|
NM_006514.4(SCN10A):c.5137A>G (p.Met1713Val)
|
rs6599241
|
1.00000
|
|
NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
|
NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
|
NM_004006.3(DMD):c.2645= (p.Asp882=)
|
rs228406
|
0.99999
|
|
NM_001492.6(GDF1):c.326-14T>C
|
rs4808864
|
0.99989
|
|
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val)
|
rs9833275
|
0.99852
|
|
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)
|
rs1063242
|
0.99690
|
|
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro)
|
rs4145333
|
0.99572
|
|
NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
|
NM_000517.6(HBA2):c.*107A>G
|
rs2541640
|
0.99433
|
|
NM_000387.6(SLC25A20):c.536-18T>C
|
rs6414612
|
0.99352
|
|
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)
|
rs30832
|
0.99306
|
|
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=)
|
rs2249128
|
0.99086
|
|
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
|
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val)
|
rs1670283
|
0.99030
|
|
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu)
|
rs7102584
|
0.98759
|
|
NM_003923.3(FOXH1):c.*20A>G
|
rs2721176
|
0.98630
|
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
|
NM_032578.4(MYPN):c.2886T>C (p.Val962=)
|
rs10733838
|
0.98443
|
|
NM_002234.4(KCNA5):c.1149T>C (p.Gly383=)
|
rs2359641
|
0.98412
|
|
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=)
|
rs2562831
|
0.98238
|
|
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=)
|
rs2742348
|
0.98231
|
|
NM_006393.3(NEBL):c.1008+5A>G
|
rs703089
|
0.98186
|
|
NM_032578.4(MYPN):c.2703+17T>C
|
rs6480306
|
0.98057
|
|
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
|
NM_000349.3(STAR):c.465+20A>G
|
rs2720050
|
0.97715
|
|
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)
|
rs6710212
|
0.97529
|
|
NM_001114122.3(CHEK1):c.1411A>G (p.Ile471Val)
|
rs506504
|
0.97478
|
|
NM_006231.4(POLE):c.3582+17A>G
|
rs5744889
|
0.97472
|
|
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=)
|
rs4894043
|
0.97302
|
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
|
NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
|
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=)
|
rs2229495
|
0.95762
|
|
NM_000228.3(LAMB3):c.2702-12dup
|
rs397807887
|
0.95488
|
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
|
NM_000157.4(GBA1):c.1225-34C>A
|
rs3115534
|
0.94932
|
|
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)
|
rs1552280
|
0.94745
|
|
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=)
|
rs865358
|
0.94358
|
|
NM_001267550.2(TTN):c.4480+6C>T
|
rs719201
|
0.94227
|
|
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=)
|
rs6599242
|
0.93283
|
|
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=)
|
rs423552
|
0.93088
|
|
NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
|
NM_053025.4(MYLK):c.1804+8C>T
|
rs820355
|
0.91605
|
|
NM_000388.4(CASR):c.492+19G>A
|
rs9869985
|
0.91296
|
|
NM_004655.4(AXIN2):c.1365A>G (p.Pro455=)
|
rs9915936
|
0.90382
|
|
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=)
|
rs4846051
|
0.90165
|
|
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=)
|
rs1989779
|
0.90157
|
|
NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
|
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)
|
rs601314
|
0.89787
|
|
NM_001371904.1(APOA5):c.-3G>A
|
rs651821
|
0.89454
|
|
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro)
|
rs870124
|
0.89071
|
|
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser)
|
rs9840993
|
0.88650
|
|
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)
|
rs1802904
|
0.88595
|
|
NM_004304.5(ALK):c.27C>G (p.Leu9=)
|
rs4358080
|
0.88526
|
|
NM_005477.3(HCN4):c.3600A>G (p.Pro1200=)
|
rs529004
|
0.88237
|
|
NM_002150.3(HPD):c.97A>G (p.Thr33Ala)
|
rs1154510
|
0.88222
|
|
NM_017617.5(NOTCH1):c.1669+9T>C
|
rs3125006
|
0.88208
|
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
|
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn)
|
rs2291310
|
0.87769
|
|
NM_005902.4(SMAD3):c.309A>G (p.Leu103=)
|
rs1065080
|
0.87365
|
|
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met)
|
rs2291311
|
0.87338
|
|
NM_000303.3(PMM2):c.348-58_348-56dup
|
rs1799772
|
0.87127
|
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
|
NM_000096.4(CP):c.1632A>T (p.Glu544Asp)
|
rs701753
|
0.86852
|
|
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser)
|
rs3948464
|
0.86768
|
|
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=)
|
rs6590357
|
0.84812
|
|
NM_006073.4(TRDN):c.601C>G (p.Leu201Val)
|
rs6902416
|
0.84721
|
|
NM_000890.5(KCNJ5):c.834T>C (p.His278=)
|
rs7118833
|
0.84299
|
|
NM_004006.3(DMD):c.9649+15T>C
|
rs2293668
|
0.84201
|
|
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=)
|
rs7118824
|
0.84187
|
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
|
NM_001173990.3(TMEM216):c.432-11_432-10insA
|
rs11382548
|
0.83974
|
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
|
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
|
NM_020778.5(ALPK3):c.3450T>C (p.Gly1150=)
|
rs167379
|
0.83408
|
|
NM_000518.5(HBB):c.316-185C>T
|
rs1609812
|
0.82712
|
|
NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg)
|
rs1950902
|
0.82707
|
|
NM_174936.4(PCSK9):c.1503+67T>C
|
rs563641
|
0.82678
|
|
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=)
|
rs10064079
|
0.82429
|
|
NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
|
NM_152594.3(SPRED1):c.291G>A (p.Lys97=)
|
rs7182445
|
0.82029
|
|
NM_152594.3(SPRED1):c.424-8C>A
|
rs7180446
|
0.82015
|
|
NM_152594.3(SPRED1):c.1044T>C (p.Val348=)
|
rs3751526
|
0.81965
|
|
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_001715.3(BLK):c.843T>C (p.Phe281=)
|
rs2306234
|
0.81190
|
|
NM_144670.6(A2ML1):c.2367G>A (p.Pro789=)
|
rs1860927
|
0.81108
|
|
NM_006912.6(RIT1):c.430-7C>T
|
rs1749409
|
0.80479
|
|
NM_006912.6(RIT1):c.-21G>C
|
rs493446
|
0.80472
|
|
NM_006767.4(LZTR1):c.1785+21A>G
|
rs178292
|
0.80067
|
|
NM_001250.6(CD40):c.-1T>C
|
rs1883832
|
0.79882
|
|
NM_000501.4(ELN):c.1315+17C>T
|
rs2856728
|
0.79828
|
|
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)
|
rs2075252
|
0.79497
|
|
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=)
|
rs2236506
|
0.79477
|
|
NM_004304.5(ALK):c.1500A>G (p.Gln500=)
|
rs2293564
|
0.79300
|
|
NM_004006.3(DMD):c.7096= (p.Lys2366=)
|
rs1800275
|
0.78847
|
|
NM_020778.5(ALPK3):c.3290C>T (p.Pro1097Leu)
|
rs306197
|
0.78256
|
|
NM_144670.6(A2ML1):c.3769A>G (p.Met1257Val)
|
rs7308811
|
0.78244
|
|
NM_006929.5(SKIC2):c.640A>C (p.Met214Leu)
|
rs437179
|
0.77931
|
|
NM_000069.3(CACNA1S):c.4113+7T>C
|
rs6702590
|
0.77496
|
|
NM_001105206.3(LAMA4):c.3283-15C>T
|
rs2032568
|
0.77184
|
|
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
|
NM_001105206.3(LAMA4):c.3349G>A (p.Gly1117Ser)
|
rs2032567
|
0.77036
|
|
NM_004281.4(BAG3):c.1296A>G (p.Val432=)
|
rs196295
|
0.75935
|
|
NM_001128227.3(GNE):c.51+34T>C
|
rs7875447
|
0.75717
|
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
|
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
|
NM_030662.4(MAP2K2):c.919+12A>G
|
rs350911
|
0.74641
|
|
NM_000890.5(KCNJ5):c.938-10G>A
|
rs4937391
|
0.74403
|
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
|
NM_000642.3(AGL):c.959-18G>A
|
rs634880
|
0.73702
|
|
NM_004004.6(GJB2):c.*84T>C
|
rs3751385
|
0.73662
|
|
NM_001077653.2(TBX20):c.39T>C (p.Ser13=)
|
rs336283
|
0.73657
|
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
|
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)
|
rs10779261
|
0.73169
|
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
|
NM_006270.5(RRAS):c.344+13G>A
|
rs1368464
|
0.71978
|
|
NM_006270.5(RRAS):c.333C>T (p.Asn111=)
|
rs1865077
|
0.71974
|
|
NM_144670.6(A2ML1):c.4020A>G (p.Gln1340=)
|
rs1476910
|
0.71936
|
|
NM_006767.4(LZTR1):c.994-18T>C
|
rs112544
|
0.71870
|
|
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)
|
rs1051419
|
0.71278
|
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
|
NM_002076.4(GNS):c.198G>A (p.Pro66=)
|
rs1147096
|
0.70681
|
|
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=)
|
rs4915477
|
0.70571
|
|
NM_006514.4(SCN10A):c.3218T>C (p.Val1073Ala)
|
rs6795970
|
0.70355
|
|
NM_000380.4(XPA):c.-4A>G
|
rs1800975
|
0.70140
|
|
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu)
|
rs2275166
|
0.70089
|
|
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu)
|
rs10497520
|
0.69988
|
|
NM_006514.4(SCN10A):c.1868-9A>G
|
rs6599250
|
0.69912
|
|
NM_014476.6(PDLIM3):c.906C>T (p.Val302=)
|
rs4635850
|
0.69865
|
|
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=)
|
rs543703
|
0.69798
|
|
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala)
|
rs10258719
|
0.69303
|
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
|
NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met)
|
rs1136287
|
0.69033
|
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
|
NM_000101.4(CYBA):c.521T>C (p.Val174Ala)
|
rs1049254
|
0.68722
|
|
NM_001283009.2(RTEL1):c.958+18C>T
|
rs41309367
|
0.68710
|
|
NM_016169.4(SUFU):c.1365+19T>C
|
rs12414407
|
0.68248
|
|
NM_000178.4(GSS):c.275+20T>G
|
rs734111
|
0.68215
|
|
NM_012082.4(ZFPM2):c.302-13C>T
|
rs3735953
|
0.68152
|
|
NM_020778.5(ALPK3):c.1329G>A (p.Gly443=)
|
rs3803406
|
0.68083
|
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
|
NM_000138.5(FBN1):c.6997+17C>G
|
rs363832
|
0.67656
|
|
NM_000458.4(HNF1B):c.1654-22=
|
rs3110641
|
0.67606
|
|
NM_001142800.2(EYS):c.1300-3C>T
|
rs1936439
|
0.67522
|
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
|
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro)
|
rs4713956
|
0.66570
|
|
NM_145046.5(CALR3):c.381G>A (p.Gln127=)
|
rs3810198
|
0.66498
|
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
|
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=)
|
rs2633852
|
0.66322
|
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66162
|
|
NM_001105206.3(LAMA4):c.1492T>C (p.Tyr498His)
|
rs1050348
|
0.66129
|
|
NM_006231.4(POLE):c.6252A>G (p.Ser2084=)
|
rs5745022
|
0.66039
|
|
NM_001244710.2(GFPT1):c.1105+7A>G
|
rs6722492
|
0.65895
|
|
NM_022437.3(ABCG8):c.1412-8C>T
|
rs28517482
|
0.65816
|
|
NM_145046.5(CALR3):c.972C>T (p.Tyr324=)
|
rs9305079
|
0.65389
|
|
NM_000152.5(GAA):c.858+30T>C
|
rs2304845
|
0.65092
|
|
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_001164508.2(NEB):c.24766-18C>T
|
rs2288195
|
0.64910
|
|
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)
|
rs2228001
|
0.64910
|
|
NM_001018005.2(TPM1):c.453C>A (p.Ala151=)
|
rs1071646
|
0.64628
|
|
NM_006231.4(POLE):c.910-6G>C
|
rs4077170
|
0.64353
|
|
NM_004628.5(XPC):c.2251-6A>C
|
rs2279017
|
0.64290
|
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
|
NM_001184.4(ATR):c.1776T>A (p.Gly592=)
|
rs2227930
|
0.63717
|
|
NM_004304.5(ALK):c.2535T>C (p.Gly845=)
|
rs2256740
|
0.63034
|
|
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)
|
rs2229849
|
0.63028
|
|
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val)
|
rs2229848
|
0.62946
|
|
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
|
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys)
|
rs1805049
|
0.62414
|
|
NM_015627.3(LDLRAP1):c.654A>G (p.Thr218=)
|
rs28969504
|
0.62316
|
|
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)
|
rs6709886
|
0.62301
|
|
NM_003793.4(CTSF):c.219T>C (p.Gly73=)
|
rs1127894
|
0.62142
|
|
NM_005188.4(CBL):c.1095+19G>T
|
rs2510152
|
0.61865
|
|
NM_014625.4(NPHS2):c.954C>T (p.Ala318=)
|
rs1410592
|
0.61660
|
|
NM_206933.4(USH2A):c.504A>G (p.Thr168=)
|
rs4253963
|
0.61366
|
|
NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61317
|
|
NM_024312.5(GNPTAB):c.3135+5T>C
|
rs759935
|
0.60955
|
|
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=)
|
rs4577050
|
0.60784
|
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.60691
|
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
|
NM_006939.4(SOS2):c.2232C>T (p.Asn744=)
|
rs2229869
|
0.60005
|
|
NM_000243.3(MEFV):c.1530T>C (p.Asp510=)
|
rs224206
|
0.59561
|
|
NM_000370.3(TTPA):c.663+11T>C
|
rs4501570
|
0.59337
|
|
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)
|
rs10927887
|
0.59220
|
|
NM_053025.4(MYLK):c.1005C>T (p.Thr335=)
|
rs4678047
|
0.59203
|
|
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=)
|
rs10778148
|
0.58708
|
|
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)
|
rs2229974
|
0.58641
|
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
|
NM_000243.3(MEFV):c.1422G>A (p.Glu474=)
|
rs224208
|
0.57768
|
|
NM_017617.5(NOTCH1):c.1441+7C>T
|
rs9411208
|
0.57467
|
|
NM_002709.3(PPP1CB):c.201A>G (p.Gln67=)
|
rs1128416
|
0.57257
|
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
|
NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
|
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala)
|
rs2287622
|
0.57004
|
|
NM_000287.4(PEX6):c.1961+20G>A
|
rs2274514
|
0.56870
|
|
NM_000287.4(PEX6):c.2814G>A (p.Glu938=)
|
rs1129186
|
0.56758
|
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
|
NM_001042492.3(NF1):c.702G>A (p.Leu234=)
|
rs1801052
|
0.56607
|
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
|
NM_002691.4(POLD1):c.2953+12C>T
|
rs3218776
|
0.55791
|
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
|
NM_000251.3(MSH2):c.211+9C>G
|
rs2303426
|
0.55454
|
|
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)
|
rs2272697
|
0.55313
|
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
|
NM_002769.5(PRSS1):c.738T>C (p.Asn246=)
|
rs6667
|
0.53816
|
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
|
NM_006231.4(POLE):c.3156G>A (p.Thr1052=)
|
rs5744857
|
0.53577
|
|
NM_006231.4(POLE):c.4530A>G (p.Ala1510=)
|
rs5744944
|
0.53564
|
|
NM_001159699.2(FHL1):c.737-8C>T
|
rs2076705
|
0.53498
|
|
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=)
|
rs40305
|
0.53400
|
|
NM_000051.4(ATM):c.6807+238G>C
|
rs609429
|
0.53261
|
|
NM_000251.3(MSH2):c.1077-80G>A
|
rs2347794
|
0.53152
|
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
|
NM_001142800.2(EYS):c.1146T>C (p.Asn382=)
|
rs974110
|
0.52503
|
|
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=)
|
rs1133683
|
0.52439
|
|
NM_006506.5(RASA2):c.2160= (p.Leu720=)
|
rs295323
|
0.52396
|
|
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)
|
rs1142530
|
0.52046
|
|
NM_005911.6(MAT2A):c.792C>G (p.Arg264=)
|
rs1078004
|
0.51750
|
|
NM_000093.5(COL5A1):c.2952+11A>T
|
rs4240707
|
0.51337
|
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
|
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)
|
rs9530
|
0.50676
|
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
|
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)
|
rs9342464
|
0.50535
|
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
|
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)
|
rs12210295
|
0.49949
|
|
NM_001042492.3(NF1):c.5609+19T>A
|
rs2285894
|
0.49901
|
|
NM_006231.4(POLE):c.6330+15G>A
|
rs5745023
|
0.49667
|
|
NM_002691.4(POLD1):c.2718-12A>G
|
rs3219433
|
0.49249
|
|
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)
|
rs3827075
|
0.49054
|
|
NM_017617.5(NOTCH1):c.2588-4G>A
|
rs3125001
|
0.48926
|
|
NM_000104.4(CYP1B1):c.1294= (p.Leu432=)
|
rs1056836
|
0.48746
|
|
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_019109.5(ALG1):c.1149C>T (p.Phe383=)
|
rs1047732
|
0.48295
|
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
|
NM_001165963.4(SCN1A):c.1028+21T>C
|
rs1542484
|
0.48206
|
|
NM_017617.5(NOTCH1):c.1555+10A>G
|
rs11145767
|
0.47945
|
|
NM_015627.3(LDLRAP1):c.604T>C (p.Ser202Pro)
|
rs6687605
|
0.47789
|
|
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn)
|
rs4548513
|
0.47526
|
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
|
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu)
|
rs1881421
|
0.47503
|
|
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)
|
rs2306985
|
0.47212
|
|
NM_017617.5(NOTCH1):c.1670-9A>G
|
rs3124603
|
0.47096
|
|
NM_144997.7(FLCN):c.1062+6C>T
|
rs8065832
|
0.47076
|
|
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)
|
rs1135688
|
0.47045
|
|
NM_000199.5(SGSH):c.663+17T>C
|
rs6565647
|
0.46516
|
|
NM_016169.4(SUFU):c.182+16C>T
|
rs2274351
|
0.46492
|
|
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)
|
rs1801195
|
0.46398
|
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
|
NM_002769.5(PRSS1):c.738= (p.Asn246=)
|
rs6667
|
0.46184
|
|
NM_005751.5(AKAP9):c.5163-20G>A
|
rs9785013
|
0.46162
|
|
NM_000020.3(ACVRL1):c.313+11C>T
|
rs2071218
|
0.45979
|
|
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)
|
rs10644111
|
0.45670
|
|
NM_013266.4(CTNNA3):c.292+13A>G
|
rs3750863
|
0.45524
|
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
|
NM_004588.5(SCN2B):c.449-12C>A
|
rs8192613
|
0.45401
|
|
NM_014049.5(ACAD9):c.379A>C (p.Arg127=)
|
rs1680778
|
0.45398
|
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
|
NM_174936.4(PCSK9):c.658-7C>T
|
rs2483205
|
0.45035
|
|
NM_000553.6(WRN):c.2361G>T (p.Leu787=)
|
rs1800392
|
0.44630
|
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
|
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)
|
rs1050228
|
0.44445
|
|
NM_000264.5(PTCH1):c.2560+9G>C
|
rs2066829
|
0.44128
|
|
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=)
|
rs7415038
|
0.43715
|
|
NM_006231.4(POLE):c.62+15C>T
|
rs2075784
|
0.43566
|
|
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
|
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)
|
rs10521
|
0.43502
|
|
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val)
|
rs6835769
|
0.43382
|
|
NM_015506.3(MMACHC):c.321G>A (p.Val107=)
|
rs2275276
|
0.43226
|
|
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)
|
rs2229971
|
0.42989
|
|
NM_000214.3(JAG1):c.440-15T>C
|
rs2273060
|
0.42936
|
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
|
NM_001042492.3(NF1):c.2034G>A (p.Pro678=)
|
rs2285892
|
0.42930
|
|
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=)
|
rs7076862
|
0.42876
|
|
NM_006073.4(TRDN):c.2051-19G>A
|
rs7754205
|
0.42872
|
|
NM_001711.6(BGN):c.540C>T (p.Ser180=)
|
rs1126499
|
0.42617
|
|
NM_006393.3(NEBL):c.1671+9T>C
|
rs10491056
|
0.42572
|
|
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=)
|
rs28407527
|
0.42407
|
|
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=)
|
rs1063243
|
0.42386
|
|
NM_000257.4(MYH7):c.3972+62_3972+63insC
|
rs34598192
|
0.42217
|
|
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=)
|
rs2631365
|
0.42203
|
|
NM_003480.4(MFAP5):c.172+5A>G
|
rs11046589
|
0.42157
|
|
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=)
|
rs10228334
|
0.42044
|
|
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=)
|
rs13245393
|
0.42036
|
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
|
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)
|
rs6964587
|
0.41920
|
|
NM_022437.3(ABCG8):c.64-7C>T
|
rs4148210
|
0.41875
|
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
|
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr)
|
rs11681642
|
0.40886
|
|
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)
|
rs2303271
|
0.40780
|
|
NM_005751.5(AKAP9):c.6945+8C>T
|
rs733957
|
0.40759
|
|
NM_201548.5(CERKL):c.156C>T (p.Phe52=)
|
rs1473295
|
0.40745
|
|
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)
|
rs7079481
|
0.40619
|
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
|
NM_000287.3(PEX6):c.-55C>T
|
rs9462859
|
0.40581
|
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
|
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=)
|
rs10236397
|
0.40488
|
|
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
|
rs1129187
|
0.40479
|
|
NM_144997.7(FLCN):c.397-14C>T
|
rs1736219
|
0.40309
|
|
NM_000251.3(MSH2):c.1661+12G>A
|
rs3732183
|
0.40290
|
|
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)
|
rs10823148
|
0.39447
|
|
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=)
|
rs274558
|
0.39440
|
|
NM_003060.4(SLC22A5):c.824+13T>C
|
rs274557
|
0.39418
|
|
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn)
|
rs10997975
|
0.39270
|
|
NM_016938.5(EFEMP2):c.276C>T (p.His92=)
|
rs633800
|
0.39212
|
|
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)
|
rs227368
|
0.39095
|
|
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn)
|
rs7916821
|
0.39079
|
|
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)
|
rs10880
|
0.39072
|
|
NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser)
|
rs2240308
|
0.39067
|
|
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)
|
rs2236225
|
0.38175
|
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
|
NM_001711.6(BGN):c.141G>A (p.Ser47=)
|
rs4833
|
0.37237
|
|
NM_030777.4(SLC2A10):c.1547+18T>G
|
rs2425906
|
0.37194
|
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
|
NM_004006.3(DMD):c.5234G>A (p.Arg1745His)
|
rs1801187
|
0.36912
|
|
NM_022437.3(ABCG8):c.-19T>G
|
rs3806471
|
0.36621
|
|
NM_005591.4(MRE11):c.1225+19T>C
|
rs641936
|
0.36577
|
|
NM_001077653.2(TBX20):c.545+13A>G
|
rs17675148
|
0.36511
|
|
NM_000093.5(COL5A1):c.2430+20C>T
|
rs3124932
|
0.36473
|
|
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly)
|
rs10012
|
0.36324
|
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
|
NM_000215.4(JAK3):c.3096+18A>G
|
rs2302603
|
0.36048
|
|
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
|
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=)
|
rs4894029
|
0.35796
|
|
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp)
|
rs1001238
|
0.35628
|
|
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=)
|
rs2163009
|
0.35615
|
|
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=)
|
rs1560221
|
0.35601
|
|
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val)
|
rs2042995
|
0.35566
|
|
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=)
|
rs3813250
|
0.35546
|
|
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=)
|
rs2366751
|
0.35531
|
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
|
NM_006073.4(TRDN):c.1188A>G (p.Lys396=)
|
rs6901953
|
0.35392
|
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
|
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)
|
rs1056827
|
0.35167
|
|
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)
|
rs2229850
|
0.35164
|
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
|
NM_001267550.2(TTN):c.97795+6G>T
|
rs3731750
|
0.35139
|
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
|
NM_006231.4(POLE):c.6657+16C>T
|
rs5745075
|
0.34836
|
|
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
|
rs3124299
|
0.34823
|
|
NM_001735.3(C5):c.1632C>T (p.Tyr544=)
|
rs25681
|
0.34796
|
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
|
NM_003242.6(TGFBR2):c.263+7A>G
|
rs1155705
|
0.34308
|
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
|
NM_033453.4(ITPA):c.138G>A (p.Gln46=)
|
rs8362
|
0.34252
|
|
NM_001379200.1(TBX1):c.691C>T (p.Leu231=)
|
rs2301558
|
0.34251
|
|
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=)
|
rs2227931
|
0.34166
|
|
NM_000245.4(MET):c.4092G>A (p.Pro1364=)
|
rs41737
|
0.34093
|
|
NM_000245.4(MET):c.4017G>A (p.Ala1339=)
|
rs2023748
|
0.34017
|
|
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)
|
rs2075443
|
0.33961
|
|
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
|
rs2797234
|
0.33929
|
|
NM_014244.5(ADAMTS2):c.534+9G>C
|
rs2271213
|
0.33886
|
|
NM_000245.4(MET):c.3858C>T (p.Asp1286=)
|
rs41736
|
0.33828
|
|
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)
|
rs6960867
|
0.33817
|
|
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=)
|
rs28927678
|
0.33792
|
|
NM_000535.7(PMS2):c.705+17A>G
|
rs62456182
|
0.33782
|
|
NM_000169.3(GLA):c.1000-22C>T
|
rs2071228
|
0.33579
|
|
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=)
|
rs2562838
|
0.33531
|
|
NM_006073.4(TRDN):c.1186+16C>T
|
rs3813328
|
0.33405
|
|
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=)
|
rs2271212
|
0.33047
|
|
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)
|
rs1860967
|
0.33038
|
|
NM_004006.3(DMD):c.8027+11C>T
|
rs2270672
|
0.33026
|
|
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile)
|
rs398829
|
0.32945
|
|
NM_013266.4(CTNNA3):c.2266-10T>G
|
rs2105702
|
0.32828
|
|
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)
|
rs1130529
|
0.32745
|
|
NM_001267550.2(TTN):c.2244G>A (p.Glu748=)
|
rs6715406
|
0.32532
|
|
NM_144670.6(A2ML1):c.1476+9G>A
|
rs7136813
|
0.32464
|
|
NM_005666.4(CFHR2):c.430+20C>T
|
rs3828032
|
0.32238
|
|
NM_004006.3(DMD):c.2168+13T>C
|
rs228373
|
0.32216
|
|
NM_001458.5(FLNC):c.5398+16T>C
|
rs13227216
|
0.32203
|
|
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
|
rs10891314
|
0.32172
|
|
NM_000202.8(IDS):c.438C>T (p.Thr146=)
|
rs1141608
|
0.32051
|
|
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=)
|
rs2296383
|
0.32034
|
|
NM_022114.4(PRDM16):c.3284+15G>T
|
rs870171
|
0.31838
|
|
NM_000093.5(COL5A1):c.4176+9T>G
|
rs10858282
|
0.31743
|
|
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
|
NM_024426.6(WT1):c.213G>T (p.Pro71=)
|
rs2234582
|
0.31689
|
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
|
NM_006939.4(SOS2):c.88-6T>C
|
rs12888783
|
0.31349
|
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
|
NM_001267550.2(TTN):c.23099-3T>C
|
rs2562830
|
0.31174
|
|
NM_000199.5(SGSH):c.1367G>A (p.Arg456His)
|
rs7503034
|
0.31021
|
|
NM_006514.4(SCN10A):c.884-13T>C
|
rs7641844
|
0.30982
|
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
|
NM_004333.6(BRAF):c.1929A>G (p.Gly643=)
|
rs9648696
|
0.30796
|
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
|
NM_000204.5(CFI):c.804G>A (p.Ser268=)
|
rs2298749
|
0.30706
|
|
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)
|
rs3742801
|
0.30506
|
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
|
NM_001492.6(GDF1):c.353C>T (p.Ala118Val)
|
rs4808863
|
0.30267
|
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
|
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)
|
rs34082359
|
0.30139
|
|
NM_000255.4(MMUT):c.1595G>A (p.Arg532His)
|
rs1141321
|
0.30110
|
|
NM_201400.4(EEF2KMT):c.*733_*734dup
|
rs59332251
|
0.30086
|
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
|
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=)
|
rs2562836
|
0.29823
|
|
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=)
|
rs2562839
|
0.29759
|
|
NM_000093.5(COL5A1):c.1569+16A>G
|
rs12685946
|
0.29746
|
|
NM_001105206.3(LAMA4):c.5160T>A (p.Val1720=)
|
rs1050353
|
0.29327
|
|
NM_144670.6(A2ML1):c.3237G>A (p.Val1079=)
|
rs11612600
|
0.29274
|
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
|
NM_005591.4(MRE11):c.403-6G>A
|
rs535801
|
0.28996
|
|
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=)
|
rs34373805
|
0.28610
|
|
NM_001458.5(FLNC):c.3297A>G (p.Val1099=)
|
rs3734973
|
0.28603
|
|
NM_000481.4(AMT):c.954G>A (p.Arg318=)
|
rs11715915
|
0.28593
|
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
|
NM_206933.4(USH2A):c.1419C>T (p.Thr473=)
|
rs1805050
|
0.28143
|
|
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala)
|
rs4774
|
0.27935
|
|
NM_014363.6(SACS):c.-13A>G
|
rs17078720
|
0.27905
|
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
|
NM_020778.5(ALPK3):c.*5C>T
|
rs3748380
|
0.27385
|
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
|
NM_004304.5(ALK):c.3375C>A (p.Gly1125=)
|
rs3795850
|
0.27292
|
|
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg)
|
rs13551
|
0.27120
|
|
NM_001289808.2(CRYAB):c.324+4T>G
|
rs11603779
|
0.26871
|
|
NM_024426.6(WT1):c.887+16G>A
|
rs1799933
|
0.26810
|
|
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg)
|
rs1881420
|
0.26767
|
|
NM_001395413.1(POR):c.1499C>T (p.Ala500Val)
|
rs1057868
|
0.26722
|
|
NM_001105206.3(LAMA4):c.651C>T (p.Thr217=)
|
rs2072021
|
0.26664
|
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
|
NM_001164508.2(NEB):c.16705-18C>T
|
rs61254943
|
0.26527
|
|
NM_006767.4(LZTR1):c.210G>A (p.Lys70=)
|
rs13054014
|
0.26457
|
|
NM_000492.4(CFTR):c.3367+246C>T
|
rs2188149
|
0.26366
|
|
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)
|
rs1799793
|
0.26310
|
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
|
NM_004628.5(XPC):c.2061G>A (p.Arg687=)
|
rs2227998
|
0.26212
|
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
|
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val)
|
rs10149146
|
0.25663
|
|
NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)
|
rs3814995
|
0.25613
|
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
|
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=)
|
rs1805120
|
0.25427
|
|
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)
|
rs1051338
|
0.25399
|
|
NM_001283009.2(RTEL1):c.766-19G>A
|
rs2297437
|
0.25212
|
|
NM_001105206.3(LAMA4):c.5326+6T>G
|
rs3734289
|
0.24973
|
|
NM_001105206.3(LAMA4):c.5326+15A>C
|
rs3734290
|
0.24942
|
|
NM_000512.5(GALNS):c.708C>T (p.His236=)
|
rs1064315
|
0.24874
|
|
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile)
|
rs35767802
|
0.24762
|
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
|
NM_000302.4(PLOD1):c.294C>T (p.Phe98=)
|
rs7529452
|
0.24445
|
|
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=)
|
rs1972715
|
0.24390
|
|
NM_001267550.2(TTN):c.67637-17T>C
|
rs2288571
|
0.24363
|
|
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=)
|
rs1254392
|
0.24353
|
|
NM_005502.4(ABCA1):c.5927+18T>C
|
rs2020927
|
0.24332
|
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
|
NM_004304.5(ALK):c.3359+6C>T
|
rs4622670
|
0.24182
|
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
|
NM_001377540.1(SLMAP):c.1443C>T (p.Asp481=)
|
rs17058639
|
0.23931
|
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
|
NM_152594.3(SPRED1):c.424-18G>A
|
rs7179118
|
0.23890
|
|
NM_000179.3(MSH6):c.540T>C (p.Asp180=)
|
rs1800935
|
0.23857
|
|
NM_006270.5(RRAS):c.454-10C>G
|
rs731861
|
0.23663
|
|
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=)
|
rs12464787
|
0.23390
|
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
|
NM_022114.4(PRDM16):c.444C>T (p.Ser148=)
|
rs2282198
|
0.22946
|
|
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=)
|
rs7164902
|
0.22884
|
|
NM_000284.4(PDHA1):c.1009-23T>C
|
rs5955760
|
0.22827
|
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
|
NM_001267550.2(TTN):c.18029-19G>C
|
rs17076
|
0.22460
|
|
NM_006393.3(NEBL):c.2031G>A (p.Arg677=)
|
rs1006363
|
0.22278
|
|
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)
|
rs1051421
|
0.22213
|
|
NM_005902.4(SMAD3):c.-15G>A
|
rs1061427
|
0.22024
|
|
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser)
|
rs3204145
|
0.21876
|
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303
|
0.21786
|
|
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=)
|
rs820463
|
0.21770
|
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
|
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro)
|
rs12632942
|
0.21722
|
|
NM_006514.4(SCN10A):c.3393C>G (p.Thr1131=)
|
rs6771157
|
0.21708
|
|
NM_032588.4(TRIM63):c.709A>G (p.Lys237Glu)
|
rs2275950
|
0.21674
|
|
NM_014244.5(ADAMTS2):c.2959-17C>T
|
rs2303641
|
0.21622
|
|
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg)
|
rs1050349
|
0.21500
|
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
|
NM_001034853.2(RPGR):c.29-15G>A
|
rs6651585
|
0.21451
|
|
NM_001164508.2(NEB):c.11077-19T>C
|
rs4303716
|
0.21438
|
|
NM_001267550.2(TTN):c.57315T>C (p.His19105=)
|
rs35833641
|
0.21406
|
|
NM_004628.5(XPC):c.1496C>T (p.Ala499Val)
|
rs2228000
|
0.21224
|
|
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)
|
rs6720173
|
0.21159
|
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
|
NM_001142800.2(EYS):c.2024-14_2024-13insT
|
rs142590049
|
0.21040
|
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
|
NM_000512.5(GALNS):c.634-19G>A
|
rs12934499
|
0.20916
|
|
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val)
|
rs57326399
|
0.20797
|
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
|
NM_004304.5(ALK):c.4165-6C>T
|
rs17007646
|
0.20768
|
|
NM_000492.4(CFTR):c.1767-136T>C
|
rs11978434
|
0.20764
|
|
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn)
|
rs2819590
|
0.20761
|
|
NM_017636.4(TRPM4):c.-12G>A
|
rs3760663
|
0.20754
|
|
NM_006514.4(SCN10A):c.4323A>G (p.Lys1441=)
|
rs6790627
|
0.20722
|
|
NM_000270.4(PNP):c.151G>A (p.Gly51Ser)
|
rs1049564
|
0.20682
|
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20632
|
|
NM_005257.6(GATA6):c.1620+7A>G
|
rs3764962
|
0.20625
|
|
NM_080424.4(SP110):c.617C>T (p.Ala206Val)
|
rs28930679
|
0.20608
|
|
NM_013266.4(CTNNA3):c.293-19A>T
|
rs1909654
|
0.20576
|
|
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala)
|
rs11004439
|
0.20535
|
|
NM_014244.5(ADAMTS2):c.1630-18T>C
|
rs2303638
|
0.20408
|
|
NM_206933.4(USH2A):c.3812-8T>G
|
rs646094
|
0.20360
|
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
|
NM_014244.5(ADAMTS2):c.1238+18G>A
|
rs2278222
|
0.20277
|
|
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=)
|
rs2278221
|
0.20236
|
|
NM_001142800.2(EYS):c.2024-14C>T
|
rs45628235
|
0.20204
|
|
NM_006514.4(SCN10A):c.1476C>T (p.Leu492=)
|
rs7617919
|
0.20158
|
|
NM_000328.3(RPGR):c.2241+11T>C
|
rs4084271
|
0.20121
|
|
NM_006514.4(SCN10A):c.1284G>A (p.Glu428=)
|
rs62244070
|
0.20052
|
|
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro)
|
rs187316
|
0.20037
|
|
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)
|
rs3776070
|
0.19906
|
|
NM_000321.3(RB1):c.2664-10T>A
|
rs3092904
|
0.19833
|
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
|
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)
|
rs1050239
|
0.19762
|
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
|
NM_001142800.2(EYS):c.3444-5C>T
|
rs9445051
|
0.19475
|
|
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)
|
rs3864017
|
0.19295
|
|
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val)
|
rs449643
|
0.19166
|
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
|
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser)
|
rs3803403
|
0.19072
|
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
|
NM_006514.4(SCN10A):c.2937C>T (p.Gly979=)
|
rs59468016
|
0.18899
|
|
NM_001164508.2(NEB):c.3901= (p.Tyr1301=)
|
rs6711382
|
0.18897
|
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
|
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr)
|
rs1803274
|
0.18493
|
|
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=)
|
rs3816884
|
0.18399
|
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
|
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly)
|
rs11993776
|
0.18341
|
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
|
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu)
|
rs3803405
|
0.18268
|
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
|
NM_000383.4(AIRE):c.99T>C (p.Ala33=)
|
rs3746964
|
0.18036
|
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
|
NM_053025.4(MYLK):c.1651+6T>A
|
rs820329
|
0.17955
|
|
NM_005732.4(RAD50):c.551+19G>A
|
rs17166050
|
0.17902
|
|
NM_004304.5(ALK):c.3036G>A (p.Thr1012=)
|
rs2293563
|
0.17851
|
|
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=)
|
rs2303644
|
0.17766
|
|
NM_001379200.1(TBX1):c.960A>G (p.Ala320=)
|
rs41298840
|
0.17709
|
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.17704
|
|
NM_001379200.1(TBX1):c.447T>C (p.Phe149=)
|
rs41298814
|
0.17676
|
|
NM_014297.5(ETHE1):c.6G>A (p.Ala2=)
|
rs3810381
|
0.17604
|
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
|
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile)
|
rs35813871
|
0.17564
|
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
|
NM_001164508.2(NEB):c.3879+20G>T
|
rs12618063
|
0.17493
|
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
|
NM_004415.4(DSP):c.1dup (p.Met1fs)
|
rs17133512
|
0.17362
|
|
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)
|
rs17737379
|
0.17356
|
|
NM_053025.4(MYLK):c.62C>A (p.Pro21His)
|
rs28497577
|
0.17349
|
|
NM_032578.4(MYPN):c.1875C>T (p.Pro625=)
|
rs2673793
|
0.17340
|
|
NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=)
|
rs61732911
|
0.17325
|
|
NM_014244.5(ADAMTS2):c.858C>T (p.His286=)
|
rs66565583
|
0.17241
|
|
NM_144670.6(A2ML1):c.2909G>A (p.Cys970Tyr)
|
rs1558526
|
0.17216
|
|
NM_198129.4(LAMA3):c.8445C>A (p.Asn2815Lys)
|
rs1154232
|
0.17201
|
|
NM_001458.5(FLNC):c.2265+12C>G
|
rs2291566
|
0.17192
|
|
NM_006073.4(TRDN):c.1370-11C>A
|
rs9401658
|
0.16989
|
|
NM_002317.7(LOX):c.473G>A (p.Arg158Gln)
|
rs1800449
|
0.16973
|
|
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)
|
rs56110889
|
0.16907
|
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
|
NM_000245.4(MET):c.1944A>G (p.Gln648=)
|
rs13223756
|
0.16754
|
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
|
NM_000093.5(COL5A1):c.2431-25G>A
|
rs41310213
|
0.16712
|
|
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)
|
rs17720303
|
0.16644
|
|
NM_024426.6(WT1):c.1122A>G (p.Arg374=)
|
rs16754
|
0.16617
|
|
NM_000152.5(GAA):c.642C>T (p.Ser214=)
|
rs1800301
|
0.16610
|
|
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=)
|
rs4148221
|
0.16563
|
|
NM_000203.5(IDUA):c.1164G>C (p.Thr388=)
|
rs6836258
|
0.16540
|
|
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly)
|
rs28494009
|
0.16504
|
|
NM_001267550.2(TTN):c.98098+9T>A
|
rs2288325
|
0.16490
|
|
NM_001378969.1(KCND3):c.1269+15C>A
|
rs3738298
|
0.16477
|
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
|
NM_001267550.2(TTN):c.104988C>T (p.Val34996=)
|
rs3829748
|
0.16457
|
|
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)
|
rs12693166
|
0.16435
|
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
|
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=)
|
rs35112591
|
0.16327
|
|
NM_001242957.3(MAK):c.156+25C>T
|
rs2272883
|
0.16324
|
|
NM_145046.5(CALR3):c.702C>T (p.Asp234=)
|
rs10403020
|
0.16282
|
|
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser)
|
rs12693164
|
0.16204
|
|
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn)
|
rs13390491
|
0.16202
|
|
NM_001365088.1(SLC12A6):c.1333+20G>T
|
rs2290941
|
0.16150
|
|
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=)
|
rs17236798
|
0.16144
|
|
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=)
|
rs2290940
|
0.16143
|
|
NM_000237.3(LPL):c.1164C>A (p.Thr388=)
|
rs316
|
0.15994
|
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
|
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)
|
rs11558492
|
0.15938
|
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
|
NM_004006.3(DMD):c.7728T>C (p.Asn2576=)
|
rs1801188
|
0.15883
|
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.15861
|
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
|
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=)
|
rs3816885
|
0.15729
|
|
NM_004646.4(NPHS1):c.2289C>T (p.Val763=)
|
rs437168
|
0.15697
|
|
NM_006514.4(SCN10A):c.3192G>A (p.Thr1064=)
|
rs6791171
|
0.15667
|
|
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=)
|
rs2857265
|
0.15539
|
|
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)
|
rs3731748
|
0.15537
|
|
NM_000532.5(PCCB):c.654+20T>C
|
rs3821445
|
0.15527
|
|
NM_053025.4(MYLK):c.782T>C (p.Val261Ala)
|
rs3796164
|
0.15515
|
|
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=)
|
rs2291568
|
0.15512
|
|
NM_006231.4(POLE):c.5707C>T (p.Leu1903=)
|
rs5744990
|
0.15505
|
|
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=)
|
rs2066836
|
0.15395
|
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
|
NM_024426.6(WT1):c.345C>T (p.Pro115=)
|
rs1799925
|
0.15374
|
|
NM_201596.3(CACNB2):c.*17T>C
|
rs58830289
|
0.15250
|
|
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)
|
rs7951904
|
0.15081
|
|
NM_000531.6(OTC):c.299-8T>A
|
rs73196229
|
0.15031
|
|
NM_006939.4(SOS2):c.3490-18A>C
|
rs79858475
|
0.14981
|
|
NM_004655.4(AXIN2):c.1712+19G>T
|
rs7219582
|
0.14767
|
|
NM_000179.3(MSH6):c.276A>G (p.Pro92=)
|
rs1800932
|
0.14697
|
|
NM_016169.4(SUFU):c.1299T>C (p.Ile433=)
|
rs17114803
|
0.14628
|
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
|
NM_006767.4(LZTR1):c.1683C>T (p.Arg561=)
|
rs4822790
|
0.14494
|
|
NM_000237.3(LPL):c.*9G>A
|
rs4922115
|
0.14446
|
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
|
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)
|
rs2493292
|
0.14386
|
|
NM_022114.4(PRDM16):c.2603+20C>T
|
rs2493291
|
0.14355
|
|
NM_000126.4(ETFA):c.39+12C>G
|
rs62027051
|
0.14273
|
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
|
NM_000282.4(PCCA):c.627A>G (p.Ala209=)
|
rs538229
|
0.14245
|
|
NM_001114753.3(ENG):c.207G>A (p.Leu69=)
|
rs11545664
|
0.14184
|
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
|
NM_000393.5(COL5A2):c.852+14C>T
|
rs56310996
|
0.14063
|
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
|
NM_001999.4(FBN2):c.6511+15A>G
|
rs56131649
|
0.14023
|
|
NM_006172.4(NPPA):c.123+16C>T
|
rs5064
|
0.13980
|
|
NM_004655.4(AXIN2):c.1060-17C>T
|
rs35399989
|
0.13976
|
|
NM_002691.4(POLD1):c.463+8G>T
|
rs1726802
|
0.13898
|
|
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser)
|
rs12140311
|
0.13867
|
|
NM_002691.4(POLD1):c.356G>A (p.Arg119His)
|
rs1726801
|
0.13815
|
|
NM_001034853.2(RPGR):c.1245+16A>G
|
rs5918522
|
0.13807
|
|
NM_017849.4(TMEM127):c.621G>A (p.Ala207=)
|
rs3852673
|
0.13717
|
|
NM_000535.7(PMS2):c.1621= (p.Lys541=)
|
rs2228006
|
0.13518
|
|
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
|
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)
|
rs1051339
|
0.13459
|
|
NM_000512.5(GALNS):c.244+19C>T
|
rs35137494
|
0.13406
|
|
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr)
|
rs7830743
|
0.13382
|
|
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)
|
rs16866406
|
0.13367
|
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
|
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)
|
rs6472
|
0.13352
|
|
NM_000090.4(COL3A1):c.1293+15T>A
|
rs2271679
|
0.13320
|
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
|
NM_024426.6(WT1):c.609C>T (p.Asn203=)
|
rs2234583
|
0.13287
|
|
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)
|
rs10070365
|
0.13267
|
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
|
NM_021023.6(CFHR3):c.786A>T (p.Pro262=)
|
rs149352569
|
0.13118
|
|
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)
|
rs28362581
|
0.13084
|
|
NM_000393.5(COL5A2):c.568-10G>A
|
rs58106884
|
0.13056
|
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
|
NM_006506.5(RASA2):c.2016T>C (p.Asn672=)
|
rs295322
|
0.12892
|
|
NM_004006.3(DMD):c.837G>A (p.Thr279=)
|
rs1800265
|
0.12849
|
|
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln)
|
rs2229032
|
0.12815
|
|
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser)
|
rs5744934
|
0.12807
|
|
NM_000179.3(MSH6):c.186C>A (p.Arg62=)
|
rs1042820
|
0.12806
|
|
NM_004006.3(DMD):c.1635A>G (p.Arg545=)
|
rs5927083
|
0.12751
|
|
NM_014476.6(PDLIM3):c.906-18C>T
|
rs12644280
|
0.12748
|
|
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala)
|
rs28377576
|
0.12654
|
|
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=)
|
rs1805155
|
0.12597
|
|
NM_145046.5(CALR3):c.397+10C>T
|
rs3810197
|
0.12582
|
|
NM_000169.3(GLA):c.640-16A>G
|
rs2071397
|
0.12447
|
|
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu)
|
rs3858340
|
0.12393
|
|
NM_004281.4(BAG3):c.1002T>G (p.Pro334=)
|
rs3858339
|
0.12375
|
|
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)
|
rs2235491
|
0.12316
|
|
NM_013266.4(CTNNA3):c.579+15T>G
|
rs10997691
|
0.12289
|
|
NM_000215.4(JAK3):c.1701+9A>G
|
rs3212752
|
0.12273
|
|
NM_002691.4(POLD1):c.810T>C (p.Ala270=)
|
rs1143666
|
0.12250
|
|
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)
|
rs2229975
|
0.12249
|
|
NM_005472.5(KCNE3):c.198T>C (p.Phe66=)
|
rs2270676
|
0.12227
|
|
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)
|
rs982424
|
0.12209
|
|
NM_001458.5(FLNC):c.1032C>T (p.Val344=)
|
rs2291562
|
0.12206
|
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
|
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)
|
rs4988496
|
0.12048
|
|
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)
|
rs17852293
|
0.12044
|
|
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=)
|
rs11995760
|
0.11999
|
|
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=)
|
rs920628
|
0.11991
|
|
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)
|
rs1800440
|
0.11965
|
|
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg)
|
rs438999
|
0.11951
|
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
|
NM_000233.4(LHCGR):c.605+52del
|
rs111834744
|
0.11909
|
|
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)
|
rs1040461
|
0.11850
|
|
NM_001458.5(FLNC):c.1458C>A (p.Pro486=)
|
rs2291563
|
0.11830
|
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11812
|
|
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro)
|
rs3732486
|
0.11664
|
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
|
NM_017617.5(NOTCH1):c.2740+12C>T
|
rs36119806
|
0.11457
|
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
|
NM_002691.4(POLD1):c.3218+10A>G
|
rs2463239
|
0.11362
|
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
|
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)
|
rs12748250
|
0.11215
|
|
NM_015166.4(MLC1):c.594C>T (p.Tyr198=)
|
rs6010165
|
0.11145
|
|
NM_004655.4(AXIN2):c.2062C>T (p.Leu688=)
|
rs35415678
|
0.11118
|
|
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)
|
rs32209
|
0.11103
|
|
NM_001458.5(FLNC):c.720T>C (p.Ile240=)
|
rs2291560
|
0.11080
|
|
NM_006361.6(HOXB13):c.513T>C (p.Ser171=)
|
rs9900627
|
0.11073
|
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
|
NM_001458.5(FLNC):c.795T>C (p.Gly265=)
|
rs2291561
|
0.10971
|
|
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)
|
rs2229354
|
0.10948
|
|
NM_005502.4(ABCA1):c.814-14dup
|
rs2067484
|
0.10846
|
|
NM_004304.5(ALK):c.4338C>T (p.Thr1446=)
|
rs56132472
|
0.10831
|
|
NM_144670.6(A2ML1):c.3843T>C (p.Val1281=)
|
rs61749073
|
0.10820
|
|
NM_000093.5(COL5A1):c.3745-18G>A
|
rs45556931
|
0.10766
|
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
|
NM_000053.4(ATP7B):c.2866-13G>C
|
rs7325983
|
0.10642
|
|
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)
|
rs17533489
|
0.10642
|
|
NM_002691.4(POLD1):c.2244T>C (p.Ser748=)
|
rs1274607
|
0.10634
|
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
|
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)
|
rs1061361
|
0.10447
|
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
|
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=)
|
rs2272945
|
0.10302
|
|
NM_001371904.1(APOA5):c.132C>A (p.Ile44=)
|
rs12287066
|
0.10299
|
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
|
NM_001365088.1(SLC12A6):c.1825-13C>T
|
rs74010036
|
0.10170
|
|
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=)
|
rs61746140
|
0.10149
|
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
|
NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser)
|
rs17003955
|
0.10059
|
|
NM_000215.4(JAK3):c.1915-30C>T
|
rs2072496
|
0.10048
|
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
|
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg)
|
rs35759833
|
0.09968
|
|
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=)
|
rs2291312
|
0.09947
|
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
|
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=)
|
rs13054377
|
0.09863
|
|
NM_001267550.2(TTN):c.68217T>C (p.His22739=)
|
rs10497517
|
0.09829
|
|
NM_005502.4(ABCA1):c.-18G>C
|
rs1800978
|
0.09771
|
|
NM_002691.4(POLD1):c.1485C>T (p.Thr495=)
|
rs2230245
|
0.09769
|
|
NM_001875.5(CPS1):c.2193-15G>T
|
rs2287600
|
0.09707
|
|
NM_001164508.2(NEB):c.6184-14T>A
|
rs10173335
|
0.09664
|
|
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)
|
rs36086089
|
0.09592
|
|
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=)
|
rs4764655
|
0.09551
|
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
|
NM_174936.4(PCSK9):c.-64C>T
|
rs45448095
|
0.09487
|
|
NM_001999.4(FBN2):c.5823T>C (p.His1941=)
|
rs11955288
|
0.09446
|
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
|
NM_001368809.2(AMPD2):c.91+180C>G
|
rs186745159
|
0.09427
|
|
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)
|
rs143793502
|
0.09373
|
|
NM_000237.3(LPL):c.1428-11C>T
|
rs11570891
|
0.09356
|
|
NM_001034853.2(RPGR):c.1572+11A>G
|
rs62635008
|
0.09352
|
|
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)
|
rs35441642
|
0.09351
|
|
NM_002691.4(POLD1):c.3121-19C>T
|
rs3212330
|
0.09350
|
|
NM_033118.4(MYLK2):c.1710+15A>G
|
rs6060980
|
0.09349
|
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
|
NM_001458.5(FLNC):c.147C>T (p.His49=)
|
rs3734972
|
0.09267
|
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
|
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)
|
rs3807153
|
0.09195
|
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
|
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=)
|
rs6732060
|
0.09129
|
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
|
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro)
|
rs7630989
|
0.08988
|
|
NM_001384140.1(PCDH15):c.92-13796_92-13795insC
|
rs144361159
|
0.08987
|
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08958
|
|
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)
|
rs328
|
0.08934
|
|
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
|
rs34312154
|
0.08810
|
|
NM_006393.3(NEBL):c.2997A>G (p.Thr999=)
|
rs2296614
|
0.08806
|
|
NM_000512.5(GALNS):c.634-20C>T
|
rs17603837
|
0.08794
|
|
NM_080424.4(SP110):c.619G>A (p.Glu207Lys)
|
rs9061
|
0.08779
|
|
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=)
|
rs75770585
|
0.08775
|
|
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)
|
rs2306986
|
0.08726
|
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
|
NM_005094.4(SLC27A4):c.625G>A (p.Gly209Ser)
|
rs2240953
|
0.08653
|
|
NM_001105206.3(LAMA4):c.1710T>C (p.Ser570=)
|
rs3752577
|
0.08618
|
|
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)
|
rs2920048
|
0.08600
|
|
NM_001040151.2(SCN3B):c.438C>T (p.Thr146=)
|
rs1275085
|
0.08505
|
|
NM_006258.4(PRKG1):c.479-9C>T
|
rs45615337
|
0.08494
|
|
NM_004655.4(AXIN2):c.956+16A>G
|
rs35285779
|
0.08430
|
|
NM_198129.4(LAMA3):c.5322C>T (p.Phe1774=)
|
rs958631
|
0.08419
|
|
NM_000214.3(JAG1):c.2214A>C (p.Thr738=)
|
rs1801140
|
0.08364
|
|
NM_001378969.1(KCND3):c.264C>T (p.Pro88=)
|
rs17221819
|
0.08351
|
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
|
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)
|
rs4893852
|
0.08349
|
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
|
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)
|
rs3792683
|
0.08314
|
|
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=)
|
rs6717213
|
0.08304
|
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
|
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)
|
rs62621236
|
0.08189
|
|
NM_174936.4(PCSK9):c.524-11G>A
|
rs11800231
|
0.08151
|
|
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=)
|
rs5480
|
0.08122
|
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
|
NM_000344.4(SMN1):c.*3+80T>G
|
rs143838139
|
0.08111
|
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
|
NM_016492.5(RANGRF):c.437+16C>T
|
rs869773
|
0.08087
|
|
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)
|
rs12968116
|
0.08072
|
|
NM_001458.5(FLNC):c.850+18G>A
|
rs55907818
|
0.08058
|
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
|
NM_000214.3(JAG1):c.2382C>T (p.Ser794=)
|
rs56225585
|
0.07991
|
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
|
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly)
|
rs34598813
|
0.07866
|
|
NM_000093.5(COL5A1):c.1569+15C>T
|
rs62574081
|
0.07860
|
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
|
NM_005477.3(HCN4):c.1558C>T (p.Leu520=)
|
rs12909882
|
0.07848
|
|
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu)
|
rs13398235
|
0.07839
|
|
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)
|
rs56207956
|
0.07828
|
|
NM_001105206.3(LAMA4):c.1357+4G>T
|
rs6917763
|
0.07821
|
|
NM_000553.6(WRN):c.340G>A (p.Val114Ile)
|
rs2230009
|
0.07797
|
|
NM_001267550.2(TTN):c.25921+10C>T
|
rs10183237
|
0.07769
|
|
NM_001999.4(FBN2):c.4718-13T>C
|
rs10044959
|
0.07765
|
|
NM_006231.4(POLE):c.755C>T (p.Ala252Val)
|
rs5744751
|
0.07688
|
|
NM_001351132.2(PEX5):c.551+71C>T
|
rs73050080
|
0.07647
|
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
|
NM_017636.4(TRPM4):c.2380C>T (p.Leu794=)
|
rs3745301
|
0.07523
|
|
NM_000138.5(FBN1):c.5066-35C>T
|
rs77105137
|
0.07470
|
|
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)
|
rs1800937
|
0.07457
|
|
NM_003060.4(SLC22A5):c.-77G>A
|
rs13180295
|
0.07424
|
|
NM_003060.4(SLC22A5):c.-78C>T
|
rs13180043
|
0.07424
|
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
|
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)
|
rs16945474
|
0.07291
|
|
NM_001164508.2(NEB):c.25150+12G>A
|
rs4414676
|
0.07283
|
|
NM_000264.5(PTCH1):c.1504-8T>C
|
rs2277184
|
0.07277
|
|
NM_002474.3(MYH11):c.2208C>T (p.Ile736=)
|
rs12931799
|
0.07252
|
|
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)
|
rs4988498
|
0.07235
|
|
NM_000245.4(MET):c.534C>T (p.Ser178=)
|
rs35775721
|
0.07211
|
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
|
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
|
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu)
|
rs6723526
|
0.07129
|
|
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg)
|
rs58272575
|
0.07062
|
|
NM_006231.4(POLE):c.2469-15G>A
|
rs5744833
|
0.07057
|
|
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro)
|
rs34908836
|
0.07052
|
|
NM_144997.7(FLCN):c.397-13G>A
|
rs3744123
|
0.07012
|
|
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)
|
rs2291628
|
0.07011
|
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
|
NM_000527.5(LDLR):c.1617C>T (p.Pro539=)
|
rs5929
|
0.07003
|
|
NM_001999.4(FBN2):c.7013-5T>C
|
rs28763927
|
0.06995
|
|
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val)
|
rs61744947
|
0.06981
|
|
NM_000383.4(AIRE):c.538+42del
|
rs3214074
|
0.06978
|
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
|
NM_000214.3(JAG1):c.744A>G (p.Pro248=)
|
rs10485741
|
0.06947
|
|
NM_003480.4(MFAP5):c.59-4A>T
|
rs12833793
|
0.06923
|
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
|
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)
|
rs6756629
|
0.06901
|
|
NM_022437.3(ABCG8):c.453G>A (p.Val151=)
|
rs56132765
|
0.06877
|
|
NM_001105206.3(LAMA4):c.4716C>T (p.Leu1572=)
|
rs35679345
|
0.06874
|
|
NM_006514.4(SCN10A):c.3088-20T>C
|
rs11129804
|
0.06869
|
|
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)
|
rs35281128
|
0.06868
|
|
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)
|
rs1800331
|
0.06866
|
|
NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=)
|
rs35931910
|
0.06807
|
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
|
NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
0.06802
|
|
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=)
|
rs7221086
|
0.06793
|
|
NM_001114753.3(ENG):c.1029C>T (p.Thr343=)
|
rs3739817
|
0.06792
|
|
NM_014000.3(VCL):c.768T>C (p.Asp256=)
|
rs56413529
|
0.06776
|
|
NM_014000.3(VCL):c.339G>A (p.Arg113=)
|
rs56314318
|
0.06767
|
|
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)
|
rs3732487
|
0.06754
|
|
NM_004484.4(GPC3):c.1500T>C (p.Asp500=)
|
rs2314298
|
0.06746
|
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
|
NM_000393.5(COL5A2):c.315= (p.Thr105=)
|
rs4128539
|
0.06734
|
|
NM_144670.6(A2ML1):c.1275A>G (p.Val425=)
|
rs7308106
|
0.06706
|
|
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=)
|
rs2742343
|
0.06625
|
|
NM_006506.5(RASA2):c.2519+10T>G
|
rs295324
|
0.06624
|
|
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)
|
rs11887534
|
0.06566
|
|
NM_003640.5(ELP1):c.545T>A (p.Met182Lys)
|
rs10521092
|
0.06528
|
|
NM_000170.3(GLDC):c.438G>A (p.Thr146=)
|
rs13289273
|
0.06458
|
|
NM_000890.5(KCNJ5):c.937+7C>T
|
rs45516097
|
0.06448
|
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
|
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
|
rs1801591
|
0.06414
|
|
NM_017617.5(NOTCH1):c.5639-12C>T
|
rs11574908
|
0.06332
|
|
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile)
|
rs34992370
|
0.06330
|
|
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
0.06258
|
|
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg)
|
rs41283344
|
0.06229
|
|
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala)
|
rs75370906
|
0.06202
|
|
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val)
|
rs11568364
|
0.06201
|
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
|
NM_000371.4(TTR):c.337-18G>C
|
rs36204272
|
0.06198
|
|
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val)
|
rs16873741
|
0.06184
|
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
|
NM_001002294.3(FMO3):c.769G>A (p.Val257Met)
|
rs1736557
|
0.06174
|
|
NM_000287.4(PEX6):c.2364G>A (p.Val788=)
|
rs2274515
|
0.06152
|
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
|
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)
|
rs61729545
|
0.06122
|
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
|
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=)
|
rs112034360
|
0.06109
|
|
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)
|
rs1127354
|
0.06104
|
|
NM_000137.4(FAH):c.1056C>T (p.Ser352=)
|
rs1801374
|
0.06041
|
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
|
NM_001267550.2(TTN):c.29042-16G>A
|
rs10203085
|
0.05999
|
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
|
NM_032588.4(TRIM63):c.267G>T (p.Val89=)
|
rs35123100
|
0.05922
|
|
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
|
NM_005502.4(ABCA1):c.1195-13C>T
|
rs2297399
|
0.05862
|
|
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
|
NM_017636.4(TRPM4):c.375G>A (p.Ser125=)
|
rs34333830
|
0.05846
|
|
NM_000237.3(LPL):c.435G>A (p.Glu145=)
|
rs248
|
0.05843
|
|
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)
|
rs11646374
|
0.05837
|
|
NM_006493.4(CLN5):c.173+18C>T
|
rs112141862
|
0.05807
|
|
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=)
|
rs16873732
|
0.05790
|
|
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)
|
rs3731744
|
0.05786
|
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
|
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=)
|
rs1442320
|
0.05781
|
|
NM_004484.4(GPC3):c.1626A>G (p.Ala542=)
|
rs61754631
|
0.05751
|
|
NM_006393.3(NEBL):c.1051A>G (p.Met351Val)
|
rs4025981
|
0.05741
|
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
|
NM_001035.3(RYR2):c.1611G>A (p.Leu537=)
|
rs78281932
|
0.05734
|
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
|
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)
|
rs2229738
|
0.05682
|
|
NM_020778.5(ALPK3):c.3954G>A (p.Glu1318=)
|
rs34122391
|
0.05659
|
|
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)
|
rs2230898
|
0.05658
|
|
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys)
|
rs4748728
|
0.05648
|
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
|
NM_006231.4(POLE):c.4444+4T>A
|
rs5744941
|
0.05640
|
|
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)
|
rs3829749
|
0.05620
|
|
NM_017636.4(TRPM4):c.2210+11C>G
|
rs1175796
|
0.05613
|
|
NM_000245.4(MET):c.1131C>T (p.Ile377=)
|
rs28444388
|
0.05590
|
|
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=)
|
rs12993099
|
0.05590
|
|
NM_001010874.5(TECRL):c.133C>T (p.Pro45Ser)
|
rs61744866
|
0.05584
|
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
|
NM_013266.4(CTNNA3):c.460-13T>C
|
rs7903421
|
0.05538
|
|
NM_014391.3(ANKRD1):c.346-19T>A
|
rs10881854
|
0.05519
|
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
|
NM_006393.3(NEBL):c.1132G>C (p.Asp378His)
|
rs41277370
|
0.05503
|
|
NM_003172.4(SURF1):c.573C>G (p.Thr191=)
|
rs28715079
|
0.05492
|
|
NM_001371904.1(APOA5):c.457G>A (p.Val153Met)
|
rs3135507
|
0.05465
|
|
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)
|
rs41309679
|
0.05446
|
|
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val)
|
rs73040625
|
0.05426
|
|
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)
|
rs3757112
|
0.05389
|
|
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)
|
rs1800067
|
0.05364
|
|
NM_004006.3(DMD):c.4234-13A>G
|
rs41303181
|
0.05327
|
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
|
NM_002834.5(PTPN11):c.854-21C>T
|
rs41279090
|
0.05308
|
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
|
NM_004937.3(CTNS):c.462T>C (p.Ser154=)
|
rs77453839
|
0.05257
|
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
|
NM_000088.4(COL1A1):c.642+25T>C
|
rs73987448
|
0.05218
|
|
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=)
|
rs1804670
|
0.05209
|
|
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)
|
rs2303269
|
0.05170
|
|
NM_001458.5(FLNC):c.*1A>G
|
rs114713626
|
0.05145
|
|
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=)
|
rs56047641
|
0.05131
|
|
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=)
|
rs55863869
|
0.05117
|
|
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln)
|
rs11575542
|
0.05076
|
|
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=)
|
rs2742344
|
0.05063
|
|
NM_000383.4(AIRE):c.1203T>C (p.Pro401=)
|
rs61737072
|
0.05045
|
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05021
|
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05020
|
|
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)
|
rs11558747
|
0.05001
|
|
NM_001999.4(FBN2):c.5675-9del
|
rs112666443
|
0.05000
|
|
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)
|
rs1805389
|
0.04996
|
|
NM_003172.4(SURF1):c.280T>C (p.Leu94=)
|
rs28615629
|
0.04975
|
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
|
NM_000237.3(LPL):c.405G>A (p.Val135=)
|
rs1121923
|
0.04960
|
|
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)
|
rs35219601
|
0.04960
|
|
NM_001386140.1(MTTP):c.285G>C (p.Gln95His)
|
rs61733139
|
0.04959
|
|
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=)
|
rs35998713
|
0.04956
|
|
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
|
rs17679445
|
0.04944
|
|
NM_005502.4(ABCA1):c.6401+13A>G
|
rs2066881
|
0.04938
|
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
|
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn)
|
rs2306636
|
0.04907
|
|
NM_000823.4(GHRHR):c.366+13T>G
|
rs4988499
|
0.04905
|
|
NM_005477.3(HCN4):c.2556G>A (p.Pro852=)
|
rs117819825
|
0.04888
|
|
NM_014244.5(ADAMTS2):c.2291-8A>G
|
rs140401199
|
0.04871
|
|
NM_000321.3(RB1):c.1390-14A>T
|
rs9535023
|
0.04866
|
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
|
NM_022114.4(PRDM16):c.677-16G>A
|
rs192554855
|
0.04854
|
|
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)
|
rs1801246
|
0.04852
|
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
|
NM_000393.5(COL5A2):c.403-42A>G
|
rs73051214
|
0.04827
|
|
NM_144670.6(A2ML1):c.186C>T (p.Thr62=)
|
rs17792974
|
0.04826
|
|
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=)
|
rs2291308
|
0.04799
|
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
|
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
|
rs12476289
|
0.04792
|
|
NM_000823.4(GHRHR):c.564C>T (p.His188=)
|
rs740336
|
0.04789
|
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
|
NM_004006.3(DMD):c.8810= (p.Arg2937=)
|
rs1800280
|
0.04757
|
|
NM_030662.4(MAP2K2):c.450+15G>T
|
rs10424545
|
0.04749
|
|
NM_001918.5(DBT):c.1210-10T>A
|
rs183058253
|
0.04736
|
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
|
NM_001366110.1(PAX4):c.474C>T (p.Gly158=)
|
rs77039439
|
0.04703
|
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
|
NM_024426.6(WT1):c.1074A>G (p.Gln358=)
|
rs2234590
|
0.04693
|
|
NM_022437.3(ABCG8):c.675G>A (p.Val225=)
|
rs9282575
|
0.04664
|
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
|
NM_013266.4(CTNNA3):c.1872C>A (p.Val624=)
|
rs10997034
|
0.04630
|
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
|
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=)
|
rs12172926
|
0.04612
|
|
NM_005534.4(IFNGR2):c.173C>G (p.Thr58Arg)
|
rs4986958
|
0.04587
|
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
|
NM_004821.3(HAND1):c.468T>G (p.Ser156=)
|
rs34402828
|
0.04584
|
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
|
NM_002691.4(POLD1):c.1548C>T (p.Ala516=)
|
rs2230247
|
0.04514
|
|
NM_002691.4(POLD1):c.1539G>A (p.Leu513=)
|
rs2230246
|
0.04513
|
|
NM_001999.4(FBN2):c.6292+12C>A
|
rs10042349
|
0.04495
|
|
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)
|
rs28374544
|
0.04474
|
|
NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
|
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)
|
rs143090627
|
0.04452
|
|
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg)
|
rs116482870
|
0.04448
|
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
|
NM_004821.3(HAND1):c.531G>C (p.Arg177=)
|
rs34198899
|
0.04411
|
|
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp)
|
rs34282046
|
0.04400
|
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
|
NM_001267550.2(TTN):c.26200+19A>T
|
rs2562837
|
0.04396
|
|
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=)
|
rs2742332
|
0.04384
|
|
NM_005343.4(HRAS):c.111+15G>A
|
rs41258054
|
0.04363
|
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
|
NM_000093.5(COL5A1):c.2745+15A>T
|
rs79481146
|
0.04340
|
|
NM_022114.4(PRDM16):c.2502C>T (p.Gly834=)
|
rs115226069
|
0.04338
|
|
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser)
|
rs17470454
|
0.04338
|
|
NM_181486.4(TBX5):c.309C>T (p.Leu103=)
|
rs28730763
|
0.04319
|
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
|
NM_017636.4(TRPM4):c.1151-20T>A
|
rs11668638
|
0.04248
|
|
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp)
|
rs11757455
|
0.04245
|
|
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln)
|
rs10139784
|
0.04245
|
|
NM_000302.4(PLOD1):c.644-17T>G
|
rs41307745
|
0.04239
|
|
NM_032578.4(MYPN):c.2163C>A (p.Ala721=)
|
rs71584491
|
0.04239
|
|
NM_004655.4(AXIN2):c.432T>C (p.Ile144=)
|
rs2240307
|
0.04207
|
|
NM_030662.4(MAP2K2):c.528+20A>G
|
rs73918030
|
0.04206
|
|
NM_000020.3(ACVRL1):c.747G>A (p.Val249=)
|
rs1058563
|
0.04166
|
|
NM_001110556.2(FLNA):c.374-19G>A
|
rs2070817
|
0.04163
|
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
|
NM_000022.4(ADA):c.390G>A (p.Val130=)
|
rs61737144
|
0.04145
|
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
|
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)
|
rs16866380
|
0.04073
|
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.04057
|
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
|
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)
|
rs1801247
|
0.04023
|
|
NM_004628.5(XPC):c.1475G>A (p.Arg492His)
|
rs2227999
|
0.03986
|
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03966
|
|
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)
|
rs4894028
|
0.03961
|
|
NM_001386140.1(MTTP):c.1769+14C>T
|
rs41275713
|
0.03960
|
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
|
NM_002471.4(MYH6):c.4960-17A>T
|
rs28730764
|
0.03950
|
|
NM_012186.3(FOXE3):c.-14G>A
|
rs181190356
|
0.03946
|
|
NM_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
|
NM_000156.6(GAMT):c.571-6G>A
|
rs2074899
|
0.03927
|
|
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=)
|
rs6869261
|
0.03924
|
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
|
NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=)
|
rs2228342
|
0.03922
|
|
NM_000393.5(COL5A2):c.3411= (p.Gly1137=)
|
rs6434312
|
0.03908
|
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
|
NM_013266.4(CTNNA3):c.1531+16T>C
|
rs78806593
|
0.03870
|
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
|
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln)
|
rs4534
|
0.03864
|
|
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=)
|
rs56179521
|
0.03852
|
|
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu)
|
rs17124677
|
0.03851
|
|
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser)
|
rs34997494
|
0.03846
|
|
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg)
|
rs61747004
|
0.03845
|
|
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu)
|
rs35137272
|
0.03845
|
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
|
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn)
|
rs17124662
|
0.03831
|
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
|
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)
|
rs2066835
|
0.03773
|
|
NM_022437.3(ABCG8):c.-15A>C
|
rs72647315
|
0.03755
|
|
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu)
|
rs34736717
|
0.03743
|
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
|
NM_000512.5(GALNS):c.846C>T (p.Phe282=)
|
rs35232749
|
0.03726
|
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
|
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)
|
rs3743544
|
0.03694
|
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
|
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
|
NM_000543.5(SMPD1):c.714A>G (p.Ala238=)
|
rs2682091
|
0.03664
|
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
|
NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr)
|
rs73407505
|
0.03644
|
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
|
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter)
|
rs75624587
|
0.03607
|
|
NM_000433.4(NCF2):c.1167C>A (p.His389Gln)
|
rs17849502
|
0.03605
|
|
NM_053025.4(MYLK):c.411C>G (p.Ser137=)
|
rs55760507
|
0.03602
|
|
NM_002471.4(MYH6):c.999C>T (p.Thr333=)
|
rs78107039
|
0.03596
|
|
NM_017668.3(NDE1):c.948-5739G>A
|
rs34839877
|
0.03595
|
|
NM_002691.4(POLD1):c.1860G>A (p.Thr620=)
|
rs1726790
|
0.03590
|
|
NM_002691.4(POLD1):c.234C>G (p.Arg78=)
|
rs2228665
|
0.03571
|
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
|
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)
|
rs114703967
|
0.03559
|
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
|
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
|
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs)
|
rs144686314
|
0.03504
|
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
|
NM_001032283.3(TMPO):c.565+1369C>G
|
rs35969221
|
0.03471
|
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
|
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=)
|
rs34975493
|
0.03463
|
|
NM_001711.6(BGN):c.564C>T (p.Ile188=)
|
rs2070933
|
0.03463
|
|
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)
|
rs17884724
|
0.03446
|
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
|
NM_002617.4(PEX10):c.*11G>A
|
rs3795270
|
0.03427
|
|
NM_144670.6(A2ML1):c.2550= (p.Asp850=)
|
rs1860926
|
0.03420
|
|
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
0.03419
|
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
|
NM_001105206.3(LAMA4):c.1190-8C>G
|
rs73538515
|
0.03405
|
|
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr)
|
rs73730479
|
0.03401
|
|
NM_000245.4(MET):c.144G>A (p.Ala48=)
|
rs11762213
|
0.03399
|
|
NM_005188.4(CBL):c.2592C>T (p.Leu864=)
|
rs1893177
|
0.03391
|
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
|
NM_004937.3(CTNS):c.970+15G>A
|
rs76153698
|
0.03340
|
|
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)
|
rs2230795
|
0.03328
|
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
|
NM_053025.4(MYLK):c.3652+11G>A
|
rs41271437
|
0.03294
|
|
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)
|
rs45467297
|
0.03285
|
|
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp)
|
rs41291058
|
0.03285
|
|
NM_006073.4(TRDN):c.1105+5G>A
|
rs41284430
|
0.03253
|
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
|
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)
|
rs17885864
|
0.03243
|
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_017636.4(TRPM4):c.1041G>T (p.Leu347=)
|
rs61732831
|
0.03220
|
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
|
NM_001267550.2(TTN):c.65575+19T>G
|
rs72646865
|
0.03204
|
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
|
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)
|
rs78511105
|
0.03168
|
|
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn)
|
rs1726803
|
0.03166
|
|
NM_000143.4(FH):c.1302C>T (p.Cys434=)
|
rs2070080
|
0.03163
|
|
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=)
|
rs34943562
|
0.03158
|
|
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe)
|
rs35877720
|
0.03139
|
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
|
NM_001377540.1(SLMAP):c.1300+14A>G
|
rs111294347
|
0.03108
|
|
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser)
|
rs61749867
|
0.03097
|
|
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=)
|
rs61730765
|
0.03096
|
|
NM_005956.4(MTHFD1):c.2305C>T (p.Leu769Phe)
|
rs17857382
|
0.03087
|
|
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=)
|
rs1131176
|
0.03087
|
|
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=)
|
rs20546
|
0.03085
|
|
NM_053025.4(MYLK):c.4620-12G>A
|
rs41301337
|
0.03066
|
|
NM_005751.5(AKAP9):c.3318+13C>A
|
rs73403768
|
0.03055
|
|
NM_017636.4(TRPM4):c.2982G>A (p.Ser994=)
|
rs1175810
|
0.03027
|
|
NM_004415.4(DSP):c.423-16_423-15insC
|
rs113028223
|
0.03015
|
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
|
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
0.02993
|
|
NM_024312.5(GNPTAB):c.3602+8C>A
|
rs79493678
|
0.02992
|
|
NM_000719.7(CACNA1C):c.372-15G>A
|
rs55792866
|
0.02977
|
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
|
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)
|
rs2228047
|
0.02974
|
|
NM_032588.4(TRIM63):c.12G>A (p.Lys4=)
|
rs3795690
|
0.02971
|
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
|
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met)
|
rs11944325
|
0.02959
|
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
|
NM_144997.7(FLCN):c.726A>T (p.Thr242=)
|
rs113938514
|
0.02907
|
|
NM_001148.6(ANK2):c.3510A>G (p.Val1170=)
|
rs35336373
|
0.02906
|
|
NM_003060.4(SLC22A5):c.393+17G>A
|
rs11568522
|
0.02888
|
|
NM_001267550.2(TTN):c.32393-12A>G
|
rs16866434
|
0.02884
|
|
NM_000143.4(FH):c.309C>T (p.Ala103=)
|
rs10926501
|
0.02876
|
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
|
NM_144670.6(A2ML1):c.463-9C>G
|
rs11047493
|
0.02873
|
|
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)
|
rs11574911
|
0.02871
|
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
|
NM_001037.5(SCN1B):c.207+14G>A
|
rs16969924
|
0.02860
|
|
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser)
|
rs61744220
|
0.02860
|
|
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)
|
rs80109666
|
0.02845
|
|
NM_015506.3(MMACHC):c.178G>C (p.Asp60His)
|
rs6662272
|
0.02835
|
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
|
NM_002234.4(KCNA5):c.381C>T (p.Ser127=)
|
rs45504599
|
0.02823
|
|
NM_000228.3(LAMB3):c.2702-14G>A
|
rs199838217
|
0.02820
|
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
|
NM_000501.4(ELN):c.2033-16A>G
|
rs45618836
|
0.02805
|
|
NM_001458.5(FLNC):c.2390-13C>T
|
rs78086167
|
0.02800
|
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
|
NM_001711.6(BGN):c.910-18C>T
|
rs55934508
|
0.02787
|
|
NM_013266.4(CTNNA3):c.843+17A>G
|
rs77409659
|
0.02787
|
|
NM_001458.5(FLNC):c.5669-12C>T
|
rs79790270
|
0.02786
|
|
NM_001085049.3(MRAS):c.177A>G (p.Gln59=)
|
rs16848033
|
0.02779
|
|
NM_004304.5(ALK):c.3408C>T (p.Ser1136=)
|
rs56146053
|
0.02769
|
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
|
NM_002691.4(POLD1):c.1173C>T (p.Asp391=)
|
rs2230244
|
0.02764
|
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
|
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro)
|
rs77925409
|
0.02760
|
|
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=)
|
rs114218081
|
0.02752
|
|
NM_001148.6(ANK2):c.384+19C>T
|
rs45502093
|
0.02751
|
|
NM_013975.4(LIG3):c.2472A>G (p.Gln824=)
|
rs3136022
|
0.02750
|
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
|
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val)
|
rs28715870
|
0.02748
|
|
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala)
|
rs6018008
|
0.02748
|
|
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=)
|
rs35462609
|
0.02744
|
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
|
NM_145046.5(CALR3):c.820G>A (p.Val274Ile)
|
rs12459238
|
0.02726
|
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
|
NM_001077653.2(TBX20):c.765C>A (p.Ile255=)
|
rs6950175
|
0.02695
|
|
NM_007078.3(LDB3):c.1074C>T (p.Ala358=)
|
rs45459491
|
0.02688
|
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
|
NM_000091.5(COL4A3):c.547-9A>C
|
rs55667591
|
0.02682
|
|
NM_006231.4(POLE):c.3379-5T>C
|
rs5744886
|
0.02670
|
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
|
NM_005732.4(RAD50):c.2025C>T (p.Asp675=)
|
rs34147298
|
0.02660
|
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
|
NM_000302.4(PLOD1):c.177C>T (p.Gly59=)
|
rs34032489
|
0.02651
|
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
|
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn)
|
rs17122201
|
0.02622
|
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
|
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=)
|
rs34424371
|
0.02621
|
|
NM_005502.4(ABCA1):c.2960+18G>A
|
rs60913410
|
0.02619
|
|
NM_001083116.3(PRF1):c.11G>A (p.Arg4His)
|
rs35418374
|
0.02616
|
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
|
NM_001267550.2(TTN):c.8116+19G>A
|
rs13011633
|
0.02607
|
|
NM_004415.4(DSP):c.1903+7T>C
|
rs28763962
|
0.02605
|
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
|
NM_032122.5(DTNBP1):c.667+2C>T
|
rs61739410
|
0.02578
|
|
NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu)
|
rs13059805
|
0.02575
|
|
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)
|
rs35445112
|
0.02575
|
|
NM_002691.4(POLD1):c.463+9C>T
|
rs1673046
|
0.02570
|
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
|
NM_004304.5(ALK):c.1427T>C (p.Val476Ala)
|
rs35093491
|
0.02566
|
|
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=)
|
rs61745281
|
0.02560
|
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
|
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=)
|
rs2229102
|
0.02537
|
|
NM_001042492.3(NF1):c.2544G>A (p.Gly848=)
|
rs17883704
|
0.02535
|
|
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
|
NM_000302.4(PLOD1):c.1329-20G>A
|
rs78527487
|
0.02519
|
|
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr)
|
rs80025980
|
0.02513
|
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
|
NM_144670.6(A2ML1):c.1101T>C (p.Asp367=)
|
rs61744222
|
0.02500
|
|
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp)
|
rs34291900
|
0.02496
|
|
NM_004628.5(XPC):c.622-16C>G
|
rs3731111
|
0.02487
|
|
NM_017636.4(TRPM4):c.1050+13_1050+16dup
|
rs137898843
|
0.02485
|
|
NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu)
|
rs143039156
|
0.02484
|
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
|
NM_053025.4(MYLK):c.4194C>T (p.His1398=)
|
rs17298941
|
0.02481
|
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
|
NM_006383.4(CIB2):c.303G>A (p.Ser101=)
|
rs77370542
|
0.02451
|
|
NM_004006.3(DMD):c.-8T>A
|
rs113726961
|
0.02450
|
|
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)
|
rs7908490
|
0.02441
|
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
|
NM_000441.2(SLC26A4):c.1708-18T>A
|
rs55701254
|
0.02432
|
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
|
NM_000143.4(FH):c.927G>A (p.Pro309=)
|
rs61737760
|
0.02428
|
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
|
NM_000487.6(ARSA):c.243C>T (p.Gly81=)
|
rs6151410
|
0.02425
|
|
NM_014476.6(PDLIM3):c.42C>T (p.Gly14=)
|
rs116775669
|
0.02423
|
|
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=)
|
rs8064573
|
0.02419
|
|
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His)
|
rs2562832
|
0.02406
|
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
|
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)
|
rs161628
|
0.02402
|
|
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=)
|
rs2742329
|
0.02401
|
|
NM_005901.6(SMAD2):c.1280+16T>C
|
rs72661148
|
0.02401
|
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
|
NM_004628.5(XPC):c.300G>A (p.Arg100=)
|
rs2228002
|
0.02396
|
|
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)
|
rs61735268
|
0.02395
|
|
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser)
|
rs112028242
|
0.02391
|
|
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met)
|
rs61737718
|
0.02389
|
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
|
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)
|
rs36024592
|
0.02382
|
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
|
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)
|
rs16849700
|
0.02374
|
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
|
NM_000492.4(CFTR):c.3468+2109T>C
|
rs213982
|
0.02368
|
|
NM_000214.3(JAG1):c.924C>T (p.Asn308=)
|
rs45575136
|
0.02367
|
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
|
NM_001377540.1(SLMAP):c.2145G>A (p.Gln715=)
|
rs17745496
|
0.02362
|
|
NM_001148.6(ANK2):c.3796+18G>A
|
rs66792339
|
0.02360
|
|
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
|
NM_001177316.2(SLC34A3):c.175+123C>T
|
rs111532084
|
0.02353
|
|
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)
|
rs113557405
|
0.02353
|
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
|
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)
|
rs11568525
|
0.02345
|
|
NM_006231.4(POLE):c.3126G>A (p.Lys1042=)
|
rs5744856
|
0.02344
|
|
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp)
|
rs55752937
|
0.02339
|
|
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)
|
rs726070
|
0.02339
|
|
NM_144670.6(A2ML1):c.4234A>G (p.Thr1412Ala)
|
rs7315591
|
0.02333
|
|
NM_020320.5(RARS2):c.991A>G (p.Ile331Val)
|
rs3757370
|
0.02330
|
|
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=)
|
rs73638274
|
0.02319
|
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
|
NM_000182.5(HADHA):c.1392+10G>A
|
rs60085478
|
0.02277
|
|
NM_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
|
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=)
|
rs10512435
|
0.02270
|
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
|
NM_024312.5(GNPTAB):c.3693+10A>T
|
rs76021817
|
0.02246
|
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
|
NM_017636.4(TRPM4):c.267+14C>G
|
rs113040724
|
0.02235
|
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
|
NM_006514.4(SCN10A):c.5217C>T (p.Asp1739=)
|
rs116353929
|
0.02232
|
|
NM_000337.6(SGCD):c.700-19T>C
|
rs80086857
|
0.02231
|
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
|
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)
|
rs61747727
|
0.02224
|
|
NM_133378.4(TTN):c.93062-10T>C
|
rs202214630
|
0.02222
|
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
|
NM_013266.4(CTNNA3):c.393G>A (p.Ala131=)
|
rs80182543
|
0.02215
|
|
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg)
|
rs55702300
|
0.02213
|
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
|
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly)
|
rs59567206
|
0.02208
|
|
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)
|
rs1140064
|
0.02197
|
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02188
|
|
NM_006261.5(PROP1):c.174G>A (p.Pro58=)
|
rs2233784
|
0.02188
|
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
|
NM_000335.5(SCN5A):c.2263-18T>C
|
rs9835588
|
0.02184
|
|
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile)
|
rs61622928
|
0.02183
|
|
NM_004628.5(XPC):c.142C>T (p.Leu48Phe)
|
rs2229089
|
0.02177
|
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02158
|
|
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)
|
rs4151030
|
0.02153
|
|
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)
|
rs138818878
|
0.02149
|
|
NM_001378454.1(ALMS1):c.9907+20C>T
|
rs74730457
|
0.02147
|
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
|
NM_006506.5(RASA2):c.528-19C>T
|
rs75293937
|
0.02143
|
|
NM_001384140.1(PCDH15):c.3718-19C>A
|
rs75248212
|
0.02141
|
|
NM_000016.6(ACADM):c.489T>G (p.Pro163=)
|
rs78392995
|
0.02136
|
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.02135
|
|
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn)
|
rs28943589
|
0.02134
|
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
|
NM_006939.4(SOS2):c.816T>C (p.Ser272=)
|
rs35396088
|
0.02130
|
|
NM_000302.4(PLOD1):c.1788G>T (p.Val596=)
|
rs35460537
|
0.02126
|
|
NM_022114.4(PRDM16):c.627C>T (p.His209=)
|
rs12058363
|
0.02126
|
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
|
NM_000098.3(CPT2):c.511C>T (p.Leu171=)
|
rs2229292
|
0.02118
|
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
|
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val)
|
rs7348121
|
0.02113
|
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
|
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)
|
rs879691
|
0.02109
|
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
|
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=)
|
rs35760114
|
0.02099
|
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
|
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)
|
rs2303831
|
0.02082
|
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
|
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
|
rs2230179
|
0.02069
|
|
NM_002691.4(POLD1):c.2154+13_2154+14insA
|
rs3218767
|
0.02057
|
|
NM_006258.4(PRKG1):c.888T>C (p.Leu296=)
|
rs113994747
|
0.02057
|
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
|
NM_001711.6(BGN):c.120A>G (p.Glu40=)
|
rs34441665
|
0.02054
|
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
|
NM_006231.4(POLE):c.2340G>A (p.Ser780=)
|
rs5744822
|
0.02051
|
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
|
NM_005188.4(CBL):c.869+4A>G
|
rs77284821
|
0.02038
|
|
NM_054012.4(ASS1):c.688+4T>C
|
rs78432485
|
0.02036
|
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
|
NM_017636.4(TRPM4):c.449-10G>A
|
rs78444754
|
0.02013
|
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
|
NM_001099857.5(IKBKG):c.1056-18C>T
|
rs386134237
|
0.02010
|
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
|
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=)
|
rs79640036
|
0.01999
|
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01997
|
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
|
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)
|
rs75519005
|
0.01995
|
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01994
|
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
|
NM_033118.4(MYLK2):c.1082+11G>A
|
rs76530988
|
0.01993
|
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
|
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
|
NM_017617.5(NOTCH1):c.2587+20G>A
|
rs148381982
|
0.01991
|
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
|
NM_000512.5(GALNS):c.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
|
NM_001927.4(DES):c.-30_-18dup
|
rs794728983
|
0.01968
|
|
NM_006514.4(SCN10A):c.4710G>A (p.Thr1570=)
|
rs78425180
|
0.01966
|
|
NM_006915.3(RP2):c.844C>T (p.Arg282Trp)
|
rs1805147
|
0.01957
|
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
|
NM_001042492.3(NF1):c.7971-19G>T
|
rs17887156
|
0.01950
|
|
NM_004646.4(NPHS1):c.59-5C>G
|
rs114595892
|
0.01945
|
|
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)
|
rs117781224
|
0.01941
|
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
|
NM_001105206.3(LAMA4):c.423-4T>G
|
rs79008328
|
0.01927
|
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
|
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr)
|
rs61749223
|
0.01916
|
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
|
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)
|
rs16926499
|
0.01905
|
|
NM_000182.5(HADHA):c.109+20A>G
|
rs7569108
|
0.01898
|
|
NM_001032283.3(TMPO):c.565+1296T>G
|
rs35645287
|
0.01895
|
|
NM_000335.5(SCN5A):c.482+16G>C
|
rs41312949
|
0.01894
|
|
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile)
|
rs61753424
|
0.01891
|
|
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)
|
rs115435816
|
0.01890
|
|
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=)
|
rs35042032
|
0.01889
|
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
|
NM_004628.5(XPC):c.46C>G (p.Leu16Val)
|
rs1870134
|
0.01876
|
|
NM_004304.5(ALK):c.4596C>T (p.Asn1532=)
|
rs1881422
|
0.01874
|
|
NM_003640.5(ELP1):c.189C>T (p.Leu63=)
|
rs2230786
|
0.01873
|
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
|
NM_001378969.1(KCND3):c.669G>C (p.Ser223=)
|
rs17215423
|
0.01872
|
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
|
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)
|
rs62347360
|
0.01871
|
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
|
NM_004304.5(ALK):c.4203T>C (p.Tyr1401=)
|
rs55772745
|
0.01865
|
|
NM_001378969.1(KCND3):c.375G>A (p.Pro125=)
|
rs2289723
|
0.01862
|
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
|
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)
|
rs61751557
|
0.01860
|
|
NM_005901.6(SMAD2):c.828G>A (p.Ser276=)
|
rs1051066
|
0.01853
|
|
NM_006231.4(POLE):c.2320-13A>G
|
rs75329753
|
0.01853
|
|
NM_014391.3(ANKRD1):c.346-15T>A
|
rs11595794
|
0.01849
|
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
|
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile)
|
rs45618633
|
0.01846
|
|
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg)
|
rs62620248
|
0.01839
|
|
NM_017636.4(TRPM4):c.783G>A (p.Lys261=)
|
rs111930830
|
0.01836
|
|
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg)
|
rs78778733
|
0.01836
|
|
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys)
|
rs35633849
|
0.01835
|
|
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly)
|
rs79849424
|
0.01835
|
|
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)
|
rs35445653
|
0.01835
|
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
|
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)
|
rs114331773
|
0.01832
|
|
NM_138694.4(PKHD1):c.8108-16G>C
|
rs73442356
|
0.01832
|
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
|
NM_000138.5(FBN1):c.2420-58del
|
rs149403312
|
0.01826
|
|
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr)
|
rs73062575
|
0.01804
|
|
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro)
|
rs34320609
|
0.01801
|
|
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=)
|
rs74339620
|
0.01800
|
|
NM_000249.4(MLH1):c.381-41A>G
|
rs4647245
|
0.01794
|
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
|
NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=)
|
rs61749320
|
0.01783
|
|
NM_000719.7(CACNA1C):c.5680+15C>T
|
rs114036394
|
0.01782
|
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
|
NM_144670.6(A2ML1):c.1444_1445del (p.Ser482fs)
|
rs143864957
|
0.01780
|
|
NM_006502.3(POLH):c.1783A>G (p.Met595Val)
|
rs9333555
|
0.01768
|
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
|
NM_001184.4(ATR):c.1326A>G (p.Lys442=)
|
rs28897765
|
0.01766
|
|
NM_181486.4(TBX5):c.1281C>T (p.Ser427=)
|
rs6489957
|
0.01766
|
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
|
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)
|
rs2229970
|
0.01759
|
|
NM_006258.4(PRKG1):c.408G>A (p.Pro136=)
|
rs55806342
|
0.01754
|
|
NM_017636.4(TRPM4):c.3641-19C>G
|
rs7256050
|
0.01753
|
|
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp)
|
rs34775428
|
0.01753
|
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
|
NM_001032283.3(TMPO):c.565+1132T>G
|
rs35998138
|
0.01742
|
|
NM_005502.4(ABCA1):c.813+17C>T
|
rs116728780
|
0.01740
|
|
NM_001184.4(ATR):c.1950G>A (p.Glu650=)
|
rs28910270
|
0.01739
|
|
NM_001032283.3(TMPO):c.565+1853G>C
|
rs35761089
|
0.01735
|
|
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala)
|
rs4915154
|
0.01733
|
|
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)
|
rs41270201
|
0.01730
|
|
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)
|
rs3027928
|
0.01726
|
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
|
NM_001384140.1(PCDH15):c.157+41381G>C
|
rs115394626
|
0.01718
|
|
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser)
|
rs35349917
|
0.01717
|
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
|
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys)
|
rs35037984
|
0.01713
|
|
NM_000093.5(COL5A1):c.4955-16C>T
|
rs112712705
|
0.01710
|
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
|
NM_002691.4(POLD1):c.1713C>T (p.Pro571=)
|
rs2230248
|
0.01698
|
|
NM_152750.5(CDHR3):c.1653+3G>A
|
rs117797654
|
0.01697
|
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01691
|
|
NM_000093.5(COL5A1):c.5067+20C>G
|
rs112600748
|
0.01689
|
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
|
NM_004100.5(EYA4):c.804+17T>C
|
rs57845656
|
0.01673
|
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
|
NM_001377540.1(SLMAP):c.1968T>A (p.Leu656=)
|
rs35219531
|
0.01667
|
|
NM_000497.4(CYP11B1):c.1122-20A>G
|
rs61752794
|
0.01661
|
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
|
NM_144997.7(FLCN):c.872-13A>G
|
rs114970273
|
0.01651
|
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
|
NM_001743.6(CALM2):c.421+18A>G
|
rs2016682
|
0.01645
|
|
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)
|
rs75366116
|
0.01644
|
|
NM_001184.4(ATR):c.2875G>A (p.Val959Met)
|
rs28910271
|
0.01643
|
|
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)
|
rs17853166
|
0.01640
|
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
|
NM_001105206.3(LAMA4):c.196-12T>C
|
rs78871662
|
0.01634
|
|
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=)
|
rs7833404
|
0.01634
|
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01633
|
|
NM_004006.3(DMD):c.5724T>C (p.Asp1908=)
|
rs143159113
|
0.01630
|
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
|
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)
|
rs11568438
|
0.01617
|
|
NM_006790.3(MYOT):c.780G>A (p.Ser260=)
|
rs116773838
|
0.01617
|
|
NM_003640.5(ELP1):c.2587+14C>T
|
rs141670242
|
0.01614
|
|
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
|
rs4986888
|
0.01612
|
|
NM_000360.4(TH):c.1035G>T (p.Ala345=)
|
rs11826260
|
0.01611
|
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
|
NM_000543.5(SMPD1):c.807C>T (p.Ala269=)
|
rs35933246
|
0.01598
|
|
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile)
|
rs35228363
|
0.01598
|
|
NM_032495.6(HOPX):c.87G>A (p.Glu29=)
|
rs11555052
|
0.01597
|
|
NM_001105206.3(LAMA4):c.423-10C>T
|
rs75058449
|
0.01596
|
|
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)
|
rs2230798
|
0.01592
|
|
NM_002230.4(JUP):c.867C>T (p.Thr289=)
|
rs2230407
|
0.01591
|
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
|
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met)
|
rs74811083
|
0.01589
|
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
|
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=)
|
rs75858380
|
0.01586
|
|
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala)
|
rs56063729
|
0.01586
|
|
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=)
|
rs34419050
|
0.01584
|
|
NM_000277.3(PAH):c.963C>T (p.Leu321=)
|
rs61747292
|
0.01582
|
|
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser)
|
rs74053349
|
0.01580
|
|
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=)
|
rs16873744
|
0.01580
|
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
|
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met)
|
rs2228525
|
0.01573
|
|
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)
|
rs1805153
|
0.01567
|
|
NM_002755.4(MAP2K1):c.438+20C>T
|
rs16949939
|
0.01567
|
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
|
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=)
|
rs34370932
|
0.01563
|
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
|
NM_053025.4(MYLK):c.1516+16C>T
|
rs77590783
|
0.01553
|
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
|
NM_005751.5(AKAP9):c.10608-15G>C
|
rs112467497
|
0.01552
|
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
|
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)
|
rs17215465
|
0.01545
|
|
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser)
|
rs12110554
|
0.01544
|
|
NM_001042492.3(NF1):c.2851-16T>C
|
rs17880825
|
0.01543
|
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
|
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)
|
rs61729627
|
0.01533
|
|
NM_000022.4(ADA):c.36= (p.Val12=)
|
rs394105
|
0.01530
|
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
|
NM_001042492.3(NF1):c.4929G>A (p.Val1643=)
|
rs17880521
|
0.01527
|
|
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=)
|
rs61753726
|
0.01526
|
|
NM_001267550.2(TTN):c.52706-17A>G
|
rs72646807
|
0.01524
|
|
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
0.01520
|
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01517
|
|
NM_001458.5(FLNC):c.1374C>T (p.Pro458=)
|
rs115140972
|
0.01514
|
|
NM_013266.4(CTNNA3):c.348A>C (p.Pro116=)
|
rs61749224
|
0.01511
|
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
|
NM_004006.3(DMD):c.3705C>T (p.Ala1235=)
|
rs143628111
|
0.01510
|
|
NM_174936.4(PCSK9):c.1504-16C>T
|
rs28362269
|
0.01510
|
|
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg)
|
rs34956633
|
0.01509
|
|
NM_001184.4(ATR):c.293-20C>T
|
rs115097590
|
0.01504
|
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01503
|
|
NM_030787.4(CFHR5):c.507C>T (p.Asp169=)
|
rs34533956
|
0.01500
|
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
|
NM_004006.3(DMD):c.4344+17A>T
|
rs72468646
|
0.01496
|
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
|
NM_001267550.2(TTN):c.2781A>C (p.Thr927=)
|
rs55892860
|
0.01493
|
|
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=)
|
rs59135929
|
0.01493
|
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
|
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser)
|
rs72842957
|
0.01485
|
|
NM_020533.3(MCOLN1):c.777+99G>A
|
rs12462124
|
0.01482
|
|
NM_017617.5(NOTCH1):c.*6G>A
|
rs73668310
|
0.01480
|
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
|
NM_024301.5(FKRP):c.192C>T (p.Pro64=)
|
rs111754012
|
0.01474
|
|
NM_000093.5(COL5A1):c.5068-7T>C
|
rs113256540
|
0.01472
|
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
|
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=)
|
rs28379666
|
0.01465
|
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
|
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=)
|
rs61742228
|
0.01462
|
|
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=)
|
rs77341011
|
0.01461
|
|
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)
|
rs143663847
|
0.01456
|
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
|
NM_022114.4(PRDM16):c.2940-17G>A
|
rs41301967
|
0.01452
|
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
|
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=)
|
rs79596285
|
0.01448
|
|
NM_000305.3(PON2):c.-5G>A
|
rs17876183
|
0.01439
|
|
NM_001386795.1(DTNA):c.1903+8G>A
|
rs111817603
|
0.01438
|
|
NM_006231.4(POLE):c.2550C>T (p.Ile850=)
|
rs5744834
|
0.01438
|
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
|
NM_000448.3(RAG1):c.189A>G (p.Pro63=)
|
rs34357808
|
0.01436
|
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
|
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=)
|
rs143758478
|
0.01424
|
|
NM_024312.5(GNPTAB):c.204-15G>T
|
rs10860787
|
0.01423
|
|
NM_000318.3(PEX2):c.550= (p.Cys184=)
|
rs10087163
|
0.01422
|
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
|
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)
|
rs55757622
|
0.01419
|
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
|
NM_001042492.3(NF1):c.8113+20G>A
|
rs55747230
|
0.01406
|
|
NM_006231.4(POLE):c.5678+4C>T
|
rs5744973
|
0.01405
|
|
NM_022437.3(ABCG8):c.165+13C>T
|
rs75365565
|
0.01403
|
|
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)
|
rs9904366
|
0.01403
|
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
|
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=)
|
rs113869350
|
0.01399
|
|
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)
|
rs4151033
|
0.01395
|
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
|
NM_000237.3(LPL):c.1018+16T>C
|
rs59184895
|
0.01380
|
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
|
NM_001042492.3(NF1):c.168C>T (p.Ser56=)
|
rs17881168
|
0.01374
|
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
|
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys)
|
rs3732485
|
0.01370
|
|
NM_144670.6(A2ML1):c.3380C>T (p.Ser1127Leu)
|
rs61749078
|
0.01369
|
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
|
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=)
|
rs9914661
|
0.01367
|
|
NM_003036.4(SKI):c.99C>G (p.Gly33=)
|
rs200019352
|
0.01364
|
|
NM_000257.4(MYH7):c.1408-42del
|
rs45490796
|
0.01363
|
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
|
NM_032578.4(MYPN):c.2925+9G>C
|
rs12241644
|
0.01362
|
|
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met)
|
rs9913621
|
0.01361
|
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
|
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=)
|
rs74667788
|
0.01349
|
|
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)
|
rs115244417
|
0.01348
|
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
|
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met)
|
rs74717885
|
0.01345
|
|
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)
|
rs11648119
|
0.01341
|
|
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)
|
rs28763968
|
0.01341
|
|
NM_144670.6(A2ML1):c.3392C>T (p.Thr1131Met)
|
rs7959680
|
0.01340
|
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
|
NM_004304.5(ALK):c.-5G>A
|
rs56270786
|
0.01336
|
|
NM_017617.5(NOTCH1):c.2468-19G>A
|
rs116515776
|
0.01328
|
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
|
NM_144670.6(A2ML1):c.3272T>C (p.Val1091Ala)
|
rs61736726
|
0.01323
|
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
|
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly)
|
rs116779216
|
0.01318
|
|
NM_001114122.3(CHEK1):c.1260A>G (p.Arg420=)
|
rs141332865
|
0.01316
|
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
|
NM_000110.4(DPYD):c.1236G>A (p.Glu412=)
|
rs56038477
|
0.01297
|
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
|
NM_017617.5(NOTCH1):c.1100-16G>C
|
rs146815871
|
0.01292
|
|
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=)
|
rs116098879
|
0.01291
|
|
NM_032588.4(TRIM63):c.502-8C>T
|
rs6656100
|
0.01290
|
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
|
NM_000209.4(PDX1):c.162G>A (p.Leu54=)
|
rs28509441
|
0.01287
|
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
|
NM_000433.4(NCF2):c.890T>C (p.Val297Ala)
|
rs35937854
|
0.01284
|
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
|
NM_005472.4(KCNE3):c.*17C>T
|
rs11822977
|
0.01276
|
|
NM_020778.5(ALPK3):c.2811C>G (p.Ala937=)
|
rs35621845
|
0.01276
|
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
|
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)
|
rs34396614
|
0.01268
|
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01259
|
|
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
|
NM_001110556.2(FLNA):c.4598+8G>C
|
rs112379782
|
0.01252
|
|
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)
|
rs36044314
|
0.01250
|
|
NM_000238.4(KCNH2):c.*15G>A
|
rs41313746
|
0.01245
|
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
|
NM_001250.5(CD40):c.-69delT
|
rs11569300
|
0.01244
|
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
|
NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
|
NM_000303.3(PMM2):c.324G>A (p.Ala108=)
|
rs62031146
|
0.01239
|
|
NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln)
|
rs60031334
|
0.01237
|
|
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp)
|
rs36038685
|
0.01237
|
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
|
NM_001458.5(FLNC):c.6004+19G>A
|
rs12530507
|
0.01231
|
|
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)
|
rs115977487
|
0.01228
|
|
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=)
|
rs35404804
|
0.01226
|
|
NM_001164508.2(NEB):c.3775-6T>C
|
rs80232472
|
0.01222
|
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
|
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn)
|
rs35766971
|
0.01214
|
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01213
|
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
|
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=)
|
rs116747979
|
0.01203
|
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
|
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=)
|
rs35808744
|
0.01201
|
|
NM_000393.5(COL5A2):c.403-16T>A
|
rs117085226
|
0.01199
|
|
NM_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
|
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)
|
rs2229973
|
0.01198
|
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
|
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp)
|
rs41268685
|
0.01191
|
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
|
NM_003036.4(SKI):c.294C>T (p.Thr98=)
|
rs115746142
|
0.01188
|
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
|
NM_145046.5(CALR3):c.861G>A (p.Thr287=)
|
rs118131979
|
0.01186
|
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
|
NM_020297.4(ABCC9):c.789C>T (p.Cys263=)
|
rs58386780
|
0.01183
|
|
NM_033118.4(MYLK2):c.918C>T (p.Ala306=)
|
rs41293106
|
0.01179
|
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410
|
0.01173
|
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
|
NM_002474.3(MYH11):c.3651+7_3651+11del
|
rs369806813
|
0.01163
|
|
NM_004484.4(GPC3):c.204G>A (p.Lys68=)
|
rs61754632
|
0.01163
|
|
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)
|
rs61751548
|
0.01162
|
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
|
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
|
rs45451294
|
0.01158
|
|
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=)
|
rs34753919
|
0.01154
|
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
|
NM_005502.4(ABCA1):c.6450G>A (p.Pro2150=)
|
rs61741359
|
0.01152
|
|
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=)
|
rs115033934
|
0.01152
|
|
NM_144670.6(A2ML1):c.1686T>G (p.Val562=)
|
rs12296765
|
0.01152
|
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
|
NM_005751.5(AKAP9):c.747A>G (p.Glu249=)
|
rs78515732
|
0.01148
|
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
|
NM_001105206.3(LAMA4):c.4287+15C>T
|
rs116361180
|
0.01137
|
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
|
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter)
|
rs45621032
|
0.01134
|
|
NM_002474.3(MYH11):c.2412-9C>A
|
rs148682361
|
0.01132
|
|
NM_000016.6(ACADM):c.900C>T (p.Thr300=)
|
rs17097429
|
0.01131
|
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
|
NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu)
|
rs34282181
|
0.01131
|
|
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)
|
rs146073993
|
0.01131
|
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
|
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=)
|
rs79286201
|
0.01125
|
|
NM_001035.3(RYR2):c.10230+20T>C
|
rs74323916
|
0.01122
|
|
NM_000090.4(COL3A1):c.3525+19del
|
rs138061246
|
0.01120
|
|
NM_001164508.2(NEB):c.3147+5G>A
|
rs74859201
|
0.01118
|
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
|
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)
|
rs12720442
|
0.01115
|
|
NM_004333.6(BRAF):c.-19C>T
|
rs71645935
|
0.01115
|
|
NM_000478.6(ALPL):c.1542G>T (p.Ala514=)
|
rs3200256
|
0.01113
|
|
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=)
|
rs35561837
|
0.01113
|
|
NM_002691.4(POLD1):c.2862G>C (p.Thr954=)
|
rs3219440
|
0.01109
|
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
|
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)
|
rs2296610
|
0.01104
|
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
|
NM_001164688.2(RD3):c.584A>T (p.Asp195Val)
|
rs143207434
|
0.01101
|
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
|
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)
|
rs74909468
|
0.01097
|
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
|
NM_001035.3(RYR2):c.6440+20C>T
|
rs115755128
|
0.01092
|
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
|
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=)
|
rs34813638
|
0.01090
|
|
NM_000074.3(CD40LG):c.684A>G (p.Val228=)
|
rs11575983
|
0.01089
|
|
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=)
|
rs138240178
|
0.01089
|
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01088
|
|
NM_000321.3(RB1):c.380+12T>C
|
rs3092881
|
0.01087
|
|
NM_002691.4(POLD1):c.849G>T (p.Gln283His)
|
rs113282414
|
0.01085
|
|
NM_001110556.2(FLNA):c.869-7C>T
|
rs143311779
|
0.01084
|
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
|
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val)
|
rs76895755
|
0.01078
|
|
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)
|
rs77555300
|
0.01077
|
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
|
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)
|
rs17881980
|
0.01075
|
|
NM_001164508.2(NEB):c.5763+4C>T
|
rs78916288
|
0.01075
|
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
|
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=)
|
rs2499482
|
0.01071
|
|
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)
|
rs4151031
|
0.01070
|
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
|
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)
|
rs2499481
|
0.01066
|
|
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)
|
rs75831552
|
0.01062
|
|
NM_020778.5(ALPK3):c.401G>A (p.Arg134His)
|
rs34407151
|
0.01062
|
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
|
NM_004982.4(KCNJ8):c.855G>A (p.Leu285=)
|
rs34093632
|
0.01061
|
|
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys)
|
rs41274090
|
0.01060
|
|
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu)
|
rs111965755
|
0.01059
|
|
NM_005633.4(SOS1):c.1203-20T>C
|
rs112906251
|
0.01058
|
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
|
NM_002471.4(MYH6):c.2946G>A (p.Glu982=)
|
rs145274612
|
0.01048
|
|
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)
|
rs17850455
|
0.01048
|
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
|
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)
|
rs41289902
|
0.01045
|
|
NM_144670.6(A2ML1):c.4325-18A>T
|
rs113456917
|
0.01045
|
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
|
NM_003172.4(SURF1):c.543C>T (p.Phe181=)
|
rs62637580
|
0.01036
|
|
NM_000215.4(JAK3):c.2259C>T (p.Ala753=)
|
rs35458530
|
0.01034
|
|
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)
|
rs77565483
|
0.01032
|
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
|
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)
|
rs35156360
|
0.01032
|
|
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)
|
rs35530544
|
0.01031
|
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
|
NM_001458.5(FLNC):c.2266-14G>C
|
rs75612085
|
0.01030
|
|
NM_005477.3(HCN4):c.1683C>A (p.Gly561=)
|
rs62641690
|
0.01030
|
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01028
|
|
NM_000218.3(KCNQ1):c.1394-14C>T
|
rs28730758
|
0.01027
|
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
|
NM_004646.4(NPHS1):c.1930+10C>T
|
rs76131336
|
0.01025
|
|
NM_012186.3(FOXE3):c.423G>A (p.Lys141=)
|
rs145081583
|
0.01025
|
|
NM_002474.3(MYH11):c.387A>G (p.Lys129=)
|
rs78754138
|
0.01024
|
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
|
NM_001042492.3(NF1):c.1845+13A>T
|
rs17885739
|
0.01016
|
|
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg)
|
rs148594123
|
0.01015
|
|
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=)
|
rs45517384
|
0.01015
|
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
|
NM_000019.4(ACAT1):c.731-28G>A
|
rs112489357
|
0.01003
|
|
NM_001308093.3(GATA4):c.1026T>C (p.Pro342=)
|
rs56206007
|
0.01003
|
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
|
NM_004006.3(DMD):c.8668+19A>G
|
rs148241865
|
0.01001
|
|
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)
|
rs3812596
|
0.01000
|
|
NM_014476.6(PDLIM3):c.831G>A (p.Pro277=)
|
rs61734674
|
0.00997
|
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
|
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)
|
rs148331061
|
0.00992
|
|
NM_001354604.2(MITF):c.1566G>A (p.Thr522=)
|
rs36118030
|
0.00991
|
|
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val)
|
rs61741216
|
0.00991
|
|
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=)
|
rs78369334
|
0.00989
|
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
|
NM_001458.5(FLNC):c.4302C>T (p.Arg1434=)
|
rs114697352
|
0.00988
|
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
|
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
|
rs142735148
|
0.00983
|
|
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)
|
rs16990169
|
0.00981
|
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
|
NM_001164508.2(NEB):c.8995-14T>C
|
rs79875240
|
0.00977
|
|
NM_002691.4(POLD1):c.1761C>T (p.Ile587=)
|
rs3218755
|
0.00976
|
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
|
NM_016203.4(PRKAG2):c.*3G>A
|
rs113234987
|
0.00973
|
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
|
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr)
|
rs5934
|
0.00972
|
|
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=)
|
rs145252235
|
0.00972
|
|
NM_006767.4(LZTR1):c.2219+13C>T
|
rs144005025
|
0.00972
|
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
|
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=)
|
rs11896779
|
0.00966
|
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
|
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=)
|
rs11062316
|
0.00963
|
|
NM_006939.4(SOS2):c.2162-4C>A
|
rs57179949
|
0.00961
|
|
NM_005591.4(MRE11):c.1032T>G (p.Leu344=)
|
rs11020793
|
0.00960
|
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00960
|
|
NM_000091.5(COL4A3):c.1505-11T>C
|
rs115757151
|
0.00959
|
|
NM_000020.3(ACVRL1):c.1246+9C>T
|
rs115378744
|
0.00958
|
|
NM_000057.4(BLM):c.419A>G (p.Glu140Gly)
|
rs35886055
|
0.00958
|
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
|
NM_006231.4(POLE):c.2928C>T (p.Arg976=)
|
rs5744845
|
0.00958
|
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
|
NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser)
|
rs139271412
|
0.00952
|
|
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)
|
rs17851524
|
0.00952
|
|
NM_022114.4(PRDM16):c.783C>T (p.Tyr261=)
|
rs61756439
|
0.00952
|
|
NM_006231.4(POLE):c.5583A>C (p.Ser1861=)
|
rs5744972
|
0.00949
|
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
|
NM_003098.3(SNTA1):c.555C>T (p.Val185=)
|
rs34995247
|
0.00948
|
|
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)
|
rs12941376
|
0.00945
|
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
|
NM_000137.4(FAH):c.483C>T (p.Gly161=)
|
rs116272698
|
0.00943
|
|
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)
|
rs1521808
|
0.00943
|
|
NM_000215.4(JAK3):c.2625C>T (p.Leu875=)
|
rs2230589
|
0.00942
|
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
|
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)
|
rs34152221
|
0.00938
|
|
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=)
|
rs2483221
|
0.00935
|
|
NM_003036.4(SKI):c.1211+11G>A
|
rs115186522
|
0.00934
|
|
NM_000255.4(MMUT):c.711A>G (p.Pro237=)
|
rs138085432
|
0.00930
|
|
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala)
|
rs73346297
|
0.00930
|
|
NM_005901.6(SMAD2):c.730+11T>A
|
rs191998339
|
0.00929
|
|
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)
|
rs112435835
|
0.00928
|
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
|
NM_000093.5(COL5A1):c.4699-6C>T
|
rs113090154
|
0.00923
|
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)
|
rs34327395
|
0.00921
|
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
|
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)
|
rs62646879
|
0.00919
|
|
NM_032578.4(MYPN):c.1245+20A>G
|
rs111634581
|
0.00919
|
|
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile)
|
rs2230235
|
0.00917
|
|
NM_139276.3(STAT3):c.1654-11C>G
|
rs17882035
|
0.00917
|
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
|
NM_000090.4(COL3A1):c.80-16C>T
|
rs28763875
|
0.00914
|
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
|
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=)
|
rs149101873
|
0.00911
|
|
NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile)
|
rs61734941
|
0.00911
|
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
|
NM_002834.5(PTPN11):c.854-30T>C
|
rs144391508
|
0.00909
|
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
|
NM_000719.7(CACNA1C):c.771C>T (p.Val257=)
|
rs112315742
|
0.00908
|
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
|
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg)
|
rs35372714
|
0.00904
|
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
|
NM_001386795.1(DTNA):c.933C>T (p.Ser311=)
|
rs114170541
|
0.00902
|
|
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)
|
rs192289289
|
0.00900
|
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
|
NM_022114.4(PRDM16):c.3109+10G>A
|
rs7549401
|
0.00898
|
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
|
NM_030662.4(MAP2K2):c.303+18G>A
|
rs116988721
|
0.00894
|
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
|
NM_004304.5(ALK):c.645T>C (p.Leu215=)
|
rs115392387
|
0.00889
|
|
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)
|
rs8187797
|
0.00888
|
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
|
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala)
|
rs74120667
|
0.00888
|
|
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=)
|
rs62637628
|
0.00887
|
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
|
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)
|
rs34224785
|
0.00886
|
|
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=)
|
rs9282539
|
0.00886
|
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
|
NM_201596.3(CACNB2):c.1785C>T (p.His595=)
|
rs61733967
|
0.00879
|
|
NM_000207.3(INS):c.-9C>T
|
rs5505
|
0.00878
|
|
NM_000393.5(COL5A2):c.2661+20G>A
|
rs79623676
|
0.00876
|
|
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)
|
rs79040751
|
0.00875
|
|
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=)
|
rs147569843
|
0.00870
|
|
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=)
|
rs145052299
|
0.00870
|
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00870
|
|
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile)
|
rs61735473
|
0.00870
|
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.00869
|
|
NM_030777.4(SLC2A10):c.1288+10G>A
|
rs76315093
|
0.00869
|
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
|
NM_022437.3(ABCG8):c.51C>A (p.Pro17=)
|
rs72647316
|
0.00868
|
|
NM_144670.6(A2ML1):c.2295G>A (p.Ala765=)
|
rs79067860
|
0.00866
|
|
NM_014476.6(PDLIM3):c.*12C>T
|
rs8315
|
0.00865
|
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
|
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)
|
rs113825926
|
0.00863
|
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
|
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile)
|
rs34810399
|
0.00860
|
|
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp)
|
rs75133151
|
0.00860
|
|
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg)
|
rs114132013
|
0.00860
|
|
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)
|
rs56054534
|
0.00860
|
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
|
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)
|
rs41311123
|
0.00859
|
|
NM_004100.5(EYA4):c.1845C>T (p.Asn615=)
|
rs142721902
|
0.00854
|
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
|
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)
|
rs11574889
|
0.00854
|
|
NM_000416.3(IFNGR1):c.200+18A>G
|
rs41505745
|
0.00852
|
|
NM_201596.3(CACNB2):c.993G>A (p.Ser331=)
|
rs76956014
|
0.00852
|
|
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln)
|
rs2230768
|
0.00849
|
|
NM_017668.3(NDE1):c.*384C>T
|
rs193005461
|
0.00847
|
|
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=)
|
rs145744152
|
0.00846
|
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
|
NM_001458.5(FLNC):c.2390-14C>T
|
rs71581921
|
0.00843
|
|
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)
|
rs71535732
|
0.00843
|
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00842
|
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
|
NM_004333.6(BRAF):c.1315-18T>G
|
rs6959000
|
0.00840
|
|
NM_000383.4(AIRE):c.1279-18C>T
|
rs72650678
|
0.00839
|
|
NM_001384140.1(PCDH15):c.475-3C>T
|
rs41304641
|
0.00837
|
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
|
NM_006939.4(SOS2):c.591A>G (p.Leu197=)
|
rs113460230
|
0.00834
|
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
|
NM_001267550.2(TTN):c.33340+10T>C
|
rs72650039
|
0.00830
|
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
|
NM_144670.6(A2ML1):c.3108-3dup
|
rs142794811
|
0.00828
|
|
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)
|
rs2066830
|
0.00827
|
|
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)
|
rs17882335
|
0.00827
|
|
NM_000391.4(TPP1):c.1076-18A>G
|
rs78676565
|
0.00826
|
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
|
NM_001267550.2(TTN):c.79689C>A (p.Val26563=)
|
rs10185798
|
0.00826
|
|
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser)
|
rs8178216
|
0.00825
|
|
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)
|
rs1800742
|
0.00823
|
|
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)
|
rs36210417
|
0.00822
|
|
NM_001386795.1(DTNA):c.2162+14G>A
|
rs76713874
|
0.00820
|
|
NM_002230.4(JUP):c.2047-14C>G
|
rs116666639
|
0.00819
|
|
NM_002880.4(RAF1):c.1669-13T>C
|
rs147475396
|
0.00819
|
|
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=)
|
rs76266696
|
0.00818
|
|
NM_000733.4(CD3E):c.507C>T (p.Gly169=)
|
rs2231447
|
0.00816
|
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
|
NM_001148.6(ANK2):c.3379+12T>G
|
rs139528815
|
0.00812
|
|
NM_000136.3(FANCC):c.1330-3C>T
|
rs4647542
|
0.00811
|
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
|
NM_004006.3(DMD):c.1332-18C>T
|
rs193153078
|
0.00806
|
|
NM_004628.5(XPC):c.1001C>A (p.Pro334His)
|
rs74737358
|
0.00806
|
|
NM_004628.5(XPC):c.2028C>T (p.Tyr676=)
|
rs2228004
|
0.00805
|
|
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)
|
rs5744760
|
0.00805
|
|
NM_004646.4(NPHS1):c.1758-11C>G
|
rs145554982
|
0.00802
|
|
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=)
|
rs8095704
|
0.00801
|
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
|
NM_000719.7(CACNA1C):c.371+17G>A
|
rs78645318
|
0.00797
|
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_001164508.2(NEB):c.24208-7C>T
|
rs113048349
|
0.00793
|
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
|
NM_003640.5(ELP1):c.1758T>G (p.Pro586=)
|
rs35054425
|
0.00792
|
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
|
NM_003640.5(ELP1):c.2631C>T (p.Ala877=)
|
rs138023874
|
0.00791
|
|
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)
|
rs34564141
|
0.00790
|
|
NM_001110556.2(FLNA):c.1829-13T>C
|
rs192905521
|
0.00789
|
|
NM_000040.3(APOC3):c.180-16C>T
|
rs5129
|
0.00787
|
|
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)
|
rs71578975
|
0.00786
|
|
NM_014476.6(PDLIM3):c.849C>T (p.Gly283=)
|
rs61734675
|
0.00785
|
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
|
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)
|
rs61729558
|
0.00781
|
|
NM_000277.3(PAH):c.1242C>T (p.Tyr414=)
|
rs1801152
|
0.00779
|
|
NM_001148.6(ANK2):c.9996T>C (p.Ser3332=)
|
rs145557320
|
0.00778
|
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00778
|
|
NM_017617.5(NOTCH1):c.2969+13C>T
|
rs7864720
|
0.00778
|
|
NM_000642.3(AGL):c.2802A>C (p.Ala934=)
|
rs34230588
|
0.00775
|
|
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)
|
rs35669569
|
0.00775
|
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
|
NM_005911.6(MAT2A):c.406-19G>A
|
rs114500620
|
0.00774
|
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
|
NM_000545.8(HNF1A):c.326+20C>A
|
rs80051981
|
0.00772
|
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
|
NM_138694.4(PKHD1):c.7110-7T>A
|
rs113034899
|
0.00770
|
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
|
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)
|
rs61688134
|
0.00769
|
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
|
NM_003764.4(STX11):c.146G>A (p.Arg49Gln)
|
rs17073498
|
0.00767
|
|
NM_000458.4(HNF1B):c.345-19C>T
|
rs59527848
|
0.00765
|
|
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn)
|
rs34093919
|
0.00763
|
|
NM_002471.4(MYH6):c.4959+13G>A
|
rs28730765
|
0.00762
|
|
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)
|
rs1800172
|
0.00760
|
|
NM_000302.4(PLOD1):c.302+15G>A
|
rs140227667
|
0.00760
|
|
NM_006912.6(RIT1):c.375C>T (p.Asp125=)
|
rs34831194
|
0.00759
|
|
NM_022725.4(FANCF):c.387C>T (p.Leu129=)
|
rs45556032
|
0.00759
|
|
NM_000215.4(JAK3):c.1442-5C>T
|
rs3212750
|
0.00758
|
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
|
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr)
|
rs75596506
|
0.00755
|
|
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=)
|
rs17850540
|
0.00755
|
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
|
NM_014391.3(ANKRD1):c.-17A>G
|
rs79341122
|
0.00753
|
|
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=)
|
rs35871586
|
0.00751
|
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
|
NM_001103.4(ACTN2):c.705G>C (p.Val235=)
|
rs2288599
|
0.00749
|
|
NM_005502.4(ABCA1):c.2961-10C>T
|
rs78329992
|
0.00749
|
|
NM_030777.4(SLC2A10):c.1548-18G>A
|
rs113496485
|
0.00749
|
|
NM_000393.5(COL5A2):c.370-16C>T
|
rs148220961
|
0.00748
|
|
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr)
|
rs75368761
|
0.00748
|
|
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=)
|
rs137914723
|
0.00748
|
|
NM_053025.4(MYLK):c.383C>T (p.Ala128Val)
|
rs143896146
|
0.00747
|
|
NM_000091.5(COL4A3):c.88-4C>T
|
rs148393022
|
0.00744
|
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
|
NM_006939.4(SOS2):c.3075+7C>T
|
rs144391749
|
0.00743
|
|
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)
|
rs59172778
|
0.00742
|
|
NM_005188.4(CBL):c.513T>C (p.Ser171=)
|
rs2227987
|
0.00741
|
|
NM_000061.3(BTK):c.531T>C (p.Pro177=)
|
rs148358153
|
0.00738
|
|
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)
|
rs36084488
|
0.00738
|
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
|
NM_012186.3(FOXE3):c.618C>G (p.Ala206=)
|
rs189628587
|
0.00737
|
|
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)
|
rs183329050
|
0.00737
|
|
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln)
|
rs78351282
|
0.00735
|
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
|
NM_032588.4(TRIM63):c.135G>C (p.Arg45=)
|
rs61760891
|
0.00733
|
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
|
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln)
|
rs56332208
|
0.00731
|
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
|
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=)
|
rs112661328
|
0.00729
|
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
|
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)
|
rs111638554
|
0.00728
|
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
|
NM_144670.6(A2ML1):c.3686= (p.His1229=)
|
rs10219561
|
0.00725
|
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
|
NM_006073.4(TRDN):c.1871-15G>A
|
rs59935057
|
0.00724
|
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
|
NM_005477.3(HCN4):c.1591-19C>A
|
rs41279186
|
0.00720
|
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
|
NM_001458.5(FLNC):c.6004+11G>A
|
rs117653869
|
0.00719
|
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
|
NM_006506.5(RASA2):c.2226-5C>T
|
rs112582979
|
0.00714
|
|
NM_000090.4(COL3A1):c.583-8C>T
|
rs10166835
|
0.00713
|
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
|
NM_139276.3(STAT3):c.711C>T (p.Asp237=)
|
rs17882069
|
0.00712
|
|
NM_001267550.2(TTN):c.50551+20C>T
|
rs67636125
|
0.00708
|
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
|
NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
|
NM_000393.5(COL5A2):c.2554-14A>G
|
rs142429770
|
0.00703
|
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
|
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)
|
rs146407262
|
0.00703
|
|
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=)
|
rs72648979
|
0.00702
|
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
|
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
|
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=)
|
rs72648977
|
0.00701
|
|
NM_001035.3(RYR2):c.13260+14A>G
|
rs141528541
|
0.00700
|
|
NM_006939.4(SOS2):c.3489+19C>T
|
rs149825446
|
0.00700
|
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
|
NM_000071.3(CBS):c.829-12C>T
|
rs75616587
|
0.00698
|
|
NM_001035.3(RYR2):c.7342+16A>G
|
rs76678214
|
0.00698
|
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
|
NM_000075.4(CDK4):c.696G>A (p.Leu232=)
|
rs2227953
|
0.00692
|
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
|
NM_006361.6(HOXB13):c.330C>A (p.Pro110=)
|
rs33993186
|
0.00691
|
|
NM_000075.4(CDK4):c.447A>G (p.Thr149=)
|
rs2069501
|
0.00690
|
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
|
NM_152564.5(VPS13B):c.2934+14A>T
|
rs187151724
|
0.00690
|
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
|
NM_022436.3(ABCG5):c.775-10G>T
|
rs114549158
|
0.00688
|
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
|
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)
|
rs11574872
|
0.00685
|
|
NM_022114.4(PRDM16):c.2091A>T (p.Ala697=)
|
rs35184988
|
0.00685
|
|
NM_006514.4(SCN10A):c.45C>T (p.Arg15=)
|
rs34314583
|
0.00684
|
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
|
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)
|
rs61737941
|
0.00682
|
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00682
|
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
|
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)
|
rs62001059
|
0.00679
|
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
|
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
|
NM_004304.5(ALK):c.2175C>T (p.Ile725=)
|
rs57881134
|
0.00677
|
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
|
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)
|
rs75939866
|
0.00675
|
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
|
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=)
|
rs115227860
|
0.00675
|
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
|
NM_001148.6(ANK2):c.2178+18C>T
|
rs45447896
|
0.00674
|
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
|
NM_001042492.3(NF1):c.3496+19T>C
|
rs9890283
|
0.00673
|
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
|
NM_000416.3(IFNGR1):c.489C>T (p.Pro163=)
|
rs41288981
|
0.00668
|
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
|
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)
|
rs76815324
|
0.00667
|
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
|
NM_005901.6(SMAD2):c.997+18T>G
|
rs139429167
|
0.00667
|
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
|
NM_004937.3(CTNS):c.108C>T (p.Asn36=)
|
rs117404824
|
0.00664
|
|
NM_017668.3(NDE1):c.948-3356G>A
|
rs142108062
|
0.00664
|
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
|
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr)
|
rs113984787
|
0.00662
|
|
NM_017636.4(TRPM4):c.306T>G (p.Val102=)
|
rs111783027
|
0.00662
|
|
NM_148897.3(SDR9C7):c.55C>G (p.Leu19Val)
|
rs74397593
|
0.00661
|
|
NM_022114.4(PRDM16):c.38-15C>T
|
rs9662053
|
0.00658
|
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
|
NM_001042492.3(NF1):c.6393C>T (p.His2131=)
|
rs17881788
|
0.00655
|
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
|
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)
|
rs34417028
|
0.00652
|
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
|
NM_006514.4(SCN10A):c.3087+15C>T
|
rs140924179
|
0.00650
|
|
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile)
|
rs34065672
|
0.00649
|
|
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp)
|
rs79732150
|
0.00649
|
|
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)
|
rs116373583
|
0.00649
|
|
NM_017617.5(NOTCH1):c.5019-13A>G
|
rs148002954
|
0.00648
|
|
NM_000090.4(COL3A1):c.1816-19T>C
|
rs114299724
|
0.00647
|
|
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
|
NM_004304.5(ALK):c.2133C>T (p.Ser711=)
|
rs77102810
|
0.00647
|
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
|
NM_017617.5(NOTCH1):c.5168-10G>A
|
rs199903655
|
0.00645
|
|
NM_001267550.2(TTN):c.53288-18G>T
|
rs72646810
|
0.00643
|
|
NM_000238.4(KCNH2):c.1558-5C>T
|
rs114186001
|
0.00642
|
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00640
|
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
|
NM_002317.7(LOX):c.476C>A (p.Pro159Gln)
|
rs41407546
|
0.00640
|
|
NM_144670.6(A2ML1):c.483+7G>A
|
rs73037000
|
0.00640
|
|
NM_001458.5(FLNC):c.352+10G>A
|
rs79489893
|
0.00639
|
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
|
NM_004982.4(KCNJ8):c.793T>C (p.Leu265=)
|
rs16924297
|
0.00638
|
|
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)
|
rs61751490
|
0.00638
|
|
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)
|
rs142835596
|
0.00637
|
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
|
NM_001613.4(ACTA2):c.455-17G>A
|
rs3816245
|
0.00636
|
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
|
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln)
|
rs146797353
|
0.00635
|
|
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)
|
rs61737708
|
0.00634
|
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
|
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)
|
rs3819970
|
0.00634
|
|
NM_000416.3(IFNGR1):c.42G>A (p.Val14=)
|
rs17181471
|
0.00633
|
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
|
NM_152564.5(VPS13B):c.2451T>C (p.His817=)
|
rs114120664
|
0.00630
|
|
NM_152594.3(SPRED1):c.583-7A>G
|
rs115970207
|
0.00630
|
|
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00630
|
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
|
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp)
|
rs114406277
|
0.00629
|
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
|
NM_000302.4(PLOD1):c.975+13C>T
|
rs79345327
|
0.00627
|
|
NM_005732.4(RAD50):c.3037-3T>C
|
rs115737081
|
0.00627
|
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
|
NM_004006.3(DMD):c.7476T>C (p.Val2492=)
|
rs142153424
|
0.00626
|
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
|
NM_001034853.2(RPGR):c.778+13T>A
|
rs199625400
|
0.00624
|
|
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=)
|
rs140084263
|
0.00624
|
|
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln)
|
rs147441359
|
0.00624
|
|
NM_022437.3(ABCG8):c.154C>G (p.Leu52Val)
|
rs142250628
|
0.00624
|
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
|
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)
|
rs115232898
|
0.00622
|
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
|
NM_012452.3(TNFRSF13B):c.61+10C>T
|
rs148297590
|
0.00621
|
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
|
NM_004100.5(EYA4):c.111T>C (p.Ser37=)
|
rs35863035
|
0.00620
|
|
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)
|
rs34551839
|
0.00619
|
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
|
NM_004304.5(ALK):c.1464C>T (p.Gly488=)
|
rs56165377
|
0.00615
|
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
|
NM_001148.6(ANK2):c.1881+8C>G
|
rs74976371
|
0.00612
|
|
NM_001148.6(ANK2):c.1995A>G (p.Pro665=)
|
rs45442693
|
0.00612
|
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
|
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu)
|
rs149214040
|
0.00612
|
|
NM_000361.3(THBD):c.1092G>A (p.Glu364=)
|
rs73901577
|
0.00611
|
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
|
NM_001148.6(ANK2):c.1245A>G (p.Glu415=)
|
rs34145832
|
0.00608
|
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
|
NM_031885.5(BBS2):c.*13C>T
|
rs141170836
|
0.00607
|
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
|
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)
|
rs61752920
|
0.00605
|
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00603
|
|
NM_001037.5(SCN1B):c.-9C>A
|
rs66671189
|
0.00603
|
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
|
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)
|
rs186758849
|
0.00601
|
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
|
NM_001458.5(FLNC):c.-12G>T
|
rs199842696
|
0.00599
|
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
|
NM_175914.5(HNF4A):c.393T>C (p.Asn131=)
|
rs113308087
|
0.00598
|
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
|
NM_004100.5(EYA4):c.103C>T (p.Leu35=)
|
rs35562371
|
0.00597
|
|
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)
|
rs147490060
|
0.00596
|
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
|
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)
|
rs148651456
|
0.00596
|
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
|
NM_004415.4(DSP):c.1702-18C>T
|
rs148417566
|
0.00594
|
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
|
NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)
|
rs34879708
|
0.00586
|
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
|
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=)
|
rs114139824
|
0.00585
|
|
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)
|
rs72648946
|
0.00585
|
|
NM_000182.5(HADHA):c.573+8dup
|
rs112196218
|
0.00584
|
|
NM_020297.4(ABCC9):c.2643+17G>C
|
rs151310554
|
0.00584
|
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
|
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg)
|
rs61757673
|
0.00583
|
|
NM_172351.3(CD46):c.417A>G (p.Leu139=)
|
rs12126088
|
0.00583
|
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
|
NM_000093.5(COL5A1):c.*14C>T
|
rs12553247
|
0.00580
|
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
|
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)
|
rs114008185
|
0.00577
|
|
NM_004304.5(ALK):c.1719C>T (p.Thr573=)
|
rs74830770
|
0.00577
|
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
|
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=)
|
rs141467675
|
0.00575
|
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
|
NM_001677.4(ATP1B1):c.600A>C (p.Pro200=)
|
rs61803314
|
0.00574
|
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
|
NM_002471.4(MYH6):c.2579G>A (p.Arg860His)
|
rs115845031
|
0.00573
|
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
|
NM_001369369.1(FOXN1):c.1215C>T (p.Ser405=)
|
rs116778145
|
0.00572
|
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
|
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu)
|
rs144692793
|
0.00569
|
|
NM_013975.4(LIG3):c.2367C>T (p.Phe789=)
|
rs114522796
|
0.00569
|
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
|
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)
|
rs138436961
|
0.00566
|
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
|
NM_002709.3(PPP1CB):c.52+15G>T
|
rs113766757
|
0.00563
|
|
NM_007373.4(SHOC2):c.1423-7C>T
|
rs180671383
|
0.00563
|
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
|
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)
|
rs34139502
|
0.00561
|
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
|
NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
|
rs139053702
|
0.00560
|
|
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=)
|
rs113391261
|
0.00559
|
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
|
NM_000432.4(MYL2):c.381G>A (p.Ala127=)
|
rs2233261
|
0.00558
|
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
|
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu)
|
rs9844788
|
0.00558
|
|
NM_004304.5(ALK):c.267C>A (p.Gly89=)
|
rs192127241
|
0.00557
|
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
|
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=)
|
rs9282546
|
0.00556
|
|
NM_201596.3(CACNB2):c.*16_*17insC
|
rs753335762
|
0.00556
|
|
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)
|
rs142404759
|
0.00555
|
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
|
NM_002230.4(JUP):c.1774-13C>T
|
rs116772523
|
0.00553
|
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
|
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile)
|
rs61746590
|
0.00552
|
|
NM_053025.4(MYLK):c.5368+13_5368+21del
|
rs146990616
|
0.00551
|
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
|
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=)
|
rs145833752
|
0.00550
|
|
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)
|
rs2734715
|
0.00549
|
|
NM_144670.6(A2ML1):c.633G>A (p.Val211=)
|
rs79151946
|
0.00549
|
|
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)
|
rs1805362
|
0.00548
|
|
NM_005188.4(CBL):c.1485G>A (p.Pro495=)
|
rs2229072
|
0.00547
|
|
FIBRINOGEN PARIS 1
|
rs2066862
|
0.00546
|
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
|
NM_032588.4(TRIM63):c.1041G>A (p.Gly347=)
|
rs61749354
|
0.00546
|
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
|
NM_003764.4(STX11):c.799G>A (p.Val267Met)
|
rs45574234
|
0.00545
|
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
|
NM_000093.5(COL5A1):c.4231-12G>A
|
rs188473199
|
0.00543
|
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
|
NM_005585.5(SMAD6):c.711C>T (p.His237=)
|
rs144415105
|
0.00542
|
|
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val)
|
rs9282573
|
0.00542
|
|
NM_004004.6(GJB2):c.-23+12G>A
|
rs397516866
|
0.00541
|
|
NM_000209.4(PDX1):c.-18C>T
|
rs193922351
|
0.00540
|
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
|
NM_001037.5(SCN1B):c.300C>T (p.Asp100=)
|
rs16969927
|
0.00539
|
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
|
NM_001148.6(ANK2):c.2278-11G>A
|
rs146312675
|
0.00538
|
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
|
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=)
|
rs12591946
|
0.00538
|
|
NM_006393.3(NEBL):c.1117-6T>G
|
rs71578938
|
0.00538
|
|
NM_006767.4(LZTR1):c.320+12C>T
|
rs73879461
|
0.00538
|
|
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys)
|
rs149842031
|
0.00537
|
|
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=)
|
rs370420046
|
0.00537
|
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
|
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)
|
rs35105793
|
0.00536
|
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
|
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
|
NM_001079.4(ZAP70):c.890-16C>T
|
rs191682943
|
0.00532
|
|
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)
|
rs79718972
|
0.00532
|
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
|
NM_002880.4(RAF1):c.208-17T>C
|
rs3730268
|
0.00529
|
|
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=)
|
rs35273905
|
0.00526
|
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
|
NM_001378454.1(ALMS1):c.12362+18A>T
|
rs535484933
|
0.00525
|
|
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)
|
rs6476
|
0.00523
|
|
NM_000137.4(FAH):c.315-14G>A
|
rs139830755
|
0.00521
|
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
|
NM_006767.4(LZTR1):c.201-8C>T
|
rs183476594
|
0.00520
|
|
NM_032578.4(MYPN):c.3493+11C>T
|
rs113674647
|
0.00520
|
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
|
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=)
|
rs141218982
|
0.00519
|
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
|
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)
|
rs28362285
|
0.00518
|
|
NM_000152.5(GAA):c.2646+55G>T
|
rs141765552
|
0.00517
|
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00515
|
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
|
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=)
|
rs114974138
|
0.00514
|
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
|
NM_014697.3(NOS1AP):c.864C>T (p.Ser288=)
|
rs77473623
|
0.00513
|
|
NM_000093.5(COL5A1):c.5137-11T>C
|
rs183495554
|
0.00512
|
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
|
NM_024529.5(CDC73):c.1185A>G (p.Gln395=)
|
rs116358657
|
0.00511
|
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00510
|
|
NM_000314.6(PTEN):c.-1059C>G
|
rs144620057
|
0.00509
|
|
NM_014697.3(NOS1AP):c.1217C>T (p.Ala406Val)
|
rs34398505
|
0.00508
|
|
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)
|
rs117566084
|
0.00508
|
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
|
NM_002230.4(JUP):c.777C>T (p.Gly259=)
|
rs34890640
|
0.00507
|
|
NM_020297.4(ABCC9):c.2644-19G>A
|
rs73254534
|
0.00507
|
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
|
NM_001103.4(ACTN2):c.870G>A (p.Ala290=)
|
rs116464082
|
0.00506
|
|
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr)
|
rs150777839
|
0.00506
|
|
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn)
|
rs188799901
|
0.00505
|
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
|
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)
|
rs61751486
|
0.00503
|
|
NM_000057.4(BLM):c.3960C>T (p.Pro1320=)
|
rs56009845
|
0.00502
|
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
|
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)
|
rs114918858
|
0.00501
|
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
|
NM_000302.4(PLOD1):c.76+17C>T
|
rs113691754
|
0.00498
|
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
|
NM_000157.4(GBA1):c.1092G>A (p.Gly364=)
|
rs143222798
|
0.00497
|
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
|
NM_000057.4(BLM):c.615G>A (p.Lys205=)
|
rs28903082
|
0.00496
|
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
|
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys)
|
rs35207495
|
0.00496
|
|
NM_006915.3(RP2):c.260C>T (p.Thr87Ile)
|
rs147783915
|
0.00496
|
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
|
NM_000053.4(ATP7B):c.*15C>T
|
rs73498144
|
0.00493
|
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
|
NM_001035.3(RYR2):c.1292+20C>T
|
rs182050281
|
0.00493
|
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
|
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=)
|
rs140001300
|
0.00493
|
|
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)
|
rs1800094
|
0.00491
|
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
|
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
|
NM_002471.4(MYH6):c.330G>A (p.Ala110=)
|
rs77679218
|
0.00490
|
|
NM_144670.6(A2ML1):c.3252C>T (p.His1084=)
|
rs61745125
|
0.00490
|
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
|
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=)
|
rs28362268
|
0.00488
|
|
NM_016169.4(SUFU):c.1291T>C (p.Leu431=)
|
rs141950577
|
0.00487
|
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
|
NM_000030.3(AGXT):c.166-14C>T
|
rs180177176
|
0.00486
|
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
|
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)
|
rs28362261
|
0.00485
|
|
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
rs11466047
|
0.00484
|
|
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)
|
rs61733294
|
0.00484
|
|
NM_001308093.3(GATA4):c.1150-20G>A
|
rs114345849
|
0.00483
|
|
NM_001384140.1(PCDH15):c.3983+12T>C
|
rs149867749
|
0.00483
|
|
NM_001378454.1(ALMS1):c.11872+18G>A
|
rs139647347
|
0.00482
|
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
|
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
|
NM_000088.4(COL1A1):c.612C>T (p.Pro204=)
|
rs138078016
|
0.00480
|
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
|
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
|
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)
|
rs143654474
|
0.00477
|
|
NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
|
NM_016599.5(MYOZ2):c.76+19C>T
|
rs77591499
|
0.00476
|
|
NM_004415.4(DSP):c.2630+18C>T
|
rs145963404
|
0.00475
|
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
|
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn)
|
rs10404156
|
0.00473
|
|
NM_000451.4(SHOX):c.63C>T (p.Gly21=)
|
rs142306835
|
0.00472
|
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
|
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)
|
rs2230017
|
0.00469
|
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
|
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)
|
rs16991652
|
0.00468
|
|
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)
|
rs143885319
|
0.00467
|
|
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)
|
rs58629309
|
0.00466
|
|
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)
|
rs142611294
|
0.00466
|
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
|
NM_014000.3(VCL):c.1557C>A (p.Ile519=)
|
rs150120464
|
0.00466
|
|
NM_000152.5(GAA):c.859-21G>A
|
rs185883087
|
0.00465
|
|
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)
|
rs74348333
|
0.00465
|
|
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)
|
rs151098394
|
0.00465
|
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
|
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)
|
rs147332381
|
0.00464
|
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00463
|
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00462
|
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
|
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=)
|
rs17073495
|
0.00461
|
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
|
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)
|
rs117571555
|
0.00459
|
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
|
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)
|
rs113493395
|
0.00455
|
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
|
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)
|
rs17122769
|
0.00454
|
|
NM_017636.4(TRPM4):c.755G>A (p.Arg252His)
|
rs146564314
|
0.00453
|
|
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)
|
rs2661487
|
0.00453
|
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
|
NM_000733.4(CD3E):c.*98_*101dup
|
rs193922618
|
0.00450
|
|
NM_007078.3(LDB3):c.1014A>G (p.Thr338=)
|
rs150209221
|
0.00450
|
|
NM_000305.3(PON2):c.456G>A (p.Leu152=)
|
rs116520226
|
0.00449
|
|
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=)
|
rs139872789
|
0.00449
|
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
|
NM_020297.4(ABCC9):c.285-16G>A
|
rs144825585
|
0.00448
|
|
NM_001360.3(DHCR7):c.1008C>T (p.His336=)
|
rs75225632
|
0.00447
|
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
|
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=)
|
rs114267234
|
0.00446
|
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
|
NM_000218.3(KCNQ1):c.1514+18C>T
|
rs12577654
|
0.00444
|
|
NM_000383.4(AIRE):c.1401-11C>T
|
rs371136111
|
0.00444
|
|
NM_002769.5(PRSS1):c.567T>C (p.Leu189=)
|
rs377124851
|
0.00444
|
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
|
NM_000093.5(COL5A1):c.2799+13C>A
|
rs75668257
|
0.00443
|
|
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)
|
rs144513453
|
0.00443
|
|
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)
|
rs78269740
|
0.00443
|
|
NM_002471.4(MYH6):c.2168+17C>A
|
rs192337153
|
0.00443
|
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00442
|
|
NM_012281.3(KCND2):c.1116-16T>A
|
rs192275893
|
0.00442
|
|
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=)
|
rs149639365
|
0.00441
|
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
|
NM_032588.4(TRIM63):c.*2G>A
|
rs77965623
|
0.00441
|
|
NM_053025.4(MYLK):c.652C>T (p.Leu218=)
|
rs113035707
|
0.00441
|
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
|
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg)
|
rs111256888
|
0.00440
|
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
|
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu)
|
rs17215402
|
0.00439
|
|
NM_005562.3(LAMC2):c.2422C>G (p.Pro808Ala)
|
rs144355456
|
0.00439
|
|
NM_006258.4(PRKG1):c.426C>T (p.Asp142=)
|
rs55754654
|
0.00439
|
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
|
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)
|
rs17175350
|
0.00438
|
|
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)
|
rs139129844
|
0.00438
|
|
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)
|
rs145756111
|
0.00437
|
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
|
NM_004006.3(DMD):c.1718C>T (p.Ala573Val)
|
rs5972599
|
0.00436
|
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
|
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=)
|
rs148293104
|
0.00434
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
|
NM_000237.3(LPL):c.430-6C>T
|
rs11570897
|
0.00432
|
|
NM_006506.5(RASA2):c.26C>T (p.Ala9Val)
|
rs200191034
|
0.00432
|
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
|
NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly)
|
rs114207635
|
0.00431
|
|
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)
|
rs74085888
|
0.00430
|
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
|
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
|
rs142993240
|
0.00430
|
|
NM_016169.4(SUFU):c.210T>C (p.Tyr70=)
|
rs35166585
|
0.00430
|
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
|
NM_001103.4(ACTN2):c.536+10C>T
|
rs141219516
|
0.00429
|
|
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu)
|
rs35706152
|
0.00428
|
|
NM_020297.4(ABCC9):c.142+15dup
|
rs571187142
|
0.00428
|
|
NM_000088.4(COL1A1):c.2452-23del
|
rs146899953
|
0.00427
|
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
|
NM_001999.4(FBN2):c.6512-17G>C
|
rs28763932
|
0.00427
|
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
|
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
|
rs61757478
|
0.00427
|
|
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)
|
rs7914192
|
0.00426
|
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
|
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp)
|
rs35734447
|
0.00426
|
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
|
NM_016169.4(SUFU):c.12G>A (p.Leu4=)
|
rs189234140
|
0.00425
|
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
|
NM_000249.4(MLH1):c.545+20A>T
|
rs121909453
|
0.00424
|
|
NM_000257.4(MYH7):c.3972+16G>A
|
rs114978322
|
0.00424
|
|
NM_002317.7(LOX):c.740+6G>A
|
rs41478244
|
0.00424
|
|
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr)
|
rs115216814
|
0.00424
|
|
NM_000719.7(CACNA1C):c.5091+18G>A
|
rs143343491
|
0.00423
|
|
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)
|
rs145463534
|
0.00423
|
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
|
NM_005732.4(RAD50):c.2910C>T (p.Asp970=)
|
rs148269640
|
0.00422
|
|
NM_017636.4(TRPM4):c.618G>A (p.Ser206=)
|
rs142788545
|
0.00422
|
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
|
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu)
|
rs72547554
|
0.00421
|
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
|
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=)
|
rs115814032
|
0.00420
|
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
|
NM_000391.4(TPP1):c.42C>A (p.Ile14=)
|
rs35903915
|
0.00419
|
|
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=)
|
rs116378128
|
0.00419
|
|
NM_003098.3(SNTA1):c.701+10G>A
|
rs6057846
|
0.00419
|
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
|
NM_144670.6(A2ML1):c.3550A>T (p.Ser1184Cys)
|
rs143603619
|
0.00419
|
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
|
NM_000249.4(MLH1):c.453+25A>G
|
rs4647246
|
0.00414
|
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
|
NM_014000.3(VCL):c.1177-15C>T
|
rs115083446
|
0.00414
|
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
|
NM_002471.4(MYH6):c.4651-12A>C
|
rs193922653
|
0.00413
|
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
|
NM_000182.5(HADHA):c.1690-6G>A
|
rs111662358
|
0.00412
|
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
|
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)
|
rs144720929
|
0.00412
|
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
|
NM_013266.4(CTNNA3):c.99+11C>T
|
rs115451937
|
0.00411
|
|
NM_020778.5(ALPK3):c.1710T>C (p.Asp570=)
|
rs56005718
|
0.00411
|
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
|
NM_001148.6(ANK2):c.4404+16T>C
|
rs2272233
|
0.00409
|
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
|
NM_005633.4(SOS1):c.345+15C>T
|
rs75937422
|
0.00407
|
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
|
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)
|
rs151155518
|
0.00406
|
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
|
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)
|
rs41366751
|
0.00406
|
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
|
NM_000117.3(EMD):c.465C>T (p.Tyr155=)
|
rs143447675
|
0.00404
|
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
|
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)
|
rs77323602
|
0.00404
|
|
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys)
|
rs114768494
|
0.00403
|
|
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp)
|
rs35249198
|
0.00403
|
|
NM_001386795.1(DTNA):c.1993+7T>C
|
rs138590000
|
0.00403
|
|
NM_001458.5(FLNC):c.1549+15C>A
|
rs181134489
|
0.00403
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg)
|
rs116323660
|
0.00402
|
|
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)
|
rs55761650
|
0.00401
|
|
NM_017617.5(NOTCH1):c.62-8C>T
|
rs202023246
|
0.00401
|
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
|
NM_053025.4(MYLK):c.422+14G>C
|
rs146112057
|
0.00400
|
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
|
NM_000432.4(MYL2):c.170-19T>C
|
rs115522476
|
0.00399
|
|
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)
|
rs116601686
|
0.00399
|
|
NM_005502.4(ABCA1):c.651A>G (p.Leu217=)
|
rs9282538
|
0.00399
|
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
|
NM_022132.5(MCCC2):c.282-7G>A
|
rs115078899
|
0.00399
|
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
0.00398
|
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
|
NM_144670.6(A2ML1):c.*1+12G>A
|
rs115808815
|
0.00398
|
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
|
NM_004655.4(AXIN2):c.2109G>A (p.Arg703=)
|
rs116525755
|
0.00396
|
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
|
NM_014697.3(NOS1AP):c.1434G>C (p.Ser478=)
|
rs115433966
|
0.00395
|
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
|
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)
|
rs7587103
|
0.00394
|
|
NM_004655.4(AXIN2):c.1410C>T (p.His470=)
|
rs149483825
|
0.00394
|
|
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn)
|
rs61760904
|
0.00394
|
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
|
NM_001134363.3(RBM20):c.1275+13A>G
|
rs373230569
|
0.00392
|
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
|
NM_002335.4(LRP5):c.4000+9C>T
|
rs148685646
|
0.00389
|
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
|
NM_004646.4(NPHS1):c.1758-8T>G
|
rs187501631
|
0.00387
|
|
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)
|
rs28730751
|
0.00387
|
|
NM_016938.5(EFEMP2):c.161-10C>T
|
rs2234461
|
0.00387
|
|
NM_025074.7(FRAS1):c.5665+18A>T
|
rs140398472
|
0.00387
|
|
NM_001371904.1(APOA5):c.975C>T (p.Ala325=)
|
rs137942813
|
0.00386
|
|
NM_001378969.1(KCND3):c.957C>G (p.Ser319=)
|
rs61733426
|
0.00386
|
|
NM_006767.4(LZTR1):c.2007C>T (p.Ile669=)
|
rs138664443
|
0.00386
|
|
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=)
|
rs139408145
|
0.00386
|
|
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=)
|
rs114957070
|
0.00386
|
|
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)
|
rs187400273
|
0.00386
|
|
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)
|
rs147312193
|
0.00385
|
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
|
NM_002474.3(MYH11):c.2520+17A>G
|
rs185697714
|
0.00383
|
|
NM_000057.4(BLM):c.1122T>C (p.His374=)
|
rs28385009
|
0.00382
|
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
|
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser)
|
rs115292211
|
0.00382
|
|
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=)
|
rs116046586
|
0.00382
|
|
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=)
|
rs139835626
|
0.00382
|
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
|
NM_014000.3(VCL):c.1542C>T (p.Val514=)
|
rs7904077
|
0.00380
|
|
NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met)
|
rs35292668
|
0.00380
|
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
|
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)
|
rs112306225
|
0.00377
|
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
|
NM_006270.5(RRAS):c.408C>T (p.Pro136=)
|
rs114187560
|
0.00377
|
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
|
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)
|
rs2234457
|
0.00375
|
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
|
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg)
|
rs112954500
|
0.00374
|
|
NM_033118.4(MYLK2):c.1711-20C>G
|
rs189282373
|
0.00374
|
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
|
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=)
|
rs145406397
|
0.00373
|
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
|
NM_022114.4(PRDM16):c.387+6C>T
|
rs369010644
|
0.00373
|
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
|
NM_003060.4(SLC22A5):c.1451-16G>A
|
rs140988771
|
0.00371
|
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
|
NM_020661.4(AICDA):c.585T>C (p.Thr195=)
|
rs78590060
|
0.00370
|
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
|
NM_001134363.3(RBM20):c.3452-10C>T
|
rs60618533
|
0.00369
|
|
NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys)
|
rs34823161
|
0.00369
|
|
NM_000039.3(APOA1):c.732C>G (p.Pro244=)
|
rs5080
|
0.00368
|
|
NM_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
|
NM_002234.4(KCNA5):c.570C>T (p.Asn190=)
|
rs12720444
|
0.00368
|
|
NM_002471.4(MYH6):c.4395G>A (p.Ser1465=)
|
rs74039310
|
0.00368
|
|
NM_005502.4(ABCA1):c.1530A>G (p.Leu510=)
|
rs34590907
|
0.00367
|
|
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)
|
rs57360419
|
0.00366
|
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
|
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val)
|
rs139775414
|
0.00365
|
|
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro)
|
rs137982616
|
0.00365
|
|
NM_175914.5(HNF4A):c.696C>T (p.His232=)
|
rs150078978
|
0.00365
|
|
NM_001267550.2(TTN):c.66160+16G>A
|
rs149714835
|
0.00364
|
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
|
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu)
|
rs61734494
|
0.00363
|
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
|
NM_004304.5(ALK):c.4836G>A (p.Lys1612=)
|
rs78174819
|
0.00363
|
|
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=)
|
rs139155480
|
0.00363
|
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
|
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)
|
rs144020613
|
0.00362
|
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
|
NM_000335.5(SCN5A):c.4434+13C>T
|
rs148598985
|
0.00361
|
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
|
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser)
|
rs62640590
|
0.00361
|
|
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)
|
rs139512700
|
0.00361
|
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
|
NM_004333.6(BRAF):c.1141-19C>T
|
rs71645959
|
0.00360
|
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
|
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)
|
rs113641837
|
0.00359
|
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
|
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=)
|
rs141225367
|
0.00359
|
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
|
NM_014697.3(NOS1AP):c.384C>T (p.Ile128=)
|
rs41271969
|
0.00358
|
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00358
|
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
0.00356
|
|
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)
|
rs3827462
|
0.00356
|
|
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)
|
rs2227943
|
0.00355
|
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00354
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
|
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala)
|
rs300
|
0.00353
|
|
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met)
|
rs192749597
|
0.00353
|
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
|
NM_001042492.3(NF1):c.4577+12C>T
|
rs17878332
|
0.00352
|
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
|
NM_144670.6(A2ML1):c.462+18G>A
|
rs114265494
|
0.00352
|
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
|
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu)
|
rs3732309
|
0.00351
|
|
NM_000152.5(GAA):c.2646+39G>A
|
rs41292410
|
0.00350
|
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
|
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)
|
rs45548237
|
0.00350
|
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
|
NM_003235.5(TG):c.325A>G (p.Ile109Val)
|
rs35301433
|
0.00350
|
|
NM_006939.4(SOS2):c.1344G>A (p.Leu448=)
|
rs35530861
|
0.00350
|
|
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
|
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)
|
rs35605307
|
0.00349
|
|
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu)
|
rs201352230
|
0.00349
|
|
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr)
|
rs114449938
|
0.00349
|
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
|
NM_000048.4(ASL):c.556C>A (p.Arg186=)
|
rs111407265
|
0.00347
|
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
|
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)
|
rs144537241
|
0.00345
|
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
|
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)
|
rs2234462
|
0.00344
|
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
|
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)
|
rs139161034
|
0.00343
|
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
|
NM_004281.4(BAG3):c.606G>T (p.Pro202=)
|
rs74157690
|
0.00341
|
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
|
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala)
|
rs61741040
|
0.00340
|
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
|
NM_001643.2(APOA2):c.247C>T (p.Leu83=)
|
rs5088
|
0.00339
|
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
|
NM_016938.5(EFEMP2):c.368-18G>A
|
rs80047413
|
0.00337
|
|
NM_174936.4(PCSK9):c.1354+9G>T
|
rs72646516
|
0.00337
|
|
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)
|
rs147536058
|
0.00336
|
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
|
NM_001677.4(ATP1B1):c.222G>A (p.Pro74=)
|
rs144621395
|
0.00335
|
|
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=)
|
rs142355575
|
0.00335
|
|
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile)
|
rs148233131
|
0.00335
|
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
|
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)
|
rs116316039
|
0.00334
|
|
NM_148897.3(SDR9C7):c.215G>A (p.Arg72Gln)
|
rs61743538
|
0.00334
|
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
|
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=)
|
rs115854664
|
0.00333
|
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
|
NM_002317.7(LOX):c.225C>G (p.Ala75=)
|
rs2278226
|
0.00333
|
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
|
NM_003476.5(CSRP3):c.508+18C>T
|
rs144404101
|
0.00332
|
|
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)
|
rs145975461
|
0.00332
|
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
|
NM_004006.3(DMD):c.3276+17A>T
|
rs184220727
|
0.00329
|
|
NM_012186.3(FOXE3):c.601G>A (p.Val201Met)
|
rs530072475
|
0.00329
|
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
|
NM_001386795.1(DTNA):c.1435-19T>C
|
rs141620769
|
0.00328
|
|
NM_004281.4(BAG3):c.187C>G (p.Pro63Ala)
|
rs144041999
|
0.00328
|
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
|
NM_144670.6(A2ML1):c.3789C>G (p.Asn1263Lys)
|
rs144876785
|
0.00327
|
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
|
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)
|
rs35800931
|
0.00325
|
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
|
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)
|
rs201840554
|
0.00323
|
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00322
|
|
NM_003036.4(SKI):c.1410C>T (p.Pro470=)
|
rs150985728
|
0.00322
|
|
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met)
|
rs114842875
|
0.00322
|
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
|
NM_006231.4(POLE):c.123G>A (p.Thr41=)
|
rs5744734
|
0.00320
|
|
NM_017617.5(NOTCH1):c.5018+20C>T
|
rs139772121
|
0.00320
|
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
|
NM_017617.5(NOTCH1):c.1669+13G>A
|
rs147260092
|
0.00319
|
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
|
NM_001643.2(APOA2):c.288G>A (p.Gln96=)
|
rs6413454
|
0.00317
|
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
0.00317
|
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
|
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=)
|
rs34510365
|
0.00316
|
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
|
NM_001267550.2(TTN):c.25921+20G>A
|
rs148460010
|
0.00315
|
|
NM_004628.5(XPC):c.2066C>T (p.Thr689Met)
|
rs3731152
|
0.00315
|
|
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=)
|
rs115972723
|
0.00315
|
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
|
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)
|
rs201985795
|
0.00314
|
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
|
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
|
NM_138694.4(PKHD1):c.2715+7del
|
rs551015414
|
0.00313
|
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
|
NM_000518.4(HBB):c.-133G>A
|
rs72561473
|
0.00312
|
|
NM_001035.3(RYR2):c.11476+15C>T
|
rs192323827
|
0.00312
|
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
|
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=)
|
rs138168272
|
0.00312
|
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
|
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
|
rs28933390
|
0.00310
|
|
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)
|
rs74324101
|
0.00310
|
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
|
NM_002471.4(MYH6):c.1071C>T (p.Ile357=)
|
rs58131640
|
0.00309
|
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
|
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=)
|
rs116442127
|
0.00308
|
|
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)
|
rs73973137
|
0.00308
|
|
NM_005993.5(TBCD):c.2852+3A>G
|
rs187081192
|
0.00308
|
|
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)
|
rs113634293
|
0.00308
|
|
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)
|
rs72648931
|
0.00307
|
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
|
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)
|
rs61751535
|
0.00307
|
|
NM_000243.3(MEFV):c.-15C>G
|
rs11466015
|
0.00306
|
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
|
NM_001035.3(RYR2):c.11880+16G>A
|
rs73103904
|
0.00306
|
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
|
NM_000306.4(POU1F1):c.143-4A>T
|
rs35893626
|
0.00305
|
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
|
NM_001613.4(ACTA2):c.417G>A (p.Gln139=)
|
rs111265233
|
0.00305
|
|
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser)
|
rs150531306
|
0.00305
|
|
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
|
NM_000383.4(AIRE):c.1116G>A (p.Ser372=)
|
rs61737006
|
0.00304
|
|
NM_000383.4(AIRE):c.1400+10C>T
|
rs372277949
|
0.00304
|
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
|
NM_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
|
NM_000397.4(CYBB):c.654C>A (p.Gly218=)
|
rs35080474
|
0.00303
|
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
|
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys)
|
rs149946443
|
0.00303
|
|
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu)
|
rs547921381
|
0.00302
|
|
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)
|
rs138281308
|
0.00302
|
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
|
NM_001377540.1(SLMAP):c.2064C>T (p.Thr688=)
|
rs146313438
|
0.00301
|
|
NM_001677.4(ATP1B1):c.-1C>A
|
rs144750047
|
0.00301
|
|
NM_002163.4(IRF8):c.602C>T (p.Ala201Val)
|
rs144424711
|
0.00301
|
|
NM_005591.4(MRE11):c.771A>G (p.Glu257=)
|
rs13447632
|
0.00301
|
|
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)
|
rs114124210
|
0.00301
|
|
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
|
rs28903085
|
0.00300
|
|
NM_001063.4(TF):c.2012G>A (p.Gly671Glu)
|
rs121918677
|
0.00299
|
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
|
NM_006767.4(LZTR1):c.2373C>T (p.His791=)
|
rs148993324
|
0.00299
|
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458
|
0.00299
|
|
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val)
|
rs144615758
|
0.00298
|
|
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=)
|
rs61757672
|
0.00298
|
|
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=)
|
rs142023670
|
0.00298
|
|
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)
|
rs28730858
|
0.00297
|
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00297
|
|
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
0.00297
|
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
|
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
|
NM_002691.4(POLD1):c.783C>T (p.Val261=)
|
rs34269084
|
0.00296
|
|
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val)
|
rs142729919
|
0.00296
|
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
|
NM_005477.3(HCN4):c.1371+8C>T
|
rs199838832
|
0.00295
|
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
|
NM_002317.7(LOX):c.204C>T (p.Arg68=)
|
rs201057539
|
0.00294
|
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
|
NM_000238.4(KCNH2):c.3152+12C>A
|
rs72549420
|
0.00293
|
|
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)
|
rs146348818
|
0.00293
|
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
|
NM_000117.3(EMD):c.83-13C>G
|
rs201140396
|
0.00292
|
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
|
NM_000178.4(GSS):c.941C>T (p.Pro314Leu)
|
rs75863437
|
0.00292
|
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
|
NM_006231.4(POLE):c.846C>T (p.Pro282=)
|
rs5744758
|
0.00291
|
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
|
NM_017617.5(NOTCH1):c.5384+13C>T
|
rs112582298
|
0.00291
|
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
|
NM_000238.4(KCNH2):c.621C>T (p.Ser207=)
|
rs41314417
|
0.00289
|
|
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)
|
rs35819696
|
0.00289
|
|
NM_005751.5(AKAP9):c.9648A>G (p.Lys3216=)
|
rs146710448
|
0.00289
|
|
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)
|
rs2229972
|
0.00289
|
|
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=)
|
rs35320927
|
0.00289
|
|
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val)
|
rs36002219
|
0.00289
|
|
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=)
|
rs146960060
|
0.00289
|
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
|
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
0.00287
|
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
|
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)
|
rs142465959
|
0.00286
|
|
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)
|
rs587780375
|
0.00286
|
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
|
NM_000335.5(SCN5A):c.2436+12G>A
|
rs41312419
|
0.00284
|
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
|
NM_001032283.3(TMPO):c.565+1240G>A
|
rs139700737
|
0.00284
|
|
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)
|
rs148915045
|
0.00284
|
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
0.00284
|
|
NM_005591.4(MRE11):c.1783+5G>C
|
rs142082313
|
0.00284
|
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
|
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)
|
rs61737781
|
0.00283
|
|
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val)
|
rs143035190
|
0.00283
|
|
NM_016363.5(GP6):c.307C>G (p.Leu103Val)
|
rs28969501
|
0.00283
|
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
|
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)
|
rs149424724
|
0.00282
|
|
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=)
|
rs143603583
|
0.00282
|
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
|
NM_001458.5(FLNC):c.7780+10A>G
|
rs201149834
|
0.00281
|
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
|
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)
|
rs144829356
|
0.00280
|
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
|
NM_144670.6(A2ML1):c.2032G>T (p.Val678Leu)
|
rs148198269
|
0.00280
|
|
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)
|
rs72468638
|
0.00279
|
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
|
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser)
|
rs139963188
|
0.00279
|
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
|
NM_001365276.2(TNXB):c.6544+8T>A
|
rs150379644
|
0.00278
|
|
NM_032578.4(MYPN):c.1079-18T>C
|
rs114932559
|
0.00278
|
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
|
NM_014639.4(SKIC3):c.860A>G (p.Lys287Arg)
|
rs145168629
|
0.00277
|
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
|
NM_004100.5(EYA4):c.804+16G>T
|
rs13362743
|
0.00276
|
|
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=)
|
rs149408382
|
0.00276
|
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
|
NM_000053.4(ATP7B):c.1707+29dup
|
rs113829533
|
0.00273
|
|
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)
|
rs17850194
|
0.00273
|
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
|
NM_004333.6(BRAF):c.1517+20T>C
|
rs71645980
|
0.00273
|
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
|
NM_003480.4(MFAP5):c.6G>A (p.Ser2=)
|
rs4132450
|
0.00272
|
|
NM_006393.3(NEBL):c.2149-5G>A
|
rs71578956
|
0.00272
|
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
|
NM_001105206.3(LAMA4):c.422+20G>T
|
rs188820838
|
0.00271
|
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
|
NM_005184.4(CALM3):c.201G>A (p.Pro67=)
|
rs34089805
|
0.00271
|
|
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=)
|
rs116156469
|
0.00271
|
|
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)
|
rs143832120
|
0.00271
|
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00270
|
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
|
NM_001148.6(ANK2):c.1401A>G (p.Ala467=)
|
rs142159132
|
0.00269
|
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
0.00269
|
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
|
NM_000038.6(APC):c.4893T>C (p.Ser1631=)
|
rs35634377
|
0.00268
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
|
NM_145046.5(CALR3):c.1012-9T>C
|
rs144370982
|
0.00268
|
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
|
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=)
|
rs116128106
|
0.00267
|
|
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
|
NM_014000.3(VCL):c.3258+10A>T
|
rs71579379
|
0.00267
|
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
|
NM_013266.4(CTNNA3):c.1611G>A (p.Ala537=)
|
rs146900023
|
0.00266
|
|
NM_013975.4(LIG3):c.2961G>A (p.Ala987=)
|
rs76122405
|
0.00266
|
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
|
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)
|
rs28943592
|
0.00265
|
|
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=)
|
rs76685232
|
0.00265
|
|
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)
|
rs140350441
|
0.00265
|
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
|
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=)
|
rs1803241
|
0.00265
|
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
|
NM_005751.5(AKAP9):c.1053A>G (p.Lys351=)
|
rs368967178
|
0.00263
|
|
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala)
|
rs34552966
|
0.00263
|
|
NM_000733.4(CD3E):c.498G>A (p.Ala166=)
|
rs78373007
|
0.00262
|
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
|
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=)
|
rs80133984
|
0.00262
|
|
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)
|
rs148468628
|
0.00262
|
|
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His)
|
rs34086871
|
0.00262
|
|
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=)
|
rs146147503
|
0.00262
|
|
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)
|
rs2070031
|
0.00262
|
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
|
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=)
|
rs72647878
|
0.00261
|
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
|
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His)
|
rs55916807
|
0.00261
|
|
NM_020297.4(ABCC9):c.2093-7T>C
|
rs185235724
|
0.00261
|
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
|
NM_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
|
NM_001386795.1(DTNA):c.999C>T (p.Ile333=)
|
rs61737438
|
0.00258
|
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
|
NM_005591.4(MRE11):c.969A>G (p.Pro323=)
|
rs13447633
|
0.00258
|
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
|
NM_000233.4(LHCGR):c.458+3A>G
|
rs76210637
|
0.00257
|
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
|
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)
|
rs61781316
|
0.00257
|
|
NM_002834.5(PTPN11):c.332+17T>G
|
rs115658366
|
0.00257
|
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
|
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)
|
rs114896457
|
0.00256
|
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
|
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=)
|
rs201247776
|
0.00256
|
|
NM_000038.6(APC):c.3264G>A (p.Lys1088=)
|
rs114774495
|
0.00255
|
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
|
NM_000527.5(LDLR):c.*13A>G
|
rs72658871
|
0.00255
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
|
NM_001103.4(ACTN2):c.2368-17T>C
|
rs78961574
|
0.00255
|
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
|
NM_013266.4(CTNNA3):c.483C>T (p.Leu161=)
|
rs74142830
|
0.00255
|
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00254
|
|
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser)
|
rs61732851
|
0.00254
|
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
|
NM_000335.5(SCN5A):c.1890+14G>A
|
rs145427253
|
0.00252
|
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
|
NM_001458.5(FLNC):c.4737+15A>G
|
rs182734223
|
0.00252
|
|
NM_006393.3(NEBL):c.154-11C>A
|
rs41277376
|
0.00252
|
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
|
NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg)
|
rs75617691
|
0.00252
|
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
|
NM_001128590.1(CYP21A2):c.-113G>A
|
rs1246774295
|
0.00251
|
|
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)
|
rs139223781
|
0.00251
|
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
|
NM_000277.3(PAH):c.1315+20C>T
|
rs190655222
|
0.00250
|
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
|
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)
|
rs76177450
|
0.00250
|
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00249
|
|
NM_000243.3(MEFV):c.1587+18C>T
|
rs11466030
|
0.00248
|
|
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)
|
rs61752766
|
0.00248
|
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
|
NM_006514.4(SCN10A):c.3229-20C>T
|
rs73825880
|
0.00248
|
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
|
NM_014000.3(VCL):c.2023-20A>G
|
rs143756084
|
0.00247
|
|
NM_001177316.2(SLC34A3):c.679G>A (p.Ala227Thr)
|
rs200814479
|
0.00246
|
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00245
|
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
|
NM_001378454.1(ALMS1):c.2730C>T (p.His910=)
|
rs189923349
|
0.00245
|
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
|
NM_005159.5(ACTC1):c.454+9G>A
|
rs148695567
|
0.00245
|
|
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)
|
rs143584663
|
0.00245
|
|
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=)
|
rs145249947
|
0.00245
|
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
|
NM_001134363.3(RBM20):c.150A>T (p.Pro50=)
|
rs376936285
|
0.00244
|
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
|
NM_001711.6(BGN):c.357C>T (p.Leu119=)
|
rs146322407
|
0.00243
|
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
|
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=)
|
rs45437099
|
0.00242
|
|
NM_001085049.3(MRAS):c.306C>T (p.His102=)
|
rs138905383
|
0.00242
|
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
|
NM_000719.7(CACNA1C):c.4623+13G>A
|
rs111734850
|
0.00241
|
|
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro)
|
rs143894795
|
0.00241
|
|
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=)
|
rs116344406
|
0.00241
|
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
|
NM_001711.6(BGN):c.573C>T (p.Gly191=)
|
rs148808913
|
0.00240
|
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
|
NM_006231.4(POLE):c.51C>G (p.Gly17=)
|
rs780436496
|
0.00240
|
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
|
NM_021871.4(FGA):c.181-14C>T
|
rs190703077
|
0.00240
|
|
NM_021871.4(FGA):c.300G>A (p.Lys100=)
|
rs112877216
|
0.00240
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_000093.5(COL5A1):c.110-19T>C
|
rs148294644
|
0.00239
|
|
NM_001035.3(RYR2):c.6441-19C>T
|
rs140440259
|
0.00239
|
|
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)
|
rs61756328
|
0.00239
|
|
NM_000048.4(ASL):c.162C>T (p.Leu54=)
|
rs140221164
|
0.00238
|
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
|
NM_002471.4(MYH6):c.1449C>T (p.Asn483=)
|
rs145447555
|
0.00238
|
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
|
NM_174936.4(PCSK9):c.1681+17G>A
|
rs200529774
|
0.00238
|
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
|
NM_000492.4(CFTR):c.3717+130_3717+131del
|
rs4148721
|
0.00237
|
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
|
NM_000204.5(CFI):c.548A>G (p.His183Arg)
|
rs75612300
|
0.00236
|
|
NM_015627.3(LDLRAP1):c.713G>A (p.Arg238Gln)
|
rs148579379
|
0.00236
|
|
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
|
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)
|
rs141688356
|
0.00235
|
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
|
NM_001035.3(RYR2):c.2204-16G>T
|
rs368648602
|
0.00235
|
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
|
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)
|
rs121913212
|
0.00235
|
|
NM_005751.5(AKAP9):c.11098-13T>G
|
rs76709221
|
0.00235
|
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
|
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)
|
rs113491038
|
0.00235
|
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
|
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys)
|
rs73996408
|
0.00233
|
|
NM_000237.3(LPL):c.429+20A>C
|
rs3735959
|
0.00233
|
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
|
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=)
|
rs34964168
|
0.00232
|
|
NM_001308093.3(GATA4):c.462C>T (p.Phe154=)
|
rs56348550
|
0.00232
|
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
|
NM_005188.4(CBL):c.869+19A>G
|
rs181589369
|
0.00232
|
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
|
NM_005911.6(MAT2A):c.108A>G (p.Gln36=)
|
rs115257622
|
0.00232
|
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn)
|
rs80257412
|
0.00230
|
|
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met)
|
rs121434235
|
0.00230
|
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
|
NM_000277.3(PAH):c.441+20G>A
|
rs111842675
|
0.00229
|
|
NM_000552.5(VWF):c.4315G>A (p.Val1439Met)
|
rs150077670
|
0.00229
|
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
|
NM_006949.4(STXBP2):c.365G>A (p.Arg122His)
|
rs144914451
|
0.00229
|
|
NM_053025.4(MYLK):c.24C>G (p.Ala8=)
|
rs78118111
|
0.00229
|
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
|
NM_000238.4(KCNH2):c.558C>T (p.Gly186=)
|
rs139533994
|
0.00228
|
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
|
NM_014000.3(VCL):c.1671C>T (p.Asp557=)
|
rs137877092
|
0.00228
|
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
|
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)
|
rs142688906
|
0.00227
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
|
NM_001024613.4(FEZF1):c.937-10T>G
|
rs369157481
|
0.00226
|
|
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)
|
rs138573101
|
0.00226
|
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00225
|
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
|
NM_005002.5(NDUFA9):c.942A>G (p.Ile314Met)
|
rs139674448
|
0.00225
|
|
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala)
|
rs147287437
|
0.00225
|
|
NM_144670.6(A2ML1):c.1745A>G (p.Gln582Arg)
|
rs200271507
|
0.00225
|
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00224
|
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
|
NM_001099857.5(IKBKG):c.399+19G>C
|
rs386134239
|
0.00223
|
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
|
NM_005633.4(SOS1):c.3081+13A>G
|
rs189695571
|
0.00223
|
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
|
NM_000088.4(COL1A1):c.999C>T (p.Pro333=)
|
rs62637627
|
0.00222
|
|
NM_000383.4(AIRE):c.1296G>A (p.Ala432=)
|
rs144359012
|
0.00222
|
|
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg)
|
rs145125264
|
0.00222
|
|
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)
|
rs141191319
|
0.00222
|
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
|
NM_006506.5(RASA2):c.1020+20G>A
|
rs113251297
|
0.00222
|
|
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=)
|
rs117346988
|
0.00222
|
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
|
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg)
|
rs147659164
|
0.00222
|
|
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu)
|
rs61736876
|
0.00221
|
|
NM_000527.5(LDLR):c.2390-16G>A
|
rs183496025
|
0.00221
|
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
|
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu)
|
rs149879954
|
0.00221
|
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
|
NM_001001548.3(CD36):c.429+2T>C
|
rs3211893
|
0.00220
|
|
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)
|
rs147060179
|
0.00220
|
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
|
NM_005911.6(MAT2A):c.501A>G (p.Leu167=)
|
rs75623534
|
0.00220
|
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
|
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)
|
rs138506461
|
0.00219
|
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
|
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)
|
rs80203202
|
0.00219
|
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
|
NM_004281.4(BAG3):c.-17G>A
|
rs200388926
|
0.00218
|
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
|
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter)
|
rs141733590
|
0.00217
|
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
|
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)
|
rs61750625
|
0.00217
|
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
0.00217
|
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
|
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser)
|
rs148356370
|
0.00217
|
|
NM_005993.5(TBCD):c.1467A>G (p.Ala489=)
|
rs139629551
|
0.00217
|
|
NM_006172.4(NPPA):c.83T>C (p.Met28Thr)
|
rs142116829
|
0.00217
|
|
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)
|
rs149602485
|
0.00217
|
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
|
NM_000416.3(IFNGR1):c.216A>G (p.Glu72=)
|
rs141574133
|
0.00216
|
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
|
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)
|
rs112241748
|
0.00216
|
|
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)
|
rs139010200
|
0.00216
|
|
NM_144670.6(A2ML1):c.2029-5A>C
|
rs145965024
|
0.00216
|
|
NM_144670.6(A2ML1):c.2713-8C>A
|
rs184386564
|
0.00216
|
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
|
NM_000270.4(PNP):c.543G>C (p.Met181Ile)
|
rs145773529
|
0.00215
|
|
NM_000545.8(HNF1A):c.252C>T (p.Pro84=)
|
rs78772552
|
0.00215
|
|
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=)
|
rs34785693
|
0.00215
|
|
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)
|
rs79232842
|
0.00215
|
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
|
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr)
|
rs114620717
|
0.00215
|
|
NM_005911.6(MAT2A):c.318G>T (p.Val106=)
|
rs72940560
|
0.00215
|
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
|
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)
|
rs35765535
|
0.00213
|
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00212
|
|
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala)
|
rs1801698
|
0.00212
|
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
|
NM_001061.7(TBXAS1):c.1270C>T (p.Arg424Cys)
|
rs5762
|
0.00212
|
|
NM_001267550.2(TTN):c.1068G>A (p.Glu356=)
|
rs144716589
|
0.00212
|
|
NM_001458.5(FLNC):c.2889G>A (p.Pro963=)
|
rs191892345
|
0.00212
|
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
|
NM_053025.4(MYLK):c.755-12C>T
|
rs138877679
|
0.00212
|
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
|
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=)
|
rs148517180
|
0.00210
|
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
|
NM_004625.4(WNT7A):c.861G>A (p.Val287=)
|
rs149962459
|
0.00210
|
|
NM_005751.5(AKAP9):c.6331-8T>C
|
rs186211000
|
0.00210
|
|
NM_144670.6(A2ML1):c.621T>C (p.Gly207=)
|
rs145494834
|
0.00210
|
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
|
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)
|
rs150303433
|
0.00209
|
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
|
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)
|
rs142636176
|
0.00208
|
|
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)
|
rs140926982
|
0.00208
|
|
NM_001267550.2(TTN):c.289G>A (p.Val97Met)
|
rs185921345
|
0.00208
|
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
|
NM_001330.5(CTF1):c.591C>G (p.Pro197=)
|
rs397516652
|
0.00208
|
|
NM_002471.4(MYH6):c.3979-7dup
|
rs545343612
|
0.00208
|
|
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=)
|
rs150081280
|
0.00208
|
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
|
NM_012452.3(TNFRSF13B):c.*98dup
|
rs555681458
|
0.00208
|
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
|
NM_001005242.3(PKP2):c.1379-18A>G
|
rs113698150
|
0.00207
|
|
NM_001035.3(RYR2):c.2396+17T>G
|
rs376363428
|
0.00207
|
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
|
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=)
|
rs115324990
|
0.00207
|
|
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=)
|
rs142375989
|
0.00207
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
|
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg)
|
rs79149293
|
0.00207
|
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
0.00206
|
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
|
NM_001625.4(AK2):c.602A>T (p.Tyr201Phe)
|
rs113711467
|
0.00206
|
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
|
NM_005002.5(NDUFA9):c.655+17A>G
|
rs149534005
|
0.00206
|
|
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)
|
rs121913208
|
0.00206
|
|
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=)
|
rs61735044
|
0.00206
|
|
NM_000520.5(HEXA):c.-2523T>C
|
rs189707796
|
0.00205
|
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
|
NM_001148.6(ANK2):c.2277+9C>T
|
rs141965666
|
0.00205
|
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
|
NM_006231.4(POLE):c.5334C>T (p.Ala1778=)
|
rs11146986
|
0.00205
|
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
|
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)
|
rs201074268
|
0.00204
|
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
|
NM_001005242.3(PKP2):c.2168-19T>A
|
rs527736735
|
0.00203
|
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
|
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=)
|
rs140495935
|
0.00202
|
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00201
|
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
|
NM_003098.3(SNTA1):c.311-6G>C
|
rs139532210
|
0.00201
|
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
|
NM_033337.3(CAV3):c.-1G>A
|
rs74377241
|
0.00201
|
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
|
NM_001099857.5(IKBKG):c.518+7C>T
|
rs386134241
|
0.00200
|
|
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)
|
rs66785829
|
0.00200
|
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
|
NM_001384732.1(CPLANE1):c.8779A>G (p.Met2927Val)
|
rs143626904
|
0.00200
|
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
|
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala)
|
rs36049318
|
0.00200
|
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
|
NM_001999.4(FBN2):c.-17C>G
|
rs372089451
|
0.00199
|
|
NM_002471.4(MYH6):c.4416A>G (p.Ser1472=)
|
rs140800076
|
0.00199
|
|
NM_000153.4(GALC):c.195+19G>A
|
rs189853941
|
0.00198
|
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
|
NM_000363.5(TNNI3):c.273G>A (p.Ala91=)
|
rs75491697
|
0.00198
|
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
|
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)
|
rs572545726
|
0.00198
|
|
NM_004006.3(DMD):c.10087-20C>T
|
rs41303187
|
0.00198
|
|
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=)
|
rs13306077
|
0.00198
|
|
NM_006231.4(POLE):c.2106G>T (p.Gly702=)
|
rs5744801
|
0.00198
|
|
NM_014000.3(VCL):c.2434+19T>C
|
rs188216596
|
0.00198
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)
|
rs143972075
|
0.00198
|
|
NM_032578.4(MYPN):c.1893G>A (p.Arg631=)
|
rs145440469
|
0.00198
|
|
NM_000155.4(GALT):c.377+55T>C
|
rs184214383
|
0.00197
|
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
0.00197
|
|
NM_002691.4(POLD1):c.56G>A (p.Arg19His)
|
rs3218773
|
0.00197
|
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
|
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile)
|
rs142220417
|
0.00197
|
|
NM_000053.4(ATP7B):c.3060+16G>T
|
rs76163470
|
0.00196
|
|
NM_000153.4(GALC):c.1632T>C (p.Asp544=)
|
rs9672064
|
0.00196
|
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
0.00196
|
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
|
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)
|
rs112319661
|
0.00195
|
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
|
NM_004006.3(DMD):c.2380+11G>A
|
rs183120304
|
0.00195
|
|
NM_015141.4(GPD1L):c.981G>A (p.Val327=)
|
rs144877595
|
0.00195
|
|
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)
|
rs35962301
|
0.00195
|
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
|
NM_001165963.4(SCN1A):c.3550+11G>T
|
rs202142409
|
0.00194
|
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
|
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)
|
rs144029176
|
0.00193
|
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
|
NM_014000.3(VCL):c.1353-19G>A
|
rs145537824
|
0.00193
|
|
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)
|
rs76458291
|
0.00193
|
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
|
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=)
|
rs56108371
|
0.00192
|
|
NM_005502.4(ABCA1):c.2338-17T>C
|
rs182899836
|
0.00192
|
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
|
NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=)
|
rs116662854
|
0.00191
|
|
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
|
rs41291054
|
0.00191
|
|
NM_174936.4(PCSK9):c.225T>C (p.Pro75=)
|
rs146563151
|
0.00191
|
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
|
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970
|
0.00190
|
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
|
NM_001042492.3(NF1):c.2553C>T (p.Cys851=)
|
rs2230852
|
0.00190
|
|
NM_001164508.2(NEB):c.10452+9A>G
|
rs117270796
|
0.00190
|
|
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=)
|
rs117018177
|
0.00190
|
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
|
NM_145046.5(CALR3):c.483C>A (p.Ile161=)
|
rs143158265
|
0.00190
|
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
|
NM_005732.4(RAD50):c.3165-8T>G
|
rs369581851
|
0.00189
|
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
|
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro)
|
rs72650695
|
0.00189
|
|
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=)
|
rs77249928
|
0.00189
|
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
|
NM_001032283.3(TMPO):c.565+1728G>C
|
rs145703021
|
0.00188
|
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
|
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
|
rs116572520
|
0.00188
|
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
|
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu)
|
rs76389306
|
0.00188
|
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
0.00188
|
|
NM_005188.4(CBL):c.1359A>C (p.Pro453=)
|
rs34732429
|
0.00188
|
|
NM_006393.3(NEBL):c.1869+8C>G
|
rs188529864
|
0.00188
|
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00187
|
|
NM_000368.5(TSC1):c.106+15A>G
|
rs80258442
|
0.00187
|
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
|
NM_013975.4(LIG3):c.2331+19G>A
|
rs3136015
|
0.00186
|
|
NM_000532.5(PCCB):c.184-12G>T
|
rs181283691
|
0.00185
|
|
NM_001235.5(SERPINH1):c.722-13G>A
|
rs116506210
|
0.00185
|
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
|
NM_001367624.2(ZNF469):c.5644G>A (p.Ala1882Thr)
|
rs74032866
|
0.00185
|
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
|
NM_005188.4(CBL):c.870-19del
|
rs548130600
|
0.00185
|
|
NM_006258.4(PRKG1):c.906A>C (p.Gly302=)
|
rs145917628
|
0.00185
|
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
|
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)
|
rs76757102
|
0.00185
|
|
NR_003051.3(RMRP):n.-3C>T
|
rs138660393
|
0.00185
|
|
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)
|
rs149131555
|
0.00184
|
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
|
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)
|
rs147438064
|
0.00184
|
|
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)
|
rs147435410
|
0.00184
|
|
NM_000237.3(LPL):c.456T>C (p.Asn152=)
|
rs116678290
|
0.00183
|
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
|
NM_000527.5(LDLR):c.1545C>T (p.Asn515=)
|
rs147896205
|
0.00183
|
|
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=)
|
rs3821324
|
0.00183
|
|
NM_006767.4(LZTR1):c.741C>T (p.Ser247=)
|
rs114458679
|
0.00183
|
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
|
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)
|
rs144022614
|
0.00183
|
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
|
NM_001165963.4(SCN1A):c.3705+12T>G
|
rs147032678
|
0.00181
|
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
|
NM_001370259.2(MEN1):c.597C>T (p.His199=)
|
rs150512958
|
0.00181
|
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
|
NM_016653.3(MAP3K20):c.744+9A>G
|
rs148211031
|
0.00181
|
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
|
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=)
|
rs111888319
|
0.00180
|
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
|
NM_030662.4(MAP2K2):c.303+11C>T
|
rs200405512
|
0.00179
|
|
NM_033118.4(MYLK2):c.1295+4C>A
|
rs113936360
|
0.00179
|
|
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)
|
rs143711562
|
0.00178
|
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
|
NM_001458.5(FLNC):c.561C>T (p.Asp187=)
|
rs149474376
|
0.00178
|
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
|
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)
|
rs143717242
|
0.00178
|
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
|
NM_001079.4(ZAP70):c.1605C>T (p.Tyr535=)
|
rs11889573
|
0.00177
|
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
|
NM_016169.4(SUFU):c.*20=
|
rs4917980
|
0.00177
|
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
|
NM_052845.4(MMAB):c.185C>T (p.Thr62Met)
|
rs115802744
|
0.00177
|
|
NM_144670.6(A2ML1):c.9T>A (p.Ala3=)
|
rs151044194
|
0.00177
|
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
|
NM_000383.4(AIRE):c.63C>T (p.Ala21=)
|
rs371796437
|
0.00176
|
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
|
NM_000301.5(PLG):c.1878-6T>C
|
rs192519670
|
0.00175
|
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
|
NM_000719.7(CACNA1C):c.1669+10G>A
|
rs576194052
|
0.00175
|
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
|
NM_001994.3(F13B):c.1163A>T (p.Glu388Val)
|
rs5991
|
0.00175
|
|
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)
|
rs28763923
|
0.00175
|
|
NM_004281.4(BAG3):c.25A>G (p.Met9Val)
|
rs137965903
|
0.00175
|
|
NM_005751.5(AKAP9):c.5978-4A>G
|
rs147494754
|
0.00175
|
|
NM_020778.5(ALPK3):c.3965+11G>A
|
rs117116043
|
0.00175
|
|
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys)
|
rs145656924
|
0.00175
|
|
NM_000093.5(COL5A1):c.277+6T>G
|
rs201910803
|
0.00174
|
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
|
NM_001105206.3(LAMA4):c.196-9C>T
|
rs144850734
|
0.00174
|
|
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile)
|
rs3734292
|
0.00174
|
|
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=)
|
rs148831568
|
0.00174
|
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
|
NM_001077653.2(TBX20):c.297A>G (p.Lys99=)
|
rs79990622
|
0.00173
|
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00173
|
|
NM_020975.6(RET):c.468C>T (p.Ala156=)
|
rs141290380
|
0.00173
|
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
|
NM_001854.4(COL11A1):c.3024+13T>C
|
rs201141572
|
0.00172
|
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
|
NM_015175.3(NBEAL2):c.5600C>T (p.Thr1867Ile)
|
rs187699322
|
0.00172
|
|
NM_144670.6(A2ML1):c.196C>T (p.Leu66=)
|
rs185519272
|
0.00172
|
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
|
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln)
|
rs118191309
|
0.00171
|
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
|
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=)
|
rs74949176
|
0.00170
|
|
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln)
|
rs142960268
|
0.00170
|
|
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu)
|
rs145895389
|
0.00170
|
|
NM_001163735.2(MYO19):c.1024G>A (p.Glu342Lys)
|
rs200728833
|
0.00170
|
|
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)
|
rs190565627
|
0.00170
|
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
|
NM_013266.4(CTNNA3):c.580-8C>T
|
rs141983252
|
0.00170
|
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00169
|
|
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn)
|
rs758419331
|
0.00169
|
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
|
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala)
|
rs143743709
|
0.00168
|
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
|
NM_001377.3(DYNC2H1):c.6894-4G>A
|
rs17100043
|
0.00168
|
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00168
|
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
|
NM_007078.3(LDB3):c.954C>T (p.Pro318=)
|
rs45603139
|
0.00168
|
|
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)
|
rs71352737
|
0.00168
|
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
|
NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val)
|
rs115624293
|
0.00167
|
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
|
NM_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
|
NM_005188.4(CBL):c.2484G>A (p.Pro828=)
|
rs149533467
|
0.00166
|
|
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn)
|
rs138880920
|
0.00166
|
|
NM_030777.4(SLC2A10):c.-15C>T
|
rs377142129
|
0.00166
|
|
NM_031885.5(BBS2):c.1081-18G>T
|
rs142558653
|
0.00166
|
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
|
NM_000268.4(NF2):c.*4G>A
|
rs141099051
|
0.00165
|
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
|
NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=)
|
rs183104951
|
0.00165
|
|
NM_001852.4(COL9A2):c.250-7T>C
|
rs146943340
|
0.00165
|
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
|
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg)
|
rs145847114
|
0.00165
|
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
|
NM_000204.5(CFI):c.916A>G (p.Ile306Val)
|
rs113273712
|
0.00164
|
|
NM_000321.3(RB1):c.2212-6C>T
|
rs776162179
|
0.00164
|
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00163
|
|
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)
|
rs115813214
|
0.00163
|
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
|
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)
|
rs149096794
|
0.00163
|
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00163
|
|
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=)
|
rs113792127
|
0.00163
|
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
|
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)
|
rs79632685
|
0.00162
|
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
|
NM_001035.3(RYR2):c.13782+20A>G
|
rs368059068
|
0.00162
|
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
|
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr)
|
rs201149160
|
0.00162
|
|
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=)
|
rs80009262
|
0.00162
|
|
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala)
|
rs35489395
|
0.00162
|
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
|
NM_014391.3(ANKRD1):c.208-16C>T
|
rs79793575
|
0.00161
|
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
|
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe)
|
rs147109119
|
0.00160
|
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
|
NM_001711.6(BGN):c.310G>A (p.Glu104Lys)
|
rs150272427
|
0.00160
|
|
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=)
|
rs142239617
|
0.00160
|
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
|
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)
|
rs201904226
|
0.00160
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
|
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile)
|
rs11574115
|
0.00159
|
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
|
NM_005502.4(ABCA1):c.2543-3C>T
|
rs139457469
|
0.00159
|
|
NM_006767.4(LZTR1):c.201-13C>T
|
rs191677014
|
0.00159
|
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
|
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)
|
rs2271683
|
0.00158
|
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
|
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)
|
rs1800170
|
0.00158
|
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
|
NM_001370259.2(MEN1):c.-20G>A
|
rs386134244
|
0.00158
|
|
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser)
|
rs142022233
|
0.00158
|
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
|
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His)
|
rs141856443
|
0.00158
|
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
|
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr)
|
rs150488553
|
0.00158
|
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
|
NM_000143.4(FH):c.1236+14C>T
|
rs149241949
|
0.00157
|
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
|
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)
|
rs554989865
|
0.00157
|
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
|
NM_015202.5(KATNIP):c.4846C>T (p.Arg1616Trp)
|
rs142205612
|
0.00157
|
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
|
NM_000138.5(FBN1):c.1714+54del
|
rs193922184
|
0.00156
|
|
NM_000238.4(KCNH2):c.1129-18C>T
|
rs78794789
|
0.00156
|
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
|
NM_001035.3(RYR2):c.14756+12C>T
|
rs2275693
|
0.00156
|
|
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=)
|
rs56173868
|
0.00156
|
|
NM_001267550.2(TTN):c.30598+15C>T
|
rs79685525
|
0.00156
|
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
|
NM_005732.4(RAD50):c.2091C>T (p.Val697=)
|
rs61747588
|
0.00156
|
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
|
NM_000195.5(HPS1):c.680G>T (p.Ser227Ile)
|
rs548033666
|
0.00155
|
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
|
NM_003480.4(MFAP5):c.410-18G>A
|
rs151240610
|
0.00155
|
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
|
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)
|
rs114782902
|
0.00155
|
|
NM_006506.5(RASA2):c.761+8C>T
|
rs143073468
|
0.00155
|
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
|
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys)
|
rs79295927
|
0.00155
|
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
|
NM_000136.3(FANCC):c.840G>A (p.Ser280=)
|
rs34671520
|
0.00154
|
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
|
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=)
|
rs368834798
|
0.00154
|
|
NM_005685.4(GTF2IRD1):c.2050A>G (p.Ile684Val)
|
rs149209759
|
0.00154
|
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
|
NM_017636.4(TRPM4):c.1873+13C>G
|
rs184297107
|
0.00154
|
|
NM_032578.4(MYPN):c.1104C>T (p.Gly368=)
|
rs144764983
|
0.00154
|
|
NM_032588.4(TRIM63):c.375C>T (p.His125=)
|
rs144196126
|
0.00154
|
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
|
NM_000245.4(MET):c.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
|
NM_001032283.3(TMPO):c.87C>T (p.Ala29=)
|
rs114074541
|
0.00153
|
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00153
|
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
|
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr)
|
rs111033566
|
0.00153
|
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
|
NM_003665.4(FCN3):c.232+1G>A
|
rs141300199
|
0.00153
|
|
NM_004281.4(BAG3):c.909+17G>A
|
rs139086861
|
0.00153
|
|
NM_005901.6(SMAD2):c.998-18A>G
|
rs189675475
|
0.00153
|
|
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=)
|
rs139493914
|
0.00153
|
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
|
NM_022114.4(PRDM16):c.201G>A (p.Pro67=)
|
rs199614349
|
0.00153
|
|
NM_053025.4(MYLK):c.4620-18G>A
|
rs41305835
|
0.00153
|
|
NM_053025.4(MYLK):c.5501-20G>A
|
rs186240444
|
0.00153
|
|
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)
|
rs78028658
|
0.00153
|
|
NM_001854.4(COL11A1):c.*17A>G
|
rs190728953
|
0.00152
|
|
NM_002691.4(POLD1):c.971-4G>A
|
rs200144991
|
0.00152
|
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
|
NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=)
|
rs41288979
|
0.00151
|
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
|
NM_001378454.1(ALMS1):c.10079-11C>T
|
rs368250605
|
0.00151
|
|
NM_001458.5(FLNC):c.2389+12C>T
|
rs370526829
|
0.00151
|
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
|
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)
|
rs114549781
|
0.00150
|
|
NM_001643.2(APOA2):c.186-19A>C
|
rs200191201
|
0.00150
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
|
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His)
|
rs3213760
|
0.00150
|
|
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)
|
rs138167675
|
0.00150
|
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
|
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)
|
rs72549326
|
0.00149
|
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
|
NM_004612.4(TGFBR1):c.-2C>T
|
rs200224304
|
0.00149
|
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
|
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val)
|
rs139113046
|
0.00148
|
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
0.00148
|
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
|
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)
|
rs192683347
|
0.00148
|
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
|
NM_000363.5(TNNI3):c.109-17C>A
|
rs139150276
|
0.00147
|
|
NM_000426.4(LAMA2):c.1782+14T>C
|
rs191215452
|
0.00147
|
|
NM_001103.4(ACTN2):c.1515+15C>T
|
rs368107695
|
0.00147
|
|
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn)
|
rs145192583
|
0.00147
|
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
|
NM_006361.6(HOXB13):c.735G>A (p.Lys245=)
|
rs138675188
|
0.00147
|
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
|
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)
|
rs121908326
|
0.00147
|
|
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)
|
rs200099319
|
0.00147
|
|
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
|
rs61752346
|
0.00147
|
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
|
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)
|
rs145201970
|
0.00146
|
|
NM_000218.3(KCNQ1):c.1032+11C>T
|
rs201144841
|
0.00146
|
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
|
NM_001035.3(RYR2):c.309+7C>T
|
rs377710043
|
0.00146
|
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
|
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
|
rs145204073
|
0.00146
|
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
|
NM_002471.4(MYH6):c.3979-15C>A
|
rs529249069
|
0.00146
|
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
0.00146
|
|
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)
|
rs61757665
|
0.00146
|
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
|
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val)
|
rs113348354
|
0.00146
|
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
|
NM_000518.5(HBB):c.432C>T (p.His144=)
|
rs36020563
|
0.00145
|
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
|
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)
|
rs115742584
|
0.00145
|
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_002617.4(PEX10):c.495C>T (p.Phe165=)
|
rs150344828
|
0.00145
|
|
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)
|
rs201892150
|
0.00145
|
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
|
NM_004612.4(TGFBR1):c.1387-14dup
|
rs863223800
|
0.00145
|
|
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=)
|
rs142473861
|
0.00145
|
|
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
|
rs76881554
|
0.00145
|
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
|
NM_020433.5(JPH2):c.642G>A (p.Ala214=)
|
rs587780956
|
0.00145
|
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
|
NM_139276.3(STAT3):c.1680C>T (p.Ser560=)
|
rs146817483
|
0.00145
|
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
|
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu)
|
rs151344452
|
0.00144
|
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
|
NM_001458.5(FLNC):c.4456+14G>A
|
rs375227447
|
0.00144
|
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
|
NM_004304.5(ALK):c.2915-9T>C
|
rs373765395
|
0.00144
|
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
|
NM_000416.3(IFNGR1):c.200+15T>G
|
rs17175329
|
0.00143
|
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
|
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=)
|
rs181226362
|
0.00143
|
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00143
|
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
|
NM_006506.5(RASA2):c.252-18C>G
|
rs184922882
|
0.00143
|
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
|
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg)
|
rs137854904
|
0.00142
|
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
|
NM_001458.5(FLNC):c.3861C>T (p.His1287=)
|
rs375986462
|
0.00142
|
|
NM_002471.4(MYH6):c.3979-7T>G
|
rs535111647
|
0.00142
|
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
|
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)
|
rs72542427
|
0.00142
|
|
NM_000363.5(TNNI3):c.373-15C>G
|
rs192630178
|
0.00141
|
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
|
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)
|
rs150733188
|
0.00141
|
|
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)
|
rs6706088
|
0.00141
|
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
|
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=)
|
rs61742726
|
0.00141
|
|
NM_001711.6(BGN):c.111C>T (p.Asn37=)
|
rs145819764
|
0.00141
|
|
NM_004281.4(BAG3):c.549C>G (p.Ser183=)
|
rs112929734
|
0.00141
|
|
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=)
|
rs145246003
|
0.00141
|
|
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)
|
rs28903090
|
0.00141
|
|
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln)
|
rs149679266
|
0.00141
|
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
|
NM_000237.3(LPL):c.1128C>T (p.Ile376=)
|
rs299
|
0.00140
|
|
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)
|
rs111422496
|
0.00140
|
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
|
NM_002691.4(POLD1):c.2577C>T (p.Gly859=)
|
rs149366027
|
0.00140
|
|
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg)
|
rs17883283
|
0.00140
|
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
|
NM_015141.4(GPD1L):c.*18G>T
|
rs12629676
|
0.00140
|
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
|
NM_020297.4(ABCC9):c.924T>C (p.Asp308=)
|
rs139127928
|
0.00140
|
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
|
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)
|
rs142409885
|
0.00139
|
|
NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=)
|
rs369165766
|
0.00139
|
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
|
NM_017617.5(NOTCH1):c.2207+16G>A
|
rs200956009
|
0.00139
|
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
0.00138
|
|
NM_001110556.2(FLNA):c.942A>G (p.Gly314=)
|
rs200763980
|
0.00138
|
|
NM_001365276.2(TNXB):c.10046-4C>T
|
rs41267134
|
0.00138
|
|
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=)
|
rs140670994
|
0.00138
|
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
|
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
|
rs115444936
|
0.00138
|
|
NM_013975.4(LIG3):c.471C>A (p.Ile157=)
|
rs61749869
|
0.00138
|
|
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)
|
rs201210527
|
0.00138
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_030662.3(MAP2K2):c.*19C>T
|
rs145743390
|
0.00138
|
|
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp)
|
rs77431272
|
0.00138
|
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
|
NM_000071.3(CBS):c.1359-14C>T
|
rs115185587
|
0.00137
|
|
NM_000088.4(COL1A1):c.2236-17C>G
|
rs193922146
|
0.00137
|
|
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)
|
rs184218219
|
0.00137
|
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
|
NM_001267550.2(TTN):c.48460+8C>T
|
rs2288565
|
0.00137
|
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
|
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)
|
rs142401936
|
0.00137
|
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
|
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys)
|
rs184903112
|
0.00137
|
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
|
NM_002709.3(PPP1CB):c.27C>T (p.Asp9=)
|
rs141050112
|
0.00136
|
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
|
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=)
|
rs141156177
|
0.00136
|
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
|
NM_001377304.1(GFI1B):c.293C>T (p.Ser98Leu)
|
rs143926538
|
0.00135
|
|
NM_001458.5(FLNC):c.2122-17T>C
|
rs144828462
|
0.00135
|
|
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=)
|
rs113618587
|
0.00135
|
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
|
NM_003235.5(TG):c.1567T>C (p.Ser523Pro)
|
rs116062097
|
0.00135
|
|
NM_006393.3(NEBL):c.2685C>T (p.Asp895=)
|
rs140245727
|
0.00135
|
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
|
NM_000527.5(LDLR):c.1323C>T (p.Ile441=)
|
rs5933
|
0.00134
|
|
NM_001134363.3(RBM20):c.1528-16T>C
|
rs191166138
|
0.00134
|
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
|
NM_005141.5(FGB):c.298C>T (p.Pro100Ser)
|
rs2227434
|
0.00134
|
|
NM_012186.3(FOXE3):c.276C>T (p.Leu92=)
|
rs143712915
|
0.00134
|
|
NM_017617.5(NOTCH1):c.3511-10G>A
|
rs139838537
|
0.00134
|
|
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser)
|
rs116314622
|
0.00134
|
|
NM_000163.5(GHR):c.439+9C>T
|
rs138669138
|
0.00133
|
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
|
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)
|
rs76708715
|
0.00133
|
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
|
NM_000258.3(MYL3):c.81T>C (p.Pro27=)
|
rs147584015
|
0.00133
|
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
|
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu)
|
rs61735035
|
0.00133
|
|
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)
|
rs35006579
|
0.00133
|
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
|
NM_001458.5(FLNC):c.6005-9T>C
|
rs118124743
|
0.00133
|
|
NM_001999.4(FBN2):c.5675-12_5675-11insG
|
rs150372632
|
0.00133
|
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
|
NM_005732.4(RAD50):c.3165-4A>T
|
rs104895050
|
0.00133
|
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
|
NM_012452.3(TNFRSF13B):c.618C>T (p.Ala206=)
|
rs147846226
|
0.00133
|
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
|
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)
|
rs150602845
|
0.00132
|
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
|
NM_000552.5(VWF):c.6099C>T (p.Tyr2033=)
|
rs55784921
|
0.00132
|
|
NM_000552.5(VWF):c.6303C>A (p.Gly2101=)
|
rs115914543
|
0.00132
|
|
NM_001267550.2(TTN):c.36750G>A (p.Pro12250=)
|
rs777458053
|
0.00132
|
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
|
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)
|
rs143930021
|
0.00132
|
|
NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=)
|
rs149761943
|
0.00131
|
|
NM_000432.4(MYL2):c.279G>A (p.Ala93=)
|
rs28645088
|
0.00131
|
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
|
NM_001377540.1(SLMAP):c.2272A>T (p.Ser758Cys)
|
rs143689400
|
0.00131
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_015202.5(KATNIP):c.2051C>A (p.Ser684Tyr)
|
rs144244281
|
0.00131
|
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
|
NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn)
|
rs199777072
|
0.00130
|
|
NM_000186.4(CFH):c.2867C>T (p.Thr956Met)
|
rs145975787
|
0.00130
|
|
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys)
|
rs34841221
|
0.00130
|
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
|
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
|
rs56812642
|
0.00130
|
|
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met)
|
rs147772932
|
0.00130
|
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
|
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)
|
rs142823394
|
0.00130
|
|
NM_003036.4(SKI):c.1338C>T (p.Leu446=)
|
rs148632347
|
0.00130
|
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
|
NM_015141.4(GPD1L):c.659G>A (p.Arg220His)
|
rs72546648
|
0.00130
|
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
|
NM_024685.4(BBS10):c.1245T>C (p.His415=)
|
rs147241753
|
0.00130
|
|
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=)
|
rs151173863
|
0.00129
|
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr)
|
rs137922929
|
0.00129
|
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
|
NM_000529.2(MC2R):c.133G>A (p.Val45Ile)
|
rs148298654
|
0.00128
|
|
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=)
|
rs35724152
|
0.00128
|
|
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)
|
rs200897068
|
0.00128
|
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
|
NM_001369268.1(ACAN):c.2953A>G (p.Thr985Ala)
|
rs200194458
|
0.00128
|
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
|
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu)
|
rs74006838
|
0.00128
|
|
NM_005633.4(SOS1):c.213+16T>C
|
rs150536159
|
0.00128
|
|
NM_006270.5(RRAS):c.568G>C (p.Val190Leu)
|
rs2230917
|
0.00128
|
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
|
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln)
|
rs200586078
|
0.00127
|
|
NM_000631.5(NCF4):c.271+7G>A
|
rs201881905
|
0.00127
|
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
|
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=)
|
rs145035655
|
0.00127
|
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
|
NM_000492.4(CFTR):c.3139+18C>T
|
rs147945812
|
0.00126
|
|
NM_000532.5(PCCB):c.138G>C (p.Ala46=)
|
rs145075817
|
0.00126
|
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
|
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr)
|
rs200763256
|
0.00126
|
|
NM_152564.5(VPS13B):c.10824C>T (p.His3608=)
|
rs114818249
|
0.00126
|
|
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val)
|
rs149399707
|
0.00126
|
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
|
NM_000155.3(GALT):c.-179C>T
|
rs62557482
|
0.00125
|
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
|
NM_000552.5(VWF):c.546G>A (p.Ser182=)
|
rs143054357
|
0.00125
|
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
|
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln)
|
rs202113575
|
0.00125
|
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
|
NM_016363.5(GP6):c.172C>T (p.Arg58Cys)
|
rs199588110
|
0.00125
|
|
NM_053025.4(MYLK):c.4415+9A>G
|
rs187964526
|
0.00125
|
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
|
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)
|
rs6138
|
0.00124
|
|
NM_001267550.2(TTN):c.1398+16C>T
|
rs144043280
|
0.00124
|
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
|
NM_006393.3(NEBL):c.624C>T (p.Pro208=)
|
rs111854914
|
0.00124
|
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
|
NM_001267550.2(TTN):c.34453+12C>A
|
rs74930148
|
0.00123
|
|
NM_001386795.1(DTNA):c.604-14G>T
|
rs397517447
|
0.00123
|
|
NM_001388492.1(HTT):c.7332A>T (p.Glu2444Asp)
|
rs201702168
|
0.00123
|
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
|
NM_003239.5(TGFB3):c.744C>A (p.Ile248=)
|
rs45477900
|
0.00123
|
|
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn)
|
rs140344858
|
0.00123
|
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
|
NM_006514.4(SCN10A):c.-8A>T
|
rs200901459
|
0.00123
|
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
|
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys)
|
rs192221816
|
0.00123
|
|
NM_144670.6(A2ML1):c.2463+13G>C
|
rs151032368
|
0.00123
|
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
|
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)
|
rs145135349
|
0.00123
|
|
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)
|
rs371075036
|
0.00122
|
|
NM_005477.3(HCN4):c.546C>G (p.Pro182=)
|
rs571671463
|
0.00122
|
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
|
NM_006767.4(LZTR1):c.666C>T (p.Gly222=)
|
rs35767542
|
0.00122
|
|
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr)
|
rs72646509
|
0.00122
|
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
