>T rs1233340344
NM_020661.4(AICDA):c.24G>T (p.Arg8=) rs104894985
NM_020661.4(AICDA):c.405A>G (p.Gln135=) rs104894983
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro) rs2153357304
NM_020783.4(SYT4):c.1del (p.Met1fs) rs779678442
NM_020791.4(TAOK1):c.825_826insCT (p.Leu276_Lys277insTer) rs1555564792
NM_020806.5(GPHN):c.908C>T (p.Ser303Leu) rs1064796317
NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn) rs1648970624
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln) rs777379515
NM_020937.4(FANCM):c.2302A>G (p.Met768Val) rs1594795205
NM_020987.5(ANK3):c.3394del (p.Gln1132fs)
NM_021008.4(DEAF1):c.826G>C (p.Ala276Pro) rs1383819913
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser) rs149955255
NM_021076.4(NEFH):c.1203T>C (p.Ala401=) rs267607674
NM_021076.4(NEFH):c.1375G>A (p.Glu459Lys) rs59297913
NM_021076.4(NEFH):c.1554A>C (p.Ser518=) rs58260068
NM_021076.4(NEFH):c.1836A>C (p.Ala612=) rs58554387
NM_021076.4(NEFH):c.1878A>C (p.Ala626=) rs58779095
NM_021076.4(NEFH):c.1965_1988del (p.Glu658_Lys665del) rs267607533
NM_021076.4(NEFH):c.1989_2006del (p.Glu664_Pro669del) rs267607534
NM_021076.4(NEFH):c.2015CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG[1] (p.672AEAKSPEKAKSPVK[1]) rs606231212
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1]) rs59890097
NM_021076.4(NEFH):c.2234A>T (p.Lys745Met) rs57188573
NM_021076.4(NEFH):c.472C>T (p.Leu158=) rs61056527
NM_021120.4(DLG3):c.126dup (p.Gly43fs) rs2086554538
NM_021228.3(SCAF1):c.1166C>G (p.Ser389Trp) rs867079547
NM_021620.4(PRDM13):c.1027G>A (p.Glu343Lys) rs1431975587
NM_021625.5(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021930.6(RINT1):c.985G>A (p.Val329Met) rs1213803824
NM_021956.5(GRIK2):c.2546A>G (p.Asn849Ser) rs749348654
NM_022081.6(HPS4):c.502-1G>A rs2146757484
NM_022132.5(MCCC2):c.804-1G>C rs1746865964
NM_022552.5(DNMT3A):c.1851+2T>C rs757785566
NM_022552.5(DNMT3A):c.1935A>T (p.Thr645=)
NM_022552.5(DNMT3A):c.2478+2T>G rs1327946633
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) rs62637027
NM_022772.4(EPS8L2):c.769-2A>T rs111293076
NM_024011.4(CDK11A):c.1927del (p.Ser643fs)
NM_024069.4(KXD1):c.69T>A (p.Asp23Glu) rs776550755
NM_024103.3(SLC25A23):c.757G>A (p.Ala253Thr) rs546358775
NM_024312.5(GNPTAB):c.1875C>G (p.Phe625Leu) rs137853823
NM_024330.4(SLC27A3):c.1447+1G>A rs142223071
NM_024330.4(SLC27A3):c.1876-11C>G rs148593808
NM_024330.4(SLC27A3):c.188G>T (p.Gly63Val) rs34527123
NM_024426.6(WT1):c.887+2T>C rs2133072039
NM_024529.5(CDC73):c.1316+1G>A rs2102058499
NM_024605.4(ARHGAP10):c.716T>A (p.Phe239Tyr) rs483352827
NM_024605.4(ARHGAP10):c.822C>T (p.Val274=) rs483352830
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024652.6(LRRK1):c.5870+1G>C rs1596362892
NM_024675.4(PALB2):c.2514+2T>C rs1343145658
NM_024753.5(TTC21B):c.3805+2T>A rs2105280902
NM_024753.5(TTC21B):c.894+1G>A rs1686915043
NM_024870.4(PREX2):c.357T>A (p.Tyr119Ter) rs1807584458
NM_025009.5(CEP135):c.3164A>G (p.Asp1055Gly)
NM_025114.4(CEP290):c.1550del (p.Asp516_Leu517insTer) rs62640579
NM_025114.4(CEP290):c.181-1G>T rs281865190
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2218-1_2225del rs281865193
NM_025114.4(CEP290):c.265dup (p.Thr89fs) rs281865191
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3176dup (p.Thr1060fs) rs62640571
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_025114.4(CEP290):c.4732G>T (p.Glu1578Ter) rs62640573
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.5424T>C (p.Ser1808=) rs62640575
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.6331C>T (p.Gln2111Ter) rs62640577
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025207.5(FLAD1):c.1552C>T (p.Leu518=)
NM_025207.5(FLAD1):c.1628+4A>G
NM_025225.3(PNPLA3):c.295T>C (p.Cys99Arg) rs2076213
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030787.4(CFHR5):c.1308G>T (p.Trp436Cys) rs201265664
NM_030787.4(CFHR5):c.314T>G (p.Leu105Arg) rs318240754
NM_030962.4(SBF2):c.513G>A (p.Gln171=)
NM_031433.4(MFRP):c.55-17_55-15dup rs143351376
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val) rs137853915
NM_032043.3(BRIP1):c.379+2T>G rs2145825816
NM_032119.4(ADGRV1):c.13088A>G (p.Tyr4363Cys) rs1040207686
NM_032119.4(ADGRV1):c.16308C>A (p.Thr5436=) rs137853917
NM_032137.5(C3orf20):c.1309A>G (p.Thr437Ala) rs1575118091
NM_032137.5(C3orf20):c.1973G>A (p.Arg658Lys) rs1575157919
NM_032147.5(USP44):c.213G>T (p.Glu71Asp) rs11548854
NM_032192.4(PPP1R1B):c.493C>A (p.Arg165Ser) rs367543181
