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
|
|