|
NM_003098.3(SNTA1):c.984C>T (p.Pro328=)
|
rs138863915
|
0.00121
|
|
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr)
|
rs145662569
|
0.00121
|
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00121
|
|
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg)
|
rs138124318
|
0.00121
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
|
NM_001999.4(FBN2):c.255-18C>A
|
rs200300875
|
0.00120
|
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
|
NM_002471.4(MYH6):c.*8T>C
|
rs201560522
|
0.00120
|
|
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=)
|
rs55807353
|
0.00120
|
|
NM_000093.5(COL5A1):c.-15C>A
|
rs587780907
|
0.00119
|
|
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)
|
rs138645044
|
0.00119
|
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
|
NM_016023.5(OTUD6B):c.-39A>G
|
rs199542428
|
0.00119
|
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
|
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys)
|
rs145771389
|
0.00118
|
|
NM_145046.5(CALR3):c.398-6T>C
|
rs376479901
|
0.00118
|
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
0.00117
|
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
|
NM_000527.5(LDLR):c.*19G>A
|
rs56270417
|
0.00117
|
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
|
NM_003184.4(TAF2):c.157A>G (p.Ile53Val)
|
rs112002462
|
0.00117
|
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
|
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu)
|
rs117304542
|
0.00117
|
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
|
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)
|
rs148612296
|
0.00117
|
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
|
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)
|
rs149460065
|
0.00116
|
|
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=)
|
rs76890940
|
0.00116
|
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
|
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp)
|
rs143832637
|
0.00116
|
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
|
NM_152783.5(D2HGDH):c.490+16C>T
|
rs375775579
|
0.00116
|
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
|
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu)
|
rs41313681
|
0.00115
|
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
|
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=)
|
rs72554029
|
0.00115
|
|
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)
|
rs188270459
|
0.00115
|
|
NM_020066.5(FMN2):c.2821G>A (p.Gly941Arg)
|
rs141094573
|
0.00115
|
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
|
NM_139276.3(STAT3):c.551-4G>A
|
rs80162032
|
0.00115
|
|
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys)
|
rs77141223
|
0.00115
|
|
NM_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00114
|
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
|
NM_001943.5(DSG2):c.2703A>G (p.Lys901=)
|
rs113591687
|
0.00114
|
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
|
NM_003664.5(AP3B1):c.375+11G>A
|
rs190638302
|
0.00114
|
|
NM_004333.6(BRAF):c.1433-19A>G
|
rs369635503
|
0.00114
|
|
NM_005559.4(LAMA1):c.3164G>A (p.Arg1055Gln)
|
rs150940045
|
0.00114
|
|
NM_033337.3(CAV3):c.*20G>A
|
rs137946394
|
0.00114
|
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
|
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)
|
rs200900510
|
0.00113
|
|
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)
|
rs201218828
|
0.00113
|
|
NM_001267550.2(TTN):c.33581-18T>C
|
rs148392677
|
0.00113
|
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
|
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)
|
rs139770404
|
0.00113
|
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
|
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)
|
rs142431229
|
0.00113
|
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
|
NM_144573.4(NEXN):c.1618A>G (p.Met540Val)
|
rs201390657
|
0.00113
|
|
NM_000044.6(AR):c.170T>A (p.Leu57Gln)
|
rs78686797
|
0.00112
|
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
|
NM_001163735.2(MYO19):c.1052T>A (p.Ile351Asn)
|
rs199978039
|
0.00112
|
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
|
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)
|
rs36222275
|
0.00112
|
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
|
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=)
|
rs145464740
|
0.00111
|
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
|
NM_000552.5(VWF):c.974G>T (p.Cys325Phe)
|
rs11837584
|
0.00111
|
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
|
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)
|
rs143035953
|
0.00111
|
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
|
NM_002474.3(MYH11):c.57C>T (p.Asn19=)
|
rs148464745
|
0.00111
|
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
|
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)
|
rs143189763
|
0.00111
|
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
|
NM_006270.5(RRAS):c.379C>T (p.Leu127=)
|
rs145907892
|
0.00111
|
|
NM_013975.4(LIG3):c.67C>T (p.Leu23=)
|
rs144307769
|
0.00111
|
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
|
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly)
|
rs11920433
|
0.00111
|
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
|
NM_001041.4(SI):c.5301G>A (p.Thr1767=)
|
rs150131334
|
0.00110
|
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
|
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
|
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)
|
rs45489199
|
0.00109
|
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
|
NM_002691.4(POLD1):c.33C>T (p.Pro11=)
|
rs3218768
|
0.00109
|
|
NM_003824.4(FADD):c.620C>T (p.Ala207Val)
|
rs146934620
|
0.00109
|
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
|
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr)
|
rs139646798
|
0.00109
|
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
|
NM_000016.6(ACADM):c.678A>G (p.Ala226=)
|
rs2229249
|
0.00108
|
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
|
NM_000336.3(SCNN1B):c.1152+10T>C
|
rs72654341
|
0.00108
|
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
|
NM_000552.5(VWF):c.7082-13G>C
|
rs71581025
|
0.00108
|
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
|
NM_003476.5(CSRP3):c.*12G>A
|
rs45607943
|
0.00108
|
|
NM_005585.5(SMAD6):c.909G>A (p.Thr303=)
|
rs139719094
|
0.00108
|
|
NM_006767.4(LZTR1):c.1395G>A (p.Ala465=)
|
rs142418387
|
0.00108
|
|
NM_015713.5(RRM2B):c.48+96G>C
|
rs200373694
|
0.00108
|
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
|
NM_020975.6(RET):c.1197G>A (p.Pro399=)
|
rs148371113
|
0.00108
|
|
NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
|
NM_001103.4(ACTN2):c.441G>A (p.Ser147=)
|
rs150182164
|
0.00107
|
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
|
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)
|
rs143049740
|
0.00107
|
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
|
NM_004646.4(NPHS1):c.3482-7A>T
|
rs73928326
|
0.00107
|
|
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu)
|
rs151014532
|
0.00107
|
|
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)
|
rs79530903
|
0.00107
|
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
|
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)
|
rs61495246
|
0.00107
|
|
NM_181507.2(HPS5):c.2562-14G>C
|
rs199999276
|
0.00107
|
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
|
NM_000093.5(COL5A1):c.924+13C>T
|
rs199836060
|
0.00106
|
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
0.00106
|
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
|
NM_000787.4(DBH):c.339+2T>C
|
rs74853476
|
0.00106
|
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
|
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
|
NM_002474.3(MYH11):c.291C>T (p.Asn97=)
|
rs113363750
|
0.00106
|
|
NM_006231.4(POLE):c.1323G>A (p.Pro441=)
|
rs116573514
|
0.00106
|
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
|
NM_139076.3(ABRAXAS1):c.-4T>C
|
rs202166386
|
0.00106
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
|
NM_000282.4(PCCA):c.300+3930C>T
|
rs767934206
|
0.00105
|
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
|
NM_001852.4(COL9A2):c.151-8T>C
|
rs144162904
|
0.00105
|
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
|
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)
|
rs199727625
|
0.00104
|
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
0.00104
|
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
|
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)
|
rs149091258
|
0.00104
|
|
NM_003476.5(CSRP3):c.162G>A (p.Ser54=)
|
rs112848043
|
0.00104
|
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
|
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)
|
rs144320036
|
0.00104
|
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
|
NM_000035.4(ALDOB):c.324+8C>G
|
rs118168553
|
0.00103
|
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
|
NM_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
|
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
|
rs143532979
|
0.00103
|
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
|
NM_005911.6(MAT2A):c.813T>C (p.Tyr271=)
|
rs149459768
|
0.00103
|
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
|
NM_018112.3(TMEM38B):c.803G>A (p.Gly268Glu)
|
rs148378635
|
0.00103
|
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
|
NM_021870.3(FGG):c.*500C>T
|
rs183036893
|
0.00103
|
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
|
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)
|
rs550949678
|
0.00102
|
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
|
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)
|
rs78215347
|
0.00101
|
|
NM_000163.5(GHR):c.1542T>G (p.Cys514Trp)
|
rs148945224
|
0.00101
|
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
|
NM_005502.4(ABCA1):c.6555T>G (p.Ser2185=)
|
rs146817777
|
0.00101
|
|
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)
|
rs80232004
|
0.00101
|
|
NM_006939.4(SOS2):c.858+9A>G
|
rs201701595
|
0.00101
|
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
|
NM_033118.4(MYLK2):c.102A>G (p.Lys34=)
|
rs28763880
|
0.00101
|
|
NM_144670.6(A2ML1):c.200A>T (p.Glu67Val)
|
rs190479708
|
0.00101
|
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00100
|
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
|
NM_001079.4(ZAP70):c.1737-3C>T
|
rs56249179
|
0.00100
|
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
|
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00100
|
|
NM_024334.3(TMEM43):c.392+16G>A
|
rs150859949
|
0.00100
|
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
|
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)
|
rs142307556
|
0.00100
|
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
|
NM_000270.4(PNP):c.653-4T>C
|
rs199866228
|
0.00099
|
|
NM_000518.5(HBB):c.316-70C>G
|
rs193922560
|
0.00099
|
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
|
NM_001206744.2(TPO):c.*54C>T
|
rs180847489
|
0.00099
|
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
|
NM_001267550.2(TTN):c.39296-13C>T
|
rs372380420
|
0.00099
|
|
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)
|
rs138846756
|
0.00099
|
|
NM_001363711.2(DUOX2):c.567C>T (p.His189=)
|
rs2467829
|
0.00099
|
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
|
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)
|
rs147210663
|
0.00098
|
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
|
NM_000552.5(VWF):c.5312-19A>C
|
rs200237834
|
0.00098
|
|
NM_001032283.3(TMPO):c.565+2224A>G
|
rs34983516
|
0.00098
|
|
NM_001103.4(ACTN2):c.126+14C>T
|
rs373269478
|
0.00098
|
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
|
NM_001256007.3(PNPLA8):c.830A>T (p.Asp277Val)
|
rs147828742
|
0.00098
|
|
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)
|
rs149919890
|
0.00098
|
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00098
|
|
NM_001369268.1(ACAN):c.5567G>A (p.Ser1856Asn)
|
rs200762388
|
0.00098
|
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
|
NM_003664.5(AP3B1):c.3132-22G>A
|
rs201198522
|
0.00098
|
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
|
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)
|
rs121965090
|
0.00098
|
|
NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe)
|
rs72646508
|
0.00098
|
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
|
NM_000038.6(APC):c.5790A>G (p.Gln1930=)
|
rs141152252
|
0.00097
|
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
|
NM_000077.5(CDKN2A):c.-2G>A
|
rs191394143
|
0.00097
|
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
|
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)
|
rs144122893
|
0.00097
|
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
|
NM_004004.6(GJB2):c.-174C>G
|
rs541058463
|
0.00097
|
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
|
NM_006514.4(SCN10A):c.5295G>A (p.Ser1765=)
|
rs145313578
|
0.00097
|
|
NM_006767.4(LZTR1):c.-11G>A
|
rs370616172
|
0.00097
|
|
NM_006767.4(LZTR1):c.1719C>T (p.Ser573=)
|
rs150897932
|
0.00097
|
|
NM_007373.4(SHOC2):c.*3T>C
|
rs143187497
|
0.00097
|
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00096
|
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00096
|
|
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
|
NM_000527.5(LDLR):c.828C>T (p.Cys276=)
|
rs146651743
|
0.00096
|
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
|
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)
|
rs200638007
|
0.00096
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
|
NM_001063.4(TF):c.1027C>T (p.Arg343Trp)
|
rs150854910
|
0.00096
|
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
|
NM_001084.5(PLOD3):c.1093G>A (p.Ala365Thr)
|
rs150873622
|
0.00096
|
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00096
|
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
|
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser)
|
rs145105421
|
0.00096
|
|
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=)
|
rs116741030
|
0.00096
|
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
|
NM_004304.5(ALK):c.2148C>T (p.Ser716=)
|
rs55733526
|
0.00096
|
|
NM_006939.4(SOS2):c.213+18A>T
|
rs143888968
|
0.00096
|
|
NM_007078.3(LDB3):c.1653C>T (p.Cys551=)
|
rs45581435
|
0.00096
|
|
NM_015311.3(OBSL1):c.2407+11A>G
|
rs62191613
|
0.00096
|
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
|
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr)
|
rs17882190
|
0.00095
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
|
NM_001103.4(ACTN2):c.1657-16T>C
|
rs148194175
|
0.00095
|
|
NM_001148.6(ANK2):c.5985G>A (p.Lys1995=)
|
rs116652427
|
0.00095
|
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
|
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=)
|
rs34083760
|
0.00095
|
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
|
NM_182961.4(SYNE1):c.581+18G>A
|
rs111309750
|
0.00095
|
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
|
NM_000548.5(TSC2):c.5161-9C>T
|
rs45515893
|
0.00094
|
|
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)
|
rs138452803
|
0.00094
|
|
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
|
rs121912706
|
0.00094
|
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
|
NM_001458.5(FLNC):c.6362-17C>G
|
rs368901431
|
0.00094
|
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
|
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)
|
rs61732021
|
0.00094
|
|
NM_006231.4(POLE):c.1347G>A (p.Thr449=)
|
rs142373951
|
0.00094
|
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
|
NM_000071.3(CBS):c.1223+12C>T
|
rs116578198
|
0.00093
|
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
|
NM_000159.4(GCDH):c.1011A>G (p.Ala337=)
|
rs2229460
|
0.00093
|
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
|
NM_000552.5(VWF):c.7150C>T (p.Arg2384Trp)
|
rs145697622
|
0.00093
|
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
|
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr)
|
rs112657320
|
0.00093
|
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
|
NM_013975.4(LIG3):c.1041+11C>T
|
rs116677517
|
0.00093
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
|
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn)
|
rs200100726
|
0.00093
|
|
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)
|
rs568391206
|
0.00093
|
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
|
NM_000038.6(APC):c.8043G>C (p.Pro2681=)
|
rs149347068
|
0.00092
|
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
|
NM_000243.3(MEFV):c.911-12G>A
|
rs372016564
|
0.00092
|
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
|
NM_001710.6(CFB):c.837C>G (p.Asp279Glu)
|
rs147564718
|
0.00092
|
|
NM_002471.4(MYH6):c.1083G>T (p.Gly361=)
|
rs138928022
|
0.00092
|
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
|
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val)
|
rs17025864
|
0.00092
|
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
|
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)
|
rs144780990
|
0.00092
|
|
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=)
|
rs141025897
|
0.00092
|
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
|
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val)
|
rs113124819
|
0.00092
|
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
|
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr)
|
rs12718465
|
0.00091
|
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
|
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)
|
rs200459002
|
0.00091
|
|
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)
|
rs147293964
|
0.00091
|
|
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)
|
rs186563991
|
0.00091
|
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00091
|
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
|
NM_003036.4(SKI):c.1851G>A (p.Glu617=)
|
rs146789646
|
0.00091
|
|
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)
|
rs111624565
|
0.00091
|
|
NM_022114.4(PRDM16):c.573+17A>G
|
rs370287328
|
0.00091
|
|
NM_139276.3(STAT3):c.1329C>T (p.Thr443=)
|
rs147955721
|
0.00091
|
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
|
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)
|
rs61732108
|
0.00090
|
|
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
|
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)
|
rs200170585
|
0.00090
|
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
|
NM_002230.4(JUP):c.567C>T (p.Val189=)
|
rs35297577
|
0.00090
|
|
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=)
|
rs144957142
|
0.00090
|
|
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)
|
rs137852684
|
0.00090
|
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
|
NM_006767.4(LZTR1):c.906G>A (p.Ala302=)
|
rs143128466
|
0.00090
|
|
NM_000064.4(C3):c.4369G>C (p.Asp1457His)
|
rs113742728
|
0.00089
|
|
NM_000174.5(GP9):c.368C>T (p.Pro123Leu)
|
rs202229101
|
0.00089
|
|
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser)
|
rs61746118
|
0.00089
|
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
|
NM_001110556.2(FLNA):c.1066-19C>T
|
rs369196285
|
0.00089
|
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
|
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=)
|
rs55845713
|
0.00089
|
|
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)
|
rs386833873
|
0.00089
|
|
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
|
rs139046510
|
0.00089
|
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
|
NM_000237.3(LPL):c.345A>C (p.Ser115=)
|
rs147309575
|
0.00088
|
|
NM_000433.4(NCF2):c.836C>T (p.Thr279Met)
|
rs13306581
|
0.00088
|
|
NM_000465.4(BARD1):c.90T>A (p.Gly30=)
|
rs150354152
|
0.00088
|
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
|
NM_001077653.2(TBX20):c.501C>T (p.Ser167=)
|
rs75947625
|
0.00088
|
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
|
NM_001365276.2(TNXB):c.7486G>A (p.Val2496Met)
|
rs182362312
|
0.00088
|
|
NM_001365999.1(SZT2):c.8427G>A (p.Glu2809=)
|
rs140309222
|
0.00088
|
|
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile)
|
rs150555123
|
0.00088
|
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
|
NM_002691.4(POLD1):c.2628C>T (p.Ile876=)
|
rs75874199
|
0.00088
|
|
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)
|
rs202065858
|
0.00088
|
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
|
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)
|
rs139788610
|
0.00087
|
|
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)
|
rs149616140
|
0.00087
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
|
NM_004970.3(IGFALS):c.1357C>G (p.Leu453Val)
|
rs149707428
|
0.00087
|
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
|
NM_000064.4(C3):c.4172+19G>A
|
rs181489450
|
0.00086
|
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
|
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)
|
rs1805156
|
0.00086
|
|
NM_000268.4(NF2):c.1386C>T (p.Arg462=)
|
rs138354622
|
0.00086
|
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
|
NM_000302.4(PLOD1):c.843+17G>C
|
rs201244598
|
0.00086
|
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
|
NM_001085049.3(MRAS):c.453G>A (p.Pro151=)
|
rs149904534
|
0.00086
|
|
NM_001110219.3(GJB6):c.607A>G (p.Met203Val)
|
rs200674715
|
0.00086
|
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
|
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)
|
rs368243641
|
0.00086
|
|
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val)
|
rs201277979
|
0.00086
|
|
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met)
|
rs201387092
|
0.00086
|
|
NM_006258.4(PRKG1):c.312-12C>G
|
rs371409852
|
0.00086
|
|
NM_006270.5(RRAS):c.573-12G>A
|
rs201690554
|
0.00086
|
|
NM_006506.5(RASA2):c.2514G>C (p.Gly838=)
|
rs114158487
|
0.00086
|
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
|
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His)
|
rs34813273
|
0.00086
|
|
NM_022081.6(HPS4):c.133-12C>T
|
rs199691721
|
0.00086
|
|
NM_078470.6(COX15):c.90+16G>A
|
rs369863209
|
0.00086
|
|
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)
|
rs146471967
|
0.00086
|
|
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)
|
rs148035648
|
0.00085
|
|
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)
|
rs75648145
|
0.00085
|
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
|
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe)
|
rs145589304
|
0.00085
|
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
|
NM_000552.5(VWF):c.1892C>T (p.Ala631Val)
|
rs199963222
|
0.00084
|
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
|
NM_001035.3(RYR2):c.231G>A (p.Ala77=)
|
rs376225470
|
0.00084
|
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
|
NM_174936.4(PCSK9):c.1929C>T (p.His643=)
|
rs145770391
|
0.00084
|
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
|
NM_000064.4(C3):c.4767G>A (p.Lys1589=)
|
rs144589541
|
0.00083
|
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
|
NM_000081.4(LYST):c.3507C>T (p.Leu1169=)
|
rs74861744
|
0.00083
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
|
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
|
rs140639753
|
0.00083
|
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
|
NM_001999.4(FBN2):c.3974-19T>C
|
rs112950479
|
0.00083
|
|
NM_002691.4(POLD1):c.612C>T (p.His204=)
|
rs147881471
|
0.00083
|
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
|
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)
|
rs137961578
|
0.00083
|
|
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg)
|
rs150101848
|
0.00083
|
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
|
NM_173477.5(USH1G):c.983G>T (p.Gly328Val)
|
rs137871047
|
0.00083
|
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
|
NM_000204.5(CFI):c.482+8C>T
|
rs371324158
|
0.00082
|
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
|
NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn)
|
rs1254121532
|
0.00082
|
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
|
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
|
rs145050210
|
0.00081
|
|
NM_000268.4(NF2):c.1416C>T (p.Leu472=)
|
rs148776784
|
0.00081
|
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
|
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn)
|
rs192098032
|
0.00081
|
|
NM_001267550.2(TTN):c.36701-16A>G
|
rs577899845
|
0.00081
|
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
|
NM_005502.4(ABCA1):c.720+6T>C
|
rs188308962
|
0.00081
|
|
NM_005751.5(AKAP9):c.1651A>G (p.Ile551Val)
|
rs140664656
|
0.00081
|
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
|
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)
|
rs193922096
|
0.00080
|
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
0.00080
|
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
|
NM_002471.4(MYH6):c.735+16C>T
|
rs76202841
|
0.00080
|
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
|
NM_005751.5(AKAP9):c.9127G>A (p.Ala3043Thr)
|
rs138390702
|
0.00080
|
|
NM_006231.4(POLE):c.3747G>A (p.Val1249=)
|
rs80290414
|
0.00080
|
|
NM_139076.3(ABRAXAS1):c.917T>C (p.Val306Ala)
|
rs138986552
|
0.00080
|
|
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala)
|
rs200618482
|
0.00080
|
|
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp)
|
rs200964353
|
0.00080
|
|
NM_181507.2(HPS5):c.109-10_109-9del
|
rs557184781
|
0.00080
|
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
|
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)
|
rs41314354
|
0.00079
|
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00079
|
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
|
NM_032495.6(HOPX):c.264C>T (p.Ser88=)
|
rs76751592
|
0.00079
|
|
NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr)
|
rs140764403
|
0.00079
|
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
|
NM_000110.4(DPYD):c.868A>G (p.Lys290Glu)
|
rs146356975
|
0.00078
|
|
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
|
rs144594695
|
0.00078
|
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
|
NM_000238.4(KCNH2):c.2145+16C>T
|
rs41314369
|
0.00078
|
|
NM_000257.4(MYH7):c.261C>T (p.Ile87=)
|
rs148560996
|
0.00078
|
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
|
NM_014875.3(KIF14):c.1753T>C (p.Phe585Leu)
|
rs201600249
|
0.00078
|
|
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)
|
rs172155862
|
0.00078
|
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
|
NM_053025.4(MYLK):c.373+18C>T
|
rs140559450
|
0.00078
|
|
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
|
rs138120505
|
0.00078
|
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
|
NM_001458.5(FLNC):c.7990+9C>T
|
rs566679569
|
0.00077
|
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
|
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
|
rs28763971
|
0.00077
|
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
|
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)
|
rs77460377
|
0.00077
|
|
NM_032387.5(WNK4):c.2157+6G>C
|
rs61755607
|
0.00077
|
|
NM_144670.6(A2ML1):c.2764+12C>G
|
rs372457078
|
0.00077
|
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
|
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)
|
rs200562865
|
0.00076
|
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
|
NM_000214.3(JAG1):c.1349-11T>G
|
rs80338240
|
0.00076
|
|
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)
|
rs150817714
|
0.00076
|
|
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)
|
rs145637617
|
0.00076
|
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
|
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr)
|
rs201098973
|
0.00076
|
|
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)
|
rs138753870
|
0.00076
|
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
|
NM_000371.4(TTR):c.*3_*11del
|
rs143948820
|
0.00076
|
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
|
NM_000432.4(MYL2):c.36C>T (p.Gly12=)
|
rs139794370
|
0.00076
|
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
|
NM_001110556.2(FLNA):c.720+12C>T
|
rs367894653
|
0.00076
|
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
|
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp)
|
rs201647307
|
0.00076
|
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
|
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=)
|
rs116854981
|
0.00076
|
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
|
NM_005188.4(CBL):c.2036+9G>T
|
rs142704935
|
0.00076
|
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
|
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr)
|
rs138714806
|
0.00076
|
|
NM_006506.5(RASA2):c.2215C>G (p.Pro739Ala)
|
rs201360260
|
0.00076
|
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
|
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)
|
rs140364657
|
0.00076
|
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
|
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys)
|
rs114260147
|
0.00075
|
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
|
NM_000138.5(FBN1):c.6998-33del
|
rs563973570
|
0.00075
|
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
|
NM_000387.6(SLC25A20):c.535+18C>T
|
rs182781221
|
0.00075
|
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
|
NM_000552.5(VWF):c.5384C>T (p.Ala1795Val)
|
rs146729537
|
0.00075
|
|
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)
|
rs190009374
|
0.00075
|
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
|
NM_014000.3(VCL):c.1348A>C (p.Arg450=)
|
rs142128712
|
0.00075
|
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
|
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)
|
rs141649383
|
0.00074
|
|
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met)
|
rs141103005
|
0.00074
|
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
|
NM_003280.3(TNNC1):c.201C>T (p.Asp67=)
|
rs150881554
|
0.00074
|
|
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn)
|
rs146288080
|
0.00074
|
|
NM_005188.4(CBL):c.1641T>C (p.Pro547=)
|
rs61755280
|
0.00074
|
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
|
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=)
|
rs112000802
|
0.00074
|
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00074
|
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
|
NM_000302.4(PLOD1):c.976-16C>T
|
rs142329815
|
0.00073
|
|
NM_000393.5(COL5A2):c.2931+11C>T
|
rs184002749
|
0.00073
|
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
|
NM_000552.5(VWF):c.2340C>G (p.Asn780Lys)
|
rs143904314
|
0.00073
|
|
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=)
|
rs139564374
|
0.00073
|
|
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=)
|
rs139103369
|
0.00073
|
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00073
|
|
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val)
|
rs138126912
|
0.00073
|
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
|
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu)
|
rs183760368
|
0.00073
|
|
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala)
|
rs147309177
|
0.00073
|
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
|
NM_001943.5(DSG2):c.216+16G>A
|
rs200239610
|
0.00073
|
|
NM_002755.4(MAP2K1):c.1069-16G>A
|
rs146942812
|
0.00073
|
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
|
NM_004947.5(DOCK3):c.5145+4C>T
|
rs138743227
|
0.00073
|
|
NM_013975.4(LIG3):c.2660C>T (p.Ser887Phe)
|
rs35501315
|
0.00073
|
|
NM_014908.4(DOLK):c.873C>T (p.Leu291=)
|
rs148646968
|
0.00073
|
|
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)
|
rs61751554
|
0.00073
|
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
|
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)
|
rs72556555
|
0.00073
|
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
|
NM_152594.3(SPRED1):c.207+15A>G
|
rs377288061
|
0.00073
|
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
|
NM_001371904.1(APOA5):c.165C>G (p.Thr55=)
|
rs138300114
|
0.00072
|
|
NM_001371904.1(APOA5):c.962A>T (p.His321Leu)
|
rs201201147
|
0.00072
|
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
|
NM_004100.5(EYA4):c.277+9G>A
|
rs145320803
|
0.00072
|
|
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly)
|
rs140365800
|
0.00072
|
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
|
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=)
|
rs148291450
|
0.00072
|
|
NM_144670.6(A2ML1):c.2234+16A>G
|
rs560345386
|
0.00072
|
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00071
|
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
|
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=)
|
rs377283955
|
0.00071
|
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
|
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met)
|
rs41299658
|
0.00071
|
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00071
|
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
|
NM_001164508.2(NEB):c.4720-18C>T
|
rs79402065
|
0.00071
|
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00071
|
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
|
NM_001267550.2(TTN):c.40786+15C>A
|
rs187582271
|
0.00071
|
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
|
NM_001267550.2(TTN):c.52406-16G>A
|
rs372221219
|
0.00071
|
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
|
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His)
|
rs137853902
|
0.00071
|
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
|
NM_006270.5(RRAS):c.453+20C>T
|
rs117957448
|
0.00071
|
|
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
|
rs148118523
|
0.00071
|
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
|
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=)
|
rs55669734
|
0.00071
|
|
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
|
rs552120721
|
0.00071
|
|
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00070
|
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
|
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)
|
rs114900922
|
0.00070
|
|
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)
|
rs118203543
|
0.00070
|
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
|
NM_000397.4(CYBB):c.46-7T>C
|
rs182039020
|
0.00070
|
|
NM_000451.4(SHOX):c.634-14G>T
|
rs759067813
|
0.00070
|
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
|
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=)
|
rs150671256
|
0.00070
|
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
|
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met)
|
rs141327098
|
0.00070
|
|
NM_005534.4(IFNGR2):c.879+19del
|
rs193922682
|
0.00070
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_015627.3(LDLRAP1):c.711G>A (p.Pro237=)
|
rs112914959
|
0.00070
|
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
|
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)
|
rs199911454
|
0.00070
|
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
|
NM_024529.5(CDC73):c.1032T>G (p.Val344=)
|
rs148612206
|
0.00070
|
|
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)
|
rs145934142
|
0.00070
|
|
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)
|
rs142307980
|
0.00070
|
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
|
NM_144670.6(A2ML1):c.2027G>A (p.Arg676Gln)
|
rs138301233
|
0.00070
|
|
NM_152594.3(SPRED1):c.939G>A (p.Thr313=)
|
rs140644874
|
0.00070
|
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00070
|
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
|
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)
|
rs199794705
|
0.00069
|
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
|
NM_006767.4(LZTR1):c.453C>T (p.Asp151=)
|
rs142421078
|
0.00069
|
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
|
NM_000071.3(CBS):c.636C>T (p.Asn212=)
|
rs2298758
|
0.00068
|
|
NM_000228.3(LAMB3):c.*19G>A
|
rs369211699
|
0.00068
|
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
|
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val)
|
rs79212994
|
0.00068
|
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
|
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)
|
rs141387097
|
0.00068
|
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
|
NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr)
|
rs201121030
|
0.00068
|
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
|
NM_004333.6(BRAF):c.1332G>A (p.Arg444=)
|
rs56101602
|
0.00068
|
|
NM_004937.3(CTNS):c.516C>T (p.Ala172=)
|
rs143405190
|
0.00068
|
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
|
NM_014875.3(KIF14):c.265G>A (p.Ala89Thr)
|
rs143156660
|
0.00068
|
|
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)
|
rs61733293
|
0.00068
|
|
NM_017617.5(NOTCH1):c.1669+15C>T
|
rs576849563
|
0.00068
|
|
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)
|
rs573577299
|
0.00068
|
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
|
NM_000520.5(HEXA):c.-768A>G
|
rs539186923
|
0.00067
|
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
|
NM_001148.6(ANK2):c.11459G>A (p.Arg3820Gln)
|
rs138085317
|
0.00067
|
|
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)
|
rs149168939
|
0.00067
|
|
NM_005430.4(WNT1):c.754G>C (p.Gly252Arg)
|
rs200151492
|
0.00067
|
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
|
NM_000093.5(COL5A1):c.252C>T (p.Ser84=)
|
rs151293601
|
0.00066
|
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
|
NM_000237.3(LPL):c.786G>A (p.Gln262=)
|
rs140986245
|
0.00066
|
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
|
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)
|
rs200484521
|
0.00066
|
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
|
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)
|
rs146426213
|
0.00066
|
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
|
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)
|
rs77416370
|
0.00066
|
|
NM_002615.7(SERPINF1):c.601G>A (p.Asp201Asn)
|
rs137997656
|
0.00066
|
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
|
NM_004333.6(BRAF):c.981-20C>T
|
rs374896031
|
0.00066
|
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
|
NM_007294.4(BRCA1):c.81-12C>G
|
rs80358055
|
0.00066
|
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
|
NM_000093.5(COL5A1):c.3115-14G>A
|
rs368945793
|
0.00065
|
|
NM_000306.4(POU1F1):c.605-5T>G
|
rs201406891
|
0.00065
|
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
|
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=)
|
rs186619828
|
0.00065
|
|
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp)
|
rs77994592
|
0.00065
|
|
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)
|
rs143163385
|
0.00065
|
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
|
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=)
|
rs186449817
|
0.00065
|
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
|
NM_001625.4(AK2):c.614G>A (p.Gly205Glu)
|
rs202182972
|
0.00065
|
|
NM_002474.3(MYH11):c.633+1942T>C
|
rs199755371
|
0.00065
|
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
|
NM_004484.4(GPC3):c.995A>G (p.Gln332Arg)
|
rs78696048
|
0.00065
|
|
NM_005666.4(CFHR2):c.760C>T (p.Arg254Ter)
|
rs41313888
|
0.00065
|
|
NM_005732.4(RAD50):c.671G>A (p.Arg224His)
|
rs28903088
|
0.00065
|
|
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val)
|
rs150379637
|
0.00065
|
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
|
NM_006506.5(RASA2):c.2163C>T (p.Asn721=)
|
rs144508155
|
0.00065
|
|
NM_006767.4(LZTR1):c.1353+8C>G
|
rs75959644
|
0.00065
|
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
|
NM_016343.4(CENPF):c.9158G>A (p.Arg3053Gln)
|
rs143976001
|
0.00065
|
|
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met)
|
rs144802156
|
0.00065
|
|
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)
|
rs201338158
|
0.00065
|
|
NM_024334.3(TMEM43):c.780+16A>G
|
rs146077457
|
0.00065
|
|
NM_030662.4(MAP2K2):c.1093-6T>C
|
rs369681843
|
0.00065
|
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
|
NM_000397.4(CYBB):c.338-13C>T
|
rs193922447
|
0.00064
|
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
|
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)
|
rs146911421
|
0.00064
|
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
|
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)
|
rs201252553
|
0.00064
|
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
|
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val)
|
rs201460658
|
0.00064
|
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
|
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)
|
rs143712699
|
0.00064
|
|
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)
|
rs138218277
|
0.00064
|
|
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)
|
rs571095192
|
0.00064
|
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
|
NM_015627.3(LDLRAP1):c.432C>T (p.His144=)
|
rs200840583
|
0.00064
|
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
|
NM_000054.7(AVPR2):c.913G>A (p.Ala305Thr)
|
rs145953185
|
0.00063
|
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00063
|
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
|
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val)
|
rs141211612
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=)
|
rs368930040
|
0.00063
|
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
|
NM_001086521.2(NDUFAF8):c.195+271C>T
|
rs745332456
|
0.00063
|
|
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)
|
rs149243307
|
0.00063
|
|
NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile)
|
rs116442272
|
0.00063
|
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
|
NM_001267550.2(TTN):c.6790+12C>T
|
rs200187117
|
0.00063
|
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
|
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His)
|
rs147642236
|
0.00063
|
|
NM_001458.5(FLNC):c.3621C>T (p.Asn1207=)
|
rs117864464
|
0.00063
|
|
NM_001999.4(FBN2):c.7841-16G>T
|
rs201231807
|
0.00063
|
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
|
NM_003098.3(SNTA1):c.497-7C>T
|
rs116972153
|
0.00063
|
|
NM_003995.4(NPR2):c.1351+10T>C
|
rs199798952
|
0.00063
|
|
NM_004304.5(ALK):c.932G>A (p.Arg311His)
|
rs150966028
|
0.00063
|
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
|
NM_006270.5(RRAS):c.243C>T (p.Ile81=)
|
rs116683551
|
0.00063
|
|
NM_006767.4(LZTR1):c.543G>A (p.Thr181=)
|
rs151294009
|
0.00063
|
|
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser)
|
rs200207651
|
0.00063
|
|
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=)
|
rs368750536
|
0.00063
|
|
NM_033087.4(ALG2):c.348+6G>A
|
rs368075764
|
0.00063
|
|
NM_144670.6(A2ML1):c.2243G>A (p.Gly748Glu)
|
rs74582459
|
0.00063
|
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
|
NM_000053.4(ATP7B):c.1543+13C>T
|
rs200171850
|
0.00062
|
|
NM_000321.3(RB1):c.1770T>C (p.Cys590=)
|
rs145310579
|
0.00062
|
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
|
NM_001195248.2(APTX):c.-5+1G>T
|
rs146487634
|
0.00062
|
|
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)
|
rs2234933
|
0.00062
|
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
|
NM_002485.5(NBN):c.441C>T (p.Cys147=)
|
rs137857529
|
0.00062
|
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
|
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly)
|
rs139825195
|
0.00062
|
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
|
NM_005732.4(RAD50):c.921A>G (p.Leu307=)
|
rs144639596
|
0.00062
|
|
NM_005911.6(MAT2A):c.-15C>T
|
rs202218397
|
0.00062
|
|
NM_013975.4(LIG3):c.670C>T (p.Arg224Trp)
|
rs3744356
|
0.00062
|
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
|
NM_020778.5(ALPK3):c.135C>T (p.Pro45=)
|
rs369591811
|
0.00062
|
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
|
NM_000091.5(COL4A3):c.2020+18A>C
|
rs374992426
|
0.00061
|
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
|
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_000310.4(PPT1):c.364A>T (p.Arg122Trp)
|
rs137852695
|
0.00061
|
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
|
NM_001089.3(ABCA3):c.385G>A (p.Val129Met)
|
rs137924161
|
0.00061
|
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
|
NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val)
|
rs368272173
|
0.00061
|
|
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val)
|
rs767058690
|
0.00061
|
|
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=)
|
rs28730859
|
0.00061
|
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
|
NM_003119.4(SPG7):c.1936+13G>A
|
rs147242721
|
0.00061
|
|
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)
|
rs143180998
|
0.00061
|
|
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)
|
rs140470576
|
0.00061
|
|
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)
|
rs150016098
|
0.00061
|
|
NM_006767.4(LZTR1):c.-6C>T
|
rs188063382
|
0.00061
|
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
|
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg)
|
rs555945363
|
0.00061
|
|
NM_006939.4(SOS2):c.621C>T (p.Ile207=)
|
rs147109760
|
0.00061
|
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
|
NM_013254.4(TBK1):c.1189+10G>A
|
rs185457813
|
0.00061
|
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
|
NM_024334.3(TMEM43):c.*16C>T
|
rs3796310
|
0.00061
|
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
|
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser)
|
rs201478459
|
0.00061
|
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
|
NM_000157.4(GBA1):c.1506-12C>T
|
rs368832292
|
0.00060
|
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
|
NM_000393.5(COL5A2):c.2770-5A>G
|
rs370313198
|
0.00060
|
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
|
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=)
|
rs147069572
|
0.00060
|
|
NM_001105206.3(LAMA4):c.196-15G>C
|
rs371906362
|
0.00060
|
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
|
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His)
|
rs200950723
|
0.00060
|
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
|
NM_003238.6(TGFB2):c.-5A>T
|
rs200702935
|
0.00060
|
|
NM_003355.3(UCP2):c.140G>A (p.Ser47Asn)
|
rs144018051
|
0.00060
|
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
|
NM_005502.4(ABCA1):c.99A>G (p.Leu33=)
|
rs141151519
|
0.00060
|
|
NM_006172.4(NPPA):c.352C>A (p.Leu118Met)
|
rs147081122
|
0.00060
|
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
|
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=)
|
rs2234467
|
0.00060
|
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
|
NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile)
|
rs188273166
|
0.00060
|
|
NM_024301.5(FKRP):c.636G>A (p.Ala212=)
|
rs370099812
|
0.00060
|
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00059
|
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
|
NM_000237.3(LPL):c.542-8C>T
|
rs201634558
|
0.00059
|
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
|
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)
|
rs17881903
|
0.00059
|
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
|
NM_001257096.2(PAX1):c.937G>A (p.Gly313Ser)
|
rs149840627
|
0.00059
|
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
|
NM_006412.4(AGPAT2):c.761C>T (p.Thr254Ile)
|
rs147616533
|
0.00059
|
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
|
NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=)
|
rs140896887
|
0.00059
|
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00058
|
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
|
NM_000518.5(HBB):c.316-37G>T
|
rs193922559
|
0.00058
|
|
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=)
|
rs183192651
|
0.00058
|
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
|
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met)
|
rs200765866
|
0.00058
|
|
NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)
|
rs190680846
|
0.00058
|
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_005141.5(FGB):c.115-12C>T
|
rs187641148
|
0.00058
|
|
NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr)
|
rs144372406
|
0.00058
|
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
|
NM_018897.3(DNAH7):c.5360A>G (p.Asp1787Gly)
|
rs374415212
|
0.00058
|
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
|
NM_025074.7(FRAS1):c.1982C>T (p.Ala661Val)
|
rs115496853
|
0.00058
|
|
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)
|
rs138435128
|
0.00058
|
|
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His)
|
rs61978626
|
0.00058
|
|
NR_003051.3(RMRP):n.-12A>C
|
rs372044910
|
0.00058
|
|
NM_000055.2(BCHE):c.812C>T (p.Thr271Met)
|
rs28933389
|
0.00057
|
|
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
|
NM_000157.4(GBA1):c.474C>T (p.Ile158=)
|
rs147411159
|
0.00057
|
|
NM_000158.4(GBE1):c.1237-18C>T
|
rs368966861
|
0.00057
|
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
|
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)
|
rs142516271
|
0.00057
|
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
|
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)
|
rs138758170
|
0.00057
|
|
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)
|
rs202085145
|
0.00057
|
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
|
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)
|
rs750693623
|
0.00057
|
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
|
NM_006270.5(RRAS):c.154-4C>G
|
rs372925843
|
0.00057
|
|
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val)
|
rs201214138
|
0.00057
|
|
NM_015141.4(GPD1L):c.619-9C>G
|
rs2044880
|
0.00057
|
|
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)
|
rs144817331
|
0.00057
|
|
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val)
|
rs144012972
|
0.00057
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
|
NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys)
|
rs146626238
|
0.00057
|
|
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)
|
rs184280124
|
0.00057
|
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
|
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)
|
rs144072210
|
0.00056
|
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
|
NM_001267550.2(TTN):c.32011+10C>G
|
rs192002980
|
0.00056
|
|
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)
|
rs143513466
|
0.00056
|
|
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
|
rs200242497
|
0.00056
|
|
NM_002474.3(MYH11):c.2520+8C>A
|
rs8063833
|
0.00056
|
|
NM_002474.3(MYH11):c.2649G>A (p.Ser883=)
|
rs150943863
|
0.00056
|
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
|
NM_005502.4(ABCA1):c.5636+18A>C
|
rs111671370
|
0.00056
|
|
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)
|
rs199654211
|
0.00056
|
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
|
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg)
|
rs115074675
|
0.00056
|
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
|
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr)
|
rs202179061
|
0.00056
|
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
|
NM_000257.4(MYH7):c.2163-16A>T
|
rs199538267
|
0.00055
|
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
|
NM_001164508.2(NEB):c.14869T>A (p.Tyr4957Asn)
|
rs756192566
|
0.00055
|
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
|
NM_002427.4(MMP13):c.190A>C (p.Met64Leu)
|
rs111947721
|
0.00055
|
|
NM_004281.4(BAG3):c.870C>G (p.Pro290=)
|
rs140737221
|
0.00055
|
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
|
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)
|
rs1021523079
|
0.00055
|
|
NM_005502.4(ABCA1):c.1055-7T>C
|
rs199586194
|
0.00055
|
|
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)
|
rs61757664
|
0.00055
|
|
NM_006270.5(RRAS):c.174C>T (p.Tyr58=)
|
rs145282813
|
0.00055
|
|
NM_006790.3(MYOT):c.1190+12A>G
|
rs183456886
|
0.00055
|
|
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln)
|
rs144971707
|
0.00055
|
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
|
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp)
|
rs141384205
|
0.00055
|
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
|
NM_000257.4(MYH7):c.3777C>T (p.His1259=)
|
rs149103761
|
0.00054
|
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
|
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)
|
rs201230446
|
0.00054
|
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
|
NM_001999.4(FBN2):c.4472-12T>A
|
rs551686237
|
0.00054
|
|
NM_002317.7(LOX):c.918G>A (p.Leu306=)
|
rs201494622
|
0.00054
|
|
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=)
|
rs140749690
|
0.00054
|
|
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)
|
rs138514914
|
0.00054
|
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
|
NM_004304.5(ALK):c.3939-8A>G
|
rs3738869
|
0.00054
|
|
NM_005502.4(ABCA1):c.2115+17C>T
|
rs371944946
|
0.00054
|
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
|
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr)
|
rs45539535
|
0.00054
|
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
|
NM_014875.3(KIF14):c.2096G>A (p.Arg699His)
|
rs147597734
|
0.00054
|
|
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=)
|
rs369497122
|
0.00054
|
|
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser)
|
rs727504512
|
0.00054
|
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
|
NM_030662.4(MAP2K2):c.303+8C>G
|
rs199612401
|
0.00054
|
|
NM_139276.3(STAT3):c.2281T>C (p.Leu761=)
|
rs142236792
|
0.00054
|
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
|
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
|
rs138810908
|
0.00054
|
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
|
NM_000064.4(C3):c.3490-10T>G
|
rs372843505
|
0.00053
|
|
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)
|
rs772106076
|
0.00053
|
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
|
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val)
|
rs200022550
|
0.00053
|
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
|
NM_001330.5(CTF1):c.280C>T (p.Leu94=)
|
rs397516648
|
0.00053
|
|
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys)
|
rs374073337
|
0.00053
|
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
|
NM_003664.5(AP3B1):c.3131+5G>T
|
rs191616060
|
0.00053
|
|
NM_004970.3(IGFALS):c.1478G>A (p.Arg493His)
|
rs200380381
|
0.00053
|
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
|
NM_006939.4(SOS2):c.700C>T (p.Leu234=)
|
rs145848231
|
0.00053
|
|
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu)
|
rs140218677
|
0.00053
|
|
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)
|
rs369346436
|
0.00053
|
|
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)
|
rs139994842
|
0.00053
|
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
|
NM_053025.4(MYLK):c.5166T>C (p.Asp1722=)
|
rs140870383
|
0.00053
|
|
NM_138694.4(PKHD1):c.1119-18C>G
|
rs367960459
|
0.00053
|
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
|
NM_000302.4(PLOD1):c.1584+17C>T
|
rs200962113
|
0.00052
|
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
|
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)
|
rs139066906
|
0.00052
|
|
NM_000719.7(CACNA1C):c.3156+17G>A
|
rs201709484
|
0.00052
|
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
|
NM_001128840.3(CACNA1D):c.2812-14G>T
|
rs369180125
|
0.00052
|
|
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)
|
rs149963885
|
0.00052
|
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
|
NM_004006.3(DMD):c.832-20C>T
|
rs201026834
|
0.00052
|
|
NM_006258.4(PRKG1):c.1963-16T>G
|
rs376174664
|
0.00052
|
|
NM_007373.4(SHOC2):c.1162-16T>G
|
rs376859485
|
0.00052
|
|
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)
|
rs148078248
|
0.00052
|
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
|
NM_000038.6(APC):c.3963C>T (p.Ser1321=)
|
rs150595875
|
0.00051
|
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
|
NM_000082.4(ERCC8):c.175A>T (p.Met59Leu)
|
rs140343389
|
0.00051
|
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
|
NM_000143.4(FH):c.77C>T (p.Pro26Leu)
|
rs187226800
|
0.00051
|
|
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)
|
rs147067171
|
0.00051
|
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
|
NM_000719.7(CACNA1C):c.5091+17C>T
|
rs375537358
|
0.00051
|
|
NM_001005242.3(PKP2):c.2168-6T>C
|
rs368531764
|
0.00051
|
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00051
|
|
NM_001103.4(ACTN2):c.927C>T (p.Pro309=)
|
rs145411160
|
0.00051
|
|
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=)
|
rs146085234
|
0.00051
|
|
NM_001148.6(ANK2):c.9923C>G (p.Thr3308Ser)
|
rs145145511
|
0.00051
|
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
|
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val)
|
rs143292359
|
0.00051
|
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
|
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)
|
rs77937237
|
0.00051
|
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
|
NM_002161.6(IARS1):c.2175G>A (p.Lys725=)
|
rs145346984
|
0.00051
|
|
NM_002382.5(MAX):c.*7C>T
|
rs199514174
|
0.00051
|
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
|
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val)
|
rs140990974
|
0.00051
|
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
|
NM_006270.5(RRAS):c.*4A>G
|
rs199675852
|
0.00051
|
|
NM_006767.4(LZTR1):c.2407-19C>T
|
rs151123840
|
0.00051
|
|
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe)
|
rs374403400
|
0.00051
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
|
NM_014000.3(VCL):c.2521G>C (p.Asp841His)
|
rs150385900
|
0.00051
|
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
|
NM_016373.4(WWOX):c.60G>C (p.Pro20=)
|
rs376165565
|
0.00051
|
|
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)
|
rs369167693
|
0.00051
|
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
|
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val)
|
rs137853911
|
0.00051
|
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
|
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)
|
rs144129296
|
0.00051
|
|
NM_144639.3(UROC1):c.1209C>T (p.Tyr403=)
|
rs147353570
|
0.00051
|
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
|
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)
|
rs117213221
|
0.00051
|
|
NM_173689.7(CRB2):c.755-12G>A
|
rs199716560
|
0.00051
|
|
NM_181507.2(HPS5):c.220-9G>C
|
rs200661298
|
0.00051
|
|
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val)
|
rs150952348
|
0.00051
|
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
|
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr)
|
rs148223181
|
0.00050
|
|
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter)
|
rs76353203
|
0.00050
|
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
|
NM_000465.4(BARD1):c.144G>A (p.Leu48=)
|
rs151168457
|
0.00050
|
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
|
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
|
rs2285895
|
0.00050
|
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
|
NM_002615.7(SERPINF1):c.1076G>A (p.Arg359Gln)
|
rs144198046
|
0.00050
|
|
NM_003239.5(TGFB3):c.517-16T>C
|
rs3917176
|
0.00050
|
|
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
|
rs7238500
|
0.00050
|
|
NM_005633.4(SOS1):c.345+12_345+13dup
|
rs397517167
|
0.00050
|
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
|
NM_015311.3(OBSL1):c.4060G>A (p.Val1354Met)
|
rs144083909
|
0.00050
|
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
|
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn)
|
rs77601278
|
0.00050
|
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
|
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp)
|
rs200562975
|
0.00049
|
|
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)
|
rs140019543
|
0.00049
|
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
|
NM_000257.4(MYH7):c.2907C>T (p.His969=)
|
rs142573531
|
0.00049
|
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
|
NM_001037.5(SCN1B):c.448+112G>A
|
rs72558026
|
0.00049
|
|
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys)
|
rs149039053
|
0.00049
|
|
NM_001148.6(ANK2):c.231G>A (p.Val77=)
|
rs149699185
|
0.00049
|
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
|
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)
|
rs200345491
|
0.00049
|
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
|
NM_002230.4(JUP):c.297G>A (p.Ser99=)
|
rs200976464
|
0.00049
|
|
NM_002317.7(LOX):c.388T>C (p.Ser130Pro)
|
rs139035462
|
0.00049
|
|
NM_005633.4(SOS1):c.1203-13T>A
|
rs145166996
|
0.00049
|
|
NM_006767.4(LZTR1):c.652-10C>A
|
rs200169897
|
0.00049
|
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
|
NM_020297.4(ABCC9):c.4512+16C>T
|
rs376147813
|
0.00049
|
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
|
NM_174936.4(PCSK9):c.657+7A>C
|
rs72646506
|
0.00049
|
|
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)
|
rs147977741
|
0.00049
|
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
|
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00048
|
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
|
NM_000258.3(MYL3):c.482-14C>A
|
rs201780962
|
0.00048
|
|
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=)
|
rs139123130
|
0.00048
|
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
|
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
|
rs61749376
|
0.00048
|
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
|
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)
|
rs145835705
|
0.00048
|
|
NM_001370259.2(MEN1):c.1049+9C>T
|
rs200517349
|
0.00048
|
|
NM_001377299.1(NDUFS2):c.1276G>T (p.Ala426Ser)
|
rs186476170
|
0.00048
|
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
|
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)
|
rs117517372
|
0.00048
|
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
|
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)
|
rs139330366
|
0.00048
|
|
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)
|
rs140547520
|
0.00048
|
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
|
NM_005199.5(CHRNG):c.459dup (p.Val154fs)
|
rs774279192
|
0.00048
|
|
NM_006502.3(POLH):c.1433C>T (p.Thr478Met)
|
rs9296419
|
0.00048
|
|
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr)
|
rs71653622
|
0.00048
|
|
NM_015274.3(MAN2B2):c.1766T>C (p.Ile589Thr)
|
rs148488843
|
0.00048
|
|
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly)
|
rs142818468
|
0.00048
|
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
|
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr)
|
rs143010767
|
0.00048
|
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
|
NM_144670.6(A2ML1):c.2029-8C>T
|
rs7298954
|
0.00048
|
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
|
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=)
|
rs147599496
|
0.00048
|
|
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)
|
rs67608943
|
0.00048
|
|
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=)
|
rs1799968
|
0.00047
|
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
|
NM_000478.6(ALPL):c.744C>T (p.Asp248=)
|
rs188689330
|
0.00047
|
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00047
|
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
|
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
|
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)
|
rs137852682
|
0.00047
|
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
|
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile)
|
rs185181365
|
0.00047
|
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
|
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser)
|
rs199610919
|
0.00046
|
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
|
NM_000136.3(FANCC):c.1533+50G>A
|
rs4647544
|
0.00046
|
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
|
NM_000335.5(SCN5A):c.3663+10T>C
|
rs200656652
|
0.00046
|
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
|
NM_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
|
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg)
|
rs142163070
|
0.00046
|
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
|
NM_000545.8(HNF1A):c.1502-7C>T
|
rs193922581
|
0.00046
|
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
|
NM_001082971.2(DDC):c.435+6G>T
|
rs373041067
|
0.00046
|
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
|
NM_001110792.2(MECP2):c.855G>T (p.Gly285=)
|
rs61750245
|
0.00046
|
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
|
NM_001643.2(APOA2):c.121G>A (p.Val41Met)
|
rs142522492
|
0.00046
|
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
|
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=)
|
rs201483538
|
0.00046
|
|
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)
|
rs200709879
|
0.00046
|
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
|
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=)
|
rs200573256
|
0.00046
|
|
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=)
|
rs144726669
|
0.00046
|
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
|
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)
|
rs200062851
|
0.00046
|
|
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)
|
rs111961549
|
0.00046
|
|
NM_006939.4(SOS2):c.346-10C>G
|
rs146395803
|
0.00046
|
|
NM_012114.3(CASP14):c.719A>T (p.Tyr240Phe)
|
rs141111994
|
0.00046
|
|
NM_020433.5(JPH2):c.1137C>A (p.Ile379=)
|
rs143158930
|
0.00046
|
|
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)
|
rs149907931
|
0.00046
|
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
|
NM_025233.7(COASY):c.247G>T (p.Val83Phe)
|
rs115817227
|
0.00046
|
|
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)
|
rs145431028
|
0.00046
|
|
NM_133259.4(LRPPRC):c.2211-14G>A
|
rs375399789
|
0.00046
|
|
NM_144670.6(A2ML1):c.105C>T (p.Ser35=)
|
rs201185025
|
0.00046
|
|
NM_174936.4(PCSK9):c.1504-7C>T
|
rs72646520
|
0.00046
|
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
|
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr)
|
rs56157628
|
0.00045
|
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
|
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=)
|
rs111683983
|
0.00045
|
|
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg)
|
rs73831831
|
0.00045
|
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
|
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)
|
rs565765056
|
0.00045
|
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
|
NM_001098671.2(RASGRP2):c.371+7G>T
|
rs181901181
|
0.00045
|
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
|
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)
|
rs55677134
|
0.00045
|
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
|
NM_002471.4(MYH6):c.1141+8G>T
|
rs377327277
|
0.00045
|
|
NM_002471.4(MYH6):c.531-19T>A
|
rs374174532
|
0.00045
|
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
|
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp)
|
rs144759014
|
0.00045
|
|
NM_006904.7(PRKDC):c.399+15A>G
|
rs370171329
|
0.00045
|
|
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala)
|
rs150752193
|
0.00045
|
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
|
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)
|
rs140946753
|
0.00045
|
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
|
NM_020821.3(VPS13C):c.1102A>G (p.Thr368Ala)
|
rs150098264
|
0.00045
|
|
NM_033026.6(PCLO):c.311G>A (p.Arg104His)
|
rs201699382
|
0.00045
|
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
|
NM_144573.4(NEXN):c.732C>A (p.Pro244=)
|
rs201171783
|
0.00045
|
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
|
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)
|
rs138407155
|
0.00044
|
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
|
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00044
|
|
NM_000249.4(MLH1):c.1410-10T>G
|
rs372053184
|
0.00044
|
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
|
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)
|
rs140566426
|
0.00044
|
|
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=)
|
rs142646329
|
0.00044
|
|
NM_000552.5(VWF):c.4146G>T (p.Leu1382=)
|
rs140464171
|
0.00044
|
|
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)
|
rs146494724
|
0.00044
|
|
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)
|
rs72646501
|
0.00044
|
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
|
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His)
|
rs139146419
|
0.00044
|
|
NM_001166114.2(PNPLA6):c.3914-8G>A
|
rs374861157
|
0.00044
|
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
|
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
|
rs11540674
|
0.00044
|
|
NM_001999.4(FBN2):c.5675-8dup
|
rs767398234
|
0.00044
|
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
|
NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val)
|
rs149244653
|
0.00044
|
|
NM_005751.5(AKAP9):c.883A>G (p.Thr295Ala)
|
rs149825027
|
0.00044
|
|
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=)
|
rs145303406
|
0.00044
|
|
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val)
|
rs147630977
|
0.00044
|
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
|
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu)
|
rs150505248
|
0.00044
|
|
NM_024334.3(TMEM43):c.279C>T (p.Gly93=)
|
rs149883381
|
0.00044
|
|
NM_030777.4(SLC2A10):c.1548-19C>T
|
rs144623242
|
0.00044
|
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
|
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
|
rs184770596
|
0.00044
|
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
|
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=)
|
rs200462659
|
0.00044
|
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
|
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)
|
rs147070644
|
0.00044
|
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
|
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)
|
rs192833530
|
0.00043
|
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
|
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)
|
rs200162906
|
0.00043
|
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00043
|
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
|
NM_001035.3(RYR2):c.1053A>G (p.Thr351=)
|
rs187565743
|
0.00043
|
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
|
NM_001037.5(SCN1B):c.448+314C>A
|
rs373295182
|
0.00043
|
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
|
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)
|
rs141660796
|
0.00043
|
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
|
NM_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
|
NM_001267550.2(TTN):c.44014+19G>C
|
rs139264089
|
0.00043
|
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
|
NM_004304.5(ALK):c.3057C>A (p.Val1019=)
|
rs138406372
|
0.00043
|
|
NM_004333.6(BRAF):c.2127+3A>G
|
rs371976102
|
0.00043
|
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
|
NM_006412.4(AGPAT2):c.589-2A>G
|
rs116807569
|
0.00043
|
|
NM_006506.5(RASA2):c.37T>G (p.Ser13Ala)
|
rs747843653
|
0.00043
|
|
NM_006767.4(LZTR1):c.855C>T (p.Tyr285=)
|
rs140612093
|
0.00043
|
|
NM_015202.5(KATNIP):c.4387G>A (p.Asp1463Asn)
|
rs146850516
|
0.00043
|
|
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)
|
rs199644216
|
0.00043
|
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
|
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)
|
rs150363383
|
0.00043
|
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
|
NM_139076.3(ABRAXAS1):c.680A>C (p.Lys227Thr)
|
rs149091407
|
0.00043
|
|
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
|
NM_000048.4(ASL):c.392C>T (p.Thr131Met)
|
rs143793815
|
0.00042
|
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00042
|
|
NM_000133.4(F9):c.8G>A (p.Arg3His)
|
rs148060786
|
0.00042
|
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
|
NM_000157.4(GBA1):c.546G>A (p.Gln182=)
|
rs545391048
|
0.00042
|
|
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)
|
rs373425206
|
0.00042
|
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
|
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
|
rs75429891
|
0.00042
|
|
NM_000218.3(KCNQ1):c.105C>A (p.Pro35=)
|
rs968695655
|
0.00042
|
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
|
NM_000552.5(VWF):c.1107C>G (p.Thr369=)
|
rs149640698
|
0.00042
|
|
NM_000719.7(CACNA1C):c.966C>T (p.His322=)
|
rs112539787
|
0.00042
|
|
NM_001061.7(TBXAS1):c.263T>C (p.Ile88Thr)
|
rs184269562
|
0.00042
|
|
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
|
rs28937590
|
0.00042
|
|
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)
|
rs138262189
|
0.00042
|
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
|
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)
|
rs146781484
|
0.00042
|
|
NM_002294.3(LAMP2):c.*15T>C
|
rs376806600
|
0.00042
|
|
NM_004360.5(CDH1):c.1138-3C>T
|
rs36103202
|
0.00042
|
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
|
NM_006939.4(SOS2):c.2162-10C>T
|
rs375702667
|
0.00042
|
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
|
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr)
|
rs184575465
|
0.00042
|
|
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)
|
rs201692618
|
0.00042
|
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
|
NR_003051.4(RMRP):n.141A>G
|
rs578091934
|
0.00042
|
|
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn)
|
rs111253965
|
0.00041
|
|
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met)
|
rs192957846
|
0.00041
|
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
|
NM_000093.5(COL5A1):c.2089-9C>T
|
rs181246690
|
0.00041
|
|
NM_000093.5(COL5A1):c.924+14G>A
|
rs200595318
|
0.00041
|
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
|
NM_000144.5(FXN):c.118C>T (p.Arg40Cys)
|
rs145854903
|
0.00041
|
|
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)
|
rs73312829
|
0.00041
|
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
|
NM_000271.5(NPC1):c.1553+18A>G
|
rs373017634
|
0.00041
|
|
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)
|
rs201406712
|
0.00041
|
|
NM_000383.4(AIRE):c.1437G>A (p.Val479=)
|
rs181029582
|
0.00041
|
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
|
NM_000518.4(HBB):c.-51T>C
|
rs386134236
|
0.00041
|
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
|
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr)
|
rs142779141
|
0.00041
|
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
|
NM_001035.3(RYR2):c.273+18G>A
|
rs371912039
|
0.00041
|
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
|
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)
|
rs61750248
|
0.00041
|
|
NM_001267550.2(TTN):c.30433+11T>G
|
rs199848546
|
0.00041
|
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
|
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln)
|
rs138822116
|
0.00041
|
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
|
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu)
|
rs80214209
|
0.00041
|
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
|
NM_003322.6(TULP1):c.1495C>T (p.Pro499Ser)
|
rs138772407
|
0.00041
|
|
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)
|
rs36074916
|
0.00041
|
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
|
NM_005677.4(COLQ):c.1074+4C>T
|
rs201227079
|
0.00041
|
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
|
NM_006939.4(SOS2):c.2317G>C (p.Asp773His)
|
rs114711076
|
0.00041
|
|
NM_006939.4(SOS2):c.2959-20T>C
|
rs375042033
|
0.00041
|
|
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys)
|
rs138133010
|
0.00041
|
|
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro)
|
rs146802994
|
0.00041
|
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
|
NM_014704.4(CEP104):c.2621G>A (p.Arg874His)
|
rs139076247
|
0.00041
|
|
NM_014875.3(KIF14):c.1017A>T (p.Glu339Asp)
|
rs140036867
|
0.00041
|
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
|
NM_020297.4(ABCC9):c.2862C>T (p.Asp954=)
|
rs2291550
|
0.00041
|
|
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)
|
rs200167919
|
0.00041
|
|
NM_024334.3(TMEM43):c.45C>A (p.Val15=)
|
rs150334659
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
|
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)
|
rs142779872
|
0.00041
|
|
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=)
|
rs200269317
|
0.00041
|
|
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His)
|
rs200744656
|
0.00041
|
|
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)
|
rs200228117
|
0.00041
|
|
NM_000059.4(BRCA2):c.6842-20T>A
|
rs81002811
|
0.00040
|
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
|
NM_000238.4(KCNH2):c.2965+14C>T
|
rs201706355
|
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_000370.3(TTPA):c.452G>A (p.Arg151Gln)
|
rs150710403
|
0.00040
|
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
|
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
|
rs149126953
|
0.00040
|
|
NM_000527.5(LDLR):c.694+9G>A
|
rs34093283
|
0.00040
|
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00040
|
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
|
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788
|
0.00040
|
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
|
NM_053025.4(MYLK):c.3653-10_3653-8del
|
rs576620371
|
0.00040
|
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
|
NM_145046.5(CALR3):c.398-4G>A
|
rs374008030
|
0.00040
|
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
|
NM_000091.5(COL4A3):c.-10C>T
|
rs781380101
|
0.00039
|
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
|
NM_000214.3(JAG1):c.894T>C (p.Asn298=)
|
rs149897344
|
0.00039
|
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
|
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)
|
rs148052192
|
0.00039
|
|
NM_000465.4(BARD1):c.348T>C (p.His116=)
|
rs139934362
|
0.00039
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insG
|
rs4148705
|
0.00039
|
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
|
NM_000518.5(HBB):c.316-96G>C
|
rs193922561
|
0.00039
|
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00039
|
|
NM_001102469.2(LIPN):c.599G>A (p.Gly200Asp)
|
rs201108850
|
0.00039
|
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
|
NM_001267550.2(TTN):c.32197+11G>A
|
rs369265969
|
0.00039
|
|
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala)
|
rs201909863
|
0.00039
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
|
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)
|
rs116974302
|
0.00039
|
|
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu)
|
rs201475647
|
0.00039
|
|
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)
|
rs28383480
|
0.00039
|
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
|
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)
|
rs17879258
|
0.00039
|
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
|
NM_005188.4(CBL):c.1564-13C>T
|
rs117902985
|
0.00039
|
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
|
NM_005902.4(SMAD3):c.66G>A (p.Glu22=)
|
rs187952791
|
0.00039
|
|
NM_006506.5(RASA2):c.540C>T (p.Cys180=)
|
rs148503095
|
0.00039
|
|
NM_006767.4(LZTR1):c.2208C>T (p.Pro736=)
|
rs140879560
|
0.00039
|
|
NM_013975.4(LIG3):c.2701G>A (p.Ala901Thr)
|
rs139474938
|
0.00039
|
|
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly)
|
rs145292760
|
0.00039
|
|
NM_017617.5(NOTCH1):c.3326-11A>C
|
rs377648586
|
0.00039
|
|
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)
|
rs61755043
|
0.00039
|
|
NM_017668.3(NDE1):c.948-6833A>G
|
rs111858392
|
0.00039
|
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
|
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=)
|
rs76102634
|
0.00039
|
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
|
NM_020778.5(ALPK3):c.3966-14T>C
|
rs145646854
|
0.00039
|
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
|
NM_020975.6(RET):c.2037C>T (p.Pro679=)
|
rs55862116
|
0.00039
|
|
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)
|
rs201201843
|
0.00039
|
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
|
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile)
|
rs373276045
|
0.00039
|
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
|
NM_201596.3(CACNB2):c.1054+18G>A
|
rs192538011
|
0.00039
|
|
NR_003051.4(RMRP):n.177G>A
|
rs377566038
|
0.00039
|
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
|
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)
|
rs200863613
|
0.00038
|
|
NM_000093.5(COL5A1):c.3690+6T>A
|
rs375998368
|
0.00038
|
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
|
NM_000391.4(TPP1):c.688-18C>T
|
rs376868997
|
0.00038
|
|
NM_000393.5(COL5A2):c.745-13G>A
|
rs145442880
|
0.00038
|
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
|
NM_000512.5(GALNS):c.252G>A (p.Ala84=)
|
rs377250967
|
0.00038
|
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
|
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg)
|
rs76459136
|
0.00038
|
|
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val)
|
rs147512481
|
0.00038
|
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
|
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)
|
rs149871856
|
0.00038
|
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
0.00038
|
|
NM_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
|
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp)
|
rs200264407
|
0.00038
|
|
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln)
|
rs148001159
|
0.00038
|
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
|
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp)
|
rs114613744
|
0.00038
|
|
NM_004132.5(HABP2):c.207C>T (p.Tyr69=)
|
rs139478887
|
0.00038
|
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
|
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=)
|
rs371065166
|
0.00038
|
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
|
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)
|
rs61751550
|
0.00038
|
|
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=)
|
rs150096625
|
0.00038
|
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
|
NM_032551.5(KISS1R):c.1167C>A (p.Cys389Ter)
|
rs371771794
|
0.00038
|
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
|
NM_144670.6(A2ML1):c.1780G>A (p.Val594Met)
|
rs201527641
|
0.00038
|
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
|
NM_000075.4(CDK4):c.764G>A (p.Arg255His)
|
rs144657355
|
0.00037
|
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
|
NM_000525.4(KCNJ11):c.37G>A (p.Val13Met)
|
rs139079635
|
0.00037
|
|
NM_000536.4(RAG2):c.477C>T (p.Arg159=)
|
rs141659100
|
0.00037
|
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
|
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)
|
rs201976061
|
0.00037
|
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr)
|
rs34479952
|
0.00037
|
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00037
|
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
|
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu)
|
rs747464249
|
0.00037
|
|
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr)
|
rs193922686
|
0.00037
|
|
NM_020297.4(ABCC9):c.407-13T>C
|
rs199717786
|
0.00037
|
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
|
NM_033118.4(MYLK2):c.783G>A (p.Pro261=)
|
rs144621796
|
0.00037
|
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
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_000301.5(PLG):c.1858G>A (p.Ala620Thr)
|
rs121918027
|
0.00036
|
|
NM_000344.4(SMN1):c.835-8C>A
|
rs200146682
|
0.00036
|
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
|
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln)
|
rs182208896
|
0.00036
|
|
NM_001103.4(ACTN2):c.1975-12C>T
|
rs371352710
|
0.00036
|
|
NM_001126049.2(KLLN):c.-840G>A
|
rs563841270
|
0.00036
|
|
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)
|
rs144548535
|
0.00036
|
|
NM_001267550.2(TTN):c.64654A>G (p.Ile21552Val)
|
rs201247592
|
0.00036
|
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
|
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
|
rs78437817
|
0.00036
|
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
|
NM_002709.3(PPP1CB):c.520+7T>C
|
rs200836202
|
0.00036
|
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
|
NM_004006.3(DMD):c.3163-18T>C
|
rs72468662
|
0.00036
|
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
|
NM_005751.5(AKAP9):c.456C>A (p.Asp152Glu)
|
rs138567837
|
0.00036
|
|
NM_006767.4(LZTR1):c.2511C>T (p.Gly837=)
|
rs202072955
|
0.00036
|
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu)
|
rs149897775
|
0.00036
|
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
|
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu)
|
rs377740271
|
0.00036
|
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
|
NM_024426.6(WT1):c.216G>T (p.Gln72His)
|
rs5030135
|
0.00036
|
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
|
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=)
|
rs138423692
|
0.00036
|
|
NM_139076.3(ABRAXAS1):c.33G>C (p.Ser11=)
|
rs368088450
|
0.00036
|
|
NM_144670.6(A2ML1):c.357G>C (p.Gly119=)
|
rs200671971
|
0.00036
|
|
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=)
|
rs371033800
|
0.00036
|
|
NM_144670.6(A2ML1):c.63-4A>G
|
rs200007710
|
0.00036
|
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
|
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)
|
rs201820739
|
0.00035
|
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
|
NM_000376.3(VDR):c.1016T>C (p.Val339Ala)
|
rs187843998
|
0.00035
|
|
NM_000383.4(AIRE):c.521G>A (p.Arg174His)
|
rs145732243
|
0.00035
|
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
|
NM_000719.7(CACNA1C):c.1390+11G>A
|
rs376570105
|
0.00035
|
|
NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter)
|
rs61753344
|
0.00035
|
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
|
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser)
|
rs139154852
|
0.00035
|
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
|
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)
|
rs373713957
|
0.00035
|
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
|
NM_033118.4(MYLK2):c.549C>T (p.His183=)
|
rs3746597
|
0.00035
|
|
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp)
|
rs143258617
|
0.00035
|
|
NM_175914.5(HNF4A):c.826+30dup
|
rs193922478
|
0.00035
|
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
|
NM_000053.4(ATP7B):c.2448-11G>A
|
rs200450017
|
0.00034
|
|
NM_000057.4(BLM):c.780T>C (p.Thr260=)
|
rs55763079
|
0.00034
|
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
|
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)
|
rs149959668
|
0.00034
|
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
|
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=)
|
rs139468110
|
0.00034
|
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
|
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)
|
rs376826051
|
0.00034
|
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
|
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys)
|
rs377473366
|
0.00034
|
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
|
NM_001142800.2(EYS):c.3568+5T>C
|
rs539477235
|
0.00034
|
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00034
|
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
|
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=)
|
rs114687298
|
0.00034
|
|
NM_001378789.1(CERS3):c.1102G>A (p.Gly368Ser)
|
rs137899535
|
0.00034
|
|
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn)
|
rs143014431
|
0.00034
|
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
|
NM_002734.5(PRKAR1A):c.550-8C>T
|
rs375936679
|
0.00034
|
|
NM_002769.5(PRSS1):c.121C>T (p.Leu41=)
|
rs369646357
|
0.00034
|
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
|
NM_004092.4(ECHS1):c.519G>A (p.Ala173=)
|
rs140262395
|
0.00034
|
|
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)
|
rs143757415
|
0.00034
|
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
|
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn)
|
rs200387871
|
0.00034
|
|
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)
|
rs142692907
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
|
NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp)
|
rs199852825
|
0.00034
|
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_016343.4(CENPF):c.6668A>G (p.Gln2223Arg)
|
rs150277836
|
0.00034
|
|
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)
|
rs559917218
|
0.00034
|
|
NM_017668.3(NDE1):c.948-2788A>G
|
rs118072250
|
0.00034
|
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
|
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)
|
rs201845154
|
0.00034
|
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
|
NM_020365.5(EIF2B3):c.979C>T (p.Pro327Ser)
|
rs146286158
|
0.00034
|
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
|
NM_021942.6(TRAPPC11):c.2851+5G>A
|
rs373713956
|
0.00034
|
|
NM_022114.4(PRDM16):c.1566G>T (p.Leu522Phe)
|
rs554705536
|
0.00034
|
|
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)
|
rs146618055
|
0.00034
|
|
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu)
|
rs200371894
|
0.00034
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
|
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)
|
rs138223055
|
0.00034
|
|
NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser)
|
rs141992236
|
0.00034
|
|
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00034
|
|
NM_000038.6(APC):c.5027G>C (p.Arg1676Thr)
|
rs143674116
|
0.00033
|
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
|
NM_000268.4(NF2):c.1113C>T (p.Asn371=)
|
rs142459414
|
0.00033
|
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
|
NM_000380.4(XPA):c.682C>T (p.Arg228Ter)
|
rs104894132
|
0.00033
|
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
|
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)
|
rs104894658
|
0.00033
|
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
|
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser)
|
rs55856189
|
0.00033
|
|
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)
|
rs72554080
|
0.00033
|
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
|
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603
|
0.00033
|
|
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)
|
rs201790260
|
0.00033
|
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
|
NM_001278293.3(ARL6):c.481G>T (p.Ala161Ser)
|
rs567825969
|
0.00033
|
|
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)
|
rs146195955
|
0.00033
|
|
NM_001379200.1(TBX1):c.540-16C>T
|
rs200786105
|
0.00033
|
|
NM_002474.3(MYH11):c.1989G>A (p.Lys663=)
|
rs138581000
|
0.00033
|
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
|
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)
|
rs140487104
|
0.00033
|
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
|
NM_006231.4(POLE):c.6714C>T (p.Cys2238=)
|
rs200082120
|
0.00033
|
|
NM_007373.4(SHOC2):c.704-16G>T
|
rs185614302
|
0.00033
|
|
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe)
|
rs140499200
|
0.00033
|
|
NM_022436.3(ABCG5):c.27C>T (p.Pro9=)
|
rs72542428
|
0.00033
|
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
|
NM_031471.6(FERMT3):c.683+18G>A
|
rs369707009
|
0.00033
|
|
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg)
|
rs140950220
|
0.00033
|
|
NM_033026.6(PCLO):c.8483C>T (p.Thr2828Ile)
|
rs189352647
|
0.00033
|
|
NM_174936.4(PCSK9):c.336G>A (p.Leu112=)
|
rs79805678
|
0.00033
|
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
|
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg)
|
rs142619737
|
0.00032
|
|
NM_000110.4(DPYD):c.2180-11G>A
|
rs377136032
|
0.00032
|
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
|
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=)
|
rs193922378
|
0.00032
|
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
|
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)
|
rs373165011
|
0.00032
|
|
NM_000432.4(MYL2):c.342G>A (p.Leu114=)
|
rs199572927
|
0.00032
|
|
NM_000451.4(SHOX):c.633+5C>G
|
rs374178366
|
0.00032
|
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
|
NM_000518.5(HBB):c.-106G>C
|
rs63750681
|
0.00032
|
|
NM_000527.5(LDLR):c.1977C>A (p.Thr659=)
|
rs72658866
|
0.00032
|
|
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)
|
rs35691292
|
0.00032
|
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
|
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=)
|
rs150309802
|
0.00032
|
|
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)
|
rs151294087
|
0.00032
|
|
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)
|
rs45447801
|
0.00032
|
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
|
NM_001148.6(ANK2):c.8727C>T (p.Pro2909=)
|
rs144821187
|
0.00032
|
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
|
NM_001267550.2(TTN):c.39128-14T>C
|
rs200916144
|
0.00032
|
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
|
NM_001267550.2(TTN):c.8902+16T>A
|
rs66507451
|
0.00032
|
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
|
NM_001458.5(FLNC):c.2568C>T (p.Pro856=)
|
rs201611050
|
0.00032
|
|
NM_001999.4(FBN2):c.339G>A (p.Pro113=)
|
rs144540627
|
0.00032
|
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
|
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=)
|
rs111940956
|
0.00032
|
|
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile)
|
rs138206921
|
0.00032
|
|
NM_002769.5(PRSS1):c.417C>T (p.Cys139=)
|
rs141847266
|
0.00032
|
|
NM_002880.4(RAF1):c.321-14T>A
|
rs3730270
|
0.00032
|
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
|
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)
|
rs146104321
|
0.00032
|
|
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)
|
rs150125857
|
0.00032
|
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
|
NM_015909.4(NBAS):c.915G>A (p.Met305Ile)
|
rs562939436
|
0.00032
|
|
NM_020297.4(ABCC9):c.1165-20del
|
rs768812471
|
0.00032
|
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
|
NM_020778.5(ALPK3):c.1737C>T (p.Ser579=)
|
rs115301935
|
0.00032
|
|
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala)
|
rs376797531
|
0.00032
|
|
NM_030662.4(MAP2K2):c.93-20A>C
|
rs189388604
|
0.00032
|
|
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
|
rs149866482
|
0.00032
|
|
NM_183065.4(TMEM107):c.*638C>T
|
rs368022715
|
0.00032
|
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
|
NM_000055.4(BCHE):c.435T>A (p.Gly145=)
|
rs71534242
|
0.00031
|
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00031
|
|
NM_000093.5(COL5A1):c.3006+17C>T
|
rs140528268
|
0.00031
|
|
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=)
|
rs370349155
|
0.00031
|
|
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg)
|
rs144395748
|
0.00031
|
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=)
|
rs139878415
|
0.00031
|
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
|
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)
|
rs138325444
|
0.00031
|
|
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter)
|
rs147837686
|
0.00031
|
|
NM_001032283.3(TMPO):c.565+1493A>G
|
rs141347778
|
0.00031
|
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
|
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)
|
rs201829896
|
0.00031
|
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
|
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)
|
rs143161930
|
0.00031
|
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
|
NM_001378454.1(ALMS1):c.1338+19A>G
|
rs145633676
|
0.00031
|
|
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)
|
rs147499316
|
0.00031
|
|
NM_001379451.1(BCORL1):c.3604G>A (p.Glu1202Lys)
|
rs767569401
|
0.00031
|
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
|
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)
|
rs35035518
|
0.00031
|
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
|
NM_002598.4(PDCD2):c.82C>T (p.Pro28Ser)
|
rs773036976
|
0.00031
|
|
NM_003118.4(SPARC):c.36C>T (p.Ala12=)
|
rs200112320
|
0.00031
|
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
|
NM_004985.5(KRAS):c.451-5565G>A
|
rs200970347
|
0.00031
|
|
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu)
|
rs143972828
|
0.00031
|
|
NM_005188.4(CBL):c.1287C>T (p.Ile429=)
|
rs148368481
|
0.00031
|
|
NM_005751.5(AKAP9):c.948A>G (p.Val316=)
|
rs767404316
|
0.00031
|
|
NM_006939.4(SOS2):c.2640A>G (p.Ser880=)
|
rs146730136
|
0.00031
|
|
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met)
|
rs181216956
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
|
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=)
|
rs74067815
|
0.00031
|
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
|
NM_024334.3(TMEM43):c.442+7G>A
|
rs373590238
|
0.00031
|
|
NM_030662.4(MAP2K2):c.1191C>T (p.Arg397=)
|
rs148592592
|
0.00031
|
|
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser)
|
rs531533787
|
0.00031
|
|
NM_031407.7(HUWE1):c.2050-9G>T
|
rs377186422
|
0.00031
|
|
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)
|
rs111033538
|
0.00031
|
|
NM_053025.4(MYLK):c.711C>T (p.Asn237=)
|
rs149407805
|
0.00031
|
|
NM_053025.4(MYLK):c.754+17G>A
|
rs146661440
|
0.00031
|
|
NM_054012.4(ASS1):c.333C>T (p.Ala111=)
|
rs141568959
|
0.00031
|
|
NM_078470.6(COX15):c.329C>T (p.Pro110Leu)
|
rs144644373
|
0.00031
|
|
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs)
|
rs764429803
|
0.00031
|
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
|
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)
|
rs143754187
|
0.00031
|
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
|
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
|
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)
|
rs201824781
|
0.00030
|
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
|
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
|
rs144386518
|
0.00030
|
|
NM_000552.5(VWF):c.7025G>A (p.Arg2342His)
|
rs34120165
|
0.00030
|
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
|
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
|
rs121908576
|
0.00030
|
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
|
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)
|
rs147017239
|
0.00030
|
|
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)
|
rs138936064
|
0.00030
|
|
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)
|
rs150911744
|
0.00030
|
|
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)
|
rs201870762
|
0.00030
|
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
|
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)
|
rs189208539
|
0.00030
|
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
|
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)
|
rs143587828
|
0.00030
|
|
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser)
|
rs191172038
|
0.00030
|
|
NM_001379659.1(ZNF142):c.1718G>A (p.Arg573His)
|
rs139412557
|
0.00030
|
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
|
NM_001943.5(DSG2):c.1280+18G>C
|
rs141175168
|
0.00030
|
|
NM_002317.7(LOX):c.534T>C (p.Ser178=)
|
rs144768703
|
0.00030
|
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
|
NM_002471.4(MYH6):c.4611G>A (p.Val1537=)
|
rs142983918
|
0.00030
|
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
|
NM_003280.3(TNNC1):c.108C>A (p.Ile36=)
|
rs202000367
|
0.00030
|
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
|
NM_030662.4(MAP2K2):c.303+12G>A
|
rs376432107
|
0.00030
|
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
|
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)
|
rs149718203
|
0.00030
|
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
|
NM_000039.3(APOA1):c.*19C>G
|
rs187335584
|
0.00029
|
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
|
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)
|
rs80359251
|
0.00029
|
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
|
NM_000153.4(GALC):c.49A>G (p.Met17Val)
|
rs376662045
|
0.00029
|
|
NM_000155.4(GALT):c.*8G>A
|
rs370285476
|
0.00029
|
|
NM_000155.4(GALT):c.498T>C (p.Pro166=)
|
rs193922249
|
0.00029
|
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
|
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)
|
rs28936396
|
0.00029
|
|
NM_000218.3(KCNQ1):c.1794+11G>A
|
rs186188610
|
0.00029
|
|
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=)
|
rs371473271
|
0.00029
|
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
|
NM_000249.4(MLH1):c.1897-17C>G
|
rs2308316
|
0.00029
|
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
|
NM_000268.4(NF2):c.1340+8G>T
|
rs370604189
|
0.00029
|
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
|
NM_000335.5(SCN5A):c.3388-16A>T
|
rs376625229
|
0.00029
|
|
NM_000335.5(SCN5A):c.3837+17G>A
|
rs45466091
|
0.00029
|
|
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)
|
rs138004955
|
0.00029
|
|
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)
|
rs121918731
|
0.00029
|
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
|
NM_000465.4(BARD1):c.1515G>T (p.Gly505=)
|
rs139721211
|
0.00029
|
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00029
|
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
|
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)
|
rs186763441
|
0.00029
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
|
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln)
|
rs151138158
|
0.00029
|
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
|
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)
|
rs145463632
|
0.00029
|
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
|
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)
|
rs45608232
|
0.00029
|
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
|
NM_001267550.2(TTN):c.14451A>G (p.Thr4817=)
|
rs370621465
|
0.00029
|
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00029
|
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
|
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His)
|
rs143818717
|
0.00029
|
|
NM_001365951.3(KIF1B):c.2115+7081C>T
|
rs376558549
|
0.00029
|
|
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)
|
rs757999676
|
0.00029
|
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
|
NM_001556.3(IKBKB):c.318+6G>T
|
rs17875678
|
0.00029
|
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
|
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met)
|
rs142326016
|
0.00029
|
|
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)
|
rs144571463
|
0.00029
|
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
|
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)
|
rs144244239
|
0.00029
|
|
NM_002755.4(MAP2K1):c.1068+19G>A
|
rs188235318
|
0.00029
|
|
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)
|
rs144080051
|
0.00029
|
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
|
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)
|
rs184022679
|
0.00029
|
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
|
NM_003242.6(TGFBR2):c.263+17A>C
|
rs34771516
|
0.00029
|
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
|
NM_005094.4(SLC27A4):c.314G>A (p.Arg105His)
|
rs142664086
|
0.00029
|
|
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)
|
rs147675550
|
0.00029
|
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
|
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)
|
rs147543146
|
0.00029
|
|
NM_006270.5(RRAS):c.345-4G>A
|
rs377672475
|
0.00029
|
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
|
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser)
|
rs140995728
|
0.00029
|
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
|
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile)
|
rs147447659
|
0.00029
|
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
|
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00029
|
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
|
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)
|
rs199740882
|
0.00029
|
|
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys)
|
rs181513926
|
0.00029
|
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
|
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=)
|
rs150833333
|
0.00029
|
|
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys)
|
rs370190691
|
0.00029
|
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
|
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu)
|
rs773812911
|
0.00029
|
|
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=)
|
rs201562692
|
0.00029
|
|
NM_144670.6(A2ML1):c.3502+11C>T
|
rs138636296
|
0.00029
|
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
0.00029
|
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
|
NM_207581.4(DUOXA2):c.205+2T>C
|
rs201506037
|
0.00029
|
|
NM_000027.4(AGA):c.806+3A>G
|
rs368144874
|
0.00028
|
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
|
NM_000093.5(COL5A1):c.2331+16G>A
|
rs199654385
|
0.00028
|
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
|
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)
|
rs1553277702
|
0.00028
|
|
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=)
|
rs370945942
|
0.00028
|
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
|
NM_000301.5(PLG):c.12G>A (p.Lys4=)
|
rs4252061
|
0.00028
|
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
|
NM_000484.4(APP):c.742G>A (p.Asp248Asn)
|
rs200103591
|
0.00028
|
|
NM_000492.4(CFTR):c.1584+12T>C
|
rs193922502
|
0.00028
|
|
NM_000527.5(LDLR):c.940+16G>A
|
rs72658859
|
0.00028
|
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
|
NM_001035.3(RYR2):c.14809-20C>T
|
rs141119268
|
0.00028
|
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
|
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)
|
rs374014662
|
0.00028
|
|
NM_001194998.2(CEP152):c.3839A>G (p.Asp1280Gly)
|
rs539483307
|
0.00028
|
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
|
NM_002474.3(MYH11):c.1512C>T (p.Ile504=)
|
rs149630866
|
0.00028
|
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
|
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)
|
rs148690585
|
0.00028
|
|
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)
|
rs145068530
|
0.00028
|
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
|
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=)
|
rs55814314
|
0.00028
|
|
NM_005502.4(ABCA1):c.6018C>T (p.His2006=)
|
rs367815303
|
0.00028
|
|
NM_006129.5(BMP1):c.433+12A>G
|
rs201334369
|
0.00028
|
|
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)
|
rs147346173
|
0.00028
|
|
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)
|
rs56307355
|
0.00028
|
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
|
NM_014476.6(PDLIM3):c.331-16C>T
|
rs200663921
|
0.00028
|
|
NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser)
|
rs113419458
|
0.00028
|
|
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro)
|
rs145058237
|
0.00028
|
|
NM_030662.4(MAP2K2):c.-4C>G
|
rs747742961
|
0.00028
|
|
NM_032387.5(WNK4):c.1800del (p.Ala601fs)
|
rs61755595
|
0.00028
|
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
|
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=)
|
rs146213855
|
0.00028
|
|
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)
|
rs142909885
|
0.00028
|
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
|
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)
|
rs121434367
|
0.00027
|
|
NM_000179.3(MSH6):c.-18G>T
|
rs199913053
|
0.00027
|
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
|
NM_000335.5(SCN5A):c.3837+8T>C
|
rs372405305
|
0.00027
|
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
|
NM_000465.4(BARD1):c.1491A>G (p.Pro497=)
|
rs61754117
|
0.00027
|
|
NM_000518.5(HBB):c.316-19T>A
|
rs191535077
|
0.00027
|
|
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)
|
rs200847105
|
0.00027
|
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
0.00027
|
|
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=)
|
rs143587921
|
0.00027
|
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
|
NM_001267550.2(TTN):c.30433+15A>T
|
rs371872220
|
0.00027
|
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
|
NM_002834.3(PTPN11):c.*13A>G
|
rs201957261
|
0.00027
|
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
|
NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe)
|
rs201303856
|
0.00027
|
|
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)
|
rs149710600
|
0.00027
|
|
NM_006939.4(SOS2):c.294A>G (p.Lys98=)
|
rs149713664
|
0.00027
|
|
NM_006949.4(STXBP2):c.1357-13G>A
|
rs370994106
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
|
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)
|
rs148997255
|
0.00027
|
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
|
NM_053025.4(MYLK):c.2127G>A (p.Val709=)
|
rs138575251
|
0.00027
|
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
|
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=)
|
rs144984153
|
0.00026
|
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
|
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)
|
rs148273582
|
0.00026
|
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
|
NM_000101.4(CYBA):c.203+5G>A
|
rs200590340
|
0.00026
|
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
|
NM_000155.4(GALT):c.253-5G>A
|
rs762136953
|
0.00026
|
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
|
NM_000305.3(PON2):c.695+14T>C
|
rs372870308
|
0.00026
|
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
|
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)
|
rs142544320
|
0.00026
|
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
|
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)
|
rs370122334
|
0.00026
|
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
|
NM_000494.4(COL17A1):c.3418+2del
|
rs775244527
|
0.00026
|
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
|
NM_001005242.3(PKP2):c.696C>T (p.Asp232=)
|
rs375677250
|
0.00026
|
|
NM_001035.3(RYR2):c.14757-19A>G
|
rs190533014
|
0.00026
|
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
|
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=)
|
rs144808600
|
0.00026
|
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00026
|
|
NM_001103.4(ACTN2):c.1406+8C>T
|
rs397516567
|
0.00026
|
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
|
NM_001267550.2(TTN):c.38297-9T>A
|
rs199610136
|
0.00026
|
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00026
|
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
|
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)
|
rs113302393
|
0.00026
|
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
|
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=)
|
rs200592054
|
0.00026
|
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
|
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)
|
rs78439745
|
0.00026
|
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
|
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)
|
rs767503038
|
0.00026
|
|
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=)
|
rs374418354
|
0.00026
|
|
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met)
|
rs148234507
|
0.00026
|
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
|
NM_005751.5(AKAP9):c.8656A>G (p.Ile2886Val)
|
rs143283097
|
0.00026
|
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
|
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
|
rs373359206
|
0.00026
|
|
NM_006506.5(RASA2):c.2493A>G (p.Arg831=)
|
rs142634033
|
0.00026
|
|
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)
|
rs587731325
|
0.00026
|
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
|
NM_014697.3(NOS1AP):c.576C>T (p.Ser192=)
|
rs146496289
|
0.00026
|
|
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)
|
rs200393300
|
0.00026
|
|
NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe)
|
rs200217946
|
0.00026
|
|
NM_020433.5(JPH2):c.1233G>A (p.Glu411=)
|
rs143061111
|
0.00026
|
|
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn)
|
rs199895459
|
0.00026
|
|
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)
|
rs199473676
|
0.00026
|
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
|
NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln)
|
rs148354898
|
0.00026
|
|
NM_033343.4(LHX4):c.37G>A (p.Val13Ile)
|
rs146664099
|
0.00026
|
|
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)
|
rs199988497
|
0.00026
|
|
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp)
|
rs200503836
|
0.00026
|
|
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala)
|
rs374408168
|
0.00026
|
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
|
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)
|
rs145173864
|
0.00025
|
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
|
NM_000080.4(CHRNE):c.46+5G>A
|
rs375802288
|
0.00025
|
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
|
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)
|
rs1183369398
|
0.00025
|
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
0.00025
|
|
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys)
|
rs45499704
|
0.00025
|
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
|
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)
|
rs142864834
|
0.00025
|
|
NM_000535.7(PMS2):c.1242C>T (p.Asp414=)
|
rs142839559
|
0.00025
|
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
|
NM_000552.5(VWF):c.56-7C>T
|
rs374802332
|
0.00025
|
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
|
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=)
|
rs200602896
|
0.00025
|
|
NM_000795.4(DRD2):c.191C>T (p.Ala64Val)
|
rs201137518
|
0.00025
|
|
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly)
|
rs139599160
|
0.00025
|
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
|
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg)
|
rs144176855
|
0.00025
|
|
NM_001395891.1(CLASP1):c.196-562G>A
|
rs370715569
|
0.00025
|
|
NM_001677.4(ATP1B1):c.837C>T (p.Tyr279=)
|
rs145238933
|
0.00025
|
|
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
|
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)
|
rs200390529
|
0.00025
|
|
NM_002230.4(JUP):c.1910G>A (p.Arg637His)
|
rs142095597
|
0.00025
|
|
NM_002471.4(MYH6):c.642+16C>T
|
rs547762012
|
0.00025
|
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
|
NM_002485.5(NBN):c.939G>A (p.Ala313=)
|
rs145750430
|
0.00025
|
|
NM_002524.5(NRAS):c.112-8A>G
|
rs9724626
|
0.00025
|
|
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln)
|
rs3219457
|
0.00025
|
|
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)
|
rs377720622
|
0.00025
|
|
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)
|
rs114970039
|
0.00025
|
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
|
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala)
|
rs199939219
|
0.00025
|
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
|
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)
|
rs144253015
|
0.00025
|
|
NM_005751.5(AKAP9):c.3952+14A>G
|
rs147955593
|
0.00025
|
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
|
NM_006231.4(POLE):c.1405C>T (p.Leu469=)
|
rs368303888
|
0.00025
|
|
NM_006258.4(PRKG1):c.840+14G>T
|
rs146372571
|
0.00025
|
|
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)
|
rs148916790
|
0.00025
|
|
NM_007078.3(LDB3):c.1971C>T (p.Cys657=)
|
rs140552419
|
0.00025
|
|
NM_012186.3(FOXE3):c.831C>T (p.Gly277=)
|
rs527783871
|
0.00025
|
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
|
NM_014049.5(ACAD9):c.1149+5C>A
|
rs367985938
|
0.00025
|
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
|
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)
|
rs143676440
|
0.00025
|
|
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)
|
rs201814961
|
0.00025
|
|
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)
|
rs138777049
|
0.00025
|
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
|
NM_144670.6(A2ML1):c.728+13G>A
|
rs373095814
|
0.00025
|
|
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)
|
rs199473648
|
0.00025
|
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
|
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)
|
rs140079753
|
0.00025
|
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
|
NM_000055.4(BCHE):c.155C>T (p.Thr52Met)
|
rs56309853
|
0.00024
|
|
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr)
|
rs80358881
|
0.00024
|
|
NM_000089.4(COL1A2):c.639+19A>T
|
rs183516726
|
0.00024
|
|
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)
|
rs147058179
|
0.00024
|
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
|
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)
|
rs199472820
|
0.00024
|
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
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_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
|
NM_000518.5(HBB):c.316-45G>C
|
rs140033163
|
0.00024
|
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
|
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=)
|
rs138877244
|
0.00024
|
|
NM_001035.3(RYR2):c.10554+16T>C
|
rs370288739
|
0.00024
|
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00024
|
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
|
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)
|
rs146353237
|
0.00024
|
|
NM_001267550.2(TTN):c.17740+17T>C
|
rs369532031
|
0.00024
|
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
|
NM_001353108.3(CEP63):c.2038C>T (p.Arg680Cys)
|
rs141217824
|
0.00024
|
|
NM_001354712.2(THRB):c.1299C>T (p.Ala433=)
|
rs144206187
|
0.00024
|
|
NM_001365999.1(SZT2):c.9172G>A (p.Val3058Met)
|
rs143959495
|
0.00024
|
|
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)
|
rs140716525
|
0.00024
|
|
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile)
|
rs749667545
|
0.00024
|
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
|
NM_001851.6(COL9A1):c.1423G>A (p.Gly475Ser)
|
rs143320197
|
0.00024
|
|
NM_001853.4(COL9A3):c.345+15T>C
|
rs542217955
|
0.00024
|
|
NM_002294.3(LAMP2):c.741+11C>T
|
rs149155417
|
0.00024
|
|
NM_002471.4(MYH6):c.4359+10G>A
|
rs368183862
|
0.00024
|
|
NM_002474.3(MYH11):c.120G>A (p.Ser40=)
|
rs144275008
|
0.00024
|
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
|
NM_002755.4(MAP2K1):c.1068+9A>G
|
rs368800650
|
0.00024
|
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
|
NM_002880.4(RAF1):c.1537-11G>A
|
rs182394722
|
0.00024
|
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
|
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)
|
rs201543030
|
0.00024
|
|
NM_003322.6(TULP1):c.190+6C>T
|
rs529180227
|
0.00024
|
|
NM_003922.4(HERC1):c.6788G>A (p.Ser2263Asn)
|
rs200964205
|
0.00024
|
|
NM_004004.6(GJB2):c.-127G>C
|
rs727503068
|
0.00024
|
|
NM_004333.6(BRAF):c.-5A>G
|
rs71645936
|
0.00024
|
|
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)
|
rs201888442
|
0.00024
|
|
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=)
|
rs147388628
|
0.00024
|
|
NM_004655.4(AXIN2):c.1491C>T (p.Cys497=)
|
rs150292240
|
0.00024
|
|
NM_005562.3(LAMC2):c.2014+5T>C
|
rs377208927
|
0.00024
|
|
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val)
|
rs145438966
|
0.00024
|
|
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)
|
rs149217423
|
0.00024
|
|
NM_005911.6(MAT2A):c.324A>T (p.Val108=)
|
rs377763337
|
0.00024
|
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
|
NM_006949.4(STXBP2):c.1247-1G>C
|
rs140148806
|
0.00024
|
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
|
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met)
|
rs201929226
|
0.00024
|
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
|
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)
|
rs199605881
|
0.00024
|
|
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys)
|
rs139194636
|
0.00024
|
|
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=)
|
rs147086700
|
0.00024
|
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
|
NM_024529.5(CDC73):c.-10G>T
|
rs188082584
|
0.00024
|
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
|
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)
|
rs144850779
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_080680.3(COL11A2):c.1819-10G>A
|
rs3129202
|
0.00024
|
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
|
NM_170601.5(SIAE):c.1211T>C (p.Phe404Ser)
|
rs201877149
|
0.00024
|
|
NM_174936.4(PCSK9):c.1294G>A (p.Asp432Asn)
|
rs72646515
|
0.00024
|
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
|
NM_203446.3(SYNJ1):c.125-17A>G
|
rs113560074
|
0.00024
|
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
|
NM_000040.3(APOC3):c.179+1G>T
|
rs140621530
|
0.00023
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val)
|
rs35335654
|
0.00023
|
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
|
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser)
|
rs745888361
|
0.00023
|
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
|
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)
|
rs146810389
|
0.00023
|
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
|
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)
|
rs193922534
|
0.00023
|
|
NM_000552.5(VWF):c.6016G>A (p.Glu2006Lys)
|
rs140229844
|
0.00023
|
|
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=)
|
rs200283756
|
0.00023
|
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
|
NM_001110556.2(FLNA):c.4970-18C>A
|
rs200639431
|
0.00023
|
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
|
NM_001174089.2(SLC4A11):c.902C>T (p.Thr301Met)
|
rs139941321
|
0.00023
|
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
|
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)
|
rs201084372
|
0.00023
|
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
|
NM_002471.4(MYH6):c.2430-4C>A
|
rs376527296
|
0.00023
|
|
NM_002878.4(RAD51D):c.434G>A (p.Arg145His)
|
rs147264215
|
0.00023
|
|
NM_003239.5(TGFB3):c.647-12C>G
|
rs61762490
|
0.00023
|
|
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu)
|
rs201735305
|
0.00023
|
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00023
|
|
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys)
|
rs143462810
|
0.00023
|
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
|
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=)
|
rs376614211
|
0.00023
|
|
NM_015627.3(LDLRAP1):c.344+4C>T
|
rs371561646
|
0.00023
|
|
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=)
|
rs200092299
|
0.00023
|
|
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=)
|
rs200814776
|
0.00023
|
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
|
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)
|
rs149441561
|
0.00023
|
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
|
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro)
|
rs146576868
|
0.00023
|
|
NM_139276.3(STAT3):c.825T>G (p.Leu275=)
|
rs200098006
|
0.00023
|
|
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=)
|
rs200088686
|
0.00023
|
|
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys)
|
rs182743597
|
0.00023
|
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
|
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile)
|
rs200759807
|
0.00022
|
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
|
NM_000155.3(GALT):c.-739C>T
|
rs778861821
|
0.00022
|
|
NM_000237.3(LPL):c.687T>C (p.His229=)
|
rs45607438
|
0.00022
|
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
|
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=)
|
rs369999866
|
0.00022
|
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
|
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg)
|
rs202074006
|
0.00022
|
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
|
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)
|
rs142788946
|
0.00022
|
|
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)
|
rs148012328
|
0.00022
|
|
NM_000387.6(SLC25A20):c.198+2T>C
|
rs147540030
|
0.00022
|
|
NM_000432.4(MYL2):c.353+12C>A
|
rs186323458
|
0.00022
|
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
|
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
|
rs138978909
|
0.00022
|
|
NM_000546.6(TP53):c.216C>T (p.Pro72=)
|
rs56275308
|
0.00022
|
|
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr)
|
rs61752864
|
0.00022
|
|
NM_000719.7(CACNA1C):c.4726+9G>A
|
rs369267978
|
0.00022
|
|
NM_001005242.3(PKP2):c.198G>A (p.Arg66=)
|
rs144106848
|
0.00022
|
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
|
NM_001079.4(ZAP70):c.756G>A (p.Glu252=)
|
rs150682182
|
0.00022
|
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
|
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)
|
rs148462839
|
0.00022
|
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
|
NM_001261826.3(AP3D1):c.3596C>T (p.Thr1199Met)
|
rs200727342
|
0.00022
|
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00022
|
|
NM_001267550.2(TTN):c.54811+15G>A
|
rs201450276
|
0.00022
|
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
|
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)
|
rs201682415
|
0.00022
|
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
|
NM_001367561.1(DOCK7):c.2113-18A>G
|
rs201000785
|
0.00022
|
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
|
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)
|
rs199615641
|
0.00022
|
|
NM_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter)
|
rs142095937
|
0.00022
|
|
NM_001613.4(ACTA2):c.455-18C>T
|
rs139684702
|
0.00022
|
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
0.00022
|
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
|
NM_002317.7(LOX):c.395C>T (p.Ser132Phe)
|
rs141394149
|
0.00022
|
|
NM_002615.7(SERPINF1):c.441G>C (p.Lys147Asn)
|
rs138341386
|
0.00022
|
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
|
NM_005592.4(MUSK):c.549A>G (p.Glu183=)
|
rs369254308
|
0.00022
|
|
NM_005633.4(SOS1):c.1770G>A (p.Glu590=)
|
rs553331572
|
0.00022
|
|
NM_005732.4(RAD50):c.1677C>T (p.His559=)
|
rs142619269
|
0.00022
|
|
NM_006258.4(PRKG1):c.1002-9G>A
|
rs200218082
|
0.00022
|
|
NM_006361.6(HOXB13):c.567C>T (p.Asn189=)
|
rs143945091
|
0.00022
|
|
NM_006361.6(HOXB13):c.602-9G>A
|
rs148901331
|
0.00022
|
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
|
NM_014000.3(VCL):c.1744-19T>G
|
rs201488697
|
0.00022
|
|
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=)
|
rs2234471
|
0.00022
|
|
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=)
|
rs199892488
|
0.00022
|
|
NM_017668.3(NDE1):c.948-3127C>T
|
rs181115969
|
0.00022
|
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
|
NM_021175.4(HAMP):c.175C>G (p.Arg59Gly)
|
rs779021719
|
0.00022
|
|
NM_024409.4(NPPC):c.159C>A (p.Gly53=)
|
rs375846160
|
0.00022
|
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
|
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln)
|
rs61753339
|
0.00022
|
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
|
NM_032119.4(ADGRV1):c.8204A>G (p.Asn2735Ser)
|
rs200604083
|
0.00022
|
|
NM_033026.6(PCLO):c.14209C>A (p.Leu4737Ile)
|
rs199650110
|
0.00022
|
|
NM_053025.4(MYLK):c.4322-11G>A
|
rs371724615
|
0.00022
|
|
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=)
|
rs144436556
|
0.00022
|
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
|
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln)
|
rs142219499
|
0.00022
|
|
NM_153603.4(COG7):c.86C>T (p.Ala29Val)
|
rs146918812
|
0.00022
|
|
NM_174936.4(PCSK9):c.993C>T (p.Pro331=)
|
rs376753957
|
0.00022
|
|
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His)
|
rs77428810
|
0.00022
|
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
|
NM_000038.6(APC):c.1419G>A (p.Gln473=)
|
rs141579422
|
0.00021
|
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
|
NM_000038.6(APC):c.564A>G (p.Gln188=)
|
rs377493489
|
0.00021
|
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
|
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)
|
rs148880015
|
0.00021
|
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
|
NM_000090.4(COL3A1):c.1977+9C>T
|
rs184223621
|
0.00021
|
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
|
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)
|
rs375631252
|
0.00021
|
|
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys)
|
rs72480442
|
0.00021
|
|
NM_000117.3(EMD):c.639T>C (p.Pro213=)
|
rs782196388
|
0.00021
|
|
NM_000132.4(F8):c.1866T>C (p.Leu622=)
|
rs1800290
|
0.00021
|
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
|
NM_000155.3(GALT):c.-121C>G
|
rs368046870
|
0.00021
|
|
NM_000179.3(MSH6):c.*49_*68dup
|
rs777409019
|
0.00021
|
|
NM_000237.3(LPL):c.189C>T (p.Ser63=)
|
rs114726797
|
0.00021
|
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
|
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser)
|
rs141692280
|
0.00021
|
|
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=)
|
rs372328054
|
0.00021
|
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00021
|
|
NM_000388.4(CASR):c.2237C>T (p.Ala746Val)
|
rs139417576
|
0.00021
|
|
NM_000404.4(GLB1):c.75+2dup
|
rs587776525
|
0.00021
|
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
|
NM_000487.6(ARSA):c.656G>A (p.Arg219His)
|
rs148403406
|
0.00021
|
|
NM_000518.5(HBB):c.-138C>T
|
rs33944208
|
0.00021
|
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
|
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=)
|
rs373968155
|
0.00021
|
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
|
NM_001035.3(RYR2):c.2613+4C>G
|
rs371880082
|
0.00021
|
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
|
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
|
NM_001148.6(ANK2):c.8388G>A (p.Pro2796=)
|
rs369684289
|
0.00021
|
|
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu)
|
rs201781919
|
0.00021
|
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
|
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)
|
rs72647883
|
0.00021
|
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
|
NM_001378454.1(ALMS1):c.12362+17_12362+18del
|
rs768207589
|
0.00021
|
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
|
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=)
|
rs145009331
|
0.00021
|
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
|
NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg)
|
rs200330029
|
0.00021
|
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
|
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile)
|
rs111677442
|
0.00021
|
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00021
|
|
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)
|
rs143672551
|
0.00021
|
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
|
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=)
|
rs140662877
|
0.00021
|
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
|
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser)
|
rs201240844
|
0.00021
|
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
|
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn)
|
rs72468630
|
0.00021
|
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
|
NM_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
|
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=)
|
rs756398963
|
0.00021
|
|
NM_006129.5(BMP1):c.2438C>T (p.Ala813Val)
|
rs140902180
|
0.00021
|
|
NM_006231.4(POLE):c.519C>T (p.Ala173=)
|
rs187690610
|
0.00021
|
|
NM_006231.4(POLE):c.561C>T (p.Tyr187=)
|
rs143938822
|
0.00021
|
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
|
NM_006767.4(LZTR1):c.2301C>T (p.Asn767=)
|
rs112615858
|
0.00021
|
|
NM_006767.4(LZTR1):c.678A>T (p.Pro226=)
|
rs200001328
|
0.00021
|
|
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr)
|
rs139796627
|
0.00021
|
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
|
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=)
|
rs140588714
|
0.00021
|
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
|
NM_012114.3(CASP14):c.729G>A (p.Ter243=)
|
rs202004752
|
0.00021
|
|
NM_013975.4(LIG3):c.1383G>A (p.Val461=)
|
rs3135988
|
0.00021
|
|
NM_014000.3(VCL):c.1788A>C (p.Ser596=)
|
rs199582103
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys)
|
rs375776718
|
0.00021
|
|
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=)
|
rs928922661
|
0.00021
|
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
|
NM_018993.4(RIN2):c.2398A>T (p.Ser800Cys)
|
rs368984007
|
0.00021
|
|
NM_022114.4(PRDM16):c.1797G>A (p.Ser599=)
|
rs201769516
|
0.00021
|
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
|
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)
|
rs143535006
|
0.00021
|
|
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)
|
rs139590716
|
0.00021
|
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
|
NM_030662.4(MAP2K2):c.450+17C>T
|
rs199892711
|
0.00021
|
|
NM_030780.5(SLC25A32):c.440G>A (p.Arg147His)
|
rs142329098
|
0.00021
|
|
NM_033305.3(VPS13A):c.6379-19T>G
|
rs766881111
|
0.00021
|
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
|
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu)
|
rs139805184
|
0.00021
|
|
NM_198253.3(TERT):c.3257G>A (p.Arg1086His)
|
rs200288187
|
0.00021
|
|
NM_199242.3(UNC13D):c.118-308C>T
|
rs959968589
|
0.00021
|
|
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys)
|
rs148574729
|
0.00021
|
|
NR_003051.4(RMRP):n.59_60insA
|
rs1053360711
|
0.00021
|
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
rs80358521
|
0.00020
|
|
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)
|
rs80358725
|
0.00020
|
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
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_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
|
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)
|
rs112170830
|
0.00020
|
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
|
NM_001110556.2(FLNA):c.732C>T (p.Pro244=)
|
rs371092631
|
0.00020
|
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
|
NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg)
|
rs200628845
|
0.00020
|
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
|
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)
|
rs144860423
|
0.00020
|
|
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)
|
rs138672490
|
0.00020
|
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
|
NM_004612.4(TGFBR1):c.-13T>C
|
rs886063220
|
0.00020
|
|
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
|
rs878854714
|
0.00020
|
|
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)
|
rs28903093
|
0.00020
|
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
|
NM_006506.5(RASA2):c.1826+20C>T
|
rs373342734
|
0.00020
|
|
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
|
rs143332839
|
0.00020
|
|
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp)
|
rs150393358
|
0.00020
|
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
|
NM_013975.4(LIG3):c.1332G>A (p.Ser444=)
|
rs111958156
|
0.00020
|
|
NM_014908.4(DOLK):c.159C>G (p.Ala53=)
|
rs199857223
|
0.00020
|
|
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly)
|
rs201045092
|
0.00020
|
|
NM_018249.6(CDK5RAP2):c.4297+5G>A
|
rs201798027
|
0.00020
|
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
|
NM_022436.3(ABCG5):c.897C>T (p.Asp299=)
|
rs373237261
|
0.00020
|
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
|
NM_024675.4(PALB2):c.2244A>G (p.Thr748=)
|
rs750048627
|
0.00020
|
|
NM_031471.6(FERMT3):c.1080-5C>T
|
rs143722885
|
0.00020
|
|
NM_033118.4(MYLK2):c.972+14G>A
|
rs193922713
|
0.00020
|
|
NM_053025.4(MYLK):c.1310-20T>C
|
rs375101899
|
0.00020
|
|
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=)
|
rs147735490
|
0.00020
|
|
NM_053025.4(MYLK):c.455G>A (p.Arg152His)
|
rs201754358
|
0.00020
|
|
NM_130849.4(SLC39A4):c.192+19G>A
|
rs368996660
|
0.00020
|
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
|
NM_138694.4(PKHD1):c.7734-6C>A
|
rs367564272
|
0.00020
|
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
|
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)
|
rs137878146
|
0.00020
|
|
NM_000016.6(ACADM):c.187G>C (p.Val63Leu)
|
rs149308824
|
0.00019
|
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
|
NM_000038.6(APC):c.1488A>T (p.Thr496=)
|
rs9282599
|
0.00019
|
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
|
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu)
|
rs201629780
|
0.00019
|
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00019
|
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
|
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=)
|
rs181183366
|
0.00019
|
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
|
NM_000075.4(CDK4):c.306A>G (p.Thr102=)
|
rs201202764
|
0.00019
|
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
|
NM_000088.4(COL1A1):c.299-15C>T
|
rs199523510
|
0.00019
|
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
|
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
|
rs149342284
|
0.00019
|
|
NM_000117.3(EMD):c.445G>C (p.Asp149His)
|
rs2070818
|
0.00019
|
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
|
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His)
|
rs13306425
|
0.00019
|
|
NM_000212.3(ITGB3):c.900T>C (p.His300=)
|
rs376378154
|
0.00019
|
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
|
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=)
|
rs397515946
|
0.00019
|
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
|
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=)
|
rs147433856
|
0.00019
|
|
NM_000257.4(MYH7):c.796+7G>A
|
rs369286647
|
0.00019
|
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
|
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
|
rs45609733
|
0.00019
|
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
|
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met)
|
rs4148619
|
0.00019
|
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
|
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met)
|
rs142271471
|
0.00019
|
|
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met)
|
rs373122168
|
0.00019
|
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
|
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn)
|
rs370610267
|
0.00019
|
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
|
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val)
|
rs193922536
|
0.00019
|
|
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
|
rs138058578
|
0.00019
|
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
|
NM_000527.5(LDLR):c.1530G>A (p.Thr510=)
|
rs367655096
|
0.00019
|
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
|
NM_001032283.3(TMPO):c.-11A>C
|
rs377404642
|
0.00019
|
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
|
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)
|
rs141432759
|
0.00019
|
|
NM_001083116.3(PRF1):c.563C>T (p.Pro188Leu)
|
rs150156593
|
0.00019
|
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
|
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val)
|
rs201130736
|
0.00019
|
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
|
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val)
|
rs532112751
|
0.00019
|
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
|
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)
|
rs186404793
|
0.00019
|
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
|
NM_001283009.2(RTEL1):c.1349-9G>A
|
rs772899702
|
0.00019
|
|
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)
|
rs148609143
|
0.00019
|
|
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp)
|
rs370477960
|
0.00019
|
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
|
NM_001367561.1(DOCK7):c.1585C>T (p.Leu529Phe)
|
rs142744313
|
0.00019
|
|
NM_001367624.2(ZNF469):c.9214G>A (p.Gly3072Ser)
|
rs557364171
|
0.00019
|
|
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter)
|
rs148139814
|
0.00019
|
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
|
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=)
|
rs376244626
|
0.00019
|
|
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg)
|
rs372259202
|
0.00019
|
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
|
NM_001458.5(FLNC):c.1354G>A (p.Val452Met)
|
rs192163925
|
0.00019
|
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
|
NM_001710.6(CFB):c.1407C>G (p.Ile469Met)
|
rs201798809
|
0.00019
|
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
|
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
|
rs142457302
|
0.00019
|
|
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser)
|
rs148708451
|
0.00019
|
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
|
NM_002485.5(NBN):c.2220T>C (p.Ala740=)
|
rs147494981
|
0.00019
|
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
|
NM_002485.5(NBN):c.804G>A (p.Thr268=)
|
rs141443872
|
0.00019
|
|
NM_002691.4(POLD1):c.2955G>T (p.Arg985=)
|
rs770495723
|
0.00019
|
|
NM_002778.4(PSAP):c.208G>T (p.Val70Phe)
|
rs750239809
|
0.00019
|
|
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)
|
rs148770543
|
0.00019
|
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
|
NM_003632.3(CNTNAP1):c.2703G>A (p.Met901Ile)
|
rs146094809
|
0.00019
|
|
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu)
|
rs149809280
|
0.00019
|
|
NM_004100.5(EYA4):c.*16G>A
|
rs376077686
|
0.00019
|
|
NM_004360.5(CDH1):c.1296C>T (p.Asn432=)
|
rs187862045
|
0.00019
|
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
|
NM_005502.4(ABCA1):c.*16del
|
rs762785983
|
0.00019
|
|
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)
|
rs200996196
|
0.00019
|
|
NM_005732.4(RAD50):c.3861C>T (p.Tyr1287=)
|
rs368356436
|
0.00019
|
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
|
NM_006129.5(BMP1):c.239G>A (p.Arg80His)
|
rs73549580
|
0.00019
|
|
NM_006231.4(POLE):c.3378+10A>G
|
rs193075152
|
0.00019
|
|
NM_006506.5(RASA2):c.528-4T>G
|
rs201832322
|
0.00019
|
|
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys)
|
rs140979375
|
0.00019
|
|
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
|
rs147081547
|
0.00019
|
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
|
NM_007294.4(BRCA1):c.828A>G (p.Thr276=)
|
rs186274774
|
0.00019
|
|
NM_007373.4(SHOC2):c.841+12G>A
|
rs201258692
|
0.00019
|
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
|
NM_012186.3(FOXE3):c.828C>G (p.Pro276=)
|
rs887265865
|
0.00019
|
|
NM_013275.6(ANKRD11):c.3282C>G (p.Ile1094Met)
|
rs139384857
|
0.00019
|
|
NM_013975.4(LIG3):c.722C>T (p.Ser241Leu)
|
rs201814781
|
0.00019
|
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
|
NM_017617.5(NOTCH1):c.2353+13C>T
|
rs200756000
|
0.00019
|
|
NM_017617.5(NOTCH1):c.5384+14G>A
|
rs755122664
|
0.00019
|
|
NM_017668.3(NDE1):c.948-3368C>A
|
rs189463893
|
0.00019
|
|
NM_020533.3(MCOLN1):c.1360-16G>A
|
rs367955829
|
0.00019
|
|
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)
|
rs150666859
|
0.00019
|
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
|
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser)
|
rs371166792
|
0.00019
|
|
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=)
|
rs61935741
|
0.00019
|
|
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile)
|
rs372561968
|
0.00019
|
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
|
NM_033337.3(CAV3):c.306G>A (p.Ala102=)
|
rs149375325
|
0.00019
|
|
NM_053025.4(MYLK):c.2140+15C>T
|
rs370641462
|
0.00019
|
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
|
NM_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
|
NM_133378.4(TTN):c.19928-7C>T
|
rs771244164
|
0.00019
|
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
|
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys)
|
rs750524549
|
0.00019
|
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
|
NM_172201.2(KCNE2):c.354G>A (p.Gly118=)
|
rs187917779
|
0.00019
|
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
|
NM_198129.4(LAMA3):c.5780C>T (p.Thr1927Ile)
|
rs146039146
|
0.00019
|
|
NM_199242.3(UNC13D):c.3145C>G (p.Pro1049Ala)
|
rs750743318
|
0.00019
|
|
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro)
|
rs77164494
|
0.00019
|
|
NM_203447.4(DOCK8):c.5223+15G>T
|
rs574618395
|
0.00019
|
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
|
NM_213599.3(ANO5):c.797C>T (p.Pro266Leu)
|
rs745908606
|
0.00019
|
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
|
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)
|
rs55989760
|
0.00018
|
|
NM_000129.4(F13A1):c.1695G>A (p.Pro565=)
|
rs372651461
|
0.00018
|
|
NM_000138.5(FBN1):c.228C>T (p.Gly76=)
|
rs141651917
|
0.00018
|
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
|
NM_000218.3(KCNQ1):c.605-11G>A
|
rs200828849
|
0.00018
|
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
|
NM_000314.4(PTEN):c.-1242G>A
|
rs587779985
|
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_000370.3(TTPA):c.204+6C>T
|
rs574780098
|
0.00018
|
|
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)
|
rs13306300
|
0.00018
|
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
|
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu)
|
rs199662246
|
0.00018
|
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
|
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)
|
rs143501870
|
0.00018
|
|
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)
|
rs188598190
|
0.00018
|
|
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)
|
rs376330042
|
0.00018
|
|
NM_000527.5(LDLR):c.345C>G (p.Arg115=)
|
rs150144164
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
|
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg)
|
rs61750598
|
0.00018
|
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
|
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)
|
rs143516811
|
0.00018
|
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
|
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
|
NM_001267550.2(TTN):c.31422G>A (p.Val10474=)
|
rs72650020
|
0.00018
|
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
|
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)
|
rs199909967
|
0.00018
|
|
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
|
NM_001379500.1(COL18A1):c.3133G>A (p.Glu1045Lys)
|
rs200427354
|
0.00018
|
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
|
NM_002230.4(JUP):c.426C>T (p.Arg142=)
|
rs142599474
|
0.00018
|
|
NM_002273.4(KRT8):c.1392G>T (p.Lys464Asn)
|
rs201507031
|
0.00018
|
|
NM_002335.4(LRP5):c.4049T>G (p.Leu1350Arg)
|
rs531205284
|
0.00018
|
|
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)
|
rs142539180
|
0.00018
|
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
|
NM_002529.4(NTRK1):c.927G>A (p.Pro309=)
|
rs144015813
|
0.00018
|
|
NM_002878.4(RAD51D):c.39C>G (p.Thr13=)
|
rs146448657
|
0.00018
|
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
|
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)
|
rs201200122
|
0.00018
|
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
|
NM_003242.6(TGFBR2):c.984C>T (p.His328=)
|
rs193922666
|
0.00018
|
|
NM_003560.4(PLA2G6):c.1835G>T (p.Arg612Leu)
|
rs200117092
|
0.00018
|
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
|
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro)
|
rs201648505
|
0.00018
|
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
|
NM_005633.4(SOS1):c.2964+17A>G
|
rs201906525
|
0.00018
|
|
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly)
|
rs201048693
|
0.00018
|
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
|
NM_006939.4(SOS2):c.3076-17A>T
|
rs200184350
|
0.00018
|
|
NM_012281.3(KCND2):c.1338G>A (p.Gln446=)
|
rs144966242
|
0.00018
|
|
NM_014000.3(VCL):c.81C>T (p.His27=)
|
rs200733607
|
0.00018
|
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
|
NM_020117.11(LARS1):c.1501G>A (p.Ala501Thr)
|
rs139960441
|
0.00018
|
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
|
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met)
|
rs201855332
|
0.00018
|
|
NM_024422.6(DSC2):c.135C>T (p.Ala45=)
|
rs749323567
|
0.00018
|
|
NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn)
|
rs370629874
|
0.00018
|
|
NM_030662.4(MAP2K2):c.919+10G>A
|
rs780890887
|
0.00018
|
|
NM_032040.5(CCDC8):c.1605A>C (p.Glu535Asp)
|
rs146060947
|
0.00018
|
|
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp)
|
rs55672414
|
0.00018
|
|
NM_139076.3(ABRAXAS1):c.63G>A (p.Gln21=)
|
rs745494968
|
0.00018
|
|
NM_144670.6(A2ML1):c.1368C>T (p.His456=)
|
rs200983183
|
0.00018
|
|
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
|
rs199643834
|
0.00018
|
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
|
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
0.00017
|
|
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=)
|
rs762782389
|
0.00017
|
|
NM_000054.7(AVPR2):c.797T>C (p.Val266Ala)
|
rs111643041
|
0.00017
|
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
|
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)
|
rs189457419
|
0.00017
|
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
|
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)
|
rs142170797
|
0.00017
|
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
|
NM_000455.5(STK11):c.597+8C>T
|
rs565387911
|
0.00017
|
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
|
NM_000553.6(WRN):c.2114C>T (p.Thr705Ile)
|
rs141563618
|
0.00017
|
|
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=)
|
rs368065584
|
0.00017
|
|
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His)
|
rs79220301
|
0.00017
|
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
|
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)
|
rs35960628
|
0.00017
|
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
|
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)
|
rs371022420
|
0.00017
|
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
|
NM_001267550.2(TTN):c.68527+15G>A
|
rs184043128
|
0.00017
|
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
|
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=)
|
rs370844317
|
0.00017
|
|
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)
|
rs727503147
|
0.00017
|
|
NM_001384474.1(LOXHD1):c.828C>T (p.Asp276=)
|
rs200247093
|
0.00017
|
|
NM_001458.5(FLNC):c.3510C>T (p.Val1170=)
|
rs745571747
|
0.00017
|
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
|
NM_001943.5(DSG2):c.1280+17C>T
|
rs199885701
|
0.00017
|
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
|
NM_002230.4(JUP):c.1296C>T (p.Asn432=)
|
rs544224850
|
0.00017
|
|
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)
|
rs149980738
|
0.00017
|
|
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
|
rs147964932
|
0.00017
|
|
NM_003630.3(PEX3):c.456+3A>G
|
rs113147921
|
0.00017
|
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00017
|
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
|
NM_004333.6(BRAF):c.240+18A>G
|
rs368584855
|
0.00017
|
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
|
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)
|
rs201664019
|
0.00017
|
|
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)
|
rs116034780
|
0.00017
|
|
NM_005502.4(ABCA1):c.6545C>T (p.Ser2182Phe)
|
rs369476391
|
0.00017
|
|
NM_005585.5(SMAD6):c.636C>T (p.Asp212=)
|
rs575612166
|
0.00017
|
|
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)
|
rs376722127
|
0.00017
|
|
NM_005633.4(SOS1):c.3347-1G>A
|
rs141565234
|
0.00017
|
|
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu)
|
rs199895166
|
0.00017
|
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
|
NM_015275.3(WASHC4):c.3286G>A (p.Ala1096Thr)
|
rs113168943
|
0.00017
|
|
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His)
|
rs147793515
|
0.00017
|
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
|
NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr)
|
rs144622500
|
0.00017
|
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
|
NM_016335.6(PRODH):c.930-1G>C
|
rs751149776
|
0.00017
|
|
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=)
|
rs150546623
|
0.00017
|
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
|
NM_019098.5(CNGB3):c.1178+6T>C
|
rs151236891
|
0.00017
|
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
|
NM_020297.4(ABCC9):c.574-18G>A
|
rs376566343
|
0.00017
|
|
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser)
|
rs374272094
|
0.00017
|
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
|
NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00017
|
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
|
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu)
|
rs201762847
|
0.00017
|
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
|
NM_000038.6(APC):c.6669A>G (p.Ser2223=)
|
rs372680843
|
0.00016
|
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
|
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)
|
rs763064034
|
0.00016
|
|
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)
|
rs145747513
|
0.00016
|
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
|
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=)
|
rs145625991
|
0.00016
|
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
|
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)
|
rs373291490
|
0.00016
|
|
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)
|
rs199901898
|
0.00016
|
|
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=)
|
rs141091206
|
0.00016
|
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
|
NM_000104.4(CYP1B1):c.487C>T (p.Arg163Cys)
|
rs104894978
|
0.00016
|
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
|
NM_000157.4(GBA1):c.535G>C (p.Asp179His)
|
rs147138516
|
0.00016
|
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
|
NM_000179.3(MSH6):c.2925C>T (p.Asn975=)
|
rs139026662
|
0.00016
|
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
|
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)
|
rs116403115
|
0.00016
|
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
|
NM_000251.3(MSH2):c.1276+16G>A
|
rs368120695
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
|
NM_000326.5(RLBP1):c.925C>T (p.Gln309Ter)
|
rs769666232
|
0.00016
|
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
|
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)
|
rs192863214
|
0.00016
|
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
|
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)
|
rs376901046
|
0.00016
|
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
|
NM_000419.5(ITGA2B):c.1394-14C>T
|
rs368062044
|
0.00016
|
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
|
NM_000492.4(CFTR):c.-4G>C
|
rs369326781
|
0.00016
|
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
|
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)
|
rs193922546
|
0.00016
|
|
NM_000518.5(HBB):c.207C>T (p.Leu69=)
|
rs112287010
|
0.00016
|
|
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)
|
rs770408379
|
0.00016
|
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
|
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr)
|
rs199623726
|
0.00016
|
|
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val)
|
rs150923481
|
0.00016
|
|
NM_000552.5(VWF):c.7433G>A (p.Arg2478Gln)
|
rs111752224
|
0.00016
|
|
NM_000557.5(GDF5):c.241G>A (p.Gly81Arg)
|
rs148658511
|
0.00016
|
|
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=)
|
rs373996684
|
0.00016
|
|
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
|
NM_001042545.2(LTBP4):c.3268G>A (p.Ala1090Thr)
|
rs372105249
|
0.00016
|
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00016
|
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
|
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)
|
rs201310328
|
0.00016
|
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
|
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys)
|
rs562882648
|
0.00016
|
|
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)
|
rs766868824
|
0.00016
|
|
NM_001148.6(ANK2):c.11032+19A>G
|
rs200769962
|
0.00016
|
|
NM_001148.6(ANK2):c.2080-18G>T
|
rs199937888
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
0.00016
|
|
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp)
|
rs139078082
|
0.00016
|
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
|
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
|
rs367958537
|
0.00016
|
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
|
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln)
|
rs575837567
|
0.00016
|
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
|
NM_001267550.2(TTN):c.66549C>T (p.Asp22183=)
|
rs374667295
|
0.00016
|
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
|
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=)
|
rs370508895
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.3371G>A (p.Arg1124His)
|
rs762111513
|
0.00016
|
|
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys)
|
rs199548555
|
0.00016
|
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
|
NM_001395413.1(POR):c.841C>A (p.Pro281Thr)
|
rs72557937
|
0.00016
|
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
|
NM_001854.4(COL11A1):c.2295+6G>A
|
rs372529718
|
0.00016
|
|
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)
|
rs61731905
|
0.00016
|
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
|
NM_002230.4(JUP):c.527G>A (p.Arg176Gln)
|
rs144171604
|
0.00016
|
|
NM_002317.7(LOX):c.631+10C>T
|
rs199948468
|
0.00016
|
|
NM_002471.4(MYH6):c.4560A>G (p.Glu1520=)
|
rs200918670
|
0.00016
|
|
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)
|
rs201667127
|
0.00016
|
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
|
NM_002474.3(MYH11):c.2541G>A (p.Val847=)
|
rs373920725
|
0.00016
|
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
|
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=)
|
rs370854451
|
0.00016
|
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
|
NM_002485.5(NBN):c.2202A>G (p.Ala734=)
|
rs200452212
|
0.00016
|
|
NM_002691.4(POLD1):c.2337G>A (p.Ala779=)
|
rs147108748
|
0.00016
|
|
NM_002734.5(PRKAR1A):c.330G>A (p.Ala110=)
|
rs371834376
|
0.00016
|
|
NM_002769.5(PRSS1):c.40+13C>T
|
rs368872847
|
0.00016
|
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
|
NM_002880.4(RAF1):c.576A>G (p.Gln192=)
|
rs148759910
|
0.00016
|
|
NM_003036.4(SKI):c.1095+18G>A
|
rs748998967
|
0.00016
|
|
NM_003235.5(TG):c.3174C>T (p.Phe1058=)
|
rs140301550
|
0.00016
|
|
NM_003480.4(MFAP5):c.195T>A (p.Ile65=)
|
rs146558268
|
0.00016
|
|
NM_004004.6(GJB2):c.186C>T (p.Asn62=)
|
rs397516869
|
0.00016
|
|
NM_004004.6(GJB2):c.225G>T (p.Arg75=)
|
rs149137695
|
0.00016
|
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
|
NM_004333.6(BRAF):c.1860+16A>G
|
rs368859030
|
0.00016
|
|
NM_004333.6(BRAF):c.483G>C (p.Leu161=)
|
rs61730029
|
0.00016
|
|
NM_004341.5(CAD):c.1984G>A (p.Val662Ile)
|
rs147722428
|
0.00016
|
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
|
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)
|
rs367630003
|
0.00016
|
|
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)
|
rs145650440
|
0.00016
|
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
|
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)
|
rs200062984
|
0.00016
|
|
NM_004614.5(TK2):c.548G>A (p.Arg183Gln)
|
rs780333412
|
0.00016
|
|
NM_004985.5(KRAS):c.198A>G (p.Ala66=)
|
rs200229810
|
0.00016
|
|
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)
|
rs766886560
|
0.00016
|
|
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn)
|
rs373607825
|
0.00016
|
|
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=)
|
rs367846898
|
0.00016
|
|
NM_005502.4(ABCA1):c.4773+6C>T
|
rs368667473
|
0.00016
|
|
NM_005562.3(LAMC2):c.503+6T>C
|
rs375623003
|
0.00016
|
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
|
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly)
|
rs774277300
|
0.00016
|
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
|
NM_005981.5(TSPAN31):c.*2031T>A
|
rs370609910
|
0.00016
|
|
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)
|
rs202102042
|
0.00016
|
|
NM_006270.5(RRAS):c.516G>C (p.Ser172=)
|
rs199924228
|
0.00016
|
|
NM_006506.5(RASA2):c.1960G>A (p.Val654Ile)
|
rs150847466
|
0.00016
|
|
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln)
|
rs148921184
|
0.00016
|
|
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu)
|
rs763950976
|
0.00016
|
|
NM_006767.4(LZTR1):c.945C>T (p.Asp315=)
|
rs559942119
|
0.00016
|
|
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys)
|
rs368594369
|
0.00016
|
|
NM_006883.2(SHOX):c.-432-3C>A
|
rs1030279647
|
0.00016
|
|
NM_006949.4(STXBP2):c.1530C>T (p.Ala510=)
|
rs755717157
|
0.00016
|
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
|
NM_012452.3(TNFRSF13B):c.-20A>G
|
rs754331452
|
0.00016
|
|
NM_014000.3(VCL):c.1842G>A (p.Thr614=)
|
rs144117013
|
0.00016
|
|
NM_014244.5(ADAMTS2):c.1629+6G>A
|
rs377268307
|
0.00016
|
|
NM_014780.5(CUL7):c.2693C>G (p.Ser898Trp)
|
rs141829168
|
0.00016
|
|
NM_014795.4(ZEB2):c.3057C>T (p.Tyr1019=)
|
rs541915540
|
0.00016
|
|
NM_015141.4(GPD1L):c.1038C>T (p.Ser346=)
|
rs147092668
|
0.00016
|
|
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His)
|
rs368310677
|
0.00016
|
|
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)
|
rs200406024
|
0.00016
|
|
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys)
|
rs199584687
|
0.00016
|
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
|
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu)
|
rs145888229
|
0.00016
|
|
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=)
|
rs760548976
|
0.00016
|
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
|
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val)
|
rs767378629
|
0.00016
|
|
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=)
|
rs779442940
|
0.00016
|
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
|
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
|
rs144037310
|
0.00016
|
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
|
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)
|
rs377518118
|
0.00016
|
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
|
NM_022437.3(ABCG8):c.384G>A (p.Lys128=)
|
rs764690028
|
0.00016
|
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)
|
rs201721414
|
0.00016
|
|
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=)
|
rs369925884
|
0.00016
|
|
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)
|
rs145504336
|
0.00016
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
|
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)
|
rs200204126
|
0.00016
|
|
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=)
|
rs144885184
|
0.00016
|
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
|
NM_139076.3(ABRAXAS1):c.272A>T (p.Asn91Ile)
|
rs767146349
|
0.00016
|
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
|
NM_144670.6(A2ML1):c.2590+19A>G
|
rs368826484
|
0.00016
|
|
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile)
|
rs368114048
|
0.00016
|
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
|
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)
|
rs560475969
|
0.00016
|
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
|
NM_152415.3(VPS37A):c.918G>A (p.Gln306=)
|
rs370931373
|
0.00016
|
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
|
NR_003051.4(RMRP):n.6C>T
|
rs772443941
|
0.00016
|
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00015
|
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
|
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)
|
rs370567994
|
0.00015
|
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
rs55773834
|
0.00015
|
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
|
NM_000059.4(BRCA2):c.8499G>A (p.Lys2833=)
|
rs558819788
|
0.00015
|
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
|
NM_000153.4(GALC):c.1335A>G (p.Leu445=)
|
rs373277798
|
0.00015
|
|
NM_000155.4(GALT):c.564+15G>A
|
rs111033732
|
0.00015
|
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
|
NM_000235.4(LIPA):c.966+3A>T
|
rs201242614
|
0.00015
|
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
|
NM_000312.4(PROC):c.703A>C (p.Lys235Gln)
|
rs370086431
|
0.00015
|
|
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg)
|
rs553396434
|
0.00015
|
|
NM_000388.4(CASR):c.757C>A (p.Gln253Lys)
|
rs202179597
|
0.00015
|
|
NM_000432.4(MYL2):c.243G>T (p.Val81=)
|
rs368851472
|
0.00015
|
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
|
NM_000465.4(BARD1):c.1554C>T (p.Ala518=)
|
rs139612775
|
0.00015
|
|
NM_000465.4(BARD1):c.44G>T (p.Arg15Leu)
|
rs545107676
|
0.00015
|
|
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)
|
rs138587317
|
0.00015
|
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
|
NM_000535.7(PMS2):c.1944T>C (p.Phe648=)
|
rs144011908
|
0.00015
|
|
NM_000552.5(VWF):c.2344C>T (p.Arg782Trp)
|
rs61748471
|
0.00015
|
|
NM_000552.5(VWF):c.7730-4C>G
|
rs71581030
|
0.00015
|
|
NM_001032283.3(TMPO):c.565+2376C>T
|
rs202035749
|
0.00015
|
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
|
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile)
|
rs139633130
|
0.00015
|
|
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)
|
rs140281371
|
0.00015
|
|
NM_001110556.2(FLNA):c.-20C>A
|
rs781821429
|
0.00015
|
|
NM_001110792.2(MECP2):c.1176G>A (p.Val392=)
|
rs201711454
|
0.00015
|
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
|
NM_001256007.3(PNPLA8):c.587T>C (p.Ile196Thr)
|
rs147092803
|
0.00015
|
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
|
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)
|
rs780405420
|
0.00015
|
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
|
NM_001369268.1(ACAN):c.1948G>A (p.Val650Met)
|
rs201414869
|
0.00015
|
|
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=)
|
rs201474138
|
0.00015
|
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
|
NM_001384474.1(LOXHD1):c.2640C>T (p.Leu880=)
|
rs374614343
|
0.00015
|
|
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)
|
rs375141964
|
0.00015
|
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
|
NM_002317.7(LOX):c.308G>C (p.Arg103Pro)
|
rs200513395
|
0.00015
|
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
|
NM_003647.3(DGKE):c.713G>A (p.Gly238Glu)
|
rs201154049
|
0.00015
|
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
|
NM_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
|
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser)
|
rs187926894
|
0.00015
|
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
|
NM_004100.5(EYA4):c.1501+19A>G
|
rs200678450
|
0.00015
|
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
|
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=)
|
rs13306075
|
0.00015
|
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
|
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)
|
rs145428112
|
0.00015
|
|
NM_005732.4(RAD50):c.2688T>C (p.Thr896=)
|
rs537257801
|
0.00015
|
|
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)
|
rs189870832
|
0.00015
|
|
NM_006231.4(POLE):c.252C>T (p.Tyr84=)
|
rs148838481
|
0.00015
|
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
|
NM_006270.5(RRAS):c.255G>A (p.Ala85=)
|
rs142801791
|
0.00015
|
|
NM_006270.5(RRAS):c.600G>A (p.Pro200=)
|
rs183538580
|
0.00015
|
|
NM_006361.6(HOXB13):c.6G>A (p.Glu2=)
|
rs371544984
|
0.00015
|
|
NM_006767.4(LZTR1):c.594-3C>T
|
rs373968693
|
0.00015
|
|
NM_006767.4(LZTR1):c.96T>C (p.His32=)
|
rs372440263
|
0.00015
|
|
NM_006912.6(RIT1):c.237+10C>A
|
rs367785615
|
0.00015
|
|
NM_006939.4(SOS2):c.2057+19T>A
|
rs544924513
|
0.00015
|
|
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)
|
rs370890802
|
0.00015
|
|
NM_007078.3(LDB3):c.492G>T (p.Pro164=)
|
rs368407147
|
0.00015
|
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
|
NM_015459.5(ATL3):c.580C>T (p.Arg194Cys)
|
rs372986534
|
0.00015
|
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
|
NM_017757.3(ZNF407):c.1526C>T (p.Pro509Leu)
|
rs376677482
|
0.00015
|
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
|
NM_023936.2(MRPS34):c.322-10G>A
|
rs563189672
|
0.00015
|
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
|
NM_024422.6(DSC2):c.2019C>T (p.Thr673=)
|
rs201469817
|
0.00015
|
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
|
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=)
|
rs150800734
|
0.00015
|
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
|
NM_053025.4(MYLK):c.3652+10C>T
|
rs199521089
|
0.00015
|
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
|
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser)
|
rs780009431
|
0.00015
|
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00015
|
|
NM_207034.3(EDN3):c.554C>T (p.Thr185Met)
|
rs368327225
|
0.00015
|
|
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)
|
rs147165460
|
0.00015
|
|
NR_003051.4(RMRP):n.240C>T
|
rs749667892
|
0.00015
|
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
|
NM_000038.6(APC):c.2640C>T (p.Ile880=)
|
rs200184105
|
0.00014
|
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
|
NM_000038.6(APC):c.7109G>T (p.Gly2370Val)
|
rs140079759
|
0.00014
|
|
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)
|
rs199565861
|
0.00014
|
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
|
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)
|
rs200642204
|
0.00014
|
|
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)
|
rs369620062
|
0.00014
|
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
|
NM_000057.4(BLM):c.842A>C (p.His281Pro)
|
rs202042636
|
0.00014
|
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
|
NM_000093.5(COL5A1):c.3114+12G>C
|
rs528913410
|
0.00014
|
|
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00014
|
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
|
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr)
|
rs201433984
|
0.00014
|
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
|
NM_000169.3(GLA):c.-8C>G
|
rs371291716
|
0.00014
|
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
|
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)
|
rs145422395
|
0.00014
|
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
|
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)
|
rs104895196
|
0.00014
|
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
|
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=)
|
rs150292548
|
0.00014
|
|
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)
|
rs201595274
|
0.00014
|
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
|
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)
|
rs151141842
|
0.00014
|
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
|
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser)
|
rs368899583
|
0.00014
|
|
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)
|
rs9332966
|
0.00014
|
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
|
NM_000383.4(AIRE):c.1104G>A (p.Pro368=)
|
rs377079396
|
0.00014
|
|
NM_000384.3(APOB):c.10385A>G (p.Tyr3462Cys)
|
rs200305144
|
0.00014
|
|
NM_000388.4(CASR):c.546T>A (p.Ser182=)
|
rs200545177
|
0.00014
|
|
NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys)
|
rs201392911
|
0.00014
|
|
NM_000416.3(IFNGR1):c.85+56_85+74dup
|
rs1414548029
|
0.00014
|
|
NM_000419.5(ITGA2B):c.408+16C>T
|
rs377288289
|
0.00014
|
|
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=)
|
rs552265898
|
0.00014
|
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00014
|
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
|
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)
|
rs267607353
|
0.00014
|
|
NM_000552.5(VWF):c.6965A>T (p.Glu2322Val)
|
rs201792015
|
0.00014
|
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00014
|
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
|
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)
|
rs112795811
|
0.00014
|
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
|
NM_000719.7(CACNA1C):c.3209+12T>C
|
rs372982213
|
0.00014
|
|
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)
|
rs587781006
|
0.00014
|
|
NM_001025295.3(IFITM5):c.68C>T (p.Ala23Val)
|
rs552104680
|
0.00014
|
|
NM_001032283.3(TMPO):c.565+1469A>G
|
rs147812883
|
0.00014
|
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
|
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)
|
rs563219502
|
0.00014
|
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
|
NM_001103.4(ACTN2):c.615+15C>T
|
rs369293885
|
0.00014
|
|
NM_001105206.3(LAMA4):c.2977-16T>A
|
rs368833887
|
0.00014
|
|
NM_001110556.2(FLNA):c.2454C>T (p.Ala818=)
|
rs374672498
|
0.00014
|
|
NM_001110556.2(FLNA):c.4659C>T (p.Pro1553=)
|
rs375163471
|
0.00014
|
|
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)
|
rs150802299
|
0.00014
|
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
|
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
|
rs199766569
|
0.00014
|
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
|
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)
|
rs555854564
|
0.00014
|
|
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)
|
rs3731753
|
0.00014
|
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
|
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)
|
rs190058852
|
0.00014
|
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
|
NM_001267550.2(TTN):c.72720T>A (p.Val24240=)
|
rs550285671
|
0.00014
|
|
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)
|
rs537071956
|
0.00014
|
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
|
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)
|
rs72648225
|
0.00014
|
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
|
NM_001267550.2(TTN):c.97436G>A (p.Arg32479His)
|
rs369845358
|
0.00014
|
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
|
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)
|
rs766496010
|
0.00014
|
|
NM_001369268.1(ACAN):c.2203G>A (p.Glu735Lys)
|
rs202060628
|
0.00014
|
|
NM_001369369.1(FOXN1):c.1749del (p.Cys586fs)
|
rs773519376
|
0.00014
|
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
|
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=)
|
rs373013570
|
0.00014
|
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
|
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=)
|
rs141321284
|
0.00014
|
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00014
|
|
NM_001999.4(FBN2):c.7841-17C>T
|
rs371643668
|
0.00014
|
|
NM_002230.4(JUP):c.708-4C>G
|
rs201313464
|
0.00014
|
|
NM_002230.4(JUP):c.84G>A (p.Ser28=)
|
rs144137028
|
0.00014
|
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
|
NM_002303.6(LEPR):c.3423C>T (p.Tyr1141=)
|
rs193922651
|
0.00014
|
|
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)
|
rs201320326
|
0.00014
|
|
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser)
|
rs148962966
|
0.00014
|
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
|
NM_002471.4(MYH6):c.2429+14A>C
|
rs200817451
|
0.00014
|
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
|
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)
|
rs141440715
|
0.00014
|
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
|
NM_002880.4(RAF1):c.1587G>A (p.Ser529=)
|
rs114687276
|
0.00014
|
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
|
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
|
rs786205846
|
0.00014
|
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
|
NM_003937.3(KYNU):c.291-7A>G
|
rs369879960
|
0.00014
|
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
|
NM_004006.3(DMD):c.4876G>A (p.Val1626Met)
|
rs776998846
|
0.00014
|
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
|
NM_004239.4(TRIP11):c.5719+2T>C
|
rs199736345
|
0.00014
|
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
|
NM_004329.3(BMPR1A):c.676-6A>C
|
rs186999445
|
0.00014
|
|
NM_004333.6(BRAF):c.1141-12A>G
|
rs375704079
|
0.00014
|
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
|
NM_004655.4(AXIN2):c.1975C>T (p.Arg659Trp)
|
rs142670753
|
0.00014
|
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
|
NM_005502.4(ABCA1):c.3768G>A (p.Gly1256=)
|
rs140160885
|
0.00014
|
|
NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val)
|
rs200788099
|
0.00014
|
|
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)
|
rs144588452
|
0.00014
|
|
NM_005633.4(SOS1):c.1962G>A (p.Glu654=)
|
rs144382701
|
0.00014
|
|
NM_005732.4(RAD50):c.259C>T (p.Arg87Cys)
|
rs143802516
|
0.00014
|
|
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly)
|
rs149819328
|
0.00014
|
|
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)
|
rs77447750
|
0.00014
|
|
NM_005751.5(AKAP9):c.717G>A (p.Gln239=)
|
rs370346906
|
0.00014
|
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
|
NM_006231.4(POLE):c.6657+9T>C
|
rs375333174
|
0.00014
|
|
NM_006270.5(RRAS):c.344+6_344+7del
|
rs755223611
|
0.00014
|
|
NM_006506.5(RASA2):c.38C>T (p.Ser13Phe)
|
rs376313232
|
0.00014
|
|
NM_006767.4(LZTR1):c.1449+18C>G
|
rs369921461
|
0.00014
|
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
|
NM_006939.4(SOS2):c.2668-13T>C
|
rs368749459
|
0.00014
|
|
NM_007078.3(LDB3):c.897-14T>C
|
rs763081924
|
0.00014
|
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
|
NM_007294.4(BRCA1):c.5194-18G>T
|
rs80358090
|
0.00014
|
|
NM_012186.3(FOXE3):c.51T>C (p.Pro17=)
|
rs548368038
|
0.00014
|
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
|
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn)
|
rs201262082
|
0.00014
|
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
|
NM_015957.4(APIP):c.-95G>C
|
rs538595954
|
0.00014
|
|
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)
|
rs369627072
|
0.00014
|
|
NM_017617.5(NOTCH1):c.2354-5T>C
|
rs371944522
|
0.00014
|
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
|
NM_018136.5(ASPM):c.9294+2T>C
|
rs199503603
|
0.00014
|
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
|
NM_022081.6(HPS4):c.1621A>G (p.Met541Val)
|
rs202104505
|
0.00014
|
|
NM_024334.3(TMEM43):c.864C>T (p.His288=)
|
rs377585035
|
0.00014
|
|
NM_024422.6(DSC2):c.2226A>G (p.Thr742=)
|
rs142807209
|
0.00014
|
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
|
NM_030662.3(MAP2K2):c.*8C>T
|
rs377675706
|
0.00014
|
|
NM_030662.4(MAP2K2):c.529-12G>A
|
rs375701469
|
0.00014
|
|
NM_030662.4(MAP2K2):c.529-15C>T
|
rs778783152
|
0.00014
|
|
NM_030662.4(MAP2K2):c.580+15G>A
|
rs370921720
|
0.00014
|
|
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile)
|
rs138873805
|
0.00014
|
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
|
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)
|
rs876657827
|
0.00014
|
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
|
NM_032730.5(RTN4IP1):c.415C>T (p.Pro139Ser)
|
rs148788441
|
0.00014
|
|
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val)
|
rs121908107
|
0.00014
|
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
|
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)
|
rs146320279
|
0.00014
|
|
NM_053025.4(MYLK):c.3448+15G>A
|
rs199789942
|
0.00014
|
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
|
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)
|
rs371602931
|
0.00014
|
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
|
NM_138422.4(ADAT3):c.988G>A (p.Asp330Asn)
|
rs202206209
|
0.00014
|
|
NM_139027.6(ADAMTS13):c.539+7G>A
|
rs184864675
|
0.00014
|
|
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser)
|
rs376489465
|
0.00014
|
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
|
NM_144670.6(A2ML1):c.277G>T (p.Val93Leu)
|
rs775011475
|
0.00014
|
|
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)
|
rs151193009
|
0.00014
|
|
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met)
|
rs61755364
|
0.00014
|
|
NM_181507.2(HPS5):c.1514A>G (p.Asn505Ser)
|
rs143265437
|
0.00014
|
|
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe)
|
rs200142963
|
0.00014
|
|
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys)
|
rs148841895
|
0.00014
|
|
NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile)
|
rs202241126
|
0.00014
|
|
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
|
rs149042169
|
0.00014
|
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
|
NM_000039.3(APOA1):c.200+19G>A
|
rs377408912
|
0.00013
|
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
|
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)
|
rs121907993
|
0.00013
|
|
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)
|
rs202196488
|
0.00013
|
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
|
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=)
|
rs373134168
|
0.00013
|
|
NM_000071.3(CBS):c.1341C>T (p.Pro447=)
|
rs371493662
|
0.00013
|
|
NM_000071.3(CBS):c.489T>C (p.Tyr163=)
|
rs61735858
|
0.00013
|
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
|
NM_000075.4(CDK4):c.834T>C (p.Phe278=)
|
rs115576923
|
0.00013
|
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
|
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)
|
rs148542782
|
0.00013
|
|
NM_000123.4(ERCC5):c.739A>G (p.Ile247Val)
|
rs200504271
|
0.00013
|
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
|
NM_000157.4(GBA1):c.58A>G (p.Ile20Val)
|
rs143187997
|
0.00013
|
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
|
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro)
|
rs771048666
|
0.00013
|
|
NM_000179.3(MSH6):c.102C>A (p.Ala34=)
|
rs201132087
|
0.00013
|
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
|
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln)
|
rs61750162
|
0.00013
|
|
NM_000190.4(HMBS):c.33+15G>A
|
rs372520245
|
0.00013
|
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
|
NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro)
|
rs567021150
|
0.00013
|
|
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)
|
rs199473022
|
0.00013
|
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
|
NM_000277.3(PAH):c.65C>A (p.Thr22Lys)
|
rs199565868
|
0.00013
|
|
NM_000302.4(PLOD1):c.853C>T (p.Leu285=)
|
rs370663808
|
0.00013
|
|
NM_000302.4(PLOD1):c.975+14G>A
|
rs371184529
|
0.00013
|
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
|
NM_000337.6(SGCD):c.3+20G>A
|
rs187786098
|
0.00013
|
|
NM_000431.4(MVK):c.877G>A (p.Val293Met)
|
rs104895356
|
0.00013
|
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
|
NM_000484.4(APP):c.355+9G>A
|
rs371324252
|
0.00013
|
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
|
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe)
|
rs1330281974
|
0.00013
|
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
|
NM_000535.7(PMS2):c.240C>T (p.Phe80=)
|
rs143162541
|
0.00013
|
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
|
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)
|
rs147515913
|
0.00013
|
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
|
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val)
|
rs201934320
|
0.00013
|
|
NM_000552.5(VWF):c.1870G>A (p.Gly624Ser)
|
rs542226383
|
0.00013
|
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
|
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)
|
rs553500083
|
0.00013
|
|
NM_000732.6(CD3D):c.450+6C>T
|
rs193922617
|
0.00013
|
|
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)
|
rs759668768
|
0.00013
|
|
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)
|
rs148355179
|
0.00013
|
|
NM_001018115.3(FANCD2):c.2976+6T>C
|
rs201875004
|
0.00013
|
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
|
NM_001035.3(RYR2):c.3067-15T>C
|
rs185110433
|
0.00013
|
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
|
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)
|
rs182038403
|
0.00013
|
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
|
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile)
|
rs144575104
|
0.00013
|
|
NM_001042492.3(NF1):c.1599C>G (p.Val533=)
|
rs369458366
|
0.00013
|
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
|
NM_001042492.3(NF1):c.2838C>T (p.Asp946=)
|
rs147188807
|
0.00013
|
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
|
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln)
|
rs199691160
|
0.00013
|
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
|
NM_001085049.3(MRAS):c.488A>G (p.Asn163Ser)
|
rs536326964
|
0.00013
|
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
|
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247
|
0.00013
|
|
NM_001110792.2(MECP2):c.*13C>T
|
rs782334844
|
0.00013
|
|
NM_001110792.2(MECP2):c.771C>G (p.Val257=)
|
rs782027467
|
0.00013
|
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
|
NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=)
|
rs778124998
|
0.00013
|
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
|
NM_001142800.2(EYS):c.5038A>G (p.Asn1680Asp)
|
rs540546920
|
0.00013
|
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
|
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)
|
rs371568550
|
0.00013
|
|
NM_001164508.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890
|
0.00013
|
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
|
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe)
|
rs370080086
|
0.00013
|
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
|
NM_001354712.2(THRB):c.283+12T>C
|
rs372413180
|
0.00013
|
|
NM_001365999.1(SZT2):c.2228A>G (p.His743Arg)
|
rs545593466
|
0.00013
|
|
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His)
|
rs758123475
|
0.00013
|
|
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=)
|
rs374113689
|
0.00013
|
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
|
NM_001378454.1(ALMS1):c.646+15T>G
|
rs200821435
|
0.00013
|
|
NM_001395413.1(POR):c.335C>T (p.Ala112Val)
|
rs199634961
|
0.00013
|
|
NM_001458.5(FLNC):c.600C>T (p.Pro200=)
|
rs202105410
|
0.00013
|
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
|
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp)
|
rs202120238
|
0.00013
|
|
NM_002474.3(MYH11):c.3858+16G>C
|
rs370164910
|
0.00013
|
|
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln)
|
rs150883363
|
0.00013
|
|
NM_002474.3(MYH11):c.633+1900G>A
|
rs371799677
|
0.00013
|
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
|
NM_003098.3(SNTA1):c.311-20C>T
|
rs200764326
|
0.00013
|
|
NM_003239.5(TGFB3):c.88T>C (p.Leu30=)
|
rs3917145
|
0.00013
|
|
NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser)
|
rs199820445
|
0.00013
|
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
|
NM_004281.4(BAG3):c.1029C>A (p.Arg343=)
|
rs117972572
|
0.00013
|
|
NM_004333.6(BRAF):c.504+17A>G
|
rs201797624
|
0.00013
|
|
NM_004333.6(BRAF):c.723G>A (p.Thr241=)
|
rs369182143
|
0.00013
|
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
|
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=)
|
rs200055681
|
0.00013
|
|
NM_004614.5(TK2):c.415G>A (p.Ala139Thr)
|
rs138479499
|
0.00013
|
|
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His)
|
rs143986233
|
0.00013
|
|
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val)
|
rs150148125
|
0.00013
|
|
NM_005188.4(CBL):c.-5A>G
|
rs552214111
|
0.00013
|
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
|
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg)
|
rs990598927
|
0.00013
|
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
|
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)
|
rs141507912
|
0.00013
|
|
NM_005633.4(SOS1):c.214-10A>G
|
rs371447614
|
0.00013
|
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
|
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp)
|
rs371024396
|
0.00013
|
|
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)
|
rs148267537
|
0.00013
|
|
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)
|
rs13447324
|
0.00013
|
|
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)
|
rs13447325
|
0.00013
|
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
|
NM_006231.4(POLE):c.2935C>T (p.Leu979=)
|
rs56081968
|
0.00013
|
|
NM_006361.6(HOXB13):c.474G>A (p.Pro158=)
|
rs35033273
|
0.00013
|
|
NM_006767.4(LZTR1):c.1353+17G>A
|
rs372409921
|
0.00013
|
|
NM_006904.7(PRKDC):c.11591G>A (p.Arg3864His)
|
rs373169292
|
0.00013
|
|
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter)
|
rs138923214
|
0.00013
|
|
NM_006939.4(SOS2):c.195G>A (p.Arg65=)
|
rs1803661
|
0.00013
|
|
NM_006939.4(SOS2):c.2625A>T (p.Ala875=)
|
rs761442415
|
0.00013
|
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
|
NM_007078.3(LDB3):c.1956C>T (p.Asp652=)
|
rs139213290
|
0.00013
|
|
NM_007078.3(LDB3):c.714C>T (p.Ala238=)
|
rs727503125
|
0.00013
|
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
|
NM_007373.4(SHOC2):c.*16C>A
|
rs753327392
|
0.00013
|
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
|
NM_013975.4(LIG3):c.1835A>T (p.Glu612Val)
|
rs201705066
|
0.00013
|
|
NM_014000.3(VCL):c.1403C>T (p.Thr468Met)
|
rs147957747
|
0.00013
|
|
NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser)
|
rs376720108
|
0.00013
|
|
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met)
|
rs147369435
|
0.00013
|
|
NM_017668.3(NDE1):c.948-4464C>G
|
rs375979600
|
0.00013
|
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
|
NM_018112.3(TMEM38B):c.836C>A (p.Ser279Ter)
|
rs140344242
|
0.00013
|
|
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)
|
rs370243877
|
0.00013
|
|
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)
|
rs201379287
|
0.00013
|
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
|
NM_022124.6(CDH23):c.5187G>A (p.Thr1729=)
|
rs376386945
|
0.00013
|
|
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn)
|
rs372921526
|
0.00013
|
|
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val)
|
rs201574031
|
0.00013
|
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
|
NM_024675.4(PALB2):c.1641C>T (p.Thr547=)
|
rs564514783
|
0.00013
|
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
|
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln)
|
rs201110914
|
0.00013
|
|
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=)
|
rs368233443
|
0.00013
|
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
|
NM_033118.4(MYLK2):c.381G>A (p.Arg127=)
|
rs141524173
|
0.00013
|
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
|
NM_053025.4(MYLK):c.5046C>T (p.Asp1682=)
|
rs372695434
|
0.00013
|
|
NM_053025.4(MYLK):c.5535T>C (p.Asp1845=)
|
rs748934365
|
0.00013
|
|
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met)
|
rs144363917
|
0.00013
|
|
NM_080911.3(UNG):c.593A>G (p.His198Arg)
|
rs201388456
|
0.00013
|
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
|
NM_144670.6(A2ML1):c.2840C>T (p.Thr947Met)
|
rs199873022
|
0.00013
|
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
|
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met)
|
rs766814966
|
0.00013
|
|
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
|
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys)
|
rs201395805
|
0.00013
|
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
|
NM_201596.3(CACNB2):c.306G>A (p.Gln102=)
|
rs571930944
|
0.00013
|
|
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)
|
rs63750082
|
0.00012
|
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
|
NM_000038.6(APC):c.2204C>T (p.Ala735Val)
|
rs147655929
|
0.00012
|
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
|
NM_000059.4(BRCA2):c.7278T>A (p.Ile2426=)
|
rs372377916
|
0.00012
|
|
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)
|
rs146837092
|
0.00012
|
|
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe)
|
rs66583685
|
0.00012
|
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
|
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00012
|
|
NM_000132.4(F8):c.222G>A (p.Thr74=)
|
rs1232517683
|
0.00012
|
|
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val)
|
rs550821697
|
0.00012
|
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
|
NM_000170.3(GLDC):c.635+16A>G
|
rs182471927
|
0.00012
|
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
|
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)
|
rs190765116
|
0.00012
|
|
NM_000256.3(MYBPC3):c.666C>T (p.Phe222=)
|
rs371331114
|
0.00012
|
|
NM_000257.4(MYH7):c.4953+17G>A
|
rs376604168
|
0.00012
|
|
NM_000258.3(MYL3):c.559+19G>A
|
rs552393482
|
0.00012
|
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
|
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn)
|
rs202127217
|
0.00012
|
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
|
NM_000382.3(ALDH3A2):c.128C>T (p.Thr43Met)
|
rs112971072
|
0.00012
|
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
|
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)
|
rs373997222
|
0.00012
|
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
|
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)
|
rs193922545
|
0.00012
|
|
NM_000517.6(HBA2):c.409C>A (p.Leu137Met)
|
rs41364652
|
0.00012
|
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
|
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met)
|
rs148134639
|
0.00012
|
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
0.00012
|
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
|
NM_001035.3(RYR2):c.7824+20G>A
|
rs373240466
|
0.00012
|
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
|
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
|
rs200631005
|
0.00012
|
|
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser)
|
rs61749731
|
0.00012
|
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
|
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val)
|
rs149384863
|
0.00012
|
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
|
NM_001267550.2(TTN):c.15218-17C>T
|
rs192438325
|
0.00012
|
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00012
|
|
NM_001267550.2(TTN):c.24505+13C>T
|
rs534803807
|
0.00012
|
|
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=)
|
rs370604793
|
0.00012
|
|
NM_001267550.2(TTN):c.29313C>T (p.Cys9771=)
|
rs375017037
|
0.00012
|
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
|
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)
|
rs115303497
|
0.00012
|
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00012
|
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
|
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr)
|
rs142478636
|
0.00012
|
|
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser)
|
rs201336927
|
0.00012
|
|
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys)
|
rs146942592
|
0.00012
|
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
|
NM_001365308.1(BMPER):c.1792T>C (p.Tyr598His)
|
rs570211162
|
0.00012
|
|
NM_001369268.1(ACAN):c.1975C>G (p.Gln659Glu)
|
rs181923062
|
0.00012
|
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
|
NM_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile)
|
rs376545196
|
0.00012
|
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
|
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=)
|
rs201316401
|
0.00012
|
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
|
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)
|
rs864622513
|
0.00012
|
|
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)
|
rs375150574
|
0.00012
|
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
|
NM_002473.6(MYH9):c.504A>G (p.Gln168=)
|
rs760974197
|
0.00012
|
|
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)
|
rs368614463
|
0.00012
|
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
|
NM_003042.4(SLC6A1):c.1191+8_1191+9insA
|
rs761247510
|
0.00012
|
|
NM_003238.6(TGFB2):c.648G>A (p.Arg216=)
|
rs767503001
|
0.00012
|
|
NM_003332.4(TYROBP):c.310G>A (p.Asp104Asn)
|
rs377005575
|
0.00012
|
|
NM_003573.2(LTBP4):c.25T>C (p.Phe9Leu)
|
rs769281501
|
0.00012
|
|
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln)
|
rs552865793
|
0.00012
|
|
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)
|
rs539087982
|
0.00012
|
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
|
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)
|
rs369930821
|
0.00012
|
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
|
NM_004415.4(DSP):c.2134G>A (p.Val712Met)
|
rs397516922
|
0.00012
|
|
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)
|
rs147146713
|
0.00012
|
|
NM_004937.3(CTNS):c.480C>T (p.Phe160=)
|
rs147565118
|
0.00012
|
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
|
NM_005188.4(CBL):c.1459A>G (p.Met487Val)
|
rs17848896
|
0.00012
|
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
|
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His)
|
rs16829216
|
0.00012
|
|
NM_005359.6(SMAD4):c.582A>G (p.Thr194=)
|
rs145805120
|
0.00012
|
|
NM_005502.4(ABCA1):c.66+9G>T
|
rs562165874
|
0.00012
|
|
NM_005559.4(LAMA1):c.858+1G>T
|
rs141914419
|
0.00012
|
|
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val)
|
rs748622672
|
0.00012
|
|
NM_005751.5(AKAP9):c.5058+12T>G
|
rs373705132
|
0.00012
|
|
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val)
|
rs776534749
|
0.00012
|
|
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=)
|
rs187636159
|
0.00012
|
|
NM_006506.5(RASA2):c.1422C>T (p.Cys474=)
|
rs137996961
|
0.00012
|
|
NM_006767.4(LZTR1):c.1449+3G>A
|
rs369605093
|
0.00012
|
|
NM_006767.4(LZTR1):c.264-14C>T
|
rs199963374
|
0.00012
|
|
NM_006767.4(LZTR1):c.351C>T (p.Pro117=)
|
rs202066345
|
0.00012
|
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
|
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
|
rs200208472
|
0.00012
|
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
|
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=)
|
rs138493864
|
0.00012
|
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
|
NM_014780.5(CUL7):c.25G>C (p.Glu9Gln)
|
rs375192347
|
0.00012
|
|
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)
|
rs146122441
|
0.00012
|
|
NM_015909.4(NBAS):c.1648G>T (p.Gly550Cys)
|
rs571873632
|
0.00012
|
|
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=)
|
rs112355691
|
0.00012
|
|
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=)
|
rs763584589
|
0.00012
|
|
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)
|
rs113994022
|
0.00012
|
|
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly)
|
rs200325360
|
0.00012
|
|
NM_020778.5(ALPK3):c.3735C>T (p.Gly1245=)
|
rs760971774
|
0.00012
|
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
|
NM_021927.3(GUF1):c.1432A>G (p.Ile478Val)
|
rs142349872
|
0.00012
|
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
|
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp)
|
rs186332019
|
0.00012
|
|
NM_030662.4(MAP2K2):c.581-8G>A
|
rs369262004
|
0.00012
|
|
NM_032040.5(CCDC8):c.1555del (p.Arg519fs)
|
rs745914961
|
0.00012
|
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
|
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)
|
rs144923036
|
0.00012
|
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
|
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)
|
rs146682969
|
0.00012
|
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
|
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)
|
rs138031155
|
0.00012
|
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
|
NM_152783.5(D2HGDH):c.997+6G>A
|
rs749247772
|
0.00012
|
|
NM_174936.4(PCSK9):c.1355-16C>G
|
rs28385713
|
0.00012
|
|
NM_194248.3(OTOF):c.2523+5G>A
|
rs201745796
|
0.00012
|
|
NM_199242.3(UNC13D):c.2191G>A (p.Val731Met)
|
rs377549461
|
0.00012
|
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
|
NM_000038.6(APC):c.7137C>G (p.Thr2379=)
|
rs141454910
|
0.00011
|
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
|
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)
|
rs369940136
|
0.00011
|
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
|
NM_000051.4(ATM):c.6348-8T>C
|
rs730881292
|
0.00011
|
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
|
NM_000051.4(ATM):c.8154C>T (p.Gly2718=)
|
rs371021126
|
0.00011
|
|
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr)
|
rs370203816
|
0.00011
|
|
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=)
|
rs370476756
|
0.00011
|
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00011
|
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
|
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=)
|
rs587780531
|
0.00011
|
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
|
NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=)
|
rs368404583
|
0.00011
|
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
|
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)
|
rs187054121
|
0.00011
|
|
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp)
|
rs376026619
|
0.00011
|
|
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)
|
rs193922150
|
0.00011
|
|
NM_000089.4(COL1A2):c.2782-19T>G
|
rs193922164
|
0.00011
|
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
|
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)
|
rs200984988
|
0.00011
|
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
|
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=)
|
rs143794669
|
0.00011
|
|
NM_000096.4(CP):c.1493A>G (p.Gln498Arg)
|
rs17847018
|
0.00011
|
|
NM_000098.3(CPT2):c.45G>T (p.Ala15=)
|
rs761850684
|
0.00011
|
|
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)
|
rs56339482
|
0.00011
|
|
NM_000111.3(SLC26A3):c.1193C>T (p.Ser398Phe)
|
rs143839547
|
0.00011
|
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
|
NM_000138.5(FBN1):c.3964+12C>T
|
rs371986991
|
0.00011
|
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
|
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)
|
rs184636161
|
0.00011
|
|
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)
|
rs199473348
|
0.00011
|
|
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=)
|
rs374296728
|
0.00011
|
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
|
NM_000251.3(MSH2):c.1386+94A>G
|
rs546035846
|
0.00011
|
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
0.00011
|
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
|
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)
|
rs374289523
|
0.00011
|
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
|
NM_000335.5(SCN5A):c.5130C>T (p.Ala1710=)
|
rs377478501
|
0.00011
|
|
NM_000335.5(SCN5A):c.5181C>T (p.Cys1727=)
|
rs193922726
|
0.00011
|
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
|
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)
|
rs144705160
|
0.00011
|
|
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu)
|
rs121918720
|
0.00011
|
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
|
NM_000393.5(COL5A2):c.906+9A>G
|
rs761662868
|
0.00011
|
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
|
NM_000432.4(MYL2):c.33G>A (p.Gly11=)
|
rs199742269
|
0.00011
|
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
|
NM_000455.5(STK11):c.900C>T (p.Ile300=)
|
rs546089394
|
0.00011
|
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
|
NM_000484.4(APP):c.225+14G>A
|
rs199644062
|
0.00011
|
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
0.00011
|
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
|
NM_000492.4(CFTR):c.738G>A (p.Lys246=)
|
rs35033453
|
0.00011
|
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
|
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr)
|
rs201016820
|
0.00011
|
|
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile)
|
rs566065375
|
0.00011
|
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
|
NM_000521.4(HEXB):c.978G>C (p.Leu326=)
|
rs138261300
|
0.00011
|
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
|
NM_000535.7(PMS2):c.1248C>A (p.Ser416=)
|
rs780709321
|
0.00011
|
|
NM_000535.7(PMS2):c.1533G>A (p.Thr511=)
|
rs542520309
|
0.00011
|
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
|
NM_000545.8(HNF1A):c.1624-19G>A
|
rs193922586
|
0.00011
|
|
NM_000546.6(TP53):c.217G>A (p.Val73Met)
|
rs587782423
|
0.00011
|
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
|
NM_000631.5(NCF4):c.758+50C>T
|
rs201021542
|
0.00011
|
|
NM_000642.3(AGL):c.341G>A (p.Arg114His)
|
rs150146360
|
0.00011
|
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
|
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)
|
rs75326924
|
0.00011
|
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
|
NM_001017995.3(SH3PXD2B):c.262C>T (p.Arg88Trp)
|
rs191035319
|
0.00011
|
|
NM_001025356.3(ANO6):c.1387-1G>T
|
rs374664255
|
0.00011
|
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
|
NM_001035.3(RYR2):c.8208+15A>G
|
rs142975943
|
0.00011
|
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
|
NM_001042492.3(NF1):c.1005T>C (p.Asn335=)
|
rs777369021
|
0.00011
|
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
|
NM_001048174.2(MUTYH):c.132G>A (p.Pro44=)
|
rs144551668
|
0.00011
|
|
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)
|
rs143796254
|
0.00011
|
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
|
NM_001099287.2(NIPAL4):c.890T>C (p.Ile297Thr)
|
rs369432304
|
0.00011
|
|
NM_001103.4(ACTN2):c.1974+10C>T
|
rs368354944
|
0.00011
|
|
NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met)
|
rs371366175
|
0.00011
|
|
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=)
|
rs368746337
|
0.00011
|
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
|
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)
|
rs148124447
|
0.00011
|
|
NM_001139.3(ALOX12B):c.56G>A (p.Arg19Gln)
|
rs140795969
|
0.00011
|
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
|
NM_001148.6(ANK2):c.792+15A>G
|
rs375914552
|
0.00011
|
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
|
NM_001257180.2(SLC20A2):c.295G>A (p.Ala99Thr)
|
rs149761291
|
0.00011
|
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
|
NM_001267550.2(TTN):c.15775+14C>T
|
rs151057960
|
0.00011
|
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
|
NM_001267550.2(TTN):c.45617-13C>T
|
rs570853409
|
0.00011
|
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
|
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)
|
rs747908048
|
0.00011
|
|
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)
|
rs116142642
|
0.00011
|
|
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)
|
rs775137607
|
0.00011
|
|
NM_001267550.2(TTN):c.63233A>C (p.Lys21078Thr)
|
rs879227779
|
0.00011
|
|
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)
|
rs745992545
|
0.00011
|
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
|
NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala)
|
rs777656293
|
0.00011
|
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
|
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr)
|
rs150667550
|
0.00011
|
|
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)
|
rs201874056
|
0.00011
|
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
|
NM_001379500.1(COL18A1):c.2744G>A (p.Arg915Gln)
|
rs570708678
|
0.00011
|
|
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)
|
rs750326949
|
0.00011
|
|
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)
|
rs540100675
|
0.00011
|
|
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)
|
rs546381069
|
0.00011
|
|
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)
|
rs150774756
|
0.00011
|
|
NM_001846.4(COL4A2):c.1978+4T>C
|
rs372577230
|
0.00011
|
|
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=)
|
rs369265343
|
0.00011
|
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
|
NM_001927.4(DES):c.897+16C>T
|
rs370385097
|
0.00011
|
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
|
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)
|
rs200735968
|
0.00011
|
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
|
NM_002230.4(JUP):c.*3G>A
|
rs201552065
|
0.00011
|
|
NM_002317.7(LOX):c.916C>T (p.Leu306=)
|
rs368947781
|
0.00011
|
|
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys)
|
rs113804402
|
0.00011
|
|
NM_002361.4(MAG):c.1292T>A (p.Leu431Gln)
|
rs199969989
|
0.00011
|
|
NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr)
|
rs138419275
|
0.00011
|
|
NM_002471.4(MYH6):c.2574C>T (p.Phe858=)
|
rs148596692
|
0.00011
|
|
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)
|
rs373629059
|
0.00011
|
|
NM_002471.4(MYH6):c.678C>T (p.Pro226=)
|
rs768893926
|
0.00011
|
|
NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met)
|
rs201391947
|
0.00011
|
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
|
NM_002474.3(MYH11):c.405G>A (p.Ser135=)
|
rs375649016
|
0.00011
|
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
|
NM_002485.5(NBN):c.279G>A (p.Ser93=)
|
rs587780781
|
0.00011
|
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
|
NM_002691.4(POLD1):c.1785C>T (p.Asp595=)
|
rs769563176
|
0.00011
|
|
NM_002691.4(POLD1):c.645G>A (p.Ala215=)
|
rs377058651
|
0.00011
|
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
|
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)
|
rs372669687
|
0.00011
|
|
NM_002734.5(PRKAR1A):c.483A>G (p.Gly161=)
|
rs141518491
|
0.00011
|
|
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=)
|
rs138466751
|
0.00011
|
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
|
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr)
|
rs149968229
|
0.00011
|
|
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr)
|
rs370049091
|
0.00011
|
|
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)
|
rs377412651
|
0.00011
|
|
NM_004333.6(BRAF):c.36G>A (p.Ala12=)
|
rs397507454
|
0.00011
|
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004360.5(CDH1):c.2643C>T (p.Asp881=)
|
rs114708971
|
0.00011
|
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
0.00011
|
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
|
NM_004612.4(TGFBR1):c.973+19C>A
|
rs183796807
|
0.00011
|
|
NM_004628.5(XPC):c.1178G>A (p.Arg393Gln)
|
rs376220736
|
0.00011
|
|
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)
|
rs141340466
|
0.00011
|
|
NM_005188.4(CBL):c.1432-6C>T
|
rs371919794
|
0.00011
|
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
|
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu)
|
rs534355764
|
0.00011
|
|
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
|
rs121913611
|
0.00011
|
|
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=)
|
rs143299210
|
0.00011
|
|
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met)
|
rs146363463
|
0.00011
|
|
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)
|
rs373319212
|
0.00011
|
|
NM_005908.4(MANBA):c.530A>G (p.His177Arg)
|
rs750914797
|
0.00011
|
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
|
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)
|
rs370444838
|
0.00011
|
|
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)
|
rs121918342
|
0.00011
|
|
NM_006231.4(POLE):c.3763T>C (p.Leu1255=)
|
rs745838504
|
0.00011
|
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
|
NM_006231.4(POLE):c.6050G>A (p.Arg2017His)
|
rs144178150
|
0.00011
|
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
|
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=)
|
rs374834674
|
0.00011
|
|
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=)
|
rs374202731
|
0.00011
|
|
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
|
rs369588682
|
0.00011
|
|
NM_006506.5(RASA2):c.1641T>C (p.Thr547=)
|
rs148158856
|
0.00011
|
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
|
NM_006767.4(LZTR1):c.1149+16C>A
|
rs200517966
|
0.00011
|
|
NM_006767.4(LZTR1):c.2205G>A (p.Pro735=)
|
rs368690209
|
0.00011
|
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
|
NM_007078.3(LDB3):c.897-16G>C
|
rs45513100
|
0.00011
|
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
|
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=)
|
rs369373293
|
0.00011
|
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
|
NM_007294.4(BRCA1):c.441+18C>T
|
rs371973519
|
0.00011
|
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
|
NM_007294.4(BRCA1):c.5278-20C>T
|
rs193149108
|
0.00011
|
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
|
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile)
|
rs138375593
|
0.00011
|
|
NM_012114.3(CASP14):c.449T>A (p.Met150Lys)
|
rs370502147
|
0.00011
|
|
NM_013975.4(LIG3):c.2825G>A (p.Arg942Gln)
|
rs200974999
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)
|
rs150535792
|
0.00011
|
|
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)
|
rs775006954
|
0.00011
|
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
|
NM_014714.4(IFT140):c.634+6G>C
|
rs368229365
|
0.00011
|
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
|
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln)
|
rs184241759
|
0.00011
|
|
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met)
|
rs375101491
|
0.00011
|
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
|
NM_015681.6(B9D1):c.479G>A (p.Arg160His)
|
rs538949071
|
0.00011
|
|
NM_016589.4(TIMMDC1):c.597-1340A>G
|
rs781525096
|
0.00011
|
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
|
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)
|
rs121918208
|
0.00011
|
|
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)
|
rs149189246
|
0.00011
|
|
NM_018941.4(CLN8):c.599T>C (p.Met200Thr)
|
rs368646951
|
0.00011
|
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
|
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys)
|
rs200019717
|
0.00011
|
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
|
NM_020632.3(ATP6V0A4):c.1029+5G>A
|
rs147476317
|
0.00011
|
|
NM_020778.5(ALPK3):c.5064G>A (p.Leu1688=)
|
rs115813516
|
0.00011
|
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
|
NM_020975.6(RET):c.2601G>T (p.Glu867Asp)
|
rs141459368
|
0.00011
|
|
NM_020975.6(RET):c.337+11C>T
|
rs754967305
|
0.00011
|
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00011
|
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
|
NM_024334.3(TMEM43):c.429G>A (p.Thr143=)
|
rs201217046
|
0.00011
|
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_024675.4(PALB2):c.1455T>G (p.Thr485=)
|
rs566105533
|
0.00011
|
|
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
|
rs200875161
|
0.00011
|
|
NM_024809.5(TCTN2):c.1234+5C>G
|
rs201382614
|
0.00011
|
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
|
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr)
|
rs202024965
|
0.00011
|
|
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=)
|
rs143275018
|
0.00011
|
|
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr)
|
rs147710229
|
0.00011
|
|
NM_032040.5(CCDC8):c.1609C>T (p.Gln537Ter)
|
rs144181069
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
|
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
|
rs748758201
|
0.00011
|
|
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)
|
rs137901165
|
0.00011
|
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
|
NM_053025.4(MYLK):c.4983C>T (p.Phe1661=)
|
rs367656778
|
0.00011
|
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
|
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=)
|
rs367969368
|
0.00011
|
|
NM_139276.3(STAT3):c.1234-4dup
|
rs763332844
|
0.00011
|
|
NM_139276.3(STAT3):c.2082T>A (p.His694Gln)
|
rs139701269
|
0.00011
|
|
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr)
|
rs201363860
|
0.00011
|
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
0.00011
|
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
|
NM_152783.5(D2HGDH):c.685-2A>G
|
rs753528947
|
0.00011
|
|
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)
|
rs202048210
|
0.00011
|
|
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
|
rs558663132
|
0.00011
|
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
|
NM_177924.5(ASAH1):c.219A>G (p.Leu73=)
|
rs141785977
|
0.00011
|
|
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys)
|
rs752331372
|
0.00011
|
|
NM_198569.3(ADGRG6):c.2143G>A (p.Gly715Arg)
|
rs372427661
|
0.00011
|
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
|
NM_000038.6(APC):c.4669A>G (p.Ile1557Val)
|
rs763578917
|
0.00010
|
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
|
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)
|
rs375754332
|
0.00010
|
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
|
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=)
|
rs193922105
|
0.00010
|
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00010
|
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
|
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)
|
rs574039421
|
0.00010
|
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
|
NM_000059.4(BRCA2):c.7239A>G (p.Lys2413=)
|
rs763727386
|
0.00010
|
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
|
NM_000070.3(CAPN3):c.1524+3G>A
|
rs374188055
|
0.00010
|
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
|
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)
|
rs773734233
|
0.00010
|
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
|
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=)
|
rs546300971
|
0.00010
|
|
NM_000089.4(COL1A2):c.486+15A>G
|
rs193922171
|
0.00010
|
|
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=)
|
rs745633063
|
0.00010
|
|
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)
|
rs148006741
|
0.00010
|
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
|
NM_000124.4(ERCC6):c.565A>G (p.Thr189Ala)
|
rs138822457
|
0.00010
|
|
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu)
|
rs141946827
|
0.00010
|
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
|
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)
|
rs200785120
|
0.00010
|
|
NM_000171.4(GLRA1):c.89G>A (p.Arg30His)
|
rs199910297
|
0.00010
|
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
|
NM_000251.3(MSH2):c.2210+7G>T
|
rs374675118
|
0.00010
|
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
|
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
|
rs528078207
|
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_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
|
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)
|
rs200413804
|
0.00010
|
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
|
NM_000335.5(SCN5A):c.*1G>A
|
rs375282305
|
0.00010
|
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
|
NM_000344.4(SMN1):c.*1G>A
|
rs763144752
|
0.00010
|
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
|
NM_000383.4(AIRE):c.1450G>A (p.Val484Met)
|
rs367966318
|
0.00010
|
|
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu)
|
rs193922417
|
0.00010
|
|
NM_000384.3(APOB):c.10575C>T (p.Ser3525=)
|
rs142573551
|
0.00010
|
|
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)
|
rs376556895
|
0.00010
|
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
|
NM_000432.4(MYL2):c.274+9G>A
|
rs371405579
|
0.00010
|
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
|
NM_000441.2(SLC26A4):c.415+4A>G
|
rs368280107
|
0.00010
|
|
NM_000451.4(SHOX):c.545-10T>C
|
rs370327147
|
0.00010
|
|
NM_000451.4(SHOX):c.698C>T (p.Ala233Val)
|
rs750375727
|
0.00010
|
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
|
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met)
|
rs397508359
|
0.00010
|
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
0.00010
|
|
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)
|
rs565971160
|
0.00010
|
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
|
NM_000518.5(HBB):c.*65C>G
|
rs1490059160
|
0.00010
|
|
NM_000531.6(OTC):c.127C>A (p.Leu43Ile)
|
rs72554309
|
0.00010
|
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
|
NM_000540.3(RYR1):c.2786+20G>A
|
rs71337552
|
0.00010
|
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
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_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
|
NM_001040151.2(SCN3B):c.105C>T (p.Ala35=)
|
rs368979661
|
0.00010
|
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
|
NM_001048174.2(MUTYH):c.-6-7G>A
|
rs780029247
|
0.00010
|
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
|
NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu)
|
rs769766446
|
0.00010
|
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
|
NM_001080517.3(SETD5):c.2426A>G (p.Tyr809Cys)
|
rs1270531724
|
0.00010
|
|
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu)
|
rs201374966
|
0.00010
|
|
NM_001085049.3(MRAS):c.*8G>C
|
rs756972675
|
0.00010
|
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
|
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
|
rs781881872
|
0.00010
|
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
|
NM_001135022.2(ELMOD3):c.298C>T (p.Gln100Ter)
|
rs753265000
|
0.00010
|
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
|
NM_001148.6(ANK2):c.8673C>T (p.Pro2891=)
|
rs374884110
|
0.00010
|
|
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln)
|
rs150226540
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.871+6C>T
|
rs377101167
|
0.00010
|
|
NM_001206744.2(TPO):c.2422del (p.Cys808fs)
|
rs763662774
|
0.00010
|
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00010
|
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
|
NM_001267550.2(TTN):c.33286C>T (p.Arg11096Cys)
|
rs377710763
|
0.00010
|
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
|
NM_001267550.2(TTN):c.59736T>C (p.Tyr19912=)
|
rs184969946
|
0.00010
|
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
|
NM_001267550.2(TTN):c.76047T>C (p.Ile25349=)
|
rs369320393
|
0.00010
|
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
|
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala)
|
rs200240728
|
0.00010
|
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
|
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)
|
rs397517727
|
0.00010
|
|
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)
|
rs183238138
|
0.00010
|
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
|
NM_001267550.2(TTN):c.92595A>G (p.Leu30865=)
|
rs192086736
|
0.00010
|
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
|
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser)
|
rs143084654
|
0.00010
|
|
NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr)
|
rs273585624
|
0.00010
|
|
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)
|
rs368783097
|
0.00010
|
|
NM_001370259.2(MEN1):c.492C>T (p.Ala164=)
|
rs146759807
|
0.00010
|
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
|
NM_001458.5(FLNC):c.1813+12G>A
|
rs750404224
|
0.00010
|
|
NM_001458.5(FLNC):c.4952-9G>T
|
rs747821376
|
0.00010
|
|
NM_001458.5(FLNC):c.602-11C>T
|
rs371111092
|
0.00010
|
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
|
NM_001711.6(BGN):c.838C>T (p.Arg280Trp)
|
rs370486954
|
0.00010
|
|
NM_001844.5(COL2A1):c.1996-10C>T
|
rs144804336
|
0.00010
|
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
|
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)
|
rs748090636
|
0.00010
|
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
|
NM_002471.4(MYH6):c.420C>T (p.Ala140=)
|
rs145023897
|
0.00010
|
|
NM_002474.3(MYH11):c.2520+15C>G
|
rs199771313
|
0.00010
|
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
|
NM_002691.4(POLD1):c.102C>T (p.Phe34=)
|
rs754716741
|
0.00010
|
|
NM_002691.4(POLD1):c.666G>A (p.Pro222=)
|
rs746678748
|
0.00010
|
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
|
NM_002755.4(MAP2K1):c.439-19C>A
|
rs766207567
|
0.00010
|
|
NM_002769.5(PRSS1):c.*8A>G
|
rs750733084
|
0.00010
|
|
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys)
|
rs111033564
|
0.00010
|
|
NM_002769.5(PRSS1):c.283C>T (p.Arg95Cys)
|
rs201775810
|
0.00010
|
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
|
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
|
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)
|
rs758883184
|
0.00010
|
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809
|
0.00010
|
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
|
NM_003849.4(SUCLG1):c.22G>T (p.Ala8Ser)
|
rs374871796
|
0.00010
|
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
0.00010
|
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
|
NM_004360.5(CDH1):c.2451G>A (p.Ala817=)
|
rs149450874
|
0.00010
|
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
|
NM_004415.4(DSP):c.987G>A (p.Leu329=)
|
rs564435126
|
0.00010
|
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
|
NM_004655.4(AXIN2):c.1181G>A (p.Arg394His)
|
rs200899695
|
0.00010
|
|
NM_004793.4(LONP1):c.2282C>T (p.Pro761Leu)
|
rs373182816
|
0.00010
|
|
NM_004998.4(MYO1E):c.1513C>A (p.His505Asn)
|
rs139820649
|
0.00010
|
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
|
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr)
|
rs141710973
|
0.00010
|
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
|
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu)
|
rs781686740
|
0.00010
|
|
NM_005633.4(SOS1):c.2165G>A (p.Arg722Lys)
|
rs142666652
|
0.00010
|
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
|
NM_005732.4(RAD50):c.204C>T (p.His68=)
|
rs28903084
|
0.00010
|
|
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)
|
rs181961360
|
0.00010
|
|
NM_005902.4(SMAD3):c.207-13C>T
|
rs200548744
|
0.00010
|
|
NM_005902.4(SMAD3):c.457C>T (p.Leu153=)
|
rs145380987
|
0.00010
|
|
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)
|
rs371263807
|
0.00010
|
|
NM_006231.4(POLE):c.556G>A (p.Ala186Thr)
|
rs375213599
|
0.00010
|
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
|
NM_006517.5(SLC16A2):c.23G>A (p.Ser8Asn)
|
rs746783950
|
0.00010
|
|
NM_006767.4(LZTR1):c.263+7G>A
|
rs185749722
|
0.00010
|
|
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala)
|
rs550680554
|
0.00010
|
|
NM_007078.3(LDB3):c.273G>A (p.Thr91=)
|
rs45613039
|
0.00010
|
|
NM_007078.3(LDB3):c.891G>A (p.Arg297=)
|
rs374336814
|
0.00010
|
|
NM_012448.4(STAT5B):c.2161G>A (p.Gly721Ser)
|
rs750095303
|
0.00010
|
|
NM_013975.4(LIG3):c.2316C>T (p.Ile772=)
|
rs775019742
|
0.00010
|
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
|
NM_014391.3(ANKRD1):c.750+17G>A
|
rs373898620
|
0.00010
|
|
NM_014491.4(FOXP2):c.1095-4T>G
|
rs370836051
|
0.00010
|
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
|
NM_015559.3(SETBP1):c.987T>C (p.Pro329=)
|
rs371212525
|
0.00010
|
|
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met)
|
rs144615326
|
0.00010
|
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
|
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=)
|
rs536479643
|
0.00010
|
|
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)
|
rs61751559
|
0.00010
|
|
NM_017952.6(PTCD3):c.805-3C>T
|
rs199732602
|
0.00010
|
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
|
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His)
|
rs367592401
|
0.00010
|
|
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala)
|
rs759254680
|
0.00010
|
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_024747.6(HPS6):c.2326T>C (p.Ter776Arg)
|
rs200206362
|
0.00010
|
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_032119.4(ADGRV1):c.11581-2dup
|
rs745783842
|
0.00010
|
|
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met)
|
rs199552258
|
0.00010
|
|
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)
|
rs561640998
|
0.00010
|
|
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=)
|
rs374233822
|
0.00010
|
|
NM_033337.3(CAV3):c.168C>T (p.Gly56=)
|
rs116840774
|
0.00010
|
|
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln)
|
rs773391076
|
0.00010
|
|
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs)
|
rs759052246
|
0.00010
|
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
|
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=)
|
rs201470211
|
0.00010
|
|
NM_144997.7(FLCN):c.1538+10A>C
|
rs12451312
|
0.00010
|
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
|
NM_152594.3(SPRED1):c.177T>C (p.Phe59=)
|
rs397517871
|
0.00010
|
|
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)
|
rs200157475
|
0.00010
|
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
|
NM_172245.4(CSF2RA):c.681T>C (p.Arg227=)
|
rs186487689
|
0.00010
|
|
NM_181507.2(HPS5):c.1127C>T (p.Thr376Ile)
|
rs764861032
|
0.00010
|
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
|
NM_201384.3(PLEC):c.12597C>T (p.Ser4199=)
|
rs368889216
|
0.00010
|
|
NM_201596.3(CACNB2):c.1140T>C (p.His380=)
|
rs151199943
|
0.00010
|
|
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)
|
rs191582628
|
0.00010
|
|
NR_003051.4(RMRP):n.244A>G
|
rs551450545
|
0.00010
|
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
|
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)
|
rs192525493
|
0.00009
|
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
|
NM_000038.6(APC):c.1958+10G>T
|
rs375175370
|
0.00009
|
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00009
|
|
NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
|
rs147411334
|
0.00009
|
|
NM_000038.6(APC):c.5025T>G (p.Val1675=)
|
rs876658169
|
0.00009
|
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
|
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
|
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=)
|
rs764441090
|
0.00009
|
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
|
NM_000055.4(BCHE):c.676A>G (p.Ser226Gly)
|
rs370077923
|
0.00009
|
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
|
NM_000059.4(BRCA2):c.*14C>T
|
rs373436334
|
0.00009
|
|
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)
|
rs55881945
|
0.00009
|
|
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)
|
rs80358443
|
0.00009
|
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
|
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=)
|
rs730881590
|
0.00009
|
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
|
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=)
|
rs45484897
|
0.00009
|
|
NM_000059.4(BRCA2):c.516+18T>C
|
rs81002834
|
0.00009
|
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
|
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys)
|
rs431825347
|
0.00009
|
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
|
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro)
|
rs372481694
|
0.00009
|
|
NM_000077.5(CDKN2A):c.87G>A (p.Arg29=)
|
rs540871544
|
0.00009
|
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
|
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)
|
rs59472972
|
0.00009
|
|
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)
|
rs148515772
|
0.00009
|
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00009
|
|
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)
|
rs370346767
|
0.00009
|
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
0.00009
|
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
|
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
|
rs111033608
|
0.00009
|
|
NM_000154.2(GALK1):c.743G>A (p.Arg248Gln)
|
rs368904895
|
0.00009
|
|
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)
|
rs398123531
|
0.00009
|
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
|