NM_032408.4(BAZ1B):c.3071+1G>T rs1554571044
NM_032485.6(MCM8):c.446C>G (p.Pro149Arg) rs606231343
NM_032520.5(GNPTG):c.688C>G (p.Leu230Val) rs137853827
NM_032551.5(KISS1R):c.167del (p.Gly56fs) rs397515615
NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del) rs2141132961
NM_032578.4(MYPN):c.1016A>T (p.Tyr339Phe) rs199476404
NM_032578.4(MYPN):c.1128T>C (p.Asn376=) rs199476405
NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter) rs199476408
NM_032578.4(MYPN):c.1831G>A (p.Ala611Thr) rs199476409
NM_032578.4(MYPN):c.2072G>C (p.Ser691Thr) rs10997975
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.248del (p.Ile83fs) rs71578989
NM_032578.4(MYPN):c.2521C>A (p.Pro841Thr) rs199476410
NM_032578.4(MYPN):c.2862C>A (p.Phe954Leu) rs199476413
NM_032578.4(MYPN):c.3219A>G (p.Pro1073=) rs199476415
NM_032578.4(MYPN):c.3417C>A (p.Arg1139=) rs144488384
NM_032578.4(MYPN):c.3793G>C (p.Ala1265Pro) rs199476416
NM_032578.4(MYPN):c.3917T>G (p.Val1306Gly) rs199476417
NM_032578.4(MYPN):c.637A>G (p.Ile213Val) rs199476402
NM_032578.4(MYPN):c.650C>A (p.Ala217Glu) rs199476403
NM_032595.5(PPP1R9B):c.1047A>G (p.Gln349=) rs367543194
NM_032595.5(PPP1R9B):c.1059G>C (p.Glu353Asp) rs367543193
NM_032595.5(PPP1R9B):c.1071G>A (p.Ala357=) rs367543192
NM_032595.5(PPP1R9B):c.1077A>G (p.Val359=) rs367543190
NM_032595.5(PPP1R9B):c.1092G>A (p.Arg364=) rs367543189
NM_032595.5(PPP1R9B):c.198G>C (p.Thr66=) rs367543206
NM_032595.5(PPP1R9B):c.513G>A (p.Leu171=) rs367543200
NM_032595.5(PPP1R9B):c.579C>G (p.Thr193=) rs367543199
NM_032595.5(PPP1R9B):c.631C>T (p.Leu211Phe) rs367543198
NM_032595.5(PPP1R9B):c.729G>A (p.Leu243=) rs367543197
NM_032595.5(PPP1R9B):c.777C>G (p.Pro259=) rs367543196
NM_032595.5(PPP1R9B):c.815G>C (p.Cys272Ser) rs367543195
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_032737.4(LMNB2):c.142G>A (p.Glu48Lys) rs58992194
NM_033004.4(NLRP1):c.1916A>T (p.Asp639Val) rs199475701
NM_033004.4(NLRP1):c.2699+368G>A rs199476211
NM_033004.4(NLRP1):c.271+186G>A rs199476207
NM_033004.4(NLRP1):c.2817G>A (p.Val939=) rs199475702
NM_033004.4(NLRP1):c.3186T>G (p.Pro1062=) rs199475703
NM_033004.4(NLRP1):c.3747C>A (p.His1249Gln) rs199475704
NM_033004.4(NLRP1):c.3784-240C>G rs199476215
NM_033004.4(NLRP1):c.3915+121G>C rs199476216
NM_033004.4(NLRP1):c.438C>A (p.Arg146=) rs199475700
NM_033091.3(TRIM4):c.1372del (p.Trp458fs) rs1254691563
NM_033132.5(ZIC5):c.11C>T (p.Pro4Leu) rs201940459
NM_033337.2(CAV3):c.(?_-67)_(*898_?)del
NM_033337.2(CAV3):c.*937C>A rs13067845
NM_033337.3(CAV3):c.(114+1_115-1)_(*1_?)del
NM_033337.3(CAV3):c.*740C>G rs1052354
NM_033337.3(CAV3):c.114+2T>C rs116840787
NM_033337.3(CAV3):c.115-45_115-29del rs116840772
NM_033337.3(CAV3):c.131T>A (p.Val44Glu) rs116840788
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033337.3(CAV3):c.136G>T (p.Ala46Ser) rs116840789
NM_033337.3(CAV3):c.137C>A (p.Ala46Glu) rs116840773
NM_033337.3(CAV3):c.137C>T (p.Ala46Val) rs116840773
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys) rs116840793
NM_033337.3(CAV3):c.13dup (p.Glu5fs) rs199476323
NM_033337.3(CAV3):c.140A>C (p.Glu47Ala) rs199476327
NM_033337.3(CAV3):c.141G>T (p.Glu47Asp) rs199476328
NM_033337.3(CAV3):c.157A>G (p.Ser53Gly) rs116840794
NM_033337.3(CAV3):c.158G>A (p.Ser53Asn) rs199476326
NM_033337.3(CAV3):c.168C>A (p.Gly56=) rs116840774
NM_033337.3(CAV3):c.170T>G (p.Val57Gly) rs199476329
NM_033337.3(CAV3):c.172T>C (p.Trp58Arg) rs199476330
NM_033337.3(CAV3):c.183C>A (p.Ser61Arg) rs116840796
NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del) rs199476331
NM_033337.3(CAV3):c.190A>C (p.Thr64Pro) rs199476332
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_033337.3(CAV3):c.212G>A (p.Trp71Ter) rs199476333
NM_033337.3(CAV3):c.218A>G (p.Tyr73Cys) rs199476334
NM_033337.3(CAV3):c.233C>A (p.Thr78Lys) rs72546668
NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) rs104893715
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.290T>G (p.Phe97Cys) rs104893714
NM_033337.3(CAV3):c.290_292del (p.Phe97del) rs199476335
NM_033337.3(CAV3):c.298A>T (p.Ile100Phe) rs199476336
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg) rs199476337
NM_033337.3(CAV3):c.307_312del (p.Val103_Val104del) rs199476338
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu) rs116840805
NM_033337.3(CAV3):c.40G>C (p.Val14Leu) rs121909281
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) rs104893713
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly) rs199476324