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val)
|
rs150833015
|
0.00009
|
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
|
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)
|
rs587780675
|
0.00009
|
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
|
NM_000218.3(KCNQ1):c.1033-12A>G
|
rs200423553
|
0.00009
|
|
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=)
|
rs200692436
|
0.00009
|
|
NM_000238.4(KCNH2):c.2145+9A>T
|
rs371749379
|
0.00009
|
|
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys)
|
rs199472880
|
0.00009
|
|
NM_000243.3(MEFV):c.198C>T (p.Ala66=)
|
rs149380763
|
0.00009
|
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
|
NM_000251.3(MSH2):c.2367C>T (p.Ala789=)
|
rs786202414
|
0.00009
|
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
|
NM_000251.3(MSH2):c.367-19A>T
|
rs730881783
|
0.00009
|
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
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_000305.3(PON2):c.287G>C (p.Arg96Thr)
|
rs201552995
|
0.00009
|
|
NM_000305.3(PON2):c.677A>G (p.Asn226Ser)
|
rs200897774
|
0.00009
|
|
NM_000305.3(PON2):c.708T>G (p.Val236=)
|
rs758886833
|
0.00009
|
|
NM_000314.6(PTEN):c.-920G>A
|
rs786204937
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
0.00009
|
|
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)
|
rs564847999
|
0.00009
|
|
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val)
|
rs765699394
|
0.00009
|
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
|
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=)
|
rs769473892
|
0.00009
|
|
NM_000335.5(SCN5A):c.4449C>T (p.Asp1483=)
|
rs369245812
|
0.00009
|
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
|
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=)
|
rs370114378
|
0.00009
|
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
|
NM_000337.6(SGCD):c.160A>G (p.Ile54Val)
|
rs200671745
|
0.00009
|
|
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys)
|
rs758777521
|
0.00009
|
|
NM_000360.4(TH):c.1358G>A (p.Arg453His)
|
rs759599321
|
0.00009
|
|
NM_000384.3(APOB):c.10402A>G (p.Met3468Val)
|
rs149887185
|
0.00009
|
|
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)
|
rs368278927
|
0.00009
|
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
|
NM_000397.4(CYBB):c.66C>T (p.Asn22=)
|
rs193922450
|
0.00009
|
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
|
NM_000433.4(NCF2):c.1342A>G (p.Asn448Asp)
|
rs141569987
|
0.00009
|
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
|
NM_000448.3(RAG1):c.2753G>A (p.Arg918His)
|
rs368073575
|
0.00009
|
|
NM_000455.5(STK11):c.735-9G>A
|
rs201899557
|
0.00009
|
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
|
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg)
|
rs371136331
|
0.00009
|
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
|
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)
|
rs143980575
|
0.00009
|
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
|
NM_000492.4(CFTR):c.2909-6T>C
|
rs369612622
|
0.00009
|
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
|
NM_000518.4(HBB):c.-132G>T
|
rs887821047
|
0.00009
|
|
NM_000518.5(HBB):c.316-179A>C
|
rs185607297
|
0.00009
|
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
|
NM_000535.7(PMS2):c.1980C>T (p.Ala660=)
|
rs368928783
|
0.00009
|
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
|
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn)
|
rs773895173
|
0.00009
|
|
NM_000546.6(TP53):c.474C>T (p.Arg158=)
|
rs139200646
|
0.00009
|
|
NM_000546.6(TP53):c.6G>A (p.Glu2=)
|
rs143458271
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_000552.5(VWF):c.6069G>A (p.Thr2023=)
|
rs375810839
|
0.00009
|
|
NM_000552.5(VWF):c.6908C>T (p.Thr2303Met)
|
rs149432685
|
0.00009
|
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
|
NM_000781.3(CYP11A1):c.269+4A>G
|
rs199573967
|
0.00009
|
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
|
NM_001001548.3(CD36):c.875G>T (p.Arg292Ile)
|
rs200757788
|
0.00009
|
|
NM_001002755.4(NFU1):c.303-2A>T
|
rs371546359
|
0.00009
|
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
|
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)
|
rs755065507
|
0.00009
|
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
|
NM_001035.3(RYR2):c.639C>T (p.Ser213=)
|
rs375180398
|
0.00009
|
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
|
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=)
|
rs201082550
|
0.00009
|
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
|
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)
|
rs140156029
|
0.00009
|
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
|
NM_001079802.2(FKTN):c.1172+13T>C
|
rs768792475
|
0.00009
|
|
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)
|
rs141257714
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)
|
rs375628463
|
0.00009
|
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
|
NM_001085049.3(MRAS):c.252G>A (p.Thr84=)
|
rs373727168
|
0.00009
|
|
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)
|
rs149846886
|
0.00009
|
|
NM_001103.4(ACTN2):c.165C>T (p.Ala55=)
|
rs193922634
|
0.00009
|
|
NM_001110556.2(FLNA):c.4143-20C>T
|
rs782633956
|
0.00009
|
|
NM_001110556.2(FLNA):c.7756+19C>T
|
rs781867343
|
0.00009
|
|
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)
|
rs63094662
|
0.00009
|
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
|
NM_001110792.2(MECP2):c.756C>T (p.Thr252=)
|
rs61749746
|
0.00009
|
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
|
NM_001126049.2(KLLN):c.-1036G>A
|
rs567739104
|
0.00009
|
|
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile)
|
rs373092349
|
0.00009
|
|
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)
|
rs199649417
|
0.00009
|
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
|
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)
|
rs185569619
|
0.00009
|
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
|
NM_001148.6(ANK2):c.2127T>C (p.Asn709=)
|
rs113454484
|
0.00009
|
|
NM_001148.6(ANK2):c.2712C>T (p.Ser904=)
|
rs149310669
|
0.00009
|
|
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=)
|
rs140992864
|
0.00009
|
|
NM_001148.6(ANK2):c.6641C>T (p.Pro2214Leu)
|
rs143469039
|
0.00009
|
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
|
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp)
|
rs201867990
|
0.00009
|
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
|
NM_001257291.2(SLC9A7):c.923C>T (p.Ala308Val)
|
rs146304021
|
0.00009
|
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
|
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)
|
rs368692616
|
0.00009
|
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
|
NM_001267550.2(TTN):c.24227-16G>A
|
rs377340591
|
0.00009
|
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
|
NM_001267550.2(TTN):c.27328+14C>T
|
rs781624389
|
0.00009
|
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
|
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=)
|
rs377442695
|
0.00009
|
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
|
NM_001267550.2(TTN):c.39212-17A>G
|
rs770122983
|
0.00009
|
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
|
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)
|
rs199768159
|
0.00009
|
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
|
NM_001267550.2(TTN):c.63333T>G (p.Ser21111=)
|
rs780374544
|
0.00009
|
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
|
NM_001267550.2(TTN):c.7058-17C>T
|
rs572098454
|
0.00009
|
|
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)
|
rs372407708
|
0.00009
|
|
NM_001267550.2(TTN):c.83820C>T (p.Asn27940=)
|
rs727503555
|
0.00009
|
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
|
NM_001297.5(CNGB1):c.2794+1G>A
|
rs770011113
|
0.00009
|
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00009
|
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
|
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)
|
rs782065240
|
0.00009
|
|
NM_001365999.1(SZT2):c.2037+14T>C
|
rs183998762
|
0.00009
|
|
NM_001367624.2(ZNF469):c.8426C>T (p.Pro2809Leu)
|
rs1054270904
|
0.00009
|
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
|
NM_001377299.1(NDUFS2):c.1105G>A (p.Ala369Thr)
|
rs200509897
|
0.00009
|
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
|
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=)
|
rs186849322
|
0.00009
|
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)
|
rs377742483
|
0.00009
|
|
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
0.00009
|
|
NM_001606.5(ABCA2):c.3883-3C>T
|
rs542477663
|
0.00009
|
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
|
NM_001927.4(DES):c.736-19G>A
|
rs745667526
|
0.00009
|
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
|
NM_002471.4(MYH6):c.-8G>A
|
rs28730779
|
0.00009
|
|
NM_002471.4(MYH6):c.1485C>T (p.Phe495=)
|
rs181613656
|
0.00009
|
|
NM_002471.4(MYH6):c.2520G>A (p.Pro840=)
|
rs141945051
|
0.00009
|
|
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)
|
rs751153777
|
0.00009
|
|
NM_002474.3(MYH11):c.3204C>T (p.His1068=)
|
rs140143700
|
0.00009
|
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
|
NM_002485.5(NBN):c.426T>C (p.Asn142=)
|
rs143070291
|
0.00009
|
|
NM_002691.4(POLD1):c.1596C>T (p.Ala532=)
|
rs550441767
|
0.00009
|
|
NM_002691.4(POLD1):c.2388+5G>A
|
rs750085275
|
0.00009
|
|
NM_002691.4(POLD1):c.2565-9C>T
|
rs370970182
|
0.00009
|
|
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val)
|
rs377513504
|
0.00009
|
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
|
NM_002834.5(PTPN11):c.486C>T (p.Asp162=)
|
rs397507522
|
0.00009
|
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
|
NM_002878.4(RAD51D):c.864C>T (p.Gly288=)
|
rs138557828
|
0.00009
|
|
NM_002972.4(SBF1):c.1399G>A (p.Val467Ile)
|
rs192339446
|
0.00009
|
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
|
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)
|
rs963277918
|
0.00009
|
|
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys)
|
rs145776296
|
0.00009
|
|
NM_003172.4(SURF1):c.17C>T (p.Ala6Val)
|
rs587727919
|
0.00009
|
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
|
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile)
|
rs767932680
|
0.00009
|
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
|
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)
|
rs374886575
|
0.00009
|
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
|
NM_004100.5(EYA4):c.1161C>T (p.Leu387=)
|
rs140472262
|
0.00009
|
|
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro)
|
rs746892694
|
0.00009
|
|
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)
|
rs137853229
|
0.00009
|
|
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met)
|
rs3740128
|
0.00009
|
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
|
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)
|
rs535411352
|
0.00009
|
|
NM_004333.6(BRAF):c.399A>G (p.Ser133=)
|
rs397507463
|
0.00009
|
|
NM_004360.5(CDH1):c.1359C>T (p.His453=)
|
rs114861467
|
0.00009
|
|
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val)
|
rs2276331
|
0.00009
|
|
NM_004360.5(CDH1):c.894C>T (p.Ala298=)
|
rs139110184
|
0.00009
|
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
|
NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln)
|
rs774866184
|
0.00009
|
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
|
NM_004977.3(KCNC3):c.804G>T (p.Trp268Cys)
|
rs1015358035
|
0.00009
|
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
|
NM_005188.4(CBL):c.2268C>T (p.Ala756=)
|
rs142564074
|
0.00009
|
|
NM_005188.4(CBL):c.590+20A>G
|
rs769677676
|
0.00009
|
|
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)
|
rs371672410
|
0.00009
|
|
NM_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00009
|
|
NM_005502.4(ABCA1):c.2811G>A (p.Ala937=)
|
rs147290375
|
0.00009
|
|
NM_005535.3(IL12RB1):c.128C>T (p.Ser43Leu)
|
rs189309495
|
0.00009
|
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
|
NM_005633.4(SOS1):c.214-17T>C
|
rs369722808
|
0.00009
|
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
|
NM_005732.4(RAD50):c.1239A>G (p.Gln413=)
|
rs182206007
|
0.00009
|
|
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)
|
rs150401251
|
0.00009
|
|
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser)
|
rs369206894
|
0.00009
|
|
NM_005751.5(AKAP9):c.6177A>G (p.Glu2059=)
|
rs752723636
|
0.00009
|
|
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met)
|
rs368444006
|
0.00009
|
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
|
NM_006231.4(POLE):c.1905C>T (p.Ile635=)
|
rs145203544
|
0.00009
|
|
NM_006231.4(POLE):c.4047G>A (p.Ala1349=)
|
rs201746181
|
0.00009
|
|
NM_006393.3(NEBL):c.120A>G (p.Glu40=)
|
rs397517203
|
0.00009
|
|
NM_006393.3(NEBL):c.582+9T>C
|
rs185873503
|
0.00009
|
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
|
NM_006506.5(RASA2):c.1674+16T>A
|
rs769778924
|
0.00009
|
|
NM_006506.5(RASA2):c.382T>C (p.Leu128=)
|
rs193019405
|
0.00009
|
|
NM_006576.4(AVIL):c.1729G>A (p.Gly577Ser)
|
rs748204951
|
0.00009
|
|
NM_006767.4(LZTR1):c.*9G>A
|
rs371599187
|
0.00009
|
|
NM_006767.4(LZTR1):c.1377C>T (p.His459=)
|
rs752985853
|
0.00009
|
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
|
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)
|
rs776893978
|
0.00009
|
|
NM_006767.4(LZTR1):c.366G>A (p.Ser122=)
|
rs367767120
|
0.00009
|
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
|
NM_006939.4(SOS2):c.2520A>G (p.Ala840=)
|
rs775682587
|
0.00009
|
|
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)
|
rs930347206
|
0.00009
|
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
|
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp)
|
rs45610637
|
0.00009
|
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
|
NM_007289.4(MME):c.2067C>A (p.Asn689Lys)
|
rs146536523
|
0.00009
|
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
|
NM_007294.4(BRCA1):c.5152+20T>A
|
rs376836050
|
0.00009
|
|
NM_014000.3(VCL):c.1290C>T (p.Asp430=)
|
rs576271894
|
0.00009
|
|
NM_014000.3(VCL):c.2142C>T (p.Asp714=)
|
rs373790383
|
0.00009
|
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
|
NM_014244.5(ADAMTS2):c.3088+15G>A
|
rs910578729
|
0.00009
|
|
NM_014251.3(SLC25A13):c.848+3A>C
|
rs369402461
|
0.00009
|
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
|
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr)
|
rs554065722
|
0.00009
|
|
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr)
|
rs763536557
|
0.00009
|
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
|
NM_015046.7(SETX):c.4866G>A (p.Pro1622=)
|
rs779472573
|
0.00009
|
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
|
NM_015311.3(OBSL1):c.5060T>C (p.Leu1687Pro)
|
rs757858688
|
0.00009
|
|
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His)
|
rs147891080
|
0.00009
|
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
|
NM_016553.5(NUP62):c.796G>A (p.Gly266Ser)
|
rs200690516
|
0.00009
|
|
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val)
|
rs374630865
|
0.00009
|
|
NM_017777.4(MKS1):c.858+6C>T
|
rs368774719
|
0.00009
|
|
NM_018112.3(TMEM38B):c.818A>G (p.Lys273Arg)
|
rs146026425
|
0.00009
|
|
NM_019112.4(ABCA7):c.3578-2A>G
|
rs376824416
|
0.00009
|
|
NM_019616.4(F7):c.854G>A (p.Arg285His)
|
rs121964929
|
0.00009
|
|
NM_020117.11(LARS1):c.2770-2A>G
|
rs139456270
|
0.00009
|
|
NM_020297.4(ABCC9):c.4344T>C (p.Asn1448=)
|
rs146782703
|
0.00009
|
|
NM_020361.5(CPA6):c.748-1G>A
|
rs201265791
|
0.00009
|
|
NM_020365.5(EIF2B3):c.590C>T (p.Thr197Met)
|
rs749213552
|
0.00009
|
|
NM_020533.3(MCOLN1):c.406-2A>G
|
rs104886461
|
0.00009
|
|
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu)
|
rs369440409
|
0.00009
|
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
|
NM_020921.4(NIN):c.3403G>A (p.Val1135Ile)
|
rs150722174
|
0.00009
|
|
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)
|
rs750277154
|
0.00009
|
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
0.00009
|
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
|
NM_022114.4(PRDM16):c.1377G>A (p.Pro459=)
|
rs776479768
|
0.00009
|
|
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser)
|
rs200278862
|
0.00009
|
|
NM_022124.6(CDH23):c.3029G>A (p.Arg1010His)
|
rs370107953
|
0.00009
|
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479
|
0.00009
|
|
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val)
|
rs375829761
|
0.00009
|
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
|
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala)
|
rs375051877
|
0.00009
|
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
|
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)
|
rs397507447
|
0.00009
|
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
|
NM_024649.5(BBS1):c.1110+15C>T
|
rs371084544
|
0.00009
|
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
|
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)
|
rs515726068
|
0.00009
|
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
|
NM_024675.4(PALB2):c.1623G>A (p.Arg541=)
|
rs745665968
|
0.00009
|
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
|
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
|
NM_025257.3(SLC44A4):c.22G>A (p.Glu8Lys)
|
rs374954632
|
0.00009
|
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
|
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)
|
rs202067357
|
0.00009
|
|
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)
|
rs138329739
|
0.00009
|
|
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)
|
rs536506601
|
0.00009
|
|
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His)
|
rs139817477
|
0.00009
|
|
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=)
|
rs201873975
|
0.00009
|
|
NM_053025.4(MYLK):c.4289-13del
|
rs779252356
|
0.00009
|
|
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=)
|
rs374665486
|
0.00009
|
|
NM_054012.4(ASS1):c.19G>A (p.Val7Met)
|
rs149938546
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_133259.4(LRPPRC):c.2210+4A>C
|
rs190007694
|
0.00009
|
|
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)
|
rs760016065
|
0.00009
|
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
|
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
|
rs139742511
|
0.00009
|
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
|
NM_144670.6(A2ML1):c.2234+10G>A
|
rs753021676
|
0.00009
|
|
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)
|
rs199651558
|
0.00009
|
|
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter)
|
rs182070540
|
0.00009
|
|
NM_144670.6(A2ML1):c.855+9A>G
|
rs200524501
|
0.00009
|
|
NM_144997.7(FLCN):c.779+9C>T
|
rs373504780
|
0.00009
|
|
NM_145059.3(FCSK):c.2068C>T (p.Gln690Ter)
|
rs375737602
|
0.00009
|
|
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn)
|
rs771480941
|
0.00009
|
|
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met)
|
rs559947948
|
0.00009
|
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
|
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp)
|
rs368135271
|
0.00009
|
|
NM_173076.3(ABCA12):c.2592+6A>C
|
rs375214951
|
0.00009
|
|
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser)
|
rs149868494
|
0.00009
|
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
|
NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr)
|
rs121909657
|
0.00009
|
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
|
NM_207346.3(TSEN54):c.1173G>C (p.Gln391His)
|
rs577958629
|
0.00009
|
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
|
NM_000038.6(APC):c.4212C>A (p.Ser1404=)
|
rs144655979
|
0.00008
|
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
|
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)
|
rs991104525
|
0.00008
|
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
|
NM_000051.4(ATM):c.2466+7A>G
|
rs55812024
|
0.00008
|
|
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)
|
rs587782298
|
0.00008
|
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
|
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)
|
rs1232551114
|
0.00008
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
|
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)
|
rs141269464
|
0.00008
|
|
NM_000059.4(BRCA2):c.2109C>T (p.Thr703=)
|
rs762499878
|
0.00008
|
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
|
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys)
|
rs200210279
|
0.00008
|
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
|
NM_000075.4(CDK4):c.886C>T (p.His296Tyr)
|
rs2227954
|
0.00008
|
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00008
|
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00008
|
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
|
NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr)
|
rs201544164
|
0.00008
|
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
|
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val)
|
rs76451285
|
0.00008
|
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
|
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=)
|
rs151232024
|
0.00008
|
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
|
NM_000179.3(MSH6):c.3540A>C (p.Ser1180=)
|
rs777096746
|
0.00008
|
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
|
NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=)
|
rs145452045
|
0.00008
|
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
|
NM_000237.3(LPL):c.134C>A (p.Thr45Asn)
|
rs143944126
|
0.00008
|
|
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys)
|
rs199472885
|
0.00008
|
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
|
NM_000251.3(MSH2):c.1662-10C>T
|
rs752606387
|
0.00008
|
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
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_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
0.00008
|
|
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)
|
rs199473634
|
0.00008
|
|
NM_000335.5(SCN5A):c.873C>T (p.Asn291=)
|
rs376515775
|
0.00008
|
|
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)
|
rs538002169
|
0.00008
|
|
NM_000350.3(ABCA4):c.1552G>A (p.Glu518Lys)
|
rs369860406
|
0.00008
|
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
|
NM_000380.4(XPA):c.731A>G (p.His244Arg)
|
rs144725456
|
0.00008
|
|
NM_000384.3(APOB):c.10509G>A (p.Ser3503=)
|
rs769351301
|
0.00008
|
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
|
NM_000400.4(ERCC2):c.733G>A (p.Asp245Asn)
|
rs777291413
|
0.00008
|
|
NM_000426.4(LAMA2):c.4436+18A>G
|
rs184907128
|
0.00008
|
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
|
NM_000465.4(BARD1):c.1985T>G (p.Leu662Arg)
|
rs556775078
|
0.00008
|
|
NM_000465.4(BARD1):c.687T>C (p.Phe229=)
|
rs756803590
|
0.00008
|
|
NM_000477.7(ALB):c.725G>A (p.Arg242His)
|
rs75002628
|
0.00008
|
|
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)
|
rs104894334
|
0.00008
|
|
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val)
|
rs375129029
|
0.00008
|
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
|
NM_000518.5(HBB):c.*91G>A
|
rs193922549
|
0.00008
|
|
NM_000518.5(HBB):c.92+4G>A
|
rs1377832836
|
0.00008
|
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
|
NM_000535.7(PMS2):c.1656T>C (p.His552=)
|
rs113726095
|
0.00008
|
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
|
NM_000535.7(PMS2):c.735G>T (p.Leu245=)
|
rs373366661
|
0.00008
|
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
|
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)
|
rs767722360
|
0.00008
|
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
|
NM_000552.5(VWF):c.7724G>A (p.Arg2575His)
|
rs373321657
|
0.00008
|
|
NM_000631.5(NCF4):c.179G>A (p.Arg60His)
|
rs369847561
|
0.00008
|
|
NM_000642.3(AGL):c.1423+3A>G
|
rs766117687
|
0.00008
|
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
|
NM_001005242.3(PKP2):c.888C>T (p.His296=)
|
rs397517029
|
0.00008
|
|
NM_001032283.3(TMPO):c.565+2387G>A
|
rs201034441
|
0.00008
|
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
|
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)
|
rs140733963
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)
|
rs192816572
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)
|
rs147923905
|
0.00008
|
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
|
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=)
|
rs374278766
|
0.00008
|
|
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=)
|
rs368009936
|
0.00008
|
|
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)
|
rs199849117
|
0.00008
|
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
|
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454
|
0.00008
|
|
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)
|
rs79036642
|
0.00008
|
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
|
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=)
|
rs543436497
|
0.00008
|
|
NM_001165963.4(SCN1A):c.2946+19T>C
|
rs180873219
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
|
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)
|
rs368165922
|
0.00008
|
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
|
NM_001267550.2(TTN):c.20837-6T>C
|
rs761982704
|
0.00008
|
|
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)
|
rs548471822
|
0.00008
|
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
|
NM_001267550.2(TTN):c.2776-14T>C
|
rs201611946
|
0.00008
|
|
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn)
|
rs147020824
|
0.00008
|
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
|
NM_001267550.2(TTN):c.50551+9T>C
|
rs370798229
|
0.00008
|
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00008
|
|
NM_001267550.2(TTN):c.63137T>C (p.Ile21046Thr)
|
rs368868562
|
0.00008
|
|
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp)
|
rs199755820
|
0.00008
|
|
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)
|
rs397517759
|
0.00008
|
|
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)
|
rs762265902
|
0.00008
|
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.7015-14T>C
|
rs753878203
|
0.00008
|
|
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
|
rs375593700
|
0.00008
|
|
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys)
|
rs376186520
|
0.00008
|
|
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr)
|
rs190619495
|
0.00008
|
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
|
NM_001904.4(CTNNB1):c.1803+3A>G
|
rs771700200
|
0.00008
|
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
|
NM_002087.4(GRN):c.229G>A (p.Val77Ile)
|
rs148531161
|
0.00008
|
|
NM_002150.3(HPD):c.446A>G (p.Lys149Arg)
|
rs374690828
|
0.00008
|
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
|
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu)
|
rs371859345
|
0.00008
|
|
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)
|
rs138127105
|
0.00008
|
|
NM_002474.3(MYH11):c.1344T>C (p.His448=)
|
rs549593465
|
0.00008
|
|
NM_002474.3(MYH11):c.300C>T (p.Ser100=)
|
rs111662326
|
0.00008
|
|
NM_002474.3(MYH11):c.3293+5C>T
|
rs766421052
|
0.00008
|
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
|
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His)
|
rs754452975
|
0.00008
|
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
0.00008
|
|
NM_002691.4(POLD1):c.1686+10C>T
|
rs372652150
|
0.00008
|
|
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr)
|
rs753865441
|
0.00008
|
|
NM_002691.4(POLD1):c.2718-4G>A
|
rs755348897
|
0.00008
|
|
NM_002691.4(POLD1):c.3156G>A (p.Ser1052=)
|
rs373910727
|
0.00008
|
|
NM_002769.5(PRSS1):c.284G>A (p.Arg95His)
|
rs375820192
|
0.00008
|
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
|
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)
|
rs587780106
|
0.00008
|
|
NM_003235.5(TG):c.4797C>T (p.Pro1599=)
|
rs369301609
|
0.00008
|
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
|
NM_004333.6(BRAF):c.375T>G (p.Ser125=)
|
rs201507202
|
0.00008
|
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00008
|
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
|
NM_004937.3(CTNS):c.461+16G>A
|
rs201772152
|
0.00008
|
|
NM_005188.4(CBL):c.2349C>T (p.Ala783=)
|
rs552509693
|
0.00008
|
|
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)
|
rs201631570
|
0.00008
|
|
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln)
|
rs139818555
|
0.00008
|
|
NM_005215.4(DCC):c.2260G>A (p.Val754Met)
|
rs775565634
|
0.00008
|
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
|
NM_005502.4(ABCA1):c.2910C>T (p.Thr970=)
|
rs142992384
|
0.00008
|
|
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)
|
rs370058829
|
0.00008
|
|
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp)
|
rs372000848
|
0.00008
|
|
NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala)
|
rs786201205
|
0.00008
|
|
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=)
|
rs372748115
|
0.00008
|
|
NM_005911.6(MAT2A):c.729C>T (p.His243=)
|
rs757299832
|
0.00008
|
|
NM_005993.5(TBCD):c.2178+5A>G
|
rs371823710
|
0.00008
|
|
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr)
|
rs769183047
|
0.00008
|
|
NM_006096.4(NDRG1):c.1051C>T (p.Arg351Ter)
|
rs765621411
|
0.00008
|
|
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys)
|
rs150564856
|
0.00008
|
|
NM_006270.5(RRAS):c.344+17G>A
|
rs761080520
|
0.00008
|
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
|
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)
|
rs200129338
|
0.00008
|
|
NM_006767.4(LZTR1):c.1548C>T (p.Ala516=)
|
rs545065457
|
0.00008
|
|
NM_006767.4(LZTR1):c.369C>T (p.Ala123=)
|
rs773126123
|
0.00008
|
|
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly)
|
rs369462490
|
0.00008
|
|
NM_007103.4(NDUFV1):c.156G>T (p.Arg52Ser)
|
rs199609729
|
0.00008
|
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
|
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)
|
rs28897696
|
0.00008
|
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
|
NM_007294.4(BRCA1):c.987T>C (p.Asn329=)
|
rs774849810
|
0.00008
|
|
NM_007373.4(SHOC2):c.1161+9A>G
|
rs201795589
|
0.00008
|
|
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys)
|
rs1030716081
|
0.00008
|
|
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)
|
rs761622978
|
0.00008
|
|
NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys)
|
rs187653323
|
0.00008
|
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
|
NM_014844.5(TECPR2):c.1319del (p.Leu440fs)
|
rs750908377
|
0.00008
|
|
NM_015311.3(OBSL1):c.3445G>A (p.Gly1149Arg)
|
rs200771559
|
0.00008
|
|
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)
|
rs757727533
|
0.00008
|
|
NM_016363.5(GP6):c.*599G>A
|
rs368531531
|
0.00008
|
|
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys)
|
rs202006788
|
0.00008
|
|
NM_017617.5(NOTCH1):c.5018+13C>T
|
rs752508890
|
0.00008
|
|
NM_017617.5(NOTCH1):c.6083-4G>A
|
rs570242146
|
0.00008
|
|
NM_017755.6(NSUN2):c.2137G>A (p.Glu713Lys)
|
rs200232369
|
0.00008
|
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
|
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly)
|
rs373515194
|
0.00008
|
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
|
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)
|
rs147277743
|
0.00008
|
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
|
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly)
|
rs151209875
|
0.00008
|
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
|
NM_030662.4(MAP2K2):c.399C>T (p.Phe133=)
|
rs145524962
|
0.00008
|
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
|
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs)
|
rs779746050
|
0.00008
|
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
|
NM_053025.4(MYLK):c.1689C>T (p.Ala563=)
|
rs760193913
|
0.00008
|
|
NM_053025.4(MYLK):c.2598C>T (p.Gly866=)
|
rs144654396
|
0.00008
|
|
NM_053025.4(MYLK):c.3696G>A (p.Pro1232=)
|
rs769086535
|
0.00008
|
|
NM_053025.4(MYLK):c.3832-9C>T
|
rs200022087
|
0.00008
|
|
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro)
|
rs559043503
|
0.00008
|
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
|
NM_139276.3(STAT3):c.1519G>T (p.Val507Phe)
|
rs145786768
|
0.00008
|
|
NM_144670.6(A2ML1):c.2328C>T (p.Phe776=)
|
rs368663740
|
0.00008
|
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
|
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)
|
rs748221725
|
0.00008
|
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
|
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)
|
rs118203935
|
0.00008
|
|
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln)
|
rs367620267
|
0.00008
|
|
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser)
|
rs533273863
|
0.00008
|
|
NM_181507.2(HPS5):c.1379G>T (p.Gly460Val)
|
rs563393844
|
0.00008
|
|
NM_182925.5(FLT4):c.475C>G (p.Leu159Val)
|
rs147634448
|
0.00008
|
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
|
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr)
|
rs375665207
|
0.00008
|
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
|
NR_003051.3(RMRP):n.-22T>C
|
rs947939533
|
0.00008
|
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
|
NM_000038.6(APC):c.1408+3A>G
|
rs534358523
|
0.00007
|
|
NM_000038.6(APC):c.3624C>T (p.Thr1208=)
|
rs730882125
|
0.00007
|
|
NM_000038.6(APC):c.4533C>T (p.Leu1511=)
|
rs150089434
|
0.00007
|
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
|
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys)
|
rs750185173
|
0.00007
|
|
NM_000045.4(ARG1):c.665+4G>A
|
rs371976737
|
0.00007
|
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
|
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu)
|
rs371526361
|
0.00007
|
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
|
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)
|
rs771789585
|
0.00007
|
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
|
NM_000059.4(BRCA2):c.1644G>A (p.Gln548=)
|
rs55986646
|
0.00007
|
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
|
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)
|
rs56337919
|
0.00007
|
|
NM_000059.4(BRCA2):c.4791T>C (p.Ser1597=)
|
rs786201728
|
0.00007
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
|
NM_000059.4(BRCA2):c.8953+16C>T
|
rs81002892
|
0.00007
|
|
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=)
|
rs777488349
|
0.00007
|
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
|
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser)
|
rs780504632
|
0.00007
|
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
|
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)
|
rs142886387
|
0.00007
|
|
NM_000098.3(CPT2):c.84C>T (p.Gly28=)
|
rs772541454
|
0.00007
|
|
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)
|
rs375391843
|
0.00007
|
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
|
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)
|
rs143018900
|
0.00007
|
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
|
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)
|
rs140992397
|
0.00007
|
|
NM_000138.5(FBN1):c.2678-3C>T
|
rs747274959
|
0.00007
|
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
|
NM_000138.5(FBN1):c.2772C>T (p.Gly924=)
|
rs539699143
|
0.00007
|
|
NM_000147.5(FUCA1):c.1A>G (p.Met1Val)
|
rs558338123
|
0.00007
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
|
NM_000170.3(GLDC):c.661G>A (p.Val221Ile)
|
rs144043066
|
0.00007
|
|
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)
|
rs13306411
|
0.00007
|
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
|
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr)
|
rs769419740
|
0.00007
|
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
|
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)
|
rs745993706
|
0.00007
|
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
|
NM_000249.4(MLH1):c.*4T>C
|
rs750794400
|
0.00007
|
|
NM_000249.4(MLH1):c.117-10G>A
|
rs576724240
|
0.00007
|
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
|
NM_000249.4(MLH1):c.1908G>A (p.Leu636=)
|
rs1800145
|
0.00007
|
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
|
NM_000249.4(MLH1):c.589-8T>C
|
rs1017112753
|
0.00007
|
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
|
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)
|
rs377345366
|
0.00007
|
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
|
NM_000251.3(MSH2):c.642A>G (p.Arg214=)
|
rs768931909
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)
|
rs202147520
|
0.00007
|
|
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=)
|
rs139071993
|
0.00007
|
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
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_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
|
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
|
rs377497101
|
0.00007
|
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00007
|
|
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)
|
rs187925143
|
0.00007
|
|
NM_000371.4(TTR):c.280G>C (p.Asp94His)
|
rs730881164
|
0.00007
|
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
|
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr)
|
rs201356986
|
0.00007
|
|
NM_000432.4(MYL2):c.*10C>T
|
rs193922452
|
0.00007
|
|
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)
|
rs193922462
|
0.00007
|
|
NM_000455.5(STK11):c.-2G>T
|
rs774072752
|
0.00007
|
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
|
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)
|
rs765011829
|
0.00007
|
|
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
|
rs121918002
|
0.00007
|
|
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn)
|
rs151273832
|
0.00007
|
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
|
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)
|
rs5293
|
0.00007
|
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
|
NM_000527.5(LDLR):c.267C>T (p.Cys89=)
|
rs777640882
|
0.00007
|
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
|
NM_000552.5(VWF):c.6890C>T (p.Pro2297Leu)
|
rs201372397
|
0.00007
|
|
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=)
|
rs749123185
|
0.00007
|
|
NM_000719.7(CACNA1C):c.2854-4G>A
|
rs113929946
|
0.00007
|
|
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)
|
rs374991642
|
0.00007
|
|
NM_001002294.3(FMO3):c.622G>T (p.Glu208Ter)
|
rs559643079
|
0.00007
|
|
NM_001035.3(RYR2):c.51T>C (p.Asp17=)
|
rs373674802
|
0.00007
|
|
NM_001035.3(RYR2):c.8830+19T>C
|
rs770534794
|
0.00007
|
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
|
NM_001042492.3(NF1):c.3636C>A (p.Val1212=)
|
rs145126193
|
0.00007
|
|
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=)
|
rs148662566
|
0.00007
|
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
|
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
|
rs373766973
|
0.00007
|
|
NM_001048174.2(MUTYH):c.492+8G>C
|
rs190500741
|
0.00007
|
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
|
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)
|
rs147462227
|
0.00007
|
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
|
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=)
|
rs782615607
|
0.00007
|
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
|
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)
|
rs61750246
|
0.00007
|
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
|
NM_001148.6(ANK2):c.10322G>A (p.Arg3441Gln)
|
rs772954896
|
0.00007
|
|
NM_001148.6(ANK2):c.3224+7G>A
|
rs376534098
|
0.00007
|
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
|
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)
|
rs371357815
|
0.00007
|
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
|
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys)
|
rs547231033
|
0.00007
|
|
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
|
rs148057999
|
0.00007
|
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
|
NM_001250.6(CD40):c.381C>T (p.Pro127=)
|
rs763263083
|
0.00007
|
|
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)
|
rs376443365
|
0.00007
|
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00007
|
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
|
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)
|
rs369932282
|
0.00007
|
|
NM_001267550.2(TTN):c.35185G>A (p.Glu11729Lys)
|
rs762444896
|
0.00007
|
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
|
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr)
|
rs374563054
|
0.00007
|
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
|
NM_001267550.2(TTN):c.64059T>C (p.Asp21353=)
|
rs377184630
|
0.00007
|
|
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)
|
rs775146212
|
0.00007
|
|
NM_001267550.2(TTN):c.72475A>G (p.Ile24159Val)
|
rs371764714
|
0.00007
|
|
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)
|
rs199532781
|
0.00007
|
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
|
NM_001365999.1(SZT2):c.9287-8T>C
|
rs183871754
|
0.00007
|
|
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
|
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=)
|
rs375011895
|
0.00007
|
|
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=)
|
rs45580837
|
0.00007
|
|
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
|
rs34029285
|
0.00007
|
|
NM_001379451.1(BCORL1):c.4079_4081del (p.Asp1360_Leu1361delinsVal)
|
rs781578120
|
0.00007
|
|
NM_001379500.1(COL18A1):c.651+17C>T
|
rs578202936
|
0.00007
|
|
NM_001384474.1(LOXHD1):c.2599-12C>T
|
rs892676326
|
0.00007
|
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00007
|
|
NM_001711.6(BGN):c.231C>T (p.Ser77=)
|
rs141785227
|
0.00007
|
|
NM_001715.3(BLK):c.859G>A (p.Val287Met)
|
rs1042687
|
0.00007
|
|
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg)
|
rs200314049
|
0.00007
|
|
NM_001851.6(COL9A1):c.88+19A>C
|
rs188749185
|
0.00007
|
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
|
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)
|
rs544981484
|
0.00007
|
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
|
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser)
|
rs397516747
|
0.00007
|
|
NM_002299.4(LCT):c.2761G>T (p.Ala921Ser)
|
rs149891578
|
0.00007
|
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
|
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp)
|
rs372736126
|
0.00007
|
|
NM_002474.3(MYH11):c.3228G>A (p.Ala1076=)
|
rs773672888
|
0.00007
|
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
|
NM_002734.5(PRKAR1A):c.974-10C>T
|
rs774715675
|
0.00007
|
|
NM_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
|
NM_002755.4(MAP2K1):c.292-3C>T
|
rs55694358
|
0.00007
|
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
|
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
0.00007
|
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
|
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)
|
rs370531842
|
0.00007
|
|
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)
|
rs750210485
|
0.00007
|
|
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)
|
rs782623477
|
0.00007
|
|
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)
|
rs116769964
|
0.00007
|
|
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln)
|
rs372970842
|
0.00007
|
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
|
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
0.00007
|
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
|
NM_004415.4(DSP):c.1044+12G>A
|
rs775969969
|
0.00007
|
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
|
NM_004415.4(DSP):c.7563T>C (p.Asp2521=)
|
rs984412074
|
0.00007
|
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
|
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr)
|
rs141260153
|
0.00007
|
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
|
NM_005188.4(CBL):c.1299G>A (p.Pro433=)
|
rs199633558
|
0.00007
|
|
NM_005188.4(CBL):c.1443G>T (p.Pro481=)
|
rs768111719
|
0.00007
|
|
NM_005502.4(ABCA1):c.3432C>T (p.Asn1144=)
|
rs559256396
|
0.00007
|
|
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)
|
rs564049659
|
0.00007
|
|
NM_005546.4(ITK):c.768+3A>G
|
rs374214545
|
0.00007
|
|
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)
|
rs137852761
|
0.00007
|
|
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg)
|
rs587782294
|
0.00007
|
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
|
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=)
|
rs727505181
|
0.00007
|
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
|
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)
|
rs730881026
|
0.00007
|
|
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu)
|
rs144749616
|
0.00007
|
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
|
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
|
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser)
|
rs774241611
|
0.00007
|
|
NM_006231.4(POLE):c.2172G>A (p.Ala724=)
|
rs372240734
|
0.00007
|
|
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met)
|
rs531705054
|
0.00007
|
|
NM_006231.4(POLE):c.6331-8C>T
|
rs769766403
|
0.00007
|
|
NM_006506.5(RASA2):c.156A>G (p.Pro52=)
|
rs143703190
|
0.00007
|
|
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn)
|
rs764427452
|
0.00007
|
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
|
NM_006767.4(LZTR1):c.2499C>T (p.Cys833=)
|
rs746037698
|
0.00007
|
|
NM_006904.7(PRKDC):c.593G>A (p.Arg198His)
|
rs368974848
|
0.00007
|
|
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
|
rs121918374
|
0.00007
|
|
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
|
rs745788940
|
0.00007
|
|
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
|
rs755783805
|
0.00007
|
|
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile)
|
rs141078955
|
0.00007
|
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
|
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=)
|
rs80356831
|
0.00007
|
|
NM_007294.4(BRCA1):c.5332+13G>T
|
rs372391060
|
0.00007
|
|
NM_007294.4(BRCA1):c.5467+8G>A
|
rs80358062
|
0.00007
|
|
NM_007294.4(BRCA1):c.593+3G>A
|
rs80358013
|
0.00007
|
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
|
NM_013246.3(CLCF1):c.89G>A (p.Arg30His)
|
rs772890565
|
0.00007
|
|
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)
|
rs104894425
|
0.00007
|
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
|
NM_016035.5(COQ4):c.202G>C (p.Asp68His)
|
rs758522459
|
0.00007
|
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=)
|
rs751191827
|
0.00007
|
|
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=)
|
rs541372272
|
0.00007
|
|
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn)
|
rs573006534
|
0.00007
|
|
NM_020778.5(ALPK3):c.182+9A>G
|
rs200942386
|
0.00007
|
|
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)
|
rs763151358
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
|
NM_022114.4(PRDM16):c.*15G>A
|
rs771401380
|
0.00007
|
|
NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys)
|
rs181843079
|
0.00007
|
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
|
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala)
|
rs371567666
|
0.00007
|
|
NM_022124.6(CDH23):c.8120C>T (p.Pro2707Leu)
|
rs373230009
|
0.00007
|
|
NM_022437.3(ABCG8):c.586C>T (p.Arg196Trp)
|
rs200433692
|
0.00007
|
|
NM_024334.3(TMEM43):c.-4C>T
|
rs760598925
|
0.00007
|
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
|
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)
|
rs529316227
|
0.00007
|
|
NM_030662.4(MAP2K2):c.825G>A (p.Leu275=)
|
rs587781027
|
0.00007
|
|
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn)
|
rs573480396
|
0.00007
|
|
NM_030777.4(SLC2A10):c.792T>C (p.His264=)
|
rs377031320
|
0.00007
|
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
|
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)
|
rs750093817
|
0.00007
|
|
NM_053025.4(MYLK):c.2070G>A (p.Thr690=)
|
rs141049942
|
0.00007
|
|
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)
|
rs147840022
|
0.00007
|
|
NM_053025.4(MYLK):c.4332G>A (p.Glu1444=)
|
rs139884214
|
0.00007
|
|
NM_053025.4(MYLK):c.5238+6G>A
|
rs769544580
|
0.00007
|
|
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=)
|
rs147536036
|
0.00007
|
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
|
NM_133378.4(TTN):c.28030+5G>A
|
rs145387989
|
0.00007
|
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
|
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys)
|
rs146680689
|
0.00007
|
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
|
NM_139076.3(ABRAXAS1):c.178+9T>C
|
rs367733190
|
0.00007
|
|
NM_144670.6(A2ML1):c.1477-13T>C
|
rs778863549
|
0.00007
|
|
NM_144988.4(ALG14):c.136+1G>C
|
rs150550220
|
0.00007
|
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
|
NM_170707.4(LMNA):c.811-18C>G
|
rs766309567
|
0.00007
|
|
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
|
rs200091654
|
0.00007
|
|
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)
|
rs200856421
|
0.00007
|
|
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu)
|
rs201749293
|
0.00007
|
|
NM_176787.5(PIGN):c.776T>C (p.Phe259Ser)
|
rs370310838
|
0.00007
|
|
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
|
rs200704721
|
0.00007
|
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
|
NR_003051.3(RMRP):n.271T>C
|
rs377349293
|
0.00007
|
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
|
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)
|
rs121908737
|
0.00006
|
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
|
NM_000030.3(AGXT):c.704C>T (p.Thr235Met)
|
rs763751076
|
0.00006
|
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
0.00006
|
|
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)
|
rs587782886
|
0.00006
|
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
|
NM_000038.6(APC):c.2148A>G (p.Lys716=)
|
rs764733890
|
0.00006
|
|
NM_000038.6(APC):c.2461G>A (p.Val821Ile)
|
rs138498551
|
0.00006
|
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
|
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)
|
rs200166878
|
0.00006
|
|
NM_000038.6(APC):c.4478C>T (p.Thr1493Met)
|
rs374892194
|
0.00006
|
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
|
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)
|
rs769558291
|
0.00006
|
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
|
NM_000038.6(APC):c.7574G>A (p.Arg2525His)
|
rs762034315
|
0.00006
|
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
|
NM_000038.6(APC):c.789T>A (p.Gly263=)
|
rs767053295
|
0.00006
|
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
0.00006
|
|
NM_000040.3(APOC3):c.126C>T (p.Thr42=)
|
rs533891893
|
0.00006
|
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
|
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val)
|
rs746709782
|
0.00006
|
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00006
|
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
|
NM_000051.4(ATM):c.6486C>T (p.Ser2162=)
|
rs138166710
|
0.00006
|
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
|
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)
|
rs539585071
|
0.00006
|
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00006
|
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
|
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)
|
rs769655497
|
0.00006
|
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
|
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)
|
rs532177115
|
0.00006
|
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
|
NM_000053.4(ATP7B):c.4022-19C>T
|
rs369736734
|
0.00006
|
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
|
NM_000054.7(AVPR2):c.1031G>A (p.Arg344Gln)
|
rs368996823
|
0.00006
|
|
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys)
|
rs199660374
|
0.00006
|
|
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)
|
rs184657475
|
0.00006
|
|
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)
|
rs587779893
|
0.00006
|
|
NM_000057.4(BLM):c.808G>A (p.Glu270Lys)
|
rs762053925
|
0.00006
|
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00006
|
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
|
NM_000059.4(BRCA2):c.2213G>A (p.Cys738Tyr)
|
rs1219265131
|
0.00006
|
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
|
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=)
|
rs56331088
|
0.00006
|
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
rs374191973
|
0.00006
|
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
|
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=)
|
rs202022822
|
0.00006
|
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
|
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)
|
rs80358716
|
0.00006
|
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
rs587782601
|
0.00006
|
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
|
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=)
|
rs587780870
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
|
NM_000059.4(BRCA2):c.8125A>G (p.Ser2709Gly)
|
rs398122596
|
0.00006
|
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
|
NM_000059.4(BRCA2):c.9502-17T>C
|
rs752544229
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)
|
rs80338782
|
0.00006
|
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
|
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)
|
rs138857720
|
0.00006
|
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
|
NM_000071.3(CBS):c.1413G>C (p.Gly471=)
|
rs777859460
|
0.00006
|
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
|
NM_000081.4(LYST):c.6149G>A (p.Arg2050Gln)
|
rs376311093
|
0.00006
|
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
|
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=)
|
rs367872728
|
0.00006
|
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
|
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=)
|
rs200917999
|
0.00006
|
|
NM_000090.4(COL3A1):c.546C>T (p.Pro182=)
|
rs754584062
|
0.00006
|
|
NM_000091.5(COL4A3):c.16G>T (p.Ala6Ser)
|
rs770024296
|
0.00006
|
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
0.00006
|
|
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
|
rs376248130
|
0.00006
|
|
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=)
|
rs150591401
|
0.00006
|
|
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)
|
rs201966320
|
0.00006
|
|
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)
|
rs179363892
|
0.00006
|
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
|
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)
|
rs59086055
|
0.00006
|
|
NM_000110.4(DPYD):c.2579del (p.Gln860fs)
|
rs746991079
|
0.00006
|
|
NM_000117.3(EMD):c.188-12C>T
|
rs371016049
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
|
NM_000129.4(F13A1):c.799-13C>T
|
rs188094485
|
0.00006
|
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
|
NM_000136.3(FANCC):c.767A>G (p.His256Arg)
|
rs730881716
|
0.00006
|
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
|
NM_000138.5(FBN1):c.273T>C (p.Asp91=)
|
rs375450755
|
0.00006
|
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
|
NM_000138.5(FBN1):c.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
|
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
|
rs763094223
|
0.00006
|
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
|
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)
|
rs751975987
|
0.00006
|
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
|
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)
|
rs367658155
|
0.00006
|
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
|
NM_000174.5(GP9):c.195C>T (p.Ser65=)
|
rs754789523
|
0.00006
|
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
|
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)
|
rs587781616
|
0.00006
|
|
NM_000179.3(MSH6):c.2724A>G (p.Glu908=)
|
rs35389622
|
0.00006
|
|
NM_000179.3(MSH6):c.2964C>A (p.Arg988=)
|
rs144288981
|
0.00006
|
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
|
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)
|
rs773763465
|
0.00006
|
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
|
NM_000190.4(HMBS):c.745G>A (p.Ala249Thr)
|
rs763844879
|
0.00006
|
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
|
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)
|
rs764420988
|
0.00006
|
|
NM_000215.4(JAK3):c.2350+6C>T
|
rs200193137
|
0.00006
|
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
|
NM_000228.3(LAMB3):c.1721G>A (p.Arg574His)
|
rs370280436
|
0.00006
|
|
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)
|
rs146794392
|
0.00006
|
|
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser)
|
rs747046381
|
0.00006
|
|
NM_000237.3(LPL):c.111C>T (p.Ile37=)
|
rs374067507
|
0.00006
|
|
NM_000237.3(LPL):c.1123A>G (p.Asn375Asp)
|
rs780133524
|
0.00006
|
|
NM_000237.3(LPL):c.292G>A (p.Ala98Thr)
|
rs145657341
|
0.00006
|
|
NM_000237.3(LPL):c.835C>G (p.Leu279Val)
|
rs371282890
|
0.00006
|
|
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=)
|
rs140366118
|
0.00006
|
|
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=)
|
rs146309583
|
0.00006
|
|
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys)
|
rs141117135
|
0.00006
|
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
|
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)
|
rs141288548
|
0.00006
|
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
|
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile)
|
rs63751069
|
0.00006
|
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
|
NM_000249.4(MLH1):c.552A>T (p.Ser184=)
|
rs35225190
|
0.00006
|
|
NM_000249.4(MLH1):c.69A>G (p.Glu23=)
|
rs63750555
|
0.00006
|
|
NM_000249.4(MLH1):c.954C>T (p.His318=)
|
rs146777069
|
0.00006
|
|
NM_000251.3(MSH2):c.1077-7A>G
|
rs370807334
|
0.00006
|
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
|
NM_000251.3(MSH2):c.2634+7C>G
|
rs905179122
|
0.00006
|
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
|
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys)
|
rs368770848
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00006
|
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
|
NM_000270.4(PNP):c.701G>C (p.Arg234Pro)
|
rs104894451
|
0.00006
|
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
|
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)
|
rs745803719
|
0.00006
|
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
|
NM_000291.4(PGK1):c.375T>A (p.His125Gln)
|
rs142134146
|
0.00006
|
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
|
NM_000303.3(PMM2):c.426T>G (p.Ile142Met)
|
rs781610241
|
0.00006
|
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
|
NM_000305.3(PON2):c.885G>A (p.Pro295=)
|
rs778196758
|
0.00006
|
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
|
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg)
|
rs377572814
|
0.00006
|
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
|
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=)
|
rs41312407
|
0.00006
|
|
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)
|
rs373118001
|
0.00006
|
|
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)
|
rs771018427
|
0.00006
|
|
NM_000337.6(SGCD):c.295-20C>A
|
rs144250417
|
0.00006
|
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
|
NM_000352.6(ABCC8):c.1924-13A>G
|
rs369865762
|
0.00006
|
|
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)
|
rs142620721
|
0.00006
|
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
|
NM_000369.5(TSHR):c.1574T>C (p.Phe525Ser)
|
rs200138601
|
0.00006
|
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
|
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg)
|
rs1060502848
|
0.00006
|
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
|
NM_000400.4(ERCC2):c.2015C>T (p.Thr672Met)
|
rs200438494
|
0.00006
|
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
|
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)
|
rs104893843
|
0.00006
|
|
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)
|
rs148499544
|
0.00006
|
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
|
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)
|
rs560139751
|
0.00006
|
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
|
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)
|
rs370843758
|
0.00006
|
|
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn)
|
rs763602970
|
0.00006
|
|
NM_000441.2(SLC26A4):c.-4+5G>A
|
rs727503425
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
|
NM_000447.3(PSEN2):c.53C>T (p.Thr18Met)
|
rs143061887
|
0.00006
|
|
NM_000451.4(SHOX):c.547G>A (p.Val183Ile)
|
rs752189039
|
0.00006
|
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
|
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)
|
rs759473833
|
0.00006
|
|
NM_000455.5(STK11):c.1257C>T (p.Ser419=)
|
rs375328708
|
0.00006
|
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
|
NM_000455.5(STK11):c.921-10G>A
|
rs183406870
|
0.00006
|
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
|
NM_000458.4(HNF1B):c.1339+17G>A
|
rs374854968
|
0.00006
|
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00006
|
|
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu)
|
rs759601398
|
0.00006
|
|
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)
|
rs375515606
|
0.00006
|
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
|
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)
|
rs376256852
|
0.00006
|
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
|
NM_000465.4(BARD1):c.665C>T (p.Ala222Val)
|
rs142086060
|
0.00006
|
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
|
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
|
rs63750066
|
0.00006
|
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
0.00006
|
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
|
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)
|
rs377731410
|
0.00006
|
|
NM_000492.4(CFTR):c.2145A>C (p.Gln715His)
|
rs141235765
|
0.00006
|
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
|
NM_000492.4(CFTR):c.2604A>G (p.Val868=)
|
rs1800105
|
0.00006
|
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
|
NM_000492.4(CFTR):c.3783G>T (p.Leu1261=)
|
rs771812900
|
0.00006
|
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
|
NM_000492.4(CFTR):c.662C>T (p.Ala221Val)
|
rs752432390
|
0.00006
|
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
|
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys)
|
rs373998255
|
0.00006
|
|
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr)
|
rs764388204
|
0.00006
|
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
|
NM_000518.5(HBB):c.*132C>A
|
rs1420779550
|
0.00006
|
|
NM_000518.5(HBB):c.*73T>C
|
rs1265505530
|
0.00006
|
|
NM_000518.5(HBB):c.316-189A>G
|
rs1034207896
|
0.00006
|
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
|
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)
|
rs780563386
|
0.00006
|
|
NM_000527.5(LDLR):c.108C>T (p.Asp36=)
|
rs373144619
|
0.00006
|
|
NM_000527.5(LDLR):c.1428C>T (p.Pro476=)
|
rs543392107
|
0.00006
|
|
NM_000527.5(LDLR):c.147C>T (p.Ser49=)
|
rs138078086
|
0.00006
|
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
|
NM_000527.5(LDLR):c.1887C>T (p.Phe629=)
|
rs751234870
|
0.00006
|
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
|
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)
|
rs13306510
|
0.00006
|
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
|
NM_000535.7(PMS2):c.1128A>C (p.Pro376=)
|
rs367774545
|
0.00006
|
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
|
NM_000535.7(PMS2):c.1500C>T (p.Ser500=)
|
rs116094787
|
0.00006
|
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
|
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln)
|
rs869312801
|
0.00006
|
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
|
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)
|
rs766887342
|
0.00006
|
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
|
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)
|
rs760235443
|
0.00006
|
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
|
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp)
|
rs376832928
|
0.00006
|
|
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)
|
rs568123980
|
0.00006
|
|
NM_000545.8(HNF1A):c.954C>T (p.His318=)
|
rs193922607
|
0.00006
|
|
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)
|
rs17882252
|
0.00006
|
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00006
|
|
NM_000546.6(TP53):c.618G>A (p.Leu206=)
|
rs142813240
|
0.00006
|
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
|
NM_000552.5(VWF):c.1324C>T (p.Arg442Cys)
|
rs148247755
|
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_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
|
NM_000942.5(PPIB):c.224A>G (p.Asn75Ser)
|
rs202087362
|
0.00006
|
|
NM_001003841.3(SLC6A19):c.1117G>A (p.Ala373Thr)
|
rs775834401
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)
|
rs148364390
|
0.00006
|
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
|
NM_001005242.3(PKP2):c.900G>A (p.Thr300=)
|
rs140235564
|
0.00006
|
|
NM_001018005.2(TPM1):c.493-18T>G
|
rs377726678
|
0.00006
|
|
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln)
|
rs755748094
|
0.00006
|
|
NM_001035.3(RYR2):c.10494+13T>G
|
rs796484463
|
0.00006
|
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
|
NM_001035.3(RYR2):c.1962-12G>A
|
rs368241264
|
0.00006
|
|
NM_001035.3(RYR2):c.2643A>C (p.Ile881=)
|
rs751869107
|
0.00006
|
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
|
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=)
|
rs368826662
|
0.00006
|
|
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=)
|
rs368207198
|
0.00006
|
|
NM_001035.3(RYR2):c.8437-3T>C
|
rs924080705
|
0.00006
|
|
NM_001037.5(SCN1B):c.448+334G>A
|
rs766204907
|
0.00006
|
|
NM_001037.5(SCN1B):c.448+8G>C
|
rs200222933
|
0.00006
|
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
0.00006
|
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
|
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr)
|
rs587782263
|
0.00006
|
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
|
NM_001048174.2(MUTYH):c.897T>C (p.Pro299=)
|
rs149334084
|
0.00006
|
|
NM_001079802.2(FKTN):c.781-9T>C
|
rs370564232
|
0.00006
|
|
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)
|
rs755092516
|
0.00006
|
|
NM_001079872.2(CUL4B):c.*7G>A
|
rs769730471
|
0.00006
|
|
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile)
|
rs746522359
|
0.00006
|
|
NM_001081.4(CUBN):c.7400A>G (p.Asn2467Ser)
|
rs200197243
|
0.00006
|
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
|
NM_001085049.3(MRAS):c.291G>A (p.Lys97=)
|
rs548156011
|
0.00006
|
|
NM_001099287.2(NIPAL4):c.277+5G>A
|
rs376074083
|
0.00006
|
|
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)
|
rs375688767
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.876G>A (p.Pro292=)
|
rs543905658
|
0.00006
|
|
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=)
|
rs137890030
|
0.00006
|
|
NM_001103.4(ACTN2):c.354C>T (p.Gly118=)
|
rs539250948
|
0.00006
|
|
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=)
|
rs749565466
|
0.00006
|
|
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=)
|
rs145489423
|
0.00006
|
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
|
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)
|
rs780320724
|
0.00006
|
|
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=)
|
rs183948518
|
0.00006
|
|
NM_001110792.2(MECP2):c.414-20C>G
|
rs368684221
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser)
|
rs758924907
|
0.00006
|
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
|
NM_001134363.3(RBM20):c.348C>T (p.Ala116=)
|
rs569709951
|
0.00006
|
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn)
|
rs540445580
|
0.00006
|
|
NM_001134793.2(HYLS1):c.712C>T (p.Arg238Cys)
|
rs367894289
|
0.00006
|
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
|
NM_001143854.2(RPH3A):c.229G>A (p.Gly77Arg)
|
rs375430419
|
0.00006
|
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
|
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)
|
rs143043717
|
0.00006
|
|
NM_001148.6(ANK2):c.2679A>G (p.Gly893=)
|
rs766183219
|
0.00006
|
|
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)
|
rs534934297
|
0.00006
|
|
NM_001148.6(ANK2):c.8484T>C (p.Asp2828=)
|
rs371140760
|
0.00006
|
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
|
NM_001164508.2(NEB):c.78+6G>A
|
rs376085885
|
0.00006
|
|
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln)
|
rs557950249
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
|
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr)
|
rs140947675
|
0.00006
|
|
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)
|
rs140102105
|
0.00006
|
|
NM_001193315.2(VIPAS39):c.1363C>T (p.Arg455Trp)
|
rs149168488
|
0.00006
|
|
NM_001199397.3(NEK1):c.3437G>A (p.Arg1146Lys)
|
rs751475605
|
0.00006
|
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys)
|
rs756142773
|
0.00006
|
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
|
NM_001257096.2(PAX1):c.*204G>A
|
rs748872583
|
0.00006
|
|
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)
|
rs764179161
|
0.00006
|
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
|
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)
|
rs397517487
|
0.00006
|
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00006
|
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
|
NM_001267550.2(TTN):c.24785-16A>G
|
rs201107387
|
0.00006
|
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00006
|
|
NM_001267550.2(TTN):c.28462+11T>C
|
rs563062273
|
0.00006
|
|
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)
|
rs375735354
|
0.00006
|
|
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=)
|
rs375519815
|
0.00006
|
|
NM_001267550.2(TTN):c.39547+19T>C
|
rs559113689
|
0.00006
|
|
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser)
|
rs774245300
|
0.00006
|
|
NM_001267550.2(TTN):c.4462A>G (p.Thr1488Ala)
|
rs146732280
|
0.00006
|
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
|
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)
|
rs768914789
|
0.00006
|
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
|
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)
|
rs573695008
|
0.00006
|
|
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser)
|
rs758527900
|
0.00006
|
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
|
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln)
|
rs202126861
|
0.00006
|
|
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)
|
rs138367112
|
0.00006
|
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
|
NM_001267550.2(TTN):c.58732+6C>T
|
rs778350235
|
0.00006
|
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
|
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)
|
rs761241302
|
0.00006
|
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
|
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)
|
rs183056142
|
0.00006
|
|
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile)
|
rs200878877
|
0.00006
|
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
|
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)
|
rs201724962
|
0.00006
|
|
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)
|
rs368914555
|
0.00006
|
|
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu)
|
rs368058280
|
0.00006
|
|
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe)
|
rs3813244
|
0.00006
|
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
|
NM_001267550.2(TTN):c.80733T>G (p.Ile26911Met)
|
rs371965190
|
0.00006
|
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
|
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)
|
rs184078016
|
0.00006
|
|
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)
|
rs139992576
|
0.00006
|
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
|
NM_001267550.2(TTN):c.98544C>G (p.Ser32848=)
|
rs756591209
|
0.00006
|
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
|
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)
|
rs1391578014
|
0.00006
|
|
NM_001330.5(CTF1):c.55C>A (p.Leu19Ile)
|
rs544073469
|
0.00006
|
|
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)
|
rs104893970
|
0.00006
|
|
NM_001358530.2(MOCS1):c.418+1G>A
|
rs141982812
|
0.00006
|
|
NM_001358921.2(COQ2):c.232A>G (p.Met78Val)
|
rs778094136
|
0.00006
|
|
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)
|
rs61757582
|
0.00006
|
|
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)
|
rs140400648
|
0.00006
|
|
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His)
|
rs201150384
|
0.00006
|
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
|
NM_001365276.2(TNXB):c.85C>T (p.Arg29Trp)
|
rs368512272
|
0.00006
|
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
|
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr)
|
rs202229713
|
0.00006
|
|
NM_001367624.2(ZNF469):c.992C>T (p.Ala331Val)
|
rs149485731
|
0.00006
|
|
NM_001369268.1(ACAN):c.1429+15G>A
|
rs762554069
|
0.00006
|
|
NM_001369268.1(ACAN):c.551C>T (p.Thr184Met)
|
rs771509541
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
|
NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)
|
rs771408008
|
0.00006
|
|
NM_001378452.1(ITPR1):c.7630G>A (p.Val2544Ile)
|
rs371726673
|
0.00006
|
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
|
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)
|
rs757364858
|
0.00006
|
|
NM_001378454.1(ALMS1):c.1237+9C>G
|
rs201471551
|
0.00006
|
|
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)
|
rs202002052
|
0.00006
|
|
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe)
|
rs538743256
|
0.00006
|
|
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys)
|
rs371893544
|
0.00006
|
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
|
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
|
rs45607436
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
|
NM_001378778.1(MPDZ):c.2776G>A (p.Ala926Thr)
|
rs144992780
|
0.00006
|
|
NM_001379610.1(SPINK1):c.-15C>T
|
rs148434824
|
0.00006
|
|
NM_001382567.1(STIM1):c.1906C>G (p.Pro636Ala)
|
rs139432975
|
0.00006
|
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
|
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp)
|
rs779045040
|
0.00006
|
|
NM_001386795.1(DTNA):c.603+15T>C
|
rs367772080
|
0.00006
|
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
|
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr)
|
rs145891515
|
0.00006
|
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
|
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=)
|
rs559639511
|
0.00006
|
|
NM_001458.5(FLNC):c.651C>T (p.Asn217=)
|
rs370425863
|
0.00006
|
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
|
NM_001606.5(ABCA2):c.746G>A (p.Arg249Gln)
|
rs752675380
|
0.00006
|
|
NM_001677.4(ATP1B1):c.781G>A (p.Val261Ile)
|
rs772382642
|
0.00006
|
|
NM_001846.4(COL4A2):c.1465G>A (p.Asp489Asn)
|
rs777186602
|
0.00006
|
|
NM_001852.4(COL9A2):c.1871-8G>T
|
rs372902486
|
0.00006
|
|
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)
|
rs537170841
|
0.00006
|
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
|
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val)
|
rs753866589
|
0.00006
|
|
NM_001918.5(DBT):c.1281+5A>G
|
rs199571242
|
0.00006
|
|
NM_001927.4(DES):c.1024-7C>G
|
rs779098835
|
0.00006
|
|
NM_001943.5(DSG2):c.1089G>A (p.Ser363=)
|
rs372598337
|
0.00006
|
|
NM_001943.5(DSG2):c.1491C>T (p.Pro497=)
|
rs587780928
|
0.00006
|
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
|
NM_002025.4(AFF2):c.896C>T (p.Pro299Leu)
|
rs368459122
|
0.00006
|
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
|
NM_002230.4(JUP):c.561C>T (p.Ala187=)
|
rs139552714
|
0.00006
|
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
|
NM_002427.4(MMP13):c.1117C>A (p.Leu373Met)
|
rs112373498
|
0.00006
|
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
|
NM_002471.4(MYH6):c.2293-19A>G
|
rs375891567
|
0.00006
|
|
NM_002471.4(MYH6):c.2600A>G (p.Lys867Arg)
|
rs143284278
|
0.00006
|
|
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)
|
rs397516762
|
0.00006
|
|
NM_002471.4(MYH6):c.4245A>G (p.Ser1415=)
|
rs779697115
|
0.00006
|
|
NM_002471.4(MYH6):c.4525+13T>C
|
rs397516770
|
0.00006
|
|
NM_002474.3(MYH11):c.1301G>A (p.Arg434His)
|
rs754636432
|
0.00006
|
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
|
NM_002474.3(MYH11):c.3858+13C>T
|
rs375738696
|
0.00006
|
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
|
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=)
|
rs190675029
|
0.00006
|
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
|
NM_002485.5(NBN):c.930T>A (p.Ile310=)
|
rs142813526
|
0.00006
|
|
NM_002524.5(NRAS):c.36T>G (p.Gly12=)
|
rs759764705
|
0.00006
|
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
|
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val)
|
rs782403774
|
0.00006
|
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
|
NM_002691.4(POLD1):c.1893-6A>C
|
rs963949260
|
0.00006
|
|
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp)
|
rs780138978
|
0.00006
|
|
NM_002691.4(POLD1):c.2700C>T (p.His900=)
|
rs769965495
|
0.00006
|
|
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe)
|
rs140858857
|
0.00006
|
|
NM_002691.4(POLD1):c.511G>T (p.Ala171Ser)
|
rs748486492
|
0.00006
|
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
|
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu)
|
rs202171795
|
0.00006
|
|
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=)
|
rs201774040
|
0.00006
|
|
NM_002755.4(MAP2K1):c.264G>A (p.Lys88=)
|
rs7494832
|
0.00006
|
|
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu)
|
rs201550522
|
0.00006
|
|
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly)
|
rs376907511
|
0.00006
|
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
|
NM_002834.5(PTPN11):c.853+17C>T
|
rs746692191
|
0.00006
|
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00006
|
|
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)
|
rs376855484
|
0.00006
|
|
NM_002878.4(RAD51D):c.957G>A (p.Gln319=)
|
rs147669627
|
0.00006
|
|
NM_002880.4(RAF1):c.1107C>T (p.His369=)
|
rs761947194
|
0.00006
|
|
NM_002880.4(RAF1):c.1371-15C>A
|
rs371491379
|
0.00006
|
|
NM_002972.4(SBF1):c.956A>G (p.His319Arg)
|
rs372068556
|
0.00006
|
|
NM_003036.4(SKI):c.360C>T (p.Arg120=)
|
rs375024753
|
0.00006
|
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
|
NM_003124.5(SPR):c.448A>G (p.Arg150Gly)
|
rs104893665
|
0.00006
|
|
NM_003239.5(TGFB3):c.504C>T (p.Ile168=)
|
rs148029842
|
0.00006
|
|
NM_003239.5(TGFB3):c.96C>T (p.Phe32=)
|
rs748977151
|
0.00006
|
|
NM_003280.3(TNNC1):c.24+10A>G
|
rs770581962
|
0.00006
|
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
|
NM_003701.4(TNFSF11):c.544G>A (p.Val182Met)
|
rs139991365
|
0.00006
|
|
NM_003722.5(TP63):c.2021G>A (p.Arg674His)
|
rs34713855
|
0.00006
|
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
|
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg)
|
rs752974260
|
0.00006
|
|
NM_003793.4(CTSF):c.734G>A (p.Arg245His)
|
rs767931300
|
0.00006
|
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
|
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
|
NM_004281.4(BAG3):c.693G>A (p.Thr231=)
|
rs144034433
|
0.00006
|
|
NM_004333.6(BRAF):c.1433-5T>C
|
rs587780861
|
0.00006
|
|
NM_004333.6(BRAF):c.505-12A>G
|
rs377433501
|
0.00006
|
|
NM_004333.6(BRAF):c.52C>G (p.Leu18Val)
|
rs1222192591
|
0.00006
|
|
NM_004341.5(CAD):c.5158G>A (p.Glu1720Lys)
|
rs749076924
|
0.00006
|
|
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
|
NM_004360.5(CDH1):c.2136G>T (p.Gly712=)
|
rs763402728
|
0.00006
|
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
|
NM_004360.5(CDH1):c.2637C>T (p.Gly879=)
|
rs141001592
|
0.00006
|
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
|
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)
|
rs138573287
|
0.00006
|
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
|
NM_004415.4(DSP):c.2437-20T>G
|
rs778134276
|
0.00006
|
|
NM_004415.4(DSP):c.2630+19G>A
|
rs139830549
|
0.00006
|
|
NM_004415.4(DSP):c.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
|
NM_004415.4(DSP):c.8268A>C (p.Ile2756=)
|
rs397516963
|
0.00006
|
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00006
|
|
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser)
|
rs760555508
|
0.00006
|
|
NM_004612.4(TGFBR1):c.574+18C>T
|
rs370062838
|
0.00006
|
|
NM_004628.5(XPC):c.2251-1G>C
|
rs754673606
|
0.00006
|
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
|
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)
|
rs749341977
|
0.00006
|
|
NM_004655.4(AXIN2):c.1201-7C>T
|
rs760667639
|
0.00006
|
|
NM_004655.4(AXIN2):c.2478G>T (p.Thr826=)
|
rs148159432
|
0.00006
|
|
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val)
|
rs201531372
|
0.00006
|
|
NM_004667.6(HERC2):c.4091G>A (p.Cys1364Tyr)
|
rs923003032
|
0.00006
|
|
NM_004947.5(DOCK3):c.4825C>T (p.Arg1609Trp)
|
rs372827222
|
0.00006
|
|
NM_004977.3(KCNC3):c.1773C>T (p.Ser591=)
|
rs1005301925
|
0.00006
|
|
NM_004985.5(KRAS):c.451-5560T>A
|
rs373169526
|
0.00006
|
|
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)
|
rs137853134
|
0.00006
|
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
|
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)
|
rs2227986
|
0.00006
|
|
NM_005188.4(CBL):c.2252-8T>C
|
rs555179188
|
0.00006
|
|
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)
|
rs567899708
|
0.00006
|
|
NM_005343.4(HRAS):c.369C>T (p.Arg123=)
|
rs200945755
|
0.00006
|
|
NM_005343.4(HRAS):c.42G>A (p.Val14=)
|
rs777038147
|
0.00006
|
|
NM_005359.6(SMAD4):c.606C>G (p.Ala202=)
|
rs780665234
|
0.00006
|
|
NM_005477.3(HCN4):c.2634C>G (p.Ser878=)
|
rs748478312
|
0.00006
|
|
NM_005562.3(LAMC2):c.3014A>G (p.Gln1005Arg)
|
rs781587803
|
0.00006
|
|
NM_005585.5(SMAD6):c.93T>C (p.Gly31=)
|
rs780659575
|
0.00006
|
|
NM_005591.4(MRE11):c.358A>G (p.Ile120Val)
|
rs372131911
|
0.00006
|
|
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn)
|
rs368403414
|
0.00006
|
|
NM_005591.4(MRE11):c.777G>A (p.Gln259=)
|
rs774144789
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr)
|
rs781962672
|
0.00006
|
|
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser)
|
rs190222208
|
0.00006
|
|
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
|
rs767494615
|
0.00006
|
|
NM_005677.4(COLQ):c.1019G>A (p.Arg340His)
|
rs375225755
|
0.00006
|
|
NM_005732.4(RAD50):c.130-10A>G
|
rs200760698
|
0.00006
|
|
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)
|
rs201120953
|
0.00006
|
|
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp)
|
rs369560280
|
0.00006
|
|
NM_005732.4(RAD50):c.2658A>G (p.Gln886=)
|
rs768654795
|
0.00006
|
|
NM_005732.4(RAD50):c.610A>G (p.Lys204Glu)
|
rs202197835
|
0.00006
|
|
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)
|
rs546600149
|
0.00006
|
|
NM_005902.4(SMAD3):c.990C>T (p.Thr330=)
|
rs774470515
|
0.00006
|
|
NM_006182.4(DDR2):c.187C>G (p.Leu63Val)
|
rs144594252
|
0.00006
|
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
|
NM_006231.4(POLE):c.1794+5C>T
|
rs200095915
|
0.00006
|
|
NM_006231.4(POLE):c.3459+8C>T
|
rs375852759
|
0.00006
|
|
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser)
|
rs749342382
|
0.00006
|
|
NM_006231.4(POLE):c.6810C>T (p.Leu2270=)
|
rs757092767
|
0.00006
|
|
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys)
|
rs770812712
|
0.00006
|
|
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
|
rs200611081
|
0.00006
|
|
NM_006270.5(RRAS):c.409G>A (p.Val137Ile)
|
rs757080959
|
0.00006
|
|
NM_006446.5(SLCO1B1):c.757C>T (p.Arg253Ter)
|
rs183501729
|
0.00006
|
|
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)
|
rs199562456
|
0.00006
|
|
NM_006502.3(POLH):c.332G>A (p.Arg111His)
|
rs758423288
|
0.00006
|
|
NM_006506.5(RASA2):c.-15G>C
|
rs767937276
|
0.00006
|
|
NM_006506.5(RASA2):c.1942G>A (p.Ala648Thr)
|
rs769395361
|
0.00006
|
|
NM_006506.5(RASA2):c.519T>C (p.Leu173=)
|
rs956512674
|
0.00006
|
|
NM_006514.4(SCN10A):c.3705G>A (p.Ala1235=)
|
rs147376215
|
0.00006
|
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
|
NM_006767.4(LZTR1):c.*12G>A
|
rs561664122
|
0.00006
|
|
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
|
rs368649599
|
0.00006
|
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
|
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)
|
rs139261473
|
0.00006
|
|
NM_006767.4(LZTR1):c.2325+17G>A
|
rs570834637
|
0.00006
|
|
NM_006767.4(LZTR1):c.372C>T (p.Val124=)
|
rs371891909
|
0.00006
|
|
NM_006767.4(LZTR1):c.593+11G>A
|
rs200649588
|
0.00006
|
|
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)
|
rs121918378
|
0.00006
|
|
NM_006912.6(RIT1):c.106+15C>T
|
rs755316223
|
0.00006
|
|
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile)
|
rs373143128
|
0.00006
|
|
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)
|
rs369410641
|
0.00006
|
|
NM_006939.4(SOS2):c.2959-16A>G
|
rs147830734
|
0.00006
|
|
NM_006939.4(SOS2):c.720C>T (p.Ile240=)
|
rs373852615
|
0.00006
|
|
NM_007078.3(LDB3):c.1521C>T (p.Thr507=)
|
rs200838004
|
0.00006
|
|
NM_007078.3(LDB3):c.689+9C>T
|
rs727503124
|
0.00006
|
|
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)
|
rs121913660
|
0.00006
|
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
|
NM_007294.4(BRCA1):c.135-3T>C
|
rs759417413
|
0.00006
|
|
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)
|
rs533802049
|
0.00006
|
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
0.00006
|
|
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu)
|
rs80356928
|
0.00006
|
|
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
|
rs371631805
|
0.00006
|
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
|
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
|
NM_007294.4(BRCA1):c.301+7G>A
|
rs80358113
|
0.00006
|
|
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)
|
rs397507213
|
0.00006
|
|
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu)
|
rs55909400
|
0.00006
|
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
|
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)
|
rs80357353
|
0.00006
|
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
|
NM_007294.4(BRCA1):c.795T>C (p.Ser265=)
|
rs201441987
|
0.00006
|
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
|
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His)
|
rs200215822
|
0.00006
|
|
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)
|
rs200015085
|
0.00006
|
|
NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter)
|
rs200217371
|
0.00006
|
|
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)
|
rs141952252
|
0.00006
|
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
|
NM_013975.4(LIG3):c.1028G>A (p.Arg343Gln)
|
rs370882864
|
0.00006
|
|
NM_013975.4(LIG3):c.452G>A (p.Arg151Gln)
|
rs537076655
|
0.00006
|
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)
|
rs137853146
|
0.00006
|
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
|
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)
|
rs147484763
|
0.00006
|
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
|
NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln)
|
rs189054608
|
0.00006
|
|
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly)
|
rs748354087
|
0.00006
|
|
NM_015141.4(GPD1L):c.996C>T (p.Tyr332=)
|
rs149423659
|
0.00006
|
|
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
|
NM_015311.3(OBSL1):c.1388G>A (p.Arg463His)
|
rs767476866
|
0.00006
|
|
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His)
|
rs764291274
|
0.00006
|
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
|
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=)
|
rs138908999
|
0.00006
|
|
NM_015627.3(LDLRAP1):c.747+13G>A
|
rs202247605
|
0.00006
|
|
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=)
|
rs767867837
|
0.00006
|
|
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn)
|
rs780625068
|
0.00006
|
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
|
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys)
|
rs144934663
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2640C>T (p.His880=)
|
rs374946182
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3171+9G>A
|
rs377541723
|
0.00006
|
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
|
NM_018006.5(TRMU):c.82+5G>C
|
rs771076163
|
0.00006
|
|
NM_018112.3(TMEM38B):c.319T>C (p.Tyr107His)
|
rs746623351
|
0.00006
|
|
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)
|
rs546737191
|
0.00006
|
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
|
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys)
|
rs573971701
|
0.00006
|
|
NM_018979.4(WNK1):c.6616G>C (p.Val2206Leu)
|
rs141160595
|
0.00006
|
|
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
|
rs199956627
|
0.00006
|
|
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)
|
rs369437593
|
0.00006
|
|
NM_020117.11(LARS1):c.967A>G (p.Ile323Val)
|
rs754428997
|
0.00006
|
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
|
NM_020297.4(ABCC9):c.4212-18A>C
|
rs761501699
|
0.00006
|
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00006
|
|
NM_020365.5(EIF2B3):c.22A>T (p.Met8Leu)
|
rs182877101
|
0.00006
|
|
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)
|
rs375288744
|
0.00006
|
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
|
NM_020533.3(MCOLN1):c.1120G>A (p.Gly374Ser)
|
rs749914804
|
0.00006
|
|
NM_020631.6(PLEKHG5):c.768C>T (p.Ser256=)
|
rs780935962
|
0.00006
|
|
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)
|
rs387907308
|
0.00006
|
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
|
NM_022114.4(PRDM16):c.2295C>T (p.Gly765=)
|
rs376224745
|
0.00006
|
|
NM_022124.6(CDH23):c.419G>A (p.Arg140His)
|
rs201361229
|
0.00006
|
|
NM_022124.6(CDH23):c.4773G>A (p.Pro1591=)
|
rs376037961
|
0.00006
|
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
|
NM_024120.5(NDUFAF5):c.519+4A>G
|
rs373951216
|
0.00006
|
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
|
NM_024334.3(TMEM43):c.921G>A (p.Lys307=)
|
rs201771608
|
0.00006
|
|
NM_024422.6(DSC2):c.1638T>C (p.Asn546=)
|
rs145987522
|
0.00006
|
|
NM_024422.6(DSC2):c.2103G>A (p.Leu701=)
|
rs141726394
|
0.00006
|
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
0.00006
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
|
NM_024782.3(NHEJ1):c.805G>T (p.Ala269Ser)
|
rs150272598
|
0.00006
|
|
NM_024782.3(NHEJ1):c.806C>T (p.Ala269Val)
|
rs143112457
|
0.00006
|
|
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val)
|
rs144915847
|
0.00006
|
|
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)
|
rs201180239
|
0.00006
|
|
NM_030662.4(MAP2K2):c.*20G>A
|
rs377441764
|
0.00006
|
|
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)
|
rs730880514
|
0.00006
|
|
NM_030662.4(MAP2K2):c.451-7C>T
|
rs780396876
|
0.00006
|
|
NM_030662.4(MAP2K2):c.581-18G>A
|
rs372759920
|
0.00006
|
|
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met)
|
rs769471250
|
0.00006
|
|
NM_030662.4(MAP2K2):c.903C>T (p.Pro301=)
|
rs560316877
|
0.00006
|
|
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=)
|
rs774586341
|
0.00006
|
|
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)
|
rs75218052
|
0.00006
|
|
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu)
|
rs544857720
|
0.00006
|
|
NM_032040.5(CCDC8):c.67G>A (p.Val23Ile)
|
rs771970620
|
0.00006
|
|
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=)
|
rs544977115
|
0.00006
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
|
NM_032383.5(HPS3):c.713-17C>A
|
rs143594510
|
0.00006
|
|
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu)
|
rs137853826
|
0.00006
|
|
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr)
|
rs200811483
|
0.00006
|
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
|
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)
|
rs779637525
|
0.00006
|
|
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)
|
rs56385445
|
0.00006
|
|
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val)
|
rs193922712
|
0.00006
|
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
|
NM_053025.4(MYLK):c.1167G>A (p.Leu389=)
|
rs377631029
|
0.00006
|
|
NM_053025.4(MYLK):c.1752A>G (p.Leu584=)
|
rs775877814
|
0.00006
|
|
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile)
|
rs766027720
|
0.00006
|
|
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala)
|
rs750686734
|
0.00006
|
|
NM_053025.4(MYLK):c.3210C>T (p.Asp1070=)
|
rs200758888
|
0.00006
|
|
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met)
|
rs776975714
|
0.00006
|
|
NM_053025.4(MYLK):c.774-15C>G
|
rs371552521
|
0.00006
|
|
NM_054012.4(ASS1):c.470G>A (p.Arg157His)
|
rs121908637
|
0.00006
|
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
|
NM_058216.3(RAD51C):c.336G>A (p.Gly112=)
|
rs746122031
|
0.00006
|
|
NM_058216.3(RAD51C):c.351A>G (p.Leu117=)
|
rs370986989
|
0.00006
|
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
|
NM_058216.3(RAD51C):c.967T>C (p.Leu323=)
|
rs747727600
|
0.00006
|
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
|
NM_139076.3(ABRAXAS1):c.1214G>C (p.Arg405Pro)
|
rs200281698
|
0.00006
|
|
NM_139076.3(ABRAXAS1):c.18G>A (p.Thr6=)
|
rs752871858
|
0.00006
|
|
NM_139076.3(ABRAXAS1):c.476+5A>C
|
rs753767582
|
0.00006
|
|
NM_139276.3(STAT3):c.2091T>A (p.Ala697=)
|
rs200529713
|
0.00006
|
|
NM_144670.6(A2ML1):c.1284G>A (p.Pro428=)
|
rs753945399
|
0.00006
|
|
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu)
|
rs373823890
|
0.00006
|
|
NM_144670.6(A2ML1):c.1684-16C>T
|
rs761750413
|
0.00006
|
|
NM_144670.6(A2ML1):c.1746G>A (p.Gln582=)
|
rs767420128
|
0.00006
|
|
NM_144670.6(A2ML1):c.2441A>G (p.Asn814Ser)
|
rs760788803
|
0.00006
|
|
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=)
|
rs747281942
|
0.00006
|
|
NM_144670.6(A2ML1):c.4061+11_4061+12del
|
rs767089812
|
0.00006
|
|
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys)
|
rs199919065
|
0.00006
|
|
NM_144670.6(A2ML1):c.973G>A (p.Val325Met)
|
rs749156731
|
0.00006
|
|
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)
|
rs576243101
|
0.00006
|
|
NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp)
|
rs142008002
|
0.00006
|
|
NM_144991.3(TSPEAR):c.730C>T (p.Arg244Trp)
|
rs372173836
|
0.00006
|
|
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met)
|
rs748082671
|
0.00006
|
|
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)
|
rs201573515
|
0.00006
|
|
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
|
rs749389617
|
0.00006
|
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
|
NM_153704.6(TMEM67):c.651+5G>A
|
rs970248353
|
0.00006
|
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
|
NM_153717.3(EVC):c.940-150T>C
|
rs576076928
|
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_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
|
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp)
|
rs376280466
|
0.00006
|
|
NM_174936.4(PCSK9):c.1300C>T (p.Arg434Trp)
|
rs757143429
|
0.00006
|
|
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro)
|
rs746115963
|
0.00006
|
|
NM_174936.4(PCSK9):c.1727C>T (p.Pro576Leu)
|
rs72646525
|
0.00006
|
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
|
NM_174936.4(PCSK9):c.429C>T (p.Ile143=)
|
rs368511429
|
0.00006
|
|
NM_174936.4(PCSK9):c.657+8C>T
|
rs376502208
|
0.00006
|
|
NM_174936.4(PCSK9):c.658-9G>A
|
rs757194881
|
0.00006
|
|
NM_174936.4(PCSK9):c.939C>G (p.Thr313=)
|
rs534113572
|
0.00006
|
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
|
NM_175914.5(HNF4A):c.840G>A (p.Leu280=)
|
rs181559088
|
0.00006
|
|
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)
|
rs143700362
|
0.00006
|
|
NM_177924.5(ASAH1):c.968G>A (p.Arg323His)
|
rs144363797
|
0.00006
|
|
NM_178138.6(LHX3):c.251+9C>T
|
rs569254423
|
0.00006
|
|
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu)
|
rs770898049
|
0.00006
|
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
|
NM_183065.4(TMEM107):c.*686A>G
|
rs201558321
|
0.00006
|
|
NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro)
|
rs574927621
|
0.00006
|
|
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter)
|
rs188492864
|
0.00006
|
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00006
|
|
NM_203290.4(POLR1C):c.326G>A (p.Arg109His)
|
rs796052127
|
0.00006
|
|
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln)
|
rs771999994
|
0.00006
|
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
|
NM_207346.3(TSEN54):c.758G>A (p.Gly253Asp)
|
rs369801130
|
0.00006
|
|
NM_207346.3(TSEN54):c.881G>A (p.Arg294Gln)
|
rs150805182
|
0.00006
|
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
|
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)
|
rs373458753
|
0.00005
|
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
|
NM_000038.6(APC):c.7472T>C (p.Met2491Thr)
|
rs369075403
|
0.00005
|
|
NM_000038.6(APC):c.7878T>G (p.Thr2626=)
|
rs757020188
|
0.00005
|
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
|
NM_000051.4(ATM):c.2967T>C (p.Thr989=)
|
rs144145128
|
0.00005
|
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
|
NM_000053.4(ATP7B):c.1050G>A (p.Pro350=)
|
rs372191499
|
0.00005
|
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
|
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val)
|
rs55821741
|
0.00005
|
|
NM_000059.4(BRCA2):c.1749G>A (p.Leu583=)
|
rs780324598
|
0.00005
|
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
|
NM_000059.4(BRCA2):c.3771A>G (p.Pro1257=)
|
rs759855937
|
0.00005
|
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
|
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp)
|
rs80358771
|
0.00005
|
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
|
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr)
|
rs80358801
|
0.00005
|
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
|
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
|
rs56324666
|
0.00005
|
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
rs372188754
|
0.00005
|
|
NM_000059.4(BRCA2):c.7007+18T>A
|
rs377471435
|
0.00005
|
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
|
NM_000059.4(BRCA2):c.750G>A (p.Val250=)
|
rs143214959
|
0.00005
|
|
NM_000059.4(BRCA2):c.796T>C (p.Phe266Leu)
|
rs587782433
|
0.00005
|
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
|
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)
|
rs368576266
|
0.00005
|
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
|
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)
|
rs56204128
|
0.00005
|
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
|
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=)
|
rs80359811
|
0.00005
|
|
NM_000071.3(CBS):c.774C>T (p.Gly258=)
|
rs764925747
|
0.00005
|
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
|
NM_000090.4(COL3A1):c.1510-8C>A
|
rs982619356
|
0.00005
|
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
|
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=)
|
rs201419174
|
0.00005
|
|
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=)
|
rs368590323
|
0.00005
|
|
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)
|
rs542783734
|
0.00005
|
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
|
NM_000098.3(CPT2):c.98del (p.Gln33fs)
|
rs917744011
|
0.00005
|
|
NM_000110.4(DPYD):c.1280T>C (p.Val427Ala)
|
rs200693895
|
0.00005
|
|
NM_000112.4(SLC26A2):c.700-1G>C
|
rs200963884
|
0.00005
|
|
NM_000117.3(EMD):c.215A>T (p.Asp72Val)
|
rs794729021
|
0.00005
|
|
NM_000129.4(F13A1):c.691-1G>A
|
rs372296352
|
0.00005
|
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
|
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)
|
rs730881723
|
0.00005
|
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
|
NM_000136.3(FANCC):c.1425A>G (p.Thr475=)
|
rs199739450
|
0.00005
|
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
|
NM_000136.3(FANCC):c.1560C>T (p.His520=)
|
rs150020474
|
0.00005
|
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
|
NM_000138.5(FBN1):c.1147+7G>A
|
rs373156788
|
0.00005
|
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
|
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
|
rs764920787
|
0.00005
|
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
|
NM_000152.5(GAA):c.2481+128A>G
|
rs760656694
|
0.00005
|
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
|
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln)
|
rs370029131
|
0.00005
|
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
|
NM_000170.3(GLDC):c.2181C>T (p.Asp727=)
|
rs192045547
|
0.00005
|
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
|
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)
|
rs2229018
|
0.00005
|
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
|
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg)
|
rs754673524
|
0.00005
|
|
NM_000195.5(HPS1):c.2057A>G (p.Gln686Arg)
|
rs372189642
|
0.00005
|
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
|
NM_000202.8(IDS):c.851C>T (p.Pro284Leu)
|
rs782286857
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)
|
rs145974930
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)
|
rs200670744
|
0.00005
|
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
|
NM_000219.6(KCNE1):c.95G>A (p.Arg32His)
|
rs17857111
|
0.00005
|
|
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)
|
rs201551805
|
0.00005
|
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
|
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)
|
rs121912525
|
0.00005
|
|
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)
|
rs140686447
|
0.00005
|
|
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=)
|
rs753149816
|
0.00005
|
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
|
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
rs778686119
|
0.00005
|
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
|
NM_000249.4(MLH1):c.1128T>C (p.Asp376=)
|
rs267607824
|
0.00005
|
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
|
NM_000249.4(MLH1):c.1392T>C (p.Pro464=)
|
rs63750201
|
0.00005
|
|
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)
|
rs200830026
|
0.00005
|
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
|
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
|
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)
|
rs890670494
|
0.00005
|
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)
|
rs397515996
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
|
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)
|
rs773767253
|
0.00005
|
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
|
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)
|
rs751678290
|
0.00005
|
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
|
NM_000287.4(PEX6):c.2891dup (p.Gln965fs)
|
rs753862792
|
0.00005
|
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
|
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn)
|
rs137854544
|
0.00005
|
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
|
NM_000314.8(PTEN):c.*5T>C
|
rs1006891299
|
0.00005
|
|
NM_000314.8(PTEN):c.-837C>T
|
rs786204940
|
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.3337G>A (p.Asp1113Asn)
|
rs199473195
|
0.00005
|
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
|
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)
|
rs104894085
|
0.00005
|
|
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)
|
rs145265791
|
0.00005
|
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
0.00005
|
|
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)
|
rs375144225
|
0.00005
|
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
|
NM_000371.4(TTR):c.437A>G (p.Lys146Arg)
|
rs536294863
|
0.00005
|
|
NM_000384.3(APOB):c.10371C>T (p.Ser3457=)
|
rs139891446
|
0.00005
|
|
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)
|
rs778220325
|
0.00005
|
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
|
NM_000400.4(ERCC2):c.1867dup (p.Val623fs)
|
rs756630156
|
0.00005
|
|
NM_000416.3(IFNGR1):c.1389A>C (p.Leu463=)
|
rs779937662
|
0.00005
|
|
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser)
|
rs200341138
|
0.00005
|
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
0.00005
|
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
|
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser)
|
rs750834241
|
0.00005
|
|
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
|
rs1421964916
|
0.00005
|
|
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)
|
rs772962160
|
0.00005
|
|
NM_000451.4(SHOX):c.-65C>A
|
rs922062046
|
0.00005
|
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
|
NM_000455.5(STK11):c.237C>T (p.Ile79=)
|
rs751859508
|
0.00005
|
|
NM_000455.5(STK11):c.366G>A (p.Lys122=)
|
rs376969448
|
0.00005
|
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
|
NM_000455.5(STK11):c.678C>T (p.Asn226=)
|
rs748832988
|
0.00005
|
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
|
NM_000458.4(HNF1B):c.1239C>T (p.Val413=)
|
rs201113814
|
0.00005
|
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
|
NM_000465.4(BARD1):c.1353A>T (p.Gly451=)
|
rs369564500
|
0.00005
|
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
|
NM_000465.4(BARD1):c.1593C>T (p.Val531=)
|
rs564894014
|
0.00005
|
|
NM_000465.4(BARD1):c.2161G>A (p.Ala721Thr)
|
rs554708247
|
0.00005
|
|
NM_000465.4(BARD1):c.499C>T (p.Pro167Ser)
|
rs767584985
|
0.00005
|
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
|
NM_000465.4(BARD1):c.738A>G (p.Pro246=)
|
rs587780859
|
0.00005
|
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
|
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)
|
rs104894328
|
0.00005
|
|
NM_000492.4(CFTR):c.1209+12T>A
|
rs748021847
|
0.00005
|
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
|
NM_000492.4(CFTR):c.510T>A (p.Arg170=)
|
rs780772620
|
0.00005
|
|
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)
|
rs200151403
|
0.00005
|
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
|
NM_000518.5(HBB):c.316-30A>C
|
rs193922558
|
0.00005
|
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
|
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=)
|
rs933392379
|
0.00005
|
|
NM_000527.5(LDLR):c.1988-19T>C
|
rs369606726
|
0.00005
|
|
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp)
|
rs756864388
|
0.00005
|
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
|
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile)
|
rs370612538
|
0.00005
|
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
|
NM_000535.7(PMS2):c.71A>C (p.His24Pro)
|
rs139233015
|
0.00005
|
|
NM_000535.7(PMS2):c.738C>G (p.Pro246=)
|
rs202094399
|
0.00005
|
|
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val)
|
rs189249768
|
0.00005
|
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
|
NM_000546.6(TP53):c.*6T>A
|
rs369567704
|
0.00005
|
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
|
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)
|
rs61749402
|
0.00005
|
|
NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=)
|
rs773832706
|
0.00005
|
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
|
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=)
|
rs757236915
|
0.00005
|
|
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=)
|
rs371837699
|
0.00005
|
|
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)
|
rs759208930
|
0.00005
|
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
|
NM_001036.6(RYR3):c.6452C>T (p.Ala2151Val)
|
rs748718316
|
0.00005
|
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
|
NM_001042492.3(NF1):c.5523A>G (p.Gln1841=)
|
rs151046636
|
0.00005
|
|
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)
|
rs767327888
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
|
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp)
|
rs778769841
|
0.00005
|
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
|
NM_001082971.2(DDC):c.714+4A>T
|
rs200362242
|
0.00005
|
|
NM_001105206.3(LAMA4):c.5364C>A (p.Pro1788=)
|
rs370510960
|
0.00005
|
|
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)
|
rs61752371
|
0.00005
|
|
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg)
|
rs61749701
|
0.00005
|
|
NM_001126049.2(KLLN):c.-1029G>C
|
rs1465513356
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)
|
rs755099305
|
0.00005
|
|
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)
|
rs375698433
|
0.00005
|
|
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)
|
rs1446760969
|
0.00005
|
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
|
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)
|
rs752509098
|
0.00005
|
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
|
NM_001148.6(ANK2):c.4254C>T (p.Arg1418=)
|
rs778974823
|
0.00005
|
|
NM_001148.6(ANK2):c.7153C>T (p.Pro2385Ser)
|
rs372362152
|
0.00005
|
|
NM_001148.6(ANK2):c.7877C>T (p.Pro2626Leu)
|
rs754511955
|
0.00005
|
|
NM_001148.6(ANK2):c.813T>C (p.His271=)
|
rs774848857
|
0.00005
|
|
NM_001159699.2(FHL1):c.550-15C>A
|
rs764137409
|
0.00005
|
|
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys)
|
rs369875205
|
0.00005
|
|
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=)
|
rs774858072
|
0.00005
|
|
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)
|
rs200761047
|
0.00005
|
|
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
|
rs121909394
|
0.00005
|
|
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)
|
rs752287261
|
0.00005
|
|
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)
|
rs745800110
|
0.00005
|
|
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)
|
rs780364085
|
0.00005
|
|
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
|
rs570233664
|
0.00005
|
|
NM_001244710.2(GFPT1):c.1324+3G>A
|
rs367865496
|
0.00005
|
|
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)
|
rs192391568
|
0.00005
|
|
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)
|
rs765274398
|
0.00005
|
|
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His)
|
rs756575734
|
0.00005
|
|
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)
|
rs769165258
|
0.00005
|
|
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)
|
rs375652574
|
0.00005
|
|
NM_001267550.2(TTN):c.19152A>G (p.Pro6384=)
|
rs956813031
|
0.00005
|
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
|
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)
|
rs751157908
|
0.00005
|
|
NM_001267550.2(TTN):c.28269A>G (p.Thr9423=)
|
rs550056960
|
0.00005
|
|
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser)
|
rs565328082
|
0.00005
|
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
|
NM_001267550.2(TTN):c.50083C>A (p.Arg16695=)
|
rs751502842
|
0.00005
|
|
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn)
|
rs876658064
|
0.00005
|
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
|
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp)
|
rs764950995
|
0.00005
|
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
|
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser)
|
rs199787097
|
0.00005
|
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
|
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)
|
rs376737897
|
0.00005
|
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
|
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser)
|
rs750213547
|
0.00005
|
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
|
NM_001271938.2(MEGF8):c.4858G>A (p.Val1620Ile)
|
rs748419823
|
0.00005
|
|
NM_001271938.2(MEGF8):c.7468C>T (p.Arg2490Cys)
|
rs368024107
|
0.00005
|
|
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)
|
rs778692687
|
0.00005
|
|
NM_001283009.2(RTEL1):c.3823-14C>T
|
rs536966266
|
0.00005
|
|
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)
|
rs369284316
|
0.00005
|
|
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)
|
rs531038145
|
0.00005
|
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
|
NM_001360016.2(G6PD):c.690C>T (p.Ile230=)
|
rs781917123
|
0.00005
|
|
NM_001367624.2(ZNF469):c.6880G>A (p.Gly2294Arg)
|
rs773187176
|
0.00005
|
|
NM_001367624.2(ZNF469):c.9050G>A (p.Ser3017Asn)
|
rs1383712865
|
0.00005
|
|
NM_001370100.5(ZMYND11):c.1456C>T (p.His486Tyr)
|
rs964671911
|
0.00005
|
|
NM_001370466.1(NOD2):c.1308C>T (p.Pro436=)
|
rs200656015
|
0.00005
|
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
|
NM_001371986.1(UNC80):c.9224C>T (p.Pro3075Leu)
|
rs544636492
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr)
|
rs372806297
|
0.00005
|
|
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu)
|
rs375231416
|
0.00005
|
|
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=)
|
rs367772965
|
0.00005
|
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
|
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys)
|
rs780110659
|
0.00005
|
|
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)
|
rs370228166
|
0.00005
|
|
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=)
|
rs183407241
|
0.00005
|
|
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)
|
rs373286582
|
0.00005
|
|
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
|
rs201937708
|
0.00005
|
|
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
|
rs200432874
|
0.00005
|
|
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)
|
rs562740927
|
0.00005
|
|
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp)
|
rs749405895
|
0.00005
|
|
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=)
|
rs373742103
|
0.00005
|
|
NM_001386795.1(DTNA):c.675G>A (p.Leu225=)
|
rs376519672
|
0.00005
|
|
NM_001655.5(ARCN1):c.1301G>A (p.Arg434Gln)
|
rs146311433
|
0.00005
|
|
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)
|
rs370064150
|
0.00005
|
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
|
NM_002160.4(TNC):c.3413C>T (p.Thr1138Met)
|
rs371671996
|
0.00005
|
|
NM_002185.5(IL7R):c.539A>C (p.His180Pro)
|
rs193922642
|
0.00005
|
|
NM_002185.5(IL7R):c.617G>A (p.Arg206Gln)
|
rs193922644
|
0.00005
|
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
|
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)
|
rs147138337
|
0.00005
|
|
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His)
|
rs544358806
|
0.00005
|
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
|
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)
|
rs587781939
|
0.00005
|
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
|
NM_002529.4(NTRK1):c.575-19G>A
|
rs370828525
|
0.00005
|
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
|
NM_002691.4(POLD1):c.2972G>A (p.Cys991Tyr)
|
rs775264944
|
0.00005
|
|
NM_002769.5(PRSS1):c.366C>T (p.Arg122=)
|
rs201487096
|
0.00005
|
|
NM_002778.4(PSAP):c.797C>T (p.Ala266Val)
|
rs772161921
|
0.00005
|
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
|
NM_002880.4(RAF1):c.1272C>T (p.Cys424=)
|
rs142942142
|
0.00005
|
|
NM_003036.4(SKI):c.1242C>T (p.Ala414=)
|
rs757550300
|
0.00005
|
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
|
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
|
rs11568520
|
0.00005
|
|
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)
|
rs121908886
|
0.00005
|
|
NM_003238.6(TGFB2):c.1008C>T (p.His336=)
|
rs886038528
|
0.00005
|
|
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=)
|
rs371221124
|
0.00005
|
|
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)
|
rs150116445
|
0.00005
|
|
NM_003322.6(TULP1):c.539G>A (p.Arg180His)
|
rs146004382
|
0.00005
|
|
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)
|
rs751050956
|
0.00005
|
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
|
NM_004004.6(GJB2):c.-22-18T>A
|
rs778602324
|
0.00005
|
|
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)
|
rs374572413
|
0.00005
|
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
|
NM_004006.3(DMD):c.1688G>A (p.Arg563His)
|
rs191197223
|
0.00005
|
|
NM_004006.3(DMD):c.4456C>T (p.Pro1486Ser)
|
rs762125605
|
0.00005
|
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
|
NM_004006.3(DMD):c.8390+18G>A
|
rs756363477
|
0.00005
|
|
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly)
|
rs780875333
|
0.00005
|
|
NM_004304.5(ALK):c.3030C>T (p.His1010=)
|
rs367642503
|
0.00005
|
|
NM_004333.6(BRAF):c.1992+8T>C
|
rs753545284
|
0.00005
|
|
NM_004341.5(CAD):c.6367G>A (p.Gly2123Ser)
|
rs367846045
|
0.00005
|
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
|
NM_004385.5(VCAN):c.9049G>C (p.Ala3017Pro)
|
rs774896703
|
0.00005
|
|
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)
|
rs778545351
|
0.00005
|
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
|
NM_004415.4(DSP):c.4401A>G (p.Gln1467=)
|
rs199818953
|
0.00005
|
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
|
NM_004415.4(DSP):c.778-20C>T
|
rs762596346
|
0.00005
|
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
|
NM_004484.4(GPC3):c.168C>G (p.Pro56=)
|
rs188592483
|
0.00005
|
|
NM_004525.3(LRP2):c.11461G>A (p.Ala3821Thr)
|
rs778317120
|
0.00005
|
|
NM_004655.4(AXIN2):c.1450G>A (p.Gly484Ser)
|
rs371446806
|
0.00005
|
|
NM_004750.5(CRLF1):c.242G>A (p.Arg81His)
|
rs104894670
|
0.00005
|
|
NM_005005.3(NDUFB9):c.1A>G (p.Met1Val)
|
rs369824948
|
0.00005
|
|
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val)
|
rs185075003
|
0.00005
|
|
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)
|
rs538054260
|
0.00005
|
|
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)
|
rs369030902
|
0.00005
|
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
|
NM_005343.4(HRAS):c.222C>T (p.Thr74=)
|
rs372223975
|
0.00005
|
|
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=)
|
rs753128184
|
0.00005
|
|
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=)
|
rs113545983
|
0.00005
|
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
|
NM_005502.4(ABCA1):c.3902-19C>T
|
rs868826271
|
0.00005
|
|
NM_005502.4(ABCA1):c.5757+12C>T
|
rs769533549
|
0.00005
|
|
NM_005585.5(SMAD6):c.841C>G (p.Arg281Gly)
|
rs200004068
|
0.00005
|
|
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)
|
rs557328600
|
0.00005
|
|
NM_005732.4(RAD50):c.2750C>T (p.Thr917Ile)
|
rs562172843
|
0.00005
|
|
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln)
|
rs104895051
|
0.00005
|
|
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp)
|
rs587782577
|
0.00005
|
|
NM_005751.5(AKAP9):c.6376A>C (p.Ser2126Arg)
|
rs775673048
|
0.00005
|
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
|
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)
|
rs755177846
|
0.00005
|
|
NM_006030.4(CACNA2D2):c.1620C>T (p.Asn540=)
|
rs200816734
|
0.00005
|
|
NM_006172.4(NPPA):c.272A>G (p.Gln91Arg)
|
rs201879717
|
0.00005
|
|
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys)
|
rs116260568
|
0.00005
|
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
|
NM_006506.5(RASA2):c.2226A>T (p.Ala742=)
|
rs754617499
|
0.00005
|
|
NM_006506.5(RASA2):c.2337T>C (p.Cys779=)
|
rs576697395
|
0.00005
|
|
NM_006734.4(HIVEP2):c.5621-7G>T
|
rs749037306
|
0.00005
|
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
|
NM_006767.4(LZTR1):c.1416G>A (p.Arg472=)
|
rs367740343
|
0.00005
|
|
NM_006767.4(LZTR1):c.1785+19G>A
|
rs777075178
|
0.00005
|
|
NM_006767.4(LZTR1):c.2514C>T (p.Ala838=)
|
rs772037780
|
0.00005
|
|
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr)
|
rs374828650
|
0.00005
|
|
NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp)
|
rs529354763
|
0.00005
|
|
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg)
|
rs34575645
|
0.00005
|
|
NM_006949.4(STXBP2):c.1356+5G>A
|
rs748635794
|
0.00005
|
|
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln)
|
rs762985970
|
0.00005
|
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
|
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)
|
rs201727685
|
0.00005
|
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
|
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile)
|
rs80357364
|
0.00005
|
|
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=)
|
rs730881451
|
0.00005
|
|
NM_007294.4(BRCA1):c.2883C>T (p.Asn961=)
|
rs201190540
|
0.00005
|
|
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met)
|
rs80357345
|
0.00005
|
|
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=)
|
rs587780863
|
0.00005
|
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
|
NM_007294.4(BRCA1):c.670+16G>A
|
rs199916228
|
0.00005
|
|
NM_007315.4(STAT1):c.1582+7G>A
|
rs762378892
|
0.00005
|
|
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)
|
rs145907585
|
0.00005
|
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
|
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile)
|
rs542912704
|
0.00005
|
|
NM_014008.5(CCDC22):c.1600C>T (p.Arg534Trp)
|
rs148054424
|
0.00005
|
|
NM_014009.4(FOXP3):c.816+6C>T
|
rs781919619
|
0.00005
|
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
|
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)
|
rs755920468
|
0.00005
|
|
NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter)
|
rs764560783
|
0.00005
|
|
NM_015466.4(PTPN23):c.2689C>T (p.Pro897Ser)
|
rs375853008
|
0.00005
|
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
|
NM_016343.4(CENPF):c.486C>T (p.Ser162=)
|
rs755220921
|
0.00005
|
|
NM_016938.5(EFEMP2):c.111+17C>G
|
rs768070943
|
0.00005
|
|
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met)
|
rs376478405
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=)
|
rs561956078
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=)
|
rs775882968
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
|
NM_017617.5(NOTCH1):c.743-4G>T
|
rs748001079
|
0.00005
|
|
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=)
|
rs201158068
|
0.00005
|
|
NM_017668.3(NDE1):c.948-9102G>A
|
rs376174444
|
0.00005
|
|
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs)
|
rs750871999
|
0.00005
|
|
NM_018062.4(FANCL):c.374+18_374+29del
|
rs775890254
|
0.00005
|
|
NM_019616.4(F7):c.868G>A (p.Val290Met)
|
rs201991361
|
0.00005
|
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
|
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val)
|
rs772480252
|
0.00005
|
|
NM_020762.4(SRGAP1):c.2734A>G (p.Arg912Gly)
|
rs572030421
|
0.00005
|
|
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn)
|
rs116112514
|
0.00005
|
|
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)
|
rs376835062
|
0.00005
|
|
NM_021913.5(AXL):c.236C>T (p.Ala79Val)
|
rs776776986
|
0.00005
|
|
NM_021927.3(GUF1):c.715A>G (p.Ile239Val)
|
rs7666143
|
0.00005
|
|
NM_022114.4(PRDM16):c.3405C>T (p.Ala1135=)
|
rs765114438
|
0.00005
|
|
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
|
rs753822806
|
0.00005
|
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
|
NM_024334.3(TMEM43):c.442+12G>C
|
rs530183718
|
0.00005
|
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
|
NM_024675.4(PALB2):c.2442G>A (p.Glu814=)
|
rs140776736
|
0.00005
|
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
|
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met)
|
rs533247725
|
0.00005
|
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
|
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=)
|
rs201287884
|
0.00005
|
|
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln)
|
rs376346077
|
0.00005
|
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
|
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val)
|
rs765672841
|
0.00005
|
|
NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn)
|
rs758104018
|
0.00005
|
|
NM_032495.6(HOPX):c.215G>A (p.Arg72His)
|
rs150574089
|
0.00005
|
|
NM_033337.3(CAV3):c.451G>A (p.Val151Ile)
|
rs780870487
|
0.00005
|
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
|
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His)
|
rs104886285
|
0.00005
|
|
NM_053025.4(MYLK):c.2595C>T (p.Asp865=)
|
rs567610011
|
0.00005
|
|
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu)
|
rs746690413
|
0.00005
|
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
|
NM_057176.3(BSND):c.673C>T (p.Gln225Ter)
|
rs776107884
|
0.00005
|
|
NM_080916.3(DGUOK):c.591G>A (p.Gln197=)
|
rs748597500
|
0.00005
|
|
NM_130837.3(OPA1):c.1755-18G>T
|
rs527537208
|
0.00005
|
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
|
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)
|
rs148356158
|
0.00005
|
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
|
NM_139076.3(ABRAXAS1):c.322C>G (p.Gln108Glu)
|
rs573603690
|
0.00005
|
|
NM_139076.3(ABRAXAS1):c.776G>C (p.Gly259Ala)
|
rs201475497
|
0.00005
|
|
NM_139076.3(ABRAXAS1):c.853C>T (p.Arg285Trp)
|
rs150371881
|
0.00005
|
|
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His)
|
rs372629661
|
0.00005
|
|
NM_144670.6(A2ML1):c.201A>G (p.Glu67=)
|
rs371564965
|
0.00005
|
|
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met)
|
rs755702632
|
0.00005
|
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
|
NM_152594.3(SPRED1):c.685-8T>C
|
rs760690837
|
0.00005
|
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
|
NM_173076.3(ABCA12):c.4969G>A (p.Val1657Met)
|
rs201708455
|
0.00005
|
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
|
NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr)
|
rs1026987232
|
0.00005
|
|
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=)
|
rs199815786
|
0.00005
|
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
|
NM_175914.5(HNF4A):c.241G>A (p.Val81Met)
|
rs772786482
|
0.00005
|
|
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)
|
rs746882521
|
0.00005
|
|
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)
|
rs752062224
|
0.00005
|
|
NM_182961.4(SYNE1):c.6231-12T>C
|
rs370687503
|
0.00005
|
|
NM_194248.3(OTOF):c.1871G>A (p.Arg624Gln)
|
rs775956205
|
0.00005
|
|
NM_198129.4(LAMA3):c.8162T>C (p.Ile2721Thr)
|
rs144798744
|
0.00005
|
|
NM_201384.3(PLEC):c.343-19G>C
|
rs199908161
|
0.00005
|
|
NM_203447.4(DOCK8):c.2205+6G>C
|
rs1386347360
|
0.00005
|
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
|
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
|
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=)
|
rs146585542
|
0.00005
|
|
NM_213653.4(HJV):c.59dup (p.Ser21fs)
|
rs782164742
|
0.00005
|
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
|
NM_000036.3(AMPD1):c.1974+1G>A
|
rs145328844
|
0.00004
|
|
NM_000038.6(APC):c.1392T>C (p.His464=)
|
rs1057524073
|
0.00004
|
|
NM_000038.6(APC):c.2297C>T (p.Ala766Val)
|
rs200339830
|
0.00004
|
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00004
|
|
NM_000038.6(APC):c.276C>T (p.Ser92=)
|
rs369238363
|
0.00004
|
|
NM_000038.6(APC):c.2778T>C (p.Ser926=)
|
rs371526966
|
0.00004
|
|
NM_000038.6(APC):c.2838A>G (p.Thr946=)
|
rs142835322
|
0.00004
|
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
|
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro)
|
rs587779789
|
0.00004
|
|
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)
|
rs202168805
|
0.00004
|
|
NM_000038.6(APC):c.3876G>A (p.Thr1292=)
|
rs377494451
|
0.00004
|
|
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)
|
rs730881249
|
0.00004
|
|
NM_000038.6(APC):c.4233T>C (p.Ser1411=)
|
rs761170573
|
0.00004
|
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
|
NM_000038.6(APC):c.4416A>T (p.Val1472=)
|
rs773352404
|
0.00004
|
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
|
NM_000038.6(APC):c.4714A>T (p.Ile1572Phe)
|
rs750107668
|
0.00004
|
|
NM_000038.6(APC):c.4901C>T (p.Pro1634Leu)
|
rs370433763
|
0.00004
|
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
|
NM_000038.6(APC):c.5540C>T (p.Thr1847Met)
|
rs371686531
|
0.00004
|
|
NM_000038.6(APC):c.5571A>C (p.Ser1857=)
|
rs376624613
|
0.00004
|
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
|
NM_000038.6(APC):c.588C>T (p.Ile196=)
|
rs147846364
|
0.00004
|
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
|
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys)
|
rs752604668
|
0.00004
|
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
|
NM_000038.6(APC):c.6219T>G (p.Gly2073=)
|
rs766559927
|
0.00004
|
|
NM_000038.6(APC):c.6387G>A (p.Ser2129=)
|
rs374310157
|
0.00004
|
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
|
NM_000038.6(APC):c.669A>C (p.Gln223His)
|
rs769482880
|
0.00004
|
|
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)
|
rs531178000
|
0.00004
|
|
NM_000038.6(APC):c.7095A>G (p.Ser2365=)
|
rs747844776
|
0.00004
|
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
|
NM_000038.6(APC):c.7540A>G (p.Thr2514Ala)
|
rs545125246
|
0.00004
|
|
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)
|
rs143060722
|
0.00004
|
|
NM_000038.6(APC):c.7594C>T (p.His2532Tyr)
|
rs375080917
|
0.00004
|
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
|
NM_000038.6(APC):c.8042C>T (p.Pro2681Leu)
|
rs182456139
|
0.00004
|
|
NM_000038.6(APC):c.8061A>G (p.Ser2687=)
|
rs746180965
|
0.00004
|
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
|
NM_000038.6(APC):c.8325G>A (p.Gly2775=)
|
rs770719841
|
0.00004
|
|
NM_000038.6(APC):c.883A>G (p.Ser295Gly)
|
rs587780611
|
0.00004
|
|
NM_000040.3(APOC3):c.99G>A (p.Gln33=)
|
rs200557528
|
0.00004
|
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
|
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)
|
rs369879957
|
0.00004
|
|
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)
|
rs766328537
|
0.00004
|
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
|
NM_000051.4(ATM):c.2958T>G (p.Val986=)
|
rs745971584
|
0.00004
|
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
0.00004
|
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
|
NM_000051.4(ATM):c.3994-7C>T
|
rs769346400
|
0.00004
|
|
NM_000051.4(ATM):c.4146A>G (p.Pro1382=)
|
rs147738621
|
0.00004
|
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
0.00004
|
|
NM_000051.4(ATM):c.510G>A (p.Val170=)
|
rs375682557
|
0.00004
|
|
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
|
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro)
|
rs376521407
|
0.00004
|
|
NM_000051.4(ATM):c.6333T>C (p.His2111=)
|
rs55756349
|
0.00004
|
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
|
NM_000051.4(ATM):c.7779G>A (p.Gln2593=)
|
rs770321620
|
0.00004
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00004
|
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
|
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu)
|
rs778267979
|
0.00004
|
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
|
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)
|
rs766906034
|
0.00004
|
|
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)
|
rs760713333
|
0.00004
|
|
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=)
|
rs770787421
|
0.00004
|
|
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
|
rs182659444
|
0.00004
|
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
|
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=)
|
rs193922106
|
0.00004
|
|
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met)
|
rs370713752
|
0.00004
|
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
|
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val)
|
rs769949264
|
0.00004
|
|
NM_000055.4(BCHE):c.1544G>C (p.Ser515Thr)
|
rs371869257
|
0.00004
|
|
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val)
|
rs121918556
|
0.00004
|
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
|
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)
|
rs748054605
|
0.00004
|
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
|
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)
|
rs80358425
|
0.00004
|
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
|
NM_000059.4(BRCA2):c.2526A>C (p.Val842=)
|
rs770778164
|
0.00004
|
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
|
NM_000059.4(BRCA2):c.3167A>G (p.Gln1056Arg)
|
rs431825301
|
0.00004
|
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
|
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly)
|
rs56400215
|
0.00004
|
|
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=)
|
rs786201327
|
0.00004
|
|
NM_000059.4(BRCA2):c.3900_3902del (p.Met1300_Thr1301delinsIle)
|
rs397507697
|
0.00004
|
|
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)
|
rs80358657
|
0.00004
|
|
NM_000059.4(BRCA2):c.4410A>C (p.Ile1470=)
|
rs747516635
|
0.00004
|
|
NM_000059.4(BRCA2):c.4412G>T (p.Arg1471Ile)
|
rs786203839
|
0.00004
|
|
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)
|
rs376338226
|
0.00004
|
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
|
NM_000059.4(BRCA2):c.5793A>G (p.Gln1931=)
|
rs371682489
|
0.00004
|
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
|
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val)
|
rs587782751
|
0.00004
|
|
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)
|
rs148618542
|
0.00004
|
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
rs80358865
|
0.00004
|
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
|
NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly)
|
rs398122551
|
0.00004
|
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
|
NM_000059.4(BRCA2):c.631+18G>A
|
rs759965817
|
0.00004
|
|
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=)
|
rs80359795
|
0.00004
|
|
NM_000059.4(BRCA2):c.67+19T>C
|
rs587780865
|
0.00004
|
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
|
NM_000059.4(BRCA2):c.6841+11A>G
|
rs730881592
|
0.00004
|
|
NM_000059.4(BRCA2):c.6987G>A (p.Pro2329=)
|
rs756619373
|
0.00004
|
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
rs756105620
|
0.00004
|
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
rs28897753
|
0.00004
|
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
|
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)
|
rs45457795
|
0.00004
|
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
|
NM_000059.4(BRCA2):c.9247A>G (p.Lys3083Glu)
|
rs80359190
|
0.00004
|
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
|
NM_000059.4(BRCA2):c.9648+10T>G
|
rs81002835
|
0.00004
|
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
|
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala)
|
rs146845466
|
0.00004
|
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
|
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
|
rs373782713
|
0.00004
|
|
NM_000075.4(CDK4):c.898G>A (p.Gly300Ser)
|
rs879254241
|
0.00004
|
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
|
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=)
|
rs751586391
|
0.00004
|
|
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)
|
rs143367518
|
0.00004
|
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
0.00004
|
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
|
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser)
|
rs193922170
|
0.00004
|
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
|
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)
|
rs749357239
|
0.00004
|
|
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly)
|
rs147706051
|
0.00004
|
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
|
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)
|
rs368434069
|
0.00004
|
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
|
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)
|
rs537768945
|
0.00004
|
|
NM_000096.4(CP):c.623A>G (p.Glu208Gly)
|
rs200933607
|
0.00004
|
|
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile)
|
rs201745292
|
0.00004
|
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
|
NM_000104.4(CYP1B1):c.128G>C (p.Arg43Pro)
|
rs1344079298
|
0.00004
|
|
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)
|
rs28936701
|
0.00004
|
|
NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg)
|
rs753847648
|
0.00004
|
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00004
|
|
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)
|
rs777425216
|
0.00004
|
|
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)
|
rs367619008
|
0.00004
|
|
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)
|
rs759372918
|
0.00004
|
|
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)
|
rs568132506
|
0.00004
|
|
NM_000110.4(DPYD):c.321+15A>C
|
rs370363977
|
0.00004
|
|
NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile)
|
rs199789515
|
0.00004
|
|
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)
|
rs774078839
|
0.00004
|
|
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)
|
rs121434576
|
0.00004
|
|
NM_000124.4(ERCC6):c.3083A>T (p.Asp1028Val)
|
rs1474441899
|
0.00004
|
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
|
NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg)
|
rs121913068
|
0.00004
|
|
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile)
|
rs200396298
|
0.00004
|
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
|
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)
|
rs587779902
|
0.00004
|
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
|
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)
|
rs778966663
|
0.00004
|
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
|
NM_000138.5(FBN1):c.1951G>A (p.Val651Met)
|
rs1335043561
|
0.00004
|
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
|
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=)
|
rs754598297
|
0.00004
|
|
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)
|
rs202190197
|
0.00004
|
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
|
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)
|
rs540808138
|
0.00004
|
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
|
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)
|
rs778447883
|
0.00004
|
|
NM_000153.4(GALC):c.500A>G (p.Asn167Ser)
|
rs768993170
|
0.00004
|
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
|
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)
|
rs111033656
|
0.00004
|
|
NM_000155.4(GALT):c.44C>T (p.Ser15Leu)
|
rs759270191
|
0.00004
|
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
|
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)
|
rs1025558859
|
0.00004
|
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
|
NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln)
|
rs749454966
|
0.00004
|
|
NM_000178.4(GSS):c.472C>T (p.Arg158Trp)
|
rs761900749
|
0.00004
|
|
NM_000178.4(GSS):c.491G>A (p.Arg164Gln)
|
rs121909307
|
0.00004
|
|
NM_000179.3(MSH6):c.1068T>C (p.Gly356=)
|
rs749752524
|
0.00004
|
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
|
NM_000179.3(MSH6):c.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
|
NM_000179.3(MSH6):c.2271C>T (p.Thr757=)
|
rs142172006
|
0.00004
|
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
|
NM_000179.3(MSH6):c.260+10T>G
|
rs193922342
|
0.00004
|
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00004
|
|
NM_000179.3(MSH6):c.3257C>T (p.Pro1086Leu)
|
rs780345806
|
0.00004
|
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00004
|
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
|
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)
|
rs751025746
|
0.00004
|
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
|
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser)
|
rs767103817
|
0.00004
|
|
NM_000190.4(HMBS):c.65G>A (p.Arg22His)
|
rs760087108
|
0.00004
|
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
|
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr)
|
rs367640909
|
0.00004
|
|
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)
|
rs762479018
|
0.00004
|
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=)
|
rs1003639764
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)
|
rs781333509
|
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_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)
|
rs769967565
|
0.00004
|
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
|
NM_000237.3(LPL):c.373G>A (p.Ala125Thr)
|
rs199675233
|
0.00004
|
|
NM_000238.4(KCNH2):c.1945+18C>T
|
rs778276270
|
0.00004
|
|
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)
|
rs141401803
|
0.00004
|
|
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg)
|
rs1268162009
|
0.00004
|
|
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter)
|
rs764263034
|
0.00004
|
|
NM_000239.3(LYZ):c.175C>T (p.Arg59Ter)
|
rs374990260
|
0.00004
|
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
|
NM_000243.3(MEFV):c.1587+7G>A
|
rs375555497
|
0.00004
|
|
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)
|
rs375716505
|
0.00004
|
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
|
NM_000243.3(MEFV):c.611G>A (p.Arg204His)
|
rs775663363
|
0.00004
|
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
|
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
rs104895204
|
0.00004
|
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
|
NM_000249.4(MLH1):c.1284T>C (p.Asp428=)
|
rs772555970
|
0.00004
|
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
|
NM_000249.4(MLH1):c.945C>G (p.His315Gln)
|
rs587779959
|
0.00004
|
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00004
|
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
|
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)
|
rs63750611
|
0.00004
|
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00004
|
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
|
NM_000251.3(MSH2):c.1830C>T (p.His610=)
|
rs766326295
|
0.00004
|
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
|
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)
|
rs752428475
|
0.00004
|
|
NM_000251.3(MSH2):c.287G>A (p.Arg96His)
|
rs63750002
|
0.00004
|
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
|
NM_000251.3(MSH2):c.576C>T (p.Ile192=)
|
rs864622381
|
0.00004
|
|
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)
|
rs587782567
|
0.00004
|
|
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=)
|
rs397515908
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=)
|
rs397515962
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)
|
rs397516033
|
0.00004
|
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
0.00004
|
|
NM_000257.4(MYH7):c.1482T>C (p.Phe494=)
|
rs587781088
|
0.00004
|
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
|
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)
|
rs149576470
|
0.00004
|
|
NM_000257.4(MYH7):c.4893C>T (p.His1631=)
|
rs369164804
|
0.00004
|
|
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)
|
rs776282574
|
0.00004
|
|
NM_000257.4(MYH7):c.5790+14T>A
|
rs370553746
|
0.00004
|
|
NM_000257.4(MYH7):c.633G>A (p.Pro211=)
|
rs587781087
|
0.00004
|
|
NM_000258.3(MYL3):c.246G>A (p.Ala82=)
|
rs368364468
|
0.00004
|
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
|
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys)
|
rs764195249
|
0.00004
|
|
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn)
|
rs559293815
|
0.00004
|
|
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)
|
rs769924767
|
0.00004
|
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
|
NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu)
|
rs767973616
|
0.00004
|
|
NM_000271.5(NPC1):c.2911+4C>T
|
rs186588103
|
0.00004
|
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
|
NM_000275.3(OCA2):c.530_532del (p.Trp177del)
|
rs763726841
|
0.00004
|
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
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_000282.4(PCCA):c.2118+988G>A
|
rs556040424
|
0.00004
|
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
0.00004
|
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
|
NM_000292.3(PHKA2):c.2084C>T (p.Ser695Phe)
|
rs767559014
|
0.00004
|
|
NM_000293.3(PHKB):c.2427+965A>C
|
rs761645932
|
0.00004
|
|
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu)
|
rs373920188
|
0.00004
|
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00004
|
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
|
NM_000308.4(CTSA):c.60del (p.Ser21fs)
|
rs750928198
|
0.00004
|
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
|
NM_000311.5(PRNP):c.623G>A (p.Arg208His)
|
rs74315412
|
0.00004
|
|
NM_000314.6(PTEN):c.-856C>G
|
rs587779996
|
0.00004
|
|
NM_000314.8(PTEN):c.*10T>A
|
rs769236743
|
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_000334.4(SCN4A):c.205G>A (p.Gly69Arg)
|
rs886053249
|
0.00004
|
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
|
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=)
|
rs45570333
|
0.00004
|
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
|
NM_000335.5(SCN5A):c.2002G>A (p.Val668Ile)
|
rs768055977
|
0.00004
|
|
NM_000335.5(SCN5A):c.2496C>T (p.Ile832=)
|
rs761287478
|
0.00004
|
|
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu)
|
rs755194086
|
0.00004
|
|
NM_000335.5(SCN5A):c.3057G>A (p.Val1019=)
|
rs372395429
|
0.00004
|
|
NM_000335.5(SCN5A):c.3948T>C (p.Phe1316=)
|
rs571705278
|
0.00004
|
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
|
NM_000335.5(SCN5A):c.4807G>A (p.Val1603Met)
|
rs199473280
|
0.00004
|
|
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)
|
rs199473069
|
0.00004
|
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
|
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn)
|
rs13306629
|
0.00004
|
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
|
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln)
|
rs747229048
|
0.00004
|
|
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
|
NM_000352.6(ABCC8):c.1818C>T (p.Ser606=)
|
rs202207978
|
0.00004
|
|
NM_000352.6(ABCC8):c.2117-12C>A
|
rs193922398
|
0.00004
|
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
|
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)
|
rs139964066
|
0.00004
|
|
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)
|
rs372153432
|
0.00004
|
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
|
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)
|
rs771106160
|
0.00004
|
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
|
NM_000359.3(TGM1):c.377G>A (p.Arg126His)
|
rs200491579
|
0.00004
|
|
NM_000359.3(TGM1):c.425G>A (p.Arg142His)
|
rs121918718
|
0.00004
|
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
|
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)
|
rs1461609607
|
0.00004
|
|
NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln)
|
rs368452281
|
0.00004
|
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
|
NM_000370.3(TTPA):c.95G>A (p.Arg32Gln)
|
rs780199989
|
0.00004
|
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
|
NM_000380.4(XPA):c.555+8A>G
|
rs756967163
|
0.00004
|
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
|
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln)
|
rs757953998
|
0.00004
|
|
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
|
rs201460445
|
0.00004
|
|
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)
|
rs753641926
|
0.00004
|
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
|
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)
|
rs201382232
|
0.00004
|
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
|
NM_000410.4(HFE):c.175G>A (p.Val59Met)
|
rs111033557
|
0.00004
|
|
NM_000416.3(IFNGR1):c.1292C>T (p.Pro431Leu)
|
rs780820310
|
0.00004
|
|
NM_000416.3(IFNGR1):c.135C>T (p.Ile45=)
|
rs148104171
|
0.00004
|
|
NM_000416.3(IFNGR1):c.547A>G (p.Ile183Val)
|
rs752756474
|
0.00004
|
|
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)
|
rs149078011
|
0.00004
|
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
|
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
|
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
|
rs193922464
|
0.00004
|
|
NM_000455.5(STK11):c.1044C>T (p.Asp348=)
|
rs778274196
|
0.00004
|
|
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)
|
rs553752236
|
0.00004
|
|
NM_000455.5(STK11):c.1109-5C>T
|
rs587782020
|
0.00004
|
|
NM_000455.5(STK11):c.1200G>A (p.Leu400=)
|
rs368661707
|
0.00004
|
|
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)
|
rs757841535
|
0.00004
|
|
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)
|
rs587782115
|
0.00004
|
|
NM_000455.5(STK11):c.432G>A (p.Pro144=)
|
rs376788924
|
0.00004
|
|
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)
|
rs185087320
|
0.00004
|
|
NM_000455.5(STK11):c.651G>A (p.Pro217=)
|
rs368348370
|
0.00004
|
|
NM_000455.5(STK11):c.723T>C (p.Ala241=)
|
rs533550278
|
0.00004
|
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
|
NM_000455.5(STK11):c.827G>T (p.Gly276Val)
|
rs749927908
|
0.00004
|
|
NM_000465.4(BARD1):c.1294C>T (p.Leu432Phe)
|
rs185164724
|
0.00004
|
|
NM_000465.4(BARD1):c.1788A>G (p.Lys596=)
|
rs777084777
|
0.00004
|
|
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)
|
rs587781443
|
0.00004
|
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
|
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)
|
rs587780030
|
0.00004
|
|
NM_000465.4(BARD1):c.253G>T (p.Val85Leu)
|
rs370359540
|
0.00004
|
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
|
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser)
|
rs774929973
|
0.00004
|
|
NM_000465.4(BARD1):c.76A>G (p.Met26Val)
|
rs587781570
|
0.00004
|
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
|
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)
|
rs587782465
|
0.00004
|
|
NM_000478.6(ALPL):c.1541C>T (p.Ala514Val)
|
rs371373128
|
0.00004
|
|
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)
|
rs199669988
|
0.00004
|
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
|
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)
|
rs199476360
|
0.00004
|
|
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)
|
rs200899224
|
0.00004
|
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
|
NM_000492.4(CFTR):c.1680-6T>G
|
rs949851823
|
0.00004
|
|
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe)
|
rs772223589
|
0.00004
|
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
0.00004
|
|
NM_000492.4(CFTR):c.2805A>G (p.Leu935=)
|
rs368967922
|
0.00004
|
|
NM_000492.4(CFTR):c.2832G>A (p.Val944=)
|
rs193922512
|
0.00004
|
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
|
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)
|
rs769448889
|
0.00004
|
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
|
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=)
|
rs142526976
|
0.00004
|
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
|
NM_000492.4(CFTR):c.355A>G (p.Ile119Val)
|
rs193922518
|
0.00004
|
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
|
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe)
|
rs770345073
|
0.00004
|
|
NM_000492.4(CFTR):c.454A>T (p.Met152Leu)
|
rs397508721
|
0.00004
|
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
|
NM_000497.4(CYP11B1):c.1122-12C>T
|
rs193922537
|
0.00004
|
|
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)
|
rs373736765
|
0.00004
|
|
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys)
|
rs1463986346
|
0.00004
|
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
|
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)
|
rs146093755
|
0.00004
|
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
|
NM_000518.5(HBB):c.180G>A (p.Lys60=)
|
rs34621955
|
0.00004
|
|
NM_000518.5(HBB):c.316-81T>A
|
rs911937119
|
0.00004
|
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
|
NM_000520.5(HEXA):c.-2343_-2342delAA
|
rs561605340
|
0.00004
|
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
|
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)
|
rs121907962
|
0.00004
|
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
|
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=)
|
rs193922564
|
0.00004
|
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
|
NM_000527.5(LDLR):c.1380C>T (p.His460=)
|
rs768883894
|
0.00004
|
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
|
NM_000527.5(LDLR):c.1987+10G>T
|
rs375846192
|
0.00004
|
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
|
NM_000527.5(LDLR):c.817+14A>G
|
rs201875602
|
0.00004
|
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00004
|
|
NM_000535.7(PMS2):c.1197G>A (p.Lys399=)
|
rs757730609
|
0.00004
|
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
|
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln)
|
rs372539944
|
0.00004
|
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
|
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)
|
rs371011390
|
0.00004
|
|
NM_000535.7(PMS2):c.1806C>G (p.Ala602=)
|
rs376046767
|
0.00004
|
|
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
|
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys)
|
rs587780051
|
0.00004
|
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
|
NM_000535.7(PMS2):c.2358G>C (p.Leu786=)
|
rs535056715
|
0.00004
|
|
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)
|
rs63751284
|
0.00004
|
|
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala)
|
rs376931673
|
0.00004
|
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
|
NM_000535.7(PMS2):c.831G>A (p.Thr277=)
|
rs116481522
|
0.00004
|
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
|
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
0.00004
|
|
NM_000545.8(HNF1A):c.1624-15G>A
|
rs193922585
|
0.00004
|
|
NM_000546.6(TP53):c.102C>G (p.Pro34=)
|
rs11575998
|
0.00004
|
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
|
NM_000546.6(TP53):c.246G>A (p.Pro82=)
|
rs372397095
|
0.00004
|
|
NM_000546.6(TP53):c.255T>C (p.Pro85=)
|
rs775515332
|
0.00004
|
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
|
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
|
rs121912654
|
0.00004
|
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
|
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=)
|
rs769246304
|
0.00004
|
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
0.00004
|
|
NM_000548.5(TSC2):c.921C>G (p.His307Gln)
|
rs878854121
|
0.00004
|
|
NM_000550.3(TYRP1):c.1538C>G (p.Pro513Arg)
|
rs532941663
|
0.00004
|
|
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)
|
rs367545984
|
0.00004
|
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
|
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)
|
rs61750070
|
0.00004
|
|
NM_000552.5(VWF):c.5073C>T (p.Asp1691=)
|
rs549367616
|
0.00004
|
|
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp)
|
rs369669154
|
0.00004
|
|
NM_000552.5(VWF):c.8164C>G (p.Pro2722Ala)
|
rs62641244
|
0.00004
|
|
NM_000552.5(VWF):c.817C>T (p.Arg273Trp)
|
rs61753997
|
0.00004
|
|
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)
|
rs63750751
|
0.00004
|
|
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)
|
rs387906808
|
0.00004
|
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
|
NM_000719.7(CACNA1C):c.1114-10G>A
|
rs371725005
|
0.00004
|
|
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)
|
rs202058956
|
0.00004
|
|
NM_000719.7(CACNA1C):c.3717+11G>A
|
rs763622598
|
0.00004
|
|
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=)
|
rs587780882
|
0.00004
|
|
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)
|
rs181502604
|
0.00004
|
|
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)
|
rs137965290
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
|
NM_000785.4(CYP27B1):c.262del (p.Val88fs)
|
rs387906260
|
0.00004
|
|
NM_000875.5(IGF1R):c.721G>A (p.Ala241Thr)
|
rs775630539
|
0.00004
|
|
NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys)
|
rs28363549
|
0.00004
|
|
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)
|
rs377381866
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
|
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
|
rs543320028
|
0.00004
|
|
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)
|
rs138096771
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)
|
rs766567785
|
0.00004
|
|
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)
|
rs767659342
|
0.00004
|
|
NM_001032283.3(TMPO):c.565+1304T>A
|
rs142500409
|
0.00004
|
|
NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)
|
rs757559168
|
0.00004
|
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
|
NM_001035.3(RYR2):c.13293A>G (p.Glu4431=)
|
rs778248995
|
0.00004
|
|
NM_001035.3(RYR2):c.13913+17A>G
|
rs371894104
|
0.00004
|
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
|
NM_001035.3(RYR2):c.2718+19T>C
|
rs773320230
|
0.00004
|
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
|
NM_001035.3(RYR2):c.601T>C (p.Leu201=)
|
rs752523583
|
0.00004
|
|
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=)
|
rs546545700
|
0.00004
|
|
NM_001035.3(RYR2):c.8591-8A>G
|
rs1369273531
|
0.00004
|
|
NM_001036.6(RYR3):c.12978+3A>G
|
rs775487863
|
0.00004
|
|
NM_001036.6(RYR3):c.9142C>T (p.Arg3048Cys)
|
rs763223227
|
0.00004
|
|
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val)
|
rs72552028
|
0.00004
|
|
NM_001039770.3(TMPPE):c.-398A>G
|
rs369627064
|
0.00004
|
|
NM_001040142.2(SCN2A):c.4551+10A>G
|
rs767957352
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5097C>G (p.Thr1699=)
|
rs950010627
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5672T>A (p.Val1891Asp)
|
rs758908934
|
0.00004
|
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
|
NM_001042492.3(NF1):c.3690G>T (p.Val1230=)
|
rs183296277
|
0.00004
|
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
|
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)
|
rs779114598
|
0.00004
|
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
|
NM_001044385.3(TMEM237):c.574C>T (p.Arg192Cys)
|
rs202092408
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)
|
rs200229669
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
|
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)
|
rs138775799
|
0.00004
|
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
|
NM_001048174.2(MUTYH):c.305-6C>T
|
rs376600220
|
0.00004
|
|
NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)
|
rs368963039
|
0.00004
|
|
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)
|
rs587780748
|
0.00004
|
|
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)
|
rs759295912
|
0.00004
|
|
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)
|
rs146044717
|
0.00004
|
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
|
NM_001048174.2(MUTYH):c.888G>C (p.Ser296=)
|
rs771683103
|
0.00004
|
|
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)
|
rs587780082
|
0.00004
|
|
NM_001077365.2(POMT1):c.699+85C>G
|
rs369000699
|
0.00004
|
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
|
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=)
|
rs193922633
|
0.00004
|
|
NM_001079802.2(FKTN):c.444C>T (p.Asp148=)
|
rs759808323
|
0.00004
|
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
|
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
|
rs139322149
|
0.00004
|
|
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)
|
rs1564723449
|
0.00004
|
|
NM_001083116.3(PRF1):c.614A>G (p.Asn205Ser)
|
rs770354747
|
0.00004
|
|
NM_001083116.3(PRF1):c.719G>A (p.Arg240His)
|
rs751390468
|
0.00004
|
|
NM_001085049.3(MRAS):c.*11G>T
|
rs569173400
|
0.00004
|
|
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His)
|
rs368040932
|
0.00004
|
|
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=)
|
rs141884271
|
0.00004
|
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
|
NM_001103.4(ACTN2):c.777G>A (p.Ala259=)
|
rs764583678
|
0.00004
|
|
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)
|
rs782779958
|
0.00004
|
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
|
NM_001126049.2(KLLN):c.-1039G>A
|
rs587779999
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
|
NM_001128159.3(VPS53):c.418C>T (p.Arg140Cys)
|
rs762571777
|
0.00004
|
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
|
NM_001128918.3(MARK3):c.1917-11A>G
|
rs557344866
|
0.00004
|
|
NM_001130823.3(DNMT1):c.2471C>T (p.Thr824Met)
|
rs140993011
|
0.00004
|
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
|
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln)
|
rs561085365
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu)
|
rs367543120
|
0.00004
|
|
NM_001134771.2(SLC12A5):c.74G>A (p.Arg25Gln)
|
rs555710024
|
0.00004
|
|
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs)
|
rs763328506
|
0.00004
|
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
|
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg)
|
rs780935714
|
0.00004
|
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
|
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)
|
rs1161453292
|
0.00004
|
|
NM_001142800.2(EYS):c.9235C>G (p.Leu3079Val)
|
rs760931603
|
0.00004
|
|
NM_001148.6(ANK2):c.11864A>G (p.Asn3955Ser)
|
rs201555985
|
0.00004
|
|
NM_001148.6(ANK2):c.2622A>G (p.Ser874=)
|
rs764486532
|
0.00004
|
|
NM_001148.6(ANK2):c.2901-16C>G
|
rs200750637
|
0.00004
|
|
NM_001148.6(ANK2):c.2964G>T (p.Gly988=)
|
rs779092487
|
0.00004
|
|
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)
|
rs140189724
|
0.00004
|
|
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)
|
rs1298469624
|
0.00004
|
|
NM_001159699.2(FHL1):c.380-16T>C
|
rs772665517
|
0.00004
|
|
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)
|
rs377546036
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
|
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)
|
rs758166991
|
0.00004
|
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
|
NM_001164508.2(NEB):c.255C>T (p.Tyr85=)
|
rs375749306
|
0.00004
|
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=)
|
rs376118833
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)
|
rs780360360
|
0.00004
|
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.1415+13C>T
|
rs776975478
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg)
|
rs556400964
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)
|
rs370624118
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
|
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
|
rs369647740
|
0.00004
|
|
NM_001243133.2(NLRP3):c.2151-9A>C
|
rs762817427
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)
|
rs768886326
|
0.00004
|
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
|
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln)
|
rs763708375
|
0.00004
|
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
|
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)
|
rs751914956
|
0.00004
|
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
|
NM_001267550.2(TTN):c.197C>T (p.Thr66Met)
|
rs372755739
|
0.00004
|
|
NM_001267550.2(TTN):c.22303C>T (p.Pro7435Ser)
|
rs375037712
|
0.00004
|
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
|
NM_001267550.2(TTN):c.23901T>G (p.Val7967=)
|
rs550995785
|
0.00004
|
|
NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn)
|
rs755202091
|
0.00004
|
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
|
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)
|
rs397517507
|
0.00004
|
|
NM_001267550.2(TTN):c.24571G>A (p.Glu8191Lys)
|
rs201326258
|
0.00004
|
|
NM_001267550.2(TTN):c.26564G>T (p.Gly8855Val)
|
rs767057972
|
0.00004
|
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
|
NM_001267550.2(TTN):c.2840C>T (p.Ser947Leu)
|
rs761200839
|
0.00004
|
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
|
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala)
|
rs778063825
|
0.00004
|
|
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)
|
rs369094355
|
0.00004
|
|
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr)
|
rs886055288
|
0.00004
|
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
|
NM_001267550.2(TTN):c.31701C>T (p.Pro10567=)
|
rs779404719
|
0.00004
|
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00004
|
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
|
NM_001267550.2(TTN):c.39535C>T (p.Pro13179Ser)
|
rs752224211
|
0.00004
|
|
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg)
|
rs760464072
|
0.00004
|
|
NM_001267550.2(TTN):c.40409-1G>A
|
rs1285884266
|
0.00004
|
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
|
NM_001267550.2(TTN):c.43748-9T>G
|
rs1048557788
|
0.00004
|
|
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)
|
rs370904881
|
0.00004
|
|
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser)
|
rs372404266
|
0.00004
|
|
NM_001267550.2(TTN):c.49049-16G>A
|
rs369011743
|
0.00004
|
|
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)
|
rs397517604
|
0.00004
|
|
NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met)
|
rs554368924
|
0.00004
|
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
|
NM_001267550.2(TTN):c.5982G>A (p.Ser1994=)
|
rs573823772
|
0.00004
|
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
|
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr)
|
rs755700079
|
0.00004
|
|
NM_001267550.2(TTN):c.6367C>T (p.Arg2123Trp)
|
rs777316854
|
0.00004
|
|
NM_001267550.2(TTN):c.71341G>A (p.Val23781Ile)
|
rs146483596
|
0.00004
|
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00004
|
|
NM_001267550.2(TTN):c.78383G>A (p.Arg26128His)
|
rs757957389
|
0.00004
|
|
NM_001267550.2(TTN):c.78992G>A (p.Arg26331Gln)
|
rs758190406
|
0.00004
|
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
|
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)
|
rs545954394
|
0.00004
|
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00004
|
|
NM_001267550.2(TTN):c.91332C>T (p.Asn30444=)
|
rs397517752
|
0.00004
|
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
|
NM_001267550.2(TTN):c.94604G>T (p.Gly31535Val)
|
rs200302364
|
0.00004
|
|
NM_001267550.2(TTN):c.95395A>G (p.Ile31799Val)
|
rs370916420
|
0.00004
|
|
NM_001267550.2(TTN):c.97795+12T>C
|
rs759477837
|
0.00004
|
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
|
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)
|
rs45465693
|
0.00004
|
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
|
NM_001291303.3(FAT4):c.14311C>T (p.Arg4771Cys)
|
rs144845192
|
0.00004
|
|
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)
|
rs552069173
|
0.00004
|
|
NM_001318510.2(ACSL4):c.1490C>T (p.Ala497Val)
|
rs956339615
|
0.00004
|
|
NM_001318510.2(ACSL4):c.517-6C>T
|
rs1218350261
|
0.00004
|
|
NM_001330.5(CTF1):c.454G>C (p.Ala152Pro)
|
rs1467275471
|
0.00004
|
|
NM_001330260.2(SCN8A):c.1335G>A (p.Glu445=)
|
rs576113589
|
0.00004
|
|
NM_001349253.2(SCN11A):c.1054A>G (p.Met352Val)
|
rs757066072
|
0.00004
|
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
|
NM_001352754.2(ARMC9):c.1340C>T (p.Pro447Leu)
|
rs778877264
|
0.00004
|
|
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
|
rs104893747
|
0.00004
|
|
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
|
rs547012639
|
0.00004
|
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
|
NM_001365308.1(BMPER):c.932G>C (p.Gly311Ala)
|
rs779852774
|
0.00004
|
|
NM_001365951.3(KIF1B):c.3259+3A>C
|
rs1388178227
|
0.00004
|
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
|
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn)
|
rs281865146
|
0.00004
|
|
NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu)
|
rs273585617
|
0.00004
|
|
NM_001367624.2(ZNF469):c.4276G>A (p.Glu1426Lys)
|
rs868174994
|
0.00004
|
|
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)
|
rs760433806
|
0.00004
|
|
NM_001370259.2(MEN1):c.784-10C>T
|
rs71526470
|
0.00004
|
|
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)
|
rs773758818
|
0.00004
|
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)
|
rs148715351
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His)
|
rs759549373
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln)
|
rs761391585
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)
|
rs199683521
|
0.00004
|
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1238-9A>G
|
rs372652836
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)
|
rs201990757
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)
|
rs200454461
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=)
|
rs368992526
|
0.00004
|
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
|
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=)
|
rs1420283861
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
|
NM_001378454.1(ALMS1):c.9782-19C>A
|
rs777706370
|
0.00004
|
|
NM_001378457.1(DMXL2):c.1682A>G (p.Asn561Ser)
|
rs750656460
|
0.00004
|
|
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)
|
rs760077990
|
0.00004
|
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00004
|
|
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu)
|
rs138299477
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=)
|
rs181548456
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys)
|
rs1012462823
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser)
|
rs377107065
|
0.00004
|
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
|
NM_001386140.1(MTTP):c.1867+1G>A
|
rs764189338
|
0.00004
|
|
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
|
rs146064714
|
0.00004
|
|
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)
|
rs761156912
|
0.00004
|
|
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)
|
rs752078407
|
0.00004
|
|
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met)
|
rs757959636
|
0.00004
|
|
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=)
|
rs542483546
|
0.00004
|
|
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr)
|
rs199983981
|
0.00004
|
|
NM_001395891.1(CLASP1):c.196-678C>T
|
rs544312701
|
0.00004
|
|
NM_001458.5(FLNC):c.1242C>T (p.Ile414=)
|
rs761922411
|
0.00004
|
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
|
NM_001492.6(GDF1):c.796G>A (p.Ala266Thr)
|
rs755707666
|
0.00004
|
|
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)
|
rs201877440
|
0.00004
|
|
NM_001613.4(ACTA2):c.216G>A (p.Pro72=)
|
rs181255627
|
0.00004
|
|
NM_001677.4(ATP1B1):c.790A>G (p.Thr264Ala)
|
rs760933888
|
0.00004
|
|
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr)
|
rs753867828
|
0.00004
|
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00004
|
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
|
NM_001908.5(CTSB):c.991C>T (p.Arg331Cys)
|
rs148519031
|
0.00004
|
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
0.00004
|
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
|
NM_001931.5(DLAT):c.1541C>T (p.Ala514Val)
|
rs368631614
|
0.00004
|
|
NM_001931.5(DLAT):c.208C>T (p.Arg70Trp)
|
rs782051284
|
0.00004
|
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
|
NM_001943.5(DSG2):c.1878A>G (p.Leu626=)
|
rs771576658
|
0.00004
|
|
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
|
rs200804638
|
0.00004
|
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
|
NM_001963.6(EGF):c.1180C>T (p.Arg394Ter)
|
rs369702571
|
0.00004
|
|
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter)
|
rs759896124
|
0.00004
|
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
|
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)
|
rs756664556
|
0.00004
|
|
NM_002160.4(TNC):c.3967A>G (p.Thr1323Ala)
|
rs200961533
|
0.00004
|
|
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)
|
rs193922641
|
0.00004
|
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
0.00004
|
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
|
NM_002230.4(JUP):c.1219G>A (p.Val407Ile)
|
rs370913228
|
0.00004
|
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
|
NM_002230.4(JUP):c.624C>G (p.Ile208Met)
|
rs566435665
|
0.00004
|
|
NM_002230.4(JUP):c.945C>T (p.Leu315=)
|
rs146804895
|
0.00004
|
|
NM_002294.3(LAMP2):c.-7C>T
|
rs762305947
|
0.00004
|
|
NM_002294.3(LAMP2):c.1093+9C>T
|
rs371259269
|
0.00004
|
|
NM_002294.3(LAMP2):c.928+6C>T
|
rs769837038
|
0.00004
|
|
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met)
|
rs199686378
|
0.00004
|
|
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys)
|
rs756244326
|
0.00004
|
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
|
NM_002471.4(MYH6):c.4791C>T (p.Asp1597=)
|
rs761627508
|
0.00004
|
|
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)
|
rs747673552
|
0.00004
|
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
|
NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr)
|
rs745516001
|
0.00004
|
|
NM_002474.3(MYH11):c.1864+19G>A
|
rs200979632
|
0.00004
|
|
NM_002474.3(MYH11):c.2579A>T (p.Glu860Val)
|
rs373789068
|
0.00004
|
|
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser)
|
rs906679954
|
0.00004
|
|
NM_002474.3(MYH11):c.301G>A (p.Val101Met)
|
rs375159635
|
0.00004
|
|
NM_002474.3(MYH11):c.3396C>T (p.Ala1132=)
|
rs753096245
|
0.00004
|
|
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser)
|
rs763280025
|
0.00004
|
|
NM_002474.3(MYH11):c.5607G>A (p.Lys1869=)
|
rs372546520
|
0.00004
|
|
NM_002474.3(MYH11):c.831C>T (p.Asp277=)
|
rs113537940
|
0.00004
|
|
NM_002485.5(NBN):c.-10A>T
|
rs759094270
|
0.00004
|
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
|
NM_002485.5(NBN):c.506G>A (p.Arg169His)
|
rs776134250
|
0.00004
|
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
|
NM_002485.5(NBN):c.720C>T (p.Ser240=)
|
rs781323381
|
0.00004
|
|
NM_002485.5(NBN):c.73G>A (p.Val25Ile)
|
rs587781748
|
0.00004
|
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
|
NM_002691.4(POLD1):c.1863C>T (p.Leu621=)
|
rs963813695
|
0.00004
|
|
NM_002691.4(POLD1):c.2250+4G>A
|
rs370478977
|
0.00004
|
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
|
NM_002691.4(POLD1):c.2772C>T (p.Tyr924=)
|
rs867074778
|
0.00004
|
|
NM_002691.4(POLD1):c.3204C>T (p.Asp1068=)
|
rs759019419
|
0.00004
|
|
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)
|
rs776848222
|
0.00004
|
|
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro)
|
rs569063066
|
0.00004
|
|
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)
|
rs148786642
|
0.00004
|
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
|
NM_002693.3(POLG):c.487C>T (p.Pro163Ser)
|
rs758454871
|
0.00004
|
|
NM_002693.3(POLG):c.863G>A (p.Arg288His)
|
rs796052902
|
0.00004
|
|
NM_002734.5(PRKAR1A):c.178-8T>G
|
rs771192586
|
0.00004
|
|
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=)
|
rs117639566
|
0.00004
|
|
NM_002734.5(PRKAR1A):c.984A>G (p.Ala328=)
|
rs1161181036
|
0.00004
|
|
NM_002755.4(MAP2K1):c.1123C>A (p.Leu375Ile)
|
rs752538915
|
0.00004
|
|
NM_002769.5(PRSS1):c.247G>C (p.Gly83Arg)
|
rs372411481
|
0.00004
|
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
|
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)
|
rs760187622
|
0.00004
|
|
NM_002878.4(RAD51D):c.101C>T (p.Ala34Val)
|
rs876658968
|
0.00004
|
|
NM_002878.4(RAD51D):c.185C>T (p.Ser62Leu)
|
rs374357106
|
0.00004
|
|
NM_002878.4(RAD51D):c.264-7C>T
|
rs753529790
|
0.00004
|
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
|
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)
|
rs730881007
|
0.00004
|
|
NM_002880.4(RAF1):c.570C>T (p.Ile190=)
|
rs780912024
|
0.00004
|
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
|
NM_003060.4(SLC22A5):c.246C>T (p.Arg82=)
|
rs377767448
|
0.00004
|
|
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=)
|
rs774320273
|
0.00004
|
|
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp)
|
rs748024868
|
0.00004
|
|
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
|
rs562890289
|
0.00004
|
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
|
NM_003172.4(SURF1):c.240+1G>T
|
rs781948238
|
0.00004
|
|
NM_003172.4(SURF1):c.324-11T>C
|
rs375398247
|
0.00004
|
|
NM_003172.4(SURF1):c.36G>A (p.Arg12=)
|
rs888052160
|
0.00004
|
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00004
|
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
|
NM_003238.6(TGFB2):c.603C>T (p.Phe201=)
|
rs377264861
|
0.00004
|
|
NM_003238.6(TGFB2):c.984G>A (p.Arg328=)
|
rs147678881
|
0.00004
|
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
|
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=)
|
rs532098604
|
0.00004
|
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
|
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly)
|
rs772138289
|
0.00004
|
|
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)
|
rs193922667
|
0.00004
|
|
NM_003477.3(PDHX):c.248C>T (p.Ala83Val)
|
rs745866603
|
0.00004
|
|
NM_003560.4(PLA2G6):c.1375C>T (p.Arg459Trp)
|
rs753484966
|
0.00004
|
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
|
NM_003647.3(DGKE):c.117G>C (p.Trp39Cys)
|
rs201377251
|
0.00004
|
|
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp)
|
rs553076953
|
0.00004
|
|
NM_004004.6(GJB2):c.-30C>T
|
rs397516867
|
0.00004
|
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
0.00004
|
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
0.00004
|
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
0.00004
|
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
|
NM_004004.6(GJB2):c.78C>T (p.Thr26=)
|
rs201848820
|
0.00004
|
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
0.00004
|
|
NM_004006.3(DMD):c.2076A>G (p.Glu692=)
|
rs764950114
|
0.00004
|
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
|
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser)
|
rs910214749
|
0.00004
|
|
NM_004006.3(DMD):c.4845+10A>G
|
rs199958675
|
0.00004
|
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
|
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)
|
rs201532491
|
0.00004
|
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
|
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val)
|
rs763480310
|
0.00004
|
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
|
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)
|
rs776409783
|
0.00004
|
|
NM_004100.5(EYA4):c.741A>G (p.Pro247=)
|
rs752226573
|
0.00004
|
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
|
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp)
|
rs369523358
|
0.00004
|
|
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu)
|
rs1374652846
|
0.00004
|
|
NM_004281.4(BAG3):c.1659A>T (p.Glu553Asp)
|
rs763530097
|
0.00004
|
|
NM_004281.4(BAG3):c.181-15C>T
|
rs397516882
|
0.00004
|
|
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe)
|
rs780615753
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=)
|
rs149787558
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)
|
rs376651641
|
0.00004
|
|
NM_004329.3(BMPR1A):c.583C>A (p.Gln195Lys)
|
rs771910503
|
0.00004
|
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
|
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly)
|
rs545495379
|
0.00004
|
|
NM_004333.6(BRAF):c.1667T>C (p.Ile556Thr)
|
rs760524720
|
0.00004
|
|
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile)
|
rs1008080053
|
0.00004
|
|
NM_004341.5(CAD):c.5347G>A (p.Val1783Ile)
|
rs775234790
|
0.00004
|
|
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile)
|
rs141864044
|
0.00004
|
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00004
|
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
0.00004
|
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
|
NM_004360.5(CDH1):c.1936+8C>T
|
rs776624068
|
0.00004
|
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_004360.5(CDH1):c.375C>A (p.Pro125=)
|
rs773044699
|
0.00004
|
|
NM_004360.5(CDH1):c.780C>T (p.Pro260=)
|
rs765090311
|
0.00004
|
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
|
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)
|
rs370256196
|
0.00004
|
|
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys)
|
rs752441031
|
0.00004
|
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
|
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
|
rs558005496
|
0.00004
|
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
|
NM_004493.3(HSD17B10):c.486+3G>A
|
rs949464841
|
0.00004
|
|
NM_004523.4(KIF11):c.2836C>T (p.His946Tyr)
|
rs201290831
|
0.00004
|
|
NM_004588.5(SCN2B):c.356C>T (p.Pro119Leu)
|
rs767589740
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=)
|
rs144985585
|
0.00004
|
|
NM_004614.5(TK2):c.278A>G (p.Asn93Ser)
|
rs142291440
|
0.00004
|
|
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)
|
rs757958943
|
0.00004
|
|
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)
|
rs374117852
|
0.00004
|
|
NM_004628.5(XPC):c.2453A>G (p.Lys818Arg)
|
rs367953088
|
0.00004
|
|
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)
|
rs752712664
|
0.00004
|
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00004
|
|
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)
|
rs756436580
|
0.00004
|
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
|
NM_004937.3(CTNS):c.970+5G>A
|
rs753451110
|
0.00004
|
|
NM_004958.4(MTOR):c.1870C>T (p.Arg624Cys)
|
rs780398729
|
0.00004
|
|
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg)
|
rs753769576
|
0.00004
|
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
|
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
|
rs181943870
|
0.00004
|
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
|
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp)
|
rs202065722
|
0.00004
|
|
NM_005188.4(CBL):c.1942-17T>C
|
rs907111206
|
0.00004
|
|
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)
|
rs374672276
|
0.00004
|
|
NM_005247.4(FGF3):c.280G>A (p.Gly94Arg)
|
rs782507721
|
0.00004
|
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
|
NM_005343.4(HRAS):c.36C>T (p.Gly12=)
|
rs727504424
|
0.00004
|
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
|
NM_005343.4(HRAS):c.534C>G (p.Gly178=)
|
rs770431635
|
0.00004
|
|
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=)
|
rs145097078
|
0.00004
|
|
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=)
|
rs121912577
|
0.00004
|
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
|
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)
|
rs148434485
|
0.00004
|
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
|
NM_005413.4(SIX3):c.164G>A (p.Gly55Glu)
|
rs772677168
|
0.00004
|
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
|
NM_005559.4(LAMA1):c.7875C>T (p.Val2625=)
|
rs114578861
|
0.00004
|
|
NM_005562.3(LAMC2):c.2421C>T (p.Ser807=)
|
rs545568798
|
0.00004
|
|
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala)
|
rs1049275389
|
0.00004
|
|
NM_005591.4(MRE11):c.1052G>A (p.Arg351His)
|
rs587780133
|
0.00004
|
|
NM_005591.4(MRE11):c.1098+8C>A
|
rs749039246
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1885G>A (p.Val629Ile)
|
rs781899045
|
0.00004
|
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
|
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys)
|
rs141501083
|
0.00004
|
|
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)
|
rs768113420
|
0.00004
|
|
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)
|
rs374341202
|
0.00004
|
|
NM_005732.4(RAD50):c.281T>C (p.Ile94Thr)
|
rs768127412
|
0.00004
|
|
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)
|
rs748377319
|
0.00004
|
|
NM_005732.4(RAD50):c.625G>C (p.Glu209Gln)
|
rs587780158
|
0.00004
|
|
NM_005732.4(RAD50):c.695C>A (p.Ala232Asp)
|
rs28903089
|
0.00004
|
|
NM_005751.5(AKAP9):c.9032A>G (p.Asp3011Gly)
|
rs745743634
|
0.00004
|
|
NM_005901.6(SMAD2):c.242G>T (p.Cys81Phe)
|
rs908853616
|
0.00004
|
|
NM_005902.4(SMAD3):c.608-15T>C
|
rs371614939
|
0.00004
|
|
NM_005902.4(SMAD3):c.872-12G>C
|
rs768529580
|
0.00004
|
|
NM_005912.3(MC4R):c.896C>A (p.Pro299His)
|
rs52804924
|
0.00004
|
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
|
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met)
|
rs377377656
|
0.00004
|
|
NM_006231.4(POLE):c.1560A>G (p.Gln520=)
|
rs201841065
|
0.00004
|
|
NM_006231.4(POLE):c.2178C>T (p.Tyr726=)
|
rs915331738
|
0.00004
|
|
NM_006231.4(POLE):c.330+3G>A
|
rs369152225
|
0.00004
|
|
NM_006231.4(POLE):c.4150-6C>T
|
rs756837862
|
0.00004
|
|
NM_006231.4(POLE):c.555C>T (p.Asp185=)
|
rs763871536
|
0.00004
|
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
|
NM_006231.4(POLE):c.834G>A (p.Thr278=)
|
rs758368160
|
0.00004
|
|
NM_006261.5(PROP1):c.359G>A (p.Arg120His)
|
rs769171020
|
0.00004
|
|
NM_006312.6(NCOR2):c.6520C>T (p.Arg2174Cys)
|
rs761892157
|
0.00004
|
|
NM_006348.5(COG5):c.613C>T (p.Arg205Ter)
|
rs370851836
|
0.00004
|
|
NM_006383.4(CIB2):c.130A>G (p.Met44Val)
|
rs142260703
|
0.00004
|
|
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter)
|
rs201845656
|
0.00004
|
|
NM_006393.3(NEBL):c.1116+17G>C
|
rs370094745
|
0.00004
|
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
|
NM_006506.5(RASA2):c.2400C>T (p.Ile800=)
|
rs144565084
|
0.00004
|
|
NM_006506.5(RASA2):c.615T>C (p.Asn205=)
|
rs767353410
|
0.00004
|
|
NM_006506.5(RASA2):c.656C>T (p.Pro219Leu)
|
rs944578775
|
0.00004
|
|
NM_006506.5(RASA2):c.717C>T (p.Ser239=)
|
rs183729614
|
0.00004
|
|
NM_006506.5(RASA2):c.71C>T (p.Pro24Leu)
|
rs536687230
|
0.00004
|
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
|
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe)
|
rs376510159
|
0.00004
|
|
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)
|
rs373591504
|
0.00004
|
|
NM_006767.4(LZTR1):c.1260+16G>A
|
rs376876059
|
0.00004
|
|
NM_006767.4(LZTR1):c.1353+16C>T
|
rs143592070
|
0.00004
|
|
NM_006767.4(LZTR1):c.1433G>A (p.Arg478Gln)
|
rs138036477
|
0.00004
|
|
NM_006767.4(LZTR1):c.1450-14C>T
|
rs767640622
|
0.00004
|
|
NM_006767.4(LZTR1):c.1943-4C>G
|
rs368391573
|
0.00004
|
|
NM_006767.4(LZTR1):c.2247C>T (p.Tyr749=)
|
rs779077819
|
0.00004
|
|
NM_006767.4(LZTR1):c.2274G>A (p.Ala758=)
|
rs144870586
|
0.00004
|
|
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)
|
rs199586863
|
0.00004
|
|
NM_006767.4(LZTR1):c.2355A>G (p.Ala785=)
|
rs751681487
|
0.00004
|
|
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)
|
rs764439278
|
0.00004
|
|
NM_006767.4(LZTR1):c.400+10C>T
|
rs375186405
|
0.00004
|
|
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)
|
rs370315661
|
0.00004
|
|
NM_006785.4(MALT1):c.92A>G (p.Asn31Ser)
|
rs888829305
|
0.00004
|
|
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)
|
rs139751598
|
0.00004
|
|
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
|
rs181275468
|
0.00004
|
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
|
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
|
rs569343105
|
0.00004
|
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
|
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln)
|
rs538341032
|
0.00004
|
|
NM_006939.4(SOS2):c.970-19A>G
|
rs369274700
|
0.00004
|
|
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)
|
rs747031778
|
0.00004
|
|
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln)
|
rs141717050
|
0.00004
|
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
|
NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg)
|
rs751313483
|
0.00004
|
|
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
|
rs121913659
|
0.00004
|
|
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu)
|
rs779150755
|
0.00004
|
|
NM_007118.4(TRIO):c.1143G>C (p.Gln381His)
|
rs369621289
|
0.00004
|
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008+8A>G
|
rs139986197
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
|
NM_007294.4(BRCA1):c.-16A>G
|
rs777262055
|
0.00004
|
|
NM_007294.4(BRCA1):c.1016A>C (p.Lys339Thr)
|
rs587781737
|
0.00004
|
|
NM_007294.4(BRCA1):c.1237T>C (p.Leu413=)
|
rs574008372
|
0.00004
|
|
NM_007294.4(BRCA1):c.1242C>T (p.Asp414=)
|
rs372400428
|
0.00004
|
|
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)
|
rs777228325
|
0.00004
|
|
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=)
|
rs775032066
|
0.00004
|
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
|
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)
|
rs80357374
|
0.00004
|
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
|
NM_007294.4(BRCA1):c.1893A>C (p.Leu631=)
|
rs80356834
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
|
NM_007294.4(BRCA1):c.2496A>T (p.Pro832=)
|
rs767666029
|
0.00004
|
|
NM_007294.4(BRCA1):c.2518A>G (p.Ser840Gly)
|
rs377475866
|
0.00004
|
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
|
NM_007294.4(BRCA1):c.2735A>G (p.Lys912Arg)
|
rs397507204
|
0.00004
|
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
|
NM_007294.4(BRCA1):c.288C>T (p.Asp96=)
|
rs146085503
|
0.00004
|
|
NM_007294.4(BRCA1):c.2936G>A (p.Arg979His)
|
rs80356985
|
0.00004
|
|
NM_007294.4(BRCA1):c.2979A>G (p.Lys993=)
|
rs772854836
|
0.00004
|
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
|
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)
|
rs530464947
|
0.00004
|
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
|
NM_007294.4(BRCA1):c.366T>G (p.Val122=)
|
rs190900046
|
0.00004
|
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00004
|
|
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)
|
rs80357407
|
0.00004
|
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
|
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)
|
rs80357022
|
0.00004
|
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
|
NM_007294.4(BRCA1):c.4657T>C (p.Leu1553=)
|
rs80357431
|
0.00004
|
|
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)
|
rs80356906
|
0.00004
|
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00004
|
|
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)
|
rs145466894
|
0.00004
|
|
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=)
|
rs28897697
|
0.00004
|
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
|
NM_007294.4(BRCA1):c.5352A>G (p.Val1784=)
|
rs767459025
|
0.00004
|
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
|
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)
|
rs773433679
|
0.00004
|
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
|
NM_007373.4(SHOC2):c.1423-15T>C
|
rs775689426
|
0.00004
|
|
NM_007373.4(SHOC2):c.1731A>G (p.Pro577=)
|
rs370929606
|
0.00004
|
|
NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu)
|
rs551494374
|
0.00004
|
|
NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile)
|
rs780788821
|
0.00004
|
|
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)
|
rs745590426
|
0.00004
|
|
NM_013382.7(POMT2):c.1785G>A (p.Pro595=)
|
rs202237807
|
0.00004
|
|
NM_013975.4(LIG3):c.2796+20C>T
|
rs778468086
|
0.00004
|
|
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln)
|
rs1170772176
|
0.00004
|
|
NM_014009.4(FOXP3):c.323C>T (p.Thr108Met)
|
rs782572328
|
0.00004
|
|
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn)
|
rs547697115
|
0.00004
|
|
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe)
|
rs146453758
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.511C>T (p.Arg171Cys)
|
rs375032955
|
0.00004
|
|
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)
|
rs28940289
|
0.00004
|
|
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met)
|
rs781358846
|
0.00004
|
|
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)
|
rs780761368
|
0.00004
|
|
NM_014697.3(NOS1AP):c.1309G>A (p.Glu437Lys)
|
rs771956293
|
0.00004
|
|
NM_014697.3(NOS1AP):c.1317C>A (p.Thr439=)
|
rs746807377
|
0.00004
|
|
NM_014697.3(NOS1AP):c.400C>A (p.Arg134=)
|
rs771468647
|
0.00004
|
|
NM_014704.4(CEP104):c.46G>A (p.Glu16Lys)
|
rs200997681
|
0.00004
|
|
NM_014704.4(CEP104):c.889C>G (p.Leu297Val)
|
rs367663723
|
0.00004
|
|
NM_014780.5(CUL7):c.2947C>T (p.Arg983Cys)
|
rs147713438
|
0.00004
|
|
NM_014780.5(CUL7):c.3893A>G (p.Asn1298Ser)
|
rs765531212
|
0.00004
|
|
NM_014845.6(FIG4):c.2080A>G (p.Met694Val)
|
rs143531641
|
0.00004
|
|
NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter)
|
rs746453731
|
0.00004
|
|
NM_015046.7(SETX):c.3810G>A (p.Pro1270=)
|
rs753022992
|
0.00004
|
|
NM_015175.3(NBEAL2):c.6993G>A (p.Gly2331=)
|
rs758526014
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
|
NM_015311.3(OBSL1):c.1034G>A (p.Arg345Gln)
|
rs781161790
|
0.00004
|
|
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys)
|
rs562419349
|
0.00004
|
|
NM_015404.4(WHRN):c.2540A>G (p.Gln847Arg)
|
rs545326842
|
0.00004
|
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00004
|
|
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr)
|
rs138345857
|
0.00004
|
|
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln)
|
rs764804901
|
0.00004
|
|
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)
|
rs755903123
|
0.00004
|
|
NM_015909.4(NBAS):c.245G>A (p.Arg82His)
|
rs763005913
|
0.00004
|
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
|
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
0.00004
|
|
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=)
|
rs148302546
|
0.00004
|
|
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=)
|
rs770791862
|
0.00004
|
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
|
NM_017547.4(FOXRED1):c.1112C>T (p.Pro371Leu)
|
rs773871022
|
0.00004
|
|
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)
|
rs267606829
|
0.00004
|
|
NM_017547.4(FOXRED1):c.7C>T (p.Arg3Trp)
|
rs756466676
|
0.00004
|
|
NM_017613.4(DONSON):c.1047-9A>G
|
rs779149681
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=)
|
rs758860870
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=)
|
rs375091696
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5168-4G>A
|
rs751709616
|
0.00004
|
|
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)
|
rs542798158
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
|
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter)
|
rs747166010
|
0.00004
|
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
|
NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly)
|
rs774242976
|
0.00004
|
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
|
NM_017934.7(PHIP):c.3766C>G (p.Leu1256Val)
|
rs975606164
|
0.00004
|
|
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)
|
rs373386030
|
0.00004
|
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
|
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp)
|
rs770335356
|
0.00004
|
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
|
NM_018941.4(CLN8):c.545C>T (p.Ala182Val)
|
rs541994118
|
0.00004
|
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
|
NM_019066.5(MAGEL2):c.2797G>A (p.Asp933Asn)
|
rs567298347
|
0.00004
|
|
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)
|
rs774593969
|
0.00004
|
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
|
NM_020297.4(ABCC9):c.-11T>C
|
rs72559432
|
0.00004
|
|
NM_020297.4(ABCC9):c.1551T>C (p.Ser517=)
|
rs996266050
|
0.00004
|
|
NM_020320.5(RARS2):c.1718C>T (p.Thr573Ile)
|
rs541516452
|
0.00004
|
|
NM_020366.4(RPGRIP1):c.1468-2A>G
|
rs751342895
|
0.00004
|
|
NM_020533.3(MCOLN1):c.1134+5G>A
|
rs781005728
|
0.00004
|
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
|
NM_020944.3(GBA2):c.1A>T (p.Met1Leu)
|
rs770566458
|
0.00004
|
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
|
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val)
|
rs375023370
|
0.00004
|
|
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln)
|
rs367947771
|
0.00004
|
|
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly)
|
rs373520842
|
0.00004
|
|
NM_021628.3(ALOXE3):c.680+1G>A
|
rs764781178
|
0.00004
|
|
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)
|
rs78257946
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.2330A>C (p.Gln777Pro)
|
rs758105113
|
0.00004
|
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
|
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)
|
rs281865164
|
0.00004
|
|
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr)
|
rs774238872
|
0.00004
|
|
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn)
|
rs727502920
|
0.00004
|
|
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln)
|
rs200263980
|
0.00004
|
|
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His)
|
rs746971522
|
0.00004
|
|
NM_022124.6(CDH23):c.6557C>T (p.Ser2186Leu)
|
rs770370555
|
0.00004
|
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
|
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)
|
rs781732933
|
0.00004
|
|
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys)
|
rs775044010
|
0.00004
|
|
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)
|
rs758125212
|
0.00004
|
|
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)
|
rs373836524
|
0.00004
|
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
|
NM_024306.5(FA2H):c.620C>T (p.Thr207Met)
|
rs372445274
|
0.00004
|
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
|
NM_024422.6(DSC2):c.2175A>C (p.Pro725=)
|
rs921649870
|
0.00004
|
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
|
NM_024426.6(WT1):c.813G>C (p.Pro271=)
|
rs1341857958
|
0.00004
|
|
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn)
|
rs748144224
|
0.00004
|
|
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00004
|
|
NM_024649.5(BBS1):c.745G>A (p.Val249Ile)
|
rs139145556
|
0.00004
|
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
|
NM_024675.4(PALB2):c.2082A>G (p.Thr694=)
|
rs781440401
|
0.00004
|
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00004
|
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
|
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=)
|
rs141570833
|
0.00004
|
|
NM_024675.4(PALB2):c.339A>C (p.Pro113=)
|
rs376182266
|
0.00004
|
|
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)
|
rs150517167
|
0.00004
|
|
NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser)
|
rs576835969
|
0.00004
|
|
NM_025074.7(FRAS1):c.2080G>A (p.Glu694Lys)
|
rs773007418
|
0.00004
|
|
NM_025074.7(FRAS1):c.4843+2T>C
|
rs370018000
|
0.00004
|
|
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter)
|
rs1053748363
|
0.00004
|
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
|
NM_025265.4(TSEN2):c.1099+1G>A
|
rs149417061
|
0.00004
|
|
NM_025265.4(TSEN2):c.472G>A (p.Val158Ile)
|
rs763286358
|
0.00004
|
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
|
NM_030662.4(MAP2K2):c.240G>A (p.Ala80=)
|
rs543217722
|
0.00004
|
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
|
NM_030662.4(MAP2K2):c.456C>T (p.Gly152=)
|
rs143106439
|
0.00004
|
|
NM_030662.4(MAP2K2):c.528+11C>T
|
rs369913089
|
0.00004
|
|
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)
|
rs147276536
|
0.00004
|
|
NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp)
|
rs759998177
|
0.00004
|
|
NM_030662.4(MAP2K2):c.889C>T (p.Arg297Trp)
|
rs562352756
|
0.00004
|
|
NM_030662.4(MAP2K2):c.93-6C>T
|
rs727504836
|
0.00004
|
|
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)
|
rs367623970
|
0.00004
|
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
|
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)
|
rs746505864
|
0.00004
|
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
|
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=)
|
rs775431508
|
0.00004
|
|
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)
|
rs373709958
|
0.00004
|
|
NM_032043.3(BRIP1):c.1935+7T>C
|
rs201024366
|
0.00004
|
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
rs550815037
|
0.00004
|
|
NM_032121.5(MAGT1):c.31T>G (p.Phe11Val)
|
rs913458526
|
0.00004
|
|
NM_032444.4(SLX4):c.800C>T (p.Ala267Val)
|
rs752160984
|
0.00004
|
|
NM_032495.6(HOPX):c.167C>T (p.Ala56Val)
|
rs752905777
|
0.00004
|
|
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln)
|
rs756043994
|
0.00004
|
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
|
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser)
|
rs757653472
|
0.00004
|
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
|
NM_052867.4(NALCN):c.540T>C (p.Ser180=)
|
rs189925089
|
0.00004
|
|
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr)
|
rs375501508
|
0.00004
|
|
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met)
|
rs531232445
|
0.00004
|
|
NM_053025.4(MYLK):c.2391-16C>T
|
rs780727874
|
0.00004
|
|
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu)
|
rs368229473
|
0.00004
|
|
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met)
|
rs375433770
|
0.00004
|
|
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)
|
rs375038682
|
0.00004
|
|
NM_053025.4(MYLK):c.695C>T (p.Thr232Met)
|
rs55935214
|
0.00004
|
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
|
NM_057176.3(BSND):c.22C>T (p.Arg8Trp)
|
rs74315285
|
0.00004
|
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
|
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
|
NM_078470.6(COX15):c.135C>T (p.Thr45=)
|
rs373219878
|
0.00004
|
|
NM_130797.4(DPP6):c.1820C>T (p.Pro607Leu)
|
rs760754791
|
0.00004
|
|
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)
|
rs148430495
|
0.00004
|
|
NM_133459.4(CCBE1):c.916-2A>G
|
rs367990953
|
0.00004
|
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
|
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile)
|
rs147035447
|
0.00004
|
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
|
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly)
|
rs142910445
|
0.00004
|
|
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter)
|
rs201698934
|
0.00004
|
|
NM_139076.3(ABRAXAS1):c.580G>T (p.Ala194Ser)
|
rs1020540603
|
0.00004
|
|
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=)
|
rs769383568
|
0.00004
|
|
NM_139076.3(ABRAXAS1):c.87+8G>C
|
rs760693074
|
0.00004
|
|
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg)
|
rs369209552
|
0.00004
|
|
NM_144573.4(NEXN):c.1065T>C (p.Asp355=)
|
rs369897647
|
0.00004
|
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
|
NM_144670.6(A2ML1):c.1081-2A>G
|
rs377270924
|
0.00004
|
|
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser)
|
rs758716034
|
0.00004
|
|
NM_144670.6(A2ML1):c.1476+15C>T
|
rs759159005
|
0.00004
|
|
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp)
|
rs748309907
|
0.00004
|
|
NM_144670.6(A2ML1):c.2114T>C (p.Met705Thr)
|
rs748085779
|
0.00004
|
|
NM_144670.6(A2ML1):c.2259C>T (p.His753=)
|
rs747555996
|
0.00004
|
|
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile)
|
rs769726608
|
0.00004
|
|
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu)
|
rs758305694
|
0.00004
|
|
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val)
|
rs753161669
|
0.00004
|
|
NM_144670.6(A2ML1):c.375G>T (p.Gln125His)
|
rs377484849
|
0.00004
|
|
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met)
|
rs201083574
|
0.00004
|
|
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu)
|
rs190379856
|
0.00004
|
|
NM_144991.3(TSPEAR):c.1819G>A (p.Asp607Asn)
|
rs587622341
|
0.00004
|
|
NM_145239.3(PRRT2):c.304G>A (p.Glu102Lys)
|
rs748419907
|
0.00004
|
|
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His)
|
rs145179304
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
|
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)
|
rs765914942
|
0.00004
|
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
|
NM_152594.3(SPRED1):c.32+20C>T
|
rs374284804
|
0.00004
|
|
NM_152594.3(SPRED1):c.594T>C (p.Gly198=)
|
rs756643495
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys)
|
rs768954477
|
0.00004
|
|
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
|
rs760831781
|
0.00004
|
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
|
NM_153717.3(EVC):c.2305-6C>T
|
rs781705295
|
0.00004
|
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
|
NM_170707.4(LMNA):c.357-20C>T
|
rs193922724
|
0.00004
|
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
|
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu)
|
rs774206764
|
0.00004
|
|
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)
|
rs141423405
|
0.00004
|
|
NM_173076.3(ABCA12):c.6305A>T (p.Tyr2102Phe)
|
rs770806176
|
0.00004
|
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
|
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)
|
rs137852863
|
0.00004
|
|
NM_174934.4(SCN4B):c.*7C>T
|
rs79071006
|
0.00004
|
|
NM_174934.4(SCN4B):c.463+3A>T
|
rs751139039
|
0.00004
|
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
|
NM_174936.4(PCSK9):c.1539C>T (p.Asn513=)
|
rs781492750
|
0.00004
|
|
NM_174936.4(PCSK9):c.1791C>T (p.His597=)
|
rs374856617
|
0.00004
|
|
NM_174936.4(PCSK9):c.1863+1G>A
|
rs765335983
|
0.00004
|
|
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)
|
rs185392267
|
0.00004
|
|
NM_174936.4(PCSK9):c.290G>A (p.Arg97His)
|
rs376385276
|
0.00004
|
|
NM_175914.5(HNF4A):c.50-4700G>A
|
rs568730599
|
0.00004
|
|
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
|
rs193922477
|
0.00004
|
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
|
NM_181458.4(PAX3):c.874G>A (p.Gly292Arg)
|
rs142651003
|
0.00004
|
|
NM_181552.4(CUX1):c.358G>A (p.Glu120Lys)
|
rs1042943750
|
0.00004
|
|
NM_182760.4(SUMF1):c.602+1G>A
|
rs143616931
|
0.00004
|
|
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly)
|
rs763363520
|
0.00004
|
|
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr)
|
rs759802358
|
0.00004
|
|
NM_182943.3(PLOD2):c.1138C>T (p.Arg380Cys)
|
rs376005437
|
0.00004
|
|
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)
|
rs893004444
|
0.00004
|
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00004
|
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
|
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)
|
rs398124591
|
0.00004
|
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
|
NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser)
|
rs141540493
|
0.00004
|
|
NM_199242.3(UNC13D):c.5C>T (p.Ala2Val)
|
rs752295384
|
0.00004
|
|
NM_201548.5(CERKL):c.950G>A (p.Arg317His)
|
rs150587104
|
0.00004
|
|
NM_203446.3(SYNJ1):c.1744A>G (p.Thr582Ala)
|
rs370817503
|
0.00004
|
|
NM_206933.4(USH2A):c.10807G>A (p.Ala3603Thr)
|
rs539580993
|
0.00004
|
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
|
NM_206933.4(USH2A):c.1840+9C>T
|
rs1452138200
|
0.00004
|
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
|
NM_207346.3(TSEN54):c.1430+4C>T
|
rs202109896
|
0.00004
|
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
|
NR_003051.3(RMRP):n.64C>T
|
rs786204684
|
0.00004
|
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00003
|
|
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr)
|
rs1267288663
|
0.00003
|
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
|
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln)
|
rs774762384
|
0.00003
|
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
|
NM_000022.4(ADA):c.945G>A (p.Met315Ile)
|
rs889823379
|
0.00003
|
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
|
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly)
|
rs1224689084
|
0.00003
|
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
|
NM_000038.6(APC):c.1405C>T (p.Leu469=)
|
rs746293695
|
0.00003
|
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
|
NM_000038.6(APC):c.1686G>A (p.Thr562=)
|
rs770256026
|
0.00003
|
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
|
NM_000038.6(APC):c.211C>T (p.Arg71Cys)
|
rs767741687
|
0.00003
|
|
NM_000038.6(APC):c.2870A>G (p.Lys957Arg)
|
rs777881096
|
0.00003
|
|
NM_000038.6(APC):c.296G>A (p.Arg99Gln)
|
rs199842850
|
0.00003
|
|
NM_000038.6(APC):c.3299C>T (p.Ser1100Phe)
|
rs863224541
|
0.00003
|
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
|
NM_000038.6(APC):c.379A>G (p.Ser127Gly)
|
rs200089324
|
0.00003
|
|
NM_000038.6(APC):c.385G>C (p.Glu129Gln)
|
rs376628500
|
0.00003
|
|
NM_000038.6(APC):c.4016G>A (p.Gly1339Asp)
|
rs781621926
|
0.00003
|
|
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg)
|
rs758815860
|
0.00003
|
|
NM_000038.6(APC):c.5181C>T (p.Cys1727=)
|
rs1554086499
|
0.00003
|
|
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)
|
rs766739164
|
0.00003
|
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
|
NM_000038.6(APC):c.6750C>T (p.Gly2250=)
|
rs555799753
|
0.00003
|
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
|
NM_000038.6(APC):c.7146A>T (p.Thr2382=)
|
rs780566379
|
0.00003
|
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
|
NM_000038.6(APC):c.7209G>A (p.Gln2403=)
|
rs769603145
|
0.00003
|
|
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala)
|
rs730881260
|
0.00003
|
|
NM_000038.6(APC):c.7278A>G (p.Gly2426=)
|
rs756770951
|
0.00003
|
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
|
NM_000038.6(APC):c.7731A>G (p.Ser2577=)
|
rs537187449
|
0.00003
|
|
NM_000038.6(APC):c.8010A>G (p.Arg2670=)
|
rs786201524
|
0.00003
|
|
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)
|
rs371616945
|
0.00003
|
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
|
NM_000038.6(APC):c.848G>A (p.Arg283Gln)
|
rs149154604
|
0.00003
|
|
NM_000044.6(AR):c.2659A>G (p.Met887Val)
|
rs755226547
|
0.00003
|
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
|
NM_000046.5(ARSB):c.1336+2T>G
|
rs768012515
|
0.00003
|
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
|
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)
|
rs768874297
|
0.00003
|
|
NM_000051.4(ATM):c.2187C>T (p.Tyr729=)
|
rs373430058
|
0.00003
|
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
|
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)
|
rs564238520
|
0.00003
|
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
|
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)
|
rs377349886
|
0.00003
|
|
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)
|
rs587781741
|
0.00003
|
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
|
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg)
|
rs752559455
|
0.00003
|
|
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe)
|
rs759340881
|
0.00003
|
|
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)
|
rs876658474
|
0.00003
|
|
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)
|
rs145236132
|
0.00003
|
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
|
NM_000051.4(ATM):c.5005+7T>C
|
rs527286038
|
0.00003
|
|
NM_000051.4(ATM):c.5069A>G (p.His1690Arg)
|
rs863224574
|
0.00003
|
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
|
NM_000051.4(ATM):c.5550A>G (p.Leu1850=)
|
rs35850088
|
0.00003
|
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
|
NM_000051.4(ATM):c.6526T>C (p.Leu2176=)
|
rs143715818
|
0.00003
|
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
|
NM_000051.4(ATM):c.8100A>G (p.Lys2700=)
|
rs778601472
|
0.00003
|
|
NM_000051.4(ATM):c.8152-6C>T
|
rs200389039
|
0.00003
|
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
|
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
0.00003
|
|
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del)
|
rs772383075
|
0.00003
|
|
NM_000053.4(ATP7B):c.2447+8A>G
|
rs747586752
|
0.00003
|
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
|
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile)
|
rs761147984
|
0.00003
|
|
NM_000053.4(ATP7B):c.327G>A (p.Leu109=)
|
rs760990530
|
0.00003
|
|
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
|
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)
|
rs121907999
|
0.00003
|
|
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)
|
rs115129687
|
0.00003
|
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
|
NM_000059.4(BRCA2):c.*15G>A
|
rs376501142
|
0.00003
|
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00003
|
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
|
NM_000059.4(BRCA2):c.1216G>A (p.Ala406Thr)
|
rs751535164
|
0.00003
|
|
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu)
|
rs781079248
|
0.00003
|
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
|
NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln)
|
rs587782014
|
0.00003
|
|
NM_000059.4(BRCA2):c.273C>T (p.Tyr91=)
|
rs145988146
|
0.00003
|
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
0.00003
|
|
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)
|
rs779228375
|
0.00003
|
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
|
NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val)
|
rs587782072
|
0.00003
|
|
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=)
|
rs4986856
|
0.00003
|
|
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys)
|
rs80358606
|
0.00003
|
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
|
NM_000059.4(BRCA2):c.3711T>C (p.Ala1237=)
|
rs745588537
|
0.00003
|
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
|
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=)
|
rs786201377
|
0.00003
|
|
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile)
|
rs397507714
|
0.00003
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.4527A>C (p.Gln1509His)
|
rs56283738
|
0.00003
|
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
|
NM_000059.4(BRCA2):c.476-15T>C
|
rs200458964
|
0.00003
|
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
rs587782714
|
0.00003
|
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
|
NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp)
|
rs397507358
|
0.00003
|
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
|
NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)
|
rs80358857
|
0.00003
|
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
|
NM_000059.4(BRCA2):c.627C>T (p.Leu209=)
|
rs28897704
|
0.00003
|
|
NM_000059.4(BRCA2):c.632-13T>G
|
rs775947267
|
0.00003
|
|
NM_000059.4(BRCA2):c.632-16A>C
|
rs81002905
|
0.00003
|
|
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu)
|
rs80358891
|
0.00003
|
|
NM_000059.4(BRCA2):c.6771C>T (p.Pro2257=)
|
rs373696964
|
0.00003
|
|
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His)
|
rs748541466
|
0.00003
|
|
NM_000059.4(BRCA2):c.6842-14A>G
|
rs81002821
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000059.4(BRCA2):c.7341T>C (p.Asn2447=)
|
rs4986858
|
0.00003
|
|
NM_000059.4(BRCA2):c.7436-14T>G
|
rs81002814
|
0.00003
|
|
NM_000059.4(BRCA2):c.7506C>G (p.Arg2502=)
|
rs140693106
|
0.00003
|
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
|
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=)
|
rs748631472
|
0.00003
|
|
NM_000059.4(BRCA2):c.7632C>T (p.Gly2544=)
|
rs551834979
|
0.00003
|
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
|
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=)
|
rs556762256
|
0.00003
|
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
|
NM_000059.4(BRCA2):c.9118-20T>G
|
rs776528159
|
0.00003
|
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=)
|
rs80359805
|
0.00003
|
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
|
NM_000070.3(CAPN3):c.2417T>G (p.Ile806Ser)
|
rs753854306
|
0.00003
|
|
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln)
|
rs139671324
|
0.00003
|
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
|
NM_000071.3(CBS):c.1272C>T (p.Thr424=)
|
rs141717913
|
0.00003
|
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
|
NM_000071.3(CBS):c.147G>A (p.Pro49=)
|
rs771719483
|
0.00003
|
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
|
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)
|
rs121964965
|
0.00003
|
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
|
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)
|
rs143124288
|
0.00003
|
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
|
NM_000071.3(CBS):c.918C>T (p.Ile306=)
|
rs201950895
|
0.00003
|
|
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln)
|
rs587778184
|
0.00003
|
|
NM_000075.4(CDK4):c.549C>T (p.Pro183=)
|
rs778696237
|
0.00003
|
|
NM_000075.4(CDK4):c.753C>G (p.Pro251=)
|
rs757333818
|
0.00003
|
|
NM_000075.4(CDK4):c.84T>C (p.Ser28=)
|
rs763203404
|
0.00003
|
|
NM_000077.5(CDKN2A):c.147C>A (p.Ile49=)
|
rs200738474
|
0.00003
|
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
|
NM_000077.5(CDKN2A):c.25A>T (p.Met9Leu)
|
rs748866274
|
0.00003
|
|
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)
|
rs146464862
|
0.00003
|
|
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=)
|
rs778647317
|
0.00003
|
|
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr)
|
rs139881658
|
0.00003
|
|
NM_000088.4(COL1A1):c.3045+3G>A
|
rs41316695
|
0.00003
|
|
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)
|
rs1206388800
|
0.00003
|
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
|
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser)
|
rs201468881
|
0.00003
|
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
|
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=)
|
rs760426595
|
0.00003
|
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
|
NM_000096.4(CP):c.1049C>A (p.Ala350Asp)
|
rs386134127
|
0.00003
|
|
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)
|
rs1374394802
|
0.00003
|
|
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
|
rs368311455
|
0.00003
|
|
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)
|
rs727503887
|
0.00003
|
|
NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter)
|
rs72549381
|
0.00003
|
|
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)
|
rs147601618
|
0.00003
|
|
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)
|
rs141597515
|
0.00003
|
|
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)
|
rs547099198
|
0.00003
|
|
NM_000110.4(DPYD):c.2657G>A (p.Arg886His)
|
rs1801267
|
0.00003
|
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
|
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys)
|
rs386833504
|
0.00003
|
|
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)
|
rs104893917
|
0.00003
|
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
|
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)
|
rs121434570
|
0.00003
|
|
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)
|
rs116715649
|
0.00003
|
|
NM_000132.4(F8):c.2852C>G (p.Ser951Cys)
|
rs138183956
|
0.00003
|
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
|
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
|
rs768676657
|
0.00003
|
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00003
|
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
|
NM_000138.5(FBN1):c.5517C>T (p.Tyr1839=)
|
rs750667880
|
0.00003
|
|
NM_000138.5(FBN1):c.6314-16A>G
|
rs759468929
|
0.00003
|
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
|
NM_000141.5(FGFR2):c.2195+7G>A
|
rs377397478
|
0.00003
|
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
|
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu)
|
rs779202612
|
0.00003
|
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
|
NM_000154.2(GALK1):c.552C>G (p.Ile184Met)
|
rs773416476
|
0.00003
|
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00003
|
|
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)
|
rs111033693
|
0.00003
|
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
|
NM_000155.4(GALT):c.640G>A (p.Gly214Arg)
|
rs1413579895
|
0.00003
|
|
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
|
rs370421531
|
0.00003
|
|
NM_000157.4(GBA1):c.1447C>T (p.Leu483=)
|
rs369966551
|
0.00003
|
|
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)
|
rs439898
|
0.00003
|
|
NM_000157.4(GBA1):c.497A>T (p.Asp166Val)
|
rs79796061
|
0.00003
|
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
|
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)
|
rs381418
|
0.00003
|
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
|
NM_000159.4(GCDH):c.1244-2A>C
|
rs199999619
|
0.00003
|
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
|
NM_000162.5(GCK):c.-5T>C
|
rs193922251
|
0.00003
|
|
NM_000162.5(GCK):c.138G>A (p.Arg46=)
|
rs550111033
|
0.00003
|
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
|
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val)
|
rs587782331
|
0.00003
|
|
NM_000179.3(MSH6):c.1065T>C (p.Gly355=)
|
rs984907158
|
0.00003
|
|
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)
|
rs587781660
|
0.00003
|
|
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
|
rs1042819
|
0.00003
|
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
|
NM_000179.3(MSH6):c.1785A>G (p.Leu595=)
|
rs767325893
|
0.00003
|
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
|
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)
|
rs143517321
|
0.00003
|
|
NM_000179.3(MSH6):c.1917G>A (p.Glu639=)
|
rs368059229
|
0.00003
|
|
NM_000179.3(MSH6):c.2319C>T (p.Leu773=)
|
rs63749895
|
0.00003
|
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
|
NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys)
|
rs372103816
|
0.00003
|
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
|
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)
|
rs775971872
|
0.00003
|
|
NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu)
|
rs369778514
|
0.00003
|
|
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)
|
rs63750554
|
0.00003
|
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
|
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr)
|
rs148445930
|
0.00003
|
|
NM_000179.3(MSH6):c.3845C>A (p.Thr1282Asn)
|
rs876660361
|
0.00003
|
|
NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)
|
rs267608129
|
0.00003
|
|
NM_000179.3(MSH6):c.393A>C (p.Val131=)
|
rs752488540
|
0.00003
|
|
NM_000179.3(MSH6):c.3974A>G (p.Lys1325Arg)
|
rs876658189
|
0.00003
|
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
|
NM_000179.3(MSH6):c.627+9C>T
|
rs373155872
|
0.00003
|
|
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)
|
rs542848931
|
0.00003
|
|
NM_000182.5(HADHA):c.1391C>T (p.Ala464Val)
|
rs147409050
|
0.00003
|
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
|
NM_000188.3(HK1):c.2381G>A (p.Arg794Gln)
|
rs780518562
|
0.00003
|
|
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)
|
rs538274657
|
0.00003
|
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
|
NM_000199.5(SGSH):c.391G>A (p.Val131Met)
|
rs370636303
|
0.00003
|
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
|
NM_000204.5(CFI):c.1071T>G (p.Ile357Met)
|
rs200881135
|
0.00003
|
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1514+3G>A
|
rs374767819
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
|
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)
|
rs760047145
|
0.00003
|
|
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu)
|
rs201223111
|
0.00003
|
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
|
NM_000228.3(LAMB3):c.565-2A>G
|
rs370148688
|
0.00003
|
|
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser)
|
rs747795143
|
0.00003
|
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
|
NM_000237.3(LPL):c.190G>A (p.Val64Met)
|
rs114101772
|
0.00003
|
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
|
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)
|
rs773724817
|
0.00003
|
|
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)
|
rs749759697
|
0.00003
|
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
|
NM_000243.3(MEFV):c.1886dup (p.Pro630fs)
|
rs876660997
|
0.00003
|
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
|
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)
|
rs200375017
|
0.00003
|
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
|
NM_000246.4(CIITA):c.2888+1G>A
|
rs372826934
|
0.00003
|
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
|
NM_000249.4(MLH1):c.1562T>A (p.Leu521His)
|
rs1258738224
|
0.00003
|
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
|
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)
|
rs63749900
|
0.00003
|
|
NM_000249.4(MLH1):c.453+20G>T
|
rs759417195
|
0.00003
|
|
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)
|
rs2020872
|
0.00003
|
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
|
NM_000251.3(MSH2):c.594A>G (p.Glu198=)
|
rs369685768
|
0.00003
|
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
|
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)
|
rs774159791
|
0.00003
|
|
NM_000255.4(MMUT):c.1677-1G>A
|
rs754369323
|
0.00003
|
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
|
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)
|
rs200596762
|
0.00003
|
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
|
NM_000256.3(MYBPC3):c.165C>T (p.Tyr55=)
|
rs780012957
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2010C>T (p.Asp670=)
|
rs558051480
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2064G>A (p.Thr688=)
|
rs758224257
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
|
NM_000257.4(MYH7):c.3246-17T>A
|
rs766164113
|
0.00003
|
|
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)
|
rs760218400
|
0.00003
|
|
NM_000258.3(MYL3):c.245C>T (p.Ala82Val)
|
rs752549068
|
0.00003
|
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355
|
0.00003
|
|
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)
|
rs781916427
|
0.00003
|
|
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)
|
rs766898310
|
0.00003
|
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
|
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser)
|
rs374150662
|
0.00003
|
|
NM_000275.3(OCA2):c.1048G>A (p.Val350Met)
|
rs533478642
|
0.00003
|
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
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_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
|
NM_000292.3(PHKA2):c.200G>A (p.Arg67His)
|
rs768524028
|
0.00003
|
|
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp)
|
rs748646169
|
0.00003
|
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
|
NM_000311.5(PRNP):c.565G>A (p.Val189Ile)
|
rs1178466848
|
0.00003
|
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_000314.8(PTEN):c.855A>G (p.Glu285=)
|
rs751888926
|
0.00003
|
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
|
NM_000320.3(QDPR):c.545+1G>A
|
rs761619802
|
0.00003
|
|
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys)
|
rs775252439
|
0.00003
|
|
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)
|
rs137853291
|
0.00003
|
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
|
NM_000334.4(SCN4A):c.4540G>A (p.Asp1514Asn)
|
rs374278037
|
0.00003
|
|
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln)
|
rs769292594
|
0.00003
|
|
NM_000335.5(SCN5A):c.2364C>T (p.Ile788=)
|
rs183177363
|
0.00003
|
|
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=)
|
rs376734571
|
0.00003
|
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
|
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)
|
rs199473191
|
0.00003
|
|
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)
|
rs199473197
|
0.00003
|
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
|
NM_000335.5(SCN5A):c.3508+11G>A
|
rs200058362
|
0.00003
|
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
|
NM_000335.5(SCN5A):c.482+10T>G
|
rs762598150
|
0.00003
|
|
NM_000335.5(SCN5A):c.5371G>A (p.Asp1791Asn)
|
rs727504495
|
0.00003
|
|
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)
|
rs199473328
|
0.00003
|
|
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)
|
rs371308670
|
0.00003
|
|
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)
|
rs104894090
|
0.00003
|
|
NM_000349.3(STAR):c.653C>T (p.Ala218Val)
|
rs137852690
|
0.00003
|
|
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met)
|
rs61749426
|
0.00003
|
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
|
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)
|
rs121918724
|
0.00003
|
|
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln)
|
rs771051927
|
0.00003
|
|
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)
|
rs121918717
|
0.00003
|
|
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr)
|
rs751125011
|
0.00003
|
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
|
NM_000375.3(UROS):c.10C>T (p.Leu4Phe)
|
rs121908015
|
0.00003
|
|
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)
|
rs769255883
|
0.00003
|
|
NM_000381.4(MID1):c.1888G>A (p.Asp630Asn)
|
rs150291968
|
0.00003
|
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
|
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile)
|
rs929430876
|
0.00003
|
|
NM_000384.3(APOB):c.10344C>T (p.Thr3448=)
|
rs13306193
|
0.00003
|
|
NM_000384.3(APOB):c.10541C>T (p.Ala3514Val)
|
rs1450324476
|
0.00003
|
|
NM_000387.6(SLC25A20):c.199-10T>G
|
rs541208710
|
0.00003
|
|
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile)
|
rs267599574
|
0.00003
|
|
NM_000388.4(CASR):c.566A>G (p.Asn189Ser)
|
rs762998933
|
0.00003
|
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
|
NM_000397.4(CYBB):c.1151+13T>C
|
rs781868409
|
0.00003
|
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
|
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)
|
rs201009485
|
0.00003
|
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
|
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=)
|
rs1047569721
|
0.00003
|
|
NM_000426.4(LAMA2):c.4717+4C>T
|
rs200898063
|
0.00003
|
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
|
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser)
|
rs1037196284
|
0.00003
|
|
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val)
|
rs765478923
|
0.00003
|
|
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp)
|
rs1293482406
|
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_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
|
NM_000455.5(STK11):c.464+10C>T
|
rs587782445
|
0.00003
|
|
NM_000455.5(STK11):c.552C>T (p.Leu184=)
|
rs587780719
|
0.00003
|
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
|
NM_000455.5(STK11):c.588C>T (p.Gly196=)
|
rs769309428
|
0.00003
|
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
|
NM_000455.5(STK11):c.876C>T (p.Tyr292=)
|
rs148928808
|
0.00003
|
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
|
NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn)
|
rs774352844
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
|
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
|
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe)
|
rs1064793959
|
0.00003
|
|
NM_000465.4(BARD1):c.2137G>A (p.Val713Met)
|
rs546077003
|
0.00003
|
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
|
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu)
|
rs780241203
|
0.00003
|
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
|
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)
|
rs552831415
|
0.00003
|
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
|
NM_000489.6(ATRX):c.6327-16A>G
|
rs1457254023
|
0.00003
|
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00003
|
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
|
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu)
|
rs748155731
|
0.00003
|
|
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser)
|
rs777850419
|
0.00003
|
|
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)
|
rs397508185
|
0.00003
|
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
|
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)
|
rs139054556
|
0.00003
|
|
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)
|
rs397508210
|
0.00003
|
|
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)
|
rs397508211
|
0.00003
|
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
|
NM_000492.4(CFTR):c.1500C>A (p.Gly500=)
|
rs762619288
|
0.00003
|
|
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser)
|
rs1276867493
|
0.00003
|
|
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)
|
rs762224063
|
0.00003
|
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
|
NM_000492.4(CFTR):c.1734A>G (p.Leu578=)
|
rs201025424
|
0.00003
|
|
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr)
|
rs397508300
|
0.00003
|
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
|
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn)
|
rs780526529
|
0.00003
|
|
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)
|
rs397508335
|
0.00003
|
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
|
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser)
|
rs138069616
|
0.00003
|
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
|
NM_000492.4(CFTR):c.250T>C (p.Tyr84His)
|
rs745756794
|
0.00003
|
|
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser)
|
rs562851847
|
0.00003
|
|
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)
|
rs79633941
|
0.00003
|
|
NM_000492.4(CFTR):c.2703C>T (p.Asn901=)
|
rs764201518
|
0.00003
|
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
|
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu)
|
rs397508443
|
0.00003
|
|
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys)
|
rs779569793
|
0.00003
|
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
|
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
|
rs373561883
|
0.00003
|
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
|
NM_000492.4(CFTR):c.3128T>A (p.Leu1043Gln)
|
rs1026006397
|
0.00003
|
|
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)
|
rs1800113
|
0.00003
|
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
|
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln)
|
rs763401376
|
0.00003
|
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
0.00003
|
|
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val)
|
rs773852510
|
0.00003
|
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
|
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)
|
rs145545286
|
0.00003
|
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00003
|
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
|
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)
|
rs397508754
|
0.00003
|
|
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr)
|
rs748026786
|
0.00003
|
|
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)
|
rs397508777
|
0.00003
|
|
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr)
|
rs866473559
|
0.00003
|
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
|
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp)
|
rs773509355
|
0.00003
|
|
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)
|
rs775479837
|
0.00003
|
|
NM_000500.9(CYP21A2):c.293-7C>G
|
rs193922544
|
0.00003
|
|
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg)
|
rs372889752
|
0.00003
|
|
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)
|
rs754731091
|
0.00003
|
|
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)
|
rs200374326
|
0.00003
|
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
0.00003
|
|
NM_000518.5(HBB):c.-151C>T
|
rs63751208
|
0.00003
|
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
|
NM_000518.5(HBB):c.-75G>C
|
rs63750400
|
0.00003
|
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
|
NM_000518.5(HBB):c.316-12T>C
|
rs781604042
|
0.00003
|
|
NM_000518.5(HBB):c.316-28G>A
|
rs771736852
|
0.00003
|
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
|
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
|
rs1227959449
|
0.00003
|
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
|
NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)
|
rs139445409
|
0.00003
|
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
|
NM_000527.5(LDLR):c.186G>A (p.Thr62=)
|
rs55958434
|
0.00003
|
|
NM_000527.5(LDLR):c.1954A>G (p.Met652Val)
|
rs730882111
|
0.00003
|
|
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
|
rs543852919
|
0.00003
|
|
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)
|
rs879255203
|
0.00003
|
|
NM_000527.5(LDLR):c.2510A>G (p.His837Arg)
|
rs150631538
|
0.00003
|
|
NM_000527.5(LDLR):c.450C>T (p.Pro150=)
|
rs773365925
|
0.00003
|
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1230+5G>T
|
rs1398531876
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2355+6T>A
|
rs1052970162
|
0.00003
|
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
|
NM_000535.7(PMS2):c.1041G>A (p.Glu347=)
|
rs150515238
|
0.00003
|
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
|
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)
|
rs63750686
|
0.00003
|
|
NM_000535.7(PMS2):c.1668A>G (p.Glu556=)
|
rs876659780
|
0.00003
|
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
|
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser)
|
rs63750534
|
0.00003
|
|
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln)
|
rs63751230
|
0.00003
|
|
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe)
|
rs748927376
|
0.00003
|
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
|
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn)
|
rs587781913
|
0.00003
|
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
|
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)
|
rs876661233
|
0.00003
|
|
NM_000535.7(PMS2):c.681C>T (p.Ile227=)
|
rs188813057
|
0.00003
|
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
|
NM_000535.7(PMS2):c.885G>A (p.Arg295=)
|
rs786201615
|
0.00003
|
|
NM_000535.7(PMS2):c.915C>T (p.Leu305=)
|
rs767392742
|
0.00003
|
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
|
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)
|
rs193922574
|
0.00003
|
|
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)
|
rs36001797
|
0.00003
|
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
|
NM_000540.3(RYR1):c.345+15G>A
|
rs199755207
|
0.00003
|
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
|
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
|
rs483353044
|
0.00003
|
|
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
|
NM_000546.6(TP53):c.180A>C (p.Pro60=)
|
rs749289195
|
0.00003
|
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
|
NM_000546.6(TP53):c.920-5C>T
|
rs34361146
|
0.00003
|
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
|
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)
|
rs201694466
|
0.00003
|
|
NM_000551.4(VHL):c.549G>A (p.Ser183=)
|
rs193922614
|
0.00003
|
|
NM_000552.5(VWF):c.2025G>A (p.Pro675=)
|
rs779045480
|
0.00003
|
|
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu)
|
rs62643631
|
0.00003
|
|
NM_000552.5(VWF):c.5311G>A (p.Gly1771Arg)
|
rs370016586
|
0.00003
|
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
|
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=)
|
rs781074075
|
0.00003
|
|
NM_000719.7(CACNA1C):c.3157-7C>T
|
rs759274364
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=)
|
rs368046891
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
|
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val)
|
rs748425556
|
0.00003
|
|
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)
|
rs121912243
|
0.00003
|
|
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)
|
rs1364383591
|
0.00003
|
|
NM_000823.4(GHRHR):c.431T>A (p.Leu144His)
|
rs121918118
|
0.00003
|
|
NM_000875.5(IGF1R):c.3432C>T (p.Ala1144=)
|
rs745442206
|
0.00003
|
|
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)
|
rs72549322
|
0.00003
|
|
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)
|
rs765269946
|
0.00003
|
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
|
NM_001008216.2(GALE):c.652G>A (p.Gly218Arg)
|
rs747453873
|
0.00003
|
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
|
NM_001018005.2(TPM1):c.375-3C>T
|
rs202228866
|
0.00003
|
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
|
NM_001018005.2(TPM1):c.563+16G>A
|
rs375227208
|
0.00003
|
|
NM_001018005.2(TPM1):c.563+347C>T
|
rs759081217
|
0.00003
|
|
NM_001032283.3(TMPO):c.330A>G (p.Leu110=)
|
rs776054749
|
0.00003
|
|
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
|
rs121908156
|
0.00003
|
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
|
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)
|
rs1409192667
|
0.00003
|
|
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr)
|
rs773264033
|
0.00003
|
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
|
NM_001035.3(RYR2):c.1962-13C>T
|
rs549804448
|
0.00003
|
|
NM_001035.3(RYR2):c.2396+10T>C
|
rs745329806
|
0.00003
|
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
|
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)
|
rs370568809
|
0.00003
|
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
|
NM_001036.6(RYR3):c.7802A>G (p.Lys2601Arg)
|
rs754866375
|
0.00003
|
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
|
NM_001039591.3(USP9X):c.5875A>G (p.Ile1959Val)
|
rs748796919
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=)
|
rs760647603
|
0.00003
|
|
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
|
rs769840061
|
0.00003
|
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
|
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)
|
rs753189381
|
0.00003
|
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
|
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=)
|
rs864622298
|
0.00003
|
|
NM_001042492.3(NF1):c.696A>G (p.Thr232=)
|
rs368691517
|
0.00003
|
|
NM_001042492.3(NF1):c.8223G>C (p.Thr2741=)
|
rs777755159
|
0.00003
|
|
NM_001042492.3(NF1):c.8394C>T (p.Asn2798=)
|
rs376136174
|
0.00003
|
|
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=)
|
rs143289497
|
0.00003
|
|
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
|
rs957203033
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His)
|
rs587780741
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)
|
rs587778540
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
|
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)
|
rs587780081
|
0.00003
|
|
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)
|
rs587782683
|
0.00003
|
|
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)
|
rs771641237
|
0.00003
|
|
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)
|
rs587780752
|
0.00003
|
|
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)
|
rs587778538
|
0.00003
|
|
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)
|
rs587782773
|
0.00003
|
|
NM_001077365.2(POMT1):c.1963C>T (p.Leu655Phe)
|
rs547373832
|
0.00003
|
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
|
NM_001083116.3(PRF1):c.112G>A (p.Val38Met)
|
rs201909472
|
0.00003
|
|
NM_001085049.3(MRAS):c.500C>G (p.Ala167Gly)
|
rs762347485
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly)
|
rs1384295949
|
0.00003
|
|
NM_001103.4(ACTN2):c.18C>T (p.Pro6=)
|
rs368367224
|
0.00003
|
|
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His)
|
rs546431200
|
0.00003
|
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
|
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr)
|
rs770368711
|
0.00003
|
|
NM_001103.4(ACTN2):c.645C>T (p.Ala215=)
|
rs781683654
|
0.00003
|
|
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)
|
rs772862268
|
0.00003
|
|
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu)
|
rs782406278
|
0.00003
|
|
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)
|
rs370202395
|
0.00003
|
|
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile)
|
rs782495669
|
0.00003
|
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
|
NM_001110556.2(FLNA):c.7333+11C>T
|
rs781878852
|
0.00003
|
|
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
|
rs369791082
|
0.00003
|
|
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)
|
rs782157170
|
0.00003
|
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
|
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys)
|
rs782314807
|
0.00003
|
|
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly)
|
rs587783138
|
0.00003
|
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)
|
rs1449945045
|
0.00003
|
|
NM_001114753.3(ENG):c.1323C>T (p.His441=)
|
rs751203937
|
0.00003
|
|
NM_001114753.3(ENG):c.690-5C>T
|
rs374628465
|
0.00003
|
|
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)
|
rs200395970
|
0.00003
|
|
NM_001126049.2(KLLN):c.-803T>A
|
rs587782616
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
|
NM_001127178.3(PIGG):c.956C>T (p.Ala319Val)
|
rs779032464
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=)
|
rs1246140836
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys)
|
rs994265107
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
0.00003
|
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
0.00003
|
|
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)
|
rs769739410
|
0.00003
|
|
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln)
|
rs149617331
|
0.00003
|
|
NM_001130987.2(DYSF):c.5085C>T (p.Asp1695=)
|
rs375326769
|
0.00003
|
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
|
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=)
|
rs1045844360
|
0.00003
|
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
|
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
|
rs397514532
|
0.00003
|
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
|
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)
|
rs928803207
|
0.00003
|
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
|
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu)
|
rs371300947
|
0.00003
|
|
NM_001145809.2(MYH14):c.488G>A (p.Arg163Gln)
|
rs558956312
|
0.00003
|
|
NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln)
|
rs780110299
|
0.00003
|
|
NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)
|
rs748573794
|
0.00003
|
|
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)
|
rs769091762
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp)
|
rs779077167
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
|
NM_001164508.2(NEB):c.19101+4C>T
|
rs778716460
|
0.00003
|
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
|
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)
|
rs149225252
|
0.00003
|
|
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)
|
rs72653794
|
0.00003
|
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
|
NM_001174089.2(SLC4A11):c.1282+1G>A
|
rs776659347
|
0.00003
|
|
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)
|
rs267607066
|
0.00003
|
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
|
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)
|
rs758972393
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
|
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)
|
rs556552435
|
0.00003
|
|
NM_001232.4(CASQ2):c.234+3A>G
|
rs727502909
|
0.00003
|
|
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)
|
rs373227317
|
0.00003
|
|
NM_001250.6(CD40):c.474C>T (p.Phe158=)
|
rs79661585
|
0.00003
|
|
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu)
|
rs370647845
|
0.00003
|
|
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg)
|
rs761644963
|
0.00003
|
|
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=)
|
rs397517790
|
0.00003
|
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
|
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala)
|
rs369870182
|
0.00003
|
|
NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)
|
rs753862749
|
0.00003
|
|
NM_001267550.2(TTN):c.14093-4G>A
|
rs373530196
|
0.00003
|
|
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)
|
rs756793304
|
0.00003
|
|
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr)
|
rs748155563
|
0.00003
|
|
NM_001267550.2(TTN):c.19715-1G>A
|
rs767658044
|
0.00003
|
|
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp)
|
rs375219301
|
0.00003
|
|
NM_001267550.2(TTN):c.23295A>C (p.Glu7765Asp)
|
rs774259283
|
0.00003
|
|
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg)
|
rs561059250
|
0.00003
|
|
NM_001267550.2(TTN):c.26380T>G (p.Leu8794Val)
|
rs372229450
|
0.00003
|
|
NM_001267550.2(TTN):c.26C>T (p.Thr9Met)
|
rs146123323
|
0.00003
|
|
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg)
|
rs372820178
|
0.00003
|
|
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile)
|
rs200207722
|
0.00003
|
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
|
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)
|
rs376287951
|
0.00003
|
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
|
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)
|
rs376117402
|
0.00003
|
|
NM_001267550.2(TTN):c.35357C>G (p.Pro11786Arg)
|
rs375057451
|
0.00003
|
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
|
NM_001267550.2(TTN):c.41098G>A (p.Val13700Ile)
|
rs748716483
|
0.00003
|
|
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)
|
rs746667196
|
0.00003
|
|
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=)
|
rs750270873
|
0.00003
|
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
|
NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys)
|
rs774736458
|
0.00003
|
|
NM_001267550.2(TTN):c.48461-18C>G
|
rs759697221
|
0.00003
|
|
NM_001267550.2(TTN):c.48781G>A (p.Asp16261Asn)
|
rs764203042
|
0.00003
|
|
NM_001267550.2(TTN):c.48853A>C (p.Lys16285Gln)
|
rs780017546
|
0.00003
|
|
NM_001267550.2(TTN):c.49235C>G (p.Ala16412Gly)
|
rs746659077
|
0.00003
|
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
|
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)
|
rs72677250
|
0.00003
|
|
NM_001267550.2(TTN):c.51739+20G>A
|
rs571361599
|
0.00003
|
|
NM_001267550.2(TTN):c.57826C>T (p.Leu19276Phe)
|
rs756493505
|
0.00003
|
|
NM_001267550.2(TTN):c.61447C>T (p.Arg20483Cys)
|
rs770139489
|
0.00003
|
|
NM_001267550.2(TTN):c.65276-16C>T
|
rs370634364
|
0.00003
|
|
NM_001267550.2(TTN):c.73213G>A (p.Glu24405Lys)
|
rs764485436
|
0.00003
|
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
|
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His)
|
rs749274818
|
0.00003
|
|
NM_001267550.2(TTN):c.77040G>A (p.Glu25680=)
|
rs988760489
|
0.00003
|
|
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly)
|
rs759278736
|
0.00003
|
|
NM_001267550.2(TTN):c.78315C>T (p.Ile26105=)
|
rs776432135
|
0.00003
|
|
NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val)
|
rs747894424
|
0.00003
|
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
|
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)
|
rs769162510
|
0.00003
|
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
|
NM_001267550.2(TTN):c.89796C>T (p.Asp29932=)
|
rs376478710
|
0.00003
|
|
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met)
|
rs756769026
|
0.00003
|
|
NM_001267550.2(TTN):c.91782T>C (p.Arg30594=)
|
rs374345957
|
0.00003
|
|
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)
|
rs727505175
|
0.00003
|
|
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)
|
rs727503543
|
0.00003
|
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
|
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)
|
rs745962752
|
0.00003
|
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
|
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr)
|
rs746586029
|
0.00003
|
|
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr)
|
rs199647622
|
0.00003
|
|
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr)
|
rs761362832
|
0.00003
|
|
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)
|
rs576759867
|
0.00003
|
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
|
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg)
|
rs1282824691
|
0.00003
|
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
|
NM_001291303.3(FAT4):c.10940A>G (p.Asp3647Gly)
|
rs780015426
|
0.00003
|
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
|
NM_001354604.2(MITF):c.1569G>A (p.Glu523=)
|
rs200830148
|
0.00003
|
|
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)
|
rs750345068
|
0.00003
|
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
|
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)
|
rs779401555
|
0.00003
|
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
|
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)
|
rs606231229
|
0.00003
|
|
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile)
|
rs200328637
|
0.00003
|
|
NM_001365951.3(KIF1B):c.2115+6213G>T
|
rs587777883
|
0.00003
|
|
NM_001365999.1(SZT2):c.3466G>A (p.Gly1156Arg)
|
rs370691670
|
0.00003
|
|
NM_001365999.1(SZT2):c.4166+4A>G
|
rs184298720
|
0.00003
|
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
|
NM_001370658.1(BTD):c.1456C>T (p.Leu486=)
|
rs774018881
|
0.00003
|
|
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
|
rs1050035768
|
0.00003
|
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)
|
rs758727391
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)
|
rs755441612
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)
|
rs371214841
|
0.00003
|
|
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala)
|
rs959566693
|
0.00003
|
|
NM_001378452.1(ITPR1):c.7272+15T>A
|
rs777868994
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)
|
rs754439156
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)
|
rs1356972872
|
0.00003
|
|
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro)
|
rs201451396
|
0.00003
|
|
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)
|
rs763680884
|
0.00003
|
|
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser)
|
rs771800459
|
0.00003
|
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
|
NM_001378964.1(CDON):c.1741A>G (p.Ile581Val)
|
rs141782811
|
0.00003
|
|
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu)
|
rs1464455403
|
0.00003
|
|
NM_001379500.1(COL18A1):c.1221+12C>T
|
rs765348415
|
0.00003
|
|
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln)
|
rs1457484217
|
0.00003
|
|
NM_001384140.1(PCDH15):c.2799G>C (p.Gly933=)
|
rs139853291
|
0.00003
|
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)
|
rs369043488
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys)
|
rs1364819556
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)
|
rs139464953
|
0.00003
|
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
|
NM_001386795.1(DTNA):c.68-7G>A
|
rs372126412
|
0.00003
|
|
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu)
|
rs200622119
|
0.00003
|
|
NM_001458.5(FLNC):c.2673G>A (p.Thr891=)
|
rs761823234
|
0.00003
|
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
|
NM_001556.3(IKBKB):c.2114+3A>G
|
rs56329631
|
0.00003
|
|
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=)
|
rs747205071
|
0.00003
|
|
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)
|
rs141933412
|
0.00003
|
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
|
NM_001625.4(AK2):c.498+1G>A
|
rs777503956
|
0.00003
|
|
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)
|
rs267606645
|
0.00003
|
|
NM_001673.5(ASNS):c.1570C>T (p.Arg524Cys)
|
rs373078034
|
0.00003
|
|
NM_001848.3(COL6A1):c.665G>A (p.Arg222His)
|
rs780638665
|
0.00003
|
|
NM_001927.4(DES):c.-6G>A
|
rs774967446
|
0.00003
|
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
0.00003
|
|
NM_002047.4(GARS1):c.52C>A (p.Leu18Met)
|
rs368574634
|
0.00003
|
|
NM_002109.6(HARS1):c.797G>A (p.Arg266His)
|
rs765223763
|
0.00003
|
|
NM_002156.5(HSPD1):c.385G>A (p.Glu129Lys)
|
rs139436185
|
0.00003
|
|
NM_002185.5(IL7R):c.706+3A>G
|
rs200036151
|
0.00003
|
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
|
NM_002230.4(JUP):c.1996G>A (p.Val666Met)
|
rs372369061
|
0.00003
|
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
|
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)
|
rs121909721
|
0.00003
|
|
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg)
|
rs772216708
|
0.00003
|
|
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser)
|
rs753891816
|
0.00003
|
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
|
NM_002471.4(MYH6):c.4464C>T (p.Asn1488=)
|
rs376781285
|
0.00003
|
|
NM_002474.3(MYH11):c.2237C>G (p.Ala746Gly)
|
rs778651094
|
0.00003
|
|
NM_002474.3(MYH11):c.2442C>T (p.Thr814=)
|
rs759602174
|
0.00003
|
|
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys)
|
rs201387564
|
0.00003
|
|
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)
|
rs557463209
|
0.00003
|
|
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=)
|
rs150860193
|
0.00003
|
|
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser)
|
rs79129097
|
0.00003
|
|
NM_002485.5(NBN):c.1419A>G (p.Gln473=)
|
rs587780535
|
0.00003
|
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
|
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)
|
rs767523514
|
0.00003
|
|
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)
|
rs545276922
|
0.00003
|
|
NM_002485.5(NBN):c.547G>A (p.Ala183Thr)
|
rs151070415
|
0.00003
|
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
|
NM_002529.4(NTRK1):c.1354+1G>T
|
rs764771898
|
0.00003
|
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
|
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)
|
rs781551165
|
0.00003
|
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
|
NM_002691.4(POLD1):c.841-10A>G
|
rs140160345
|
0.00003
|
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
|
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)
|
rs551811489
|
0.00003
|
|
NM_002693.3(POLG):c.3383G>A (p.Arg1128His)
|
rs1405268319
|
0.00003
|
|
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr)
|
rs369210646
|
0.00003
|
|
NM_002734.5(PRKAR1A):c.378C>T (p.Ala126=)
|
rs199974368
|
0.00003
|
|
NM_002734.5(PRKAR1A):c.477C>T (p.Ile159=)
|
rs372389205
|
0.00003
|
|
NM_002734.5(PRKAR1A):c.522C>T (p.Phe174=)
|
rs148109898
|
0.00003
|
|
NM_002734.5(PRKAR1A):c.756A>C (p.Lys252Asn)
|
rs1242606073
|
0.00003
|
|
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg)
|
rs773890369
|
0.00003
|
|
NM_002769.5(PRSS1):c.200+10G>T
|
rs200217253
|
0.00003
|
|
NM_002769.5(PRSS1):c.200+18G>A
|
rs778658500
|
0.00003
|
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
|
NM_002778.4(PSAP):c.679_681del (p.Lys227del)
|
rs1431844269
|
0.00003
|
|
NM_002834.5(PTPN11):c.1379+6A>G
|
rs746958309
|
0.00003
|
|
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro)
|
rs1057517907
|
0.00003
|
|
NM_002834.5(PTPN11):c.540C>T (p.Asp180=)
|
rs753269427
|
0.00003
|
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
|
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)
|
rs397507528
|
0.00003
|
|
NM_002878.4(RAD51D):c.208G>A (p.Asp70Asn)
|
rs142189122
|
0.00003
|
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
|
NM_002878.4(RAD51D):c.53A>G (p.Gln18Arg)
|
rs546225564
|
0.00003
|
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
|
NM_002878.4(RAD51D):c.5G>C (p.Gly2Ala)
|
rs763716638
|
0.00003
|
|
NM_002878.4(RAD51D):c.765G>A (p.Arg255=)
|
rs751833940
|
0.00003
|
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
|
NM_002878.4(RAD51D):c.879G>A (p.Ala293=)
|
rs368209468
|
0.00003
|
|
NM_002878.4(RAD51D):c.911G>A (p.Gly304Asp)
|
rs200615280
|
0.00003
|
|
NM_002880.4(RAF1):c.1109-17G>C
|
rs770431112
|
0.00003
|
|
NM_002880.4(RAF1):c.1821G>A (p.Glu607=)
|
rs747437834
|
0.00003
|
|
NM_002880.4(RAF1):c.1921A>G (p.Thr641Ala)
|
rs1183812590
|
0.00003
|
|
NM_002880.4(RAF1):c.600T>C (p.Thr200=)
|
rs779808613
|
0.00003
|
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1559C>T (p.Thr520Met)
|
rs372892801
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=)
|
rs145387062
|
0.00003
|
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
|
NM_003098.3(SNTA1):c.114C>T (p.Asp38=)
|
rs780018849
|
0.00003
|
|
NM_003239.5(TGFB3):c.797G>A (p.Arg266His)
|
rs142069844
|
0.00003
|
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
|
NM_003242.6(TGFBR2):c.81C>T (p.His27=)
|
rs1057520957
|
0.00003
|
|
NM_003383.5(VLDLR):c.2429T>C (p.Met810Thr)
|
rs561039600
|
0.00003
|
|
NM_003476.5(CSRP3):c.327A>G (p.Lys109=)
|
rs778512127
|
0.00003
|
|
NM_003480.4(MFAP5):c.340C>T (p.Arg114Ter)
|
rs376830567
|
0.00003
|
|
NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter)
|
rs373493102
|
0.00003
|
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
|
NM_003640.5(ELP1):c.2748A>G (p.Glu916=)
|
rs200551647
|
0.00003
|
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
|
NM_003659.4(AGPS):c.1855+6C>A
|
rs772552134
|
0.00003
|
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
|
NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)
|
rs113994063
|
0.00003
|
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
|
NM_004004.6(GJB2):c.488T>C (p.Met163Thr)
|
rs1273330603
|
0.00003
|
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
|
NM_004006.3(DMD):c.3114G>A (p.Glu1038=)
|
rs143810752
|
0.00003
|
|
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr)
|
rs777274879
|
0.00003
|
|
NM_004092.4(ECHS1):c.8C>T (p.Ala3Val)
|
rs372408822
|
0.00003
|
|
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly)
|
rs748654006
|
0.00003
|
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
|
NM_004260.4(RECQL4):c.962G>A (p.Gly321Glu)
|
rs1220650736
|
0.00003
|
|
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser)
|
rs376832654
|
0.00003
|
|
NM_004329.3(BMPR1A):c.117C>T (p.Ser39=)
|
rs757333646
|
0.00003
|
|
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu)
|
rs567733221
|
0.00003
|
|
NM_004333.6(BRAF):c.1068A>G (p.Gln356=)
|
rs143335467
|
0.00003
|
|
NM_004333.6(BRAF):c.1694+14G>A
|
rs184144181
|
0.00003
|
|
NM_004333.6(BRAF):c.2136C>T (p.Ala712=)
|
rs377165711
|
0.00003
|
|
NM_004333.6(BRAF):c.608+18C>T
|
rs764984248
|
0.00003
|
|
NM_004333.6(BRAF):c.622A>G (p.Ile208Val)
|
rs727504571
|
0.00003
|
|
NM_004333.6(BRAF):c.708C>T (p.Asn236=)
|
rs138333692
|
0.00003
|
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
|
NM_004360.5(CDH1):c.1318A>G (p.Lys440Glu)
|
rs778212100
|
0.00003
|
|
NM_004360.5(CDH1):c.1371G>A (p.Thr457=)
|
rs370368644
|
0.00003
|
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
|
NM_004360.5(CDH1):c.1689C>T (p.Ala563=)
|
rs587780786
|
0.00003
|
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
0.00003
|
|
NM_004360.5(CDH1):c.2331C>T (p.Asp777=)
|
rs114265540
|
0.00003
|
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
|
NM_004360.5(CDH1):c.688-4T>C
|
rs781633588
|
0.00003
|
|
NM_004360.5(CDH1):c.753G>A (p.Thr251=)
|
rs371996897
|
0.00003
|
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
|
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)
|
rs763852812
|
0.00003
|
|
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)
|
rs369025518
|
0.00003
|
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
|
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu)
|
rs752947878
|
0.00003
|
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
|
NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr)
|
rs530506549
|
0.00003
|
|
NM_004526.4(MCM2):c.1836G>A (p.Ser612=)
|
rs753889372
|
0.00003
|
|
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp)
|
rs863224110
|
0.00003
|
|
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=)
|
rs139090459
|
0.00003
|
|
NM_004614.5(TK2):c.124+6G>C
|
rs772063515
|
0.00003
|
|
NM_004614.5(TK2):c.156+2T>C
|
rs281865499
|
0.00003
|
|
NM_004628.5(XPC):c.622-2A>C
|
rs201940931
|
0.00003
|
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
|
NM_004646.4(NPHS1):c.3481+1G>T
|
rs142883811
|
0.00003
|
|
NM_004655.4(AXIN2):c.1665C>T (p.Cys555=)
|
rs562421443
|
0.00003
|
|
NM_004655.4(AXIN2):c.2021C>T (p.Pro674Leu)
|
rs1341498392
|
0.00003
|
|
NM_004985.5(KRAS):c.451-5622G>A
|
rs755877953
|
0.00003
|
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220
|
0.00003
|
|
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile)
|
rs200007424
|
0.00003
|
|
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln)
|
rs774277969
|
0.00003
|
|
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr)
|
rs978248682
|
0.00003
|
|
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro)
|
rs138294250
|
0.00003
|
|
NM_005159.5(ACTC1):c.300C>T (p.Pro100=)
|
rs141322728
|
0.00003
|
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
|
NM_005188.4(CBL):c.1920G>A (p.Thr640=)
|
rs202158626
|
0.00003
|
|
NM_005188.4(CBL):c.516A>G (p.Gly172=)
|
rs765968487
|
0.00003
|
|
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)
|
rs111385795
|
0.00003
|
|
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp)
|
rs397514493
|
0.00003
|
|
NM_005343.4(HRAS):c.54G>A (p.Ala18=)
|
rs148380285
|
0.00003
|
|
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=)
|
rs769607309
|
0.00003
|
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
|
NM_005359.6(SMAD4):c.956-3T>C
|
rs748283001
|
0.00003
|
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
|
NM_005502.4(ABCA1):c.302+17G>T
|
rs367919230
|
0.00003
|
|
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly)
|
rs142877738
|
0.00003
|
|
NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg)
|
rs752051518
|
0.00003
|
|
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg)
|
rs775987152
|
0.00003
|
|
NM_005534.4(IFNGR2):c.436A>G (p.Ile146Val)
|
rs776581325
|
0.00003
|
|
NM_005591.4(MRE11):c.476T>C (p.Val159Ala)
|
rs140130291
|
0.00003
|
|
NM_005591.4(MRE11):c.534A>G (p.Leu178=)
|
rs374635285
|
0.00003
|
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
|
NM_005633.4(SOS1):c.141T>C (p.Tyr47=)
|
rs201649682
|
0.00003
|
|
NM_005633.4(SOS1):c.162A>G (p.Gln54=)
|
rs763520126
|
0.00003
|
|
NM_005633.4(SOS1):c.3867G>A (p.Gly1289=)
|
rs767844484
|
0.00003
|
|
NM_005633.4(SOS1):c.510+9C>G
|
rs553448375
|
0.00003
|
|
NM_005664.4(MKRN3):c.1034G>A (p.Arg345His)
|
rs375705600
|
0.00003
|
|
NM_005732.4(RAD50):c.*8C>T
|
rs374990431
|
0.00003
|
|
NM_005732.4(RAD50):c.1970-7A>C
|
rs370034340
|
0.00003
|
|
NM_005732.4(RAD50):c.2718+10T>G
|
rs765764447
|
0.00003
|
|
NM_005732.4(RAD50):c.3507C>T (p.Ala1169=)
|
rs144557787
|
0.00003
|
|
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg)
|
rs201728859
|
0.00003
|
|
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=)
|
rs141094356
|
0.00003
|
|
NM_005751.5(AKAP9):c.6330+19T>C
|
rs376744370
|
0.00003
|
|
NM_005751.5(AKAP9):c.7980A>C (p.Lys2660Asn)
|
rs371461279
|
0.00003
|
|
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His)
|
rs184634552
|
0.00003
|
|
NM_005901.6(SMAD2):c.784+7T>A
|
rs1429670443
|
0.00003
|
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
|
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu)
|
rs772510704
|
0.00003
|
|
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu)
|
rs375002796
|
0.00003
|
|
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)
|
rs776483190
|
0.00003
|
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
|
NM_006019.4(TCIRG1):c.1554+2T>A
|
rs761918801
|
0.00003
|
|
NM_006231.4(POLE):c.1596C>T (p.His532=)
|
rs114978673
|
0.00003
|
|
NM_006231.4(POLE):c.4091G>A (p.Arg1364His)
|
rs369171111
|
0.00003
|
|
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln)
|
rs535074635
|
0.00003
|
|
NM_006231.4(POLE):c.4269C>T (p.Ile1423=)
|
rs761413102
|
0.00003
|
|
NM_006231.4(POLE):c.5313G>A (p.Thr1771=)
|
rs201803493
|
0.00003
|
|
NM_006231.4(POLE):c.5609G>A (p.Arg1870His)
|
rs758619238
|
0.00003
|
|
NM_006261.5(PROP1):c.550G>C (p.Ala184Pro)
|
rs746409513
|
0.00003
|
|
NM_006270.5(RRAS):c.573-4A>C
|
rs901398553
|
0.00003
|
|
NM_006308.3(HSPB3):c.437C>T (p.Pro146Leu)
|
rs376650697
|
0.00003
|
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
|
NM_006502.3(POLH):c.1078dup (p.Asp360fs)
|
rs1277794845
|
0.00003
|
|
NM_006502.3(POLH):c.2009A>G (p.Asn670Ser)
|
rs377690160
|
0.00003
|
|
NM_006506.5(RASA2):c.1314C>T (p.Ile438=)
|
rs751326898
|
0.00003
|
|
NM_006662.3(SRCAP):c.391C>G (p.Pro131Ala)
|
rs148079550
|
0.00003
|
|
NM_006662.3(SRCAP):c.7523C>T (p.Pro2508Leu)
|
rs201916514
|
0.00003
|
|
NM_006767.4(LZTR1):c.138G>A (p.Gly46=)
|
rs977844214
|
0.00003
|
|
NM_006767.4(LZTR1):c.1591G>A (p.Asp531Asn)
|
rs138615487
|
0.00003
|
|
NM_006767.4(LZTR1):c.27G>A (p.Gly9=)
|
rs750714248
|
0.00003
|
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
|
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile)
|
rs376331457
|
0.00003
|
|
NM_006790.3(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
0.00003
|
|
NM_006796.3(AFG3L2):c.292+2T>C
|
rs779805236
|
0.00003
|
|
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
|
rs763208084
|
0.00003
|
|
NM_006915.3(RP2):c.49C>T (p.Pro17Ser)
|
rs782103396
|
0.00003
|
|
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter)
|
rs759511516
|
0.00003
|
|
NM_006939.4(SOS2):c.-4G>A
|
rs777488196
|
0.00003
|
|
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=)
|
rs753698896
|
0.00003
|
|
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn)
|
rs146283711
|
0.00003
|
|
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr)
|
rs756637706
|
0.00003
|
|
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr)
|
rs764483791
|
0.00003
|
|
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys)
|
rs1005498417
|
0.00003
|
|
NM_006946.4(SPTBN2):c.6378C>T (p.Thr2126=)
|
rs770472919
|
0.00003
|
|
NM_006949.4(STXBP2):c.1026+3G>A
|
rs759183489
|
0.00003
|
|
NM_007078.3(LDB3):c.900C>A (p.Thr300=)
|
rs760071118
|
0.00003
|
|
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr)
|
rs777489502
|
0.00003
|
|
NM_007103.4(NDUFV1):c.331A>G (p.Lys111Glu)
|
rs369089940
|
0.00003
|
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
|
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=)
|
rs761278013
|
0.00003
|
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
|
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=)
|
rs781593101
|
0.00003
|
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
|
NM_007194.4(CHEK2):c.651A>G (p.Arg217=)
|
rs774245273
|
0.00003
|
|
NM_007194.4(CHEK2):c.6T>C (p.Ser2=)
|
rs768632104
|
0.00003
|
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
|
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg)
|
rs373655067
|
0.00003
|
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
|
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly)
|
rs80357194
|
0.00003
|
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
|
NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)
|
rs786202215
|
0.00003
|
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
|
NM_007294.4(BRCA1):c.2758G>T (p.Val920Leu)
|
rs80357361
|
0.00003
|
|
NM_007294.4(BRCA1):c.2862A>G (p.Leu954=)
|
rs559190752
|
0.00003
|
|
NM_007294.4(BRCA1):c.3063T>C (p.Ser1021=)
|
rs1364539273
|
0.00003
|
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
|
NM_007294.4(BRCA1):c.3747C>T (p.Thr1249=)
|
rs587780801
|
0.00003
|
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
|
NM_007294.4(BRCA1):c.4185+10G>C
|
rs80358104
|
0.00003
|
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
|
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg)
|
rs28897674
|
0.00003
|
|
NM_007294.4(BRCA1):c.4771G>A (p.Gly1591Ser)
|
rs587782825
|
0.00003
|
|
NM_007294.4(BRCA1):c.5075-6C>A
|
rs397507240
|
0.00003
|
|
NM_007294.4(BRCA1):c.507G>A (p.Gln169=)
|
rs759882045
|
0.00003
|
|
NM_007294.4(BRCA1):c.5152+15A>G
|
rs750905289
|
0.00003
|
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
|
NM_007373.4(SHOC2):c.886C>T (p.Leu296=)
|
rs199723694
|
0.00003
|
|
NM_012452.3(TNFRSF13B):c.61+67del
|
rs1423111679
|
0.00003
|
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
|
NM_013975.4(LIG3):c.1208+3G>T
|
rs375260860
|
0.00003
|
|
NM_013975.4(LIG3):c.3008G>A (p.Arg1003Gln)
|
rs140462567
|
0.00003
|
|
NM_014000.3(VCL):c.225A>G (p.Pro75=)
|
rs759937112
|
0.00003
|
|
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)
|
rs904572688
|
0.00003
|
|
NM_014026.6(DCPS):c.865G>A (p.Gly289Ser)
|
rs188923397
|
0.00003
|
|
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln)
|
rs781156571
|
0.00003
|
|
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)
|
rs1057523761
|
0.00003
|
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.3798C>T (p.Gly1266=)
|
rs1483110052
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.3950A>G (p.Asn1317Ser)
|
rs148611916
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser)
|
rs370517200
|
0.00003
|
|
NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)
|
rs768564000
|
0.00003
|
|
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)
|
rs397514648
|
0.00003
|
|
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)
|
rs104894492
|
0.00003
|
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
|
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys)
|
rs200899521
|
0.00003
|
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
|
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)
|
rs778055996
|
0.00003
|
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
|
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln)
|
rs751767084
|
0.00003
|
|
NM_014625.4(NPHS2):c.948del (p.Ala317fs)
|
rs775170915
|
0.00003
|
|
NM_014797.3(ZBTB24):c.1235A>G (p.His412Arg)
|
rs548726702
|
0.00003
|
|
NM_014797.3(ZBTB24):c.464A>G (p.Asn155Ser)
|
rs764146606
|
0.00003
|
|
NM_014844.5(TECPR2):c.3868G>A (p.Val1290Met)
|
rs759184941
|
0.00003
|
|
NM_014875.3(KIF14):c.3661+1G>T
|
rs151249558
|
0.00003
|
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
|
NM_015046.7(SETX):c.503G>A (p.Arg168Gln)
|
rs772017103
|
0.00003
|
|
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)
|
rs1057519563
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
|
NM_015627.3(LDLRAP1):c.390A>G (p.Ala130=)
|
rs375688706
|
0.00003
|
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
|
NM_015702.3(MMADHC):c.757G>A (p.Gly253Arg)
|
rs766533747
|
0.00003
|
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
|
NM_016343.4(CENPF):c.4892C>T (p.Thr1631Met)
|
rs769388025
|
0.00003
|
|
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met)
|
rs370482859
|
0.00003
|
|
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)
|
rs773969315
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4911C>T (p.Gly1637=)
|
rs953232466
|
0.00003
|
|
NM_017635.5(KMT5B):c.1922C>T (p.Ala641Val)
|
rs575248505
|
0.00003
|
|
NM_017721.5(CC2D1A):c.380C>T (p.Pro127Leu)
|
rs750108401
|
0.00003
|
|
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=)
|
rs375459176
|
0.00003
|
|
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs)
|
rs796052056
|
0.00003
|
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)
|
rs200355418
|
0.00003
|
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
|
NM_019616.4(F7):c.656C>A (p.Thr219Asn)
|
rs1160146175
|
0.00003
|
|
NM_019616.4(F7):c.961G>A (p.Gly321Ser)
|
rs1250853566
|
0.00003
|
|
NM_020117.11(LARS1):c.1183G>A (p.Asp395Asn)
|
rs762386770
|
0.00003
|
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
|
NM_020207.7(ERCC6L2):c.3107A>G (p.Gln1036Arg)
|
rs376412922
|
0.00003
|
|
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser)
|
rs145455570
|
0.00003
|
|
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=)
|
rs2287626
|
0.00003
|
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
|
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)
|
rs147914967
|
0.00003
|
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00003
|
|
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe)
|
rs769083534
|
0.00003
|
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
|
NM_021008.4(DEAF1):c.1348C>T (p.Pro450Ser)
|
rs374222357
|
0.00003
|
|
NM_021625.5(TRPV4):c.1104C>T (p.Asn368=)
|
rs768593770
|
0.00003
|
|
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln)
|
rs141315771
|
0.00003
|
|
NM_021830.5(TWNK):c.1925A>G (p.Lys642Arg)
|
rs748463127
|
0.00003
|
|
NM_021939.4(FKBP10):c.476G>A (p.Ser159Asn)
|
rs1157950850
|
0.00003
|
|
NM_021999.5(ITM2B):c.55G>A (p.Glu19Lys)
|
rs772385941
|
0.00003
|
|
NM_022114.4(PRDM16):c.2056A>G (p.Thr686Ala)
|
rs575376153
|
0.00003
|
|
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp)
|
rs756442796
|
0.00003
|
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
|
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile)
|
rs748152139
|
0.00003
|
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
|
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)
|
rs188966938
|
0.00003
|
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
|
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)
|
rs771006240
|
0.00003
|
|
NM_024105.4(ALG12):c.671C>T (p.Thr224Met)
|
rs755892540
|
0.00003
|
|
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)
|
rs755588907
|
0.00003
|
|
NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)
|
rs1268722908
|
0.00003
|
|
NM_024312.5(GNPTAB):c.3335+1G>A
|
rs34940801
|
0.00003
|
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
|
NM_024334.3(TMEM43):c.684C>T (p.Ser228=)
|
rs371019231
|
0.00003
|
|
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu)
|
rs533275736
|
0.00003
|
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
|
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)
|
rs201996575
|
0.00003
|
|
NM_024411.5(PDYN):c.-19-1G>C
|
rs769835663
|
0.00003
|
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024675.4(PALB2):c.108+12G>A
|
rs558824045
|
0.00003
|
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
|
NM_024675.4(PALB2):c.1405T>C (p.Cys469Arg)
|
rs1060502789
|
0.00003
|
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
|
NM_024675.4(PALB2):c.1647C>A (p.His549Gln)
|
rs747842085
|
0.00003
|
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
|
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)
|
rs779184831
|
0.00003
|
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
|
NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys)
|
rs267604470
|
0.00003
|
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
|
NM_024675.4(PALB2):c.226A>G (p.Ile76Val)
|
rs541028076
|
0.00003
|
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
|
NM_024675.4(PALB2):c.2997-9T>C
|
rs765733708
|
0.00003
|
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_025000.4(DCAF17):c.1468A>G (p.Ile490Val)
|
rs140422102
|
0.00003
|
|
NM_025074.7(FRAS1):c.7768C>T (p.Arg2590Cys)
|
rs368735572
|
0.00003
|
|
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)
|
rs374877315
|
0.00003
|
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
|
NM_025137.4(SPG11):c.3292-1G>T
|
rs201217015
|
0.00003
|
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
|
NM_025265.4(TSEN2):c.241T>G (p.Ser81Ala)
|
rs774798241
|
0.00003
|
|
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)
|
rs374807671
|
0.00003
|
|
NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)
|
rs529064753
|
0.00003
|
|
NM_030662.4(MAP2K2):c.1182A>G (p.Thr394=)
|
rs375253105
|
0.00003
|
|
NM_030662.4(MAP2K2):c.477G>A (p.Leu159=)
|
rs748135585
|
0.00003
|
|
NM_030662.4(MAP2K2):c.534C>G (p.Leu178=)
|
rs765573431
|
0.00003
|
|
NM_030662.4(MAP2K2):c.581-5T>C
|
rs757662989
|
0.00003
|
|
NM_030662.4(MAP2K2):c.581-9C>T
|
rs539611844
|
0.00003
|
|
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg)
|
rs539555837
|
0.00003
|
|
NM_030777.4(SLC2A10):c.306C>T (p.Val102=)
|
rs530216827
|
0.00003
|
|
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)
|
rs373375540
|
0.00003
|
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+8G>C
|
rs772953115
|
0.00003
|
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
|
NM_032043.3(BRIP1):c.672A>G (p.Gly224=)
|
rs752356873
|
0.00003
|
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
|
NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His)
|
rs201299038
|
0.00003
|
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
rs547076322
|
0.00003
|
|
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
|
rs200079039
|
0.00003
|
|
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys)
|
rs201422743
|
0.00003
|
|
NM_032444.4(SLX4):c.485C>T (p.Thr162Met)
|
rs140876043
|
0.00003
|
|
NM_032578.4(MYPN):c.1013G>A (p.Arg338His)
|
rs149852773
|
0.00003
|
|
NM_032588.4(TRIM63):c.390C>G (p.Ile130Met)
|
rs377334933
|
0.00003
|
|
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His)
|
rs372054380
|
0.00003
|
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
|
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly)
|
rs754402677
|
0.00003
|
|
NM_033109.5(PNPT1):c.2014-19G>C
|
rs745401550
|
0.00003
|
|
NM_033109.5(PNPT1):c.419C>T (p.Pro140Leu)
|
rs572684828
|
0.00003
|
|
NM_033337.3(CAV3):c.305C>T (p.Ala102Val)
|
rs868638613
|
0.00003
|
|
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)
|
rs2067110688
|
0.00003
|
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00003
|
|
NM_033629.6(TREX1):c.290G>A (p.Arg97His)
|
rs200773268
|
0.00003
|
|
NM_033641.4(COL4A6):c.2656G>A (p.Ala886Thr)
|
rs138246637
|
0.00003
|
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
|
NM_052859.4(RFT1):c.200G>A (p.Arg67His)
|
rs753527390
|
0.00003
|
|
NM_052876.4(NACC1):c.1556C>T (p.Ala519Val)
|
rs781523419
|
0.00003
|
|
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp)
|
rs776636237
|
0.00003
|
|
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys)
|
rs547322504
|
0.00003
|
|
NM_053025.4(MYLK):c.344G>A (p.Arg115His)
|
rs141131535
|
0.00003
|
|
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=)
|
rs149002594
|
0.00003
|
|
NM_053025.4(MYLK):c.4838-3C>T
|
rs776825316
|
0.00003
|
|
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His)
|
rs140636141
|
0.00003
|
|
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp)
|
rs372482276
|
0.00003
|
|
NM_053025.4(MYLK):c.754+16C>T
|
rs377397996
|
0.00003
|
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
|
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys)
|
rs370695114
|
0.00003
|
|
NM_054012.4(ASS1):c.570C>T (p.Tyr190=)
|
rs758481857
|
0.00003
|
|
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)
|
rs777828000
|
0.00003
|
|
NM_054012.4(ASS1):c.786C>T (p.Gly262=)
|
rs536799104
|
0.00003
|
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
|
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)
|
rs746026526
|
0.00003
|
|
NM_080669.6(SLC46A1):c.1082-1G>A
|
rs80338775
|
0.00003
|
|
NM_080680.3(COL11A2):c.2214+19G>A
|
rs370515541
|
0.00003
|
|
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)
|
rs773329088
|
0.00003
|
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
|
NM_133259.4(LRPPRC):c.124G>A (p.Ala42Thr)
|
rs752575254
|
0.00003
|
|
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)
|
rs745582203
|
0.00003
|
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
|
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)
|
rs777828182
|
0.00003
|
|
NM_138413.4(HOGA1):c.953G>A (p.Arg318His)
|
rs201347931
|
0.00003
|
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
|
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu)
|
rs374447352
|
0.00003
|
|
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met)
|
rs201087689
|
0.00003
|
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
|
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln)
|
rs117943654
|
0.00003
|
|
NM_139076.3(ABRAXAS1):c.315T>C (p.His105=)
|
rs375331034
|
0.00003
|
|
NM_139076.3(ABRAXAS1):c.533G>T (p.Gly178Val)
|
rs773434048
|
0.00003
|
|
NM_139076.3(ABRAXAS1):c.64C>T (p.His22Tyr)
|
rs756786001
|
0.00003
|
|
NM_139076.3(ABRAXAS1):c.890G>T (p.Cys297Phe)
|
rs377162113
|
0.00003
|
|
NM_139276.3(STAT3):c.1049+9T>G
|
rs374408588
|
0.00003
|
|
NM_139276.3(STAT3):c.1465-16G>A
|
rs189319171
|
0.00003
|
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
0.00003
|
|
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln)
|
rs764536586
|
0.00003
|
|
NM_144670.6(A2ML1):c.1833+10T>C
|
rs753086817
|
0.00003
|
|
NM_144670.6(A2ML1):c.21A>G (p.Leu7=)
|
rs529431349
|
0.00003
|
|
NM_144670.6(A2ML1):c.2658G>A (p.Gly886=)
|
rs762588799
|
0.00003
|
|
NM_144670.6(A2ML1):c.3339+20G>A
|
rs758617412
|
0.00003
|
|
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser)
|
rs372562512
|
0.00003
|
|
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=)
|
rs773681065
|
0.00003
|
|
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg)
|
rs1253780933
|
0.00003
|
|
NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)
|
rs149396342
|
0.00003
|
|
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg)
|
rs74315417
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
|
rs775078211
|
0.00003
|
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
|
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
|
rs28940314
|
0.00003
|
|
NM_152443.3(RDH12):c.698T>A (p.Val233Asp)
|
rs144148976
|
0.00003
|
|
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe)
|
rs779058019
|
0.00003
|
|
NM_152594.3(SPRED1):c.306G>A (p.Thr102=)
|
rs372791883
|
0.00003
|
|
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=)
|
rs764234046
|
0.00003
|
|
NM_152594.3(SPRED1):c.583-9G>T
|
rs1421813002
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
|
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
|
NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met)
|
rs373367600
|
0.00003
|
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
|
NM_170707.4(LMNA):c.885G>A (p.Ser295=)
|
rs776999079
|
0.00003
|
|
NM_172107.4(KCNQ2):c.2260G>A (p.Ala754Thr)
|
rs773822234
|
0.00003
|
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
|
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)
|
rs144389160
|
0.00003
|
|
NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu)
|
rs988303758
|
0.00003
|
|
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr)
|
rs572278771
|
0.00003
|
|
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln)
|
rs371408752
|
0.00003
|
|
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)
|
rs199754807
|
0.00003
|
|
NM_174934.4(SCN4B):c.372C>T (p.Ser124=)
|
rs1208629284
|
0.00003
|
|
NM_174934.4(SCN4B):c.464-12C>T
|
rs375056921
|
0.00003
|
|
NM_174936.4(PCSK9):c.1548G>A (p.Gly516=)
|
rs557227031
|
0.00003
|
|
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=)
|
rs1316935112
|
0.00003
|
|
NM_174936.4(PCSK9):c.228C>T (p.Gly76=)
|
rs376554821
|
0.00003
|
|
NM_174936.4(PCSK9):c.278G>A (p.Arg93His)
|
rs763855534
|
0.00003
|
|
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile)
|
rs201789841
|
0.00003
|
|
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg)
|
rs193922469
|
0.00003
|
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
|
NM_175914.5(HNF4A):c.924G>T (p.Ser308=)
|
rs140146223
|
0.00003
|
|
NM_181303.2(NLGN3):c.26C>T (p.Ser9Leu)
|
rs777601149
|
0.00003
|
|
NM_181332.3(NLGN4X):c.1144G>A (p.Gly382Ser)
|
rs760969834
|
0.00003
|
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
|
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys)
|
rs748757670
|
0.00003
|
|
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter)
|
rs145208539
|
0.00003
|
|
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)
|
rs121908901
|
0.00003
|
|
NM_198252.3(GSN):c.753+1G>A
|
rs369830648
|
0.00003
|
|
NM_198525.3(KIF7):c.2760G>A (p.Glu920=)
|
rs777277054
|
0.00003
|
|
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys)
|
rs33939927
|
0.00003
|
|
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met)
|
rs201146973
|
0.00003
|
|
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln)
|
rs369570610
|
0.00003
|
|
NM_201548.5(CERKL):c.1159+3G>A
|
rs373597465
|
0.00003
|
|
NM_203447.4(DOCK8):c.3454G>A (p.Glu1152Lys)
|
rs1438287343
|
0.00003
|
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
|
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr)
|
rs201176444
|
0.00003
|
|
NR_003051.3(RMRP):n.-14_-2dup13
|
rs1554651400
|
0.00003
|
|
NR_003051.3(RMRP):n.-20_1dup
|
rs1563907710
|
0.00003
|
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
|
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)
|
rs398123074
|
0.00002
|
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
0.00002
|
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
|
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)
|
rs1189763523
|
0.00002
|
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
|
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)
|
rs794727893
|
0.00002
|
|
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)
|
rs755806238
|
0.00002
|
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
|
NM_000038.6(APC):c.1272G>A (p.Gln424=)
|
rs778975532
|
0.00002
|
|
NM_000038.6(APC):c.1554G>A (p.Thr518=)
|
rs546568052
|
0.00002
|
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
|
NM_000038.6(APC):c.2222A>G (p.Asn741Ser)
|
rs150209825
|
0.00002
|
|
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
|
NM_000038.6(APC):c.2764C>T (p.Leu922Phe)
|
rs150543576
|
0.00002
|
|
NM_000038.6(APC):c.2780C>G (p.Ala927Gly)
|
rs587781500
|
0.00002
|
|
NM_000038.6(APC):c.284C>T (p.Ser95Phe)
|
rs146221748
|
0.00002
|
|
NM_000038.6(APC):c.288T>C (p.Tyr96=)
|
rs376213437
|
0.00002
|
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00002
|
|
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln)
|
rs779068685
|
0.00002
|
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
|
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu)
|
rs756266694
|
0.00002
|
|
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)
|
rs759728732
|
0.00002
|
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
|
NM_000038.6(APC):c.6588A>C (p.Lys2196Asn)
|
rs961108427
|
0.00002
|
|
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)
|
rs374597207
|
0.00002
|
|
NM_000038.6(APC):c.689G>A (p.Arg230His)
|
rs587780545
|
0.00002
|
|
NM_000038.6(APC):c.6952A>G (p.Ser2318Gly)
|
rs747056590
|
0.00002
|
|
NM_000038.6(APC):c.6958C>T (p.Pro2320Ser)
|
rs587778036
|
0.00002
|
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
|
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)
|
rs779287035
|
0.00002
|
|
NM_000038.6(APC):c.7182T>C (p.Ser2394=)
|
rs777420141
|
0.00002
|
|
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys)
|
rs543396310
|
0.00002
|
|
NM_000038.6(APC):c.7821C>T (p.Ser2607=)
|
rs532235331
|
0.00002
|
|
NM_000038.6(APC):c.7833A>G (p.Thr2611=)
|
rs1057520909
|
0.00002
|
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
|
NM_000038.6(APC):c.8071A>G (p.Asn2691Asp)
|
rs1060503281
|
0.00002
|
|
NM_000038.6(APC):c.8141G>A (p.Arg2714His)
|
rs747362422
|
0.00002
|
|
NM_000038.6(APC):c.8199A>G (p.Gln2733=)
|
rs372365378
|
0.00002
|
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
|
NM_000039.3(APOA1):c.41C>T (p.Thr14Met)
|
rs778560581
|
0.00002
|
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
|
NM_000046.5(ARSB):c.1143-1G>C
|
rs431905495
|
0.00002
|
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
|
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)
|
rs1255777033
|
0.00002
|
|
NM_000048.4(ASL):c.1267G>A (p.Asp423Asn)
|
rs778321544
|
0.00002
|
|
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)
|
rs199938613
|
0.00002
|
|
NM_000048.4(ASL):c.447-1G>A
|
rs778254333
|
0.00002
|
|
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)
|
rs752397242
|
0.00002
|
|
NM_000048.4(ASL):c.62T>C (p.Met21Thr)
|
rs774392615
|
0.00002
|
|
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)
|
rs761651320
|
0.00002
|
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
|
NM_000049.4(ASPA):c.237-2A>T
|
rs780936696
|
0.00002
|
|
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)
|
rs761064915
|
0.00002
|
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
|
NM_000051.4(ATM):c.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
|
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)
|
rs752527112
|
0.00002
|
|
NM_000051.4(ATM):c.1792A>G (p.Ile598Val)
|
rs730881343
|
0.00002
|
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
|
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)
|
rs544123518
|
0.00002
|
|
NM_000051.4(ATM):c.2082T>C (p.Leu694=)
|
rs369642243
|
0.00002
|
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
|
NM_000051.4(ATM):c.2115C>T (p.Tyr705=)
|
rs876659149
|
0.00002
|
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
|
NM_000051.4(ATM):c.2258T>C (p.Met753Thr)
|
rs587781607
|
0.00002
|
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
|
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)
|
rs876660498
|
0.00002
|
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
|
NM_000051.4(ATM):c.3402+3A>G
|
rs786203688
|
0.00002
|
|
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile)
|
rs779148780
|
0.00002
|
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
|
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)
|
rs766226370
|
0.00002
|
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
|
NM_000051.4(ATM):c.4332G>A (p.Leu1444=)
|
rs753570046
|
0.00002
|
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
|
NM_000051.4(ATM):c.4482T>C (p.Cys1494=)
|
rs769071554
|
0.00002
|
|
NM_000051.4(ATM):c.4575A>T (p.Ile1525=)
|
rs781539071
|
0.00002
|
|
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)
|
rs730881393
|
0.00002
|
|
NM_000051.4(ATM):c.5005+8A>G
|
rs1204604787
|
0.00002
|
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
|
NM_000051.4(ATM):c.518G>T (p.Arg173Met)
|
rs372694758
|
0.00002
|
|
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)
|
rs763020528
|
0.00002
|
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
|
NM_000051.4(ATM):c.6042G>A (p.Glu2014=)
|
rs138987778
|
0.00002
|
|
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)
|
rs758038580
|
0.00002
|
|
NM_000051.4(ATM):c.6219C>G (p.Leu2073=)
|
rs752478345
|
0.00002
|
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
|
NM_000051.4(ATM):c.6774C>T (p.Leu2258=)
|
rs1057520450
|
0.00002
|
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
|
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys)
|
rs863224462
|
0.00002
|
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
|
NM_000051.4(ATM):c.8121C>T (p.Ser2707=)
|
rs770138283
|
0.00002
|
|
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)
|
rs587781946
|
0.00002
|
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
|
NM_000053.4(ATP7B):c.1869+20A>G
|
rs566255910
|
0.00002
|
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
0.00002
|
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
|
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly)
|
rs372042739
|
0.00002
|
|
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe)
|
rs747598704
|
0.00002
|
|
NM_000055.4(BCHE):c.594T>G (p.Asp198Glu)
|
rs781368801
|
0.00002
|
|
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)
|
rs374569385
|
0.00002
|
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
|
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)
|
rs750687788
|
0.00002
|
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
|
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)
|
rs80358405
|
0.00002
|
|
NM_000059.4(BRCA2):c.1078C>G (p.Pro360Ala)
|
rs587782057
|
0.00002
|
|
NM_000059.4(BRCA2):c.1284A>G (p.Leu428=)
|
rs34770647
|
0.00002
|
|
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=)
|
rs80359782
|
0.00002
|
|
NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser)
|
rs587781799
|
0.00002
|
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)
|
rs80358454
|
0.00002
|
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
rs397507603
|
0.00002
|
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
|
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)
|
rs80358468
|
0.00002
|
|
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)
|
rs80358469
|
0.00002
|
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
|
NM_000059.4(BRCA2):c.183A>G (p.Leu61=)
|
rs776638534
|
0.00002
|
|
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala)
|
rs144192844
|
0.00002
|
|
NM_000059.4(BRCA2):c.2094A>G (p.Leu698=)
|
rs28897714
|
0.00002
|
|
NM_000059.4(BRCA2):c.2226A>G (p.Gln742=)
|
rs748757085
|
0.00002
|
|
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=)
|
rs766384913
|
0.00002
|
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
rs587782737
|
0.00002
|
|
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=)
|
rs587776462
|
0.00002
|
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
|
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=)
|
rs45619134
|
0.00002
|
|
NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)
|
rs748609599
|
0.00002
|
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
rs80358559
|
0.00002
|
|
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg)
|
rs1064793927
|
0.00002
|
|
NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser)
|
rs372433502
|
0.00002
|
|
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val)
|
rs80358571
|
0.00002
|
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
|
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr)
|
rs28897719
|
0.00002
|
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00002
|
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
rs183920365
|
0.00002
|
|
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)
|
rs587782201
|
0.00002
|
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
|
NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr)
|
rs80358613
|
0.00002
|
|
NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val)
|
rs745700206
|
0.00002
|
|
NM_000059.4(BRCA2):c.3714G>A (p.Val1238=)
|
rs780000105
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
|
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=)
|
rs768735660
|
0.00002
|
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
|
NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val)
|
rs1159807733
|
0.00002
|
|
NM_000059.4(BRCA2):c.4530C>T (p.Pro1510=)
|
rs757731214
|
0.00002
|
|
NM_000059.4(BRCA2):c.4767A>G (p.Pro1589=)
|
rs755818549
|
0.00002
|
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
|
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)
|
rs200582465
|
0.00002
|
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
|
NM_000059.4(BRCA2):c.5014T>C (p.Tyr1672His)
|
rs781671762
|
0.00002
|
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
rs80358732
|
0.00002
|
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
rs80358737
|
0.00002
|
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
|
NM_000059.4(BRCA2):c.534A>G (p.Lys178=)
|
rs28897703
|
0.00002
|
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
|
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val)
|
rs397507352
|
0.00002
|
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
|
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met)
|
rs397507795
|
0.00002
|
|
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=)
|
rs768907899
|
0.00002
|
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
|
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)
|
rs80358812
|
0.00002
|
|
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe)
|
rs398122542
|
0.00002
|
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
rs80358823
|
0.00002
|
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
rs55730620
|
0.00002
|
|
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)
|
rs28897737
|
0.00002
|
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
|
NM_000059.4(BRCA2):c.6054T>C (p.Ser2018=)
|
rs540799830
|
0.00002
|
|
NM_000059.4(BRCA2):c.6098T>A (p.Ile2033Lys)
|
rs398122548
|
0.00002
|
|
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg)
|
rs80358852
|
0.00002
|
|
NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn)
|
rs587780657
|
0.00002
|
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
rs80358887
|
0.00002
|
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
|
NM_000059.4(BRCA2):c.680C>T (p.Ala227Val)
|
rs149565664
|
0.00002
|
|
NM_000059.4(BRCA2):c.6848C>A (p.Pro2283His)
|
rs80358910
|
0.00002
|
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
rs41293505
|
0.00002
|
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
|
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=)
|
rs587780660
|
0.00002
|
|
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=)
|
rs138067005
|
0.00002
|
|
NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr)
|
rs55924966
|
0.00002
|
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
|
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln)
|
rs80358982
|
0.00002
|
|
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)
|
rs397507390
|
0.00002
|
|
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)
|
rs80358992
|
0.00002
|
|
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu)
|
rs80358995
|
0.00002
|
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
rs879255308
|
0.00002
|
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
|
NM_000059.4(BRCA2):c.8002A>G (p.Arg2668Gly)
|
rs276174900
|
0.00002
|
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
|
NM_000059.4(BRCA2):c.8163T>C (p.Leu2721=)
|
rs786201741
|
0.00002
|
|
NM_000059.4(BRCA2):c.8331+16C>G
|
rs730881595
|
0.00002
|
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
rs146120136
|
0.00002
|
|
NM_000059.4(BRCA2):c.8488-10A>G
|
rs749196803
|
0.00002
|
|
NM_000059.4(BRCA2):c.8505A>G (p.Ser2835=)
|
rs765655952
|
0.00002
|
|
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)
|
rs758884639
|
0.00002
|
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
|
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His)
|
rs144322424
|
0.00002
|
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
rs786201996
|
0.00002
|
|
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val)
|
rs80359131
|
0.00002
|
|
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)
|
rs398122716
|
0.00002
|
|
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His)
|
rs80359150
|
0.00002
|
|
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)
|
rs56179254
|
0.00002
|
|
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile)
|
rs431825374
|
0.00002
|
|
NM_000059.4(BRCA2):c.90T>C (p.Asn30=)
|
rs760655471
|
0.00002
|
|
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)
|
rs587782428
|
0.00002
|
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
|
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)
|
rs80359198
|
0.00002
|
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
|
NM_000059.4(BRCA2):c.9426T>C (p.Asp3142=)
|
rs786201946
|
0.00002
|
|
NM_000059.4(BRCA2):c.9455A>G (p.Glu3152Gly)
|
rs80359219
|
0.00002
|
|
NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr)
|
rs755201475
|
0.00002
|
|
NM_000059.4(BRCA2):c.9649-9T>G
|
rs765352313
|
0.00002
|
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
rs55835607
|
0.00002
|
|
NM_000059.4(BRCA2):c.9918C>A (p.Thr3306=)
|
rs562881210
|
0.00002
|
|
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)
|
rs80359254
|
0.00002
|
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
|
NM_000077.5(CDKN2A):c.*6C>G
|
rs375628411
|
0.00002
|
|
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)
|
rs373407950
|
0.00002
|
|
NM_000077.5(CDKN2A):c.151G>A (p.Val51Ile)
|
rs762630679
|
0.00002
|
|
NM_000077.5(CDKN2A):c.400G>C (p.Ala134Pro)
|
rs372599739
|
0.00002
|
|
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=)
|
rs778871932
|
0.00002
|
|
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu)
|
rs575920043
|
0.00002
|
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
|
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)
|
rs559605075
|
0.00002
|
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
|
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu)
|
rs763901831
|
0.00002
|
|
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=)
|
rs376207711
|
0.00002
|
|
NM_000090.4(COL3A1):c.582+12C>T
|
rs41272799
|
0.00002
|
|
NM_000090.4(COL3A1):c.696A>G (p.Glu232=)
|
rs193922177
|
0.00002
|
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
|
NM_000091.5(COL4A3):c.4027+10C>T
|
rs778737711
|
0.00002
|
|
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=)
|
rs761257919
|
0.00002
|
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
|
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp)
|
rs376588113
|
0.00002
|
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
|
NM_000096.4(CP):c.583G>A (p.Gly195Arg)
|
rs750451693
|
0.00002
|
|
NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met)
|
rs72549379
|
0.00002
|
|
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser)
|
rs768047511
|
0.00002
|
|
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val)
|
rs72549305
|
0.00002
|
|
NM_000110.4(DPYD):c.545T>A (p.Met182Lys)
|
rs779728902
|
0.00002
|
|
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
|
rs104893916
|
0.00002
|
|
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys)
|
rs762787339
|
0.00002
|
|
NM_000117.3(EMD):c.276C>T (p.Asp92=)
|
rs782680849
|
0.00002
|
|
NM_000122.2(ERCC3):c.351A>T (p.Lys117Asn)
|
rs762430357
|
0.00002
|
|
NM_000124.4(ERCC6):c.2230C>T (p.Arg744Trp)
|
rs368188837
|
0.00002
|
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
|
NM_000126.4(ETFA):c.494T>C (p.Val165Ala)
|
rs749455172
|
0.00002
|
|
NM_000128.4(F11):c.683G>A (p.Arg228Gln)
|
rs281875246
|
0.00002
|
|
NM_000132.4(F8):c.1030A>C (p.Lys344Gln)
|
rs782395704
|
0.00002
|
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
|
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)
|
rs201063698
|
0.00002
|
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
|
NM_000136.3(FANCC):c.233C>A (p.Pro78His)
|
rs138722298
|
0.00002
|
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
|
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)
|
rs377620735
|
0.00002
|
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
|
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro)
|
rs1060502515
|
0.00002
|
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
|
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)
|
rs121965076
|
0.00002
|
|
NM_000137.4(FAH):c.707-1G>A
|
rs149052294
|
0.00002
|
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
|
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
|
NM_000138.5(FBN1):c.7454-6T>C
|
rs1253572031
|
0.00002
|
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
|
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)
|
rs121913112
|
0.00002
|
|
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)
|
rs77722678
|
0.00002
|
|
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)
|
rs118204450
|
0.00002
|
|
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
|
rs750470654
|
0.00002
|
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
|
NM_000152.5(GAA):c.-2C>T
|
rs560511228
|
0.00002
|
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
|
NM_000152.5(GAA):c.1195-22C>T
|
rs1038744830
|
0.00002
|
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
|
NM_000153.4(GALC):c.430del (p.Ile144fs)
|
rs775277935
|
0.00002
|
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
|
NM_000155.3(GALT):c.-392A>T
|
rs924095458
|
0.00002
|
|
NM_000155.4(GALT):c.268G>C (p.Asp90His)
|
rs201330799
|
0.00002
|
|
NM_000155.4(GALT):c.507+17C>T
|
rs747136664
|
0.00002
|
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
|
NM_000155.4(GALT):c.799C>T (p.Leu267=)
|
rs764006034
|
0.00002
|
|
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)
|
rs1141812
|
0.00002
|
|
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)
|
rs746019841
|
0.00002
|
|
NM_000157.4(GBA1):c.689T>G (p.Val230Gly)
|
rs381427
|
0.00002
|
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
|
NM_000157.4(GBA1):c.941A>G (p.Asn314Ser)
|
rs535896234
|
0.00002
|
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
|
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)
|
rs774526353
|
0.00002
|
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
|
NM_000162.5(GCK):c.1285A>C (p.Arg429=)
|
rs140672134
|
0.00002
|
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
|
NM_000163.5(GHR):c.206C>T (p.Thr69Ile)
|
rs75028043
|
0.00002
|
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
|
NM_000179.3(MSH6):c.1308C>T (p.Tyr436=)
|
rs761037236
|
0.00002
|
|
NM_000179.3(MSH6):c.1509C>T (p.Ser503=)
|
rs545020313
|
0.00002
|
|
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)
|
rs730882130
|
0.00002
|
|
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)
|
rs768854566
|
0.00002
|
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
|
NM_000179.3(MSH6):c.1773A>G (p.Pro591=)
|
rs752239740
|
0.00002
|
|
NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala)
|
rs759403696
|
0.00002
|
|
NM_000179.3(MSH6):c.2241G>A (p.Leu747=)
|
rs377722465
|
0.00002
|
|
NM_000179.3(MSH6):c.2508C>T (p.Asn836=)
|
rs758170249
|
0.00002
|
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
|
NM_000179.3(MSH6):c.2551A>G (p.Ser851Gly)
|
rs762352116
|
0.00002
|
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
|
NM_000179.3(MSH6):c.25A>G (p.Ser9Gly)
|
rs41294986
|
0.00002
|
|
NM_000179.3(MSH6):c.2604G>A (p.Met868Ile)
|
rs749508276
|
0.00002
|
|
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)
|
rs774774596
|
0.00002
|
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
|
NM_000179.3(MSH6):c.2775A>G (p.Gly925=)
|
rs587779248
|
0.00002
|
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
|
NM_000179.3(MSH6):c.2973A>G (p.Pro991=)
|
rs1057521349
|
0.00002
|
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
|
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)
|
rs587781690
|
0.00002
|
|
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser)
|
rs786204182
|
0.00002
|
|
NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)
|
rs587779937
|
0.00002
|
|
NM_000179.3(MSH6):c.3786G>A (p.Val1262=)
|
rs760771483
|
0.00002
|
|
NM_000179.3(MSH6):c.3801+4T>C
|
rs758830540
|
0.00002
|
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
|
NM_000179.3(MSH6):c.3951T>C (p.His1317=)
|
rs764786814
|
0.00002
|
|
NM_000179.3(MSH6):c.3979A>C (p.Asn1327His)
|
rs756216566
|
0.00002
|
|
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)
|
rs786204130
|
0.00002
|
|
NM_000179.3(MSH6):c.476C>T (p.Ala159Val)
|
rs587778528
|
0.00002
|
|
NM_000179.3(MSH6):c.609A>G (p.Glu203=)
|
rs536686679
|
0.00002
|
|
NM_000179.3(MSH6):c.615A>G (p.Glu205=)
|
rs1334827373
|
0.00002
|
|
NM_000179.3(MSH6):c.728G>A (p.Arg243His)
|
rs370157832
|
0.00002
|
|
NM_000179.3(MSH6):c.852T>C (p.Asp284=)
|
rs1057520320
|
0.00002
|
|
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)
|
rs55760494
|
0.00002
|
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
|
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys)
|
rs61749754
|
0.00002
|
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
|
NM_000181.4(GUSB):c.1244+1G>A
|
rs765969571
|
0.00002
|
|
NM_000181.4(GUSB):c.1790-2dup
|
rs764071830
|
0.00002
|
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
|
NM_000182.5(HADHA):c.676+2T>C
|
rs772683361
|
0.00002
|
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
|
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro)
|
rs773127211
|
0.00002
|
|
NM_000190.4(HMBS):c.67G>A (p.Val23Met)
|
rs776931683
|
0.00002
|
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
|
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser)
|
rs771177142
|
0.00002
|
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00002
|
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
|
NM_000207.3(INS):c.266G>A (p.Arg89His)
|
rs28933985
|
0.00002
|
|
NM_000215.4(JAK3):c.1503G>T (p.Gln501His)
|
rs201283129
|
0.00002
|
|
NM_000215.4(JAK3):c.268G>A (p.Val90Met)
|
rs1016346013
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1794+10C>T
|
rs558507741
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1794+16G>A
|
rs199660137
|
0.00002
|
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
|
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=)
|
rs775479779
|
0.00002
|
|
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)
|
rs532875477
|
0.00002
|
|
NM_000228.3(LAMB3):c.2110G>C (p.Glu704Gln)
|
rs750850607
|
0.00002
|
|
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)
|
rs776537364
|
0.00002
|
|
NM_000231.3(SGCG):c.535G>A (p.Val179Met)
|
rs139072866
|
0.00002
|
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
|
NM_000237.3(LPL):c.547G>A (p.Asp183Asn)
|
rs781614031
|
0.00002
|
|
NM_000237.3(LPL):c.755T>C (p.Ile252Thr)
|
rs118204080
|
0.00002
|
|
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)
|
rs562875924
|
0.00002
|
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
|
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile)
|
rs199473030
|
0.00002
|
|
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
rs763015849
|
0.00002
|
|
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)
|
rs1057519328
|
0.00002
|
|
NM_000243.3(MEFV):c.1229G>A (p.Arg410His)
|
rs1399033974
|
0.00002
|
|
NM_000243.3(MEFV):c.1759+12G>A
|
rs749730274
|
0.00002
|
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
|
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
rs746092199
|
0.00002
|
|
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
rs201075710
|
0.00002
|
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
|
NM_000249.4(MLH1):c.1039-10T>A
|
rs1353365805
|
0.00002
|
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
|
NM_000249.4(MLH1):c.1890T>G (p.Ile630Met)
|
rs774878438
|
0.00002
|
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
|
NM_000249.4(MLH1):c.45G>C (p.Val15=)
|
rs768409958
|
0.00002
|
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
|
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)
|
rs63751597
|
0.00002
|
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
|
NM_000251.3(MSH2):c.1014A>C (p.Gly338=)
|
rs774083607
|
0.00002
|
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
0.00002
|
|
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)
|
rs587782759
|
0.00002
|
|
NM_000251.3(MSH2):c.1276+7A>G
|
rs748554540
|
0.00002
|
|
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)
|
rs755818010
|
0.00002
|
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
|
NM_000251.3(MSH2):c.2010C>T (p.Pro670=)
|
rs766618212
|
0.00002
|
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
|
NM_000251.3(MSH2):c.2277A>G (p.Gly759=)
|
rs1057520316
|
0.00002
|
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
|
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)
|
rs199747712
|
0.00002
|
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
|
NM_000251.3(MSH2):c.894G>C (p.Gln298His)
|
rs587781397
|
0.00002
|
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
|
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)
|
rs1238694184
|
0.00002
|
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
|
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=)
|
rs754870909
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=)
|
rs727503199
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2784G>C (p.Ser928=)
|
rs372510974
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=)
|
rs762154672
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
|
NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)
|
rs758659692
|
0.00002
|
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
|
NM_000257.4(MYH7):c.354G>A (p.Ser118=)
|
rs368925624
|
0.00002
|
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
|
NM_000257.4(MYH7):c.4389G>A (p.Ser1463=)
|
rs781203524
|
0.00002
|
|
NM_000257.4(MYH7):c.4762C>T (p.Arg1588Cys)
|
rs1194197356
|
0.00002
|
|
NM_000257.4(MYH7):c.5090G>A (p.Arg1697Gln)
|
rs766831916
|
0.00002
|
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
|
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His)
|
rs757803046
|
0.00002
|
|
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu)
|
rs730880953
|
0.00002
|
|
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr)
|
rs749017586
|
0.00002
|
|
NM_000258.3(MYL3):c.219C>T (p.Tyr73=)
|
rs780500137
|
0.00002
|
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00002
|
|
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)
|
rs111534474
|
0.00002
|
|
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)
|
rs746667217
|
0.00002
|
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
|
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr)
|
rs749506008
|
0.00002
|
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
|
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)
|
rs28942105
|
0.00002
|
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
|
NM_000274.4(OAT):c.46C>T (p.Arg16Cys)
|
rs778757920
|
0.00002
|
|
NM_000275.3(OCA2):c.565_566del (p.Leu189fs)
|
rs1312967591
|
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.463C>T (p.Arg155Cys)
|
rs539743701
|
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_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
|
NM_000302.4(PLOD1):c.882C>T (p.Ile294=)
|
rs747668784
|
0.00002
|
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
|
NM_000303.3(PMM2):c.178+1G>A
|
rs935962174
|
0.00002
|
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
|
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)
|
rs191295403
|
0.00002
|
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
|
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
|
rs780581250
|
0.00002
|
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
|
NM_000314.6(PTEN):c.-929G>A
|
rs1554889924
|
0.00002
|
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
|
NM_000314.8(PTEN):c.-798A>G
|
rs577569375
|
0.00002
|
|
NM_000314.8(PTEN):c.261A>G (p.Gln87=)
|
rs149772796
|
0.00002
|
|
NM_000314.8(PTEN):c.411A>G (p.Ala137=)
|
rs144545031
|
0.00002
|
|
NM_000314.8(PTEN):c.456A>G (p.Leu152=)
|
rs779626613
|
0.00002
|
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
|
NM_000321.3(RB1):c.2491A>G (p.Ile831Val)
|
rs761068783
|
0.00002
|
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
|
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys)
|
rs540596321
|
0.00002
|
|
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His)
|
rs770588235
|
0.00002
|
|
NM_000334.4(SCN4A):c.56C>T (p.Pro19Leu)
|
rs745506979
|
0.00002
|
|
NM_000335.5(SCN5A):c.1579G>A (p.Gly527Arg)
|
rs763550164
|
0.00002
|
|
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp)
|
rs878859550
|
0.00002
|
|
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)
|
rs587781161
|
0.00002
|
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
|
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala)
|
rs759036311
|
0.00002
|
|
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)
|
rs958480279
|
0.00002
|
|
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=)
|
rs587781162
|
0.00002
|
|
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=)
|
rs193922725
|
0.00002
|
|
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)
|
rs745435760
|
0.00002
|
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
|
NM_000335.5(SCN5A):c.453C>T (p.His151=)
|
rs199996750
|
0.00002
|
|
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)
|
rs199473327
|
0.00002
|
|
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg)
|
rs145009013
|
0.00002
|
|
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)
|
rs756853742
|
0.00002
|
|
NM_000350.3(ABCA4):c.2304C>G (p.Ile768Met)
|
rs946594091
|
0.00002
|
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
|
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
|
rs375783686
|
0.00002
|
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
|
NM_000352.6(ABCC8):c.1886C>T (p.Pro629Leu)
|
rs375862506
|
0.00002
|
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
|
NM_000352.6(ABCC8):c.3175G>A (p.Asp1059Asn)
|
rs755718934
|
0.00002
|
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
|
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)
|
rs760429286
|
0.00002
|
|
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)
|
rs771820315
|
0.00002
|
|
NM_000360.4(TH):c.1061C>T (p.Ala354Val)
|
rs763039181
|
0.00002
|
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
|
NM_000363.5(TNNI3):c.283-9C>T
|
rs759922995
|
0.00002
|
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
|
NM_000371.4(TTR):c.-1G>C
|
rs769343676
|
0.00002
|
|
NM_000372.5(TYR):c.646T>A (p.Leu216Met)
|
rs61754363
|
0.00002
|
|
NM_000377.3(WAS):c.273+15C>T
|
rs1286865928
|
0.00002
|
|
NM_000380.4(XPA):c.555G>C (p.Gln185His)
|
rs746617574
|
0.00002
|
|
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)
|
rs104894133
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
|
rs72547573
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.1393G>A (p.Gly465Ser)
|
rs371197295
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)
|
rs866392702
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.909T>G (p.Gly303=)
|
rs755458255
|
0.00002
|
|
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)
|
rs179363880
|
0.00002
|
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
|
NM_000388.4(CASR):c.1732+17T>G
|
rs201033132
|
0.00002
|
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
|
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)
|
rs121908195
|
0.00002
|
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
|
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly)
|
rs555111281
|
0.00002
|
|
NM_000393.5(COL5A2):c.799-6A>G
|
rs111586240
|
0.00002
|
|
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln)
|
rs200870056
|
0.00002
|
|
NM_000397.4(CYBB):c.621C>T (p.Tyr207=)
|
rs371655268
|
0.00002
|
|
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)
|
rs121965016
|
0.00002
|
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
|
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys)
|
rs190678702
|
0.00002
|
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
|
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)
|
rs769781778
|
0.00002
|
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
|
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
|
rs779023917
|
0.00002
|
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
|
NM_000410.4(HFE):c.892G>T (p.Glu298Ter)
|
rs749553271
|
0.00002
|
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
|
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)
|
rs550705310
|
0.00002
|
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
|
NM_000426.4(LAMA2):c.358G>A (p.Glu120Lys)
|
rs778869610
|
0.00002
|
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
|
NM_000434.4(NEU1):c.982G>A (p.Gly328Ser)
|
rs534846786
|
0.00002
|
|
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu)
|
rs749288986
|
0.00002
|
|
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)
|
rs373537826
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1300G>A (p.Ala434Thr)
|
rs757552791
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)
|
rs759360026
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
|
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)
|
rs994170964
|
0.00002
|
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
|
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)
|
rs104894289
|
0.00002
|
|
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)
|
rs28933392
|
0.00002
|
|
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)
|
rs121909180
|
0.00002
|
|
NM_000455.5(STK11):c.-9G>A
|
rs770466669
|
0.00002
|
|
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)
|
rs587782058
|
0.00002
|
|
NM_000455.5(STK11):c.1108+3G>A
|
rs755746417
|
0.00002
|
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
|
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
|
NM_000455.5(STK11):c.597+9G>A
|
rs863224361
|
0.00002
|
|
NM_000455.5(STK11):c.735C>G (p.Leu245=)
|
rs773147894
|
0.00002
|
|
NM_000455.5(STK11):c.944C>T (p.Pro315Leu)
|
rs766958608
|
0.00002
|
|
NM_000455.5(STK11):c.984C>G (p.Thr328=)
|
rs730881965
|
0.00002
|
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
|
NM_000465.4(BARD1):c.159-7C>T
|
rs533403598
|
0.00002
|
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
|
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys)
|
rs587782279
|
0.00002
|
|
NM_000465.4(BARD1):c.443G>A (p.Ser148Asn)
|
rs1220764138
|
0.00002
|
|
NM_000465.4(BARD1):c.476G>A (p.Ser159Asn)
|
rs786203226
|
0.00002
|
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
|
NM_000465.4(BARD1):c.564T>G (p.Pro188=)
|
rs748511245
|
0.00002
|
|
NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)
|
rs587780036
|
0.00002
|
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
|
NM_000465.4(BARD1):c.945A>T (p.Pro315=)
|
rs876660284
|
0.00002
|
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
|
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)
|
rs61750417
|
0.00002
|
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
|
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)
|
rs760029254
|
0.00002
|
|
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)
|
rs766076920
|
0.00002
|
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
|
NM_000486.6(AQP2):c.438C>T (p.Phe146=)
|
rs143886391
|
0.00002
|
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
|
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)
|
rs1375757476
|
0.00002
|
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
|
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)
|
rs398123419
|
0.00002
|
|
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=)
|
rs375935735
|
0.00002
|
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
|
NM_000492.4(CFTR):c.1287C>T (p.Phe429=)
|
rs763577850
|
0.00002
|
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
|
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)
|
rs138427145
|
0.00002
|
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
|
NM_000492.4(CFTR):c.1680-13A>G
|
rs757981933
|
0.00002
|
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
|
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
|
rs755986694
|
0.00002
|
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
|
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)
|
rs77284892
|
0.00002
|
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
|
NM_000492.4(CFTR):c.2490+5G>T
|
rs764466147
|
0.00002
|
|
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala)
|
rs761531223
|
0.00002
|
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
|
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu)
|
rs886186687
|
0.00002
|
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
|
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)
|
rs185397588
|
0.00002
|
|
NM_000492.4(CFTR):c.2908+19G>C
|
rs370683572
|
0.00002
|
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
|
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val)
|
rs759394109
|
0.00002
|
|
NM_000492.4(CFTR):c.336T>C (p.Asp112=)
|
rs909596175
|
0.00002
|
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
|
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly)
|
rs150326506
|
0.00002
|
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
|
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)
|
rs200921635
|
0.00002
|
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
|
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr)
|
rs115762793
|
0.00002
|
|
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser)
|
rs747324955
|
0.00002
|
|
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser)
|
rs201686600
|
0.00002
|
|
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)
|
rs578237673
|
0.00002
|
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
|
NM_000492.4(CFTR):c.54-5939G>T
|
rs1486318196
|
0.00002
|
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
|
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
|
rs759726535
|
0.00002
|
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
|
NM_000492.4(CFTR):c.964G>A (p.Val322Met)
|
rs1800085
|
0.00002
|
|
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)
|
rs79031340
|
0.00002
|
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
|
NM_000494.4(COL17A1):c.3580T>C (p.Ser1194Pro)
|
rs139697030
|
0.00002
|
|
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val)
|
rs994764994
|
0.00002
|
|
NM_000501.4(ELN):c.133+6G>A
|
rs1216357938
|
0.00002
|
|
NM_000503.6(EYA1):c.966+8A>G
|
rs190039495
|
0.00002
|
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
|
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val)
|
rs761386453
|
0.00002
|
|
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)
|
rs1221167717
|
0.00002
|
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
0.00002
|
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00002
|
|
NM_000512.5(GALNS):c.498del (p.Phe167fs)
|
rs772656696
|
0.00002
|
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
|
NM_000515.5(GH1):c.350A>G (p.Gln117Arg)
|
rs142396035
|
0.00002
|
|
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)
|
rs35256489
|
0.00002
|
|
NM_000518.5(HBB):c.*93A>T
|
rs901033731
|
0.00002
|
|
NM_000518.5(HBB):c.-21T>C
|
rs772919319
|
0.00002
|
|
NM_000518.5(HBB):c.151A>T (p.Thr51Ser)
|
rs63750336
|
0.00002
|
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
|
NM_000518.5(HBB):c.223G>A (p.Gly75Ser)
|
rs33916541
|
0.00002
|
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
|
NM_000518.5(HBB):c.316-150C>G
|
rs193922556
|
0.00002
|
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
|
NM_000518.5(HBB):c.41C>T (p.Ala14Val)
|
rs35203747
|
0.00002
|
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
|
NM_000520.5(HEXA):c.-593T>C
|
rs1483623884
|
0.00002
|
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
|
NM_000520.6(HEXA):c.436del (p.Val146fs)
|
rs1057517174
|
0.00002
|
|
NM_000520.6(HEXA):c.571-1G>T
|
rs185429231
|
0.00002
|
|
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)
|
rs751592419
|
0.00002
|
|
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)
|
rs1352786910
|
0.00002
|
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
|
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)
|
rs746982741
|
0.00002
|
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
|
NM_000527.5(LDLR):c.1706-21_1706-19del
|
rs386134242
|
0.00002
|
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
|
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)
|
rs201971888
|
0.00002
|
|
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe)
|
rs1279368649
|
0.00002
|
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
|
NM_000527.5(LDLR):c.993C>T (p.Asp331=)
|
rs147905921
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)
|
rs747721968
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu)
|
rs376856949
|
0.00002
|
|
NM_000531.6(OTC):c.380C>T (p.Thr127Met)
|
rs762910963
|
0.00002
|
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
|
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser)
|
rs200726484
|
0.00002
|
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
|
NM_000535.7(PMS2):c.1435C>G (p.His479Asp)
|
rs376344586
|
0.00002
|
|
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp)
|
rs539285592
|
0.00002
|
|
NM_000535.7(PMS2):c.1629C>T (p.Asp543=)
|
rs111673299
|
0.00002
|
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
|
NM_000535.7(PMS2):c.2174+6T>C
|
rs587780050
|
0.00002
|
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
|
NM_000535.7(PMS2):c.23+7G>C
|
rs878854047
|
0.00002
|
|
NM_000535.7(PMS2):c.2349C>T (p.Val783=)
|
rs751036491
|
0.00002
|
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
|
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)
|
rs1313207845
|
0.00002
|
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
|
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
0.00002
|
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
|
NM_000545.8(HNF1A):c.216C>T (p.Asp72=)
|
rs148961412
|
0.00002
|
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
|
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
rs573130482
|
0.00002
|
|
NM_000546.6(TP53):c.234A>G (p.Ala78=)
|
rs375099397
|
0.00002
|
|
NM_000546.6(TP53):c.464C>G (p.Thr155Ser)
|
rs786202752
|
0.00002
|
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
|
NM_000546.6(TP53):c.468C>T (p.Arg156=)
|
rs761222871
|
0.00002
|
|
NM_000546.6(TP53):c.510G>A (p.Thr170=)
|
rs757544615
|
0.00002
|
|
NM_000546.6(TP53):c.582T>C (p.Leu194=)
|
rs370216745
|
0.00002
|
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_000546.6(TP53):c.784G>A (p.Gly262Ser)
|
rs200579969
|
0.00002
|
|
NM_000548.5(TSC2):c.3610+4C>T
|
rs201978396
|
0.00002
|
|
NM_000548.5(TSC2):c.4849+18C>T
|
rs45517374
|
0.00002
|
|
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)
|
rs200943828
|
0.00002
|
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
|
NM_000552.5(VWF):c.3379+1G>A
|
rs2363337
|
0.00002
|
|
NM_000552.5(VWF):c.4000C>T (p.Arg1334Trp)
|
rs746810319
|
0.00002
|
|
NM_000552.5(VWF):c.7887+2T>A
|
rs113814258
|
0.00002
|
|
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter)
|
rs774765029
|
0.00002
|
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
|
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)
|
rs779439947
|
0.00002
|
|
NM_000642.3(AGL):c.3836+3A>G
|
rs372921189
|
0.00002
|
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
|
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)
|
rs34956071
|
0.00002
|
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
|
NM_000718.4(CACNA1B):c.4584G>C (p.Leu1528=)
|
rs1363673878
|
0.00002
|
|
NM_000719.7(CACNA1C):c.1689G>C (p.Leu563=)
|
rs372908090
|
0.00002
|
|
NM_000719.7(CACNA1C):c.2339+20C>A
|
rs201164691
|
0.00002
|
|
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu)
|
rs752247655
|
0.00002
|
|
NM_000719.7(CACNA1C):c.372-9C>G
|
rs367763190
|
0.00002
|
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
0.00002
|
|
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=)
|
rs774966357
|
0.00002
|
|
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro)
|
rs1060503516
|
0.00002
|
|
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val)
|
rs774281185
|
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_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
|
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=)
|
rs760434776
|
0.00002
|
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
|
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)
|
rs199900632
|
0.00002
|
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
|
NM_001005242.3(PKP2):c.558C>T (p.Ala186=)
|
rs184522105
|
0.00002
|
|
NM_001005242.3(PKP2):c.687C>T (p.Thr229=)
|
rs1209406571
|
0.00002
|
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
|
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
|
rs775072430
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
|
NM_001032283.3(TMPO):c.565+1232C>T
|
rs369897433
|
0.00002
|
|
NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys)
|
rs760901724
|
0.00002
|
|
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
|
rs144064367
|
0.00002
|
|
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)
|
rs757316102
|
0.00002
|
|
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln)
|
rs751555693
|
0.00002
|
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
|
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=)
|
rs369532267
|
0.00002
|
|
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)
|
rs781557399
|
0.00002
|
|
NM_001035.3(RYR2):c.14896C>T (p.Leu4966=)
|
rs368031082
|
0.00002
|
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
|
NM_001035.3(RYR2):c.463+7A>G
|
rs755850445
|
0.00002
|
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
|
NM_001036.6(RYR3):c.13784C>G (p.Ala4595Gly)
|
rs770077165
|
0.00002
|
|
NM_001037.5(SCN1B):c.448+100G>T
|
rs779658201
|
0.00002
|
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
|
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser)
|
rs587781896
|
0.00002
|
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
|
NM_001042492.3(NF1):c.4434T>C (p.Phe1478=)
|
rs1310523976
|
0.00002
|
|
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
|
rs763413441
|
0.00002
|
|
NM_001042492.3(NF1):c.5574A>G (p.Ala1858=)
|
rs760561904
|
0.00002
|
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
|
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=)
|
rs139527415
|
0.00002
|
|
NM_001042517.2(DIAPH3):c.1561A>G (p.Thr521Ala)
|
rs775151037
|
0.00002
|
|
NM_001042545.2(LTBP4):c.2638C>T (p.Pro880Ser)
|
rs761312837
|
0.00002
|
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)
|
rs773370513
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)
|
rs373803765
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)
|
rs369299948
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
|
NM_001048174.2(MUTYH):c.183C>T (p.Asp61=)
|
rs538419476
|
0.00002
|
|
NM_001048174.2(MUTYH):c.441T>C (p.Ala147=)
|
rs786201352
|
0.00002
|
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
|
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)
|
rs779997419
|
0.00002
|
|
NM_001048174.2(MUTYH):c.49del (p.Ala17fs)
|
rs587781704
|
0.00002
|
|
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)
|
rs587781645
|
0.00002
|
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
|
NM_001048174.2(MUTYH):c.83A>G (p.Asn28Ser)
|
rs563275223
|
0.00002
|
|
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)
|
rs587778537
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr)
|
rs368198378
|
0.00002
|
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
|
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
|
rs912556508
|
0.00002
|
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00002
|
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
|
NM_001082486.2(ACD):c.1004G>A (p.Arg335His)
|
rs774558672
|
0.00002
|
|
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)
|
rs758728749
|
0.00002
|
|
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)
|
rs758110629
|
0.00002
|
|
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)
|
rs148237800
|
0.00002
|
|
NM_001085049.3(MRAS):c.22A>G (p.Ser8Gly)
|
rs547745521
|
0.00002
|
|
NM_001085049.3(MRAS):c.369C>T (p.Leu123=)
|
rs145069429
|
0.00002
|
|
NM_001085049.3(MRAS):c.548G>A (p.Ser183Asn)
|
rs562054267
|
0.00002
|
|
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs)
|
rs756855585
|
0.00002
|
|
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val)
|
rs368409665
|
0.00002
|
|
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=)
|
rs148223734
|
0.00002
|
|
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=)
|
rs727505177
|
0.00002
|
|
NM_001103.4(ACTN2):c.536+6C>G
|
rs771398006
|
0.00002
|
|
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys)
|
rs1060503683
|
0.00002
|
|
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)
|
rs372113435
|
0.00002
|
|
NM_001110556.2(FLNA):c.2724C>T (p.Asp908=)
|
rs1557178153
|
0.00002
|
|
NM_001110556.2(FLNA):c.3705C>T (p.Tyr1235=)
|
rs368741634
|
0.00002
|
|
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)
|
rs781928289
|
0.00002
|
|
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=)
|
rs782525345
|
0.00002
|
|
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)
|
rs12395634
|
0.00002
|
|
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)
|
rs953454766
|
0.00002
|
|
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala)
|
rs782289803
|
0.00002
|
|
NM_001110556.2(FLNA):c.7452C>T (p.Arg2484=)
|
rs782320498
|
0.00002
|
|
NM_001110792.2(MECP2):c.108A>G (p.Lys36=)
|
rs782202329
|
0.00002
|
|
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro)
|
rs782019867
|
0.00002
|
|
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro)
|
rs782420258
|
0.00002
|
|
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter)
|
rs267608569
|
0.00002
|
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
|
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr)
|
rs1240023402
|
0.00002
|
|
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys)
|
rs587777421
|
0.00002
|
|
NM_001110792.2(MECP2):c.414-6C>G
|
rs782482746
|
0.00002
|
|
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys)
|
rs1234894476
|
0.00002
|
|
NM_001110792.2(MECP2):c.645G>A (p.Thr215=)
|
rs61749722
|
0.00002
|
|
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val)
|
rs142756279
|
0.00002
|
|
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)
|
rs574359460
|
0.00002
|
|
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met)
|
rs771326058
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.540-20T>C
|
rs756413933
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
|
NM_001128159.3(VPS53):c.2371C>T (p.Arg791Cys)
|
rs1188509631
|
0.00002
|
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
|
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)
|
rs587782837
|
0.00002
|
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
|
NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys)
|
rs372297758
|
0.00002
|
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2908C>T (p.Arg970Trp)
|
rs765257420
|
0.00002
|
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
|
NM_001136472.2(LITAF):c.479G>A (p.Arg160His)
|
rs864622744
|
0.00002
|
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
|
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)
|
rs527236067
|
0.00002
|
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
|
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val)
|
rs727503225
|
0.00002
|
|
NM_001148.6(ANK2):c.10646G>A (p.Arg3549His)
|
rs768351547
|
0.00002
|
|
NM_001148.6(ANK2):c.1680C>T (p.Thr560=)
|
rs752903781
|
0.00002
|
|
NM_001148.6(ANK2):c.2044C>G (p.Leu682Val)
|
rs749503484
|
0.00002
|
|
NM_001148.6(ANK2):c.2869G>A (p.Val957Met)
|
rs756861229
|
0.00002
|
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
|
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)
|
rs531261130
|
0.00002
|
|
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=)
|
rs143404578
|
0.00002
|
|
NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser)
|
rs202098889
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)
|
rs902775927
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)
|
rs769726248
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
|
NM_001164508.2(NEB):c.20342G>A (p.Arg6781His)
|
rs752285938
|
0.00002
|
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=)
|
rs895560193
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile)
|
rs146374754
|
0.00002
|
|
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs)
|
rs1064794241
|
0.00002
|
|
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser)
|
rs372660425
|
0.00002
|
|
NM_001194998.2(CEP152):c.2148-17G>A
|
rs751691427
|
0.00002
|
|
NM_001194998.2(CEP152):c.4094-1G>A
|
rs759175035
|
0.00002
|
|
NM_001197104.2(KMT2A):c.10901-5A>G
|
rs369909433
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)
|
rs564477999
|
0.00002
|
|
NM_001199138.2(NLRC4):c.104G>A (p.Arg35His)
|
rs755228287
|
0.00002
|
|
NM_001205293.3(CACNA1E):c.324G>A (p.Leu108=)
|
rs753350389
|
0.00002
|
|
NM_001220.5(CAMK2B):c.1176+9C>G
|
rs766988307
|
0.00002
|
|
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)
|
rs774229391
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
|
rs563580010
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3509G>A (p.Ser1170Asn)
|
rs776451256
|
0.00002
|
|
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)
|
rs751097758
|
0.00002
|
|
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)
|
rs746462207
|
0.00002
|
|
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys)
|
rs145913750
|
0.00002
|
|
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala)
|
rs878854282
|
0.00002
|
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
|
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala)
|
rs201240519
|
0.00002
|
|
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)
|
rs369619711
|
0.00002
|
|
NM_001267550.2(TTN):c.14502A>G (p.Ala4834=)
|
rs779926164
|
0.00002
|
|
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)
|
rs768211726
|
0.00002
|
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
|
NM_001267550.2(TTN):c.21962-15G>A
|
rs369307143
|
0.00002
|
|
NM_001267550.2(TTN):c.2205C>T (p.Tyr735=)
|
rs1005406948
|
0.00002
|
|
NM_001267550.2(TTN):c.2219G>A (p.Arg740His)
|
rs28933405
|
0.00002
|
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00002
|
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
|
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile)
|
rs369521909
|
0.00002
|
|
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp)
|
rs200572298
|
0.00002
|
|
NM_001267550.2(TTN):c.26179G>A (p.Val8727Ile)
|
rs544958705
|
0.00002
|
|
NM_001267550.2(TTN):c.27285T>C (p.Asn9095=)
|
rs372827810
|
0.00002
|
|
NM_001267550.2(TTN):c.28754-11T>C
|
rs146738622
|
0.00002
|
|
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=)
|
rs770084292
|
0.00002
|
|
NM_001267550.2(TTN):c.33657G>A (p.Pro11219=)
|
rs754038093
|
0.00002
|
|
NM_001267550.2(TTN):c.342C>T (p.Thr114=)
|
rs758521732
|
0.00002
|
|
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)
|
rs375391365
|
0.00002
|
|
NM_001267550.2(TTN):c.34965C>T (p.Ala11655=)
|
rs996246602
|
0.00002
|
|
NM_001267550.2(TTN):c.41980C>T (p.Pro13994Ser)
|
rs201232835
|
0.00002
|
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
|
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)
|
rs377015571
|
0.00002
|
|
NM_001267550.2(TTN):c.44425-13T>A
|
rs565739809
|
0.00002
|
|
NM_001267550.2(TTN):c.52679A>T (p.Asp17560Val)
|
rs954068043
|
0.00002
|
|
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His)
|
rs574313741
|
0.00002
|
|
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys)
|
rs537070177
|
0.00002
|
|
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro)
|
rs1044328956
|
0.00002
|
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
|
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=)
|
rs199742163
|
0.00002
|
|
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys)
|
rs751863629
|
0.00002
|
|
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn)
|
rs148353350
|
0.00002
|
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
|
NM_001267550.2(TTN):c.63794-15T>C
|
rs762325051
|
0.00002
|
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
|
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His)
|
rs751046367
|
0.00002
|
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
|
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=)
|
rs371324060
|
0.00002
|
|
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)
|
rs397517669
|
0.00002
|
|
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)
|
rs548223512
|
0.00002
|
|
NM_001267550.2(TTN):c.68818G>A (p.Glu22940Lys)
|
rs1443126035
|
0.00002
|
|
NM_001267550.2(TTN):c.69960C>T (p.Asn23320=)
|
rs752969136
|
0.00002
|
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00002
|
|
NM_001267550.2(TTN):c.72675G>A (p.Pro24225=)
|
rs374314698
|
0.00002
|
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
|
NM_001267550.2(TTN):c.81029T>C (p.Val27010Ala)
|
rs369235214
|
0.00002
|
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00002
|
|
NM_001267550.2(TTN):c.88895-18C>T
|
rs547463003
|
0.00002
|
|
NM_001267550.2(TTN):c.89054A>G (p.Lys29685Arg)
|
rs773157007
|
0.00002
|
|
NM_001267550.2(TTN):c.92715C>T (p.Gly30905=)
|
rs140576051
|
0.00002
|
|
NM_001267550.2(TTN):c.93474C>T (p.Asp31158=)
|
rs750803038
|
0.00002
|
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
|
NM_001267550.2(TTN):c.95550G>A (p.Lys31850=)
|
rs775609788
|
0.00002
|
|
NM_001267550.2(TTN):c.96871A>T (p.Thr32291Ser)
|
rs1377452178
|
0.00002
|
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
|
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
|
NM_001289808.2(CRYAB):c.325-2A>G
|
rs202024436
|
0.00002
|
|
NM_001291303.3(FAT4):c.9156C>A (p.Asp3052Glu)
|
rs761372826
|
0.00002
|
|
NM_001292034.3(TAB2):c.1747A>G (p.Ile583Val)
|
rs202240545
|
0.00002
|
|
NM_001292063.2(OTOG):c.2525C>A (p.Pro842His)
|
rs560987450
|
0.00002
|
|
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
|
rs746418433
|
0.00002
|
|
NM_001322934.2(NFKB2):c.1726G>C (p.Glu576Gln)
|
rs1306109565
|
0.00002
|
|
NM_001330.5(CTF1):c.83G>A (p.Arg28His)
|
rs201703547
|
0.00002
|
|
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro)
|
rs753009673
|
0.00002
|
|
NM_001349253.2(SCN11A):c.2944C>T (p.Arg982Ter)
|
rs145290679
|
0.00002
|
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
|
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu)
|
rs781794862
|
0.00002
|
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
|
NM_001365088.1(SLC12A6):c.3427A>G (p.Ser1143Gly)
|
rs1322848611
|
0.00002
|
|
NM_001365951.3(KIF1B):c.4947-11C>G
|
rs761028018
|
0.00002
|
|
NM_001367624.2(ZNF469):c.3119A>C (p.Lys1040Thr)
|
rs273585619
|
0.00002
|
|
NM_001367624.2(ZNF469):c.99G>A (p.Pro33=)
|
rs273585631
|
0.00002
|
|
NM_001369268.1(ACAN):c.1201G>A (p.Val401Ile)
|
rs200027891
|
0.00002
|
|
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr)
|
rs751285545
|
0.00002
|
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
|
NM_001372043.1(PCSK5):c.5315T>C (p.Leu1772Pro)
|
rs905582676
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr)
|
rs763306448
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1731T>C (p.His577=)
|
rs768761501
|
0.00002
|
|
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=)
|
rs765275016
|
0.00002
|
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
|
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=)
|
rs541180403
|
0.00002
|
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)
|
rs1278648561
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=)
|
rs574095166
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
|
rs775666186
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)
|
rs886940102
|
0.00002
|
|
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)
|
rs750954043
|
0.00002
|
|
NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp)
|
rs551388856
|
0.00002
|
|
NM_001379610.1(SPINK1):c.-14G>A
|
rs373391756
|
0.00002
|
|
NM_001379610.1(SPINK1):c.27del (p.Ser10fs)
|
rs193922659
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
|
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala)
|
rs773843633
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.5930G>A (p.Arg1977His)
|
rs1456219036
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
|
NM_001386298.1(CIC):c.6664C>T (p.Arg2222Trp)
|
rs773220927
|
0.00002
|
|
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)
|
rs137852969
|
0.00002
|
|
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)
|
rs753376100
|
0.00002
|
|
NM_001386795.1(DTNA):c.1776C>T (p.Pro592=)
|
rs113072494
|
0.00002
|
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
0.00002
|
|
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
|
rs28931607
|
0.00002
|
|
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter)
|
rs781946801
|
0.00002
|
|
NM_001429.4(EP300):c.1094A>G (p.Asn365Ser)
|
rs747431211
|
0.00002
|
|
NM_001448.3(GPC4):c.650C>T (p.Ala217Val)
|
rs2068380433
|
0.00002
|
|
NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys)
|
rs376280025
|
0.00002
|
|
NM_001458.5(FLNC):c.1209G>A (p.Ala403=)
|
rs746938160
|
0.00002
|
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
|
NM_001458.5(FLNC):c.3255C>T (p.Ile1085=)
|
rs771719713
|
0.00002
|
|
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg)
|
rs1202331272
|
0.00002
|
|
NM_001493.3(GDI1):c.1192-5T>C
|
rs782184019
|
0.00002
|
|
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)
|
rs373774032
|
0.00002
|
|
NM_001690.4(ATP6V1A):c.590A>G (p.Glu197Gly)
|
rs747456726
|
0.00002
|
|
NM_001844.5(COL2A1):c.2433T>A (p.Pro811=)
|
rs1441776862
|
0.00002
|
|
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met)
|
rs779139113
|
0.00002
|
|
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg)
|
rs768662646
|
0.00002
|
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
|
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)
|
rs139818667
|
0.00002
|
|
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
|
NM_001887.4(CRYBB1):c.692G>A (p.Arg231His)
|
rs745344551
|
0.00002
|
|
NM_001918.5(DBT):c.1A>G (p.Met1Val)
|
rs759312184
|
0.00002
|
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
|
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)
|
rs773954315
|
0.00002
|
|
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=)
|
rs757473850
|
0.00002
|
|
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)
|
rs121913012
|
0.00002
|
|
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)
|
rs770414295
|
0.00002
|
|
NM_001999.4(FBN2):c.1434C>T (p.Ala478=)
|
rs755786214
|
0.00002
|
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
|
NM_001999.4(FBN2):c.2772C>T (p.Leu924=)
|
rs773453872
|
0.00002
|
|
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)
|
rs537477883
|
0.00002
|
|
NM_001999.4(FBN2):c.69G>T (p.Ala23=)
|
rs774856011
|
0.00002
|
|
NM_001999.4(FBN2):c.7961-10G>A
|
rs752746367
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)
|
rs139497493
|
0.00002
|
|
NM_002185.5(IL7R):c.653G>A (p.Ser218Asn)
|
rs374232919
|
0.00002
|
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
|
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys)
|
rs199511559
|
0.00002
|
|
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)
|
rs191683892
|
0.00002
|
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
|
NM_002230.4(JUP):c.707+14C>T
|
rs1313165709
|
0.00002
|
|
NM_002230.4(JUP):c.951G>C (p.Gln317His)
|
rs782215140
|
0.00002
|
|
NM_002294.3(LAMP2):c.1094-10C>T
|
rs1278507301
|
0.00002
|
|
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)
|
rs754049402
|
0.00002
|
|
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)
|
rs765290711
|
0.00002
|
|
NM_002354.3(EPCAM):c.426-1G>A
|
rs373597944
|
0.00002
|
|
NM_002471.4(MYH6):c.1047C>T (p.Gly349=)
|
rs370709048
|
0.00002
|
|
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn)
|
rs758449996
|
0.00002
|
|
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile)
|
rs144761217
|
0.00002
|
|
NM_002471.4(MYH6):c.4182G>C (p.Lys1394Asn)
|
rs753160962
|
0.00002
|
|
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)
|
rs750721562
|
0.00002
|
|
NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val)
|
rs776961989
|
0.00002
|
|
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)
|
rs201383498
|
0.00002
|
|
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)
|
rs767096302
|
0.00002
|
|
NM_002474.3(MYH11):c.1130-13T>C
|
rs752403056
|
0.00002
|
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
|
NM_002474.3(MYH11):c.2112G>A (p.Val704=)
|
rs781085663
|
0.00002
|
|
NM_002474.3(MYH11):c.2361C>T (p.Thr787=)
|
rs763003023
|
0.00002
|
|
NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr)
|
rs759155353
|
0.00002
|
|
NM_002474.3(MYH11):c.4786A>C (p.Arg1596=)
|
rs754931029
|
0.00002
|
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
|
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)
|
rs863224714
|
0.00002
|
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
|
NM_002485.5(NBN):c.1845+3A>G
|
rs587780777
|
0.00002
|
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
|
NM_002485.5(NBN):c.1893A>G (p.Leu631=)
|
rs778364604
|
0.00002
|
|
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)
|
rs587781547
|
0.00002
|
|
NM_002485.5(NBN):c.193G>A (p.Val65Ile)
|
rs778998026
|
0.00002
|
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
|
NM_002485.5(NBN):c.2184+8G>C
|
rs730881842
|
0.00002
|
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
|
NM_002485.5(NBN):c.940G>A (p.Val314Met)
|
rs529845940
|
0.00002
|
|
NM_002485.5(NBN):c.966C>T (p.Tyr322=)
|
rs748453607
|
0.00002
|
|
NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp)
|
rs369353892
|
0.00002
|
|
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys)
|
rs764992664
|
0.00002
|
|
NM_002529.4(NTRK1):c.287+2dup
|
rs768373757
|
0.00002
|
|
NM_002617.4(PEX10):c.600+1G>A
|
rs267608183
|
0.00002
|
|
NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter)
|
rs200206423
|
0.00002
|
|
NM_002691.4(POLD1):c.1464C>T (p.Asp488=)
|
rs760263079
|
0.00002
|
|
NM_002691.4(POLD1):c.1666G>A (p.Val556Ile)
|
rs762273084
|
0.00002
|
|
NM_002691.4(POLD1):c.2250+5G>C
|
rs772130395
|
0.00002
|
|
NM_002691.4(POLD1):c.2427C>T (p.Tyr809=)
|
rs775317882
|
0.00002
|
|
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)
|
rs767216577
|
0.00002
|
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
|
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg)
|
rs369716454
|
0.00002
|
|
NM_002734.5(PRKAR1A):c.1134A>G (p.Ser378=)
|
rs1001156045
|
0.00002
|
|
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val)
|
rs1194755479
|
0.00002
|
|
NM_002734.5(PRKAR1A):c.60C>G (p.Leu20=)
|
rs372451862
|
0.00002
|
|
NM_002734.5(PRKAR1A):c.727C>A (p.Arg243=)
|
rs770136522
|
0.00002
|
|
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe)
|
rs765342413
|
0.00002
|
|
NM_002769.5(PRSS1):c.240C>T (p.Val80=)
|
rs772622287
|
0.00002
|
|
NM_002769.5(PRSS1):c.35C>T (p.Ala12Val)
|
rs772363999
|
0.00002
|
|
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr)
|
rs199422123
|
0.00002
|
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
|
NM_002769.5(PRSS1):c.454+5G>T
|
rs1468322371
|
0.00002
|
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
|
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val)
|
rs767712281
|
0.00002
|
|
NM_002834.5(PTPN11):c.327T>G (p.Ser109=)
|
rs1039250039
|
0.00002
|
|
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs)
|
rs758943884
|
0.00002
|
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
|
NM_002878.4(RAD51D):c.738+3G>A
|
rs751062153
|
0.00002
|
|
NM_002878.4(RAD51D):c.792C>G (p.Leu264=)
|
rs536544621
|
0.00002
|
|
NM_002878.4(RAD51D):c.868C>T (p.Arg290Trp)
|
rs527964137
|
0.00002
|
|
NM_002878.4(RAD51D):c.872G>A (p.Arg291His)
|
rs150134822
|
0.00002
|
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
|
NM_002878.4(RAD51D):c.899G>A (p.Arg300Gln)
|
rs761290755
|
0.00002
|
|
NM_002878.4(RAD51D):c.966A>G (p.Thr322=)
|
rs786203299
|
0.00002
|
|
NM_002880.4(RAF1):c.1193+17C>T
|
rs753928357
|
0.00002
|
|
NM_002880.4(RAF1):c.1431T>C (p.His477=)
|
rs770034641
|
0.00002
|
|
NM_002880.4(RAF1):c.1608C>T (p.Ile536=)
|
rs542779722
|
0.00002
|
|
NM_002880.4(RAF1):c.1668+4A>G
|
rs771344560
|
0.00002
|
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
|
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu)
|
rs771675427
|
0.00002
|
|
NM_002880.4(RAF1):c.934G>A (p.Val312Met)
|
rs555034652
|
0.00002
|
|
NM_002880.4(RAF1):c.952C>T (p.Arg318Trp)
|
rs759433668
|
0.00002
|
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
|
NM_003036.4(SKI):c.762C>T (p.Tyr254=)
|
rs56352201
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)
|
rs121908891
|
0.00002
|
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
|
NM_003098.3(SNTA1):c.702-7C>G
|
rs780688953
|
0.00002
|
|
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser)
|
rs786205847
|
0.00002
|
|
NM_003098.3(SNTA1):c.905A>G (p.Glu302Gly)
|
rs763371307
|
0.00002
|
|
NM_003119.4(SPG7):c.423G>T (p.Arg141=)
|
rs777943597
|
0.00002
|
|
NM_003172.4(SURF1):c.516-2A>G
|
rs782682492
|
0.00002
|
|
NM_003172.4(SURF1):c.897del (p.Val300fs)
|
rs782010013
|
0.00002
|
|
NM_003476.5(CSRP3):c.252G>A (p.Thr84=)
|
rs755614464
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)
|
rs121908681
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)
|
rs121908683
|
0.00002
|
|
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val)
|
rs764957976
|
0.00002
|
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
|
NM_003673.4(TCAP):c.378G>C (p.Gln126His)
|
rs749685550
|
0.00002
|
|
NM_003721.4(RFXANK):c.338-25_338del
|
rs776752313
|
0.00002
|
|
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter)
|
rs757205202
|
0.00002
|
|
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr)
|
rs199563590
|
0.00002
|
|
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu)
|
rs1038343665
|
0.00002
|
|
NM_003764.4(STX11):c.842T>G (p.Phe281Cys)
|
rs560006390
|
0.00002
|
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
|
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val)
|
rs113994073
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg)
|
rs72552272
|
0.00002
|
|
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)
|
rs386833814
|
0.00002
|
|
NM_004004.6(GJB2):c.298del (p.His100fs)
|
rs775828835
|
0.00002
|
|
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
|
rs1422767764
|
0.00002
|
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
|
NM_004006.3(DMD):c.1603-11C>T
|
rs370463654
|
0.00002
|
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
|
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)
|
rs371646182
|
0.00002
|
|
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)
|
rs1431604157
|
0.00002
|
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
|
NM_004006.3(DMD):c.9695G>A (p.Arg3232His)
|
rs751095907
|
0.00002
|
|
NM_004092.4(ECHS1):c.161G>A (p.Arg54His)
|
rs375266808
|
0.00002
|
|
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)
|
rs770931871
|
0.00002
|
|
NM_004100.5(EYA4):c.-14A>G
|
rs760845191
|
0.00002
|
|
NM_004100.5(EYA4):c.1107+10C>G
|
rs752586864
|
0.00002
|
|
NM_004100.5(EYA4):c.348G>A (p.Ala116=)
|
rs373496105
|
0.00002
|
|
NM_004100.5(EYA4):c.370+16C>T
|
rs376239950
|
0.00002
|
|
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu)
|
rs765608642
|
0.00002
|
|
NM_004281.4(BAG3):c.897C>T (p.Val299=)
|
rs763915884
|
0.00002
|
|
NM_004304.5(ALK):c.2569C>T (p.His857Tyr)
|
rs754393402
|
0.00002
|
|
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His)
|
rs751166692
|
0.00002
|
|
NM_004329.3(BMPR1A):c.-8A>G
|
rs546681014
|
0.00002
|
|
NM_004329.3(BMPR1A):c.12A>G (p.Leu4=)
|
rs772729006
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val)
|
rs587781503
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1368A>G (p.Pro456=)
|
rs864622447
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1569G>A (p.Lys523=)
|
rs876659703
|
0.00002
|
|
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His)
|
rs189059377
|
0.00002
|
|
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=)
|
rs786201114
|
0.00002
|
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
|
NM_004333.6(BRAF):c.1023A>G (p.Pro341=)
|
rs56092510
|
0.00002
|
|
NM_004333.6(BRAF):c.138+17C>G
|
rs756400234
|
0.00002
|
|
NM_004341.5(CAD):c.1547G>A (p.Arg516Gln)
|
rs772639350
|
0.00002
|
|
NM_004341.5(CAD):c.5014G>A (p.Ala1672Thr)
|
rs369531964
|
0.00002
|
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
|
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)
|
rs587782359
|
0.00002
|
|
NM_004360.5(CDH1):c.1119G>A (p.Pro373=)
|
rs758258272
|
0.00002
|
|
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn)
|
rs34466743
|
0.00002
|
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
|
NM_004360.5(CDH1):c.1423G>A (p.Val475Met)
|
rs587782113
|
0.00002
|
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
|
NM_004360.5(CDH1):c.1977G>A (p.Glu659=)
|
rs368243190
|
0.00002
|
|
NM_004360.5(CDH1):c.2103C>T (p.Val701=)
|
rs730881656
|
0.00002
|
|
NM_004360.5(CDH1):c.2157T>G (p.Ala719=)
|
rs762224244
|
0.00002
|
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
|
NM_004360.5(CDH1):c.2355C>T (p.Asn785=)
|
rs375988871
|
0.00002
|
|
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser)
|
rs587782623
|
0.00002
|
|
NM_004360.5(CDH1):c.378G>A (p.Pro126=)
|
rs786201504
|
0.00002
|
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
|
NM_004360.5(CDH1):c.406C>A (p.Gln136Lys)
|
rs753886948
|
0.00002
|
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
|
NM_004360.5(CDH1):c.845T>C (p.Met282Thr)
|
rs730881652
|
0.00002
|
|
NM_004360.5(CDH1):c.906C>T (p.Tyr302=)
|
rs370197479
|
0.00002
|
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
|
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)
|
rs764727126
|
0.00002
|
|
NM_004415.4(DSP):c.2046C>T (p.Cys682=)
|
rs771674559
|
0.00002
|
|
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
|
rs758592774
|
0.00002
|
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
|
NM_004415.4(DSP):c.384G>A (p.Met128Ile)
|
rs930440897
|
0.00002
|
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
|
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)
|
rs766950975
|
0.00002
|
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
|
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)
|
rs763912783
|
0.00002
|
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
|
NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu)
|
rs140802648
|
0.00002
|
|
NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu)
|
rs774369141
|
0.00002
|
|
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)
|
rs727504081
|
0.00002
|
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
|
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)
|
rs1450238352
|
0.00002
|
|
NM_004628.5(XPC):c.2033+1G>A
|
rs764480429
|
0.00002
|
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
|
NM_004646.4(NPHS1):c.-3G>A
|
rs1039683723
|
0.00002
|
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
|
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
|
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)
|
rs753656470
|
0.00002
|
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
|
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)
|
rs137853042
|
0.00002
|
|
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)
|
rs150855173
|
0.00002
|
|
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)
|
rs386833953
|
0.00002
|
|
NM_004655.4(AXIN2):c.1384C>T (p.Pro462Ser)
|
rs1060502156
|
0.00002
|
|
NM_004655.4(AXIN2):c.1827C>T (p.Pro609=)
|
rs747605090
|
0.00002
|
|
NM_004655.4(AXIN2):c.711C>T (p.Ala237=)
|
rs768230770
|
0.00002
|
|
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys)
|
rs754456635
|
0.00002
|
|
NM_004733.4(SLC33A1):c.763G>A (p.Val255Ile)
|
rs1173522838
|
0.00002
|
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
|
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)
|
rs958058841
|
0.00002
|
|
NM_005045.4(RELN):c.10019C>T (p.Ser3340Leu)
|
rs1469215547
|
0.00002
|
|
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)
|
rs780325204
|
0.00002
|
|
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp)
|
rs774980346
|
0.00002
|
|
NM_005097.4(LGI1):c.1316C>T (p.Ser439Leu)
|
rs143808356
|
0.00002
|
|
NM_005120.3(MED12):c.204+7C>T
|
rs776275934
|
0.00002
|
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
|
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser)
|
rs2092336419
|
0.00002
|
|
NM_005184.4(CALM3):c.249G>A (p.Glu83=)
|
rs755348000
|
0.00002
|
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00002
|
|
NM_005188.4(CBL):c.1563+16T>G
|
rs767609973
|
0.00002
|
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
|
NM_005188.4(CBL):c.195+14T>G
|
rs1011872703
|
0.00002
|
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
|
NM_005188.4(CBL):c.2235C>T (p.Thr745=)
|
rs763880494
|
0.00002
|
|
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser)
|
rs1454216416
|
0.00002
|
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
|
NM_005199.5(CHRNG):c.199G>A (p.Glu67Lys)
|
rs544552194
|
0.00002
|
|
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)
|
rs1303934222
|
0.00002
|
|
NM_005262.3(GFER):c.566C>G (p.Ser189Ter)
|
rs373135339
|
0.00002
|
|
NM_005343.4(HRAS):c.*1C>T
|
rs730880327
|
0.00002
|
|
NM_005343.4(HRAS):c.450+17C>T
|
rs367869009
|
0.00002
|
|
NM_005343.4(HRAS):c.45C>T (p.Gly15=)
|
rs727504614
|
0.00002
|
|
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)
|
rs780716382
|
0.00002
|
|
NM_005359.6(SMAD4):c.9T>C (p.Asn3=)
|
rs762273127
|
0.00002
|
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
|
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)
|
rs866841518
|
0.00002
|
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
|
NM_005502.4(ABCA1):c.1912C>T (p.Arg638Trp)
|
rs199571829
|
0.00002
|
|
NM_005502.4(ABCA1):c.4050+8G>A
|
rs371581830
|
0.00002
|
|
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)
|
rs118203901
|
0.00002
|
|
NM_005591.4(MRE11):c.1139G>A (p.Arg380His)
|
rs587781646
|
0.00002
|
|
NM_005591.4(MRE11):c.1501-4C>G
|
rs377584386
|
0.00002
|
|
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)
|
rs372068015
|
0.00002
|
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
|
NM_005618.4(DLL1):c.1822G>A (p.Gly608Arg)
|
rs771135690
|
0.00002
|
|
NM_005629.4(SLC6A8):c.144C>T (p.Ala48=)
|
rs782232933
|
0.00002
|
|
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His)
|
rs782802482
|
0.00002
|
|
NM_005633.4(SOS1):c.1008A>G (p.Gln336=)
|
rs1320092319
|
0.00002
|
|
NM_005633.4(SOS1):c.1251A>C (p.Leu417=)
|
rs144027132
|
0.00002
|
|
NM_005633.4(SOS1):c.2062C>A (p.Arg688=)
|
rs186246534
|
0.00002
|
|
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)
|
rs56248239
|
0.00002
|
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
|
NM_005633.4(SOS1):c.396A>T (p.Ala132=)
|
rs727505385
|
0.00002
|
|
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)
|
rs142094234
|
0.00002
|
|
NM_005676.5(RBM10):c.457G>A (p.Gly153Ser)
|
rs1198280152
|
0.00002
|
|
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)
|
rs139574075
|
0.00002
|
|
NM_005732.4(RAD50):c.2445G>A (p.Lys815=)
|
rs183510397
|
0.00002
|
|
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly)
|
rs779232513
|
0.00002
|
|
NM_005751.5(AKAP9):c.48+5G>A
|
rs377559019
|
0.00002
|
|
NM_005751.5(AKAP9):c.5581A>G (p.Ile1861Val)
|
rs778877483
|
0.00002
|
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
|
NM_005902.4(SMAD3):c.400+5G>T
|
rs766829176
|
0.00002
|
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
|
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)
|
rs374377679
|
0.00002
|
|
NM_005908.4(MANBA):c.550-1G>A
|
rs760404534
|
0.00002
|
|
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)
|
rs763849774
|
0.00002
|
|
NM_005984.5(SLC25A1):c.737C>A (p.Thr246Asn)
|
rs2083964037
|
0.00002
|
|
NM_006013.5(RPL10):c.484C>T (p.Arg162Cys)
|
rs372041364
|
0.00002
|
|
NM_006059.4(LAMC3):c.4159G>A (p.Ala1387Thr)
|
rs769688460
|
0.00002
|
|
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)
|
rs201738371
|
0.00002
|
|
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met)
|
rs764457707
|
0.00002
|
|
NM_006258.4(PRKG1):c.1101C>T (p.Phe367=)
|
rs752325371
|
0.00002
|
|
NM_006258.4(PRKG1):c.478+5G>A
|
rs763059343
|
0.00002
|
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
|
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp)
|
rs2081015843
|
0.00002
|
|
NM_006270.5(RRAS):c.454-19G>A
|
rs776793181
|
0.00002
|
|
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
|
rs771557284
|
0.00002
|
|
NM_006306.4(SMC1A):c.1546-5C>T
|
rs1556889651
|
0.00002
|
|
NM_006361.6(HOXB13):c.215G>T (p.Gly72Val)
|
rs774579054
|
0.00002
|
|
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
|
rs199939108
|
0.00002
|
|
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter)
|
rs763512999
|
0.00002
|
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
|
NM_006506.5(RASA2):c.1216C>T (p.Leu406=)
|
rs146956359
|
0.00002
|
|
NM_006506.5(RASA2):c.255A>G (p.Pro85=)
|
rs768464571
|
0.00002
|
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
|
NM_006767.4(LZTR1):c.1085G>A (p.Arg362Gln)
|
rs745476291
|
0.00002
|
|
NM_006767.4(LZTR1):c.1175C>T (p.Ala392Val)
|
rs767354230
|
0.00002
|
|
NM_006767.4(LZTR1):c.1615+4C>T
|
rs551144605
|
0.00002
|
|
NM_006767.4(LZTR1):c.1616-14G>T
|
rs899072517
|
0.00002
|
|
NM_006767.4(LZTR1):c.1749C>T (p.Cys583=)
|
rs758399311
|
0.00002
|
|
NM_006767.4(LZTR1):c.1985C>T (p.Ala662Val)
|
rs200248773
|
0.00002
|
|
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp)
|
rs141161152
|
0.00002
|
|
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=)
|
rs370009707
|
0.00002
|
|
NM_006767.4(LZTR1):c.2326-6T>C
|
rs199965510
|
0.00002
|
|
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu)
|
rs756852884
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.1677-4C>G
|
rs538524761
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser)
|
rs767071930
|
0.00002
|
|
NM_006796.3(AFG3L2):c.1164+18C>T
|
rs563588444
|
0.00002
|
|
NM_006892.4(DNMT3B):c.1297+6G>A
|
rs755091404
|
0.00002
|
|
NM_006915.3(RP2):c.481G>T (p.Asp161Tyr)
|
rs150333404
|
0.00002
|
|
NM_006939.4(SOS2):c.1156G>C (p.Asp386His)
|
rs776909576
|
0.00002
|
|
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser)
|
rs774498876
|
0.00002
|
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
|
NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln)
|
rs768742849
|
0.00002
|
|
NM_006949.4(STXBP2):c.1190C>T (p.Ala397Val)
|
rs1309026455
|
0.00002
|
|
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)
|
rs773360200
|
0.00002
|
|
NM_006949.4(STXBP2):c.902+5G>A
|
rs768725365
|
0.00002
|
|
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser)
|
rs192332506
|
0.00002
|
|
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)
|
rs768050261
|
0.00002
|
|
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)
|
rs750831299
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
|
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=)
|
rs560781587
|
0.00002
|
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
|
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln)
|
rs373959274
|
0.00002
|
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
|
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe)
|
rs537051622
|
0.00002
|
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
|
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val)
|
rs876659950
|
0.00002
|
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
|
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly)
|
rs587782813
|
0.00002
|
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
|
NM_007259.5(VPS45):c.1371+5A>G
|
rs369221126
|
0.00002
|
|
NM_007289.4(MME):c.1497+1G>C
|
rs1395068713
|
0.00002
|
|
NM_007289.4(MME):c.1914+1G>A
|
rs1003705057
|
0.00002
|
|
NM_007294.4(BRCA1):c.*20C>T
|
rs375042815
|
0.00002
|
|
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)
|
rs41286290
|
0.00002
|
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
|
NM_007294.4(BRCA1):c.1342C>T (p.His448Tyr)
|
rs786203578
|
0.00002
|
|
NM_007294.4(BRCA1):c.1357G>C (p.Glu453Gln)
|
rs768054411
|
0.00002
|
|
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn)
|
rs80357181
|
0.00002
|
|
NM_007294.4(BRCA1):c.1731A>G (p.Glu577=)
|
rs28897678
|
0.00002
|
|
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)
|
rs80356994
|
0.00002
|
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
|
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys)
|
rs80357029
|
0.00002
|
|
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)
|
rs28897680
|
0.00002
|
|
NM_007294.4(BRCA1):c.2263G>A (p.Glu755Lys)
|
rs41286296
|
0.00002
|
|
NM_007294.4(BRCA1):c.2334C>T (p.Gly778=)
|
rs777404687
|
0.00002
|
|
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly)
|
rs28897684
|
0.00002
|
|
NM_007294.4(BRCA1):c.2625A>G (p.Pro875=)
|
rs754222140
|
0.00002
|
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
|
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu)
|
rs730881485
|
0.00002
|
|
NM_007294.4(BRCA1):c.2897T>C (p.Ile966Thr)
|
rs879254045
|
0.00002
|
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
|
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)
|
rs80357271
|
0.00002
|
|
NM_007294.4(BRCA1):c.3238T>C (p.Leu1080=)
|
rs754597283
|
0.00002
|
|
NM_007294.4(BRCA1):c.3588A>G (p.Thr1196=)
|
rs876658595
|
0.00002
|
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
|
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=)
|
rs368690455
|
0.00002
|
|
NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser)
|
rs772703445
|
0.00002
|
|
NM_007294.4(BRCA1):c.4050C>T (p.Gly1350=)
|
rs779507799
|
0.00002
|
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
|
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)
|
rs41293453
|
0.00002
|
|
NM_007294.4(BRCA1):c.4675+11A>G
|
rs750095985
|
0.00002
|
|
NM_007294.4(BRCA1):c.4676-7C>T
|
rs80358005
|
0.00002
|
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
|
NM_007294.4(BRCA1):c.4987-4T>G
|
rs1157151499
|
0.00002
|
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
|
NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg)
|
rs397509229
|
0.00002
|
|
NM_007294.4(BRCA1):c.5153-6C>A
|
rs80358129
|
0.00002
|
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
|
NM_007294.4(BRCA1):c.5277+20G>A
|
rs766950602
|
0.00002
|
|
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=)
|
rs759867616
|
0.00002
|
|
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=)
|
rs754152768
|
0.00002
|
|
NM_007294.4(BRCA1):c.5402G>A (p.Gly1801Asp)
|
rs531210457
|
0.00002
|
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
|
NM_007294.4(BRCA1):c.5528C>T (p.Ala1843Val)
|
rs730881447
|
0.00002
|
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
|
NM_007294.4(BRCA1):c.594-15G>C
|
rs80358102
|
0.00002
|
|
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr)
|
rs147519994
|
0.00002
|
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
|
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)
|
rs80357176
|
0.00002
|
|
NM_007373.4(SHOC2):c.894A>C (p.Ala298=)
|
rs767912952
|
0.00002
|
|
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala)
|
rs779218281
|
0.00002
|
|
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
|
rs180177316
|
0.00002
|
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
|
NM_012310.5(KIF4A):c.2183G>A (p.Arg728Gln)
|
rs199529123
|
0.00002
|
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
|
NM_012464.5(TLL1):c.3017C>T (p.Pro1006Leu)
|
rs996415364
|
0.00002
|
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
|
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr)
|
rs756608021
|
0.00002
|
|
NM_013382.7(POMT2):c.1006+5G>A
|
rs587780422
|
0.00002
|
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
|
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)
|
rs761773211
|
0.00002
|
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
|
NM_013975.4(LIG3):c.446G>A (p.Arg149Gln)
|
rs772050625
|
0.00002
|
|
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp)
|
rs28935477
|
0.00002
|
|
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
|
rs149753643
|
0.00002
|
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
|
NM_014159.7(SETD2):c.4804A>G (p.Ile1602Val)
|
rs374749926
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)
|
rs1312396424
|
0.00002
|
|
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
|
rs104894424
|
0.00002
|
|
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)
|
rs104894430
|
0.00002
|
|
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)
|
rs1470124674
|
0.00002
|
|
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)
|
rs745656120
|
0.00002
|
|
NM_014332.3(SMPX):c.139C>T (p.Pro47Ser)
|
rs750405885
|
0.00002
|
|
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter)
|
rs200125117
|
0.00002
|
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
|
NM_014467.3(SRPX2):c.961+1G>A
|
rs1303998333
|
0.00002
|
|
NM_014476.6(PDLIM3):c.114G>A (p.Ala38=)
|
rs377383830
|
0.00002
|
|
NM_014476.6(PDLIM3):c.663-16C>T
|
rs527271064
|
0.00002
|
|
NM_014625.4(NPHS2):c.506T>C (p.Leu169Pro)
|
rs762336297
|
0.00002
|
|
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr)
|
rs200587413
|
0.00002
|
|
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)
|
rs199506378
|
0.00002
|
|
NM_014639.4(SKIC3):c.2703A>T (p.Gln901His)
|
rs201479762
|
0.00002
|
|
NM_014639.4(SKIC3):c.3637G>A (p.Gly1213Arg)
|
rs763389035
|
0.00002
|
|
NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys)
|
rs983037163
|
0.00002
|
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
|
NM_014797.3(ZBTB24):c.1222T>G (p.Cys408Gly)
|
rs387907105
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1312-2A>G
|
rs989538601
|
0.00002
|
|
NM_014915.3(ANKRD26):c.1153A>G (p.Thr385Ala)
|
rs375318218
|
0.00002
|
|
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)
|
rs765768857
|
0.00002
|
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
|
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys)
|
rs143486835
|
0.00002
|
|
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)
|
rs373221034
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
|
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
|
rs555619169
|
0.00002
|
|
NM_015474.4(SAMHD1):c.2T>C (p.Met1Thr)
|
rs923362391
|
0.00002
|
|
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys)
|
rs747675634
|
0.00002
|
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
|
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu)
|
rs746229586
|
0.00002
|
|
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)
|
rs777277759
|
0.00002
|
|
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)
|
rs368085185
|
0.00002
|
|
NM_016151.4(TAOK2):c.2078G>A (p.Arg693Gln)
|
rs755472068
|
0.00002
|
|
NM_016169.4(SUFU):c.807C>T (p.Val269=)
|
rs919110211
|
0.00002
|
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
|
NM_016553.5(NUP62):c.811A>T (p.Thr271Ser)
|
rs763897777
|
0.00002
|
|
NM_016599.5(MYOZ2):c.76+8T>C
|
rs773231367
|
0.00002
|
|
NM_016604.4(KDM3B):c.3203C>G (p.Thr1068Arg)
|
rs150418257
|
0.00002
|
|
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu)
|
rs754118526
|
0.00002
|
|
NM_016938.5(EFEMP2):c.368-5C>T
|
rs201248112
|
0.00002
|
|
NM_017563.5(IL17RD):c.2208C>T (p.Val736=)
|
rs546132688
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu)
|
rs756174213
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=)
|
rs201791826
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe)
|
rs765839822
|
0.00002
|
|
NM_017721.5(CC2D1A):c.2146C>T (p.Leu716Phe)
|
rs770391486
|
0.00002
|
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
|
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
|
rs200863680
|
0.00002
|
|
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln)
|
rs1286667377
|
0.00002
|
|
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala)
|
rs370194460
|
0.00002
|
|
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys)
|
rs587783435
|
0.00002
|
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
|
NM_017866.6(TMEM70):c.590A>T (p.Gln197Leu)
|
rs760235714
|
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_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
|
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)
|
rs773023974
|
0.00002
|
|
NM_018006.5(TRMU):c.249-2A>G
|
rs768299416
|
0.00002
|
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
|
NM_018076.5(ODAD2):c.844G>A (p.Val282Ile)
|
rs191594899
|
0.00002
|
|
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)
|
rs769266169
|
0.00002
|
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00002
|
|
NM_018292.5(QRSL1):c.850-3A>G
|
rs947204455
|
0.00002
|
|
NM_018418.5(SPATA7):c.1100A>G (p.Tyr367Cys)
|
rs768788013
|
0.00002
|
|
NM_018418.5(SPATA7):c.94+5G>A
|
rs371618316
|
0.00002
|
|
NM_018444.4(PDP1):c.1589T>C (p.Val530Ala)
|
rs1388317775
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
|
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)
|
rs765379963
|
0.00002
|
|
NM_019098.5(CNGB3):c.1320+4A>G
|
rs1026427970
|
0.00002
|
|
NM_019112.4(ABCA7):c.2929G>A (p.Gly977Ser)
|
rs758004382
|
0.00002
|
|
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His)
|
rs758951947
|
0.00002
|
|
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
|
rs750331066
|
0.00002
|
|
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)
|
rs763992407
|
0.00002
|
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
|
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)
|
rs202197951
|
0.00002
|
|
NM_020297.4(ABCC9):c.2004G>A (p.Glu668=)
|
rs751485829
|
0.00002
|
|
NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter)
|
rs193922683
|
0.00002
|
|
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=)
|
rs764155671
|
0.00002
|
|
NM_020297.4(ABCC9):c.928C>T (p.Leu310=)
|
rs747640613
|
0.00002
|
|
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)
|
rs267606751
|
0.00002
|
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00002
|
|
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)
|
rs565837539
|
0.00002
|
|
NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg)
|
rs573418252
|
0.00002
|
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
|
NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe)
|
rs797044826
|
0.00002
|
|
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)
|
rs115964813
|
0.00002
|
|
NM_020631.6(PLEKHG5):c.440-11C>T
|
rs747418024
|
0.00002
|
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
|
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met)
|
rs759314815
|
0.00002
|
|
NM_020778.5(ALPK3):c.4093+15C>T
|
rs771455330
|
0.00002
|
|
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
|
rs772800657
|
0.00002
|
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
|
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)
|
rs567241943
|
0.00002
|
|
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)
|
rs762952212
|
0.00002
|
|
NM_020975.6(RET):c.342C>T (p.Arg114=)
|
rs143083395
|
0.00002
|
|
NM_020975.6(RET):c.625+10G>A
|
rs371974705
|
0.00002
|
|
NM_020975.6(RET):c.777G>A (p.Pro259=)
|
rs1279646689
|
0.00002
|
|
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser)
|
rs377664706
|
0.00002
|
|
NM_021175.4(HAMP):c.223C>T (p.Arg75Ter)
|
rs200488037
|
0.00002
|
|
NM_021871.4(FGA):c.904C>G (p.Pro302Ala)
|
rs200203992
|
0.00002
|
|
NM_021939.4(FKBP10):c.1549G>T (p.Val517Phe)
|
rs112668233
|
0.00002
|
|
NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu)
|
rs368689327
|
0.00002
|
|
NM_022081.6(HPS4):c.1640G>C (p.Cys547Ser)
|
rs145674158
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe)
|
rs772446950
|
0.00002
|
|
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp)
|
rs199624796
|
0.00002
|
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
0.00002
|
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
|
NM_022436.3(ABCG5):c.282G>A (p.Thr94=)
|
rs756339433
|
0.00002
|
|
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)
|
rs761389904
|
0.00002
|
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
|
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)
|
rs765086319
|
0.00002
|
|
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp)
|
rs144060383
|
0.00002
|
|
NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
|
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)
|
rs281865025
|
0.00002
|
|
NM_024312.5(GNPTAB):c.954C>T (p.Ile318=)
|
rs150451045
|
0.00002
|
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
|
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)
|
rs532872056
|
0.00002
|
|
NM_024422.6(DSC2):c.1875G>C (p.Leu625=)
|
rs142594406
|
0.00002
|
|
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter)
|
rs753535530
|
0.00002
|
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
|
NM_024665.7(TBL1XR1):c.356G>C (p.Ser119Thr)
|
rs756214140
|
0.00002
|
|
NM_024665.7(TBL1XR1):c.961A>G (p.Thr321Ala)
|
rs753108357
|
0.00002
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1594C>T (p.Pro532Ser)
|
rs763007754
|
0.00002
|
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
|
NM_024675.4(PALB2):c.2418G>A (p.Pro806=)
|
rs577076372
|
0.00002
|
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
|
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr)
|
rs1555459513
|
0.00002
|
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
|
NM_024747.6(HPS6):c.1816C>T (p.Arg606Cys)
|
rs200618225
|
0.00002
|
|
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys)
|
rs768079186
|
0.00002
|
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
|
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)
|
rs119470019
|
0.00002
|
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
|
NM_025099.6(CTC1):c.1360del (p.Glu454fs)
|
rs748852501
|
0.00002
|
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
|
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
|
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser)
|
rs928144275
|
0.00002
|
|
NM_025216.3(WNT10A):c.376+1G>A
|
rs561503117
|
0.00002
|
|
NM_025233.7(COASY):c.1237+1G>C
|
rs770235902
|
0.00002
|
|
NM_025243.4(SLC19A3):c.607C>T (p.Pro203Ser)
|
rs767146802
|
0.00002
|
|
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)
|
rs755246924
|
0.00002
|
|
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)
|
rs760322583
|
0.00002
|
|
NM_030662.4(MAP2K2):c.1197C>T (p.Ala399=)
|
rs987393686
|
0.00002
|
|
NM_030662.4(MAP2K2):c.39C>T (p.Thr13=)
|
rs752951050
|
0.00002
|
|
NM_030662.4(MAP2K2):c.449T>C (p.Met150Thr)
|
rs1441349097
|
0.00002
|
|
NM_030662.4(MAP2K2):c.450+13G>A
|
rs572847821
|
0.00002
|
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
|
NM_030662.4(MAP2K2):c.474G>A (p.Val158=)
|
rs370736371
|
0.00002
|
|
NM_030662.4(MAP2K2):c.491G>T (p.Arg164Met)
|
rs751317148
|
0.00002
|
|
NM_030662.4(MAP2K2):c.529-10T>C
|
rs551098822
|
0.00002
|
|
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)
|
rs370547023
|
0.00002
|
|
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=)
|
rs199975775
|
0.00002
|
|
NM_030928.4(CDT1):c.1389C>T (p.Ser463=)
|
rs142465113
|
0.00002
|
|
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)
|
rs782428636
|
0.00002
|
|
NM_031407.7(HUWE1):c.7204+12G>A
|
rs782423789
|
0.00002
|
|
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)
|
rs200133991
|
0.00002
|
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
|
NM_032043.3(BRIP1):c.2751T>C (p.Ser917=)
|
rs150780318
|
0.00002
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
|
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)
|
rs575998972
|
0.00002
|
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
|
NM_032043.3(BRIP1):c.94-4A>G
|
rs765154059
|
0.00002
|
|
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg)
|
rs756460900
|
0.00002
|
|
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr)
|
rs748194962
|
0.00002
|
|
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val)
|
rs145552327
|
0.00002
|
|
NM_033118.4(MYLK2):c.1424+20G>A
|
rs375290219
|
0.00002
|
|
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)
|
rs730880422
|
0.00002
|
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
|
NM_033629.6(TREX1):c.383G>A (p.Arg128His)
|
rs751124579
|
0.00002
|
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
|
NM_053025.4(MYLK):c.2760C>T (p.Ala920=)
|
rs368080781
|
0.00002
|
|
NM_053025.4(MYLK):c.2835G>A (p.Val945=)
|
rs773308800
|
0.00002
|
|
NM_053025.4(MYLK):c.348G>A (p.Gln116=)
|
rs1275647065
|
0.00002
|
|
NM_053025.4(MYLK):c.3528T>C (p.Ala1176=)
|
rs766180911
|
0.00002
|
|
NM_053025.4(MYLK):c.435A>C (p.Ser145=)
|
rs747805468
|
0.00002
|
|
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp)
|
rs2059054614
|
0.00002
|
|
NM_053025.4(MYLK):c.4812C>T (p.Ile1604=)
|
rs138822291
|
0.00002
|
|
NM_053025.4(MYLK):c.717G>A (p.Ser239=)
|
rs146960026
|
0.00002
|
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
|
NM_054012.4(ASS1):c.294C>T (p.Ile98=)
|
rs183370361
|
0.00002
|
|
NM_054012.4(ASS1):c.920G>A (p.Arg307His)
|
rs571576756
|
0.00002
|
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
|
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)
|
rs121908144
|
0.00002
|
|
NM_057176.3(BSND):c.97G>C (p.Val33Leu)
|
rs754523289
|
0.00002
|
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
|
NM_058216.3(RAD51C):c.397C>G (p.Gln133Glu)
|
rs387907159
|
0.00002
|
|
NM_058216.3(RAD51C):c.453G>A (p.Val151=)
|
rs45553636
|
0.00002
|
|
NM_058216.3(RAD51C):c.705+10A>G
|
rs377586976
|
0.00002
|
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
|
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)
|
rs374196453
|
0.00002
|
|
NM_058216.3(RAD51C):c.945T>C (p.Phe315=)
|
rs201235884
|
0.00002
|
|
NM_058216.3(RAD51C):c.948T>C (p.His316=)
|
rs773196250
|
0.00002
|
|
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)
|
rs969715884
|
0.00002
|
|
NM_080873.3(ASB11):c.871T>C (p.Cys291Arg)
|
rs772919113
|
0.00002
|
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
|
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala)
|
rs774668971
|
0.00002
|
|
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)
|
rs121434292
|
0.00002
|
|
NM_133259.4(LRPPRC):c.3350G>A (p.Arg1117Gln)
|
rs369972045
|
0.00002
|
|
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala)
|
rs764147606
|
0.00002
|
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
|
NM_138694.4(PKHD1):c.11310+19C>T
|
rs767496904
|
0.00002
|
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
|
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro)
|
rs200129776
|
0.00002
|
|
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)
|
rs200466480
|
0.00002
|
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
|
NM_139076.3(ABRAXAS1):c.1077A>G (p.Arg359=)
|
rs929635919
|
0.00002
|
|
NM_139076.3(ABRAXAS1):c.144C>T (p.Ser48=)
|
rs763350470
|
0.00002
|
|
NM_139076.3(ABRAXAS1):c.662C>T (p.Ser221Leu)
|
rs1415231112
|
0.00002
|
|
NM_139076.3(ABRAXAS1):c.82G>C (p.Asp28His)
|
rs1262474994
|
0.00002
|
|
NM_139276.3(STAT3):c.2050G>C (p.Gly684Arg)
|
rs780466766
|
0.00002
|
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
|
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu)
|
rs763091079
|
0.00002
|
|
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp)
|
rs772497821
|
0.00002
|
|
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val)
|
rs774472456
|
0.00002
|
|
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=)
|
rs370481255
|
0.00002
|
|
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile)
|
rs369174815
|
0.00002
|
|
NM_144670.6(A2ML1):c.2765-18T>A
|
rs759540195
|
0.00002
|
|
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=)
|
rs201335448
|
0.00002
|
|
NM_144670.6(A2ML1):c.3933+4A>G
|
rs779680238
|
0.00002
|
|
NM_144670.6(A2ML1):c.409+1G>A
|
rs1454374124
|
0.00002
|
|
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)
|
rs775772721
|
0.00002
|
|
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)
|
rs376133710
|
0.00002
|
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
|
NM_148897.3(SDR9C7):c.1A>G (p.Met1Val)
|
rs749359344
|
0.00002
|
|
NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=)
|
rs372919447
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
|
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys)
|
rs941091989
|
0.00002
|
|
NM_152594.3(SPRED1):c.182G>A (p.Arg61His)
|
rs750686148
|
0.00002
|
|
NM_152594.3(SPRED1):c.879G>A (p.Leu293=)
|
rs535687467
|
0.00002
|
|
NM_153033.5(KCTD7):c.614C>T (p.Pro205Leu)
|
rs151338966
|
0.00002
|
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
|
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala)
|
rs781383498
|
0.00002
|
|
NM_170707.4(LMNA):c.1071C>T (p.Asp357=)
|
rs376875762
|
0.00002
|
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
|
NM_173483.4(CYP4F22):c.-1-1G>A
|
rs200464692
|
0.00002
|
|
NM_174878.3(CLRN1):c.571G>A (p.Val191Ile)
|
rs777257033
|
0.00002
|
|
NM_174934.4(SCN4B):c.594-2A>G
|
rs375535030
|
0.00002
|
|
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His)
|
rs370507566
|
0.00002
|
|
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile)
|
rs1235101437
|
0.00002
|
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
|
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)
|
rs374704368
|
0.00002
|
|
NM_176787.5(PIGN):c.787C>A (p.His263Asn)
|
rs376934090
|
0.00002
|
|
NM_176787.5(PIGN):c.963G>A (p.Gln321=)
|
rs587777187
|
0.00002
|
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
|
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg)
|
rs763501028
|
0.00002
|
|
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)
|
rs368490158
|
0.00002
|
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
|
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser)
|
rs955755199
|
0.00002
|
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
|
NM_198129.4(LAMA3):c.8192C>T (p.Thr2731Met)
|
rs776754771
|
0.00002
|
|
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu)
|
rs756053203
|
0.00002
|
|
NM_198407.2(GHSR):c.847C>T (p.Arg283Ter)
|
rs148371213
|
0.00002
|
|
NM_198578.4(LRRK2):c.3026A>C (p.His1009Pro)
|
rs375146075
|
0.00002
|
|
NM_198578.4(LRRK2):c.4894G>C (p.Glu1632Gln)
|
rs200580973
|
0.00002
|
|
NM_198681.4(PLEKHG5):c.-195C>T
|
rs534044053
|
0.00002
|
|
NM_198994.3(TGM6):c.1337-15T>C
|
rs754392096
|
0.00002
|
|
NM_199242.3(UNC13D):c.1056-8C>T
|
rs766550767
|
0.00002
|
|
NM_199242.3(UNC13D):c.1933C>T (p.Arg645Trp)
|
rs768266670
|
0.00002
|
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
|
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys)
|
rs776426313
|
0.00002
|
|
NM_201596.3(CACNB2):c.1260C>T (p.Asn420=)
|
rs931370978
|
0.00002
|
|
NM_203447.4(DOCK8):c.2381T>C (p.Leu794Pro)
|
rs769117348
|
0.00002
|
|
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser)
|
rs527474230
|
0.00002
|
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
|
NM_207361.6(FREM2):c.6416G>T (p.Gly2139Val)
|
rs371458568
|
0.00002
|
|
NR_003051.3(RMRP):n.-24_-12dup
|
rs781730798
|
0.00002
|
|
NR_003051.4(RMRP):n.16G>T
|
rs902313238
|
0.00002
|
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
|
NM_000016.6(ACADM):c.1194+1G>A
|
rs769331400
|
0.00001
|
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
|
NM_000016.6(ACADM):c.610T>C (p.Leu204=)
|
rs776993753
|
0.00001
|
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
|
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)
|
rs745793409
|
0.00001
|
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00001
|
|
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe)
|
rs368500899
|
0.00001
|
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
|
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)
|
rs370282954
|
0.00001
|
|
NM_000018.4(ACADVL):c.1678+4A>T
|
rs1057518417
|
0.00001
|
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
|
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)
|
rs775400380
|
0.00001
|
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
|
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)
|
rs769631635
|
0.00001
|
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
|
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
|
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)
|
rs748425041
|
0.00001
|
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
|
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
|
rs1233957241
|
0.00001
|
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
|
NM_000022.4(ADA):c.539T>C (p.Ile180Thr)
|
rs1421855638
|
0.00001
|
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
|
NM_000022.4(ADA):c.778G>A (p.Glu260Lys)
|
rs1235719506
|
0.00001
|
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
|
NM_000022.4(ADA):c.88T>C (p.Tyr30His)
|
rs775324175
|
0.00001
|
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
|
NM_000023.4(SGCA):c.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
|
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)
|
rs771121666
|
0.00001
|
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
|
NM_000030.3(AGXT):c.846+1G>T
|
rs180177281
|
0.00001
|
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
|
NM_000033.4(ABCD1):c.1991+8C>T
|
rs2091774199
|
0.00001
|
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
|
NM_000038.6(APC):c.1009A>G (p.Met337Val)
|
rs1438780449
|
0.00001
|
|
NM_000038.6(APC):c.1050T>G (p.Ser350=)
|
rs760345157
|
0.00001
|
|
NM_000038.6(APC):c.1110G>A (p.Leu370=)
|
rs1439967202
|
0.00001
|
|
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)
|
rs587779780
|
0.00001
|
|
NM_000038.6(APC):c.1286C>T (p.Pro429Leu)
|
rs1003390887
|
0.00001
|
|
NM_000038.6(APC):c.1290C>T (p.Gly430=)
|
rs730881234
|
0.00001
|
|
NM_000038.6(APC):c.1291A>G (p.Met431Val)
|
rs730881235
|
0.00001
|
|
NM_000038.6(APC):c.1321C>A (p.Pro441Thr)
|
rs1444245614
|
0.00001
|
|
NM_000038.6(APC):c.1441G>A (p.Val481Met)
|
rs587780542
|
0.00001
|
|
NM_000038.6(APC):c.1478A>G (p.Tyr493Cys)
|
rs770649674
|
0.00001
|
|
NM_000038.6(APC):c.1483A>G (p.Ile495Val)
|
rs372047677
|
0.00001
|
|
NM_000038.6(APC):c.14C>T (p.Ser5Leu)
|
rs373718658
|
0.00001
|
|
NM_000038.6(APC):c.1580G>C (p.Arg527Thr)
|
rs1554081889
|
0.00001
|
|
NM_000038.6(APC):c.1626+4C>A
|
rs1202435147
|
0.00001
|
|
NM_000038.6(APC):c.1691G>A (p.Arg564Gln)
|
rs747418061
|
0.00001
|
|
NM_000038.6(APC):c.1811C>G (p.Ala604Gly)
|
rs370955311
|
0.00001
|
|
NM_000038.6(APC):c.1895T>C (p.Ile632Thr)
|
rs587781360
|
0.00001
|
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
|
NM_000038.6(APC):c.2280A>G (p.Leu760=)
|
rs767947015
|
0.00001
|
|
NM_000038.6(APC):c.228C>T (p.Asn76=)
|
rs766325173
|
0.00001
|
|
NM_000038.6(APC):c.2414G>A (p.Arg805Gln)
|
rs200593940
|
0.00001
|
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
|
NM_000038.6(APC):c.2545G>A (p.Asp849Asn)
|
rs752193945
|
0.00001
|
|
NM_000038.6(APC):c.2613A>C (p.Gly871=)
|
rs36046448
|
0.00001
|
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
|
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)
|
rs199740875
|
0.00001
|
|
NM_000038.6(APC):c.268A>G (p.Lys90Glu)
|
rs763184444
|
0.00001
|
|
NM_000038.6(APC):c.2745G>A (p.Val915=)
|
rs761286097
|
0.00001
|
|
NM_000038.6(APC):c.2860T>C (p.Leu954=)
|
rs863224278
|
0.00001
|
|
NM_000038.6(APC):c.2903G>A (p.Ser968Asn)
|
rs1554084581
|
0.00001
|
|
NM_000038.6(APC):c.2942C>G (p.Pro981Arg)
|
rs587779784
|
0.00001
|
|
NM_000038.6(APC):c.2952A>G (p.Glu984=)
|
rs772562489
|
0.00001
|
|
NM_000038.6(APC):c.3128C>T (p.Pro1043Leu)
|
rs1030285956
|
0.00001
|
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
|
NM_000038.6(APC):c.343A>G (p.Met115Val)
|
rs1060503276
|
0.00001
|
|
NM_000038.6(APC):c.3555A>G (p.Thr1185=)
|
rs786201125
|
0.00001
|
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
|
NM_000038.6(APC):c.372A>G (p.Val124=)
|
rs749179034
|
0.00001
|
|
NM_000038.6(APC):c.3807A>G (p.Ile1269Met)
|
rs876658536
|
0.00001
|
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
|
NM_000038.6(APC):c.4119T>A (p.Pro1373=)
|
rs1248565162
|
0.00001
|
|
NM_000038.6(APC):c.4213G>A (p.Val1405Ile)
|
rs761966904
|
0.00001
|
|
NM_000038.6(APC):c.4341A>G (p.Gln1447=)
|
rs777153373
|
0.00001
|
|
NM_000038.6(APC):c.4443T>C (p.Val1481=)
|
rs1241257709
|
0.00001
|
|
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)
|
rs778699501
|
0.00001
|
|
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn)
|
rs730881251
|
0.00001
|
|
NM_000038.6(APC):c.4686C>T (p.Asp1562=)
|
rs72541812
|
0.00001
|
|
NM_000038.6(APC):c.468C>G (p.Asp156Glu)
|
rs752627126
|
0.00001
|
|
NM_000038.6(APC):c.4898C>T (p.Thr1633Ile)
|
rs765215625
|
0.00001
|
|
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)
|
rs529480958
|
0.00001
|
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
|
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)
|
rs754122018
|
0.00001
|
|
NM_000038.6(APC):c.5194A>G (p.Met1732Val)
|
rs752065261
|
0.00001
|
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
|
NM_000038.6(APC):c.5298T>C (p.Asp1766=)
|
rs781533317
|
0.00001
|
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
|
NM_000038.6(APC):c.5365G>C (p.Val1789Leu)
|
rs1554086666
|
0.00001
|
|
NM_000038.6(APC):c.5376T>C (p.Asn1792=)
|
rs76364845
|
0.00001
|
|
NM_000038.6(APC):c.5386A>G (p.Lys1796Glu)
|
rs367577259
|
0.00001
|
|
NM_000038.6(APC):c.5559T>C (p.Pro1853=)
|
rs1407859071
|
0.00001
|
|
NM_000038.6(APC):c.565T>C (p.Leu189=)
|
rs762146761
|
0.00001
|
|
NM_000038.6(APC):c.5670A>G (p.Ser1890=)
|
rs945185629
|
0.00001
|
|
NM_000038.6(APC):c.5759G>A (p.Arg1920Gln)
|
rs587780599
|
0.00001
|
|
NM_000038.6(APC):c.5779C>A (p.Leu1927Ile)
|
rs730881253
|
0.00001
|
|
NM_000038.6(APC):c.5784G>A (p.Gln1928=)
|
rs761186363
|
0.00001
|
|
NM_000038.6(APC):c.582G>A (p.Arg194=)
|
rs864622103
|
0.00001
|
|
NM_000038.6(APC):c.5866A>G (p.Ile1956Val)
|
rs749597014
|
0.00001
|
|
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn)
|
rs4987109
|
0.00001
|
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
|
NM_000038.6(APC):c.5976C>A (p.Pro1992=)
|
rs768878237
|
0.00001
|
|
NM_000038.6(APC):c.597G>A (p.Ala199=)
|
rs587780601
|
0.00001
|
|
NM_000038.6(APC):c.5987A>T (p.Gln1996Leu)
|
rs587779802
|
0.00001
|
|
NM_000038.6(APC):c.6127A>G (p.Ile2043Val)
|
rs876660233
|
0.00001
|
|
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly)
|
rs786204043
|
0.00001
|
|
NM_000038.6(APC):c.6203T>C (p.Met2068Thr)
|
rs863224547
|
0.00001
|
|
NM_000038.6(APC):c.6366A>T (p.Ala2122=)
|
rs370948574
|
0.00001
|
|
NM_000038.6(APC):c.6446A>C (p.His2149Pro)
|
rs749230730
|
0.00001
|
|
NM_000038.6(APC):c.646-8T>A
|
rs879254149
|
0.00001
|
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
|
NM_000038.6(APC):c.6491G>C (p.Gly2164Ala)
|
rs1490726940
|
0.00001
|
|
NM_000038.6(APC):c.6492C>T (p.Gly2164=)
|
rs765332758
|
0.00001
|
|
NM_000038.6(APC):c.6640A>G (p.Lys2214Glu)
|
rs1055951639
|
0.00001
|
|
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp)
|
rs374464049
|
0.00001
|
|
NM_000038.6(APC):c.6674C>G (p.Ser2225Cys)
|
rs759307079
|
0.00001
|
|
NM_000038.6(APC):c.6675T>C (p.Ser2225=)
|
rs950337714
|
0.00001
|
|
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser)
|
rs749507584
|
0.00001
|
|
NM_000038.6(APC):c.688C>T (p.Arg230Cys)
|
rs587779805
|
0.00001
|
|
NM_000038.6(APC):c.6896C>T (p.Pro2299Leu)
|
rs876658800
|
0.00001
|
|
NM_000038.6(APC):c.6948A>G (p.Pro2316=)
|
rs202144406
|
0.00001
|
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
|
NM_000038.6(APC):c.7012C>T (p.Pro2338Ser)
|
rs571304880
|
0.00001
|
|
NM_000038.6(APC):c.730-3C>A
|
rs786203125
|
0.00001
|
|
NM_000038.6(APC):c.730-9T>A
|
rs780218375
|
0.00001
|
|
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp)
|
rs587782127
|
0.00001
|
|
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro)
|
rs769889352
|
0.00001
|
|
NM_000038.6(APC):c.7479A>G (p.Leu2493=)
|
rs775954189
|
0.00001
|
|
NM_000038.6(APC):c.749A>G (p.His250Arg)
|
rs774296531
|
0.00001
|
|
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)
|
rs774952444
|
0.00001
|
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
|
NM_000038.6(APC):c.7654A>T (p.Ser2552Cys)
|
rs1554088567
|
0.00001
|
|
NM_000038.6(APC):c.771T>C (p.Ala257=)
|
rs1554076169
|
0.00001
|
|
NM_000038.6(APC):c.775C>T (p.Arg259Trp)
|
rs762117133
|
0.00001
|
|
NM_000038.6(APC):c.7793C>A (p.Thr2598Asn)
|
rs747339588
|
0.00001
|
|
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)
|
rs878853471
|
0.00001
|
|
NM_000038.6(APC):c.7877C>T (p.Thr2626Ile)
|
rs730881268
|
0.00001
|
|
NM_000038.6(APC):c.8008A>C (p.Arg2670=)
|
rs756875223
|
0.00001
|
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
|
NM_000038.6(APC):c.8100T>C (p.Asn2700=)
|
rs761326128
|
0.00001
|
|
NM_000038.6(APC):c.8182G>A (p.Val2728Met)
|
rs587778045
|
0.00001
|
|
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr)
|
rs863224552
|
0.00001
|
|
NM_000038.6(APC):c.8233C>A (p.Pro2745Thr)
|
rs587779809
|
0.00001
|
|
NM_000038.6(APC):c.8276G>A (p.Arg2759His)
|
rs538289470
|
0.00001
|
|
NM_000038.6(APC):c.8378G>A (p.Ser2793Asn)
|
rs374853436
|
0.00001
|
|
NM_000038.6(APC):c.8390G>A (p.Ser2797Asn)
|
rs1060503339
|
0.00001
|
|
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala)
|
rs587780608
|
0.00001
|
|
NM_000038.6(APC):c.918T>G (p.Ser306Arg)
|
rs730881231
|
0.00001
|
|
NM_000038.6(APC):c.989T>C (p.Met330Thr)
|
rs1554079959
|
0.00001
|
|
NM_000038.6(APC):c.993G>A (p.Ser331=)
|
rs148343173
|
0.00001
|
|
NM_000039.3(APOA1):c.201-9A>G
|
rs377207262
|
0.00001
|
|
NM_000039.3(APOA1):c.275C>T (p.Thr92Ile)
|
rs766422306
|
0.00001
|
|
NM_000044.6(AR):c.1175C>G (p.Pro392Arg)
|
rs773996740
|
0.00001
|
|
NM_000044.6(AR):c.2612C>T (p.Ala871Val)
|
rs143040492
|
0.00001
|
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
|
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)
|
rs371886102
|
0.00001
|
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
|
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)
|
rs886062406
|
0.00001
|
|
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg)
|
rs1301059768
|
0.00001
|
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
|
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)
|
rs727503812
|
0.00001
|
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
|
NM_000049.4(ASPA):c.432G>A (p.Lys144=)
|
rs754087904
|
0.00001
|
|
NM_000049.4(ASPA):c.503G>A (p.Arg168His)
|
rs770706390
|
0.00001
|
|
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)
|
rs1014551540
|
0.00001
|
|
NM_000049.4(ASPA):c.634+1G>T
|
rs753871454
|
0.00001
|
|
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu)
|
rs528179434
|
0.00001
|
|
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)
|
rs377217076
|
0.00001
|
|
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)
|
rs774323189
|
0.00001
|
|
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp)
|
rs745832703
|
0.00001
|
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
|
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)
|
rs587779811
|
0.00001
|
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
|
NM_000051.4(ATM):c.138T>C (p.His46=)
|
rs770834907
|
0.00001
|
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
|
NM_000051.4(ATM):c.1471A>G (p.Thr491Ala)
|
rs1555071008
|
0.00001
|
|
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys)
|
rs750280306
|
0.00001
|
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
|
NM_000051.4(ATM):c.1608-8T>C
|
rs201110707
|
0.00001
|
|
NM_000051.4(ATM):c.1688T>G (p.Met563Arg)
|
rs750815208
|
0.00001
|
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
|
NM_000051.4(ATM):c.1741T>G (p.Leu581Val)
|
rs876659822
|
0.00001
|
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
|
NM_000051.4(ATM):c.1758G>A (p.Glu586=)
|
rs1555072017
|
0.00001
|
|
NM_000051.4(ATM):c.1814A>G (p.His605Arg)
|
rs771877351
|
0.00001
|
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
|
NM_000051.4(ATM):c.185+10T>C
|
rs1555054317
|
0.00001
|
|
NM_000051.4(ATM):c.185+8A>G
|
rs753891198
|
0.00001
|
|
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)
|
rs546087885
|
0.00001
|
|
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
|
rs772393149
|
0.00001
|
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
0.00001
|
|
NM_000051.4(ATM):c.2238C>T (p.Phe746=)
|
rs786203595
|
0.00001
|
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
|
NM_000051.4(ATM):c.2373C>T (p.Thr791=)
|
rs878853494
|
0.00001
|
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
|
NM_000051.4(ATM):c.238C>T (p.Pro80Ser)
|
rs750597831
|
0.00001
|
|
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
|
NM_000051.4(ATM):c.2577C>T (p.Asn859=)
|
rs730881286
|
0.00001
|
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
|
NM_000051.4(ATM):c.2635A>G (p.Ile879Val)
|
rs556598169
|
0.00001
|
|
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe)
|
rs730881351
|
0.00001
|
|
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
|
NM_000051.4(ATM):c.2879C>A (p.Pro960His)
|
rs587779828
|
0.00001
|
|
NM_000051.4(ATM):c.2889G>A (p.Met963Ile)
|
rs35098825
|
0.00001
|
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
|
NM_000051.4(ATM):c.2934T>G (p.Ser978=)
|
rs368678134
|
0.00001
|
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
|
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr)
|
rs1421074475
|
0.00001
|
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
|
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)
|
rs971770683
|
0.00001
|
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
|
NM_000051.4(ATM):c.3303G>A (p.Lys1101=)
|
rs925487325
|
0.00001
|
|
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
|
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg)
|
rs587781911
|
0.00001
|
|
NM_000051.4(ATM):c.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
|
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)
|
rs1060501625
|
0.00001
|
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
|
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
|
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe)
|
rs2082378278
|
0.00001
|
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
|
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
|
NM_000051.4(ATM):c.4056T>C (p.His1352=)
|
rs587780622
|
0.00001
|
|
NM_000051.4(ATM):c.4071T>C (p.Ser1357=)
|
rs767516955
|
0.00001
|
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
|
NM_000051.4(ATM):c.4109+10T>C
|
rs1236628481
|
0.00001
|
|
NM_000051.4(ATM):c.4110-9C>A
|
rs730881367
|
0.00001
|
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
|
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)
|
rs749180334
|
0.00001
|
|
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
|
NM_000051.4(ATM):c.4236+8T>C
|
rs765636697
|
0.00001
|
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
|
NM_000051.4(ATM):c.42A>G (p.Gln14=)
|
rs771378101
|
0.00001
|
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
|
NM_000051.4(ATM):c.4401C>T (p.Asp1467=)
|
rs876660356
|
0.00001
|
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
|
NM_000051.4(ATM):c.4611+9C>G
|
rs760704159
|
0.00001
|
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
|
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)
|
rs587782037
|
0.00001
|
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
|
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)
|
rs786203857
|
0.00001
|
|
NM_000051.4(ATM):c.488A>G (p.Gln163Arg)
|
rs876660598
|
0.00001
|
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
|
NM_000051.4(ATM):c.5005+9C>T
|
rs730881291
|
0.00001
|
|
NM_000051.4(ATM):c.5055C>T (p.Thr1685=)
|
rs587780551
|
0.00001
|
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
|
NM_000051.4(ATM):c.5310A>G (p.Ser1770=)
|
rs1060504282
|
0.00001
|
|
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
|
NM_000051.4(ATM):c.5595T>C (p.His1865=)
|
rs772261410
|
0.00001
|
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
|
NM_000051.4(ATM):c.5634G>A (p.Ser1878=)
|
rs767070325
|
0.00001
|
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
|
NM_000051.4(ATM):c.5661A>G (p.Ala1887=)
|
rs876658939
|
0.00001
|
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
|
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)
|
rs765027485
|
0.00001
|
|
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)
|
rs377289524
|
0.00001
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
|
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)
|
rs1060501652
|
0.00001
|
|
NM_000051.4(ATM):c.6006+8T>C
|
rs56019194
|
0.00001
|
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
0.00001
|
|
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)
|
rs876658415
|
0.00001
|
|
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu)
|
rs1486220915
|
0.00001
|
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
|
NM_000051.4(ATM):c.6095+8G>T
|
rs547072690
|
0.00001
|
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
|
NM_000051.4(ATM):c.6121A>G (p.Met2041Val)
|
rs759753186
|
0.00001
|
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
|
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro)
|
rs587779854
|
0.00001
|
|
NM_000051.4(ATM):c.6250T>C (p.Leu2084=)
|
rs772608345
|
0.00001
|
|
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)
|
rs730881380
|
0.00001
|
|
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
|
NM_000051.4(ATM):c.640T>C (p.Ser214Pro)
|
rs747053710
|
0.00001
|
|
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu)
|
rs780299607
|
0.00001
|
|
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)
|
rs768155385
|
0.00001
|
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
|
NM_000051.4(ATM):c.6558G>A (p.Gly2186=)
|
rs1555117263
|
0.00001
|
|
NM_000051.4(ATM):c.655T>C (p.Cys219Arg)
|
rs771685059
|
0.00001
|
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
|
NM_000051.4(ATM):c.663-8C>A
|
rs1060501661
|
0.00001
|
|
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)
|
rs749261367
|
0.00001
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000051.4(ATM):c.6700C>T (p.Leu2234=)
|
rs760602228
|
0.00001
|
|
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)
|
rs876658607
|
0.00001
|
|
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)
|
rs1060501602
|
0.00001
|
|
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro)
|
rs587781674
|
0.00001
|
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
|
NM_000051.4(ATM):c.6846T>C (p.Asn2282=)
|
rs541718119
|
0.00001
|
|
NM_000051.4(ATM):c.6925C>T (p.Leu2309=)
|
rs763839047
|
0.00001
|
|
NM_000051.4(ATM):c.6966C>T (p.Ser2322=)
|
rs864622593
|
0.00001
|
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
|
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)
|
rs1305313302
|
0.00001
|
|
NM_000051.4(ATM):c.702A>G (p.Ala234=)
|
rs752751588
|
0.00001
|
|
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp)
|
rs767494363
|
0.00001
|
|
NM_000051.4(ATM):c.7116T>C (p.Asp2372=)
|
rs3218675
|
0.00001
|
|
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp)
|
rs376159946
|
0.00001
|
|
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
|
NM_000051.4(ATM):c.7383C>T (p.Arg2461=)
|
rs1429991894
|
0.00001
|
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
|
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)
|
rs753262623
|
0.00001
|
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
|
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr)
|
rs940285361
|
0.00001
|
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
0.00001
|
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
|
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)
|
rs745775382
|
0.00001
|
|
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
|
NM_000051.4(ATM):c.8019C>T (p.His2673=)
|
rs1181283176
|
0.00001
|
|
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)
|
rs766730487
|
0.00001
|
|
NM_000051.4(ATM):c.8109T>C (p.Asp2703=)
|
rs201689025
|
0.00001
|
|
NM_000051.4(ATM):c.8178T>C (p.Ala2726=)
|
rs367575159
|
0.00001
|
|
NM_000051.4(ATM):c.8217G>A (p.Leu2739=)
|
rs759069006
|
0.00001
|
|
NM_000051.4(ATM):c.8229G>A (p.Thr2743=)
|
rs150603052
|
0.00001
|
|
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala)
|
rs764003317
|
0.00001
|
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
|
NM_000051.4(ATM):c.8355T>C (p.Asp2785=)
|
rs372834825
|
0.00001
|
|
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser)
|
rs1010206130
|
0.00001
|
|
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His)
|
rs1020805015
|
0.00001
|
|
NM_000051.4(ATM):c.8385T>C (p.Asp2795=)
|
rs1251164631
|
0.00001
|
|
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)
|
rs938431501
|
0.00001
|
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
|
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)
|
rs756230327
|
0.00001
|
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
|
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)
|
rs786203415
|
0.00001
|
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
|
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)
|
rs786202223
|
0.00001
|
|
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp)
|
rs748192003
|
0.00001
|
|
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile)
|
rs587780643
|
0.00001
|
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
|
NM_000051.4(ATM):c.876G>A (p.Pro292=)
|
rs755860432
|
0.00001
|
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
|
NM_000051.4(ATM):c.8847A>G (p.Val2949=)
|
rs876658820
|
0.00001
|
|
NM_000051.4(ATM):c.8848G>A (p.Glu2950Lys)
|
rs898091069
|
0.00001
|
|
NM_000051.4(ATM):c.8850+10T>C
|
rs762487236
|
0.00001
|
|
NM_000051.4(ATM):c.8922G>A (p.Pro2974=)
|
rs527248759
|
0.00001
|
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
|
NM_000051.4(ATM):c.931A>G (p.Ile311Val)
|
rs876658322
|
0.00001
|
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
|
NM_000051.4(ATM):c.97C>T (p.Leu33=)
|
rs1057522542
|
0.00001
|
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
|
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met)
|
rs782018636
|
0.00001
|
|
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser)
|
rs766943890
|
0.00001
|
|
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)
|
rs770903362
|
0.00001
|
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
|
NM_000053.4(ATP7B):c.1708-1G>C
|
rs137853280
|
0.00001
|
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
|
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)
|
rs780327716
|
0.00001
|
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
|
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)
|
rs767218895
|
0.00001
|
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
|
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys)
|
rs756883878
|
0.00001
|
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
|
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)
|
rs768671894
|
0.00001
|
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
|
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)
|
rs1230241288
|
0.00001
|
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
|
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser)
|
rs767877891
|
0.00001
|
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
0.00001
|
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
|
NM_000053.4(ATP7B):c.3060+5G>T
|
rs1353373400
|
0.00001
|
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
|
NM_000053.4(ATP7B):c.3556+1G>A
|
rs184388696
|
0.00001
|
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
|
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser)
|
rs745918596
|
0.00001
|
|
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe)
|
rs193922108
|
0.00001
|
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
|
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)
|
rs373748155
|
0.00001
|
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
|
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)
|
rs1555282316
|
0.00001
|
|
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe)
|
rs551275663
|
0.00001
|
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
|
NM_000053.4(ATP7B):c.618T>C (p.Phe206=)
|
rs764353593
|
0.00001
|
|
NM_000054.7(AVPR2):c.410G>A (p.Arg137His)
|
rs104894756
|
0.00001
|
|
NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys)
|
rs193922123
|
0.00001
|
|
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
|
rs121918557
|
0.00001
|
|
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)
|
rs745364489
|
0.00001
|
|
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)
|
rs115624085
|
0.00001
|
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
|
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)
|
rs764182382
|
0.00001
|
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
|
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu)
|
rs767638712
|
0.00001
|
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
|
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)
|
rs1244649224
|
0.00001
|
|
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe)
|
rs1469527799
|
0.00001
|
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
|
NM_000057.4(BLM):c.44G>A (p.Arg15His)
|
rs752755503
|
0.00001
|
|
NM_000057.4(BLM):c.711C>T (p.Cys237=)
|
rs752961612
|
0.00001
|
|
NM_000059.4(BRCA2):c.-9T>C
|
rs276174802
|
0.00001
|
|
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=)
|
rs113507014
|
0.00001
|
|
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)
|
rs28897761
|
0.00001
|
|
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln)
|
rs544942885
|
0.00001
|
|
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)
|
rs80358388
|
0.00001
|
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
|
NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys)
|
rs730881584
|
0.00001
|
|
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)
|
rs535952730
|
0.00001
|
|
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)
|
rs542343726
|
0.00001
|
|
NM_000059.4(BRCA2):c.1059A>G (p.Ser353=)
|
rs730881585
|
0.00001
|
|
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)
|
rs730881554
|
0.00001
|
|
NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu)
|
rs730881578
|
0.00001
|
|
NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser)
|
rs886040345
|
0.00001
|
|
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu)
|
rs80358409
|
0.00001
|
|
NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser)
|
rs80358410
|
0.00001
|
|
NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp)
|
rs777845659
|
0.00001
|
|
NM_000059.4(BRCA2):c.1141G>A (p.Asp381Asn)
|
rs398122723
|
0.00001
|
|
NM_000059.4(BRCA2):c.1153A>C (p.Lys385Gln)
|
rs80358411
|
0.00001
|
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
|
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly)
|
rs1005568368
|
0.00001
|
|
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)
|
rs80358416
|
0.00001
|
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
|
NM_000059.4(BRCA2):c.1279G>C (p.Asp427His)
|
rs147797288
|
0.00001
|
|
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)
|
rs80358420
|
0.00001
|
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
|
NM_000059.4(BRCA2):c.1371G>A (p.Lys457=)
|
rs786202479
|
0.00001
|
|
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys)
|
rs587782159
|
0.00001
|
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
|
NM_000059.4(BRCA2):c.1452A>G (p.Val484=)
|
rs753601570
|
0.00001
|
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
|
NM_000059.4(BRCA2):c.1554A>T (p.Ala518=)
|
rs786201487
|
0.00001
|
|
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)
|
rs80358441
|
0.00001
|
|
NM_000059.4(BRCA2):c.1584C>T (p.Asn528=)
|
rs730881587
|
0.00001
|
|
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)
|
rs781763239
|
0.00001
|
|
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)
|
rs276174810
|
0.00001
|
|
NM_000059.4(BRCA2):c.1659A>G (p.Leu553=)
|
rs786201343
|
0.00001
|
|
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys)
|
rs397507274
|
0.00001
|
|
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe)
|
rs587778118
|
0.00001
|
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
|
NM_000059.4(BRCA2):c.1775A>G (p.Tyr592Cys)
|
rs772156559
|
0.00001
|
|
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)
|
rs80358464
|
0.00001
|
|
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val)
|
rs398122732
|
0.00001
|
|
NM_000059.4(BRCA2):c.180C>T (p.Asn60=)
|
rs1131692130
|
0.00001
|
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
|
NM_000059.4(BRCA2):c.1818G>A (p.Pro606=)
|
rs76844014
|
0.00001
|
|
NM_000059.4(BRCA2):c.181C>G (p.Leu61Val)
|
rs771011731
|
0.00001
|
|
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser)
|
rs773619645
|
0.00001
|
|
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala)
|
rs398122736
|
0.00001
|
|
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=)
|
rs755049218
|
0.00001
|
|
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly)
|
rs587781647
|
0.00001
|
|
NM_000059.4(BRCA2):c.2092del (p.Leu698fs)
|
rs80359322
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)
|
rs554040246
|
0.00001
|
|
NM_000059.4(BRCA2):c.2133C>T (p.Cys711=)
|
rs535547513
|
0.00001
|
|
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)
|
rs276174818
|
0.00001
|
|
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu)
|
rs431825294
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
|
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln)
|
rs587782158
|
0.00001
|
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
rs780489283
|
0.00001
|
|
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile)
|
rs587779360
|
0.00001
|
|
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)
|
rs768143929
|
0.00001
|
|
NM_000059.4(BRCA2):c.2380A>G (p.Met794Val)
|
rs786203635
|
0.00001
|
|
NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)
|
rs80358505
|
0.00001
|
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
|
NM_000059.4(BRCA2):c.2429C>T (p.Thr810Ile)
|
rs80358509
|
0.00001
|
|
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)
|
rs786203814
|
0.00001
|
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
|
NM_000059.4(BRCA2):c.2451G>T (p.Lys817Asn)
|
rs767686668
|
0.00001
|
|
NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser)
|
rs397507631
|
0.00001
|
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
rs397507287
|
0.00001
|
|
NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)
|
rs397507288
|
0.00001
|
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
rs587782454
|
0.00001
|
|
NM_000059.4(BRCA2):c.2547A>G (p.Val849=)
|
rs1321983932
|
0.00001
|
|
NM_000059.4(BRCA2):c.2554A>C (p.Asn852His)
|
rs775531301
|
0.00001
|
|
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=)
|
rs730881589
|
0.00001
|
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
|
NM_000059.4(BRCA2):c.2633A>T (p.Asp878Val)
|
rs765618026
|
0.00001
|
|
NM_000059.4(BRCA2):c.263T>G (p.Leu88Arg)
|
rs80358525
|
0.00001
|
|
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)
|
rs55736268
|
0.00001
|
|
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg)
|
rs760792501
|
0.00001
|
|
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=)
|
rs276174829
|
0.00001
|
|
NM_000059.4(BRCA2):c.2754C>T (p.Asn918=)
|
rs753073979
|
0.00001
|
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
|
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=)
|
rs367921107
|
0.00001
|
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
|
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)
|
rs55972907
|
0.00001
|
|
NM_000059.4(BRCA2):c.2841G>T (p.Leu947Phe)
|
rs769971508
|
0.00001
|
|
NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)
|
rs80358535
|
0.00001
|
|
NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu)
|
rs876659267
|
0.00001
|
|
NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu)
|
rs80358538
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00001
|
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
rs398122756
|
0.00001
|
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
|
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)
|
rs1555282969
|
0.00001
|
|
NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr)
|
rs587782223
|
0.00001
|
|
NM_000059.4(BRCA2):c.298A>G (p.Lys100Glu)
|
rs80358546
|
0.00001
|
|
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)
|
rs80358547
|
0.00001
|
|
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)
|
rs730881518
|
0.00001
|
|
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp)
|
rs878853565
|
0.00001
|
|
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val)
|
rs755227053
|
0.00001
|
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
|
NM_000059.4(BRCA2):c.3111A>G (p.Gln1037=)
|
rs786202967
|
0.00001
|
|
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)
|
rs41293477
|
0.00001
|
|
NM_000059.4(BRCA2):c.316+18G>A
|
rs760439858
|
0.00001
|
|
NM_000059.4(BRCA2):c.317-10A>G
|
rs81002824
|
0.00001
|
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
rs775030825
|
0.00001
|
|
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe)
|
rs80358563
|
0.00001
|
|
NM_000059.4(BRCA2):c.3238G>C (p.Asp1080His)
|
rs1064794159
|
0.00001
|
|
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)
|
rs80358569
|
0.00001
|
|
NM_000059.4(BRCA2):c.324T>C (p.Asn108=)
|
rs772010158
|
0.00001
|
|
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
|
rs543748012
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg)
|
rs398122761
|
0.00001
|
|
NM_000059.4(BRCA2):c.3309A>G (p.Leu1103=)
|
rs786203980
|
0.00001
|
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
|
NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys)
|
rs879255448
|
0.00001
|
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
rs56242644
|
0.00001
|
|
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs)
|
rs397507668
|
0.00001
|
|
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val)
|
rs80358591
|
0.00001
|
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
|
NM_000059.4(BRCA2):c.3482A>G (p.Asp1161Gly)
|
rs1060502458
|
0.00001
|
|
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)
|
rs776655838
|
0.00001
|
|
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)
|
rs80358597
|
0.00001
|
|
NM_000059.4(BRCA2):c.3552T>C (p.Gly1184=)
|
rs1456426299
|
0.00001
|
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
rs202230438
|
0.00001
|
|
NM_000059.4(BRCA2):c.3635A>T (p.Asn1212Ile)
|
rs80358609
|
0.00001
|
|
NM_000059.4(BRCA2):c.3640G>A (p.Val1214Met)
|
rs1015087797
|
0.00001
|
|
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)
|
rs80358611
|
0.00001
|
|
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr)
|
rs786203756
|
0.00001
|
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
|
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=)
|
rs276174835
|
0.00001
|
|
NM_000059.4(BRCA2):c.3693T>C (p.Thr1231=)
|
rs751232859
|
0.00001
|
|
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=)
|
rs141196976
|
0.00001
|
|
NM_000059.4(BRCA2):c.3720G>A (p.Leu1240=)
|
rs773240495
|
0.00001
|
|
NM_000059.4(BRCA2):c.3731T>C (p.Ile1244Thr)
|
rs730881526
|
0.00001
|
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
|
NM_000059.4(BRCA2):c.378A>G (p.Gln126=)
|
rs786201593
|
0.00001
|
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
|
NM_000059.4(BRCA2):c.3874C>T (p.Leu1292=)
|
rs587780867
|
0.00001
|
|
NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser)
|
rs779899032
|
0.00001
|
|
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys)
|
rs80358647
|
0.00001
|
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
|
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)
|
rs276174840
|
0.00001
|
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
|
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr)
|
rs80358654
|
0.00001
|
|
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro)
|
rs138567364
|
0.00001
|
|
NM_000059.4(BRCA2):c.4137G>A (p.Gln1379=)
|
rs768918982
|
0.00001
|
|
NM_000059.4(BRCA2):c.413G>T (p.Cys138Phe)
|
rs397507324
|
0.00001
|
|
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=)
|
rs770531115
|
0.00001
|
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
|
NM_000059.4(BRCA2):c.4242G>T (p.Thr1414=)
|
rs750495335
|
0.00001
|
|
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)
|
rs1060502399
|
0.00001
|
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
|
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)
|
rs587782795
|
0.00001
|
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
rs80358667
|
0.00001
|
|
NM_000059.4(BRCA2):c.4344T>G (p.Asn1448Lys)
|
rs1064793724
|
0.00001
|
|
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)
|
rs80358672
|
0.00001
|
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
|
NM_000059.4(BRCA2):c.438A>G (p.Leu146=)
|
rs200942633
|
0.00001
|
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
|
NM_000059.4(BRCA2):c.4443G>A (p.Glu1481=)
|
rs876659618
|
0.00001
|
|
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)
|
rs80359452
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4494T>A (p.Gly1498=)
|
rs373160367
|
0.00001
|
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
|
NM_000059.4(BRCA2):c.4561C>T (p.Leu1521=)
|
rs370723514
|
0.00001
|
|
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg)
|
rs587781418
|
0.00001
|
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
|
NM_000059.4(BRCA2):c.459A>G (p.Pro153=)
|
rs786201631
|
0.00001
|
|
NM_000059.4(BRCA2):c.4622A>G (p.Lys1541Arg)
|
rs747899091
|
0.00001
|
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
rs587782822
|
0.00001
|
|
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)
|
rs587782522
|
0.00001
|
|
NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=)
|
rs750813972
|
0.00001
|
|
NM_000059.4(BRCA2):c.4699C>T (p.Leu1567=)
|
rs146514381
|
0.00001
|
|
NM_000059.4(BRCA2):c.4718G>A (p.Cys1573Tyr)
|
rs56249050
|
0.00001
|
|
NM_000059.4(BRCA2):c.4725C>T (p.Asp1575=)
|
rs752402938
|
0.00001
|
|
NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val)
|
rs56072130
|
0.00001
|
|
NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe)
|
rs56072130
|
0.00001
|
|
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)
|
rs56137239
|
0.00001
|
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
rs149759218
|
0.00001
|
|
NM_000059.4(BRCA2):c.4803T>C (p.Asp1601=)
|
rs772234613
|
0.00001
|
|
NM_000059.4(BRCA2):c.4833G>A (p.Val1611=)
|
rs1057521872
|
0.00001
|
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
|
NM_000059.4(BRCA2):c.4858T>C (p.Leu1620=)
|
rs528771743
|
0.00001
|
|
NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly)
|
rs1060502419
|
0.00001
|
|
NM_000059.4(BRCA2):c.4881C>G (p.Leu1627=)
|
rs756104738
|
0.00001
|
|
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)
|
rs80358711
|
0.00001
|
|
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)
|
rs398122787
|
0.00001
|
|
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu)
|
rs587781763
|
0.00001
|
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
|
NM_000059.4(BRCA2):c.5035A>C (p.Thr1679Pro)
|
rs80358728
|
0.00001
|
|
NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn)
|
rs41293493
|
0.00001
|
|
NM_000059.4(BRCA2):c.5144T>C (p.Leu1715Ser)
|
rs1064793634
|
0.00001
|
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
rs80358739
|
0.00001
|
|
NM_000059.4(BRCA2):c.516+17G>C
|
rs765435155
|
0.00001
|
|
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)
|
rs80359490
|
0.00001
|
|
NM_000059.4(BRCA2):c.517-11T>C
|
rs81002828
|
0.00001
|
|
NM_000059.4(BRCA2):c.517-17A>G
|
rs1060504603
|
0.00001
|
|
NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr)
|
rs772860507
|
0.00001
|
|
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)
|
rs80358745
|
0.00001
|
|
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)
|
rs786202543
|
0.00001
|
|
NM_000059.4(BRCA2):c.5217T>C (p.Tyr1739=)
|
rs80358746
|
0.00001
|
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp)
|
rs80358750
|
0.00001
|
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
|
NM_000059.4(BRCA2):c.5289C>T (p.Leu1763=)
|
rs763052573
|
0.00001
|
|
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)
|
rs183478654
|
0.00001
|
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
rs80358757
|
0.00001
|
|
NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met)
|
rs1060502406
|
0.00001
|
|
NM_000059.4(BRCA2):c.5379T>C (p.Asn1793=)
|
rs146917776
|
0.00001
|
|
NM_000059.4(BRCA2):c.53G>A (p.Arg18His)
|
rs80358762
|
0.00001
|
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
|
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=)
|
rs372951842
|
0.00001
|
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
|
NM_000059.4(BRCA2):c.5553C>G (p.Ile1851Met)
|
rs573514896
|
0.00001
|
|
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn)
|
rs587781536
|
0.00001
|
|
NM_000059.4(BRCA2):c.562G>A (p.Val188Met)
|
rs1555281063
|
0.00001
|
|
NM_000059.4(BRCA2):c.5652T>C (p.Ile1884=)
|
rs766067138
|
0.00001
|
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
rs80358791
|
0.00001
|
|
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys)
|
rs146351301
|
0.00001
|
|
NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly)
|
rs876658786
|
0.00001
|
|
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg)
|
rs80358796
|
0.00001
|
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
|
NM_000059.4(BRCA2):c.5730T>C (p.Asn1910=)
|
rs1555284381
|
0.00001
|
|
NM_000059.4(BRCA2):c.5745G>A (p.Thr1915=)
|
rs1799953
|
0.00001
|
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
|
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys)
|
rs56253082
|
0.00001
|
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
|
NM_000059.4(BRCA2):c.5880T>C (p.Cys1960=)
|
rs368055906
|
0.00001
|
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
rs1060502377
|
0.00001
|
|
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu)
|
rs587782597
|
0.00001
|
|
NM_000059.4(BRCA2):c.5928G>T (p.Gly1976=)
|
rs752858082
|
0.00001
|
|
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
|
rs387907575
|
0.00001
|
|
NM_000059.4(BRCA2):c.5973T>G (p.Ala1991=)
|
rs876660687
|
0.00001
|
|
NM_000059.4(BRCA2):c.5979A>G (p.Leu1993=)
|
rs773999877
|
0.00001
|
|
NM_000059.4(BRCA2):c.5988A>G (p.Ala1996=)
|
rs773045221
|
0.00001
|
|
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile)
|
rs587781402
|
0.00001
|
|
NM_000059.4(BRCA2):c.6012A>G (p.Glu2004=)
|
rs572976024
|
0.00001
|
|
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu)
|
rs80358840
|
0.00001
|
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
|
NM_000059.4(BRCA2):c.606C>T (p.Pro202=)
|
rs747726394
|
0.00001
|
|
NM_000059.4(BRCA2):c.6097A>G (p.Ile2033Val)
|
rs772846629
|
0.00001
|
|
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)
|
rs370026879
|
0.00001
|
|
NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe)
|
rs1566233950
|
0.00001
|
|
NM_000059.4(BRCA2):c.6118A>G (p.Ile2040Val)
|
rs80358850
|
0.00001
|
|
NM_000059.4(BRCA2):c.6121T>C (p.Ser2041Pro)
|
rs1160083526
|
0.00001
|
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
|
NM_000059.4(BRCA2):c.6189A>G (p.Gly2063=)
|
rs1367271077
|
0.00001
|
|
NM_000059.4(BRCA2):c.619A>G (p.Thr207Ala)
|
rs80358858
|
0.00001
|
|
NM_000059.4(BRCA2):c.620C>T (p.Thr207Ile)
|
rs41293471
|
0.00001
|
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
|
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)
|
rs767567428
|
0.00001
|
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
|
NM_000059.4(BRCA2):c.6268C>T (p.His2090Tyr)
|
rs1405631299
|
0.00001
|
|
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg)
|
rs398122550
|
0.00001
|
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
rs397507838
|
0.00001
|
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
|
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=)
|
rs372527810
|
0.00001
|
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
|
NM_000059.4(BRCA2):c.6327T>C (p.Val2109=)
|
rs876660313
|
0.00001
|
|
NM_000059.4(BRCA2):c.636A>G (p.Arg212=)
|
rs950724350
|
0.00001
|
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
|
NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His)
|
rs80358876
|
0.00001
|
|
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp)
|
rs80358877
|
0.00001
|
|
NM_000059.4(BRCA2):c.6442T>G (p.Ser2148Ala)
|
rs1314863621
|
0.00001
|
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
|
NM_000059.4(BRCA2):c.6450A>C (p.Lys2150Asn)
|
rs876658814
|
0.00001
|
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
|
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)
|
rs765575482
|
0.00001
|
|
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=)
|
rs587780658
|
0.00001
|
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
|
NM_000059.4(BRCA2):c.6543A>T (p.Gly2181=)
|
rs1131692121
|
0.00001
|
|
NM_000059.4(BRCA2):c.6567C>T (p.Asn2189=)
|
rs397507374
|
0.00001
|
|
NM_000059.4(BRCA2):c.6582T>C (p.Ile2194=)
|
rs1178835711
|
0.00001
|
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
|
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)
|
rs75925841
|
0.00001
|
|
NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile)
|
rs1566235063
|
0.00001
|
|
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)
|
rs80359616
|
0.00001
|
|
NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala)
|
rs918816907
|
0.00001
|
|
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=)
|
rs28897741
|
0.00001
|
|
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp)
|
rs41293501
|
0.00001
|
|
NM_000059.4(BRCA2):c.67+13T>C
|
rs1555280121
|
0.00001
|
|
NM_000059.4(BRCA2):c.67+18A>G
|
rs1057524048
|
0.00001
|
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
|
NM_000059.4(BRCA2):c.6724G>A (p.Asp2242Asn)
|
rs786202002
|
0.00001
|
|
NM_000059.4(BRCA2):c.6750A>C (p.Thr2250=)
|
rs864622449
|
0.00001
|
|
NM_000059.4(BRCA2):c.6756T>C (p.Ser2252=)
|
rs1057521324
|
0.00001
|
|
NM_000059.4(BRCA2):c.6765A>G (p.Thr2255=)
|
rs759293475
|
0.00001
|
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
|
NM_000059.4(BRCA2):c.68-16T>A
|
rs397507882
|
0.00001
|
|
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr)
|
rs398122564
|
0.00001
|
|
NM_000059.4(BRCA2):c.6815G>A (p.Arg2272Lys)
|
rs199522406
|
0.00001
|
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
|
NM_000059.4(BRCA2):c.6842-11T>A
|
rs81002877
|
0.00001
|
|
NM_000059.4(BRCA2):c.6842-19A>G
|
rs81002865
|
0.00001
|
|
NM_000059.4(BRCA2):c.6868T>C (p.Leu2290=)
|
rs876660341
|
0.00001
|
|
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)
|
rs397507378
|
0.00001
|
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
|
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)
|
rs80358918
|
0.00001
|
|
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)
|
rs398122572
|
0.00001
|
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
|
NM_000059.4(BRCA2):c.6966G>T (p.Met2322Ile)
|
rs80358924
|
0.00001
|
|
NM_000059.4(BRCA2):c.6973G>C (p.Val2325Leu)
|
rs757647065
|
0.00001
|
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
rs80358925
|
0.00001
|
|
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala)
|
rs80358926
|
0.00001
|
|
NM_000059.4(BRCA2):c.7001C>T (p.Pro2334Leu)
|
rs748816192
|
0.00001
|
|
NM_000059.4(BRCA2):c.7005T>C (p.Phe2335=)
|
rs1261716229
|
0.00001
|
|
NM_000059.4(BRCA2):c.7022G>A (p.Arg2341His)
|
rs786202839
|
0.00001
|
|
NM_000059.4(BRCA2):c.7042A>C (p.Asn2348His)
|
rs55742659
|
0.00001
|
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
|
NM_000059.4(BRCA2):c.7066T>G (p.Phe2356Val)
|
rs863224596
|
0.00001
|
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
rs80358941
|
0.00001
|
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
rs80358946
|
0.00001
|
|
NM_000059.4(BRCA2):c.7182A>G (p.Arg2394=)
|
rs80359797
|
0.00001
|
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
|
NM_000059.4(BRCA2):c.7349A>T (p.Asn2450Ile)
|
rs761505767
|
0.00001
|
|
NM_000059.4(BRCA2):c.7390C>G (p.Gln2464Glu)
|
rs572945276
|
0.00001
|
|
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val)
|
rs80358960
|
0.00001
|
|
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile)
|
rs730881553
|
0.00001
|
|
NM_000059.4(BRCA2):c.7404A>C (p.Val2468=)
|
rs747117261
|
0.00001
|
|
NM_000059.4(BRCA2):c.7411A>G (p.Thr2471Ala)
|
rs771087264
|
0.00001
|
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
|
NM_000059.4(BRCA2):c.7438T>G (p.Leu2480Val)
|
rs80358965
|
0.00001
|
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
|
NM_000059.4(BRCA2):c.7472A>G (p.Gln2491Arg)
|
rs185012573
|
0.00001
|
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
rs80358973
|
0.00001
|
|
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)
|
rs80358974
|
0.00001
|
|
NM_000059.4(BRCA2):c.7509C>G (p.Val2503=)
|
rs766080516
|
0.00001
|
|
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=)
|
rs759383358
|
0.00001
|
|
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)
|
rs864622624
|
0.00001
|
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
|
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)
|
rs398122585
|
0.00001
|
|
NM_000059.4(BRCA2):c.7602G>A (p.Ala2534=)
|
rs81002826
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
rs398122586
|
0.00001
|
|
NM_000059.4(BRCA2):c.7638T>C (p.Ser2546=)
|
rs786202346
|
0.00001
|
|
NM_000059.4(BRCA2):c.7644T>C (p.His2548=)
|
rs971280622
|
0.00001
|
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
|
NM_000059.4(BRCA2):c.765C>T (p.Asn255=)
|
rs1052409683
|
0.00001
|
|
NM_000059.4(BRCA2):c.7671A>G (p.Ala2557=)
|
rs1057524178
|
0.00001
|
|
NM_000059.4(BRCA2):c.7683G>A (p.Gln2561=)
|
rs786201304
|
0.00001
|
|
NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp)
|
rs587781943
|
0.00001
|
|
NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter)
|
rs80358998
|
0.00001
|
|
NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg)
|
rs1064795508
|
0.00001
|
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
rs80359003
|
0.00001
|
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
|
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)
|
rs786202615
|
0.00001
|
|
NM_000059.4(BRCA2):c.7805+11C>A
|
rs1060504610
|
0.00001
|
|
NM_000059.4(BRCA2):c.7805+8A>G
|
rs81002847
|
0.00001
|
|
NM_000059.4(BRCA2):c.7806-6del
|
rs764374133
|
0.00001
|
|
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr)
|
rs397507393
|
0.00001
|
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)
|
rs1483187442
|
0.00001
|
|
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)
|
rs774723315
|
0.00001
|
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
|
NM_000059.4(BRCA2):c.793+18T>C
|
rs567889781
|
0.00001
|
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
rs431825360
|
0.00001
|
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
rs80359020
|
0.00001
|
|
NM_000059.4(BRCA2):c.7977-14G>A
|
rs879255467
|
0.00001
|
|
NM_000059.4(BRCA2):c.7977-15T>G
|
rs431825361
|
0.00001
|
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
|
NM_000059.4(BRCA2):c.7A>G (p.Ile3Val)
|
rs770479195
|
0.00001
|
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
|
NM_000059.4(BRCA2):c.8014A>G (p.Ile2672Val)
|
rs80359037
|
0.00001
|
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
|
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=)
|
rs776992904
|
0.00001
|
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
|
NM_000059.4(BRCA2):c.8086T>C (p.Leu2696=)
|
rs767912817
|
0.00001
|
|
NM_000059.4(BRCA2):c.8091C>T (p.Ser2697=)
|
rs140782158
|
0.00001
|
|
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)
|
rs80359053
|
0.00001
|
|
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=)
|
rs80359801
|
0.00001
|
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
|
NM_000059.4(BRCA2):c.8118T>C (p.Asn2706=)
|
rs758549180
|
0.00001
|
|
NM_000059.4(BRCA2):c.8119A>G (p.Lys2707Glu)
|
rs1046479731
|
0.00001
|
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
|
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=)
|
rs587780662
|
0.00001
|
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
|
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala)
|
rs587781719
|
0.00001
|
|
NM_000059.4(BRCA2):c.8186A>G (p.Lys2729Arg)
|
rs755946384
|
0.00001
|
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
|
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn)
|
rs397507399
|
0.00001
|
|
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln)
|
rs587776472
|
0.00001
|
|
NM_000059.4(BRCA2):c.8265A>T (p.Gly2755=)
|
rs781363913
|
0.00001
|
|
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)
|
rs768247528
|
0.00001
|
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
|
NM_000059.4(BRCA2):c.8298A>G (p.Thr2766=)
|
rs730881594
|
0.00001
|
|
NM_000059.4(BRCA2):c.8300C>G (p.Pro2767Arg)
|
rs397507401
|
0.00001
|
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
|
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=)
|
rs747664806
|
0.00001
|
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
|
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)
|
rs587782785
|
0.00001
|
|
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly)
|
rs80359090
|
0.00001
|
|
NM_000059.4(BRCA2):c.8435G>A (p.Gly2812Glu)
|
rs80359091
|
0.00001
|
|
NM_000059.4(BRCA2):c.8440A>G (p.Asn2814Asp)
|
rs876660312
|
0.00001
|
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
rs80359094
|
0.00001
|
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
|
NM_000059.4(BRCA2):c.8488-19G>A
|
rs398122607
|
0.00001
|
|
NM_000059.4(BRCA2):c.8488-20del
|
rs1566249132
|
0.00001
|
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
|
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys)
|
rs80359108
|
0.00001
|
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
rs80359109
|
0.00001
|
|
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro)
|
rs80359111
|
0.00001
|
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
|
NM_000059.4(BRCA2):c.8630A>G (p.Glu2877Gly)
|
rs1064794960
|
0.00001
|
|
NM_000059.4(BRCA2):c.8632+14T>C
|
rs730881596
|
0.00001
|
|
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)
|
rs80359122
|
0.00001
|
|
NM_000059.4(BRCA2):c.8667A>G (p.Ala2889=)
|
rs786203480
|
0.00001
|
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
|
NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly)
|
rs730881566
|
0.00001
|
|
NM_000059.4(BRCA2):c.8715T>C (p.Tyr2905=)
|
rs45555831
|
0.00001
|
|
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)
|
rs80359130
|
0.00001
|
|
NM_000059.4(BRCA2):c.8755-12A>G
|
rs863224317
|
0.00001
|
|
NM_000059.4(BRCA2):c.8755-17A>G
|
rs431825370
|
0.00001
|
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
|
NM_000059.4(BRCA2):c.8765G>A (p.Ser2922Asn)
|
rs730881567
|
0.00001
|
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
|
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)
|
rs80359141
|
0.00001
|
|
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)
|
rs587782021
|
0.00001
|
|
NM_000059.4(BRCA2):c.8904C>T (p.Thr2968=)
|
rs41293519
|
0.00001
|
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
rs80359142
|
0.00001
|
|
NM_000059.4(BRCA2):c.8979A>C (p.Ser2993=)
|
rs781452016
|
0.00001
|
|
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)
|
rs80359804
|
0.00001
|
|
NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly)
|
rs730881508
|
0.00001
|
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
|
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
|
rs80359164
|
0.00001
|
|
NM_000059.4(BRCA2):c.9102G>C (p.Gln3034His)
|
rs1336395181
|
0.00001
|
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
|
NM_000059.4(BRCA2):c.9118-18T>C
|
rs1555288527
|
0.00001
|
|
NM_000059.4(BRCA2):c.9118-2A>G
|
rs81002862
|
0.00001
|
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
|
NM_000059.4(BRCA2):c.918T>C (p.Asp306=)
|
rs184408918
|
0.00001
|
|
NM_000059.4(BRCA2):c.9222A>G (p.Leu3074=)
|
rs200635661
|
0.00001
|
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
|
NM_000059.4(BRCA2):c.9257-18C>A
|
rs81002807
|
0.00001
|
|
NM_000059.4(BRCA2):c.9257-20T>G
|
rs1223021680
|
0.00001
|
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
|
NM_000059.4(BRCA2):c.9301C>T (p.Leu3101=)
|
rs80359202
|
0.00001
|
|
NM_000059.4(BRCA2):c.9319A>G (p.Ile3107Val)
|
rs879255336
|
0.00001
|
|
NM_000059.4(BRCA2):c.9321A>C (p.Ile3107=)
|
rs876658703
|
0.00001
|
|
NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter)
|
rs397508047
|
0.00001
|
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
|
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)
|
rs397507428
|
0.00001
|
|
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=)
|
rs201172050
|
0.00001
|
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
|
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala)
|
rs786204284
|
0.00001
|
|
NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu)
|
rs80359221
|
0.00001
|
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
|
NM_000059.4(BRCA2):c.9501+16A>C
|
rs1555289626
|
0.00001
|
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
|
NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val)
|
rs377123889
|
0.00001
|
|
NM_000059.4(BRCA2):c.9560A>G (p.Asn3187Ser)
|
rs1329182873
|
0.00001
|
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
rs28897760
|
0.00001
|
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
|
NM_000059.4(BRCA2):c.963A>G (p.Gln321=)
|
rs276174927
|
0.00001
|
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
|
NM_000059.4(BRCA2):c.9687T>A (p.Pro3229=)
|
rs946380047
|
0.00001
|
|
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe)
|
rs80359238
|
0.00001
|
|
NM_000059.4(BRCA2):c.9718G>A (p.Val3240Ile)
|
rs80359240
|
0.00001
|
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
|
NM_000059.4(BRCA2):c.9735A>G (p.Ser3245=)
|
rs773112850
|
0.00001
|
|
NM_000059.4(BRCA2):c.9812T>C (p.Leu3271Ser)
|
rs397507436
|
0.00001
|
|
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)
|
rs431825380
|
0.00001
|
|
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=)
|
rs730881598
|
0.00001
|
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
rs80359246
|
0.00001
|
|
NM_000059.4(BRCA2):c.9864A>G (p.Thr3288=)
|
rs778401681
|
0.00001
|
|
NM_000059.4(BRCA2):c.987G>A (p.Arg329=)
|
rs561002197
|
0.00001
|
|
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)
|
rs80359249
|
0.00001
|
|
NM_000059.4(BRCA2):c.9972A>G (p.Pro3324=)
|
rs786201647
|
0.00001
|
|
NM_000061.3(BTK):c.*101del
|
rs1385972271
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)
|
rs148895719
|
0.00001
|
|
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)
|
rs190152688
|
0.00001
|
|
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
|
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)
|
rs750083132
|
0.00001
|
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
|
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)
|
rs774685118
|
0.00001
|
|
NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)
|
rs777829958
|
0.00001
|
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
|
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)
|
rs149591108
|
0.00001
|
|
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)
|
rs200580015
|
0.00001
|
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
|
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)
|
rs745764562
|
0.00001
|
|
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)
|
rs757920190
|
0.00001
|
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
|
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)
|
rs1347651454
|
0.00001
|
|
NM_000071.3(CBS):c.684C>G (p.Asn228Lys)
|
rs1464223176
|
0.00001
|
|
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
|
rs121964969
|
0.00001
|
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
|
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter)
|
rs1948391148
|
0.00001
|
|
NM_000075.4(CDK4):c.155G>A (p.Ser52Asn)
|
rs760719270
|
0.00001
|
|
NM_000075.4(CDK4):c.219-10C>T
|
rs759302811
|
0.00001
|
|
NM_000075.4(CDK4):c.219-7T>C
|
rs543798269
|
0.00001
|
|
NM_000075.4(CDK4):c.222G>A (p.Leu74=)
|
rs565645344
|
0.00001
|
|
NM_000075.4(CDK4):c.346A>G (p.Thr116Ala)
|
rs2063052002
|
0.00001
|
|
NM_000075.4(CDK4):c.352A>C (p.Lys118Gln)
|
rs772689692
|
0.00001
|
|
NM_000075.4(CDK4):c.385G>A (p.Asp129Asn)
|
rs876660606
|
0.00001
|
|
NM_000075.4(CDK4):c.481C>T (p.Leu161=)
|
rs796860515
|
0.00001
|
|
NM_000075.4(CDK4):c.519C>T (p.Pro173=)
|
rs747084709
|
0.00001
|
|
NM_000075.4(CDK4):c.523-4T>A
|
rs587780667
|
0.00001
|
|
NM_000075.4(CDK4):c.605G>C (p.Cys202Ser)
|
rs1424791303
|
0.00001
|
|
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln)
|
rs373619077
|
0.00001
|
|
NM_000075.4(CDK4):c.645T>C (p.Cys215=)
|
rs751861614
|
0.00001
|
|
NM_000075.4(CDK4):c.777G>A (p.Ser259=)
|
rs3211622
|
0.00001
|
|
NM_000075.4(CDK4):c.801G>A (p.Ser267=)
|
rs201744062
|
0.00001
|
|
NM_000075.4(CDK4):c.841C>G (p.His281Asp)
|
rs876659522
|
0.00001
|
|
NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr)
|
rs777948908
|
0.00001
|
|
NM_000077.5(CDKN2A):c.151-4G>C
|
rs529380972
|
0.00001
|
|
NM_000077.5(CDKN2A):c.258C>T (p.Ala86=)
|
rs1001405220
|
0.00001
|
|
NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)
|
rs759871071
|
0.00001
|
|
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His)
|
rs370823171
|
0.00001
|
|
NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu)
|
rs779913365
|
0.00001
|
|
NM_000077.5(CDKN2A):c.375T>A (p.Asp125Glu)
|
rs1290057397
|
0.00001
|
|
NM_000077.5(CDKN2A):c.402G>T (p.Ala134=)
|
rs878853649
|
0.00001
|
|
NM_000077.5(CDKN2A):c.412A>G (p.Arg138Gly)
|
rs145012438
|
0.00001
|
|
NM_000077.5(CDKN2A):c.416G>A (p.Gly139Asp)
|
rs149937815
|
0.00001
|
|
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)
|
rs754195015
|
0.00001
|
|
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
|
rs779169597
|
0.00001
|
|
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu)
|
rs1168592296
|
0.00001
|
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
|
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr)
|
rs376496670
|
0.00001
|
|
NM_000081.4(LYST):c.5578A>G (p.Met1860Val)
|
rs368738466
|
0.00001
|
|
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)
|
rs770499406
|
0.00001
|
|
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)
|
rs370657735
|
0.00001
|
|
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)
|
rs756981034
|
0.00001
|
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
|
NM_000083.3(CLCN1):c.1401+1G>T
|
rs769861892
|
0.00001
|
|
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)
|
rs121912801
|
0.00001
|
|
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)
|
rs80356704
|
0.00001
|
|
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)
|
rs763850295
|
0.00001
|
|
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val)
|
rs1336908700
|
0.00001
|
|
NM_000083.3(CLCN1):c.2364+2T>A
|
rs886041384
|
0.00001
|
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
|
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)
|
rs918420911
|
0.00001
|
|
NM_000088.4(COL1A1):c.945C>T (p.Ala315=)
|
rs780242725
|
0.00001
|
|
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His)
|
rs200331961
|
0.00001
|
|
NM_000089.4(COL1A2):c.2781+13C>G
|
rs193922163
|
0.00001
|
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
|
NM_000090.4(COL3A1):c.1050+7_1050+8del
|
rs759415640
|
0.00001
|
|
NM_000090.4(COL3A1):c.1455+12A>G
|
rs752647323
|
0.00001
|
|
NM_000090.4(COL3A1):c.1509+7A>C
|
rs201740954
|
0.00001
|
|
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=)
|
rs754318905
|
0.00001
|
|
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)
|
rs762028131
|
0.00001
|
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607+10G>A
|
rs367789349
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
|
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala)
|
rs1158155272
|
0.00001
|
|
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=)
|
rs915948354
|
0.00001
|
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
|
NM_000090.4(COL3A1):c.303T>C (p.Gly101=)
|
rs1688040630
|
0.00001
|
|
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln)
|
rs1484867480
|
0.00001
|
|
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
|
NM_000090.4(COL3A1):c.3824-11T>G
|
rs766096022
|
0.00001
|
|
NM_000090.4(COL3A1):c.4254+10A>G
|
rs1045801346
|
0.00001
|
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
|
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)
|
rs908421014
|
0.00001
|
|
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)
|
rs747324731
|
0.00001
|
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
0.00001
|
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
|
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del)
|
rs762420854
|
0.00001
|
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