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) rs116840778
NM_033337.3(CAV3):c.84C>A (p.Asp28Glu) rs116840782
NM_033337.3(CAV3):c.85C>A (p.Pro29Thr) rs116840785
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu) rs116840786
NM_033429.3(CALML4):c.454del (p.Asp152fs) rs772664987
NM_033656.4(BRWD1):c.3904C>T (p.His1302Tyr) rs377313924
NM_052845.4(MMAB):c.290+2T>C rs2136208277
NM_052874.5(STX1B):c.736G>C (p.Ala246Pro) rs1567376699
NM_052897.4(MBD6):c.671C>A (p.Ala224Asp)
NM_054012.4(ASS1):c.175-1G>T rs1554982809
NM_057088.3(KRT3):c.1493A>T (p.Glu498Val) rs267607431
NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro) rs60410063
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val) rs781513295
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.1027G>C (p.Ala343Pro) rs773407304
NM_058179.4(PSAT1):c.1027G>T (p.Ala343Ser) rs773407304
NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val) rs760503466
NM_058179.4(PSAT1):c.1060G>A (p.Val354Ile) rs776369732
NM_058179.4(PSAT1):c.107del (p.Gly36fs) rs587777747
NM_058179.4(PSAT1):c.1081A>T (p.Met361Leu) rs764651835
NM_058179.4(PSAT1):c.1088A>C (p.Lys363Thr) rs1417176374
NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile) rs1179781327
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly) rs539796298
NM_058179.4(PSAT1):c.1098G>C (p.Glu366Asp) rs751244621
NM_058179.4(PSAT1):c.1098G>T (p.Glu366Asp) rs751244621
NM_058179.4(PSAT1):c.1106A>G (p.Gln369Arg) rs753080192
NM_058179.4(PSAT1):c.124A>G (p.Met42Val) rs1212801380
NM_058179.4(PSAT1):c.127A>C (p.Ser43Arg) rs1828113407
NM_058179.4(PSAT1):c.129T>A (p.Ser43Arg) rs1828113460
NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg) rs1828113460
NM_058179.4(PSAT1):c.132C>A (p.His44Gln) rs762717142
NM_058179.4(PSAT1):c.132C>G (p.His44Gln) rs762717142
NM_058179.4(PSAT1):c.135G>C (p.Arg45Ser) rs372097888
NM_058179.4(PSAT1):c.135G>T (p.Arg45Ser) rs372097888
NM_058179.4(PSAT1):c.136T>C (p.Ser46Pro) rs1198701902
NM_058179.4(PSAT1):c.153G>C (p.Lys51Asn) rs768121356
NM_058179.4(PSAT1):c.161A>T (p.Asn54Ile) rs1395392907
NM_058179.4(PSAT1):c.163A>G (p.Asn55Asp) rs756181620
NM_058179.4(PSAT1):c.164A>G (p.Asn55Ser) rs777856520
NM_058179.4(PSAT1):c.179T>C (p.Val60Ala) rs1331127729
NM_058179.4(PSAT1):c.182G>A (p.Arg61Gln) rs754847104
NM_058179.4(PSAT1):c.182G>T (p.Arg61Leu) rs754847104
NM_058179.4(PSAT1):c.209A>C (p.Tyr70Ser) rs756187253
NM_058179.4(PSAT1):c.213G>C (p.Lys71Asn) rs542332287
NM_058179.4(PSAT1):c.213G>T (p.Lys71Asn) rs542332287
NM_058179.4(PSAT1):c.233G>C (p.Gly78Ala) rs1270171186
NM_058179.4(PSAT1):c.251G>A (p.Ser84Asn) rs1476912688
NM_058179.4(PSAT1):c.259C>T (p.Pro87Ser) rs11540974
NM_058179.4(PSAT1):c.278T>C (p.Leu93Ser) rs1339060546
NM_058179.4(PSAT1):c.290G>A (p.Arg97Lys) rs1284267959
NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr) rs776667030
NM_058179.4(PSAT1):c.307G>A (p.Val103Met) rs377282696
NM_058179.4(PSAT1):c.307G>T (p.Val103Leu) rs377282696
NM_058179.4(PSAT1):c.316G>A (p.Ala106Thr) rs767276592
NM_058179.4(PSAT1):c.322T>C (p.Ser108Pro) rs752493491
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr) rs753859574
NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser) rs753859574
NM_058179.4(PSAT1):c.341A>C (p.Glu114Ala) rs771692853
NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn) rs41277897
NM_058179.4(PSAT1):c.348G>T (p.Lys116Asn) rs41277897
NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser) rs1013336793
NM_058179.4(PSAT1):c.382C>T (p.Leu128Phe) rs763223623
NM_058179.4(PSAT1):c.385G>T (p.Gly129Trp) rs1242137800
NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu) rs368015309
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.404C>T (p.Pro135Leu) rs761832791
NM_058179.4(PSAT1):c.429C>A (p.Asn143Lys) rs147534153
NM_058179.4(PSAT1):c.429C>G (p.Asn143Lys) rs147534153
NM_058179.4(PSAT1):c.432del (p.Asp145fs) rs1554686365
NM_058179.4(PSAT1):c.439T>A (p.Ser147Thr) rs751156725
NM_058179.4(PSAT1):c.439T>G (p.Ser147Ala) rs751156725
NM_058179.4(PSAT1):c.440C>A (p.Ser147Tyr) rs781533171
NM_058179.4(PSAT1):c.44C>T (p.Ala15Val) rs1554685353
NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys) rs1329274216
NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr) rs199619145
NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser) rs199619145
NM_058179.4(PSAT1):c.493A>C (p.Ile165Leu) rs1292398069
NM_058179.4(PSAT1):c.493A>T (p.Ile165Leu) rs1292398069
NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn) rs547331710
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) rs547331710
NM_058179.4(PSAT1):c.514G>C (p.Val172Leu) rs778210369
NM_058179.4(PSAT1):c.529A>G (p.Met177Val) rs779118343
NM_058179.4(PSAT1):c.530T>C (p.Met177Thr) rs1423962557
NM_058179.4(PSAT1):c.531G>A (p.Met177Ile) rs745989587
NM_058179.4(PSAT1):c.531G>C (p.Met177Ile) rs745989587
NM_058179.4(PSAT1):c.531G>T (p.Met177Ile) rs745989587
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.4(PSAT1):c.540C>A (p.Asn180Lys) rs1202698690
NM_058179.4(PSAT1):c.541T>A (p.Phe181Ile) rs1293441395
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.566C>G (p.Ser189Cys) rs747281164
NM_058179.4(PSAT1):c.569A>T (p.Lys190Met) rs140623746
NM_058179.4(PSAT1):c.571T>C (p.Phe191Leu) rs1259661382
NM_058179.4(PSAT1):c.573T>A (p.Phe191Leu) rs1828216337
NM_058179.4(PSAT1):c.573T>G (p.Phe191Leu) rs1828216337
NM_058179.4(PSAT1):c.592G>T (p.Ala198Ser) rs747134869
NM_058179.4(PSAT1):c.610T>G (p.Ser204Ala) rs1460550190
NM_058179.4(PSAT1):c.616G>C (p.Gly206Arg) rs150920467
NM_058179.4(PSAT1):c.629T>C (p.Val210Ala) rs1000650798
NM_058179.4(PSAT1):c.62T>A (p.Val21Glu) rs180707620
NM_058179.4(PSAT1):c.62T>G (p.Val21Gly) rs180707620
NM_058179.4(PSAT1):c.65T>G (p.Leu22Trp) rs771968396
NM_058179.4(PSAT1):c.662T>C (p.Leu221Pro) rs762233132
NM_058179.4(PSAT1):c.668A>C (p.Glu223Ala) rs1260642306
NM_058179.4(PSAT1):c.670T>C (p.Cys224Arg) rs912171860
NM_058179.4(PSAT1):c.673C>G (p.Pro225Ala) rs1239589266
NM_058179.4(PSAT1):c.682C>A (p.Leu228Met) rs1434764066
NM_058179.4(PSAT1):c.694G>A (p.Val232Met) rs1427229916
NM_058179.4(PSAT1):c.695T>A (p.Val232Glu) rs748340409
NM_058179.4(PSAT1):c.697C>A (p.Gln233Lys) rs778681479
NM_058179.4(PSAT1):c.709A>G (p.Ser237Gly) rs774836528
NM_058179.4(PSAT1):c.712T>C (p.Ser238Pro) rs1388982421
NM_058179.4(PSAT1):c.73A>G (p.Ile25Val) rs760631386
NM_058179.4(PSAT1):c.748G>C (p.Val250Leu) rs368071286
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala) rs572302367
NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr) rs776757559
NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser) rs776757559
NM_058179.4(PSAT1):c.801G>A (p.Met267Ile) rs746900558
NM_058179.4(PSAT1):c.801G>C (p.Met267Ile) rs746900558
NM_058179.4(PSAT1):c.801G>T (p.Met267Ile) rs746900558
NM_058179.4(PSAT1):c.803A>C (p.Glu268Ala) rs1243583213
NM_058179.4(PSAT1):c.814T>A (p.Ser272Thr) rs769540951
NM_058179.4(PSAT1):c.815C>G (p.Ser272Cys) rs777528851
NM_058179.4(PSAT1):c.824C>G (p.Ser275Cys) rs1445403505
NM_058179.4(PSAT1):c.829A>G (p.Thr277Ala) rs771260128
NM_058179.4(PSAT1):c.840G>C (p.Glu280Asp) rs1182144804
NM_058179.4(PSAT1):c.854C>A (p.Ser285Tyr) rs1406396943
NM_058179.4(PSAT1):c.878T>C (p.Val293Ala) rs776760933
NM_058179.4(PSAT1):c.900G>C (p.Lys300Asn) rs1423905834
NM_058179.4(PSAT1):c.900G>T (p.Lys300Asn) rs1423905834
NM_058179.4(PSAT1):c.905A>G (p.Asn302Ser) rs1828527111
NM_058179.4(PSAT1):c.917G>T (p.Arg306Leu) rs373209481
NM_058179.4(PSAT1):c.919A>G (p.Ile307Val) rs1405703333
NM_058179.4(PSAT1):c.91G>A (p.Asp31Asn) rs1192067309
NM_058179.4(PSAT1):c.933A>C (p.Lys311Asn) rs756187059
NM_058179.4(PSAT1):c.952A>G (p.Lys318Glu) rs1229836649
NM_058179.4(PSAT1):c.983A>G (p.Asn328Ser) rs756899947
NM_058179.4(PSAT1):c.98A>G (p.Lys33Arg) rs1166260098
NM_058179.4(PSAT1):c.997A>C (p.Lys333Gln) rs1489985091
NM_078626.3(CDKN2C):c.129+1G>T rs1570203209
NM_078629.4(MSL3):c.961C>T (p.Gln321Ter) rs2053172723
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr) rs281875210
NM_080680.3(COL11A2):c.799-13C>T rs876657443
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_133259.4(LRPPRC):c.2505-1G>T rs1553400727
NM_133372.3(FNIP1):c.3423-1G>T
NM_133443.4(GPT2):c.1213-3C>G
NM_133510.4(RAD51B):c.452+2T>C rs1464701988
NM_133510.4(RAD51B):c.957G>A (p.Gln319=)
NM_134261.3(RORA):c.804_805del (p.Ser269fs) rs1555423812
NM_134424.4(RAD52):c.*1194C>T rs104895054
NM_134424.4(RAD52):c.*315T>A rs104895067
NM_134424.4(RAD52):c.*316G>C rs104895066
NM_134424.4(RAD52):c.*318C>A rs104895064
NM_134424.4(RAD52):c.*320C>A rs104895063
NM_134424.4(RAD52):c.*321C>A rs104895062
NM_134424.4(RAD52):c.*322T>A rs104895061
NM_134424.4(RAD52):c.*324G>A rs104895060
NM_134424.4(RAD52):c.*325C>G rs104895059
NM_134424.4(RAD52):c.*992T>G rs104895055
NM_134444.5(NLRP4):c.*164T>A rs199475755
NM_134444.5(NLRP4):c.-275T>G rs199475741
NM_134444.5(NLRP4):c.-66+6G>T rs199475743
NM_134444.5(NLRP4):c.-66+7G>T rs199475744
NM_134444.5(NLRP4):c.2143T>G (p.Cys715Gly) rs199475750
NM_134444.5(NLRP4):c.2178A>G (p.Lys726=) rs199475751
NM_134444.5(NLRP4):c.2187-56G>C rs199475752
NM_134444.5(NLRP4):c.2697-169A>G rs199475754
NM_134444.5(NLRP4):c.446_447insA (p.Thr150fs) rs199475745
NM_134444.5(NLRP4):c.457_466del (p.Ile153fs) rs199476224
NM_134444.5(NLRP4):c.583G>C (p.Glu195Gln) rs199475746
NM_138403.5(MYL10):c.565C>T (p.Arg189Cys) rs141873317
NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs) rs1555402051
NM_138576.4(BCL11B):c.1365_1367del (p.Tyr455_Lys456delinsTer) rs1595215735
NM_138927.4(SON):c.2365del (p.Ser789fs) rs1555898531
NM_139027.6(ADAMTS13):c.1039T>A (p.Cys347Ser) rs281875294
NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys) rs281875288
NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr) rs281875305
NM_139027.6(ADAMTS13):c.1574G>A (p.Gly525Asp) rs281875286
NM_139027.6(ADAMTS13):c.2012C>T (p.Pro671Leu) rs281875295
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg) rs281875300
NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met) rs281875297
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.2723G>A (p.Cys908Tyr) rs281875301
NM_139027.6(ADAMTS13):c.2723G>C (p.Cys908Ser) rs281875301
NM_139027.6(ADAMTS13):c.3401-3C>A
NM_139027.6(ADAMTS13):c.3548G>T (p.Gly1183Val) rs281875303
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139027.6(ADAMTS13):c.533T>C (p.Ile178Thr) rs281875289
NM_139027.6(ADAMTS13):c.607T>C (p.Ser203Pro) rs281875298
NM_139027.6(ADAMTS13):c.695T>A (p.Leu232Gln) rs281875292
NM_139027.6(ADAMTS13):c.702C>A (p.His234Gln) rs281875304
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139027.6(ADAMTS13):c.788C>G (p.Ser263Cys) rs281875293
NM_139027.6(ADAMTS13):c.932G>A (p.Cys311Tyr) rs281875336
NM_139276.3(STAT3):c.1140-2A>C rs137854908
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.3287C>T (p.Ser1096Phe) rs483352824
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg) rs11047499
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu) rs61921916
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.968T>C (p.Leu323Pro) rs199475864
NM_145007.5(NLRP11):c.-194-7C>T rs199475858
NM_145007.5(NLRP11):c.-405G>A rs199475739
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) rs199473704
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) rs199473704
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) rs199473705
NM_145261.4(DNAJC19):c.129+1G>A rs1003922271
NM_145331.3(MAP3K7):c.721T>G (p.Trp241Gly) rs886039237
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_148912.4(ABHD11):c.397A>G (p.Met133Val) rs1800037693
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.244-5T>C rs199474712
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) rs199474713
NM_152263.4(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr) rs199474714
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) rs199474715
NM_152263.4(TPM3):c.521A>C (p.Glu174Ala) rs199474716
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys) rs199474717
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) rs199474718
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs) rs367543070
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.726_727del (p.Val243fs) rs367543071
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
NM_152564.5(VPS13B):c.1651+1G>A rs758266941
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152641.4(ARID2):c.1911A>T (p.Ala637=)
NM_152641.4(ARID2):c.5364-1G>C rs2136472953
NM_153447.4(NLRP5):c.-405T>A rs199475757
NM_153447.4(NLRP5):c.-57G>A rs199475761
NM_153447.4(NLRP5):c.2323T>C (p.Ser775Pro) rs199475777
NM_153447.4(NLRP5):c.2958-65G>A rs199475783
NM_153447.4(NLRP5):c.565+114G>T rs199475766
NM_153447.4(NLRP5):c.565+81G>A rs199475765
NM_153490.3(KRT13):c.323T>C (p.Met108Thr) rs60364670
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro) rs59897026
NM_153490.3(KRT13):c.335A>G (p.Asn112Ser) rs59970018
NM_153490.3(KRT13):c.344T>C (p.Leu115Pro) rs60906702
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro) rs60440396
NM_153676.4(USH1C):c.819+2T>G rs2133880503
NM_153741.1(DPM3):c.-35-108C>A rs4971073
NM_153741.1(DPM3):c.-35-78T>G rs12745576
NM_170601.5(SIAE):c.966+3A>G rs2134363681
NM_170606.3(KMT2C):c.11812+1G>A rs2092034542
NM_170606.3(KMT2C):c.3840A>G (p.Pro1280=)
NM_170606.3(KMT2C):c.9750+1G>A rs2129106555
NM_170707.3(LMNA):c.781_783delAAGins18 (p.?)