0.00001
|
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
|
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)
|
rs375290088
|
0.00001
|
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
|
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)
|
rs759869958
|
0.00001
|
|
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)
|
rs573527081
|
0.00001
|
|
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)
|
rs377511303
|
0.00001
|
|
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu)
|
rs901711159
|
0.00001
|
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
|
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=)
|
rs774491536
|
0.00001
|
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
|
NM_000093.5(COL5A1):c.4392+16C>T
|
rs763448522
|
0.00001
|
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
|
NM_000093.5(COL5A1):c.849C>T (p.Pro283=)
|
rs761805821
|
0.00001
|
|
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)
|
rs760063197
|
0.00001
|
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
|
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)
|
rs760891216
|
0.00001
|
|
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
|
rs2043645754
|
0.00001
|
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
|
NM_000098.3(CPT2):c.1115A>G (p.His372Arg)
|
rs1212235186
|
0.00001
|
|
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)
|
rs756931329
|
0.00001
|
|
NM_000098.3(CPT2):c.1493G>A (p.Arg498His)
|
rs776645157
|
0.00001
|
|
NM_000098.3(CPT2):c.1751A>G (p.His584Arg)
|
rs750604350
|
0.00001
|
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
|
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys)
|
rs759733220
|
0.00001
|
|
NM_000101.4(CYBA):c.433G>A (p.Gly145Arg)
|
rs576565258
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
|
rs61754278
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)
|
rs104894142
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)
|
rs777638364
|
0.00001
|
|
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)
|
rs104894153
|
0.00001
|
|
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)
|
rs61754262
|
0.00001
|
|
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr)
|
rs104893629
|
0.00001
|
|
NM_000104.4(CYP1B1):c.1A>G (p.Met1Val)
|
rs757520959
|
0.00001
|
|
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser)
|
rs1156997078
|
0.00001
|
|
NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys)
|
rs72481807
|
0.00001
|
|
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu)
|
rs529769268
|
0.00001
|
|
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)
|
rs777678299
|
0.00001
|
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
|
NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter)
|
rs78060119
|
0.00001
|
|
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter)
|
rs1057516388
|
0.00001
|
|
NM_000110.4(DPYD):c.3034G>T (p.Glu1012Ter)
|
rs761584058
|
0.00001
|
|
NM_000110.4(DPYD):c.36C>G (p.Ile12Met)
|
rs376273539
|
0.00001
|
|
NM_000110.4(DPYD):c.3G>A (p.Met1Ile)
|
rs768020954
|
0.00001
|
|
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)
|
rs72549307
|
0.00001
|
|
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)
|
rs146170505
|
0.00001
|
|
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)
|
rs1265764649
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
|
NM_000122.2(ERCC3):c.657+1G>A
|
rs56116802
|
0.00001
|
|
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)
|
rs751772171
|
0.00001
|
|
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)
|
rs899478069
|
0.00001
|
|
NM_000123.4(ERCC5):c.2556A>G (p.Ile852Met)
|
rs780704053
|
0.00001
|
|
NM_000124.4(ERCC6):c.-14-2A>G
|
rs760663515
|
0.00001
|
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
|
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)
|
rs780538788
|
0.00001
|
|
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)
|
rs121917903
|
0.00001
|
|
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)
|
rs786205171
|
0.00001
|
|
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)
|
rs765825423
|
0.00001
|
|
NM_000124.4(ERCC6):c.899C>T (p.Ala300Val)
|
rs373471724
|
0.00001
|
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
|
NM_000128.4(F11):c.1103G>C (p.Gly368Ala)
|
rs748926718
|
0.00001
|
|
NM_000128.4(F11):c.1546G>A (p.Val516Met)
|
rs200622588
|
0.00001
|
|
NM_000128.4(F11):c.1693G>A (p.Glu565Lys)
|
rs281875275
|
0.00001
|
|
NM_000128.4(F11):c.365G>A (p.Gly122Asp)
|
rs369650561
|
0.00001
|
|
NM_000132.4(F8):c.1316G>T (p.Gly439Val)
|
rs1362305882
|
0.00001
|
|
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)
|
rs137852419
|
0.00001
|
|
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)
|
rs28935203
|
0.00001
|
|
NM_000132.4(F8):c.599A>G (p.Glu200Gly)
|
rs782158761
|
0.00001
|
|
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)
|
rs137852473
|
0.00001
|
|
NM_000132.4(F8):c.989A>G (p.His330Arg)
|
rs782498015
|
0.00001
|
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
|
NM_000133.4(F9):c.572G>A (p.Arg191His)
|
rs137852238
|
0.00001
|
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
|
NM_000136.3(FANCC):c.436_438del (p.Tyr146del)
|
rs761347179
|
0.00001
|
|
NM_000136.3(FANCC):c.46A>G (p.Met16Val)
|
rs1390412870
|
0.00001
|
|
NM_000136.3(FANCC):c.521+10_521+13del
|
rs1372625836
|
0.00001
|
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
|
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)
|
rs757190154
|
0.00001
|
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
|
NM_000137.4(FAH):c.3G>A (p.Met1Ile)
|
rs766882348
|
0.00001
|
|
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)
|
rs774861939
|
0.00001
|
|
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)
|
rs764925097
|
0.00001
|
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
|
NM_000138.5(FBN1):c.1731C>T (p.Ser577=)
|
rs1453708754
|
0.00001
|
|
NM_000138.5(FBN1):c.174C>A (p.Val58=)
|
rs369096927
|
0.00001
|
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
|
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
|
NM_000138.5(FBN1):c.2113+17A>G
|
rs1246446564
|
0.00001
|
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
|
NM_000138.5(FBN1):c.2433C>T (p.Cys811=)
|
rs193921256
|
0.00001
|
|
NM_000138.5(FBN1):c.2598C>T (p.Ile866=)
|
rs752457534
|
0.00001
|
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
|
NM_000138.5(FBN1):c.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
|
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=)
|
rs764203356
|
0.00001
|
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
|
NM_000138.5(FBN1):c.3464-3C>T
|
rs770992241
|
0.00001
|
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
|
NM_000138.5(FBN1):c.3573T>A (p.Asp1191Glu)
|
rs150912619
|
0.00001
|
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
|
NM_000138.5(FBN1):c.393C>T (p.Asp131=)
|
rs549054625
|
0.00001
|
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
|
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly)
|
rs1309215883
|
0.00001
|
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
|
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=)
|
rs776021250
|
0.00001
|
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
|
NM_000138.5(FBN1):c.5225-19C>T
|
rs375761937
|
0.00001
|
|
NM_000138.5(FBN1):c.5296+13G>A
|
rs781168268
|
0.00001
|
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
|
NM_000138.5(FBN1):c.5423-15C>A
|
rs1426894149
|
0.00001
|
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
|
NM_000138.5(FBN1):c.5546-17A>G
|
rs758777360
|
0.00001
|
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
|
NM_000138.5(FBN1):c.6038-8T>A
|
rs569460847
|
0.00001
|
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
|
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=)
|
rs772439885
|
0.00001
|
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
|
NM_000138.5(FBN1):c.6493G>T (p.Val2165Leu)
|
rs200469438
|
0.00001
|
|
NM_000138.5(FBN1):c.6497-12G>C
|
rs369726558
|
0.00001
|
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
|
NM_000138.5(FBN1):c.6871+12C>A
|
rs770526904
|
0.00001
|
|
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=)
|
rs773655866
|
0.00001
|
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
|
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg)
|
rs1448650040
|
0.00001
|
|
NM_000138.5(FBN1):c.7484A>G (p.Asn2495Ser)
|
rs1252037822
|
0.00001
|
|
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=)
|
rs111895751
|
0.00001
|
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
|
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=)
|
rs193922238
|
0.00001
|
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
|
NM_000138.5(FBN1):c.8051+20G>T
|
rs781718760
|
0.00001
|
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
|
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=)
|
rs1372383251
|
0.00001
|
|
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val)
|
rs1253681259
|
0.00001
|
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
|
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)
|
rs147279938
|
0.00001
|
|
NM_000138.5(FBN1):c.8593A>G (p.Lys2865Glu)
|
rs775732785
|
0.00001
|
|
NM_000141.5(FGFR2):c.569G>A (p.Arg190Gln)
|
rs759750319
|
0.00001
|
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
|
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)
|
rs761325047
|
0.00001
|
|
NM_000142.5(FGFR3):c.370C>T (p.Arg124Trp)
|
rs199740841
|
0.00001
|
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
|
NM_000146.4(FTL):c.-182C>T
|
rs886037622
|
0.00001
|
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
|
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)
|
rs80358196
|
0.00001
|
|
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln)
|
rs372045495
|
0.00001
|
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
|
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)
|
rs1567702823
|
0.00001
|
|
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)
|
rs1801176
|
0.00001
|
|
NM_000151.4(G6PC1):c.356A>G (p.His119Arg)
|
rs1401928680
|
0.00001
|
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
|
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)
|
rs1272803483
|
0.00001
|
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
|
NM_000152.5(GAA):c.1754+1G>A
|
rs886043399
|
0.00001
|
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
|
NM_000153.4(GALC):c.*12G>A
|
rs372641636
|
0.00001
|
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
|
NM_000153.4(GALC):c.1489+9T>C
|
rs747839251
|
0.00001
|
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
|
NM_000153.4(GALC):c.169G>A (p.Gly57Ser)
|
rs11623
|
0.00001
|
|
NM_000153.4(GALC):c.1723_1724insT (p.Gly575fs)
|
rs1405488688
|
0.00001
|
|
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)
|
rs1418694289
|
0.00001
|
|
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser)
|
rs769851272
|
0.00001
|
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
|
NM_000153.4(GALC):c.379C>T (p.Arg127Ter)
|
rs200532368
|
0.00001
|
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00001
|
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
|
NM_000153.4(GALC):c.582+1G>A
|
rs750881596
|
0.00001
|
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
|
NM_000153.4(GALC):c.869G>A (p.Arg290His)
|
rs746806459
|
0.00001
|
|
NM_000153.4(GALC):c.908+1G>A
|
rs750524447
|
0.00001
|
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
|
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)
|
rs1337518083
|
0.00001
|
|
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg)
|
rs1214866139
|
0.00001
|
|
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
|
rs1365349586
|
0.00001
|
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
|
NM_000155.4(GALT):c.1017C>T (p.Tyr339=)
|
rs759417724
|
0.00001
|
|
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)
|
rs111033806
|
0.00001
|
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
|
NM_000155.4(GALT):c.328+7T>C
|
rs774350978
|
0.00001
|
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
|
NM_000155.4(GALT):c.390C>T (p.Cys130=)
|
rs1410761611
|
0.00001
|
|
NM_000155.4(GALT):c.396C>A (p.His132Gln)
|
rs367543256
|
0.00001
|
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
|
NM_000155.4(GALT):c.469G>A (p.Val157Ile)
|
rs1173928130
|
0.00001
|
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
|
NM_000155.4(GALT):c.593T>C (p.Ile198Thr)
|
rs1483461355
|
0.00001
|
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
|
NM_000155.4(GALT):c.632G>C (p.Ser211Thr)
|
rs3824553
|
0.00001
|
|
NM_000155.4(GALT):c.678A>G (p.Leu226=)
|
rs777577533
|
0.00001
|
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
|
NM_000155.4(GALT):c.762G>A (p.Leu254=)
|
rs748639317
|
0.00001
|
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
|
NM_000155.4(GALT):c.82+13C>T
|
rs776194301
|
0.00001
|
|
NM_000155.4(GALT):c.82+15G>A
|
rs752065555
|
0.00001
|
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
|
NM_000155.4(GALT):c.851C>A (p.Thr284Asn)
|
rs753364304
|
0.00001
|
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
|
NM_000156.6(GAMT):c.145del (p.Tyr49fs)
|
rs1384688313
|
0.00001
|
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
|
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp)
|
rs368221789
|
0.00001
|
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
|
NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe)
|
rs868591897
|
0.00001
|
|
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)
|
rs760307559
|
0.00001
|
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
|
NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)
|
rs1553217009
|
0.00001
|
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
|
NM_000157.4(GBA1):c.1515G>A (p.Lys505=)
|
rs767373402
|
0.00001
|
|
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)
|
rs747506979
|
0.00001
|
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
|
NM_000157.4(GBA1):c.473T>C (p.Ile158Thr)
|
rs77834747
|
0.00001
|
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
|
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)
|
rs749714463
|
0.00001
|
|
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)
|
rs1009850780
|
0.00001
|
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
|
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)
|
rs773409311
|
0.00001
|
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
|
NM_000158.4(GBE1):c.2052+2T>C
|
rs375596642
|
0.00001
|
|
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly)
|
rs1400238963
|
0.00001
|
|
NM_000158.4(GBE1):c.842T>G (p.Ile281Ser)
|
rs1704706672
|
0.00001
|
|
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)
|
rs1257292639
|
0.00001
|
|
NM_000159.4(GCDH):c.1064G>A (p.Arg355His)
|
rs748275416
|
0.00001
|
|
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)
|
rs752127949
|
0.00001
|
|
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)
|
rs778153326
|
0.00001
|
|
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)
|
rs898043081
|
0.00001
|
|
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)
|
rs752334462
|
0.00001
|
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
|
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)
|
rs754312389
|
0.00001
|
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
|
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu)
|
rs755054282
|
0.00001
|
|
NM_000159.4(GCDH):c.852+5G>A
|
rs886054243
|
0.00001
|
|
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)
|
rs1328059662
|
0.00001
|
|
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)
|
rs1260580183
|
0.00001
|
|
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)
|
rs193922260
|
0.00001
|
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
|
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
|
rs193922311
|
0.00001
|
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
|
NM_000162.5(GCK):c.824G>A (p.Arg275His)
|
rs767565869
|
0.00001
|
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
|
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
|
rs193922340
|
0.00001
|
|
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)
|
rs121909359
|
0.00001
|
|
NM_000165.5(GJA1):c.15C>T (p.Ser5=)
|
rs758641783
|
0.00001
|
|
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)
|
rs28935493
|
0.00001
|
|
NM_000169.3(GLA):c.1050T>C (p.Ala350=)
|
rs869312210
|
0.00001
|
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
|
NM_000169.3(GLA):c.1233C>T (p.Gly411=)
|
rs1555984746
|
0.00001
|
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
|
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)
|
rs104894841
|
0.00001
|
|
NM_000169.3(GLA):c.706T>C (p.Trp236Arg)
|
rs1555985148
|
0.00001
|
|
NM_000169.3(GLA):c.801+14C>T
|
rs200744672
|
0.00001
|
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00001
|
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
|
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)
|
rs772574530
|
0.00001
|
|
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)
|
rs386833576
|
0.00001
|
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
|
NM_000171.4(GLRA1):c.1158C>A (p.Asn386Lys)
|
rs776916010
|
0.00001
|
|
NM_000171.4(GLRA1):c.525G>A (p.Met175Ile)
|
rs1341348939
|
0.00001
|
|
NM_000174.5(GP9):c.212T>C (p.Phe71Ser)
|
rs121918037
|
0.00001
|
|
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)
|
rs28938472
|
0.00001
|
|
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)
|
rs201925123
|
0.00001
|
|
NM_000178.4(GSS):c.847C>T (p.Arg283Cys)
|
rs121909309
|
0.00001
|
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
|
NM_000179.3(MSH6):c.111C>T (p.Ala37=)
|
rs1011670864
|
0.00001
|
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
|
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)
|
rs587779205
|
0.00001
|
|
NM_000179.3(MSH6):c.1146C>G (p.His382Gln)
|
rs1572721856
|
0.00001
|
|
NM_000179.3(MSH6):c.1163A>T (p.His388Leu)
|
rs786201185
|
0.00001
|
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
|
NM_000179.3(MSH6):c.1176T>C (p.Asp392=)
|
rs587779912
|
0.00001
|
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
|
NM_000179.3(MSH6):c.1209C>G (p.Leu403=)
|
rs748603803
|
0.00001
|
|
NM_000179.3(MSH6):c.1214C>G (p.Ser405Cys)
|
rs730881790
|
0.00001
|
|
NM_000179.3(MSH6):c.1275C>A (p.Ile425=)
|
rs786203122
|
0.00001
|
|
NM_000179.3(MSH6):c.134G>C (p.Gly45Ala)
|
rs1114167802
|
0.00001
|
|
NM_000179.3(MSH6):c.1376C>G (p.Ser459Cys)
|
rs587782346
|
0.00001
|
|
NM_000179.3(MSH6):c.1395A>G (p.Ala465=)
|
rs1057520322
|
0.00001
|
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
|
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)
|
rs374597395
|
0.00001
|
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
|
NM_000179.3(MSH6):c.1587T>G (p.Gly529=)
|
rs764396869
|
0.00001
|
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
|
NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys)
|
rs200447622
|
0.00001
|
|
NM_000179.3(MSH6):c.1655A>G (p.His552Arg)
|
rs1064793423
|
0.00001
|
|
NM_000179.3(MSH6):c.1698A>C (p.Gly566=)
|
rs764818222
|
0.00001
|
|
NM_000179.3(MSH6):c.1740G>A (p.Ser580=)
|
rs762089407
|
0.00001
|
|
NM_000179.3(MSH6):c.1757T>C (p.Val586Ala)
|
rs730881792
|
0.00001
|
|
NM_000179.3(MSH6):c.1776A>T (p.Val592=)
|
rs56132616
|
0.00001
|
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
|
NM_000179.3(MSH6):c.1983T>C (p.Gly661=)
|
rs1411415960
|
0.00001
|
|
NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu)
|
rs1361745058
|
0.00001
|
|
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)
|
rs555209664
|
0.00001
|
|
NM_000179.3(MSH6):c.2030G>C (p.Ser677Thr)
|
rs587779224
|
0.00001
|
|
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys)
|
rs1060502934
|
0.00001
|
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
|
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)
|
rs730881796
|
0.00001
|
|
NM_000179.3(MSH6):c.2154C>T (p.Ser718=)
|
rs771662801
|
0.00001
|
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
|
NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)
|
rs587779233
|
0.00001
|
|
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)
|
rs561198849
|
0.00001
|
|
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)
|
rs864622324
|
0.00001
|
|
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys)
|
rs864622425
|
0.00001
|
|
NM_000179.3(MSH6):c.2391C>T (p.Asp797=)
|
rs754870044
|
0.00001
|
|
NM_000179.3(MSH6):c.2400T>C (p.Val800=)
|
rs267608071
|
0.00001
|
|
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)
|
rs1064793552
|
0.00001
|
|
NM_000179.3(MSH6):c.241G>A (p.Ala81Thr)
|
rs587779239
|
0.00001
|
|
NM_000179.3(MSH6):c.246T>C (p.Pro82=)
|
rs786201527
|
0.00001
|
|
NM_000179.3(MSH6):c.260+7G>A
|
rs774479750
|
0.00001
|
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
|
NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr)
|
rs1060502911
|
0.00001
|
|
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)
|
rs762818044
|
0.00001
|
|
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)
|
rs876661281
|
0.00001
|
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
|
NM_000179.3(MSH6):c.2762C>T (p.Ala921Val)
|
rs1060502936
|
0.00001
|
|
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln)
|
rs752839086
|
0.00001
|
|
NM_000179.3(MSH6):c.2776C>T (p.Leu926Phe)
|
rs587781318
|
0.00001
|
|
NM_000179.3(MSH6):c.2853C>G (p.Leu951=)
|
rs876658525
|
0.00001
|
|
NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro)
|
rs587781743
|
0.00001
|
|
NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys)
|
rs751973865
|
0.00001
|
|
NM_000179.3(MSH6):c.2882G>C (p.Arg961Thr)
|
rs587781458
|
0.00001
|
|
NM_000179.3(MSH6):c.2934G>A (p.Gln978=)
|
rs751780309
|
0.00001
|
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
|
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)
|
rs587779928
|
0.00001
|
|
NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys)
|
rs61753795
|
0.00001
|
|
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)
|
rs367758473
|
0.00001
|
|
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)
|
rs587782324
|
0.00001
|
|
NM_000179.3(MSH6):c.3015A>G (p.Arg1005=)
|
rs990650403
|
0.00001
|
|
NM_000179.3(MSH6):c.303G>A (p.Glu101=)
|
rs1057521533
|
0.00001
|
|
NM_000179.3(MSH6):c.3049A>G (p.Asn1017Asp)
|
rs1060502943
|
0.00001
|
|
NM_000179.3(MSH6):c.3081A>G (p.Val1027=)
|
rs760019920
|
0.00001
|
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
|
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val)
|
rs1553331250
|
0.00001
|
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
|
NM_000179.3(MSH6):c.3238C>G (p.Leu1080Val)
|
rs1553331335
|
0.00001
|
|
NM_000179.3(MSH6):c.3294C>T (p.Cys1098=)
|
rs766341781
|
0.00001
|
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
|
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
|
rs786202772
|
0.00001
|
|
NM_000179.3(MSH6):c.3363G>C (p.Glu1121Asp)
|
rs377226210
|
0.00001
|
|
NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)
|
rs1182444882
|
0.00001
|
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
|
NM_000179.3(MSH6):c.3465G>T (p.Gln1155His)
|
rs766817979
|
0.00001
|
|
NM_000179.3(MSH6):c.3505C>G (p.Pro1169Ala)
|
rs904846776
|
0.00001
|
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
|
NM_000179.3(MSH6):c.3567A>G (p.Thr1189=)
|
rs754959739
|
0.00001
|
|
NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)
|
rs75095286
|
0.00001
|
|
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)
|
rs369778514
|
0.00001
|
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
|
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)
|
rs763593669
|
0.00001
|
|
NM_000179.3(MSH6):c.3625C>T (p.Leu1209=)
|
rs753675331
|
0.00001
|
|
NM_000179.3(MSH6):c.3647-10A>C
|
rs756569687
|
0.00001
|
|
NM_000179.3(MSH6):c.3647-7T>G
|
rs780269667
|
0.00001
|
|
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly)
|
rs587780677
|
0.00001
|
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
|
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)
|
rs730881807
|
0.00001
|
|
NM_000179.3(MSH6):c.36C>G (p.Pro12=)
|
rs760533525
|
0.00001
|
|
NM_000179.3(MSH6):c.3713C>G (p.Thr1238Ser)
|
rs755349360
|
0.00001
|
|
NM_000179.3(MSH6):c.3725G>T (p.Arg1242Leu)
|
rs63750119
|
0.00001
|
|
NM_000179.3(MSH6):c.3779T>C (p.Val1260Ala)
|
rs1212740618
|
0.00001
|
|
NM_000179.3(MSH6):c.3782C>T (p.Ala1261Val)
|
rs773171352
|
0.00001
|
|
NM_000179.3(MSH6):c.3809T>A (p.Met1270Lys)
|
rs777617756
|
0.00001
|
|
NM_000179.3(MSH6):c.3886A>G (p.Lys1296Glu)
|
rs575714670
|
0.00001
|
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
|
NM_000179.3(MSH6):c.4033G>A (p.Val1345Ile)
|
rs747613376
|
0.00001
|
|
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)
|
rs192740549
|
0.00001
|
|
NM_000179.3(MSH6):c.435A>C (p.Lys145Asn)
|
rs1321666742
|
0.00001
|
|
NM_000179.3(MSH6):c.457+7G>C
|
rs781280171
|
0.00001
|
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>T (p.Arg178Leu)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.566A>T (p.Lys189Met)
|
rs1060502889
|
0.00001
|
|
NM_000179.3(MSH6):c.57T>C (p.Asp19=)
|
rs752794296
|
0.00001
|
|
NM_000179.3(MSH6):c.647C>T (p.Thr216Ile)
|
rs765195534
|
0.00001
|
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
|
NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)
|
rs374041375
|
0.00001
|
|
NM_000179.3(MSH6):c.742del (p.Arg248fs)
|
rs587781691
|
0.00001
|
|
NM_000179.3(MSH6):c.81C>G (p.Ala27=)
|
rs781496151
|
0.00001
|
|
NM_000179.3(MSH6):c.846G>C (p.Val282=)
|
rs573638836
|
0.00001
|
|
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)
|
rs63750878
|
0.00001
|
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
|
NM_000179.3(MSH6):c.898C>T (p.Arg300Trp)
|
rs779858670
|
0.00001
|
|
NM_000179.3(MSH6):c.944C>G (p.Ser315Cys)
|
rs63750491
|
0.00001
|
|
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala)
|
rs886056143
|
0.00001
|
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
|
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp)
|
rs757387072
|
0.00001
|
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
|
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
|
rs771629102
|
0.00001
|
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
|
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)
|
rs779091113
|
0.00001
|
|
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)
|
rs1434169374
|
0.00001
|
|
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)
|
rs121918179
|
0.00001
|
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
|
NM_000182.5(HADHA):c.67+17G>C
|
rs574255291
|
0.00001
|
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
|
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
|
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)
|
rs1023807527
|
0.00001
|
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
|
NM_000183.3(HADHB):c.255-2A>G
|
rs1220650950
|
0.00001
|
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
|
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln)
|
rs749861331
|
0.00001
|
|
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)
|
rs118204106
|
0.00001
|
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
|
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
|
rs990313450
|
0.00001
|
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
|
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter)
|
rs767128094
|
0.00001
|
|
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)
|
rs587628683
|
0.00001
|
|
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)
|
rs80358221
|
0.00001
|
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
|
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu)
|
rs918621189
|
0.00001
|
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00001
|
|
NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter)
|
rs1354690186
|
0.00001
|
|
NM_000203.5(IDUA):c.1402+1G>T
|
rs398123254
|
0.00001
|
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
|
NM_000203.5(IDUA):c.619G>C (p.Glu207Gln)
|
rs1553917102
|
0.00001
|
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
|
NM_000208.4(INSR):c.1151A>G (p.Asn384Ser)
|
rs1419106670
|
0.00001
|
|
NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe)
|
rs1242190304
|
0.00001
|
|
NM_000209.4(PDX1):c.216C>T (p.Pro72=)
|
rs193922353
|
0.00001
|
|
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
|
rs193922360
|
0.00001
|
|
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)
|
rs121918446
|
0.00001
|
|
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)
|
rs1458651228
|
0.00001
|
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
|
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)
|
rs267605358
|
0.00001
|
|
NM_000215.4(JAK3):c.1767C>T (p.Gly589=)
|
rs193922362
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=)
|
rs138551008
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=)
|
rs886039093
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
|
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)
|
rs377520734
|
0.00001
|
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
|
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
|
rs179489
|
0.00001
|
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
|
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)
|
rs199472713
|
0.00001
|
|
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
|
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)
|
rs120074186
|
0.00001
|
|
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)
|
rs757145297
|
0.00001
|
|
NM_000228.3(LAMB3):c.1756C>T (p.Gln586Ter)
|
rs749842554
|
0.00001
|
|
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)
|
rs759518184
|
0.00001
|
|
NM_000228.3(LAMB3):c.628+1G>A
|
rs1057516539
|
0.00001
|
|
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
|
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)
|
rs763780768
|
0.00001
|
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
|
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)
|
rs121965086
|
0.00001
|
|
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)
|
rs754964952
|
0.00001
|
|
NM_000237.3(LPL):c.590G>A (p.Arg197His)
|
rs372668179
|
0.00001
|
|
NM_000237.3(LPL):c.809G>A (p.Arg270His)
|
rs118204062
|
0.00001
|
|
NM_000237.3(LPL):c.843T>C (p.Asn281=)
|
rs1217848191
|
0.00001
|
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
|
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)
|
rs199472990
|
0.00001
|
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
|
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)
|
rs794728403
|
0.00001
|
|
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala)
|
rs786205422
|
0.00001
|
|
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu)
|
rs1367019959
|
0.00001
|
|
NM_000243.3(MEFV):c.1261-13G>A
|
rs778114467
|
0.00001
|
|
NM_000243.3(MEFV):c.1356+11A>C
|
rs548648384
|
0.00001
|
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
|
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
|
NM_000243.3(MEFV):c.359C>T (p.Thr120Ile)
|
rs772698222
|
0.00001
|
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
|
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg)
|
rs1959088372
|
0.00001
|
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
|
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg)
|
rs765450054
|
0.00001
|
|
NM_000243.3(MEFV):c.621C>T (p.Ala207=)
|
rs767667206
|
0.00001
|
|
NM_000243.3(MEFV):c.679A>G (p.Arg227Gly)
|
rs1302994748
|
0.00001
|
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
|
NM_000245.4(MET):c.2851T>C (p.Phe951Leu)
|
rs756670611
|
0.00001
|
|
NM_000245.4(MET):c.490C>G (p.Pro164Ala)
|
rs765759353
|
0.00001
|
|
NM_000246.4(CIITA):c.2027A>T (p.Gln676Leu)
|
rs574001136
|
0.00001
|
|
NM_000246.4(CIITA):c.3326C>T (p.Thr1109Met)
|
rs1013962316
|
0.00001
|
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
|
NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser)
|
rs752962453
|
0.00001
|
|
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser)
|
rs756347993
|
0.00001
|
|
NM_000249.4(MLH1):c.1064C>T (p.Pro355Leu)
|
rs587782467
|
0.00001
|
|
NM_000249.4(MLH1):c.108T>C (p.Ile36=)
|
rs730881747
|
0.00001
|
|
NM_000249.4(MLH1):c.116+8G>A
|
rs904872305
|
0.00001
|
|
NM_000249.4(MLH1):c.1164C>T (p.Ser388=)
|
rs1060504014
|
0.00001
|
|
NM_000249.4(MLH1):c.1191G>A (p.Leu397=)
|
rs35164771
|
0.00001
|
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
|
NM_000249.4(MLH1):c.1245T>G (p.Asp415Glu)
|
rs750563193
|
0.00001
|
|
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu)
|
rs876659252
|
0.00001
|
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
|
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)
|
rs63750498
|
0.00001
|
|
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)
|
rs876659795
|
0.00001
|
|
NM_000249.4(MLH1):c.1452T>C (p.Asp484=)
|
rs587778916
|
0.00001
|
|
NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln)
|
rs754554026
|
0.00001
|
|
NM_000249.4(MLH1):c.1500C>G (p.Ile500Met)
|
rs887474856
|
0.00001
|
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
|
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr)
|
rs876658689
|
0.00001
|
|
NM_000249.4(MLH1):c.1558+10C>T
|
rs765913871
|
0.00001
|
|
NM_000249.4(MLH1):c.1665T>C (p.Leu555=)
|
rs749204990
|
0.00001
|
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
|
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)
|
rs63751713
|
0.00001
|
|
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)
|
rs587779956
|
0.00001
|
|
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)
|
rs780199021
|
0.00001
|
|
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)
|
rs377241633
|
0.00001
|
|
NM_000249.4(MLH1):c.1896+17T>C
|
rs193922368
|
0.00001
|
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
|
NM_000249.4(MLH1):c.1902G>A (p.Gly634=)
|
rs376866470
|
0.00001
|
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
|
NM_000249.4(MLH1):c.2094A>G (p.Ser698=)
|
rs786202433
|
0.00001
|
|
NM_000249.4(MLH1):c.2161T>C (p.Tyr721His)
|
rs1453792999
|
0.00001
|
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
|
NM_000249.4(MLH1):c.2190T>C (p.Pro730=)
|
rs1057521673
|
0.00001
|
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
|
NM_000249.4(MLH1):c.24T>A (p.Ile8=)
|
rs748406142
|
0.00001
|
|
NM_000249.4(MLH1):c.261C>T (p.Ser87=)
|
rs63750923
|
0.00001
|
|
NM_000249.4(MLH1):c.27G>T (p.Arg9=)
|
rs759680369
|
0.00001
|
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
|
NM_000249.4(MLH1):c.30G>T (p.Arg10=)
|
rs876660759
|
0.00001
|
|
NM_000249.4(MLH1):c.317G>A (p.Ser106Asn)
|
rs368208495
|
0.00001
|
|
NM_000249.4(MLH1):c.351G>A (p.Thr117=)
|
rs61751643
|
0.00001
|
|
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly)
|
rs267607740
|
0.00001
|
|
NM_000249.4(MLH1):c.454-6G>A
|
rs781238673
|
0.00001
|
|
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser)
|
rs1064795694
|
0.00001
|
|
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)
|
rs587779029
|
0.00001
|
|
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser)
|
rs587781509
|
0.00001
|
|
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)
|
rs750650349
|
0.00001
|
|
NM_000249.4(MLH1):c.677+7C>G
|
rs556224377
|
0.00001
|
|
NM_000249.4(MLH1):c.677+9A>G
|
rs1060500696
|
0.00001
|
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
|
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)
|
rs587781505
|
0.00001
|
|
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser)
|
rs587782800
|
0.00001
|
|
NM_000249.4(MLH1):c.762G>A (p.Lys254=)
|
rs863224341
|
0.00001
|
|
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp)
|
rs756398627
|
0.00001
|
|
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)
|
rs201931669
|
0.00001
|
|
NM_000249.4(MLH1):c.863C>T (p.Thr288Ile)
|
rs786203878
|
0.00001
|
|
NM_000249.4(MLH1):c.885-5G>T
|
rs267607802
|
0.00001
|
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
|
NM_000249.4(MLH1):c.918T>C (p.Asn306=)
|
rs587779054
|
0.00001
|
|
NM_000249.4(MLH1):c.969G>C (p.Leu323=)
|
rs1553648063
|
0.00001
|
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
|
NM_000251.3(MSH2):c.1076+12G>C
|
rs755616171
|
0.00001
|
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
|
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)
|
rs376934727
|
0.00001
|
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
|
NM_000251.3(MSH2):c.1194A>G (p.Ala398=)
|
rs1060504412
|
0.00001
|
|
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys)
|
rs63750379
|
0.00001
|
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
|
NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)
|
rs768070717
|
0.00001
|
|
NM_000251.3(MSH2):c.1311G>T (p.Val437=)
|
rs730881781
|
0.00001
|
|
NM_000251.3(MSH2):c.1316C>T (p.Pro439Leu)
|
rs771789692
|
0.00001
|
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
|
NM_000251.3(MSH2):c.1374A>G (p.Leu458=)
|
rs767639853
|
0.00001
|
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
|
NM_000251.3(MSH2):c.1511-12T>C
|
rs539257378
|
0.00001
|
|
NM_000251.3(MSH2):c.153G>A (p.Leu51=)
|
rs1378730463
|
0.00001
|
|
NM_000251.3(MSH2):c.159C>T (p.Ala53=)
|
rs780178752
|
0.00001
|
|
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)
|
rs864622079
|
0.00001
|
|
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys)
|
rs587779963
|
0.00001
|
|
NM_000251.3(MSH2):c.1760-7T>C
|
rs972129356
|
0.00001
|
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
|
NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)
|
rs772991620
|
0.00001
|
|
NM_000251.3(MSH2):c.1866A>C (p.Pro622=)
|
rs757766951
|
0.00001
|
|
NM_000251.3(MSH2):c.186G>A (p.Gly62=)
|
rs750058876
|
0.00001
|
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
|
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)
|
rs864622093
|
0.00001
|
|
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
|
rs374840361
|
0.00001
|
|
NM_000251.3(MSH2):c.192C>G (p.Ile64Met)
|
rs1395172053
|
0.00001
|
|
NM_000251.3(MSH2):c.1962C>T (p.Asp654=)
|
rs751939698
|
0.00001
|
|
NM_000251.3(MSH2):c.199A>G (p.Met67Val)
|
rs768824654
|
0.00001
|
|
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)
|
rs63749932
|
0.00001
|
|
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln)
|
rs1203462814
|
0.00001
|
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
|
NM_000251.3(MSH2):c.2082T>C (p.Phe694=)
|
rs748210094
|
0.00001
|
|
NM_000251.3(MSH2):c.2094G>A (p.Glu698=)
|
rs773555449
|
0.00001
|
|
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)
|
rs730881764
|
0.00001
|
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
|
NM_000251.3(MSH2):c.2211-7G>A
|
rs764972956
|
0.00001
|
|
NM_000251.3(MSH2):c.2248T>C (p.Leu750=)
|
rs527725593
|
0.00001
|
|
NM_000251.3(MSH2):c.237G>T (p.Val79=)
|
rs786202203
|
0.00001
|
|
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)
|
rs876660738
|
0.00001
|
|
NM_000251.3(MSH2):c.2397T>C (p.Asn799=)
|
rs368988823
|
0.00001
|
|
NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala)
|
rs63751168
|
0.00001
|
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
|
NM_000251.3(MSH2):c.2458+4T>C
|
rs1038735071
|
0.00001
|
|
NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)
|
rs1400051085
|
0.00001
|
|
NM_000251.3(MSH2):c.2589T>C (p.Tyr863=)
|
rs757938946
|
0.00001
|
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
|
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)
|
rs768983827
|
0.00001
|
|
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)
|
rs1290935051
|
0.00001
|
|
NM_000251.3(MSH2):c.266T>C (p.Val89Ala)
|
rs876659747
|
0.00001
|
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
|
NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile)
|
rs587779968
|
0.00001
|
|
NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)
|
rs1443234544
|
0.00001
|
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
|
NM_000251.3(MSH2):c.366+4A>C
|
rs876659880
|
0.00001
|
|
NM_000251.3(MSH2):c.375T>G (p.Pro125=)
|
rs1427268231
|
0.00001
|
|
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)
|
rs587779972
|
0.00001
|
|
NM_000251.3(MSH2):c.395A>T (p.Glu132Val)
|
rs1486720679
|
0.00001
|
|
NM_000251.3(MSH2):c.440T>G (p.Val147Gly)
|
rs760851623
|
0.00001
|
|
NM_000251.3(MSH2):c.459C>T (p.Ser153=)
|
rs63751065
|
0.00001
|
|
NM_000251.3(MSH2):c.476G>T (p.Arg159Ile)
|
rs786202921
|
0.00001
|
|
NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)
|
rs1114167865
|
0.00001
|
|
NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)
|
rs63750037
|
0.00001
|
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
|
NM_000251.3(MSH2):c.574A>T (p.Ile192Phe)
|
rs768006988
|
0.00001
|
|
NM_000251.3(MSH2):c.589A>C (p.Lys197Gln)
|
rs778573140
|
0.00001
|
|
NM_000251.3(MSH2):c.624A>C (p.Gly208=)
|
rs786202651
|
0.00001
|
|
NM_000251.3(MSH2):c.639G>A (p.Leu213=)
|
rs751250018
|
0.00001
|
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
|
NM_000251.3(MSH2):c.646-13T>C
|
rs761205332
|
0.00001
|
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
|
NM_000251.3(MSH2):c.654A>G (p.Gln218=)
|
rs1045119422
|
0.00001
|
|
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)
|
rs1212577306
|
0.00001
|
|
NM_000251.3(MSH2):c.714T>C (p.Tyr238=)
|
rs369670665
|
0.00001
|
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
0.00001
|
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
|
NM_000251.3(MSH2):c.814G>A (p.Ala272Thr)
|
rs1558463956
|
0.00001
|
|
NM_000251.3(MSH2):c.867T>C (p.Phe289=)
|
rs863224342
|
0.00001
|
|
NM_000251.3(MSH2):c.942+5A>G
|
rs769242733
|
0.00001
|
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
|
NM_000251.3(MSH2):c.996G>A (p.Lys332=)
|
rs863224343
|
0.00001
|
|
NM_000255.4(MMUT):c.1083+2T>A
|
rs746085723
|
0.00001
|
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
|
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)
|
rs1346775255
|
0.00001
|
|
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)
|
rs887126161
|
0.00001
|
|
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)
|
rs764173488
|
0.00001
|
|
NM_000255.4(MMUT):c.1560+1G>T
|
rs200019422
|
0.00001
|
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
0.00001
|
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
|
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)
|
rs535411418
|
0.00001
|
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
0.00001
|
|
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)
|
rs780068818
|
0.00001
|
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
|
NM_000256.3(MYBPC3):c.112G>A (p.Val38Met)
|
rs1299024877
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser)
|
rs727505266
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)
|
rs397515923
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)
|
rs397515941
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)
|
rs761696555
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)
|
rs193922383
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3490+1G>T
|
rs397516020
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys)
|
rs755160084
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3654C>T (p.Gly1218=)
|
rs374755212
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)
|
rs762225417
|
0.00001
|
|
NM_000256.3(MYBPC3):c.393C>A (p.Ala131=)
|
rs1180272933
|
0.00001
|
|
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)
|
rs397516049
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
|
NM_000257.4(MYH7):c.1408-19C>A
|
rs758286237
|
0.00001
|
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
|
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)
|
rs771771163
|
0.00001
|
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
|
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)
|
rs727504239
|
0.00001
|
|
NM_000257.4(MYH7):c.201+13C>T
|
rs781529698
|
0.00001
|
|
NM_000257.4(MYH7):c.2044+18G>A
|
rs1406715881
|
0.00001
|
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
|
NM_000257.4(MYH7):c.2162+9G>A
|
rs765279420
|
0.00001
|
|
NM_000257.4(MYH7):c.2286+7A>G
|
rs758365123
|
0.00001
|
|
NM_000257.4(MYH7):c.2286G>A (p.Lys762=)
|
rs958169569
|
0.00001
|
|
NM_000257.4(MYH7):c.22G>A (p.Val8Ile)
|
rs754388460
|
0.00001
|
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
|
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)
|
rs121913631
|
0.00001
|
|
NM_000257.4(MYH7):c.2908G>A (p.Ala970Thr)
|
rs1446657813
|
0.00001
|
|
NM_000257.4(MYH7):c.3245+2T>G
|
rs113859723
|
0.00001
|
|
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr)
|
rs193922388
|
0.00001
|
|
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=)
|
rs587781083
|
0.00001
|
|
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His)
|
rs730880905
|
0.00001
|
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
|
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)
|
rs397516187
|
0.00001
|
|
NM_000257.4(MYH7):c.3781A>C (p.Ser1261Arg)
|
rs193922389
|
0.00001
|
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
|
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)
|
rs397516202
|
0.00001
|
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
|
NM_000257.4(MYH7):c.4424G>A (p.Arg1475His)
|
rs1176998293
|
0.00001
|
|
NM_000257.4(MYH7):c.4512C>T (p.Asn1504=)
|
rs1219572407
|
0.00001
|
|
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)
|
rs750987717
|
0.00001
|
|
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)
|
rs151113658
|
0.00001
|
|
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)
|
rs763538103
|
0.00001
|
|
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)
|
rs377461670
|
0.00001
|
|
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys)
|
rs397516245
|
0.00001
|
|
NM_000257.4(MYH7):c.5505G>A (p.Glu1835=)
|
rs750622554
|
0.00001
|
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
|
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln)
|
rs727504273
|
0.00001
|
|
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)
|
rs150634297
|
0.00001
|
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
|
NM_000258.3(MYL3):c.517A>G (p.Met173Val)
|
rs199474708
|
0.00001
|
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
|
NM_000260.4(MYO7A):c.338T>C (p.Ile113Thr)
|
rs1168387013
|
0.00001
|
|
NM_000260.4(MYO7A):c.3750+4C>T
|
rs764701863
|
0.00001
|
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
|
NM_000263.4(NAGLU):c.1021+1G>T
|
rs1447465424
|
0.00001
|
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
|
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
|
rs904118831
|
0.00001
|
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
|
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)
|
rs758907408
|
0.00001
|
|
NM_000264.5(PTCH1):c.394+6_394+17del
|
rs774338309
|
0.00001
|
|
NM_000268.4(NF2):c.1311A>G (p.Ala437=)
|
rs144628209
|
0.00001
|
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
|
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile)
|
rs76615690
|
0.00001
|
|
NM_000271.5(NPC1):c.1883A>G (p.Tyr628Cys)
|
rs2058768795
|
0.00001
|
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
|
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
|
rs370721218
|
0.00001
|
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
|
NM_000271.5(NPC1):c.83A>G (p.Tyr28Cys)
|
rs1232191827
|
0.00001
|
|
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)
|
rs200068769
|
0.00001
|
|
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)
|
rs386833598
|
0.00001
|
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
|
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val)
|
rs570914443
|
0.00001
|
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
|
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe)
|
rs748692597
|
0.00001
|
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
|
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)
|
rs137853831
|
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.1183G>C (p.Ala395Pro)
|
rs62516103
|
0.00001
|
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
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.176A>T (p.Asp59Val)
|
rs199475672
|
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.36del (p.Arg13fs)
|
rs1878413079
|
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+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.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
|
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)
|
rs1448720360
|
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.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
|
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)
|
rs281865443
|
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.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.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.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
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.912+1G>A
|
rs62514956
|
0.00001
|
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
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.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_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
|
NM_000282.4(PCCA):c.415-2A>C
|
rs746286209
|
0.00001
|
|
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)
|
rs774457925
|
0.00001
|
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
|
NM_000284.4(PDHA1):c.900-2dup
|
rs779132922
|
0.00001
|
|
NM_000285.4(PEPD):c.563C>T (p.Thr188Met)
|
rs141623136
|
0.00001
|
|
NM_000286.3(PEX12):c.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
|
NM_000289.6(PFKM):c.733C>T (p.Arg245Cys)
|
rs1592742248
|
0.00001
|
|
NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg)
|
rs777137574
|
0.00001
|
|
NM_000292.3(PHKA2):c.3601T>C (p.Tyr1201His)
|
rs373407231
|
0.00001
|
|
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)
|
rs749441642
|
0.00001
|
|
NM_000293.3(PHKB):c.306-2A>G
|
rs797044442
|
0.00001
|
|
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter)
|
rs145166656
|
0.00001
|
|
NM_000294.3(PHKG2):c.1099C>T (p.Gln367Ter)
|
rs1320107162
|
0.00001
|
|
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)
|
rs767427889
|
0.00001
|
|
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys)
|
rs748344499
|
0.00001
|
|
NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg)
|
rs762431149
|
0.00001
|
|
NM_000302.4(PLOD1):c.741+4G>C
|
rs763641520
|
0.00001
|
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
0.00001
|
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
|
NM_000303.3(PMM2):c.256-1G>C
|
rs757394782
|
0.00001
|
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
|
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)
|
rs80338702
|
0.00001
|
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
|
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
|
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
|
rs949271895
|
0.00001
|
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
|
NM_000305.3(PON2):c.293G>A (p.Arg98Gln)
|
rs374262764
|
0.00001
|
|
NM_000305.3(PON2):c.900G>A (p.Ser300=)
|
rs191021241
|
0.00001
|
|
NM_000308.4(CTSA):c.1062G>A (p.Glu354=)
|
rs1568765243
|
0.00001
|
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
|
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)
|
rs137854541
|
0.00001
|
|
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)
|
rs143657539
|
0.00001
|
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
|
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)
|
rs369186379
|
0.00001
|
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
|
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
|
NM_000314.6(PTEN):c.-901G>A
|
rs1402130017
|
0.00001
|
|
NM_000314.6(PTEN):c.-904C>A
|
rs587779997
|
0.00001
|
|
NM_000314.6(PTEN):c.-912T>C
|
rs535142665
|
0.00001
|
|
NM_000314.6(PTEN):c.-917G>A
|
rs1469347068
|
0.00001
|
|
NM_000314.6(PTEN):c.-923C>T
|
rs786204936
|
0.00001
|
|
NM_000314.6(PTEN):c.-927C>G
|
rs1158800882
|
0.00001
|
|
NM_000314.8(PTEN):c.-784G>T
|
rs1036616021
|
0.00001
|
|
NM_000314.8(PTEN):c.-796C>T
|
rs1217530014
|
0.00001
|
|
NM_000314.8(PTEN):c.1003C>A (p.Arg335=)
|
rs121909231
|
0.00001
|
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
|
NM_000314.8(PTEN):c.321T>C (p.Asp107=)
|
rs372876243
|
0.00001
|
|
NM_000314.8(PTEN):c.606T>C (p.Thr202=)
|
rs1242879806
|
0.00001
|
|
NM_000314.8(PTEN):c.635-8C>A
|
rs780495238
|
0.00001
|
|
NM_000314.8(PTEN):c.738G>A (p.Pro246=)
|
rs774364894
|
0.00001
|
|
NM_000314.8(PTEN):c.79+7A>G
|
rs374331677
|
0.00001
|
|
NM_000314.8(PTEN):c.801+8C>G
|
rs1057517630
|
0.00001
|
|
NM_000314.8(PTEN):c.858C>G (p.Thr286=)
|
rs876660443
|
0.00001
|
|
NM_000317.3(PTS):c.104A>G (p.Glu35Gly)
|
rs1328320990
|
0.00001
|
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
|
NM_000318.3(PEX2):c.782A>G (p.His261Arg)
|
rs749956542
|
0.00001
|
|
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)
|
rs104893863
|
0.00001
|
|
NM_000321.3(RB1):c.-149G>T
|
rs1014776340
|
0.00001
|
|
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser)
|
rs751263356
|
0.00001
|
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
|
NM_000324.3(RHAG):c.1067+1G>A
|
rs1562012617
|
0.00001
|
|
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)
|
rs137853290
|
0.00001
|
|
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly)
|
rs749942889
|
0.00001
|
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
|
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)
|
rs80338789
|
0.00001
|
|
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile)
|
rs375844960
|
0.00001
|
|
NM_000334.4(SCN4A):c.4742A>G (p.Tyr1581Cys)
|
rs912147252
|
0.00001
|
|
NM_000335.5(SCN5A):c.1018C>T (p.Arg340Trp)
|
rs199473094
|
0.00001
|
|
NM_000335.5(SCN5A):c.1050C>T (p.His350=)
|
rs587781160
|
0.00001
|
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
|
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)
|
rs199473097
|
0.00001
|
|
NM_000335.5(SCN5A):c.1190T>C (p.Ile397Thr)
|
rs199473105
|
0.00001
|
|
NM_000335.5(SCN5A):c.1218C>T (p.Asn406=)
|
rs199473108
|
0.00001
|
|
NM_000335.5(SCN5A):c.1338+18C>T
|
rs761031894
|
0.00001
|
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
|
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)
|
rs199473124
|
0.00001
|
|
NM_000335.5(SCN5A):c.1707G>C (p.Arg569=)
|
rs747600514
|
0.00001
|
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
|
NM_000335.5(SCN5A):c.1981C>T (p.Arg661Trp)
|
rs199473139
|
0.00001
|
|
NM_000335.5(SCN5A):c.2081A>G (p.Tyr694Cys)
|
rs1438675647
|
0.00001
|
|
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)
|
rs199473050
|
0.00001
|
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
|
NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile)
|
rs772681454
|
0.00001
|
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
|
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys)
|
rs794728864
|
0.00001
|
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
|
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met)
|
rs527480102
|
0.00001
|
|
NM_000335.5(SCN5A):c.3503C>T (p.Thr1168Ile)
|
rs779305181
|
0.00001
|
|
NM_000335.5(SCN5A):c.3561G>T (p.Gly1187=)
|
rs17221875
|
0.00001
|
|
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)
|
rs137854618
|
0.00001
|
|
NM_000335.5(SCN5A):c.3909G>A (p.Thr1303=)
|
rs764462471
|
0.00001
|
|
NM_000335.5(SCN5A):c.4098A>G (p.Thr1366=)
|
rs563832893
|
0.00001
|
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
|
NM_000335.5(SCN5A):c.5034C>T (p.Phe1678=)
|
rs867169736
|
0.00001
|
|
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn)
|
rs1060499900
|
0.00001
|
|
NM_000335.5(SCN5A):c.5127G>A (p.Ser1709=)
|
rs758998714
|
0.00001
|
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
|
NM_000335.5(SCN5A):c.5536C>T (p.Arg1846Cys)
|
rs768246863
|
0.00001
|
|
NM_000335.5(SCN5A):c.5730C>T (p.Ala1910=)
|
rs781163189
|
0.00001
|
|
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)
|
rs397517957
|
0.00001
|
|
NM_000335.5(SCN5A):c.6024C>G (p.Asp2008Glu)
|
rs757114635
|
0.00001
|
|
NM_000335.5(SCN5A):c.610G>A (p.Ala204Thr)
|
rs1378168869
|
0.00001
|
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
|
NM_000335.5(SCN5A):c.703+11G>A
|
rs779138392
|
0.00001
|
|
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro)
|
rs199473564
|
0.00001
|
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
|
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)
|
rs566181541
|
0.00001
|
|
NM_000337.6(SGCD):c.340A>G (p.Ile114Val)
|
rs760206240
|
0.00001
|
|
NM_000338.3(SLC12A1):c.2755G>C (p.Asp919His)
|
rs772842522
|
0.00001
|
|
NM_000338.3(SLC12A1):c.595C>T (p.Arg199Cys)
|
rs780448089
|
0.00001
|
|
NM_000344.4(SMN1):c.835-33T>G
|
rs1335244738
|
0.00001
|
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
|
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln)
|
rs761380652
|
0.00001
|
|
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)
|
rs62642570
|
0.00001
|
|
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln)
|
rs752000268
|
0.00001
|
|
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)
|
rs61750061
|
0.00001
|
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
|
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)
|
rs61750137
|
0.00001
|
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
|
NM_000352.6(ABCC8):c.1176+2T>C
|
rs750586210
|
0.00001
|
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
|
NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile)
|
rs1955813180
|
0.00001
|
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
|
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)
|
rs775776658
|
0.00001
|
|
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)
|
rs1484689392
|
0.00001
|
|
NM_000352.6(ABCC8):c.2695-1G>C
|
rs1057517420
|
0.00001
|
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
0.00001
|
|
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)
|
rs776100468
|
0.00001
|
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
|
NM_000353.3(TAT):c.912+1G>A
|
rs2044196815
|
0.00001
|
|
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)
|
rs1296165092
|
0.00001
|
|
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)
|
rs202037016
|
0.00001
|
|
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)
|
rs543521135
|
0.00001
|
|
NM_000359.3(TGM1):c.2180G>A (p.Arg727Gln)
|
rs775373347
|
0.00001
|
|
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)
|
rs886041250
|
0.00001
|
|
NM_000359.3(TGM1):c.412G>A (p.Glu138Lys)
|
rs765478385
|
0.00001
|
|
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)
|
rs121918716
|
0.00001
|
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
|
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)
|
rs367699137
|
0.00001
|
|
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)
|
rs781006633
|
0.00001
|
|
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)
|
rs397514525
|
0.00001
|
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
|
NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)
|
rs766958196
|
0.00001
|
|
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser)
|
rs553214254
|
0.00001
|
|
NM_000363.5(TNNI3):c.373-17C>T
|
rs769481190
|
0.00001
|
|
NM_000363.5(TNNI3):c.417T>C (p.Phe139=)
|
rs1371643118
|
0.00001
|
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
|
NM_000363.5(TNNI3):c.550-12G>A
|
rs754944128
|
0.00001
|
|
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)
|
rs730881084
|
0.00001
|
|
NM_000368.5(TSC1):c.1059T>C (p.Cys353=)
|
rs1216537041
|
0.00001
|
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
|
NM_000368.5(TSC1):c.651A>G (p.Glu217=)
|
rs766250769
|
0.00001
|
|
NM_000369.5(TSHR):c.170+10C>T
|
rs139670361
|
0.00001
|
|
NM_000369.5(TSHR):c.692+3G>A
|
rs552128204
|
0.00001
|
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
|
NM_000371.4(TTR):c.147C>T (p.Ala49=)
|
rs11081703
|
0.00001
|
|
NM_000371.4(TTR):c.201-16C>T
|
rs941725460
|
0.00001
|
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
|
NM_000371.4(TTR):c.69G>A (p.Thr23=)
|
rs752579437
|
0.00001
|
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
|
NM_000380.4(XPA):c.390-1G>C
|
rs750218942
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
|
rs72547575
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His)
|
rs768290318
|
0.00001
|
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
0.00001
|
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
0.00001
|
|
NM_000384.3(APOB):c.10535C>T (p.Thr3512Ile)
|
rs145861016
|
0.00001
|
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
|
NM_000384.3(APOB):c.11585T>C (p.Ile3862Thr)
|
rs772015796
|
0.00001
|
|
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)
|
rs151340616
|
0.00001
|
|
NM_000387.6(SLC25A20):c.84del (p.His29fs)
|
rs587776760
|
0.00001
|
|
NM_000388.4(CASR):c.106G>A (p.Gly36Arg)
|
rs193922420
|
0.00001
|
|
NM_000388.4(CASR):c.1367A>G (p.Glu456Gly)
|
rs2074639185
|
0.00001
|
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
|
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)
|
rs193922423
|
0.00001
|
|
NM_000388.4(CASR):c.1861G>A (p.Val621Met)
|
rs751538967
|
0.00001
|
|
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)
|
rs767363250
|
0.00001
|
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
|
NM_000388.4(CASR):c.2147G>A (p.Arg716His)
|
rs201670662
|
0.00001
|
|
NM_000388.4(CASR):c.2295C>T (p.Cys765=)
|
rs1232096655
|
0.00001
|
|
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)
|
rs1060502856
|
0.00001
|
|
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr)
|
rs763865303
|
0.00001
|
|
NM_000388.4(CASR):c.269A>C (p.Asn90Thr)
|
rs193922439
|
0.00001
|
|
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)
|
rs769256610
|
0.00001
|
|
NM_000388.4(CASR):c.974G>A (p.Gly325Glu)
|
rs193922444
|
0.00001
|
|
NM_000391.4(TPP1):c.1076-17C>T
|
rs1258440716
|
0.00001
|
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
|
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
|
rs764256845
|
0.00001
|
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
|
NM_000391.4(TPP1):c.959T>G (p.Val320Gly)
|
rs1314521780
|
0.00001
|
|
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)
|
rs778385867
|
0.00001
|
|
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=)
|
rs770622592
|
0.00001
|
|
NM_000393.5(COL5A2):c.1563+5A>G
|
rs777118100
|
0.00001
|
|
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
|
rs754932150
|
0.00001
|
|
NM_000393.5(COL5A2):c.690+17T>C
|
rs1171215082
|
0.00001
|
|
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)
|
rs371277428
|
0.00001
|
|
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg)
|
rs750609110
|
0.00001
|
|
NM_000397.4(CYBB):c.1662dup (p.Glu555Ter)
|
rs1453468510
|
0.00001
|
|
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)
|
rs137854592
|
0.00001
|
|
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr)
|
rs1411740455
|
0.00001
|
|
NM_000400.4(ERCC2):c.1A>G (p.Met1Val)
|
rs757252017
|
0.00001
|
|
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)
|
rs121913023
|
0.00001
|
|
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg)
|
rs121913022
|
0.00001
|
|
NM_000400.4(ERCC2):c.595-10G>A
|
rs761737358
|
0.00001
|
|
NM_000400.4(ERCC2):c.732C>G (p.Ile244Met)
|
rs373375265
|
0.00001
|
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
|
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)
|
rs72555359
|
0.00001
|
|
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)
|
rs28934886
|
0.00001
|
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
|
NM_000404.4(GLB1):c.1480-2A>G
|
rs587776526
|
0.00001
|
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
|
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)
|
rs794727165
|
0.00001
|
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
|
NM_000404.4(GLB1):c.699del (p.Gln234fs)
|
rs1452318343
|
0.00001
|
|
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala)
|
rs377174858
|
0.00001
|
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
|
NM_000410.4(HFE):c.196C>T (p.Arg66Cys)
|
rs747739169
|
0.00001
|
|
NM_000410.4(HFE):c.283G>C (p.Asp95His)
|
rs750836160
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys)
|
rs752858179
|
0.00001
|
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
|
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)
|
rs771780974
|
0.00001
|
|
NM_000416.3(IFNGR1):c.411G>C (p.Glu137Asp)
|
rs746829359
|
0.00001
|
|
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val)
|
rs778059153
|
0.00001
|
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
|
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)
|
rs374403765
|
0.00001
|
|
NM_000426.4(LAMA2):c.3038-7G>A
|
rs767841898
|
0.00001
|
|
NM_000426.4(LAMA2):c.554G>T (p.Arg185Leu)
|
rs150586612
|
0.00001
|
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
|
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)
|
rs779326725
|
0.00001
|
|
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)
|
rs121913570
|
0.00001
|
|
NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys)
|
rs773267230
|
0.00001
|
|
NM_000430.4(PAFAH1B1):c.1046G>A (p.Gly349Glu)
|
rs1480224569
|
0.00001
|
|
NM_000433.4(NCF2):c.1026G>A (p.Lys342=)
|
rs1459123494
|
0.00001
|
|
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly)
|
rs398123392
|
0.00001
|
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
|
NM_000434.4(NEU1):c.692T>A (p.Leu231His)
|
rs762400331
|
0.00001
|
|
NM_000434.4(NEU1):c.838C>T (p.Arg280Ter)
|
rs945372017
|
0.00001
|
|
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln)
|
rs758877243
|
0.00001
|
|
NM_000434.4(NEU1):c.914G>A (p.Arg305His)
|
rs774362886
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys)
|
rs780791787
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1243A>G (p.Ser415Gly)
|
rs756818321
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly)
|
rs1057520369
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)
|
rs56017519
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser)
|
rs1057517303
|
0.00001
|
|
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)
|
rs1057518810
|
0.00001
|
|
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro)
|
rs121908365
|
0.00001
|
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
|
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
|
rs760413427
|
0.00001
|
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
|
NM_000441.2(SLC26A4):c.684C>G (p.Ala228=)
|
rs763221035
|
0.00001
|
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
|
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=)
|
rs765644650
|
0.00001
|
|
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln)
|
rs763807769
|
0.00001
|
|
NM_000443.4(ABCB4):c.2000C>T (p.Thr667Ile)
|
rs756777858
|
0.00001
|
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
|
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met)
|
rs753318087
|
0.00001
|
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
|
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val)
|
rs1554944856
|
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.2333G>A (p.Arg778Gln)
|
rs121918569
|
0.00001
|
|
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)
|
rs768860215
|
0.00001
|
|
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)
|
rs757797994
|
0.00001
|
|
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)
|
rs121918570
|
0.00001
|
|
NM_000448.3(RAG1):c.575G>A (p.Cys192Tyr)
|
rs752955928
|
0.00001
|
|
NM_000451.4(SHOX):c.199C>T (p.Pro67Ser)
|
rs200663078
|
0.00001
|
|
NM_000451.4(SHOX):c.347A>G (p.Lys116Arg)
|
rs193922466
|
0.00001
|
|
NM_000451.4(SHOX):c.400C>A (p.Arg134=)
|
rs193922467
|
0.00001
|
|
NM_000451.4(SHOX):c.414G>C (p.Glu138Asp)
|
rs750602920
|
0.00001
|
|
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)
|
rs137852552
|
0.00001
|
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
|
NM_000455.5(STK11):c.1015C>G (p.Pro339Ala)
|
rs769644352
|
0.00001
|
|
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu)
|
rs567896256
|
0.00001
|
|
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)
|
rs375431906
|
0.00001
|
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
|
NM_000455.5(STK11):c.1107C>T (p.Pro369=)
|
rs376069854
|
0.00001
|
|
NM_000455.5(STK11):c.1109-4C>T
|
rs1407794756
|
0.00001
|
|
NM_000455.5(STK11):c.1128G>A (p.Glu376=)
|
rs747018506
|
0.00001
|
|
NM_000455.5(STK11):c.1135C>A (p.His379Asn)
|
rs762124698
|
0.00001
|
|
NM_000455.5(STK11):c.1142G>C (p.Gly381Ala)
|
rs765419233
|
0.00001
|
|
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)
|
rs535449626
|
0.00001
|
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
|
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)
|
rs371102112
|
0.00001
|
|
NM_000455.5(STK11):c.1163A>G (p.Lys388Arg)
|
rs756877141
|
0.00001
|
|
NM_000455.5(STK11):c.116G>T (p.Arg39Leu)
|
rs786203250
|
0.00001
|
|
NM_000455.5(STK11):c.1175T>C (p.Met392Thr)
|
rs876661013
|
0.00001
|
|
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)
|
rs587780008
|
0.00001
|
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
|
NM_000455.5(STK11):c.1248G>C (p.Lys416Asn)
|
rs1459406168
|
0.00001
|
|
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)
|
rs587782687
|
0.00001
|
|
NM_000455.5(STK11):c.1278G>A (p.Arg426=)
|
rs201256614
|
0.00001
|
|
NM_000455.5(STK11):c.15C>T (p.Asp5=)
|
rs786201498
|
0.00001
|
|
NM_000455.5(STK11):c.279C>G (p.Ala93=)
|
rs786201852
|
0.00001
|
|
NM_000455.5(STK11):c.299A>G (p.Gln100Arg)
|
rs1060499957
|
0.00001
|
|
NM_000455.5(STK11):c.301C>G (p.Leu101Val)
|
rs587780716
|
0.00001
|
|
NM_000455.5(STK11):c.358G>A (p.Glu120Lys)
|
rs775595174
|
0.00001
|
|
NM_000455.5(STK11):c.396C>T (p.Cys132=)
|
rs730881969
|
0.00001
|
|
NM_000455.5(STK11):c.427G>A (p.Val143Met)
|
rs779987540
|
0.00001
|
|
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)
|
rs369764220
|
0.00001
|
|
NM_000455.5(STK11):c.441T>C (p.Arg147=)
|
rs786201456
|
0.00001
|
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
|
NM_000455.5(STK11):c.464+8del
|
rs878853989
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.594C>T (p.Ala198=)
|
rs772940660
|
0.00001
|
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
|
NM_000455.5(STK11):c.720G>A (p.Ser240=)
|
rs759743897
|
0.00001
|
|
NM_000455.5(STK11):c.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
|
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)
|
rs587782199
|
0.00001
|
|
NM_000455.5(STK11):c.839C>T (p.Pro280Leu)
|
rs1356762205
|
0.00001
|
|
NM_000455.5(STK11):c.846C>G (p.Leu282=)
|
rs777872290
|
0.00001
|
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
|
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)
|
rs751709130
|
0.00001
|
|
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)
|
rs755210880
|
0.00001
|
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
|
NM_000455.5(STK11):c.972G>A (p.Pro324=)
|
rs553474397
|
0.00001
|
|
NM_000455.5(STK11):c.991C>T (p.Arg331Trp)
|
rs876658594
|
0.00001
|
|
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe)
|
rs72551353
|
0.00001
|
|
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)
|
rs1283652721
|
0.00001
|
|
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr)
|
rs779527817
|
0.00001
|
|
NM_000465.4(BARD1):c.1009A>G (p.Arg337Gly)
|
rs1016845338
|
0.00001
|
|
NM_000465.4(BARD1):c.1013C>A (p.Thr338Asn)
|
rs587781313
|
0.00001
|
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
|
NM_000465.4(BARD1):c.1055T>C (p.Val352Ala)
|
rs773918507
|
0.00001
|
|
NM_000465.4(BARD1):c.1138A>G (p.Asn380Asp)
|
rs876658971
|
0.00001
|
|
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)
|
rs759370463
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1265T>C (p.Val422Ala)
|
rs76824305
|
0.00001
|
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
|
NM_000465.4(BARD1):c.1443C>T (p.Leu481=)
|
rs1286691671
|
0.00001
|
|
NM_000465.4(BARD1):c.1544C>G (p.Ser515Cys)
|
rs746878509
|
0.00001
|
|
NM_000465.4(BARD1):c.1568+10T>G
|
rs1375582645
|
0.00001
|
|
NM_000465.4(BARD1):c.1569-9T>C
|
rs753153934
|
0.00001
|
|
NM_000465.4(BARD1):c.15G>C (p.Arg5=)
|
rs769204862
|
0.00001
|
|
NM_000465.4(BARD1):c.1626A>G (p.Leu542=)
|
rs786201551
|
0.00001
|
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
|
NM_000465.4(BARD1):c.1689G>A (p.Gly563=)
|
rs762745326
|
0.00001
|
|
NM_000465.4(BARD1):c.1704A>G (p.Gly568=)
|
rs1057520238
|
0.00001
|
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
|
NM_000465.4(BARD1):c.171G>C (p.Leu57=)
|
rs876659045
|
0.00001
|
|
NM_000465.4(BARD1):c.1721G>T (p.Gly574Val)
|
rs1218730514
|
0.00001
|
|
NM_000465.4(BARD1):c.1729C>T (p.Leu577=)
|
rs749756887
|
0.00001
|
|
NM_000465.4(BARD1):c.1731G>A (p.Leu577=)
|
rs863224364
|
0.00001
|
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
|
NM_000465.4(BARD1):c.1960C>T (p.Pro654Ser)
|
rs876658741
|
0.00001
|
|
NM_000465.4(BARD1):c.2054A>G (p.His685Arg)
|
rs368488821
|
0.00001
|
|
NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly)
|
rs1060501312
|
0.00001
|
|
NM_000465.4(BARD1):c.2071C>T (p.Leu691Phe)
|
rs1036838204
|
0.00001
|
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
|
NM_000465.4(BARD1):c.2145G>A (p.Gln715=)
|
rs760541330
|
0.00001
|
|
NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala)
|
rs878854006
|
0.00001
|
|
NM_000465.4(BARD1):c.2209A>G (p.Ile737Val)
|
rs761655616
|
0.00001
|
|
NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)
|
rs34677017
|
0.00001
|
|
NM_000465.4(BARD1):c.2253G>T (p.Arg751=)
|
rs750001065
|
0.00001
|
|
NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg)
|
rs755369095
|
0.00001
|
|
NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly)
|
rs730881426
|
0.00001
|
|
NM_000465.4(BARD1):c.2324T>A (p.Leu775His)
|
rs907023461
|
0.00001
|
|
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)
|
rs587782046
|
0.00001
|
|
NM_000465.4(BARD1):c.300A>G (p.Gln100=)
|
rs977731407
|
0.00001
|
|
NM_000465.4(BARD1):c.304G>A (p.Asp102Asn)
|
rs140254589
|
0.00001
|
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
|
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln)
|
rs587781591
|
0.00001
|
|
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)
|
rs878854011
|
0.00001
|
|
NM_000465.4(BARD1):c.407C>T (p.Ala136Val)
|
rs1553622698
|
0.00001
|
|
NM_000465.4(BARD1):c.427A>G (p.Ile143Val)
|
rs1060501289
|
0.00001
|
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
|
NM_000465.4(BARD1):c.449G>A (p.Arg150Gln)
|
rs730881412
|
0.00001
|
|
NM_000465.4(BARD1):c.49G>A (p.Gly17Arg)
|
rs746495820
|
0.00001
|
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
|
NM_000465.4(BARD1):c.583G>T (p.Ala195Ser)
|
rs755641562
|
0.00001
|
|
NM_000465.4(BARD1):c.586A>G (p.Lys196Glu)
|
rs376259263
|
0.00001
|
|
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg)
|
rs587782437
|
0.00001
|
|
NM_000465.4(BARD1):c.65C>T (p.Ser22Phe)
|
rs876659724
|
0.00001
|
|
NM_000465.4(BARD1):c.882G>A (p.Arg294=)
|
rs778855056
|
0.00001
|
|
NM_000465.4(BARD1):c.928T>G (p.Ser310Ala)
|
rs886041139
|
0.00001
|
|
NM_000465.4(BARD1):c.95G>T (p.Gly32Val)
|
rs587782675
|
0.00001
|
|
NM_000465.4(BARD1):c.964C>T (p.Arg322Cys)
|
rs786203129
|
0.00001
|
|
NM_000465.4(BARD1):c.965G>A (p.Arg322His)
|
rs774251286
|
0.00001
|
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
0.00001
|
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
|
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)
|
rs745852247
|
0.00001
|
|
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)
|
rs1382219911
|
0.00001
|
|
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
|
rs121918008
|
0.00001
|
|
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)
|
rs746390776
|
0.00001
|
|
NM_000478.6(ALPL):c.1182dup (p.Ile395fs)
|
rs754826836
|
0.00001
|
|
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)
|
rs772682471
|
0.00001
|
|
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp)
|
rs1400042777
|
0.00001
|
|
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)
|
rs770093969
|
0.00001
|
|
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter)
|
rs759017288
|
0.00001
|
|
NM_000478.6(ALPL):c.1349G>A (p.Arg450His)
|
rs150799088
|
0.00001
|
|
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)
|
rs966212736
|
0.00001
|
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
|
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)
|
rs780857373
|
0.00001
|
|
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val)
|
rs886044912
|
0.00001
|
|
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)
|
rs1413274209
|
0.00001
|
|
NM_000478.6(ALPL):c.1559del (p.Leu520fs)
|
rs387906525
|
0.00001
|
|
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)
|
rs773257111
|
0.00001
|
|
NM_000478.6(ALPL):c.530C>T (p.Ala177Val)
|
rs1114167438
|
0.00001
|
|
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)
|
rs121918000
|
0.00001
|
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
|
NM_000478.6(ALPL):c.648+1G>A
|
rs749544042
|
0.00001
|
|
NM_000478.6(ALPL):c.650T>C (p.Val217Ala)
|
rs777699004
|
0.00001
|
|
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)
|
rs786204442
|
0.00001
|
|
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)
|
rs786204634
|
0.00001
|
|
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)
|
rs121918020
|
0.00001
|
|
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)
|
rs768555495
|
0.00001
|
|
NM_000478.6(ALPL):c.997+1G>T
|
rs1292415045
|
0.00001
|
|
NM_000478.6(ALPL):c.997+2T>A
|
rs1057517391
|
0.00001
|
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
|
NM_000486.6(AQP2):c.375G>A (p.Thr125=)
|
rs772192893
|
0.00001
|
|
NM_000486.6(AQP2):c.560G>A (p.Arg187His)
|
rs193922495
|
0.00001
|
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
|
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)
|
rs199476370
|
0.00001
|
|
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)
|
rs74315480
|
0.00001
|
|
NM_000487.6(ARSA):c.1210+1G>A
|
rs80338820
|
0.00001
|
|
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg)
|
rs375493957
|
0.00001
|
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
|
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)
|
rs867538940
|
0.00001
|
|
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)
|
rs199476352
|
0.00001
|
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
|
NM_000487.6(ARSA):c.684+1G>A
|
rs146371968
|
0.00001
|
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
|
NM_000487.6(ARSA):c.855-1G>A
|
rs754898479
|
0.00001
|
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00001
|
|
NM_000487.6(ARSA):c.989A>G (p.His330Arg)
|
rs1359332879
|
0.00001
|
|
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln)
|
rs1557142053
|
0.00001
|
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
|
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)
|
rs1569528833
|
0.00001
|
|
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs)
|
rs397508138
|
0.00001
|
|
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)
|
rs77409459
|
0.00001
|
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
|
NM_000492.4(CFTR):c.1081del (p.Trp361fs)
|
rs387906361
|
0.00001
|
|
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg)
|
rs768589673
|
0.00001
|
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
|
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)
|
rs748642635
|
0.00001
|
|
NM_000492.4(CFTR):c.1393-2A>G
|
rs397508201
|
0.00001
|
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
|
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile)
|
rs143218779
|
0.00001
|
|
NM_000492.4(CFTR):c.142A>C (p.Asn48His)
|
rs1248202161
|
0.00001
|
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
|
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)
|
rs1554384431
|
0.00001
|
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
|
NM_000492.4(CFTR):c.1584+1G>A
|
rs397508230
|
0.00001
|
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
|
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)
|
rs148173473
|
0.00001
|
|
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)
|
rs144745159
|
0.00001
|
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
|
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)
|
rs193922504
|
0.00001
|
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
|
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)
|
rs121909006
|
0.00001
|
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
|
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser)
|
rs397508308
|
0.00001
|
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
|
NM_000492.4(CFTR):c.2112A>G (p.Pro704=)
|
rs926782023
|
0.00001
|
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
|
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)
|
rs397508342
|
0.00001
|
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
|
NM_000492.4(CFTR):c.2220A>G (p.Pro740=)
|
rs1792044298
|
0.00001
|
|
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)
|
rs138634146
|
0.00001
|
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
|
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln)
|
rs1417904716
|
0.00001
|
|
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu)
|
rs397508365
|
0.00001
|
|
NM_000492.4(CFTR):c.234dup (p.Trp79fs)
|
rs1189377616
|
0.00001
|
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
|
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe)
|
rs1314080734
|
0.00001
|
|
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys)
|
rs1792049376
|
0.00001
|
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
|
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)
|
rs778688276
|
0.00001
|
|
NM_000492.4(CFTR):c.2469A>T (p.Glu823Asp)
|
rs777667933
|
0.00001
|
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
|
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)
|
rs397508393
|
0.00001
|
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
|
NM_000492.4(CFTR):c.2619+17G>T
|
rs1439697748
|
0.00001
|
|
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)
|
rs1472821278
|
0.00001
|
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
|
NM_000492.4(CFTR):c.273+1G>A
|
rs121908791
|
0.00001
|
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
|
NM_000492.4(CFTR):c.274-13T>C
|
rs1021474992
|
0.00001
|
|
NM_000492.4(CFTR):c.2766A>G (p.Val922=)
|
rs762906556
|
0.00001
|
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
|
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)
|
rs780528577
|
0.00001
|
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
|
NM_000492.4(CFTR):c.2810dup (p.Val938fs)
|
rs193922510
|
0.00001
|
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
|
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val)
|
rs397508448
|
0.00001
|
|
NM_000492.4(CFTR):c.2908+4C>A
|
rs372266030
|
0.00001
|
|
NM_000492.4(CFTR):c.2909-99del
|
rs1213436263
|
0.00001
|
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
|
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)
|
rs370181570
|
0.00001
|
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
|
NM_000492.4(CFTR):c.2988+13A>T
|
rs1182945291
|
0.00001
|
|
NM_000492.4(CFTR):c.2988+20G>A
|
rs183819332
|
0.00001
|
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
|
NM_000492.4(CFTR):c.3139+19G>A
|
rs751210436
|
0.00001
|
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
|
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)
|
rs140883683
|
0.00001
|
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
|
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)
|
rs150020260
|
0.00001
|
|
NM_000492.4(CFTR):c.3273G>C (p.Leu1091Phe)
|
rs752753702
|
0.00001
|
|
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)
|
rs764434414
|
0.00001
|
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
|
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=)
|
rs746620950
|
0.00001
|
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
|
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly)
|
rs397508549
|
0.00001
|
|
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val)
|
rs755472768
|
0.00001
|
|
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr)
|
rs755968404
|
0.00001
|
|
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val)
|
rs1562916044
|
0.00001
|
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
|
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro)
|
rs762167681
|
0.00001
|
|
NM_000492.4(CFTR):c.357C>T (p.Ile119=)
|
rs1264742569
|
0.00001
|
|
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)
|
rs121908763
|
0.00001
|
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
|
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)
|
rs121908765
|
0.00001
|
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
|
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val)
|
rs770358073
|
0.00001
|
|
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg)
|
rs397508594
|
0.00001
|
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
|
NM_000492.4(CFTR):c.3763T>A (p.Ser1255Thr)
|
rs121909041
|
0.00001
|
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
|
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg)
|
rs766370233
|
0.00001
|
|
NM_000492.4(CFTR):c.3808del (p.Asp1270fs)
|
rs763843966
|
0.00001
|
|
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr)
|
rs397508619
|
0.00001
|
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
|
NM_000492.4(CFTR):c.3903A>G (p.Arg1301=)
|
rs774683612
|
0.00001
|
|
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu)
|
rs193922732
|
0.00001
|
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
|
NM_000492.4(CFTR):c.3963+6G>T
|
rs1793110791
|
0.00001
|
|
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)
|
rs886061952
|
0.00001
|
|
NM_000492.4(CFTR):c.4028G>T (p.Gly1343Val)
|
rs773458471
|
0.00001
|
|
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile)
|
rs1371379517
|
0.00001
|
|
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr)
|
rs955306189
|
0.00001
|
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
0.00001
|
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
|
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu)
|
rs397508677
|
0.00001
|
|
NM_000492.4(CFTR):c.4136+52del
|
rs779110970
|
0.00001
|
|
NM_000492.4(CFTR):c.4137-7T>C
|
rs1400171855
|
0.00001
|
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
|
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu)
|
rs142092183
|
0.00001
|
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
|
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)
|
rs1554397750
|
0.00001
|
|
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)
|
rs397508708
|
0.00001
|
|
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)
|
rs762847468
|
0.00001
|
|
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)
|
rs750559671
|
0.00001
|
|
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)
|
rs397508711
|
0.00001
|
|
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)
|
rs975983947
|
0.00001
|
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
|
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)
|
rs1325117166
|
0.00001
|
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
|
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe)
|
rs1267579802
|
0.00001
|
|
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr)
|
rs397508747
|
0.00001
|
|
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
|
rs374163420
|
0.00001
|
|
NM_000492.4(CFTR):c.579+4del
|
rs745591601
|
0.00001
|
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
|
NM_000492.4(CFTR):c.580-2A>G
|
rs193922730
|
0.00001
|
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
|
NM_000492.4(CFTR):c.720A>G (p.Leu240=)
|
rs1344097861
|
0.00001
|
|
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg)
|
rs397508789
|
0.00001
|
|
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile)
|
rs377514639
|
0.00001
|
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
|
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter)
|
rs397508808
|
0.00001
|
|
NM_000492.4(CFTR):c.869+14A>G
|
rs1554380834
|
0.00001
|
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
|
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)
|
rs148013312
|
0.00001
|
|
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
|
NM_000492.4(CFTR):c.972C>G (p.Pro324=)
|
rs1799834
|
0.00001
|
|
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg)
|
rs141115171
|
0.00001
|
|
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn)
|
rs397508825
|
0.00001
|
|
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)
|
rs104894069
|
0.00001
|
|
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
|
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile)
|
rs193922539
|
0.00001
|
|
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
|
rs193922540
|
0.00001
|
|
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu)
|
rs370266763
|
0.00001
|
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
|
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys)
|
rs757608533
|
0.00001
|
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
0.00001
|
|
NM_000508.3(FGA):c.103C>T (p.Arg35Cys)
|
rs121909606
|
0.00001
|
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
|
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)
|
rs781439830
|
0.00001
|
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
|
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln)
|
rs769560969
|
0.00001
|
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
|
NM_000512.5(GALNS):c.899-1G>C
|
rs745523154
|
0.00001
|
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
0.00001
|
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
|
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)
|
rs41529844
|
0.00001
|
|
NM_000517.6(HBA2):c.414C>T (p.Thr138=)
|
rs371394396
|
0.00001
|
|
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)
|
rs1468615416
|
0.00001
|
|
NM_000518.4(HBB):c.-71G>A
|
rs1554918264
|
0.00001
|
|
NM_000518.4(HBB):c.-83G>T
|
rs1160543272
|
0.00001
|
|
NM_000518.4(HBB):c.149C>T (p.Ser50Phe)
|
rs33960931
|
0.00001
|
|
NM_000518.4(HBB):c.23A>G (p.Glu8Gly)
|
rs34387455
|
0.00001
|
|
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)
|
rs33935383
|
0.00001
|
|
NM_000518.4(HBB):c.374C>G (p.Pro125Arg)
|
rs33983276
|
0.00001
|
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
|
NM_000518.4(HBB):c.430C>T (p.His144Tyr)
|
rs33929415
|
0.00001
|
|
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)
|
rs33935445
|
0.00001
|
|
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)
|
rs33936254
|
0.00001
|
|
NM_000518.5(HBB):c.*104G>A
|
rs1564873881
|
0.00001
|
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
|
NM_000518.5(HBB):c.*62A>G
|
rs1046868746
|
0.00001
|
|
NM_000518.5(HBB):c.*74A>G
|
rs369101035
|
0.00001
|
|
NM_000518.5(HBB):c.*97G>C
|
rs770911771
|
0.00001
|
|
NM_000518.5(HBB):c.-100G>A
|
rs281864524
|
0.00001
|
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
|
NM_000518.5(HBB):c.-136C>T
|
rs33994806
|
0.00001
|
|
NM_000518.5(HBB):c.-15C>A
|
rs193922550
|
0.00001
|
|
NM_000518.5(HBB):c.-4C>T
|
rs1035531758
|
0.00001
|
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
|
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)
|
rs33974936
|
0.00001
|
|
NM_000518.5(HBB):c.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
|
NM_000518.5(HBB):c.144T>C (p.Asp48=)
|
rs754454495
|
0.00001
|
|
NM_000518.5(HBB):c.165T>C (p.Val55=)
|
rs760975738
|
0.00001
|
|
NM_000518.5(HBB):c.171C>T (p.Gly57=)
|
rs193922551
|
0.00001
|
|
NM_000518.5(HBB):c.174C>T (p.Asn58=)
|
rs35278874
|
0.00001
|
|
NM_000518.5(HBB):c.217dup (p.Ser73fs)
|
rs33969853
|
0.00001
|
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
|
NM_000518.5(HBB):c.27G>A (p.Lys9=)
|
rs35198910
|
0.00001
|
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
|
NM_000518.5(HBB):c.309C>A (p.Asn103Lys)
|
rs34227486
|
0.00001
|
|
NM_000518.5(HBB):c.316-102C>A
|
rs1468940510
|
0.00001
|
|
NM_000518.5(HBB):c.316-114C>A
|
rs1003790835
|
0.00001
|
|
NM_000518.5(HBB):c.316-124A>T
|
rs1184042209
|
0.00001
|
|
NM_000518.5(HBB):c.316-130T>C
|
rs956857115
|
0.00001
|
|
NM_000518.5(HBB):c.316-138G>A
|
rs1444028845
|
0.00001
|
|
NM_000518.5(HBB):c.316-145G>A
|
rs1005042281
|
0.00001
|
|
NM_000518.5(HBB):c.316-184T>C
|
rs193922557
|
0.00001
|
|
NM_000518.5(HBB):c.316-99T>G
|
rs1232651664
|
0.00001
|
|
NM_000518.5(HBB):c.327C>T (p.Asn109=)
|
rs34933751
|
0.00001
|
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
|
NM_000518.5(HBB):c.353A>G (p.His118Arg)
|
rs33935673
|
0.00001
|
|
NM_000518.5(HBB):c.380T>C (p.Val127Ala)
|
rs33925391
|
0.00001
|
|
NM_000518.5(HBB):c.45G>A (p.Leu15=)
|
rs762782573
|
0.00001
|
|
NM_000518.5(HBB):c.48G>A (p.Trp16Ter)
|
rs34716011
|
0.00001
|
|
NM_000518.5(HBB):c.92+2T>C
|
rs33956879
|
0.00001
|
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
|
NM_000518.5(HBB):c.93-15T>C
|
rs35456885
|
0.00001
|
|
NM_000518.5(HBB):c.93-24A>G
|
rs773687221
|
0.00001
|
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
|
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
|
rs786204585
|
0.00001
|
|
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
|
rs745432499
|
0.00001
|
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
|
NM_000520.6(HEXA):c.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
|
NM_000520.6(HEXA):c.574G>A (p.Val192Ile)
|
rs387906310
|
0.00001
|
|
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)
|
rs1555475519
|
0.00001
|
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
|
NM_000520.6(HEXA):c.805+1G>C
|
rs121907980
|
0.00001
|
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
0.00001
|
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
|
NM_000521.4(HEXB):c.1508+1G>A
|
rs758459585
|
0.00001
|
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
|
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)
|
rs778501777
|
0.00001
|
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
|
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln)
|
rs759538325
|
0.00001
|
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
|
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu)
|
rs762821794
|
0.00001
|
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
|
NM_000527.5(LDLR):c.1023C>T (p.Pro341=)
|
rs376267007
|
0.00001
|
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
|
NM_000527.5(LDLR):c.1060+18C>A
|
rs780579614
|
0.00001
|
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
|
NM_000527.5(LDLR):c.1186+10G>C
|
rs781336025
|
0.00001
|
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
|
NM_000527.5(LDLR):c.1239G>A (p.Thr413=)
|
rs777011006
|
0.00001
|
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
|
NM_000527.5(LDLR):c.1284C>T (p.Asn428=)
|
rs368708058
|
0.00001
|
|
NM_000527.5(LDLR):c.1302G>A (p.Thr434=)
|
rs534782075
|
0.00001
|
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
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.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
|
NM_000527.5(LDLR):c.1854A>G (p.Val618=)
|
rs1248760084
|
0.00001
|
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
|
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe)
|
rs1555807266
|
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.2075C>G (p.Pro692Arg)
|
rs1568611894
|
0.00001
|
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
|
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)
|
rs766903209
|
0.00001
|
|
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
|
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala)
|
rs1317204420
|
0.00001
|
|
NM_000527.5(LDLR):c.447T>C (p.Gly149=)
|
rs765386678
|
0.00001
|
|
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)
|
rs763233960
|
0.00001
|
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
|
NM_000527.5(LDLR):c.694+8C>T
|
rs370855899
|
0.00001
|
|
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)
|
rs879254672
|
0.00001
|
|
NM_000527.5(LDLR):c.774A>G (p.Glu258=)
|
rs1307291980
|
0.00001
|
|
NM_000527.5(LDLR):c.783C>T (p.Cys261=)
|
rs1057519663
|
0.00001
|
|
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682
|
0.00001
|
|
NM_000527.5(LDLR):c.811G>A (p.Val271Ile)
|
rs749220643
|
0.00001
|
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
|
NM_000527.5(LDLR):c.941-5C>T
|
rs750183389
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1645-2A>T
|
rs891030696
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)
|
rs1429239930
|
0.00001
|
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
|
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)
|
rs543676323
|
0.00001
|
|
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu)
|
rs370066853
|
0.00001
|
|
NM_000535.7(PMS2):c.1095T>C (p.Ser365=)
|
rs763278132
|
0.00001
|
|
NM_000535.7(PMS2):c.1113T>C (p.Asn371=)
|
rs989130272
|
0.00001
|
|
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser)
|
rs730881911
|
0.00001
|
|
NM_000535.7(PMS2):c.114G>A (p.Ala38=)
|
rs558032755
|
0.00001
|
|
NM_000535.7(PMS2):c.1167A>G (p.Ala389=)
|
rs748920792
|
0.00001
|
|
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys)
|
rs1243063129
|
0.00001
|
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
|
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys)
|
rs587782175
|
0.00001
|
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00001
|
|
NM_000535.7(PMS2):c.1368T>C (p.Ser456=)
|
rs587780723
|
0.00001
|
|
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala)
|
rs1339878885
|
0.00001
|
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
|
NM_000535.7(PMS2):c.1515G>A (p.Gly505=)
|
rs753856135
|
0.00001
|
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
|
NM_000535.7(PMS2):c.1587G>A (p.Ser529=)
|
rs786201709
|
0.00001
|
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
|
NM_000535.7(PMS2):c.1674C>T (p.Thr558=)
|
rs876658134
|
0.00001
|
|
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser)
|
rs370455197
|
0.00001
|
|
NM_000535.7(PMS2):c.1687C>A (p.Arg563=)
|
rs587778618
|
0.00001
|
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
|
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)
|
rs758018736
|
0.00001
|
|
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp)
|
rs142506484
|
0.00001
|
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
|
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala)
|
rs1404270894
|
0.00001
|
|
NM_000535.7(PMS2):c.2007-9T>C
|
rs1194759833
|
0.00001
|
|
NM_000535.7(PMS2):c.2013G>A (p.Thr671=)
|
rs771513870
|
0.00001
|
|
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr)
|
rs587782553
|
0.00001
|
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
|
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)
|
rs1554295876
|
0.00001
|
|
NM_000535.7(PMS2):c.2109G>A (p.Thr703=)
|
rs775355718
|
0.00001
|
|
NM_000535.7(PMS2):c.2112C>T (p.Asp704=)
|
rs764735061
|
0.00001
|
|
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys)
|
rs1060503131
|
0.00001
|
|
NM_000535.7(PMS2):c.2148C>T (p.Thr716=)
|
rs748404138
|
0.00001
|
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
|
NM_000535.7(PMS2):c.2175-9G>A
|
rs1057522324
|
0.00001
|
|
NM_000535.7(PMS2):c.2175A>G (p.Ala725=)
|
rs769116749
|
0.00001
|
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
|
NM_000535.7(PMS2):c.2265C>T (p.Ile755=)
|
rs145646046
|
0.00001
|
|
NM_000535.7(PMS2):c.2346C>T (p.Asp782=)
|
rs139031103
|
0.00001
|
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
|
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)
|
rs368737800
|
0.00001
|
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
|
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)
|
rs547715146
|
0.00001
|
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
|
NM_000535.7(PMS2):c.243A>G (p.Glu81=)
|
rs1057521802
|
0.00001
|
|
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser)
|
rs754191682
|
0.00001
|
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
|
NM_000535.7(PMS2):c.251-9C>G
|
rs1064793639
|
0.00001
|
|
NM_000535.7(PMS2):c.2526C>G (p.Asn842Lys)
|
rs755478893
|
0.00001
|
|
NM_000535.7(PMS2):c.27A>C (p.Thr9=)
|
rs1060504842
|
0.00001
|
|
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn)
|
rs1395998044
|
0.00001
|
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
|
NM_000535.7(PMS2):c.353+3G>A
|
rs766373982
|
0.00001
|
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
|
NM_000535.7(PMS2):c.354-7C>T
|
rs758471869
|
0.00001
|
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
|
NM_000535.7(PMS2):c.403C>G (p.Leu135Val)
|
rs876658423
|
0.00001
|
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
|
NM_000535.7(PMS2):c.630A>G (p.Lys210=)
|
rs765847615
|
0.00001
|
|
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe)
|
rs730881908
|
0.00001
|
|
NM_000535.7(PMS2):c.706-2A>G
|
rs745487791
|
0.00001
|
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
|
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg)
|
rs1173245928
|
0.00001
|
|
NM_000535.7(PMS2):c.750C>T (p.Ser250=)
|
rs200439295
|
0.00001
|
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
|
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr)
|
rs1259974071
|
0.00001
|
|
NM_000535.7(PMS2):c.795T>C (p.Asn265=)
|
rs766667186
|
0.00001
|
|
NM_000535.7(PMS2):c.803+9A>G
|
rs1784516917
|
0.00001
|
|
NM_000535.7(PMS2):c.804-15A>G
|
rs1448706115
|
0.00001
|
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
|
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)
|
rs375507981
|
0.00001
|
|
NM_000535.7(PMS2):c.934A>G (p.Met312Val)
|
rs786202567
|
0.00001
|
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
|
NM_000536.4(RAG2):c.1006A>G (p.Lys336Glu)
|
rs1490516072
|
0.00001
|
|
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)
|
rs193922573
|
0.00001
|
|
NM_000536.4(RAG2):c.328A>C (p.Met110Leu)
|
rs193922575
|
0.00001
|
|
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln)
|
rs113332073
|
0.00001
|
|
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser)
|
rs373301841
|
0.00001
|
|
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn)
|
rs780145264
|
0.00001
|
|
NM_000540.3(RYR1):c.328C>T (p.His110Tyr)
|
rs767777113
|
0.00001
|
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
|
NM_000540.3(RYR1):c.6797-7C>T
|
rs994688451
|
0.00001
|
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
|
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys)
|
rs112772310
|
0.00001
|
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
|
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)
|
rs755160837
|
0.00001
|
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
|
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)
|
rs1554935371
|
0.00001
|
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
0.00001
|
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
|
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)
|
rs120074119
|
0.00001
|
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
|
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln)
|
rs1397949984
|
0.00001
|
|
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser)
|
rs373475928
|
0.00001
|
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
|
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)
|
rs1554934212
|
0.00001
|
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
|
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)
|
rs761308217
|
0.00001
|
|
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg)
|
rs368683806
|
0.00001
|
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
|
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)
|
rs756416683
|
0.00001
|
|
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)
|
rs1480672278
|
0.00001
|
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
0.00001
|
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
|
NM_000545.8(HNF1A):c.955G>A (p.Gly319Ser)
|
rs137853240
|
0.00001
|
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
|
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)
|
rs375338359
|
0.00001
|
|
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)
|
rs766786605
|
0.00001
|
|
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)
|
rs786203298
|
0.00001
|
|
NM_000546.6(TP53):c.1150A>G (p.Met384Val)
|
rs730882009
|
0.00001
|
|
NM_000546.6(TP53):c.123T>C (p.Asp41=)
|
rs369129220
|
0.00001
|
|
NM_000546.6(TP53):c.12G>A (p.Pro4=)
|
rs876658274
|
0.00001
|
|
NM_000546.6(TP53):c.145G>A (p.Asp49Asn)
|
rs587780728
|
0.00001
|
|
NM_000546.6(TP53):c.188C>T (p.Ala63Val)
|
rs372201428
|
0.00001
|
|
NM_000546.6(TP53):c.270C>T (p.Ser90=)
|
rs863224370
|
0.00001
|
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
|
NM_000546.6(TP53):c.354A>T (p.Thr118=)
|
rs751978853
|
0.00001
|
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
|
NM_000546.6(TP53):c.376-2dup
|
rs751253294
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
|
NM_000546.6(TP53):c.566C>T (p.Ala189Val)
|
rs121912665
|
0.00001
|
|
NM_000546.6(TP53):c.587G>A (p.Arg196Gln)
|
rs483352697
|
0.00001
|
|
NM_000546.6(TP53):c.606T>C (p.Arg202=)
|
rs1392931620
|
0.00001
|
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
|
NM_000546.6(TP53):c.782+10C>T
|
rs200277687
|
0.00001
|
|
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)
|
rs587780075
|
0.00001
|
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_000546.6(TP53):c.867C>T (p.Leu289=)
|
rs778138282
|
0.00001
|
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
|
NM_000546.6(TP53):c.891C>T (p.His297=)
|
rs750578863
|
0.00001
|
|
NM_000546.6(TP53):c.919+7A>C
|
rs199527475
|
0.00001
|
|
NM_000546.6(TP53):c.943T>A (p.Ser315Thr)
|
rs762620193
|
0.00001
|
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
|
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)
|
rs760205499
|
0.00001
|
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
|
NM_000548.5(TSC2):c.1911C>T (p.Val637=)
|
rs543584836
|
0.00001
|
|
NM_000548.5(TSC2):c.2098-9T>C
|
rs755416873
|
0.00001
|
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
|
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)
|
rs767755750
|
0.00001
|
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00001
|
|
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln)
|
rs746588726
|
0.00001
|
|
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)
|
rs767495365
|
0.00001
|
|
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)
|
rs1051758
|
0.00001
|
|
NM_000548.5(TSC2):c.5343A>G (p.Pro1781=)
|
rs747614356
|
0.00001
|
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
|
NM_000551.4(VHL):c.338G>C (p.Arg113Pro)
|
rs767062290
|
0.00001
|
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
|
NM_000551.4(VHL):c.538A>G (p.Ile180Val)
|
rs377715747
|
0.00001
|
|
NM_000552.5(VWF):c.1319G>A (p.Cys440Tyr)
|
rs372938917
|
0.00001
|
|
NM_000552.5(VWF):c.1730-5C>T
|
rs569984866
|
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.3613C>T (p.Arg1205Cys)
|
rs373787920
|
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.55G>A (p.Gly19Arg)
|
rs61753983
|
0.00001
|
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
|
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
|
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
|
rs758182700
|
0.00001
|
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
|
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)
|
rs765367405
|
0.00001
|
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
|
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
|
rs773384152
|
0.00001
|
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
|
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)
|
rs755747010
|
0.00001
|
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
|
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu)
|
rs145701604
|
0.00001
|
|
NM_000702.4(ATP1A2):c.681C>T (p.Pro227=)
|
rs771930383
|
0.00001
|
|
NM_000702.4(ATP1A2):c.813C>T (p.Leu271=)
|
rs747740289
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
|
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys)
|
rs367823977
|
0.00001
|
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
|
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
|
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=)
|
rs750843602
|
0.00001
|
|
NM_000719.7(CACNA1C):c.1508+16G>A
|
rs1358258790
|
0.00001
|
|
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)
|
rs1057517711
|
0.00001
|
|
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)
|
rs1391136601
|
0.00001
|
|
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=)
|
rs1336965329
|
0.00001
|
|
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His)
|
rs189719120
|
0.00001
|
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
|
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=)
|
rs561224137
|
0.00001
|
|
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=)
|
rs1291974001
|
0.00001
|
|
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=)
|
rs768208850
|
0.00001
|
|
NM_000733.4(CD3E):c.70+4del
|
rs193922619
|
0.00001
|
|
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu)
|
rs771841066
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1464+10G>T
|
rs749942986
|
0.00001
|
|
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
|
rs544814869
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
|
NM_000784.4(CYP27A1):c.69C>T (p.His23=)
|
rs1444634924
|
0.00001
|
|
NM_000810.4(GABRA5):c.86+1G>A
|
rs375945386
|
0.00001
|
|
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp)
|
rs771568810
|
0.00001
|
|
NM_000829.4(GRIA4):c.614A>G (p.Gln205Arg)
|
rs769158689
|
0.00001
|
|
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser)
|
rs748965398
|
0.00001
|
|
NM_000875.5(IGF1R):c.-4A>G
|
rs2052295004
|
0.00001
|
|
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val)
|
rs1389181295
|
0.00001
|
|
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)
|
rs997406384
|
0.00001
|
|
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=)
|
rs773272852
|
0.00001
|
|
NM_000937.5(POLR2A):c.4223G>A (p.Arg1408His)
|
rs1357998618
|
0.00001
|
|
NM_000942.5(PPIB):c.509G>A (p.Gly170Asp)
|
rs199606428
|
0.00001
|
|
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile)
|
rs72549323
|
0.00001
|
|
NM_001002294.3(FMO3):c.370C>T (p.Gln124Ter)
|
rs1384237868
|
0.00001
|
|
NM_001003694.2(BRPF1):c.2441G>A (p.Arg814His)
|
rs769038359
|
0.00001
|
|
NM_001003800.2(BICD2):c.2258+6C>T
|
rs566572599
|
0.00001
|
|
NM_001005242.3(PKP2):c.1034+1G>A
|
rs869025496
|
0.00001
|
|
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val)
|
rs1565596114
|
0.00001
|
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
|
NM_001005242.3(PKP2):c.1557-9T>C
|
rs778969163
|
0.00001
|
|
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp)
|
rs898915439
|
0.00001
|
|
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=)
|
rs773662874
|
0.00001
|
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
|
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro)
|
rs878854709
|
0.00001
|
|
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)
|
rs753226330
|
0.00001
|
|
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu)
|
rs267603443
|
0.00001
|
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
|
NM_001005242.3(PKP2):c.909A>G (p.Glu303=)
|
rs376001513
|
0.00001
|
|
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)
|
rs756604557
|
0.00001
|
|
NM_001005273.3(CHD3):c.1510G>A (p.Val504Met)
|
rs752833740
|
0.00001
|
|
NM_001007553.3(CSDE1):c.989G>A (p.Arg330Gln)
|
rs777390495
|
0.00001
|
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
|
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)
|
rs764909409
|
0.00001
|
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.502G>A (p.Gly168Ser)
|
rs771489500
|
0.00001
|
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
|
NM_001017980.4(VMA21):c.57T>C (p.Asn19=)
|
rs1402497520
|
0.00001
|
|
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val)
|
rs193922410
|
0.00001
|
|
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)
|
rs199476322
|
0.00001
|
|
NM_001018113.3(FANCB):c.230T>C (p.Met77Thr)
|
rs753536320
|
0.00001
|
|
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu)
|
rs767194178
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1948-6C>A
|
rs779350241
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)
|
rs755975980
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
|
NM_001025603.2(RFX5):c.37A>G (p.Thr13Ala)
|
rs746726678
|
0.00001
|
|
NM_001032283.3(TMPO):c.565+1275A>G
|
rs763320036
|
0.00001
|
|
NM_001032283.3(TMPO):c.565+1499A>G
|
rs776923796
|
0.00001
|
|
NM_001032283.3(TMPO):c.565+2178G>A
|
rs1343917914
|
0.00001
|
|
NM_001032283.3(TMPO):c.72T>C (p.Asn24=)
|
rs201960762
|
0.00001
|
|
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)
|
rs776690106
|
0.00001
|
|
NM_001032386.2(SUOX):c.142_145dup (p.Asn49delinsArgTer)
|
rs780603746
|
0.00001
|
|
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)
|
rs770792767
|
0.00001
|
|
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys)
|
rs747849702
|
0.00001
|
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
|
NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu)
|
rs113994030
|
0.00001
|
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
|
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=)
|
rs543120030
|
0.00001
|
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
|
NM_001035.3(RYR2):c.10230T>C (p.His3410=)
|
rs370078129
|
0.00001
|
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
|
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)
|
rs758125356
|
0.00001
|
|
NM_001035.3(RYR2):c.11205C>T (p.Gly3735=)
|
rs756763032
|
0.00001
|
|
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn)
|
rs1200279072
|
0.00001
|
|
NM_001035.3(RYR2):c.1170+10T>C
|
rs760377600
|
0.00001
|
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
|
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=)
|
rs777321777
|
0.00001
|
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
|
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)
|
rs886039213
|
0.00001
|
|
NM_001035.3(RYR2):c.14152-3T>C
|
rs376797615
|
0.00001
|
|
NM_001035.3(RYR2):c.14469T>C (p.Ala4823=)
|
rs1164805007
|
0.00001
|
|
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn)
|
rs1558850631
|
0.00001
|
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
|
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
|
rs900519025
|
0.00001
|
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
|
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)
|
rs190884873
|
0.00001
|
|
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)
|
rs193922625
|
0.00001
|
|
NM_001035.3(RYR2):c.4182G>A (p.Lys1394=)
|
rs953147627
|
0.00001
|
|
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=)
|
rs754504287
|
0.00001
|
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
|
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=)
|
rs759662492
|
0.00001
|
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
|
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)
|
rs765106198
|
0.00001
|
|
NM_001035.3(RYR2):c.5575G>A (p.Glu1859Lys)
|
rs755584806
|
0.00001
|
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
|
NM_001035.3(RYR2):c.5916+9A>G
|
rs1002006336
|
0.00001
|
|
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)
|
rs930769080
|
0.00001
|
|
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=)
|
rs373777614
|
0.00001
|
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
|
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)
|
rs1177415020
|
0.00001
|
|
NM_001035.3(RYR2):c.773+18T>C
|
rs758435186
|
0.00001
|
|
NM_001035.3(RYR2):c.7733+12A>C
|
rs1024864893
|
0.00001
|
|
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=)
|
rs745484020
|
0.00001
|
|
NM_001035.3(RYR2):c.819C>T (p.Ser273=)
|
rs746461178
|
0.00001
|
|
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=)
|
rs1057520868
|
0.00001
|
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
|
NM_001035.3(RYR2):c.8714+20A>G
|
rs1176577543
|
0.00001
|
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
|
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=)
|
rs367780360
|
0.00001
|
|
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys)
|
rs553445235
|
0.00001
|
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
|
NM_001037.5(SCN1B):c.374G>A (p.Arg125His)
|
rs759839781
|
0.00001
|
|
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)
|
rs786205834
|
0.00001
|
|
NM_001039213.4(CEACAM16):c.623G>A (p.Ser208Asn)
|
rs573717477
|
0.00001
|
|
NM_001039591.3(USP9X):c.437G>A (p.Arg146Lys)
|
rs374612695
|
0.00001
|
|
NM_001040142.2(SCN2A):c.477-13T>C
|
rs973711914
|
0.00001
|
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
|
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)
|
rs1307836828
|
0.00001
|
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
|
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
|
rs386833703
|
0.00001
|
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
|
NM_001042492.3(NF1):c.1392+7T>C
|
rs773017698
|
0.00001
|
|
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)
|
rs587778548
|
0.00001
|
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
|
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)
|
rs778033578
|
0.00001
|
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
|
NM_001042492.3(NF1):c.2361A>G (p.Ala787=)
|
rs371589922
|
0.00001
|
|
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
|
NM_001042492.3(NF1):c.2490C>T (p.Asp830=)
|
rs786201629
|
0.00001
|
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
|
NM_001042492.3(NF1):c.3111T>C (p.Phe1037=)
|
rs200240170
|
0.00001
|
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
|
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His)
|
rs778920556
|
0.00001
|
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
|
NM_001042492.3(NF1):c.4431-17A>T
|
rs754657048
|
0.00001
|
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
|
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)
|
rs747584987
|
0.00001
|
|
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu)
|
rs753529924
|
0.00001
|
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
|
NM_001042492.3(NF1):c.5610-7C>T
|
rs553657123
|
0.00001
|
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
|
NM_001042492.3(NF1):c.6546C>T (p.Tyr2182=)
|
rs876659768
|
0.00001
|
|
NM_001042492.3(NF1):c.6552C>T (p.Asp2184=)
|
rs376808264
|
0.00001
|
|
NM_001042492.3(NF1):c.6819+6T>C
|
rs1407700643
|
0.00001
|
|
NM_001042492.3(NF1):c.7086A>C (p.Ala2362=)
|
rs1241296625
|
0.00001
|
|
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)
|
rs137966859
|
0.00001
|
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
|
NM_001042492.3(NF1):c.7479A>G (p.Pro2493=)
|
rs144957306
|
0.00001
|
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
|
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln)
|
rs1597866487
|
0.00001
|
|
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg)
|
rs587781502
|
0.00001
|
|
NM_001042492.3(NF1):c.7870-19C>T
|
rs542314717
|
0.00001
|
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
|
NM_001042492.3(NF1):c.888+5G>A
|
rs556444929
|
0.00001
|
|
NM_001042545.2(LTBP4):c.1274G>A (p.Arg425His)
|
rs566716472
|
0.00001
|
|
NM_001042545.2(LTBP4):c.1870C>T (p.Pro624Ser)
|
rs903754296
|
0.00001
|
|
NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser)
|
rs1297285666
|
0.00001
|
|
NM_001044385.3(TMEM237):c.869+5T>C
|
rs530769303
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1134C>T (p.Ser378=)
|
rs759460243
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1161T>C (p.Leu387=)
|
rs550693666
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=)
|
rs752408891
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)
|
rs587780084
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=)
|
rs768239149
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=)
|
rs373973053
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly)
|
rs876659488
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1448C>T (p.Ser483Phe)
|
rs796921537
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1484G>A (p.Arg495His)
|
rs374655042
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val)
|
rs751053826
|
0.00001
|
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
|
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=)
|
rs730881836
|
0.00001
|
|
NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln)
|
rs587781444
|
0.00001
|
|
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile)
|
rs763273196
|
0.00001
|
|
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr)
|
rs201103359
|
0.00001
|
|
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp)
|
rs773674701
|
0.00001
|
|
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln)
|
rs533899702
|
0.00001
|
|
NM_001048174.2(MUTYH):c.483A>C (p.Gly161=)
|
rs1361354427
|
0.00001
|
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
|
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)
|
rs537292657
|
0.00001
|
|
NM_001048174.2(MUTYH):c.573A>C (p.Thr191=)
|
rs778014929
|
0.00001
|
|
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)
|
rs369854269
|
0.00001
|
|
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val)
|
rs369120013
|
0.00001
|
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
|
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)
|
rs199840380
|
0.00001
|
|
NM_001048174.2(MUTYH):c.820G>T (p.Val274Leu)
|
rs760889663
|
0.00001
|
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
|
NM_001048174.2(MUTYH):c.914-8G>A
|
rs757672024
|
0.00001
|
|
NM_001063.4(TF):c.1180G>A (p.Glu394Lys)
|
rs121918680
|
0.00001
|
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
|
NM_001077365.2(POMT1):c.699+68T>C
|
rs759254028
|
0.00001
|
|
NM_001077418.3(TMEM231):c.944T>G (p.Leu315Ter)
|
rs756652972
|
0.00001
|
|
NM_001077620.3(PRCD):c.74+1G>A
|
rs779066277
|
0.00001
|
|
NM_001079.4(ZAP70):c.329C>T (p.Pro110Leu)
|
rs1263938808
|
0.00001
|
|
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met)
|
rs201590151
|
0.00001
|
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
|
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)
|
rs119463991
|
0.00001
|
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
|
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)
|
rs775793638
|
0.00001
|
|
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)
|
rs121908577
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
|
NM_001080414.4(CCDC88C):c.3904G>A (p.Glu1302Lys)
|
rs761146967
|
0.00001
|
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
|
NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser)
|
rs964335184
|
0.00001
|
|
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)
|
rs758513965
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu)
|
rs764428510
|
0.00001
|
|
NM_001082971.2(DDC):c.710T>C (p.Phe237Ser)
|
rs755511614
|
0.00001
|
|
NM_001082971.2(DDC):c.73G>A (p.Glu25Lys)
|
rs756869400
|
0.00001
|
|
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn)
|
rs754079962
|
0.00001
|
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
|
NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn)
|
rs1455960914
|
0.00001
|
|
NM_001083116.3(PRF1):c.559C>T (p.Pro187Ser)
|
rs780042742
|
0.00001
|
|
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)
|
rs776571416
|
0.00001
|
|
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)
|
rs202217604
|
0.00001
|
|
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)
|
rs28933973
|
0.00001
|
|
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser)
|
rs397514592
|
0.00001
|
|
NM_001083962.2(TCF4):c.1989C>T (p.Asp663=)
|
rs752325141
|
0.00001
|
|
NM_001085049.3(MRAS):c.*6C>G
|
rs969101151
|
0.00001
|
|
NM_001085049.3(MRAS):c.16G>A (p.Val6Ile)
|
rs778102030
|
0.00001
|
|
NM_001085049.3(MRAS):c.348-17G>A
|
rs574806189
|
0.00001
|
|
NM_001085049.3(MRAS):c.525T>C (p.Ile175=)
|
rs568889988
|
0.00001
|
|
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)
|
rs121909542
|
0.00001
|
|
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu)
|
rs369926102
|
0.00001
|
|
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)
|
rs370356566
|
0.00001
|
|
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala)
|
rs1238751751
|
0.00001
|
|
NM_001100913.3(PACS2):c.1781-7C>T
|
rs1555412976
|
0.00001
|
|
NM_001100913.3(PACS2):c.2630A>G (p.Lys877Arg)
|
rs782685668
|
0.00001
|
|
NM_001103.4(ACTN2):c.1614T>C (p.Asp538=)
|
rs368615266
|
0.00001
|
|
NM_001103.4(ACTN2):c.1905C>T (p.Asn635=)
|
rs772586220
|
0.00001
|
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
|
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg)
|
rs782192817
|
0.00001
|
|
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=)
|
rs782650242
|
0.00001
|
|
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)
|
rs782772998
|
0.00001
|
|
NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp)
|
rs373073505
|
0.00001
|
|
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp)
|
rs782761341
|
0.00001
|
|
NM_001110792.2(MECP2):c.1017C>T (p.Thr339=)
|
rs1015722593
|
0.00001
|
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2000A>G (p.Asn667Ser)
|
rs782321409
|
0.00001
|
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
|
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln)
|
rs776851666
|
0.00001
|
|
NM_001113378.2(FANCI):c.3256-9T>C
|
rs1464839356
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu)
|
rs1445830484
|
0.00001
|
|
NM_001122769.3(LCA5):c.1418A>C (p.Glu473Ala)
|
rs550772415
|
0.00001
|
|
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)
|
rs1331645027
|
0.00001
|
|
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln)
|
rs768780378
|
0.00001
|
|
NM_001126049.2(KLLN):c.-1018C>T
|
rs1858332063
|
0.00001
|
|
NM_001126049.2(KLLN):c.-1027G>A
|
rs1355012894
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr)
|
rs137970015
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)
|
rs121909385
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)
|
rs751929135
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2633+1G>A
|
rs778455414
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala)
|
rs745753973
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala)
|
rs1195950626
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)
|
rs121908240
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly)
|
rs778220824
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.979-7C>T
|
rs1375150525
|
0.00001
|
|
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val)
|
rs1057518405
|
0.00001
|
|
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
|
rs61752136
|
0.00001
|
|
NM_001127649.3(PEX26):c.667+2T>C
|
rs267608191
|
0.00001
|
|
NM_001128159.3(VPS53):c.1213G>C (p.Asp405His)
|
rs1326877109
|
0.00001
|
|
NM_001128159.3(VPS53):c.1556+5G>A
|
rs587777466
|
0.00001
|
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
|
NM_001128225.3(SLC39A13):c.616G>A (p.Gly206Ser)
|
rs772303012
|
0.00001
|
|
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu)
|
rs587781374
|
0.00001
|
|
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)
|
rs587780747
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu)
|
rs756290749
|
0.00001
|
|
NM_001130987.2(DYSF):c.1150-21C>T
|
rs532850915
|
0.00001
|
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
|
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His)
|
rs775370021
|
0.00001
|
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
|
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)
|
rs759675023
|
0.00001
|
|
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu)
|
rs535323489
|
0.00001
|
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
|
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)
|
rs1553420848
|
0.00001
|
|
NM_001130987.2(DYSF):c.722C>T (p.Ser241Phe)
|
rs754343148
|
0.00001
|
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
|
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)
|
rs1258728780
|
0.00001
|
|
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)
|
rs369835514
|
0.00001
|
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
|
NM_001134363.3(RBM20):c.1935G>A (p.Pro645=)
|
rs184428735
|
0.00001
|
|
NM_001134363.3(RBM20):c.219A>G (p.Pro73=)
|
rs1355159778
|
0.00001
|
|
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)
|
rs1033220280
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3722G>A (p.Arg1241Gln)
|
rs886042648
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val)
|
rs750649530
|
0.00001
|
|
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
|
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp)
|
rs764862348
|
0.00001
|
|
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)
|
rs763468558
|
0.00001
|
|
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro)
|
rs201575829
|
0.00001
|
|
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)
|
rs724159969
|
0.00001
|
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
|
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu)
|
rs548565748
|
0.00001
|
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
|
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys)
|
rs1334016191
|
0.00001
|
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
|
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)
|
rs886061672
|
0.00001
|
|
NM_001142800.2(EYS):c.7775G>A (p.Gly2592Glu)
|
rs1471859071
|
0.00001
|
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
|
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)
|
rs1211856182
|
0.00001
|
|
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)
|
rs569561277
|
0.00001
|
|
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg)
|
rs774342993
|
0.00001
|
|
NM_001144967.3(NEDD4L):c.482A>G (p.Glu161Gly)
|
rs746022345
|
0.00001
|
|
NM_001145809.2(MYH14):c.-3-6C>T
|
rs886054586
|
0.00001
|
|
NM_001145809.2(MYH14):c.4987C>T (p.Arg1663Trp)
|
rs375795690
|
0.00001
|
|
NM_001145809.2(MYH14):c.5042A>G (p.Glu1681Gly)
|
rs1206556550
|
0.00001
|
|
NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln)
|
rs201040702
|
0.00001
|
|
NM_001148.6(ANK2):c.10562C>T (p.Pro3521Leu)
|
rs766421377
|
0.00001
|
|
NM_001148.6(ANK2):c.10645C>T (p.Arg3549Cys)
|
rs1056477885
|
0.00001
|
|
NM_001148.6(ANK2):c.1783-4A>G
|
rs755543636
|
0.00001
|
|
NM_001148.6(ANK2):c.2289G>A (p.Thr763=)
|
rs753131867
|
0.00001
|
|
NM_001148.6(ANK2):c.2364C>T (p.Asn788=)
|
rs769405364
|
0.00001
|
|
NM_001148.6(ANK2):c.3090G>T (p.Leu1030=)
|
rs1487758535
|
0.00001
|
|
NM_001148.6(ANK2):c.4045A>G (p.Met1349Val)
|
rs765236990
|
0.00001
|
|
NM_001148.6(ANK2):c.4372-8G>A
|
rs771323413
|
0.00001
|
|
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys)
|
rs761254386
|
0.00001
|
|
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)
|
rs766217545
|
0.00001
|
|
NM_001148.6(ANK2):c.6601A>G (p.Ser2201Gly)
|
rs201717651
|
0.00001
|
|
NM_001148.6(ANK2):c.6627G>T (p.Gly2209=)
|
rs755239682
|
0.00001
|
|
NM_001148.6(ANK2):c.6878G>T (p.Gly2293Val)
|
rs776469600
|
0.00001
|
|
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln)
|
rs766001488
|
0.00001
|
|
NM_001148.6(ANK2):c.8409A>G (p.Glu2803=)
|
rs74743698
|
0.00001
|
|
NM_001148.6(ANK2):c.9145C>T (p.Arg3049Trp)
|
rs1201870166
|
0.00001
|
|
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe)
|
rs750774547
|
0.00001
|
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
|
NM_001159699.2(FHL1):c.204+6G>A
|
rs763404867
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3147+10C>T
|
rs777007748
|
0.00001
|
|
NM_001163435.3(TBCK):c.659-19T>C
|
rs1212469599
|
0.00001
|
|
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)
|
rs1194329020
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)
|
rs1272300904
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)
|
rs782172072
|
0.00001
|
|
NM_001164508.2(NEB):c.10418T>A (p.Met3473Lys)
|
rs1199616055
|
0.00001
|
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
|
NM_001164508.2(NEB):c.17179A>G (p.Arg5727Gly)
|
rs1165026867
|
0.00001
|
|
NM_001164508.2(NEB):c.17634+5G>A
|
rs749700121
|
0.00001
|
|
NM_001164508.2(NEB):c.1849del (p.Asp617fs)
|
rs755531536
|
0.00001
|
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
|
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg)
|
rs201071685
|
0.00001
|
|
NM_001164508.2(NEB):c.20113G>A (p.Val6705Ile)
|
rs774095156
|
0.00001
|
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
|
NM_001164508.2(NEB):c.24556C>T (p.Arg8186Cys)
|
rs765313781
|
0.00001
|
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
|
NM_001164508.2(NEB):c.3775-22T>C
|
rs748941455
|
0.00001
|
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
|
NM_001164508.2(NEB):c.4299+9G>A
|
rs746505680
|
0.00001
|
|
NM_001164508.2(NEB):c.6478A>T (p.Asn2160Tyr)
|
rs2099084057
|
0.00001
|
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
|
NM_001164508.2(NEB):c.8791A>G (p.Lys2931Glu)
|
rs1049915348
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1171-19C>A
|
rs929127955
|
0.00001
|
|
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr)
|
rs758871507
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2044-20A>G
|
rs777660738
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3426A>G (p.Lys1142=)
|
rs753202524
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
|
NM_001170629.2(CHD8):c.7045G>C (p.Val2349Leu)
|
rs754271832
|
0.00001
|
|
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)
|
rs587779779
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.1861C>T (p.Arg621Cys)
|
rs754299888
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.575del (p.Val192fs)
|
rs2067871973
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)
|
rs762942751
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.758C>T (p.Ala253Val)
|
rs1298347142
|
0.00001
|
|
NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly)
|
rs202125140
|
0.00001
|
|
NM_001174150.2(ARL13B):c.963G>C (p.Lys321Asn)
|
rs2076893671
|
0.00001
|
|
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)
|
rs587777546
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu)
|
rs780233639
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp)
|
rs1284670769
|
0.00001
|
|
NM_001197104.2(KMT2A):c.11322-6C>A
|
rs1950921220
|
0.00001
|
|
NM_001197104.2(KMT2A):c.82G>T (p.Gly28Trp)
|
rs782113710
|
0.00001
|
|
NM_001199753.2(CPT1C):c.740C>T (p.Pro247Leu)
|
rs765359581
|
0.00001
|
|
NM_001201543.2(FAM161A):c.2020G>T (p.Glu674Ter)
|
rs998875938
|
0.00001
|
|
NM_001206427.2(ATP5MK):c.87+2dup
|
rs1339841048
|
0.00001
|
|
NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser)
|
rs778515113
|
0.00001
|
|
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp)
|
rs121908087
|
0.00001
|
|
NM_001211.6(BUB1B):c.1919C>T (p.Pro640Leu)
|
rs370388424
|
0.00001
|
|
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
|
rs28989185
|
0.00001
|
|
NM_001232.4(CASQ2):c.678C>T (p.Ala226=)
|
rs1647618680
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val)
|
rs772280549
|
0.00001
|
|
NM_001242957.3(MAK):c.101+1G>A
|
rs1300819259
|
0.00001
|
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1061G>A (p.Arg354Gln)
|
rs544775512
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1360G>A (p.Ala454Thr)
|
rs1575598898
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys)
|
rs376012799
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)
|
rs587778791
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3829C>T (p.Arg1277Trp)
|
rs374076405
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met)
|
rs1559472826
|
0.00001
|
|
NM_001244189.2(KIAA0586):c.1A>G (p.Met1Val)
|
rs1298293774
|
0.00001
|
|
NM_001244710.2(GFPT1):c.2055+1G>T
|
rs868258818
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His)
|
rs137853000
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met)
|
rs768140716
|
0.00001
|
|
NM_001257180.2(SLC20A2):c.1794+1G>C
|
rs1052304545
|
0.00001
|
|
NM_001261826.3(AP3D1):c.2329G>A (p.Val777Ile)
|
rs775564429
|
0.00001
|
|
NM_001261826.3(AP3D1):c.2711C>T (p.Pro904Leu)
|
rs535799229
|
0.00001
|
|
NM_001267550.2(TTN):c.100585T>C (p.Trp33529Arg)
|
rs998397847
|
0.00001
|
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
|
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala)
|
rs752582515
|
0.00001
|
|
NM_001267550.2(TTN):c.102558C>T (p.Thr34186=)
|
rs1457807365
|
0.00001
|
|
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser)
|
rs375332499
|
0.00001
|
|
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys)
|
rs879240376
|
0.00001
|
|
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val)
|
rs1001393566
|
0.00001
|
|
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr)
|
rs554953169
|
0.00001
|
|
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=)
|
rs377340289
|
0.00001
|
|
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys)
|
rs778126842
|
0.00001
|
|
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser)
|
rs1172448062
|
0.00001
|
|
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)
|
rs761269554
|
0.00001
|
|
NM_001267550.2(TTN):c.15495A>C (p.Lys5165Asn)
|
rs794729608
|
0.00001
|
|
NM_001267550.2(TTN):c.16790C>T (p.Ser5597Phe)
|
rs754116386
|
0.00001
|
|
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)
|
rs770310501
|
0.00001
|
|
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)
|
rs748617936
|
0.00001
|
|
NM_001267550.2(TTN):c.17326A>G (p.Ile5776Val)
|
rs767553328
|
0.00001
|
|
NM_001267550.2(TTN):c.17461+14G>A
|
rs751425418
|
0.00001
|
|
NM_001267550.2(TTN):c.17717G>T (p.Cys5906Phe)
|
rs1239818599
|
0.00001
|
|
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)
|
rs537966944
|
0.00001
|
|
NM_001267550.2(TTN):c.1920G>A (p.Val640=)
|
rs1361872004
|
0.00001
|
|
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe)
|
rs189557659
|
0.00001
|
|
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala)
|
rs752107739
|
0.00001
|
|
NM_001267550.2(TTN):c.2082C>T (p.Asp694=)
|
rs534874686
|
0.00001
|
|
NM_001267550.2(TTN):c.20836+9A>G
|
rs982238257
|
0.00001
|
|
NM_001267550.2(TTN):c.21107A>T (p.Asp7036Val)
|
rs767695386
|
0.00001
|
|
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg)
|
rs786205401
|
0.00001
|
|
NM_001267550.2(TTN):c.21524G>C (p.Arg7175Thr)
|
rs1578045796
|
0.00001
|
|
NM_001267550.2(TTN):c.21888T>C (p.Asp7296=)
|
rs767681708
|
0.00001
|
|
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His)
|
rs754432983
|
0.00001
|
|
NM_001267550.2(TTN):c.2260G>A (p.Ala754Thr)
|
rs754073908
|
0.00001
|
|
NM_001267550.2(TTN):c.25392A>C (p.Ser8464=)
|
rs766560212
|
0.00001
|
|
NM_001267550.2(TTN):c.25832A>G (p.Asn8611Ser)
|
rs779262321
|
0.00001
|
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
|
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)
|
rs369108107
|
0.00001
|
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
|
NM_001267550.2(TTN):c.29078C>T (p.Ala9693Val)
|
rs767793508
|
0.00001
|
|
NM_001267550.2(TTN):c.29857G>T (p.Gly9953Cys)
|
rs770212603
|
0.00001
|
|
NM_001267550.2(TTN):c.30219C>T (p.Ile10073=)
|
rs369709449
|
0.00001
|
|
NM_001267550.2(TTN):c.30224-18C>T
|
rs748735506
|
0.00001
|
|
NM_001267550.2(TTN):c.30675T>C (p.Arg10225=)
|
rs898902393
|
0.00001
|
|
NM_001267550.2(TTN):c.31426+1G>C
|
rs6749719
|
0.00001
|
|
NM_001267550.2(TTN):c.3164+13G>C
|
rs750352603
|
0.00001
|
|
NM_001267550.2(TTN):c.32011+15T>G
|
rs886055285
|
0.00001
|
|
NM_001267550.2(TTN):c.32198-9C>A
|
rs555383226
|
0.00001
|
|
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val)
|
rs773225325
|
0.00001
|
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
|
NM_001267550.2(TTN):c.34613-18A>G
|
rs372828399
|
0.00001
|
|
NM_001267550.2(TTN):c.34650A>C (p.Glu11550Asp)
|
rs747549288
|
0.00001
|
|
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu)
|
rs887706962
|
0.00001
|
|
NM_001267550.2(TTN):c.3785T>C (p.Ile1262Thr)
|
rs752505720
|
0.00001
|
|
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His)
|
rs770419196
|
0.00001
|
|
NM_001267550.2(TTN):c.39468C>T (p.Pro13156=)
|
rs1367382367
|
0.00001
|
|
NM_001267550.2(TTN):c.39715G>T (p.Glu13239Ter)
|
rs879110681
|
0.00001
|
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
|
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly)
|
rs756446770
|
0.00001
|
|
NM_001267550.2(TTN):c.40669G>A (p.Val13557Ile)
|
rs1170853214
|
0.00001
|
|
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)
|
rs370978752
|
0.00001
|
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
|
NM_001267550.2(TTN):c.4101C>A (p.Ser1367Arg)
|
rs1307238681
|
0.00001
|
|
NM_001267550.2(TTN):c.42252A>G (p.Ile14084Met)
|
rs1163597313
|
0.00001
|
|
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln)
|
rs764083952
|
0.00001
|
|
NM_001267550.2(TTN):c.42561A>C (p.Val14187=)
|
rs1057521315
|
0.00001
|
|
NM_001267550.2(TTN):c.43478A>G (p.Glu14493Gly)
|
rs1316766072
|
0.00001
|
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
|
NM_001267550.2(TTN):c.44816C>G (p.Pro14939Arg)
|
rs1186119697
|
0.00001
|
|
NM_001267550.2(TTN):c.45369C>G (p.Ile15123Met)
|
rs1160173197
|
0.00001
|
|
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys)
|
rs397517582
|
0.00001
|
|
NM_001267550.2(TTN):c.48446T>C (p.Met16149Thr)
|
rs760582847
|
0.00001
|
|
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu)
|
rs1429263816
|
0.00001
|
|
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)
|
rs185789611
|
0.00001
|
|
NM_001267550.2(TTN):c.50511A>T (p.Pro16837=)
|
rs574553890
|
0.00001
|
|
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)
|
rs370696020
|
0.00001
|
|
NM_001267550.2(TTN):c.52397A>G (p.Asp17466Gly)
|
rs377156953
|
0.00001
|
|
NM_001267550.2(TTN):c.54380G>C (p.Gly18127Ala)
|
rs371971395
|
0.00001
|
|
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys)
|
rs554701601
|
0.00001
|
|
NM_001267550.2(TTN):c.54646G>A (p.Val18216Ile)
|
rs2054164910
|
0.00001
|
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
|
NM_001267550.2(TTN):c.55340C>T (p.Pro18447Leu)
|
rs397517622
|
0.00001
|
|
NM_001267550.2(TTN):c.57018T>A (p.Asp19006Glu)
|
rs780515211
|
0.00001
|
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
|
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn)
|
rs536645864
|
0.00001
|
|
NM_001267550.2(TTN):c.58490T>C (p.Met19497Thr)
|
rs375365886
|
0.00001
|
|
NM_001267550.2(TTN):c.60059G>A (p.Gly20020Asp)
|
rs1430427636
|
0.00001
|
|
NM_001267550.2(TTN):c.60221-15A>G
|
rs979267983
|
0.00001
|
|
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala)
|
rs886039085
|
0.00001
|
|
NM_001267550.2(TTN):c.61908T>C (p.Asn20636=)
|
rs2049830448
|
0.00001
|
|
NM_001267550.2(TTN):c.62124G>T (p.Arg20708Ser)
|
rs377175428
|
0.00001
|
|
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe)
|
rs547033801
|
0.00001
|
|
NM_001267550.2(TTN):c.63417G>A (p.Gln21139=)
|
rs1167463666
|
0.00001
|
|
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser)
|
rs753121509
|
0.00001
|
|
NM_001267550.2(TTN):c.64283T>C (p.Val21428Ala)
|
rs1576014979
|
0.00001
|
|
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met)
|
rs780879621
|
0.00001
|
|
NM_001267550.2(TTN):c.64755G>A (p.Leu21585=)
|
rs755813803
|
0.00001
|
|
NM_001267550.2(TTN):c.64827G>A (p.Thr21609=)
|
rs377420188
|
0.00001
|
|
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg)
|
rs886038921
|
0.00001
|
|
NM_001267550.2(TTN):c.66048C>T (p.Ser22016=)
|
rs997612485
|
0.00001
|
|
NM_001267550.2(TTN):c.66332T>A (p.Ile22111Lys)
|
rs374614550
|
0.00001
|
|
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys)
|
rs879016147
|
0.00001
|
|
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu)
|
rs764048936
|
0.00001
|
|
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=)
|
rs397517671
|
0.00001
|
|
NM_001267550.2(TTN):c.6791-11A>G
|
rs368202177
|
0.00001
|
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
|
NM_001267550.2(TTN):c.68825-7T>A
|
rs767881914
|
0.00001
|
|
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)
|
rs758398301
|
0.00001
|
|
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln)
|
rs78916558
|
0.00001
|
|
NM_001267550.2(TTN):c.71022T>C (p.Leu23674=)
|
rs201333699
|
0.00001
|
|
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn)
|
rs771783837
|
0.00001
|
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
|
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr)
|
rs1386956312
|
0.00001
|
|
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)
|
rs140018785
|
0.00001
|
|
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=)
|
rs564938876
|
0.00001
|
|
NM_001267550.2(TTN):c.73212C>T (p.Ser24404=)
|
rs754332135
|
0.00001
|
|
NM_001267550.2(TTN):c.74047G>A (p.Glu24683Lys)
|
rs755064877
|
0.00001
|
|
NM_001267550.2(TTN):c.74965G>A (p.Val24989Met)
|
rs567800207
|
0.00001
|
|
NM_001267550.2(TTN):c.750A>G (p.Pro250=)
|
rs1227298156
|
0.00001
|
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
|
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys)
|
rs757511354
|
0.00001
|
|
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met)
|
rs755225678
|
0.00001
|
|
NM_001267550.2(TTN):c.77679T>A (p.Pro25893=)
|
rs754965979
|
0.00001
|
|
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val)
|
rs760786665
|
0.00001
|
|
NM_001267550.2(TTN):c.79068A>G (p.Glu26356=)
|
rs375454098
|
0.00001
|
|
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)
|
rs1380054566
|
0.00001
|
|
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala)
|
rs775053902
|
0.00001
|
|
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser)
|
rs566764105
|
0.00001
|
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
|
NM_001267550.2(TTN):c.83919T>C (p.Asn27973=)
|
rs777656348
|
0.00001
|
|
NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala)
|
rs147895770
|
0.00001
|
|
NM_001267550.2(TTN):c.85756A>G (p.Ile28586Val)
|
rs1187128207
|
0.00001
|
|
NM_001267550.2(TTN):c.85861T>C (p.Tyr28621His)
|
rs751308383
|
0.00001
|
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
|
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=)
|
rs886055233
|
0.00001
|
|
NM_001267550.2(TTN):c.86638T>G (p.Tyr28880Asp)
|
rs1244106142
|
0.00001
|
|
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu)
|
rs876658090
|
0.00001
|
|
NM_001267550.2(TTN):c.88059C>A (p.Ser29353Arg)
|
rs1311421658
|
0.00001
|
|
NM_001267550.2(TTN):c.88296C>T (p.Ile29432=)
|
rs370287542
|
0.00001
|
|
NM_001267550.2(TTN):c.88887C>T (p.Asn29629=)
|
rs759136146
|
0.00001
|
|
NM_001267550.2(TTN):c.88947G>A (p.Ser29649=)
|
rs912193120
|
0.00001
|
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
|
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp)
|
rs112777680
|
0.00001
|
|
NM_001267550.2(TTN):c.89492A>C (p.Lys29831Thr)
|
rs1404072291
|
0.00001
|
|
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)
|
rs369855092
|
0.00001
|
|
NM_001267550.2(TTN):c.91533T>G (p.Ser30511=)
|
rs772824909
|
0.00001
|
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
|
NM_001267550.2(TTN):c.92383G>A (p.Val30795Ile)
|
rs369025866
|
0.00001
|
|
NM_001267550.2(TTN):c.92694T>C (p.Ala30898=)
|
rs760506340
|
0.00001
|
|
NM_001267550.2(TTN):c.93270T>C (p.Val31090=)
|
rs533233569
|
0.00001
|
|
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser)
|
rs751185223
|
0.00001
|
|
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=)
|
rs764363274
|
0.00001
|
|
NM_001267550.2(TTN):c.95021T>C (p.Val31674Ala)
|
rs754222897
|
0.00001
|
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
|
NM_001267550.2(TTN):c.95431C>T (p.Pro31811Ser)
|
rs373291051
|
0.00001
|
|
NM_001267550.2(TTN):c.95486C>G (p.Thr31829Arg)
|
rs762048345
|
0.00001
|
|
NM_001267550.2(TTN):c.95494G>A (p.Glu31832Lys)
|
rs753982218
|
0.00001
|
|
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser)
|
rs199618831
|
0.00001
|
|
NM_001267550.2(TTN):c.96985C>T (p.Pro32329Ser)
|
rs759641873
|
0.00001
|
|
NM_001267550.2(TTN):c.97152T>C (p.Val32384=)
|
rs368018568
|
0.00001
|
|
NM_001267550.2(TTN):c.97201G>C (p.Gly32401Arg)
|
rs1371025709
|
0.00001
|
|
NM_001267550.2(TTN):c.97347C>T (p.Pro32449=)
|
rs753266734
|
0.00001
|
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
|
NM_001267550.2(TTN):c.9802C>T (p.Pro3268Ser)
|
rs912372716
|
0.00001
|
|
NM_001267550.2(TTN):c.9989-16T>C
|
rs564482474
|
0.00001
|
|
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)
|
rs747130957
|
0.00001
|
|
NM_001271938.2(MEGF8):c.584C>T (p.Pro195Leu)
|
rs1305476517
|
0.00001
|
|
NM_001271938.2(MEGF8):c.901G>A (p.Gly301Ser)
|
rs369528104
|
0.00001
|
|
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=)
|
rs1180516886
|
0.00001
|
|
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly)
|
rs730881095
|
0.00001
|
|
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)
|
rs397516469
|
0.00001
|
|
NM_001276345.2(TNNT2):c.610-6C>T
|
rs45516702
|
0.00001
|
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
|
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)
|
rs2037381055
|
0.00001
|
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
|
NM_001278512.2(AP3B2):c.1256G>A (p.Arg419His)
|
rs750705900
|
0.00001
|
|
NM_001282426.2(PIK3CG):c.1480C>T (p.Gln494Ter)
|
rs1584318294
|
0.00001
|
|
NM_001283.5(AP1S1):c.183-2A>G
|
rs751430853
|
0.00001
|
|
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
|
rs370343781
|
0.00001
|
|
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg)
|
rs1018679403
|
0.00001
|
|
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp)
|
rs560281693
|
0.00001
|
|
NM_001286.5(CLCN6):c.1561T>G (p.Phe521Val)
|
rs776387131
|
0.00001
|
|
NM_001289.6(CLIC2):c.454A>G (p.Thr152Ala)
|
rs1557316156
|
0.00001
|
|
NM_001291303.3(FAT4):c.10395C>T (p.Thr3465=)
|
rs768300702
|
0.00001
|
|
NM_001291303.3(FAT4):c.11482G>A (p.Val3828Ile)
|
rs773534151
|
0.00001
|
|
NM_001291415.2(KDM6A):c.533A>G (p.Lys178Arg)
|
rs758358984
|
0.00001
|
|
NM_001291867.2(NHS):c.691C>T (p.Arg231Trp)
|
rs749420963
|
0.00001
|
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
|
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His)
|
rs761839551
|
0.00001
|
|
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)
|
rs770961534
|
0.00001
|
|
NM_001297.5(CNGB1):c.290+2T>C
|
rs1429797650
|
0.00001
|
|
NM_001303052.2(MYT1L):c.1673G>A (p.Arg558His)
|
rs746083137
|
0.00001
|
|
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
|
rs372297066
|
0.00001
|
|
NM_001304717.4(PTEN):c.-332G>A
|
rs876661046
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)
|
rs587783157
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)
|
rs749475936
|
0.00001
|
|
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter)
|
rs369917781
|
0.00001
|
|
NM_001330078.2(NRXN1):c.1361G>A (p.Arg454Gln)
|
rs199592328
|
0.00001
|
|
NM_001330260.2(SCN8A):c.80G>A (p.Arg27Lys)
|
rs1303731165
|
0.00001
|
|
NM_001330574.2(ZNF711):c.1387A>T (p.Thr463Ser)
|
rs1414779618
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.301-8C>T
|
rs991072716
|
0.00001
|
|
NM_001348323.3(TRIP12):c.2362A>G (p.Lys788Glu)
|
rs1373424845
|
0.00001
|
|
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp)
|
rs1281539463
|
0.00001
|
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
|
NM_001353345.2(SETD1B):c.544+2T>C
|
rs1419959359
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.475A>G (p.Ile159Val)
|
rs1556389367
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys)
|
rs782139620
|
0.00001
|
|
NM_001354689.3(RAF1):c.1200C>T (p.Val400=)
|
rs397516814
|
0.00001
|
|
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)
|
rs1553609210
|
0.00001
|
|
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)
|
rs367757240
|
0.00001
|
|
NM_001354712.2(THRB):c.1313G>A (p.Arg438His)
|
rs121918698
|
0.00001
|
|
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala)
|
rs28933408
|
0.00001
|
|
NM_001356.5(DDX3X):c.152-18del
|
rs775104021
|
0.00001
|
|
NM_001356.5(DDX3X):c.443+15T>C
|
rs1219685290
|
0.00001
|
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
|
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)
|
rs1555145605
|
0.00001
|
|
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)
|
rs1046560765
|
0.00001
|
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
|
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)
|
rs1478872904
|
0.00001
|
|
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser)
|
rs104886035
|
0.00001
|
|
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg)
|
rs373352413
|
0.00001
|
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00001
|
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
|
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
|
rs776713087
|
0.00001
|
|
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)
|
rs769218623
|
0.00001
|
|
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)
|
rs749076525
|
0.00001
|
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
|
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met)
|
rs766583874
|
0.00001
|
|
NM_001363711.2(DUOX2):c.2335-1G>C
|
rs758001307
|
0.00001
|
|
NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln)
|
rs772992566
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.1118+4C>T
|
rs773294017
|
0.00001
|
|
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter)
|
rs780673293
|
0.00001
|
|
NM_001365536.1(SCN9A):c.5858C>T (p.Thr1953Ile)
|
rs1222885641
|
0.00001
|
|
NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly)
|
rs755850299
|
0.00001
|
|
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly)
|
rs779626536
|
0.00001
|
|
NM_001365999.1(SZT2):c.2533C>G (p.Leu845Val)
|
rs181729793
|
0.00001
|
|
NM_001365999.1(SZT2):c.8151+11C>T
|
rs78750047
|
0.00001
|
|
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter)
|
rs760186083
|
0.00001
|
|
NM_001367624.2(ZNF469):c.4271C>A (p.Ser1424Tyr)
|
rs1022664528
|
0.00001
|
|
NM_001367624.2(ZNF469):c.5384C>A (p.Ala1795Asp)
|
rs1013562167
|
0.00001
|
|
NM_001367624.2(ZNF469):c.6073G>C (p.Ala2025Pro)
|
rs1318556892
|
0.00001
|
|
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
|
rs273585626
|
0.00001
|
|
NM_001367721.1(CASK):c.524T>C (p.Val175Ala)
|
rs781247892
|
0.00001
|
|
NM_001368397.1(FRMPD4):c.1954T>A (p.Ser652Thr)
|
rs1277751974
|
0.00001
|
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
|
NM_001369268.1(ACAN):c.512C>T (p.Ala171Val)
|
rs371065660
|
0.00001
|
|
NM_001369369.1(FOXN1):c.1106T>C (p.Ile369Thr)
|
rs867638414
|
0.00001
|
|
NM_001370259.2(MEN1):c.1215G>A (p.Gln405=)
|
rs1289898067
|
0.00001
|
|
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr)
|
rs760683615
|
0.00001
|
|
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=)
|
rs143423552
|
0.00001
|
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
|
NM_001370259.2(MEN1):c.999T>C (p.Asn333=)
|
rs763133775
|
0.00001
|
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
|
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
|
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)
|
rs749704755
|
0.00001
|
|
NM_001371904.1(APOA5):c.764A>G (p.Glu255Gly)
|
rs543375884
|
0.00001
|
|
NM_001371904.1(APOA5):c.940C>T (p.Leu314=)
|
rs778540867
|
0.00001
|
|
NM_001371986.1(UNC80):c.2281G>A (p.Gly761Arg)
|
rs930093689
|
0.00001
|
|
NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter)
|
rs750226213
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)
|
rs515726137
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer)
|
rs752757689
|
0.00001
|
|
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys)
|
rs372072356
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1987-10T>G
|
rs1276255111
|
0.00001
|
|
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu)
|
rs80338807
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.10241A>G (p.Asn3414Ser)
|
rs1555411393
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12684+16G>C
|
rs763549678
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)
|
rs137853030
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)
|
rs745569868
|
0.00001
|
|
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)
|
rs774162709
|
0.00001
|
|
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg)
|
rs1370214658
|
0.00001
|
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
|
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)
|
rs886039821
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10078+2dup
|
rs755740074
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg)
|
rs1674949532
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
|
rs1438099503
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp)
|
rs779618627
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)
|
rs760968067
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=)
|
rs760374410
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys)
|
rs769734500
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)
|
rs747504060
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=)
|
rs368270850
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg)
|
rs556855697
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)
|
rs376232524
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile)
|
rs756805885
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)
|
rs564400636
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn)
|
rs771703863
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
|
rs759914299
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5575A>G (p.Ile1859Val)
|
rs1558650343
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7067C>T (p.Ser2356Leu)
|
rs757852651
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=)
|
rs1672938733
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=)
|
rs774574310
|
0.00001
|
|
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu)
|
rs534913971
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu)
|
rs1475730829
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu)
|
rs1421714540
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=)
|
rs566943393
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)
|
rs863225170
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His)
|
rs754586025
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)
|
rs780673487
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
|
NM_001378778.1(MPDZ):c.4145C>T (p.Pro1382Leu)
|
rs145892665
|
0.00001
|
|
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=)
|
rs144184587
|
0.00001
|
|
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln)
|
rs371238926
|
0.00001
|
|
NM_001379286.1(ZNF423):c.2621C>T (p.Pro874Leu)
|
rs959264947
|
0.00001
|
|
NM_001379451.1(BCORL1):c.3768G>C (p.Glu1256Asp)
|
rs1447366476
|
0.00001
|
|
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp)
|
rs536203389
|
0.00001
|
|
NM_001379610.1(SPINK1):c.194+6T>C
|
rs761201715
|
0.00001
|
|
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys)
|
rs515726208
|
0.00001
|
|
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu)
|
rs369163833
|
0.00001
|
|
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)
|
rs770387107
|
0.00001
|
|
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly)
|
rs375368064
|
0.00001
|
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3374-7C>T
|
rs377480411
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.3808T>C (p.Cys1270Arg)
|
rs140776419
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
|
rs1442825433
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)
|
rs869312898
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.9310+6A>T
|
rs1347208910
|
0.00001
|
|
NM_001385012.1(NBEA):c.5366+4G>A
|
rs745512250
|
0.00001
|
|
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)
|
rs1725827570
|
0.00001
|
|
NM_001386140.1(MTTP):c.1691T>C (p.Ile564Thr)
|
rs745447480
|
0.00001
|
|
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)
|
rs199422219
|
0.00001
|
|
NM_001386140.1(MTTP):c.1867+5G>A
|
rs1429774833
|
0.00001
|
|
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)
|
rs1725952378
|
0.00001
|
|
NM_001386140.1(MTTP):c.74G>A (p.Gly25Asp)
|
rs762413666
|
0.00001
|
|
NM_001386298.1(CIC):c.6340C>T (p.Arg2114Trp)
|
rs540906276
|
0.00001
|
|
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)
|
rs1555787646
|
0.00001
|
|
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)
|
rs137852965
|
0.00001
|
|
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr)
|
rs767501382
|
0.00001
|
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
|
NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu)
|
rs1599846930
|
0.00001
|
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
|
NM_001399.5(EDA):c.866G>A (p.Arg289His)
|
rs876657641
|
0.00001
|
|
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys)
|
rs1585165163
|
0.00001
|
|
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)
|
rs769023072
|
0.00001
|
|
NM_001493.3(GDI1):c.720-16G>A
|
rs1047041485
|
0.00001
|
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
|
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln)
|
rs1960156160
|
0.00001
|
|
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu)
|
rs755027471
|
0.00001
|
|
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr)
|
rs1319699374
|
0.00001
|
|
NM_001609.4(ACADSB):c.1228G>A (p.Gly410Ser)
|
rs387906409
|
0.00001
|
|
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)
|
rs772919504
|
0.00001
|
|
NM_001673.5(ASNS):c.1165G>T (p.Glu389Ter)
|
rs948326794
|
0.00001
|
|
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)
|
rs398122974
|
0.00001
|
|
NM_001673.5(ASNS):c.437T>C (p.Phe146Ser)
|
rs1476175517
|
0.00001
|
|
NM_001673.5(ASNS):c.758T>G (p.Ile253Ser)
|
rs761044095
|
0.00001
|
|
NM_001677.4(ATP1B1):c.382G>A (p.Asp128Asn)
|
rs769851426
|
0.00001
|
|
NM_001768.7(CD8A):c.52G>T (p.Ala18Ser)
|
rs1401592907
|
0.00001
|
|
NM_001830.4(CLCN4):c.2084G>A (p.Arg695His)
|
rs760081067
|
0.00001
|
|
NM_001830.4(CLCN4):c.448A>C (p.Ile150Leu)
|
rs1281964124
|
0.00001
|
|
NM_001845.6(COL4A1):c.1990+7T>C
|
rs773725275
|
0.00001
|
|
NM_001845.6(COL4A1):c.324+16G>A
|
rs770236988
|
0.00001
|
|
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg)
|
rs1297620940
|
0.00001
|
|
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu)
|
rs1171160953
|
0.00001
|
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
|
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met)
|
rs746393019
|
0.00001
|
|
NM_001852.4(COL9A2):c.1972G>A (p.Val658Met)
|
rs773159349
|
0.00001
|
|
NM_001853.4(COL9A3):c.1054-12C>T
|
rs1462378174
|
0.00001
|
|
NM_001853.4(COL9A3):c.1750G>A (p.Gly584Ser)
|
rs780489761
|
0.00001
|
|
NM_001854.4(COL11A1):c.4609-8C>A
|
rs777390779
|
0.00001
|
|
NM_001875.5(CPS1):c.2339G>A (p.Arg780His)
|
rs758724746
|
0.00001
|
|
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter)
|
rs121912596
|
0.00001
|
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
|
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)
|
rs1414143303
|
0.00001
|
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
|
NM_001918.5(DBT):c.1217G>T (p.Gly406Val)
|
rs767154711
|
0.00001
|
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
|
NM_001927.4(DES):c.-9G>A
|
rs1359188472
|
0.00001
|
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
|
NM_001931.5(DLAT):c.1345T>C (p.Ser449Pro)
|
rs1555181432
|
0.00001
|
|
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala)
|
rs748619993
|
0.00001
|
|
NM_001943.5(DSG2):c.1791C>T (p.Ser597=)
|
rs768167385
|
0.00001
|
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
|
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)
|
rs374875442
|
0.00001
|
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
|
NM_001963.6(EGF):c.2687T>C (p.Val896Ala)
|
rs778040733
|
0.00001
|
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
|
NM_001985.3(ETFB):c.645dup (p.Val216fs)
|
rs1428088327
|
0.00001
|
|
NM_001999.4(FBN2):c.1011C>T (p.Thr337=)
|
rs781086796
|
0.00001
|
|
NM_001999.4(FBN2):c.294C>T (p.Cys98=)
|
rs765214316
|
0.00001
|
|
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=)
|
rs1488160637
|
0.00001
|
|
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
|
rs573915338
|
0.00001
|
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
|
NM_002025.4(AFF2):c.1702G>A (p.Val568Ile)
|
rs1369501597
|
0.00001
|
|
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)
|
rs1189675611
|
0.00001
|
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
|
NM_002055.5(GFAP):c.495C>T (p.Ala165=)
|
rs1306438057
|
0.00001
|
|
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr)
|
rs63750163
|
0.00001
|
|
NM_002087.4(GRN):c.620T>C (p.Met207Thr)
|
rs776198499
|
0.00001
|
|
NM_002109.6(HARS1):c.1311+4T>C
|
rs958234389
|
0.00001
|
|
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)
|
rs757279674
|
0.00001
|
|
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln)
|
rs146922029
|
0.00001
|
|
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys)
|
rs137852865
|
0.00001
|
|
NM_002160.4(TNC):c.5743A>G (p.Thr1915Ala)
|
rs1180536647
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
|
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)
|
rs587778405
|
0.00001
|
|
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)
|
rs398123680
|
0.00001
|
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
|
NM_002230.4(JUP):c.100G>A (p.Val34Met)
|
rs794729029
|
0.00001
|
|
NM_002230.4(JUP):c.1017C>T (p.Ser339=)
|
rs782357007
|
0.00001
|
|
NM_002230.4(JUP):c.1128G>A (p.Leu376=)
|
rs781926392
|
0.00001
|
|
NM_002230.4(JUP):c.1327C>T (p.Leu443=)
|
rs140537908
|
0.00001
|
|
NM_002230.4(JUP):c.1347C>T (p.Asp449=)
|
rs763261901
|
0.00001
|
|
NM_002230.4(JUP):c.1506C>T (p.Ile502=)
|
rs372963143
|
0.00001
|
|
NM_002230.4(JUP):c.1551G>A (p.Pro517=)
|
rs988891105
|
0.00001
|
|
NM_002230.4(JUP):c.1599G>A (p.Lys533=)
|
rs150699961
|
0.00001
|
|
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu)
|
rs782683108
|
0.00001
|
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
|
NM_002230.4(JUP):c.1774-16C>T
|
rs371727352
|
0.00001
|
|
NM_002230.4(JUP):c.1774-8C>T
|
rs781837434
|
0.00001
|
|
NM_002230.4(JUP):c.1815C>T (p.Ala605=)
|
rs543862977
|
0.00001
|
|
NM_002230.4(JUP):c.192G>A (p.Gly64=)
|
rs141237794
|
0.00001
|
|
NM_002230.4(JUP):c.209-8G>A
|
rs1165044090
|
0.00001
|
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
|
NM_002230.4(JUP):c.414G>A (p.Glu138=)
|
rs370003514
|
0.00001
|
|
NM_002230.4(JUP):c.469-16del
|
rs782421393
|
0.00001
|
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
|
NM_002234.4(KCNA5):c.1574G>A (p.Arg525Gln)
|
rs1274977803
|
0.00001
|
|
NM_002299.4(LCT):c.677T>C (p.Ile226Thr)
|
rs747805112
|
0.00001
|
|
NM_002335.4(LRP5):c.98C>T (p.Pro33Leu)
|
rs753259758
|
0.00001
|
|
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)
|
rs778641299
|
0.00001
|
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
|
NM_002437.5(MPV17):c.70+5G>A
|
rs267607268
|
0.00001
|
|
NM_002470.4(MYH3):c.2682+1G>A
|
rs1175557352
|
0.00001
|
|
NM_002471.4(MYH6):c.1903A>G (p.Lys635Glu)
|
rs1566512077
|
0.00001
|
|
NM_002471.4(MYH6):c.2169-8C>T
|
rs1006825673
|
0.00001
|
|
NM_002471.4(MYH6):c.2292+1G>A
|
rs771569935
|
0.00001
|
|
NM_002471.4(MYH6):c.3597C>T (p.Ala1199=)
|
rs1269257633
|
0.00001
|
|
NM_002471.4(MYH6):c.3696C>T (p.Asp1232=)
|
rs779525060
|
0.00001
|
|
NM_002471.4(MYH6):c.3733-19C>T
|
rs753409868
|
0.00001
|
|
NM_002471.4(MYH6):c.3859+7G>A
|
rs748958937
|
0.00001
|
|
NM_002471.4(MYH6):c.3909G>C (p.Leu1303=)
|
rs572682388
|
0.00001
|
|
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His)
|
rs142556730
|
0.00001
|
|
NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys)
|
rs770068575
|
0.00001
|
|
NM_002471.4(MYH6):c.5508A>G (p.Ala1836=)
|
rs193922654
|
0.00001
|
|
NM_002471.4(MYH6):c.5565+8G>A
|
rs751363583
|
0.00001
|
|
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)
|
rs760353963
|
0.00001
|
|
NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter)
|
rs765861895
|
0.00001
|
|
NM_002471.4(MYH6):c.643-3T>C
|
rs113552091
|
0.00001
|
|
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)
|
rs1320990570
|
0.00001
|
|
NM_002473.6(MYH9):c.1409A>G (p.Asn470Ser)
|
rs751720764
|
0.00001
|
|
NM_002473.6(MYH9):c.2405G>A (p.Arg802Gln)
|
rs765414397
|
0.00001
|
|
NM_002473.6(MYH9):c.5766-5C>T
|
rs746967490
|
0.00001
|
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
|
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser)
|
rs750642581
|
0.00001
|
|
NM_002474.3(MYH11):c.1852C>T (p.Leu618=)
|
rs759239390
|
0.00001
|
|
NM_002474.3(MYH11):c.1864+8C>T
|
rs1297078684
|
0.00001
|
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
|
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys)
|
rs534802983
|
0.00001
|
|
NM_002474.3(MYH11):c.2446A>C (p.Met816Leu)
|
rs1243566183
|
0.00001
|
|
NM_002474.3(MYH11):c.2476T>C (p.Tyr826His)
|
rs1436181127
|
0.00001
|
|
NM_002474.3(MYH11):c.2653-7C>T
|
rs372698538
|
0.00001
|
|
NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp)
|
rs774490005
|
0.00001
|
|
NM_002474.3(MYH11):c.3152A>G (p.Gln1051Arg)
|
rs1555557294
|
0.00001
|
|
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)
|
rs193922629
|
0.00001
|
|
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn)
|
rs746943696
|
0.00001
|
|
NM_002474.3(MYH11):c.3594G>A (p.Arg1198=)
|
rs138908402
|
0.00001
|
|
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys)
|
rs141184241
|
0.00001
|
|
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp)
|
rs754997732
|
0.00001
|
|
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)
|
rs200909802
|
0.00001
|
|
NM_002474.3(MYH11):c.4648G>A (p.Glu1550Lys)
|
rs751716762
|
0.00001
|
|
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr)
|
rs538145374
|
0.00001
|
|
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr)
|
rs200410021
|
0.00001
|
|
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys)
|
rs377663370
|
0.00001
|
|
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu)
|
rs901502893
|
0.00001
|
|
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)
|
rs780870767
|
0.00001
|
|
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu)
|
rs1005977032
|
0.00001
|
|
NM_002474.3(MYH11):c.5580C>T (p.Asp1860=)
|
rs750821241
|
0.00001
|
|
NM_002474.3(MYH11):c.573C>T (p.Val191=)
|
rs763981310
|
0.00001
|
|
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=)
|
rs764020019
|
0.00001
|
|
NM_002474.3(MYH11):c.62T>C (p.Ile21Thr)
|
rs777372840
|
0.00001
|
|
NM_002485.5(NBN):c.-7C>A
|
rs1210776869
|
0.00001
|
|
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala)
|
rs1554560492
|
0.00001
|
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
|
NM_002485.5(NBN):c.1056A>G (p.Leu352=)
|
rs369092711
|
0.00001
|
|
NM_002485.5(NBN):c.1065C>T (p.Ser355=)
|
rs876659205
|
0.00001
|
|
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr)
|
rs777259845
|
0.00001
|
|
NM_002485.5(NBN):c.1124+9T>G
|
rs864622466
|
0.00001
|
|
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)
|
rs941732827
|
0.00001
|
|
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg)
|
rs746965070
|
0.00001
|
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
|
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)
|
rs529340553
|
0.00001
|
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
|
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)
|
rs863224713
|
0.00001
|
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
|
NM_002485.5(NBN):c.1455G>A (p.Thr485=)
|
rs772864909
|
0.00001
|
|
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly)
|
rs587781624
|
0.00001
|
|
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)
|
rs876659960
|
0.00001
|
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
|
NM_002485.5(NBN):c.1761C>T (p.Val587=)
|
rs769773789
|
0.00001
|
|
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser)
|
rs876658681
|
0.00001
|
|
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)
|
rs774324419
|
0.00001
|
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
|
NM_002485.5(NBN):c.1890A>C (p.Ser630=)
|
rs587780778
|
0.00001
|
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
|
NM_002485.5(NBN):c.2073C>T (p.Val691=)
|
rs876658178
|
0.00001
|
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
|
NM_002485.5(NBN):c.2132A>T (p.His711Leu)
|
rs1810035825
|
0.00001
|
|
NM_002485.5(NBN):c.2134C>T (p.His712Tyr)
|
rs781520763
|
0.00001
|
|
NM_002485.5(NBN):c.2136T>C (p.His712=)
|
rs1429343146
|
0.00001
|
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
|
NM_002485.5(NBN):c.2196A>G (p.Gln732=)
|
rs587780780
|
0.00001
|
|
NM_002485.5(NBN):c.2247T>C (p.Tyr749=)
|
rs762740478
|
0.00001
|
|
NM_002485.5(NBN):c.321-3C>T
|
rs751356470
|
0.00001
|
|
NM_002485.5(NBN):c.333G>A (p.Glu111=)
|
rs376455714
|
0.00001
|
|
NM_002485.5(NBN):c.37+7G>A
|
rs372850559
|
0.00001
|
|
NM_002485.5(NBN):c.384A>G (p.Leu128=)
|
rs587780782
|
0.00001
|
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
|
NM_002485.5(NBN):c.448C>T (p.Leu150Phe)
|
rs773119929
|
0.00001
|
|
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)
|
rs730881858
|
0.00001
|
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
|
NM_002485.5(NBN):c.483A>G (p.Thr161=)
|
rs758276775
|
0.00001
|
|
NM_002485.5(NBN):c.584+9T>C
|
rs746913991
|
0.00001
|
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
|
NM_002485.5(NBN):c.621T>C (p.Ser207=)
|
rs876658177
|
0.00001
|
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
|
NM_002485.5(NBN):c.772G>C (p.Glu258Gln)
|
rs922057169
|
0.00001
|
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
|
NM_002495.4(NDUFS4):c.99-1G>A
|
rs376281345
|
0.00001
|
|
NM_002524.5(NRAS):c.159G>A (p.Leu53=)
|
rs114668710
|
0.00001
|
|
NM_002524.5(NRAS):c.273G>A (p.Ala91=)
|
rs1429502684
|
0.00001
|
|
NM_002524.5(NRAS):c.290+15A>G
|
rs373417606
|
0.00001
|
|
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser)
|
rs763122825
|
0.00001
|
|
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)
|
rs759637817
|
0.00001
|
|
NM_002529.4(NTRK1):c.647A>G (p.Gln216Arg)
|
rs1471711796
|
0.00001
|
|
NM_002547.3(OPHN1):c.1270T>G (p.Phe424Val)
|
rs942810312
|
0.00001
|
|
NM_002615.7(SERPINF1):c.316C>T (p.Arg106Trp)
|
rs781059865
|
0.00001
|
|
NM_002615.7(SERPINF1):c.998-1G>A
|
rs772728968
|
0.00001
|
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
|
NM_002637.4(PHKA1):c.2527-1G>T
|
rs1556257317
|
0.00001
|
|
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)
|
rs752444746
|
0.00001
|
|
NM_002691.4(POLD1):c.202+3A>G
|
rs375365167
|
0.00001
|
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
|
NM_002691.4(POLD1):c.2565-18C>T
|
rs754566158
|
0.00001
|
|
NM_002691.4(POLD1):c.2667C>T (p.Arg889=)
|
rs572100354
|
0.00001
|
|
NM_002691.4(POLD1):c.3129T>C (p.His1043=)
|
rs1060504363
|
0.00001
|
|
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn)
|
rs781132734
|
0.00001
|
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
|
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln)
|
rs746406535
|
0.00001
|
|
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)
|
rs1001570418
|
0.00001
|
|
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn)
|
rs751736420
|
0.00001
|
|
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)
|
rs796052888
|
0.00001
|
|
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)
|
rs758402960
|
0.00001
|
|
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)
|
rs1057523186
|
0.00001
|
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
|
NM_002693.3(POLG):c.3346A>G (p.Met1116Val)
|
rs201144044
|
0.00001
|
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
|
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)
|
rs149921636
|
0.00001
|
|
NM_002693.3(POLG):c.425T>C (p.Leu142Pro)
|
rs1064797202
|
0.00001
|
|
NM_002709.3(PPP1CB):c.593-17A>G
|
rs200826100
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.25A>C (p.Ser9Arg)
|
rs778468626
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.27T>G (p.Ser9Arg)
|
rs745391692
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.289C>A (p.Arg97=)
|
rs1555813217
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.303C>T (p.Ser101=)
|
rs1294747986
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.306T>C (p.Ala102=)
|
rs757511127
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.51A>T (p.Glu17Asp)
|
rs771518581
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met)
|
rs199801675
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.549+10A>C
|
rs751413552
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=)
|
rs777110464
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.790C>T (p.Arg264Cys)
|
rs2085877268
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.810A>G (p.Ala270=)
|
rs778165219
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.813G>A (p.Leu271=)
|
rs1325106678
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.891+6G>T
|
rs1222751049
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.974-6C>A
|
rs745570426
|
0.00001
|
|
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg)
|
rs761150136
|
0.00001
|
|
NM_002755.4(MAP2K1):c.405C>T (p.Ser135=)
|
rs767989355
|
0.00001
|
|
NM_002755.4(MAP2K1):c.439-14A>G
|
rs754725417
|
0.00001
|
|
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=)
|
rs371652992
|
0.00001
|
|
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly)
|
rs747807884
|
0.00001
|
|
NM_002755.4(MAP2K1):c.896-7T>C
|
rs772786705
|
0.00001
|
|
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe)
|
rs1361965478
|
0.00001
|
|
NM_002769.5(PRSS1):c.*12T>C
|
rs749470007
|
0.00001
|
|
NM_002769.5(PRSS1):c.*7C>T
|
rs1334301756
|
0.00001
|
|
NM_002769.5(PRSS1):c.-2C>A
|
rs766465080
|
0.00001
|
|
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln)
|
rs1365488828
|
0.00001
|
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
|
NM_002769.5(PRSS1):c.454+7G>A
|
rs755175379
|
0.00001
|
|
NM_002769.5(PRSS1):c.497T>C (p.Leu166Pro)
|
rs776120935
|
0.00001
|
|
NM_002769.5(PRSS1):c.589C>T (p.Gln197Ter)
|
rs757054367
|
0.00001
|
|
NM_002769.5(PRSS1):c.93G>A (p.Glu31=)
|
rs745623963
|
0.00001
|
|
NM_002778.4(PSAP):c.1350+4C>T
|
rs769353440
|
0.00001
|
|
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)
|
rs370059077
|
0.00001
|
|
NM_002834.5(PTPN11):c.1262G>A (p.Arg421Gln)
|
rs1420362815
|
0.00001
|
|
NM_002834.5(PTPN11):c.1380-14C>G
|
rs193922657
|
0.00001
|
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
|
NM_002834.5(PTPN11):c.1467C>T (p.Asp489=)
|
rs539373294
|
0.00001
|
|
NM_002834.5(PTPN11):c.15-19C>A
|
rs779587904
|
0.00001
|
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
|
NM_002834.5(PTPN11):c.1600-11C>G
|
rs1472156150
|
0.00001
|
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
|
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met)
|
rs150730493
|
0.00001
|
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
|
NM_002834.5(PTPN11):c.324C>A (p.Thr108=)
|
rs1352499844
|
0.00001
|
|
NM_002834.5(PTPN11):c.537C>T (p.Tyr179=)
|
rs141015445
|
0.00001
|
|
NM_002834.5(PTPN11):c.642+19T>C
|
rs772465708
|
0.00001
|
|
NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser)
|
rs768555552
|
0.00001
|
|
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)
|
rs777603059
|
0.00001
|
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_002834.5(PTPN11):c.951G>A (p.Lys317=)
|
rs576405446
|
0.00001
|
|
NM_002834.5(PTPN11):c.996C>T (p.Gly332=)
|
rs397507533
|
0.00001
|
|
NM_002838.5(PTPRC):c.3G>T (p.Met1Ile)
|
rs759182888
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
|
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)
|
rs113993986
|
0.00001
|
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
|
NM_002878.4(RAD51D):c.126A>G (p.Lys42=)
|
rs145361433
|
0.00001
|
|
NM_002878.4(RAD51D):c.12C>G (p.Leu4=)
|
rs786203193
|
0.00001
|
|
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp)
|
rs374730714
|
0.00001
|
|
NM_002878.4(RAD51D):c.198G>T (p.Val66=)
|
rs200810304
|
0.00001
|
|
NM_002878.4(RAD51D):c.217G>A (p.Glu73Lys)
|
rs369946779
|
0.00001
|
|
NM_002878.4(RAD51D):c.22C>T (p.Leu8=)
|
rs876659203
|
0.00001
|
|
NM_002878.4(RAD51D):c.263+1503C>T
|
rs753486358
|
0.00001
|
|
NM_002878.4(RAD51D):c.292T>A (p.Tyr98Asn)
|
rs730881946
|
0.00001
|
|
NM_002878.4(RAD51D):c.296C>T (p.Thr99Ile)
|
rs1339099286
|
0.00001
|
|
NM_002878.4(RAD51D):c.346G>A (p.Val116Ile)
|
rs753009349
|
0.00001
|
|
NM_002878.4(RAD51D):c.34C>G (p.Leu12Val)
|
rs773065220
|
0.00001
|
|
NM_002878.4(RAD51D):c.356G>A (p.Cys119Tyr)
|
rs759730492
|
0.00001
|
|
NM_002878.4(RAD51D):c.382C>T (p.Leu128=)
|
rs1438461174
|
0.00001
|
|
NM_002878.4(RAD51D):c.419G>A (p.Gly140Glu)
|
rs730881945
|
0.00001
|
|
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter)
|
rs773906955
|
0.00001
|
|
NM_002878.4(RAD51D):c.481-5T>G
|
rs374382703
|
0.00001
|
|
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)
|
rs775365939
|
0.00001
|
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
|
NM_002878.4(RAD51D):c.764G>A (p.Arg255Lys)
|
rs1056851142
|
0.00001
|
|
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)
|
rs750219200
|
0.00001
|
|
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys)
|
rs139642328
|
0.00001
|
|
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser)
|
rs587782129
|
0.00001
|
|
NM_002878.4(RAD51D):c.871C>T (p.Arg291Cys)
|
rs372038369
|
0.00001
|
|
NM_002878.4(RAD51D):c.900A>G (p.Arg300=)
|
rs370634278
|
0.00001
|
|
NM_002878.4(RAD51D):c.90C>T (p.Asp30=)
|
rs374725981
|
0.00001
|
|
NM_002878.4(RAD51D):c.910G>T (p.Gly304Cys)
|
rs759392029
|
0.00001
|
|
NM_002878.4(RAD51D):c.955C>T (p.Gln319Ter)
|
rs794726988
|
0.00001
|
|
NM_002880.4(RAF1):c.-4A>C
|
rs368465923
|
0.00001
|
|
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn)
|
rs559632360
|
0.00001
|
|
NM_002880.4(RAF1):c.1193+18G>C
|
rs201845942
|
0.00001
|
|
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser)
|
rs774198365
|
0.00001
|
|
NM_002880.4(RAF1):c.1656C>T (p.Asn552=)
|
rs772194284
|
0.00001
|
|
NM_002880.4(RAF1):c.1741A>G (p.Met581Val)
|
rs752063874
|
0.00001
|
|
NM_002880.4(RAF1):c.1895_1918del (p.Glu632_Thr640delinsAla)
|
rs2058255431
|
0.00001
|
|
NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr)
|
rs769639669
|
0.00001
|
|
NM_002880.4(RAF1):c.1914G>A (p.Thr638=)
|
rs144876026
|
0.00001
|
|
NM_002880.4(RAF1):c.1928C>T (p.Pro643Leu)
|
rs1382398408
|
0.00001
|
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
|
NM_002880.4(RAF1):c.391C>T (p.Leu131=)
|
rs878854566
|
0.00001
|
|
NM_002880.4(RAF1):c.424-6T>C
|
rs983999914
|
0.00001
|
|
NM_002880.4(RAF1):c.471A>G (p.Lys157=)
|
rs1001494773
|
0.00001
|
|
NM_002880.4(RAF1):c.708C>T (p.His236=)
|
rs370658857
|
0.00001
|
|
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn)
|
rs368796800
|
0.00001
|
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
|
NM_002880.4(RAF1):c.907A>G (p.Thr303Ala)
|
rs775898894
|
0.00001
|
|
NM_002880.4(RAF1):c.93A>G (p.Thr31=)
|
rs762478810
|
0.00001
|
|
NM_002972.4(SBF1):c.2828C>T (p.Thr943Met)
|
rs987368963
|
0.00001
|
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
|
NM_003001.5(SDHC):c.9G>A (p.Ala3=)
|
rs749265569
|
0.00001
|
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
|
NM_003036.4(SKI):c.1767+7G>A
|
rs199962561
|
0.00001
|
|
NM_003036.4(SKI):c.2140C>T (p.Arg714Cys)
|
rs1361712039
|
0.00001
|
|
NM_003036.4(SKI):c.405G>T (p.Ser135=)
|
rs769774481
|
0.00001
|
|
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)
|
rs761533681
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=)
|
rs202219455
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
|
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)
|
rs72552722
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)
|
rs1408166345
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)
|
rs749282641
|
0.00001
|
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
|
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)
|
rs762126547
|
0.00001
|
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
|
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)
|
rs386134198
|
0.00001
|
|
NM_003060.4(SLC22A5):c.652+1G>A
|
rs386134200
|
0.00001
|
|
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala)
|
rs188698686
|
0.00001
|
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
|
NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser)
|
rs770408585
|
0.00001
|
|
NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys)
|
rs774792831
|
0.00001
|
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
|
NM_003070.5(SMARCA2):c.4231C>T (p.Gln1411Ter)
|
rs752254761
|
0.00001
|
|
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)
|
rs769322487
|
0.00001
|
|
NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter)
|
rs1187536758
|
0.00001
|
|
NM_003098.3(SNTA1):c.1425+1G>A
|
rs113809208
|
0.00001
|
|
NM_003098.3(SNTA1):c.1425C>T (p.Ile475=)
|
rs775932782
|
0.00001
|
|
NM_003098.3(SNTA1):c.200C>T (p.Ala67Val)
|
rs536755693
|
0.00001
|
|
NM_003098.3(SNTA1):c.467A>G (p.Lys156Arg)
|
rs772004957
|
0.00001
|
|
NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu)
|
rs759487225
|
0.00001
|
|
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)
|
rs746668495
|
0.00001
|
|
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)
|
rs756535079
|
0.00001
|
|
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)
|
rs879253797
|
0.00001
|
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
|
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)
|
rs1187982748
|
0.00001
|
|
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)
|
rs121918657
|
0.00001
|
|
NM_003172.4(SURF1):c.752-1G>C
|
rs1391748504
|
0.00001
|
|
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)
|
rs782601312
|
0.00001
|
|
NM_003221.4(TFAP2B):c.861G>C (p.Arg287Ser)
|
rs777687254
|
0.00001
|
|
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser)
|
rs898275076
|
0.00001
|
|
NM_003239.5(TGFB3):c.11A>G (p.His4Arg)
|
rs371772819
|
0.00001
|
|
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys)
|
rs769627183
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=)
|
rs764720370
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=)
|
rs193922663
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1263T>G (p.Thr421=)
|
rs1397322686
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1525-6C>G
|
rs748388518
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
|
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=)
|
rs572435149
|
0.00001
|
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
|
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val)
|
rs397516848
|
0.00001
|
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
|
NM_003383.5(VLDLR):c.1115A>G (p.Lys372Arg)
|
rs759045327
|
0.00001
|
|
NM_003392.7(WNT5A):c.289G>A (p.Ala97Thr)
|
rs763870268
|
0.00001
|
|
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser)
|
rs1231823028
|
0.00001
|
|
NM_003476.5(CSRP3):c.255C>T (p.Gly85=)
|
rs752338221
|
0.00001
|
|
NM_003476.5(CSRP3):c.261T>C (p.His87=)
|
rs773476497
|
0.00001
|
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
|
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro)
|
rs1276517318
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)
|
rs1403125636
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp)
|
rs368008077
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)
|
rs754204295
|
0.00001
|
|
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)
|
rs312262864
|
0.00001
|
|
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter)
|
rs1243154971
|
0.00001
|
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
|
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995
|
0.00001
|
|
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)
|
rs200634033
|
0.00001
|
|
NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala)
|
rs886060754
|
0.00001
|
|
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter)
|
rs747402973
|
0.00001
|
|
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)
|
rs752043324
|
0.00001
|
|
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)
|
rs917981474
|
0.00001
|
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
|
NM_003745.2(SOCS1):c.424G>C (p.Glu142Gln)
|
rs765480579
|
0.00001
|
|
NM_003793.4(CTSF):c.1358G>A (p.Trp453Ter)
|
rs1188816866
|
0.00001
|
|
NM_003793.4(CTSF):c.1370G>A (p.Trp457Ter)
|
rs888414145
|
0.00001
|
|
NM_003793.4(CTSF):c.752C>T (p.Thr251Ile)
|
rs775268694
|
0.00001
|
|
NM_003801.4(GPAA1):c.1164+1A>G
|
rs782802396
|
0.00001
|
|
NM_003850.3(SUCLA2):c.1147C>T (p.Arg383Cys)
|
rs781744671
|
0.00001
|
|
NM_003850.3(SUCLA2):c.534+1G>A
|
rs113994161
|
0.00001
|
|
NM_003865.3(HESX1):c.244G>C (p.Glu82Gln)
|
rs980166573
|
0.00001
|
|
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)
|
rs545593935
|
0.00001
|
|
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)
|
rs113994050
|
0.00001
|
|
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)
|
rs113994053
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
|
rs386833806
|
0.00001
|
|
NM_004004.6(GJB2):c.-22-7T>C
|
rs372197957
|
0.00001
|
|
NM_004004.6(GJB2):c.104T>G (p.Ile35Ser)
|
rs756467247
|
0.00001
|
|
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)
|
rs535635403
|
0.00001
|
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
0.00001
|
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
|
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)
|
rs1003660637
|
0.00001
|
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
|
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)
|
rs528216023
|
0.00001
|
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
|
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)
|
rs1131691709
|
0.00001
|
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
|
NM_004006.3(DMD):c.1000T>A (p.Leu334Met)
|
rs1280415176
|
0.00001
|
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
|
NM_004006.3(DMD):c.1959T>C (p.Asn653=)
|
rs770238198
|
0.00001
|
|
NM_004006.3(DMD):c.2905G>A (p.Val969Ile)
|
rs750582245
|
0.00001
|
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
|
NM_004006.3(DMD):c.5739+8T>C
|
rs1321625981
|
0.00001
|
|
NM_004006.3(DMD):c.5923-7A>G
|
rs769161854
|
0.00001
|
|
NM_004006.3(DMD):c.5986G>A (p.Val1996Met)
|
rs2097556758
|
0.00001
|
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
|
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)
|
rs140791274
|
0.00001
|
|
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln)
|
rs756696562
|
0.00001
|
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
|
NM_004035.7(ACOX1):c.551C>T (p.Ser184Leu)
|
rs780887410
|
0.00001
|
|
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser)
|
rs1002618350
|
0.00001
|
|
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys)
|
rs1040712616
|
0.00001
|
|
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn)
|
rs1243051229
|
0.00001
|
|
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)
|
rs1168354526
|
0.00001
|
|
NM_004100.5(EYA4):c.438-15T>C
|
rs752763979
|
0.00001
|
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
|
NM_004171.4(SLC1A2):c.1422-6C>G
|
rs1453510369
|
0.00001
|
|
NM_004208.4(AIFM1):c.1631C>T (p.Pro544Leu)
|
rs1569415383
|
0.00001
|
|
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly)
|
rs775153939
|
0.00001
|
|
NM_004281.4(BAG3):c.1266G>C (p.Val422=)
|
rs779661440
|
0.00001
|
|
NM_004281.4(BAG3):c.1410C>T (p.Pro470=)
|
rs749034517
|
0.00001
|
|
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln)
|
rs876657746
|
0.00001
|
|
NM_004281.4(BAG3):c.508-17C>T
|
rs1410668640
|
0.00001
|
|
NM_004304.5(ALK):c.3358C>T (p.Arg1120Trp)
|
rs774951734
|
0.00001
|
|
NM_004304.5(ALK):c.3421G>A (p.Asp1141Asn)
|
rs748493584
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met)
|
rs1288758939
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val)
|
rs768415562
|
0.00001
|
|
NM_004329.3(BMPR1A):c.-6T>C
|
rs1047677696
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)
|
rs1060503407
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile)
|
rs1060503396
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=)
|
rs764090248
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1371T>C (p.Tyr457=)
|
rs1484956301
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1444A>G (p.Ile482Val)
|
rs974639091
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=)
|
rs758796892
|
0.00001
|
|
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)
|
rs879254272
|
0.00001
|
|
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His)
|
rs746231785
|
0.00001
|
|
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)
|
rs143248687
|
0.00001
|
|
NM_004329.3(BMPR1A):c.676-4A>G
|
rs929042482
|
0.00001
|
|
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=)
|
rs587782682
|
0.00001
|
|
NM_004329.3(BMPR1A):c.688A>G (p.Ile230Val)
|
rs730881433
|
0.00001
|
|
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)
|
rs587780783
|
0.00001
|
|
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys)
|
rs750513716
|
0.00001
|
|
NM_004329.3(BMPR1A):c.774G>A (p.Val258=)
|
rs540411494
|
0.00001
|
|
NM_004329.3(BMPR1A):c.869-4A>C
|
rs964020576
|
0.00001
|
|
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)
|
rs748515167
|
0.00001
|
|
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)
|
rs753521037
|
0.00001
|
|
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser)
|
rs758935249
|
0.00001
|
|
NM_004333.6(BRAF):c.1166G>A (p.Arg389His)
|
rs577372072
|
0.00001
|
|
NM_004333.6(BRAF):c.1178-10A>G
|
rs527835644
|
0.00001
|
|
NM_004333.6(BRAF):c.1369A>T (p.Ile457Phe)
|
rs1008100536
|
0.00001
|
|
NM_004333.6(BRAF):c.1673G>A (p.Arg558Gln)
|
rs1278812236
|
0.00001
|
|
NM_004333.6(BRAF):c.1690A>G (p.Met564Val)
|
rs745783052
|
0.00001
|
|
NM_004333.6(BRAF):c.193T>C (p.Leu65=)
|
rs866875749
|
0.00001
|
|
NM_004333.6(BRAF):c.2029G>A (p.Asp677Asn)
|
rs886041260
|
0.00001
|
|
NM_004333.6(BRAF):c.2082A>G (p.Ala694=)
|
rs375174370
|
0.00001
|
|
NM_004333.6(BRAF):c.2229T>C (p.Phe743=)
|
rs397516901
|
0.00001
|
|
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys)
|
rs1131691387
|
0.00001
|
|
NM_004333.6(BRAF):c.612G>C (p.Glu204Asp)
|
rs1202874043
|
0.00001
|
|
NM_004333.6(BRAF):c.750T>C (p.Phe250=)
|
rs754568893
|
0.00001
|
|
NM_004333.6(BRAF):c.82G>A (p.Gly28Ser)
|
rs1437317949
|
0.00001
|
|
NM_004333.6(BRAF):c.951C>A (p.Ser317=)
|
rs755298519
|
0.00001
|
|
NM_004333.6(BRAF):c.976A>G (p.Ile326Val)
|
rs775040765
|
0.00001
|
|
NM_004341.5(CAD):c.1579G>A (p.Glu527Lys)
|
rs141698954
|
0.00001
|
|
NM_004341.5(CAD):c.2171G>A (p.Gly724Glu)
|
rs777961046
|
0.00001
|
|
NM_004341.5(CAD):c.2335G>T (p.Ala779Ser)
|
rs369354492
|
0.00001
|
|
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln)
|
rs763410987
|
0.00001
|
|
NM_004341.5(CAD):c.6671G>A (p.Arg2224His)
|
rs138694992
|
0.00001
|
|
NM_004360.5(CDH1):c.-8G>A
|
rs879449703
|
0.00001
|
|
NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys)
|
rs1260033180
|
0.00001
|
|
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro)
|
rs587781432
|
0.00001
|
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
|
NM_004360.5(CDH1):c.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
|
NM_004360.5(CDH1):c.1209C>G (p.Ala403=)
|
rs982151802
|
0.00001
|
|
NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser)
|
rs587778175
|
0.00001
|
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
|
NM_004360.5(CDH1):c.1348T>A (p.Tyr450Asn)
|
rs750741214
|
0.00001
|
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
|
NM_004360.5(CDH1):c.1478T>C (p.Val493Ala)
|
rs786202407
|
0.00001
|
|
NM_004360.5(CDH1):c.1503G>A (p.Val501=)
|
rs775290153
|
0.00001
|
|
NM_004360.5(CDH1):c.150C>A (p.Arg50=)
|
rs786201262
|
0.00001
|
|
NM_004360.5(CDH1):c.1566-7C>T
|
rs747783435
|
0.00001
|
|
NM_004360.5(CDH1):c.1611G>A (p.Pro537=)
|
rs1060504173
|
0.00001
|
|
NM_004360.5(CDH1):c.1623C>T (p.Ala541=)
|
rs376662384
|
0.00001
|
|
NM_004360.5(CDH1):c.1797T>C (p.Thr599=)
|
rs786201932
|
0.00001
|
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
|
NM_004360.5(CDH1):c.185G>T (p.Gly62Val)
|
rs786203727
|
0.00001
|
|
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)
|
rs1284989530
|
0.00001
|
|
NM_004360.5(CDH1):c.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
|
NM_004360.5(CDH1):c.2053G>A (p.Val685Met)
|
rs550612843
|
0.00001
|
|
NM_004360.5(CDH1):c.2073C>T (p.Ala691=)
|
rs536104508
|
0.00001
|
|
NM_004360.5(CDH1):c.2091G>A (p.Lys697=)
|
rs61747635
|
0.00001
|
|
NM_004360.5(CDH1):c.2164+3A>G
|
rs750651204
|
0.00001
|
|
NM_004360.5(CDH1):c.2179C>T (p.Leu727Phe)
|
rs578069093
|
0.00001
|
|
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr)
|
rs587781859
|
0.00001
|
|
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys)
|
rs187289510
|
0.00001
|
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
|
NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp)
|
rs876660183
|
0.00001
|
|
NM_004360.5(CDH1):c.2361T>C (p.Val787=)
|
rs1555517864
|
0.00001
|
|
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)
|
rs587780120
|
0.00001
|
|
NM_004360.5(CDH1):c.254T>C (p.Val85Ala)
|
rs878854688
|
0.00001
|
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
|
NM_004360.5(CDH1):c.387+1G>A
|
rs587781919
|
0.00001
|
|
NM_004360.5(CDH1):c.387+6T>C
|
rs764434962
|
0.00001
|
|
NM_004360.5(CDH1):c.49-8C>A
|
rs774761552
|
0.00001
|
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
|
NM_004360.5(CDH1):c.570C>T (p.Tyr190=)
|
rs761753486
|
0.00001
|
|
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser)
|
rs876658424
|
0.00001
|
|
NM_004360.5(CDH1):c.604G>A (p.Val202Ile)
|
rs546716073
|
0.00001
|
|
NM_004360.5(CDH1):c.627A>G (p.Arg209=)
|
rs371601956
|
0.00001
|
|
NM_004360.5(CDH1):c.665G>A (p.Arg222Lys)
|
rs1555515287
|
0.00001
|
|
NM_004360.5(CDH1):c.879G>A (p.Val293=)
|
rs778959722
|
0.00001
|
|
NM_004360.5(CDH1):c.897C>T (p.Ala299=)
|
rs769799936
|
0.00001
|
|
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu)
|
rs367725413
|
0.00001
|
|
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=)
|
rs773624477
|
0.00001
|
|
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro)
|
rs2050743041
|
0.00001
|
|
NM_004407.4(DMP1):c.709A>G (p.Met237Val)
|
rs201413886
|
0.00001
|
|
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
|
rs1333859821
|
0.00001
|
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
|
NM_004415.4(DSP):c.1482C>T (p.Tyr494=)
|
rs772925425
|
0.00001
|
|
NM_004415.4(DSP):c.1575-16C>G
|
rs756806835
|
0.00001
|
|
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)
|
rs1214660308
|
0.00001
|
|
NM_004415.4(DSP):c.170+16G>A
|
rs1475829163
|
0.00001
|
|
NM_004415.4(DSP):c.1821A>G (p.Lys607=)
|
rs768675424
|
0.00001
|
|
NM_004415.4(DSP):c.2372T>C (p.Leu791Pro)
|
rs1406788095
|
0.00001
|
|
NM_004415.4(DSP):c.2415A>C (p.Glu805Asp)
|
rs1554107530
|
0.00001
|
|
NM_004415.4(DSP):c.2515C>T (p.His839Tyr)
|
rs1561693806
|
0.00001
|
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
|
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser)
|
rs369649373
|
0.00001
|
|
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile)
|
rs762930286
|
0.00001
|
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
|
NM_004415.4(DSP):c.4566G>A (p.Thr1522=)
|
rs1159243386
|
0.00001
|
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
|
NM_004415.4(DSP):c.5202G>C (p.Leu1734=)
|
rs755220841
|
0.00001
|
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
|
NM_004415.4(DSP):c.5412G>T (p.Gln1804His)
|
rs779809935
|
0.00001
|
|
NM_004415.4(DSP):c.5631T>C (p.Ala1877=)
|
rs1231651139
|
0.00001
|
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
|
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys)
|
rs1456378645
|
0.00001
|
|
NM_004415.4(DSP):c.5880C>T (p.Thr1960=)
|
rs375883982
|
0.00001
|
|
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)
|
rs397516950
|
0.00001
|
|
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs)
|
rs1561701721
|
0.00001
|
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
|
NM_004415.4(DSP):c.7413A>G (p.Pro2471=)
|
rs772161814
|
0.00001
|
|
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
|
rs746932951
|
0.00001
|
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
|
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)
|
rs773668457
|
0.00001
|
|
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)
|
rs760234838
|
0.00001
|
|
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)
|
rs1156517377
|
0.00001
|
|
NM_004453.4(ETFDH):c.1690+1G>T
|
rs917285990
|
0.00001
|
|
NM_004453.4(ETFDH):c.296G>A (p.Arg99His)
|
rs376630579
|
0.00001
|
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
|
NM_004463.3(FGD1):c.68C>G (p.Pro23Arg)
|
rs1358236718
|
0.00001
|
|
NM_004493.3(HSD17B10):c.364C>G (p.Leu122Val)
|
rs28935476
|
0.00001
|
|
NM_004519.4(KCNQ3):c.1800-12G>A
|
rs761923188
|
0.00001
|
|
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly)
|
rs118192248
|
0.00001
|
|
NM_004519.4(KCNQ3):c.98C>T (p.Ala33Val)
|
rs761196042
|
0.00001
|
|
NM_004525.3(LRP2):c.10697C>G (p.Thr3566Ser)
|
rs756870198
|
0.00001
|
|
NM_004525.3(LRP2):c.1742T>C (p.Ile581Thr)
|
rs779652105
|
0.00001
|
|
NM_004525.3(LRP2):c.5626A>G (p.Ile1876Val)
|
rs763254934
|
0.00001
|
|
NM_004525.3(LRP2):c.8372G>A (p.Arg2791Lys)
|
rs139266058
|
0.00001
|
|
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val)
|
rs387906872
|
0.00001
|
|
NM_004562.3(PRKN):c.205A>G (p.Ile69Val)
|
rs766391627
|
0.00001
|
|
NM_004612.4(TGFBR1):c.12G>A (p.Ala4=)
|
rs1365442897
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg)
|
rs377194685
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)
|
rs113605875
|
0.00001
|
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
|
NM_004614.5(TK2):c.156+6T>G
|
rs758270948
|
0.00001
|
|
NM_004614.5(TK2):c.268C>T (p.Arg90Cys)
|
rs281865489
|
0.00001
|
|
NM_004614.5(TK2):c.588A>T (p.Arg196Ser)
|
rs752949191
|
0.00001
|
|
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)
|
rs121965088
|
0.00001
|
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
|
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys)
|
rs771891932
|
0.00001
|
|
NM_004628.5(XPC):c.2765A>C (p.Lys922Thr)
|
rs767346855
|
0.00001
|
|
NM_004628.5(XPC):c.658C>T (p.Arg220Ter)
|
rs745679643
|
0.00001
|
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
|
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser)
|
rs142008044
|
0.00001
|
|
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)
|
rs386833883
|
0.00001
|
|
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)
|
rs386833899
|
0.00001
|
|
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu)
|
rs752777463
|
0.00001
|
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
0.00001
|
|
NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter)
|
rs140018064
|
0.00001
|
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
|
NM_004646.4(NPHS1):c.2663+2T>G
|
rs762392183
|
0.00001
|
|
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
|
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)
|
rs386833951
|
0.00001
|
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
|
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)
|
rs753476209
|
0.00001
|
|
NM_004655.4(AXIN2):c.1671C>T (p.Ser557=)
|
rs763146338
|
0.00001
|
|
NM_004655.4(AXIN2):c.1969G>A (p.Ala657Thr)
|
rs1254934681
|
0.00001
|
|
NM_004655.4(AXIN2):c.2141+5G>A
|
rs769868369
|
0.00001
|
|
NM_004655.4(AXIN2):c.2405+7G>A
|
rs373593841
|
0.00001
|
|
NM_004655.4(AXIN2):c.2499C>A (p.Gly833=)
|
rs772461187
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His)
|
rs371301199
|
0.00001
|
|
NM_004750.5(CRLF1):c.646C>T (p.Arg216Cys)
|
rs556029569
|
0.00001
|
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)
|
rs121908610
|
0.00001
|
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
|
NM_004870.4(MPDU1):c.511del (p.Leu171fs)
|
rs756471132
|
0.00001
|
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
|
NM_004958.4(MTOR):c.6681C>T (p.Val2227=)
|
rs1360883964
|
0.00001
|
|
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)
|
rs749301835
|
0.00001
|
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
|
NM_004985.5(KRAS):c.112-12C>T
|
rs202104024
|
0.00001
|
|
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile)
|
rs1407509439
|
0.00001
|
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
|
NM_004985.5(KRAS):c.451-5538A>G
|
rs755967833
|
0.00001
|
|
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser)
|
rs202161592
|
0.00001
|
|
NM_005045.4(RELN):c.5630C>A (p.Ser1877Tyr)
|
rs1253194353
|
0.00001
|
|
NM_005045.4(RELN):c.6192C>T (p.His2064=)
|
rs764737797
|
0.00001
|
|
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val)
|
rs1830260428
|
0.00001
|
|
NM_005045.4(RELN):c.8541C>T (p.Ile2847=)
|
rs746020620
|
0.00001
|
|
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys)
|
rs776529140
|
0.00001
|
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
|
NM_005055.5(RAPSN):c.691-5C>T
|
rs1291023159
|
0.00001
|
|
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)
|
rs770344400
|
0.00001
|
|
NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)
|
rs771732216
|
0.00001
|
|
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter)
|
rs1422381117
|
0.00001
|
|
NM_005084.4(PLA2G7):c.663+1G>A
|
rs201899866
|
0.00001
|
|
NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)
|
rs587776384
|
0.00001
|
|
NM_005141.5(FGB):c.656A>G (p.Gln219Arg)
|
rs778766319
|
0.00001
|
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
|
NM_005159.5(ACTC1):c.129+19_129+20insT
|
rs386134228
|
0.00001
|
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
|
NM_005188.4(CBL):c.1074A>G (p.Gln358=)
|
rs1060500678
|
0.00001
|
|
NM_005188.4(CBL):c.1244G>T (p.Gly415Val)
|
rs1388592245
|
0.00001
|
|
NM_005188.4(CBL):c.1288G>A (p.Val430Met)
|
rs991981291
|
0.00001
|
|
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)
|
rs140627020
|
0.00001
|
|
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu)
|
rs751274314
|
0.00001
|
|
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile)
|
rs571045498
|
0.00001
|
|
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr)
|
rs757126995
|
0.00001
|
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
|
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser)
|
rs997859448
|
0.00001
|
|
NM_005188.4(CBL):c.469A>G (p.Ile157Val)
|
rs730880430
|
0.00001
|
|
NM_005188.4(CBL):c.573A>G (p.Arg191=)
|
rs1254459327
|
0.00001
|
|
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)
|
rs777219451
|
0.00001
|
|
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)
|
rs765746795
|
0.00001
|
|
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)
|
rs121912670
|
0.00001
|
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
|
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)
|
rs749814308
|
0.00001
|
|
NM_005257.6(GATA6):c.508G>A (p.Val170Met)
|
rs1343278963
|
0.00001
|
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
|
NM_005343.4(HRAS):c.112-13T>A
|
rs766582484
|
0.00001
|
|
NM_005343.4(HRAS):c.141T>C (p.Asp47=)
|
rs765092617
|
0.00001
|
|
NM_005343.4(HRAS):c.378A>G (p.Glu126=)
|
rs397517140
|
0.00001
|
|
NM_005343.4(HRAS):c.510G>A (p.Lys170=)
|
rs397517143
|
0.00001
|
|
NM_005359.6(SMAD4):c.-3C>G
|
rs886053892
|
0.00001
|
|
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val)
|
rs747360831
|
0.00001
|
|
NM_005359.6(SMAD4):c.1155A>G (p.Lys385=)
|
rs752938351
|
0.00001
|
|
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=)
|
rs1441353791
|
0.00001
|
|
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=)
|
rs786201261
|
0.00001
|
|
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)
|
rs1064794204
|
0.00001
|
|
NM_005359.6(SMAD4):c.249+13_249+14insAT
|
rs1467195416
|
0.00001
|
|
NM_005359.6(SMAD4):c.249+7C>T
|
rs754207663
|
0.00001
|
|
NM_005359.6(SMAD4):c.276T>C (p.His92=)
|
rs762501162
|
0.00001
|
|
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)
|
rs281875323
|
0.00001
|
|
NM_005359.6(SMAD4):c.390A>G (p.Pro130=)
|
rs755862230
|
0.00001
|
|
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=)
|
rs779069779
|
0.00001
|
|
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser)
|
rs751763157
|
0.00001
|
|
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr)
|
rs756675590
|
0.00001
|
|
NM_005359.6(SMAD4):c.510A>G (p.Pro170=)
|
rs144226135
|
0.00001
|
|
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu)
|
rs770798845
|
0.00001
|
|
NM_005359.6(SMAD4):c.672G>A (p.Gln224=)
|
rs1397172791
|
0.00001
|
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
|
NM_005359.6(SMAD4):c.698A>G (p.His233Arg)
|
rs1555685910
|
0.00001
|
|
NM_005359.6(SMAD4):c.956-4A>G
|
rs1295343500
|
0.00001
|
|
NM_005359.6(SMAD4):c.960T>C (p.Pro320=)
|
rs1568208159
|
0.00001
|
|
NM_005360.5(MAF):c.864G>A (p.Arg288=)
|
rs749330861
|
0.00001
|
|
NM_005373.3(MPL):c.1053C>T (p.Arg351=)
|
rs753608517
|
0.00001
|
|
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)
|
rs751975712
|
0.00001
|
|
NM_005373.3(MPL):c.1327G>C (p.Gly443Arg)
|
rs895171793
|
0.00001
|
|
NM_005373.3(MPL):c.185C>T (p.Thr62Ile)
|
rs201727975
|
0.00001
|
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
|
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)
|
rs1191857860
|
0.00001
|
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
|
NM_005477.3(HCN4):c.1331A>T (p.Asp444Val)
|
rs1444329166
|
0.00001
|
|
NM_005502.4(ABCA1):c.2082T>C (p.Leu694=)
|
rs1296884530
|
0.00001
|
|
NM_005502.4(ABCA1):c.2355G>T (p.Val785=)
|
rs1355015657
|
0.00001
|
|
NM_005502.4(ABCA1):c.2375A>G (p.Glu792Gly)
|
rs762990532
|
0.00001
|
|
NM_005502.4(ABCA1):c.2678C>T (p.Thr893Ile)
|
rs758107854
|
0.00001
|
|
NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=)
|
rs752528416
|
0.00001
|
|
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=)
|
rs1250688041
|
0.00001
|
|
NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys)
|
rs760507032
|
0.00001
|
|
NM_005502.4(ABCA1):c.5621T>G (p.Phe1874Cys)
|
rs754410874
|
0.00001
|
|
NM_005502.4(ABCA1):c.6181G>A (p.Gly2061Ser)
|
rs751548064
|
0.00001
|
|
NM_005502.4(ABCA1):c.6346A>G (p.Ile2116Val)
|
rs752356763
|
0.00001
|
|
NM_005502.4(ABCA1):c.689G>A (p.Arg230His)
|
rs767710036
|
0.00001
|
|
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)
|
rs121909118
|
0.00001
|
|
NM_005529.7(HSPG2):c.10777G>C (p.Val3593Leu)
|
rs1342251864
|
0.00001
|
|
NM_005529.7(HSPG2):c.2420C>T (p.Thr807Met)
|
rs1307282477
|
0.00001
|
|
NM_005559.4(LAMA1):c.7051-9T>A
|
rs1472738373
|
0.00001
|
|
NM_005559.4(LAMA1):c.7453-15C>G
|
rs370327597
|
0.00001
|
|
NM_005562.3(LAMC2):c.1045C>T (p.Arg349Ter)
|
rs772306395
|
0.00001
|
|
NM_005562.3(LAMC2):c.1067-1G>A
|
rs1558092501
|
0.00001
|
|
NM_005585.5(SMAD6):c.730C>T (p.Leu244=)
|
rs1042398681
|
0.00001
|
|
NM_005591.4(MRE11):c.1046G>A (p.Arg349Gln)
|
rs864622683
|
0.00001
|
|
NM_005591.4(MRE11):c.1098+10A>G
|
rs1946604458
|
0.00001
|
|
NM_005591.4(MRE11):c.1476C>T (p.Ala492=)
|
rs370397034
|
0.00001
|
|
NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu)
|
rs587781461
|
0.00001
|
|
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter)
|
rs1215450873
|
0.00001
|
|
NM_005591.4(MRE11):c.1936G>A (p.Val646Ile)
|
rs531090481
|
0.00001
|
|
NM_005591.4(MRE11):c.315-2A>G
|
rs876659145
|
0.00001
|
|
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys)
|
rs587782512
|
0.00001
|
|
NM_005591.4(MRE11):c.661A>C (p.Ser221Arg)
|
rs587781272
|
0.00001
|
|
NM_005591.4(MRE11):c.931G>T (p.Asp311Tyr)
|
rs150138701
|
0.00001
|
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
|
NM_005609.4(PYGM):c.723C>T (p.Thr241=)
|
rs772848708
|
0.00001
|
|
NM_005629.4(SLC6A8):c.913-8T>C
|
rs1557045039
|
0.00001
|
|
NM_005633.4(SOS1):c.1047C>T (p.His349=)
|
rs1043516636
|
0.00001
|
|
NM_005633.4(SOS1):c.1202+3G>A
|
rs904487658
|
0.00001
|
|
NM_005633.4(SOS1):c.1278G>A (p.Gln426=)
|
rs1352756240
|
0.00001
|
|
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)
|
rs981234810
|
0.00001
|
|
NM_005633.4(SOS1):c.1719T>C (p.Asp573=)
|
rs746674452
|
0.00001
|
|
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)
|
rs758699499
|
0.00001
|
|
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr)
|
rs769891933
|
0.00001
|
|
NM_005633.4(SOS1):c.213+9A>G
|
rs553097014
|
0.00001
|
|
NM_005633.4(SOS1):c.2391-17T>C
|
rs551161418
|
0.00001
|
|
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser)
|
rs397517158
|
0.00001
|
|
NM_005633.4(SOS1):c.2511-9T>A
|
rs769427441
|
0.00001
|
|
NM_005633.4(SOS1):c.2604T>C (p.Phe868=)
|
rs756520305
|
0.00001
|
|
NM_005633.4(SOS1):c.2606A>G (p.Asn869Ser)
|
rs730881030
|
0.00001
|
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
|
NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln)
|
rs1553351453
|
0.00001
|
|
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)
|
rs1321926273
|
0.00001
|
|
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys)
|
rs730881031
|
0.00001
|
|
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn)
|
rs891035934
|
0.00001
|
|
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=)
|
rs142431345
|
0.00001
|
|
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=)
|
rs766864647
|
0.00001
|
|
NM_005633.4(SOS1):c.3114T>G (p.Pro1038=)
|
rs777755307
|
0.00001
|
|
NM_005633.4(SOS1):c.3257C>T (p.Pro1086Leu)
|
rs730881028
|
0.00001
|
|
NM_005633.4(SOS1):c.3391+3T>C
|
rs761579423
|
0.00001
|
|
NM_005633.4(SOS1):c.3438A>G (p.Glu1146=)
|
rs1226908698
|
0.00001
|
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
|
NM_005633.4(SOS1):c.3510+9A>G
|
rs1229357367
|
0.00001
|
|
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)
|
rs730881035
|
0.00001
|
|
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=)
|
rs200485215
|
0.00001
|
|
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr)
|
rs768987761
|
0.00001
|
|
NM_005633.4(SOS1):c.3732T>C (p.His1244=)
|
rs1391583247
|
0.00001
|
|
NM_005633.4(SOS1):c.376G>A (p.Val126Ile)
|
rs755770649
|
0.00001
|
|
NM_005633.4(SOS1):c.3832T>C (p.Leu1278=)
|
rs750354913
|
0.00001
|
|
NM_005633.4(SOS1):c.429G>A (p.Lys143=)
|
rs773264070
|
0.00001
|
|
NM_005633.4(SOS1):c.511-5T>C
|
rs1558491271
|
0.00001
|
|
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)
|
rs374761537
|
0.00001
|
|
NM_005633.4(SOS1):c.675T>G (p.Val225=)
|
rs371482290
|
0.00001
|
|
NM_005633.4(SOS1):c.688T>G (p.Phe230Val)
|
rs397517177
|
0.00001
|
|
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu)
|
rs1158811958
|
0.00001
|
|
NM_005633.4(SOS1):c.847T>C (p.Phe283Leu)
|
rs1222945881
|
0.00001
|
|
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys)
|
rs756679265
|
0.00001
|
|
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe)
|
rs1336071409
|
0.00001
|
|
NM_005677.4(COLQ):c.1A>G (p.Met1Val)
|
rs754147251
|
0.00001
|
|
NM_005677.4(COLQ):c.219+1G>C
|
rs149020371
|
0.00001
|
|
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)
|
rs1491203033
|
0.00001
|
|
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)
|
rs373428259
|
0.00001
|
|
NM_005732.4(RAD50):c.129+5G>A
|
rs587781409
|
0.00001
|
|
NM_005732.4(RAD50):c.1353T>A (p.Ser451Arg)
|
rs587782523
|
0.00001
|
|
NM_005732.4(RAD50):c.1605T>C (p.Arg535=)
|
rs878854785
|
0.00001
|
|
NM_005732.4(RAD50):c.2092A>G (p.Ile698Val)
|
rs781213977
|
0.00001
|
|
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu)
|
rs549559726
|
0.00001
|
|
NM_005732.4(RAD50):c.2409A>G (p.Lys803=)
|
rs762456674
|
0.00001
|
|
NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln)
|
rs572533256
|
0.00001
|
|
NM_005732.4(RAD50):c.2472T>G (p.Thr824=)
|
rs1358470664
|
0.00001
|
|
NM_005732.4(RAD50):c.2502G>C (p.Glu834Asp)
|
rs377438445
|
0.00001
|
|
NM_005732.4(RAD50):c.2517dup (p.Asp840fs)
|
rs786201897
|
0.00001
|
|
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg)
|
rs373817937
|
0.00001
|
|
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs)
|
rs768522804
|
0.00001
|
|
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile)
|
rs769003601
|
0.00001
|
|
NM_005732.4(RAD50):c.323A>G (p.Lys108Arg)
|
rs542347773
|
0.00001
|
|
NM_005732.4(RAD50):c.353T>C (p.Ile118Thr)
|
rs200472836
|
0.00001
|
|
NM_005732.4(RAD50):c.3660G>A (p.Thr1220=)
|
rs758026288
|
0.00001
|
|
NM_005732.4(RAD50):c.3767G>A (p.Arg1256His)
|
rs786203127
|
0.00001
|
|
NM_005732.4(RAD50):c.3824A>G (p.Glu1275Gly)
|
rs372924978
|
0.00001
|
|
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg)
|
rs201766077
|
0.00001
|
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
|
NM_005732.4(RAD50):c.927C>T (p.His309=)
|
rs758239327
|
0.00001
|
|
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr)
|
rs750007670
|
0.00001
|
|
NM_005751.5(AKAP9):c.11347C>T (p.Arg3783Ter)
|
rs376277241
|
0.00001
|
|
NM_005751.5(AKAP9):c.11348G>A (p.Arg3783Gln)
|
rs143967328
|
0.00001
|
|
NM_005751.5(AKAP9):c.2312C>A (p.Ala771Glu)
|
rs1259922164
|
0.00001
|
|
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)
|
rs193922723
|
0.00001
|
|
NM_005751.5(AKAP9):c.5460G>T (p.Glu1820Asp)
|
rs890787072
|
0.00001
|
|
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser)
|
rs767966419
|
0.00001
|
|
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=)
|
rs1315064294
|
0.00001
|
|
NM_005751.5(AKAP9):c.7200G>A (p.Gln2400=)
|
rs1813131577
|
0.00001
|
|
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln)
|
rs752685614
|
0.00001
|
|
NM_005787.6(ALG3):c.611C>T (p.Ala204Val)
|
rs1719034314
|
0.00001
|
|
NM_005902.4(SMAD3):c.532+8C>T
|
rs370879516
|
0.00001
|
|
NM_005902.4(SMAD3):c.603C>T (p.Asp201=)
|
rs774814963
|
0.00001
|
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
|
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)
|
rs752343321
|
0.00001
|
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
|
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)
|
rs763539350
|
0.00001
|
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
|
NM_005981.5(TSPAN31):c.*2037dup
|
rs757684130
|
0.00001
|
|
NM_005993.5(TBCD):c.1224-2A>G
|
rs1161413517
|
0.00001
|
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
|
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)
|
rs372249044
|
0.00001
|
|
NM_006030.4(CACNA2D2):c.2935C>T (p.Leu979Phe)
|
rs587637498
|
0.00001
|
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
|
NM_006073.4(TRDN):c.1567+2T>C
|
rs1384476992
|
0.00001
|
|
NM_006118.4(HAX1):c.136C>T (p.Arg46Cys)
|
rs1170911395
|
0.00001
|
|
NM_006180.6(NTRK2):c.1937+18G>C
|
rs201024551
|
0.00001
|
|
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)
|
rs1782357136
|
0.00001
|
|
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg)
|
rs750826256
|
0.00001
|
|
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn)
|
rs749305408
|
0.00001
|
|
NM_006231.4(POLE):c.2361C>T (p.Asp787=)
|
rs1060504070
|
0.00001
|
|
NM_006231.4(POLE):c.272G>A (p.Gly91Glu)
|
rs376348304
|
0.00001
|
|
NM_006231.4(POLE):c.4018A>G (p.Ser1340Gly)
|
rs1248556901
|
0.00001
|
|
NM_006231.4(POLE):c.4245C>T (p.Asn1415=)
|
rs778896278
|
0.00001
|
|
NM_006231.4(POLE):c.4445-7T>C
|
rs754001064
|
0.00001
|
|
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys)
|
rs542430685
|
0.00001
|
|
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln)
|
rs762965148
|
0.00001
|
|
NM_006231.4(POLE):c.5130C>T (p.Asp1710=)
|
rs1340452589
|
0.00001
|
|
NM_006231.4(POLE):c.5274C>T (p.Phe1758=)
|
rs921653059
|
0.00001
|
|
NM_006231.4(POLE):c.5559C>T (p.Ile1853=)
|
rs1032264693
|
0.00001
|
|
NM_006231.4(POLE):c.5678+1G>A
|
rs138748289
|
0.00001
|
|
NM_006231.4(POLE):c.5726G>A (p.Arg1909Gln)
|
rs201455049
|
0.00001
|
|
NM_006231.4(POLE):c.6298C>G (p.Pro2100Ala)
|
rs562071800
|
0.00001
|
|
NM_006231.4(POLE):c.84A>T (p.Ser28=)
|
rs774280853
|
0.00001
|
|
NM_006258.4(PRKG1):c.2053G>C (p.Asp685His)
|
rs1398800687
|
0.00001
|
|
NM_006258.4(PRKG1):c.585C>T (p.Thr195=)
|
rs139104275
|
0.00001
|
|
NM_006258.4(PRKG1):c.763-8C>T
|
rs777859336
|
0.00001
|
|
NM_006270.5(RRAS):c.-5G>A
|
rs1177664746
|
0.00001
|
|
NM_006270.5(RRAS):c.153+13del
|
rs1224992203
|
0.00001
|
|
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
|
rs537601977
|
0.00001
|
|
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr)
|
rs1358894507
|
0.00001
|
|
NM_006270.5(RRAS):c.372G>A (p.Thr124=)
|
rs368978550
|
0.00001
|
|
NM_006270.5(RRAS):c.421G>A (p.Gly141Arg)
|
rs373485975
|
0.00001
|
|
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
|
rs151171681
|
0.00001
|
|
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
|
rs538230538
|
0.00001
|
|
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
|
rs558985706
|
0.00001
|
|
NM_006295.3(VARS1):c.3622C>T (p.Arg1208Ter)
|
rs776596987
|
0.00001
|
|
NM_006361.6(HOXB13):c.199C>T (p.Pro67Ser)
|
rs587780161
|
0.00001
|
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
|
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile)
|
rs1839521789
|
0.00001
|
|
NM_006393.3(NEBL):c.2913C>T (p.Asp971=)
|
rs575423101
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
|
NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter)
|
rs758622840
|
0.00001
|
|
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)
|
rs80358264
|
0.00001
|
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
|
NM_006493.4(CLN5):c.472T>C (p.Trp158Arg)
|
rs147065248
|
0.00001
|
|
NM_006506.5(RASA2):c.108G>A (p.Val36=)
|
rs777913288
|
0.00001
|
|
NM_006506.5(RASA2):c.133+10G>A
|
rs775544477
|
0.00001
|
|
NM_006506.5(RASA2):c.1449T>C (p.Tyr483=)
|
rs772636003
|
0.00001
|
|
NM_006506.5(RASA2):c.1886G>A (p.Arg629Gln)
|
rs1469875156
|
0.00001
|
|
NM_006506.5(RASA2):c.2225C>T (p.Ala742Val)
|
rs774848188
|
0.00001
|
|
NM_006506.5(RASA2):c.2329+7A>G
|
rs1444704196
|
0.00001
|
|
NM_006506.5(RASA2):c.792C>G (p.Val264=)
|
rs771687765
|
0.00001
|
|
NM_006506.5(RASA2):c.847T>G (p.Ser283Ala)
|
rs186067272
|
0.00001
|
|
NM_006506.5(RASA2):c.863+13C>A
|
rs776517254
|
0.00001
|
|
NM_006514.4(SCN10A):c.3619G>T (p.Ala1207Ser)
|
rs756162245
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)
|
rs755679518
|
0.00001
|
|
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)
|
rs775408842
|
0.00001
|
|
NM_006565.4(CTCF):c.2089G>A (p.Ala697Thr)
|
rs201916739
|
0.00001
|
|
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter)
|
rs770597592
|
0.00001
|
|
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys)
|
rs1390624793
|
0.00001
|
|
NM_006662.3(SRCAP):c.4001C>T (p.Pro1334Leu)
|
rs560375220
|
0.00001
|
|
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter)
|
rs1251881194
|
0.00001
|
|
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln)
|
rs1367238054
|
0.00001
|
|
NM_006766.5(KAT6A):c.3740G>T (p.Ser1247Ile)
|
rs1564005684
|
0.00001
|
|
NM_006767.4(LZTR1):c.1149+3A>G
|
rs542715642
|
0.00001
|
|
NM_006767.4(LZTR1):c.1173C>T (p.His391=)
|
rs761619498
|
0.00001
|
|
NM_006767.4(LZTR1):c.1260+11T>A
|
rs1298556569
|
0.00001
|
|
NM_006767.4(LZTR1):c.1260+3G>A
|
rs1408575907
|
0.00001
|
|
NM_006767.4(LZTR1):c.1283C>T (p.Thr428Met)
|
rs1253225013
|
0.00001
|
|
NM_006767.4(LZTR1):c.1354-5T>A
|
rs368421766
|
0.00001
|
|
NM_006767.4(LZTR1):c.1609C>T (p.Arg537Trp)
|
rs754507552
|
0.00001
|
|
NM_006767.4(LZTR1):c.1615G>A (p.Gly539Ser)
|
rs1232362523
|
0.00001
|
|
NM_006767.4(LZTR1):c.1616-11C>G
|
rs767886246
|
0.00001
|
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
|
NM_006767.4(LZTR1):c.1735G>A (p.Val579Met)
|
rs765416902
|
0.00001
|
|
NM_006767.4(LZTR1):c.1842G>A (p.Met614Ile)
|
rs763044573
|
0.00001
|
|
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)
|
rs781776791
|
0.00001
|
|
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu)
|
rs553579098
|
0.00001
|
|
NM_006767.4(LZTR1):c.1934T>G (p.Val645Gly)
|
rs1190268151
|
0.00001
|
|
NM_006767.4(LZTR1):c.1943-6C>A
|
rs757311430
|
0.00001
|
|
NM_006767.4(LZTR1):c.1964T>C (p.Met655Thr)
|
rs199696566
|
0.00001
|
|
NM_006767.4(LZTR1):c.1971A>G (p.Ala657=)
|
rs764398850
|
0.00001
|
|
NM_006767.4(LZTR1):c.1986G>A (p.Ala662=)
|
rs779018174
|
0.00001
|
|
NM_006767.4(LZTR1):c.2145C>T (p.Pro715=)
|
rs769927418
|
0.00001
|
|
NM_006767.4(LZTR1):c.2216C>T (p.Ser739Leu)
|
rs762991620
|
0.00001
|
|
NM_006767.4(LZTR1):c.2278T>C (p.Cys760Arg)
|
rs1419388177
|
0.00001
|
|
NM_006767.4(LZTR1):c.2312A>G (p.Gln771Arg)
|
rs766983171
|
0.00001
|
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
|
NM_006767.4(LZTR1):c.450C>T (p.Asn150=)
|
rs560328641
|
0.00001
|
|
NM_006767.4(LZTR1):c.482del (p.Gln161fs)
|
rs1924462309
|
0.00001
|
|
NM_006767.4(LZTR1):c.519C>T (p.Val173=)
|
rs1359944207
|
0.00001
|
|
NM_006767.4(LZTR1):c.522T>G (p.Ala174=)
|
rs745514794
|
0.00001
|
|
NM_006767.4(LZTR1):c.542C>T (p.Thr181Met)
|
rs774992323
|
0.00001
|
|
NM_006767.4(LZTR1):c.588C>T (p.Asn196=)
|
rs752462405
|
0.00001
|
|
NM_006767.4(LZTR1):c.589G>A (p.Ala197Thr)
|
rs371522487
|
0.00001
|
|
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)
|
rs749437251
|
0.00001
|
|
NM_006767.4(LZTR1):c.723T>C (p.Phe241=)
|
rs138965288
|
0.00001
|
|
NM_006767.4(LZTR1):c.786C>T (p.Asp262=)
|
rs759517574
|
0.00001
|
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln)
|
rs959800067
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.3583-3C>T
|
rs771888857
|
0.00001
|
|
NM_006785.4(MALT1):c.1868C>T (p.Pro623Leu)
|
rs1004957123
|
0.00001
|
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
|
NM_006904.7(PRKDC):c.1826C>T (p.Ala609Val)
|
rs761291525
|
0.00001
|
|
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
|
NM_006912.6(RIT1):c.107-9C>G
|
rs200597833
|
0.00001
|
|
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
|
rs747376042
|
0.00001
|
|
NM_006929.5(SKIC2):c.1732C>T (p.Arg578Cys)
|
rs762204789
|
0.00001
|
|
NM_006939.4(SOS2):c.1059G>A (p.Glu353=)
|
rs1231657921
|
0.00001
|
|
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu)
|
rs201265921
|
0.00001
|
|
NM_006939.4(SOS2):c.1446T>C (p.Ser482=)
|
rs1468565433
|
0.00001
|
|
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys)
|
rs148019428
|
0.00001
|
|
NM_006939.4(SOS2):c.189G>C (p.Gln63His)
|
rs771269309
|
0.00001
|
|
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp)
|
rs751563078
|
0.00001
|
|
NM_006939.4(SOS2):c.2190A>G (p.Ser730=)
|
rs1424881275
|
0.00001
|
|
NM_006939.4(SOS2):c.2958+17C>T
|
rs889359090
|
0.00001
|
|
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser)
|
rs779413196
|
0.00001
|
|
NM_006939.4(SOS2):c.3147A>G (p.Ser1049=)
|
rs750291417
|
0.00001
|
|
NM_006939.4(SOS2):c.3573T>G (p.Val1191=)
|
rs756940411
|
0.00001
|
|
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=)
|
rs747521589
|
0.00001
|
|
NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=)
|
rs1163199209
|
0.00001
|
|
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=)
|
rs751408063
|
0.00001
|
|
NM_006939.4(SOS2):c.396T>C (p.Ala132=)
|
rs774402309
|
0.00001
|
|
NM_006939.4(SOS2):c.813C>T (p.Ser271=)
|
rs371598827
|
0.00001
|
|
NM_006939.4(SOS2):c.859-10A>T
|
rs761341096
|
0.00001
|
|
NM_006939.4(SOS2):c.958C>T (p.Leu320=)
|
rs777858898
|
0.00001
|
|
NM_006939.4(SOS2):c.970-14T>A
|
rs758285778
|
0.00001
|
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
|
NM_006941.4(SOX10):c.622A>G (p.Lys208Glu)
|
rs1400625808
|
0.00001
|
|
NM_006946.4(SPTBN2):c.1155G>A (p.Thr385=)
|
rs773673472
|
0.00001
|
|
NM_006946.4(SPTBN2):c.1753G>A (p.Glu585Lys)
|
rs573639670
|
0.00001
|
|
NM_006946.4(SPTBN2):c.6138C>T (p.Asp2046=)
|
rs766058704
|
0.00001
|
|
NM_006947.4(SRP72):c.1477C>A (p.Leu493Ile)
|
rs765292874
|
0.00001
|
|
NM_006949.4(STXBP2):c.184A>G (p.Asn62Asp)
|
rs368283130
|
0.00001
|
|
NM_006949.4(STXBP2):c.902+4C>T
|
rs1349313045
|
0.00001
|
|
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly)
|
rs181700296
|
0.00001
|
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
0.00001
|
|
NM_007078.3(LDB3):c.1371A>T (p.Pro457=)
|
rs780588100
|
0.00001
|
|
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser)
|
rs1349969494
|
0.00001
|
|
NM_007078.3(LDB3):c.2091C>T (p.Cys697=)
|
rs571356142
|
0.00001
|
|
NM_007078.3(LDB3):c.2179T>C (p.Leu727=)
|
rs777876844
|
0.00001
|
|
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)
|
rs772912790
|
0.00001
|
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
|
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter)
|
rs727503123
|
0.00001
|
|
NM_007078.3(LDB3):c.81C>G (p.Leu27=)
|
rs1554844351
|
0.00001
|
|
NM_007078.3(LDB3):c.888A>G (p.Arg296=)
|
rs776143895
|
0.00001
|
|
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala)
|
rs953198544
|
0.00001
|
|
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)
|
rs367792378
|
0.00001
|
|
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)
|
rs121913661
|
0.00001
|
|
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His)
|
rs374660293
|
0.00001
|
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
|
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile)
|
rs876658682
|
0.00001
|
|
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser)
|
rs369070738
|
0.00001
|
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
|
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr)
|
rs773600515
|
0.00001
|
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
|
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
|
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys)
|
rs753204096
|
0.00001
|
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
|
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val)
|
rs2052180370
|
0.00001
|
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
|
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala)
|
rs1569170717
|
0.00001
|
|
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr)
|
rs886041171
|
0.00001
|
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
|
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr)
|
rs876661027
|
0.00001
|
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
0.00001
|
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+6T>C
|
rs1060502720
|
0.00001
|
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
|
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg)
|
rs753257724
|
0.00001
|
|
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+5G>A
|
rs764394796
|
0.00001
|
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
|
NM_007194.4(CHEK2):c.908+10A>G
|
rs774973319
|
0.00001
|
|
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
|
NM_007215.4(POLG2):c.-5G>A
|
rs782806271
|
0.00001
|
|
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)