NM_170707.4(LMNA):c.*79G>C rs7339
NM_170707.4(LMNA):c.-3_12del (p.Met1_Pro4del) rs267607546
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys) rs267607548
NM_170707.4(LMNA):c.103C>G (p.Leu35Val) rs56694480
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_170707.4(LMNA):c.1048G>C (p.Ala350Pro) rs267607610
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1057C>A (p.Gln353Lys) rs267607623
NM_170707.4(LMNA):c.1058AGC[2] (p.Gln355del) rs267607635
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_170707.4(LMNA):c.1069G>C (p.Asp357His) rs267607567
NM_170707.4(LMNA):c.106C>T (p.Gln36Ter) rs267607601
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1072G>T (p.Glu358Ter) rs60458016
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.4(LMNA):c.1086del (p.Leu363fs) rs58389804
NM_170707.4(LMNA):c.1102_1130dup (p.Lys378fs) rs267607624
NM_170707.4(LMNA):c.1112T>A (p.Met371Lys) rs59653062
NM_170707.4(LMNA):c.1114del (p.Glu372fs) rs267607575
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser) rs121912495
NM_170707.4(LMNA):c.1142A>C (p.Glu381Ala) rs267607558
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1157+1G>A rs267607590
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) rs267607545
NM_170707.4(LMNA):c.1157G>T (p.Arg386Met) rs267607545
NM_170707.4(LMNA):c.1158-2A>G rs267607636
NM_170707.4(LMNA):c.1159C>G (p.Leu387Val) rs267607562
NM_170707.4(LMNA):c.115A>T (p.Asn39Tyr) rs267607627
NM_170707.4(LMNA):c.1162C>T (p.Arg388Cys) rs58133342
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.4(LMNA):c.1187A>G (p.Gln396Arg) rs61693978
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg) rs267607620
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val) rs58541611
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp) rs267607637
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro) rs267607598
NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro) rs267607638
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro) rs267607597
NM_170707.4(LMNA):c.1365CAA[1] (p.Asn456del) rs267607550
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) rs267607599
NM_170707.4(LMNA):c.1367A>T (p.Asn456Ile) rs60992550
NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys) rs61235244
NM_170707.4(LMNA):c.136A>G (p.Ile46Val) rs267607615
NM_170707.4(LMNA):c.1370del (p.Lys457fs) rs267607549
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1381-2A>G rs267607600
NM_170707.4(LMNA):c.1381-8C>G rs267607683
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1397del (p.Asn466fs) rs58100028
NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg) rs267607639
NM_170707.4(LMNA):c.139G>C (p.Asp47His) rs267607608
NM_170707.4(LMNA):c.1406T>C (p.Ile469Thr) rs57394692
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu) rs267607579
NM_170707.4(LMNA):c.1441T>C (p.Tyr481His) rs57747780
NM_170707.4(LMNA):c.1443C>G (p.Tyr481Ter) rs56935051
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1458G>C (p.Lys486Asn) rs59981161
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1488+5G>A rs267607543
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.148C>A (p.Arg50Ser) rs59931416
NM_170707.4(LMNA):c.1492T>A (p.Trp498Arg) rs267607585
NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys) rs57730570
NM_170707.4(LMNA):c.1495del (p.Ala499fs) rs60556110
NM_170707.4(LMNA):c.1496del (p.Ala499fs) rs267607580
NM_170707.4(LMNA):c.149G>C (p.Arg50Pro) rs60695352
NM_170707.4(LMNA):c.1513_1514insGA (p.Thr505fs) rs267607553
NM_170707.4(LMNA):c.1516C>G (p.His506Asp) rs267607565
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_170707.4(LMNA):c.1558T>G (p.Trp520Gly) rs267607557
NM_170707.4(LMNA):c.1559G>C (p.Trp520Ser) rs58362413
NM_170707.4(LMNA):c.155T>C (p.Leu52Pro) rs267607611
NM_170707.4(LMNA):c.1576_1579dup (p.Arg527fs) rs58571998
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr) rs121912494
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) rs60580541
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) rs60934003
NM_170707.4(LMNA):c.158A>T (p.Glu53Val) rs60290646
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.1609-12T>G rs267607582
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1609-5A>G rs267607680
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser) rs56984562
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) rs56984562
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn) rs56673169
NM_170707.4(LMNA):c.169G>C (p.Ala57Pro) rs28928903
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.1733A>T (p.Glu578Val) rs61224243
NM_170707.4(LMNA):c.1762T>C (p.Cys588Arg) rs267607621
NM_170707.4(LMNA):c.176T>G (p.Leu59Arg) rs58922911
NM_170707.4(LMNA):c.1772G>T (p.Cys591Phe) rs267607556
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser) rs59267781
NM_170707.4(LMNA):c.188T>A (p.Ile63Asn) rs57793737
NM_170707.4(LMNA):c.188T>G (p.Ile63Ser) rs57793737
NM_170707.4(LMNA):c.1904G>A (p.Gly635Asp) rs267607612
NM_170707.4(LMNA):c.1930C>A (p.Arg644Ser) rs142000963
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.1968+1G>A rs113436208
NM_170707.4(LMNA):c.203_208del (p.Glu68_Val69del) rs267607586
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) rs59270054
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) rs28933090
NM_170707.4(LMNA):c.265C>T (p.Arg89Cys) rs267607559
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) rs59040894
NM_170707.4(LMNA):c.289A>G (p.Lys97Glu) rs59065411
NM_170707.4(LMNA):c.28dup (p.Thr10fs) rs58727209
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.302G>C (p.Arg101Pro) rs267607568
NM_170707.4(LMNA):c.31del (p.Arg11fs) rs60029152
NM_170707.4(LMNA):c.331G>T (p.Glu111Ter) rs61726475
NM_170707.4(LMNA):c.331GAG[1] (p.Glu112del) rs61726474
NM_170707.4(LMNA):c.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.357-1G>T rs267607569
NM_170707.4(LMNA):c.373G>A (p.Gly125Ser) rs267607605
NM_170707.4(LMNA):c.394G>C (p.Ala132Pro) rs61726478
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.406G>C (p.Asp136His) rs267607619
NM_170707.4(LMNA):c.412G>A (p.Glu138Lys) rs267607649
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro) rs60652225
NM_170707.4(LMNA):c.419T>G (p.Leu140Arg) rs60652225
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe) rs58912633
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) rs60310264
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.475G>A (p.Glu159Lys) rs267607622
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) rs267607594
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.506del (p.Val169fs) rs267607595
NM_170707.4(LMNA):c.513G>A (p.Lys171=) rs267607542
NM_170707.4(LMNA):c.514-1G>A rs267607589
NM_170707.4(LMNA):c.548T>C (p.Leu183Pro) rs267607583
NM_170707.4(LMNA):c.556G>A (p.Glu186Lys) rs61726479
NM_170707.4(LMNA):c.565CGG[3] (p.Arg190dup) rs267607628
NM_170707.4(LMNA):c.566_567inv (p.Arg189Pro)
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.575A>G (p.Asp192Gly) rs57045855
NM_170707.4(LMNA):c.575A>T (p.Asp192Val) rs57045855
NM_170707.4(LMNA):c.585C>A (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.588_596del (p.Arg196_Thr199delinsSer) rs267607541
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.608A>T (p.Glu203Val) rs28933092
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.626del (p.Asn209fs) rs62636507
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser) rs267607572
NM_170707.4(LMNA):c.640-10A>C rs80356807
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr) rs267607584
NM_170707.4(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_170707.4(LMNA):c.665A>C (p.His222Pro) rs58034145
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) rs61214927
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.723G>A (p.Leu241=) rs58235810
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) rs58327533
NM_170707.4(LMNA):c.743T>C (p.Leu248Pro) rs58850446
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) rs61578124
NM_170707.4(LMNA):c.775T>C (p.Tyr259His) rs60578328
NM_170707.4(LMNA):c.775T>G (p.Tyr259Asp) rs60578328
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.788T>C (p.Leu263Pro) rs267607625
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.800A>G (p.Tyr267Cys) rs57048196
NM_170707.4(LMNA):c.802T>C (p.Ser268Pro) rs267607630
NM_170707.4(LMNA):c.810+1G>A rs267607632
NM_170707.4(LMNA):c.810+63C>A rs267607602
NM_170707.4(LMNA):c.810G>A (p.Lys270=) rs267607631
NM_170707.4(LMNA):c.811-10T>A rs267607685
NM_170707.4(LMNA):c.812T>C (p.Leu271Pro) rs267607641
NM_170707.4(LMNA):c.815_818delinsCCAGAC (p.Asp272fs) rs267607616
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp) rs59914820
NM_170707.4(LMNA):c.859del (p.Ala287fs) rs59564495
NM_170707.4(LMNA):c.864_867del (p.His289fs) rs60168366
NM_170707.4(LMNA):c.881A>C (p.Gln294Pro) rs61616775
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro) rs267607633
NM_170707.4(LMNA):c.896T>C (p.Ile299Thr) rs267607684
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.905T>C (p.Leu302Pro) rs267607596
NM_170707.4(LMNA):c.907T>C (p.Ser303Pro) rs61527854
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.936+1G>T rs267607588
NM_170707.4(LMNA):c.937-11C>G rs267607645
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly) rs267607614
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro) rs59301204
NM_170707.4(LMNA):c.99G>C (p.Glu33Asp) rs57966821
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) rs57966821
NM_170784.3(MKKS):c.-39A>C rs886056499
NM_172070.4(UBR3):c.5023G>C (p.Glu1675Gln) rs1574483194
NM_172201.2(KCNE2):c.166A>G (p.Met56Val) rs199473649
NM_172201.2(KCNE2):c.197C>T (p.Ala66Val) rs16991656
NM_172370.5(DAOA):c.126C>G (p.Asn42Lys) rs367543078
NM_172370.5(DAOA):c.253G>T (p.Val85Phe) rs367543079
NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del) rs267607475
NM_173086.5(KRT6C):c.510CAA[2] (p.Asn172del) rs267607474
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe) rs318240757
NM_173842.1(IL1RN):c.-64_1696del
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs) rs672601268
NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter) rs121913162
NM_174911.5(LRATD2):c.391_392dup (p.His132fs) rs1554597029
NM_175053.4(KRT74):c.1391-1G>A rs267607478
NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn) rs267607477
NM_175053.4(KRT74):c.444C>G (p.Asn148Lys) rs267607205
NM_176810.2(NLRP13):c.2282+34C>A rs199476255
NM_176810.2(NLRP13):c.2650T>A (p.Cys884Ser) rs199475877
NM_176810.2(NLRP13):c.3104C>T (p.Ser1035Leu) rs199475879
NM_176810.2(NLRP13):c.470C>T (p.Ala157Val) rs199475874
NM_176811.2(NLRP8):c.1013C>T (p.Ser338Phe) rs199475837
NM_176811.2(NLRP8):c.2043-3T>C rs199475838
NM_176811.2(NLRP8):c.2159dup (p.Leu720fs) rs199475839
NM_176811.2(NLRP8):c.2170G>A (p.Ala724Thr) rs199475840
NM_176811.2(NLRP8):c.2534+4A>T rs199475843