|
rs796052850
|
0.00001
|
|
NM_007294.4(BRCA1):c.1026G>A (p.Leu342=)
|
rs1171571879
|
0.00001
|
|
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter)
|
rs80357472
|
0.00001
|
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
|
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)
|
rs56056711
|
0.00001
|
|
NM_007294.4(BRCA1):c.1113T>C (p.Pro371=)
|
rs876658619
|
0.00001
|
|
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)
|
rs397508838
|
0.00001
|
|
NM_007294.4(BRCA1):c.1228G>A (p.Ala410Thr)
|
rs779974365
|
0.00001
|
|
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr)
|
rs80357488
|
0.00001
|
|
NM_007294.4(BRCA1):c.1275T>A (p.Ser425=)
|
rs786201160
|
0.00001
|
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
|
NM_007294.4(BRCA1):c.134+15G>A
|
rs863224417
|
0.00001
|
|
NM_007294.4(BRCA1):c.134+19dup
|
rs768647585
|
0.00001
|
|
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)
|
rs80356863
|
0.00001
|
|
NM_007294.4(BRCA1):c.135-18T>G
|
rs80358085
|
0.00001
|
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
|
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)
|
rs80357360
|
0.00001
|
|
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)
|
rs56046357
|
0.00001
|
|
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg)
|
rs80357221
|
0.00001
|
|
NM_007294.4(BRCA1):c.1386G>A (p.Gly462=)
|
rs876659749
|
0.00001
|
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
|
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)
|
rs786201323
|
0.00001
|
|
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg)
|
rs62625304
|
0.00001
|
|
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)
|
rs80357445
|
0.00001
|
|
NM_007294.4(BRCA1):c.1524T>C (p.Pro508=)
|
rs200616937
|
0.00001
|
|
NM_007294.4(BRCA1):c.1541C>T (p.Pro514Leu)
|
rs56100707
|
0.00001
|
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
|
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln)
|
rs397508882
|
0.00001
|
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
|
NM_007294.4(BRCA1):c.1639A>C (p.Asn547His)
|
rs1060502351
|
0.00001
|
|
NM_007294.4(BRCA1):c.1658A>G (p.His553Arg)
|
rs748431827
|
0.00001
|
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
|
NM_007294.4(BRCA1):c.1702C>T (p.Pro568Ser)
|
rs755122577
|
0.00001
|
|
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val)
|
rs1310719199
|
0.00001
|
|
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr)
|
rs80357159
|
0.00001
|
|
NM_007294.4(BRCA1):c.172C>G (p.Pro58Ala)
|
rs397508904
|
0.00001
|
|
NM_007294.4(BRCA1):c.1766G>T (p.Ser589Ile)
|
rs1567798335
|
0.00001
|
|
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)
|
rs80356859
|
0.00001
|
|
NM_007294.4(BRCA1):c.1827T>C (p.Asn609=)
|
rs757657445
|
0.00001
|
|
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)
|
rs1800064
|
0.00001
|
|
NM_007294.4(BRCA1):c.1878A>G (p.Val626=)
|
rs8176154
|
0.00001
|
|
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu)
|
rs398122647
|
0.00001
|
|
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr)
|
rs398122649
|
0.00001
|
|
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)
|
rs80357064
|
0.00001
|
|
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His)
|
rs587782843
|
0.00001
|
|
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr)
|
rs730881474
|
0.00001
|
|
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)
|
rs80357344
|
0.00001
|
|
NM_007294.4(BRCA1):c.193A>G (p.Lys65Glu)
|
rs756948486
|
0.00001
|
|
NM_007294.4(BRCA1):c.1944A>G (p.Glu648=)
|
rs876660781
|
0.00001
|
|
NM_007294.4(BRCA1):c.1950A>T (p.Ile650=)
|
rs1060504579
|
0.00001
|
|
NM_007294.4(BRCA1):c.1959A>G (p.Lys653=)
|
rs767530204
|
0.00001
|
|
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)
|
rs80357355
|
0.00001
|
|
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg)
|
rs143920945
|
0.00001
|
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
|
NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile)
|
rs273898675
|
0.00001
|
|
NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly)
|
rs756748588
|
0.00001
|
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
0.00001
|
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
|
NM_007294.4(BRCA1):c.216C>G (p.Ser72Arg)
|
rs80356967
|
0.00001
|
|
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)
|
rs80356912
|
0.00001
|
|
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala)
|
rs397507196
|
0.00001
|
|
NM_007294.4(BRCA1):c.2215A>G (p.Lys739Glu)
|
rs56329598
|
0.00001
|
|
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)
|
rs80357051
|
0.00001
|
|
NM_007294.4(BRCA1):c.2246A>T (p.Asp749Val)
|
rs730881479
|
0.00001
|
|
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr)
|
rs587781684
|
0.00001
|
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
|
NM_007294.4(BRCA1):c.22G>A (p.Val8Ile)
|
rs528902306
|
0.00001
|
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
|
NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser)
|
rs730881481
|
0.00001
|
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
|
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
|
rs80356948
|
0.00001
|
|
NM_007294.4(BRCA1):c.2404G>C (p.Val802Leu)
|
rs876660885
|
0.00001
|
|
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr)
|
rs80357144
|
0.00001
|
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
|
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal)
|
rs80358331
|
0.00001
|
|
NM_007294.4(BRCA1):c.2497T>C (p.Leu833=)
|
rs887578121
|
0.00001
|
|
NM_007294.4(BRCA1):c.2564A>C (p.Gln855Pro)
|
rs768001441
|
0.00001
|
|
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=)
|
rs556684572
|
0.00001
|
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
|
NM_007294.4(BRCA1):c.259T>G (p.Leu87Val)
|
rs80357091
|
0.00001
|
|
NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu)
|
rs587776484
|
0.00001
|
|
NM_007294.4(BRCA1):c.2750T>C (p.Ile917Thr)
|
rs587781492
|
0.00001
|
|
NM_007294.4(BRCA1):c.2775C>T (p.Ile925=)
|
rs786201104
|
0.00001
|
|
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu)
|
rs763639161
|
0.00001
|
|
NM_007294.4(BRCA1):c.2820T>C (p.Asp940=)
|
rs1414992991
|
0.00001
|
|
NM_007294.4(BRCA1):c.2860C>T (p.Leu954=)
|
rs730881452
|
0.00001
|
|
NM_007294.4(BRCA1):c.2920T>C (p.Leu974=)
|
rs763845063
|
0.00001
|
|
NM_007294.4(BRCA1):c.2935C>T (p.Arg979Cys)
|
rs80356970
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+10G>A
|
rs80358001
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
|
NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln)
|
rs786202534
|
0.00001
|
|
NM_007294.4(BRCA1):c.302-11G>A
|
rs1057521776
|
0.00001
|
|
NM_007294.4(BRCA1):c.302-2del
|
rs273899695
|
0.00001
|
|
NM_007294.4(BRCA1):c.302A>G (p.Tyr101Cys)
|
rs587781798
|
0.00001
|
|
NM_007294.4(BRCA1):c.303T>C (p.Tyr101=)
|
rs80356936
|
0.00001
|
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
|
NM_007294.4(BRCA1):c.3060A>G (p.Pro1020=)
|
rs781435355
|
0.00001
|
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
|
NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser)
|
rs398122672
|
0.00001
|
|
NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly)
|
rs80357479
|
0.00001
|
|
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)
|
rs41293445
|
0.00001
|
|
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)
|
rs786202155
|
0.00001
|
|
NM_007294.4(BRCA1):c.3267G>T (p.Leu1089Phe)
|
rs767544239
|
0.00001
|
|
NM_007294.4(BRCA1):c.3286del (p.Gln1096fs)
|
rs80357533
|
0.00001
|
|
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)
|
rs80356900
|
0.00001
|
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
|
NM_007294.4(BRCA1):c.3359T>A (p.Val1120Asp)
|
rs1361427704
|
0.00001
|
|
NM_007294.4(BRCA1):c.3391G>A (p.Asp1131Asn)
|
rs1555587816
|
0.00001
|
|
NM_007294.4(BRCA1):c.3409A>G (p.Met1137Val)
|
rs771479616
|
0.00001
|
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
|
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
|
rs80357509
|
0.00001
|
|
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)
|
rs80357134
|
0.00001
|
|
NM_007294.4(BRCA1):c.3533G>A (p.Ser1178Asn)
|
rs1294360179
|
0.00001
|
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
|
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn)
|
rs80356975
|
0.00001
|
|
NM_007294.4(BRCA1):c.3576T>C (p.Pro1192=)
|
rs766447664
|
0.00001
|
|
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
|
rs80356944
|
0.00001
|
|
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
|
rs587782458
|
0.00001
|
|
NM_007294.4(BRCA1):c.3601G>A (p.Gly1201Ser)
|
rs55725337
|
0.00001
|
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
|
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val)
|
rs273900711
|
0.00001
|
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
|
NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly)
|
rs80356894
|
0.00001
|
|
NM_007294.4(BRCA1):c.3684C>T (p.His1228=)
|
rs786201623
|
0.00001
|
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
|
NM_007294.4(BRCA1):c.3717T>A (p.Ser1239=)
|
rs730881453
|
0.00001
|
|
NM_007294.4(BRCA1):c.3738C>T (p.Thr1246=)
|
rs778655093
|
0.00001
|
|
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser)
|
rs80357099
|
0.00001
|
|
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp)
|
rs145903082
|
0.00001
|
|
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)
|
rs1011096937
|
0.00001
|
|
NM_007294.4(BRCA1):c.378A>G (p.Gln126=)
|
rs786201256
|
0.00001
|
|
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr)
|
rs80357160
|
0.00001
|
|
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser)
|
rs587782190
|
0.00001
|
|
NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn)
|
rs80357189
|
0.00001
|
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
|
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)
|
rs142383077
|
0.00001
|
|
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)
|
rs80357254
|
0.00001
|
|
NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr)
|
rs1450793674
|
0.00001
|
|
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)
|
rs1057519496
|
0.00001
|
|
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)
|
rs80357500
|
0.00001
|
|
NM_007294.4(BRCA1):c.3956G>A (p.Gly1319Asp)
|
rs587782634
|
0.00001
|
|
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)
|
rs80357457
|
0.00001
|
|
NM_007294.4(BRCA1):c.4028A>T (p.Asp1343Val)
|
rs775339017
|
0.00001
|
|
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
|
rs55639854
|
0.00001
|
|
NM_007294.4(BRCA1):c.4032T>A (p.Asp1344Glu)
|
rs769589630
|
0.00001
|
|
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)
|
rs758515222
|
0.00001
|
|
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)
|
rs397507225
|
0.00001
|
|
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)
|
rs80357218
|
0.00001
|
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
|
NM_007294.4(BRCA1):c.4097-20C>T
|
rs80358169
|
0.00001
|
|
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)
|
rs55848034
|
0.00001
|
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
|
NM_007294.4(BRCA1):c.4144T>A (p.Cys1382Ser)
|
rs786202106
|
0.00001
|
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
|
NM_007294.4(BRCA1):c.4169A>G (p.Asp1390Gly)
|
rs1165149350
|
0.00001
|
|
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)
|
rs397507226
|
0.00001
|
|
NM_007294.4(BRCA1):c.4185+9C>T
|
rs80358034
|
0.00001
|
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
|
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)
|
rs786201224
|
0.00001
|
|
NM_007294.4(BRCA1):c.420T>C (p.Ser140=)
|
rs730881448
|
0.00001
|
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
|
NM_007294.4(BRCA1):c.4237G>A (p.Glu1413Lys)
|
rs397509153
|
0.00001
|
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
|
NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=)
|
rs752824502
|
0.00001
|
|
NM_007294.4(BRCA1):c.4339C>A (p.Gln1447Lys)
|
rs80357067
|
0.00001
|
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
|
NM_007294.4(BRCA1):c.4357+14G>T
|
rs760989937
|
0.00001
|
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
|
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala)
|
rs587782606
|
0.00001
|
|
NM_007294.4(BRCA1):c.4380T>C (p.Ser1460=)
|
rs786203100
|
0.00001
|
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
|
NM_007294.4(BRCA1):c.4427A>C (p.Lys1476Thr)
|
rs750437234
|
0.00001
|
|
NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys)
|
rs80357148
|
0.00001
|
|
NM_007294.4(BRCA1):c.4484+6A>C
|
rs879255297
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-10A>G
|
rs863224420
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
0.00001
|
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
|
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro)
|
rs80357275
|
0.00001
|
|
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)
|
rs80357095
|
0.00001
|
|
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)
|
rs80357366
|
0.00001
|
|
NM_007294.4(BRCA1):c.4635C>T (p.His1545=)
|
rs373686790
|
0.00001
|
|
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met)
|
rs273900737
|
0.00001
|
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
|
NM_007294.4(BRCA1):c.465A>T (p.Gln155His)
|
rs864622260
|
0.00001
|
|
NM_007294.4(BRCA1):c.4675+20A>G
|
rs780870669
|
0.00001
|
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
|
NM_007294.4(BRCA1):c.4676-16C>G
|
rs80358067
|
0.00001
|
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
|
NM_007294.4(BRCA1):c.470C>G (p.Ser157Cys)
|
rs80357045
|
0.00001
|
|
NM_007294.4(BRCA1):c.4710C>T (p.Leu1570=)
|
rs786201839
|
0.00001
|
|
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr)
|
rs273901741
|
0.00001
|
|
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)
|
rs80357002
|
0.00001
|
|
NM_007294.4(BRCA1):c.4767T>G (p.Arg1589=)
|
rs587780864
|
0.00001
|
|
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys)
|
rs761925468
|
0.00001
|
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
|
NM_007294.4(BRCA1):c.4845T>C (p.Ala1615=)
|
rs144588397
|
0.00001
|
|
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu)
|
rs55816927
|
0.00001
|
|
NM_007294.4(BRCA1):c.4858A>G (p.Thr1620Ala)
|
rs8176219
|
0.00001
|
|
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr)
|
rs1369043501
|
0.00001
|
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
|
NM_007294.4(BRCA1):c.4914A>G (p.Glu1638=)
|
rs786201216
|
0.00001
|
|
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser)
|
rs28897695
|
0.00001
|
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
|
NM_007294.4(BRCA1):c.4987-11T>C
|
rs80358170
|
0.00001
|
|
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
|
rs786203868
|
0.00001
|
|
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)
|
rs80357061
|
0.00001
|
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
|
NM_007294.4(BRCA1):c.5075-18G>A
|
rs1060504564
|
0.00001
|
|
NM_007294.4(BRCA1):c.5075-9A>T
|
rs80358059
|
0.00001
|
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
|
NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met)
|
rs910555398
|
0.00001
|
|
NM_007294.4(BRCA1):c.5124G>A (p.Ala1708=)
|
rs1057520432
|
0.00001
|
|
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)
|
rs80357418
|
0.00001
|
|
NM_007294.4(BRCA1):c.514del (p.Gln172fs)
|
rs80357872
|
0.00001
|
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
|
NM_007294.4(BRCA1):c.5153-3T>C
|
rs375639469
|
0.00001
|
|
NM_007294.4(BRCA1):c.5194-16G>A
|
rs368058346
|
0.00001
|
|
NM_007294.4(BRCA1):c.5278-1G>C
|
rs80358099
|
0.00001
|
|
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser)
|
rs80357324
|
0.00001
|
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
|
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)
|
rs398122695
|
0.00001
|
|
NM_007294.4(BRCA1):c.5332+15G>C
|
rs80358148
|
0.00001
|
|
NM_007294.4(BRCA1):c.5332+7G>T
|
rs773655919
|
0.00001
|
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
|
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)
|
rs80357474
|
0.00001
|
|
NM_007294.4(BRCA1):c.5349G>A (p.Met1783Ile)
|
rs587782019
|
0.00001
|
|
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
|
rs80357069
|
0.00001
|
|
NM_007294.4(BRCA1):c.5406+17C>T
|
rs1057522773
|
0.00001
|
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
|
NM_007294.4(BRCA1):c.5408G>A (p.Gly1803Asp)
|
rs80357149
|
0.00001
|
|
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)
|
rs730881456
|
0.00001
|
|
NM_007294.4(BRCA1):c.5415C>T (p.His1805=)
|
rs1060504559
|
0.00001
|
|
NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala)
|
rs80357241
|
0.00001
|
|
NM_007294.4(BRCA1):c.5439T>C (p.Asp1813=)
|
rs760396669
|
0.00001
|
|
NM_007294.4(BRCA1):c.543A>G (p.Glu181=)
|
rs397507250
|
0.00001
|
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
|
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
|
rs80357286
|
0.00001
|
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
|
NM_007294.4(BRCA1):c.547+8T>G
|
rs762224894
|
0.00001
|
|
NM_007294.4(BRCA1):c.548-18T>G
|
rs397507251
|
0.00001
|
|
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)
|
rs730881500
|
0.00001
|
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
|
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)
|
rs273902776
|
0.00001
|
|
NM_007294.4(BRCA1):c.5514G>T (p.Val1838=)
|
rs786201248
|
0.00001
|
|
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=)
|
rs786201502
|
0.00001
|
|
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)
|
rs80357629
|
0.00001
|
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
|
NM_007294.4(BRCA1):c.5586C>T (p.His1862=)
|
rs774127304
|
0.00001
|
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
|
NM_007294.4(BRCA1):c.671-15T>A
|
rs80358058
|
0.00001
|
|
NM_007294.4(BRCA1):c.699A>G (p.Val233=)
|
rs786202162
|
0.00001
|
|
NM_007294.4(BRCA1):c.6T>C (p.Asp2=)
|
rs754763517
|
0.00001
|
|
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys)
|
rs1555593290
|
0.00001
|
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
|
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)
|
rs80356865
|
0.00001
|
|
NM_007294.4(BRCA1):c.768G>A (p.Arg256=)
|
rs746067447
|
0.00001
|
|
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp)
|
rs397509319
|
0.00001
|
|
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)
|
rs80357707
|
0.00001
|
|
NM_007294.4(BRCA1):c.80+7C>T
|
rs80358098
|
0.00001
|
|
NM_007294.4(BRCA1):c.804C>T (p.Asn268=)
|
rs771076131
|
0.00001
|
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
|
NM_007294.4(BRCA1):c.825C>T (p.Gly275=)
|
rs397509328
|
0.00001
|
|
NM_007294.4(BRCA1):c.837T>C (p.His279=)
|
rs775477245
|
0.00001
|
|
NM_007294.4(BRCA1):c.879T>G (p.Thr293=)
|
rs139433219
|
0.00001
|
|
NM_007294.4(BRCA1):c.93C>G (p.Ile31Met)
|
rs80357000
|
0.00001
|
|
NM_007294.4(BRCA1):c.975G>A (p.Lys325=)
|
rs786201624
|
0.00001
|
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
|
NM_007294.4(BRCA1):c.996G>T (p.Arg332=)
|
rs80356836
|
0.00001
|
|
NM_007327.4(GRIN1):c.2170A>T (p.Asn724Tyr)
|
rs766459225
|
0.00001
|
|
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)
|
rs2064899680
|
0.00001
|
|
NM_007373.4(SHOC2):c.109G>C (p.Glu37Gln)
|
rs1170704957
|
0.00001
|
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
|
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu)
|
rs1025884753
|
0.00001
|
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00001
|
|
NM_012233.3(RAB3GAP1):c.1471C>T (p.Arg491Ter)
|
rs752667359
|
0.00001
|
|
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)
|
rs753997682
|
0.00001
|
|
NM_012388.4(BLOC1S6):c.313-9C>T
|
rs765107661
|
0.00001
|
|
NM_012388.4(BLOC1S6):c.335dup (p.His112fs)
|
rs762974622
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
|
NM_012452.3(TNFRSF13B):c.11T>C (p.Leu4Pro)
|
rs2087749301
|
0.00001
|
|
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)
|
rs374873455
|
0.00001
|
|
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu)
|
rs750788949
|
0.00001
|
|
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His)
|
rs1295585374
|
0.00001
|
|
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)
|
rs764356904
|
0.00001
|
|
NM_013275.6(ANKRD11):c.5823C>T (p.Ala1941=)
|
rs775856441
|
0.00001
|
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
|
NM_013382.7(POMT2):c.1699C>T (p.Pro567Ser)
|
rs727502858
|
0.00001
|
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
|
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)
|
rs372939905
|
0.00001
|
|
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe)
|
rs373944477
|
0.00001
|
|
NM_013382.7(POMT2):c.275T>C (p.Met92Thr)
|
rs775489616
|
0.00001
|
|
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)
|
rs199719668
|
0.00001
|
|
NM_013975.4(LIG3):c.1193A>G (p.Gln398Arg)
|
rs781367751
|
0.00001
|
|
NM_013975.4(LIG3):c.1440T>C (p.Pro480=)
|
rs193922690
|
0.00001
|
|
NM_013975.4(LIG3):c.1555A>G (p.Asn519Asp)
|
rs763624496
|
0.00001
|
|
NM_013975.4(LIG3):c.2211G>A (p.Thr737=)
|
rs368207452
|
0.00001
|
|
NM_014000.3(VCL):c.1292T>G (p.Ile431Ser)
|
rs766192312
|
0.00001
|
|
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)
|
rs397517236
|
0.00001
|
|
NM_014000.3(VCL):c.238A>C (p.Lys80Gln)
|
rs775532257
|
0.00001
|
|
NM_014000.3(VCL):c.2924G>A (p.Arg975Gln)
|
rs767325003
|
0.00001
|
|
NM_014000.3(VCL):c.3019G>C (p.Gly1007Arg)
|
rs1554819630
|
0.00001
|
|
NM_014000.3(VCL):c.625A>T (p.Met209Leu)
|
rs144683137
|
0.00001
|
|
NM_014000.3(VCL):c.874+13T>C
|
rs777617736
|
0.00001
|
|
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys)
|
rs781881326
|
0.00001
|
|
NM_014028.4(OSTM1):c.56C>T (p.Pro19Leu)
|
rs762141251
|
0.00001
|
|
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)
|
rs377022708
|
0.00001
|
|
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)
|
rs750899715
|
0.00001
|
|
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)
|
rs762521317
|
0.00001
|
|
NM_014225.6(PPP2R1A):c.78+7A>C
|
rs1240197556
|
0.00001
|
|
NM_014233.4(UBTF):c.497A>G (p.Gln166Arg)
|
rs1426632040
|
0.00001
|
|
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)
|
rs121434440
|
0.00001
|
|
NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys)
|
rs1442079596
|
0.00001
|
|
NM_014239.4(EIF2B2):c.285-1G>A
|
rs373906805
|
0.00001
|
|
NM_014239.4(EIF2B2):c.910G>T (p.Glu304Ter)
|
rs113994018
|
0.00001
|
|
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)
|
rs372548739
|
0.00001
|
|
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)
|
rs104894426
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)
|
rs398122839
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
|
rs80338725
|
0.00001
|
|
NM_014254.3(RXYLT1):c.325+1G>T
|
rs1592838547
|
0.00001
|
|
NM_014297.5(ETHE1):c.112T>G (p.Tyr38Asp)
|
rs1442758927
|
0.00001
|
|
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)
|
rs368778231
|
0.00001
|
|
NM_014297.5(ETHE1):c.505+1G>A
|
rs935855792
|
0.00001
|
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
|
NM_014363.6(SACS):c.7187C>G (p.Thr2396Ser)
|
rs1303289497
|
0.00001
|
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
|
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
0.00001
|
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
|
NM_014391.3(ANKRD1):c.193C>A (p.Gln65Lys)
|
rs139169078
|
0.00001
|
|
NM_014585.6(SLC40A1):c.887G>A (p.Arg296Gln)
|
rs772246537
|
0.00001
|
|
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)
|
rs74315343
|
0.00001
|
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
|
NM_014625.4(NPHS2):c.535-1G>T
|
rs1291398331
|
0.00001
|
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
|
NM_014625.4(NPHS2):c.873+2T>A
|
rs967339926
|
0.00001
|
|
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp)
|
rs769075304
|
0.00001
|
|
NM_014639.4(SKIC3):c.3646G>A (p.Val1216Ile)
|
rs555525541
|
0.00001
|
|
NM_014697.3(NOS1AP):c.1205C>T (p.Pro402Leu)
|
rs1249679104
|
0.00001
|
|
NM_014697.3(NOS1AP):c.1275G>A (p.Leu425=)
|
rs879200476
|
0.00001
|
|
NM_014697.3(NOS1AP):c.300G>A (p.Thr100=)
|
rs578153577
|
0.00001
|
|
NM_014697.3(NOS1AP):c.528G>A (p.Thr176=)
|
rs769901011
|
0.00001
|
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
0.00001
|
|
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
|
NM_014780.5(CUL7):c.3000G>A (p.Met1000Ile)
|
rs1239557315
|
0.00001
|
|
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter)
|
rs748555538
|
0.00001
|
|
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)
|
rs121918229
|
0.00001
|
|
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro)
|
rs759300846
|
0.00001
|
|
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)
|
rs387907106
|
0.00001
|
|
NM_014797.3(ZBTB24):c.1614G>C (p.Gln538His)
|
rs778764491
|
0.00001
|
|
NM_014797.3(ZBTB24):c.569A>G (p.Asn190Ser)
|
rs542752221
|
0.00001
|
|
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met)
|
rs752912949
|
0.00001
|
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
|
NM_014845.6(FIG4):c.497+14T>G
|
rs756070677
|
0.00001
|
|
NM_014874.4(MFN2):c.2204+10G>T
|
rs1445631790
|
0.00001
|
|
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)
|
rs774318019
|
0.00001
|
|
NM_014875.3(KIF14):c.3248C>T (p.Thr1083Ile)
|
rs766057394
|
0.00001
|
|
NM_014875.3(KIF14):c.88C>T (p.Leu30Phe)
|
rs936413897
|
0.00001
|
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
|
NM_015021.3(ZNF292):c.3767A>T (p.Asp1256Val)
|
rs753893386
|
0.00001
|
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
|
NM_015107.3(PHF8):c.257C>T (p.Thr86Met)
|
rs782156466
|
0.00001
|
|
NM_015141.4(GPD1L):c.293A>C (p.Gln98Pro)
|
rs745770005
|
0.00001
|
|
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)
|
rs281875309
|
0.00001
|
|
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)
|
rs1289520784
|
0.00001
|
|
NM_015166.4(MLC1):c.251G>A (p.Arg84His)
|
rs1425784992
|
0.00001
|
|
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
|
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu)
|
rs749279630
|
0.00001
|
|
NM_015267.4(CUX2):c.2708G>A (p.Arg903His)
|
rs1376326529
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
|
NM_015295.3(SMCHD1):c.1326T>G (p.Asp442Glu)
|
rs199596161
|
0.00001
|
|
NM_015311.3(OBSL1):c.5590dup (p.Ser1864fs)
|
rs750568728
|
0.00001
|
|
NM_015330.6(SPECC1L):c.1382G>A (p.Arg461Gln)
|
rs1169891186
|
0.00001
|
|
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln)
|
rs977444793
|
0.00001
|
|
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe)
|
rs1876518341
|
0.00001
|
|
NM_015404.4(WHRN):c.2542-1G>A
|
rs1250528376
|
0.00001
|
|
NM_015443.4(KANSL1):c.2203+18G>A
|
rs764721407
|
0.00001
|
|
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser)
|
rs376707680
|
0.00001
|
|
NM_015465.5(GEMIN5):c.2768A>C (p.His923Pro)
|
rs1763488906
|
0.00001
|
|
NM_015488.5(PNKD):c.1074G>A (p.Pro358=)
|
rs148953301
|
0.00001
|
|
NM_015488.5(PNKD):c.551T>C (p.Leu184Pro)
|
rs1243303171
|
0.00001
|
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
|
NM_015559.3(SETBP1):c.4724del (p.Gln1575fs)
|
rs746925505
|
0.00001
|
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
|
NM_015627.3(LDLRAP1):c.223G>A (p.Val75Met)
|
rs767491845
|
0.00001
|
|
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met)
|
rs780582666
|
0.00001
|
|
NM_015627.3(LDLRAP1):c.533-7C>A
|
rs990692653
|
0.00001
|
|
NM_015627.3(LDLRAP1):c.774G>T (p.Ala258=)
|
rs755499671
|
0.00001
|
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
|
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)
|
rs754078574
|
0.00001
|
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
|
NM_015681.6(B9D1):c.236C>T (p.Pro79Leu)
|
rs919713893
|
0.00001
|
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
|
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)
|
rs886038205
|
0.00001
|
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
|
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter)
|
rs376113678
|
0.00001
|
|
NM_015909.4(NBAS):c.2990A>C (p.Glu997Ala)
|
rs538592084
|
0.00001
|
|
NM_015909.4(NBAS):c.335+4A>G
|
rs1352462112
|
0.00001
|
|
NM_015909.4(NBAS):c.3838C>T (p.Arg1280Trp)
|
rs368280415
|
0.00001
|
|
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val)
|
rs745940158
|
0.00001
|
|
NM_015909.4(NBAS):c.680A>C (p.His227Pro)
|
rs748880753
|
0.00001
|
|
NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter)
|
rs778338208
|
0.00001
|
|
NM_016038.4(SBDS):c.13del (p.Thr5fs)
|
rs772797192
|
0.00001
|
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
|
NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro)
|
rs759043037
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1234-7C>T
|
rs1456377814
|
0.00001
|
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+19T>C
|
rs376621063
|
0.00001
|
|
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=)
|
rs756215060
|
0.00001
|
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
|
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln)
|
rs760980785
|
0.00001
|
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
|
NM_016302.4(CRBN):c.1117C>T (p.Arg373Trp)
|
rs775940573
|
0.00001
|
|
NM_016335.6(PRODH):c.1615+1G>C
|
rs745902339
|
0.00001
|
|
NM_016343.4(CENPF):c.117T>G (p.Phe39Leu)
|
rs746591240
|
0.00001
|
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
|
NM_016529.6(ATP8A2):c.1295C>T (p.Thr432Met)
|
rs745650033
|
0.00001
|
|
NM_016599.5(MYOZ2):c.75T>C (p.Asn25=)
|
rs201476980
|
0.00001
|
|
NM_016630.7(SPG21):c.601dup (p.Thr201fs)
|
rs387906275
|
0.00001
|
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
|
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=)
|
rs766494495
|
0.00001
|
|
NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)
|
rs776319665
|
0.00001
|
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
|
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln)
|
rs199469643
|
0.00001
|
|
NM_017534.6(MYH2):c.3263+10A>T
|
rs771160529
|
0.00001
|
|
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg)
|
rs749110767
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser)
|
rs761072761
|
0.00001
|
|
NM_017617.5(NOTCH1):c.27C>G (p.Leu9=)
|
rs1422526202
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=)
|
rs764208271
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn)
|
rs375931404
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3643+9C>T
|
rs764985096
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=)
|
rs775448292
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4014+8C>G
|
rs748956877
|
0.00001
|
|
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=)
|
rs757406877
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=)
|
rs765751888
|
0.00001
|
|
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=)
|
rs368733465
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=)
|
rs575575412
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
|
NM_017636.4(TRPM4):c.1795A>G (p.Met599Val)
|
rs139753455
|
0.00001
|
|
NM_017668.3(NDE1):c.948-3365C>T
|
rs374628714
|
0.00001
|
|
NM_017668.3(NDE1):c.948-5748G>A
|
rs574893374
|
0.00001
|
|
NM_017668.3(NDE1):c.984A>G (p.Thr328=)
|
rs2040630480
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
|
NM_017755.6(NSUN2):c.1103C>T (p.Thr368Met)
|
rs200705396
|
0.00001
|
|
NM_017757.3(ZNF407):c.3773G>A (p.Arg1258His)
|
rs747340041
|
0.00001
|
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
|
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met)
|
rs1287878235
|
0.00001
|
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
|
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)
|
rs1381427322
|
0.00001
|
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
|
NM_017952.6(PTCD3):c.719C>G (p.Ala240Gly)
|
rs760231243
|
0.00001
|
|
NM_018006.5(TRMU):c.2T>G (p.Met1Arg)
|
rs118203992
|
0.00001
|
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
|
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)
|
rs773768206
|
0.00001
|
|
NM_018100.4(EFHC1):c.139A>G (p.Ile47Val)
|
rs1764249771
|
0.00001
|
|
NM_018112.3(TMEM38B):c.-10G>A
|
rs757700902
|
0.00001
|
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
|
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)
|
rs549477447
|
0.00001
|
|
NM_018129.4(PNPO):c.284G>A (p.Arg95His)
|
rs552833222
|
0.00001
|
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
|
NM_018196.4(TMLHE):c.113C>T (p.Ala38Val)
|
rs781834884
|
0.00001
|
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
|
NM_018297.4(NGLY1):c.1A>G (p.Met1Val)
|
rs772627507
|
0.00001
|
|
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)
|
rs201791209
|
0.00001
|
|
NM_018341.3(ERMARD):c.1607T>C (p.Leu536Pro)
|
rs1562350675
|
0.00001
|
|
NM_018367.7(ACER3):c.475C>T (p.Arg159Ter)
|
rs782329790
|
0.00001
|
|
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)
|
rs75895925
|
0.00001
|
|
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)
|
rs2077134911
|
0.00001
|
|
NM_018418.5(SPATA7):c.620T>A (p.Phe207Tyr)
|
rs1177680731
|
0.00001
|
|
NM_018838.5(NDUFA12):c.260A>G (p.His87Arg)
|
rs781198263
|
0.00001
|
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
|
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)
|
rs188259026
|
0.00001
|
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
|
NM_019014.6(POLR1B):c.1976A>G (p.Gln659Arg)
|
rs1476199084
|
0.00001
|
|
NM_019066.5(MAGEL2):c.3115G>A (p.Val1039Met)
|
rs1431980186
|
0.00001
|
|
NM_019066.5(MAGEL2):c.3526G>A (p.Glu1176Lys)
|
rs1890340333
|
0.00001
|
|
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg)
|
rs748354081
|
0.00001
|
|
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro)
|
rs752920111
|
0.00001
|
|
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)
|
rs778368053
|
0.00001
|
|
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)
|
rs16835020
|
0.00001
|
|
NM_019109.5(ALG1):c.1359G>C (p.Trp453Cys)
|
rs775918513
|
0.00001
|
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
|
NM_019109.5(ALG1):c.901+1G>A
|
rs1227251669
|
0.00001
|
|
NM_019842.4(KCNQ5):c.2444T>C (p.Leu815Pro)
|
rs1204507146
|
0.00001
|
|
NM_019844.4(SLCO1B3):c.1747+1G>A
|
rs373707046
|
0.00001
|
|
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys)
|
rs1024279229
|
0.00001
|
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
|
NM_019892.6(INPP5E):c.907G>A (p.Val303Met)
|
rs746212325
|
0.00001
|
|
NM_020117.11(LARS1):c.3286A>G (p.Ile1096Val)
|
rs373129039
|
0.00001
|
|
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
|
rs1333357031
|
0.00001
|
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
|
NM_020297.4(ABCC9):c.1050C>T (p.Asn350=)
|
rs143373045
|
0.00001
|
|
NM_020297.4(ABCC9):c.1194C>T (p.Leu398=)
|
rs1430745818
|
0.00001
|
|
NM_020297.4(ABCC9):c.1770G>A (p.Thr590=)
|
rs746239063
|
0.00001
|
|
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter)
|
rs1024095026
|
0.00001
|
|
NM_020297.4(ABCC9):c.3669+1G>C
|
rs950805207
|
0.00001
|
|
NM_020297.4(ABCC9):c.3772-10C>T
|
rs1315658031
|
0.00001
|
|
NM_020297.4(ABCC9):c.4094T>C (p.Ile1365Thr)
|
rs1328493674
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)
|
rs777591544
|
0.00001
|
|
NM_020297.4(ABCC9):c.957T>C (p.Ser319=)
|
rs768245158
|
0.00001
|
|
NM_020320.5(RARS2):c.1024A>G (p.Met342Val)
|
rs387907048
|
0.00001
|
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
|
NM_020320.5(RARS2):c.1650+5G>A
|
rs750433723
|
0.00001
|
|
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)
|
rs1258569046
|
0.00001
|
|
NM_020338.4(ZMIZ1):c.595C>G (p.Pro199Ala)
|
rs1226022539
|
0.00001
|
|
NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met)
|
rs538917969
|
0.00001
|
|
NM_020365.5(EIF2B3):c.935G>A (p.Arg312Gln)
|
rs776505832
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val)
|
rs1325466987
|
0.00001
|
|
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs)
|
rs796065308
|
0.00001
|
|
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)
|
rs908189174
|
0.00001
|
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
|
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)
|
rs587776972
|
0.00001
|
|
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr)
|
rs202044972
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
|
rs121908374
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser)
|
rs797044818
|
0.00001
|
|
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)
|
rs767122713
|
0.00001
|
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
|
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)
|
rs369251527
|
0.00001
|
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
|
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)
|
rs1384661323
|
0.00001
|
|
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)
|
rs769164245
|
0.00001
|
|
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)
|
rs193922704
|
0.00001
|
|
NM_020686.6(ABAT):c.541-10A>G
|
rs771274045
|
0.00001
|
|
NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)
|
rs1428157543
|
0.00001
|
|
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys)
|
rs587777592
|
0.00001
|
|
NM_020778.5(ALPK3):c.24C>T (p.Ser8=)
|
rs1301150493
|
0.00001
|
|
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter)
|
rs1344615174
|
0.00001
|
|
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter)
|
rs1241223548
|
0.00001
|
|
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile)
|
rs1216283172
|
0.00001
|
|
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
|
rs771889785
|
0.00001
|
|
NM_020919.4(ALS2):c.1032A>G (p.Ala344=)
|
rs1002785073
|
0.00001
|
|
NM_020919.4(ALS2):c.329G>T (p.Gly110Val)
|
rs758017229
|
0.00001
|
|
NM_020928.2(ZSWIM6):c.2281C>T (p.Arg761Trp)
|
rs756935198
|
0.00001
|
|
NM_020944.3(GBA2):c.1582+2T>G
|
rs941656065
|
0.00001
|
|
NM_020964.3(EPG5):c.1A>G (p.Met1Val)
|
rs1135402732
|
0.00001
|
|
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter)
|
rs374321183
|
0.00001
|
|
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr)
|
rs1387494484
|
0.00001
|
|
NM_020975.6(RET):c.1352C>T (p.Thr451Met)
|
rs774092678
|
0.00001
|
|
NM_020975.6(RET):c.1386G>A (p.Ser462=)
|
rs587780807
|
0.00001
|
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
|
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
|
rs193922700
|
0.00001
|
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
|
NM_020975.6(RET):c.2607+5G>A
|
rs143862573
|
0.00001
|
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
|
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala)
|
rs375050420
|
0.00001
|
|
NM_021008.4(DEAF1):c.1294A>C (p.Thr432Pro)
|
rs1352647775
|
0.00001
|
|
NM_021072.4(HCN1):c.168C>T (p.Ser56=)
|
rs996210990
|
0.00001
|
|
NM_021098.3(CACNA1H):c.4476+16G>A
|
rs746670693
|
0.00001
|
|
NM_021120.4(DLG3):c.358-11T>C
|
rs1272977200
|
0.00001
|
|
NM_021625.5(TRPV4):c.2336+1G>A
|
rs771778984
|
0.00001
|
|
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)
|
rs1311967606
|
0.00001
|
|
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)
|
rs370031870
|
0.00001
|
|
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)
|
rs267606682
|
0.00001
|
|
NM_021830.5(TWNK):c.1429C>T (p.Arg477Cys)
|
rs760427334
|
0.00001
|
|
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)
|
rs369588002
|
0.00001
|
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
|
NM_021870.3(FGG):c.677G>T (p.Gly226Val)
|
rs1310452604
|
0.00001
|
|
NM_021871.4(FGA):c.104G>A (p.Arg35His)
|
rs121909607
|
0.00001
|
|
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)
|
rs387906960
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2976G>A (p.Met992Ile)
|
rs1363823033
|
0.00001
|
|
NM_022081.6(HPS4):c.469T>C (p.Phe157Leu)
|
rs753375046
|
0.00001
|
|
NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu)
|
rs369624816
|
0.00001
|
|
NM_022114.4(PRDM16):c.658G>T (p.Val220Leu)
|
rs746597198
|
0.00001
|
|
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu)
|
rs397517308
|
0.00001
|
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
|
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met)
|
rs765270590
|
0.00001
|
|
NM_022124.6(CDH23):c.3038G>A (p.Arg1013Gln)
|
rs767888617
|
0.00001
|
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
|
NM_022124.6(CDH23):c.5536G>A (p.Asp1846Asn)
|
rs746323558
|
0.00001
|
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
|
NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys)
|
rs762925264
|
0.00001
|
|
NM_022124.6(CDH23):c.8005A>G (p.Ile2669Val)
|
rs1841701549
|
0.00001
|
|
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp)
|
rs397517364
|
0.00001
|
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
|
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)
|
rs368603948
|
0.00001
|
|
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)
|
rs765438239
|
0.00001
|
|
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe)
|
rs398124371
|
0.00001
|
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
|
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln)
|
rs367851471
|
0.00001
|
|
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn)
|
rs1442046271
|
0.00001
|
|
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn)
|
rs375176399
|
0.00001
|
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
|
NM_022437.3(ABCG8):c.12G>A (p.Lys4=)
|
rs1226302403
|
0.00001
|
|
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp)
|
rs775957691
|
0.00001
|
|
NM_022489.4(INF2):c.700C>T (p.Arg234Ter)
|
rs750014286
|
0.00001
|
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
|
NM_022725.4(FANCF):c.904G>A (p.Val302Met)
|
rs1196670435
|
0.00001
|
|
NM_022726.4(ELOVL4):c.370A>G (p.Ile124Val)
|
rs192103032
|
0.00001
|
|
NM_022770.4(GINS3):c.242G>A (p.Arg81Gln)
|
rs765540461
|
0.00001
|
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
|
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn)
|
rs1586379709
|
0.00001
|
|
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg)
|
rs377095724
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.285T>A (p.Asp95Glu)
|
rs781759926
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)
|
rs368690277
|
0.00001
|
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
|
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)
|
rs886044183
|
0.00001
|
|
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)
|
rs387907040
|
0.00001
|
|
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)
|
rs775750642
|
0.00001
|
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
|
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)
|
rs387907039
|
0.00001
|
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
|
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)
|
rs373010581
|
0.00001
|
|
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)
|
rs200646278
|
0.00001
|
|
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser)
|
rs137853822
|
0.00001
|
|
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=)
|
rs139215843
|
0.00001
|
|
NM_024312.5(GNPTAB):c.2715+1G>A
|
rs281865031
|
0.00001
|
|
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)
|
rs769587233
|
0.00001
|
|
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)
|
rs281865009
|
0.00001
|
|
NM_024312.5(GNPTAB):c.3314A>G (p.Tyr1105Cys)
|
rs775751653
|
0.00001
|
|
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)
|
rs142065232
|
0.00001
|
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
|
NM_024312.5(GNPTAB):c.3694-1G>A
|
rs1297022622
|
0.00001
|
|
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly)
|
rs137853824
|
0.00001
|
|
NM_024334.3(TMEM43):c.1000+2T>C
|
rs748618994
|
0.00001
|
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
|
NM_024334.3(TMEM43):c.873C>T (p.Phe291=)
|
rs1452047536
|
0.00001
|
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
|
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys)
|
rs11551664
|
0.00001
|
|
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)
|
rs552179138
|
0.00001
|
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
|
NM_024422.6(DSC2):c.1347A>G (p.Pro449=)
|
rs1157738158
|
0.00001
|
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
|
NM_024422.6(DSC2):c.2379C>A (p.Thr793=)
|
rs773813155
|
0.00001
|
|
NM_024422.6(DSC2):c.2691A>G (p.Ala897=)
|
rs555492553
|
0.00001
|
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
|
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser)
|
rs1478081073
|
0.00001
|
|
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
|
rs749063028
|
0.00001
|
|
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala)
|
rs755298693
|
0.00001
|
|
NM_024496.4(IRF2BPL):c.631C>G (p.Leu211Val)
|
rs1480750400
|
0.00001
|
|
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys)
|
rs754070093
|
0.00001
|
|
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp)
|
rs566143026
|
0.00001
|
|
NM_024570.4(RNASEH2B):c.698+1G>A
|
rs367915667
|
0.00001
|
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
|
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)
|
rs1248359114
|
0.00001
|
|
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter)
|
rs387907146
|
0.00001
|
|
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser)
|
rs759275651
|
0.00001
|
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
|
NM_024649.5(BBS1):c.851del (p.Tyr284fs)
|
rs587777830
|
0.00001
|
|
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln)
|
rs372092113
|
0.00001
|
|
NM_024649.5(BBS1):c.952-20C>T
|
rs1189838889
|
0.00001
|
|
NM_024675.4(PALB2):c.1006A>C (p.Asn336His)
|
rs1060502774
|
0.00001
|
|
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu)
|
rs1202130508
|
0.00001
|
|
NM_024675.4(PALB2):c.1119G>A (p.Glu373=)
|
rs45623436
|
0.00001
|
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
|
NM_024675.4(PALB2):c.1188C>T (p.Cys396=)
|
rs587780817
|
0.00001
|
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00001
|
|
NM_024675.4(PALB2):c.1361C>T (p.Ser454Phe)
|
rs587782842
|
0.00001
|
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
rs150636811
|
0.00001
|
|
NM_024675.4(PALB2):c.1446C>G (p.Leu482=)
|
rs368759893
|
0.00001
|
|
NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala)
|
rs878855101
|
0.00001
|
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
|
NM_024675.4(PALB2):c.1569A>G (p.Ala523=)
|
rs1200825980
|
0.00001
|
|
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly)
|
rs730881898
|
0.00001
|
|
NM_024675.4(PALB2):c.1659C>G (p.His553Gln)
|
rs370318597
|
0.00001
|
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
|
NM_024675.4(PALB2):c.1792C>T (p.Leu598=)
|
rs746702349
|
0.00001
|
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
|
NM_024675.4(PALB2):c.1923A>G (p.Lys641=)
|
rs775283927
|
0.00001
|
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
rs745467835
|
0.00001
|
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
|
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
|
rs199743500
|
0.00001
|
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
|
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly)
|
rs786202846
|
0.00001
|
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
|
NM_024675.4(PALB2):c.2428C>T (p.Pro810Ser)
|
rs759894786
|
0.00001
|
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
|
NM_024675.4(PALB2):c.2478C>T (p.Asn826=)
|
rs786201885
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+3dup
|
rs587781602
|
0.00001
|
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
|
NM_024675.4(PALB2):c.2624T>C (p.Met875Thr)
|
rs878855110
|
0.00001
|
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
|
NM_024675.4(PALB2):c.2673C>T (p.Cys891=)
|
rs78179744
|
0.00001
|
|
NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn)
|
rs180177123
|
0.00001
|
|
NM_024675.4(PALB2):c.2788A>T (p.Asn930Tyr)
|
rs1227325413
|
0.00001
|
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
|
NM_024675.4(PALB2):c.2881C>T (p.Leu961=)
|
rs61755166
|
0.00001
|
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
|
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)
|
rs1555459386
|
0.00001
|
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
|
NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser)
|
rs587780215
|
0.00001
|
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
rs876659587
|
0.00001
|
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
rs864622193
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
|
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)
|
rs587782050
|
0.00001
|
|
NM_024675.4(PALB2):c.351T>C (p.Pro117=)
|
rs763330757
|
0.00001
|
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
|
NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr)
|
rs180177139
|
0.00001
|
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
|
NM_024675.4(PALB2):c.372C>T (p.Thr124=)
|
rs786201904
|
0.00001
|
|
NM_024675.4(PALB2):c.405T>C (p.Pro135=)
|
rs786201586
|
0.00001
|
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
|
NM_024675.4(PALB2):c.48+10G>C
|
rs1311681895
|
0.00001
|
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
|
NM_024675.4(PALB2):c.660T>C (p.Ser220=)
|
rs571762192
|
0.00001
|
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
rs1327399690
|
0.00001
|
|
NM_024675.4(PALB2):c.704C>A (p.Thr235Lys)
|
rs1385914265
|
0.00001
|
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
|
NM_024675.4(PALB2):c.764A>G (p.Asp255Gly)
|
rs776753788
|
0.00001
|
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
rs786203246
|
0.00001
|
|
NM_024675.4(PALB2):c.831C>T (p.Asp277=)
|
rs62625273
|
0.00001
|
|
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)
|
rs761533286
|
0.00001
|
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
|
NM_024675.4(PALB2):c.878G>A (p.Gly293Asp)
|
rs876660398
|
0.00001
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
|
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg)
|
rs755129205
|
0.00001
|
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
|
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)
|
rs1356713858
|
0.00001
|
|
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
|
rs767638924
|
0.00001
|
|
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)
|
rs1000990130
|
0.00001
|
|
NM_024747.6(HPS6):c.567T>G (p.Pro189=)
|
rs1015249401
|
0.00001
|
|
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg)
|
rs757416132
|
0.00001
|
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
|
NM_024884.3(L2HGDH):c.256+1G>A
|
rs150299874
|
0.00001
|
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
|
NM_025000.4(DCAF17):c.508C>G (p.Gln170Glu)
|
rs1694851443
|
0.00001
|
|
NM_025074.7(FRAS1):c.4011G>A (p.Met1337Ile)
|
rs1175649987
|
0.00001
|
|
NM_025074.7(FRAS1):c.5455A>G (p.Asn1819Asp)
|
rs753627771
|
0.00001
|
|
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)
|
rs1460031293
|
0.00001
|
|
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His)
|
rs541053205
|
0.00001
|
|
NM_025077.4(TOE1):c.-38G>C
|
rs774530388
|
0.00001
|
|
NM_025077.4(TOE1):c.6C>T (p.Ala2=)
|
rs876659248
|
0.00001
|
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
|
NM_025114.4(CEP290):c.1465C>A (p.Leu489Ile)
|
rs1231028240
|
0.00001
|
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
|
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu)
|
rs2038321332
|
0.00001
|
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
|
NM_025114.4(CEP290):c.5573C>G (p.Thr1858Ser)
|
rs761261059
|
0.00001
|
|
NM_025114.4(CEP290):c.5709+5G>A
|
rs2035845308
|
0.00001
|
|
NM_025114.4(CEP290):c.770A>G (p.Tyr257Cys)
|
rs367772168
|
0.00001
|
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
|
NM_025137.4(SPG11):c.1255A>G (p.Ser419Gly)
|
rs747719668
|
0.00001
|
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
|
NM_025137.4(SPG11):c.3039-5T>G
|
rs763224175
|
0.00001
|
|
NM_025137.4(SPG11):c.3291+3A>G
|
rs773192977
|
0.00001
|
|
NM_025215.6(PUS1):c.973G>A (p.Val325Met)
|
rs1156671661
|
0.00001
|
|
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu)
|
rs893127185
|
0.00001
|
|
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)
|
rs775380022
|
0.00001
|
|
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)
|
rs140709867
|
0.00001
|
|
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)
|
rs376815626
|
0.00001
|
|
NM_025265.4(TSEN2):c.1369C>T (p.Arg457Ter)
|
rs139032110
|
0.00001
|
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
|
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)
|
rs1487082103
|
0.00001
|
|
NM_030662.4(MAP2K2):c.1019C>T (p.Pro340Leu)
|
rs1277686711
|
0.00001
|
|
NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile)
|
rs1015139062
|
0.00001
|
|
NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=)
|
rs779378237
|
0.00001
|
|
NM_030662.4(MAP2K2):c.1092A>G (p.Thr364=)
|
rs779378237
|
0.00001
|
|
NM_030662.4(MAP2K2):c.1177G>A (p.Gly393Ser)
|
rs755887476
|
0.00001
|
|
NM_030662.4(MAP2K2):c.1195G>A (p.Ala399Thr)
|
rs1382101858
|
0.00001
|
|
NM_030662.4(MAP2K2):c.207C>T (p.Asp69=)
|
rs199850535
|
0.00001
|
|
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro)
|
rs758307267
|
0.00001
|
|
NM_030662.4(MAP2K2):c.357G>A (p.Leu119=)
|
rs1377039329
|
0.00001
|
|
NM_030662.4(MAP2K2):c.384G>A (p.Pro128=)
|
rs727503156
|
0.00001
|
|
NM_030662.4(MAP2K2):c.390C>T (p.Ile130=)
|
rs749956316
|
0.00001
|
|
NM_030662.4(MAP2K2):c.451-9G>A
|
rs765412949
|
0.00001
|
|
NM_030662.4(MAP2K2):c.528+17C>G
|
rs772831774
|
0.00001
|
|
NM_030662.4(MAP2K2):c.529-5T>C
|
rs766943752
|
0.00001
|
|
NM_030662.4(MAP2K2):c.531T>C (p.Val177=)
|
rs528169616
|
0.00001
|
|
NM_030662.4(MAP2K2):c.639C>T (p.Phe213=)
|
rs727504818
|
0.00001
|
|
NM_030662.4(MAP2K2):c.699C>T (p.Tyr233=)
|
rs1044588100
|
0.00001
|
|
NM_030662.4(MAP2K2):c.987A>G (p.Pro329=)
|
rs1173273857
|
0.00001
|
|
NM_030662.4(MAP2K2):c.990T>A (p.Pro330=)
|
rs1454910757
|
0.00001
|
|
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)
|
rs755654519
|
0.00001
|
|
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=)
|
rs558894862
|
0.00001
|
|
NM_030777.4(SLC2A10):c.598C>T (p.Pro200Ser)
|
rs764618846
|
0.00001
|
|
NM_030954.4(RNF170):c.640A>G (p.Ile214Val)
|
rs587780441
|
0.00001
|
|
NM_030962.4(SBF2):c.3653-1G>A
|
rs145183196
|
0.00001
|
|
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg)
|
rs1213960931
|
0.00001
|
|
NM_031206.7(LAS1L):c.7T>C (p.Trp3Arg)
|
rs754948682
|
0.00001
|
|
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)
|
rs515726205
|
0.00001
|
|
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe)
|
rs1204865094
|
0.00001
|
|
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met)
|
rs767660746
|
0.00001
|
|
NM_031844.3(HNRNPU):c.1875G>C (p.Gly625=)
|
rs774533310
|
0.00001
|
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
|
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
|
NM_032040.5(CCDC8):c.167C>T (p.Ala56Val)
|
rs567845896
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg)
|
rs373104267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly)
|
rs1555603565
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
|
NM_032043.3(BRIP1):c.1936-7A>T
|
rs1427111542
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr)
|
rs571340013
|
0.00001
|
|
NM_032043.3(BRIP1):c.1989C>A (p.Thr663=)
|
rs376628979
|
0.00001
|
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
|
NM_032043.3(BRIP1):c.225C>T (p.Gly75=)
|
rs186802750
|
0.00001
|
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
|
NM_032043.3(BRIP1):c.2370A>G (p.Lys790=)
|
rs372122365
|
0.00001
|
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
|
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=)
|
rs754927538
|
0.00001
|
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2576-7T>C
|
rs759408257
|
0.00001
|
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
|
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln)
|
rs876659099
|
0.00001
|
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
|
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)
|
rs786201919
|
0.00001
|
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
|
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile)
|
rs1060501762
|
0.00001
|
|
NM_032043.3(BRIP1):c.315A>G (p.Ser105=)
|
rs1555617827
|
0.00001
|
|
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile)
|
rs786204068
|
0.00001
|
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
|
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)
|
rs876658746
|
0.00001
|
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
|
NM_032043.3(BRIP1):c.357T>C (p.Asn119=)
|
rs786202477
|
0.00001
|
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
|
NM_032043.3(BRIP1):c.630C>G (p.Pro210=)
|
rs864622510
|
0.00001
|
|
NM_032043.3(BRIP1):c.684G>A (p.Glu228=)
|
rs876659909
|
0.00001
|
|
NM_032043.3(BRIP1):c.867C>T (p.Val289=)
|
rs147739458
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val)
|
rs369044000
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)
|
rs900228710
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
|
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp)
|
rs750334086
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8963C>T (p.Pro2988Leu)
|
rs1172291379
|
0.00001
|
|
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu)
|
rs766790920
|
0.00001
|
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
|
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)
|
rs121908316
|
0.00001
|
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
|
NM_032578.4(MYPN):c.1071T>C (p.Tyr357=)
|
rs1323471969
|
0.00001
|
|
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)
|
rs864622711
|
0.00001
|
|
NM_032581.4(HYCC1):c.51+1G>A
|
rs72549405
|
0.00001
|
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
|
NM_033028.5(BBS4):c.706T>C (p.Tyr236His)
|
rs746172575
|
0.00001
|
|
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)
|
rs202053471
|
0.00001
|
|
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=)
|
rs758879929
|
0.00001
|
|
NM_033337.3(CAV3):c.114+11C>T
|
rs779911803
|
0.00001
|
|
NM_033360.4(KRAS):c.*4+1G>A
|
rs780979221
|
0.00001
|
|
NM_033360.4(KRAS):c.491G>A (p.Arg164Gln)
|
rs758575947
|
0.00001
|
|
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala)
|
rs1569488381
|
0.00001
|
|
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala)
|
rs1252928330
|
0.00001
|
|
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile)
|
rs770158462
|
0.00001
|
|
NM_033629.6(TREX1):c.590C>T (p.Ala197Val)
|
rs201954133
|
0.00001
|
|
NM_033629.6(TREX1):c.95C>T (p.Thr32Met)
|
rs755138065
|
0.00001
|
|
NM_033641.4(COL4A6):c.4243G>A (p.Gly1415Ser)
|
rs750744219
|
0.00001
|
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
|
NM_052867.4(NALCN):c.3579C>T (p.Arg1193=)
|
rs1458379634
|
0.00001
|
|
NM_053025.4(MYLK):c.1315G>A (p.Gly439Arg)
|
rs190877071
|
0.00001
|
|
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser)
|
rs149802186
|
0.00001
|
|
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser)
|
rs1275836800
|
0.00001
|
|
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)
|
rs145191000
|
0.00001
|
|
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser)
|
rs568619953
|
0.00001
|
|
NM_053025.4(MYLK):c.2899G>A (p.Val967Met)
|
rs201711566
|
0.00001
|
|
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg)
|
rs148033472
|
0.00001
|
|
NM_053025.4(MYLK):c.3209A>G (p.Asp1070Gly)
|
rs751450529
|
0.00001
|
|
NM_053025.4(MYLK):c.3867C>T (p.Ser1289=)
|
rs561502268
|
0.00001
|
|
NM_053025.4(MYLK):c.3985+3G>A
|
rs2059656037
|
0.00001
|
|
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=)
|
rs565217509
|
0.00001
|
|
NM_053025.4(MYLK):c.4416-14C>T
|
rs1392123047
|
0.00001
|
|
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln)
|
rs757766496
|
0.00001
|
|
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=)
|
rs756699701
|
0.00001
|
|
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg)
|
rs532767014
|
0.00001
|
|
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)
|
rs201835018
|
0.00001
|
|
NM_054012.4(ASS1):c.-5-10C>G
|
rs375136377
|
0.00001
|
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
|
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)
|
rs121908644
|
0.00001
|
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
|
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)
|
rs936192871
|
0.00001
|
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
|
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)
|
rs1043964127
|
0.00001
|
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
|
NM_058216.3(RAD51C):c.1027-3C>T
|
rs587782459
|
0.00001
|
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
|
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)
|
rs373170458
|
0.00001
|
|
NM_058216.3(RAD51C):c.121G>A (p.Val41Met)
|
rs879254131
|
0.00001
|
|
NM_058216.3(RAD51C):c.128C>T (p.Pro43Leu)
|
rs766958594
|
0.00001
|
|
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)
|
rs568912602
|
0.00001
|
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
|
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)
|
rs786202890
|
0.00001
|
|
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)
|
rs1452865935
|
0.00001
|
|
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)
|
rs786203690
|
0.00001
|
|
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser)
|
rs1273995533
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
|
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)
|
rs587780254
|
0.00001
|
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
|
NM_058216.3(RAD51C):c.537C>T (p.His179=)
|
rs372385738
|
0.00001
|
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
|
NM_058216.3(RAD51C):c.73G>A (p.Val25Met)
|
rs757116652
|
0.00001
|
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
|
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu)
|
rs1555602145
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-1G>C
|
rs876658272
|
0.00001
|
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
|
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)
|
rs778412019
|
0.00001
|
|
NM_078470.6(COX15):c.430T>C (p.Phe144Leu)
|
rs767594997
|
0.00001
|
|
NM_080473.5(GATA5):c.1175G>A (p.Cys392Tyr)
|
rs782345116
|
0.00001
|
|
NM_080632.3(UPF3B):c.76G>A (p.Gly26Ser)
|
rs1050045607
|
0.00001
|
|
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys)
|
rs104893632
|
0.00001
|
|
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)
|
rs746579947
|
0.00001
|
|
NM_130837.3(OPA1):c.302G>A (p.Arg101His)
|
rs201856560
|
0.00001
|
|
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
|
rs143929819
|
0.00001
|
|
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
|
rs119466000
|
0.00001
|
|
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser)
|
rs747400412
|
0.00001
|
|
NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)
|
rs794726870
|
0.00001
|
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
|
NM_138422.4(ADAT3):c.806C>T (p.Pro269Leu)
|
rs748493151
|
0.00001
|
|
NM_138477.4(CDAN1):c.1867C>T (p.Arg623Trp)
|
rs141007889
|
0.00001
|
|
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)
|
rs747645756
|
0.00001
|
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
|
NM_138694.4(PKHD1):c.10132T>G (p.Trp3378Gly)
|
rs1784939891
|
0.00001
|
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
|
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)
|
rs199996156
|
0.00001
|
|
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)
|
rs140033417
|
0.00001
|
|
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)
|
rs137852947
|
0.00001
|
|
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)
|
rs778592523
|
0.00001
|
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
|
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro)
|
rs776157924
|
0.00001
|
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
0.00001
|
|
NM_138694.4(PKHD1):c.8642+1G>A
|
rs1485161784
|
0.00001
|
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
|
NM_138927.4(SON):c.3291T>C (p.Ser1097=)
|
rs781001098
|
0.00001
|
|
NM_138927.4(SON):c.3300C>G (p.Asp1100Glu)
|
rs1160761975
|
0.00001
|
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.1102_1104del (p.Lys368del)
|
rs878855206
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.1152A>C (p.Lys384Asn)
|
rs763567031
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.233G>A (p.Gly78Asp)
|
rs587780265
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.311G>A (p.Arg104His)
|
rs542570943
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.473A>T (p.Lys158Ile)
|
rs1445851548
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.54C>T (p.Leu18=)
|
rs769550002
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln)
|
rs138594808
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.601A>C (p.Lys201Gln)
|
rs901660662
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.658G>A (p.Ala220Thr)
|
rs748861737
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.777A>G (p.Gly259=)
|
rs1293484717
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.796+1G>A
|
rs1262378912
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.912A>T (p.Arg304Ser)
|
rs778300694
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.952G>A (p.Asp318Asn)
|
rs775345294
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.957A>G (p.Val319=)
|
rs746068286
|
0.00001
|
|
NM_139242.4(MTFMT):c.434T>G (p.Val145Gly)
|
rs1064793194
|
0.00001
|
|
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe)
|
rs769031989
|
0.00001
|
|
NM_139276.3(STAT3):c.1981G>T (p.Asp661Tyr)
|
rs747639500
|
0.00001
|
|
NM_139276.3(STAT3):c.368C>T (p.Ala123Val)
|
rs1475754644
|
0.00001
|
|
NM_139276.3(STAT3):c.372+10G>C
|
rs766222549
|
0.00001
|
|
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met)
|
rs756709134
|
0.00001
|
|
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)
|
rs876657929
|
0.00001
|
|
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
|
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro)
|
rs371576976
|
0.00001
|
|
NM_144670.6(A2ML1):c.1248+7A>G
|
rs765019682
|
0.00001
|
|
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln)
|
rs765417831
|
0.00001
|
|
NM_144670.6(A2ML1):c.1538-13T>A
|
rs765050311
|
0.00001
|
|
NM_144670.6(A2ML1):c.1683+6A>G
|
rs370846070
|
0.00001
|
|
NM_144670.6(A2ML1):c.1704C>G (p.Pro568=)
|
rs780752277
|
0.00001
|
|
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu)
|
rs187676229
|
0.00001
|
|
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys)
|
rs369633399
|
0.00001
|
|
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp)
|
rs778855832
|
0.00001
|
|
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe)
|
rs1435627448
|
0.00001
|
|
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=)
|
rs188045880
|
0.00001
|
|
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn)
|
rs754026014
|
0.00001
|
|
NM_144670.6(A2ML1):c.2712+12T>A
|
rs774960083
|
0.00001
|
|
NM_144670.6(A2ML1):c.3264+5G>A
|
rs200006435
|
0.00001
|
|
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met)
|
rs868320081
|
0.00001
|
|
NM_144670.6(A2ML1):c.3502+14G>C
|
rs1277207408
|
0.00001
|
|
NM_144670.6(A2ML1):c.3933+14C>T
|
rs200874703
|
0.00001
|
|
NM_144670.6(A2ML1):c.4221+17C>T
|
rs772852256
|
0.00001
|
|
NM_144670.6(A2ML1):c.4221+2T>C
|
rs959378735
|
0.00001
|
|
NM_144670.6(A2ML1):c.483+6C>T
|
rs754169968
|
0.00001
|
|
NM_144670.6(A2ML1):c.540T>G (p.Ile180Met)
|
rs377551636
|
0.00001
|
|
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu)
|
rs771087097
|
0.00001
|
|
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile)
|
rs1482427203
|
0.00001
|
|
NM_144670.6(A2ML1):c.906C>T (p.Asp302=)
|
rs1943356243
|
0.00001
|
|
NM_144670.6(A2ML1):c.970+13C>T
|
rs748203389
|
0.00001
|
|
NM_144997.7(FLCN):c.1390G>A (p.Glu464Lys)
|
rs1471793185
|
0.00001
|
|
NM_144997.7(FLCN):c.681G>A (p.Thr227=)
|
rs781035304
|
0.00001
|
|
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys)
|
rs752707110
|
0.00001
|
|
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)
|
rs387907128
|
0.00001
|
|
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val)
|
rs933392084
|
0.00001
|
|
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)
|
rs751780827
|
0.00001
|
|
NM_152328.5(ADSS1):c.502G>A (p.Gly168Arg)
|
rs1290246650
|
0.00001
|
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
|
NM_152384.3(BBS5):c.900G>C (p.Val300=)
|
rs757001492
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
|
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)
|
rs1563366896
|
0.00001
|
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
|
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)
|
rs368489658
|
0.00001
|
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.842-1G>A
|
rs764784497
|
0.00001
|
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
|
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=)
|
rs749745659
|
0.00001
|
|
NM_152594.3(SPRED1):c.15G>C (p.Thr5=)
|
rs1278027767
|
0.00001
|
|
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
|
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn)
|
rs373384814
|
0.00001
|
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
|
NM_152594.3(SPRED1):c.60G>C (p.Val20=)
|
rs367745143
|
0.00001
|
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
|
NM_152594.3(SPRED1):c.954A>G (p.Leu318=)
|
rs753357510
|
0.00001
|
|
NM_152594.3(SPRED1):c.990T>G (p.Gly330=)
|
rs1184835258
|
0.00001
|
|
NM_152722.5(HEPACAM):c.523A>T (p.Lys175Ter)
|
rs752637604
|
0.00001
|
|
NM_152906.7(TANGO2):c.711-11C>G
|
rs201850506
|
0.00001
|
|
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)
|
rs754476100
|
0.00001
|
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
|
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)
|
rs755094682
|
0.00001
|
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
|
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)
|
rs138630766
|
0.00001
|
|
NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val)
|
rs863224851
|
0.00001
|
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
|
NM_153700.2(STRC):c.4792C>G (p.Leu1598Val)
|
rs753942597
|
0.00001
|
|
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)
|
rs116647652
|
0.00001
|
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
0.00001
|
|
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)
|
rs750950408
|
0.00001
|
|
NM_153704.6(TMEM67):c.638G>A (p.Arg213His)
|
rs770605718
|
0.00001
|
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
|
NM_153717.3(EVC):c.1955G>A (p.Arg652His)
|
rs765024763
|
0.00001
|
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
|
NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly)
|
rs753949204
|
0.00001
|
|
NM_170606.3(KMT2C):c.10239C>G (p.Ile3413Met)
|
rs1422436901
|
0.00001
|
|
NM_170606.3(KMT2C):c.14101C>T (p.Leu4701Phe)
|
rs772587003
|
0.00001
|
|
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn)
|
rs781220804
|
0.00001
|
|
NM_170606.3(KMT2C):c.6115G>C (p.Gly2039Arg)
|
rs376573154
|
0.00001
|
|
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val)
|
rs587778510
|
0.00001
|
|
NM_170606.3(KMT2C):c.9041G>T (p.Gly3014Val)
|
rs2093213467
|
0.00001
|
|
NM_170707.4(LMNA):c.*722T>C
|
rs921268252
|
0.00001
|
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
|
NM_170707.4(LMNA):c.1680C>T (p.Asp560=)
|
rs17847249
|
0.00001
|
|
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys)
|
rs140455668
|
0.00001
|
|
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)
|
rs987157491
|
0.00001
|
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
|
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)
|
rs28937875
|
0.00001
|
|
NM_170784.3(MKKS):c.320A>G (p.Gln107Arg)
|
rs768772248
|
0.00001
|
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln)
|
rs1459078042
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp)
|
rs980128101
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys)
|
rs1264858438
|
0.00001
|
|
NM_172107.4(KCNQ2):c.822G>A (p.Thr274=)
|
rs377485599
|
0.00001
|
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
|
NM_172351.3(CD46):c.287-2A>G
|
rs759813089
|
0.00001
|
|
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)
|
rs137853289
|
0.00001
|
|
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)
|
rs199503269
|
0.00001
|
|
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys)
|
rs778915456
|
0.00001
|
|
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn)
|
rs538983393
|
0.00001
|
|
NM_173477.5(USH1G):c.1339C>T (p.Arg447Trp)
|
rs773872479
|
0.00001
|
|
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu)
|
rs760727576
|
0.00001
|
|
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)
|
rs769229606
|
0.00001
|
|
NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu)
|
rs749972738
|
0.00001
|
|
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)
|
rs768098854
|
0.00001
|
|
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)
|
rs118203937
|
0.00001
|
|
NM_173495.3(PTCHD1):c.583G>A (p.Val195Ile)
|
rs769407241
|
0.00001
|
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
|
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro)
|
rs553985062
|
0.00001
|
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
|
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)
|
rs1380661508
|
0.00001
|
|
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)
|
rs772294726
|
0.00001
|
|
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala)
|
rs756210130
|
0.00001
|
|
NM_174934.4(SCN4B):c.78C>T (p.Pro26=)
|
rs1326784999
|
0.00001
|
|
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)
|
rs371030381
|
0.00001
|
|
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val)
|
rs376066497
|
0.00001
|
|
NM_174936.4(PCSK9):c.1192A>G (p.Met398Val)
|
rs766010409
|
0.00001
|
|
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr)
|
rs537114569
|
0.00001
|
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
|
NM_174936.4(PCSK9):c.1560C>T (p.Val520=)
|
rs542863545
|
0.00001
|
|
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp)
|
rs533555352
|
0.00001
|
|
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys)
|
rs753505066
|
0.00001
|
|
NM_174936.4(PCSK9):c.812T>C (p.Ile271Thr)
|
rs753657596
|
0.00001
|
|
NM_174936.4(PCSK9):c.960C>T (p.Asp320=)
|
rs910368517
|
0.00001
|
|
NM_175914.5(HNF4A):c.49+13G>A
|
rs759324522
|
0.00001
|
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
|
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)
|
rs1290868034
|
0.00001
|
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
|
NM_176824.3(BBS7):c.277T>G (p.Phe93Val)
|
rs750813339
|
0.00001
|
|
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)
|
rs761403504
|
0.00001
|
|
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
|
rs727503821
|
0.00001
|
|
NM_181507.2(HPS5):c.131G>A (p.Arg44Gln)
|
rs760835753
|
0.00001
|
|
NM_181507.2(HPS5):c.1652G>A (p.Arg551His)
|
rs1037863397
|
0.00001
|
|
NM_181507.2(HPS5):c.2169A>G (p.Ile723Met)
|
rs780480120
|
0.00001
|
|
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile)
|
rs778443805
|
0.00001
|
|
NM_181789.4(GLDN):c.82G>C (p.Ala28Pro)
|
rs1016861963
|
0.00001
|
|
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)
|
rs137852854
|
0.00001
|
|
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)
|
rs137852845
|
0.00001
|
|
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)
|
rs755799430
|
0.00001
|
|
NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA (p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer)
|
rs746154279
|
0.00001
|
|
NM_182925.5(FLT4):c.3894-1G>A
|
rs1164783220
|
0.00001
|
|
NM_182931.3(KMT2E):c.1132C>T (p.Pro378Ser)
|
rs200903934
|
0.00001
|
|
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
|
rs762422242
|
0.00001
|
|
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val)
|
rs749058571
|
0.00001
|
|
NM_182961.4(SYNE1):c.24786T>G (p.Ala8262=)
|
rs978851902
|
0.00001
|
|
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter)
|
rs771760718
|
0.00001
|
|
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys)
|
rs767563434
|
0.00001
|
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
|
NM_183050.4(BCKDHB):c.633+1G>A
|
rs398124589
|
0.00001
|
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
|
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys)
|
rs772729658
|
0.00001
|
|
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln)
|
rs397515608
|
0.00001
|
|
NM_198129.4(LAMA3):c.5872G>T (p.Gly1958Ter)
|
rs2080986242
|
0.00001
|
|
NM_198129.4(LAMA3):c.6407C>T (p.Thr2136Ile)
|
rs370749309
|
0.00001
|
|
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)
|
rs777713989
|
0.00001
|
|
NM_198129.4(LAMA3):c.7627T>C (p.Tyr2543His)
|
rs778189535
|
0.00001
|
|
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)
|
rs774133746
|
0.00001
|
|
NM_198129.4(LAMA3):c.9511+1G>A
|
rs1296034886
|
0.00001
|
|
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro)
|
rs1554313639
|
0.00001
|
|
NM_198252.3(GSN):c.601_602insT (p.Arg201fs)
|
rs1277006645
|
0.00001
|
|
NM_198576.4(AGRN):c.1978C>T (p.Arg660Trp)
|
rs534519250
|
0.00001
|
|
NM_198904.4(GABRG2):c.631+1251G>T
|
rs1047885227
|
0.00001
|
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
|
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys)
|
rs750811263
|
0.00001
|
|
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro)
|
rs1359661881
|
0.00001
|
|
NM_199242.3(UNC13D):c.2756C>T (p.Ser919Phe)
|
rs748410297
|
0.00001
|
|
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)
|
rs1157287613
|
0.00001
|
|
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu)
|
rs202020396
|
0.00001
|
|
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)
|
rs746597173
|
0.00001
|
|
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)
|
rs137853136
|
0.00001
|
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
|
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)
|
rs532188689
|
0.00001
|
|
NM_201548.5(CERKL):c.526C>T (p.Gln176Ter)
|
rs988540767
|
0.00001
|
|
NM_201548.5(CERKL):c.677+547G>C
|
rs1044562973
|
0.00001
|
|
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp)
|
rs545095722
|
0.00001
|
|
NM_201596.3(CACNB2):c.510C>T (p.Ile170=)
|
rs760606646
|
0.00001
|
|
NM_203290.4(POLR1C):c.922+2T>C
|
rs778556895
|
0.00001
|
|
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)
|
rs372598000
|
0.00001
|
|
NM_203447.4(DOCK8):c.1823C>G (p.Pro608Arg)
|
rs189953367
|
0.00001
|
|
NM_203447.4(DOCK8):c.2675G>A (p.Ser892Asn)
|
rs1340101824
|
0.00001
|
|
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile)
|
rs199782622
|
0.00001
|
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
0.00001
|
|
NM_206933.4(USH2A):c.10597T>C (p.Tyr3533His)
|
rs1288596700
|
0.00001
|
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
|
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg)
|
rs1255592098
|
0.00001
|
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
|
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)
|
rs748393788
|
0.00001
|
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
|
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser)
|
rs776039417
|
0.00001
|
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
|
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
|
rs772407116
|
0.00001
|
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
|
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu)
|
rs1378786390
|
0.00001
|
|
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys)
|
rs755358293
|
0.00001
|
|
NM_206937.2(LIG4):c.845A>T (p.His282Leu)
|
rs777008519
|
0.00001
|
|
NM_207122.2(EXT2):c.156C>G (p.Ser52=)
|
rs766597724
|
0.00001
|
|
NM_207346.3(TSEN54):c.197T>C (p.Leu66Pro)
|
rs1388222262
|
0.00001
|
|
NM_207361.6(FREM2):c.4221T>A (p.Asp1407Glu)
|
rs1192686260
|
0.00001
|
|
NM_207361.6(FREM2):c.467G>T (p.Arg156Leu)
|
rs759269194
|
0.00001
|
|
NM_207361.6(FREM2):c.6445A>G (p.Met2149Val)
|
rs142821775
|
0.00001
|
|
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)
|
rs767978562
|
0.00001
|
|
NM_207361.6(FREM2):c.8176+2dup
|
rs779126010
|
0.00001
|
|
NM_213599.3(ANO5):c.1120-1G>A
|
rs561719071
|
0.00001
|
|
NM_213599.3(ANO5):c.1203G>T (p.Trp401Cys)
|
rs886042339
|
0.00001
|
|
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
|
NM_213653.4(HJV):c.842T>C (p.Ile281Thr)
|
rs74315326
|
0.00001
|
|
NM_213653.4(HJV):c.976C>T (p.Arg326Ter)
|
rs74315324
|
0.00001
|
|
NR_003051.3(RMRP):n.-16_-4dup
|
rs1554651422
|
0.00001
|
|
NR_003051.3(RMRP):n.-21_-2dup
|
rs1554651403
|
0.00001
|
|
NR_003051.3(RMRP):n.-22_-14dup
|
rs1563908167
|
0.00001
|
|
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT
|
rs1563908212
|
0.00001
|
|
NR_003051.3(RMRP):n.-22_-4dup
|
rs1554651427
|
0.00001
|
|
NR_003051.3(RMRP):n.-3_1dupCGTG
|
rs1554651381
|
0.00001
|
|
NR_003051.4(RMRP):n.195G>A
|
rs761398394
|
0.00001
|
|
NR_003051.4(RMRP):n.42G>A
|
rs1156413585
|
0.00001
|
|
FBN1:c.3589+62_3589+71del
|
rs72132658
|
|
|
GCK:c.864-159_864-149del
|
rs386134235
|
|
|
HNF4A deletion
|
|
|
|
MHS6:c.3647-65_3647-61del
|
rs3136363
|
|
|
MSH6:c.3647-51_3647-35del17
|
rs267607687
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MYH11:c.503-14_503-12del
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rs141564071
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NC_000001.10:g.(12049401_12052611)_(12057479_12058826)dup
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NC_000001.10:g.(120529706_120539619)_(120548212_120572528)dup
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NC_000001.10:g.(1455998_1458123)_(1458280_1458890)del
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NC_000001.10:g.(161277215_161279628)_(161279763_?)dup
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NC_000001.10:g.(161298288_161310383)_(161334542_?)dup
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NC_000001.10:g.(183529409_183532329)_(183559740_?)dup
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NC_000001.10:g.(193181608_193202122)_(193223946_?)del
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NC_000001.10:g.(215916678_215931936)_(215940131_215953184)dup
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NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
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NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
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NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del
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NC_000001.10:g.(21836011_21880470)_(21880636_21887118)del
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NC_000001.10:g.(226036256_226036597)_(226050552_226053596)del
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NC_000001.10:g.(228432273_228433113)_(228433390_228434228)del
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NC_000001.10:g.(235856787_235860382)_(236030207_?)dup
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NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
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NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
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NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
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NC_000001.10:g.(31406190_31409489)_(31418331_31422973)dup
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NC_000001.10:g.(39889867_39893126)_(39952811_?)dup
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NC_000001.10:g.(43814674_43814933)_(43815031_43817886)del
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NC_000001.10:g.(65845208_65849875)_(65855311_65858113)dup
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NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
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NC_000001.10:g.(7309687_7527889)_(7527962_7700459)dup
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NC_000001.10:g.(76216232_76226806)_(76229365_?)del
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NC_000001.10:g.(97548027_97564044)_(97564189_97658624)del
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NC_000001.10:g.(97658805_97700407)_(97700551_97770814)del
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NC_000001.10:g.(97848018_97915614)_(97981498_98015115)dup
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NC_000001.10:g.(?_100652477)_(100661979_100671785)del
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NC_000001.10:g.(?_115215718)_(115220663_115220953)del
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NC_000001.10:g.(?_120254418)_(120254784_120263792)del
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NC_000001.10:g.(?_1447541)_(1447854_1451391)del
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NC_000001.10:g.(?_1716723)_(1749315_1756835)dup
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NC_000001.10:g.(?_220087605)_(220101994_?)dup
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NC_000001.10:g.(?_46654354)_(46660074_46660224)dup
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NC_000001.10:g.(?_76190031)_(76229365_?)del
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NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup
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NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
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NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
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NC_000002.11:g.(15330528_15358896)_(15449372_15467873)del
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NC_000002.11:g.(15378811_15415607)_(15567919_15601324)del
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NC_000002.11:g.(15432891_15448339)_(15449372_15467873)del
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NC_000002.11:g.(15468437_15470721)_(15496541_15506703)dup
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NC_000002.11:g.(15470890_15492115)_(15493835_15496426)del
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NC_000002.11:g.(15567919_15601324)_(15618414_15629017)del
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NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
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NC_000002.11:g.(178545632_178562059)_(178576607_178592385)dup
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NC_000002.11:g.(211507390_211512586)_211513223del
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NC_000002.11:g.(228193506_228194321)_(228205097_228207460)dup
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NC_000002.11:g.(228235697_228243801)_(228244023_?)dup
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NC_000002.11:g.(228560798_228563451)_228563704del
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NC_000002.11:g.(231037676_231042253)_(231042397_231042872)del
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NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
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NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
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NC_000002.11:g.(26477343_26486247)_(26486348_26492820)del
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NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del
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NC_000002.11:g.(27535977_27545314)_(27545965_?)del
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NC_000002.11:g.(3660973_3685122)_(3692235_?)del
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NC_000002.11:g.(47607109_47612304)_(47614168_?)dup
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NC_000002.11:g.(47607109_47612304)_(47698202_47702163)del
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NC_000002.11:g.(47630542_47635539)_(47635695_47637232)del
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NC_000002.11:g.(47630542_47635539)_(47643569_47656880)del
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NC_000002.11:g.(47635695_47637232)_(47637512_47639552)del
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NC_000002.11:g.(47635695_47637232)_(47643569_47656880)del
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NC_000002.11:g.(47635695_47637232)_(47672797_47690169)del
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NC_000002.11:g.(47639700_47641407)_(47641558_47643434)del
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NC_000002.11:g.(47639700_47641407)_(47657081_47672686)dup
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NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del
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NC_000002.11:g.(47657081_47672686)_(47710368_?)del
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NC_000002.11:g.(47672797_47690169)_(47690294_47693796)del
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NC_000002.11:g.(48010633_48018065)_(48032167_48032756)del
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NC_000002.11:g.(48018263_48023032)_(48033791_48033917)del
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NC_000002.11:g.(48028295_48030558)_(48032167_48032756)del
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NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
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NC_000002.11:g.(73682423_73716760)_(73762077_73777393)dup
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NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
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NC_000002.11:g.(98853194_98866780)_(98872638_98887144)del
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NC_000002.11:g.(?_110880912)_(110886837_110889255)del
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NC_000002.11:g.(?_150426150)_(150443664_150444177)dup
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NC_000002.11:g.(?_169779448)_(169887834_?)dup
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NC_000002.11:g.(?_172290760)_(172341563_?)dup
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NC_000002.11:g.(?_215590369)_(215617280_215632205)del
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NC_000002.11:g.(?_219524378)_(219528167_?)del
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NC_000002.11:g.(?_241653180)_(241709124_241710387)dup
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NC_000002.11:g.(?_44113362)_(44223145_?)dup
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NC_000002.11:g.(?_46844310)_(46844438_46845911)del
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NC_000002.11:g.(?_47596286)_(47614168_?)del
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NC_000002.11:g.(?_47596286)_(47630542_47635539)del
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NC_000002.11:g.(?_47596286)_(47657081_47672686)del
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NC_000002.11:g.(?_47596286)_(47710368_?)del
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NC_000002.11:g.(?_47596321)_(47596721_47600601)del
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NC_000002.11:g.(?_47596341)_(47596701_?)dup
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NC_000002.11:g.(?_47630205)_(47630542_47635539)del
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NC_000002.11:g.(?_47630205)_(47698202_47702163)del
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NC_000002.11:g.(?_47630205)_(47710368_?)del
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NC_000002.11:g.(?_55861197)_55874535del
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NC_000002.11:g.(?_71680752)_(71681217_71708012)del
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NC_000002.11:g.(?_79740059)_(80875994_?)del
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NC_000002.11:g.(?_87011727)_(87018838_?)dup
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NC_000002.11:g.(?_98703594)_(98779440_98797478)del
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NC_000002.11:g.211436160_211541748del105589
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NC_000002.12:g.(47379970_47385165)_(47387029_?)del
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NC_000002.12:g.(47416430_47429741)_(47445658_47463030)del
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NC_000002.12:g.(47429942_47445547)_(47445658_47463030)del
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NC_000002.12:g.(?_47403066)_(47410373_47412413)del
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NC_000002.12:g.(?_47403066)_(47416430_47429741)del
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NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
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NC_000003.11:g.(132438675_132440806)_132441126del
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NC_000003.11:g.(1427482_1443116)_(1445295_?)dup
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NC_000003.11:g.(148847728_148857790)_(148890984_?)del
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NC_000003.11:g.(158384176_158399783)_(158410362_?)dup
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NC_000003.11:g.(179137294_179138676)_(179169372_?)dup
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NC_000003.11:g.(25761683_25770623)_(25792755_25805556)dup
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NC_000003.11:g.(25781291_25792588)_(25792755_25805556)del
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NC_000003.11:g.(33175758_33183886)_(33189266_?)del
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NC_000003.11:g.(370038_382476)_(436556_439909)dup
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NC_000003.11:g.(37045966_37048481)_(37048555_37050304)del
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NC_000003.11:g.(37061955_37067127)_(37067499_37070274)del
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NC_000003.11:g.(37061955_37067127)_(37070424_37081676)dup
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NC_000003.11:g.(37067499_37070274)_(37070424_37081676)[3]
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NC_000003.11:g.(37067499_37070274)_(37070424_37081676)dup
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NC_000003.11:g.(37083823_37089009)_(37089175_37090007)del
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NC_000003.11:g.(37089175_37090007)_(37090509_37091976)dup
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NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
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NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
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NC_000003.11:g.(81643175_81691931)_(81754765_81810525)dup
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NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
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NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
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NC_000003.11:g.(97487075_97499002)_(97520087_?)del
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NC_000003.11:g.(?_10068070)_(10070406_10074515)del
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NC_000003.11:g.(?_10068070)_(10094182_10101977)del
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NC_000003.11:g.(?_128445025)_(128533642_?)dup
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NC_000003.11:g.(?_142168076)_(142168445_142171969)del
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NC_000003.11:g.(?_148890285)_(148939833_?)del
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NC_000003.11:g.(?_179113875)_(179169259_?)dup
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NC_000003.11:g.(?_33155449)_(33166072_33171430)del
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NC_000003.11:g.(?_4402828)_(4508967_?)dup
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NC_000003.11:g.(?_66119284)_(66429348_?)dup
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NC_000003.11:g.(?_81538849)_(81539615_81548260)del
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NC_000003.11:g.(?_8775485)_(8788452_?)del
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NC_000003.11:g.(?_93698982)_(93774523_?)dup
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NC_000003.11:g.14187530_(14190449_14193834)del
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NC_000003.11:g.93714775_(93722753_93754174)del
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NC_000003.12:g.(37042332_37047518)_(37050847_?)del
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NC_000003.12:g.(?_36993349)_(37028933_37040185)del
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NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
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NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
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NC_000004.11:g.(103790345_103806372)_(103813965_?)del
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NC_000004.11:g.(123949551_123977541)_(123977596_123978363)del
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NC_000004.11:g.(123949551_123977541)_(123978444_124011733)del
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NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del
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NC_000004.11:g.(128878748_128886226)_(128887140_?)del
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NC_000004.11:g.(151656519_151682934)_(151936650_?)dup
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NC_000004.11:g.(159593643_159601618)_(159620283_159624574)dup
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NC_000004.11:g.(17506099_17510893)_(17513858_?)del
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NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
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NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del
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NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
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NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
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NC_000004.11:g.(93511438_94006145)_(94032105_94128554)del
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NC_000004.11:g.(?_120056938)_(120108945_?)dup
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NC_000004.11:g.(?_155484162)_(155493960_?)del
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NC_000004.11:g.(?_155506411)_(155510715_155511785)del
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NC_000004.11:g.(?_155506426)_(155511895_?)del
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NC_000004.11:g.(?_155525322)_(155533809_?)del
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NC_000004.11:g.(?_1795019)_(1795771_1800980)dup
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NC_000005.9:g.(112103088_112111325)_(112111435_112116486)del
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NC_000005.9:g.(112103088_112111325)_(112116601_112128142)del
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NC_000005.9:g.(126758465_126769054)_(126769202_126770378)del
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NC_000005.9:g.(126781386_126783248)_(126784915_126790257)del
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NC_000005.9:g.(127648488_127653840)_(127654694_127664387)del
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NC_000005.9:g.(149633110_149636135)_(149636395_149637125)del
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NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
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NC_000005.9:g.(37213835_37221425)_(37249531_?)dup
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NC_000005.9:g.(37231152_37238958)_(37249531_?)dup
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NC_000005.9:g.(42566047_42629139)_(42629206_42688991)del
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NC_000005.9:g.(52954455_52978947)_(52979169_?)dup
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NC_000005.9:g.(60170511_60183266)_(60186914_60194102)dup
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NC_000005.9:g.(60200701_60214091)_(60240906_?)del
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NC_000005.9:g.(60241210_60368951)_(60448865_?)del
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NC_000005.9:g.(77473261_77477330)_(77477487_77511878)dup
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NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
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NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
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NC_000005.9:g.(89941909_89943314)_(89943582_89947420)del
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NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
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NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
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NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
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NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
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NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
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NC_000005.9:g.(?_112036100)_(112045850_?)del
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NC_000005.9:g.(?_112073555)_(112181937_?)del
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NC_000005.9:g.(?_1201709)_(1225227_?)dup
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NC_000005.9:g.(?_1253281)_(1278912_1279405)dup
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NC_000005.9:g.(?_131892615)_(131980314_?)del
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NC_000005.9:g.(?_155753766)_(155771688_155935610)dup
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NC_000005.9:g.(?_1801495)_(1816166_?)dup
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NC_000005.9:g.(?_218337)_(235455_236542)del
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NC_000005.9:g.(?_218337)_(257198_?)dup
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NC_000005.9:g.(?_218434)_(257198_?)dup
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NC_000005.9:g.(?_60169658)_(60183348_60186715)del
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NC_000005.9:g.(?_60240955)_(60241210_60368951)del
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NC_000005.9:g.(?_73980968)_(73992932_74001043)del
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NC_000006.11:g.(102124680_102130427)_(102134229_102247522)del
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NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
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NC_000006.11:g.(10813957_10818082)_(10831111_?)dup
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NC_000006.11:g.(129381042_129419317)_(129419561_129465045)del
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NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
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NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
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NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
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NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
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NC_000006.11:g.(162683798_162864341)_(162864506_163148693)dup
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NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del
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NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del
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NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
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NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
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NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
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NC_000006.11:g.(51915094_51917873)_(51930876_51934254)dup
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NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
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NC_000006.11:g.(5261894_5368782)_(5545574_5613401)dup
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NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
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NC_000006.11:g.(64709077_64776230)_(64791896_64940484)del
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NC_000006.11:g.(64776385_64791748)_(64791896_64940484)del
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NC_000006.11:g.(65336139_65523270)_(65707597_65767506)del
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NC_000006.11:g.(65596736_65612005)_(65655808_65707474)del
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NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
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NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
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NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
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NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
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NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
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NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
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NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
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NC_000006.11:g.(80881108_80910650)_(80982939_81053380)dup
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NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
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NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del
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NC_000006.11:g.(?_5108652)_(5261184_?)del
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NC_000006.11:g.(?_5261745)_(5545574_5613401)del
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NC_000006.11:g.(?_70385640)_(70411846_70423536)dup
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NC_000006.11:g.(?_74171459)_(74202076_74207458)dup
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NC_000006.11:g.(?_74303101)_(74310165_74320122)del
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NC_000006.11:g.(?_74303101)_(74363716_?)dup
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NC_000006.11:g.(?_80194707)_(80247148_?)dup
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NC_000006.11:g.129802434_(129802585_129807618)del
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NC_000007.13:g.(101559506_101671377)_(101671426_101713618)dup
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NC_000007.13:g.(107303881_107312582)_(107315555_107323646)del
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NC_000007.13:g.(107626809_107635331)_(107635406_107638801)del
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NC_000007.13:g.(117120202_117144306)_(117144418_117149087)del
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NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
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NC_000007.13:g.(117120202_117144306)_(117149197_117170952)del
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NC_000007.13:g.(117120202_117144306)_(117188878_117199517)del
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NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
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NC_000007.13:g.(117149197_117170952)_(117171169_117174329)dup
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NC_000007.13:g.(117149197_117170952)_(117180401_117182069)del
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NC_000007.13:g.(117149197_117170952)_(117199710_117227792)del
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NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
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NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
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NC_000007.13:g.(117171169_117174329)_(117174420_117175301)dup
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NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
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NC_000007.13:g.(117175466_117176601)_(117176728_117180153)dup
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NC_000007.13:g.(117175466_117176601)_(117199710_117227792)dup
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NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
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NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
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NC_000007.13:g.(117180401_117182069)_(117182163_117188694)dup
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NC_000007.13:g.(117182163_117188694)_(117188878_117199517)dup
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NC_000007.13:g.(117188878_117199517)_(117199710_117227792)dup
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NC_000007.13:g.(117199710_117227792)_(117227888_117230406)del
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NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
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NC_000007.13:g.(117199710_117227792)_(117254768_117267575)del
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NC_000007.13:g.(117227888_117230406)_(117230494_117231987)dup
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NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
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NC_000007.13:g.(117232712_117234983)_(117235113_117242879)dup
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NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
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NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
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NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
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NC_000007.13:g.(117243837_117246727)_(117254768_117267575)dup
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NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
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NC_000007.13:g.(117246808_117250572)_(117251863_117254666)del
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NC_000007.13:g.(117250724_117251634)_(117251863_117254666)dup
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NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
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NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
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NC_000007.13:g.(117267825_117282491)_(117282648_117292895)dup
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NC_000007.13:g.(117282648_117292895)_(117292986_117304741)dup
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NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
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NC_000007.13:g.(117292986_117304741)_(117305619_117306961)del
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NC_000007.13:g.(117292986_117304741)_(117308720_?)dup
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NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
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NC_000007.13:g.(117305619_117306961)_(117308720_?)dup
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NC_000007.13:g.(121733213_121738503)_(121773796_121784214)del
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NC_000007.13:g.(121733213_121738503)_(121784304_?)del
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NC_000007.13:g.(146536997_146740998)_(146741147_146805238)del
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NC_000007.13:g.(146536997_146740998)_(146829602_146997232)del
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NC_000007.13:g.(147600814_147674953)_(147675082_147815209)del
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NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del
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NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del
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NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
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NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
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NC_000007.13:g.(6013174_6017218)_(6037055_6038738)del
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NC_000007.13:g.(6018328_6022454)_(6027252_6029430)dup
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NC_000007.13:g.(6018328_6022454)_(6048681_?)dup
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NC_000007.13:g.(6022623_6026521)_(6026546_6026958)dup
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NC_000007.13:g.(6029587_6031603)_(6042268_6043320)del
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NC_000007.13:g.(6031689_6035164)_(6037055_6038738)del
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NC_000007.13:g.(6031689_6035164)_(6038907_6042083)del
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NC_000007.13:g.(66098432_66103239)_(66108217_?)dup
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NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup
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NC_000007.13:g.(92123944_92126026)_(92126092_92129017)del
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NC_000007.13:g.(?_117120016)_(117120202_117144306)del
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NC_000007.13:g.(?_117120016)_(117308720_?)dup
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NC_000007.13:g.(?_117120078)_(117120202_117144306)dup
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NC_000007.13:g.(?_117120078)_(117308720_?)del
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NC_000007.13:g.(?_151832009)_(151960216_151962122)dup
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NC_000007.13:g.(?_151832009)_(152055761_152132710)dup
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NC_000007.13:g.(?_33169151)_(33185977_33192312)dup
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NC_000007.13:g.(?_6010555)_(6027252_6029430)del
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NC_000007.13:g.(?_6010555)_(6027252_6029430)dup
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NC_000007.13:g.(?_6010555)_(6037055_6038738)del
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NC_000007.13:g.(?_6010555)_(6048738_?)dup
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NC_000007.13:g.(?_6061877)_(6098861_?)dup
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NC_000007.13:g.(?_65425670)_(65447302_?)dup
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NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del
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NC_000007.14:g.(5987621_5989799)_(5989956_5991972)del
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NC_000007.14:g.(5987621_5989799)_(5992058_5995533)del
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NC_000007.14:g.(?_5970924)_(6009107_?)del
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NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
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NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
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NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
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NC_000008.10:g.(100287483_100396435)_(100403933_100443764)dup
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NC_000008.10:g.(11352101_11400732)_(11422109_?)dup
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NC_000008.10:g.(143957812_143958097)_(143961237_?)dup
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NC_000008.10:g.(30958472_30969130)_(30982517_30989880)del
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NC_000008.10:g.(31007972_31012139)_(31031278_?)del
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NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
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NC_000008.10:g.(48730123_48731962)_(48732072_48733279)del
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NC_000008.10:g.(48736558_48739216)_(48872744_?)dup
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NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
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NC_000008.10:g.(68115487_68116914)_(68130374_68131665)del
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NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del
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NC_000008.10:g.(?_103216728)_(103251347_?)dup
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NC_000008.10:g.(?_143991974)_(143995835_143996120)dup
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NC_000008.10:g.(?_48872762)_(48890721_?)dup
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NC_000008.10:g.(?_64081111)_(64125347_?)del
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NC_000008.10:g.(?_68109883)_(68255913_?)del
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NC_000008.10:g.(?_74888376)_(74888727_74890990)dup
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NC_000008.10:g.(?_77892493)_(77912525_?)del
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NC_000008.10:g.(?_99130067)_(99146888_99148709)dup
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NC_000009.11:g.(104187910_104188836)_(104193180_104197990)del
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NC_000009.11:g.(108484903_108510353)_(108538893_?)del
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NC_000009.11:g.(108510472_108536145)_(108538893_?)del
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NC_000009.11:g.(111644468_111651611)_(111696613_?)del
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NC_000009.11:g.(119449661_119459940)_(119463580_?)del
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NC_000009.11:g.(126129637_126129851)_(126136200_126136857)del
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NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del
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NC_000009.11:g.(131105573_131107433)_(131112855_131114916)del
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NC_000009.11:g.(13133904_13136090)_(13136182_13136710)del
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NC_000009.11:g.(133884975_133901671)_(133928353_133932315)del
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NC_000009.11:g.(134388719_134390812)_(134399194_?)del
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NC_000009.11:g.(135164039_135171258)_(135176191_135187143)del
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NC_000009.11:g.(139327732_139328500)_(139334275_?)dup
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NC_000009.11:g.(215030_271626)_(328172_332397)dup
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NC_000009.11:g.(215030_271626)_(336719_339005)dup
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NC_000009.11:g.(215030_271626)_(340322_368017)dup
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NC_000009.11:g.(215030_271626)_(399260_404917)dup
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NC_000009.11:g.(332479_334224)_(422136_426884)del
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NC_000009.11:g.(340322_368017)_(465260_?)dup
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NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
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NC_000009.11:g.(36249395_36276890)_(36277054_?)dup
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NC_000009.11:g.(407070_414781)_(434976_439244)del
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NC_000009.11:g.(407070_414781)_(465260_?)dup
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NC_000009.11:g.(4985631_4985939)_(5090912_5123003)dup
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NC_000009.11:g.(504755_676889)_(677010_710803)del
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NC_000009.11:g.(5090912_5123003)_(5129949_?)dup
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NC_000009.11:g.(6565430_6587140)_(6645693_?)dup
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NC_000009.11:g.(6620320_6644613)_(6645693_?)del
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NC_000009.11:g.(94060359_94087599)_(94087687_94118164)del
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NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
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NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
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NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
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NC_000009.11:g.(?_108456805)_(108468035_108483817)del
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NC_000009.11:g.(?_117164359)_(117267737_?)dup
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NC_000009.11:g.(?_119449580)_(119463580_?)del
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NC_000009.11:g.(?_130697373)_(130700764_?)dup
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NC_000009.11:g.(?_214864)_(215030_271626)del
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NC_000009.11:g.(?_214864)_(271730_286460)del
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NC_000009.11:g.(?_214864)_(399260_404917)del
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NC_000009.11:g.(?_214864)_(399260_404917)dup
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NC_000009.11:g.(?_4490467)_(4587470_?)dup
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NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3]
|
rs1563907859
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NC_000009.12:g.35658022_35658032dup
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rs1554651425
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NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3]
|
rs727502778
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NC_000009.12:g.35658023_35658024delinsTT
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rs2131809702
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NC_000009.12:g.35658023_35658038dup
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rs1823637651
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NC_000009.12:g.35658024_35658038dup
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NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA
|
rs2131809783
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NC_000009.12:g.35658025_35658039dup
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rs1823639713
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NC_000009.12:g.35658026_35658032dup
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rs2131809964
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NC_000009.12:g.35658026_35658037dup
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rs2131809978
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NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
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NC_000010.10:g.(131676114_131755521)_(131762539_?)del
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NC_000010.10:g.(14981869_14987103)_(14996432_?)dup
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NC_000010.10:g.(29782321_29783842)_(29784111_29788044)del
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NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
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NC_000010.10:g.(50714059_50732078)_(50747170_?)dup
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NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
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NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
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NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
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NC_000010.10:g.(56138703_56287571)_(56287638_56423931)dup
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NC_000010.10:g.(70196999_70202673)_(70231731_?)dup
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NC_000010.10:g.(73454017_73455174)_73468962del
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NC_000010.10:g.(75585106_75597225)_(75634350_?)dup
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NC_000010.10:g.(79779024_79781303)_(79782143_79784306)del
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NC_000010.10:g.(88659884_88671996)_(88679227_88681276)del
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NC_000010.10:g.(90986762_90987956)_(90988156_91005432)del
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NC_000010.10:g.(97397194_97402748)_(97416568_?)dup
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NC_000010.10:g.(?_102505338)_(102510649_102539254)del
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NC_000010.10:g.(?_102505467)_(102510649_102539254)del
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NC_000010.10:g.(?_12110915)_(12165228_?)dup
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NC_000010.10:g.(?_124221068)_(124274424_?)dup
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NC_000010.10:g.(?_13685705)_(13696513_13698635)dup
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NC_000010.10:g.(?_50822082)_(50835832_50854550)dup
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NC_000010.10:g.(?_55580859)_(55591294_55600079)del
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NC_000010.10:g.(?_70173820)_(70231731_?)dup
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NC_000010.10:g.(?_75670858)_(75677260_?)dup
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NC_000010.10:g.(?_88635623)_(88683477_?)dup
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NC_000010.10:g.(?_90973325)_(91011797_?)dup
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NC_000010.11:g.(86838980_86875866)_(86876086_86890061)del
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NC_000011.10:g.(?_5225465)_(5227072_?)del
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NC_000011.9:g.(108114846_108115514)_(108239827_?)dup
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NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
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NC_000011.9:g.(108129803_108137897)_(108239827_?)del
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NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del
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NC_000011.9:g.(108225602_108235808)_(108236198_?)dup
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NC_000011.9:g.(108225602_108235808)_(108239827_?)del
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NC_000011.9:g.(108225602_108235808)_(108239827_?)dup
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NC_000011.9:g.(108225602_108235808)_(108239830_?)dup
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NC_000011.9:g.(117206397_117209281)_(117222705_117232550)dup
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NC_000011.9:g.(118215194_118219741)_(118224498_?)del
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NC_000011.9:g.(118971849_118972204)_(118972786_?)del
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NC_000011.9:g.(128628222_128638012)_(128651919_128675260)dup
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NC_000011.9:g.(1467138_1471005)_(1477918_1480421)del
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NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del
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NC_000011.9:g.(34938363_34952950)_(34953032_34969052)dup
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NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
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NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
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NC_000011.9:g.(5246957_5247806)_(5248302_?)del
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NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del
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NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
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NC_000011.9:g.(63426725_63438761)_(63439203_?)del
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NC_000011.9:g.(64956218_64972153)_(64974291_64975525)del
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NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
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NC_000011.9:g.(67377107_67377851)_(67380013_?)del
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NC_000011.9:g.(67378042_67378465)_(67380013_?)del
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NC_000011.9:g.(68575107_68579904)_(68609400_?)dup
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NC_000011.9:g.(70785658_70803467)_(70858385_70935742)dup
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NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
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NC_000011.9:g.(93754705_93778838)_(93779084_93796673)del
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NC_000011.9:g.(?_107992257)_(108018896_?)dup
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NC_000011.9:g.(?_18300216)_(18307007_18308137)del
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NC_000011.9:g.(?_22644078)_(22647388_?)del
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NC_000011.9:g.(?_5246695)_(5255713_?)del
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NC_000011.9:g.(?_64513860)_(64514831_64517847)del
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NC_000011.9:g.(?_68080076)_(68216744_?)del
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NC_000011.9:g.(?_85339636)_(85347581_?)dup
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NC_000011.9:g.(?_95566043)_(95657272_?)dup
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NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
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NC_000012.11:g.(122281739_122284767)_(122287697_122292608)del
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NC_000012.11:g.(122295339_122295710)_(122295726_122296592)del
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NC_000012.11:g.(122745995_122748118)_(122751042_?)dup
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NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
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NC_000012.11:g.(124189236_124191272)_(124192951_?)del
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NC_000012.11:g.(6105389_6120782)_(6121297_6122646)del
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NC_000012.11:g.(6105389_6120782)_(6233842_?)del
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NC_000012.11:g.(6184718_6204625)_(6233837_?)dup
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NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del
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NC_000012.11:g.(88500876_88502842)_(88505636_88508196)del
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NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del
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NC_000012.11:g.(95365397_95387945)_(95397474_?)dup
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NC_000012.11:g.(?_120875892)_(120878546_?)dup
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NC_000012.11:g.(?_120875915)_(120878534_?)dup
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NC_000012.11:g.(?_124105569)_(124118324_?)dup
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NC_000012.11:g.(?_124155659)_(124172725_124175079)dup
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NC_000012.11:g.(?_124155659)_(124184358_124189078)del
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NC_000012.11:g.(?_49688929)_(49691510_49691740)dup
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NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
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NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
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NC_000013.10:g.(101077986_101101505)_(101101560_101167680)dup
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NC_000013.10:g.(103525694_103527656)_(103528352_?)del
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NC_000013.10:g.(23869627_23894775)_(23894900_23898506)del
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NC_000013.10:g.(32918791_32920963)_(32921034_32928997)del
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NC_000013.10:g.(32921034_32928997)_(32945238_32950806)dup
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NC_000013.10:g.(32921034_32928997)_(32954283_32968825)dup
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NC_000013.10:g.(32937671_32944538)_(32944695_32945092)del
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NC_000013.10:g.(32937671_32944538)_(32945238_32950806)dup
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NC_000013.10:g.(32937671_32944538)_(32973810_?)dup
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NC_000013.10:g.(32945238_32950806)_(32950929_32953453)del
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NC_000013.10:g.(32953653_32953886)_(32954051_32954143)del
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NC_000013.10:g.(32954283_32968825)_(32969071_32971034)del
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NC_000013.10:g.(52549305_52585422)_(52585631_?)del
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NC_000013.10:g.(60385058_60407240)_(60590280_60616823)del
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NC_000013.10:g.(?_20796100)_(20797635_20803718)del
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NC_000013.10:g.(?_23755059)_(23778029_23808749)dup
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NC_000013.10:g.(?_32889616)_(32929426_32930564)dup
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NC_000013.10:g.(?_32889616)_(32973810_?)dup
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NC_000013.11:g.(32326614_32329442)_(32339423_32344557)del
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NC_000013.11:g.(32346897_32354860)_(32357930_32362522)del
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NC_000013.11:g.(32357930_32362522)_(32376792_32379316)del
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NC_000013.11:g.(?_32315479)_(32316528_32319076)del
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NC_000013.11:g.(?_32315479)_(32399673_?)del
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NC_000014.8:g.(102931627_102963315)_(102968819_?)del
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NC_000014.8:g.(21794333_21795781)_(21798547_21802763)del
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NC_000014.8:g.(23249261_23282108)_(23289021_?)del
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NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del
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NC_000014.8:g.(32315798_32319324)_(32319408_32328323)del
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NC_000014.8:g.(68251995_68252574)_(68283307_?)dup
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NC_000014.8:g.(74764773_74766250)_(74769768_?)del
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NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del
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NC_000014.8:g.(?_102829248)_(102968819_?)dup
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NC_000014.8:g.(?_23242430)_(23245528_23248001)del
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NC_000014.8:g.(?_88399357)_(88417093_88429727)del
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NC_000015.9:g.(23062320_23086233)_(23086437_?)del
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NC_000015.9:g.(28414802_28419540)_(28419767_28420657)dup
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NC_000015.9:g.(28443916_28446601)_(28447761_28451385)dup
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NC_000015.9:g.(28538169_28544547)_(28544663_28566507)dup
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NC_000015.9:g.(32404101_32446107)_(32462385_?)dup
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NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del
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NC_000015.9:g.(44855500_44856744)_(44858504_44859621)del
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NC_000015.9:g.(44861704_44862722)_(44867240_44876011)del
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NC_000015.9:g.(44865019_44865744)_(44867240_44876011)dup
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NC_000015.9:g.(44876757_44877833)_(44881613_44884528)dup
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NC_000015.9:g.(62211649_62212265)_(62352665_?)dup
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NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del
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NC_000015.9:g.(72648959_72668060)_(72668815_?)del
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NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
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NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
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NC_000015.9:g.(76518271_76523673)_(76523740_76566752)del
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NC_000015.9:g.(90193173_90195833)_(90198683_?)del
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NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
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NC_000015.9:g.(?_100940599)_(101084926_?)dup
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NC_000015.9:g.(?_31196075)_(31229463_31233768)dup
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NC_000015.9:g.(?_41679550)_(41694695_?)del
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NC_000015.9:g.(?_42651697)_(42704516_?)del
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NC_000015.9:g.(?_42651697)_(42704516_?)dup
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NC_000015.9:g.(?_43891760)_(43897598_43900060)del
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NC_000015.9:g.(?_64680002)_(64680164_64686144)del
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NC_000015.9:g.(?_89346666)_(89418585_?)del
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NC_000015.9:g.68504037_68504039delGAT
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rs121908080
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NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
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NC_000016.9:g.(180591_188148)_(188672_?)del
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NC_000016.9:g.(23614991_23619184)_(23619334_23625324)dup
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NC_000016.9:g.(23614991_23619184)_(23625413_23632682)del
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NC_000016.9:g.(23614991_23619184)_(23625413_23632682)dup
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NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del
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NC_000016.9:g.(23619334_23625324)_(23625413_23632682)dup
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NC_000016.9:g.(23634452_23635329)_(23635416_23637556)del
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NC_000016.9:g.(23634452_23635392)_(23635416_23637556)del
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NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del
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NC_000016.9:g.(23635416_23637556)_(23647656_23649170)del
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NC_000016.9:g.(46940888_46943595)_(46965210_?)dup
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NC_000016.9:g.(47495338_47531309)_(47545684_47549431)del
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NC_000016.9:g.(47495338_47531309)_(47581460_47614205)del
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NC_000016.9:g.(47623014_47627410)_(47630443_47644736)del
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NC_000016.9:g.(47703329_47722951)_(47735435_?)dup
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NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
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NC_000016.9:g.(68771367_68772199)_(68772315_68835572)del
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NC_000016.9:g.(68849663_68853182)_(68863701_68867192)dup
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NC_000016.9:g.(68857530_68862076)_(68863701_68867192)dup
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NC_000016.9:g.(78198187_78420756)_(78420846_78458766)del
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NC_000016.9:g.(87925561_87935517)_(87970113_?)del
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NC_000016.9:g.(8900265_8904935)_(8943195_?)del
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NC_000016.9:g.(8906964_8941580)_(8943195_?)del
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NC_000016.9:g.(89180896_89187208)_(89212458_89220497)dup
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NC_000016.9:g.(89595988_89597090)_(89620972_89623294)del
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NC_000016.9:g.(89818631_89824984)_(89883066_?)dup
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NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
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NC_000016.9:g.(89831475_89833548)_(89883066_?)del
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NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
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NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
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NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
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NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
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NC_000016.9:g.(89877480_89880927)_(89883066_?)del
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NC_000016.9:g.(89877480_89880927)_(89883066_?)dup
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NC_000016.9:g.(?_135799)_(143324_148142)dup
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NC_000016.9:g.(?_1560427)_(1576798_1607935)dup
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NC_000016.9:g.(?_21675288)_(21772051_?)del
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NC_000016.9:g.(?_23532074)_(23568672_?)dup
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NC_000016.9:g.(?_23614482)_(23614991_23619184)del
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NC_000016.9:g.(?_23614482)_(23619334_23625324)del
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NC_000016.9:g.(?_23614482)_(23637719_23640524)del
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NC_000016.9:g.(?_23614482)_(23652679_?)del
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NC_000016.9:g.(?_28488599)_(28495440_28497667)del
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NC_000016.9:g.(?_28853731)_(28857670_?)del
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NC_000016.9:g.(?_30194730)_(30200398_?)dup
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NC_000016.9:g.(?_30759745)_(30772498_?)dup
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NC_000016.9:g.(?_3704691)_(3708097_?)del
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NC_000016.9:g.(?_46723570)_(46732307_?)dup
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NC_000016.9:g.(?_46918273)_(46965202_?)dup
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NC_000016.9:g.(?_56899118)_56906295del
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NC_000016.9:g.(?_70286296)_(70296428_70298860)dup
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NC_000016.9:g.(?_730409)_(732802_?)dup
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NC_000016.9:g.(?_88880141)_(88909238_88923165)dup
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NC_000016.9:g.(?_88880141)_(88923375_?)dup
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NC_000016.9:g.(?_8891669)_(8895768_8898623)dup
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NC_000016.9:g.(?_8891669)_(8898701_8900172)dup
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NC_000016.9:g.(?_8891669)_(8905571_8906847)dup
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NC_000016.9:g.(?_89160216)_(89187322_89199543)dup
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NC_000017.10:g.(15164079_15168470)_(15168675_?)del
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NC_000017.10:g.(1665408_1670196)_(1675370_1678351)del
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NC_000017.10:g.(1665408_1670196)_(1680869_?)dup
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NC_000017.10:g.(18210281_18211664)_(18212256_18217912)dup
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NC_000017.10:g.(18927697_18939270)_(18950337_?)del
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NC_000017.10:g.(29687722_29701030)_(29704696_?)dup
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NC_000017.10:g.(33426810_33427615)_(33434467_33445519)dup
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NC_000017.10:g.(33430344_33430472)_(33430564_33433404)del
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NC_000017.10:g.(35567405_35578644)_(35583374_35591889)dup
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NC_000017.10:g.(41197820_41199659)_(41199721_41201137)del
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NC_000017.10:g.(41197820_41199659)_(41276133_41277287)del
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NC_000017.10:g.(41197820_41199659)_(41277501_?)del
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NC_000017.10:g.(41199721_41201137)_(41203135_41209068)del
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NC_000017.10:g.(41199721_41201137)_(41203135_41209068)dup
|
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NC_000017.10:g.(41199721_41201137)_(41276133_41277287)dup
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NC_000017.10:g.(41199721_41201137)_(41277382_?)dup
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NC_000017.10:g.(41199721_41201137)_(41277501_?)dup
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NC_000017.10:g.(41201212_41203079)_(41203135_41209068)del
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NC_000017.10:g.(41203135_41209068)_(41209153_41215349)del
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NC_000017.10:g.(41203135_41209068)_(41276133_41277287)dup
|
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NC_000017.10:g.(41203135_41209068)_(41277501_?)dup
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NC_000017.10:g.(41209153_41215349)_(41219713_41222944)del
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NC_000017.10:g.(41209153_41215349)_(41228632_41234420)dup
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NC_000017.10:g.(41209153_41215349)_(41277501_?)del
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NC_000017.10:g.(41215391_41215890)_(41215969_41219624)del
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NC_000017.10:g.(41215969_41219624)_(41226539_41228504)del
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NC_000017.10:g.(41219713_41222944)_(41223256_41226347)del
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NC_000017.10:g.(41219713_41222944)_(41226539_41228504)del
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NC_000017.10:g.(41223256_41226347)_(41258551_41267742)del
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NC_000017.10:g.(41228632_41234420)_(41234593_41242960)del
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NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
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NC_000017.10:g.(41247940_41249260)_(41256279_41256884)del
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NC_000017.10:g.(41247940_41249260)_41251831del
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NC_000017.10:g.(41251898_41256138)_(41258551_41267742)del
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NC_000017.10:g.(41256974_41258472)_(41258551_41267742)del
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NC_000017.10:g.(41256974_41258472)_(41267797_41276033)del
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NC_000017.10:g.(41258551_41267742)_(41277501_?)dup
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NC_000017.10:g.(41267797_41276033)_(41277382_?)dup
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NC_000017.10:g.(41267797_41276033)_(41277501_?)del
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NC_000017.10:g.(56774221_56780556)_(56811704_?)del
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NC_000017.10:g.(56780691_56787219)_(56801462_56809844)dup
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NC_000017.10:g.(56780691_56787219)_(56812973_?)del
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NC_000017.10:g.(56801462_56809844)_(56809906_56811478)del
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NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del
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NC_000017.10:g.(602621_613772)_(618097_?)dup
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NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del
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NC_000017.10:g.(73754681_73758784)_(73761281_?)del
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NC_000017.10:g.(75398786_75478225)_(75496676_?)dup
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NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del
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NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del
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NC_000017.10:g.(8007534_8011785)_(8014850_8015410)del
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NC_000017.10:g.(8015515_8017801)_(8020299_8021161)del
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NC_000017.10:g.(?_10293638)_(10298759_10299646)del
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NC_000017.10:g.(?_3379295)_(3402701_?)del
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NC_000017.10:g.(?_3379295)_(3402701_?)dup
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NC_000017.10:g.(?_3539761)_(3566398_?)del
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NC_000017.10:g.(?_3539761)_3561464del
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NC_000017.10:g.(?_36046433)_(36105070_?)del
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NC_000017.10:g.(?_411907)_(440417_455111)dup
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NC_000017.10:g.(?_411907)_(618097_?)del
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NC_000017.10:g.(?_41196311)_(41199721_41201137)del
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NC_000017.10:g.(?_41196311)_(41203135_41209068)del
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NC_000017.10:g.(?_41196311)_(41277382_?)del
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NC_000017.10:g.(?_66508519)_(66529573_?)dup
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NC_000017.10:g.(?_78075324)_(78093682_?)dup
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NC_000017.10:g.41246248_(41276133_41277287)dup
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NC_000017.10:g.[(59861786_59870957)_(59886119_59924461)dup;(?_59870952)_(59886124_?)dup]
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NC_000017.11:g.(43047704_43049120)_(43049195_43051062)del
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NC_000017.11:g.(43051118_43057051)_(43063952_43067607)dup
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NC_000017.11:g.(43051118_43057051)_(43076615_43082403)del
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NC_000017.11:g.(43057136_43063332)_(43063952_43067607)del
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NC_000017.11:g.(43057136_43063332)_(43063952_43067607)dup
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NC_000017.11:g.(43063952_43067607)_(43067696_43070927)del
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NC_000017.11:g.(43063952_43067607)_(43071239_43074330)del
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NC_000017.11:g.(43063952_43067607)_(43076615_43082403)del
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NC_000017.11:g.(43071239_43074330)_(43082576_43090943)del
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NC_000017.11:g.(43071239_43074330)_(43115780_43124016)del
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NC_000017.11:g.(43074522_43076487)_(43076615_43082403)del
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NC_000017.11:g.(43082576_43090943)_(43097290_43099774)del
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NC_000017.11:g.(43099881_43104121)_(43125484_?)del
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NC_000017.11:g.(43106534_43115725)_(43115780_43124016)del
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NC_000017.11:g.(43106534_43115725)_(43115780_43124016)dup
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NC_000017.11:g.(43115780_43124016)_(43124116_43125270)del
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NC_000017.11:g.(?_43044294)_(43045803_43047642)del
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NC_000017.11:g.(?_43044294)_(43124116_43125270)del
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NC_000017.11:g.(?_43044294)_(43124116_43125270)dup
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NC_000017.11:g.(?_43044294)_(43125484_?)del
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NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
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NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
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NC_000018.9:g.(44181431_44184068)_(44198254_44219578)dup
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NC_000018.9:g.(44222000_44229117)_(44236997_?)dup
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NC_000018.9:g.(48556994_48573289)_48573471dup
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NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del
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NC_000018.9:g.(67742778_67753848)_(67753921_67755224)del
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NC_000018.9:g.(9124982_9126828)_(9126906_9134183)del
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NC_000018.9:g.(?_25530926)_(25532324_25543320)dup
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NC_000018.9:g.(?_55313657)_(55321308_55322425)del
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NC_000018.9:g.77748581_77748614del34
|
rs535089924
|
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NC_000019.10:g.(1207204_1218416)_(1219414_1220372)del
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NC_000019.10:g.7521739_7528168del
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NC_000019.9:g.(11315008_11319361)_(11326604_11327589)del
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NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del
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NC_000019.9:g.(12761037_12762966)_(12763275_12766507)del
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NC_000019.9:g.(17679523_17683291)_(17693967_?)del
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NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del
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NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del
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NC_000019.9:g.(36337097_36338942)_(36340556_36341265)del
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NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
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NC_000019.9:g.(44015719_44030352)_(44031409_?)dup
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NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
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NC_000019.9:g.(46057170_46087880)_(46088123_?)del
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NC_000019.9:g.(50204113_50204573)_(50204892_50207966)del
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NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del
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NC_000019.9:g.(?_1205797)_(1223172_1226452)del
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NC_000019.9:g.(?_1397025)_1397484del
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NC_000019.9:g.(?_15160290)_(15164770_15165968)del
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NC_000019.9:g.(?_17448325)_(17450409_17451852)dup
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NC_000019.9:g.(?_17448325)_(17452132_17452286)dup
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NC_000019.9:g.(?_17448361)_(17450409_17451852)dup
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NC_000019.9:g.(?_29696226)_(29704059_?)del
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NC_000019.9:g.(?_30189943)_(30205968_?)del
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NC_000019.9:g.(?_42785739)_(42791254_?)del
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NC_000019.9:g.(?_44010870)_(44013017_44015588)del
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NC_000019.9:g.(?_44232134)_(44259115_?)del
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NC_000019.9:g.(?_45854648)_(45873846_?)dup
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NC_000019.9:g.(?_7112275)_(7123001_7125293)dup
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NC_000019.9:g.(?_917332)_(921006_?)del
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NC_000020.10:g.(3194705_3195926)_(3195959_3199162)del
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NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
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NC_000020.10:g.(35575208_35579838)_(35580247_?)del
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NC_000020.10:g.(?_3190005)_(3204517_?)dup
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NC_000020.10:g.(?_3869569)_(3893282_3897573)dup
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NC_000020.10:g.(?_5279863)_(5283383_5294557)del
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NC_000021.8:g.(?_46825079)_(46933635_?)dup
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NC_000021.8:g.(?_46932478)_(46962355_?)dup
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NC_000022.10:g.(29083975_29085122)_(29085204_29090019)del
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NC_000022.10:g.(29083975_29085122)_(29085204_29090019)dup
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NC_000022.10:g.(29115474_29120964)_(29121356_29130390)del
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NC_000022.10:g.(29121356_29130390)_(29137823_?)del
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NC_000022.10:g.(38122511_38129304)_(38168772_38169789)dup
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NC_000022.10:g.(50500087_50502462)_(50524359_?)dup
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NC_000022.10:g.(?_18074901)_(18111589_?)del
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NC_000022.10:g.(?_18900293)_(18923807_?)del
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NC_000022.10:g.(?_29083730)_(29085204_29090019)dup
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NC_000022.10:g.(?_29083730)_(29121356_29130390)dup
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NC_000022.10:g.(?_36677322)_(36712715_36714251)dup
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NC_000022.10:g.(?_36677325)_(36712715_36714251)dup
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NC_000022.10:g.(?_36677325)_(36714371_36715584)dup
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NC_000022.10:g.(?_36863092)_(36877688_?)dup
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NC_000022.10:g.32217598_(32218777_32229900)del
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NC_000022.11:g.(28695874_28696900)_(28699938_28703504)del
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NC_000023.10:g.(100656798_100658798)_(100658974_100662697)dup
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NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
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NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del
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NC_000023.10:g.(154091503_154124351)_(154227876_154250684)dup
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NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del
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NC_000023.10:g.(154159952_154175972)_(154197828_154212961)del
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NC_000023.10:g.(154754294_154774756)_(154774939_154842452)del
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NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
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NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
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NC_000023.10:g.(31144791_31152218)_(31152312_31164407)dup
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NC_000023.10:g.(31144791_31152218)_(31165636_31187559)dup
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NC_000023.10:g.(31165636_31187559)_(31187719_31190464)dup
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NC_000023.10:g.(31165636_31187559)_(31196088_31196785)dup
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NC_000023.10:g.(31191722_31196048)_(31196088_31196785)del
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NC_000023.10:g.(31191722_31196048)_(31196088_31196785)dup
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NC_000023.10:g.(31196923_31198486)_(31198599_31200854)dup
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NC_000023.10:g.(31201022_31222077)_(31222236_31224698)dup
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NC_000023.10:g.(31241239_31279071)_(31462745_31496222)dup
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NC_000023.10:g.(31241239_31279071)_(31792310_31838091)dup
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NC_000023.10:g.(31279134_31341714)_(31341776_31366672)dup
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NC_000023.10:g.(31279134_31341714)_(31645980_31676106)dup
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NC_000023.10:g.(31366752_31462597)_(31497221_31514904)del
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NC_000023.10:g.(31366752_31462597)_(31525571_31645789)dup
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NC_000023.10:g.(31366752_31462597)_(31645980_31676106)dup
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NC_000023.10:g.(31366752_31462597)_(31838201_31854834)dup
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NC_000023.10:g.(31366752_31462597)_(31986632_32235032)dup
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NC_000023.10:g.(31462745_31496222)_(31525571_31645789)dup
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NC_000023.10:g.(31496492_31497099)_(31854937_31893304)del
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NC_000023.10:g.(31525571_31645789)_(31645980_31676106)dup
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NC_000023.10:g.(31525571_31645789)_(31838201_31854834)dup
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NC_000023.10:g.(31525571_31645789)_(31854937_31893304)del
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NC_000023.10:g.(31525571_31645789)_(31893491_31947712)del
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NC_000023.10:g.(31525571_31645789)_(31986632_32235032)dup
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NC_000023.10:g.(31525571_31645789)_(32383317_32398626)dup
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NC_000023.10:g.(31525571_31645789)_(32867938_33038255)del
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NC_000023.10:g.(31645980_31676106)_(31747866_31792076)del
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NC_000023.10:g.(31645980_31676106)_(31950345_31986455)del
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NC_000023.10:g.(31645980_31676106)_(31986632_32235032)del
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NC_000023.10:g.(31676262_31697491)_(31854937_31893304)del
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NC_000023.10:g.(31676262_31697491)_(31986632_32235032)del
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NC_000023.10:g.(31676262_31697491)_(32305819_32328198)dup
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NC_000023.10:g.(31697704_31747747)_(31747866_31792076)del
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NC_000023.10:g.(31697704_31747747)_(31854937_31893304)del
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NC_000023.10:g.(31697704_31747747)_(31893491_31947712)del
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NC_000023.10:g.(31697704_31747747)_(31986632_32235032)del
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NC_000023.10:g.(31747866_31792076)_(31947863_31950196)del
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NC_000023.10:g.(31747866_31792076)_(31950345_31986455)del
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NC_000023.10:g.(31747866_31792076)_(31986632_32235032)dup
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|
|
NC_000023.10:g.(31747866_31792076)_(32430031_32456357)del
|
|
|
|
NC_000023.10:g.(31792310_31838091)_(31854937_31893304)dup
|
|
|
|
NC_000023.10:g.(31792310_31838091)_(31893491_31947712)del
|
|
|
|
NC_000023.10:g.(31792310_31838091)_(31947863_31950196)del
|
|
|
|
NC_000023.10:g.(31792310_31838091)_(31986632_32235032)del
|
|
|
|
NC_000023.10:g.(31792310_31838091)_(32490427_32503035)dup
|
|
|
|
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)del
|
|
|
|
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)dup
|
|
|
|
NC_000023.10:g.(31838201_31854834)_(31950345_31986455)dup
|
|
|
|
NC_000023.10:g.(31838201_31854834)_(31986632_32235032)dup
|
|
|
|
NC_000023.10:g.(31854937_31893304)_(31950345_31986455)del
|
|
|
|
NC_000023.10:g.(31854937_31893304)_(31986632_32235032)del
|
|
|
|
NC_000023.10:g.(31854937_31893304)_(32235181_32305645)dup
|
|
|
|
NC_000023.10:g.(31854937_31893304)_(32305819_32328198)del
|
|
|
|
NC_000023.10:g.(31893491_31947712)_(31950345_31986455)del
|
|
|
|
NC_000023.10:g.(31947863_31950196)_(31950345_31986455)dup
|
|
|
|
NC_000023.10:g.(31986632_32235032)_(32383317_32398626)del
|
|
|
|
NC_000023.10:g.(31986632_32235032)_(32519960_32536124)dup
|
|
|
|
NC_000023.10:g.(32235181_32305645)_(32305819_32328198)dup
|
|
|
|
NC_000023.10:g.(32235181_32305645)_(32490427_32503035)del
|
|
|
|
NC_000023.10:g.(32235181_32305645)_(32563452_32583818)dup
|
|
|
|
NC_000023.10:g.(32305819_32328198)_(32328394_32360216)dup
|
|
|
|
NC_000023.10:g.(32305819_32328198)_(32364198_32366522)del
|
|
|
|
NC_000023.10:g.(32328394_32360216)_(32360400_32361250)dup
|
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)del
|
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)dup
|
|
|
|
NC_000023.10:g.(32328394_32360216)_(32398798_32404426)dup
|
|
|
|
NC_000023.10:g.(32328394_32360216)_(32408299_32429868)del
|
|
|
|
NC_000023.10:g.(32328394_32360216)_(32536249_32563275)del
|
|
|
|
NC_000023.10:g.(32366646_32380904)_(32430031_32456357)dup
|
|
|
|
NC_000023.10:g.(32381076_32382698)_(32382828_32383136)dup
|
|
|
|
NC_000023.10:g.(32381076_32382698)_(32663270_32715986)del
|
|
|
|
NC_000023.10:g.(32382828_32383136)_(32383317_32398626)dup
|
|
|
|
NC_000023.10:g.(32383317_32398626)_(32398798_32404426)dup
|
|
|
|
NC_000023.10:g.(32398798_32404426)_(32717411_32827609)del
|
|
|
|
NC_000023.10:g.(32407792_32408187)_(32408299_32429868)dup
|
|
|
|
NC_000023.10:g.(32408299_32429868)_(32563452_32583818)dup
|
|
|
|
NC_000023.10:g.(32408299_32429868)_(32827729_32834584)dup
|
|
|
|
NC_000023.10:g.(32408299_32429868)_(33038318_33229398)del
|
|
|
|
NC_000023.10:g.(32430031_32456357)_(32519960_32536124)del
|
|
|
|
NC_000023.10:g.(32430031_32456357)_(32563452_32583818)del
|
|
|
|
NC_000023.10:g.(32456508_32459296)_(32459432_32466572)dup
|
|
|
|
NC_000023.10:g.(32459432_32466572)_(32503217_32509393)del
|
|
|
|
NC_000023.10:g.(32459432_32466572)_(32663270_32715986)dup
|
|
|
|
NC_000023.10:g.(32466756_32472778)_(32472950_32481555)dup
|
|
|
|
NC_000023.10:g.(32486828_32490280)_(32490427_32503035)dup
|
|
|
|
NC_000023.10:g.(32509636_32519871)_(32717411_32827609)del
|
|
|
|
NC_000023.10:g.(32519960_32536124)_(32862978_32867844)del
|
|
|
|
NC_000023.10:g.(32519960_32536124)_(33229674_?)del
|
|
|
|
NC_000023.10:g.(32536249_32563275)_(32563452_32583818)dup
|
|
|
|
NC_000023.10:g.(32536249_32563275)_(32834758_32841411)del
|
|
|
|
NC_000023.10:g.(32563452_32583818)_(32613994_32632419)dup
|
|
|
|
NC_000023.10:g.(32591964_32613873)_(32613994_32632419)dup
|
|
|
|
NC_000023.10:g.(32591964_32613873)_(32632571_32662248)dup
|
|
|
|
NC_000023.10:g.(32613994_32632419)_(32632571_32662248)dup
|
|
|
|
NC_000023.10:g.(32613994_32632419)_(32663270_32715986)dup
|
|
|
|
NC_000023.10:g.(32632571_32662248)_(32867938_33038255)del
|
|
|
|
NC_000023.10:g.(32663270_32715986)_(32716116_32717228)del
|
|
|
|
NC_000023.10:g.(32663270_32715986)_(32717411_32827609)del
|
|
|
|
NC_000023.10:g.(32663270_32715986)_(32867938_33038255)del
|
|
|
|
NC_000023.10:g.(32717411_32827609)_(32827729_32834584)dup
|
|
|
|
NC_000023.10:g.(32717411_32827609)_(32867938_33038255)del
|
|
|
|
NC_000023.10:g.(32717411_32827609)_(33229674_?)dup
|
|
|
|
NC_000023.10:g.(32827729_32834584)_(32867938_33038255)del
|
|
|
|
NC_000023.10:g.(32834758_32841411)_(33038318_33229398)del
|
|
|
|
NC_000023.10:g.(32841505_32862899)_(32867938_33038255)del
|
|
|
|
NC_000023.10:g.(32862978_32867844)_(32867938_33038255)dup
|
|
|
|
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)del
|
|
|
|
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)dup
|
|
|
|
NC_000023.10:g.(32867938_33038255)_(33229674_?)dup
|
|
|
|
NC_000023.10:g.(33038318_33229398)_(33229674_?)dup
|
|
|
|
NC_000023.10:g.(595562_601555)_(607559_?)dup
|
|
|
|
NC_000023.10:g.(66766605_66863097)_(66863250_66905851)del
|
|
|
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
|
|
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
|
|
|
|
NC_000023.10:g.(77284942_77286897)_(77289271_77294333)del
|
|
|
|
NC_000023.10:g.(?_119560002)_(119603205_?)del
|
|
|
|
NC_000023.10:g.(?_135229558)_(135293519_?)dup
|
|
|
|
NC_000023.10:g.(?_13752866)_(13757152_13762533)del
|
|
|
|
NC_000023.10:g.(?_14861528)_(14891192_?)dup
|
|
|
|
NC_000023.10:g.(?_151999510)_(152037908_?)dup
|
|
|
|
NC_000023.10:g.(?_153287263)_(153296026_153296261)del
|
|
|
|
NC_000023.10:g.(?_153287263)_(153298009_153357641)del
|
|
|
|
NC_000023.10:g.(?_153287263)_(153363189_?)del
|
|
|
|
NC_000023.10:g.(?_153287263)_(153363189_?)dup
|
|
|
|
NC_000023.10:g.(?_20168028)_(20285028_?)dup
|
|
|
|
NC_000023.10:g.(?_31137344)_(31152312_31164407)dup
|
|
|
|
NC_000023.10:g.(?_31137344)_(31191722_31196048)dup
|
|
|
|
NC_000023.10:g.(?_31137344)_(31241239_31279071)dup
|
|
|
|
NC_000023.10:g.(?_31137344)_(31279134_31341714)dup
|
|
|
|
NC_000023.10:g.(?_31137344)_(31341776_31366672)dup
|
|
|
|
NC_000023.10:g.(?_31137344)_(31497221_31514904)dup
|
|
|
|
NC_000023.10:g.(?_31137344)_(31645980_31676106)dup
|
|
|
|
NC_000023.10:g.(?_37639269)_(37672715_?)dup
|
|
|
|
NC_000023.10:g.(?_46696346)_(46741794_?)dup
|
|
|
|
NC_000023.10:g.(?_5808066)_(5827281_5947320)dup
|
|
|
|
NC_000023.10:g.(?_585078)_(595562_601555)dup
|
|
|
|
NC_000023.10:g.(?_585078)_(607559_?)dup
|
|
|
|
NC_000023.10:g.(?_73641327)_(73753765_?)dup
|
|
|
|
NC_000023.10:g.(?_76760355)_(76777867_76778729)dup
|
|
|
|
NC_000023.10:g.(?_77081860)_(77131095_77150805)dup
|
|
|
|
NC_000023.10:g.71800926_(71804153_71812953)del
|
|
|
|
NC_000023.11:g.(31147519_31169442)_(31658145_31679374)dup
|
|
|
|
NC_000023.11:g.(31496945_31507280)_(31507454_31627672)del
|
|
|
|
NC_000023.11:g.(31507454_31627672)_(31729749_31773959)del
|
|
|
|
NC_000023.11:g.(31507454_31627672)_(31968515_32216915)del
|
|
|
|
NC_000023.11:g.(31627863_31657989)_(31836820_31875187)del
|
|
|
|
NC_000023.11:g.(31679587_31729630)_(31774193_31819974)del
|
|
|
|
NC_000023.11:g.(31679587_31729630)_(31968515_32216915)dup
|
|
|
|
NC_000023.11:g.(31729749_31773959)_(31774193_31819974)del
|
|
|
|
NC_000023.11:g.(31729749_31773959)_(31836820_31875187)del
|
|
|
|
NC_000023.11:g.(31729749_31773959)_(31875374_31929595)del
|
|
|
|
NC_000023.11:g.(31729749_31773959)_(31968515_32216915)del
|
|
|
|
NC_000023.11:g.(31774193_31819974)_(31820084_31836717)del
|
|
|
|
NC_000023.11:g.(31774193_31819974)_(31836820_31875187)del
|
|
|
|
NC_000023.11:g.(31820084_31836717)_(31836820_31875187)del
|
|
|
|
NC_000023.11:g.(31836820_31875187)_(31875374_31929595)del
|
|
|
|
NC_000023.11:g.(31875374_31929595)_(31929746_31932079)del
|
|
|
|
NC_000023.11:g.(31875374_31929595)_(31968515_32216915)del
|
|
|
|
NC_000023.11:g.(31932228_31968338)_(32699294_32809492)del
|
|
|
|
NC_000023.11:g.(31968515_32216915)_(32217064_32287528)del
|
|
|
|
NC_000023.11:g.(32217064_32287528)_(32310277_32342099)del
|
|
|
|
NC_000023.11:g.(32491519_32501754)_(32573847_32595756)del
|
|
|
|
NC_000023.11:g.(32614454_32644131)_(32645153_32697869)del
|
|
|
|
NC_000023.11:g.(?_101397790)_(101398947_101400665)del
|
|
|
|
NC_000023.11:g.(?_31119227)_(31348635_31444480)dup
|
|
|
|
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)
|
rs1323513432
|
|
|
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)
|
rs760335676
|
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
|
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)
|
rs875989877
|
|
|
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp)
|
|
|
|
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)
|
rs1553127382
|
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
|
NM_000016.6(ACADM):c.19C>T (p.Arg7Ter)
|
rs1455996178
|
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
|
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)
|
rs398123075
|
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
|
NM_000016.6(ACADM):c.387+1G>A
|
rs1057516983
|
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
|
NM_000016.6(ACADM):c.388-12_388-10del
|
rs398123076
|
|
|
NM_000016.6(ACADM):c.431_434del (p.Lys144fs)
|
rs1057517356
|
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
|
NM_000016.6(ACADM):c.454G>T (p.Glu152Ter)
|
rs1557446524
|
|
|
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)
|
rs200754053
|
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
|
NM_000016.6(ACADM):c.631C>T (p.Pro211Ser)
|
rs2100408048
|
|
|
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
|
|
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
|
NM_000016.6(ACADM):c.683C>T (p.Thr228Ile)
|
rs149678400
|
|
|
NM_000016.6(ACADM):c.708+6G>T
|
rs958629659
|
|
|
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)
|
rs769906625
|
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
|
NM_000016.6(ACADM):c.905A>G (p.Tyr302Cys)
|
|
|
|
NM_000016.6(ACADM):c.913G>T (p.Glu305Ter)
|
rs1215335509
|
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
|
NM_000016.6(ACADM):c.[351A>C;362C>T]
|
|
|
|
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp)
|
rs375931905
|
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr)
|
rs765604622
|
|
|
NM_000017.4(ACADS):c.879C>T (p.Tyr293=)
|
|
|
|
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)
|
rs796051906
|
|
|
NM_000018.4(ACADVL):c.104del (p.Pro35fs)
|
rs1443151475
|
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
|
NM_000018.4(ACADVL):c.1183-7A>G
|
rs750441118
|
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
|
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)
|
rs2071395559
|
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
|
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)
|
rs2071227581
|
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
|
NM_000018.4(ACADVL):c.62+1G>A
|
rs2071111529
|
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
|
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)
|
rs2071256607
|
|
|
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)
|
rs1555528320
|
|
|
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)
|
rs761204548
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
|
NM_000019.4(ACAT1):c.*6dup
|
rs111390656
|
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
|
NM_000019.4(ACAT1):c.238+2T>C
|
|
|
|
NM_000019.4(ACAT1):c.401T>C (p.Met134Thr)
|
|
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
|
NM_000019.4(ACAT1):c.613A>C (p.Asn205His)
|
rs748135542
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
|
NM_000019.4(ACAT1):c.730+6G>C
|
|
|
|
NM_000019.4(ACAT1):c.826+85_826+86insGTAA
|
rs10682490
|
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
|
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)
|
rs863223415
|
|
|
NM_000021.4(PSEN1):c.1132G>A (p.Gly378Arg)
|
|
|
|
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
|
rs63751316
|
|
|
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)
|
rs63750083
|
|
|
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)
|
rs63750450
|
|
|
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)
|
rs63751278
|
|
|
NM_000021.4(PSEN1):c.485T>C (p.Ile162Thr)
|
|
|
|
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
|
rs1898533739
|
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
|
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)
|
rs63750231
|
|
|
NM_000021.4(PSEN1):c.869-6C>T
|
|
|
|
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
|
|
|
|
NM_000022.4(ADA):c.1079-1G>A
|
|
|
|
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)
|
rs121908714
|
|
|
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)
|
rs1452483770
|
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
|
NM_000022.4(ADA):c.872C>G (p.Ser291Trp)
|
rs121908721
|
|
|
NM_000022.4(ADA):c.95+1G>A
|
rs778343059
|
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
|
NM_000022.4(ADA):c.975+1G>A
|
rs2065325898
|
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|
|
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
|
|
|
|
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)
|
rs773161308
|
|
|
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
|
|
|
|
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
|
NM_000023.4(SGCA):c.304G>A (p.Val102Ile)
|
rs1266940329
|
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
|
NM_000023.4(SGCA):c.730T>A (p.Trp244Arg)
|
|
|
|
NM_000023.4(SGCA):c.747+21C>T
|
|
|
|
NM_000023.4(SGCA):c.85dup (p.His29fs)
|
|
|
|
NM_000026.4(ADSL):c.482+1G>C
|
|
|
|
NM_000027.4(AGA):c.1007del (p.Asn336fs)
|
|
|
|
NM_000027.4(AGA):c.101_107del (p.Trp34fs)
|
rs759063638
|
|
|
NM_000027.4(AGA):c.214T>C (p.Ser72Pro)
|
rs121964909
|
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
|
NM_000027.4(AGA):c.392C>T (p.Ser131Leu)
|
|
|
|
NM_000027.4(AGA):c.39del (p.Leu15fs)
|
|
|
|
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000027.4(AGA):c.508-2A>C
|
|
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
|
NM_000030.2:c.165+15_166-18dup
|
|
|
|
NM_000030.3(AGXT):c.1168_1169del (p.Lys390fs)
|
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
|
NM_000030.3(AGXT):c.165+16A>G
|
rs66494441
|
|
|
NM_000030.3(AGXT):c.165+19_166-48dup
|
rs180177174
|
|
|
NM_000030.3(AGXT):c.165+1G>T
|
|
|
|
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
|
|
|
|
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)
|
rs180177190
|
|
|
NM_000030.3(AGXT):c.307G>T (p.Gly103Trp)
|
|
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
|
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)
|
rs180177202
|
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
|
NM_000030.3(AGXT):c.385G>A (p.Asp129Asn)
|
rs180177212
|
|
|
NM_000030.3(AGXT):c.385G>C (p.Asp129His)
|
rs180177212
|
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
|
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter)
|
rs180177232
|
|
|
NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)
|
|
|
|
NM_000030.3(AGXT):c.570del (p.Thr191fs)
|
rs180177240
|
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
|
NM_000030.3(AGXT):c.577dup (p.Leu193fs)
|
rs180177241
|
|
|
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)
|
rs180177248
|
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
|
NM_000030.3(AGXT):c.680+1G>A
|
rs111996685
|
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
|
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)
|
rs180177273
|
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
|
NM_000032.5(ALAS2):c.415+16T>A
|
|
|
|
NM_000033.4(ABCD1):c.*208G>C
|
rs193922092
|
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
|
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
|
|
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
|
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
|
|
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
|
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)
|
rs193922094
|
|
|
NM_000033.4(ABCD1):c.1634+13G>A
|
|
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
|
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
|
|
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
|
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
|
|
|
|
NM_000033.4(ABCD1):c.314C>T (p.Thr105Ile)
|
rs2148388980
|
|
|
NM_000033.4(ABCD1):c.347G>A (p.Gly116Glu)
|
rs2091705857
|
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
|
NM_000033.4(ABCD1):c.688C>T (p.Leu230Phe)
|
rs2148389639
|
|
|
NM_000033.4(ABCD1):c.712G>A (p.Ala238Thr)
|
|
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
|
NM_000033.4(ABCD1):c.900+2T>C
|
rs2091712381
|
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
|
NM_000035.4(ALDOB):c.541-277_651del
|
|
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
|
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)
|
rs764701775
|
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
|
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
|
|
|
|
NM_000037.4(ANK1):c.4642G>C (p.Asp1548His)
|
|
|
|
NM_000038.5(APC):c.(?_-37541)_(-27791_?)del
|
|
|
|
NM_000038.6(APC):c.1100C>G (p.Ser367Cys)
|
rs1554080012
|
|
|
NM_000038.6(APC):c.1115A>G (p.Asn372Ser)
|
rs1580529465
|
|
|
NM_000038.6(APC):c.1120C>T (p.Arg374Trp)
|
rs947634162
|
|
|
NM_000038.6(APC):c.1178C>G (p.Ser393Ter)
|
rs1114167545
|
|
|
NM_000038.6(APC):c.1206_1207del (p.Glu403fs)
|
rs1762855243
|
|
|
NM_000038.6(APC):c.1234C>G (p.Gln412Glu)
|
rs876660802
|
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
|
NM_000038.6(APC):c.1312+5G>A
|
rs886039507
|
|
|
NM_000038.6(APC):c.1313-1G>T
|
rs2149791738
|
|
|
NM_000038.6(APC):c.1318G>A (p.Ala440Thr)
|
rs1064793023
|
|
|
NM_000038.6(APC):c.1319C>G (p.Ala440Gly)
|
rs1561545834
|
|
|
NM_000038.6(APC):c.1321C>G (p.Pro441Ala)
|
rs1444245614
|
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
|
NM_000038.6(APC):c.1366C>T (p.Leu456Phe)
|
rs876660195
|
|
|
NM_000038.6(APC):c.1412G>T (p.Gly471Val)
|
rs1191271600
|
|
|
NM_000038.6(APC):c.1440A>C (p.Gln480His)
|
rs863224537
|
|
|
NM_000038.6(APC):c.1440A>T (p.Gln480His)
|
rs863224537
|
|
|
NM_000038.6(APC):c.1446C>G (p.Asp482Glu)
|
rs1763766928
|
|
|
NM_000038.6(APC):c.1466_1467del (p.Thr489fs)
|
rs1763774140
|
|
|
NM_000038.6(APC):c.146A>C (p.Lys49Thr)
|
rs587781587
|
|
|
NM_000038.6(APC):c.1477_1478dup (p.Ser494fs)
|
|
|
|
NM_000038.6(APC):c.147_150del (p.Lys49fs)
|
rs587781694
|
|
|
NM_000038.6(APC):c.1481G>A (p.Ser494Asn)
|
rs1554081691
|
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
|
NM_000038.6(APC):c.1499_1500dup (p.Ala501fs)
|
|
|
|
NM_000038.6(APC):c.1500del (p.Arg499_Tyr500insTer)
|
rs2149809839
|
|
|
NM_000038.6(APC):c.1505G>T (p.Gly502Val)
|
|
|
|
NM_000038.6(APC):c.1514del (p.Ala504_Leu505insTer)
|
|
|
|
NM_000038.6(APC):c.1530del (p.Phe510fs)
|
|
|
|
NM_000038.6(APC):c.1530dup (p.Gly511fs)
|
rs1554081749
|
|
|
NM_000038.6(APC):c.1579A>G (p.Arg527Gly)
|
rs751120046
|
|
|
NM_000038.6(APC):c.1626+6A>G
|
rs1197354854
|
|
|
NM_000038.6(APC):c.168A>G (p.Glu56=)
|
rs1554069532
|
|
|
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)
|
rs137854574
|
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
|
NM_000038.6(APC):c.1873C>T (p.Gln625Ter)
|
rs876659517
|
|
|
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs)
|
rs863225319
|
|
|
NM_000038.6(APC):c.1912A>G (p.Ile638Val)
|
rs75117039
|
|
|
NM_000038.6(APC):c.193C>A (p.Gln65Lys)
|
rs863225320
|
|
|
NM_000038.6(APC):c.1958+1_1958+2dup
|
rs1561569606
|
|
|
NM_000038.6(APC):c.1958+2T>G
|
rs2149844646
|
|
|
NM_000038.6(APC):c.1958+3A>G
|
rs879254032
|
|
|
NM_000038.6(APC):c.195G>C (p.Gln65His)
|
rs1554069548
|
|
|
NM_000038.6(APC):c.1962A>G (p.Gln654=)
|
rs1057523515
|
|
|
NM_000038.6(APC):c.1977C>A (p.Asn659Lys)
|
rs1561574172
|
|
|
NM_000038.6(APC):c.2031C>T (p.Val677=)
|
rs769363082
|
|
|
NM_000038.6(APC):c.2053_2054del (p.Trp685fs)
|
rs2149859523
|
|
|
NM_000038.6(APC):c.2074C>G (p.Pro692Ala)
|
|
|
|
NM_000038.6(APC):c.211C>A (p.Arg71Ser)
|
rs767741687
|
|
|
NM_000038.6(APC):c.2130C>T (p.Leu710=)
|
rs1057521787
|
|
|
NM_000038.6(APC):c.2161_2170del (p.Gly721fs)
|
rs1554083981
|
|
|
NM_000038.6(APC):c.2188A>G (p.Met730Val)
|
rs1580619095
|
|
|
NM_000038.6(APC):c.2204dup (p.Lys736fs)
|
|
|
|
NM_000038.6(APC):c.220G>C (p.Glu74Gln)
|
rs876658941
|
|
|
NM_000038.6(APC):c.221-5T>C
|
rs1057524155
|
|
|
NM_000038.6(APC):c.233_236del (p.Asp78fs)
|
rs1064793020
|
|
|
NM_000038.6(APC):c.2346G>A (p.Lys782=)
|
rs1554084084
|
|
|
NM_000038.6(APC):c.234T>G (p.Asp78Glu)
|
rs765434321
|
|
|
NM_000038.6(APC):c.2377C>T (p.Gln793Ter)
|
rs2149867683
|
|
|
NM_000038.6(APC):c.2383C>A (p.Leu795Ile)
|
rs1442780982
|
|
|
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs)
|
rs1561576666
|
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
|
NM_000038.6(APC):c.2419GAT[1] (p.Asp808del)
|
rs587781469
|
|
|
NM_000038.6(APC):c.2434G>C (p.Asp812His)
|
rs761178697
|
|
|
NM_000038.6(APC):c.2449G>A (p.Gly817Ser)
|
rs1169702353
|
|
|
NM_000038.6(APC):c.2483C>T (p.Thr828Ile)
|
rs786203696
|
|
|
NM_000038.6(APC):c.2503T>C (p.Ser835Pro)
|
rs748302469
|
|
|
NM_000038.6(APC):c.250G>A (p.Gly84Arg)
|
|
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
|
NM_000038.6(APC):c.2552G>A (p.Ser851Asn)
|
rs1554084260
|
|
|
NM_000038.6(APC):c.2589C>T (p.Tyr863=)
|
rs1561578229
|
|
|
NM_000038.6(APC):c.2593C>G (p.Pro865Ala)
|
rs192620988
|
|
|
NM_000038.6(APC):c.2655C>T (p.Ala885=)
|
rs1554084348
|
|
|
NM_000038.6(APC):c.2707G>A (p.Asp903Asn)
|
rs587782610
|
|
|
NM_000038.6(APC):c.2775C>T (p.Ser925=)
|
rs864622701
|
|
|
NM_000038.6(APC):c.2812A>G (p.Thr938Ala)
|
rs965844436
|
|
|
NM_000038.6(APC):c.2840G>T (p.Cys947Phe)
|
rs997271472
|
|
|
NM_000038.6(APC):c.2870A>C (p.Lys957Thr)
|
rs777881096
|
|
|
NM_000038.6(APC):c.288T>A (p.Tyr96Ter)
|
rs376213437
|
|
|
NM_000038.6(APC):c.288T>G (p.Tyr96Ter)
|
rs376213437
|
|
|
NM_000038.6(APC):c.2923A>G (p.Lys975Glu)
|
rs780597635
|
|
|
NM_000038.6(APC):c.2943del (p.Ser982fs)
|
rs2149880739
|
|
|
NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs)
|
rs1554084650
|
|
|
NM_000038.6(APC):c.3045T>C (p.Asp1015=)
|
rs1554084657
|
|
|
NM_000038.6(APC):c.3125G>C (p.Ser1042Thr)
|
rs786203919
|
|
|
NM_000038.6(APC):c.3151A>C (p.Arg1051=)
|
rs757981620
|
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
|
NM_000038.6(APC):c.3184_3187del (p.Gln1062fs)
|
rs1114167551
|
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
|
NM_000038.6(APC):c.3258_3259del (p.Leu1087fs)
|
|
|
|
NM_000038.6(APC):c.3304del (p.Tyr1102fs)
|
|
|
|
NM_000038.6(APC):c.3329C>G (p.Ser1110Ter)
|
rs1580634079
|
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
|
NM_000038.6(APC):c.3366_3369del (p.Asn1122fs)
|
rs1580634573
|
|
|
NM_000038.6(APC):c.3420T>C (p.Pro1140=)
|
rs2149891576
|
|
|
NM_000038.6(APC):c.3425A>G (p.Asn1142Ser)
|
rs138410865
|
|
|
NM_000038.6(APC):c.3443_3444insG (p.Ser1148_Glu1149insTer)
|
rs2149892043
|
|
|
NM_000038.6(APC):c.3445GAA[2] (p.Glu1151del)
|
rs761327787
|
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
|
NM_000038.6(APC):c.3469G>C (p.Glu1157Gln)
|
rs1554085038
|
|
|
NM_000038.6(APC):c.350C>A (p.Ser117Ter)
|
rs1064793535
|
|
|
NM_000038.6(APC):c.3535T>C (p.Tyr1179His)
|
rs751249843
|
|
|
NM_000038.6(APC):c.3581C>A (p.Ser1194Ter)
|
rs2149894857
|
|
|
NM_000038.6(APC):c.358A>G (p.Arg120Gly)
|
rs876659470
|
|
|
NM_000038.6(APC):c.3607G>C (p.Gly1203Arg)
|
rs1057518472
|
|
|
NM_000038.6(APC):c.3612A>G (p.Gln1204=)
|
rs864622196
|
|
|
NM_000038.6(APC):c.3757del (p.Ser1253fs)
|
rs1114167571
|
|
|
NM_000038.6(APC):c.3775A>T (p.Ile1259Leu)
|
rs762391822
|
|
|
NM_000038.6(APC):c.3783T>A (p.Thr1261=)
|
rs1765520410
|
|
|
NM_000038.6(APC):c.3783_3784del (p.Tyr1262fs)
|
rs1554085303
|
|
|
NM_000038.6(APC):c.3803dup (p.Ile1269fs)
|
|
|
|
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)
|
rs863225347
|
|
|
NM_000038.6(APC):c.3837T>G (p.Ser1279=)
|
rs1057522493
|
|
|
NM_000038.6(APC):c.3837_3845dup (p.1277_1279LSS[3])
|
rs1561587936
|
|
|
NM_000038.6(APC):c.3854_3855dup (p.Glu1286fs)
|
rs1561588017
|
|
|
NM_000038.6(APC):c.3875_3882delinsAGATGAAATAGGATGTAAGCA (p.Thr1292_Gln1294delinsLysMetLysTer)
|
rs1765543308
|
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
|
NM_000038.6(APC):c.3957T>A (p.Pro1319=)
|
rs773123653
|
|
|
NM_000038.6(APC):c.4054_4063del (p.Val1352fs)
|
rs1561589459
|
|
|
NM_000038.6(APC):c.4082C>T (p.Pro1361Leu)
|
rs1060503264
|
|
|
NM_000038.6(APC):c.4088A>G (p.Lys1363Arg)
|
rs373607243
|
|
|
NM_000038.6(APC):c.4091GTG[1] (p.Gly1365del)
|
rs1580643938
|
|
|
NM_000038.6(APC):c.4110A>T (p.Lys1370Asn)
|
rs876660867
|
|
|
NM_000038.6(APC):c.4147A>G (p.Met1383Val)
|
rs1064793836
|
|
|
NM_000038.6(APC):c.417A>G (p.Lys139=)
|
rs1554069848
|
|
|
NM_000038.6(APC):c.4200G>A (p.Ser1400=)
|
rs367782881
|
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
|
NM_000038.6(APC):c.4225C>A (p.Pro1409Thr)
|
rs1554085637
|
|
|
NM_000038.6(APC):c.4240G>C (p.Val1414Leu)
|
rs755300914
|
|
|
NM_000038.6(APC):c.4252A>T (p.Ile1418Leu)
|
rs777386397
|
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
|
NM_000038.6(APC):c.4279C>G (p.Pro1427Ala)
|
rs876658499
|
|
|
NM_000038.6(APC):c.4317T>A (p.Pro1439=)
|
rs769586752
|
|
|
NM_000038.6(APC):c.4320A>T (p.Pro1440=)
|
rs1561591372
|
|
|
NM_000038.6(APC):c.4326T>C (p.Pro1442=)
|
rs67622085
|
|
|
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln)
|
rs587782678
|
|
|
NM_000038.6(APC):c.437C>T (p.Ala146Val)
|
rs1305794169
|
|
|
NM_000038.6(APC):c.4462T>G (p.Leu1488Val)
|
rs765730576
|
|
|
NM_000038.6(APC):c.4479_5268del (p.Glu1494fs)
|
rs2149915790
|
|
|
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter)
|
rs756912930
|
|
|
NM_000038.6(APC):c.4508del (p.Ser1503fs)
|
rs1580649018
|
|
|
NM_000038.6(APC):c.450_483del (p.Lys150fs)
|
|
|
|
NM_000038.6(APC):c.4534_7406del (p.Leu1511_Asp1512insTer)
|
|
|
|
NM_000038.6(APC):c.4562A>G (p.Glu1521Gly)
|
rs1765709676
|
|
|
NM_000038.6(APC):c.4647del (p.Glu1550fs)
|
rs879254283
|
|
|
NM_000038.6(APC):c.4668T>C (p.Thr1556=)
|
rs1554086074
|
|
|
NM_000038.6(APC):c.4680A>G (p.Glu1560=)
|
rs1765740199
|
|
|
NM_000038.6(APC):c.4692A>C (p.Leu1564Phe)
|
rs1060503364
|
|
|
NM_000038.6(APC):c.4693G>A (p.Asp1565Asn)
|
rs767138124
|
|
|
NM_000038.6(APC):c.4693G>T (p.Asp1565Tyr)
|
rs767138124
|
|
|
NM_000038.6(APC):c.4704T>C (p.Asp1568=)
|
rs1554086117
|
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
|
NM_000038.6(APC):c.4755A>G (p.Thr1585=)
|
rs2149922960
|
|
|
NM_000038.6(APC):c.4765C>A (p.Arg1589Ser)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4770A>G (p.Lys1590=)
|
rs973476980
|
|
|
NM_000038.6(APC):c.477C>A (p.Tyr159Ter)
|
rs863224281
|
|
|
NM_000038.6(APC):c.477C>G (p.Tyr159Ter)
|
rs863224281
|
|
|
NM_000038.6(APC):c.4813G>C (p.Val1605Leu)
|
rs1554086219
|
|
|
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter)
|
rs774847203
|
|
|
NM_000038.6(APC):c.4865A>G (p.Asn1622Ser)
|
rs2149925864
|
|
|
NM_000038.6(APC):c.4873del (p.Gln1625fs)
|
rs1554086262
|
|
|
NM_000038.6(APC):c.4875del (p.Gln1625fs)
|
rs587779794
|
|
|
NM_000038.6(APC):c.4879C>A (p.Gln1627Lys)
|
rs1554086263
|
|
|
NM_000038.6(APC):c.487C>T (p.Gln163Ter)
|
rs863225362
|
|
|
NM_000038.6(APC):c.4902G>A (p.Pro1634=)
|
rs876659202
|
|
|
NM_000038.6(APC):c.4970dup (p.Ser1658fs)
|
rs1554086340
|
|
|
NM_000038.6(APC):c.4973G>C (p.Ser1658Thr)
|
rs1561596738
|
|
|
NM_000038.6(APC):c.4987G>T (p.Glu1663Ter)
|
rs758987855
|
|
|
NM_000038.6(APC):c.5020G>A (p.Gly1674Arg)
|
rs899555020
|
|
|
NM_000038.6(APC):c.5026_5028del (p.Arg1676del)
|
rs768369050
|
|
|
NM_000038.6(APC):c.506T>C (p.Ile169Thr)
|
rs1757567981
|
|
|
NM_000038.6(APC):c.5097G>A (p.Glu1699=)
|
rs1561597648
|
|
|
NM_000038.6(APC):c.509_512del (p.Asp170fs)
|
rs387906231
|
|
|
NM_000038.6(APC):c.5133del (p.Glu1712fs)
|
|
|
|
NM_000038.6(APC):c.5140G>C (p.Asp1714His)
|
rs148275069
|
|
|
NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs)
|
rs1561598017
|
|
|
NM_000038.6(APC):c.5197C>T (p.Pro1733Ser)
|
rs1441448668
|
|
|
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr)
|
rs1204161988
|
|
|
NM_000038.6(APC):c.5250C>T (p.Val1750=)
|
rs2229997
|
|
|
NM_000038.6(APC):c.5268T>A (p.Ser1756=)
|
rs866006
|
|
|
NM_000038.6(APC):c.531+2T>A
|
rs863225365
|
|
|
NM_000038.6(APC):c.531+9C>G
|
rs1554071622
|
|
|
NM_000038.6(APC):c.5315C>G (p.Pro1772Arg)
|
rs1554086633
|
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
|
NM_000038.6(APC):c.5348C>T (p.Thr1783Ile)
|
rs878853456
|
|
|
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)
|
rs764203580
|
|
|
NM_000038.6(APC):c.537C>A (p.Ser179=)
|
rs149736402
|
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
|
NM_000038.6(APC):c.5465T>G (p.Val1822Gly)
|
rs459552
|
|
|
NM_000038.6(APC):c.5486A>G (p.Asn1829Ser)
|
rs767612847
|
|
|
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)
|
rs587778029
|
|
|
NM_000038.6(APC):c.5527C>A (p.Pro1843Thr)
|
rs1461006300
|
|
|
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer)
|
rs587776520
|
|
|
NM_000038.6(APC):c.5614G>A (p.Val1872Ile)
|
rs1580661875
|
|
|
NM_000038.6(APC):c.5650G>A (p.Ala1884Thr)
|
rs1580662124
|
|
|
NM_000038.6(APC):c.5652A>G (p.Ala1884=)
|
rs876658458
|
|
|
NM_000038.6(APC):c.566T>G (p.Leu189Trp)
|
rs1554072581
|
|
|
NM_000038.6(APC):c.5688C>G (p.Ser1896Arg)
|
rs1561601778
|
|
|
NM_000038.6(APC):c.5734G>A (p.Ala1912Thr)
|
rs1554086930
|
|
|
NM_000038.6(APC):c.5738T>C (p.Ile1913Thr)
|
rs1413246437
|
|
|
NM_000038.6(APC):c.5778A>G (p.Ile1926Met)
|
rs1244090932
|
|
|
NM_000038.6(APC):c.5821C>A (p.Pro1941Thr)
|
|
|
|
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu)
|
rs587779801
|
|
|
NM_000038.6(APC):c.5894A>G (p.His1965Arg)
|
rs773776516
|
|
|
NM_000038.6(APC):c.5907G>C (p.Leu1969=)
|
rs200881543
|
|
|
NM_000038.6(APC):c.5912C>A (p.Ser1971Tyr)
|
rs754691867
|
|
|
NM_000038.6(APC):c.5914C>T (p.Leu1972Phe)
|
rs1222940653
|
|
|
NM_000038.6(APC):c.5998A>G (p.Ser2000Gly)
|
rs587782271
|
|
|
NM_000038.6(APC):c.6001A>G (p.Lys2001Glu)
|
rs1580666566
|
|
|
NM_000038.6(APC):c.6047A>T (p.Asp2016Val)
|
rs1554087168
|
|
|
NM_000038.6(APC):c.60C>T (p.Asn20=)
|
rs780155240
|
|
|
NM_000038.6(APC):c.6162A>G (p.Ser2054=)
|
rs776160547
|
|
|
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr)
|
rs758715972
|
|
|
NM_000038.6(APC):c.626A>G (p.Asp209Gly)
|
rs1554072636
|
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
|
NM_000038.6(APC):c.6448C>G (p.Leu2150Val)
|
rs1263640330
|
|
|
NM_000038.6(APC):c.6453A>C (p.Thr2151=)
|
rs1057524298
|
|
|
NM_000038.6(APC):c.646-2A>G
|
rs777848503
|
|
|
NM_000038.6(APC):c.646-9T>C
|
rs1060504878
|
|
|
NM_000038.6(APC):c.6488A>T (p.Lys2163Ile)
|
rs1554087458
|
|
|
NM_000038.6(APC):c.6510A>G (p.Pro2170=)
|
rs138571760
|
|
|
NM_000038.6(APC):c.6565A>C (p.Lys2189Gln)
|
rs1554087525
|
|
|
NM_000038.6(APC):c.6688A>G (p.Met2230Val)
|
rs751547785
|
|
|
NM_000038.6(APC):c.6746A>G (p.Lys2249Arg)
|
rs1766291767
|
|
|
NM_000038.6(APC):c.6767C>A (p.Pro2256Gln)
|
rs1766296574
|
|
|
NM_000038.6(APC):c.677del (p.Lys226fs)
|
rs863225371
|
|
|
NM_000038.6(APC):c.6789A>G (p.Glu2263=)
|
rs1057521959
|
|
|
NM_000038.6(APC):c.6812C>G (p.Pro2271Arg)
|
rs1561610413
|
|
|
NM_000038.6(APC):c.6853G>A (p.Val2285Ile)
|
rs1554087794
|
|
|
NM_000038.6(APC):c.6875T>G (p.Ile2292Arg)
|
rs762705847
|
|
|
NM_000038.6(APC):c.6900T>C (p.Ser2300=)
|
rs202012533
|
|
|
NM_000038.6(APC):c.6926C>T (p.Pro2309Leu)
|
rs1060503329
|
|
|
NM_000038.6(APC):c.6944A>G (p.Gln2315Arg)
|
rs1060503273
|
|
|
NM_000038.6(APC):c.6966G>C (p.Gln2322His)
|
rs786204171
|
|
|
NM_000038.6(APC):c.6970C>G (p.Pro2324Ala)
|
rs770250821
|
|
|
NM_000038.6(APC):c.7038A>T (p.Pro2346=)
|
rs1580677722
|
|
|
NM_000038.6(APC):c.713A>G (p.Gln238Arg)
|
rs1759740429
|
|
|
NM_000038.6(APC):c.7161T>C (p.Asn2387=)
|
rs1580679289
|
|
|
NM_000038.6(APC):c.7211T>A (p.Met2404Lys)
|
rs864622246
|
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
|
NM_000038.6(APC):c.7303C>G (p.Pro2435Ala)
|
rs1114167590
|
|
|
NM_000038.6(APC):c.7306G>T (p.Val2436Leu)
|
rs1029102261
|
|
|
NM_000038.6(APC):c.7334A>G (p.Lys2445Arg)
|
rs1465349688
|
|
|
NM_000038.6(APC):c.7350A>G (p.Pro2450=)
|
rs1057523812
|
|
|
NM_000038.6(APC):c.7400C>T (p.Pro2467Leu)
|
rs758713824
|
|
|
NM_000038.6(APC):c.7491G>T (p.Ser2497=)
|
rs776327733
|
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
|
NM_000038.6(APC):c.7598C>G (p.Ser2533Cys)
|
rs1766520094
|
|
|
NM_000038.6(APC):c.7603A>G (p.Ser2535Gly)
|
rs1403987270
|
|
|
NM_000038.6(APC):c.7612A>G (p.Arg2538Gly)
|
rs1766523945
|
|
|
NM_000038.6(APC):c.7619C>A (p.Pro2540Gln)
|
|
|
|
NM_000038.6(APC):c.7696A>C (p.Arg2566=)
|
rs1060504883
|
|
|
NM_000038.6(APC):c.7701_7702del (p.Gly2568fs)
|
|
|
|
NM_000038.6(APC):c.775C>A (p.Arg259=)
|
rs762117133
|
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
|
NM_000038.6(APC):c.778C>T (p.Gln260Ter)
|
|
|
|
NM_000038.6(APC):c.7803T>G (p.Ser2601Arg)
|
rs2149994136
|
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
|
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)
|
rs587781816
|
|
|
NM_000038.6(APC):c.7863T>A (p.Ser2621=)
|
rs1561618785
|
|
|
NM_000038.6(APC):c.7967A>G (p.Asp2656Gly)
|
rs1463203731
|
|
|
NM_000038.6(APC):c.8006C>G (p.Pro2669Arg)
|
rs1335624903
|
|
|
NM_000038.6(APC):c.800G>C (p.Gly267Ala)
|
rs747759906
|
|
|
NM_000038.6(APC):c.8038C>G (p.Pro2680Ala)
|
rs587780553
|
|
|
NM_000038.6(APC):c.8043G>A (p.Pro2681=)
|
rs149347068
|
|
|
NM_000038.6(APC):c.8128A>C (p.Ser2710Arg)
|
rs760472102
|
|
|
NM_000038.6(APC):c.8138T>C (p.Met2713Thr)
|
rs1479889029
|
|
|
NM_000038.6(APC):c.813G>A (p.Met271Ile)
|
rs1064793903
|
|
|
NM_000038.6(APC):c.8146G>T (p.Val2716Leu)
|
rs587778044
|
|
|
NM_000038.6(APC):c.8203G>C (p.Gly2735Arg)
|
rs376392084
|
|
|
NM_000038.6(APC):c.8251A>G (p.Thr2751Ala)
|
rs1060503341
|
|
|
NM_000038.6(APC):c.8281C>G (p.Pro2761Ala)
|
rs1060503332
|
|
|
NM_000038.6(APC):c.8306A>G (p.Lys2769Arg)
|
rs878853475
|
|
|
NM_000038.6(APC):c.8321G>C (p.Ser2774Thr)
|
rs863224553
|
|
|
NM_000038.6(APC):c.835G>T (p.Gly279Cys)
|
rs1554079129
|
|
|
NM_000038.6(APC):c.8368C>G (p.Pro2790Ala)
|
rs1580692838
|
|
|
NM_000038.6(APC):c.8440A>G (p.Lys2814Glu)
|
rs756826512
|
|
|
NM_000038.6(APC):c.8441_8444del (p.Lys2814fs)
|
rs879253985
|
|
|
NM_000038.6(APC):c.8473T>C (p.Ser2825Pro)
|
rs1766756689
|
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
|
NM_000038.6(APC):c.8492C>G (p.Pro2831Arg)
|
rs773513581
|
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
|
NM_000038.6(APC):c.933+7G>A
|
rs369087912
|
|
|
NM_000038.6(APC):c.959C>A (p.Ser320Ter)
|
|
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
|
NM_000038.6(APC):c.[5026A>G;7399C>A]
|
|
|
|
NM_000039.3(APOA1):c.*11_*15del
|
|
|
|
NM_000039.3(APOA1):c.11C>T (p.Ala4Val)
|
rs1265273561
|
|
|
NM_000039.3(APOA1):c.162G>C (p.Val54=)
|
rs193922099
|
|
|
NM_000039.3(APOA1):c.283T>C (p.Phe95Leu)
|
rs2134231444
|
|
|
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)
|
rs532489785
|
|
|
NM_000039.3(APOA1):c.564C>G (p.Ala188=)
|
rs558064576
|
|
|
NM_000039.3(APOA1):c.752T>A (p.Val251Asp)
|
rs760566805
|
|
|
NM_000040.3(APOC3):c.271G>A (p.Val91Ile)
|
|
|
|
NM_000040.3(APOC3):c.56-15C>A
|
|
|
|
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup)
|
rs3032358
|
|
|
NM_000044.6(AR):c.972C>T (p.Ser324=)
|
|
|
|
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
|
|
|
|
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)
|
rs1451472748
|
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
|
NM_000046.5(ARSB):c.1032C>A (p.Asn344Lys)
|
|
|
|
NM_000046.5(ARSB):c.111G>C (p.Ser37=)
|
rs2112583225
|
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
|
NM_000046.5(ARSB):c.116_123del (p.Ala39fs)
|
rs1554032243
|
|
|
NM_000046.5(ARSB):c.1177C>T (p.His393Tyr)
|
|
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
|
NM_000046.5(ARSB):c.1214-2A>G
|
rs1554069808
|
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
|
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)
|
rs1209412483
|
|
|
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)
|
rs771113472
|
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
|
NM_000046.5(ARSB):c.1595G>A (p.Trp532Ter)
|
|
|
|
NM_000046.5(ARSB):c.160G>C (p.Asp54His)
|
|
|
|
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn)
|
rs1236509896
|
|
|
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)
|
rs397514441
|
|
|
NM_000046.5(ARSB):c.219_230delinsG (p.Asp73fs)
|
rs1561197425
|
|
|
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
|
|
|
|
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)
|
rs969231209
|
|
|
NM_000046.5(ARSB):c.274A>G (p.Thr92Ala)
|
|
|
|
NM_000046.5(ARSB):c.286A>G (p.Ser96Gly)
|
|
|
|
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)
|
rs1554032095
|
|
|
NM_000046.5(ARSB):c.312+2T>G
|
|
|
|
NM_000046.5(ARSB):c.427del (p.Val143fs)
|
rs766914147
|
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
|
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)
|
rs773460207
|
|
|
NM_000046.5(ARSB):c.675C>A (p.Asn225Lys)
|
|
|
|
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)
|
rs1554086414
|
|
|
NM_000047.3(ARSL):c.1156G>T (p.Gly386Trp)
|
rs2147349610
|
|
|
NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys)
|
rs2089175161
|
|
|
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)
|
rs796051933
|
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
|
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)
|
rs869312994
|
|
|
NM_000048.4(ASL):c.35G>T (p.Arg12Leu)
|
|
|
|
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)
|
|
|
|
NM_000048.4(ASL):c.436C>G (p.Arg146Gly)
|
|
|
|
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer)
|
rs1786675239
|
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
|
NM_000048.4(ASL):c.687C>G (p.Ser229Arg)
|
|
|
|
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)
|
rs761268464
|
|
|
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
|
|
|
|
NM_000048.4(ASL):c.925G>A (p.Gly309Arg)
|
rs769506424
|
|
|
NM_000048.4(ASL):c.978+1G>A
|
|
|
|
NM_000049.4(ASPA):c.244dup (p.Met82fs)
|
rs756198538
|
|
|
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)
|
rs1289890879
|
|
|
NM_000049.4(ASPA):c.32del (p.Ile11fs)
|
rs767666474
|
|
|
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)
|
rs1446467099
|
|
|
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala)
|
rs2073632657
|
|
|
NM_000049.4(ASPA):c.385G>A (p.Glu129Lys)
|
rs773049803
|
|
|
NM_000049.4(ASPA):c.433-2A>G
|
rs63751297
|
|
|
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)
|
rs104894548
|
|
|
NM_000049.4(ASPA):c.478C>T (p.Pro160Ser)
|
rs1342547785
|
|
|
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)
|
rs786204572
|
|
|
NM_000049.4(ASPA):c.631G>T (p.Glu211Ter)
|
rs1555539903
|
|
|
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter)
|
rs104894549
|
|
|
NM_000049.4(ASPA):c.65G>A (p.Gly22Glu)
|
rs1256380639
|
|
|
NM_000049.4(ASPA):c.677T>C (p.Ile226Thr)
|
|
|
|
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)
|
rs12948217
|
|
|
NM_000049.4(ASPA):c.697dup (p.Arg233fs)
|
|
|
|
NM_000049.4(ASPA):c.731A>G (p.His244Arg)
|
rs1057516995
|
|
|
NM_000049.4(ASPA):c.731A>T (p.His244Leu)
|
|
|
|
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)
|
rs766720790
|
|
|
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)
|
rs1555538144
|
|
|
NM_000049.4(ASPA):c.902T>C (p.Leu301Pro)
|
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
|
NM_000051.4(ATM):c.100A>T (p.Ile34Phe)
|
rs1555054094
|
|
|
NM_000051.4(ATM):c.1020C>A (p.Ala340=)
|
rs546927781
|
|
|
NM_000051.4(ATM):c.1020C>T (p.Ala340=)
|
rs546927781
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
|
NM_000051.4(ATM):c.1096A>G (p.Ile366Val)
|
rs879254198
|
|
|
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys)
|
rs786203855
|
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
|
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn)
|
rs876658833
|
|
|
NM_000051.4(ATM):c.1203G>C (p.Gln401His)
|
rs1214283617
|
|
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
|
NM_000051.4(ATM):c.1236-10T>C
|
rs1364244917
|
|
|
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala)
|
rs863224556
|
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
|
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg)
|
rs546621356
|
|
|
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala)
|
rs1064795171
|
|
|
NM_000051.4(ATM):c.1350A>G (p.Glu450=)
|
rs2135319715
|
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
|
NM_000051.4(ATM):c.1364T>C (p.Val455Ala)
|
rs876658772
|
|
|
NM_000051.4(ATM):c.137A>C (p.His46Pro)
|
rs1591447177
|
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
|
NM_000051.4(ATM):c.1450_1451del (p.Trp484fs)
|
|
|
|
NM_000051.4(ATM):c.1461T>G (p.Ile487Met)
|
rs2080108393
|
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
|
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)
|
rs786201969
|
|
|
NM_000051.4(ATM):c.14T>G (p.Leu5Arg)
|
|
|
|
NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)
|
|
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
|
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs)
|
rs2080115075
|
|
|
NM_000051.4(ATM):c.1538A>C (p.Gln513Pro)
|
rs753109010
|
|
|
NM_000051.4(ATM):c.1555G>A (p.Val519Ile)
|
rs758056561
|
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
|
NM_000051.4(ATM):c.1609C>T (p.Pro537Ser)
|
rs1165590160
|
|
|
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala)
|
rs878853486
|
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
|
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg)
|
rs2135340121
|
|
|
NM_000051.4(ATM):c.1670T>G (p.Met557Arg)
|
rs786202770
|
|
|
NM_000051.4(ATM):c.1673G>T (p.Gly558Val)
|
rs1064795257
|
|
|
NM_000051.4(ATM):c.1689G>C (p.Met563Ile)
|
rs786202469
|
|
|
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr)
|
rs1565385720
|
|
|
NM_000051.4(ATM):c.172G>C (p.Asp58His)
|
rs876660661
|
|
|
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly)
|
rs2080177696
|
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
|
NM_000051.4(ATM):c.1915G>C (p.Asp639His)
|
rs1591533828
|
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
|
NM_000051.4(ATM):c.1991C>A (p.Thr664Asn)
|
rs1231343218
|
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
|
NM_000051.4(ATM):c.2023del (p.Gln675fs)
|
|
|
|
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)
|
rs2080308052
|
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
|
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile)
|
rs1335638362
|
|
|
NM_000051.4(ATM):c.2058C>G (p.Leu686=)
|
rs761397203
|
|
|
NM_000051.4(ATM):c.2058C>T (p.Leu686=)
|
rs761397203
|
|
|
NM_000051.4(ATM):c.2091del (p.Leu697fs)
|
|
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
|
NM_000051.4(ATM):c.2124+5G>A
|
rs1565390942
|
|
|
NM_000051.4(ATM):c.2125-5_2125-4dup
|
|
|
|
NM_000051.4(ATM):c.2125A>G (p.Ile709Val)
|
rs864622259
|
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
|
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser)
|
rs887317346
|
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
|
NM_000051.4(ATM):c.2233T>C (p.Leu745=)
|
rs1293287271
|
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
|
NM_000051.4(ATM):c.2337G>A (p.Met779Ile)
|
rs1227866298
|
|
|
NM_000051.4(ATM):c.2355T>C (p.Arg785=)
|
rs1555075801
|
|
|
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)
|
rs1555075809
|
|
|
NM_000051.4(ATM):c.2377-7A>G
|
rs2080691600
|
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
|
NM_000051.4(ATM):c.2404T>C (p.Phe802Leu)
|
rs2080695065
|
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
|
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly)
|
rs587779821
|
|
|
NM_000051.4(ATM):c.2450A>T (p.Asp817Val)
|
rs587779821
|
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
|
NM_000051.4(ATM):c.2466+8T>A
|
rs765619483
|
|
|
NM_000051.4(ATM):c.2467-1G>A
|
rs1328985852
|
|
|
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe)
|
rs1555082060
|
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
|
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln)
|
rs1246807453
|
|
|
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp)
|
rs1060501697
|
|
|
NM_000051.4(ATM):c.251C>T (p.Ala84Val)
|
rs587781937
|
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
|
NM_000051.4(ATM):c.2538A>G (p.Leu846=)
|
rs567045160
|
|
|
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro)
|
rs876658913
|
|
|
NM_000051.4(ATM):c.2559A>T (p.Ser853=)
|
rs2081307609
|
|
|
NM_000051.4(ATM):c.2578G>C (p.Asp860His)
|
rs587779825
|
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
|
NM_000051.4(ATM):c.2634C>G (p.Thr878=)
|
rs771444818
|
|
|
NM_000051.4(ATM):c.2639-19_2639-7del
|
rs1591593439
|
|
|
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr)
|
rs1400094698
|
|
|
NM_000051.4(ATM):c.2703C>G (p.Leu901=)
|
rs1315907364
|
|
|
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr)
|
rs775371838
|
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2805G>T (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
|
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)
|
rs762078586
|
|
|
NM_000051.4(ATM):c.2838+9C>T
|
rs370160823
|
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
|
NM_000051.4(ATM):c.289A>G (p.Ile97Val)
|
rs1565347206
|
|
|
NM_000051.4(ATM):c.2910_2921+10del
|
|
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
|
NM_000051.4(ATM):c.2922-7dup
|
rs932219783
|
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
|
NM_000051.4(ATM):c.2922-8dup
|
rs373881770
|
|
|
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)
|
rs1555084947
|
|
|
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu)
|
rs772327699
|
|
|
NM_000051.4(ATM):c.2987A>G (p.His996Arg)
|
rs876660034
|
|
|
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile)
|
rs1555085128
|
|
|
NM_000051.4(ATM):c.3027G>A (p.Glu1009=)
|
rs1060504299
|
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
|
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
|
NM_000051.4(ATM):c.3078-16A>C
|
|
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
|
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys)
|
rs1064796080
|
|
|
NM_000051.4(ATM):c.3205C>A (p.Pro1069Thr)
|
rs751714261
|
|
|
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile)
|
rs587780620
|
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
|
NM_000051.4(ATM):c.3309T>C (p.Asp1103=)
|
|
|
|
NM_000051.4(ATM):c.331+2T>C
|
rs1555055358
|
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
|
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly)
|
rs1565441399
|
|
|
NM_000051.4(ATM):c.3420C>T (p.Asn1140=)
|
rs1329688204
|
|
|
NM_000051.4(ATM):c.3530G>A (p.Cys1177Tyr)
|
rs587782470
|
|
|
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs)
|
rs746598992
|
|
|
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp)
|
rs12786957
|
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
|
NM_000051.4(ATM):c.3631del (p.Ala1211fs)
|
rs1064795885
|
|
|
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)
|
rs863224563
|
|
|
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val)
|
rs1555092445
|
|
|
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile)
|
rs587782195
|
|
|
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys)
|
rs759673348
|
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
|
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser)
|
rs786202897
|
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
|
NM_000051.4(ATM):c.3746+5G>C
|
|
|
|
NM_000051.4(ATM):c.3759G>A (p.Lys1253=)
|
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr)
|
rs1308232635
|
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
|
NM_000051.4(ATM):c.3832G>C (p.Asp1278His)
|
rs730881365
|
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
|
NM_000051.4(ATM):c.3939G>C (p.Glu1313Asp)
|
rs2082386564
|
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
|
NM_000051.4(ATM):c.3993+10C>T
|
rs587782262
|
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
|
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)
|
rs1057522187
|
|
|
NM_000051.4(ATM):c.4020A>G (p.Leu1340=)
|
rs1555095888
|
|
|
NM_000051.4(ATM):c.4085G>T (p.Ser1362Ile)
|
rs923836140
|
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
|
NM_000051.4(ATM):c.4110G>A (p.Gly1370=)
|
rs2082638172
|
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
|
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu)
|
rs752460436
|
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
|
NM_000051.4(ATM):c.4236+9A>G
|
rs1591661022
|
|
|
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn)
|
rs1337392659
|
|
|
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)
|
rs2135760623
|
|
|
NM_000051.4(ATM):c.4291A>C (p.Asn1431His)
|
rs748144169
|
|
|
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg)
|
rs769980220
|
|
|
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser)
|
rs1555097507
|
|
|
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
|
|
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
|
NM_000051.4(ATM):c.4358del (p.Ile1453fs)
|
rs2082679287
|
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
|
NM_000051.4(ATM):c.4404T>C (p.Val1468=)
|
rs1555097801
|
|
|
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
|
|
|
|
NM_000051.4(ATM):c.4420C>A (p.His1474Asn)
|
rs587779840
|
|
|
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val)
|
rs1565457035
|
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
|
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu)
|
rs760542469
|
|
|
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr)
|
rs1565461414
|
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
|
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)
|
rs768183241
|
|
|
NM_000051.4(ATM):c.4620C>T (p.Asp1540=)
|
rs1329153013
|
|
|
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)
|
rs876658379
|
|
|
NM_000051.4(ATM):c.4727T>C (p.Ile1576Thr)
|
rs2082922133
|
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
|
NM_000051.4(ATM):c.4844del (p.Lys1615fs)
|
rs1555101791
|
|
|
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)
|
rs1565357383
|
|
|
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro)
|
rs786203017
|
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
|
NM_000051.4(ATM):c.489G>T (p.Gln163His)
|
rs1057523087
|
|
|
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)
|
rs140425622
|
|
|
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr)
|
rs55843558
|
|
|
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala)
|
rs997081415
|
|
|
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe)
|
rs786201297
|
|
|
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)
|
rs1565469955
|
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
|
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val)
|
rs992234584
|
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
|
NM_000051.4(ATM):c.5177+1G>A
|
rs1131691159
|
|
|
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala)
|
rs1179068103
|
|
|
NM_000051.4(ATM):c.5197G>C (p.Ala1733Pro)
|
|
|
|
NM_000051.4(ATM):c.523T>G (p.Tyr175Asp)
|
rs2079697425
|
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
|
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)
|
rs1064794192
|
|
|
NM_000051.4(ATM):c.533C>T (p.Pro178Leu)
|
rs1591499842
|
|
|
NM_000051.4(ATM):c.5346A>G (p.Lys1782=)
|
rs1555106345
|
|
|
NM_000051.4(ATM):c.5358T>A (p.Phe1786Leu)
|
rs876659725
|
|
|
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly)
|
rs367987632
|
|
|
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr)
|
rs1555106445
|
|
|
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser)
|
rs1555106445
|
|
|
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr)
|
rs983664978
|
|
|
NM_000051.4(ATM):c.5476T>C (p.Leu1826=)
|
rs1555106563
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
|
NM_000051.4(ATM):c.5608T>C (p.Phe1870Leu)
|
|
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
|
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly)
|
rs2083822627
|
|
|
NM_000051.4(ATM):c.5769T>C (p.Ser1923=)
|
rs1060504280
|
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
|
NM_000051.4(ATM):c.5865A>G (p.Leu1955=)
|
rs1555110432
|
|
|
NM_000051.4(ATM):c.5874A>G (p.Ala1958=)
|
rs1591746375
|
|
|
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr)
|
rs730881377
|
|
|
NM_000051.4(ATM):c.5961T>G (p.Ser1987=)
|
rs1060504265
|
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
|
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)
|
rs375783941
|
|
|
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg)
|
rs863224575
|
|
|
NM_000051.4(ATM):c.6087C>T (p.Pro2029=)
|
rs1060504316
|
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
|
NM_000051.4(ATM):c.6095+4A>G
|
rs1555113632
|
|
|
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val)
|
rs1299506506
|
|
|
NM_000051.4(ATM):c.6120A>G (p.Ala2040=)
|
rs1565499622
|
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
|
NM_000051.4(ATM):c.6179G>A (p.Arg2060His)
|
rs376521407
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
|
NM_000051.4(ATM):c.6263A>G (p.Asn2088Ser)
|
rs2084783116
|
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
|
NM_000051.4(ATM):c.6304G>C (p.Ala2102Pro)
|
rs1565503340
|
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
|
NM_000051.4(ATM):c.6330C>T (p.Asp2110=)
|
rs759029705
|
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
|
NM_000051.4(ATM):c.633C>G (p.Asp211Glu)
|
rs1060501634
|
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
|
NM_000051.4(ATM):c.6378A>G (p.Glu2126=)
|
rs1060504297
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
|
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn)
|
rs56815840
|
|
|
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile)
|
rs730881382
|
|
|
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)
|
rs755074633
|
|
|
NM_000051.4(ATM):c.6452+2T>C
|
rs1064795006
|
|
|
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr)
|
rs2136222746
|
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
|
NM_000051.4(ATM):c.6516A>C (p.Thr2172=)
|
rs576254168
|
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
|
NM_000051.4(ATM):c.6681C>A (p.Arg2227=)
|
rs775850434
|
|
|
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr)
|
rs587781562
|
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
|
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)
|
rs587782478
|
|
|
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser)
|
rs786202583
|
|
|
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)
|
rs769731317
|
|
|
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
|
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)
|
rs3218699
|
|
|
NM_000051.4(ATM):c.6807+8del
|
rs1555119385
|
|
|
NM_000051.4(ATM):c.6808-242_7516-275del
|
|
|
|
NM_000051.4(ATM):c.6808-72ATT[4]
|
rs3212322
|
|
|
NM_000051.4(ATM):c.681dup (p.Gly228fs)
|
rs1591503359
|
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
|
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr)
|
rs1591134072
|
|
|
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln)
|
rs1449259481
|
|
|
NM_000051.4(ATM):c.695T>C (p.Ile232Thr)
|
rs786203502
|
|
|
NM_000051.4(ATM):c.6975+4T>G
|
rs876660240
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
|
NM_000051.4(ATM):c.7038A>G (p.Ala2346=)
|
rs146167034
|
|
|
NM_000051.4(ATM):c.703G>A (p.Ala235Thr)
|
rs76379269
|
|
|
NM_000051.4(ATM):c.7049T>C (p.Leu2350Ser)
|
rs2085820749
|
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
|
NM_000051.4(ATM):c.7128T>G (p.Ser2376Arg)
|
rs2136412428
|
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
|
NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu)
|
rs2136415518
|
|
|
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr)
|
rs758351633
|
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
|
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr)
|
rs1565527146
|
|
|
NM_000051.4(ATM):c.7284G>A (p.Arg2428=)
|
rs1591152279
|
|
|
NM_000051.4(ATM):c.73-3C>T
|
rs1555054039
|
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
|
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
|
|
|
|
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
|
NM_000051.4(ATM):c.736A>T (p.Asn246Tyr)
|
|
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
|
NM_000051.4(ATM):c.7425A>G (p.Leu2475=)
|
rs1555123162
|
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
|
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg)
|
rs1555123216
|
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
|
NM_000051.4(ATM):c.7516-9del
|
rs573494809
|
|
|
NM_000051.4(ATM):c.7516-9dup
|
rs573494809
|
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
|
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile)
|
rs1591167543
|
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
|
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp)
|
rs1322308382
|
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
|
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile)
|
rs761790685
|
|
|
NM_000051.4(ATM):c.7788+3A>G
|
rs869312788
|
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
|
NM_000051.4(ATM):c.779C>T (p.Pro260Leu)
|
rs961262202
|
|
|
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
|
rs2086411154
|
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
|
NM_000051.4(ATM):c.7927+5G>A
|
rs1299306446
|
|
|
NM_000051.4(ATM):c.795T>A (p.Ile265=)
|
rs1290222131
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
|
NM_000051.4(ATM):c.79G>T (p.Val27Phe)
|
rs754770960
|
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
|
NM_000051.4(ATM):c.8046T>C (p.Thr2682=)
|
rs876660435
|
|
|
NM_000051.4(ATM):c.805C>T (p.His269Tyr)
|
rs1591504278
|
|
|
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del)
|
rs1565540828
|
|
|
NM_000051.4(ATM):c.8094A>G (p.Leu2698=)
|
rs786203569
|
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
|
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
|
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
|
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val)
|
rs2086688080
|
|
|
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys)
|
rs1060501695
|
|
|
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu)
|
rs1060501695
|
|
|
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala)
|
rs2086799919
|
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8269-10_8269-9del
|
rs587780641
|
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
|
NM_000051.4(ATM):c.8295T>C (p.Gly2765=)
|
|
|
|
NM_000051.4(ATM):c.829del (p.Glu277fs)
|
|
|
|
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
|
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val)
|
rs879253877
|
|
|
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser)
|
rs1174335574
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
|
NM_000051.4(ATM):c.840T>G (p.Ile280Met)
|
rs1591504482
|
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.845T>G (p.Leu282Ter)
|
rs2135242595
|
|
|
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr)
|
rs876660927
|
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
|
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly)
|
rs587778080
|
|
|
NM_000051.4(ATM):c.8559G>A (p.Thr2853=)
|
rs368058202
|
|
|
NM_000051.4(ATM):c.8562C>T (p.Arg2854=)
|
rs878853550
|
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
|
NM_000051.4(ATM):c.8605G>C (p.Gly2869Arg)
|
rs748855312
|
|
|
NM_000051.4(ATM):c.8615A>G (p.His2872Arg)
|
rs1591273938
|
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
|
NM_000051.4(ATM):c.8660A>C (p.His2887Pro)
|
rs864622173
|
|
|
NM_000051.4(ATM):c.8671+1G>T
|
rs1555139694
|
|
|
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg)
|
rs1565567541
|
|
|
NM_000051.4(ATM):c.8672-9T>C
|
rs2137283941
|
|
|
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu)
|
rs1565579149
|
|
|
NM_000051.4(ATM):c.8715A>G (p.Thr2905=)
|
rs786202933
|
|
|
NM_000051.4(ATM):c.872A>G (p.His291Arg)
|
rs1555067285
|
|
|
NM_000051.4(ATM):c.8733del (p.Arg2912fs)
|
|
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
|
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys)
|
rs730881329
|
|
|
NM_000051.4(ATM):c.8787-3T>C
|
rs2089687765
|
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
|
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val)
|
rs1333760745
|
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
|
NM_000051.4(ATM):c.8851G>C (p.Val2951Leu)
|
rs1555151205
|
|
|
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu)
|
rs1555151244
|
|
|
NM_000051.4(ATM):c.8868A>T (p.Pro2956=)
|
rs1157772894
|
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
|
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
|
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys)
|
rs376524155
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
|
NM_000051.4(ATM):c.8987+10A>G
|
rs1060504308
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
|
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala)
|
rs876659968
|
|
|
NM_000051.4(ATM):c.903T>C (p.Gly301=)
|
rs876659335
|
|
|
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp)
|
rs769548726
|
|
|
NM_000051.4(ATM):c.9076C>G (p.Leu3026Val)
|
|
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
|
NM_000051.4(ATM):c.9084T>C (p.Val3028=)
|
rs786203210
|
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
|
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe)
|
rs876660534
|
|
|
NM_000051.4(ATM):c.9168G>A (p.Val3056=)
|
rs1591388522
|
|
|
NM_000051.4(ATM):c.93G>C (p.Lys31Asn)
|
rs863224583
|
|
|
NM_000051.4(ATM):c.951T>G (p.Asp317Glu)
|
rs876659199
|
|
|
NM_000051.4(ATM):c.962A>G (p.Asn321Ser)
|
rs1555068398
|
|
|
NM_000052.7(ATP7A):c.1329del (p.Leu444fs)
|
rs2149083474
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
|
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
|
|
|
|
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala)
|
rs2149104921
|
|
|
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile)
|
rs1064796648
|
|
|
NM_000052.7(ATP7A):c.4385C>G (p.Ala1462Gly)
|
|
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
|
NM_000052.7(ATP7A):c.611-1G>C
|
|
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
|
NM_000053.4(ATP7B):c.-74C>A
|
rs193922101
|
|
|
NM_000053.4(ATP7B):c.1073del (p.Cys358fs)
|
rs1951985366
|
|
|
NM_000053.4(ATP7B):c.1100G>C (p.Gly367Ala)
|
|
|
|
NM_000053.4(ATP7B):c.111dup (p.Ala38fs)
|
rs1555296939
|
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
|
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
|
|
|
|
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro)
|
rs781780227
|
|
|
NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val)
|
rs1951971023
|
|
|
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser)
|
rs763788226
|
|
|
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys)
|
rs1209726590
|
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
|
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg)
|
rs749968753
|
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
|
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)
|
rs772000260
|
|
|
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)
|
rs1449610384
|
|
|
NM_000053.4(ATP7B):c.1543+15C>G
|
rs1365158305
|
|
|
NM_000053.4(ATP7B):c.1543+1G>T
|
rs1360279134
|
|
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
|
|
NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs)
|
rs1951680623
|
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
|
NM_000053.4(ATP7B):c.1739del (p.His580fs)
|
rs1555293357
|
|
|
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)
|
rs1057516561
|
|
|
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=)
|
rs1566559391
|
|
|
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)
|
rs1057516940
|
|
|
NM_000053.4(ATP7B):c.1946+5dup
|
|
|
|
NM_000053.4(ATP7B):c.1947-5T>C
|
rs1958647927
|
|
|
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=)
|
rs574041847
|
|
|
NM_000053.4(ATP7B):c.199A>G (p.Met67Val)
|
|
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
|
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)
|
rs779904655
|
|
|
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val)
|
rs1555291836
|
|
|
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu)
|
rs1555291809
|
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
|
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr)
|
rs1212479289
|
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
|
|
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)
|
rs1394999756
|
|
|
NM_000053.4(ATP7B):c.213_214del (p.Val73fs)
|
rs1445951068
|
|
|
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter)
|
rs1085307057
|
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
|
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys)
|
rs1202766392
|
|
|
NM_000053.4(ATP7B):c.2207C>T (p.Ala736Val)
|
|
|
|
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)
|
rs1958499640
|
|
|
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
|
rs1958499462
|
|
|
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)
|
rs1555291181
|
|
|
NM_000053.4(ATP7B):c.2275A>T (p.Ser759Cys)
|
rs2139534075
|
|
|
NM_000053.4(ATP7B):c.2290T>C (p.Phe764Leu)
|
|
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
|
NM_000053.4(ATP7B):c.2306T>C (p.Met769Thr)
|
|
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
|
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)
|
rs28942074
|
|
|
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter)
|
rs137853282
|
|
|
NM_000053.4(ATP7B):c.2356-2A>T
|
|
|
|
NM_000053.4(ATP7B):c.2388_2389del (p.Met796fs)
|
rs2139503242
|
|
|
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe)
|
rs1555290883
|
|
|
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)
|
rs770020484
|
|
|
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs)
|
rs1555290810
|
|
|
NM_000053.4(ATP7B):c.2447+1G>T
|
rs1958431105
|
|
|
NM_000053.4(ATP7B):c.2448-4G>T
|
rs1593697433
|
|
|
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)
|
rs368589213
|
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
|
NM_000053.4(ATP7B):c.2581G>A (p.Ala861Thr)
|
|
|
|
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
|
NM_000053.4(ATP7B):c.2666A>T (p.His889Leu)
|
|
|
|
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)
|
rs2139201690
|
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
|
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)
|
rs1228359983
|
|
|
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)
|
rs1566498495
|
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
|
NM_000053.4(ATP7B):c.2826C>A (p.Ile942=)
|
rs758712064
|
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
|
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)
|
rs770782111
|
|
|
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs)
|
rs1957654399
|
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
|
NM_000053.4(ATP7B):c.3021C>A (p.Ile1007=)
|
rs1566484621
|
|
|
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)
|
rs1555287300
|
|
|
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)
|
rs2139048200
|
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
|
NM_000053.4(ATP7B):c.3061-1G>A
|
rs780955130
|
|
|
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs)
|
rs1331370011
|
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
|
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
|
rs1441316018
|
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
|
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp)
|
rs1397311718
|
|
|
NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg)
|
rs1376645882
|
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
|
NM_000053.4(ATP7B):c.3266G>T (p.Gly1089Val)
|
|
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
|
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser)
|
rs1566468882
|
|
|
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)
|
rs1566468816
|
|
|
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs)
|
rs1566468784
|
|
|
NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)
|
|
|
|
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
|
|
|
NM_000053.4(ATP7B):c.3412+1G>A
|
rs1957388064
|
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
|
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs)
|
rs1566461818
|
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
|
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer)
|
rs1957151787
|
|
|
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys)
|
rs1957150974
|
|
|
NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs)
|
rs1462451206
|
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
|
NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs)
|
|
|
|
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)
|
rs1957043255
|
|
|
NM_000053.4(ATP7B):c.3858C>G (p.Thr1286=)
|
rs558520674
|
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
|
NM_000053.4(ATP7B):c.3895del (p.Ile1300fs)
|
rs1957038706
|
|
|
NM_000053.4(ATP7B):c.3904-2A>G
|
rs1057517233
|
|
|
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)
|
rs1057516227
|
|
|
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs)
|
rs2138560807
|
|
|
NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr)
|
rs1333619338
|
|
|
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)
|
rs1566441447
|
|
|
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)
|
rs786204578
|
|
|
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg)
|
rs1160679283
|
|
|
NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)
|
|
|
|
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val)
|
rs1305262063
|
|
|
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro)
|
rs1555282748
|
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
|
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
|
NM_000053.4(ATP7B):c.4125-1G>C
|
rs1293549383
|
|
|
NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser)
|
rs1555282338
|
|
|
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)
|
rs368801566
|
|
|
NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)
|
|
|
|
NM_000053.4(ATP7B):c.436_1708-958del
|
|
|
|
NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs)
|
|
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
|
NM_000053.4(ATP7B):c.525del (p.Val176fs)
|
rs558037268
|
|
|
NM_000053.4(ATP7B):c.525dup (p.Val176fs)
|
rs558037268
|
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
|
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)
|
rs1566598496
|
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
|
NM_000053.4(ATP7B):c.845del (p.Leu282fs)
|
rs193922111
|
|
|
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)
|
rs398123137
|
|
|
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
|
rs911589273
|
|
|
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)
|
rs761084829
|
|
|
NM_000054.7(AVPR2):c.1018C>T (p.Leu340Phe)
|
|
|
|
NM_000054.7(AVPR2):c.1099A>T (p.Lys367Ter)
|
|
|
|
NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro)
|
rs193922112
|
|
|
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])
|
rs782292545
|
|
|
NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro)
|
rs193922113
|
|
|
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)
|
rs104894760
|
|
|
NM_000054.7(AVPR2):c.377C>T (p.Ser126Phe)
|
rs2148514471
|
|
|
NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)
|
rs104894761
|
|
|
NM_000054.7(AVPR2):c.424del (p.Cys142fs)
|
rs193922114
|
|
|
NM_000054.7(AVPR2):c.427C>T (p.Arg143Cys)
|
|
|
|
NM_000054.7(AVPR2):c.472del (p.Arg158fs)
|
rs193922115
|
|
|
NM_000054.7(AVPR2):c.554del (p.Gly185fs)
|
rs193922116
|
|
|
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)
|
rs104894749
|
|
|
NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter)
|
rs193922117
|
|
|
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)
|
rs193922118
|
|
|
NM_000054.7(AVPR2):c.770del (p.Gly257fs)
|
rs193922119
|
|
|
NM_000054.7(AVPR2):c.819_821del (p.Leu274del)
|
rs193922120
|
|
|
NM_000054.7(AVPR2):c.838dup (p.Tyr280fs)
|
rs193922121
|
|
|
NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro)
|
rs193922122
|
|
|
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)
|
rs104893684
|
|
|
NM_000055.4(BCHE):c.1027dup (p.Thr343fs)
|
rs754214624
|
|
|
NM_000055.4(BCHE):c.1158del (p.Pro387fs)
|
rs767469658
|
|
|
NM_000055.4(BCHE):c.1171_1174dup (p.Phe392Ter)
|
|
|
|
NM_000055.4(BCHE):c.119A>G (p.Lys40Arg)
|
|
|
|
NM_000055.4(BCHE):c.1802del (p.Gly601fs)
|
|
|
|
NM_000055.4(BCHE):c.495_498del (p.Arg166fs)
|
rs772259613
|
|
|
NM_000055.4(BCHE):c.777G>A (p.Trp259Ter)
|
|
|
|
NM_000057.3(BLM):c.4080dupG
|
rs2151202230
|
|
|
NM_000057.4(BLM):c.1009A>G (p.Thr337Ala)
|
|
|
|
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)
|
rs1332024999
|
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
|
NM_000057.4(BLM):c.1346del (p.Ser449fs)
|
rs2151158066
|
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)
|
rs1895966276
|
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
|
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
|
|
|
|
NM_000057.4(BLM):c.2323A>G (p.Arg775Gly)
|
rs2151165680
|
|
|
NM_000057.4(BLM):c.234C>T (p.Pro78=)
|
rs970793829
|
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
|
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)
|
rs767086502
|
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
|
NM_000057.4(BLM):c.2690C>G (p.Ser897Cys)
|
rs750600011
|
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
|
NM_000057.4(BLM):c.2824-1066del
|
rs1567055836
|
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
|
NM_000057.4(BLM):c.3005_3019del (p.Lys1002_Met1006del)
|
|
|
|
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr)
|
rs2151187181
|
|
|
NM_000057.4(BLM):c.311C>A (p.Ser104Ter)
|
rs367543030
|
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
|
NM_000057.4(BLM):c.380C>A (p.Thr127Asn)
|
rs1895613545
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
|
NM_000057.4(BLM):c.582del (p.Phe194fs)
|
rs367543026
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
|
NM_000059.3(BRCA2):c.156_157insAlu
|
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
|
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)
|
rs1566232310
|
|
|
NM_000059.3(BRCA2):c.7241_7242inv (p.Ser2414Leu)
|
|
|
|
NM_000059.3(BRCA2):c.7435+10G>A
|
rs81002793
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
|
NM_000059.4(BRCA2):c.*8C>T
|
rs747134610
|
|
|
NM_000059.4(BRCA2):c.-12T>C
|
rs276174795
|
|
|
NM_000059.4(BRCA2):c.-15A>T
|
rs138705202
|
|
|
NM_000059.4(BRCA2):c.-18G>C
|
rs1593880555
|
|
|
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)
|
rs28897761
|
|
|
NM_000059.4(BRCA2):c.10061del (p.Ser3354fs)
|
rs2073055112
|
|
|
NM_000059.4(BRCA2):c.10070C>G (p.Thr3357Arg)
|
rs80358388
|
|
|
NM_000059.4(BRCA2):c.10074A>G (p.Gly3358=)
|
rs2137666332
|
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs)
|
rs1064792995
|
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
|
NM_000059.4(BRCA2):c.10119C>T (p.Pro3373=)
|
rs1555290047
|
|
|
NM_000059.4(BRCA2):c.10127C>G (p.Ser3376Ter)
|
rs1555290049
|
|
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
rs1064793835
|
|
|
NM_000059.4(BRCA2):c.10132G>A (p.Asp3378Asn)
|
rs1593202359
|
|
|
NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln)
|
rs80358397
|
|
|
NM_000059.4(BRCA2):c.1015G>A (p.Asp339Asn)
|
rs1555281693
|
|
|
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)
|
rs863224584
|
|
|
NM_000059.4(BRCA2):c.10162A>G (p.Thr3388Ala)
|
rs431825278
|
|
|
NM_000059.4(BRCA2):c.10166C>T (p.Ser3389Phe)
|
rs431825279
|
|
|
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn)
|
rs889208749
|
|
|
NM_000059.4(BRCA2):c.10192C>T (p.Gln3398Ter)
|
rs1566261530
|
|
|
NM_000059.4(BRCA2):c.10211G>A (p.Cys3404Tyr)
|
rs587782614
|
|
|
NM_000059.4(BRCA2):c.10212_10213del (p.Cys3404_Glu3405delinsTer)
|
rs876660845
|
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
|
|
NM_000059.4(BRCA2):c.10221T>C (p.Asn3407=)
|
rs786203441
|
|
|
NM_000059.4(BRCA2):c.10225C>T (p.Gln3409Ter)
|
rs2137667834
|
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
|
NM_000059.4(BRCA2):c.1029del (p.Lys343fs)
|
rs80359260
|
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
|
NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu)
|
rs769368098
|
|
|
NM_000059.4(BRCA2):c.1063G>C (p.Val355Leu)
|
rs2072403612
|
|
|
NM_000059.4(BRCA2):c.1066T>A (p.Ser356Thr)
|
rs398122722
|
|
|
NM_000059.4(BRCA2):c.1074G>T (p.Val358=)
|
rs276174805
|
|
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
rs80358407
|
|
|
NM_000059.4(BRCA2):c.1103C>G (p.Ser368Ter)
|
rs80358407
|
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
|
NM_000059.4(BRCA2):c.1138del (p.Ser380fs)
|
rs80359264
|
|
|
NM_000059.4(BRCA2):c.114A>G (p.Glu38=)
|
rs1555280345
|
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter)
|
rs786201237
|
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
|
NM_000059.4(BRCA2):c.1205del (p.Gly402fs)
|
rs397507265
|
|
|
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)
|
rs80358414
|
|
|
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)
|
rs80358414
|
|
|
NM_000059.4(BRCA2):c.1216_1219delinsACCG (p.Ala406_Gln407delinsThrGlu)
|
rs886037742
|
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
|
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr)
|
rs79597821
|
|
|
NM_000059.4(BRCA2):c.1233del (p.Leu413fs)
|
rs2072407210
|
|
|
NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu)
|
rs876659628
|
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
|
NM_000059.4(BRCA2):c.123C>T (p.Pro41=)
|
rs786201783
|
|
|
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=)
|
rs1052409595
|
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
|
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter)
|
rs80358419
|
|
|
NM_000059.4(BRCA2):c.1265del (p.Asn422fs)
|
rs80359273
|
|
|
NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr)
|
rs1421854019
|
|
|
NM_000059.4(BRCA2):c.1278del (p.Asp427fs)
|
rs80359274
|
|
|
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser)
|
rs2072285447
|
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
|
NM_000059.4(BRCA2):c.1302A>G (p.Lys434=)
|
rs200552004
|
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
|
NM_000059.4(BRCA2):c.1314T>C (p.Asp438=)
|
rs2072409358
|
|
|
NM_000059.4(BRCA2):c.1317T>G (p.Phe439Leu)
|
rs1555281834
|
|
|
NM_000059.4(BRCA2):c.1321_1324del (p.Thr441fs)
|
rs1064793572
|
|
|
NM_000059.4(BRCA2):c.1322C>T (p.Thr441Ile)
|
rs1064793062
|
|
|
NM_000059.4(BRCA2):c.1353C>T (p.Ser451=)
|
rs1593892607
|
|
|
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile)
|
rs80358424
|
|
|
NM_000059.4(BRCA2):c.1354C>T (p.Leu452=)
|
rs80358424
|
|
|
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)
|
rs1270441968
|
|
|
NM_000059.4(BRCA2):c.1379del (p.Asn460fs)
|
rs1064793945
|
|
|
NM_000059.4(BRCA2):c.1388C>G (p.Thr463Arg)
|
rs151011453
|
|
|
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)
|
rs80359283
|
|
|
NM_000059.4(BRCA2):c.1392G>T (p.Val464=)
|
rs1060504613
|
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
|
NM_000059.4(BRCA2):c.1401G>C (p.Lys467Asn)
|
rs276174808
|
|
|
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)
|
rs80358429
|
|
|
NM_000059.4(BRCA2):c.1424A>T (p.Glu475Val)
|
rs1213277350
|
|
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
rs1555281911
|
|
|
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)
|
rs80358432
|
|
|
NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg)
|
rs1593892915
|
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
|
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu)
|
rs786202916
|
|
|
NM_000059.4(BRCA2):c.1478del (p.Pro493fs)
|
rs2072414250
|
|
|
NM_000059.4(BRCA2):c.1481del (p.Val494fs)
|
|
|
|
NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro)
|
rs80358437
|
|
|
NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe)
|
rs397507269
|
|
|
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys)
|
rs886037807
|
|
|
NM_000059.4(BRCA2):c.1511_1512del (p.Ser504fs)
|
rs80359286
|
|
|
NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly)
|
rs2072416288
|
|
|
NM_000059.4(BRCA2):c.1560T>C (p.Phe520=)
|
rs1566223850
|
|
|
NM_000059.4(BRCA2):c.1593del (p.Glu532fs)
|
rs397507272
|
|
|
NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr)
|
rs397507273
|
|
|
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)
|
rs80358446
|
|
|
NM_000059.4(BRCA2):c.1627C>T (p.His543Tyr)
|
rs80358446
|
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
|
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala)
|
rs80358447
|
|
|
NM_000059.4(BRCA2):c.1641A>G (p.Ser547=)
|
rs786203659
|
|
|
NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter)
|
rs1555281999
|
|
|
NM_000059.4(BRCA2):c.1654del (p.Ser552fs)
|
rs80359297
|
|
|
NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr)
|
rs1566224045
|
|
|
NM_000059.4(BRCA2):c.1660T>C (p.Cys554Arg)
|
rs786202149
|
|
|
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)
|
rs587781794
|
|
|
NM_000059.4(BRCA2):c.1668T>G (p.Asn556Lys)
|
|
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
|
NM_000059.4(BRCA2):c.1695C>T (p.Ala565=)
|
rs2072419915
|
|
|
NM_000059.4(BRCA2):c.1712del (p.Ser571fs)
|
rs2137474153
|
|
|
NM_000059.4(BRCA2):c.1713T>C (p.Ser571=)
|
rs1566224162
|
|
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
rs587782713
|
|
|
NM_000059.4(BRCA2):c.1716A>G (p.Val572=)
|
rs1555282031
|
|
|
NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly)
|
rs1262187089
|
|
|
NM_000059.4(BRCA2):c.1719T>C (p.Ala573=)
|
rs1450934154
|
|
|
NM_000059.4(BRCA2):c.171del (p.Asn56_Tyr57insTer)
|
rs1555280367
|
|
|
NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys)
|
rs1555282035
|
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
|
NM_000059.4(BRCA2):c.1734T>C (p.Gly578=)
|
rs1555282038
|
|
|
NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter)
|
rs1131692274
|
|
|
NM_000059.4(BRCA2):c.1754del (p.Lys585fs)
|
rs80359301
|
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
|
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu)
|
rs397507275
|
|
|
NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter)
|
rs397507275
|
|
|
NM_000059.4(BRCA2):c.1762_1766del (p.Asn588fs)
|
rs80359303
|
|
|
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)
|
rs80359303
|
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
|
NM_000059.4(BRCA2):c.1784A>G (p.His595Arg)
|
rs80358460
|
|
|
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)
|
rs886040389
|
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
|
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)
|
rs765924757
|
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
|
NM_000059.4(BRCA2):c.1819A>T (p.Lys607Ter)
|
rs80358471
|
|
|
NM_000059.4(BRCA2):c.1820A>G (p.Lys607Arg)
|
rs55962656
|
|
|
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu)
|
rs80358472
|
|
|
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)
|
rs80358473
|
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
|
NM_000059.4(BRCA2):c.1836A>G (p.Glu612=)
|
rs1049486589
|
|
|
NM_000059.4(BRCA2):c.1841T>C (p.Ile614Thr)
|
rs1566224476
|
|
|
NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs)
|
rs80359312
|
|
|
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)
|
rs80359312
|
|
|
NM_000059.4(BRCA2):c.1846del (p.Cys616fs)
|
rs1566224496
|
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
|
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter)
|
rs80358476
|
|
|
NM_000059.4(BRCA2):c.1861_1863delinsAGC (p.Glu621Ser)
|
rs2072424315
|
|
|
NM_000059.4(BRCA2):c.1865C>A (p.Ala622Glu)
|
rs80358477
|
|
|
NM_000059.4(BRCA2):c.1876G>A (p.Glu626Lys)
|
rs1566224551
|
|
|
NM_000059.4(BRCA2):c.1882C>T (p.Pro628Ser)
|
rs1163156807
|
|
|
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)
|
rs80359314
|
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
|
NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly)
|
rs876659192
|
|
|
NM_000059.4(BRCA2):c.1896A>C (p.Ala632=)
|
rs1406171492
|
|
|
NM_000059.4(BRCA2):c.1909+11_1909+12insA
|
rs2072425470
|
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
|
NM_000059.4(BRCA2):c.1909+9G>T
|
rs794726969
|
|
|
NM_000059.4(BRCA2):c.1910-1G>T
|
rs1566225769
|
|
|
NM_000059.4(BRCA2):c.1910-7del
|
rs2137481686
|
|
|
NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)
|
rs397507615
|
|
|
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
|
|
|
|
NM_000059.4(BRCA2):c.1923T>C (p.Ser641=)
|
rs1057522492
|
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
|
NM_000059.4(BRCA2):c.1939T>C (p.Cys647Arg)
|
rs1555282367
|
|
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
rs398122735
|
|
|
NM_000059.4(BRCA2):c.194C>T (p.Pro65Leu)
|
rs1566215861
|
|
|
NM_000059.4(BRCA2):c.1971G>T (p.Leu657Phe)
|
|
|
|
NM_000059.4(BRCA2):c.200G>C (p.Arg67Thr)
|
rs1239929428
|
|
|
NM_000059.4(BRCA2):c.201G>A (p.Arg67=)
|
rs1012688095
|
|
|
NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala)
|
rs1039304689
|
|
|
NM_000059.4(BRCA2):c.2044A>C (p.Ile682Leu)
|
rs398122738
|
|
|
NM_000059.4(BRCA2):c.204A>G (p.Lys68=)
|
rs1555280379
|
|
|
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)
|
rs587782780
|
|
|
NM_000059.4(BRCA2):c.205C>A (p.Pro69Thr)
|
rs876658614
|
|
|
NM_000059.4(BRCA2):c.2070A>G (p.Glu690=)
|
|
|
|
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg)
|
rs878853558
|
|
|
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn)
|
rs876659230
|
|
|
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)
|
rs878853559
|
|
|
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His)
|
rs80358486
|
|
|
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)
|
rs80359324
|
|
|
NM_000059.4(BRCA2):c.2106del (p.Thr703fs)
|
rs2072450488
|
|
|
NM_000059.4(BRCA2):c.2119G>A (p.Asp707Asn)
|
rs80358487
|
|
|
NM_000059.4(BRCA2):c.2131T>C (p.Cys711Arg)
|
|
|
|
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro)
|
rs80358490
|
|
|
NM_000059.4(BRCA2):c.2157T>C (p.Asn719=)
|
rs1064797382
|
|
|
NM_000059.4(BRCA2):c.2176del (p.Val726fs)
|
rs1555282499
|
|
|
NM_000059.4(BRCA2):c.2181A>C (p.Ser727=)
|
rs876660424
|
|
|
NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile)
|
rs876658303
|
|
|
NM_000059.4(BRCA2):c.2206G>A (p.Ala736Thr)
|
rs730881513
|
|
|
NM_000059.4(BRCA2):c.2211A>G (p.Ala737=)
|
rs587780647
|
|
|
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
|
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs)
|
rs886040416
|
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
|
NM_000059.4(BRCA2):c.2262A>G (p.Gln754=)
|
rs1057520621
|
|
|
NM_000059.4(BRCA2):c.228A>G (p.Ser76=)
|
rs2138705028
|
|
|
NM_000059.4(BRCA2):c.2300G>C (p.Ser767Thr)
|
|
|
|
NM_000059.4(BRCA2):c.2308A>G (p.Ile770Val)
|
rs1593896607
|
|
|
NM_000059.4(BRCA2):c.230C>G (p.Thr77Ser)
|
rs1003162870
|
|
|
NM_000059.4(BRCA2):c.230C>T (p.Thr77Ile)
|
rs1003162870
|
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
|
NM_000059.4(BRCA2):c.2333T>C (p.Val778Ala)
|
rs1064793704
|
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
|
NM_000059.4(BRCA2):c.2341A>C (p.Asn781His)
|
rs587782485
|
|
|
NM_000059.4(BRCA2):c.2344C>T (p.Leu782=)
|
rs749810048
|
|
|
NM_000059.4(BRCA2):c.2345T>G (p.Leu782Arg)
|
rs876661019
|
|
|
NM_000059.4(BRCA2):c.2361A>C (p.Arg787Ser)
|
|
|
|
NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser)
|
rs1060502434
|
|
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
rs398122746
|
|
|
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)
|
rs80358503
|
|
|
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln)
|
rs587782737
|
|
|
NM_000059.4(BRCA2):c.2390A>G (p.Lys797Arg)
|
rs2072456610
|
|
|
NM_000059.4(BRCA2):c.2400_2401del (p.Asn801fs)
|
rs1566226658
|
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
|
NM_000059.4(BRCA2):c.2418T>G (p.Asp806Glu)
|
rs1131692107
|
|
|
NM_000059.4(BRCA2):c.2419G>A (p.Val807Ile)
|
rs2137486258
|
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
|
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)
|
rs397507285
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser)
|
rs1593897016
|
|
|
NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys)
|
rs1566226803
|
|
|
NM_000059.4(BRCA2):c.2480A>G (p.Asn827Ser)
|
rs1566226814
|
|
|
NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)
|
rs397507286
|
|
|
NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu)
|
rs1270048702
|
|
|
NM_000059.4(BRCA2):c.249G>C (p.Glu83Asp)
|
rs1442324599
|
|
|
NM_000059.4(BRCA2):c.24_25delinsTT (p.Arg8_Pro9delinsSerSer)
|
|
|
|
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)
|
rs80358515
|
|
|
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)
|
rs587778125
|
|
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
rs587781915
|
|
|
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)
|
rs770778164
|
|
|
NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)
|
rs80358517
|
|
|
NM_000059.4(BRCA2):c.2545G>T (p.Val849Leu)
|
rs786202105
|
|
|
NM_000059.4(BRCA2):c.2548_2549insCC (p.Gln850fs)
|
|
|
|
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs)
|
rs80359334
|
|
|
NM_000059.4(BRCA2):c.2567A>G (p.Asn856Ser)
|
|
|
|
NM_000059.4(BRCA2):c.2580C>G (p.Ile860Met)
|
rs1593897261
|
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
|
NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg)
|
rs876659257
|
|
|
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)
|
rs80359335
|
|
|
NM_000059.4(BRCA2):c.258G>A (p.Leu86=)
|
rs2138705379
|
|
|
NM_000059.4(BRCA2):c.2600C>G (p.Thr867Ser)
|
rs2072460919
|
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
|
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala)
|
rs80358524
|
|
|
NM_000059.4(BRCA2):c.2633A>G (p.Asp878Gly)
|
rs765618026
|
|
|
NM_000059.4(BRCA2):c.2656A>C (p.Asn886His)
|
|
|
|
NM_000059.4(BRCA2):c.2657del (p.Asn886fs)
|
rs886040439
|
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
|
NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp)
|
rs1593897497
|
|
|
NM_000059.4(BRCA2):c.2679A>G (p.Gln893=)
|
rs786203640
|
|
|
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)
|
rs786203045
|
|
|
NM_000059.4(BRCA2):c.2687_2688insGA (p.Asn896fs)
|
rs1555282795
|
|
|
NM_000059.4(BRCA2):c.2692_2696del (p.Glu897_Arg898insTer)
|
rs398122752
|
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
|
NM_000059.4(BRCA2):c.2700T>C (p.Asn900=)
|
rs1593897567
|
|
|
NM_000059.4(BRCA2):c.2701del (p.Ala902fs)
|
rs397507637
|
|
|
NM_000059.4(BRCA2):c.2703T>A (p.Leu901=)
|
rs786201627
|
|
|
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val)
|
rs749258007
|
|
|
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser)
|
rs730881515
|
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
|
NM_000059.4(BRCA2):c.2734A>G (p.Thr912Ala)
|
rs1555282813
|
|
|
NM_000059.4(BRCA2):c.2749G>A (p.Val917Ile)
|
rs1555282822
|
|
|
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)
|
rs80358529
|
|
|
NM_000059.4(BRCA2):c.2774_2775del (p.Ser925fs)
|
rs397507641
|
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
|
NM_000059.4(BRCA2):c.2786dup (p.Leu929fs)
|
rs80359347
|
|
|
NM_000059.4(BRCA2):c.2787A>G (p.Leu929=)
|
rs878853564
|
|
|
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)
|
rs786201315
|
|
|
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs)
|
rs80359348
|
|
|
NM_000059.4(BRCA2):c.2799A>G (p.Thr933=)
|
rs2072465072
|
|
|
NM_000059.4(BRCA2):c.279T>A (p.Ser93=)
|
rs1555280429
|
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.2808del (p.Lys936fs)
|
rs398122753
|
|
|
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)
|
rs80358532
|
|
|
NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg)
|
rs1057520249
|
|
|
NM_000059.4(BRCA2):c.2820A>G (p.Gln940=)
|
rs771061558
|
|
|
NM_000059.4(BRCA2):c.2833_2834insTT (p.Lys945fs)
|
rs80359355
|
|
|
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)
|
rs80359356
|
|
|
NM_000059.4(BRCA2):c.2836G>C (p.Asp946His)
|
rs80358534
|
|
|
NM_000059.4(BRCA2):c.2836_2837del (p.Asp946fs)
|
rs80359357
|
|
|
NM_000059.4(BRCA2):c.2836del (p.Asp946fs)
|
rs80359358
|
|
|
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala)
|
rs730881517
|
|
|
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs)
|
rs397507644
|
|
|
NM_000059.4(BRCA2):c.2861A>G (p.Glu954Gly)
|
rs1555282915
|
|
|
NM_000059.4(BRCA2):c.2886T>C (p.His962=)
|
rs786202807
|
|
|
NM_000059.4(BRCA2):c.2886_3114del (p.Ile963fs)
|
rs2072467292
|
|
|
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
|
rs2072467220
|
|
|
NM_000059.4(BRCA2):c.2892A>G (p.Lys964=)
|
rs587778119
|
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
|
NM_000059.4(BRCA2):c.2895G>C (p.Met965Ile)
|
rs1555282929
|
|
|
NM_000059.4(BRCA2):c.2899_2900del (p.Leu967fs)
|
rs80359361
|
|
|
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)
|
rs397507646
|
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
|
NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter)
|
rs886038080
|
|
|
NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)
|
rs80359362
|
|
|
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)
|
rs929538989
|
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
|
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr)
|
rs397507298
|
|
|
NM_000059.4(BRCA2):c.2940T>C (p.Asp980=)
|
rs1555282961
|
|
|
NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg)
|
rs398122757
|
|
|
NM_000059.4(BRCA2):c.2951A>G (p.Glu984Gly)
|
rs767964776
|
|
|
NM_000059.4(BRCA2):c.2955A>G (p.Lys985=)
|
rs1555282971
|
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
|
NM_000059.4(BRCA2):c.2968A>G (p.Met990Val)
|
rs876660083
|
|
|
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs)
|
rs886040456
|
|
|
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter)
|
rs80358544
|
|
|
NM_000059.4(BRCA2):c.2989_2990del (p.Leu997fs)
|
rs1555282990
|
|
|
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu)
|
rs1555282999
|
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
|
NM_000059.4(BRCA2):c.29C>A (p.Thr10Lys)
|
rs1057519494
|
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
|
NM_000059.4(BRCA2):c.3043A>G (p.Lys1015Glu)
|
|
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
|
NM_000059.4(BRCA2):c.3061del (p.Glu1021fs)
|
rs2072471318
|
|
|
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)
|
rs876658555
|
|
|
NM_000059.4(BRCA2):c.3070A>G (p.Ile1024Val)
|
rs876659687
|
|
|
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr)
|
rs764921920
|
|
|
NM_000059.4(BRCA2):c.3074AGA[3] (p.Lys1026dup)
|
rs1342774938
|
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
|
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)
|
rs1057517566
|
|
|
NM_000059.4(BRCA2):c.3081C>T (p.Ser1027=)
|
|
|
|
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)
|
rs2072472083
|
|
|
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer)
|
rs1555283051
|
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
|
NM_000059.4(BRCA2):c.3116CTA[1] (p.Thr1040del)
|
rs1064795908
|
|
|
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr)
|
rs276174832
|
|
|
NM_000059.4(BRCA2):c.3154G>A (p.Ala1052Thr)
|
rs730881520
|
|
|
NM_000059.4(BRCA2):c.3154G>C (p.Ala1052Pro)
|
rs730881520
|
|
|
NM_000059.4(BRCA2):c.316+2T>C
|
rs81002805
|
|
|
NM_000059.4(BRCA2):c.316+5G>C
|
rs81002840
|
|
|
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)
|
rs79728106
|
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
|
NM_000059.4(BRCA2):c.3169A>G (p.Lys1057Glu)
|
rs1566227924
|
|
|
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)
|
rs786201916
|
|
|
NM_000059.4(BRCA2):c.317-17T>A
|
rs1593885822
|
|
|
NM_000059.4(BRCA2):c.317-19_317-12del
|
rs1555280834
|
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
|
NM_000059.4(BRCA2):c.3185C>G (p.Pro1062Arg)
|
rs564316199
|
|
|
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)
|
rs876657678
|
|
|
NM_000059.4(BRCA2):c.3189del (p.Gln1063fs)
|
|
|
|
NM_000059.4(BRCA2):c.3193A>T (p.Ile1065Phe)
|
rs2137494162
|
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
|
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)
|
rs762752733
|
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
|
NM_000059.4(BRCA2):c.3211_3212dup (p.Leu1072fs)
|
rs2137494347
|
|
|
NM_000059.4(BRCA2):c.3213T>C (p.His1071=)
|
rs863224304
|
|
|
NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter)
|
rs886040464
|
|
|
NM_000059.4(BRCA2):c.3225T>G (p.Ser1075Arg)
|
rs779228375
|
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
|
NM_000059.4(BRCA2):c.3226_3230del (p.Val1076fs)
|
rs397507659
|
|
|
NM_000059.4(BRCA2):c.3235del (p.Ser1079fs)
|
rs397507660
|
|
|
NM_000059.4(BRCA2):c.3239A>T (p.Asp1080Val)
|
|
|
|
NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr)
|
rs752871893
|
|
|
NM_000059.4(BRCA2):c.3247A>G (p.Asn1083Asp)
|
rs777994248
|
|
|
NM_000059.4(BRCA2):c.3249T>C (p.Asn1083=)
|
rs876659029
|
|
|
NM_000059.4(BRCA2):c.3252T>C (p.Ser1084=)
|
rs1060502412
|
|
|
NM_000059.4(BRCA2):c.325G>A (p.Val109Ile)
|
rs1359975493
|
|
|
NM_000059.4(BRCA2):c.3268A>G (p.Met1090Val)
|
rs398122760
|
|
|
NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile)
|
rs80358574
|
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
|
NM_000059.4(BRCA2):c.3285G>A (p.Gln1095=)
|
rs1555283147
|
|
|
NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)
|
rs397507663
|
|
|
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)
|
rs397507663
|
|
|
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)
|
rs397507306
|
|
|
NM_000059.4(BRCA2):c.3322A>C (p.Lys1108Gln)
|
rs1555283169
|
|
|
NM_000059.4(BRCA2):c.3324G>T (p.Lys1108Asn)
|
rs1555283170
|
|
|
NM_000059.4(BRCA2):c.3326del (p.Ala1109fs)
|
rs398122762
|
|
|
NM_000059.4(BRCA2):c.3329A>C (p.Glu1110Ala)
|
rs587782072
|
|
|
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)
|
rs398122763
|
|
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
rs80358579
|
|
|
NM_000059.4(BRCA2):c.3365del (p.Gly1122fs)
|
rs786202160
|
|
|
NM_000059.4(BRCA2):c.3381T>G (p.Phe1127Leu)
|
rs1057522933
|
|
|
NM_000059.4(BRCA2):c.3381del (p.Phe1127fs)
|
rs397507666
|
|
|
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala)
|
rs730881523
|
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
|
NM_000059.4(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg)
|
rs1060502496
|
|
|
NM_000059.4(BRCA2):c.3402C>T (p.Ser1134=)
|
rs1593899435
|
|
|
NM_000059.4(BRCA2):c.3403T>G (p.Tyr1135Asp)
|
rs80358583
|
|
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
rs876659258
|
|
|
NM_000059.4(BRCA2):c.3406A>G (p.Ile1136Val)
|
rs876658683
|
|
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
rs587778129
|
|
|
NM_000059.4(BRCA2):c.3419G>A (p.Ser1140Asn)
|
rs80358585
|
|
|
NM_000059.4(BRCA2):c.341A>C (p.His114Pro)
|
rs80358586
|
|
|
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile)
|
rs397507308
|
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
|
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)
|
rs80358588
|
|
|
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg)
|
rs200808363
|
|
|
NM_000059.4(BRCA2):c.344_349delinsCTA (p.Lys115_Leu117delinsThrIle)
|
rs2137446242
|
|
|
NM_000059.4(BRCA2):c.3450T>C (p.Thr1150=)
|
rs2072480743
|
|
|
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)
|
rs80358593
|
|
|
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg)
|
rs80358594
|
|
|
NM_000059.4(BRCA2):c.3459G>A (p.Lys1153=)
|
|
|
|
NM_000059.4(BRCA2):c.3462C>G (p.Thr1154=)
|
rs4986856
|
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
|
NM_000059.4(BRCA2):c.348T>G (p.Ser116Arg)
|
rs397507309
|
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
|
NM_000059.4(BRCA2):c.3506A>C (p.Asn1169Thr)
|
rs1194031580
|
|
|
NM_000059.4(BRCA2):c.3506A>G (p.Asn1169Ser)
|
rs1194031580
|
|
|
NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu)
|
rs1566228707
|
|
|
NM_000059.4(BRCA2):c.3513A>G (p.Pro1171=)
|
rs1057521874
|
|
|
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)
|
rs80358600
|
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
|
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)
|
rs80358605
|
|
|
NM_000059.4(BRCA2):c.3570del (p.Lys1191fs)
|
rs80359390
|
|
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
rs431825310
|
|
|
NM_000059.4(BRCA2):c.3586T>C (p.Leu1196=)
|
rs1449762196
|
|
|
NM_000059.4(BRCA2):c.3593A>C (p.Asn1198Thr)
|
rs780927790
|
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
|
NM_000059.4(BRCA2):c.3600T>C (p.Cys1200=)
|
rs786203359
|
|
|
NM_000059.4(BRCA2):c.3612T>C (p.Ala1204=)
|
rs863224305
|
|
|
NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu)
|
rs786202991
|
|
|
NM_000059.4(BRCA2):c.3636T>C (p.Asn1212=)
|
rs1555283324
|
|
|
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)
|
rs864622134
|
|
|
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr)
|
rs397507313
|
|
|
NM_000059.4(BRCA2):c.3676A>C (p.Lys1226Gln)
|
rs730881525
|
|
|
NM_000059.4(BRCA2):c.3681G>A (p.Leu1227=)
|
rs758007548
|
|
|
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)
|
rs869312759
|
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
rs1555283366
|
|
|
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)
|
rs34575057
|
|
|
NM_000059.4(BRCA2):c.3719dup (p.Phe1241fs)
|
rs2137499319
|
|
|
NM_000059.4(BRCA2):c.3728A>C (p.Asp1243Ala)
|
|
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
|
NM_000059.4(BRCA2):c.3743G>T (p.Ser1248Ile)
|
rs1555283383
|
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
|
NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr)
|
rs1361496246
|
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
|
NM_000059.4(BRCA2):c.3765A>G (p.Val1255=)
|
rs41293483
|
|
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
rs1555280859
|
|
|
NM_000059.4(BRCA2):c.3784T>G (p.Ser1262Ala)
|
rs2072488451
|
|
|
NM_000059.4(BRCA2):c.3786A>C (p.Ser1262=)
|
rs1042077901
|
|
|
NM_000059.4(BRCA2):c.3789T>C (p.Ser1263=)
|
rs876659185
|
|
|
NM_000059.4(BRCA2):c.3796C>T (p.His1266Tyr)
|
rs1566229153
|
|
|
NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg)
|
rs1555283399
|
|
|
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)
|
rs80358622
|
|
|
NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)
|
rs80358622
|
|
|
NM_000059.4(BRCA2):c.3807_3808inv (p.Val1270Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3816G>A (p.Met1272Ile)
|
rs1469541725
|
|
|
NM_000059.4(BRCA2):c.3822G>A (p.Lys1274=)
|
rs1555283410
|
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
|
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys)
|
rs878853575
|
|
|
NM_000059.4(BRCA2):c.3833A>G (p.His1278Arg)
|
rs1566229217
|
|
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
rs80358627
|
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
|
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg)
|
rs777895333
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3860_3863del (p.Asn1287fs)
|
rs80359410
|
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del)
|
rs276174837
|
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
|
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)
|
rs398122772
|
|
|
NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)
|
rs80358632
|
|
|
NM_000059.4(BRCA2):c.3887A>G (p.Asn1296Ser)
|
|
|
|
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile)
|
rs876659209
|
|
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
rs1455648880
|
|
|
NM_000059.4(BRCA2):c.3911C>G (p.Thr1304Ser)
|
rs1555283472
|
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
|
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)
|
rs397507698
|
|
|
NM_000059.4(BRCA2):c.3922G>A (p.Glu1308Lys)
|
rs80358638
|
|
|
NM_000059.4(BRCA2):c.3935dup (p.Asn1312fs)
|
rs1566229411
|
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
|
NM_000059.4(BRCA2):c.3939_3943del (p.Tyr1313_Arg1315delinsTer)
|
rs2137501409
|
|
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
rs398122773
|
|
|
NM_000059.4(BRCA2):c.3958_3963del (p.Glu1320_Asp1321del)
|
rs2137501543
|
|
|
NM_000059.4(BRCA2):c.3964A>G (p.Asn1322Asp)
|
rs879255449
|
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
|
NM_000059.4(BRCA2):c.3966C>T (p.Asn1322=)
|
rs80358647
|
|
|
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del)
|
rs397507319
|
|
|
NM_000059.4(BRCA2):c.3968_3971del (p.Lys1323fs)
|
rs886040505
|
|
|
NM_000059.4(BRCA2):c.3970T>C (p.Tyr1324His)
|
rs879254067
|
|
|
NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter)
|
rs1131692119
|
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
rs863224588
|
|
|
NM_000059.4(BRCA2):c.4001T>A (p.Leu1334Ter)
|
rs80358652
|
|
|
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs)
|
rs878853577
|
|
|
NM_000059.4(BRCA2):c.4019A>T (p.Asp1340Val)
|
rs1555283506
|
|
|
NM_000059.4(BRCA2):c.4022C>A (p.Ser1341Ter)
|
rs1135401901
|
|
|
NM_000059.4(BRCA2):c.4032T>C (p.Asn1344=)
|
rs1555283514
|
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
|
NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)
|
rs1566218217
|
|
|
NM_000059.4(BRCA2):c.4048_4051del (p.His1350fs)
|
rs80359423
|
|
|
NM_000059.4(BRCA2):c.4057del (p.Glu1353fs)
|
rs2072494571
|
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
|
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=)
|
rs768735660
|
|
|
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg)
|
rs55796504
|
|
|
NM_000059.4(BRCA2):c.4071A>G (p.Leu1357=)
|
rs140556653
|
|
|
NM_000059.4(BRCA2):c.4077T>C (p.Thr1359=)
|
rs1057520979
|
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
|
NM_000059.4(BRCA2):c.4081C>G (p.Gln1361Glu)
|
rs587780652
|
|
|
NM_000059.4(BRCA2):c.4085A>T (p.His1362Leu)
|
rs1060502441
|
|
|
NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys)
|
rs80359787
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
|
NM_000059.4(BRCA2):c.4093T>C (p.Cys1365Arg)
|
rs2137502841
|
|
|
NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala)
|
rs587781406
|
|
|
NM_000059.4(BRCA2):c.4110C>A (p.Gly1370=)
|
rs758430181
|
|
|
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
|
rs80358659
|
|
|
NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu)
|
rs864622126
|
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
|
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)
|
rs80359430
|
|
|
NM_000059.4(BRCA2):c.4135del (p.Gln1379fs)
|
rs1555283588
|
|
|
NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs)
|
rs80359431
|
|
|
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)
|
rs276174842
|
|
|
NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)
|
rs587782157
|
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
|
NM_000059.4(BRCA2):c.4156_4157delinsTG (p.Asp1386Cys)
|
rs2072497730
|
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
|
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val)
|
rs1409088355
|
|
|
NM_000059.4(BRCA2):c.4184C>T (p.Ala1395Val)
|
rs1782230124
|
|
|
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)
|
rs28897726
|
|
|
NM_000059.4(BRCA2):c.4190A>C (p.Glu1397Ala)
|
rs1566229868
|
|
|
NM_000059.4(BRCA2):c.4193C>T (p.Ala1398Val)
|
rs2072498593
|
|
|
NM_000059.4(BRCA2):c.4194A>G (p.Ala1398=)
|
rs1355279584
|
|
|
NM_000059.4(BRCA2):c.41T>A (p.Ile14Asn)
|
rs1241704385
|
|
|
NM_000059.4(BRCA2):c.4206T>C (p.Asn1402=)
|
rs878853580
|
|
|
NM_000059.4(BRCA2):c.420T>C (p.Ser140=)
|
rs1555280871
|
|
|
NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer)
|
rs786203340
|
|
|
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)
|
rs398122777
|
|
|
NM_000059.4(BRCA2):c.4213A>G (p.Asn1405Asp)
|
rs1555283633
|
|
|
NM_000059.4(BRCA2):c.4218A>C (p.Lys1406Asn)
|
rs1555283634
|
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
|
NM_000059.4(BRCA2):c.4242G>A (p.Thr1414=)
|
rs750495335
|
|
|
NM_000059.4(BRCA2):c.4243G>C (p.Glu1415Gln)
|
rs397507327
|
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
|
NM_000059.4(BRCA2):c.425+3A>G
|
rs932657676
|
|
|
NM_000059.4(BRCA2):c.425+7_425+8insCATA
|
rs1593886125
|
|
|
NM_000059.4(BRCA2):c.4254A>G (p.Ile1418Met)
|
rs1064793378
|
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
|
NM_000059.4(BRCA2):c.426-12_426-8del
|
rs276174844
|
|
|
NM_000059.4(BRCA2):c.426-20T>G
|
rs1064795008
|
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
|
NM_000059.4(BRCA2):c.4270dup (p.Ser1424fs)
|
rs1555283672
|
|
|
NM_000059.4(BRCA2):c.4271del (p.Ser1424fs)
|
rs80359437
|
|
|
NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly)
|
rs398122780
|
|
|
NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs)
|
rs80359438
|
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
|
NM_000059.4(BRCA2):c.4288A>G (p.Thr1430Ala)
|
rs1555283691
|
|
|
NM_000059.4(BRCA2):c.4299G>C (p.Gly1433=)
|
rs1555283699
|
|
|
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs)
|
rs1566230041
|
|
|
NM_000059.4(BRCA2):c.4306_4307del (p.Asn1435_Ile1436insTer)
|
rs886040522
|
|
|
NM_000059.4(BRCA2):c.430G>T (p.Val144Phe)
|
rs876661259
|
|
|
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del)
|
rs80359442
|
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
|
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs)
|
rs1064794168
|
|
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
rs769535925
|
|
|
NM_000059.4(BRCA2):c.4320A>G (p.Lys1440=)
|
rs769535925
|
|
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
rs876659758
|
|
|
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)
|
rs80358670
|
|
|
NM_000059.4(BRCA2):c.4338T>C (p.Ile1446=)
|
rs864622144
|
|
|
NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu)
|
rs431825319
|
|
|
NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)
|
rs431825319
|
|
|
NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)
|
rs1566230144
|
|
|
NM_000059.4(BRCA2):c.4365A>G (p.Glu1455=)
|
rs1555283746
|
|
|
NM_000059.4(BRCA2):c.436C>T (p.Leu146=)
|
rs876658912
|
|
|
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)
|
rs587782185
|
|
|
NM_000059.4(BRCA2):c.4377C>G (p.Asn1459Lys)
|
rs80358673
|
|
|
NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)
|
rs539929888
|
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
|
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)
|
rs397507717
|
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
|
NM_000059.4(BRCA2):c.4408A>G (p.Ile1470Val)
|
rs2137506004
|
|
|
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)
|
rs80359446
|
|
|
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)
|
rs397507718
|
|
|
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu)
|
rs80358674
|
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
|
NM_000059.4(BRCA2):c.4416_4417del (p.Asn1473fs)
|
|
|
|
NM_000059.4(BRCA2):c.4417A>G (p.Asn1473Asp)
|
rs80358675
|
|
|
NM_000059.4(BRCA2):c.4419C>T (p.Asn1473=)
|
rs2072503843
|
|
|
NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr)
|
rs1204909245
|
|
|
NM_000059.4(BRCA2):c.4446_4451dup (p.Glu1482_Thr1483dup)
|
rs863224826
|
|
|
NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs)
|
rs80359449
|
|
|
NM_000059.4(BRCA2):c.4461A>G (p.Lys1487=)
|
rs786201350
|
|
|
NM_000059.4(BRCA2):c.4464C>A (p.His1488Gln)
|
rs786203743
|
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
|
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs)
|
rs397507334
|
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
|
NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)
|
rs80359445
|
|
|
NM_000059.4(BRCA2):c.4515C>A (p.Thr1505=)
|
rs1555283817
|
|
|
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)
|
rs80358683
|
|
|
NM_000059.4(BRCA2):c.452dup (p.Thr152fs)
|
rs2072343917
|
|
|
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)
|
rs80359457
|
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
|
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)
|
rs80358691
|
|
|
NM_000059.4(BRCA2):c.4560T>A (p.Thr1520=)
|
|
|
|
NM_000059.4(BRCA2):c.4560T>C (p.Thr1520=)
|
rs1555283847
|
|
|
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=)
|
rs206075
|
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
|
NM_000059.4(BRCA2):c.457C>T (p.Pro153Ser)
|
rs1555280950
|
|
|
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg)
|
rs80359788
|
|
|
NM_000059.4(BRCA2):c.4587dup (p.Lys1530fs)
|
rs745456776
|
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
rs1555283865
|
|
|
NM_000059.4(BRCA2):c.4612T>A (p.Ser1538Thr)
|
rs1566230812
|
|
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
rs1555283875
|
|
|
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met)
|
rs28897729
|
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
|
NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser)
|
rs587782753
|
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
|
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs)
|
rs80359460
|
|
|
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer)
|
rs2137508514
|
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
|
NM_000059.4(BRCA2):c.4638dup (p.Asp1547Ter)
|
rs80359462
|
|
|
NM_000059.4(BRCA2):c.4646A>T (p.Lys1549Ile)
|
|
|
|
NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)
|
rs397507734
|
|
|
NM_000059.4(BRCA2):c.465A>T (p.Arg155Ser)
|
rs1228857437
|
|
|
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile)
|
rs80358698
|
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
|
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs)
|
rs80359464
|
|
|
NM_000059.4(BRCA2):c.4723G>A (p.Asp1575Asn)
|
rs587782013
|
|
|
NM_000059.4(BRCA2):c.4727T>C (p.Leu1576Pro)
|
rs2072511723
|
|
|
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)
|
rs397507740
|
|
|
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val)
|
rs1555283920
|
|
|
NM_000059.4(BRCA2):c.475+14C>T
|
rs55698822
|
|
|
NM_000059.4(BRCA2):c.475+1G>A
|
rs81002797
|
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
|
NM_000059.4(BRCA2):c.475+5G>T
|
rs730881504
|
|
|
NM_000059.4(BRCA2):c.476-16del
|
|
|
|
NM_000059.4(BRCA2):c.476-2A>G
|
rs81002853
|
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
|
NM_000059.4(BRCA2):c.476-8A>G
|
rs1311844326
|
|
|
NM_000059.4(BRCA2):c.476-9dup
|
rs276174849
|
|
|
NM_000059.4(BRCA2):c.476T>C (p.Val159Ala)
|
rs81002884
|
|
|
NM_000059.4(BRCA2):c.4801_4803del (p.Asp1601del)
|
rs730881609
|
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
|
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)
|
rs587782854
|
|
|
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)
|
rs1566231194
|
|
|
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs)
|
rs80359468
|
|
|
NM_000059.4(BRCA2):c.4830G>T (p.Val1610=)
|
rs80359789
|
|
|
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg)
|
rs80358707
|
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
|
NM_000059.4(BRCA2):c.4879C>A (p.Leu1627Ile)
|
rs2137511207
|
|
|
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)
|
rs80358712
|
|
|
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)
|
rs397507748
|
|
|
NM_000059.4(BRCA2):c.489T>C (p.Ser163=)
|
rs398122787
|
|
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
rs1566231364
|
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
|
NM_000059.4(BRCA2):c.4933_4935del (p.Lys1645del)
|
rs80359472
|
|
|
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)
|
rs431825323
|
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
|
NM_000059.4(BRCA2):c.4940C>A (p.Thr1647Lys)
|
rs1593903891
|
|
|
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)
|
rs80359474
|
|
|
NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg)
|
rs565268514
|
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
|
NM_000059.4(BRCA2):c.4958C>T (p.Thr1653Ile)
|
rs1555284004
|
|
|
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)
|
rs398122789
|
|
|
NM_000059.4(BRCA2):c.4969A>G (p.Asn1657Asp)
|
rs587781599
|
|
|
NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter)
|
rs886038114
|
|
|
NM_000059.4(BRCA2):c.4981_4982insGAAT (p.Tyr1661Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile)
|
rs587781763
|
|
|
NM_000059.4(BRCA2):c.4997A>G (p.Asn1666Ser)
|
rs1344419982
|
|
|
NM_000059.4(BRCA2):c.5003C>T (p.Ala1668Val)
|
rs80358724
|
|
|
NM_000059.4(BRCA2):c.5009C>T (p.Ala1670Val)
|
rs1566231551
|
|
|
NM_000059.4(BRCA2):c.5024G>A (p.Cys1675Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
|
NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala)
|
rs80358726
|
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
|
NM_000059.4(BRCA2):c.5039C>A (p.Ser1680Tyr)
|
rs1555284041
|
|
|
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs)
|
rs80359478
|
|
|
NM_000059.4(BRCA2):c.5064dup (p.Ala1689fs)
|
rs2137513621
|
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
|
NM_000059.4(BRCA2):c.5076del (p.Trp1692fs)
|
rs876660524
|
|
|
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)
|
rs80358731
|
|
|
NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser)
|
rs80358733
|
|
|
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)
|
rs397507758
|
|
|
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs)
|
rs276174853
|
|
|
NM_000059.4(BRCA2):c.5119dup (p.Thr1707fs)
|
rs886040567
|
|
|
NM_000059.4(BRCA2):c.5120del (p.Thr1707fs)
|
rs886039318
|
|
|
NM_000059.4(BRCA2):c.5121T>C (p.Thr1707=)
|
rs1555284078
|
|
|
NM_000059.4(BRCA2):c.5125G>C (p.Asp1709His)
|
rs398122792
|
|
|
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)
|
rs398122792
|
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
|
NM_000059.4(BRCA2):c.5131G>A (p.Val1711Ile)
|
rs587782067
|
|
|
NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter)
|
rs876661056
|
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
|
NM_000059.4(BRCA2):c.516+14del
|
rs1336445194
|
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
|
NM_000059.4(BRCA2):c.516+1G>A
|
rs397507762
|
|
|
NM_000059.4(BRCA2):c.5160A>G (p.Ser1720=)
|
rs1555284089
|
|
|
NM_000059.4(BRCA2):c.517-16T>C
|
rs81002839
|
|
|
NM_000059.4(BRCA2):c.517-20A>G
|
rs1555281029
|
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
|
NM_000059.4(BRCA2):c.517-2A>T
|
rs81002858
|
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
|
NM_000059.4(BRCA2):c.518G>A (p.Gly173Asp)
|
rs28897702
|
|
|
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)
|
rs80359492
|
|
|
NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr)
|
rs80358745
|
|
|
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)
|
rs587779363
|
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
|
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs)
|
rs483353082
|
|
|
NM_000059.4(BRCA2):c.5205A>G (p.Lys1735=)
|
rs1131692115
|
|
|
NM_000059.4(BRCA2):c.5209G>A (p.Asp1737Asn)
|
|
|
|
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys)
|
rs41293469
|
|
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
rs587778120
|
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
|
NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer)
|
rs80359494
|
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
|
NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn)
|
rs771571938
|
|
|
NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu)
|
rs876659138
|
|
|
NM_000059.4(BRCA2):c.5272_5274del (p.Asn1758del)
|
rs587780655
|
|
|
NM_000059.4(BRCA2):c.5272_5286del (p.Asn1758_Tyr1762del)
|
rs758071261
|
|
|
NM_000059.4(BRCA2):c.5279C>A (p.Ser1760Ter)
|
rs80358751
|
|
|
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)
|
rs80358751
|
|
|
NM_000059.4(BRCA2):c.5284T>A (p.Tyr1762Asn)
|
rs1192019733
|
|
|
NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter)
|
rs80358754
|
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
|
NM_000059.4(BRCA2):c.5299_5307del (p.Lys1767_Asp1769del)
|
rs80359504
|
|
|
NM_000059.4(BRCA2):c.5301A>G (p.Lys1767=)
|
rs1555284161
|
|
|
NM_000059.4(BRCA2):c.5319_5342del (p.Glu1773_Glu1780del)
|
rs1593905133
|
|
|
NM_000059.4(BRCA2):c.5324T>C (p.Val1775Ala)
|
rs1555284172
|
|
|
NM_000059.4(BRCA2):c.5335G>A (p.Val1779Ile)
|
rs431825329
|
|
|
NM_000059.4(BRCA2):c.5349A>G (p.Lys1783=)
|
|
|
|
NM_000059.4(BRCA2):c.534del (p.Lys178fs)
|
rs1191198388
|
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5350_5351delinsT (p.Asn1784fs)
|
rs397507779
|
|
|
NM_000059.4(BRCA2):c.5351A>T (p.Asn1784Ile)
|
|
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala)
|
rs786202394
|
|
|
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)
|
rs587781849
|
|
|
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu)
|
rs587782240
|
|
|
NM_000059.4(BRCA2):c.5380G>C (p.Val1794Leu)
|
|
|
|
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr)
|
rs80358761
|
|
|
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)
|
rs80359512
|
|
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
rs370252983
|
|
|
NM_000059.4(BRCA2):c.5419G>C (p.Asp1807His)
|
|
|
|
NM_000059.4(BRCA2):c.5422A>G (p.Ile1808Val)
|
|
|
|
NM_000059.4(BRCA2):c.542C>T (p.Ser181Phe)
|
rs1555281052
|
|
|
NM_000059.4(BRCA2):c.5430T>G (p.Val1810=)
|
rs1060504596
|
|
|
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter)
|
rs80358767
|
|
|
NM_000059.4(BRCA2):c.5438T>C (p.Leu1813Pro)
|
rs398122532
|
|
|
NM_000059.4(BRCA2):c.5439del (p.Leu1813_Val1814insTer)
|
rs397507785
|
|
|
NM_000059.4(BRCA2):c.5454del (p.Cys1820fs)
|
rs80359513
|
|
|
NM_000059.4(BRCA2):c.5456C>T (p.Pro1819Leu)
|
rs876659214
|
|
|
NM_000059.4(BRCA2):c.5458T>C (p.Cys1820Arg)
|
rs1566232493
|
|
|
NM_000059.4(BRCA2):c.5458T>G (p.Cys1820Gly)
|
rs1566232493
|
|
|
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile)
|
rs587781580
|
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
|
NM_000059.4(BRCA2):c.5483A>G (p.Lys1828Arg)
|
rs879255459
|
|
|
NM_000059.4(BRCA2):c.548G>A (p.Ser183Asn)
|
rs863224593
|
|
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
rs587782007
|
|
|
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)
|
rs138489917
|
|
|
NM_000059.4(BRCA2):c.5505T>G (p.Asn1835Lys)
|
rs80358772
|
|
|
NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys)
|
rs80358774
|
|
|
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)
|
rs80358775
|
|
|
NM_000059.4(BRCA2):c.5529A>T (p.Ala1843=)
|
rs372951842
|
|
|
NM_000059.4(BRCA2):c.5537T>G (p.Ile1846Arg)
|
rs763330257
|
|
|
NM_000059.4(BRCA2):c.553G>A (p.Gly185Arg)
|
rs2072349608
|
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
|
NM_000059.4(BRCA2):c.5559T>C (p.Cys1853=)
|
rs1566232673
|
|
|
NM_000059.4(BRCA2):c.5569_5573del (p.Glu1857fs)
|
rs397507788
|
|
|
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)
|
rs397507354
|
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
|
NM_000059.4(BRCA2):c.5584_5587del (p.Val1862fs)
|
rs398122535
|
|
|
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs)
|
rs80359523
|
|
|
NM_000059.4(BRCA2):c.5592_5593del (p.Phe1866fs)
|
rs397507791
|
|
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
rs80358779
|
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
|
NM_000059.4(BRCA2):c.5613del (p.Ser1871fs)
|
rs2072533506
|
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
|
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn)
|
rs1316343192
|
|
|
NM_000059.4(BRCA2):c.5631C>T (p.Asn1877=)
|
rs374326934
|
|
|
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=)
|
rs80358784
|
|
|
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)
|
rs55996097
|
|
|
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly)
|
rs398122536
|
|
|
NM_000059.4(BRCA2):c.5641_5644del (p.Lys1881fs)
|
rs276174860
|
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
|
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
rs80358787
|
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
|
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter)
|
rs80358789
|
|
|
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)
|
rs80358790
|
|
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
rs786202618
|
|
|
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)
|
rs80358793
|
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
|
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser)
|
rs786203948
|
|
|
NM_000059.4(BRCA2):c.5675del (p.Gly1892fs)
|
rs1593906164
|
|
|
NM_000059.4(BRCA2):c.5678G>T (p.Cys1893Phe)
|
rs2072535635
|
|
|
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)
|
rs80359527
|
|
|
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5682C>T (p.Tyr1894=)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)
|
rs398122539
|
|
|
NM_000059.4(BRCA2):c.5700A>G (p.Ser1900=)
|
rs730881591
|
|
|
NM_000059.4(BRCA2):c.5708T>C (p.Ile1903Thr)
|
rs149474191
|
|
|
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer)
|
rs80359530
|
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
|
NM_000059.4(BRCA2):c.5731G>A (p.Asp1911Asn)
|
rs2072537137
|
|
|
NM_000059.4(BRCA2):c.5734G>A (p.Glu1912Lys)
|
rs397507800
|
|
|
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly)
|
rs80358799
|
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
|
NM_000059.4(BRCA2):c.5753A>T (p.His1918Leu)
|
|
|
|
NM_000059.4(BRCA2):c.575T>A (p.Met192Lys)
|
rs80358805
|
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
|
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)
|
rs80359534
|
|
|
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs)
|
rs80359535
|
|
|
NM_000059.4(BRCA2):c.5773_5774del (p.Gln1925fs)
|
rs2072538071
|
|
|
NM_000059.4(BRCA2):c.5777G>A (p.Ser1926Asn)
|
rs869320795
|
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
|
NM_000059.4(BRCA2):c.5808_5809del (p.Met1936fs)
|
|
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.5821A>G (p.Lys1941Glu)
|
rs1555284411
|
|
|
NM_000059.4(BRCA2):c.5831A>C (p.Lys1944Thr)
|
rs2137521445
|
|
|
NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala)
|
rs80358812
|
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
|
NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)
|
rs80359543
|
|
|
NM_000059.4(BRCA2):c.5857del (p.Glu1953fs)
|
rs80359545
|
|
|
NM_000059.4(BRCA2):c.5863del (p.Ser1955fs)
|
rs80359546
|
|
|
NM_000059.4(BRCA2):c.5867A>G (p.Asp1956Gly)
|
rs1309562690
|
|
|
NM_000059.4(BRCA2):c.5879GTA[1] (p.Ser1961del)
|
rs1026127409
|
|
|
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)
|
rs80358818
|
|
|
NM_000059.4(BRCA2):c.5895T>G (p.Leu1965=)
|
rs786201478
|
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
|
NM_000059.4(BRCA2):c.5917A>C (p.Asn1973His)
|
rs1555284460
|
|
|
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr)
|
rs28897738
|
|
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
rs80358828
|
|
|
NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)
|
rs376582345
|
|
|
NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter)
|
rs886038134
|
|
|
NM_000059.4(BRCA2):c.5989A>G (p.Arg1997Gly)
|
rs1555284492
|
|
|
NM_000059.4(BRCA2):c.5990G>A (p.Arg1997Lys)
|
rs1064793478
|
|
|
NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs)
|
rs1057518635
|
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
|
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)
|
rs80358838
|
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
|
NM_000059.4(BRCA2):c.6045del (p.Leu2015fs)
|
rs2072544996
|
|
|
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)
|
rs398122546
|
|
|
NM_000059.4(BRCA2):c.6062A>G (p.His2021Arg)
|
rs780621780
|
|
|
NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg)
|
rs80358845
|
|
|
NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro)
|
rs587782249
|
|
|
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs)
|
rs80359557
|
|
|
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs)
|
rs397507826
|
|
|
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys)
|
rs431825337
|
|
|
NM_000059.4(BRCA2):c.6088A>G (p.Asn2030Asp)
|
rs1555284539
|
|
|
NM_000059.4(BRCA2):c.610del (p.Ser205fs)
|
rs80359560
|
|
|
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)
|
rs1555284559
|
|
|
NM_000059.4(BRCA2):c.6117A>G (p.Leu2039=)
|
rs1566233950
|
|
|
NM_000059.4(BRCA2):c.6119T>C (p.Ile2040Thr)
|
rs876659473
|
|
|
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)
|
rs1160083526
|
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
|
NM_000059.4(BRCA2):c.6131G>A (p.Gly2044Asp)
|
rs56191579
|
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
|
NM_000059.4(BRCA2):c.6132C>A (p.Gly2044=)
|
rs1057520745
|
|
|
NM_000059.4(BRCA2):c.6140dup (p.Tyr2047Ter)
|
|
|
|
NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter)
|
rs1466688245
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
|
NM_000059.4(BRCA2):c.6172T>C (p.Phe2058Leu)
|
rs80358857
|
|
|
NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr)
|
rs1555284585
|
|
|
NM_000059.4(BRCA2):c.6195A>G (p.Gln2065=)
|
rs876658875
|
|
|
NM_000059.4(BRCA2):c.6198_6199del (p.Ser2067fs)
|
rs80359564
|
|
|
NM_000059.4(BRCA2):c.6201C>G (p.Ser2067=)
|
rs876659049
|
|
|
NM_000059.4(BRCA2):c.6201del (p.Ile2068fs)
|
rs80359565
|
|
|
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)
|
rs276174866
|
|
|
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp)
|
rs1555284596
|
|
|
NM_000059.4(BRCA2):c.6216C>T (p.Ser2072=)
|
rs786201410
|
|
|
NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)
|
rs80359567
|
|
|
NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln)
|
rs1555284601
|
|
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
rs80358863
|
|
|
NM_000059.4(BRCA2):c.6226del (p.Val2076fs)
|
rs2072549559
|
|
|
NM_000059.4(BRCA2):c.6235G>A (p.Val2079Met)
|
|
|
|
NM_000059.4(BRCA2):c.6237_6238del (p.Leu2080fs)
|
rs1593907958
|
|
|
NM_000059.4(BRCA2):c.6238T>G (p.Leu2080Val)
|
rs876658993
|
|
|
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala)
|
rs1593907983
|
|
|
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)
|
rs2072549980
|
|
|
NM_000059.4(BRCA2):c.6264T>A (p.Thr2088=)
|
rs750651726
|
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
|
NM_000059.4(BRCA2):c.6270_6271del (p.His2090fs)
|
rs80359571
|
|
|
NM_000059.4(BRCA2):c.627C>A (p.Leu209=)
|
rs28897704
|
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
|
NM_000059.4(BRCA2):c.631+8T>C
|
rs1555281111
|
|
|
NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met)
|
rs398122552
|
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
|
NM_000059.4(BRCA2):c.632-1dup
|
rs1566220586
|
|
|
NM_000059.4(BRCA2):c.632-9A>G
|
rs81002855
|
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
|
NM_000059.4(BRCA2):c.6328G>C (p.Asp2110His)
|
rs1593908267
|
|
|
NM_000059.4(BRCA2):c.6329A>C (p.Asp2110Ala)
|
rs80358873
|
|
|
NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs)
|
rs587781470
|
|
|
NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)
|
rs397507369
|
|
|
NM_000059.4(BRCA2):c.6335_6336del (p.Arg2112fs)
|
rs80359574
|
|
|
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs)
|
rs80359576
|
|
|
NM_000059.4(BRCA2):c.6356A>T (p.Asn2119Ile)
|
rs1555284650
|
|
|
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)
|
rs80359575
|
|
|
NM_000059.4(BRCA2):c.6361_6362del (p.Glu2121fs)
|
rs886038144
|
|
|
NM_000059.4(BRCA2):c.6373_6374delinsG (p.Thr2125fs)
|
rs1555284655
|
|
|
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)
|
rs80359577
|
|
|
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs)
|
rs397507849
|
|
|
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)
|
rs886038145
|
|
|
NM_000059.4(BRCA2):c.63A>G (p.Lys21=)
|
rs1280004443
|
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
|
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs)
|
rs397507851
|
|
|
NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys)
|
rs878853597
|
|
|
NM_000059.4(BRCA2):c.6415_6416delinsAT (p.Glu2139Ile)
|
rs1064795067
|
|
|
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs)
|
rs2072554847
|
|
|
NM_000059.4(BRCA2):c.6416A>C (p.Glu2139Ala)
|
rs751071709
|
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
|
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)
|
rs780721021
|
|
|
NM_000059.4(BRCA2):c.6433A>C (p.Asn2145His)
|
rs1555284690
|
|
|
NM_000059.4(BRCA2):c.6434_6441del (p.Asn2145fs)
|
rs397507371
|
|
|
NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs)
|
rs397507855
|
|
|
NM_000059.4(BRCA2):c.6444del (p.Ile2149fs)
|
rs398122557
|
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
|
NM_000059.4(BRCA2):c.6449_6450del (p.Lys2150fs)
|
rs80359594
|
|
|
NM_000059.4(BRCA2):c.6450del (p.Val2151fs)
|
rs80359594
|
|
|
NM_000059.4(BRCA2):c.6454T>A (p.Ser2152Thr)
|
rs1555284705
|
|
|
NM_000059.4(BRCA2):c.6462T>G (p.Tyr2154Ter)
|
rs80358883
|
|
|
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=)
|
rs746099644
|
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu)
|
rs397507859
|
|
|
NM_000059.4(BRCA2):c.6485_6486del (p.Lys2162fs)
|
rs886040659
|
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
|
NM_000059.4(BRCA2):c.6490del (p.Gln2164fs)
|
rs80359599
|
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
|
NM_000059.4(BRCA2):c.6513_6514delinsCG (p.Ser2172Ala)
|
rs1064794089
|
|
|
NM_000059.4(BRCA2):c.6516del (p.Val2174fs)
|
rs2072558268
|
|
|
NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala)
|
rs876659448
|
|
|
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)
|
rs397507865
|
|
|
NM_000059.4(BRCA2):c.6531dup (p.His2178fs)
|
rs886040664
|
|
|
NM_000059.4(BRCA2):c.6534T>C (p.His2178=)
|
rs747048245
|
|
|
NM_000059.4(BRCA2):c.6547_6550del (p.Glu2183fs)
|
rs2072559281
|
|
|
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro)
|
rs746070652
|
|
|
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs)
|
rs80359603
|
|
|
NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter)
|
rs397507867
|
|
|
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu)
|
rs1135401833
|
|
|
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)
|
rs80358888
|
|
|
NM_000059.4(BRCA2):c.6568G>T (p.Val2190Leu)
|
rs80358888
|
|
|
NM_000059.4(BRCA2):c.6570A>C (p.Val2190=)
|
rs1210384297
|
|
|
NM_000059.4(BRCA2):c.6585T>C (p.Gly2195=)
|
rs2137528795
|
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
|
NM_000059.4(BRCA2):c.6603T>C (p.Ser2201=)
|
rs786202576
|
|
|
NM_000059.4(BRCA2):c.6606T>C (p.Asp2202=)
|
rs960827657
|
|
|
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His)
|
rs1555284771
|
|
|
NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly)
|
rs730881546
|
|
|
NM_000059.4(BRCA2):c.6623del (p.Asn2208fs)
|
rs886038150
|
|
|
NM_000059.4(BRCA2):c.6626_6627dup (p.Glu2210Ter)
|
rs80359610
|
|
|
NM_000059.4(BRCA2):c.6627A>G (p.Ile2209Met)
|
rs147275663
|
|
|
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)
|
rs80359609
|
|
|
NM_000059.4(BRCA2):c.6637T>C (p.Ser2213Pro)
|
rs80358890
|
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
|
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)
|
rs1555284779
|
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
|
NM_000059.4(BRCA2):c.6679G>A (p.Ala2227Thr)
|
rs431825345
|
|
|
NM_000059.4(BRCA2):c.6688A>G (p.Ile2230Val)
|
rs587779366
|
|
|
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)
|
rs758379999
|
|
|
NM_000059.4(BRCA2):c.6691_6692delinsTT (p.Ala2231Phe)
|
rs1057517557
|
|
|
NM_000059.4(BRCA2):c.6698C>G (p.Ala2233Gly)
|
rs41293501
|
|
|
NM_000059.4(BRCA2):c.67+16A>G
|
rs529148674
|
|
|
NM_000059.4(BRCA2):c.67+1G>A
|
rs81002796
|
|
|
NM_000059.4(BRCA2):c.67+1G>T
|
rs81002796
|
|
|
NM_000059.4(BRCA2):c.67+2T>C
|
rs81002885
|
|
|
NM_000059.4(BRCA2):c.6711TGA[1] (p.Asp2238del)
|
rs786202738
|
|
|
NM_000059.4(BRCA2):c.6718C>T (p.Leu2240=)
|
rs762191939
|
|
|
NM_000059.4(BRCA2):c.6720G>A (p.Leu2240=)
|
rs1555284823
|
|
|
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)
|
rs397507375
|
|
|
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg)
|
rs80358898
|
|
|
NM_000059.4(BRCA2):c.6744T>A (p.His2248Gln)
|
rs1555284842
|
|
|
NM_000059.4(BRCA2):c.6750A>G (p.Thr2250=)
|
rs864622449
|
|
|
NM_000059.4(BRCA2):c.6757_6758del (p.Leu2253fs)
|
rs80359623
|
|
|
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu)
|
rs1555284847
|
|
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
rs786202915
|
|
|
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs)
|
rs80359624
|
|
|
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)
|
rs80359624
|
|
|
NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)
|
rs80358901
|
|
|
NM_000059.4(BRCA2):c.6787G>A (p.Val2263Ile)
|
rs1566235410
|
|
|
NM_000059.4(BRCA2):c.6792G>C (p.Leu2264Phe)
|
rs756182263
|
|
|
NM_000059.4(BRCA2):c.67G>C (p.Asp23His)
|
rs397507881
|
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.6805A>C (p.Ile2269Leu)
|
rs1300492434
|
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
|
NM_000059.4(BRCA2):c.681+4A>G
|
rs397507884
|
|
|
NM_000059.4(BRCA2):c.681+6T>C
|
rs2072373896
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
|
NM_000059.4(BRCA2):c.682-12_682-11del
|
rs276174879
|
|
|
NM_000059.4(BRCA2):c.682-13A>T
|
rs81002888
|
|
|
NM_000059.4(BRCA2):c.682-15C>T
|
rs864622084
|
|
|
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe)
|
rs786202214
|
|
|
NM_000059.4(BRCA2):c.6831T>C (p.Leu2277=)
|
rs786201481
|
|
|
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)
|
rs80359626
|
|
|
NM_000059.4(BRCA2):c.6834C>T (p.Ile2278=)
|
rs1566235473
|
|
|
NM_000059.4(BRCA2):c.683A>T (p.Asn228Ile)
|
rs398122566
|
|
|
NM_000059.4(BRCA2):c.6841+20T>G
|
rs2137531185
|
|
|
NM_000059.4(BRCA2):c.6841G>A (p.Gly2281Arg)
|
rs1390926046
|
|
|
NM_000059.4(BRCA2):c.6842-14A>T
|
rs81002821
|
|
|
NM_000059.4(BRCA2):c.6842-20T>C
|
rs81002811
|
|
|
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val)
|
rs80358908
|
|
|
NM_000059.4(BRCA2):c.6855C>T (p.Ile2285=)
|
rs1555285142
|
|
|
NM_000059.4(BRCA2):c.6859_6863del (p.Arg2287fs)
|
rs398122568
|
|
|
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs)
|
rs2137536911
|
|
|
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter)
|
rs1555285146
|
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
|
NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr)
|
rs1566236920
|
|
|
NM_000059.4(BRCA2):c.6910T>C (p.Leu2304=)
|
rs1566236971
|
|
|
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)
|
rs1555285156
|
|
|
NM_000059.4(BRCA2):c.6916G>A (p.Ala2306Thr)
|
rs730881550
|
|
|
NM_000059.4(BRCA2):c.6916G>T (p.Ala2306Ser)
|
rs730881550
|
|
|
NM_000059.4(BRCA2):c.6922A>G (p.Lys2308Glu)
|
rs398122570
|
|
|
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
|
|
|
|
NM_000059.4(BRCA2):c.6923A>C (p.Lys2308Thr)
|
rs186810431
|
|
|
NM_000059.4(BRCA2):c.6937+11C>G
|
rs1330187616
|
|
|
NM_000059.4(BRCA2):c.6937+13T>G
|
rs587780868
|
|
|
NM_000059.4(BRCA2):c.6937+17A>T
|
rs1057522185
|
|
|
NM_000059.4(BRCA2):c.6937+8T>C
|
|
|
|
NM_000059.4(BRCA2):c.6938-13A>C
|
rs2072613692
|
|
|
NM_000059.4(BRCA2):c.6938-16_6938-12del
|
rs1566237718
|
|
|
NM_000059.4(BRCA2):c.6938-19T>C
|
rs2137541081
|
|
|
NM_000059.4(BRCA2):c.6938-19_6938-17dup
|
rs765850575
|
|
|
NM_000059.4(BRCA2):c.6938-25_6938-19del
|
rs762815401
|
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
|
NM_000059.4(BRCA2):c.6938-3T>C
|
rs1400188645
|
|
|
NM_000059.4(BRCA2):c.6941C>A (p.Thr2314Lys)
|
rs1177474377
|
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
|
NM_000059.4(BRCA2):c.6952C>A (p.Arg2318=)
|
rs80358920
|
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
|
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr)
|
rs80358922
|
|
|
NM_000059.4(BRCA2):c.6957A>G (p.Arg2319=)
|
rs398122573
|
|
|
NM_000059.4(BRCA2):c.6959T>C (p.Leu2320Ser)
|
rs80358923
|
|
|
NM_000059.4(BRCA2):c.6971A>C (p.His2324Pro)
|
rs398122574
|
|
|
NM_000059.4(BRCA2):c.6976del (p.Ser2326fs)
|
rs886040679
|
|
|
NM_000059.4(BRCA2):c.6986_6990del (p.Pro2329fs)
|
rs1064795172
|
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
|
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs)
|
rs80359631
|
|
|
NM_000059.4(BRCA2):c.6997_6998del (p.Val2333fs)
|
rs1593913331
|
|
|
NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs)
|
rs1566237861
|
|
|
NM_000059.4(BRCA2):c.7007+1G>T
|
rs397507891
|
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
|
NM_000059.4(BRCA2):c.7007+7_7007+8del
|
rs1555285373
|
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7008-20_7008-17del
|
rs276174887
|
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
|
NM_000059.4(BRCA2):c.7008-9C>T
|
rs186220967
|
|
|
NM_000059.4(BRCA2):c.700del (p.Ser234fs)
|
rs80359630
|
|
|
NM_000059.4(BRCA2):c.7022G>T (p.Arg2341Leu)
|
rs786202839
|
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
|
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs)
|
rs80359634
|
|
|
NM_000059.4(BRCA2):c.7030A>G (p.Ile2344Val)
|
rs876658231
|
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
|
|
NM_000059.4(BRCA2):c.704A>G (p.Asn235Ser)
|
rs587780554
|
|
|
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro)
|
rs80358930
|
|
|
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)
|
rs276174888
|
|
|
NM_000059.4(BRCA2):c.705T>G (p.Asn235Lys)
|
rs587781484
|
|
|
NM_000059.4(BRCA2):c.7067T>A (p.Phe2356Tyr)
|
rs587781844
|
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
|
NM_000059.4(BRCA2):c.707del (p.His236fs)
|
rs2072385245
|
|
|
NM_000059.4(BRCA2):c.7081C>T (p.His2361Tyr)
|
rs786203493
|
|
|
NM_000059.4(BRCA2):c.7084T>C (p.Leu2362=)
|
rs2072677643
|
|
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
rs80358939
|
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
|
NM_000059.4(BRCA2):c.7140T>C (p.His2380=)
|
rs1566240860
|
|
|
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)
|
rs777305503
|
|
|
NM_000059.4(BRCA2):c.7142C>A (p.Pro2381Gln)
|
rs746751519
|
|
|
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs)
|
rs878853599
|
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
|
NM_000059.4(BRCA2):c.7166G>A (p.Arg2389Lys)
|
rs1302207132
|
|
|
NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter)
|
|
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
|
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)
|
rs587780871
|
|
|
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)
|
rs1555281459
|
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
|
NM_000059.4(BRCA2):c.7213G>C (p.Val2405Leu)
|
rs1555286046
|
|
|
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)
|
rs876659100
|
|
|
NM_000059.4(BRCA2):c.7222C>A (p.Pro2408Thr)
|
rs398122577
|
|
|
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=)
|
rs276174891
|
|
|
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)
|
rs1555286052
|
|
|
NM_000059.4(BRCA2):c.7235C>T (p.Thr2412Ile)
|
rs397507384
|
|
|
NM_000059.4(BRCA2):c.7237A>G (p.Lys2413Glu)
|
rs1555286056
|
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
|
NM_000059.4(BRCA2):c.7242A>T (p.Ser2414=)
|
rs1799955
|
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
|
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)
|
rs80358953
|
|
|
NM_000059.4(BRCA2):c.7256T>G (p.Val2419Gly)
|
|
|
|
NM_000059.4(BRCA2):c.7257T>C (p.Val2419=)
|
rs1006696389
|
|
|
NM_000059.4(BRCA2):c.7270dup (p.Arg2424fs)
|
rs2072681595
|
|
|
NM_000059.4(BRCA2):c.7274del (p.Asn2425fs)
|
rs1566241084
|
|
|
NM_000059.4(BRCA2):c.7282T>G (p.Leu2428Val)
|
rs1057521856
|
|
|
NM_000059.4(BRCA2):c.7294A>G (p.Arg2432Gly)
|
rs1555286073
|
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
|
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)
|
rs786202441
|
|
|
NM_000059.4(BRCA2):c.730G>T (p.Asp244Tyr)
|
rs80358956
|
|
|
NM_000059.4(BRCA2):c.7317del (p.His2440fs)
|
rs2072682479
|
|
|
NM_000059.4(BRCA2):c.7340A>T (p.Asn2447Ile)
|
rs763490852
|
|
|
NM_000059.4(BRCA2):c.7347T>C (p.Ile2449=)
|
rs1057520563
|
|
|
NM_000059.4(BRCA2):c.7353C>A (p.Asp2451Glu)
|
|
|
|
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)
|
rs398122580
|
|
|
NM_000059.4(BRCA2):c.7362T>G (p.Ile2454Met)
|
rs1555286087
|
|
|
NM_000059.4(BRCA2):c.7363del (p.His2455fs)
|
rs886040702
|
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
|
NM_000059.4(BRCA2):c.7372A>C (p.Asn2458His)
|
rs1278943365
|
|
|
NM_000059.4(BRCA2):c.7403dup (p.Thr2469fs)
|
rs1555286105
|
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
|
NM_000059.4(BRCA2):c.7415A>G (p.Lys2472Arg)
|
rs80358963
|
|
|
NM_000059.4(BRCA2):c.7418G>T (p.Cys2473Phe)
|
rs55924966
|
|
|
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)
|
rs1555286120
|
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
|
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)
|
rs1566241336
|
|
|
NM_000059.4(BRCA2):c.7429C>G (p.Pro2477Ala)
|
|
|
|
NM_000059.4(BRCA2):c.7434A>C (p.Leu2478Phe)
|
rs1593918707
|
|
|
NM_000059.4(BRCA2):c.7435+17del
|
rs1472572621
|
|
|
NM_000059.4(BRCA2):c.7435+18G>A
|
rs878853602
|
|
|
NM_000059.4(BRCA2):c.7436-10T>C
|
rs398122582
|
|
|
NM_000059.4(BRCA2):c.7436-19A>G
|
rs398122583
|
|
|
NM_000059.4(BRCA2):c.7436-1G>T
|
rs886040939
|
|
|
NM_000059.4(BRCA2):c.7436-20A>G
|
rs878853604
|
|
|
NM_000059.4(BRCA2):c.7436-2A>T
|
rs397507917
|
|
|
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)
|
rs886038171
|
|
|
NM_000059.4(BRCA2):c.7491G>A (p.Lys2497=)
|
rs786203092
|
|
|
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)
|
rs80358976
|
|
|
NM_000059.4(BRCA2):c.7505G>C (p.Arg2502Pro)
|
rs56070345
|
|
|
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=)
|
rs140693106
|
|
|
NM_000059.4(BRCA2):c.7516C>T (p.Gln2506Ter)
|
rs876658631
|
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
|
NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg)
|
rs587781513
|
|
|
NM_000059.4(BRCA2):c.7530_7531del (p.Tyr2511fs)
|
rs886040715
|
|
|
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs)
|
rs80359657
|
|
|
NM_000059.4(BRCA2):c.754G>C (p.Asp252His)
|
rs549269828
|
|
|
NM_000059.4(BRCA2):c.7550C>G (p.Thr2517Ser)
|
rs1555286277
|
|
|
NM_000059.4(BRCA2):c.7556dup (p.Arg2520fs)
|
rs80359660
|
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
|
NM_000059.4(BRCA2):c.7567_7568del (p.Leu2523fs)
|
rs80359664
|
|
|
NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)
|
rs1566242125
|
|
|
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)
|
rs1555286291
|
|
|
NM_000059.4(BRCA2):c.7586del (p.Gly2529fs)
|
rs2072699136
|
|
|
NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His)
|
rs967458408
|
|
|
NM_000059.4(BRCA2):c.7597T>A (p.Ser2533Thr)
|
rs786204150
|
|
|
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)
|
rs80358987
|
|
|
NM_000059.4(BRCA2):c.7601C>G (p.Ala2534Gly)
|
rs74047012
|
|
|
NM_000059.4(BRCA2):c.7602G>C (p.Ala2534=)
|
rs81002826
|
|
|
NM_000059.4(BRCA2):c.7603T>C (p.Cys2535Arg)
|
rs1555286309
|
|
|
NM_000059.4(BRCA2):c.7617+18A>G
|
rs2137563834
|
|
|
NM_000059.4(BRCA2):c.7617+1G>C
|
rs397507922
|
|
|
NM_000059.4(BRCA2):c.7617+1G>T
|
rs397507922
|
|
|
NM_000059.4(BRCA2):c.7618-16T>G
|
rs397507924
|
|
|
NM_000059.4(BRCA2):c.7618-18T>C
|
rs560091100
|
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
|
NM_000059.4(BRCA2):c.7618-2A>G
|
rs886040940
|
|
|
NM_000059.4(BRCA2):c.7618-6G>T
|
rs1057520251
|
|
|
NM_000059.4(BRCA2):c.7622A>G (p.Tyr2541Cys)
|
rs1566242642
|
|
|
NM_000059.4(BRCA2):c.7622_7629dup (p.Gly2544fs)
|
rs2137566082
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs)
|
rs80359672
|
|
|
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs)
|
rs80359673
|
|
|
NM_000059.4(BRCA2):c.7682A>T (p.Gln2561Leu)
|
rs55647716
|
|
|
NM_000059.4(BRCA2):c.7686T>G (p.Phe2562Leu)
|
rs2137566775
|
|
|
NM_000059.4(BRCA2):c.7696G>T (p.Asp2566Tyr)
|
rs80358996
|
|
|
NM_000059.4(BRCA2):c.7708A>T (p.Lys2570Ter)
|
rs876659346
|
|
|
NM_000059.4(BRCA2):c.7713A>G (p.Glu2571=)
|
|
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
|
NM_000059.4(BRCA2):c.7719A>G (p.Leu2573=)
|
|
|
|
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs)
|
rs80359676
|
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
|
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter)
|
rs80358997
|
|
|
NM_000059.4(BRCA2):c.7723A>G (p.Thr2575Ala)
|
rs1064793308
|
|
|
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter)
|
rs80358999
|
|
|
NM_000059.4(BRCA2):c.7745_7751dup (p.Gly2584_Gly2585insTer)
|
rs1593920945
|
|
|
NM_000059.4(BRCA2):c.7749T>C (p.Asp2583=)
|
rs786201284
|
|
|
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp)
|
rs80359001
|
|
|
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)
|
rs80359004
|
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
|
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)
|
rs80359679
|
|
|
NM_000059.4(BRCA2):c.7764A>T (p.Ile2588=)
|
rs80359798
|
|
|
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)
|
rs2072711060
|
|
|
NM_000059.4(BRCA2):c.776G>A (p.Arg259Lys)
|
rs1566221533
|
|
|
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser)
|
rs80359006
|
|
|
NM_000059.4(BRCA2):c.7773T>C (p.Asn2591=)
|
rs1566242894
|
|
|
NM_000059.4(BRCA2):c.7783G>T (p.Ala2595Ser)
|
rs80359007
|
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
|
NM_000059.4(BRCA2):c.7803T>C (p.Tyr2601=)
|
rs1566242928
|
|
|
NM_000059.4(BRCA2):c.7806-10A>T
|
rs1555286809
|
|
|
NM_000059.4(BRCA2):c.7806-11del
|
rs755777054
|
|
|
NM_000059.4(BRCA2):c.7806-1G>T
|
rs81002860
|
|
|
NM_000059.4(BRCA2):c.7828G>A (p.Val2610Met)
|
rs587780661
|
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
|
NM_000059.4(BRCA2):c.7865dup (p.Asn2622fs)
|
rs886040732
|
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7872T>C (p.Tyr2624=)
|
rs863224468
|
|
|
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)
|
rs863224468
|
|
|
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)
|
rs864622552
|
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
|
NM_000059.4(BRCA2):c.7880T>G (p.Ile2627Ser)
|
rs876658736
|
|
|
NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met)
|
rs876660528
|
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
|
NM_000059.4(BRCA2):c.7919A>G (p.Lys2640Arg)
|
rs397507394
|
|
|
NM_000059.4(BRCA2):c.7928C>T (p.Ala2643Val)
|
rs80359018
|
|
|
NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly)
|
rs876658889
|
|
|
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)
|
rs2137577594
|
|
|
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)
|
rs80359688
|
|
|
NM_000059.4(BRCA2):c.7938C>T (p.Cys2646=)
|
rs1064794927
|
|
|
NM_000059.4(BRCA2):c.7939C>G (p.Leu2647Val)
|
rs778391123
|
|
|
NM_000059.4(BRCA2):c.7939C>T (p.Leu2647=)
|
rs778391123
|
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
|
NM_000059.4(BRCA2):c.7969A>T (p.Lys2657Ter)
|
|
|
|
NM_000059.4(BRCA2):c.7976+18C>T
|
rs1057521490
|
|
|
NM_000059.4(BRCA2):c.7976+2C>G
|
rs886040943
|
|
|
NM_000059.4(BRCA2):c.7976+5G>A
|
rs786201180
|
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
|
NM_000059.4(BRCA2):c.7976G>T (p.Arg2659Ile)
|
|
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
|
NM_000059.4(BRCA2):c.7977-20A>T
|
rs1555286924
|
|
|
NM_000059.4(BRCA2):c.7977-4_7977-3del
|
rs876659992
|
|
|
NM_000059.4(BRCA2):c.7980T>C (p.Tyr2660=)
|
rs397507949
|
|
|
NM_000059.4(BRCA2):c.7984A>G (p.Thr2662Ala)
|
rs1566245207
|
|
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
|
NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr)
|
rs921017191
|
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
|
NM_000059.4(BRCA2):c.8021del (p.Lys2674fs)
|
rs397507952
|
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
rs28897746
|
|
|
NM_000059.4(BRCA2):c.8064C>T (p.Leu2688=)
|
rs1057521686
|
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
|
NM_000059.4(BRCA2):c.807A>G (p.Thr269=)
|
rs142072914
|
|
|
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu)
|
rs80359048
|
|
|
NM_000059.4(BRCA2):c.8091C>A (p.Ser2697Arg)
|
rs140782158
|
|
|
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs)
|
rs2137580749
|
|
|
NM_000059.4(BRCA2):c.809del (p.Thr269_Ser270insTer)
|
|
|
|
NM_000059.4(BRCA2):c.8100A>G (p.Ile2700Met)
|
rs1555286995
|
|
|
NM_000059.4(BRCA2):c.8114G>A (p.Ser2705Asn)
|
rs778806241
|
|
|
NM_000059.4(BRCA2):c.8116A>G (p.Asn2706Asp)
|
rs1196515495
|
|
|
NM_000059.4(BRCA2):c.8124T>C (p.Thr2708=)
|
|
|
|
NM_000059.4(BRCA2):c.812G>A (p.Gly271Glu)
|
rs1247032180
|
|
|
NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg)
|
rs80359059
|
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
|
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter)
|
rs730881581
|
|
|
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)
|
rs730881615
|
|
|
NM_000059.4(BRCA2):c.8193G>A (p.Gln2731=)
|
rs1555287034
|
|
|
NM_000059.4(BRCA2):c.8205C>G (p.Pro2735=)
|
rs967189548
|
|
|
NM_000059.4(BRCA2):c.8205_8206del (p.Leu2737fs)
|
rs397507396
|
|
|
NM_000059.4(BRCA2):c.8215G>T (p.Val2739Phe)
|
rs80359069
|
|
|
NM_000059.4(BRCA2):c.8225A>G (p.Asn2742Ser)
|
rs587782763
|
|
|
NM_000059.4(BRCA2):c.8229C>G (p.Gly2743=)
|
rs1555287054
|
|
|
NM_000059.4(BRCA2):c.8233C>T (p.Leu2745=)
|
|
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
|
NM_000059.4(BRCA2):c.8246AGA[1] (p.Lys2750del)
|
rs80359703
|
|
|
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)
|
rs80359701
|
|
|
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser)
|
rs1555287065
|
|
|
NM_000059.4(BRCA2):c.8283_8284del (p.Ser2761_Pro2762insTer)
|
|
|
|
NM_000059.4(BRCA2):c.8290G>A (p.Ala2764Thr)
|
rs786202189
|
|
|
NM_000059.4(BRCA2):c.8291C>T (p.Ala2764Val)
|
rs1555287074
|
|
|
NM_000059.4(BRCA2):c.8299C>T (p.Pro2767Ser)
|
rs587782619
|
|
|
NM_000059.4(BRCA2):c.8301T>C (p.Pro2767=)
|
rs1555287078
|
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.832A>G (p.Ser278Gly)
|
rs2137465127
|
|
|
NM_000059.4(BRCA2):c.8331+16C>T
|
rs730881595
|
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
|
NM_000059.4(BRCA2):c.8332-1G>T
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8332-2dup
|
rs2137596307
|
|
|
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs)
|
rs80359707
|
|
|
NM_000059.4(BRCA2):c.8352G>A (p.Arg2784=)
|
rs747664806
|
|
|
NM_000059.4(BRCA2):c.8353C>G (p.Pro2785Ala)
|
rs786202287
|
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
|
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter)
|
rs397507981
|
|
|
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)
|
rs398122603
|
|
|
NM_000059.4(BRCA2):c.8368A>G (p.Thr2790Ala)
|
rs80359081
|
|
|
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser)
|
rs80359081
|
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
|
NM_000059.4(BRCA2):c.8379A>G (p.Gly2793=)
|
rs1131692126
|
|
|
NM_000059.4(BRCA2):c.837C>T (p.Cys279=)
|
rs587781421
|
|
|
NM_000059.4(BRCA2):c.8380T>A (p.Phe2794Ile)
|
rs1566248770
|
|
|
NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu)
|
rs80359085
|
|
|
NM_000059.4(BRCA2):c.8393C>G (p.Pro2798Arg)
|
rs276174906
|
|
|
NM_000059.4(BRCA2):c.8409G>T (p.Leu2803=)
|
rs2137597275
|
|
|
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)
|
rs397507402
|
|
|
NM_000059.4(BRCA2):c.8418A>G (p.Ser2806=)
|
rs1555287636
|
|
|
NM_000059.4(BRCA2):c.8419T>C (p.Ser2807Pro)
|
rs1555287637
|
|
|
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)
|
rs80359094
|
|
|
NM_000059.4(BRCA2):c.8455G>A (p.Asp2819Asn)
|
rs1479448614
|
|
|
NM_000059.4(BRCA2):c.8462T>C (p.Ile2821Thr)
|
rs80359096
|
|
|
NM_000059.4(BRCA2):c.8468A>G (p.Gln2823Arg)
|
rs876660101
|
|
|
NM_000059.4(BRCA2):c.846_847del (p.Ile283fs)
|
rs886040776
|
|
|
NM_000059.4(BRCA2):c.8474C>T (p.Ala2825Val)
|
rs2072823455
|
|
|
NM_000059.4(BRCA2):c.8485C>A (p.Gln2829Lys)
|
rs80359099
|
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
|
NM_000059.4(BRCA2):c.8487+14T>A
|
rs767591414
|
|
|
NM_000059.4(BRCA2):c.8487+1G>A
|
rs81002798
|
|
|
NM_000059.4(BRCA2):c.8487+4T>C
|
rs81002801
|
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8488-5T>C
|
rs533806629
|
|
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
rs80359101
|
|
|
NM_000059.4(BRCA2):c.8501C>G (p.Thr2834Arg)
|
rs1555287733
|
|
|
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)
|
rs80359712
|
|
|
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter)
|
rs80359102
|
|
|
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu)
|
rs80359105
|
|
|
NM_000059.4(BRCA2):c.8531A>C (p.Glu2844Ala)
|
rs900871740
|
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
|
NM_000059.4(BRCA2):c.8541A>C (p.Glu2847Asp)
|
rs1555287759
|
|
|
NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)
|
rs80359110
|
|
|
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)
|
rs397507406
|
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
|
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)
|
rs398122608
|
|
|
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs)
|
rs80359720
|
|
|
NM_000059.4(BRCA2):c.8588_8590dup (p.Glu2863dup)
|
rs730881616
|
|
|
NM_000059.4(BRCA2):c.8589dup (p.Ala2864fs)
|
rs1566249353
|
|
|
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs)
|
rs80359721
|
|
|
NM_000059.4(BRCA2):c.860T>C (p.Met287Thr)
|
rs2072398884
|
|
|
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter)
|
rs587782860
|
|
|
NM_000059.4(BRCA2):c.8612A>C (p.Glu2871Ala)
|
rs1566249398
|
|
|
NM_000059.4(BRCA2):c.8632+12_8632+18delinsATATA
|
rs1555287796
|
|
|
NM_000059.4(BRCA2):c.8632+13A>G
|
rs1566249453
|
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
|
NM_000059.4(BRCA2):c.8632G>C (p.Glu2878Gln)
|
rs398122710
|
|
|
NM_000059.4(BRCA2):c.8633-11_8633-3del
|
rs2072873847
|
|
|
NM_000059.4(BRCA2):c.8633-17T>C
|
rs1566251324
|
|
|
NM_000059.4(BRCA2):c.8633-19_8633-17del
|
rs770871854
|
|
|
NM_000059.4(BRCA2):c.8633-3T>A
|
rs1283205861
|
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
|
NM_000059.4(BRCA2):c.8639C>G (p.Thr2880Arg)
|
rs1555288123
|
|
|
NM_000059.4(BRCA2):c.8649A>G (p.Pro2883=)
|
rs786202069
|
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
|
NM_000059.4(BRCA2):c.8668C>T (p.Leu2890=)
|
rs80359127
|
|
|
NM_000059.4(BRCA2):c.866del (p.Asn289fs)
|
rs2072398949
|
|
|
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)
|
rs80359724
|
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
|
NM_000059.4(BRCA2):c.8678A>G (p.Gln2893Arg)
|
rs1555288153
|
|
|
NM_000059.4(BRCA2):c.8678A>T (p.Gln2893Leu)
|
|
|
|
NM_000059.4(BRCA2):c.8679G>A (p.Gln2893=)
|
rs1566251407
|
|
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
rs397508002
|
|
|
NM_000059.4(BRCA2):c.8690C>G (p.Ala2897Gly)
|
rs1555288157
|
|
|
NM_000059.4(BRCA2):c.8692T>G (p.Leu2898Val)
|
rs1555288160
|
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
|
NM_000059.4(BRCA2):c.8697A>G (p.Gln2899=)
|
rs786203707
|
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
|
NM_000059.4(BRCA2):c.8704G>A (p.Ala2902Thr)
|
rs1555288163
|
|
|
NM_000059.4(BRCA2):c.8718A>G (p.Glu2906=)
|
rs864622287
|
|
|
NM_000059.4(BRCA2):c.8721A>G (p.Ala2907=)
|
rs2137613242
|
|
|
NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val)
|
rs80359130
|
|
|
NM_000059.4(BRCA2):c.8735C>T (p.Ala2912Val)
|
rs2072876151
|
|
|
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val)
|
rs1310128359
|
|
|
NM_000059.4(BRCA2):c.8754+18C>T
|
rs768949172
|
|
|
NM_000059.4(BRCA2):c.8754+1G>A
|
rs397508006
|
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
rs80359803
|
|
|
NM_000059.4(BRCA2):c.8755-18T>C
|
rs765765094
|
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
|
NM_000059.4(BRCA2):c.8767G>A (p.Glu2923Lys)
|
rs1334458965
|
|
|
NM_000059.4(BRCA2):c.8771A>G (p.Glu2924Gly)
|
rs876658844
|
|
|
NM_000059.4(BRCA2):c.8774A>G (p.Gln2925Arg)
|
rs80359135
|
|
|
NM_000059.4(BRCA2):c.8777T>A (p.Leu2926Ter)
|
rs886040791
|
|
|
NM_000059.4(BRCA2):c.8800C>A (p.Gln2934Lys)
|
rs2137619340
|
|
|
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)
|
rs80359138
|
|
|
NM_000059.4(BRCA2):c.880G>A (p.Glu294Lys)
|
rs397508009
|
|
|
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp)
|
rs373227180
|
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
|
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)
|
rs431825371
|
|
|
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=)
|
rs28897754
|
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
|
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)
|
rs1555288386
|
|
|
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)
|
rs276174913
|
|
|
NM_000059.4(BRCA2):c.8877A>G (p.Glu2959=)
|
rs751396548
|
|
|
NM_000059.4(BRCA2):c.8878C>A (p.Gln2960Lys)
|
rs80359140
|
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
|
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)
|
rs878853614
|
|
|
NM_000059.4(BRCA2):c.8891G>C (p.Arg2964Thr)
|
rs1555288392
|
|
|
NM_000059.4(BRCA2):c.8898C>T (p.Val2966=)
|
rs1566252734
|
|
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
rs879255298
|
|
|
NM_000059.4(BRCA2):c.88A>G (p.Asn30Asp)
|
rs1253463092
|
|
|
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs)
|
rs1593936840
|
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
|
NM_000059.4(BRCA2):c.8905G>T (p.Val2969Leu)
|
rs59004709
|
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)
|
rs276174914
|
|
|
NM_000059.4(BRCA2):c.8923G>A (p.Val2975Ile)
|
rs1006688520
|
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
|
NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg)
|
rs771267741
|
|
|
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)
|
rs869320799
|
|
|
NM_000059.4(BRCA2):c.8940dup (p.Glu2981fs)
|
rs80359732
|
|
|
NM_000059.4(BRCA2):c.8948_8953+5del
|
rs276174915
|
|
|
NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter)
|
rs80359146
|
|
|
NM_000059.4(BRCA2):c.8952A>G (p.Ser2984=)
|
rs876660709
|
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
|
NM_000059.4(BRCA2):c.8953+5G>C
|
rs397508023
|
|
|
NM_000059.4(BRCA2):c.8953+8T>A
|
rs1566252871
|
|
|
NM_000059.4(BRCA2):c.8954-13T>C
|
rs398122717
|
|
|
NM_000059.4(BRCA2):c.8954-1_8955delinsAA
|
rs276174916
|
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
|
NM_000059.4(BRCA2):c.8955T>C (p.Val2985=)
|
rs2072907140
|
|
|
NM_000059.4(BRCA2):c.8957T>C (p.Ile2986Thr)
|
rs431825372
|
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
|
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)
|
rs80359148
|
|
|
NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter)
|
rs80359149
|
|
|
NM_000059.4(BRCA2):c.8975_8976insTGATTT (p.Pro2992_Ser2993insAspLeu)
|
rs1566253060
|
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
|
NM_000059.4(BRCA2):c.8976A>G (p.Pro2992=)
|
rs2072907793
|
|
|
NM_000059.4(BRCA2):c.898_899delinsCTTC (p.Val300fs)
|
|
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
|
NM_000059.4(BRCA2):c.9016_9017del (p.Tyr3006fs)
|
rs80359739
|
|
|
NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter)
|
rs80359154
|
|
|
NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn)
|
rs1555281626
|
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
|
NM_000059.4(BRCA2):c.9027del (p.His3010fs)
|
rs80359742
|
|
|
NM_000059.4(BRCA2):c.9032T>G (p.Leu3011Arg)
|
rs80359155
|
|
|
NM_000059.4(BRCA2):c.9035C>G (p.Ala3012Gly)
|
rs768335521
|
|
|
NM_000059.4(BRCA2):c.9037A>G (p.Thr3013Ala)
|
rs1555288470
|
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
|
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)
|
rs587781497
|
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
|
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)
|
rs1555288473
|
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
|
NM_000059.4(BRCA2):c.9061G>A (p.Glu3021Lys)
|
rs1182648647
|
|
|
NM_000059.4(BRCA2):c.9063A>G (p.Glu3021=)
|
rs786201198
|
|
|
NM_000059.4(BRCA2):c.9073A>G (p.Ile3025Val)
|
rs879255470
|
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
|
NM_000059.4(BRCA2):c.9089C>G (p.Thr3030Arg)
|
rs587781792
|
|
|
NM_000059.4(BRCA2):c.9093A>G (p.Lys3031=)
|
rs1555288495
|
|
|
NM_000059.4(BRCA2):c.9093_9094delinsG (p.Thr3033fs)
|
rs876660532
|
|
|
NM_000059.4(BRCA2):c.9094A>G (p.Lys3032Glu)
|
rs1555288501
|
|
|
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9097A>C (p.Thr3033Pro)
|
rs766308212
|
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9099T>C (p.Thr3033=)
|
rs876658635
|
|
|
NM_000059.4(BRCA2):c.9102G>A (p.Gln3034=)
|
rs1336395181
|
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter)
|
rs397508037
|
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
|
NM_000059.4(BRCA2):c.9117+12T>A
|
rs1212956665
|
|
|
NM_000059.4(BRCA2):c.9117+16T>G
|
rs780689895
|
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
|
NM_000059.4(BRCA2):c.9117+9C>T
|
rs81002869
|
|
|
NM_000059.4(BRCA2):c.9117G>C (p.Pro3039=)
|
rs28897756
|
|
|
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=)
|
rs28897756
|
|
|
NM_000059.4(BRCA2):c.9118-14T>C
|
rs81002815
|
|
|
NM_000059.4(BRCA2):c.9118-6C>T
|
rs81002890
|
|
|
NM_000059.4(BRCA2):c.9129A>G (p.Glu3043=)
|
rs28897757
|
|
|
NM_000059.4(BRCA2):c.9152C>A (p.Pro3051Gln)
|
rs1555288537
|
|
|
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)
|
rs786204070
|
|
|
NM_000059.4(BRCA2):c.9161C>T (p.Pro3054Leu)
|
rs80359172
|
|
|
NM_000059.4(BRCA2):c.9162C>G (p.Pro3054=)
|
rs778426874
|
|
|
NM_000059.4(BRCA2):c.9162C>T (p.Pro3054=)
|
rs778426874
|
|
|
NM_000059.4(BRCA2):c.9168C>T (p.His3056=)
|
rs876661266
|
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
|
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)
|
rs201561974
|
|
|
NM_000059.4(BRCA2):c.9190G>T (p.Asp3064Tyr)
|
rs80359177
|
|
|
NM_000059.4(BRCA2):c.9191del (p.Asp3064fs)
|
rs2137625213
|
|
|
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)
|
rs876659047
|
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
|
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly)
|
rs80359182
|
|
|
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)
|
rs1555288557
|
|
|
NM_000059.4(BRCA2):c.9215T>A (p.Val3072Glu)
|
rs80359185
|
|
|
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs)
|
rs397508040
|
|
|
NM_000059.4(BRCA2):c.9232G>T (p.Val3078Phe)
|
rs1593938201
|
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
|
NM_000059.4(BRCA2):c.9253del (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)
|
rs1555288587
|
|
|
NM_000059.4(BRCA2):c.9256+8A>G
|
rs1312250808
|
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
|
NM_000059.4(BRCA2):c.9257-10del
|
rs276174919
|
|
|
NM_000059.4(BRCA2):c.9257-10dup
|
rs276174919
|
|
|
NM_000059.4(BRCA2):c.9257-12T>C
|
rs2137651662
|
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
|
NM_000059.4(BRCA2):c.9257-8C>T
|
rs11571819
|
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
|
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly)
|
rs1060502443
|
|
|
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)
|
rs80359198
|
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
|
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)
|
rs28897758
|
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
|
NM_000059.4(BRCA2):c.9347C>G (p.Pro3116Arg)
|
rs1220080934
|
|
|
NM_000059.4(BRCA2):c.9350A>G (p.His3117Arg)
|
rs80359206
|
|
|
NM_000059.4(BRCA2):c.9352A>C (p.Met3118Leu)
|
rs1566258951
|
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
|
NM_000059.4(BRCA2):c.9365C>T (p.Ala3122Val)
|
rs571971903
|
|
|
NM_000059.4(BRCA2):c.9371A>G (p.Asn3124Ser)
|
rs28897759
|
|
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
rs80359211
|
|
|
NM_000059.4(BRCA2):c.939T>C (p.Ser313=)
|
rs1593891536
|
|
|
NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter)
|
rs80359214
|
|
|
NM_000059.4(BRCA2):c.9409A>T (p.Thr3137Ser)
|
rs746036918
|
|
|
NM_000059.4(BRCA2):c.9414A>G (p.Leu3138=)
|
rs80359807
|
|
|
NM_000059.4(BRCA2):c.9422del (p.Gly3141fs)
|
|
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
|
NM_000059.4(BRCA2):c.9447T>C (p.Ser3149=)
|
rs1593199946
|
|
|
NM_000059.4(BRCA2):c.9458del (p.Gly3153fs)
|
rs397508052
|
|
|
NM_000059.4(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter)
|
rs1555289602
|
|
|
NM_000059.4(BRCA2):c.9468A>G (p.Gln3156=)
|
rs753503094
|
|
|
NM_000059.4(BRCA2):c.9498del (p.Glu3167fs)
|
rs397508055
|
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
|
NM_000059.4(BRCA2):c.9502-12T>C
|
rs81002803
|
|
|
NM_000059.4(BRCA2):c.9507del (p.Ile3169fs)
|
rs80359767
|
|
|
NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs)
|
rs80359769
|
|
|
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)
|
rs397507430
|
|
|
NM_000059.4(BRCA2):c.9540T>G (p.Leu3180=)
|
rs1131692141
|
|
|
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)
|
rs80359225
|
|
|
NM_000059.4(BRCA2):c.9544C>T (p.His3182Tyr)
|
rs2073040551
|
|
|
NM_000059.4(BRCA2):c.9555T>G (p.His3185Gln)
|
rs1593200915
|
|
|
NM_000059.4(BRCA2):c.9567C>G (p.Pro3189=)
|
rs786202006
|
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
|
NM_000059.4(BRCA2):c.9577A>G (p.Thr3193Ala)
|
rs2073041117
|
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
|
NM_000059.4(BRCA2):c.958del (p.Leu320fs)
|
|
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
|
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu)
|
rs397507432
|
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
|
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=)
|
rs755890067
|
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
|
NM_000059.4(BRCA2):c.9617A>C (p.Gln3206Pro)
|
rs397507433
|
|
|
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)
|
rs80359234
|
|
|
NM_000059.4(BRCA2):c.9625C>A (p.Pro3209Thr)
|
|
|
|
NM_000059.4(BRCA2):c.9634G>A (p.Gly3212Arg)
|
rs55775473
|
|
|
NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp)
|
rs80359235
|
|
|
NM_000059.4(BRCA2):c.9649-16T>G
|
rs2137662424
|
|
|
NM_000059.4(BRCA2):c.9649-17T>C
|
rs1566260726
|
|
|
NM_000059.4(BRCA2):c.9649-6del
|
rs276174929
|
|
|
NM_000059.4(BRCA2):c.9649-6dup
|
rs276174929
|
|
|
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile)
|
rs431825379
|
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
|
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile)
|
rs1566222487
|
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
|
NM_000059.4(BRCA2):c.9700A>G (p.Met3234Val)
|
rs730881574
|
|
|
NM_000059.4(BRCA2):c.9710G>A (p.Arg3237Lys)
|
rs730881575
|
|
|
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)
|
rs397507435
|
|
|
NM_000059.4(BRCA2):c.9730G>T (p.Val3244Phe)
|
rs11571831
|
|
|
NM_000059.4(BRCA2):c.9738C>A (p.Ala3246=)
|
rs80359811
|
|
|
NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr)
|
rs1173590589
|
|
|
NM_000059.4(BRCA2):c.9750A>C (p.Ser3250=)
|
rs377730276
|
|
|
NM_000059.4(BRCA2):c.9765G>T (p.Gly3255=)
|
rs1555289951
|
|
|
NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs)
|
rs1555289953
|
|
|
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)
|
rs1566260997
|
|
|
NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs)
|
rs587781772
|
|
|
NM_000059.4(BRCA2):c.9771A>G (p.Lys3257=)
|
rs1363146360
|
|
|
NM_000059.4(BRCA2):c.977G>A (p.Ser326Asn)
|
rs587782691
|
|
|
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)
|
rs886040851
|
|
|
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)
|
rs28897706
|
|
|
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)
|
rs398122622
|
|
|
NM_000059.4(BRCA2):c.9839C>G (p.Pro3280Arg)
|
rs80359246
|
|
|
NM_000059.4(BRCA2):c.9865T>C (p.Phe3289Leu)
|
rs1555289980
|
|
|
NM_000059.4(BRCA2):c.9871del (p.Ser3291fs)
|
rs886040854
|
|
|
NM_000059.4(BRCA2):c.9874C>G (p.Pro3292Ala)
|
rs876660917
|
|
|
NM_000059.4(BRCA2):c.9898C>T (p.Pro3300Ser)
|
rs770868371
|
|
|
NM_000059.4(BRCA2):c.9901C>T (p.Pro3301Ser)
|
rs1566261153
|
|
|
NM_000059.4(BRCA2):c.9906_9907delinsTT (p.Arg3302_Ser3303delinsSerCys)
|
rs876659538
|
|
|
NM_000059.4(BRCA2):c.990A>G (p.Lys330=)
|
rs1555281676
|
|
|
NM_000059.4(BRCA2):c.9912T>C (p.Cys3304=)
|
rs2073052705
|
|
|
NM_000059.4(BRCA2):c.9913G>A (p.Gly3305Ser)
|
rs587782859
|
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
|
NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met)
|
rs80359255
|
|
|
NM_000059.4(BRCA2):c.9944_9948del (p.Lys3315fs)
|
rs2137665218
|
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
|
NM_000059.4(BRCA2):c.9956C>A (p.Ser3319Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.9971C>T (p.Pro3324Leu)
|
rs1593202112
|
|
|
NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn)
|
rs587782098
|
|
|
NM_000059.4(BRCA2):c.9989A>T (p.Glu3330Val)
|
rs2137665575
|
|
|
NM_000059.4(BRCA2):c.9997_9998del (p.Leu3333fs)
|
rs730881621
|
|
|
NM_000060.2(BTD):c.[1207T>G;1330G>C]
|
|
|
|
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)
|
rs1569292021
|
|
|
NM_000061.3(BTK):c.141+5G>C
|
rs1927165677
|
|
|
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)
|
rs1057519825
|
|
|
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)
|
rs193922124
|
|
|
NM_000061.3(BTK):c.1511A>T (p.Asp504Val)
|
rs193922125
|
|
|
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)
|
rs128621202
|
|
|
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)
|
rs128620183
|
|
|
NM_000061.3(BTK):c.164C>A (p.Ser55Ter)
|
rs1555980796
|
|
|
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs)
|
rs193922126
|
|
|
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)
|
rs1926380106
|
|
|
NM_000061.3(BTK):c.1716dup (p.Lys573fs)
|
rs2147424879
|
|
|
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)
|
rs1603019594
|
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
|
NM_000061.3(BTK):c.1852A>G (p.Arg618Gly)
|
rs1569290824
|
|
|
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)
|
rs128621210
|
|
|
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
|
|
|
|
NM_000061.3(BTK):c.215dup (p.Asn72fs)
|
rs886041148
|
|
|
NM_000061.3(BTK):c.233del (p.Gln78fs)
|
rs2147447513
|
|
|
NM_000061.3(BTK):c.240G>A (p.Pro80=)
|
rs1569296295
|
|
|
NM_000061.3(BTK):c.280del (p.Ile94fs)
|
|
|
|
NM_000061.3(BTK):c.294C>A (p.Phe98Leu)
|
rs1927036921
|
|
|
NM_000061.3(BTK):c.310-8C>A
|
rs150930053
|
|
|
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)
|
rs1555980049
|
|
|
NM_000061.3(BTK):c.37C>T (p.Arg13Ter)
|
rs128620187
|
|
|
NM_000061.3(BTK):c.391+143dup
|
rs193922127
|
|
|
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)
|
rs128620188
|
|
|
NM_000061.3(BTK):c.472_475del (p.Thr158fs)
|
rs193922128
|
|
|
NM_000061.3(BTK):c.588+1G>T
|
rs1569293252
|
|
|
NM_000061.3(BTK):c.588+2T>A
|
rs1555978777
|
|
|
NM_000061.3(BTK):c.655del (p.Val219fs)
|
rs1569292810
|
|
|
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)
|
rs128621192
|
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
|
NM_000061.3(BTK):c.777-2A>G
|
rs193922129
|
|
|
NM_000061.3(BTK):c.777-3C>G
|
rs193922130
|
|
|
NM_000061.3(BTK):c.799_806del (p.Asn267fs)
|
rs1555978412
|
|
|
NM_000061.3(BTK):c.806del (p.Val269fs)
|
rs1926614700
|
|
|
NM_000061.3(BTK):c.840-1G>A
|
rs193922131
|
|
|
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)
|
rs1555978277
|
|
|
NM_000061.3(BTK):c.895-2A>G
|
rs193922132
|
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
|
NM_000064.4(C3):c.1769G>C (p.Gly590Ala)
|
|
|
|
NM_000064.4(C3):c.1774C>T (p.Arg592Trp)
|
|
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
|
NM_000064.4(C3):c.2246-18_2246-17delinsTT
|
|
|
|
NM_000064.4(C3):c.4030-2A>G
|
|
|
|
NM_000064.4(C3):c.555G>C (p.Gln185His)
|
|
|
|
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)
|
|
|
|
NM_000069.3(CACNA1S):c.1694T>A (p.Leu565Gln)
|
rs2102142533
|
|
|
NM_000069.3(CACNA1S):c.185T>C (p.Phe62Ser)
|
|
|
|
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
|
|
|
|
NM_000069.3(CACNA1S):c.2491-17C>A
|
|
|
|
NM_000069.3(CACNA1S):c.2658-14T>C
|
|
|
|
NM_000069.3(CACNA1S):c.3256-13G>T
|
|
|
|
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu)
|
rs142102094
|
|
|
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His)
|
rs749588662
|
|
|
NM_000069.3(CACNA1S):c.3609+1G>A
|
|
|
|
NM_000069.3(CACNA1S):c.4786G>T (p.Gly1596Ter)
|
rs751048080
|
|
|
NM_000069.3(CACNA1S):c.4931T>A (p.Leu1644Ter)
|
|
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
|
NM_000070.3(CAPN3):c.1191C>G (p.Phe397Leu)
|
|
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
|
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser)
|
rs886042857
|
|
|
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu)
|
rs863224956
|
|
|
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)
|
rs746075428
|
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
|
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
|
|
|
|
NM_000070.3(CAPN3):c.2184+21G>A
|
|
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
|
NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)
|
|
|
|
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)
|
|
|
|
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)
|
rs946415346
|
|
|
NM_000070.3(CAPN3):c.535G>A (p.Asp179Asn)
|
|
|
|
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln)
|
rs2141164715
|
|
|
NM_000070.3(CAPN3):c.575C>G (p.Thr192Ser)
|
|
|
|
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)
|
rs768447053
|
|
|
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
|
|
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
|
NM_000071.2(CBS):c.843_844ins68 (p.?)
|
|
|
|
NM_000071.3(CBS):c.1039+1G>T
|
rs2146362992
|
|
|
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
|
|
|
|
NM_000071.3(CBS):c.1096G>A (p.Glu366Lys)
|
|
|
|
NM_000071.3(CBS):c.1221del (p.Trp408fs)
|
rs1361324844
|
|
|
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
|
|
|
|
NM_000071.3(CBS):c.1358+15C>A
|
rs186497436
|
|
|
NM_000071.3(CBS):c.1468-14C>T
|
|
|
|
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
|
|
|
|
NM_000071.3(CBS):c.1566del (p.Lys523fs)
|
rs786204466
|
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
|
NM_000071.3(CBS):c.241C>G (p.Leu81Val)
|
|
|
|
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)
|
rs786204757
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
|
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)
|
rs760214620
|
|
|
NM_000071.3(CBS):c.371_374dup (p.Met126fs)
|
rs755625628
|
|
|
NM_000071.3(CBS):c.423G>C (p.Thr141=)
|
rs773579814
|
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
|
NM_000071.3(CBS):c.491G>A (p.Arg164His)
|
|
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
|
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)
|
rs762065361
|
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
|
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)
|
rs1464223176
|
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
|
NM_000071.3(CBS):c.829_830insACACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGA
|
|
|
|
NM_000071.3(CBS):c.844C>T (p.Pro282Ser)
|
rs1057518515
|
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
|
NM_000071.3(CBS):c.862G>C (p.Ala288Pro)
|
rs141502207
|
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
|
NM_000071.3(CBS):c.954+1G>A
|
rs1057517373
|
|
|
NM_000071.3(CBS):c.955-2A>G
|
|
|
|
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)
|
rs777919630
|
|
|
NM_000071.3(CBS):c.[233C>G;306G>C]
|
|
|
|
NM_000073.3(CD3G):c.213del (p.Lys71fs)
|
rs570768621
|
|
|
NM_000073.3(CD3G):c.213dup (p.Trp72fs)
|
rs570768621
|
|
|
NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe)
|
rs1591284990
|
|
|
NM_000073.3(CD3G):c.431A>G (p.Gln144Arg)
|
rs2134070842
|
|
|
NM_000073.3(CD3G):c.484-1G>A
|
|
|
|
NM_000074.3(CD40LG):c.189del (p.Phe63fs)
|
rs193922134
|
|
|
NM_000074.3(CD40LG):c.288+1G>A
|
rs1569376229
|
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
|
NM_000074.3(CD40LG):c.335A>G (p.Glu112Gly)
|
|
|
|
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)
|
rs2076113325
|
|
|
NM_000074.3(CD40LG):c.347-1G>A
|
rs2076118841
|
|
|
NM_000074.3(CD40LG):c.429A>C (p.Lys143Asn)
|
rs1569377744
|
|
|
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn)
|
rs1569377829
|
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
|
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del)
|
rs749094206
|
|
|
NM_000075.4(CDK4):c.156C>G (p.Ser52Arg)
|
rs1955237401
|
|
|
NM_000075.4(CDK4):c.217C>T (p.Arg73Trp)
|
rs1437365423
|
|
|
NM_000075.4(CDK4):c.262A>C (p.Lys88Gln)
|
rs2140387459
|
|
|
NM_000075.4(CDK4):c.306A>C (p.Thr102=)
|
rs201202764
|
|
|
NM_000075.4(CDK4):c.376A>G (p.Arg126Gly)
|
rs1565806573
|
|
|
NM_000075.4(CDK4):c.420T>C (p.Asp140=)
|
rs863224321
|
|
|
NM_000075.4(CDK4):c.573T>C (p.Tyr191=)
|
rs878853623
|
|
|
NM_000075.4(CDK4):c.632A>C (p.Lys211Thr)
|
rs765656720
|
|
|
NM_000075.4(CDK4):c.639C>A (p.Leu213=)
|
rs2140383965
|
|
|
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)
|
rs11547328
|
|
|
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro)
|
rs531817742
|
|
|
NM_000075.4(CDK4):c.724G>A (p.Val242Ile)
|
rs876658903
|
|
|
NM_000075.4(CDK4):c.767C>T (p.Pro256Leu)
|
rs1234167326
|
|
|
NM_000075.4(CDK4):c.868C>A (p.Leu290Met)
|
rs1555201026
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
|
NM_000077.5(CDKN2A):c.104G>A (p.Gly35Glu)
|
rs746834149
|
|
|
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)
|
rs587778189
|
|
|
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His)
|
rs1057519882
|
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
|
NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter)
|
rs121913387
|
|
|
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)
|
rs104894099
|
|
|
NM_000077.5(CDKN2A):c.177G>A (p.Val59=)
|
rs527503775
|
|
|
NM_000077.5(CDKN2A):c.198C>G (p.His66Gln)
|
rs374984975
|
|
|
NM_000077.5(CDKN2A):c.203C>G (p.Ala68Gly)
|
rs1060501260
|
|
|
NM_000077.5(CDKN2A):c.213C>T (p.Asn71=)
|
rs2131095688
|
|
|
NM_000077.5(CDKN2A):c.219C>G (p.Ala73=)
|
rs730881679
|
|
|
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter)
|
rs121913388
|
|
|
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)
|
rs730881675
|
|
|
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln)
|
rs34968276
|
|
|
NM_000077.5(CDKN2A):c.253G>T (p.Ala85Ser)
|
rs878853646
|
|
|
NM_000077.5(CDKN2A):c.292C>T (p.His98Tyr)
|
rs1064793953
|
|
|
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg)
|
rs104894094
|
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
|
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)
|
rs121913386
|
|
|
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter)
|
rs141798398
|
|
|
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val)
|
rs142371511
|
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
|
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)
|
rs104894098
|
|
|
NM_000077.5(CDKN2A):c.388C>A (p.Leu130Met)
|
rs1060501261
|
|
|
NM_000077.5(CDKN2A):c.403G>A (p.Gly135Arg)
|
rs1819686306
|
|
|
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr)
|
rs730881680
|
|
|
NM_000077.5(CDKN2A):c.441C>A (p.Ala147=)
|
rs1057524065
|
|
|
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)
|
rs45476696
|
|
|
NM_000077.5(CDKN2A):c.458-9_458-8delinsT
|
rs1554653291
|
|
|
NM_000077.5(CDKN2A):c.461T>A (p.Ile154Asn)
|
rs1554653284
|
|
|
NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)
|
rs864622263
|
|
|
NM_000077.5(CDKN2A):c.61G>T (p.Ala21Ser)
|
rs1064793082
|
|
|
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)
|
rs1131691186
|
|
|
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)
|
rs1064794292
|
|
|
NM_000077.5(CDKN2A):c.84G>A (p.Val28=)
|
rs1461154048
|
|
|
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)
|
rs878853650
|
|
|
NM_000079.4(CHRNA1):c.44-1G>A
|
|
|
|
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
|
|
|
|
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)
|
rs2151098283
|
|
|
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
|
|
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
|
NM_000080.4(CHRNE):c.703ATC[1] (p.Ile236del)
|
rs2151097320
|
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
|
NM_000080.4(CHRNE):c.914_915delinsTT (p.Gly305Val)
|
|
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
|
NM_000081.4(LYST):c.1691C>T (p.Ala564Val)
|
|
|
|
NM_000081.4(LYST):c.18C>G (p.Asn6Lys)
|
|
|
|
NM_000081.4(LYST):c.2304C>G (p.Cys768Trp)
|
|
|
|
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
|
|
|
|
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
|
|
|
|
NM_000081.4(LYST):c.3256G>A (p.Glu1086Lys)
|
|
|
|
NM_000081.4(LYST):c.5620T>C (p.Phe1874Leu)
|
|
|
|
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
|
|
|
|
NM_000081.4(LYST):c.7957A>G (p.Arg2653Gly)
|
|
|
|
NM_000081.4(LYST):c.8612+13A>G
|
|
|
|
NM_000081.4(LYST):c.8801+14G>T
|
|
|
|
NM_000081.4(LYST):c.9315+6T>C
|
|
|
|
NM_000081.4(LYST):c.9488A>G (p.Tyr3163Cys)
|
|
|
|
NM_000082.4(ERCC8):c.275+1G>A
|
|
|
|
NM_000082.4(ERCC8):c.435_440delinsCAG (p.His148del)
|
|
|
|
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del)
|
rs2112491212
|
|
|
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)
|
rs121434323
|
|
|
NM_000083.3(CLCN1):c.1106A>C (p.His369Pro)
|
|
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
|
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)
|
rs763633152
|
|
|
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
|
rs1027814542
|
|
|
NM_000083.3(CLCN1):c.1363A>T (p.Asn455Tyr)
|
|
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
|
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
|
|
|
|
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)
|
|
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
|
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)
|
rs121912810
|
|
|
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
|
rs761601545
|
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
|
NM_000083.3(CLCN1):c.696+6C>T
|
|
|
|
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp)
|
rs1490537212
|
|
|
NM_000083.3(CLCN1):c.853+19C>A
|
rs748877906
|
|
|
NM_000085.5(CLCNKB):c.1306A>T (p.Ile436Phe)
|
rs200239825
|
|
|
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)
|
|
|
|
NM_000085.5(CLCNKB):c.806C>G (p.Thr269Ser)
|
rs2124096004
|
|
|
NM_000088.3(COL1A1):c.700dup
|
rs2144584155
|
|
|
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)
|
rs193922137
|
|
|
NM_000088.4(COL1A1):c.1200+1G>A
|
rs72648320
|
|
|
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg)
|
rs193922138
|
|
|
NM_000088.4(COL1A1):c.1299+5G>A
|
rs193922139
|
|
|
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala)
|
rs193922140
|
|
|
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
|
|
|
|
NM_000088.4(COL1A1):c.1657del (p.Thr553fs)
|
rs193922141
|
|
|
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)
|
rs1907330109
|
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
|
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
|
rs193922144
|
|
|
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)
|
rs193922145
|
|
|
NM_000088.4(COL1A1):c.2398-1G>C
|
rs193922147
|
|
|
NM_000088.4(COL1A1):c.2418del (p.Gly809fs)
|
rs193922148
|
|
|
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)
|
rs886042260
|
|
|
NM_000088.4(COL1A1):c.2450del (p.Pro817fs)
|
rs193922149
|
|
|
NM_000088.4(COL1A1):c.2451+14C>A
|
|
|
|
NM_000088.4(COL1A1):c.2685del (p.Gly896fs)
|
rs193922151
|
|
|
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg)
|
rs193922152
|
|
|
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs)
|
rs1555572406
|
|
|
NM_000088.4(COL1A1):c.299_300delAG
|
rs193922154
|
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
|
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)
|
rs1555575857
|
|
|
NM_000088.4(COL1A1):c.370-2A>G
|
rs193922155
|
|
|
NM_000088.4(COL1A1):c.4006-9C>T
|
rs193922156
|
|
|
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)
|
rs193922157
|
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
|
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
|
|
|
|
NM_000088.4(COL1A1):c.751-2A>G
|
rs193922158
|
|
|
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter)
|
|
|
|
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser)
|
rs72645328
|
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
|
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)
|
rs755058199
|
|
|
NM_000089.4(COL1A2):c.1557+5G>T
|
rs193922161
|
|
|
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
|
rs1792044352
|
|
|
NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser)
|
rs193922162
|
|
|
NM_000089.4(COL1A2):c.1886C>A (p.Ala629Asp)
|
|
|
|
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
|
rs72658154
|
|
|
NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys)
|
rs1554397369
|
|
|
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)
|
rs193229878
|
|
|
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)
|
rs72658173
|
|
|
NM_000089.4(COL1A2):c.2462_2464del (p.Pro821del)
|
|
|
|
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser)
|
rs72658200
|
|
|
NM_000089.4(COL1A2):c.2674-6G>C
|
rs771442891
|
|
|
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser)
|
rs1344095248
|
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
|
NM_000089.4(COL1A2):c.3106-2del
|
rs193922166
|
|
|
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
|
rs1792298693
|
|
|
NM_000089.4(COL1A2):c.3284del (p.Pro1095fs)
|
rs193922167
|
|
|
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)
|
rs193922168
|
|
|
NM_000089.4(COL1A2):c.3435G>A (p.Gln1145=)
|
rs193922169
|
|
|
NM_000089.4(COL1A2):c.3942A>G (p.Val1314=)
|
|
|
|
NM_000089.4(COL1A2):c.594+118del
|
rs193922172
|
|
|
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)
|
rs193922173
|
|
|
NM_000089.4(COL1A2):c.70+9C>T
|
|
|
|
NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)
|
|
|
|
NM_000089.4(COL1A2):c.81+11del
|
rs193922174
|
|
|
NM_000089.4(COL1A2):c.81+12T>C
|
|
|
|
NM_000089.4(COL1A2):c.845GTG[1] (p.Gly283del)
|
rs193922175
|
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
|
NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val)
|
rs1057521930
|
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
|
NM_000090.4(COL3A1):c.1450G>A (p.Glu484Lys)
|
rs1559056497
|
|
|
NM_000090.4(COL3A1):c.1509+7_1509+21del
|
rs781662866
|
|
|
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg)
|
rs587779584
|
|
|
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu)
|
rs1688305869
|
|
|
NM_000090.4(COL3A1):c.1691G>C (p.Gly564Ala)
|
rs193922176
|
|
|
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)
|
rs1553508338
|
|
|
NM_000090.4(COL3A1):c.1924-14A>T
|
|
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2022+17T>C
|
|
|
|
NM_000090.4(COL3A1):c.2237C>G (p.Pro746Arg)
|
rs2153503064
|
|
|
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=)
|
rs1553508706
|
|
|
NM_000090.4(COL3A1):c.2282_2446-52del
|
|
|
|
NM_000090.4(COL3A1):c.2282_2446-56del
|
|
|
|
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser)
|
rs749803388
|
|
|
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg)
|
rs2153503381
|
|
|
NM_000090.4(COL3A1):c.2607+14C>T
|
|
|
|
NM_000090.4(COL3A1):c.2608-17A>G
|
|
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
|
NM_000090.4(COL3A1):c.2950G>A (p.Gly984Arg)
|
rs2153503630
|
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3201+20A>G
|
rs2153503735
|
|
|
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=)
|
rs1060503873
|
|
|
NM_000090.4(COL3A1):c.334-11C>G
|
|
|
|
NM_000090.4(COL3A1):c.3417+1G>A
|
rs587779444
|
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
|
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)
|
rs964468427
|
|
|
NM_000090.4(COL3A1):c.3740G>C (p.Ser1247Thr)
|
|
|
|
NM_000090.4(COL3A1):c.4011+10del
|
|
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
|
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
|
|
|
|
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=)
|
rs1054676420
|
|
|
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
|
|
|
|
NM_000090.4(COL3A1):c.447+1G>A
|
rs1559053022
|
|
|
NM_000090.4(COL3A1):c.448-6C>A
|
rs751856761
|
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
|
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)
|
rs886038977
|
|
|
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
|
NM_000090.4(COL3A1):c.660T>C (p.Ala220=)
|
|
|
|
NM_000090.4(COL3A1):c.716C>A (p.Pro239His)
|
rs1688155467
|
|
|
NM_000090.4(COL3A1):c.745-10T>C
|
rs1048016555
|
|
|
NM_000090.4(COL3A1):c.76G>C (p.Glu26Gln)
|
rs1687767912
|
|
|
NM_000090.4(COL3A1):c.79+7A>T
|
rs1687768235
|
|
|
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)
|
rs772827388
|
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
|
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)
|
rs587779673
|
|
|
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
|
|
|
|
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)
|
rs13424243
|
|
|
NM_000091.5(COL4A3):c.1315+18G>A
|
|
|
|
NM_000091.5(COL4A3):c.1316-19T>C
|
|
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
|
NM_000091.5(COL4A3):c.1617A>C (p.Glu539Asp)
|
rs2071190170
|
|
|
NM_000091.5(COL4A3):c.1987C>G (p.Pro663Ala)
|
rs747891356
|
|
|
NM_000091.5(COL4A3):c.2189G>C (p.Gly730Ala)
|
|
|
|
NM_000091.5(COL4A3):c.2210T>A (p.Leu737His)
|
rs760719817
|
|
|
NM_000091.5(COL4A3):c.223C>A (p.Gln75Lys)
|
|
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
|
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
|
|
|
|
NM_000091.5(COL4A3):c.2489-3C>T
|
|
|
|
NM_000091.5(COL4A3):c.2509C>A (p.Pro837Thr)
|
rs2106163548
|
|
|
NM_000091.5(COL4A3):c.2522C>T (p.Pro841Leu)
|
|
|
|
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)
|
rs1553760257
|
|
|
NM_000091.5(COL4A3):c.2657-15A>C
|
|
|
|
NM_000091.5(COL4A3):c.2657-6C>T
|
|
|
|
NM_000091.5(COL4A3):c.26C>T (p.Pro9Leu)
|
|
|
|
NM_000091.5(COL4A3):c.2714C>T (p.Pro905Leu)
|
|
|
|
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
|
|
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
|
NM_000091.5(COL4A3):c.2935G>A (p.Gly979Ser)
|
rs948395447
|
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
|
NM_000091.5(COL4A3):c.3211-1G>C
|
rs1553762936
|
|
|
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
|
|
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
|
NM_000091.5(COL4A3):c.3337+3A>G
|
|
|
|
NM_000091.5(COL4A3):c.3418+15C>T
|
|
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
|
NM_000091.5(COL4A3):c.3752-14T>C
|
|
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
|
NM_000091.5(COL4A3):c.3974G>T (p.Gly1325Val)
|
|
|
|
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
|
|
|
|
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)
|
rs876657397
|
|
|
NM_000091.5(COL4A3):c.4213G>C (p.Ala1405Pro)
|
|
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
|
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)
|
rs748026887
|
|
|
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)
|
rs570469692
|
|
|
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs)
|
rs1445615417
|
|
|
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
|
rs2073646176
|
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
|
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
|
|
|
|
NM_000091.5(COL4A3):c.525G>T (p.Leu175Phe)
|
|
|
|
NM_000091.5(COL4A3):c.610-1G>A
|
|
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
|
NM_000091.5(COL4A3):c.687+11T>C
|
|
|
|
NM_000091.5(COL4A3):c.688-11T>C
|
|
|
|
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala)
|
rs1574699782
|
|
|
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter)
|
rs2125934541
|
|
|
NM_000091.5(COL4A3):c.86A>G (p.Lys29Arg)
|
rs999240932
|
|
|
NM_000092.5(COL4A4):c.-9T>C
|
|
|
|
NM_000092.5(COL4A4):c.1053C>A (p.His351Gln)
|
|
|
|
NM_000092.5(COL4A4):c.1308G>C (p.Gly436=)
|
|
|
|
NM_000092.5(COL4A4):c.139del (p.Cys47fs)
|
|
|
|
NM_000092.5(COL4A4):c.1629G>C (p.Lys543Asn)
|
|
|
|
NM_000092.5(COL4A4):c.16A>G (p.Ile6Val)
|
|
|
|
NM_000092.5(COL4A4):c.1738C>T (p.Pro580Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3289+5A>G
|
|
|
|
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
|
|
|
|
NM_000092.5(COL4A4):c.372+13A>T
|
|
|
|
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)
|
rs777134408
|
|
|
NM_000092.5(COL4A4):c.3923C>G (p.Pro1308Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3973+17G>A
|
|
|
|
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg)
|
rs1553624029
|
|
|
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4081+18A>G
|
|
|
|
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4809+14C>T
|
|
|
|
NM_000092.5(COL4A4):c.4851G>C (p.Met1617Ile)
|
|
|
|
NM_000092.5(COL4A4):c.567_568del (p.Asp191fs)
|
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
|
NM_000092.5(COL4A4):c.870+19T>C
|
|
|
|
NM_000092.5(COL4A4):c.953C>T (p.Ser318Phe)
|
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
|
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
|
|
|
|
NM_000093.5(COL5A1):c.1332+16C>T
|
|
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
|
NM_000093.5(COL5A1):c.1719+14A>G
|
|
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
|
NM_000093.5(COL5A1):c.2187+19G>A
|
|
|
|
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)
|
rs1554798918
|
|
|
NM_000093.5(COL5A1):c.2485-14T>C
|
|
|
|
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=)
|
rs201556585
|
|
|
NM_000093.5(COL5A1):c.2592+16C>G
|
rs145429817
|
|
|
NM_000093.5(COL5A1):c.277+15C>A
|
|
|
|
NM_000093.5(COL5A1):c.2800-18C>A
|
rs73664144
|
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
|
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)
|
rs1179967153
|
|
|
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
|
rs765082093
|
|
|
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)
|
rs886042045
|
|
|
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln)
|
rs1838524385
|
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
|
NM_000093.5(COL5A1):c.4392+18T>C
|
|
|
|
NM_000093.5(COL5A1):c.4393-4_4398del
|
|
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
|
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)
|
rs2228560
|
|
|
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
|
|
|
|
NM_000093.5(COL5A1):c.4893G>A (p.Thr1631=)
|
|
|
|
NM_000093.5(COL5A1):c.4994A>T (p.Asp1665Val)
|
|
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
|
NM_000093.5(COL5A1):c.5371-14T>C
|
|
|
|
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
|
|
|
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
|
NM_000094.4(COL7A1):c.138C>A (p.Ser46=)
|
|
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
|
NM_000094.4(COL7A1):c.190C>T (p.Leu64=)
|
|
|
|
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn)
|
|
|
|
NM_000094.4(COL7A1):c.2239A>G (p.Thr747Ala)
|
|
|
|
NM_000094.4(COL7A1):c.2317C>A (p.Pro773Thr)
|
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
|
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn)
|
|
|
|
NM_000094.4(COL7A1):c.2622C>A (p.His874Gln)
|
|
|
|
NM_000094.4(COL7A1):c.2697C>G (p.His899Gln)
|
|
|
|
NM_000094.4(COL7A1):c.3411C>G (p.Ala1137=)
|
|
|
|
NM_000094.4(COL7A1):c.3672G>A (p.Gln1224=)
|
|
|
|
NM_000094.4(COL7A1):c.3831+1G>A
|
|
|
|
NM_000094.4(COL7A1):c.3975+2T>A
|
rs753368984
|
|
|
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
|
|
|
|
NM_000094.4(COL7A1):c.4093G>T (p.Gly1365Trp)
|
|
|
|
NM_000094.4(COL7A1):c.4342-10T>A
|
|
|
|
NM_000094.4(COL7A1):c.4342-13G>A
|
|
|
|
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys)
|
|
|
|
NM_000094.4(COL7A1):c.4437+16G>A
|
|
|
|
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala)
|
|
|
|
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter)
|
rs2107718927
|
|
|
NM_000094.4(COL7A1):c.4753C>T (p.Pro1585Ser)
|
|
|
|
NM_000094.4(COL7A1):c.4786C>T (p.Pro1596Ser)
|
|
|
|
NM_000094.4(COL7A1):c.4900-1G>A
|
rs2107710536
|
|
|
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val)
|
|
|
|
NM_000094.4(COL7A1):c.5370T>A (p.Ala1790=)
|
|
|
|
NM_000094.4(COL7A1):c.5389-2_5389-1del
|
|
|
|
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His)
|
|
|
|
NM_000094.4(COL7A1):c.5772+14C>T
|
|
|
|
NM_000094.4(COL7A1):c.5772+1del
|
rs1295547257
|
|
|
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)
|
rs757415879
|
|
|
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu)
|
|
|
|
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)
|
rs121912836
|
|
|
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu)
|
|
|
|
NM_000094.4(COL7A1):c.6339G>A (p.Lys2113=)
|
|
|
|
NM_000094.4(COL7A1):c.6394-16G>A
|
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
|
NM_000094.4(COL7A1):c.6818G>A (p.Ser2273Asn)
|
|
|
|
NM_000094.4(COL7A1):c.682+1G>T
|
|
|
|
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg)
|
rs1575430201
|
|
|
NM_000094.4(COL7A1):c.7269G>A (p.Glu2423=)
|
|
|
|
NM_000094.4(COL7A1):c.7335G>A (p.Pro2445=)
|
|
|
|
NM_000094.4(COL7A1):c.7420C>T (p.Arg2474Cys)
|
|
|
|
NM_000094.4(COL7A1):c.7440+20C>T
|
|
|
|
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
|
rs765529435
|
|
|
NM_000094.4(COL7A1):c.7580G>A (p.Gly2527Glu)
|
|
|
|
NM_000094.4(COL7A1):c.7669G>A (p.Gly2557Arg)
|
|
|
|
NM_000094.4(COL7A1):c.7758+15A>T
|
|
|
|
NM_000094.4(COL7A1):c.7875+16G>A
|
|
|
|
NM_000094.4(COL7A1):c.846+18A>G
|
|
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
|
NM_000094.4(COL7A1):c.8527+12T>G
|
|
|
|
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
|
rs903839030
|
|
|
NM_000095.3(COMP):c.762+13G>T
|
|
|
|
NM_000096.4(CP):c.1123T>C (p.Tyr375His)
|
rs386134128
|
|
|
NM_000096.4(CP):c.1del (p.Met1*)
|
rs750317184
|
|
|
NM_000096.4(CP):c.2066del (p.Pro689fs)
|
rs386134147
|
|
|
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)
|
rs1135401784
|
|
|
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)
|
rs754363068
|
|
|
NM_000098.3(CPT2):c.1223_1224del (p.Ser408fs)
|
rs752373512
|
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
|
NM_000098.3(CPT2):c.1512G>T (p.Pro504=)
|
rs150953507
|
|
|
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)
|
rs1572385947
|
|
|
NM_000098.3(CPT2):c.1784del (p.Pro595fs)
|
rs760255368
|
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
|
|
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)
|
rs780286639
|
|
|
NM_000098.3(CPT2):c.1932dup (p.Glu645fs)
|
rs1645445189
|
|
|
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)
|
rs200080591
|
|
|
NM_000098.3(CPT2):c.49G>T (p.Gly17Cys)
|
rs2100254762
|
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
|
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly)
|
rs199673903
|
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
|
NM_000101.4(CYBA):c.288-3_300del
|
rs1567608830
|
|
|
NM_000101.4(CYBA):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)
|
rs104894514
|
|
|
NM_000101.4(CYBA):c.472_484del (p.Pro160fs)
|
rs1272232395
|
|
|
NM_000101.4(CYBA):c.521delinsCGGC (p.Val174delinsAlaAla)
|
|
|
|
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup)
|
rs760275837
|
|
|
NM_000101.4(CYBA):c.74G>A (p.Gly25Asp)
|
rs179363891
|
|
|
NM_000101.4(CYBA):c.74G>T (p.Gly25Val)
|
rs179363891
|
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
|
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)
|
rs1423560123
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
|
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
|
rs1844148108
|
|
|
NM_000102.4(CYP17A1):c.337G>A (p.Ala113Thr)
|
|
|
|
NM_000102.4(CYP17A1):c.484G>A (p.Gly162Arg)
|
|
|
|
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu)
|
rs752540777
|
|
|
NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly)
|
rs1428700861
|
|
|
NM_000102.4(CYP17A1):c.667-13_667-10del
|
rs1844127277
|
|
|
NM_000102.4(CYP17A1):c.776T>C (p.Ile259Thr)
|
rs1449519548
|
|
|
NM_000103.4(CYP19A1):c.1093C>T (p.Arg365Trp)
|
|
|
|
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser)
|
|
|
|
NM_000104.4(CYP1B1):c.-286C>T
|
rs78928924
|
|
|
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)
|
|
|
|
NM_000104.4(CYP1B1):c.1309C>G (p.Pro437Ala)
|
|
|
|
NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)
|
|
|
|
NM_000104.4(CYP1B1):c.284T>C (p.Val95Ala)
|
|
|
|
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr)
|
rs72549389
|
|
|
NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)
|
|
|
|
NM_000104.4(CYP1B1):c.31T>C (p.Trp11Arg)
|
|
|
|
NM_000104.4(CYP1B1):c.343G>C (p.Ala115Pro)
|
|
|
|
NM_000104.4(CYP1B1):c.350G>A (p.Arg117Gln)
|
rs1450783755
|
|
|
NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu)
|
rs2125316074
|
|
|
NM_000104.4(CYP1B1):c.732G>T (p.Met244Ile)
|
|
|
|
NM_000104.4(CYP1B1):c.883G>A (p.Ala295Thr)
|
rs772259541
|
|
|
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu)
|
rs72549382
|
|
|
NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs)
|
rs765666893
|
|
|
NM_000104.4(CYP1B1):c.988_989delinsTT (p.Ala330Phe)
|
|
|
|
NM_000107.3(DDB2):c.702+4C>T
|
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
|
NM_000108.5(DLD):c.268-1G>A
|
|
|
|
NM_000110.3(DPYD):c.1977_1983delTTCTGGA
|
rs1440380546
|
|
|
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)
|
rs749571474
|
|
|
NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer)
|
rs769925158
|
|
|
NM_000110.4(DPYD):c.1537G>C (p.Ala513Pro)
|
|
|
|
NM_000110.4(DPYD):c.1764del (p.Arg589fs)
|
rs1346124437
|
|
|
NM_000110.4(DPYD):c.1905+1G>C
|
rs3918290
|
|
|
NM_000110.4(DPYD):c.1A>C (p.Met1Leu)
|
|
|
|
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)
|
rs773499329
|
|
|
NM_000110.4(DPYD):c.233+1G>T
|
rs1553247675
|
|
|
NM_000110.4(DPYD):c.2746del (p.Arg916fs)
|
|
|
|
NM_000110.4(DPYD):c.2843T>C (p.Ile948Thr)
|
|
|
|
NM_000110.4(DPYD):c.2907+9C>G
|
|
|
|
NM_000110.4(DPYD):c.2976T>C (p.Cys992=)
|
|
|
|
NM_000110.4(DPYD):c.2983G>T (p.Val995Phe)
|
rs1801268
|
|
|
NM_000110.4(DPYD):c.299_302del (p.Phe100fs)
|
rs72549309
|
|
|
NM_000110.4(DPYD):c.3040_3041del (p.Lys1014fs)
|
|
|
|
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)
|
rs114096998
|
|
|
NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser)
|
rs114096998
|
|
|
NM_000110.4(DPYD):c.39+4C>G
|
|
|
|
NM_000110.4(DPYD):c.464T>A (p.Leu155Ter)
|
rs2101026231
|
|
|
NM_000110.4(DPYD):c.623G>A (p.Arg208Gln)
|
|
|
|
NM_000110.4(DPYD):c.658C>T (p.Gln220Ter)
|
rs1220608789
|
|
|
NM_000110.4(DPYD):c.710C>T (p.Pro237Leu)
|
|
|
|
NM_000110.4(DPYD):c.731A>C (p.Glu244Ala)
|
|
|
|
NM_000110.4(DPYD):c.967G>A (p.Ala323Thr)
|
|
|
|
NM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile)
|
|
|
|
NM_000111.3(SLC26A3):c.1372A>G (p.Ile458Val)
|
|
|
|
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu)
|
rs386833480
|
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
|
NM_000112.4(SLC26A2):c.1034T>A (p.Leu345Ter)
|
|
|
|
NM_000112.4(SLC26A2):c.1153G>A (p.Asp385Asn)
|
|
|
|
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
|
rs780990131
|
|
|
NM_000112.4(SLC26A2):c.1448T>C (p.Leu483Pro)
|
|
|
|
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)
|
rs1755094376
|
|
|
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)
|
rs766836061
|
|
|
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)
|
rs386833498
|
|
|
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)
|
rs1554095397
|
|
|
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu)
|
rs2113699627
|
|
|
NM_000112.4(SLC26A2):c.2069_2070del (p.Val690fs)
|
rs1755106202
|
|
|
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)
|
rs1554095433
|
|
|
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)
|
rs786204675
|
|
|
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)
|
rs763198695
|
|
|
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)
|
rs386833507
|
|
|
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)
|
rs878853656
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
|
NM_000117.3(EMD):c.116_143del (p.Phe39fs)
|
rs1569552080
|
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
|
NM_000117.3(EMD):c.266-2A>G
|
rs727503036
|
|
|
NM_000117.3(EMD):c.266-35_266-18dup
|
rs200992013
|
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
|
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
|
|
|
|
NM_000122.2(ERCC3):c.172G>T (p.Ala58Ser)
|
rs587778277
|
|
|
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys)
|
rs568193912
|
|
|
NM_000122.2(ERCC3):c.471+1G>A
|
rs1558964705
|
|
|
NM_000123.4(ERCC5):c.1068del (p.Ser357fs)
|
rs1325131028
|
|
|
NM_000123.4(ERCC5):c.1975del (p.Ser659fs)
|
rs1882806435
|
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
|
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs)
|
rs779078202
|
|
|
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
|
|
|
|
NM_000123.4(ERCC5):c.2751del (p.Lys917fs)
|
rs752661599
|
|
|
NM_000123.4(ERCC5):c.2890del (p.Arg964fs)
|
|
|
|
NM_000123.4(ERCC5):c.3021dup (p.Lys1008Ter)
|
|
|
|
NM_000123.4(ERCC5):c.3157= (p.Gly1053=)
|
|
|
|
NM_000123.4(ERCC5):c.3188_3192del (p.Thr1063fs)
|
rs2140543372
|
|
|
NM_000123.4(ERCC5):c.3238= (p.Gly1080=)
|
|
|
|
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)
|
rs9514067
|
|
|
NM_000123.4(ERCC5):c.3256G>A (p.Gly1086Arg)
|
|
|
|
NM_000123.4(ERCC5):c.3556dup (p.Thr1186fs)
|
rs769870504
|
|
|
NM_000123.4(ERCC5):c.560A>C (p.Asp187Ala)
|
rs2140523174
|
|
|
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr)
|
rs141369732
|
|
|
NM_000123.4(ERCC5):c.881-26T>G
|
|
|
|
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs)
|
rs1882641004
|
|
|
NM_000124.4(ERCC6):c.1339C>T (p.Arg447Trp)
|
|
|
|
NM_000124.4(ERCC6):c.1685+12T>C
|
|
|
|
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
|
|
|
|
NM_000124.4(ERCC6):c.1762TGG[1] (p.Trp589del)
|
rs760919459
|
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
|
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
|
|
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
|
NM_000124.4(ERCC6):c.2870T>G (p.Val957Gly)
|
|
|
|
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs)
|
rs1590406503
|
|
|
NM_000124.4(ERCC6):c.3124C>T (p.Pro1042Ser)
|
rs1347404070
|
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
|
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs)
|
rs2132639937
|
|
|
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
|
|
|
|
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs)
|
rs1272960343
|
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
|
NM_000126.4(ETFA):c.733G>A (p.Val245Ile)
|
|
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
|
NM_000128.4(F11):c.1106A>C (p.Tyr369Ser)
|
|
|
|
NM_000128.4(F11):c.1204C>T (p.Gln402Ter)
|
rs1741002305
|
|
|
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
|
|
|
|
NM_000128.4(F11):c.1305-10T>A
|
|
|
|
NM_000128.4(F11):c.1831G>A (p.Val611Met)
|
|
|
|
NM_000128.4(F11):c.452A>G (p.Tyr151Cys)
|
rs281875273
|
|
|
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)
|
rs1459304265
|
|
|
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
|
|
|
|
NM_000128.4(F11):c.752_755+25delinsT
|
|
|
|
NM_000128.4(F11):c.977G>A (p.Arg326His)
|
rs1554082932
|
|
|
NM_000129.4(F13A1):c.1135G>C (p.Ala379Pro)
|
|
|
|
NM_000129.4(F13A1):c.1213G>A (p.Asp405Asn)
|
|
|
|
NM_000129.4(F13A1):c.1261G>A (p.Gly421Ser)
|
|
|
|
NM_000129.4(F13A1):c.1622G>A (p.Arg541Gln)
|
rs367679357
|
|
|
NM_000129.4(F13A1):c.1796T>C (p.Leu599Pro)
|
|
|
|
NM_000129.4(F13A1):c.27del (p.Phe9fs)
|
rs763797788
|
|
|
NM_000129.4(F13A1):c.872C>G (p.Ser291Trp)
|
|
|
|
NM_000132.4(F8):c.1658C>G (p.Ser553Cys)
|
|
|
|
NM_000132.4(F8):c.1804C>G (p.Arg602Gly)
|
rs137852424
|
|
|
NM_000132.4(F8):c.241G>A (p.Ala81Thr)
|
|
|
|
NM_000132.4(F8):c.241G>T (p.Ala81Ser)
|
|
|
|
NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)
|
|
|
|
NM_000132.4(F8):c.412del (p.Ser138fs)
|
|
|
|
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
|
|
|
|
NM_000132.4(F8):c.5219+13_5219+20del
|
|
|
|
NM_000132.4(F8):c.5220-16del
|
|
|
|
NM_000132.4(F8):c.5545T>A (p.Phe1849Ile)
|
|
|
|
NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)
|
|
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
|
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)
|
rs28933682
|
|
|
NM_000132.4(F8):c.6010A>G (p.Thr2004Ala)
|
|
|
|
NM_000132.4(F8):c.602G>A (p.Gly201Glu)
|
|
|
|
NM_000132.4(F8):c.6077A>G (p.His2026Arg)
|
|
|
|
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
|
|
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
|
NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)
|
|
|
|
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del)
|
rs2072706332
|
|
|
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)
|
rs1342196860
|
|
|
NM_000132.4(F8):c.6956dup (p.Leu2320fs)
|
rs1475873048
|
|
|
NM_000132.4(F8):c.701C>G (p.Ser234Cys)
|
|
|
|
NM_000132.4(F8):c.766T>A (p.Tyr256Asn)
|
rs1569559955
|
|
|
NM_000132.4(F8):c.839G>A (p.Gly280Asp)
|
|
|
|
NM_000132.4(F8):c.935T>C (p.Phe312Ser)
|
rs137852405
|
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
|
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
|
|
|
|
NM_000133.4(F9):c.1025C>T (p.Thr342Met)
|
rs137852254
|
|
|
NM_000133.4(F9):c.1086del (p.Arg364fs)
|
|
|
|
NM_000133.4(F9):c.1105C>T (p.Leu369Phe)
|
rs2148367939
|
|
|
NM_000133.4(F9):c.1136G>A (p.Arg379Gln)
|
rs137852259
|
|
|
NM_000133.4(F9):c.1148T>C (p.Leu383Pro)
|
rs1387119011
|
|
|
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
|
|
|
|
NM_000133.4(F9):c.127C>T (p.Arg43Trp)
|
rs1603264205
|
|
|
NM_000133.4(F9):c.223C>T (p.Arg75Ter)
|
rs137852227
|
|
|
NM_000133.4(F9):c.374G>A (p.Gly125Glu)
|
|
|
|
NM_000133.4(F9):c.392-7_392-4del
|
rs2148361119
|
|
|
NM_000133.4(F9):c.424G>C (p.Glu142Gln)
|
|
|
|
NM_000133.4(F9):c.466T>C (p.Ser156Pro)
|
|
|
|
NM_000133.4(F9):c.520+19T>C
|
|
|
|
NM_000133.4(F9):c.520G>A (p.Val174Met)
|
rs1603265504
|
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
|
NM_000133.4(F9):c.682G>A (p.Val228Ile)
|
|
|
|
NM_000133.4(F9):c.731T>C (p.Leu244Ser)
|
rs1603267171
|
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_000133.4(F9):c.881G>A (p.Arg294Gln)
|
rs137852249
|
|
|
NM_000133.4(F9):c.971C>A (p.Pro324His)
|
|
|
|
NM_000133.4(F9):c.997C>T (p.Pro333Ser)
|
rs2148367784
|
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
|
NM_000135.4(FANCA):c.1715+8G>A
|
rs1209332039
|
|
|
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val)
|
rs146491000
|
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
|
NM_000135.4(FANCA):c.199C>A (p.Pro67Thr)
|
rs575469396
|
|
|
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
|
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
|
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
|
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
|
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=)
|
rs753063086
|
|
|
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly)
|
rs763856094
|
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
|
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
|
NM_000135.4(FANCA):c.427-3C>G
|
rs2040847223
|
|
|
NM_000135.4(FANCA):c.4309C>T (p.Gln1437Ter)
|
|
|
|
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)
|
rs758528624
|
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
|
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)
|
rs550462055
|
|
|
NM_000136.3(FANCC):c.1310A>C (p.Gln437Pro)
|
rs912537449
|
|
|
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
|
rs1035139114
|
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
|
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
|
rs730881731
|
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
|
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
|
|
|
|
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)
|
rs1800364
|
|
|
NM_000136.3(FANCC):c.592C>T (p.Pro198Ser)
|
rs2135427761
|
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
|
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
|
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)
|
rs121965073
|
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
|
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
|
|
|
|
NM_000137.4(FAH):c.648C>G (p.Ile216Met)
|
rs147016995
|
|
|
NM_000137.4(FAH):c.707-1G>C
|
rs149052294
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
|
NM_000138.4(FBN1):c.4812_4813delinsCT (p.Leu1604_Glu1605delinsPheTer)
|
rs1566903995
|
|
|
NM_000138.4(FBN1):c.7491_7498delinsAGCAACACAACCAAACAACACAATG (p.Phe2498fs)
|
rs1566891846
|
|
|
NM_000138.5(FBN1):c.-117del
|
rs193922178
|
|
|
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)
|
rs1566918075
|
|
|
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro)
|
rs727504361
|
|
|
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
|
rs886039550
|
|
|
NM_000138.5(FBN1):c.1088del (p.Gly363fs)
|
rs1555400598
|
|
|
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)
|
rs794728165
|
|
|
NM_000138.5(FBN1):c.10G>A (p.Gly4Arg)
|
rs1890263469
|
|
|
NM_000138.5(FBN1):c.1147+19A>G
|
rs369942195
|
|
|
NM_000138.5(FBN1):c.1147+4A>G
|
rs2043844451
|
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
|
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
|
rs534127494
|
|
|
NM_000138.5(FBN1):c.1181T>G (p.Val394Gly)
|
rs1555400427
|
|
|
NM_000138.5(FBN1):c.1185dup (p.Pro396fs)
|
rs2043801575
|
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
|
NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
|
rs113245313
|
|
|
NM_000138.5(FBN1):c.1297G>T (p.Glu433Ter)
|
rs2141330884
|
|
|
NM_000138.5(FBN1):c.1317G>A (p.Arg439=)
|
rs2043798918
|
|
|
NM_000138.5(FBN1):c.1348A>G (p.Thr450Ala)
|
rs1566916727
|
|
|
NM_000138.5(FBN1):c.1377_1378del (p.Cys460fs)
|
rs1597581008
|
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
|
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)
|
rs1555400380
|
|
|
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)
|
rs794728326
|
|
|
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly)
|
rs794728326
|
|
|
NM_000138.5(FBN1):c.1427G>T (p.Cys476Phe)
|
rs2043792070
|
|
|
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)
|
rs1555400374
|
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
|
NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser)
|
rs1156747241
|
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
|
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
|
|
|
|
NM_000138.5(FBN1):c.1526G>T (p.Gly509Val)
|
rs2141327790
|
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
|
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)
|
rs1060501036
|
|
|
NM_000138.5(FBN1):c.1540C>G (p.Gln514Glu)
|
|
|
|
NM_000138.5(FBN1):c.156G>A (p.Ala52=)
|
|
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
|
NM_000138.5(FBN1):c.159T>A (p.Leu53=)
|
|
|
|
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)
|
rs1555400063
|
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
|
NM_000138.5(FBN1):c.164+2T>A
|
rs727503058
|
|
|
NM_000138.5(FBN1):c.164+4A>G
|
rs1890257515
|
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
|
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)
|
rs137854462
|
|
|
NM_000138.5(FBN1):c.165-32del
|
rs193922180
|
|
|
NM_000138.5(FBN1):c.165-46CTT[2]
|
rs386134232
|
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
|
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)
|
rs193922183
|
|
|
NM_000138.5(FBN1):c.1714+1G>T
|
rs2043745437
|
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
|
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys)
|
rs1259811604
|
|
|
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)
|
rs1555399974
|
|
|
NM_000138.5(FBN1):c.1751A>G (p.Asn584Ser)
|
rs2043732580
|
|
|
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)
|
rs794728176
|
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
|
NM_000138.5(FBN1):c.1837G>T (p.Asp613Tyr)
|
rs1555399943
|
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
|
NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly)
|
rs25457
|
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
|
NM_000138.5(FBN1):c.1860T>C (p.Pro620=)
|
rs1555399834
|
|
|
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)
|
rs1566914030
|
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
|
NM_000138.5(FBN1):c.18_31dup (p.Leu11fs)
|
rs1890262867
|
|
|
NM_000138.5(FBN1):c.1916G>C (p.Cys639Ser)
|
rs878853676
|
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
|
NM_000138.5(FBN1):c.1972C>T (p.Arg658Trp)
|
rs751517759
|
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
|
NM_000138.5(FBN1):c.2001A>G (p.Arg667=)
|
rs1566913738
|
|
|
NM_000138.5(FBN1):c.2042C>A (p.Ser681Tyr)
|
rs1555399766
|
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
|
NM_000138.5(FBN1):c.2096_2097del (p.Cys699fs)
|
rs1555399748
|
|
|
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)
|
rs1555399481
|
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
|
NM_000138.5(FBN1):c.2179T>G (p.Cys727Gly)
|
rs1064794025
|
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
|
NM_000138.5(FBN1):c.2225T>C (p.Leu742Pro)
|
rs1555399377
|
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
|
NM_000138.5(FBN1):c.2235C>G (p.Thr745=)
|
|
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
|
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
|
NM_000138.5(FBN1):c.2381dup (p.Phe796fs)
|
rs2141305022
|
|
|
NM_000138.5(FBN1):c.2386T>C (p.Phe796Leu)
|
rs1555399266
|
|
|
NM_000138.5(FBN1):c.2420-9_2420-8delinsAGC
|
rs1555399217
|
|
|
NM_000138.5(FBN1):c.2422A>G (p.Ile808Val)
|
|
|
|
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)
|
rs193921256
|
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
|
NM_000138.5(FBN1):c.248-17C>G
|
|
|
|
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg)
|
rs193922190
|
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
|
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val)
|
rs2043596507
|
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
|
NM_000138.5(FBN1):c.2646G>A (p.Ala882=)
|
rs376040442
|
|
|
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)
|
rs2043594601
|
|
|
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)
|
rs112660651
|
|
|
NM_000138.5(FBN1):c.2677+11C>T
|
|
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
|
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)
|
rs1057523406
|
|
|
NM_000138.5(FBN1):c.2729-17dup
|
rs35314876
|
|
|
NM_000138.5(FBN1):c.2800A>T (p.Lys934Ter)
|
|
|
|
NM_000138.5(FBN1):c.2804G>A (p.Cys935Tyr)
|
rs1566910918
|
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
|
NM_000138.5(FBN1):c.2837del (p.Thr946fs)
|
rs2043568185
|
|
|
NM_000138.5(FBN1):c.2855-139dup
|
rs200982490
|
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
|
NM_000138.5(FBN1):c.2939G>T (p.Cys980Phe)
|
rs1555398816
|
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
|
NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter)
|
rs1057523654
|
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
|
NM_000138.5(FBN1):c.3082+9T>C
|
rs746303949
|
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
|
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=)
|
rs112384723
|
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
|
NM_000138.5(FBN1):c.3187dup (p.Ser1063fs)
|
rs1566909885
|
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
|
NM_000138.5(FBN1):c.3208+13G>A
|
rs2043527577
|
|
|
NM_000138.5(FBN1):c.3209-13T>A
|
rs1555398650
|
|
|
NM_000138.5(FBN1):c.3209-13T>C
|
|
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
|
NM_000138.5(FBN1):c.3337+13del
|
rs563620440
|
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
|
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)
|
rs137854468
|
|
|
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)
|
rs1064794882
|
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
|
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs)
|
rs2043515102
|
|
|
NM_000138.5(FBN1):c.349C>T (p.Gln117Ter)
|
rs2044551565
|
|
|
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)
|
rs775417975
|
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
|
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=)
|
rs150912619
|
|
|
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys)
|
rs751764864
|
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[7]
|
rs72158035
|
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[8]
|
rs72158035
|
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
|
NM_000138.5(FBN1):c.3609A>G (p.Ile1203Met)
|
|
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
|
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)
|
rs1555398387
|
|
|
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)
|
rs1555398377
|
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
|
NM_000138.5(FBN1):c.3800A>G (p.Asp1267Gly)
|
|
|
|
NM_000138.5(FBN1):c.385T>A (p.Cys129Ser)
|
rs199474693
|
|
|
NM_000138.5(FBN1):c.3876A>G (p.Leu1292=)
|
|
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
|
NM_000138.5(FBN1):c.391G>A (p.Asp131Asn)
|
rs2044550847
|
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
|
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)
|
rs1555397725
|
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
|
NM_000138.5(FBN1):c.4060del (p.Trp1354fs)
|
rs1555397707
|
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
|
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys)
|
rs794728218
|
|
|
NM_000138.5(FBN1):c.4155del (p.Ser1386fs)
|
rs2043402071
|
|
|
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)
|
rs749196340
|
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
|
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr)
|
rs1352478541
|
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
|
NM_000138.5(FBN1):c.4190del (p.Gly1397fs)
|
rs2043401531
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
|
NM_000138.5(FBN1):c.4224C>A (p.Cys1408Ter)
|
rs1566905978
|
|
|
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)
|
rs1566905976
|
|
|
NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)
|
rs2043386417
|
|
|
NM_000138.5(FBN1):c.42C>T (p.Thr14=)
|
rs1405903278
|
|
|
NM_000138.5(FBN1):c.4308G>A (p.Val1436=)
|
|
|
|
NM_000138.5(FBN1):c.4311del (p.Ser1438fs)
|
rs2141277871
|
|
|
NM_000138.5(FBN1):c.4337-1G>A
|
rs1555397424
|
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
|
NM_000138.5(FBN1):c.4409G>T (p.Cys1470Phe)
|
rs2043365537
|
|
|
NM_000138.5(FBN1):c.441del (p.Gln147fs)
|
rs1555405028
|
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
|
NM_000138.5(FBN1):c.450T>C (p.Cys150=)
|
rs1038466745
|
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
|
NM_000138.5(FBN1):c.4550T>C (p.Phe1517Ser)
|
rs2043340822
|
|
|
NM_000138.5(FBN1):c.4551del (p.Phe1517fs)
|
rs1555397201
|
|
|
NM_000138.5(FBN1):c.4562del (p.Pro1521fs)
|
rs886039035
|
|
|
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=)
|
rs2141272876
|
|
|
NM_000138.5(FBN1):c.4569_4577delinsT (p.Val1524fs)
|
|
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
|
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser)
|
rs112559031
|
|
|
NM_000138.5(FBN1):c.4607del (p.Leu1536fs)
|
rs1555397173
|
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
|
NM_000138.5(FBN1):c.4640_4641del (p.Thr1547fs)
|
rs1555397163
|
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
|
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=)
|
rs193922208
|
|
|
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala)
|
rs1597548645
|
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
|
NM_000138.5(FBN1):c.47T>G (p.Leu16Arg)
|
rs1555407424
|
|
|
NM_000138.5(FBN1):c.4817-14T>G
|
|
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
|
NM_000138.5(FBN1):c.4940A>T (p.Asp1647Val)
|
rs1566903908
|
|
|
NM_000138.5(FBN1):c.4942+3A>G
|
rs2043313628
|
|
|
NM_000138.5(FBN1):c.4954T>C (p.Cys1652Arg)
|
rs1566903565
|
|
|
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr)
|
rs397515818
|
|
|
NM_000138.5(FBN1):c.4981G>A (p.Gly1661Arg)
|
rs2043300995
|
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
|
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)
|
rs112930491
|
|
|
NM_000138.5(FBN1):c.5021G>C (p.Cys1674Ser)
|
|
|
|
NM_000138.5(FBN1):c.5089A>T (p.Arg1697Ter)
|
rs2141266739
|
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
|
NM_000138.5(FBN1):c.5185T>C (p.Trp1729Arg)
|
rs1555396762
|
|
|
NM_000138.5(FBN1):c.51_52del (p.Leu17fs)
|
rs2140787769
|
|
|
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys)
|
rs1597543452
|
|
|
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)
|
rs2043241537
|
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
|
NM_000138.5(FBN1):c.53C>T (p.Ala18Val)
|
|
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
|
NM_000138.5(FBN1):c.5422+2T>C
|
rs1555396417
|
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
|
NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg)
|
rs1597537935
|
|
|
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
|
|
|
|
NM_000138.5(FBN1):c.5494C>A (p.Arg1832Ser)
|
rs1566900499
|
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
|
NM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs)
|
rs193922212
|
|
|
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr)
|
rs1555396185
|
|
|
NM_000138.5(FBN1):c.5540G>C (p.Cys1847Ser)
|
rs1555396185
|
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
|
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)
|
rs1555395989
|
|
|
NM_000138.5(FBN1):c.556T>C (p.Cys186Arg)
|
rs193922215
|
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
|
NM_000138.5(FBN1):c.5594G>C (p.Cys1865Ser)
|
rs2141252190
|
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
|
NM_000138.5(FBN1):c.5643A>C (p.Lys1881Asn)
|
rs1555395975
|
|
|
NM_000138.5(FBN1):c.5663del (p.Met1888fs)
|
rs1555395972
|
|
|
NM_000138.5(FBN1):c.5671+1del
|
rs2141252078
|
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
|
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)
|
rs193922218
|
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
|
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg)
|
rs1555395762
|
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
|
NM_000138.5(FBN1):c.5898_5912del (p.Asp1967_Cys1971del)
|
rs1555395744
|
|
|
NM_000138.5(FBN1):c.5901T>A (p.Asp1967Glu)
|
rs1566898401
|
|
|
NM_000138.5(FBN1):c.5925T>C (p.Asn1975=)
|
rs1555395667
|
|
|
NM_000138.5(FBN1):c.5943del (p.Arg1982fs)
|
rs1555395661
|
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
|
NM_000138.5(FBN1):c.603G>A (p.Gly201=)
|
|
|
|
NM_000138.5(FBN1):c.6085T>A (p.Cys2029Ser)
|
rs1555395477
|
|
|
NM_000138.5(FBN1):c.608T>C (p.Val203Ala)
|
rs2141358343
|
|
|
NM_000138.5(FBN1):c.6106T>C (p.Phe2036Leu)
|
rs2043116963
|
|
|
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=)
|
rs193922221
|
|
|
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
|
|
|
|
NM_000138.5(FBN1):c.6145A>C (p.Ser2049Arg)
|
rs1597529691
|
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
|
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe)
|
rs1555401687
|
|
|
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter)
|
rs1555395260
|
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
|
NM_000138.5(FBN1):c.6380-83del
|
rs193922222
|
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
|
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr)
|
rs1555395206
|
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
|
NM_000138.5(FBN1):c.669G>A (p.Met223Ile)
|
rs910928261
|
|
|
NM_000138.5(FBN1):c.66C>A (p.Ser22Arg)
|
rs1555407420
|
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
|
NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile)
|
rs780960909
|
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
|
NM_000138.5(FBN1):c.6809G>A (p.Gly2270Asp)
|
rs1566894274
|
|
|
NM_000138.5(FBN1):c.6824_6842del (p.Ile2275fs)
|
|
|
|
NM_000138.5(FBN1):c.6827G>A (p.Cys2276Tyr)
|
rs1566894262
|
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
|
NM_000138.5(FBN1):c.6854A>T (p.Asp2285Val)
|
rs1160071679
|
|
|
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)
|
rs1566894230
|
|
|
NM_000138.5(FBN1):c.6872-15A>G
|
|
|
|
NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs)
|
rs1566893738
|
|
|
NM_000138.5(FBN1):c.6997+10G>C
|
rs2042997079
|
|
|
NM_000138.5(FBN1):c.6997+19G>A
|
rs767445722
|
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
|
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)
|
rs794728262
|
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
|
NM_000138.5(FBN1):c.7070_7071dup (p.Val2358fs)
|
rs1555394571
|
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
|
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs)
|
rs397515846
|
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
|
NM_000138.5(FBN1):c.718C>A (p.Arg240Ser)
|
rs137854480
|
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
|
NM_000138.5(FBN1):c.7205-10T>G
|
|
|
|
NM_000138.5(FBN1):c.7205-1G>A
|
rs794728266
|
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
|
NM_000138.5(FBN1):c.7271_7273del (p.Ser2424del)
|
|
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
|
NM_000138.5(FBN1):c.7330+1G>A
|
rs1555394433
|
|
|
NM_000138.5(FBN1):c.7352dup (p.Pro2452fs)
|
|
|
|
NM_000138.5(FBN1):c.736+4A>G
|
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
|
NM_000138.5(FBN1):c.737-25CT[2]
|
rs72041020
|
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
|
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)
|
rs1566892735
|
|
|
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)
|
rs193922232
|
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
|
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs)
|
rs1057518012
|
|
|
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
|
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
|
NM_000138.5(FBN1):c.7542_7544dup (p.Gly2514_Phe2515insLeu)
|
|
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
|
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val)
|
rs193922234
|
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
|
NM_000138.5(FBN1):c.7699+18C>T
|
rs753819758
|
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
|
NM_000138.5(FBN1):c.7732C>T (p.Gln2578Ter)
|
rs765942432
|
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
|
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)
|
rs397515857
|
|
|
NM_000138.5(FBN1):c.7785_7806dup (p.Asn2603fs)
|
|
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
|
NM_000138.5(FBN1):c.7816G>A (p.Val2606Ile)
|
rs1172183618
|
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
|
NM_000138.5(FBN1):c.7820-3C>G
|
rs193922237
|
|
|
NM_000138.5(FBN1):c.7833C>A (p.Cys2611Ter)
|
|
|
|
NM_000138.5(FBN1):c.7834_7839del (p.Leu2612_Ser2613del)
|
rs2141215073
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
|
NM_000138.5(FBN1):c.7861T>G (p.Ser2621Ala)
|
rs2042899021
|
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
|
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser)
|
rs794728281
|
|
|
NM_000138.5(FBN1):c.8005_8019del (p.Gly2669_Gly2673del)
|
rs1555393829
|
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
|
NM_000138.5(FBN1):c.8051+14_8051+18del
|
|
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
|
NM_000138.5(FBN1):c.8078G>A (p.Gly2693Asp)
|
rs1555393664
|
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
|
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg)
|
rs1555393663
|
|
|
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=)
|
rs1566889147
|
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
|
NM_000138.5(FBN1):c.8226+5G>T
|
rs193922243
|
|
|
NM_000138.5(FBN1):c.8227-8C>G
|
rs2141210191
|
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
|
NM_000138.5(FBN1):c.82A>G (p.Asn28Asp)
|
rs1555407418
|
|
|
NM_000138.5(FBN1):c.8326C>G (p.Arg2776Gly)
|
rs137854466
|
|
|
NM_000138.5(FBN1):c.8359_8360del (p.Leu2787fs)
|
rs1597506811
|
|
|
NM_000138.5(FBN1):c.8359_8360dup (p.Leu2787_Thr2788insTer)
|
rs1597506811
|
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
|
NM_000138.5(FBN1):c.863-10del
|
rs748672558
|
|
|
NM_000138.5(FBN1):c.863-2A>G
|
|
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
|
NM_000138.5(FBN1):c.945T>A (p.Cys315Ter)
|
rs2043912235
|
|
|
NM_000138.5(FBN1):c.989-32GT[7]
|
rs147092263
|
|
|
NM_000140.5(FECH):c.1264C>T (p.Gln422Ter)
|
|
|
|
NM_000140.5(FECH):c.502C>T (p.Pro168Ser)
|
rs2122299647
|
|
|
NM_000141.5(FGFR2):c.181C>T (p.Arg61Cys)
|
|
|
|
NM_000141.5(FGFR2):c.202G>A (p.Ala68Thr)
|
|
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
|
NM_000142.5(FGFR3):c.1316G>C (p.Arg439Pro)
|
|
|
|
NM_000142.5(FGFR3):c.1411dup (p.Arg471fs)
|
|
|
|
NM_000142.5(FGFR3):c.1549A>G (p.Lys517Glu)
|
|
|
|
NM_000142.5(FGFR3):c.1630G>T (p.Ala544Ser)
|
|
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
|
NM_000142.5(FGFR3):c.2031-4G>A
|
|
|
|
NM_000142.5(FGFR3):c.2334del (p.Ser779fs)
|
|
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
|
NM_000142.5(FGFR3):c.931-712G>C
|
|
|
|
NM_000143.4(FH):c.1002T>G (p.Ser334Arg)
|
rs2147916185
|
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
|
|
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
|
|
|
|
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)
|
rs1573878145
|
|
|
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)
|
rs1553340686
|
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
|
NM_000143.4(FH):c.1495G>A (p.Glu499Lys)
|
rs750838853
|
|
|
NM_000143.4(FH):c.224del (p.Ser75fs)
|
rs1660242061
|
|
|
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)
|
rs863223995
|
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
|
NM_000143.4(FH):c.738+2T>C
|
rs1060500901
|
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
|
NM_000146.4(FTL):c.213C>A (p.Asn71Lys)
|
|
|
|
NM_000146.4(FTL):c.231T>G (p.Ala77=)
|
|
|
|
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)
|
rs80358195
|
|
|
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)
|
rs764863416
|
|
|
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)
|
rs1186488065
|
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
|
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
|
|
|
|
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter)
|
rs781230182
|
|
|
NM_000147.5(FUCA1):c.524+5G>A
|
|
|
|
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
|
|
|
|
NM_000147.5(FUCA1):c.810del (p.Cys271fs)
|
rs1557510081
|
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
|
NM_000147.5(FUCA1):c.989G>A (p.Ser330Asn)
|
rs950763723
|
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
|
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)
|
rs1567702819
|
|
|
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)
|
rs104894566
|
|
|
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
|
|
|
|
NM_000151.4(G6PC1):c.262del (p.Val88fs)
|
rs755612674
|
|
|
NM_000151.4(G6PC1):c.364G>A (p.Gly122Ser)
|
|
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
|
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)
|
rs1189630738
|
|
|
NM_000151.4(G6PC1):c.46A>G (p.Thr16Ala)
|
|
|
|
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
|
rs2056081522
|
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
|
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)
|
rs2056092654
|
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
|
NM_000152.5(GAA):c.-32-2A>G
|
rs1445232530
|
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
|
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys)
|
rs886042960
|
|
|
NM_000152.5(GAA):c.1087A>G (p.Met363Val)
|
rs2039148780
|
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
|
NM_000152.5(GAA):c.1195-19_2190-17del
|
|
|
|
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu)
|
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1461C>G (p.Phe487Leu)
|
|
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
|
NM_000152.5(GAA):c.148_859-11del
|
|
|
|
NM_000152.5(GAA):c.1551+1G>A
|
rs770780848
|
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
|
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe)
|
|
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
|
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
|
rs1294428728
|
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
|
NM_000152.5(GAA):c.1952G>T (p.Gly651Val)
|
rs939350425
|
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
|
NM_000152.5(GAA):c.1976T>C (p.Val659Ala)
|
|
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
|
NM_000152.5(GAA):c.2012T>A (p.Met671Lys)
|
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
|
NM_000152.5(GAA):c.2051C>A (p.Pro684Gln)
|
rs147327209
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
|
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
|
|
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
|
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)
|
rs1555601828
|
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
|
NM_000152.5(GAA):c.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
|
NM_000152.5(GAA):c.2432del (p.Leu811fs)
|
rs766560578
|
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
|
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
|
rs398123174
|
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
|
NM_000152.5(GAA):c.693G>T (p.Leu231=)
|
|
|
|
NM_000152.5(GAA):c.710C>A (p.Ala237Glu)
|
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
|
NM_000152.5(GAA):c.722_723del (p.Phe241fs)
|
rs2039116471
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.860C>T (p.Pro287Leu)
|
rs1289916206
|
|
|
NM_000152.5(GAA):c.923A>C (p.His308Pro)
|
rs2143849751
|
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
|
|
NM_000152.5(GAA):c.[752C>T;761C>T]
|
|
|
|
NM_000153.3(GALC):c.-66G>C
|
|
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
|
NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)
|
|
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
|
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
|
|
|
|
NM_000153.4(GALC):c.1158_1161+6del
|
rs759068540
|
|
|
NM_000153.4(GALC):c.1162-4T>A
|
rs774455523
|
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
|
NM_000153.4(GALC):c.1199C>T (p.Pro400Leu)
|
|
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
|
NM_000153.4(GALC):c.1834+1G>A
|
|
|
|
NM_000153.4(GALC):c.187_195+10dup
|
|
|
|
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)
|
rs749708827
|
|
|
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
|
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)
|
|
|
|
NM_000153.4(GALC):c.349A>T (p.Met117Leu)
|
rs145580093
|
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
|
NM_000153.4(GALC):c.621+5G>A
|
rs1555383306
|
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
|
NM_000153.4(GALC):c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro)
|
rs2140016243
|
|
|
NM_000153.4(GALC):c.691G>A (p.Glu231Lys)
|
rs542231350
|
|
|
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
|
|
|
|
NM_000153.4(GALC):c.824A>G (p.Asp275Gly)
|
|
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
|
NM_000153.4(GALC):c.955del (p.Tyr319fs)
|
rs786204454
|
|
|
NM_000153.4(GALC):c.973A>G (p.Met325Val)
|
rs772190761
|
|
|
NM_000154.1(GALK1):c.1108_1110delGAG
|
|
|
|
NM_000154.2(GALK1):c.505G>A (p.Val169Met)
|
rs2143602929
|
|
|
NM_000154.2(GALK1):c.686dup (p.His229fs)
|
|
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
|
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
|
|
|
|
NM_000155.3(GALT):c.-1004delT
|
rs201344398
|
|
|
NM_000155.3(GALT):c.-1004dupT
|
rs201344398
|
|
|
NM_000155.3(GALT):c.-1005_-1004dupTT
|
rs201344398
|
|
|
NM_000155.3(GALT):c.-631_-630delAG
|
rs149007102
|
|
|
NM_000155.3(GALT):c.-837delT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-837dupT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-838_-837dupTT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-839_-837delTTT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-839_-837dupTTT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-840_-837dupTTTT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-841_-837dupTTTTT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-842_-837dupTTTTTT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.-843_-837dupTTTTTTT
|
rs549043849
|
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
|
NM_000155.4(GALT):c.1022T>C (p.Met341Thr)
|
rs1248681332
|
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
|
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
|
rs1821203474
|
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
|
NM_000155.4(GALT):c.1060-71dup
|
rs56121779
|
|
|
NM_000155.4(GALT):c.1060-79_1060-71dup
|
rs56121779
|
|
|
NM_000155.4(GALT):c.1094A>G (p.His365Arg)
|
rs1821228599
|
|
|
NM_000155.4(GALT):c.140A>G (p.His47Arg)
|
rs2132341581
|
|
|
NM_000155.4(GALT):c.143G>T (p.Arg48Leu)
|
|
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
|
NM_000155.4(GALT):c.155C>G (p.Pro52Arg)
|
rs2132341621
|
|
|
NM_000155.4(GALT):c.172G>A (p.Glu58Lys)
|
rs1554709147
|
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
|
NM_000155.4(GALT):c.211C>G (p.Leu71Val)
|
rs143994870
|
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
|
NM_000155.4(GALT):c.275C>A (p.Thr92Asn)
|
rs1554709207
|
|
|
NM_000155.4(GALT):c.285T>G (p.Phe95Leu)
|
rs111033668
|
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
|
NM_000155.4(GALT):c.313G>A (p.Asp105Asn)
|
rs1564100971
|
|
|
NM_000155.4(GALT):c.329G>A (p.Gly110Glu)
|
rs1057523885
|
|
|
NM_000155.4(GALT):c.346C>A (p.Leu116Ile)
|
rs1554709252
|
|
|
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)
|
rs111033674
|
|
|
NM_000155.4(GALT):c.377+53_1059+87del
|
|
|
|
NM_000155.4(GALT):c.377+7A>G
|
rs376026879
|
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
|
NM_000155.4(GALT):c.502_504del (p.Val168del)
|
rs1219976432
|
|
|
NM_000155.4(GALT):c.508-17G>A
|
rs12000481
|
|
|
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)
|
rs111033718
|
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
|
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)
|
rs1554709366
|
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
|
NM_000155.4(GALT):c.687+1G>T
|
rs193922250
|
|
|
NM_000155.4(GALT):c.688-12_688-11del
|
rs777929860
|
|
|
NM_000155.4(GALT):c.715T>C (p.Trp239Arg)
|
rs1336294207
|
|
|
NM_000155.4(GALT):c.754C>A (p.Gln252Lys)
|
rs1564101859
|
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
|
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)
|
rs111033762
|
|
|
NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup)
|
rs1554709431
|
|
|
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)
|
rs111033764
|
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
|
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
|
|
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
|
NM_000155.4(GALT):c.820+18G>A
|
rs1564101965
|
|
|
NM_000155.4(GALT):c.82G>A (p.Asp28Asn)
|
rs111033636
|
|
|
NM_000155.4(GALT):c.833T>C (p.Ile278Thr)
|
rs111033778
|
|
|
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)
|
rs111033781
|
|
|
NM_000155.4(GALT):c.885C>G (p.Pro295=)
|
rs1554709446
|
|
|
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter)
|
rs1554709447
|
|
|
NM_000155.4(GALT):c.902A>G (p.His301Arg)
|
rs886042065
|
|
|
NM_000155.4(GALT):c.904+7C>A
|
rs1564102104
|
|
|
NM_000155.4(GALT):c.91C>A (p.His31Asn)
|
rs111033643
|
|
|
NM_000155.4(GALT):c.98G>A (p.Arg33His)
|
rs111033829
|
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
|
NM_000155.4(GALT):c.[413C>T;469G>A]
|
|
|
|
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
|
|
|
|
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup)
|
rs768895098
|
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
|
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)
|
rs1369786965
|
|
|
NM_000156.6(GAMT):c.392-2A>G
|
rs2082618808
|
|
|
NM_000156.6(GAMT):c.475del (p.Leu159fs)
|
|
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
|
NM_000156.6(GAMT):c.491del (p.Gly164fs)
|
rs749390953
|
|
|
NM_000156.6(GAMT):c.491dup (p.Val165fs)
|
rs749390953
|
|
|
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)
|
rs1600158346
|
|
|
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)
|
rs200444143
|
|
|
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)
|
|
|
|
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)
|
rs2082607477
|
|
|
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)
|
rs80338734
|
|
|
NM_000157.4(GBA1):c.-15A>G
|
|
|
|
NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer)
|
rs1553217314
|
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
|
NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)
|
|
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
|
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)
|
rs777383151
|
|
|
NM_000157.4(GBA1):c.1103G>A (p.Arg368His)
|
|
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
|
NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)
|
|
|
|
NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)
|
|
|
|
NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)
|
|
|
|
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)
|
rs398123528
|
|
|
NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)
|
rs754743440
|
|
|
NM_000157.4(GBA1):c.1259G>A (p.Trp420Ter)
|
rs1671711470
|
|
|
NM_000157.4(GBA1):c.1263C>A (p.Asn421Lys)
|
rs2148071759
|
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
|
NM_000157.4(GBA1):c.1275C>A (p.Asn425Lys)
|
rs1026993108
|
|
|
NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)
|
|
|
|
NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)
|
rs1557901325
|
|
|
NM_000157.4(GBA1):c.136A>G (p.Lys46Glu)
|
|
|
|
NM_000157.4(GBA1):c.1439_1445del (p.Lys480fs)
|
rs2148070579
|
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
|
NM_000157.4(GBA1):c.1505+2T>A
|
rs2148070287
|
|
|
NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter)
|
rs1671660634
|
|
|
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)
|
rs1671655923
|
|
|
NM_000157.4(GBA1):c.203del (p.Pro68fs)
|
rs1170895261
|
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
|
NM_000157.4(GBA1):c.232C>T (p.Arg78Cys)
|
|
|
|
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)
|
rs77829017
|
|
|
NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)
|
rs1671987417
|
|
|
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
|
|
|
|
NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)
|
rs1671974195
|
|
|
NM_000157.4(GBA1):c.350T>C (p.Val117Ala)
|
|
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
|
NM_000157.4(GBA1):c.385G>A (p.Ala129Thr)
|
|
|
|
NM_000157.4(GBA1):c.39del (p.Lys13fs)
|
|
|
|
NM_000157.4(GBA1):c.454+1G>A
|
rs539166948
|
|
|
NM_000157.4(GBA1):c.469A>T (p.Ile157Phe)
|
|
|
|
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
|
|
|
|
NM_000157.4(GBA1):c.485T>C (p.Met162Thr)
|
rs794727783
|
|
|
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)
|
rs398123530
|
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
|
NM_000157.4(GBA1):c.588G>T (p.Lys196Asn)
|
|
|
|
NM_000157.4(GBA1):c.589-86A>G
|
rs2974923
|
|
|
NM_000157.4(GBA1):c.630del (p.Val211fs)
|
rs1553217879
|
|
|
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)
|
rs1671872221
|
|
|
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)
|
rs867929413
|
|
|
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)
|
rs866075757
|
|
|
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)
|
rs786200979
|
|
|
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe)
|
rs1671865905
|
|
|
NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)
|
|
|
|
NM_000157.4(GBA1):c.847T>C (p.Tyr283His)
|
|
|
|
NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)
|
rs1553217626
|
|
|
NM_000157.4(GBA1):c.894C>A (p.Phe298Leu)
|
rs1671825414
|
|
|
NM_000157.4(GBA1):c.898del (p.Ala300fs)
|
rs2148075419
|
|
|
NM_000157.4(GBA1):c.914del (p.Pro305fs)
|
rs1366567865
|
|
|
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)
|
rs765633380
|
|
|
NM_000158.4(GBE1):c.1237G>C (p.Asp413His)
|
rs752711257
|
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
|
NM_000158.4(GBE1):c.1621A>T (p.Asn541Tyr)
|
|
|
|
NM_000158.4(GBE1):c.1804-2A>T
|
rs1224090803
|
|
|
NM_000158.4(GBE1):c.314-13_314-11del
|
|
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
|
NM_000159.4(GCDH):c.1000AAG[1] (p.Lys335del)
|
|
|
|
NM_000159.4(GCDH):c.1039C>T (p.Leu347Phe)
|
|
|
|
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)
|
rs398123190
|
|
|
NM_000159.4(GCDH):c.1173del (p.Asn392fs)
|
rs754002357
|
|
|
NM_000159.4(GCDH):c.1233del (p.Asn411fs)
|
rs2145955299
|
|
|
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)
|
rs933624223
|
|
|
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
|
|
|
|
NM_000159.4(GCDH):c.15C>A (p.Gly5=)
|
rs2145938210
|
|
|
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)
|
|
|
|
NM_000159.4(GCDH):c.219del (p.Tyr74fs)
|
rs1057516521
|
|
|
NM_000159.4(GCDH):c.242C>T (p.Pro81Leu)
|
|
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
|
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)
|
rs142967670
|
|
|
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp)
|
rs771602677
|
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
|
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)
|
rs566417795
|
|
|
NM_000159.4(GCDH):c.319G>A (p.Gly107Ser)
|
|
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
|
NM_000159.4(GCDH):c.380C>T (p.Ala127Val)
|
|
|
|
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)
|
rs746388510
|
|
|
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys)
|
rs747370741
|
|
|
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
|
|
|
|
NM_000159.4(GCDH):c.478C>T (p.Gln160Ter)
|
rs1970608600
|
|
|
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp)
|
rs1173575355
|
|
|
NM_000159.4(GCDH):c.531C>A (p.Phe177Leu)
|
|
|
|
NM_000159.4(GCDH):c.636-3_639del
|
rs1555750535
|
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
|
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)
|
rs1970675873
|
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
|
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)
|
rs367699815
|
|
|
NM_000159.4(GCDH):c.797T>C (p.Met266Thr)
|
rs771650894
|
|
|
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
|
|
|
|
NM_000161.3(GCH1):c.614T>A (p.Val205Glu)
|
rs1418922853
|
|
|
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet)
|
rs193922252
|
|
|
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs)
|
rs193922253
|
|
|
NM_000162.5(GCK):c.1003del (p.Val335fs)
|
rs193922254
|
|
|
NM_000162.5(GCK):c.1012G>A (p.Val338Met)
|
|
|
|
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly)
|
rs193922255
|
|
|
NM_000162.5(GCK):c.1019+16G>A
|
rs193922256
|
|
|
NM_000162.5(GCK):c.1019+1G>A
|
|
|
|
NM_000162.5(GCK):c.1019+1G>T
|
|
|
|
NM_000162.5(GCK):c.1019+5G>A
|
|
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
|
NM_000162.5(GCK):c.1020-1G>C
|
rs193922258
|
|
|
NM_000162.5(GCK):c.1030_1039del (p.Asp344fs)
|
|
|
|
NM_000162.5(GCK):c.1033C>G (p.Arg345Gly)
|
rs2096271919
|
|
|
NM_000162.5(GCK):c.103A>T (p.Arg35Ter)
|
rs193922259
|
|
|
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)
|
rs1583592156
|
|
|
NM_000162.5(GCK):c.107G>C (p.Arg36Pro)
|
rs193922261
|
|
|
NM_000162.5(GCK):c.108G>A (p.Arg36=)
|
rs754169218
|
|
|
NM_000162.5(GCK):c.1098C>T (p.Ile366=)
|
rs2128819347
|
|
|
NM_000162.5(GCK):c.109A>G (p.Met37Val)
|
|
|
|
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter)
|
rs193922262
|
|
|
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)
|
rs193922263
|
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
|
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu)
|
rs193922264
|
|
|
NM_000162.5(GCK):c.1133C>A (p.Ala378Asp)
|
|
|
|
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)
|
rs193922265
|
|
|
NM_000162.5(GCK):c.1139A>C (p.His380Pro)
|
rs2128819280
|
|
|
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)
|
rs1064794268
|
|
|
NM_000162.5(GCK):c.1142T>G (p.Met381Arg)
|
rs193922266
|
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
|
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg)
|
rs193922267
|
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
|
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu)
|
rs193921338
|
|
|
NM_000162.5(GCK):c.1160C>T (p.Ala387Val)
|
rs193921338
|
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
|
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn)
|
rs193921340
|
|
|
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr)
|
rs193921340
|
|
|
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser)
|
|
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
|
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)
|
rs193922269
|
|
|
NM_000162.5(GCK):c.117G>A (p.Lys39=)
|
rs193922270
|
|
|
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
|
|
|
|
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)
|
rs193922271
|
|
|
NM_000162.5(GCK):c.1222G>A (p.Val408Met)
|
rs1293307672
|
|
|
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
|
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr)
|
rs193922273
|
|
|
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
|
|
|
|
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)
|
rs193922274
|
|
|
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)
|
rs193922275
|
|
|
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)
|
rs193922277
|
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
|
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
|
|
|
|
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn)
|
rs193922278
|
|
|
NM_000162.5(GCK):c.1309A>C (p.Thr437Pro)
|
rs2096270595
|
|
|
NM_000162.5(GCK):c.130G>T (p.Gly44Cys)
|
|
|
|
NM_000162.5(GCK):c.131G>A (p.Gly44Asp)
|
rs193922279
|
|
|
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
|
rs1286804191
|
|
|
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)
|
rs1562711915
|
|
|
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp)
|
|
|
|
NM_000162.5(GCK):c.1332del (p.Ser445fs)
|
rs193922280
|
|
|
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)
|
rs193922281
|
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
|
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr)
|
rs193922282
|
|
|
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
|
|
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
|
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)
|
rs193922284
|
|
|
NM_000162.5(GCK):c.146C>A (p.Thr49Asn)
|
rs193922286
|
|
|
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
|
|
|
|
NM_000162.5(GCK):c.175C>T (p.Pro59Ser)
|
rs193922287
|
|
|
NM_000162.5(GCK):c.179C>T (p.Thr60Ile)
|
rs747783371
|
|
|
NM_000162.5(GCK):c.184G>A (p.Val62Met)
|
rs1064793998
|
|
|
NM_000162.5(GCK):c.208+9T>A
|
rs193922288
|
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
|
NM_000162.5(GCK):c.253A>T (p.Arg85Trp)
|
rs193922290
|
|
|
NM_000162.5(GCK):c.304A>T (p.Lys102Ter)
|
rs193922291
|
|
|
NM_000162.5(GCK):c.30C>T (p.Ala10=)
|
|
|
|
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp)
|
rs193922292
|
|
|
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys)
|
|
|
|
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
|
|
|
|
NM_000162.5(GCK):c.364-41dup
|
rs193922293
|
|
|
NM_000162.5(GCK):c.364-49dup
|
rs193922294
|
|
|
NM_000162.5(GCK):c.393del (p.Asp132fs)
|
rs193922295
|
|
|
NM_000162.5(GCK):c.397T>C (p.Phe133Leu)
|
rs2128822093
|
|
|
NM_000162.5(GCK):c.440G>A (p.Gly147Asp)
|
rs193922296
|
|
|
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr)
|
rs193922297
|
|
|
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)
|
rs193922297
|
|
|
NM_000162.5(GCK):c.45+11C>G
|
rs193922298
|
|
|
NM_000162.5(GCK):c.450C>T (p.Phe150=)
|
rs193922299
|
|
|
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
|
rs193922300
|
|
|
NM_000162.5(GCK):c.45G>A (p.Lys15=)
|
|
|
|
NM_000162.5(GCK):c.463A>G (p.Arg155Gly)
|
rs193922301
|
|
|
NM_000162.5(GCK):c.483G>A (p.Lys161=)
|
rs193922302
|
|
|
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)
|
rs2096278847
|
|
|
NM_000162.5(GCK):c.509G>T (p.Gly170Val)
|
rs193922303
|
|
|
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys)
|
|
|
|
NM_000162.5(GCK):c.523G>A (p.Gly175Arg)
|
rs587780344
|
|
|
NM_000162.5(GCK):c.527C>G (p.Ala176Gly)
|
rs193922304
|
|
|
NM_000162.5(GCK):c.532G>A (p.Gly178Arg)
|
rs193922305
|
|
|
NM_000162.5(GCK):c.533G>A (p.Gly178Glu)
|
rs886039380
|
|
|
NM_000162.5(GCK):c.53del (p.Gln18fs)
|
|
|
|
NM_000162.5(GCK):c.542T>C (p.Val181Ala)
|
rs193922306
|
|
|
NM_000162.5(GCK):c.551T>C (p.Leu184Pro)
|
rs2128821610
|
|
|
NM_000162.5(GCK):c.563C>T (p.Ala188Val)
|
rs193922307
|
|
|
NM_000162.5(GCK):c.565A>G (p.Ile189Val)
|
|
|
|
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
|
|
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
|
NM_000162.5(GCK):c.57C>G (p.Ile19Met)
|
rs193922308
|
|
|
NM_000162.5(GCK):c.587A>G (p.Glu196Gly)
|
rs193922309
|
|
|
NM_000162.5(GCK):c.604A>G (p.Met202Val)
|
rs193922310
|
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
|
NM_000162.5(GCK):c.615C>G (p.Asp205Glu)
|
rs193922312
|
|
|
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)
|
rs587780346
|
|
|
NM_000162.5(GCK):c.617C>T (p.Thr206Met)
|
rs1441649062
|
|
|
NM_000162.5(GCK):c.626C>T (p.Thr209Met)
|
rs1583599303
|
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
|
NM_000162.5(GCK):c.630G>T (p.Met210Ile)
|
rs193922313
|
|
|
NM_000162.5(GCK):c.635_637del (p.Ser212del)
|
rs193922314
|
|
|
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)
|
rs144723656
|
|
|
NM_000162.5(GCK):c.658T>C (p.Cys220Arg)
|
rs193922315
|
|
|
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr)
|
rs193922316
|
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
|
NM_000162.5(GCK):c.661G>A (p.Glu221Lys)
|
rs193922317
|
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
|
NM_000162.5(GCK):c.677T>C (p.Val226Ala)
|
rs193922319
|
|
|
NM_000162.5(GCK):c.679+1del
|
rs193922320
|
|
|
NM_000162.5(GCK):c.680-15C>A
|
rs369345791
|
|
|
NM_000162.5(GCK):c.680-2A>G
|
rs1562715657
|
|
|
NM_000162.5(GCK):c.680-94dup
|
rs193922321
|
|
|
NM_000162.5(GCK):c.686del (p.Gly229fs)
|
rs1554335164
|
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
|
NM_000162.5(GCK):c.691A>G (p.Asn231Asp)
|
rs2128820674
|
|
|
NM_000162.5(GCK):c.694G>A (p.Ala232Thr)
|
rs193922322
|
|
|
NM_000162.5(GCK):c.704T>C (p.Met235Thr)
|
rs193922323
|
|
|
NM_000162.5(GCK):c.723G>A (p.Val241=)
|
rs193922324
|
|
|
NM_000162.5(GCK):c.736G>A (p.Gly246Arg)
|
rs2096275721
|
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
|
NM_000162.5(GCK):c.74T>G (p.Leu25Arg)
|
rs193922325
|
|
|
NM_000162.5(GCK):c.752T>C (p.Met251Thr)
|
rs193922326
|
|
|
NM_000162.5(GCK):c.758T>C (p.Val253Ala)
|
rs193921400
|
|
|
NM_000162.5(GCK):c.758T>G (p.Val253Gly)
|
rs193921400
|
|
|
NM_000162.5(GCK):c.760A>C (p.Asn254His)
|
rs193922327
|
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
|
NM_000162.5(GCK):c.768G>C (p.Glu256Asp)
|
rs193922328
|
|
|
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)
|
rs193922329
|
|
|
NM_000162.5(GCK):c.770G>A (p.Trp257Ter)
|
rs1562715426
|
|
|
NM_000162.5(GCK):c.771G>A (p.Trp257Ter)
|
rs2128820597
|
|
|
NM_000162.5(GCK):c.775G>A (p.Ala259Thr)
|
rs1375656631
|
|
|
NM_000162.5(GCK):c.779T>C (p.Phe260Ser)
|
rs193922330
|
|
|
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)
|
rs2096275478
|
|
|
NM_000162.5(GCK):c.810_814del (p.Leu271fs)
|
|
|
|
NM_000162.5(GCK):c.812T>C (p.Leu271Pro)
|
rs193922332
|
|
|
NM_000162.5(GCK):c.823C>G (p.Arg275Gly)
|
|
|
|
NM_000162.5(GCK):c.833A>T (p.Asp278Val)
|
rs193922333
|
|
|
NM_000162.5(GCK):c.863+1G>A
|
rs1376796469
|
|
|
NM_000162.5(GCK):c.863+3A>G
|
rs193922334
|
|
|
NM_000162.5(GCK):c.864G>C (p.Leu288=)
|
rs2128820056
|
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
|
NM_000162.5(GCK):c.884G>A (p.Gly295Asp)
|
rs2096273902
|
|
|
NM_000162.5(GCK):c.907C>T (p.Arg303Trp)
|
rs193922336
|
|
|
NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
|
rs193922337
|
|
|
NM_000162.5(GCK):c.924del (p.Arg308fs)
|
|
|
|
NM_000162.5(GCK):c.944T>A (p.Leu315His)
|
rs193922338
|
|
|
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr)
|
rs193922339
|
|
|
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)
|
rs193922340
|
|
|
NM_000162.5(GCK):c.971T>C (p.Leu324Pro)
|
rs193922341
|
|
|
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
|
|
|
|
NM_000163.5(GHR):c.102G>A (p.Trp34Ter)
|
rs121909370
|
|
|
NM_000163.5(GHR):c.726G>A (p.Glu242=)
|
|
|
|
NM_000163.5(GHR):c.910_911delinsA (p.Pro304fs)
|
|
|
|
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter)
|
|
|
|
NM_000165.5(GJA1):c.887CTT[1] (p.Ser297del)
|
rs976659652
|
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099
|
|
|
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)
|
rs104894814
|
|
|
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
|
rs760150310
|
|
|
NM_000168.6(GLI3):c.1659C>T (p.Cys553=)
|
|
|
|
NM_000169.2(GLA):c.-79G>A
|
rs1928609406
|
|
|
NM_000169.3(GLA):c.1000-10G>A
|
rs869312203
|
|
|
NM_000169.3(GLA):c.1000-14dup
|
|
|
|
NM_000169.3(GLA):c.101A>G (p.Asn34Ser)
|
rs104894835
|
|
|
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)
|
rs104894842
|
|
|
NM_000169.3(GLA):c.1021G>A (p.Glu341Lys)
|
rs869312214
|
|
|
NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)
|
rs869312214
|
|
|
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)
|
rs104894843
|
|
|
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)
|
rs398123198
|
|
|
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)
|
rs1928137126
|
|
|
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)
|
rs869312218
|
|
|
NM_000169.3(GLA):c.1055_1056del (p.Ala352fs)
|
rs1555984840
|
|
|
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)
|
rs886044829
|
|
|
NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del)
|
rs1569302697
|
|
|
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)
|
rs797044774
|
|
|
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)
|
rs730880453
|
|
|
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)
|
rs782598150
|
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
|
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys)
|
rs1928127475
|
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
|
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)
|
rs869312227
|
|
|
NM_000169.3(GLA):c.1125_1128dup (p.Ala377fs)
|
rs1928125824
|
|
|
NM_000169.3(GLA):c.1139del (p.Pro380fs)
|
rs2147470791
|
|
|
NM_000169.3(GLA):c.1168G>A (p.Val390Met)
|
|
|
|
NM_000169.3(GLA):c.118C>T (p.Pro40Ser)
|
rs104894831
|
|
|
NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)
|
rs104894844
|
|
|
NM_000169.3(GLA):c.119C>T (p.Pro40Leu)
|
rs398123199
|
|
|
NM_000169.3(GLA):c.1201dup (p.Ser401fs)
|
rs1928120091
|
|
|
NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)
|
rs878853698
|
|
|
NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)
|
rs730880442
|
|
|
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)
|
rs797044777
|
|
|
NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)
|
rs112341092
|
|
|
NM_000169.3(GLA):c.1244T>G (p.Leu415Arg)
|
rs112341092
|
|
|
NM_000169.3(GLA):c.1285del (p.Leu429fs)
|
rs1555984717
|
|
|
NM_000169.3(GLA):c.128G>T (p.Gly43Val)
|
rs1928583820
|
|
|
NM_000169.3(GLA):c.128del (p.Gly43fs)
|
rs797044500
|
|
|
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)
|
rs398123202
|
|
|
NM_000169.3(GLA):c.136C>T (p.His46Tyr)
|
rs1928582757
|
|
|
NM_000169.3(GLA):c.138C>G (p.His46Gln)
|
rs869312253
|
|
|
NM_000169.3(GLA):c.151A>G (p.Met51Val)
|
|
|
|
NM_000169.3(GLA):c.153G>A (p.Met51Ile)
|
rs869312255
|
|
|
NM_000169.3(GLA):c.153G>T (p.Met51Ile)
|
rs869312255
|
|
|
NM_000169.3(GLA):c.154T>G (p.Cys52Gly)
|
rs1057521047
|
|
|
NM_000169.3(GLA):c.154dup (p.Cys52fs)
|
|
|
|
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)
|
rs1569306036
|
|
|
NM_000169.3(GLA):c.167G>A (p.Cys56Tyr)
|
rs869312258
|
|
|
NM_000169.3(GLA):c.167G>T (p.Cys56Phe)
|
rs869312258
|
|
|
NM_000169.3(GLA):c.169C>T (p.Gln57Ter)
|
rs869312259
|
|
|
NM_000169.3(GLA):c.172del (p.Glu58fs)
|
rs869312261
|
|
|
NM_000169.3(GLA):c.187T>C (p.Cys63Arg)
|
rs1928578294
|
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
|
NM_000169.3(GLA):c.242G>C (p.Trp81Ser)
|
rs398123208
|
|
|
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)
|
rs1555986305
|
|
|
NM_000169.3(GLA):c.266T>G (p.Leu89Arg)
|
rs1569304886
|
|
|
NM_000169.3(GLA):c.26del (p.His9fs)
|
rs1555987215
|
|
|
NM_000169.3(GLA):c.273_276dup (p.Asp93Ter)
|
rs1928406808
|
|
|
NM_000169.3(GLA):c.274G>C (p.Asp92His)
|
rs886041315
|
|
|
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)
|
rs886041315
|
|
|
NM_000169.3(GLA):c.275A>G (p.Asp92Gly)
|
rs1928406948
|
|
|
NM_000169.3(GLA):c.281G>T (p.Cys94Phe)
|
rs113173389
|
|
|
NM_000169.3(GLA):c.295C>T (p.Gln99Ter)
|
rs868937910
|
|
|
NM_000169.3(GLA):c.2T>C (p.Met1Thr)
|
rs1555987232
|
|
|
NM_000169.3(GLA):c.307G>T (p.Glu103Ter)
|
rs1569304851
|
|
|
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)
|
rs104894834
|
|
|
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)
|
rs869312142
|
|
|
NM_000169.3(GLA):c.350T>G (p.Ile117Ser)
|
rs12392549
|
|
|
NM_000169.3(GLA):c.355C>T (p.Gln119Ter)
|
rs2147480438
|
|
|
NM_000169.3(GLA):c.369+1G>A
|
rs797044669
|
|
|
NM_000169.3(GLA):c.369+5G>T
|
rs398123209
|
|
|
NM_000169.3(GLA):c.370-2A>C
|
rs730880444
|
|
|
NM_000169.3(GLA):c.370-532_1278del
|
|
|
|
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
|
|
|
|
NM_000169.3(GLA):c.379A>T (p.Lys127Ter)
|
rs2147477845
|
|
|
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)
|
rs727503072
|
|
|
NM_000169.3(GLA):c.3G>A (p.Met1Ile)
|
rs2147487910
|
|
|
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)
|
rs727503951
|
|
|
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)
|
rs1183869568
|
|
|
NM_000169.3(GLA):c.404C>T (p.Ala135Val)
|
rs1569304221
|
|
|
NM_000169.3(GLA):c.406G>T (p.Asp136Tyr)
|
rs1928326804
|
|
|
NM_000169.3(GLA):c.409G>T (p.Val137Phe)
|
rs1928326653
|
|
|
NM_000169.3(GLA):c.412G>A (p.Gly138Arg)
|
rs1928326524
|
|
|
NM_000169.3(GLA):c.413G>A (p.Gly138Glu)
|
rs1928326107
|
|
|
NM_000169.3(GLA):c.41T>C (p.Leu14Pro)
|
rs730880455
|
|
|
NM_000169.3(GLA):c.422C>T (p.Thr141Ile)
|
rs886044843
|
|
|
NM_000169.3(GLA):c.426C>A (p.Cys142Ter)
|
|
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
|
NM_000169.3(GLA):c.439G>A (p.Gly147Arg)
|
rs1555985830
|
|
|
NM_000169.3(GLA):c.444T>G (p.Ser148Arg)
|
rs1569304190
|
|
|
NM_000169.3(GLA):c.484del (p.Trp162fs)
|
rs1928321045
|
|
|
NM_000169.3(GLA):c.485G>A (p.Trp162Ter)
|
rs727504350
|
|
|
NM_000169.3(GLA):c.4C>T (p.Gln2Ter)
|
rs869312313
|
|
|
NM_000169.3(GLA):c.500T>C (p.Leu167Pro)
|
rs1928319806
|
|
|
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)
|
rs869312324
|
|
|
NM_000169.3(GLA):c.550T>G (p.Tyr184Asp)
|
rs1928287649
|
|
|
NM_000169.3(GLA):c.559_560del (p.Met187fs)
|
rs1928287177
|
|
|
NM_000169.3(GLA):c.56T>A (p.Leu19Gln)
|
rs1928592578
|
|
|
NM_000169.3(GLA):c.56T>C (p.Leu19Pro)
|
rs1928592578
|
|
|
NM_000169.3(GLA):c.591C>T (p.Ser197=)
|
rs898606246
|
|
|
NM_000169.3(GLA):c.592_603del (p.Ile198_Ser201del)
|
rs1928284093
|
|
|
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)
|
rs1555987175
|
|
|
NM_000169.3(GLA):c.604T>C (p.Cys202Arg)
|
rs1569303843
|
|
|
NM_000169.3(GLA):c.614C>T (p.Pro205Leu)
|
rs886044879
|
|
|
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs)
|
rs1928279286
|
|
|
NM_000169.3(GLA):c.639+852_639+855del
|
rs782584102
|
|
|
NM_000169.3(GLA):c.639G>A (p.Lys213=)
|
rs1928277930
|
|
|
NM_000169.3(GLA):c.640-1G>A
|
rs398123216
|
|
|
NM_000169.3(GLA):c.640-336T>C
|
|
|
|
NM_000169.3(GLA):c.646dup (p.Tyr216fs)
|
rs1928199153
|
|
|
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)
|
rs727503949
|
|
|
NM_000169.3(GLA):c.661C>T (p.Gln221Ter)
|
rs797044747
|
|
|
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)
|
rs869312382
|
|
|
NM_000169.3(GLA):c.671A>G (p.Asn224Ser)
|
rs869312383
|
|
|
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)
|
rs104894840
|
|
|
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)
|
rs1928195468
|
|
|
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)
|
rs730880450
|
|
|
NM_000169.3(GLA):c.718_719del (p.Lys240fs)
|
rs869312389
|
|
|
NM_000169.3(GLA):c.723dup (p.Ile242fs)
|
rs869312391
|
|
|
NM_000169.3(GLA):c.72G>C (p.Trp24Cys)
|
rs869312392
|
|
|
NM_000169.3(GLA):c.734G>A (p.Trp245Ter)
|
rs398123220
|
|
|
NM_000169.3(GLA):c.748C>T (p.Gln250Ter)
|
rs398123221
|
|
|
NM_000169.3(GLA):c.751G>T (p.Glu251Ter)
|
rs1928189534
|
|
|
NM_000169.3(GLA):c.770C>T (p.Ala257Val)
|
rs1569303218
|
|
|
NM_000169.3(GLA):c.782G>A (p.Gly261Asp)
|
rs869312401
|
|
|
NM_000169.3(GLA):c.782G>T (p.Gly261Val)
|
rs869312401
|
|
|
NM_000169.3(GLA):c.790G>T (p.Asp264Tyr)
|
rs190347120
|
|
|
NM_000169.3(GLA):c.791A>T (p.Asp264Val)
|
rs28935486
|
|
|
NM_000169.3(GLA):c.797A>T (p.Asp266Val)
|
rs28935487
|
|
|
NM_000169.3(GLA):c.800T>G (p.Met267Arg)
|
rs869312408
|
|
|
NM_000169.3(GLA):c.801+1G>C
|
rs868923658
|
|
|
NM_000169.3(GLA):c.801+3A>G
|
rs797044748
|
|
|
NM_000169.3(GLA):c.802-2A>T
|
rs797044499
|
|
|
NM_000169.3(GLA):c.805G>A (p.Val269Met)
|
rs869312427
|
|
|
NM_000169.3(GLA):c.824_825del (p.Leu275fs)
|
rs1928173731
|
|
|
NM_000169.3(GLA):c.830G>A (p.Trp277Ter)
|
rs886044766
|
|
|
NM_000169.3(GLA):c.833dup (p.Asn278fs)
|
rs1928172876
|
|
|
NM_000169.3(GLA):c.848dup (p.Met284fs)
|
rs1555985002
|
|
|
NM_000169.3(GLA):c.851T>C (p.Met284Thr)
|
rs1928171557
|
|
|
NM_000169.3(GLA):c.85dup (p.Ala29fs)
|
rs1569306181
|
|
|
NM_000169.3(GLA):c.863del (p.Ala288fs)
|
rs1569303030
|
|
|
NM_000169.3(GLA):c.874G>C (p.Ala292Pro)
|
rs111812846
|
|
|
NM_000169.3(GLA):c.884T>G (p.Phe295Cys)
|
rs1928168711
|
|
|
NM_000169.3(GLA):c.887T>A (p.Met296Lys)
|
rs869312442
|
|
|
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr)
|
rs28935489
|
|
|
NM_000169.3(GLA):c.894T>A (p.Asn298Lys)
|
rs869312444
|
|
|
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)
|
rs398123223
|
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
|
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)
|
rs398123224
|
|
|
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
|
rs104894828
|
|
|
NM_000169.3(GLA):c.902dup (p.His302fs)
|
rs1928166458
|
|
|
NM_000169.3(GLA):c.913_945dup (p.Pro305_Asp315dup)
|
rs2147471995
|
|
|
NM_000169.3(GLA):c.92C>T (p.Ala31Val)
|
rs869312448
|
|
|
NM_000169.3(GLA):c.958A>C (p.Asn320His)
|
rs1555984950
|
|
|
NM_000169.3(GLA):c.959_962del (p.Asn320fs)
|
rs398123225
|
|
|
NM_000169.3(GLA):c.961C>G (p.Gln321Glu)
|
rs730880439
|
|
|
NM_000169.3(GLA):c.962A>G (p.Gln321Arg)
|
rs1928161905
|
|
|
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)
|
rs398123226
|
|
|
NM_000169.3(GLA):c.969del (p.Leu324fs)
|
rs2147471863
|
|
|
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)
|
rs104894832
|
|
|
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)
|
|
|
|
NM_000169.3(GLA):c.988del (p.Gln330fs)
|
rs1928157897
|
|
|
NM_000169.3(GLA):c.994dup (p.Arg332fs)
|
rs1569302887
|
|
|
NM_000169.3(GLA):c.999+2T>C
|
rs886044860
|
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
|
NM_000170.3(GLDC):c.1580+2T>G
|
rs1554646710
|
|
|
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp)
|
rs2129831435
|
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
|
NM_000170.3(GLDC):c.2310C>A (p.Ile770=)
|
rs765661419
|
|
|
NM_000170.3(GLDC):c.2315+6T>C
|
rs1817582202
|
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
|
NM_000170.3(GLDC):c.256-2A>G
|
|
|
|
NM_000170.3(GLDC):c.2606_2607delinsTA (p.Pro869Leu)
|
|
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
|
NM_000170.3(GLDC):c.2969A>C (p.Asp990Ala)
|
|
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
|
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)
|
rs141014950
|
|
|
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
|
|
|
|
NM_000171.4(GLRA1):c.477-13C>T
|
|
|
|
NM_000173.7(GP1BA):c.1202C>T (p.Thr401Ile)
|
|
|
|
NM_000173.7(GP1BA):c.1253C>G (p.Ala418Gly)
|
|
|
|
NM_000173.7(GP1BA):c.1406C>T (p.Thr469Ile)
|
|
|
|
NM_000173.7(GP1BA):c.1432T>G (p.Phe478Val)
|
|
|
|
NM_000173.7(GP1BA):c.1683G>T (p.Gln561His)
|
|
|
|
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
|
rs1597638398
|
|
|
NM_000173.7(GP1BA):c.1774C>T (p.Arg592Trp)
|
|
|
|
NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg)
|
rs781541857
|
|
|
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val)
|
rs121908065
|
|
|
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg)
|
rs1394634674
|
|
|
NM_000173.7(GP1BA):c.715A>G (p.Asn239Asp)
|
|
|
|
NM_000174.5(GP9):c.124G>A (p.Gly42Arg)
|
|
|
|
NM_000174.5(GP9):c.241G>A (p.Asp81Asn)
|
|
|
|
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys)
|
rs1946583076
|
|
|
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
|
rs28933378
|
|
|
NM_000174.5(GP9):c.8_11dup (p.Trp4fs)
|
|
|
|
NM_000175.5(GPI):c.1269+1G>A
|
|
|
|
NM_000178.3(GSS):c.1113_1132del20
|
rs2147120336
|
|
|
NM_000178.4(GSS):c.-9+5G>A
|
rs1555889738
|
|
|
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del)
|
rs770455024
|
|
|
NM_000178.4(GSS):c.1192dup (p.Met398fs)
|
|
|
|
NM_000178.4(GSS):c.1407C>A (p.Asp469Glu)
|
rs1419704426
|
|
|
NM_000178.4(GSS):c.4del (p.Ala2fs)
|
rs752560204
|
|
|
NM_000178.4(GSS):c.656A>C (p.Asp219Ala)
|
|
|
|
NM_000178.4(GSS):c.800G>A (p.Arg267Gln)
|
|
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
|
NM_000179.3(MSH6):c.-17C>G
|
rs370816858
|
|
|
NM_000179.3(MSH6):c.-9G>A
|
rs1558644641
|
|
|
NM_000179.3(MSH6):c.1001A>C (p.Lys334Thr)
|
rs1558660066
|
|
|
NM_000179.3(MSH6):c.1006A>G (p.Thr336Ala)
|
rs1572721235
|
|
|
NM_000179.3(MSH6):c.1035T>C (p.Asn345=)
|
rs765166082
|
|
|
NM_000179.3(MSH6):c.104C>T (p.Ala35Val)
|
rs776547943
|
|
|
NM_000179.3(MSH6):c.1076G>A (p.Ser359Asn)
|
rs1278591662
|
|
|
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg)
|
rs752628520
|
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
|
NM_000179.3(MSH6):c.113C>T (p.Pro38Leu)
|
rs1553408211
|
|
|
NM_000179.3(MSH6):c.1143G>A (p.Glu381=)
|
rs1553412538
|
|
|
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)
|
rs751838296
|
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
|
NM_000179.3(MSH6):c.1170T>A (p.Asp390Glu)
|
rs55882234
|
|
|
NM_000179.3(MSH6):c.1175A>T (p.Asp392Val)
|
rs1064794625
|
|
|
NM_000179.3(MSH6):c.1178C>T (p.Ala393Val)
|
rs764110569
|
|
|
NM_000179.3(MSH6):c.117G>A (p.Gly39=)
|
rs756673077
|
|
|
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)
|
rs754231971
|
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
|
NM_000179.3(MSH6):c.1191T>C (p.Tyr397=)
|
rs786201269
|
|
|
NM_000179.3(MSH6):c.1201G>A (p.Asp401Asn)
|
rs1669308138
|
|
|
NM_000179.3(MSH6):c.1220C>T (p.Thr407Ile)
|
rs1114167754
|
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
|
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
|
|
|
|
NM_000179.3(MSH6):c.1267C>G (p.Leu423Val)
|
rs587781657
|
|
|
NM_000179.3(MSH6):c.1287G>A (p.Val429=)
|
rs576548582
|
|
|
NM_000179.3(MSH6):c.1290G>A (p.Gly430=)
|
rs1558661242
|
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
|
NM_000179.3(MSH6):c.1347G>A (p.Leu449=)
|
rs786201760
|
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
|
NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)
|
rs1669323917
|
|
|
NM_000179.3(MSH6):c.1413T>C (p.Asp471=)
|
rs772123097
|
|
|
NM_000179.3(MSH6):c.1512del (p.Lys504fs)
|
rs1572723270
|
|
|
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)
|
rs1558661932
|
|
|
NM_000179.3(MSH6):c.1524G>C (p.Val508=)
|
rs878853705
|
|
|
NM_000179.3(MSH6):c.1554C>T (p.Thr518=)
|
rs786201471
|
|
|
NM_000179.3(MSH6):c.1561A>C (p.Thr521Pro)
|
rs587779916
|
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
|
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)
|
rs587779215
|
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
|
NM_000179.3(MSH6):c.1593C>A (p.Pro531=)
|
rs1259890299
|
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
|
NM_000179.3(MSH6):c.1631A>T (p.Glu544Val)
|
rs1669354962
|
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
|
NM_000179.3(MSH6):c.1658C>G (p.Thr553Ser)
|
rs1553413038
|
|
|
NM_000179.3(MSH6):c.1698A>G (p.Gly566=)
|
rs764818222
|
|
|
NM_000179.3(MSH6):c.1700A>G (p.Lys567Arg)
|
rs1558662651
|
|
|
NM_000179.3(MSH6):c.1700dup (p.Phe568fs)
|
rs1553413074
|
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
|
NM_000179.3(MSH6):c.1713T>G (p.Gly571=)
|
rs781019496
|
|
|
NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly)
|
rs542838372
|
|
|
NM_000179.3(MSH6):c.173G>A (p.Arg58Lys)
|
rs1064795187
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
|
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr)
|
rs761033647
|
|
|
NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)
|
rs1558662873
|
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
|
NM_000179.3(MSH6):c.1774G>A (p.Val592Ile)
|
rs1558662912
|
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
|
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)
|
rs730881816
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
|
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)
|
rs730881793
|
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
|
NM_000179.3(MSH6):c.186_187inv (p.Ser63Ala)
|
|
|
|
NM_000179.3(MSH6):c.1871G>T (p.Gly624Val)
|
rs763606858
|
|
|
NM_000179.3(MSH6):c.1876C>G (p.Gln626Glu)
|
rs1553413253
|
|
|
NM_000179.3(MSH6):c.1902G>A (p.Leu634=)
|
rs1572724876
|
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
|
NM_000179.3(MSH6):c.1914T>C (p.Leu638=)
|
rs766310490
|
|
|
NM_000179.3(MSH6):c.1933del (p.Glu645fs)
|
rs1558663559
|
|
|
NM_000179.3(MSH6):c.1936A>G (p.Lys646Glu)
|
rs2104377347
|
|
|
NM_000179.3(MSH6):c.1938G>A (p.Lys646=)
|
rs758631207
|
|
|
NM_000179.3(MSH6):c.1945G>T (p.Asp649Tyr)
|
rs1064793188
|
|
|
NM_000179.3(MSH6):c.1967C>T (p.Pro656Leu)
|
rs1669401102
|
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
|
NM_000179.3(MSH6):c.1991_1992del (p.Thr663_Ser664insTer)
|
rs2104380945
|
|
|
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)
|
rs1333555322
|
|
|
NM_000179.3(MSH6):c.19C>A (p.Leu7Met)
|
rs1064795094
|
|
|
NM_000179.3(MSH6):c.19C>G (p.Leu7Val)
|
rs1064795094
|
|
|
NM_000179.3(MSH6):c.2004C>T (p.Ser668=)
|
rs766113887
|
|
|
NM_000179.3(MSH6):c.2018C>T (p.Pro673Leu)
|
rs864622085
|
|
|
NM_000179.3(MSH6):c.2019A>G (p.Pro673=)
|
rs863224327
|
|
|
NM_000179.3(MSH6):c.2053G>C (p.Gly685Arg)
|
rs1553413427
|
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
|
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr)
|
rs1064793189
|
|
|
NM_000179.3(MSH6):c.2112T>C (p.Ala704=)
|
rs1553413481
|
|
|
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter)
|
rs1558664335
|
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
|
NM_000179.3(MSH6):c.2180C>A (p.Thr727Asn)
|
rs767861096
|
|
|
NM_000179.3(MSH6):c.2181C>G (p.Thr727=)
|
rs876659171
|
|
|
NM_000179.3(MSH6):c.2187C>A (p.Ala729=)
|
rs375610656
|
|
|
NM_000179.3(MSH6):c.2193A>G (p.Gln731=)
|
rs1055190211
|
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
|
NM_000179.3(MSH6):c.2240T>G (p.Leu747Arg)
|
rs876660234
|
|
|
NM_000179.3(MSH6):c.2241G>T (p.Leu747=)
|
rs377722465
|
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
|
NM_000179.3(MSH6):c.2261C>A (p.Thr754Asn)
|
rs1669440639
|
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
|
NM_000179.3(MSH6):c.2328A>T (p.Gln776His)
|
rs1463214972
|
|
|
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)
|
rs1553413710
|
|
|
NM_000179.3(MSH6):c.2343A>C (p.Pro781=)
|
rs965368508
|
|
|
NM_000179.3(MSH6):c.2356T>A (p.Tyr786Asn)
|
rs773193199
|
|
|
NM_000179.3(MSH6):c.2372G>A (p.Arg791His)
|
rs755587950
|
|
|
NM_000179.3(MSH6):c.2403G>T (p.Val801=)
|
rs1572727035
|
|
|
NM_000179.3(MSH6):c.2415C>T (p.Ile805=)
|
rs1219649543
|
|
|
NM_000179.3(MSH6):c.2415_2418delinsTTCT (p.Ile805_Ser806=)
|
rs1669459551
|
|
|
NM_000179.3(MSH6):c.2419del (p.Glu807fs)
|
rs1669460814
|
|
|
NM_000179.3(MSH6):c.2437_2440delinsTT (p.Lys813fs)
|
|
|
|
NM_000179.3(MSH6):c.247G>A (p.Ala83Thr)
|
rs755964436
|
|
|
NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)
|
rs876661197
|
|
|
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)
|
rs63751321
|
|
|
NM_000179.3(MSH6):c.2534A>G (p.Tyr845Cys)
|
rs1064794190
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
|
NM_000179.3(MSH6):c.2541A>T (p.Glu847Asp)
|
rs1553413887
|
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
|
NM_000179.3(MSH6):c.255C>G (p.Pro85=)
|
rs587779242
|
|
|
NM_000179.3(MSH6):c.2561_2562delinsTT (p.Lys854Ile)
|
rs587780673
|
|
|
NM_000179.3(MSH6):c.2566_2572del (p.Ile856fs)
|
rs1669481204
|
|
|
NM_000179.3(MSH6):c.260+11G>T
|
rs550120121
|
|
|
NM_000179.3(MSH6):c.260+5C>T
|
rs1440012800
|
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
|
NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)
|
rs2020912
|
|
|
NM_000179.3(MSH6):c.2646T>C (p.Phe882=)
|
rs1190330045
|
|
|
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)
|
rs786202628
|
|
|
NM_000179.3(MSH6):c.267C>T (p.Asp89=)
|
rs762818044
|
|
|
NM_000179.3(MSH6):c.2682G>A (p.Gln894=)
|
rs756239543
|
|
|
NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs)
|
rs1669498074
|
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
|
NM_000179.3(MSH6):c.2725T>C (p.Leu909=)
|
rs876659785
|
|
|
NM_000179.3(MSH6):c.2744C>G (p.Ala915Gly)
|
rs766427609
|
|
|
NM_000179.3(MSH6):c.2745C>G (p.Ala915=)
|
rs876658904
|
|
|
NM_000179.3(MSH6):c.2753A>G (p.His918Arg)
|
rs754948438
|
|
|
NM_000179.3(MSH6):c.275_276inv (p.Pro92Leu)
|
|
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
|
NM_000179.3(MSH6):c.2787C>G (p.Pro929=)
|
rs768005323
|
|
|
NM_000179.3(MSH6):c.2796C>T (p.Gly932=)
|
rs774105284
|
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
|
NM_000179.3(MSH6):c.2850C>G (p.Ser950Arg)
|
rs571394629
|
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
|
NM_000179.3(MSH6):c.2875C>A (p.Arg959Ser)
|
rs751973865
|
|
|
NM_000179.3(MSH6):c.2919T>C (p.Gly973=)
|
rs1057522150
|
|
|
NM_000179.3(MSH6):c.2927del (p.Arg976fs)
|
|
|
|
NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)
|
rs2104431856
|
|
|
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala)
|
rs1553414327
|
|
|
NM_000179.3(MSH6):c.2958C>T (p.Thr986=)
|
rs757866392
|
|
|
NM_000179.3(MSH6):c.2960C>G (p.Thr987Ser)
|
rs587779928
|
|
|
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)
|
rs115386788
|
|
|
NM_000179.3(MSH6):c.2979A>T (p.Glu993Asp)
|
rs370462886
|
|
|
NM_000179.3(MSH6):c.2983G>C (p.Glu995Gln)
|
rs63750258
|
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
|
NM_000179.3(MSH6):c.2986T>C (p.Leu996=)
|
rs876658605
|
|
|
NM_000179.3(MSH6):c.3012A>G (p.Lys1004=)
|
rs864622378
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
|
NM_000179.3(MSH6):c.3047C>T (p.Ala1016Val)
|
rs587779929
|
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
|
NM_000179.3(MSH6):c.3054C>A (p.Leu1018=)
|
rs772191770
|
|
|
NM_000179.3(MSH6):c.3066A>G (p.Glu1022=)
|
rs766709747
|
|
|
NM_000179.3(MSH6):c.3068A>G (p.Glu1023Gly)
|
rs1553414454
|
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
|
NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln)
|
rs181727939
|
|
|
NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu)
|
rs730881801
|
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
|
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=)
|
rs149605979
|
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
|
NM_000179.3(MSH6):c.3171G>T (p.Leu1057Phe)
|
rs1553414599
|
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
|
NM_000179.3(MSH6):c.3172+9_3172+10insGTTC
|
rs1553414607
|
|
|
NM_000179.3(MSH6):c.3173-18T>C
|
rs189672273
|
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
|
NM_000179.3(MSH6):c.320C>T (p.Pro107Leu)
|
rs878853732
|
|
|
NM_000179.3(MSH6):c.3220A>G (p.Met1074Val)
|
rs730881804
|
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3253A>T (p.Thr1085Ser)
|
rs751563328
|
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000179.3(MSH6):c.328G>A (p.Val110Ile)
|
rs876659374
|
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
|
NM_000179.3(MSH6):c.3307T>C (p.Phe1103Leu)
|
rs1553331522
|
|
|
NM_000179.3(MSH6):c.3308T>G (p.Phe1103Cys)
|
rs1553331529
|
|
|
NM_000179.3(MSH6):c.3328C>A (p.Pro1110Thr)
|
rs374070511
|
|
|
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
|
NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)
|
rs1553331600
|
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
|
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)
|
rs544518097
|
|
|
NM_000179.3(MSH6):c.3395T>C (p.Val1132Ala)
|
rs1114167711
|
|
|
NM_000179.3(MSH6):c.339C>T (p.His113=)
|
rs886056141
|
|
|
NM_000179.3(MSH6):c.3410T>C (p.Met1137Thr)
|
rs1553331742
|
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
|
NM_000179.3(MSH6):c.3438+16A>G
|
rs1469439866
|
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
|
NM_000179.3(MSH6):c.3439-26_3439-25del
|
rs750310368
|
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
|
NM_000179.3(MSH6):c.3456A>G (p.Val1152=)
|
rs750998416
|
|
|
NM_000179.3(MSH6):c.3459G>A (p.Met1153Ile)
|
rs1553332160
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
|
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
|
rs398123231
|
|
|
NM_000179.3(MSH6):c.3477C>T (p.Tyr1159=)
|
rs398123231
|
|
|
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
|
rs1114167767
|
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
|
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)
|
rs587782084
|
|
|
NM_000179.3(MSH6):c.3527G>A (p.Arg1176Lys)
|
rs876661148
|
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
|
NM_000179.3(MSH6):c.3548T>A (p.Ile1183Lys)
|
rs1459635476
|
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
|
NM_000179.3(MSH6):c.3556+36_3556+39del
|
rs55684722
|
|
|
NM_000179.3(MSH6):c.3557-4dup
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3557-7_3557-4del
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
|
NM_000179.3(MSH6):c.3574G>C (p.Val1192Leu)
|
rs1669959178
|
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
|
NM_000179.3(MSH6):c.3594C>A (p.Ala1198=)
|
|
|
|
NM_000179.3(MSH6):c.35C>T (p.Pro12Leu)
|
rs760603184
|
|
|
NM_000179.3(MSH6):c.3602T>A (p.Leu1201His)
|
|
|
|
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
|
|
|
|
NM_000179.3(MSH6):c.3605_3614del (p.Met1202fs)
|
|
|
|
NM_000179.3(MSH6):c.3609T>C (p.His1203=)
|
rs1669965072
|
|
|
NM_000179.3(MSH6):c.3615A>G (p.Thr1205=)
|
rs876660407
|
|
|
NM_000179.3(MSH6):c.3623C>T (p.Ser1208Phe)
|
rs1572742021
|
|
|
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)
|
rs864622748
|
|
|
NM_000179.3(MSH6):c.3646+1G>T
|
rs1553332772
|
|
|
NM_000179.3(MSH6):c.3647-35_3647-34insTTTGTTCTAATTCCTTT
|
rs397515292
|
|
|
NM_000179.3(MSH6):c.3647-6T>C
|
rs182871847
|
|
|
NM_000179.3(MSH6):c.366G>A (p.Glu122=)
|
rs774303198
|
|
|
NM_000179.3(MSH6):c.3679_3690del (p.Ile1227_Ala1230del)
|
rs2104538290
|
|
|
NM_000179.3(MSH6):c.3698A>G (p.Lys1233Arg)
|
rs766557450
|
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
|
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn)
|
rs587782106
|
|
|
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)
|
rs545552712
|
|
|
NM_000179.3(MSH6):c.3716T>C (p.Ile1239Thr)
|
rs786203816
|
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
|
NM_000179.3(MSH6):c.3730T>G (p.Leu1244Val)
|
rs1060502938
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
|
NM_000179.3(MSH6):c.3740C>T (p.Thr1247Ile)
|
rs786204182
|
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
|
NM_000179.3(MSH6):c.3752C>T (p.Ser1251Leu)
|
rs1558392317
|
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3759AGA[1] (p.Glu1254del)
|
rs587779937
|
|
|
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr)
|
rs878853738
|
|
|
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
|
|
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
|
NM_000179.3(MSH6):c.37A>C (p.Lys13Gln)
|
rs942019524
|
|
|
NM_000179.3(MSH6):c.3802-1G>T
|
|
|
|
NM_000179.3(MSH6):c.3802-6_3802-4del
|
rs587781932
|
|
|
NM_000179.3(MSH6):c.3804A>G (p.Ala1268=)
|
rs1572746044
|
|
|
NM_000179.3(MSH6):c.3812_3838dup (p.Ser1279_Gln1280insLeuGluAsnGluCysGluAspProSer)
|
|
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
|
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)
|
rs63750143
|
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
|
NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)
|
rs1114167720
|
|
|
NM_000179.3(MSH6):c.3843G>T (p.Glu1281Asp)
|
rs864622384
|
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
|
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
|
rs1553333420
|
|
|
NM_000179.3(MSH6):c.3850_3851insGGA (p.Ile1283_Thr1284insArg)
|
rs1553333421
|
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
|
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=)
|
rs2229018
|
|
|
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn)
|
rs1670110153
|
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
|
NM_000179.3(MSH6):c.3897C>G (p.Gly1299=)
|
rs1558393788
|
|
|
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)
|
rs41294988
|
|
|
NM_000179.3(MSH6):c.3912G>A (p.Arg1304=)
|
rs786202333
|
|
|
NM_000179.3(MSH6):c.3917C>T (p.Ala1306Val)
|
|
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
|
NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)
|
rs267608129
|
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
|
NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu)
|
rs1416452389
|
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
|
NM_000179.3(MSH6):c.3961A>T (p.Arg1321Ter)
|
rs41295278
|
|
|
NM_000179.3(MSH6):c.3971A>C (p.Glu1324Ala)
|
rs1114167738
|
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
|
NM_000179.3(MSH6):c.3990A>G (p.Leu1330=)
|
rs1558394684
|
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
|
NM_000179.3(MSH6):c.4001+1G>C
|
rs1114167729
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+49_4001+50insCTAACTGACCTTAAGTTTCAA
|
rs863225419
|
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
|
NM_000179.3(MSH6):c.4002-11_4002-9del
|
rs754951578
|
|
|
NM_000179.3(MSH6):c.4002-6_4002-1del
|
rs1670205307
|
|
|
NM_000179.3(MSH6):c.4044A>C (p.Glu1348Asp)
|
rs786203740
|
|
|
NM_000179.3(MSH6):c.4058T>C (p.Leu1353Ser)
|
rs56238300
|
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
|
NM_000179.3(MSH6):c.4074G>A (p.Lys1358=)
|
rs759392159
|
|
|
NM_000179.3(MSH6):c.4081dup (p.Ter1361LeuextTer?)