NM_176811.2(NLRP8):c.2705+138A>G rs199475844
NM_176811.2(NLRP8):c.284G>C (p.Arg95Pro) rs199475833
NM_176811.2(NLRP8):c.368-47C>T rs199475835
NM_176811.2(NLRP8):c.850C>A (p.Leu284Ile) rs199475836
NM_176820.4(NLRP9):c.20C>T (p.Ser7Leu) rs199475846
NM_176820.4(NLRP9):c.2330+743G>T rs199476228
NM_176820.4(NLRP9):c.2752C>T (p.Leu918=) rs199475850
NM_176821.3(NLRP10):c.-304G>A rs199475852
NM_176822.4(NLRP14):c.1282_1283del (p.Cys428fs) rs199476260
NM_176822.4(NLRP14):c.1976C>T (p.Thr659Ile) rs199475882
NM_176822.4(NLRP14):c.2633+52T>C rs199475886
NM_176822.4(NLRP14):c.2976-24A>G rs199475888
NM_176822.4(NLRP14):c.609C>A (p.Gly203=) rs199475881
NM_178537.5(B4GALNT4):c.631G>A (p.Gly211Ser)
NM_178537.5(B4GALNT4):c.850+4C>T
NM_178844.2:c.3109-67T>C
NM_178844.3(NLRC3):c.-1352G>A rs199475927
NM_178844.3(NLRC3):c.2757C>T (p.Ser919=) rs199476286
NM_178844.4(NLRC3):c.*2C>T rs199475947
NM_178844.4(NLRC3):c.1870C>T (p.Leu624Phe) rs199475940
NM_178844.4(NLRC3):c.1928+163T>C rs199476277
NM_178844.4(NLRC3):c.1929-115C>G rs199476279
NM_178844.4(NLRC3):c.2016-3C>T rs199476280
NM_178844.4(NLRC3):c.2100-49C>A rs199476281
NM_178844.4(NLRC3):c.2526A>G (p.Arg842=) rs199475942
NM_178844.4(NLRC3):c.2630A>C (p.Gln877Pro) rs199475944
NM_178844.4(NLRC3):c.2687+86C>G rs199476287
NM_178844.4(NLRC3):c.2717C>T (p.Ala906Val) rs199475945
NM_178844.4(NLRC3):c.2787C>T (p.Ala929=) rs199476288
NM_178844.4(NLRC3):c.2938G>A (p.Asp980Asn) rs199475946
NM_181333.4(PRR5):c.166C>A (p.Arg56Ser) rs587777903
NM_181335.3(ARHGAP8):c.*157_*164del rs1601543290
NM_181523.3(PIK3R1):c.1299+2T>C rs2112260009
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1746-1G>C rs2112278427
NM_181552.4(CUX1):c.2114C>T (p.Ala705Val) rs2132032287
NM_181715.3(CRTC2):c.753-2A>T rs2102110797
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_182490.3(ZNF227):c.2233A>T (p.Lys745Ter) rs1555794654
NM_182503.3(ADAT2):c.191A>G (p.Gln64Arg) rs2128741897
NM_182524.4(ZNF595):c.572del (p.Thr191fs) rs1553801175
NM_182524.4(ZNF595):c.574_575insA (p.Gly192fs) rs1553801178
NM_194293.4(XIRP1):c.352G>A (p.Val118Met) rs115823205
NM_198123.2(CSMD3):c.267A>G (p.Ala89=) rs2093896149
NM_198137.2(CATSPER4):c.523G>T (p.Glu175Ter) rs945217788
NM_198179.3(QRFPR):c.1025del (p.Asn342fs) rs545337361
NM_198253.3(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.3(TERT):c.3157+3A>G rs369807900
NM_198253.3(TERT):c.3295+5G>T rs2126559305
NM_198291.3(SRC):c.1200C>T (p.Asn400=) rs367543243
NM_198291.3(SRC):c.1239C>T (p.Leu413=) rs367543244
NM_198291.3(SRC):c.1474G>A (p.Glu492Lys) rs367543248
NM_198291.3(SRC):c.85G>T (p.Gly29Trp) rs367543239
NM_198834.3(ACACA):c.364G>A (p.Val122Ile) rs2146612065
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_201253.3(CRB1):c.112del (p.Ser38fs) rs62645750
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter) rs62645746
NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys) rs62636288
NM_201253.3(CRB1):c.1439G>A (p.Cys480Tyr) rs62636265
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2441T>A (p.Leu814Gln) rs62636268
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter) rs62636269
NM_201253.3(CRB1):c.2509G>C (p.Asp837His) rs62636289
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2613dup (p.Ala872fs) rs62636272
NM_201253.3(CRB1):c.2671T>G (p.Cys891Gly) rs62635658
NM_201253.3(CRB1):c.2842T>A (p.Cys948Ser) rs62645747
NM_201253.3(CRB1):c.2853dup (p.Ala952fs) rs281865173
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del) rs62645745
NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter) rs62635655
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.3(CRB1):c.3212T>C (p.Leu1071Pro) rs62635657
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter) rs62636277
NM_201253.3(CRB1):c.3347del (p.Phe1116fs) rs62636278
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) rs62636291
NM_201253.3(CRB1):c.3614G>A (p.Gly1205Glu) rs62636279
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser) rs62635649
NM_201253.3(CRB1):c.3961_3970del (p.Cys1321fs) rs63749127
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.428_432del (p.Arg143fs) rs62636261
NM_201253.3(CRB1):c.481dup (p.Ala161fs) rs62635048
NM_201253.3(CRB1):c.482C>T (p.Ala161Val) rs62635651
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.616_621del (p.Gly206_Arg207del) rs62645753
NM_201253.3(CRB1):c.750T>G (p.Cys250Trp) rs62635652
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045
NM_203500.2(KEAP1):c.1708+1G>T rs2144585865
NM_203500.2(KEAP1):c.1708+2T>A rs2144585858
NM_203500.2(KEAP1):c.1709-1G>T rs2144579053
NM_203500.2(KEAP1):c.1709-2A>C rs2144579063
NM_207037.2(TCF12):c.2006G>T (p.Cys669Phe) rs1597901046
NM_207122.2(EXT2):c.1021C>A (p.Pro341Thr) rs1131691261
NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg) rs119103234
NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly) rs119103234
NM_213599.3(ANO5):c.1391delinsAT (p.Ala464fs) rs137854525
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs) rs137854528
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.363+4A>G rs137854522
NM_213599.3(ANO5):c.649-114T>G rs11820954
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NR_131224.1(H19):n.249+306C>T rs483353062
NR_131224.1(H19):n.249+989C>T rs483353061
NR_163594.1(SSPO):n.8646T>A rs747906568
Single allele
m.12297T>C rs121434464
m.1438A>G rs2001030
m.4216T>C rs1599988
m.5874T>C rs118203891

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