|
rs1060502898
|
|
|
NM_000179.3(MSH6):c.408C>T (p.Asp136=)
|
rs878853746
|
|
|
NM_000179.3(MSH6):c.427G>A (p.Val143Ile)
|
rs876661110
|
|
|
NM_000179.3(MSH6):c.457+3A>G
|
rs1060502921
|
|
|
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)
|
rs1060502885
|
|
|
NM_000179.3(MSH6):c.458-5del
|
rs587781955
|
|
|
NM_000179.3(MSH6):c.458-8C>G
|
rs372091232
|
|
|
NM_000179.3(MSH6):c.458-9T>C
|
rs1572716040
|
|
|
NM_000179.3(MSH6):c.474A>G (p.Glu158=)
|
rs878853747
|
|
|
NM_000179.3(MSH6):c.489T>A (p.Gly163=)
|
rs745399921
|
|
|
NM_000179.3(MSH6):c.504A>G (p.Ala168=)
|
rs1057520319
|
|
|
NM_000179.3(MSH6):c.513A>G (p.Glu171=)
|
rs786201116
|
|
|
NM_000179.3(MSH6):c.517_520del (p.Leu173fs)
|
rs1553411419
|
|
|
NM_000179.3(MSH6):c.553A>G (p.Lys185Glu)
|
rs193922344
|
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
|
NM_000179.3(MSH6):c.583G>T (p.Val195Phe)
|
rs267608038
|
|
|
NM_000179.3(MSH6):c.597C>G (p.Pro199=)
|
rs1553411498
|
|
|
NM_000179.3(MSH6):c.618A>G (p.Glu206=)
|
rs758635514
|
|
|
NM_000179.3(MSH6):c.627+25_627+27del
|
rs560035113
|
|
|
NM_000179.3(MSH6):c.627+3G>A
|
rs876659495
|
|
|
NM_000179.3(MSH6):c.627+7C>G
|
rs1553411516
|
|
|
NM_000179.3(MSH6):c.628-7C>T
|
rs373129248
|
|
|
NM_000179.3(MSH6):c.62A>G (p.Asn21Ser)
|
rs267608025
|
|
|
NM_000179.3(MSH6):c.661_672del (p.Glu221_Glu224del)
|
rs1553412079
|
|
|
NM_000179.3(MSH6):c.67G>A (p.Ala23Thr)
|
rs730881810
|
|
|
NM_000179.3(MSH6):c.680G>A (p.Ser227Asn)
|
rs587779317
|
|
|
NM_000179.3(MSH6):c.686A>G (p.Glu229Gly)
|
rs587782591
|
|
|
NM_000179.3(MSH6):c.696G>A (p.Gln232=)
|
rs777770119
|
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
|
NM_000179.3(MSH6):c.723T>C (p.Ser241=)
|
rs1553412150
|
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
|
NM_000179.3(MSH6):c.735A>G (p.Ile245Met)
|
rs2104294265
|
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
|
NM_000179.3(MSH6):c.743G>A (p.Arg248Gln)
|
rs764870249
|
|
|
NM_000179.3(MSH6):c.743G>C (p.Arg248Pro)
|
rs764870249
|
|
|
NM_000179.3(MSH6):c.768T>C (p.Ser256=)
|
rs1558659235
|
|
|
NM_000179.3(MSH6):c.773T>C (p.Ile258Thr)
|
rs1553412195
|
|
|
NM_000179.3(MSH6):c.78G>A (p.Arg26=)
|
rs1395190094
|
|
|
NM_000179.3(MSH6):c.801A>G (p.Pro267=)
|
|
|
|
NM_000179.3(MSH6):c.802G>C (p.Asp268His)
|
rs1553412217
|
|
|
NM_000179.3(MSH6):c.828T>C (p.Asp276=)
|
rs1669259831
|
|
|
NM_000179.3(MSH6):c.840T>C (p.Ser280=)
|
rs767974147
|
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
|
NM_000179.3(MSH6):c.899G>C (p.Arg300Pro)
|
rs55760494
|
|
|
NM_000179.3(MSH6):c.900dup (p.Lys301fs)
|
rs863225421
|
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
|
NM_000179.3(MSH6):c.907A>T (p.Met303Leu)
|
rs977576724
|
|
|
NM_000179.3(MSH6):c.927T>C (p.Ser309=)
|
rs771288794
|
|
|
NM_000179.3(MSH6):c.936_941del (p.Arg312_Lys313del)
|
rs1553412361
|
|
|
NM_000179.3(MSH6):c.945T>G (p.Ser315=)
|
rs761581941
|
|
|
NM_000179.3(MSH6):c.975A>G (p.Gln325=)
|
rs193922345
|
|
|
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
|
|
|
|
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val)
|
rs61750181
|
|
|
NM_000180.4(GUCY2D):c.514C>T (p.Leu172Phe)
|
|
|
|
NM_000181.4(GUSB):c.1016A>G (p.Asn339Ser)
|
|
|
|
NM_000181.4(GUSB):c.1135A>G (p.Asn379Asp)
|
|
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
|
NM_000181.4(GUSB):c.11G>A (p.Gly4Glu)
|
rs1355624664
|
|
|
NM_000181.4(GUSB):c.151T>A (p.Phe51Ile)
|
rs2116062709
|
|
|
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg)
|
rs794726973
|
|
|
NM_000181.4(GUSB):c.1618G>A (p.Glu540Lys)
|
|
|
|
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
|
|
|
|
NM_000181.4(GUSB):c.1786del (p.Gln596fs)
|
|
|
|
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs)
|
rs935464108
|
|
|
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
|
|
|
|
NM_000181.4(GUSB):c.724+1G>T
|
rs2116026958
|
|
|
NM_000181.4(GUSB):c.956T>C (p.Phe319Ser)
|
rs2115961823
|
|
|
NM_000182.5(HADHA):c.-17G>A
|
rs1553316732
|
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
|
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
|
|
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
|
NM_000182.5(HADHA):c.1844del (p.Asn615fs)
|
rs1669575714
|
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
|
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
|
NM_000182.5(HADHA):c.2010_2012del (p.Asp670del)
|
|
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
|
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val)
|
rs764623179
|
|
|
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)
|
rs267606859
|
|
|
NM_000183.3(HADHB):c.811+1G>A
|
|
|
|
NM_000186.4(CFH):c.1356T>G (p.Ser452Arg)
|
|
|
|
NM_000186.4(CFH):c.1832G>A (p.Cys611Tyr)
|
rs2149108011
|
|
|
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)
|
rs2149118712
|
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
|
NM_000186.4(CFH):c.35T>C (p.Leu12Ser)
|
|
|
|
NM_000186.4(CFH):c.58+19C>G
|
|
|
|
NM_000187.4(HGD):c.1040G>C (p.Arg347Pro)
|
|
|
|
NM_000187.4(HGD):c.342+3A>C
|
|
|
|
NM_000187.4(HGD):c.898G>T (p.Val300Leu)
|
|
|
|
NM_000188.3(HK1):c.1969G>A (p.Asp657Asn)
|
|
|
|
NM_000188.3(HK1):c.2662G>A (p.Val888Met)
|
rs1564575554
|
|
|
NM_000188.3(HK1):c.40C>T (p.Leu14=)
|
rs1455013583
|
|
|
NM_000188.3(HK1):c.907G>A (p.Gly303Arg)
|
|
|
|
NM_000190.4(HMBS):c.232A>G (p.Thr78Ala)
|
|
|
|
NM_000190.4(HMBS):c.38A>G (p.Glu13Gly)
|
|
|
|
NM_000190.4(HMBS):c.75C>T (p.Thr25=)
|
rs1252084629
|
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
|
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
|
|
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
|
NM_000191.3(HMGCL):c.876+1G>C
|
rs779802353
|
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
|
NM_000193.4(SHH):c.1040C>T (p.Pro347Leu)
|
rs886042458
|
|
|
NM_000194.3(HPRT1):c.143G>A (p.Arg48His)
|
rs387906725
|
|
|
NM_000194.3(HPRT1):c.28-2A>T
|
rs1569354918
|
|
|
NM_000194.3(HPRT1):c.319-18T>G
|
|
|
|
NM_000195.4(HPS1):c.1602_1605delCCTA
|
|
|
|
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
|
|
|
|
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
|
rs1239621485
|
|
|
NM_000195.5(HPS1):c.398+5G>A
|
rs281865077
|
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
|
NM_000196.4(HSD11B2):c.1082G>A (p.Arg361His)
|
|
|
|
NM_000197.2(HSD17B3):c.277G>A (p.Glu93Lys)
|
|
|
|
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
|
|
|
|
NM_000198.4(HSD3B2):c.638G>C (p.Ser213Thr)
|
|
|
|
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)
|
rs80358220
|
|
|
NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)
|
|
|
|
NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)
|
|
|
|
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)
|
rs754609778
|
|
|
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
|
|
|
|
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
|
rs781213951
|
|
|
NM_000198.4(HSD3B2):c.946C>T (p.Arg316Cys)
|
|
|
|
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
|
|
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
|
NM_000199.5(SGSH):c.1060G>C (p.Ala354Pro)
|
|
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
|
NM_000199.5(SGSH):c.222C>T (p.Arg74=)
|
rs768056322
|
|
|
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
|
rs1385318543
|
|
|
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs)
|
rs2041840084
|
|
|
NM_000199.5(SGSH):c.664-39_664-36delinsGC
|
rs386799751
|
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
|
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)
|
rs1569560392
|
|
|
NM_000202.8(IDS):c.1269del (p.Val424fs)
|
|
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
|
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg)
|
rs1602725808
|
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
|
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
|
rs1569560528
|
|
|
NM_000202.8(IDS):c.1643T>A (p.Leu548Ter)
|
|
|
|
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
|
rs1569560527
|
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
|
NM_000202.8(IDS):c.350C>T (p.Ser117Phe)
|
|
|
|
NM_000202.8(IDS):c.400G>A (p.Gly134Arg)
|
|
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
|
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
|
rs2089450754
|
|
|
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)
|
rs903259179
|
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
|
NM_000203.5(IDUA):c.1190-10del
|
rs150523349
|
|
|
NM_000203.5(IDUA):c.1190-10dup
|
rs150523349
|
|
|
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)
|
rs1340421020
|
|
|
NM_000203.5(IDUA):c.1222G>A (p.Ala408Thr)
|
|
|
|
NM_000203.5(IDUA):c.1227dup (p.Thr410fs)
|
rs1715179164
|
|
|
NM_000203.5(IDUA):c.1262T>C (p.Leu421Pro)
|
rs2153022602
|
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
|
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)
|
|
|
|
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
|
|
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
|
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
|
rs727503966
|
|
|
NM_000203.5(IDUA):c.1650G>A (p.Gln550=)
|
|
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
|
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)
|
rs398123258
|
|
|
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
|
|
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
|
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
|
rs1456090810
|
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
|
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)
|
rs886043347
|
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
|
NM_000203.5(IDUA):c.42G>A (p.Leu14=)
|
rs1021970063
|
|
|
NM_000203.5(IDUA):c.457A>G (p.Lys153Glu)
|
rs1715035049
|
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
|
|
NM_000203.5(IDUA):c.512_513del (p.His171fs)
|
rs1715069355
|
|
|
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
|
|
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
|
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)
|
rs2153021904
|
|
|
NM_000203.5(IDUA):c.590-8C>T
|
rs6848974
|
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
|
NM_000203.5(IDUA):c.65del (p.Pro22fs)
|
rs1560531755
|
|
|
NM_000203.5(IDUA):c.664G>T (p.Gly222Cys)
|
rs1367413817
|
|
|
NM_000203.5(IDUA):c.713T>G (p.Leu238Arg)
|
|
|
|
NM_000203.5(IDUA):c.876del (p.Asp292fs)
|
rs1553917209
|
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
|
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
|
rs1715120049
|
|
|
NM_000203.5(IDUA):c.956C>T (p.Ala319Val)
|
rs781534097
|
|
|
NM_000204.5(CFI):c.502A>G (p.Arg168Gly)
|
|
|
|
NM_000204.5(CFI):c.622G>A (p.Asp208Asn)
|
|
|
|
NM_000204.5(CFI):c.658+1G>A
|
|
|
|
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)
|
rs2092262517
|
|
|
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter)
|
rs1569480082
|
|
|
NM_000206.3(IL2RG):c.270-1G>T
|
rs193922346
|
|
|
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)
|
rs193922347
|
|
|
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)
|
rs2092261347
|
|
|
NM_000206.3(IL2RG):c.395T>A (p.Leu132His)
|
rs2092261278
|
|
|
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)
|
rs1057517747
|
|
|
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)
|
rs193922348
|
|
|
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)
|
rs1569479994
|
|
|
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val)
|
rs2147749821
|
|
|
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr)
|
rs1064794027
|
|
|
NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser)
|
rs193922349
|
|
|
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg)
|
rs1569479909
|
|
|
NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter)
|
rs1556330249
|
|
|
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)
|
rs193922350
|
|
|
NM_000206.3(IL2RG):c.758-2A>G
|
rs2147747509
|
|
|
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)
|
rs137852508
|
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
|
NM_000207.3(INS):c.127T>G (p.Cys43Gly)
|
rs80356666
|
|
|
NM_000207.3(INS):c.163C>T (p.Arg55Cys)
|
rs121908261
|
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
|
NM_000207.3(INS):c.71C>T (p.Ala24Val)
|
rs80356663
|
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
|
NM_000208.4(INSR):c.3312G>A (p.Glu1104=)
|
|
|
|
NM_000209.4(PDX1):c.-50CTCCCGG[5]
|
rs193922352
|
|
|
NM_000209.4(PDX1):c.217dup (p.Leu73fs)
|
rs1445970498
|
|
|
NM_000209.4(PDX1):c.318G>T (p.Pro106=)
|
rs193922354
|
|
|
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly)
|
rs193922355
|
|
|
NM_000209.4(PDX1):c.488A>G (p.Lys163Arg)
|
|
|
|
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln)
|
rs193922356
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
|
NM_000209.4(PDX1):c.693C>T (p.Ser231=)
|
rs200411304
|
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
|
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)
|
|
|
|
NM_000212.3(ITGB3):c.1435G>A (p.Gly479Arg)
|
|
|
|
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)
|
|
|
|
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys)
|
rs151219882
|
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
|
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg)
|
rs2122620282
|
|
|
NM_000215.4(JAK3):c.1073TCT[1] (p.Phe359del)
|
rs1555745343
|
|
|
NM_000215.4(JAK3):c.1142+13C>A
|
rs3212733
|
|
|
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
|
rs193922361
|
|
|
NM_000215.4(JAK3):c.1890G>A (p.Gln630=)
|
rs193922363
|
|
|
NM_000215.4(JAK3):c.1915-11G>A
|
|
|
|
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
|
|
|
|
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs)
|
rs1555743321
|
|
|
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
|
|
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
|
NM_000215.4(JAK3):c.308+16del
|
rs3212717
|
|
|
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
|
|
|
|
NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp)
|
rs1265005806
|
|
|
NM_000215.4(JAK3):c.3281del (p.Gln1094fs)
|
rs2147669921
|
|
|
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)
|
rs193922364
|
|
|
NM_000215.4(JAK3):c.874T>G (p.Phe292Val)
|
|
|
|
NM_000216.4(ANOS1):c.1428G>T (p.Glu476Asp)
|
|
|
|
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter)
|
rs886039395
|
|
|
NM_000217.3(KCNA1):c.607C>T (p.His203Tyr)
|
|
|
|
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr)
|
rs2137673584
|
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
|
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)
|
rs397508077
|
|
|
NM_000218.3(KCNQ1):c.1128G>T (p.Gln376His)
|
rs1848577607
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>A
|
rs201364493
|
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
|
NM_000218.3(KCNQ1):c.130G>C (p.Gly44Arg)
|
|
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
|
NM_000218.3(KCNQ1):c.1394-1G>T
|
rs775537394
|
|
|
NM_000218.3(KCNQ1):c.1394-6C>A
|
rs759714698
|
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
|
NM_000218.3(KCNQ1):c.1515-2_1515-1del
|
rs1564886323
|
|
|
NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter)
|
rs397508096
|
|
|
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)
|
rs397508096
|
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
|
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=)
|
rs794728539
|
|
|
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs)
|
rs1848361555
|
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3])
|
rs397508107
|
|
|
NM_000218.3(KCNQ1):c.387-5T>A
|
rs794728549
|
|
|
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)
|
rs139042529
|
|
|
NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter)
|
rs794728547
|
|
|
NM_000218.3(KCNQ1):c.557G>C (p.Gly186Ala)
|
rs794728568
|
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
|
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro)
|
rs199472699
|
|
|
NM_000218.3(KCNQ1):c.639C>T (p.Leu213=)
|
rs913261020
|
|
|
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)
|
rs146350010
|
|
|
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn)
|
rs199472710
|
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
|
NM_000218.3(KCNQ1):c.781-19TG[2]
|
rs727503103
|
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
|
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)
|
rs120074180
|
|
|
NM_000218.3(KCNQ1):c.922-3C>A
|
rs794728515
|
|
|
NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn)
|
rs199472751
|
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
|
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)
|
rs199472756
|
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
|
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln)
|
rs1568836235
|
|
|
NM_000219.6(KCNE1):c.30G>T (p.Thr10=)
|
rs187686559
|
|
|
NM_000227.6(LAMA3):c.151dup (p.Val51fs)
|
rs80356678
|
|
|
NM_000227.6(LAMA3):c.69del (p.Gln24fs)
|
|
|
|
NM_000228.3(LAMB3):c.1096C>T (p.Arg366Trp)
|
|
|
|
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter)
|
rs749069550
|
|
|
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs)
|
rs786205095
|
|
|
NM_000228.3(LAMB3):c.1485+4C>T
|
|
|
|
NM_000228.3(LAMB3):c.1486-1G>A
|
rs1418276828
|
|
|
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)
|
rs769151482
|
|
|
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)
|
rs1064793896
|
|
|
NM_000228.3(LAMB3):c.242G>C (p.Arg81Pro)
|
rs978039540
|
|
|
NM_000228.3(LAMB3):c.2507C>T (p.Ala836Val)
|
rs1666261853
|
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
|
NM_000228.3(LAMB3):c.3051+3G>A
|
|
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
|
NM_000228.3(LAMB3):c.3228+11G>A
|
rs1420480218
|
|
|
NM_000228.3(LAMB3):c.3228+1G>A
|
rs778026407
|
|
|
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter)
|
rs369555024
|
|
|
NM_000228.3(LAMB3):c.622del (p.Ile208fs)
|
rs768303931
|
|
|
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
|
|
|
|
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr)
|
rs1553277738
|
|
|
NM_000228.3(LAMB3):c.973T>C (p.Cys325Arg)
|
|
|
|
NM_000231.3(SGCG):c.212T>C (p.Leu71Ser)
|
|
|
|
NM_000231.3(SGCG):c.269T>C (p.Leu90Ser)
|
|
|
|
NM_000231.3(SGCG):c.386-2A>G
|
rs886042757
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
|
NM_000232.5(SGCB):c.12GGC[3] (p.Ala9del)
|
rs768838951
|
|
|
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)
|
rs768838951
|
|
|
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp)
|
rs1560567653
|
|
|
NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr)
|
rs121912532
|
|
|
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)
|
rs797045094
|
|
|
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)
|
rs1554866097
|
|
|
NM_000235.4(LIPA):c.429-10T>G
|
rs1554865817
|
|
|
NM_000235.4(LIPA):c.600G>A (p.Leu200=)
|
rs1172318248
|
|
|
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)
|
rs2228159
|
|
|
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)
|
rs1589548972
|
|
|
NM_000237.3(LPL):c.1094C>T (p.Ser365Phe)
|
|
|
|
NM_000237.3(LPL):c.1166A>C (p.Tyr389Ser)
|
|
|
|
NM_000237.3(LPL):c.1309G>A (p.Glu437Lys)
|
|
|
|
NM_000237.3(LPL):c.1394G>A (p.Cys465Tyr)
|
rs2128839829
|
|
|
NM_000237.3(LPL):c.178G>T (p.Val60Leu)
|
|
|
|
NM_000237.3(LPL):c.213C>G (p.His71Gln)
|
rs11542065
|
|
|
NM_000237.3(LPL):c.250-8_250-6del
|
|
|
|
NM_000237.3(LPL):c.410G>A (p.Arg137Gln)
|
|
|
|
NM_000237.3(LPL):c.430-20A>C
|
|
|
|
NM_000237.3(LPL):c.464T>C (p.Leu155Pro)
|
|
|
|
NM_000237.3(LPL):c.678A>G (p.Pro226=)
|
rs558390128
|
|
|
NM_000237.3(LPL):c.89-10del
|
rs547644955
|
|
|
NM_000237.3(LPL):c.89-3C>T
|
|
|
|
NM_000237.3(LPL):c.8G>A (p.Ser3Asn)
|
|
|
|
NM_000237.3(LPL):c.925C>T (p.Arg309Cys)
|
|
|
|
NM_000238.4(KCNH2):c.-9G>A
|
rs1287855282
|
|
|
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)
|
rs1563161538
|
|
|
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)
|
rs199472897
|
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
|
NM_000238.4(KCNH2):c.1519C>T (p.Pro507Ser)
|
rs794728371
|
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
|
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
|
rs199472944
|
|
|
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)
|
rs199472957
|
|
|
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)
|
rs749211387
|
|
|
NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg)
|
rs199473420
|
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
|
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)
|
rs199472986
|
|
|
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr)
|
rs794728494
|
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
|
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr)
|
rs1801032078
|
|
|
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg)
|
rs1801029729
|
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
|
NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg)
|
rs1563149602
|
|
|
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)
|
rs143512106
|
|
|
NM_000238.4(KCNH2):c.2766del (p.Pro923fs)
|
rs1554424403
|
|
|
NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs)
|
|
|
|
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=)
|
rs769972412
|
|
|
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)
|
rs748706373
|
|
|
NM_000238.4(KCNH2):c.2959dup (p.Leu987fs)
|
rs2116931511
|
|
|
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)
|
rs1554424085
|
|
|
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
|
rs1800940404
|
|
|
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)
|
rs1554424044
|
|
|
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
|
rs1800937691
|
|
|
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)
|
rs36210421
|
|
|
NM_000238.4(KCNH2):c.3331-13GT[2]
|
rs41313749
|
|
|
NM_000238.4(KCNH2):c.3331-9G>A
|
rs754582515
|
|
|
NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=)
|
rs2116917718
|
|
|
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val)
|
rs1801462947
|
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly)
|
rs551056698
|
|
|
NM_000238.4(KCNH2):c.774C>T (p.Pro258=)
|
rs1554427740
|
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|
|
NM_000243.2(MEFV):c.[1105C>T;1223G>A]
|
|
|
|
NM_000243.2(MEFV):c.[1437C>G;501G>C]
|
|
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
|
NM_000243.3(MEFV):c.1425G>T (p.Gln475His)
|
rs2141669170
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
|
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs)
|
rs751375381
|
|
|
NM_000243.3(MEFV):c.1556A>T (p.Lys519Met)
|
|
|
|
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
rs922232615
|
|
|
NM_000243.3(MEFV):c.1727-2A>C
|
|
|
|
NM_000243.3(MEFV):c.1727-2A>G
|
|
|
|
NM_000243.3(MEFV):c.176C>G (p.Thr59Ser)
|
rs1959116488
|
|
|
NM_000243.3(MEFV):c.1793-19A>G
|
rs1958896562
|
|
|
NM_000243.3(MEFV):c.1883G>A (p.Arg628Lys)
|
|
|
|
NM_000243.3(MEFV):c.1895G>T (p.Gly632Val)
|
|
|
|
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)
|
rs104895115
|
|
|
NM_000243.3(MEFV):c.1945C>T (p.Leu649Phe)
|
|
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
|
NM_000243.3(MEFV):c.2078T>A (p.Met693Lys)
|
rs749052818
|
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
|
NM_000243.3(MEFV):c.2177T>A (p.Val726Asp)
|
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
|
NM_000243.3(MEFV):c.2253C>G (p.Pro751=)
|
rs1489831475
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
|
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter)
|
rs1366885918
|
|
|
NM_000243.3(MEFV):c.277+16C>A
|
rs781767206
|
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
|
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
rs587783379
|
|
|
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
rs777867857
|
|
|
NM_000243.3(MEFV):c.382G>C (p.Glu128Gln)
|
|
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
|
rs876660990
|
|
|
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln)
|
rs104895134
|
|
|
NM_000243.3(MEFV):c.564C>G (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
|
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)
|
rs759326778
|
|
|
NM_000243.3(MEFV):c.662C>T (p.Pro221Leu)
|
rs1431118968
|
|
|
NM_000243.3(MEFV):c.699G>A (p.Leu233=)
|
rs2141676964
|
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
|
NM_000243.3(MEFV):c.787C>G (p.Leu263Val)
|
rs1567237104
|
|
|
NM_000243.3(MEFV):c.809A>G (p.Asn270Ser)
|
rs1567237067
|
|
|
NM_000243.3(MEFV):c.910+4A>G
|
rs1335042159
|
|
|
NM_000243.3(MEFV):c.[329T>C;442G>C]
|
|
|
|
NM_000245.4(MET):c.1306G>C (p.Glu436Gln)
|
rs200740468
|
|
|
NM_000245.4(MET):c.1910C>A (p.Ser637Tyr)
|
rs2116920387
|
|
|
NM_000245.4(MET):c.2209A>G (p.Ser737Gly)
|
rs755571526
|
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
|
NM_000245.4(MET):c.3658G>C (p.Val1220Leu)
|
rs121913670
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
|
NM_000249.4(MLH1):c.*6del
|
|
|
|
NM_000249.4(MLH1):c.-5C>T
|
rs868796932
|
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
|
NM_000249.4(MLH1):c.1038+1G>A
|
rs267607816
|
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
|
NM_000249.4(MLH1):c.104T>A (p.Met35Lys)
|
rs63749906
|
|
|
NM_000249.4(MLH1):c.1072G>A (p.Glu358Lys)
|
rs1553650621
|
|
|
NM_000249.4(MLH1):c.1078G>T (p.Val360Phe)
|
rs878853775
|
|
|
NM_000249.4(MLH1):c.1081A>G (p.Lys361Glu)
|
rs786201875
|
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
|
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly)
|
rs876658410
|
|
|
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)
|
rs759868546
|
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.114C>T (p.Asn38=)
|
rs267607706
|
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
|
NM_000249.4(MLH1):c.117-9A>G
|
rs1060504004
|
|
|
NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg)
|
rs587782884
|
|
|
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp)
|
rs1305605404
|
|
|
NM_000249.4(MLH1):c.1184C>T (p.Ala395Val)
|
rs1064794142
|
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
|
NM_000249.4(MLH1):c.1225C>G (p.Gln409Glu)
|
rs63751153
|
|
|
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)
|
rs63751153
|
|
|
NM_000249.4(MLH1):c.1227G>A (p.Gln409=)
|
rs775776362
|
|
|
NM_000249.4(MLH1):c.125C>T (p.Ala42Val)
|
rs587778901
|
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
|
NM_000249.4(MLH1):c.1284T>G (p.Asp428Glu)
|
|
|
|
NM_000249.4(MLH1):c.1309C>G (p.Pro437Ala)
|
rs587782273
|
|
|
NM_000249.4(MLH1):c.1322del (p.Ala441fs)
|
rs2125885422
|
|
|
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)
|
rs763189331
|
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
|
NM_000249.4(MLH1):c.1409+1G>C
|
rs267607825
|
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
|
NM_000249.4(MLH1):c.1410-3C>G
|
rs2083690867
|
|
|
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs)
|
rs63751592
|
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
|
NM_000249.4(MLH1):c.1443G>A (p.Met481Ile)
|
rs1559558400
|
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
|
NM_000249.4(MLH1):c.1466A>C (p.Glu489Ala)
|
rs1553652986
|
|
|
NM_000249.4(MLH1):c.1476A>C (p.Ala492=)
|
rs864622619
|
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
|
NM_000249.4(MLH1):c.1501A>G (p.Ile501Val)
|
rs748613173
|
|
|
NM_000249.4(MLH1):c.1512_1513del (p.Ser505fs)
|
|
|
|
NM_000249.4(MLH1):c.1550del (p.Gly517fs)
|
rs2125903643
|
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
|
NM_000249.4(MLH1):c.1559T>C (p.Val520Ala)
|
rs1200485334
|
|
|
NM_000249.4(MLH1):c.1569G>T (p.Glu523Asp)
|
rs63751680
|
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
|
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
|
NM_000249.4(MLH1):c.1606C>T (p.Pro536Ser)
|
|
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
|
NM_000249.4(MLH1):c.1618T>C (p.Leu540=)
|
rs1448439825
|
|
|
NM_000249.4(MLH1):c.1657A>G (p.Thr553Ala)
|
rs1559575796
|
|
|
NM_000249.4(MLH1):c.1667+1G>A
|
rs1434898623
|
|
|
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)
|
rs63751460
|
|
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
|
NM_000249.4(MLH1):c.1731+1G>A
|
rs267607853
|
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
|
NM_000249.4(MLH1):c.1732-4C>G
|
rs876658984
|
|
|
NM_000249.4(MLH1):c.1734G>C (p.Glu578Asp)
|
rs1553662589
|
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
|
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)
|
rs876660860
|
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
|
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val)
|
rs63750016
|
|
|
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter)
|
rs1553662753
|
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
|
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)
|
rs587782621
|
|
|
NM_000249.4(MLH1):c.1780G>A (p.Glu594Lys)
|
rs1553662786
|
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
|
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)
|
rs863225378
|
|
|
NM_000249.4(MLH1):c.1803del (p.Asp601fs)
|
rs2125984944
|
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
|
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
|
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)
|
rs748851107
|
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
|
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)
|
rs1064795693
|
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
|
NM_000249.4(MLH1):c.1897-10C>T
|
rs1553663687
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
|
NM_000249.4(MLH1):c.1918C>G (p.Pro640Ala)
|
rs63749792
|
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
|
NM_000249.4(MLH1):c.1924C>G (p.Leu642Val)
|
rs577217817
|
|
|
NM_000249.4(MLH1):c.1936T>C (p.Tyr646His)
|
rs1553663884
|
|
|
NM_000249.4(MLH1):c.1953G>A (p.Glu651=)
|
rs878853784
|
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
|
NM_000249.4(MLH1):c.1978C>T (p.Leu660=)
|
rs752427924
|
|
|
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)
|
rs587778964
|
|
|
NM_000249.4(MLH1):c.1985C>T (p.Thr662Ile)
|
rs1559591605
|
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
|
NM_000249.4(MLH1):c.1993A>T (p.Asn665Tyr)
|
|
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
|
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)
|
rs63750206
|
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
|
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro)
|
rs587779957
|
|
|
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
|
|
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
|
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp)
|
rs63749995
|
|
|
NM_000249.4(MLH1):c.2091C>T (p.Leu697=)
|
rs536488280
|
|
|
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)
|
rs587778975
|
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
|
NM_000249.4(MLH1):c.2103G>T (p.Gln701His)
|
rs63750603
|
|
|
NM_000249.4(MLH1):c.210A>G (p.Lys70=)
|
rs63751191
|
|
|
NM_000249.4(MLH1):c.2135G>C (p.Trp712Ser)
|
rs63750561
|
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
|
NM_000249.4(MLH1):c.2142del (p.Lys713_Trp714insTer)
|
|
|
|
NM_000249.4(MLH1):c.2162del (p.Tyr721fs)
|
rs786202767
|
|
|
NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly)
|
rs786203433
|
|
|
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)
|
rs138584384
|
|
|
NM_000249.4(MLH1):c.2194A>C (p.Lys732Gln)
|
rs267607906
|
|
|
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)
|
rs587779958
|
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
|
NM_000249.4(MLH1):c.2256C>A (p.Val752=)
|
rs2085654744
|
|
|
NM_000249.4(MLH1):c.2266T>G (p.Cys756Gly)
|
rs765480781
|
|
|
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?)
|
rs267607892
|
|
|
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)
|
rs63749859
|
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
|
NM_000249.4(MLH1):c.253C>G (p.Leu85Val)
|
rs63750659
|
|
|
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp)
|
rs587779000
|
|
|
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp)
|
rs1193754562
|
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
|
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)
|
rs63750266
|
|
|
NM_000249.4(MLH1):c.302G>T (p.Gly101Val)
|
rs267607727
|
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
|
NM_000249.4(MLH1):c.314C>T (p.Ala105Val)
|
rs867655979
|
|
|
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)
|
rs572906317
|
|
|
NM_000249.4(MLH1):c.342T>C (p.Thr114=)
|
rs1057520553
|
|
|
NM_000249.4(MLH1):c.347del (p.Thr116fs)
|
rs876661159
|
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
|
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln)
|
rs587779008
|
|
|
NM_000249.4(MLH1):c.380+10T>C
|
rs1553641403
|
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
|
NM_000249.4(MLH1):c.441dup (p.Thr148fs)
|
rs2125773395
|
|
|
NM_000249.4(MLH1):c.453+10G>T
|
rs1553642170
|
|
|
NM_000249.4(MLH1):c.453G>T (p.Thr151=)
|
rs369521379
|
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
|
NM_000249.4(MLH1):c.539T>C (p.Val180Ala)
|
rs63750102
|
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
|
NM_000249.4(MLH1):c.545+4_545+5del
|
|
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
|
NM_000249.4(MLH1):c.617C>T (p.Thr206Ile)
|
rs2082346831
|
|
|
NM_000249.4(MLH1):c.621A>G (p.Leu207=)
|
rs770554901
|
|
|
NM_000249.4(MLH1):c.650del (p.Arg217fs)
|
|
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
|
NM_000249.4(MLH1):c.677+26dup
|
rs755619350
|
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
|
NM_000249.4(MLH1):c.729T>C (p.Asn243=)
|
rs876660573
|
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
|
NM_000249.4(MLH1):c.756A>C (p.Ser252=)
|
rs864622458
|
|
|
NM_000249.4(MLH1):c.767G>A (p.Cys256Tyr)
|
rs876659662
|
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
|
NM_000249.4(MLH1):c.790+2dup
|
rs267607791
|
|
|
NM_000249.4(MLH1):c.790C>G (p.His264Asp)
|
rs63751597
|
|
|
NM_000249.4(MLH1):c.791-49_791-45del
|
rs1559538882
|
|
|
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro)
|
rs138705565
|
|
|
NM_000249.4(MLH1):c.830A>G (p.Glu277Gly)
|
|
|
|
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)
|
rs63750792
|
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
|
NM_000249.4(MLH1):c.876G>A (p.Leu292=)
|
rs773452312
|
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
|
NM_000249.4(MLH1):c.885-8C>T
|
rs762836160
|
|
|
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly)
|
rs63750993
|
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
|
NM_000249.4(MLH1):c.927C>T (p.Pro309=)
|
rs63749896
|
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
|
NM_000249.4(MLH1):c.92C>T (p.Ala31Val)
|
rs730882127
|
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
|
NM_000249.4(MLH1):c.980_983dup (p.His329fs)
|
rs1559544297
|
|
|
NM_000249.4(MLH1):c.984_997del (p.His329fs)
|
rs587782265
|
|
|
NM_000251.2(MSH2):c.1077-66_1146del
|
rs193922372
|
|
|
NM_000251.3(MSH2):c.-8G>T
|
rs1064795641
|
|
|
NM_000251.3(MSH2):c.-9G>A
|
rs547444746
|
|
|
NM_000251.3(MSH2):c.1008del (p.Gln337fs)
|
rs879253899
|
|
|
NM_000251.3(MSH2):c.1011A>G (p.Gln337=)
|
rs1553353192
|
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
|
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
|
rs63750396
|
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
|
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)
|
rs1477257356
|
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
|
NM_000251.3(MSH2):c.1079T>G (p.Leu360Trp)
|
rs1558478097
|
|
|
NM_000251.3(MSH2):c.1083T>C (p.Asn361=)
|
rs864622544
|
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
|
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)
|
rs730881755
|
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
|
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)
|
rs63751412
|
|
|
NM_000251.3(MSH2):c.1206A>G (p.Gln402=)
|
rs1553356673
|
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
|
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs)
|
rs587779076
|
|
|
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
|
rs63750132
|
|
|
NM_000251.3(MSH2):c.1225C>A (p.Gln409Lys)
|
rs151244108
|
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
|
NM_000251.3(MSH2):c.1242A>T (p.Leu414=)
|
rs757250110
|
|
|
NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)
|
rs35717997
|
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
|
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)
|
rs730881766
|
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
|
NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter)
|
rs63751646
|
|
|
NM_000251.3(MSH2):c.1303G>A (p.Val435Ile)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1314T>C (p.Thr438=)
|
rs761558457
|
|
|
NM_000251.3(MSH2):c.132G>T (p.Thr44=)
|
rs766856128
|
|
|
NM_000251.3(MSH2):c.1343C>G (p.Ser448Cys)
|
rs587782524
|
|
|
NM_000251.3(MSH2):c.1346A>G (p.Lys449Arg)
|
rs879254064
|
|
|
NM_000251.3(MSH2):c.135G>A (p.Ala45=)
|
rs890172773
|
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
|
NM_000251.3(MSH2):c.1386+8A>G
|
rs1211676028
|
|
|
NM_000251.3(MSH2):c.1387-14_1387-11del
|
rs370436680
|
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
|
NM_000251.3(MSH2):c.1391A>G (p.Glu464Gly)
|
rs750737783
|
|
|
NM_000251.3(MSH2):c.1393_1420del (p.Asn465fs)
|
rs2104082965
|
|
|
NM_000251.3(MSH2):c.1401A>G (p.Glu467=)
|
rs1558508085
|
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
|
NM_000251.3(MSH2):c.1442_1445dup (p.Arg482fs)
|
rs63750930
|
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
|
NM_000251.3(MSH2):c.1487TAA[1] (p.Ile497del)
|
rs1666732788
|
|
|
NM_000251.3(MSH2):c.1510+1G>A
|
rs1114167852
|
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
|
NM_000251.3(MSH2):c.1523G>T (p.Gly508Val)
|
|
|
|
NM_000251.3(MSH2):c.1529_1531delinsT (p.Gln510fs)
|
rs2104172666
|
|
|
NM_000251.3(MSH2):c.1530G>A (p.Gln510=)
|
rs587782355
|
|
|
NM_000251.3(MSH2):c.1543del (p.Ser515fs)
|
|
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
|
NM_000251.3(MSH2):c.1593A>C (p.Lys531Asn)
|
rs1553366599
|
|
|
NM_000251.3(MSH2):c.1607A>T (p.Asn536Ile)
|
rs201722703
|
|
|
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)
|
rs980244810
|
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.1614C>T (p.Asn538=)
|
rs1666903426
|
|
|
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)
|
rs587778524
|
|
|
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)
|
rs1666904987
|
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
|
NM_000251.3(MSH2):c.1647T>C (p.Val549=)
|
rs763525239
|
|
|
NM_000251.3(MSH2):c.1657A>G (p.Asn553Asp)
|
rs772772789
|
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
|
NM_000251.3(MSH2):c.1661+5G>A
|
rs267607972
|
|
|
NM_000251.3(MSH2):c.1662-18T>C
|
rs376235435
|
|
|
NM_000251.3(MSH2):c.1662-2A>G
|
rs267607971
|
|
|
NM_000251.3(MSH2):c.1662-7T>C
|
rs1558514428
|
|
|
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)
|
rs587779102
|
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
|
NM_000251.3(MSH2):c.1713A>G (p.Glu571=)
|
rs1667077872
|
|
|
NM_000251.3(MSH2):c.1714_1715delinsAT (p.Glu572Ile)
|
rs1558514635
|
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
|
NM_000251.3(MSH2):c.1778A>T (p.Gln593Leu)
|
rs1558517711
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
|
NM_000251.3(MSH2):c.1786_1790delinsGG (p.Asn596_Asp597delinsGly)
|
rs1558517764
|
|
|
NM_000251.3(MSH2):c.1803G>A (p.Gln601=)
|
rs1553368556
|
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
|
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)
|
rs28929483
|
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
|
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)
|
rs63750203
|
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
|
NM_000251.3(MSH2):c.192C>A (p.Ile64=)
|
rs1395172053
|
|
|
NM_000251.3(MSH2):c.1935A>C (p.Gln645His)
|
rs587780684
|
|
|
NM_000251.3(MSH2):c.1938T>C (p.Asp646=)
|
rs775484022
|
|
|
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)
|
rs185356145
|
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
|
NM_000251.3(MSH2):c.1998C>T (p.Ile666=)
|
rs1450475535
|
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
|
NM_000251.3(MSH2):c.2006-2A>T
|
rs267607991
|
|
|
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)
|
rs267607996
|
|
|
NM_000251.3(MSH2):c.2028A>C (p.Ser676=)
|
rs1057522032
|
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
|
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)
|
rs730881762
|
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
|
NM_000251.3(MSH2):c.211+1G>C
|
rs1114167883
|
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
|
NM_000251.3(MSH2):c.212-4T>G
|
rs1558456954
|
|
|
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn)
|
rs752883472
|
|
|
NM_000251.3(MSH2):c.215C>G (p.Ala72Gly)
|
rs1558457009
|
|
|
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)
|
rs587781996
|
|
|
NM_000251.3(MSH2):c.217_227del (p.Lys73fs)
|
rs1114167863
|
|
|
NM_000251.3(MSH2):c.21G>A (p.Glu7=)
|
rs1060504423
|
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
|
NM_000251.3(MSH2):c.2239A>G (p.Ile747Val)
|
rs1553369652
|
|
|
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
|
NM_000251.3(MSH2):c.2289A>G (p.Ala763=)
|
rs1553369710
|
|
|
NM_000251.3(MSH2):c.2297del (p.Ile766fs)
|
rs863225394
|
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
|
NM_000251.3(MSH2):c.2342C>T (p.Ala781Val)
|
|
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
|
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)
|
rs63751018
|
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
|
NM_000251.3(MSH2):c.2458+10A>G
|
rs1269379998
|
|
|
NM_000251.3(MSH2):c.2458+5G>A
|
rs1667404666
|
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
|
NM_000251.3(MSH2):c.2459-1G>C
|
rs1060501991
|
|
|
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)
|
rs63749846
|
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
|
NM_000251.3(MSH2):c.2515C>T (p.His839Tyr)
|
|
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
|
NM_000251.3(MSH2):c.2545C>T (p.Leu849=)
|
rs587778527
|
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
|
NM_000251.3(MSH2):c.2580G>T (p.Ser860=)
|
rs752428475
|
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
|
NM_000251.3(MSH2):c.2625G>A (p.Leu875=)
|
|
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
|
NM_000251.3(MSH2):c.2634G>A (p.Glu878=)
|
rs63751624
|
|
|
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)
|
rs63750808
|
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
|
NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr)
|
rs1558457163
|
|
|
NM_000251.3(MSH2):c.2729A>G (p.Gln910Arg)
|
rs1553370878
|
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
|
NM_000251.3(MSH2):c.274C>A (p.Leu92Ile)
|
rs587779154
|
|
|
NM_000251.3(MSH2):c.2754G>C (p.Lys918Asn)
|
rs1553370893
|
|
|
NM_000251.3(MSH2):c.2756A>C (p.Asn919Thr)
|
|
|
|
NM_000251.3(MSH2):c.275T>A (p.Leu92His)
|
rs1387584638
|
|
|
NM_000251.3(MSH2):c.2775A>G (p.Glu925=)
|
rs1057521004
|
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
|
NM_000251.3(MSH2):c.283G>A (p.Val95Ile)
|
rs1323488764
|
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
|
NM_000251.3(MSH2):c.303A>G (p.Glu101=)
|
rs1672558110
|
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
|
NM_000251.3(MSH2):c.34dup (p.Glu12fs)
|
rs63750614
|
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
|
NM_000251.3(MSH2):c.367-3T>C
|
rs1558458845
|
|
|
NM_000251.3(MSH2):c.36G>C (p.Glu12Asp)
|
rs1558451303
|
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.421A>G (p.Met141Val)
|
rs193922374
|
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
|
NM_000251.3(MSH2):c.430del (p.Ser144fs)
|
rs1672660841
|
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
|
NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)
|
rs774132884
|
|
|
NM_000251.3(MSH2):c.464T>G (p.Val155Gly)
|
rs876658188
|
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
|
|
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)
|
rs63751226
|
|
|
NM_000251.3(MSH2):c.478C>A (p.Gln160Lys)
|
rs63751426
|
|
|
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)
|
rs63751426
|
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
|
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)
|
rs63750582
|
|
|
NM_000251.3(MSH2):c.496G>T (p.Val166Leu)
|
rs1672668358
|
|
|
NM_000251.3(MSH2):c.4_21dup (p.Ala2_Glu7dup)
|
rs281864943
|
|
|
NM_000251.3(MSH2):c.506T>C (p.Ile169Thr)
|
rs1060502011
|
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
|
NM_000251.3(MSH2):c.573C>G (p.Leu191=)
|
rs1800151
|
|
|
NM_000251.3(MSH2):c.588A>C (p.Pro196=)
|
rs1553350915
|
|
|
NM_000251.3(MSH2):c.606C>G (p.Pro202=)
|
rs63750600
|
|
|
NM_000251.3(MSH2):c.606C>T (p.Pro202=)
|
rs63750600
|
|
|
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)
|
rs63750574
|
|
|
NM_000251.3(MSH2):c.633G>A (p.Gly211=)
|
rs1558459840
|
|
|
NM_000251.3(MSH2):c.650_654del (p.Ile217fs)
|
rs63751602
|
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
|
NM_000251.3(MSH2):c.667C>G (p.Leu223Val)
|
rs1558461660
|
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
|
NM_000251.3(MSH2):c.6G>C (p.Ala2=)
|
rs368270856
|
|
|
NM_000251.3(MSH2):c.6G>T (p.Ala2=)
|
rs368270856
|
|
|
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser)
|
rs1212577306
|
|
|
NM_000251.3(MSH2):c.703_709del (p.Lys235fs)
|
rs2104102733
|
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
|
NM_000251.3(MSH2):c.719A>G (p.Asp240Gly)
|
rs878853822
|
|
|
NM_000251.3(MSH2):c.732G>A (p.Leu244=)
|
|
|
|
NM_000251.3(MSH2):c.738del (p.Gly247fs)
|
rs2104106456
|
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
|
NM_000251.3(MSH2):c.75del (p.Met26fs)
|
rs1553348760
|
|
|
NM_000251.3(MSH2):c.762_780del (p.Asn254fs)
|
rs2104108772
|
|
|
NM_000251.3(MSH2):c.774G>T (p.Leu258Phe)
|
rs755965129
|
|
|
NM_000251.3(MSH2):c.786G>T (p.Glu262Asp)
|
rs754820584
|
|
|
NM_000251.3(MSH2):c.789T>G (p.Asn263Lys)
|
rs878853823
|
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
|
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)
|
rs878853826
|
|
|
NM_000251.3(MSH2):c.79C>T (p.Pro27Ser)
|
rs878853826
|
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
|
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)
|
rs63749991
|
|
|
NM_000251.3(MSH2):c.845A>C (p.Asp282Ala)
|
rs587779978
|
|
|
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)
|
rs587779978
|
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
|
NM_000251.3(MSH2):c.846del (p.Asp282fs)
|
|
|
|
NM_000251.3(MSH2):c.849T>C (p.Asp283=)
|
rs876659344
|
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
|
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs)
|
rs1672951706
|
|
|
NM_000251.3(MSH2):c.874A>C (p.Thr292Pro)
|
rs104895022
|
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
|
NM_000251.3(MSH2):c.8T>G (p.Val3Gly)
|
|
|
|
NM_000251.3(MSH2):c.917C>T (p.Ala306Val)
|
rs1553352536
|
|
|
NM_000251.3(MSH2):c.928del (p.Asn311fs)
|
rs1064793179
|
|
|
NM_000251.3(MSH2):c.932del (p.Asn311fs)
|
rs587779979
|
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
|
NM_000251.3(MSH2):c.943-1G>T
|
rs12476364
|
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
|
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)
|
rs63750732
|
|
|
NM_000251.3(MSH2):c.970_971del (p.Gln324fs)
|
rs63751044
|
|
|
NM_000251.3(MSH2):c.976C>T (p.Leu326=)
|
rs1237931528
|
|
|
NM_000251.3(MSH2):c.98_99del (p.Thr33fs)
|
rs1672240193
|
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
|
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
|
|
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
|
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)
|
rs2148488364
|
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
|
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
|
|
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
|
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)
|
rs770466993
|
|
|
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
|
|
|
|
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
|
|
|
|
NM_000255.4(MMUT):c.1162A>G (p.Asn388Asp)
|
|
|
|
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)
|
rs1227030642
|
|
|
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)
|
rs1297307718
|
|
|
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter)
|
rs796052008
|
|
|
NM_000255.4(MMUT):c.1658del (p.Val553fs)
|
rs2127415956
|
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
|
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)
|
rs1369724342
|
|
|
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
|
|
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
|
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)
|
rs761773115
|
|
|
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)
|
|
|
|
NM_000255.4(MMUT):c.2098_2099del (p.Met700fs)
|
rs1767096752
|
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
|
NM_000255.4(MMUT):c.398G>A (p.Gly133Glu)
|
|
|
|
NM_000255.4(MMUT):c.398G>T (p.Gly133Val)
|
|
|
|
NM_000255.4(MMUT):c.421del (p.Ala141fs)
|
rs1767738752
|
|
|
NM_000255.4(MMUT):c.544dup (p.Met182fs)
|
|
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
|
NM_000255.4(MMUT):c.694A>T (p.Ile232Phe)
|
|
|
|
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)
|
rs780283588
|
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
|
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)
|
rs1179778233
|
|
|
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)
|
rs1236178301
|
|
|
NM_000256.3(MYBPC3):c.1072G>T (p.Asp358Tyr)
|
rs746267533
|
|
|
NM_000256.3(MYBPC3):c.1168del (p.His390fs)
|
rs397515889
|
|
|
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)
|
rs397515894
|
|
|
NM_000256.3(MYBPC3):c.1335G>C (p.Thr445=)
|
rs727503205
|
|
|
NM_000256.3(MYBPC3):c.1351+3G>T
|
|
|
|
NM_000256.3(MYBPC3):c.1371G>A (p.Thr457=)
|
rs538072263
|
|
|
NM_000256.3(MYBPC3):c.1457+20_1457+21delinsTT
|
rs2095890222
|
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
|
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
|
|
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
|
NM_000256.3(MYBPC3):c.1790+1G>A
|
rs1555122053
|
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
|
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met)
|
rs753300898
|
|
|
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs)
|
rs397515943
|
|
|
NM_000256.3(MYBPC3):c.2149-1G>A
|
rs727504334
|
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
|
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)
|
rs397515965
|
|
|
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs)
|
rs730880652
|
|
|
NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr)
|
rs1555121215
|
|
|
NM_000256.3(MYBPC3):c.2537T>A (p.Val846Asp)
|
rs193922379
|
|
|
NM_000256.3(MYBPC3):c.2555dup (p.Gly853fs)
|
|
|
|
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)
|
rs397515975
|
|
|
NM_000256.3(MYBPC3):c.2557G>T (p.Gly853Cys)
|
|
|
|
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)
|
rs775890771
|
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
|
NM_000256.3(MYBPC3):c.2737+20A>G
|
rs2095881689
|
|
|
NM_000256.3(MYBPC3):c.2905+1G>A
|
rs397515991
|
|
|
NM_000256.3(MYBPC3):c.2905+5G>A
|
rs193922381
|
|
|
NM_000256.3(MYBPC3):c.293-19C>T
|
|
|
|
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter)
|
rs866966651
|
|
|
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
|
rs727503172
|
|
|
NM_000256.3(MYBPC3):c.3330+2T>A
|
rs387906397
|
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
|
NM_000256.3(MYBPC3):c.350del (p.Pro117fs)
|
rs397516023
|
|
|
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)
|
rs397516029
|
|
|
NM_000256.3(MYBPC3):c.3627+1G>A
|
rs397516031
|
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
|
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)
|
rs397516041
|
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
|
NM_000256.3(MYBPC3):c.705_706inv (p.Ser236Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.909-8T>C
|
rs1260212325
|
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
|
NM_000257.4(MYH7):c.1048T>C (p.Tyr350His)
|
rs730880863
|
|
|
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp)
|
rs2138677416
|
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
|
NM_000257.4(MYH7):c.1225G>A (p.Glu409Lys)
|
rs1892823735
|
|
|
NM_000257.4(MYH7):c.12_24del (p.Glu5fs)
|
|
|
|
NM_000257.4(MYH7):c.132G>A (p.Gln44=)
|
|
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
|
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val)
|
rs771831848
|
|
|
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)
|
rs121913642
|
|
|
NM_000257.4(MYH7):c.193T>C (p.Tyr65His)
|
rs2138686468
|
|
|
NM_000257.4(MYH7):c.1956+20A>C
|
rs774605900
|
|
|
NM_000257.4(MYH7):c.200A>C (p.Lys67Thr)
|
rs2138686446
|
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
|
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn)
|
rs397516132
|
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
|
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg)
|
rs727503260
|
|
|
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter)
|
rs140175704
|
|
|
NM_000257.4(MYH7):c.2499C>A (p.Tyr833Ter)
|
rs397516151
|
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
|
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly)
|
rs727504311
|
|
|
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly)
|
rs2754158
|
|
|
NM_000257.4(MYH7):c.258A>G (p.Lys86=)
|
|
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
|
NM_000257.4(MYH7):c.2715T>C (p.Cys905=)
|
rs1231740034
|
|
|
NM_000257.4(MYH7):c.2718T>C (p.Asp906=)
|
rs1595081860
|
|
|
NM_000257.4(MYH7):c.2923-5G>A
|
rs779010466
|
|
|
NM_000257.4(MYH7):c.2931C>T (p.Asn977=)
|
rs757313728
|
|
|
NM_000257.4(MYH7):c.2997del (p.Gln1000fs)
|
rs2138662562
|
|
|
NM_000257.4(MYH7):c.3336+20G>T
|
|
|
|
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)
|
rs529700838
|
|
|
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)
|
rs727503249
|
|
|
NM_000257.4(MYH7):c.3789G>A (p.Ala1263=)
|
rs137918672
|
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
|
|
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)
|
rs397516208
|
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
|
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys)
|
rs876657884
|
|
|
NM_000257.4(MYH7):c.4463A>G (p.Tyr1488Cys)
|
rs948329167
|
|
|
NM_000257.4(MYH7):c.4616A>G (p.Glu1539Gly)
|
rs1446214564
|
|
|
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp)
|
rs397516227
|
|
|
NM_000257.4(MYH7):c.4945T>A (p.Leu1649Met)
|
|
|
|
NM_000257.4(MYH7):c.4953+15G>T
|
|
|
|
NM_000257.4(MYH7):c.5067T>G (p.Arg1689=)
|
rs1595072723
|
|
|
NM_000257.4(MYH7):c.5075_5076delinsAA (p.Val1692Glu)
|
rs1892169334
|
|
|
NM_000257.4(MYH7):c.5079G>A (p.Glu1693=)
|
rs570732103
|
|
|
NM_000257.4(MYH7):c.520A>G (p.Ile174Val)
|
|
|
|
NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys)
|
rs727505294
|
|
|
NM_000257.4(MYH7):c.5281G>A (p.Asp1761Asn)
|
rs1306082414
|
|
|
NM_000257.4(MYH7):c.5365A>G (p.Thr1789Ala)
|
|
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
|
NM_000257.4(MYH7):c.5654C>G (p.Ala1885Gly)
|
rs1892080169
|
|
|
NM_000257.4(MYH7):c.5704G>A (p.Glu1902Lys)
|
rs187073962
|
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
|
NM_000257.4(MYH7):c.641G>A (p.Gly214Asp)
|
|
|
|
NM_000257.4(MYH7):c.692G>T (p.Gly231Val)
|
rs1380372471
|
|
|
NM_000257.4(MYH7):c.704C>A (p.Thr235Asn)
|
rs1892944195
|
|
|
NM_000257.4(MYH7):c.953C>A (p.Thr318Asn)
|
rs397516274
|
|
|
NM_000258.3(MYL3):c.-15T>A
|
|
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.397T>A (p.Phe133Ile)
|
rs1553639870
|
|
|
NM_000260.4(MYO7A):c.1118G>A (p.Arg373His)
|
|
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
|
|
NM_000260.4(MYO7A):c.1709G>A (p.Arg570Gln)
|
|
|
|
NM_000260.4(MYO7A):c.1935+6T>C
|
|
|
|
NM_000260.4(MYO7A):c.2423A>G (p.Gln808Arg)
|
|
|
|
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)
|
rs782227741
|
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
|
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)
|
rs111033195
|
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
|
NM_000260.4(MYO7A):c.4268C>T (p.Thr1423Met)
|
|
|
|
NM_000260.4(MYO7A):c.4587C>G (p.Leu1529=)
|
|
|
|
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)
|
rs1555102843
|
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
|
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)
|
rs121965081
|
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
|
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363
|
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
|
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
|
NM_000263.4(NAGLU):c.203GCG[3] (p.Gly71del)
|
rs1186888836
|
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
|
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter)
|
|
|
|
NM_000263.4(NAGLU):c.229_236del (p.Val77fs)
|
rs2143076634
|
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
|
NM_000263.4(NAGLU):c.384-32_384-20dup
|
|
|
|
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs)
|
rs1460796923
|
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
|
NM_000263.4(NAGLU):c.678+1G>A
|
rs2143087145
|
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
|
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro)
|
rs1415169705
|
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
|
NM_000264.5(PTCH1):c.-24GGC[5]
|
rs71366293
|
|
|
NM_000264.5(PTCH1):c.-24GGC[8]
|
rs71366293
|
|
|
NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp)
|
rs199976372
|
|
|
NM_000264.5(PTCH1):c.1347G>A (p.Met449Ile)
|
|
|
|
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)
|
rs1311804361
|
|
|
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg)
|
rs1564030731
|
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
|
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
|
|
|
|
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
|
rs878853856
|
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
|
NM_000264.5(PTCH1):c.51C>T (p.Gly17=)
|
|
|
|
NM_000264.5(PTCH1):c.595T>C (p.Leu199=)
|
rs2118474956
|
|
|
NM_000265.7(NCF1):c.295= (p.Ser99=)
|
rs10614
|
|
|
NM_000268.4(NF2):c.115-1G>A
|
rs2065657938
|
|
|
NM_000268.4(NF2):c.169C>T (p.Arg57Ter)
|
rs121434259
|
|
|
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
|
rs1555993336
|
|
|
NM_000270.4(PNP):c.286-18G>A
|
rs1026474882
|
|
|
NM_000270.4(PNP):c.286-18G>C
|
rs1026474882
|
|
|
NM_000270.4(PNP):c.575A>G (p.Tyr192Cys)
|
rs104894452
|
|
|
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
|
|
|
|
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)
|
rs1474434210
|
|
|
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro)
|
rs1567965313
|
|
|
NM_000271.5(NPC1):c.1531A>G (p.Thr511Ala)
|
rs1555636594
|
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
|
NM_000271.5(NPC1):c.1947+10G>T
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)
|
rs1555634422
|
|
|
NM_000271.5(NPC1):c.2129del (p.Gln710fs)
|
rs2058753352
|
|
|
NM_000271.5(NPC1):c.2246-5G>C
|
rs77289650
|
|
|
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
|
|
|
|
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)
|
rs1555633697
|
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
|
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
|
|
|
|
NM_000271.5(NPC1):c.3047A>C (p.His1016Pro)
|
|
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
|
NM_000271.5(NPC1):c.3243_3755-94del
|
|
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
|
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
|
|
|
|
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs)
|
rs2145350930
|
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
|
NM_000271.5(NPC1):c.3481T>C (p.Cys1161Arg)
|
|
|
|
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala)
|
rs1194990534
|
|
|
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu)
|
rs748862167
|
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
|
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs)
|
rs786200879
|
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
|
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
|
|
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
|
NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)
|
|
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
|
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
|
|
|
|
NM_000271.5(NPC1):c.57+6C>T
|
|
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
|
NM_000271.5(NPC1):c.852del (p.Phe284fs)
|
rs762124334
|
|
|
NM_000271.5(NPC1):c.955+1G>A
|
|
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
|
NM_000273.3(GPR143):c.248T>C (p.Leu83Pro)
|
|
|
|
NM_000273.3(GPR143):c.553G>A (p.Glu185Lys)
|
|
|
|
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)
|
rs121965043
|
|
|
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)
|
rs121965058
|
|
|
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)
|
rs386833603
|
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
|
NM_000274.4(OAT):c.881_900+51del
|
rs1951451290
|
|
|
NM_000275.3(OCA2):c.1044+3A>G
|
|
|
|
NM_000275.3(OCA2):c.1243T>C (p.Tyr415His)
|
|
|
|
NM_000275.3(OCA2):c.1342C>T (p.Leu448Phe)
|
|
|
|
NM_000275.3(OCA2):c.1418T>G (p.Ile473Ser)
|
|
|
|
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys)
|
|
|
|
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
|
|
|
|
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)
|
|
|
|
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)
|
rs1595660890
|
|
|
NM_000275.3(OCA2):c.2055del (p.Phe685fs)
|
rs772595552
|
|
|
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
|
|
|
|
NM_000275.3(OCA2):c.2279A>T (p.Glu760Val)
|
|
|
|
NM_000275.3(OCA2):c.2432+1G>A
|
|
|
|
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
|
|
|
|
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile)
|
rs137853832
|
|
|
NM_000276.4(OCRL):c.120-17G>A
|
|
|
|
NM_000276.4(OCRL):c.1580T>A (p.Val527Asp)
|
|
|
|
NM_000276.4(OCRL):c.2582-1G>C
|
|
|
|
NM_000276.4(OCRL):c.2680T>G (p.Phe894Val)
|
|
|
|
NM_000276.4(OCRL):c.439+6A>G
|
|
|
|
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)
|
rs1169310686
|
|
|
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro)
|
rs62507282
|
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
|
NM_000277.3(PAH):c.1038del (p.Leu347fs)
|
rs62516063
|
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
|
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)
|
rs63329263
|
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
|
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)
|
rs1555203677
|
|
|
NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter)
|
rs149595475
|
|
|
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.1189G>T (p.Glu397Ter)
|
|
|
|
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>C
|
rs62509015
|
|
|
NM_000277.3(PAH):c.1199+5G>A
|
|
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
|
NM_000277.3(PAH):c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys)
|
|
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
|
NM_000277.3(PAH):c.1315A>G (p.Ser439Gly)
|
|
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
|
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.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
|
NM_000277.3(PAH):c.302A>G (p.Asp101Gly)
|
rs1877425793
|
|
|
NM_000277.3(PAH):c.332G>A (p.Arg111Gln)
|
|
|
|
NM_000277.3(PAH):c.344_347del (p.Lys115fs)
|
rs199475648
|
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
|
NM_000277.3(PAH):c.365C>A (p.Pro122Gln)
|
rs199475622
|
|
|
NM_000277.3(PAH):c.385G>C (p.Asp129His)
|
|
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
|
NM_000277.3(PAH):c.441+2T>A
|
rs1876618843
|
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
|
NM_000277.3(PAH):c.467C>A (p.Ala156Glu)
|
|
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
|
NM_000277.3(PAH):c.503del (p.Tyr168fs)
|
rs199475661
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
|
NM_000277.3(PAH):c.509A>C (p.His170Pro)
|
rs199475573
|
|
|
NM_000277.3(PAH):c.510-20_510-18dup
|
rs398123293
|
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
|
NM_000277.3(PAH):c.514C>T (p.Gln172Ter)
|
rs199475588
|
|
|
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.535T>C (p.Tyr179His)
|
rs199475671
|
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
|
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.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
|
NM_000277.3(PAH):c.679C>A (p.Leu227Met)
|
|
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
|
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.722_735delinsCCTCCGACCTGTA (p.Arg241fs)
|
rs2136646367
|
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
|
NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu)
|
|
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
|
NM_000277.3(PAH):c.770G>T (p.Gly257Val)
|
rs62642908
|
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
|
NM_000277.3(PAH):c.810A>T (p.Arg270Ser)
|
rs62514951
|
|
|
NM_000277.3(PAH):c.822_832del (p.Lys274fs)
|
rs199475581
|
|
|
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)
|
rs62508715
|
|
|
NM_000277.3(PAH):c.827T>G (p.Met276Arg)
|
rs62508722
|
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
|
NM_000277.3(PAH):c.856G>A (p.Glu286Lys)
|
rs62508739
|
|
|
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)
|
rs62642939
|
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
|
NM_000277.3(PAH):c.934G>C (p.Gly312Arg)
|
rs763115697
|
|
|
NM_000277.3(PAH):c.961C>A (p.Leu321Ile)
|
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
|
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)
|
rs2152894046
|
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
|
NM_000282.4(PCCA):c.2061T>G (p.Ile687Met)
|
|
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
|
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)
|
rs936088423
|
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
|
NM_000282.4(PCCA):c.720T>C (p.Asp240=)
|
|
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
|
NM_000284.4(PDHA1):c.1009-22_1057dup
|
rs1569193991
|
|
|
NM_000284.4(PDHA1):c.1018G>A (p.Val340Met)
|
rs1569194022
|
|
|
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)
|
rs1555935486
|
|
|
NM_000284.4(PDHA1):c.1170_1171dup (p.Ter391PheextTer?)
|
|
|
|
NM_000284.4(PDHA1):c.328C>G (p.Pro110Ala)
|
|
|
|
NM_000284.4(PDHA1):c.456G>A (p.Ser152=)
|
rs1358837850
|
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
|
NM_000284.4(PDHA1):c.510+18T>C
|
|
|
|
NM_000284.4(PDHA1):c.510+19dup
|
|
|
|
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
|
|
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
|
NM_000286.3(PEX12):c.445_454del (p.Ser149fs)
|
rs1567730901
|
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
|
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
|
rs28936697
|
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
|
NM_000287.4(PEX6):c.10_69del (p.Ala4_Leu23del)
|
|
|
|
NM_000287.4(PEX6):c.1130+4T>C
|
|
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
|
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)
|
rs1561823098
|
|
|
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)
|
rs769896492
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
|
NM_000287.4(PEX6):c.2552C>G (p.Pro851Arg)
|
rs2114237567
|
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
|
NM_000287.4(PEX6):c.802_815del (p.Asp268fs)
|
rs63749004
|
|
|
NM_000288.4(PEX7):c.-1G>A
|
|
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
|
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564
|
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
|
NM_000288.4(PEX7):c.401A>T (p.Asp134Val)
|
|
|
|
NM_000288.4(PEX7):c.418-1G>A
|
rs773406384
|
|
|
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)
|
rs62653607
|
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
|
NM_000288.4(PEX7):c.947del (p.Pro316fs)
|
rs2115300156
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
|
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
|
|
|
|
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
|
|
|
|
NM_000292.3(PHKA2):c.1787G>A (p.Gly596Glu)
|
|
|
|
NM_000292.3(PHKA2):c.3058-1G>A
|
rs751364453
|
|
|
NM_000292.3(PHKA2):c.3544A>G (p.Ile1182Val)
|
|
|
|
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)
|
rs137852288
|
|
|
NM_000292.3(PHKA2):c.993T>G (p.Phe331Leu)
|
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
|
NM_000293.3(PHKB):c.1A>G (p.Met1Val)
|
|
|
|
NM_000293.3(PHKB):c.2336+4del
|
|
|
|
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
|
|
|
|
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
|
|
|
|
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
|
|
|
|
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg)
|
rs763764574
|
|
|
NM_000293.3(PHKB):c.76+1G>C
|
|
|
|
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)
|
|
|
|
NM_000294.3(PHKG2):c.965C>G (p.Ala322Gly)
|
rs930832189
|
|
|
NM_000294.3(PHKG2):c.980G>A (p.Arg327His)
|
|
|
|
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_000295.5(SERPINA1):c.1093G>C (p.Asp365His)
|
|
|
|
NM_000295.5(SERPINA1):c.1178C>A (p.Pro393His)
|
|
|
|
NM_000297.4(PKD2):c.1095-1G>T
|
|
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
|
NM_000297.4(PKD2):c.596-12_599del
|
|
|
|
NM_000298.6(PKLR):c.1070T>A (p.Ile357Asn)
|
|
|
|
NM_000298.6(PKLR):c.997A>G (p.Ile333Val)
|
|
|
|
NM_000301.5(PLG):c.1024G>A (p.Val342Met)
|
|
|
|
NM_000301.5(PLG):c.2025C>A (p.Ala675=)
|
|
|
|
NM_000301.5(PLG):c.399C>A (p.His133Gln)
|
|
|
|
NM_000301.5(PLG):c.50-4C>G
|
|
|
|
NM_000301.5(PLG):c.554G>A (p.Cys185Tyr)
|
|
|
|
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys)
|
rs2115163630
|
|
|
NM_000302.4(PLOD1):c.-19C>T
|
|
|
|
NM_000302.4(PLOD1):c.1328+17T>G
|
|
|
|
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
|
|
|
|
NM_000302.4(PLOD1):c.1585-2A>G
|
|
|
|
NM_000302.4(PLOD1):c.1615T>C (p.Tyr539His)
|
|
|
|
NM_000302.4(PLOD1):c.1898C>G (p.Thr633Ser)
|
|
|
|
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
|
|
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
|
NM_000302.4(PLOD1):c.557T>C (p.Ile186Thr)
|
|
|
|
NM_000302.4(PLOD1):c.77-20A>C
|
|
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
|
NM_000303.3(PMM2):c.160dup (p.Glu54fs)
|
rs753122961
|
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
|
NM_000303.3(PMM2):c.424A>G (p.Ile142Val)
|
rs1256479593
|
|
|
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
|
|
|
|
NM_000303.3(PMM2):c.447+19T>C
|
rs11074924
|
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
|
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
|
|
|
|
NM_000303.3(PMM2):c.527G>T (p.Gly176Val)
|
rs940938678
|
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
|
NM_000303.3(PMM2):c.639+15G>C
|
|
|
|
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
|
|
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
|
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
|
|
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
|
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)
|
rs1555453271
|
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|
|
NM_000303.3(PMM2):c.98A>C (p.Gln33Pro)
|
|
|
|
NM_000305.3(PON2):c.*4G>A
|
|
|
|
NM_000305.3(PON2):c.-15C>T
|
|
|
|
NM_000305.3(PON2):c.139G>A (p.Gly47Arg)
|
|
|
|
NM_000305.3(PON2):c.195T>C (p.Phe65=)
|
|
|
|
NM_000305.3(PON2):c.195del (p.Phe65fs)
|
rs1201102139
|
|
|
NM_000305.3(PON2):c.286del (p.Arg96fs)
|
rs548392448
|
|
|
NM_000305.3(PON2):c.310C>T (p.Arg104Cys)
|
|
|
|
NM_000305.3(PON2):c.359T>G (p.Ile120Arg)
|
|
|
|
NM_000305.3(PON2):c.610GTT[1] (p.Val205del)
|
rs574854691
|
|
|
NM_000305.3(PON2):c.660T>C (p.Asp220=)
|
|
|
|
NM_000305.3(PON2):c.695+7C>T
|
|
|
|
NM_000305.3(PON2):c.698A>G (p.Tyr233Cys)
|
|
|
|
NM_000305.3(PON2):c.75-20dup
|
rs754815103
|
|
|
NM_000305.3(PON2):c.75-4A>G
|
|
|
|
NM_000305.3(PON2):c.873C>T (p.Phe291=)
|
|
|
|
NM_000306.4(POU1F1):c.3G>C (p.Met1Ile)
|
|
|
|
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
|
|
|
|
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)
|
rs104893765
|
|
|
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
|
|
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
|
NM_000308.4(CTSA):c.1344dup (p.Phe449fs)
|
|
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr)
|
rs1601139705
|
|
|
NM_000308.4(CTSA):c.517_518del (p.Phe173fs)
|
rs769812697
|
|
|
NM_000308.4(CTSA):c.51_52del (p.Leu18fs)
|
|
|
|
NM_000308.4(CTSA):c.526G>A (p.Gly176Arg)
|
|
|
|
NM_000308.4(CTSA):c.626CCT[1] (p.Ser210del)
|
rs1555832780
|
|
|
NM_000308.4(CTSA):c.990dup (p.Cys331fs)
|
rs758642867
|
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
|
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser)
|
rs369186379
|
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
|
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)
|
rs386833662
|
|
|
NM_000310.4(PPT1):c.708_712delinsAGA (p.Pro238fs)
|
|
|
|
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter)
|
rs386833668
|
|
|
NM_000310.4(PPT1):c.920G>T (p.Ter307Leu)
|
|
|
|
NM_000311.5(PRNP):c.222_245del (p.60PHGGGWGQ[3])
|
rs754362804
|
|
|
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg)
|
rs74315406
|
|
|
NM_000311.5(PRNP):c.714_716del (p.Pro239del)
|
rs2122231073
|
|
|
NM_000312.4(PROC):c.1277G>A (p.Cys426Tyr)
|
|
|
|
NM_000312.4(PROC):c.487G>C (p.Ala163Pro)
|
|
|
|
NM_000312.4(PROC):c.487G>T (p.Ala163Ser)
|
|
|
|
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del)
|
rs199469469
|
|
|
NM_000314.6(PTEN):c.-850C>T
|
rs559145151
|
|
|
NM_000314.6(PTEN):c.-856C>T
|
rs587779996
|
|
|
NM_000314.6(PTEN):c.-858C>G
|
rs1034838800
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
|
NM_000314.6(PTEN):c.-881A>C
|
|
|
|
NM_000314.6(PTEN):c.-892delT
|
rs1554889944
|
|
|
NM_000314.6(PTEN):c.-903G>C
|
rs1044322
|
|
|
NM_000314.6(PTEN):c.-903_-882dup
|
rs786204888
|
|
|
NM_000314.8(PTEN):c.*10del
|
rs756681683
|
|
|
NM_000314.8(PTEN):c.-751G>T
|
|
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
|
NM_000314.8(PTEN):c.-771G>A
|
rs786202516
|
|
|
NM_000314.8(PTEN):c.-773C>T
|
rs922418729
|
|
|
NM_000314.8(PTEN):c.-797G>A
|
|
|
|
NM_000314.8(PTEN):c.-797G>C
|
|
|
|
NM_000314.8(PTEN):c.-814G>A
|
rs876661178
|
|
|
NM_000314.8(PTEN):c.-819A>G
|
rs931643553
|
|
|
NM_000314.8(PTEN):c.-821C>G
|
rs1064793784
|
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
|
NM_000314.8(PTEN):c.-844T>G
|
|
|
|
NM_000314.8(PTEN):c.-851C>A
|
rs559145151
|
|
|
NM_000314.8(PTEN):c.-910T>G
|
rs550385924
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
|
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter)
|
rs2132283619
|
|
|
NM_000314.8(PTEN):c.1018A>C (p.Asn340His)
|
rs759852661
|
|
|
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)
|
rs1554825652
|
|
|
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp)
|
rs587782345
|
|
|
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr)
|
rs587782345
|
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
|
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp)
|
rs1085308042
|
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
|
NM_000314.8(PTEN):c.170_185del (p.Phe56_Leu57insTer)
|
|
|
|
NM_000314.8(PTEN):c.210-7C>T
|
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
|
NM_000314.8(PTEN):c.423del (p.Arg142fs)
|
rs1859979785
|
|
|
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)
|
rs1057520622
|
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
|
NM_000314.8(PTEN):c.504T>G (p.Ile168Met)
|
|
|
|
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
|
|
|
|
NM_000314.8(PTEN):c.522T>C (p.Tyr174=)
|
rs786201867
|
|
|
NM_000314.8(PTEN):c.635A>G (p.Asn212Ser)
|
rs1554825156
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
|
NM_000314.8(PTEN):c.6A>C (p.Thr2=)
|
rs1168115184
|
|
|
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)
|
rs121909235
|
|
|
NM_000314.8(PTEN):c.725A>T (p.Glu242Val)
|
rs1860545768
|
|
|
NM_000314.8(PTEN):c.750_751del (p.Cys250fs)
|
rs780264945
|
|
|
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)
|
rs121909239
|
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
|
NM_000314.8(PTEN):c.80-8del
|
rs1060503844
|
|
|
NM_000314.8(PTEN):c.802-3T>A
|
rs587780712
|
|
|
NM_000314.8(PTEN):c.808A>G (p.Met270Val)
|
rs1554825502
|
|
|
NM_000314.8(PTEN):c.824T>C (p.Val275Ala)
|
|
|
|
NM_000314.8(PTEN):c.838A>G (p.Ile280Val)
|
rs1474354667
|
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
|
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly)
|
rs863224667
|
|
|
NM_000314.8(PTEN):c.951A>C (p.Val317=)
|
rs876659993
|
|
|
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)
|
rs146650273
|
|
|
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs)
|
rs121913291
|
|
|
NM_000314.8(PTEN):c.993C>T (p.Asp331=)
|
rs2132283468
|
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
|
NM_000317.3(PTS):c.163+696_163+750del
|
rs1555198165
|
|
|
NM_000317.3(PTS):c.187-2A>G
|
rs2135409169
|
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
|
NM_000317.3(PTS):c.25C>T (p.Arg9Cys)
|
rs1859865664
|
|
|
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)
|
rs1367077861
|
|
|
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)
|
rs1859971515
|
|
|
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)
|
rs1167104933
|
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
|
NM_000318.3(PEX2):c.254A>T (p.Tyr85Phe)
|
rs1563606761
|
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
|
NM_000318.3(PEX2):c.325dup (p.Cys109fs)
|
rs1052655986
|
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
|
NM_000318.3(PEX2):c.352del (p.Glu118fs)
|
|
|
|
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
|
|
|
|
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn)
|
rs2108987681
|
|
|
NM_000320.3(QDPR):c.516del (p.Ala175fs)
|
|
|
|
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup)
|
rs757385912
|
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
|
NM_000321.3(RB1):c.1390-17del
|
rs753535084
|
|
|
NM_000321.3(RB1):c.1390-17dup
|
rs753535084
|
|
|
NM_000321.3(RB1):c.1390-2A>G
|
rs1555286568
|
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
|
NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs)
|
rs1555286570
|
|
|
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter)
|
rs1354030520
|
|
|
NM_000321.3(RB1):c.1419del (p.Phe473fs)
|
rs1555286573
|
|
|
NM_000321.3(RB1):c.1421+12_1421+32del
|
rs587781256
|
|
|
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)
|
rs1555286575
|
|
|
NM_000321.3(RB1):c.1499-10del
|
rs148580581
|
|
|
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)
|
rs572454921
|
|
|
NM_000321.3(RB1):c.539+1G>A
|
rs1566187856
|
|
|
NM_000321.3(RB1):c.608-4del
|
rs762805947
|
|
|
NM_000324.3(RHAG):c.572G>A (p.Arg191Gln)
|
|
|
|
NM_000324.3(RHAG):c.827C>G (p.Thr276Ser)
|
|
|
|
NM_000325.6(PITX2):c.208A>T (p.Lys70Ter)
|
rs2110435882
|
|
|
NM_000326.5(RLBP1):c.12+4A>G
|
|
|
|
NM_000326.5(RLBP1):c.12+6T>C
|
|
|
|
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
|
|
|
|
NM_000326.5(RLBP1):c.525G>C (p.Glu175Asp)
|
rs753278812
|
|
|
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)
|
rs28933990
|
|
|
NM_000326.5(RLBP1):c.780_794del (p.Ser260_Glu264del)
|
rs2150968673
|
|
|
NM_000329.3(RPE65):c.1007T>C (p.Phe336Ser)
|
|
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
|
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
|
|
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
|
NM_000329.3(RPE65):c.542C>T (p.Pro181Leu)
|
|
|
|
NM_000329.3(RPE65):c.643+5G>A
|
rs61752890
|
|
|
NM_000329.3(RPE65):c.644-2A>G
|
|
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
|
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
|
|
|
|
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
|
|
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
|
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
|
|
|
|
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)
|
rs121908559
|
|
|
NM_000334.4(SCN4A):c.483-5C>T
|
rs191547933
|
|
|
NM_000335.5(SCN5A):c.1140+1G>A
|
rs730880210
|
|
|
NM_000335.5(SCN5A):c.1338+2T>A
|
rs786204839
|
|
|
NM_000335.5(SCN5A):c.1338+3G>A
|
rs1553704675
|
|
|
NM_000335.5(SCN5A):c.1366G>C (p.Val456Leu)
|
|
|
|
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile)
|
rs199473118
|
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
|
NM_000335.5(SCN5A):c.1752C>G (p.Gly584=)
|
rs1166588443
|
|
|
NM_000335.5(SCN5A):c.1776C>T (p.Asn592=)
|
rs199473130
|
|
|
NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg)
|
rs1553704001
|
|
|
NM_000335.5(SCN5A):c.1862C>A (p.Pro621His)
|
|
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
|
NM_000335.5(SCN5A):c.2190C>T (p.Asn730=)
|
rs752594272
|
|
|
NM_000335.5(SCN5A):c.2403G>C (p.Met801Ile)
|
rs1559758625
|
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
|
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)
|
rs794728865
|
|
|
NM_000335.5(SCN5A):c.2667C>G (p.Leu889=)
|
rs587781162
|
|
|
NM_000335.5(SCN5A):c.2787+17dup
|
rs2061652536
|
|
|
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)
|
rs756159737
|
|
|
NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter)
|
rs1553699766
|
|
|
NM_000335.5(SCN5A):c.301A>C (p.Thr101Pro)
|
rs2062506882
|
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
|
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del)
|
rs758282196
|
|
|
NM_000335.5(SCN5A):c.3509-1G>C
|
rs1553698563
|
|
|
NM_000335.5(SCN5A):c.3580C>T (p.Arg1194Cys)
|
rs864622440
|
|
|
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)
|
rs1559738598
|
|
|
NM_000335.5(SCN5A):c.3723C>G (p.Ala1241=)
|
|
|
|
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu)
|
rs199473059
|
|
|
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs)
|
rs2125849694
|
|
|
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys)
|
rs1403211358
|
|
|
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)
|
rs1553695764
|
|
|
NM_000335.5(SCN5A):c.3944G>C (p.Arg1315Pro)
|
rs765907469
|
|
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
|
|
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu)
|
rs199473225
|
|
|
NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter)
|
|
|
|
NM_000335.5(SCN5A):c.4340T>C (p.Ile1447Thr)
|
rs199473251
|
|
|
NM_000335.5(SCN5A):c.4412A>T (p.Asn1471Ile)
|
rs199473255
|
|
|
NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter)
|
|
|
|
NM_000335.5(SCN5A):c.4499T>C (p.Leu1500Pro)
|
rs1060501132
|
|
|
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter)
|
rs199473620
|
|
|
NM_000335.5(SCN5A):c.4832T>C (p.Ile1611Thr)
|
rs1553693063
|
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
|
NM_000335.5(SCN5A):c.5256C>T (p.Thr1752=)
|
rs1553692850
|
|
|
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr)
|
rs199473633
|
|
|
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)
|
rs1480085793
|
|
|
NM_000335.5(SCN5A):c.5421T>A (p.Phe1807Leu)
|
rs1553692688
|
|
|
NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs)
|
rs2061022558
|
|
|
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
|
|
|
|
NM_000335.5(SCN5A):c.5469A>G (p.Pro1823=)
|
|
|
|
NM_000335.5(SCN5A):c.5815G>A (p.Asp1939Asn)
|
rs2061011231
|
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
|
NM_000335.5(SCN5A):c.592T>C (p.Phe198Leu)
|
|
|
|
NM_000335.5(SCN5A):c.6044T>A (p.Val2015Glu)
|
|
|
|
NM_000335.5(SCN5A):c.612-1G>A
|
rs1200777248
|
|
|
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)
|
rs199473082
|
|
|
NM_000335.5(SCN5A):c.922C>G (p.Leu308Val)
|
rs2062079664
|
|
|
NM_000336.3(SCNN1B):c.1270+17G>A
|
|
|
|
NM_000336.3(SCNN1B):c.1300G>A (p.Val434Met)
|
|
|
|
NM_000336.3(SCNN1B):c.1850C>T (p.Pro617Leu)
|
|
|
|
NM_000336.3(SCNN1B):c.1859A>G (p.Tyr620Cys)
|
|
|
|
NM_000337.6(SGCD):c.105G>C (p.Leu35=)
|
rs193922392
|
|
|
NM_000337.6(SGCD):c.3+19C>T
|
rs182715924
|
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[2]
|
rs727504998
|
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[4]
|
rs727504998
|
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
|
NM_000338.3(SLC12A1):c.1685-2A>G
|
|
|
|
NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs)
|
|
|
|
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)
|
|
|
|
NM_000338.3(SLC12A1):c.2761+2dup
|
|
|
|
NM_000338.3(SLC12A1):c.421-1G>A
|
|
|
|
NM_000339.2:c.(?_-30)_885del
|
|
|
|
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)
|
rs763620441
|
|
|
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)
|
|
|
|
NM_000341.4(SLC3A1):c.1307C>T (p.Pro436Leu)
|
|
|
|
NM_000341.4(SLC3A1):c.1518G>C (p.Lys506Asn)
|
|
|
|
NM_000341.4(SLC3A1):c.1A>G (p.Met1Val)
|
|
|
|
NM_000341.4(SLC3A1):c.899T>C (p.Leu300Ser)
|
|
|
|
NM_000342.4(SLC4A1):c.15+13T>C
|
|
|
|
NM_000344.4(SMN1):c.*10C>A
|
rs1749796858
|
|
|
NM_000344.4(SMN1):c.*2G>C
|
rs1286965446
|
|
|
NM_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
|
NM_000344.4(SMN1):c.*3+1G>C
|
rs1290417835
|
|
|
NM_000344.4(SMN1):c.*3+4_*3+7del
|
|
|
|
NM_000344.4(SMN1):c.*4G>A
|
rs1749796463
|
|
|
NM_000344.4(SMN1):c.*6A>G
|
rs1749796591
|
|
|
NM_000344.4(SMN1):c.835-13A>G
|
rs1561503068
|
|
|
NM_000344.4(SMN1):c.835-13A>T
|
rs1561503068
|
|
|
NM_000344.4(SMN1):c.835-13del
|
rs1561503075
|
|
|
NM_000344.4(SMN1):c.835-14T>A
|
rs370146091
|
|
|
NM_000344.4(SMN1):c.835-15T>G
|
rs1554082375
|
|
|
NM_000344.4(SMN1):c.835-17C>G
|
rs1749768663
|
|
|
NM_000344.4(SMN1):c.835-17C>T
|
rs1749768663
|
|
|
NM_000344.4(SMN1):c.835-18C>T
|
rs1554082373
|
|
|
NM_000344.4(SMN1):c.835-19T>A
|
rs1749768312
|
|
|
NM_000344.4(SMN1):c.835-1G>A
|
rs1217001154
|
|
|
NM_000344.4(SMN1):c.835-21C>A
|
rs1292776799
|
|
|
NM_000344.4(SMN1):c.835-24T>A
|
rs748758067
|
|
|
NM_000344.4(SMN1):c.835-24T>G
|
rs748758067
|
|
|
NM_000344.4(SMN1):c.835-24del
|
rs555928635
|
|
|
NM_000344.4(SMN1):c.835-28T>C
|
rs1554082369
|
|
|
NM_000344.4(SMN1):c.835-29T>G
|
rs1554082368
|
|
|
NM_000344.4(SMN1):c.835-2A>G
|
rs141760116
|
|
|
NM_000344.4(SMN1):c.835-2A>T
|
rs141760116
|
|
|
NM_000344.4(SMN1):c.835-31T>G
|
rs1749767005
|
|
|
NM_000344.4(SMN1):c.835-4dup
|
rs1554082376
|
|
|
NM_000344.4(SMN1):c.836G>A (p.Gly279Asp)
|
rs76163360
|
|
|
NM_000344.4(SMN1):c.837T>C (p.Gly279=)
|
rs1561503108
|
|
|
NM_000344.4(SMN1):c.840C>G (p.Phe280Leu)
|
rs1164325688
|
|
|
NM_000344.4(SMN1):c.841A>C (p.Arg281=)
|
rs1482083567
|
|
|
NM_000344.4(SMN1):c.842G>C (p.Arg281Thr)
|
rs1561503124
|
|
|
NM_000344.4(SMN1):c.847A>C (p.Asn283His)
|
rs1561503132
|
|
|
NM_000344.4(SMN1):c.855dup (p.Glu286fs)
|
rs1554082383
|
|
|
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
|
|
|
|
NM_000344.4(SMN1):c.883T>G (p.Ter295Glu)
|
rs1749775863
|
|
|
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
|
|
|
|
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)
|
|
|
|
NM_000348.4(SRD5A2):c.601T>A (p.Trp201Arg)
|
|
|
|
NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly)
|
|
|
|
NM_000348.4(SRD5A2):c.698G>A (p.Arg233Lys)
|
|
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
|
NM_000349.3(STAR):c.306+1G>A
|
|
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
|
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
|
|
|
|
NM_000349.3(STAR):c.714del (p.Lys238fs)
|
rs1417088430
|
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
|
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)
|
rs1183074086
|
|
|
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg)
|
rs61750150
|
|
|
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs)
|
rs1659351261
|
|
|
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)
|
rs1659200106
|
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
|
NM_000350.3(ABCA4):c.740A>C (p.Asn247Thr)
|
|
|
|
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
|
|
|
|
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
|
|
|
|
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)
|
rs2133616750
|
|
|
NM_000352.6(ABCC8):c.1332+17G>C
|
rs193922395
|
|
|
NM_000352.6(ABCC8):c.1453C>A (p.Gln485Lys)
|
rs1956391008
|
|
|
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu)
|
rs193922396
|
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
|
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)
|
rs1591832463
|
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
|
NM_000352.6(ABCC8):c.1881T>G (p.His627Gln)
|
|
|
|
NM_000352.6(ABCC8):c.1912T>C (p.Tyr638His)
|
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
|
NM_000352.6(ABCC8):c.2117-2A>T
|
rs1476853180
|
|
|
NM_000352.6(ABCC8):c.214A>G (p.Asn72Asp)
|
rs2133728894
|
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
|
NM_000352.6(ABCC8):c.2292-16G>A
|
|
|
|
NM_000352.6(ABCC8):c.2292-1G>A
|
rs1564905676
|
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
|
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
|
|
|
|
NM_000352.6(ABCC8):c.267T>G (p.Ile89Met)
|
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
|
NM_000352.6(ABCC8):c.2695-20G>A
|
|
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
|
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)
|
rs193922399
|
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
|
NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter)
|
rs1283621955
|
|
|
NM_000352.6(ABCC8):c.3785C>T (p.Ala1262Val)
|
|
|
|
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val)
|
rs80356637
|
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
|
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)
|
rs193922401
|
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
|
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)
|
rs2133400786
|
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
|
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
|
|
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
|
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
|
|
|
|
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)
|
rs193922406
|
|
|
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met)
|
rs193922407
|
|
|
NM_000352.6(ABCC8):c.4606G>C (p.Ala1536Pro)
|
|
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
|
NM_000352.6(ABCC8):c.46C>T (p.Arg16Trp)
|
rs1591935006
|
|
|
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)
|
rs1554943599
|
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
|
NM_000352.6(ABCC8):c.580-2A>G
|
|
|
|
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)
|
rs1057517199
|
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
|
NM_000352.6(ABCC8):c.86A>G (p.Asp29Gly)
|
|
|
|
NM_000352.6(ABCC8):c.890G>T (p.Arg297Met)
|
rs371802112
|
|
|
NM_000353.3(TAT):c.709G>C (p.Ala237Pro)
|
|
|
|
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)
|
rs121918722
|
|
|
NM_000359.3(TGM1):c.1201T>G (p.Phe401Val)
|
|
|
|
NM_000359.3(TGM1):c.1491+1G>T
|
|
|
|
NM_000359.3(TGM1):c.802del (p.Val268fs)
|
rs1322979131
|
|
|
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro)
|
rs764040146
|
|
|
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)
|
rs121918731
|
|
|
NM_000359.3(TGM1):c.991T>C (p.Ser331Pro)
|
|
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
|
NM_000360.4(TH):c.1147G>T (p.Gly383Trp)
|
|
|
|
NM_000360.4(TH):c.1200+2T>C
|
rs2133690169
|
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
|
NM_000360.4(TH):c.1229G>T (p.Arg410Leu)
|
rs367874223
|
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
|
|
NM_000360.4(TH):c.145C>T (p.Arg49Trp)
|
rs1312843586
|
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
|
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
|
|
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
|
NM_000360.4(TH):c.983G>T (p.Cys328Phe)
|
rs121917765
|
|
|
NM_000360.4(TH):c.990C>G (p.His330Gln)
|
|
|
|
NM_000361.3(THBD):c.168G>A (p.Arg56=)
|
|
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
|
NM_000363.5(TNNI3):c.282+16_282+17delinsTT
|
rs1555864004
|
|
|
NM_000363.5(TNNI3):c.288G>C (p.Leu96Phe)
|
rs1599909725
|
|
|
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)
|
rs773216333
|
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
|
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr)
|
rs121917761
|
|
|
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del)
|
rs397516351
|
|
|
NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA
|
rs139158921
|
|
|
NM_000363.5(TNNI3):c.562G>A (p.Val188Met)
|
rs193922409
|
|
|
NM_000363.5(TNNI3):c.611G>T (p.Arg204Leu)
|
|
|
|
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr)
|
rs796104366
|
|
|
NM_000368.5(TSC1):c.1030-5C>T
|
rs1588323218
|
|
|
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs)
|
rs118203495
|
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
|
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu)
|
rs118203565
|
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
|
NM_000368.5(TSC1):c.2041+6_2041+7dup
|
rs1845540759
|
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2626-5_2626-4dup
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
|
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)
|
rs2234980
|
|
|
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser)
|
rs952996030
|
|
|
NM_000368.5(TSC1):c.444A>G (p.Lys148=)
|
rs2132189552
|
|
|
NM_000368.5(TSC1):c.558A>G (p.Ala186=)
|
rs2132158268
|
|
|
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
|
|
|
|
NM_000368.5(TSC1):c.738-16T>C
|
rs2132008163
|
|
|
NM_000368.5(TSC1):c.792_793dup (p.Asp265fs)
|
|
|
|
NM_000369.5(TSHR):c.1169G>T (p.Cys390Phe)
|
|
|
|
NM_000369.5(TSHR):c.1582C>T (p.Arg528Cys)
|
|
|
|
NM_000369.5(TSHR):c.1591C>T (p.Arg531Trp)
|
|
|
|
NM_000369.5(TSHR):c.1897G>A (p.Asp633Asn)
|
|
|
|
NM_000369.5(TSHR):c.2098A>G (p.Lys700Glu)
|
|
|
|
NM_000369.5(TSHR):c.692+183T>C
|
|
|
|
NM_000370.3(TTPA):c.339del (p.Val114fs)
|
rs1563363293
|
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
|
NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)
|
|
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
|
NM_000370.3(TTPA):c.837A>G (p.Ter279Trp)
|
|
|
|
NM_000370.3(TTPA):c.88G>C (p.Ala30Pro)
|
rs2129796265
|
|
|
NM_000370.3(TTPA):c.92T>A (p.Leu31Gln)
|
rs2129796215
|
|
|
NM_000371.4(TTR):c.*9TCC[1]
|
rs766223850
|
|
|
NM_000371.4(TTR):c.149T>C (p.Val50Ala)
|
rs79977247
|
|
|
NM_000371.4(TTR):c.186G>T (p.Glu62Asp)
|
rs1340627860
|
|
|
NM_000371.4(TTR):c.200G>C (p.Gly67Ala)
|
rs121918090
|
|
|
NM_000371.4(TTR):c.208A>C (p.Ser70Arg)
|
rs386134269
|
|
|
NM_000371.4(TTR):c.210T>A (p.Ser70Arg)
|
rs121918076
|
|
|
NM_000371.4(TTR):c.210T>G (p.Ser70Arg)
|
rs121918076
|
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
|
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
|
rs121918091
|
|
|
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
|
rs2073510805
|
|
|
NM_000371.4(TTR):c.265T>C (p.Tyr89His)
|
rs121918100
|
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
|
NM_000371.4(TTR):c.303A>C (p.Ala101=)
|
rs1555631418
|
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
|
NM_000371.4(TTR):c.372C>G (p.Arg124=)
|
rs780119793
|
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
|
NM_000371.4(TTR):c.69+6T>C
|
|
|
|
NM_000371.4(TTR):c.70-7C>T
|
rs587780990
|
|
|
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
|
|
|
|
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys)
|
|
|
|
NM_000372.5(TYR):c.1109T>C (p.Met370Thr)
|
rs61754385
|
|
|
NM_000372.5(TYR):c.1168C>G (p.His390Asp)
|
rs62645914
|
|
|
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser)
|
|
|
|
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs)
|
rs765024056
|
|
|
NM_000372.5(TYR):c.307T>C (p.Cys103Arg)
|
rs1482829698
|
|
|
NM_000372.5(TYR):c.826T>C (p.Cys276Arg)
|
|
|
|
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)
|
rs61754380
|
|
|
NM_000373.4(UMPS):c.499G>A (p.Gly167Arg)
|
rs184856674
|
|
|
NM_000374.5(UROD):c.578G>C (p.Arg193Pro)
|
rs143823335
|
|
|
NM_000374.5(UROD):c.651dup (p.Glu218Ter)
|
|
|
|
NM_000376.3(VDR):c.-2-1G>A
|
|
|
|
NM_000377.2(WAS):c.509_510del
|
rs2062418811
|
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
|
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del)
|
rs193922412
|
|
|
NM_000377.3(WAS):c.1259T>C (p.Val420Ala)
|
|
|
|
NM_000377.3(WAS):c.1271dup (p.Leu425fs)
|
rs1557007312
|
|
|
NM_000377.3(WAS):c.1289G>T (p.Gly430Val)
|
rs1557007328
|
|
|
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
|
rs132630273
|
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
|
NM_000377.3(WAS):c.1499G>A (p.Trp500Ter)
|
rs1557007727
|
|
|
NM_000377.3(WAS):c.164T>C (p.Leu55Pro)
|
rs2062412293
|
|
|
NM_000377.3(WAS):c.229G>A (p.Asp77Asn)
|
rs2147262921
|
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
|
NM_000377.3(WAS):c.257G>C (p.Arg86Pro)
|
rs132630268
|
|
|
NM_000377.3(WAS):c.273+10_273+11dup
|
rs58371799
|
|
|
NM_000377.3(WAS):c.273+16C>A
|
|
|
|
NM_000377.3(WAS):c.290G>A (p.Trp97Ter)
|
rs1557006474
|
|
|
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)
|
rs193922414
|
|
|
NM_000377.3(WAS):c.35dup (p.Arg13fs)
|
rs2062410421
|
|
|
NM_000377.3(WAS):c.360+1G>A
|
rs1057520700
|
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
|
NM_000377.3(WAS):c.413G>C (p.Arg138Pro)
|
rs139265251
|
|
|
NM_000377.3(WAS):c.553C>T (p.Gln185Ter)
|
rs1557006672
|
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
|
NM_000377.3(WAS):c.763dup (p.Gln255fs)
|
rs193922416
|
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
|
NM_000377.3(WAS):c.800T>G (p.Leu267Arg)
|
|
|
|
NM_000377.3(WAS):c.852del (p.Glu285fs)
|
rs1557007035
|
|
|
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)
|
rs2062426981
|
|
|
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)
|
rs1557007123
|
|
|
NM_000379.4(XDH):c.1041C>A (p.Ser347=)
|
|
|
|
NM_000379.4(XDH):c.1981G>C (p.Val661Leu)
|
|
|
|
NM_000380.4(XPA):c.349_353del (p.Leu117fs)
|
rs1200172747
|
|
|
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)
|
rs1451780491
|
|
|
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)
|
rs149226993
|
|
|
NM_000380.4(XPA):c.648_649del (p.Lys217fs)
|
rs1057519018
|
|
|
NM_000380.4(XPA):c.666dup (p.Val223fs)
|
rs1554701103
|
|
|
NM_000380.4(XPA):c.673+1G>A
|
rs2131393093
|
|
|
NM_000380.4(XPA):c.674-2A>G
|
|
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
|
|
|
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)
|
|
|
|
NM_000380.4(XPA):c.817dup (p.Met273fs)
|
rs754458042
|
|
|
NM_000381.4(MID1):c.1663A>G (p.Ile555Val)
|
rs398123341
|
|
|
NM_000381.4(MID1):c.1841C>T (p.Ser614Phe)
|
|
|
|
NM_000381.4(MID1):c.778G>A (p.Ala260Thr)
|
|
|
|
NM_000381.4(MID1):c.829C>T (p.Arg277Ter)
|
rs1555895704
|
|
|
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
|
|
|
|
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
|
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>C
|
rs1036733598
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>T
|
rs1036733598
|
|
|
NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu)
|
rs1010078101
|
|
|
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
|
rs781059624
|
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
|
NM_000382.3(ALDH3A2):c.153+8C>A
|
rs1410085369
|
|
|
NM_000382.3(ALDH3A2):c.154-6_154-2del
|
|
|
|
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)
|
rs767751416
|
|
|
NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs)
|
rs886039304
|
|
|
NM_000382.3(ALDH3A2):c.385+2T>C
|
rs2084819840
|
|
|
NM_000382.3(ALDH3A2):c.471+1G>C
|
|
|
|
NM_000382.3(ALDH3A2):c.471+1del
|
rs786204741
|
|
|
NM_000382.3(ALDH3A2):c.472-2A>G
|
|
|
|
NM_000382.3(ALDH3A2):c.680+1G>A
|
|
|
|
NM_000382.3(ALDH3A2):c.681-1G>A
|
|
|
|
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
|
rs72547567
|
|
|
NM_000382.3(ALDH3A2):c.798+1del
|
rs757359379
|
|
|
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
|
|
|
|
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
|
rs730880264
|
|
|
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs)
|
rs2146375213
|
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
|
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
|
|
|
|
NM_000383.4(AIRE):c.1404G>A (p.Thr468=)
|
rs7281600
|
|
|
NM_000383.4(AIRE):c.1490del (p.Pro497fs)
|
rs750764323
|
|
|
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)
|
rs886041124
|
|
|
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)
|
rs121434256
|
|
|
NM_000383.4(AIRE):c.65T>G (p.Val22Gly)
|
|
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
|
NM_000383.4(AIRE):c.884A>G (p.Asn295Ser)
|
rs2040534330
|
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
|
NM_000383.4(AIRE):c.995+3_995+5delinsTAT
|
rs2040536458
|
|
|
NM_000384.3(APOB):c.10304T>A (p.Ile3435Asn)
|
|
|
|
NM_000384.3(APOB):c.10323G>A (p.Lys3441=)
|
rs1663144038
|
|
|
NM_000384.3(APOB):c.10326A>G (p.Gln3442=)
|
|
|
|
NM_000384.3(APOB):c.10345A>G (p.Lys3449Glu)
|
rs967810441
|
|
|
NM_000384.3(APOB):c.10403T>A (p.Met3468Lys)
|
rs1572778607
|
|
|
NM_000384.3(APOB):c.10413T>C (p.Ser3471=)
|
|
|
|
NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro)
|
rs201156840
|
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
|
NM_000384.3(APOB):c.10581G>A (p.Arg3527=)
|
rs1663135017
|
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
|
NM_000384.3(APOB):c.10740C>T (p.Asn3580=)
|
rs150312765
|
|
|
NM_000384.3(APOB):c.10753A>G (p.Ser3585Gly)
|
|
|
|
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
|
|
|
|
NM_000384.3(APOB):c.10848del (p.Gly3617fs)
|
rs982371659
|
|
|
NM_000384.3(APOB):c.10874A>G (p.Asn3625Ser)
|
rs1663126182
|
|
|
NM_000384.3(APOB):c.1260del (p.Glu420fs)
|
|
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
|
NM_000384.3(APOB):c.2249del (p.Met750fs)
|
|
|
|
NM_000384.3(APOB):c.4246_4251del (p.Asn1416_Thr1417del)
|
rs767878127
|
|
|
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)
|
rs756998699
|
|
|
NM_000387.6(SLC25A20):c.206C>T (p.Thr69Met)
|
|
|
|
NM_000387.6(SLC25A20):c.241G>A (p.Gly81Arg)
|
|
|
|
NM_000387.6(SLC25A20):c.270del (p.Phe91fs)
|
rs1575989549
|
|
|
NM_000387.6(SLC25A20):c.326+1del
|
rs757552268
|
|
|
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)
|
rs748394731
|
|
|
NM_000387.6(SLC25A20):c.47C>T (p.Ala16Val)
|
rs2083928547
|
|
|
NM_000387.6(SLC25A20):c.528del (p.Met177fs)
|
rs997204610
|
|
|
NM_000387.6(SLC25A20):c.575G>A (p.Trp192Ter)
|
|
|
|
NM_000387.6(SLC25A20):c.625del (p.Ala209fs)
|
rs2106637622
|
|
|
NM_000387.6(SLC25A20):c.646G>T (p.Gly216Trp)
|
|
|
|
NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg)
|
rs2083603903
|
|
|
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)
|
rs754871147
|
|
|
NM_000387.6(SLC25A20):c.804del (p.Phe269fs)
|
rs753414360
|
|
|
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
|
|
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
|
NM_000387.6(SLC25A20):c.897dup (p.Asn300fs)
|
rs587776759
|
|
|
NM_000388.4(CASR):c.1037G>A (p.Gly346Asp)
|
rs2107632791
|
|
|
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)
|
rs193922419
|
|
|
NM_000388.4(CASR):c.107G>T (p.Gly36Val)
|
rs1559955372
|
|
|
NM_000388.4(CASR):c.108del (p.Leu37fs)
|
rs886041823
|
|
|
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile)
|
rs576643925
|
|
|
NM_000388.4(CASR):c.1223A>G (p.Tyr408Cys)
|
rs2074636776
|
|
|
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)
|
rs193922421
|
|
|
NM_000388.4(CASR):c.1258G>A (p.Val420Met)
|
rs2107633175
|
|
|
NM_000388.4(CASR):c.1262A>G (p.Tyr421Cys)
|
rs2107633181
|
|
|
NM_000388.4(CASR):c.1268C>A (p.Ala423Glu)
|
rs2107633192
|
|
|
NM_000388.4(CASR):c.1377+2T>A
|
rs78925326
|
|
|
NM_000388.4(CASR):c.1378-1G>C
|
rs2074810403
|
|
|
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg)
|
rs774174934
|
|
|
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)
|
rs193922422
|
|
|
NM_000388.4(CASR):c.1522G>A (p.Val508Ile)
|
|
|
|
NM_000388.4(CASR):c.1562T>C (p.Leu521Pro)
|
|
|
|
NM_000388.4(CASR):c.157T>C (p.Ser53Pro)
|
rs2107625030
|
|
|
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe)
|
rs1057518409
|
|
|
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)
|
rs886041154
|
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
|
NM_000388.4(CASR):c.166del (p.Glu56fs)
|
rs193922424
|
|
|
NM_000388.4(CASR):c.1674_1678del (p.Glu558fs)
|
|
|
|
NM_000388.4(CASR):c.1676C>A (p.Pro559His)
|
rs193922425
|
|
|
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
|
|
|
|
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)
|
rs193922426
|
|
|
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)
|
rs193922427
|
|
|
NM_000388.4(CASR):c.1686C>T (p.Cys562=)
|
rs193922428
|
|
|
NM_000388.4(CASR):c.173T>A (p.Val58Glu)
|
rs2107625078
|
|
|
NM_000388.4(CASR):c.1802A>G (p.Lys601Arg)
|
rs2107649424
|
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
|
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg)
|
rs2107649522
|
|
|
NM_000388.4(CASR):c.1884del (p.Phe629fs)
|
rs193922429
|
|
|
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)
|
rs201852643
|
|
|
NM_000388.4(CASR):c.1933G>A (p.Ala645Thr)
|
rs2107649636
|
|
|
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp)
|
rs193922430
|
|
|
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro)
|
rs2107649656
|
|
|
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)
|
rs121909266
|
|
|
NM_000388.4(CASR):c.1997T>C (p.Leu666Pro)
|
rs2107649736
|
|
|
NM_000388.4(CASR):c.1A>G (p.Met1Val)
|
rs2107624704
|
|
|
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)
|
rs193922431
|
|
|
NM_000388.4(CASR):c.2014_2025del (p.Pro672_Trp675del)
|
rs2107649784
|
|
|
NM_000388.4(CASR):c.2024G>A (p.Trp675Ter)
|
|
|
|
NM_000388.4(CASR):c.205C>T (p.Arg69Cys)
|
rs1313627454
|
|
|
NM_000388.4(CASR):c.2065G>A (p.Val689Met)
|
rs2107649885
|
|
|
NM_000388.4(CASR):c.2087T>C (p.Leu696Pro)
|
rs2107649925
|
|
|
NM_000388.4(CASR):c.2096C>G (p.Thr699Ser)
|
|
|
|
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)
|
rs2107627458
|
|
|
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)
|
rs193922433
|
|
|
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)
|
rs193922433
|
|
|
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys)
|
rs193922434
|
|
|
NM_000388.4(CASR):c.2295C>G (p.Cys765Trp)
|
rs1232096655
|
|
|
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg)
|
rs1479933693
|
|
|
NM_000388.4(CASR):c.2335T>C (p.Tyr779His)
|
rs766889439
|
|
|
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)
|
rs193922435
|
|
|
NM_000388.4(CASR):c.2448C>G (p.Ile816Met)
|
rs781343891
|
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
|
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala)
|
rs2074939020
|
|
|
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)
|
rs193922436
|
|
|
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)
|
rs193922437
|
|
|
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln)
|
rs1057520791
|
|
|
NM_000388.4(CASR):c.2686del (p.Arg896fs)
|
rs193922438
|
|
|
NM_000388.4(CASR):c.281G>A (p.Gly94Glu)
|
rs1576854356
|
|
|
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000388.4(CASR):c.303C>A (p.Cys101Ter)
|
|
|
|
NM_000388.4(CASR):c.3063G>A (p.Thr1021=)
|
rs193922440
|
|
|
NM_000388.4(CASR):c.310G>A (p.Val104Ile)
|
rs2074564250
|
|
|
NM_000388.4(CASR):c.3153C>T (p.Ser1051=)
|
rs1576879292
|
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
|
NM_000388.4(CASR):c.380A>G (p.Glu127Gly)
|
rs121909260
|
|
|
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)
|
rs121909264
|
|
|
NM_000388.4(CASR):c.472G>A (p.Gly158Arg)
|
rs2107627885
|
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
|
NM_000388.4(CASR):c.496A>G (p.Ser166Gly)
|
rs193922441
|
|
|
NM_000388.4(CASR):c.518T>A (p.Leu173His)
|
|
|
|
NM_000388.4(CASR):c.532A>G (p.Asn178Asp)
|
rs1060502855
|
|
|
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)
|
rs104893707
|
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
|
NM_000388.4(CASR):c.554G>T (p.Arg185Leu)
|
rs104893689
|
|
|
NM_000388.4(CASR):c.554del (p.Arg185fs)
|
rs193922442
|
|
|
NM_000388.4(CASR):c.580_581delinsCT (p.Ala194Leu)
|
|
|
|
NM_000388.4(CASR):c.614G>T (p.Arg205Leu)
|
rs763162046
|
|
|
NM_000388.4(CASR):c.643G>C (p.Asp215His)
|
rs1553731681
|
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
|
NM_000388.4(CASR):c.666del (p.Ile223fs)
|
rs2107632061
|
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
|
NM_000388.4(CASR):c.725T>C (p.Leu242Pro)
|
rs1064794676
|
|
|
NM_000388.4(CASR):c.791C>G (p.Ala264Gly)
|
|
|
|
NM_000388.4(CASR):c.876C>T (p.Ile292=)
|
rs772232871
|
|
|
NM_000388.4(CASR):c.893C>T (p.Ala298Val)
|
rs1064797049
|
|
|
NM_000388.4(CASR):c.89G>A (p.Gly30Glu)
|
rs1553765889
|
|
|
NM_000388.4(CASR):c.91dup (p.Asp31fs)
|
rs2107624870
|
|
|
NM_000390.4(CHM):c.217C>G (p.Pro73Ala)
|
|
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
|
NM_000391.4(TPP1):c.1076-2A>G
|
rs1424116749
|
|
|
NM_000391.4(TPP1):c.1146-1G>A
|
rs1131691676
|
|
|
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
|
rs1855559514
|
|
|
NM_000391.4(TPP1):c.1524C>T (p.Tyr508=)
|
rs2134590875
|
|
|
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)
|
rs759664259
|
|
|
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)
|
rs1060502179
|
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
|
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)
|
rs759080581
|
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
|
NM_000391.4(TPP1):c.381-2A>G
|
rs1554902052
|
|
|
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)
|
rs1554902028
|
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
|
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)
|
rs752164603
|
|
|
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
|
|
|
|
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)
|
rs1405952769
|
|
|
NM_000391.4(TPP1):c.829G>A (p.Val277Met)
|
rs121908207
|
|
|
NM_000391.4(TPP1):c.89+5G>C
|
rs746085696
|
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
|
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
|
|
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
|
NM_000393.5(COL5A2):c.1555G>A (p.Gly519Arg)
|
|
|
|
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
|
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
|
|
|
|
NM_000393.5(COL5A2):c.1977+4T>C
|
rs1686064895
|
|
|
NM_000393.5(COL5A2):c.217A>G (p.Lys73Glu)
|
|
|
|
NM_000393.5(COL5A2):c.2189A>T (p.Glu730Val)
|
|
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
|
NM_000393.5(COL5A2):c.2862A>G (p.Gly954=)
|
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
|
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
|
rs778501601
|
|
|
NM_000393.5(COL5A2):c.3201+15A>C
|
|
|
|
NM_000393.5(COL5A2):c.3322C>A (p.Pro1108Thr)
|
|
|
|
NM_000393.5(COL5A2):c.3948C>T (p.Asn1316=)
|
|
|
|
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
|
|
|
|
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)
|
rs762212949
|
|
|
NM_000396.4(CTSK):c.541T>C (p.Tyr181His)
|
rs868112062
|
|
|
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile)
|
rs1569479953
|
|
|
NM_000397.4(CYBB):c.1140dup (p.Lys381fs)
|
rs193922445
|
|
|
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg)
|
rs1556471150
|
|
|
NM_000397.4(CYBB):c.1314+19C>T
|
rs34834015
|
|
|
NM_000397.4(CYBB):c.1415del (p.Gly472fs)
|
rs1929563459
|
|
|
NM_000397.4(CYBB):c.1565C>T (p.Thr522Ile)
|
|
|
|
NM_000397.4(CYBB):c.1586+74_1586+76dup
|
|
|
|
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer)
|
rs193922446
|
|
|
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.1629_1630delinsCT (p.Glu544Ter)
|
rs2146822029
|
|
|
NM_000397.4(CYBB):c.252G>A (p.Ala84=)
|
rs387906485
|
|
|
NM_000397.4(CYBB):c.253-1G>C
|
|
|
|
NM_000397.4(CYBB):c.302A>G (p.His101Arg)
|
rs137854591
|
|
|
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter)
|
rs180899069
|
|
|
NM_000397.4(CYBB):c.389G>C (p.Arg130Pro)
|
rs193922448
|
|
|
NM_000397.4(CYBB):c.483+1G>T
|
rs1131691828
|
|
|
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)
|
rs193922449
|
|
|
NM_000397.4(CYBB):c.674+34T>G
|
rs1569479417
|
|
|
NM_000397.4(CYBB):c.674+4_674+7del
|
rs1057517730
|
|
|
NM_000397.4(CYBB):c.674+62dup
|
rs1569479419
|
|
|
NM_000397.4(CYBB):c.80_83del (p.Val27fs)
|
rs1556464554
|
|
|
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)
|
rs151344466
|
|
|
NM_000398.7(CYB5R3):c.7del (p.Ala3fs)
|
|
|
|
NM_000399.5(EGR2):c.777C>T (p.Pro259=)
|
rs750955966
|
|
|
NM_000400.4(ERCC2):c.1133G>A (p.Arg378His)
|
|
|
|
NM_000400.4(ERCC2):c.1348C>T (p.Arg450Cys)
|
|
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
|
NM_000400.4(ERCC2):c.1780G>C (p.Ala594Pro)
|
|
|
|
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
|
|
|
|
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
|
rs376556895
|
|
|
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
|
|
|
|
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
|
|
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
|
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
|
|
|
|
NM_000400.4(ERCC2):c.5+6A>C
|
rs751637822
|
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
|
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
|
|
|
|
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)
|
rs137852333
|
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
|
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)
|
rs752177002
|
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
|
NM_000404.4(GLB1):c.1077del (p.Val360fs)
|
rs727503952
|
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
|
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)
|
rs202237232
|
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
|
NM_000404.4(GLB1):c.1598_1601dup (p.His534fs)
|
rs1304277420
|
|
|
NM_000404.4(GLB1):c.168C>G (p.His56Gln)
|
rs745385633
|
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
|
NM_000404.4(GLB1):c.1732A>C (p.Lys578Gln)
|
rs758921331
|
|
|
NM_000404.4(GLB1):c.1837_1838del (p.Pro613fs)
|
rs1696345066
|
|
|
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
|
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
|
|
|
|
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)
|
rs572237881
|
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
|
NM_000404.4(GLB1):c.733+2T>C
|
rs1699291583
|
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
|
NM_000404.4(GLB1):c.846del (p.Thr283fs)
|
rs1553610382
|
|
|
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser)
|
rs1244404381
|
|
|
NM_000406.3(GNRHR):c.35del (p.Asn12fs)
|
|
|
|
NM_000406.3(GNRHR):c.521A>G (p.Gln174Arg)
|
|
|
|
NM_000407.5(GP1BB):c.*11G>C
|
|
|
|
NM_000407.5(GP1BB):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_000407.5(GP1BB):c.544G>T (p.Ala182Ser)
|
rs542853528
|
|
|
NM_000410.4(HFE):c.145G>T (p.Ala49Ser)
|
|
|
|
NM_000410.4(HFE):c.282G>T (p.Trp94Cys)
|
|
|
|
NM_000410.4(HFE):c.282_283delinsTC (p.Trp94_Asp95delinsCysHis)
|
|
|
|
NM_000410.4(HFE):c.617-8_617-4del
|
|
|
|
NM_000410.4(HFE):c.688TAC[1] (p.Tyr231del)
|
rs766992720
|
|
|
NM_000410.4(HFE):c.77-2_78delinsTGGAGTC
|
rs1561939338
|
|
|
NM_000410.4(HFE):c.814G>A (p.Val272Ile)
|
|
|
|
NM_000410.4(HFE):c.814G>T (p.Val272Leu)
|
|
|
|
NM_000410.4(HFE):c.817C>T (p.Pro273Ser)
|
|
|
|
NM_000410.4(HFE):c.848A>C (p.Gln283Pro)
|
rs111033563
|
|
|
NM_000412.5(HRG):c.1325G>A (p.Gly442Asp)
|
|
|
|
NM_000412.5(HRG):c.392-3C>T
|
|
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
|
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
|
|
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
|
|
|
|
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
|
|
|
|
NM_000414.4(HSD17B4):c.623-2A>G
|
|
|
|
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)
|
rs387906825
|
|
|
NM_000414.4(HSD17B4):c.714+3A>G
|
|
|
|
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)
|
rs1561457987
|
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
|
NM_000416.3(IFNGR1):c.-19A>G
|
|
|
|
NM_000416.3(IFNGR1):c.201-1G>T
|
rs193922451
|
|
|
NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)
|
rs587776856
|
|
|
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met)
|
rs372294932
|
|
|
NM_000419.5(ITGA2B):c.1585A>C (p.Ile529Leu)
|
|
|
|
NM_000419.5(ITGA2B):c.1600+16G>T
|
rs199614885
|
|
|
NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn)
|
|
|
|
NM_000419.5(ITGA2B):c.188+8del
|
rs560275529
|
|
|
NM_000419.5(ITGA2B):c.1945G>A (p.Val649Met)
|
|
|
|
NM_000419.5(ITGA2B):c.1946+3G>T
|
|
|
|
NM_000419.5(ITGA2B):c.224del (p.Gly75fs)
|
rs1567906131
|
|
|
NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)
|
|
|
|
NM_000419.5(ITGA2B):c.2384A>C (p.Glu795Ala)
|
|
|
|
NM_000419.5(ITGA2B):c.2773G>A (p.Glu925Lys)
|
|
|
|
NM_000419.5(ITGA2B):c.2943+18G>A
|
|
|
|
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln)
|
rs879255514
|
|
|
NM_000419.5(ITGA2B):c.3102TGA[1] (p.Asp1035del)
|
|
|
|
NM_000426.4(LAMA2):c.164del (p.Asn55fs)
|
|
|
|
NM_000426.4(LAMA2):c.1782+2_1782+3insTT
|
|
|
|
NM_000426.4(LAMA2):c.1884+2T>C
|
rs968447029
|
|
|
NM_000426.4(LAMA2):c.2323-2A>T
|
|
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
|
NM_000426.4(LAMA2):c.3758T>G (p.Leu1253Arg)
|
|
|
|
NM_000426.4(LAMA2):c.3817C>T (p.Gln1273Ter)
|
rs200625655
|
|
|
NM_000426.4(LAMA2):c.3832G>T (p.Gly1278Cys)
|
rs571035066
|
|
|
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
|
|
|
|
NM_000426.4(LAMA2):c.4379del (p.Lys1460fs)
|
|
|
|
NM_000426.4(LAMA2):c.4850A>G (p.Gln1617Arg)
|
rs890490995
|
|
|
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)
|
rs768458445
|
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
|
NM_000426.4(LAMA2):c.5654A>G (p.Lys1885Arg)
|
rs2114694787
|
|
|
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser)
|
rs886043693
|
|
|
NM_000426.4(LAMA2):c.6992+3T>G
|
|
|
|
NM_000426.4(LAMA2):c.7216T>C (p.Ser2406Pro)
|
rs2114809893
|
|
|
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs)
|
rs2114839550
|
|
|
NM_000426.4(LAMA2):c.7749+6C>T
|
|
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
|
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
|
|
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
|
NM_000426.4(LAMA2):c.8614A>G (p.Ser2872Gly)
|
|
|
|
NM_000428.3(LTBP2):c.2428+1G>A
|
rs2139715414
|
|
|
NM_000429.3(MAT1A):c.934C>T (p.Arg312Trp)
|
|
|
|
NM_000431.4(MVK):c.605G>A (p.Gly202Glu)
|
|
|
|
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
|
|
|
|
NM_000432.4(MYL2):c.141del (p.Asn47fs)
|
rs2136774043
|
|
|
NM_000432.4(MYL2):c.169+20C>T
|
|
|
|
NM_000432.4(MYL2):c.181G>C (p.Val61Leu)
|
rs730880949
|
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
|
NM_000432.4(MYL2):c.274+16_274+17insTC
|
rs200007468
|
|
|
NM_000432.4(MYL2):c.353+33C>G
|
rs193922453
|
|
|
NM_000432.4(MYL2):c.353+46dup
|
rs142220381
|
|
|
NM_000432.4(MYL2):c.359G>C (p.Arg120Pro)
|
|
|
|
NM_000432.4(MYL2):c.429C>G (p.Pro143=)
|
rs374328118
|
|
|
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala)
|
rs397516407
|
|
|
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)
|
|
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
|
NM_000433.4(NCF2):c.1438del (p.Glu480fs)
|
rs2102875639
|
|
|
NM_000433.4(NCF2):c.417del (p.Ala140fs)
|
|
|
|
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
|
|
|
|
NM_000433.4(NCF2):c.623_624del (p.Val208fs)
|
|
|
|
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
|
|
|
|
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
|
|
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
|
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
|
|
|
|
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter)
|
rs768711214
|
|
|
NM_000435.3(NOTCH3):c.1099G>A (p.Asp367Asn)
|
|
|
|
NM_000435.3(NOTCH3):c.118+19G>T
|
|
|
|
NM_000435.3(NOTCH3):c.1788del (p.Lys596fs)
|
rs1303316005
|
|
|
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln)
|
rs2145423971
|
|
|
NM_000435.3(NOTCH3):c.2793-4C>G
|
|
|
|
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile)
|
rs771899820
|
|
|
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe)
|
rs773539041
|
|
|
NM_000435.3(NOTCH3):c.352T>G (p.Ser118Ala)
|
|
|
|
NM_000435.3(NOTCH3):c.3616A>G (p.Ile1206Val)
|
|
|
|
NM_000435.3(NOTCH3):c.3884A>G (p.Glu1295Gly)
|
|
|
|
NM_000435.3(NOTCH3):c.4585_4586delinsAA (p.Ala1529Asn)
|
rs2046767691
|
|
|
NM_000435.3(NOTCH3):c.5154C>T (p.Ala1718=)
|
|
|
|
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)
|
rs137852641
|
|
|
NM_000440.3(PDE6A):c.1066-9del
|
|
|
|
NM_000440.3(PDE6A):c.2368C>T (p.Arg790Cys)
|
|
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
|
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
|
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
|
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu)
|
rs753269996
|
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
|
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs)
|
rs1562835515
|
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
|
NM_000441.2(SLC26A4):c.2090A>G (p.Asp697Gly)
|
|
|
|
NM_000441.2(SLC26A4):c.2091T>G (p.Asp697Glu)
|
|
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
|
NM_000441.2(SLC26A4):c.2171A>T (p.Asp724Val)
|
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
|
NM_000441.2(SLC26A4):c.2291del (p.Thr764fs)
|
|
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
|
NM_000441.2(SLC26A4):c.487G>C (p.Val163Leu)
|
|
|
|
NM_000441.2(SLC26A4):c.497G>A (p.Ser166Asn)
|
|
|
|
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
|
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
|
NM_000441.2(SLC26A4):c.596T>C (p.Ile199Thr)
|
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
|
NM_000441.2(SLC26A4):c.765+3A>T
|
rs483353048
|
|
|
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)
|
rs121918441
|
|
|
NM_000443.4(ABCB4):c.212T>A (p.Leu71His)
|
|
|
|
NM_000443.4(ABCB4):c.3280-8G>T
|
rs1808206321
|
|
|
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn)
|
rs866301089
|
|
|
NM_000443.4(ABCB4):c.762del (p.Val255fs)
|
|
|
|
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)
|
rs551234479
|
|
|
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg)
|
rs551234479
|
|
|
NM_000444.6(PHEX):c.118+1G>A
|
rs1131691731
|
|
|
NM_000444.6(PHEX):c.1404+2T>G
|
rs193922454
|
|
|
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)
|
rs193922455
|
|
|
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
|
|
|
|
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
|
|
|
|
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)
|
rs193922456
|
|
|
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)
|
rs193922457
|
|
|
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)
|
rs193922458
|
|
|
NM_000444.6(PHEX):c.349+1G>C
|
rs193922459
|
|
|
NM_000444.6(PHEX):c.751A>G (p.Lys251Glu)
|
|
|
|
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)
|
rs2147040261
|
|
|
NM_000444.6(PHEX):c.850-15A>C
|
|
|
|
NM_000444.6(PHEX):c.884_885dup (p.Met296fs)
|
rs193922460
|
|
|
NM_000447.3(PSEN2):c.457del (p.Thr153fs)
|
|
|
|
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)
|
rs764981110
|
|
|
NM_000448.3(RAG1):c.1297G>A (p.Val433Met)
|
rs199474679
|
|
|
NM_000448.3(RAG1):c.145AAG[1] (p.Lys50del)
|
|
|
|
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp)
|
rs104894298
|
|
|
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser)
|
rs199474681
|
|
|
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
|
|
|
|
NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala)
|
rs773165685
|
|
|
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
|
|
|
|
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
|
|
|
|
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
|
|
|
|
NM_000448.3(RAG1):c.2657T>C (p.Met886Thr)
|
|
|
|
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)
|
rs1064793249
|
|
|
NM_000448.3(RAG1):c.276C>A (p.His92Gln)
|
rs550985019
|
|
|
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)
|
rs193922463
|
|
|
NM_000448.3(RAG1):c.775del (p.Ser259fs)
|
rs878853031
|
|
|
NM_000451.3:c.(?_-692)_(-433+1_-432-1)del
|
|
|
|
NM_000451.4(SHOX):c.277+20G>C
|
|
|
|
NM_000451.4(SHOX):c.277+8C>T
|
|
|
|
NM_000451.4(SHOX):c.279G>T (p.Gly93=)
|
rs193922465
|
|
|
NM_000451.4(SHOX):c.352_353del (p.Arg118fs)
|
rs1569493663
|
|
|
NM_000451.4(SHOX):c.401G>T (p.Arg134Leu)
|
|
|
|
NM_000451.4(SHOX):c.439C>A (p.Arg147Ser)
|
rs2124165990
|
|
|
NM_000451.4(SHOX):c.486+5G>A
|
|
|
|
NM_000451.4(SHOX):c.486+8C>G
|
rs374705909
|
|
|
NM_000451.4(SHOX):c.486G>C (p.Gln162His)
|
|
|
|
NM_000451.4(SHOX):c.506G>A (p.Arg169Lys)
|
rs2052840553
|
|
|
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys)
|
rs137852556
|
|
|
NM_000451.4(SHOX):c.518G>A (p.Arg173His)
|
rs746801054
|
|
|
NM_000451.4(SHOX):c.751G>A (p.Ala251Thr)
|
|
|
|
NM_000453.3(SLC5A5):c.471C>A (p.Asn157Lys)
|
|
|
|
NM_000454.5(SOD1):c.357+2T>G
|
rs2123435671
|
|
|
NM_000455.5(STK11):c.1008T>C (p.Thr336=)
|
rs878853981
|
|
|
NM_000455.5(STK11):c.103A>G (p.Ile35Val)
|
rs587781437
|
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
|
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)
|
rs769403473
|
|
|
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)
|
|
|
|
NM_000455.5(STK11):c.113C>G (p.Pro38Arg)
|
rs1568690036
|
|
|
NM_000455.5(STK11):c.117C>T (p.Arg39=)
|
rs786203942
|
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
|
NM_000455.5(STK11):c.1191G>A (p.Ala397=)
|
rs774759899
|
|
|
NM_000455.5(STK11):c.1205C>G (p.Thr402Ser)
|
rs750055790
|
|
|
NM_000455.5(STK11):c.1225C>A (p.Arg409=)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys)
|
rs864622448
|
|
|
NM_000455.5(STK11):c.1282T>A (p.Ser428Thr)
|
rs1064793938
|
|
|
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)
|
rs587781537
|
|
|
NM_000455.5(STK11):c.1284G>T (p.Ser428=)
|
rs369097329
|
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
|
NM_000455.5(STK11):c.374+6del
|
rs2080759180
|
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
|
NM_000455.5(STK11):c.407T>C (p.Met136Thr)
|
rs1060499958
|
|
|
NM_000455.5(STK11):c.425G>A (p.Ser142Asn)
|
rs1568705518
|
|
|
NM_000455.5(STK11):c.435G>A (p.Glu145=)
|
rs1555737810
|
|
|
NM_000455.5(STK11):c.463G>A (p.Gly155Arg)
|
rs763353991
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.465-5C>A
|
rs567202367
|
|
|
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter)
|
rs786201349
|
|
|
NM_000455.5(STK11):c.490C>T (p.Leu164=)
|
|
|
|
NM_000455.5(STK11):c.536C>G (p.Pro179Arg)
|
|
|
|
NM_000455.5(STK11):c.558C>T (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.609G>C (p.Pro203=)
|
rs786201228
|
|
|
NM_000455.5(STK11):c.621C>A (p.Asp207Glu)
|
|
|
|
NM_000455.5(STK11):c.634A>G (p.Thr212Ala)
|
rs1300171938
|
|
|
NM_000455.5(STK11):c.640C>T (p.Gln214Ter)
|
rs1131690923
|
|
|
NM_000455.5(STK11):c.658C>T (p.Gln220Ter)
|
rs1131690940
|
|
|
NM_000455.5(STK11):c.69del (p.Asp23fs)
|
rs2080670725
|
|
|
NM_000455.5(STK11):c.725G>A (p.Gly242Glu)
|
rs1568708382
|
|
|
NM_000455.5(STK11):c.734+1G>A
|
rs587782018
|
|
|
NM_000455.5(STK11):c.735-10C>T
|
rs553975112
|
|
|
NM_000455.5(STK11):c.735-3A>G
|
rs864622128
|
|
|
NM_000455.5(STK11):c.756G>A (p.Leu252=)
|
rs786201544
|
|
|
NM_000455.5(STK11):c.767A>T (p.Glu256Val)
|
rs2145426849
|
|
|
NM_000455.5(STK11):c.842dup (p.Leu282fs)
|
rs121913321
|
|
|
NM_000455.5(STK11):c.851del (p.Asp284fs)
|
rs1555738723
|
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
|
NM_000455.5(STK11):c.90C>T (p.Asp30=)
|
rs771765869
|
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
|
NM_000455.5(STK11):c.920+7G>T
|
rs2075607
|
|
|
NM_000455.5(STK11):c.946G>T (p.Ala316Ser)
|
rs864622303
|
|
|
NM_000455.5(STK11):c.96C>G (p.Thr32=)
|
rs79175212
|
|
|
NM_000458.4(HNF1B):c.*111G>C
|
|
|
|
NM_000458.4(HNF1B):c.-14dup
|
rs193922481
|
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
|
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
|
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC
|
rs386134268
|
|
|
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
|
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
|
NM_000458.4(HNF1B):c.336G>T (p.Arg112=)
|
rs2034108474
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
|
NM_000458.4(HNF1B):c.345-1G>T
|
|
|
|
NM_000458.4(HNF1B):c.352C>G (p.Pro118Ala)
|
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
|
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
|
|
|
|
NM_000458.4(HNF1B):c.58G>A (p.Gly20Arg)
|
rs1052557621
|
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
|
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
|
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
|
NM_000459.5(TEK):c.1217T>G (p.Val406Gly)
|
|
|
|
NM_000460.4(THPO):c.957G>C (p.Gln319His)
|
|
|
|
NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter)
|
|
|
|
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe)
|
rs72551360
|
|
|
NM_000463.3(UGT1A1):c.1469A>C (p.Asp490Ala)
|
|
|
|
NM_000465.3(BARD1):c.158+?_371dup
|
|
|
|
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln)
|
rs1401955290
|
|
|
NM_000465.4(BARD1):c.1079C>G (p.Pro360Arg)
|
|
|
|
NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg)
|
rs750827325
|
|
|
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)
|
rs587782436
|
|
|
NM_000465.4(BARD1):c.117C>T (p.Ala39=)
|
rs786202271
|
|
|
NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser)
|
rs776723079
|
|
|
NM_000465.4(BARD1):c.1270A>G (p.Arg424Gly)
|
rs1553622123
|
|
|
NM_000465.4(BARD1):c.1289C>T (p.Thr430Ile)
|
rs587780015
|
|
|
NM_000465.4(BARD1):c.128G>C (p.Arg43Pro)
|
rs1060501305
|
|
|
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val)
|
rs764592698
|
|
|
NM_000465.4(BARD1):c.1311T>C (p.Ile437=)
|
rs876659789
|
|
|
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)
|
rs730881417
|
|
|
NM_000465.4(BARD1):c.133G>A (p.Glu45Lys)
|
rs1553628365
|
|
|
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
|
|
|
NM_000465.4(BARD1):c.1361C>T (p.Pro454Leu)
|
rs772285343
|
|
|
NM_000465.4(BARD1):c.1438T>C (p.Leu480=)
|
rs786203220
|
|
|
NM_000465.4(BARD1):c.1457T>C (p.Leu486Ser)
|
rs1559410003
|
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
|
NM_000465.4(BARD1):c.1467C>T (p.Thr489=)
|
rs1694271621
|
|
|
NM_000465.4(BARD1):c.1470C>G (p.Thr490=)
|
rs758895846
|
|
|
NM_000465.4(BARD1):c.1479A>G (p.Gln493=)
|
rs375029767
|
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
|
NM_000465.4(BARD1):c.1549G>A (p.Gly517Arg)
|
rs1553619208
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.1620A>T (p.Lys540Asn)
|
rs747076015
|
|
|
NM_000465.4(BARD1):c.1644G>A (p.Lys548=)
|
rs1064796411
|
|
|
NM_000465.4(BARD1):c.1652C>T (p.Ser551Leu)
|
rs587781707
|
|
|
NM_000465.4(BARD1):c.165C>T (p.Asn55=)
|
rs1553625775
|
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
|
NM_000465.4(BARD1):c.1678-3C>G
|
rs1693089932
|
|
|
NM_000465.4(BARD1):c.1692G>A (p.Gln564=)
|
rs1168537193
|
|
|
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro)
|
rs786201905
|
|
|
NM_000465.4(BARD1):c.1772T>A (p.Ile591Asn)
|
rs879254291
|
|
|
NM_000465.4(BARD1):c.1819GTT[2] (p.Val609del)
|
rs927014703
|
|
|
NM_000465.4(BARD1):c.1840G>A (p.Val614Ile)
|
rs760541768
|
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
|
NM_000465.4(BARD1):c.1883G>A (p.Cys628Tyr)
|
rs1227794803
|
|
|
NM_000465.4(BARD1):c.1904-3C>T
|
rs876660360
|
|
|
NM_000465.4(BARD1):c.1912G>A (p.Ala638Thr)
|
rs756136465
|
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
|
NM_000465.4(BARD1):c.1986C>T (p.Leu662=)
|
rs1553612477
|
|
|
NM_000465.4(BARD1):c.2126C>T (p.Pro709Leu)
|
rs786203474
|
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
|
NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)
|
rs1553612117
|
|
|
NM_000465.4(BARD1):c.222T>C (p.Cys74=)
|
rs1168791343
|
|
|
NM_000465.4(BARD1):c.223G>T (p.Val75Leu)
|
|
|
|
NM_000465.4(BARD1):c.2292A>G (p.Ile764Met)
|
rs1692192973
|
|
|
NM_000465.4(BARD1):c.233G>C (p.Cys78Ser)
|
rs199780731
|
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
|
NM_000465.4(BARD1):c.27C>A (p.Asn9Lys)
|
rs1038616344
|
|
|
NM_000465.4(BARD1):c.282_291delinsT (p.Leu95_Ile97del)
|
rs1064795485
|
|
|
NM_000465.4(BARD1):c.365-3C>G
|
rs1695036239
|
|
|
NM_000465.4(BARD1):c.365-8del
|
rs776103948
|
|
|
NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)
|
rs1174079177
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
|
NM_000465.4(BARD1):c.566C>T (p.Ala189Val)
|
rs864622686
|
|
|
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr)
|
rs587782482
|
|
|
NM_000465.4(BARD1):c.615G>A (p.Lys205=)
|
rs766609646
|
|
|
NM_000465.4(BARD1):c.623del (p.Lys208fs)
|
|
|
|
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)
|
rs864622223
|
|
|
NM_000465.4(BARD1):c.689A>G (p.Asp230Gly)
|
rs751384676
|
|
|
NM_000465.4(BARD1):c.728G>A (p.Cys243Tyr)
|
rs767432527
|
|
|
NM_000465.4(BARD1):c.754C>A (p.Pro252Thr)
|
rs758368819
|
|
|
NM_000465.4(BARD1):c.792C>G (p.Gly264=)
|
|
|
|
NM_000465.4(BARD1):c.847G>A (p.Ala283Thr)
|
rs923851371
|
|
|
NM_000465.4(BARD1):c.897T>C (p.Thr299=)
|
rs559051241
|
|
|
NM_000465.4(BARD1):c.907G>A (p.Val303Ile)
|
rs375048835
|
|
|
NM_000465.4(BARD1):c.924T>G (p.Leu308=)
|
rs758559877
|
|
|
NM_000465.4(BARD1):c.946T>C (p.Leu316=)
|
rs587782325
|
|
|
NM_000465.4(BARD1):c.978T>A (p.Asn326Lys)
|
rs1553622318
|
|
|
NM_000465.4(BARD1):c.98C>T (p.Ala33Val)
|
rs1559454402
|
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
|
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
|
rs61750406
|
|
|
NM_000466.3(PEX1):c.129+1G>A
|
rs2116298327
|
|
|
NM_000466.3(PEX1):c.130-2A>T
|
rs1585260993
|
|
|
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
|
rs1792596054
|
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
|
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro)
|
rs773827098
|
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
|
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs)
|
rs1793076195
|
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
|
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs)
|
rs2116095487
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
|
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
|
rs61750430
|
|
|
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
|
|
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
|
NM_000466.3(PEX1):c.3833dup (p.Lys1279fs)
|
|
|
|
NM_000466.3(PEX1):c.472+5G>A
|
rs1792887658
|
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
|
NM_000466.3(PEX1):c.788_789del (p.Thr263fs)
|
rs61750404
|
|
|
NM_000474.4(TWIST1):c.260_271del (p.Ala87_Gly90del)
|
|
|
|
NM_000474.4(TWIST1):c.295A>G (p.Ser99Gly)
|
|
|
|
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)
|
rs386134262
|
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
|
NM_000478.6(ALPL):c.1024G>A (p.Glu342Lys)
|
|
|
|
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)
|
rs1553414563
|
|
|
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)
|
rs1553414611
|
|
|
NM_000478.6(ALPL):c.1171del (p.Arg391fs)
|
rs751404811
|
|
|
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)
|
rs1344601362
|
|
|
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu)
|
rs1644740176
|
|
|
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met)
|
rs2148192444
|
|
|
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)
|
rs1057516293
|
|
|
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)
|
rs768053120
|
|
|
NM_000478.6(ALPL):c.1361del (p.His454fs)
|
|
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
|
NM_000478.6(ALPL):c.1446C>A (p.His482Gln)
|
|
|
|
NM_000478.6(ALPL):c.1474del (p.Ala492fs)
|
rs1558558976
|
|
|
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser)
|
rs761079751
|
|
|
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
|
|
|
|
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)
|
rs772638759
|
|
|
NM_000478.6(ALPL):c.178G>C (p.Asp60His)
|
rs1644472852
|
|
|
NM_000478.6(ALPL):c.182-18C>T
|
|
|
|
NM_000478.6(ALPL):c.18del (p.Val7fs)
|
rs1558543066
|
|
|
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)
|
rs1644478533
|
|
|
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)
|
rs121918003
|
|
|
NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)
|
|
|
|
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)
|
rs1320839573
|
|
|
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
|
rs121918013
|
|
|
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)
|
rs1188506084
|
|
|
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)
|
rs747762186
|
|
|
NM_000478.6(ALPL):c.46_49del (p.Asn16fs)
|
rs1057516230
|
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
|
NM_000478.6(ALPL):c.499A>G (p.Thr167Ala)
|
rs1553412481
|
|
|
NM_000478.6(ALPL):c.512A>G (p.His171Arg)
|
|
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
|
NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)
|
|
|
|
NM_000478.6(ALPL):c.565G>A (p.Asp189Asn)
|
|
|
|
NM_000478.6(ALPL):c.577C>G (p.Pro193Ala)
|
|
|
|
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)
|
rs121918004
|
|
|
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)
|
rs1553413155
|
|
|
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)
|
rs769020799
|
|
|
NM_000478.6(ALPL):c.662del (p.Gly221fs)
|
rs769948289
|
|
|
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)
|
rs1223142821
|
|
|
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)
|
rs121918018
|
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
|
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)
|
rs765458125
|
|
|
NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)
|
|
|
|
NM_000478.6(ALPL):c.896T>C (p.Leu299Pro)
|
rs2148184404
|
|
|
NM_000478.6(ALPL):c.935TGG[3] (p.Val315del)
|
rs756329108
|
|
|
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)
|
rs1209147330
|
|
|
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)
|
rs753338851
|
|
|
NM_000479.5(AMH):c.1097C>T (p.Pro366Leu)
|
|
|
|
NM_000479.5(AMH):c.136C>G (p.Pro46Ala)
|
|
|
|
NM_000479.5(AMH):c.466G>A (p.Ala156Thr)
|
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
|
NM_000481.4(AMT):c.1106A>G (p.Tyr369Cys)
|
|
|
|
NM_000481.4(AMT):c.230C>A (p.Ser77Ter)
|
rs386833680
|
|
|
NM_000481.4(AMT):c.266T>G (p.Ile89Arg)
|
rs2049102715
|
|
|
NM_000481.4(AMT):c.381A>G (p.Leu127=)
|
rs2049077607
|
|
|
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs)
|
rs2107933735
|
|
|
NM_000481.4(AMT):c.383del (p.Asp128fs)
|
rs2107933731
|
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
|
NM_000481.4(AMT):c.850G>C (p.Val284Leu)
|
|
|
|
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
|
|
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
|
NM_000484.4(APP):c.-516C>G
|
|
|
|
NM_000484.4(APP):c.1224+16C>A
|
rs199585064
|
|
|
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
|
|
|
|
NM_000484.4(APP):c.1549A>C (p.Met517Leu)
|
|
|
|
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)
|
rs281865161
|
|
|
NM_000484.4(APP):c.2113C>G (p.Leu705Val)
|
rs63750921
|
|
|
NM_000484.4(APP):c.2212G>A (p.Val738Ile)
|
|
|
|
NM_000484.4(APP):c.272C>A (p.Pro91Gln)
|
|
|
|
NM_000484.4(APP):c.356-19T>G
|
|
|
|
NM_000484.4(APP):c.378C>T (p.Ala126=)
|
|
|
|
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
|
|
|
|
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)
|
rs527890624
|
|
|
NM_000486.6(AQP2):c.223T>G (p.Cys75Gly)
|
rs193922494
|
|
|
NM_000486.6(AQP2):c.785del (p.Pro262fs)
|
rs193922496
|
|
|
NM_000486.6(AQP2):c.85G>A (p.Gly29Ser)
|
|
|
|
NM_000487.6(ARSA):c.109_116del (p.Asp37fs)
|
rs753415648
|
|
|
NM_000487.6(ARSA):c.1108-1G>C
|
rs2146718041
|
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
|
NM_000487.6(ARSA):c.1198T>G (p.Phe400Val)
|
|
|
|
NM_000487.6(ARSA):c.1210+1G>T
|
rs80338820
|
|
|
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)
|
rs765905826
|
|
|
NM_000487.6(ARSA):c.1227_1228del (p.Thr410fs)
|
rs2082647866
|
|
|
NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs)
|
rs2146716979
|
|
|
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)
|
|
|
|
NM_000487.6(ARSA):c.1344dup (p.Gly449fs)
|
rs761555167
|
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
|
NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg)
|
|
|
|
NM_000487.6(ARSA):c.200del (p.Pro67fs)
|
rs2082697802
|
|
|
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)
|
rs1057516288
|
|
|
NM_000487.6(ARSA):c.218C>T (p.Pro73Leu)
|
|
|
|
NM_000487.6(ARSA):c.240dup (p.Gly81fs)
|
rs786204599
|
|
|
NM_000487.6(ARSA):c.244del (p.Arg82fs)
|
rs1569081823
|
|
|
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)
|
rs74315455
|
|
|
NM_000487.6(ARSA):c.302dup (p.Leu102fs)
|
rs761606317
|
|
|
NM_000487.6(ARSA):c.304del (p.Leu102fs)
|
rs786204673
|
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
|
NM_000487.6(ARSA):c.418dup (p.His140fs)
|
rs745884435
|
|
|
NM_000487.6(ARSA):c.465G>A (p.Gln155=)
|
rs199476377
|
|
|
NM_000487.6(ARSA):c.466G>C (p.Gly156Arg)
|
|
|
|
NM_000487.6(ARSA):c.495G>T (p.Pro165=)
|
rs145299072
|
|
|
NM_000487.6(ARSA):c.495_501del (p.Pro166fs)
|
rs1057517429
|
|
|
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
|
|
|
|
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr)
|
rs74315469
|
|
|
NM_000487.6(ARSA):c.731C>T (p.Ser244Leu)
|
|
|
|
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)
|
|
|
|
NM_000487.6(ARSA):c.854+1G>A
|
rs886041911
|
|
|
NM_000487.6(ARSA):c.869G>T (p.Arg290Leu)
|
|
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
|
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)
|
rs199476360
|
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
|
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)
|
rs199476390
|
|
|
NM_000487.6(ARSA):c.979_979+3del
|
rs1057516887
|
|
|
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)
|
rs398123419
|
|
|
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)
|
rs1449772752
|
|
|
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)
|
rs2071415045
|
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
|
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
|
|
|
|
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)
|
rs891068548
|
|
|
NM_000489.6(ATRX):c.3737-8C>T
|
rs2070862607
|
|
|
NM_000489.6(ATRX):c.4314_4316dup (p.Asn1438_Lys1439insAsn)
|
|
|
|
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)
|
rs141240580
|
|
|
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)
|
rs122445111
|
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
|
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)
|
rs2073481839
|
|
|
NM_000489.6(ATRX):c.862G>A (p.Glu288Lys)
|
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
|
NM_000492.3(CFTR):c.3376_3381delGAAGGA
|
rs1554392764
|
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
|
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
|
|
|
|
NM_000492.3(CFTR):c.[1210-16_1210-13dup;1210-6delT]
|
|
|
|
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
|
|
|
|
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
|
|
|
|
NM_000492.4(CFTR):c.-34C>T
|
rs756314710
|
|
|
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn)
|
rs1554381352
|
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
|
NM_000492.4(CFTR):c.1027T>C (p.Cys343Arg)
|
rs2116684275
|
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
|
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)
|
rs77932196
|
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
|
NM_000492.4(CFTR):c.1059A>C (p.Gln353His)
|
rs1800087
|
|
|
NM_000492.4(CFTR):c.1059A>G (p.Gln353=)
|
rs1800087
|
|
|
NM_000492.4(CFTR):c.1070C>T (p.Ala357Val)
|
|
|
|
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)
|
rs76879328
|
|
|
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)
|
rs397508152
|
|
|
NM_000492.4(CFTR):c.1076A>G (p.Gln359Arg)
|
rs397508153
|
|
|
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)
|
rs75053309
|
|
|
NM_000492.4(CFTR):c.1090T>C (p.Ser364Pro)
|
rs78909279
|
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
|
NM_000492.4(CFTR):c.1116+6G>A
|
|
|
|
NM_000492.4(CFTR):c.1117-135del
|
rs992074991
|
|
|
NM_000492.4(CFTR):c.1117-136_1117-132del
|
|
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
|
NM_000492.4(CFTR):c.1119T>G (p.Asp373Glu)
|
|
|
|
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
|
|
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
|
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)
|
rs193922498
|
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
|
NM_000492.4(CFTR):c.1163C>A (p.Thr388Lys)
|
|
|
|
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)
|
rs397508170
|
|
|
NM_000492.4(CFTR):c.1176A>G (p.Val392=)
|
rs542860881
|
|
|
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu)
|
rs1562892874
|
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
|
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)
|
rs1396443734
|
|
|
NM_000492.4(CFTR):c.1189del (p.Asn396_Val397insTer)
|
|
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
|
NM_000492.4(CFTR):c.1209+1G>A
|
rs397508176
|
|
|
NM_000492.4(CFTR):c.1210-15G>A
|
rs947648829
|
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
|
NM_000492.4(CFTR):c.1210-6del
|
rs1805177
|
|
|
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val)
|
rs1324302547
|
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
|
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer)
|
rs397508184
|
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
|
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
|
|
|
|
NM_000492.4(CFTR):c.1291A>G (p.Ser431Gly)
|
|
|
|
NM_000492.4(CFTR):c.1300T>C (p.Ser434Pro)
|
rs1799212931
|
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
|
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
|
NM_000492.4(CFTR):c.1307T>C (p.Leu436Pro)
|
rs1554382639
|
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
|
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs)
|
rs749854099
|
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
|
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys)
|
rs1798380222
|
|
|
NM_000492.4(CFTR):c.1351G>A (p.Gly451Arg)
|
|
|
|
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del)
|
rs397508194
|
|
|
NM_000492.4(CFTR):c.1360_1365delinsGCT (p.Leu454del)
|
|
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
|
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
|
|
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
|
NM_000492.4(CFTR):c.1385C>G (p.Ala462Gly)
|
rs1422519885
|
|
|
NM_000492.4(CFTR):c.1392+12G>C
|
|
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
|
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu)
|
rs886044297
|
|
|
NM_000492.4(CFTR):c.1437G>A (p.Glu479=)
|
rs754152822
|
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
|
NM_000492.4(CFTR):c.1451A>G (p.His484Arg)
|
rs1427892651
|
|
|
NM_000492.4(CFTR):c.1469del (p.Phe490fs)
|
rs775663783
|
|
|
NM_000492.4(CFTR):c.1472G>C (p.Cys491Ser)
|
|
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
|
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)
|
rs1554384382
|
|
|
NM_000492.4(CFTR):c.1492A>G (p.Met498Val)
|
rs1562898400
|
|
|
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala)
|
rs397508219
|
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
|
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)
|
rs397508224
|
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
|
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)
|
rs397508226
|
|
|
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter)
|
rs2115938731
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
|
NM_000492.4(CFTR):c.1564A>G (p.Lys522Glu)
|
rs1483458563
|
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
|
NM_000492.4(CFTR):c.1583A>G (p.Glu528Gly)
|
rs1562898548
|
|
|
NM_000492.4(CFTR):c.1584+53_1584+63dup
|
rs397508232
|
|
|
NM_000492.4(CFTR):c.1584G>C (p.Glu528Asp)
|
|
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
|
NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
|
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
|
|
|
|
NM_000492.4(CFTR):c.1590C>G (p.Ile530Met)
|
|
|
|
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu)
|
rs397508238
|
|
|
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
|
|
|
|
NM_000492.4(CFTR):c.164+14C>G
|
|
|
|
NM_000492.4(CFTR):c.164+1G>A
|
rs397508243
|
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
|
NM_000492.4(CFTR):c.164+3A>G
|
|
|
|
NM_000492.4(CFTR):c.164+4T>A
|
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
|
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)
|
rs397508247
|
|
|
NM_000492.4(CFTR):c.164G>T (p.Arg55Ile)
|
|
|
|
NM_000492.4(CFTR):c.165-1G>A
|
rs397508249
|
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
|
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
|
|
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
|
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)
|
rs397508260
|
|
|
NM_000492.4(CFTR):c.1679+18G>T
|
rs369294289
|
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|
|
NM_000492.4(CFTR):c.1680-853del
|
rs2116023034
|
|
|
NM_000492.4(CFTR):c.1680-877G>A
|
rs397508261
|
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
|
NM_000492.4(CFTR):c.1680-893T>C
|
rs1223503684
|
|
|
NM_000492.4(CFTR):c.1680-906_1680-905del
|
|
|
|
NM_000492.4(CFTR):c.1680-992dup
|
rs1791993504
|
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
|
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
|
|
|
|
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr)
|
rs1226880376
|
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
|
NM_000492.4(CFTR):c.168del (p.Glu56fs)
|
rs397508269
|
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
|
NM_000492.4(CFTR):c.1696G>A (p.Ala566Thr)
|
rs397508271
|
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
|
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
|
|
|
|
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)
|
rs397508279
|
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
|
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
|
|
|
|
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
|
rs121909025
|
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
|
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)
|
rs397508292
|
|
|
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)
|
rs397508295
|
|
|
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
|
|
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
|
NM_000492.4(CFTR):c.1766+2T>C
|
rs1554389062
|
|
|
NM_000492.4(CFTR):c.1767-81_1767-80del
|
rs1584812043
|
|
|
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
|
|
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
|
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
|
NM_000492.4(CFTR):c.1801del (p.Ile601fs)
|
rs1792031758
|
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
|
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)
|
rs1584776330
|
|
|
NM_000492.4(CFTR):c.1858C>T (p.His620Tyr)
|
|
|
|
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
|
|
|
|
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
|
|
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
|
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
|
|
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
|
NM_000492.4(CFTR):c.1950C>T (p.Phe650=)
|
rs200204024
|
|
|
NM_000492.4(CFTR):c.1970del (p.Arg657fs)
|
rs2116030992
|
|
|
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
|
|
|
|
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
|
|
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
|
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
|
|
|
|
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)
|
rs397508331
|
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
|
NM_000492.4(CFTR):c.2052A>C (p.Lys684Asn)
|
rs750642366
|
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
|
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly)
|
rs121908760
|
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
|
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser)
|
rs1003610229
|
|
|
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
|
|
|
|
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
|
|
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
|
NM_000492.4(CFTR):c.2194T>G (p.Leu732Val)
|
rs2116032346
|
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
|
NM_000492.4(CFTR):c.226T>C (p.Cys76Arg)
|
|
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
|
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)
|
rs397508368
|
|
|
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys)
|
rs397508369
|
|
|
NM_000492.4(CFTR):c.2373_2377delinsCC (p.Arg792_Lys793delinsGln)
|
|
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
|
NM_000492.4(CFTR):c.2402A>G (p.Asn801Ser)
|
rs1562908192
|
|
|
NM_000492.4(CFTR):c.2407A>T (p.Thr803Ser)
|
rs1792049314
|
|
|
NM_000492.4(CFTR):c.2419A>G (p.Ile807Val)
|
|
|
|
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)
|
rs387906359
|
|
|
NM_000492.4(CFTR):c.2437T>C (p.Ser813Pro)
|
|
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
|
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter)
|
rs1792051187
|
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
|
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
|
|
|
|
NM_000492.4(CFTR):c.2490+11A>G
|
rs1482271794
|
|
|
NM_000492.4(CFTR):c.2490+19G>C
|
rs368353825
|
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
|
NM_000492.4(CFTR):c.2493G>T (p.Glu831Asp)
|
rs1301647941
|
|
|
NM_000492.4(CFTR):c.24G>A (p.Lys8=)
|
rs1800071
|
|
|
NM_000492.4(CFTR):c.2519T>C (p.Ile840Thr)
|
|
|
|
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
|
|
|
|
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile)
|
rs1792097477
|
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
|
NM_000492.4(CFTR):c.2565C>G (p.Val855=)
|
rs1233428222
|
|
|
NM_000492.4(CFTR):c.2573del (p.Ser858fs)
|
rs1562908997
|
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
|
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)
|
rs397508400
|
|
|
NM_000492.4(CFTR):c.2601dup (p.Val868fs)
|
rs397508405
|
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
|
NM_000492.4(CFTR):c.2620-26_2620-25insG
|
rs776600589
|
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
|
NM_000492.4(CFTR):c.2657+12A>G
|
rs1792246845
|
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
|
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
|
|
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
|
NM_000492.4(CFTR):c.2709T>C (p.Tyr903=)
|
|
|
|
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)
|
rs121908750
|
|
|
NM_000492.4(CFTR):c.273+10240A>G
|
|
|
|
NM_000492.4(CFTR):c.273+10255del
|
rs193922507
|
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
|
NM_000492.4(CFTR):c.273+8T>A
|
rs1189108407
|
|
|
NM_000492.4(CFTR):c.2733T>G (p.Ser911Arg)
|
rs1562911534
|
|
|
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr)
|
rs1554390984
|
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
|
NM_000492.4(CFTR):c.273G>C (p.Gly91=)
|
rs773739166
|
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
|
NM_000492.4(CFTR):c.2752A>G (p.Ile918Val)
|
rs1267646551
|
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
|
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu)
|
rs193922508
|
|
|
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs)
|
rs397508431
|
|
|
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp)
|
rs193922509
|
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
|
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)
|
rs749784731
|
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
|
NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
|
|
|
|
NM_000492.4(CFTR):c.2825del (p.Ile942fs)
|
rs397508441
|
|
|
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr)
|
rs121909035
|
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
|
NM_000492.4(CFTR):c.2875G>A (p.Ala959Thr)
|
|
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
|
NM_000492.4(CFTR):c.2896del (p.Thr966fs)
|
rs397508451
|
|
|
NM_000492.4(CFTR):c.2899T>C (p.Leu967=)
|
rs1554391080
|
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
|
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)
|
rs397508453
|
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
|
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
|
NM_000492.4(CFTR):c.2936A>G (p.Asp979Gly)
|
rs397508462
|
|
|
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)
|
rs1554391473
|
|
|
NM_000492.4(CFTR):c.2971A>G (p.Ile991Val)
|
|
|
|
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)
|
rs758250836
|
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
|
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
|
|
|
|
NM_000492.4(CFTR):c.2982_2988+2del
|
rs1554391489
|
|
|
NM_000492.4(CFTR):c.2988+1186_2988+1194del
|
rs534559351
|
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
|
NM_000492.4(CFTR):c.2988+3A>G
|
rs2116069964
|
|
|
NM_000492.4(CFTR):c.2988+47dup
|
rs149902649
|
|
|
NM_000492.4(CFTR):c.2988+4T>C
|
|
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
|
NM_000492.4(CFTR):c.2989-2A>G
|
rs193922515
|
|
|
NM_000492.4(CFTR):c.2989-2A>T
|
rs193922515
|
|
|
NM_000492.4(CFTR):c.2993del (p.Leu998fs)
|
rs1057516415
|
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
|
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)
|
rs978796108
|
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
|
NM_000492.4(CFTR):c.3039C>G (p.Pro1013=)
|
rs1562914129
|
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
|
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)
|
rs144441835
|
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
|
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)
|
rs756219310
|
|
|
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
|
|
|
|
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
|
|
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
|
NM_000492.4(CFTR):c.3108C>G (p.Thr1036=)
|
rs773627677
|
|
|
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)
|
rs1584821736
|
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
|
NM_000492.4(CFTR):c.3139+39del
|
rs1554392063
|
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
|
NM_000492.4(CFTR):c.3140-17A>G
|
rs1383455542
|
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
|
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu)
|
rs1417435640
|
|
|
NM_000492.4(CFTR):c.3167T>C (p.Val1056Ala)
|
rs2116084150
|
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
|
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro)
|
rs79635528
|
|
|
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)
|
rs373043500
|
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
|
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)
|
rs121908761
|
|
|
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
|
|
|
|
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
|
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
|
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)
|
rs397508532
|
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
|
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)
|
rs397508536
|
|
|
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=)
|
rs144135742
|
|
|
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser)
|
rs1792393459
|
|
|
NM_000492.4(CFTR):c.3352T>C (p.Ser1118Pro)
|
|
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
|
NM_000492.4(CFTR):c.3356T>C (p.Ile1119Thr)
|
rs1562914851
|
|
|
NM_000492.4(CFTR):c.3367+196C>T
|
rs28449716
|
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
|
NM_000492.4(CFTR):c.3367+214_3367+259del
|
rs149975806
|
|
|
NM_000492.4(CFTR):c.3367+222_3367+223insGT
|
rs2116087630
|
|
|
NM_000492.4(CFTR):c.3367+238_3367+259del
|
rs1283255059
|
|
|
NM_000492.4(CFTR):c.3368-121_3368-118dup
|
|
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
|
NM_000492.4(CFTR):c.3368-78dup
|
|
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
|
NM_000492.4(CFTR):c.340_342del (p.Lys114del)
|
rs1554379808
|
|
|
NM_000492.4(CFTR):c.3457G>C (p.Val1153Leu)
|
|
|
|
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)
|
rs397508569
|
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
|
NM_000492.4(CFTR):c.3469-3C>A
|
|
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
|
NM_000492.4(CFTR):c.3480G>A (p.Val1160=)
|
rs1298788637
|
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
|
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
|
rs1057516970
|
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
|
NM_000492.4(CFTR):c.3530A>G (p.Lys1177Arg)
|
|
|
|
NM_000492.4(CFTR):c.3540del (p.Lys1180fs)
|
rs397508580
|
|
|
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)
|
rs397508581
|
|
|
NM_000492.4(CFTR):c.354dup (p.Ile119fs)
|
|
|
|
NM_000492.4(CFTR):c.3551A>T (p.Asn1184Ile)
|
|
|
|
NM_000492.4(CFTR):c.3577A>G (p.Ile1193Val)
|
rs1562919375
|
|
|
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu)
|
rs765133036
|
|
|
NM_000492.4(CFTR):c.3601G>T (p.Asp1201Tyr)
|
rs1182767623
|
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
|
NM_000492.4(CFTR):c.3682G>A (p.Glu1228Lys)
|
rs759116351
|
|
|
NM_000492.4(CFTR):c.3683A>G (p.Glu1228Gly)
|
|
|
|
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
|
|
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
|
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)
|
rs193922519
|
|
|
NM_000492.4(CFTR):c.3717+1G>A
|
rs750558115
|
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
|
NM_000492.4(CFTR):c.3718-1G>A
|
rs387906369
|
|
|
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT
|
rs397515289
|
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
|
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)
|
rs267606723
|
|
|
NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
|
rs797045159
|
|
|
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)
|
rs397508604
|
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
|
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)
|
rs1584837090
|
|
|
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
|
|
|
|
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=)
|
rs1800129
|
|
|
NM_000492.4(CFTR):c.3809A>G (p.Asp1270Gly)
|
|
|
|
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup)
|
rs193922521
|
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
|
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)
|
rs1792935893
|
|
|
NM_000492.4(CFTR):c.3851A>G (p.Lys1284Arg)
|
rs2116167703
|
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
|
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys)
|
rs121909028
|
|
|
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg)
|
rs1792936385
|
|
|
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
|
|
|
|
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)
|
rs397508620
|
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
|
NM_000492.4(CFTR):c.3873+28dup
|
|
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
|
NM_000492.4(CFTR):c.3873+5G>A
|
|
|
|
NM_000492.4(CFTR):c.3874-103del
|
rs1282290289
|
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
|
NM_000492.4(CFTR):c.3874-2A>C
|
rs1554396384
|
|
|
NM_000492.4(CFTR):c.3874-2A>G
|
rs1554396384
|
|
|
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs)
|
rs1793108213
|
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
|
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala)
|
rs193922522
|
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
|
NM_000492.4(CFTR):c.3898T>C (p.Phe1300Leu)
|
|
|
|
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr)
|
rs397508636
|
|
|
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
|
rs397508637
|
|
|
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu)
|
rs397508640
|
|
|
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys)
|
rs121909026
|
|
|
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
|
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met)
|
rs1554396417
|
|
|
NM_000492.4(CFTR):c.3946T>C (p.Trp1316Arg)
|
|
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
|
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs)
|
rs193922523
|
|
|
NM_000492.4(CFTR):c.3963+15T>C
|
rs1269502695
|
|
|
NM_000492.4(CFTR):c.3963+5G>C
|
|
|
|
NM_000492.4(CFTR):c.3964-18_3964-16delinsCAG
|
|
|
|
NM_000492.4(CFTR):c.3964-3C>A
|
|
|
|
NM_000492.4(CFTR):c.396del (p.Ile132fs)
|
rs1798854379
|
|
|
NM_000492.4(CFTR):c.3970C>T (p.Leu1324Phe)
|
|
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
|
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp)
|
rs193922524
|
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
|
NM_000492.4(CFTR):c.4046del (p.Gly1349fs)
|
rs1793342111
|
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
|
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr)
|
rs755993775
|
|
|
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=)
|
rs1449323479
|
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
|
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn)
|
rs777892053
|
|
|
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)
|
rs397508669
|
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
|
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr)
|
rs397508676
|
|
|
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=)
|
rs1793345960
|
|
|
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly)
|
rs115147093
|
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
|
NM_000492.4(CFTR):c.4136+14G>A
|
rs1389376517
|
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
|
NM_000492.4(CFTR):c.4137-12T>C
|
|
|
|
NM_000492.4(CFTR):c.4137-9C>T
|
rs1562929122
|
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
|
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
|
|
|
|
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=)
|
rs1793360215
|
|
|
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)
|
rs397508702
|
|
|
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=)
|
rs541737583
|
|
|
NM_000492.4(CFTR):c.4242+19A>C
|
rs1554397608
|
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
|
NM_000492.4(CFTR):c.4242+20C>T
|
rs1229413013
|
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
|
NM_000492.4(CFTR):c.4242+5G>A
|
rs1562929196
|
|
|
NM_000492.4(CFTR):c.4243-16A>G
|
rs780125251
|
|
|
NM_000492.4(CFTR):c.4243-35del
|
rs193922527
|
|
|
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
|
NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)
|
|
|
|
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)
|
rs373172017
|
|
|
NM_000492.4(CFTR):c.426T>C (p.Ile142=)
|
rs1554379864
|
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
|
NM_000492.4(CFTR):c.4273G>A (p.Asp1425Asn)
|
rs867990936
|
|
|
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)
|
rs762847468
|
|
|
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)
|
rs193922528
|
|
|
NM_000492.4(CFTR):c.4293G>A (p.Leu1431=)
|
rs1562929564
|
|
|
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)
|
rs750559671
|
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
|
NM_000492.4(CFTR):c.4307_4320del (p.Leu1436fs)
|
rs1562929573
|
|
|
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
|
|
|
|
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)
|
rs397508716
|
|
|
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)
|
rs753173837
|
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
|
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
|
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
|
|
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys)
|
rs397508730
|
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
|
NM_000492.4(CFTR):c.489+43_580-354del
|
|
|
|
NM_000492.4(CFTR):c.489+4A>G
|
|
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
|
NM_000492.4(CFTR):c.489G>A (p.Lys163=)
|
rs397508733
|
|
|
NM_000492.4(CFTR):c.490A>C (p.Thr164Pro)
|
|
|
|
NM_000492.4(CFTR):c.495A>C (p.Leu165Phe)
|
rs2116674883
|
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
|
NM_000492.4(CFTR):c.50del (p.Phe17fs)
|
rs397508714
|
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
|
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
|
|
|
|
NM_000492.4(CFTR):c.53+34_53+35del
|
rs762372419
|
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
|
NM_000492.4(CFTR):c.54-589A>G
|
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
|
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
|
|
|
|
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro)
|
rs766640075
|
|
|
NM_000492.4(CFTR):c.575A>T (p.Asp192Val)
|
rs397508758
|
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
|
NM_000492.4(CFTR):c.579+4T>C
|
|
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
|
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)
|
rs376008630
|
|
|
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)
|
rs193922529
|
|
|
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)
|
rs193922529
|
|
|
NM_000492.4(CFTR):c.593C>T (p.Ala198Val)
|
rs73215910
|
|
|
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)
|
rs1797976959
|
|
|
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser)
|
rs748026786
|
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
|
NM_000492.4(CFTR):c.662del (p.Ala221fs)
|
rs2116676645
|
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
|
NM_000492.4(CFTR):c.712G>C (p.Ala238Pro)
|
rs1413926814
|
|
|
NM_000492.4(CFTR):c.713C>T (p.Ala238Val)
|
rs397508786
|
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
|
NM_000492.4(CFTR):c.743+4G>T
|
rs193922530
|
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
|
NM_000492.4(CFTR):c.744-11T>C
|
rs1554380747
|
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
|
NM_000492.4(CFTR):c.744-34A>T
|
rs897890349
|
|
|
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
|
|
|
|
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)
|
rs1343896905
|
|
|
NM_000492.4(CFTR):c.764del (p.Ile255fs)
|
|
|
|
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
|
|
|
|
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
|
rs397508796
|
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
|
|
NM_000492.4(CFTR):c.80G>T (p.Gly27Val)
|
rs397508797
|
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
|
NM_000492.4(CFTR):c.869+3A>C
|
rs1554380828
|
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
|
NM_000492.4(CFTR):c.870-3T>G
|
rs397508810
|
|
|
NM_000492.4(CFTR):c.870-4A>G
|
rs755173693
|
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
|
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys)
|
rs1562892143
|
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
|
NM_000492.4(CFTR):c.941G>T (p.Gly314Val)
|
rs75763344
|
|
|
NM_000492.4(CFTR):c.947T>A (p.Phe316Tyr)
|
rs779201407
|
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
|
NM_000492.4(CFTR):c.950T>C (p.Val317Ala)
|
rs1204521684
|
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|
|
NM_000492.4(CFTR):c.[1727G>C;2002C>T]
|
|
|
|
NM_000492.4(CFTR):c.[220C>T;3808G>A]
|
|
|
|
NM_000493.4(COL10A1):c.1055C>T (p.Pro352Leu)
|
|
|
|
NM_000493.4(COL10A1):c.1453dup (p.Leu485fs)
|
|
|
|
NM_000493.4(COL10A1):c.499C>T (p.Pro167Ser)
|
|
|
|
NM_000494.4(COL17A1):c.2947+13A>C
|
|
|
|
NM_000494.4(COL17A1):c.3542G>C (p.Gly1181Ala)
|
|
|
|
NM_000494.4(COL17A1):c.3670G>A (p.Gly1224Arg)
|
|
|
|
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)
|
rs193922535
|
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
|
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)
|
rs754432887
|
|
|
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)
|
rs1447069098
|
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
|
NM_000497.4(CYP11B1):c.1361G>C (p.Arg454Pro)
|
|
|
|
NM_000497.4(CYP11B1):c.1398+5G>C
|
rs1563867837
|
|
|
NM_000497.4(CYP11B1):c.1398+6C>G
|
|
|
|
NM_000497.4(CYP11B1):c.199del (p.Glu67fs)
|
rs780398462
|
|
|
NM_000497.4(CYP11B1):c.239+156C>T
|
|
|
|
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA
|
rs1586561494
|
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
|
NM_000497.4(CYP11B1):c.396-2A>G
|
|
|
|
NM_000497.4(CYP11B1):c.595+1G>C
|
|
|
|
NM_000497.4(CYP11B1):c.596-2A>G
|
|
|
|
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)
|
rs1327055239
|
|
|
NM_000497.4(CYP11B1):c.799+2T>C
|
rs193922541
|
|
|
NM_000497.4(CYP11B1):c.954+3C>G
|
|
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
|
NM_000498.3(CYP11B2):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_000498.3(CYP11B2):c.945C>G (p.Ser315Arg)
|
|
|
|
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
|
|
|
|
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
|
|
|
|
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr)
|
rs528524868
|
|
|
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
|
|
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
|
NM_000500.9(CYP21A2):c.1205C>T (p.Pro402Leu)
|
|
|
|
NM_000500.9(CYP21A2):c.1213T>C (p.Phe405Leu)
|
|
|
|
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)
|
rs193922543
|
|
|
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
|
|
|
|
NM_000500.9(CYP21A2):c.1299G>A (p.Pro433=)
|
|
|
|
NM_000500.9(CYP21A2):c.1385T>C (p.Leu462Pro)
|
|
|
|
NM_000500.9(CYP21A2):c.22C>A (p.Leu8Met)
|
|
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
|
NM_000500.9(CYP21A2):c.601A>G (p.Thr201Ala)
|
|
|
|
NM_000500.9(CYP21A2):c.738+12_738+13inv
|
|
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
|
NM_000500.9(CYP21A2):c.931C>A (p.His311Asn)
|
|
|
|
NM_000500.9(CYP21A2):c.[710T>A;713T>A]
|
|
|
|
NM_000500.9(CYP21A2):c.[710T>A;719T>A]
|
|
|
|
NM_000500.9(CYP21A2):c.[713T>A;719T>A]
|
|
|
|
NM_000501.4(ELN):c.1245dup (p.Gly416fs)
|
rs1795220933
|
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
|
NM_000501.4(ELN):c.1918+3G>A
|
|
|
|
NM_000503.6(EYA1):c.1211T>G (p.Phe404Cys)
|
|
|
|
NM_000505.4(F12):c.1697del (p.Pro566fs)
|
|
|
|
NM_000506.4(F2):c.*108C>T
|
|
|
|
NM_000506.5(F2):c.*65_*69dup
|
|
|
|
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
|
|
|
|
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)
|
rs1057517733
|
|
|
NM_000512.5(GALNS):c.1003-3C>G
|
rs760239741
|
|
|
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)
|
rs794726887
|
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
|
NM_000512.5(GALNS):c.1096C>T (p.Leu366Phe)
|
|
|
|
NM_000512.5(GALNS):c.1142del (p.Pro381fs)
|
rs746086649
|
|
|
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)
|
rs191519947
|
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
|
NM_000512.5(GALNS):c.169C>T (p.Pro57Ser)
|
|
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
|
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)
|
rs727503946
|
|
|
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
|
rs1444754604
|
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
|
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
|
rs1301198698
|
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
|
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)
|
rs118204449
|
|
|
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
|
|
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
|
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)
|
rs61742258
|
|
|
NM_000512.5(GALNS):c.806T>C (p.Leu269Pro)
|
|
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
|
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)
|
rs1567530426
|
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
|
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp)
|
rs1314520034
|
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
|
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser)
|
rs759590432
|
|
|
NM_000515.5(GH1):c.-5C>T
|
|
|
|
NM_000515.5(GH1):c.-5_-4delinsTG
|
|
|
|
NM_000515.5(GH1):c.117T>C (p.Ala39=)
|
|
|
|
NM_000515.5(GH1):c.172-1G>A
|
|
|
|
NM_000515.5(GH1):c.291+1G>C
|
rs71640277
|
|
|
NM_000515.5(GH1):c.615C>G (p.Ile205Met)
|
rs148474991
|
|
|
NM_000515.5(GH1):c.7A>C (p.Thr3Pro)
|
rs2001345
|
|
|
NM_000516.7(GNAS):c.1100_1132delinsATGTC (p.Val367fs)
|
|
|
|
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr)
|
rs41412046
|
|
|
NM_000517.6(HBA2):c.-3_-2del
|
|
|
|
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)
|
rs281864846
|
|
|
NM_000517.6(HBA2):c.301-13_301-12insGGCCCCC
|
rs778442461
|
|
|
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC
|
rs1596570272
|
|
|
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)
|
rs63750010
|
|
|
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)
|
rs33987053
|
|
|
NM_000517.6(HBA2):c.369C>A (p.His123Gln)
|
|
|
|
NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)
|
|
|
|
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)
|
|
|
|
NM_000517.6(HBA2):c.46G>A (p.Gly16Ser)
|
|
|
|
NM_000517.6(HBA2):c.77G>A (p.Gly26Asp)
|
|
|
|
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)
|
rs41467944
|
|
|
NM_000518.4(HBB):c.-102G>T
|
rs1554918277
|
|
|
NM_000518.4(HBB):c.-121C>T
|
rs281864518
|
|
|
NM_000518.4(HBB):c.-122T>G
|
rs1272414751
|
|
|
NM_000518.4(HBB):c.-134A>G
|
rs1847592568
|
|
|
NM_000518.4(HBB):c.-136C>A
|
|
|
|
NM_000518.4(HBB):c.-136C>G
|
rs33994806
|
|
|
NM_000518.4(HBB):c.-137C>T
|
rs33941377
|
|
|
NM_000518.4(HBB):c.-146G>T
|
|
|
|
NM_000518.4(HBB):c.-150T>A
|
rs1448799110
|
|
|
NM_000518.4(HBB):c.-152C>A
|
|
|
|
NM_000518.4(HBB):c.-73C>T
|
rs1554918265
|
|
|
NM_000518.4(HBB):c.-77_-76delAA
|
rs63750953
|
|
|
NM_000518.4(HBB):c.-80T>A
|
rs33980857
|
|
|
NM_000518.4(HBB):c.-82C>A
|
rs34500389
|
|
|
NM_000518.4(HBB):c.-83G>A
|
|
|
|
NM_000518.4(HBB):c.-92C>G
|
rs397515291
|
|
|
NM_000518.4(HBB):c.-92C>T
|
rs397515291
|
|
|
NM_000518.4(HBB):c.125T>C (p.Phe42Ser)
|
rs33926796
|
|
|
NM_000518.4(HBB):c.137T>C (p.Phe46Ser)
|
rs33978338
|
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
|
NM_000518.4(HBB):c.191A>G (p.His64Arg)
|
rs33985544
|
|
|
NM_000518.4(HBB):c.20A>C (p.Glu7Ala)
|
rs334
|
|
|
NM_000518.4(HBB):c.232C>T (p.His78Tyr)
|
rs33991294
|
|
|
NM_000518.4(HBB):c.263C>A (p.Thr88Lys)
|
rs33993568
|
|
|
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)
|
rs33913712
|
|
|
NM_000518.4(HBB):c.283G>A (p.Asp95Asn)
|
rs33959340
|
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
|
NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA
|
rs1847513733
|
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
|
NM_000518.4(HBB):c.374C>T (p.Pro125Leu)
|
rs33983276
|
|
|
NM_000518.4(HBB):c.386C>T (p.Ala129Val)
|
rs33957286
|
|
|
NM_000518.4(HBB):c.422C>T (p.Ala141Val)
|
rs33927093
|
|
|
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)
|
rs33935445
|
|
|
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)
|
rs33959855
|
|
|
NM_000518.4(HBB):c.86T>C (p.Leu29Pro)
|
rs33916412
|
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
|
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
|
|
|
|
NM_000518.5(HBB):c.*102C>T
|
rs1554917429
|
|
|
NM_000518.5(HBB):c.*110_*111del
|
rs63750205
|
|
|
NM_000518.5(HBB):c.*112A>T
|
|
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
|
NM_000518.5(HBB):c.*115A>C
|
rs1554917417
|
|
|
NM_000518.5(HBB):c.*116dup
|
rs281864532
|
|
|
NM_000518.5(HBB):c.*117C>T
|
rs2133585664
|
|
|
NM_000518.5(HBB):c.*33G>T
|
rs1364427740
|
|
|
NM_000518.5(HBB):c.*37C>G
|
|
|
|
NM_000518.5(HBB):c.*47C>G
|
rs1158183534
|
|
|
NM_000518.5(HBB):c.*47C>T
|
rs1158183534
|
|
|
NM_000518.5(HBB):c.*48T>C
|
rs759337708
|
|
|
NM_000518.5(HBB):c.*51G>A
|
|
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
|
NM_000518.5(HBB):c.*57C>G
|
|
|
|
NM_000518.5(HBB):c.*5G>C
|
|
|
|
NM_000518.5(HBB):c.*67G>T
|
rs1554917441
|
|
|
NM_000518.5(HBB):c.*6C>G
|
rs34809925
|
|
|
NM_000518.5(HBB):c.-10A>G
|
rs747545656
|
|
|
NM_000518.5(HBB):c.-10_-7del
|
rs34196559
|
|
|
NM_000518.5(HBB):c.-12C>T
|
|
|
|
NM_000518.5(HBB):c.-130T>C
|
|
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
|
NM_000518.5(HBB):c.-140C>G
|
rs34999973
|
|
|
NM_000518.5(HBB):c.-142C>T
|
rs34883338
|
|
|
NM_000518.5(HBB):c.-18C>G
|
rs34135787
|
|
|
NM_000518.5(HBB):c.-23A>G
|
rs1010004981
|
|
|
NM_000518.5(HBB):c.-29G>A
|
rs34704828
|
|
|
NM_000518.5(HBB):c.-50A>C
|
rs34305195
|
|
|
NM_000518.5(HBB):c.-78A>C
|
rs33931746
|
|
|
NM_000518.5(HBB):c.-80T>C
|
rs33980857
|
|
|
NM_000518.5(HBB):c.-81A>G
|
rs33981098
|
|
|
NM_000518.5(HBB):c.-82C>T
|
rs34500389
|
|
|
NM_000518.5(HBB):c.-8C>G
|
rs1319747765
|
|
|
NM_000518.5(HBB):c.100G>A (p.Val34Met)
|
rs1141370
|
|
|
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)
|
rs33982568
|
|
|
NM_000518.5(HBB):c.10C>A (p.Leu4Met)
|
rs34126315
|
|
|
NM_000518.5(HBB):c.110del (p.Pro37fs)
|
rs267607297
|
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
|
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer)
|
rs63750099
|
|
|
NM_000518.5(HBB):c.116C>G (p.Thr39Ser)
|
|
|
|
NM_000518.5(HBB):c.117C>T (p.Thr39=)
|
rs1847565822
|
|
|
NM_000518.5(HBB):c.118_121dup (p.Arg41fs)
|
|
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
|
NM_000518.5(HBB):c.126dup (p.Phe43fs)
|
rs2133588679
|
|
|
NM_000518.5(HBB):c.129T>C (p.Phe43=)
|
rs1554917971
|
|
|
NM_000518.5(HBB):c.129dup (p.Glu44Ter)
|
rs33979901
|
|
|
NM_000518.5(HBB):c.12G>A (p.Leu4=)
|
|
|
|
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)
|
rs33922842
|
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
|
NM_000518.5(HBB):c.138del (p.Phe46fs)
|
rs35133315
|
|
|
NM_000518.5(HBB):c.141G>A (p.Gly47=)
|
rs1554917961
|
|
|
NM_000518.5(HBB):c.143_146dup (p.Thr51fs)
|
rs35619054
|
|
|
NM_000518.5(HBB):c.143dup (p.Asp48fs)
|
rs35894115
|
|
|
NM_000518.5(HBB):c.155del (p.Pro52fs)
|
rs63750128
|
|
|
NM_000518.5(HBB):c.15_19delinsATCTT (p.Pro6_Glu7delinsSerTer)
|
|
|
|
NM_000518.5(HBB):c.164T>C (p.Val55Ala)
|
rs34037627
|
|
|
NM_000518.5(HBB):c.167T>C (p.Met56Thr)
|
rs35094013
|
|
|
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)
|
rs33935983
|
|
|
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)
|
rs33912272
|
|
|
NM_000518.5(HBB):c.176C>G (p.Pro59Arg)
|
rs33991472
|
|
|
NM_000518.5(HBB):c.176del (p.Pro59fs)
|
rs35395625
|
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
|
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)
|
rs33995148
|
|
|
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)
|
rs34446260
|
|
|
NM_000518.5(HBB):c.190C>T (p.His64Tyr)
|
rs33922873
|
|
|
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)
|
rs193922552
|
|
|
NM_000518.5(HBB):c.1A>C (p.Met1Leu)
|
rs34563000
|
|
|
NM_000518.5(HBB):c.1A>G (p.Met1Val)
|
rs34563000
|
|
|
NM_000518.5(HBB):c.201del (p.Val68fs)
|
rs193922553
|
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
|
NM_000518.5(HBB):c.21G>A (p.Glu7=)
|
rs1589893600
|
|
|
NM_000518.5(HBB):c.226del (p.Leu76fs)
|
rs34218908
|
|
|
NM_000518.5(HBB):c.230del (p.Ala77fs)
|
rs281864901
|
|
|
NM_000518.5(HBB):c.233_234del (p.His78fs)
|
rs2133588176
|
|
|
NM_000518.5(HBB):c.235del (p.Leu79fs)
|
rs281865475
|
|
|
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)
|
rs63750519
|
|
|
NM_000518.5(HBB):c.246C>G (p.Leu82=)
|
rs145669504
|
|
|
NM_000518.5(HBB):c.251G>A (p.Gly84Asp)
|
rs1803195
|
|
|
NM_000518.5(HBB):c.251del (p.Gly84fs)
|
rs193922555
|
|
|
NM_000518.5(HBB):c.259G>T (p.Ala87Ser)
|
|
|
|
NM_000518.5(HBB):c.270T>C (p.Ser90=)
|
rs1554917814
|
|
|
NM_000518.5(HBB):c.271G>T (p.Glu91Ter)
|
rs33913712
|
|
|
NM_000518.5(HBB):c.273G>C (p.Glu91Asp)
|
rs35002698
|
|
|
NM_000518.5(HBB):c.276G>T (p.Leu92=)
|
|
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
|
NM_000518.5(HBB):c.282T>G (p.Cys94Trp)
|
rs1847552343
|
|
|
NM_000518.5(HBB):c.287dup (p.Leu97fs)
|
rs34937014
|
|
|
NM_000518.5(HBB):c.288G>A (p.Lys96=)
|
rs36038739
|
|
|
NM_000518.5(HBB):c.292_295dup (p.Val99fs)
|
rs1564874901
|
|
|
NM_000518.5(HBB):c.295G>A (p.Val99Met)
|
rs33933298
|
|
|
NM_000518.5(HBB):c.2T>A (p.Met1Lys)
|
rs33941849
|
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
|
NM_000518.5(HBB):c.2T>G (p.Met1Arg)
|
rs33941849
|
|
|
NM_000518.5(HBB):c.300T>A (p.Asp100Glu)
|
rs34013622
|
|
|
NM_000518.5(HBB):c.30dup (p.Ala11fs)
|
rs34548294
|
|
|
NM_000518.5(HBB):c.315+1G>T
|
rs33945777
|
|
|
NM_000518.5(HBB):c.315+2T>G
|
rs63750283
|
|
|
NM_000518.5(HBB):c.315+2del
|
rs1564874813
|
|
|
NM_000518.5(HBB):c.315+5G>A
|
|
|
|
NM_000518.5(HBB):c.315+9A>G
|
rs1277597344
|
|
|
NM_000518.5(HBB):c.315G>A (p.Arg105=)
|
|
|
|
NM_000518.5(HBB):c.316-106C>A
|
|
|
|
NM_000518.5(HBB):c.316-109C>T
|
rs1554917650
|
|
|
NM_000518.5(HBB):c.316-112A>G
|
rs1847535052
|
|
|
NM_000518.5(HBB):c.316-114C>T
|
rs1003790835
|
|
|
NM_000518.5(HBB):c.316-128G>C
|
rs1291160651
|
|
|
NM_000518.5(HBB):c.316-141G>A
|
rs1011427406
|
|
|
NM_000518.5(HBB):c.316-146T>G
|
rs35328027
|
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
|
NM_000518.5(HBB):c.316-171_316-170del
|
rs1564874493
|
|
|
NM_000518.5(HBB):c.316-192G>A
|
rs1564874512
|
|
|
NM_000518.5(HBB):c.316-194T>C
|
|
|
|
NM_000518.5(HBB):c.316-198G>A
|
rs547258651
|
|
|
NM_000518.5(HBB):c.316-1G>A
|
rs33952266
|
|
|
NM_000518.5(HBB):c.316-1G>T
|
rs33952266
|
|
|
NM_000518.5(HBB):c.316-20C>T
|
rs756657263
|
|
|
NM_000518.5(HBB):c.316-27T>G
|
rs1280140490
|
|
|
NM_000518.5(HBB):c.316-28G>C
|
rs771736852
|
|
|
NM_000518.5(HBB):c.316-2A>C
|
rs33914668
|
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
|
NM_000518.5(HBB):c.316-42del
|
rs746631999
|
|
|
NM_000518.5(HBB):c.316-44C>G
|
|
|
|
NM_000518.5(HBB):c.316-46G>A
|
rs1554917642
|
|
|
NM_000518.5(HBB):c.316-60C>T
|
rs1847533961
|
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
|
NM_000518.5(HBB):c.316-85A>G
|
rs1847534399
|
|
|
NM_000518.5(HBB):c.316-96G>A
|
rs193922561
|
|
|
NM_000518.5(HBB):c.316-99del
|
rs1257175417
|
|
|
NM_000518.5(HBB):c.31G>A (p.Ala11Thr)
|
rs63750717
|
|
|
NM_000518.5(HBB):c.323G>T (p.Gly108Val)
|
rs35519485
|
|
|
NM_000518.5(HBB):c.323dup (p.Asn109fs)
|
rs35225141
|
|
|
NM_000518.5(HBB):c.328G>A (p.Val110Met)
|
rs33969677
|
|
|
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)
|
rs36015961
|
|
|
NM_000518.5(HBB):c.345_348dup (p.His117fs)
|
|
|
|
NM_000518.5(HBB):c.351T>C (p.His117=)
|
rs35209776
|
|
|
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)
|
rs34726542
|
|
|
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)
|
rs33946267
|
|
|
NM_000518.5(HBB):c.36del (p.Thr13fs)
|
rs34856846
|
|
|
NM_000518.5(HBB):c.371_378del (p.Thr124fs)
|
rs1554917561
|
|
|
NM_000518.5(HBB):c.372C>A (p.Thr124=)
|
rs780307221
|
|
|
NM_000518.5(HBB):c.372C>G (p.Thr124=)
|
|
|
|
NM_000518.5(HBB):c.372C>T (p.Thr124=)
|
rs780307221
|
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
|
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
|
|
|
|
NM_000518.5(HBB):c.394C>G (p.Gln132Glu)
|
rs33910209
|
|
|
NM_000518.5(HBB):c.396_397del (p.Lys133fs)
|
rs63750320
|
|
|
NM_000518.5(HBB):c.397A>C (p.Lys133Gln)
|
rs33953406
|
|
|
NM_000518.5(HBB):c.39T>C (p.Thr13=)
|
rs1554918207
|
|
|
NM_000518.5(HBB):c.3G>A (p.Met1Ile)
|
rs33930702
|
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
|
NM_000518.5(HBB):c.407C>T (p.Ala136Val)
|
|
|
|
NM_000518.5(HBB):c.420T>G (p.Asn140Lys)
|
|
|
|
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)
|
rs33949869
|
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
|
NM_000518.5(HBB):c.45dup (p.Trp16fs)
|
rs35383398
|
|
|
NM_000518.5(HBB):c.46del (p.Trp16fs)
|
rs63749960
|
|
|
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
|
rs63750783
|
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
|
NM_000518.5(HBB):c.56T>G (p.Val19Gly)
|
rs35382661
|
|
|
NM_000518.5(HBB):c.57G>A (p.Val19=)
|
rs1554918177
|
|
|
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
|
rs33972047
|
|
|
NM_000518.5(HBB):c.5T>C (p.Val2Ala)
|
rs33949930
|
|
|
NM_000518.5(HBB):c.64dup (p.Asp22fs)
|
rs1554918165
|
|
|
NM_000518.5(HBB):c.68_74del (p.Glu23fs)
|
rs281864898
|
|
|
NM_000518.5(HBB):c.6G>A (p.Val2=)
|
rs1349384278
|
|
|
NM_000518.5(HBB):c.70G>C (p.Val24Leu)
|
rs33929459
|
|
|
NM_000518.5(HBB):c.76_92+27del
|
rs63751076
|
|
|
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)
|
rs33950507
|
|
|
NM_000518.5(HBB):c.84C>T (p.Ala28=)
|
rs748296717
|
|
|
NM_000518.5(HBB):c.85dup (p.Leu29fs)
|
rs35532010
|
|
|
NM_000518.5(HBB):c.87G>C (p.Leu29=)
|
rs1191121382
|
|
|
NM_000518.5(HBB):c.8A>C (p.His3Pro)
|
rs33983205
|
|
|
NM_000518.5(HBB):c.8del (p.His3fs)
|
rs1847589398
|
|
|
NM_000518.5(HBB):c.90C>T (p.Gly30=)
|
rs35578002
|
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
|
NM_000518.5(HBB):c.92+15_92+16insTGG
|
rs1847578475
|
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
|
NM_000518.5(HBB):c.92+2T>A
|
rs33956879
|
|
|
NM_000518.5(HBB):c.92+2T>G
|
rs33956879
|
|
|
NM_000518.5(HBB):c.92+5G>A
|
rs33915217
|
|
|
NM_000518.5(HBB):c.92+5G>T
|
rs33915217
|
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
|
NM_000518.5(HBB):c.93-15T>G
|
rs35456885
|
|
|
NM_000518.5(HBB):c.93-1G>A
|
rs33943001
|
|
|
NM_000518.5(HBB):c.93-1G>C
|
rs33943001
|
|
|
NM_000518.5(HBB):c.93-21_96del
|
rs63750223
|
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
|
NM_000518.5(HBB):c.93-2A>C
|
rs63750513
|
|
|
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
rs1554918013
|
|
|
NM_000518.5(HBB):c.93-3T>G
|
rs34527846
|
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
|
NM_000520.4(HEXA):c.-2564_253+5128delinsG
|
|
|
|
NM_000520.5(HEXA):c.-898A>T
|
rs2140346088
|
|
|
NM_000520.6(HEXA):c.1008G>T (p.Gln336His)
|
|
|
|
NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)
|
|
|
|
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)
|
rs2089059318
|
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
|
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
|
rs2088636561
|
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
|
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile)
|
rs755973971
|
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
|
NM_000520.6(HEXA):c.1330+1G>A
|
rs767041069
|
|
|
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
|
|
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
|
NM_000520.6(HEXA):c.1435del (p.Ala479fs)
|
rs2088601317
|
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
|
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)
|
rs987036804
|
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
|
NM_000520.6(HEXA):c.346+1G>A
|
rs797044432
|
|
|
NM_000520.6(HEXA):c.358A>G (p.Ile120Val)
|
rs1567300305
|
|
|
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)
|
rs121907975
|
|
|
NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
|
|
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
|
rs1057519458
|
|
|
NM_000520.6(HEXA):c.460-13T>C
|
rs2140326429
|
|
|
NM_000520.6(HEXA):c.496del (p.Arg166fs)
|
rs2088724288
|
|
|
NM_000520.6(HEXA):c.499T>G (p.Phe167Val)
|
rs2088724098
|
|
|
NM_000520.6(HEXA):c.531T>A (p.Ser177=)
|
rs747703708
|
|
|
NM_000520.6(HEXA):c.571-20G>T
|
|
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
|
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer)
|
rs2088690482
|
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
|
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)
|
rs1297800753
|
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
|
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)
|
|
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
|
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)
|
rs121907964
|
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
|
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro)
|
rs759837903
|
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
|
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)
|
rs751248523
|
|
|
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)
|
rs1316178162
|
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
|
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)
|
rs121907967
|
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
|
NM_000521.4(HEXB):c.1378T>C (p.Trp460Arg)
|
rs2112180926
|
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
|
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile)
|
rs760366178
|
|
|
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)
|
rs745454291
|
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
|
NM_000521.4(HEXB):c.1613+4A>G
|
|
|
|
NM_000521.4(HEXB):c.1613+5_1613+10del
|
|
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
|
NM_000521.4(HEXB):c.171del (p.Trp57fs)
|
rs771973471
|
|
|
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro)
|
rs774155487
|
|
|
NM_000521.4(HEXB):c.178C>A (p.Pro60Thr)
|
rs761575773
|
|
|
NM_000521.4(HEXB):c.299G>A (p.Arg100Gln)
|
rs1060499701
|
|
|
NM_000521.4(HEXB):c.445+1G>A
|
rs761197472
|
|
|
NM_000521.4(HEXB):c.512-1G>T
|
rs1554035308
|
|
|
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)
|
rs1749120310
|
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
|
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)
|
rs1554035822
|
|
|
NM_000521.4(HEXB):c.988T>G (p.Tyr330Asp)
|
rs1749650679
|
|
|
NM_000523.4(HOXD13):c.183_203dup (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla)
|
|
|
|
NM_000524.4(HTR1A):c.390C>A (p.Ile130=)
|
rs2111832315
|
|
|
NM_000525.4(KCNJ11):c.11G>A (p.Arg4His)
|
|
|
|
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln)
|
rs80356611
|
|
|
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro)
|
rs193922565
|
|
|
NM_000526.5(KRT14):c.907G>A (p.Glu303Lys)
|
rs1907424216
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
|
NM_000527.5(LDLR):c.*18C>T
|
|
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
|
NM_000527.5(LDLR):c.1037T>C (p.Leu346Pro)
|
|
|
|
NM_000527.5(LDLR):c.1039_1040insA (p.Val347fs)
|
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
|
NM_000527.5(LDLR):c.1186+11G>A
|
rs879254822
|
|
|
NM_000527.5(LDLR):c.1186+2T>G
|
rs779921498
|
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1187-14C>T
|
rs1284033782
|
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
|
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)
|
rs201016593
|
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
|
NM_000527.5(LDLR):c.1230G>A (p.Arg410=)
|
rs879254839
|
|
|
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
|
rs879254844
|
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
|
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg)
|
rs752942769
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
|
NM_000527.5(LDLR):c.130T>C (p.Trp44Arg)
|
|
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
|
NM_000527.5(LDLR):c.1358+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
|
NM_000527.5(LDLR):c.1370A>G (p.Asp457Gly)
|
|
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
|
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr)
|
rs778284147
|
|
|
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn)
|
rs2077416170
|
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp)
|
rs879254926
|
|
|
NM_000527.5(LDLR):c.1522A>T (p.Arg508Trp)
|
rs2077420485
|
|
|
NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr)
|
rs879254940
|
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
|
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu)
|
rs763884010
|
|
|
NM_000527.5(LDLR):c.1577C>A (p.Pro526His)
|
rs879254944
|
|
|
NM_000527.5(LDLR):c.1586+12C>T
|
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1587-3C>G
|
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
|
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val)
|
rs2077459948
|
|
|
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del)
|
rs1555806019
|
|
|
NM_000527.5(LDLR):c.1669A>C (p.Thr557Pro)
|
|
|
|
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter)
|
rs875989925
|
|
|
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys)
|
rs879254985
|
|
|
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp)
|
rs28942082
|
|
|
NM_000527.5(LDLR):c.1700C>A (p.Thr567Asn)
|
rs1555806098
|
|
|
NM_000527.5(LDLR):c.1721G>C (p.Arg574Pro)
|
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
|
NM_000527.5(LDLR):c.1846-1_1847dup
|
rs2147264768
|
|
|
NM_000527.5(LDLR):c.1847A>G (p.Asp616Gly)
|
rs2147264778
|
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
|
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr)
|
rs879255064
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
|
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)
|
rs754536745
|
|
|
NM_000527.5(LDLR):c.190+4_190+7del
|
rs2147210820
|
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
|
NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro)
|
rs879255079
|
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
|
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys)
|
rs1568611349
|
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
|
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly)
|
rs879255118
|
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
|
NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu)
|
rs766765648
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
|
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup)
|
rs1131692222
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
|
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala)
|
rs748540948
|
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
|
NM_000527.5(LDLR):c.2319C>A (p.Gly773=)
|
rs377563758
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
|
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
|
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
|
NM_000527.5(LDLR):c.262A>T (p.Arg88Trp)
|
|
|
|
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)
|
rs875989894
|
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
|
NM_000527.5(LDLR):c.270T>C (p.Asp90=)
|
rs372828849
|
|
|
NM_000527.5(LDLR):c.274del (p.Gln92fs)
|
rs2077232183
|
|
|
NM_000527.5(LDLR):c.2T>C (p.Met1Thr)
|
rs1555800701
|
|
|
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895
|
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
|
NM_000527.5(LDLR):c.314-16C>G
|
|
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
|
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)
|
rs193922571
|
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
|
NM_000527.5(LDLR):c.513del (p.Asp172fs)
|
rs879254552
|
|
|
NM_000527.5(LDLR):c.515_516delinsTT (p.Asp172Val)
|
|
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
|
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)
|
rs121908039
|
|
|
NM_000527.5(LDLR):c.562del (p.Tyr188fs)
|
rs879254575
|
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
|
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)
|
rs879254626
|
|
|
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu)
|
rs1057519658
|
|
|
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs)
|
rs879254637
|
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
|
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)
|
rs746091400
|
|
|
NM_000527.5(LDLR):c.6del (p.Trp4fs)
|
rs875989888
|
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
|
NM_000527.5(LDLR):c.779A>G (p.Asp260Gly)
|
rs2077300243
|
|
|
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg)
|
rs1372739823
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
|
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)
|
rs879254683
|
|
|
NM_000527.5(LDLR):c.817+1G>A
|
rs879254685
|
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
|
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
|
|
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
|
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)
|
rs1555803908
|
|
|
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser)
|
rs879254403
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>T
|
rs372848519
|
|
|
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
|
|
|
|
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
|
rs775200333
|
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
|
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
|
rs771647137
|
|
|
NM_000528.4(MAN2B1):c.1929-2A>G
|
rs2023856348
|
|
|
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
|
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)
|
rs1406466561
|
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
|
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.2887del (p.Glu963fs)
|
rs2145220124
|
|
|
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
|
rs1735642901
|
|
|
NM_000528.4(MAN2B1):c.2977dup (p.Glu993fs)
|
|
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
|
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)
|
rs2024155693
|
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
|
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149
|
|
|
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
|
rs1558154149
|
|
|
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
|
rs1602014500
|
|
|
NM_000531.6(OTC):c.140_141insG (p.Asn47fs)
|
rs72554314
|
|
|
NM_000531.6(OTC):c.218A>G (p.Tyr73Cys)
|
|
|
|
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs)
|
rs72554355
|
|
|
NM_000531.6(OTC):c.418G>C (p.Ala140Pro)
|
rs72556260
|
|
|
NM_000531.6(OTC):c.443T>C (p.Leu148Ser)
|
rs67016166
|
|
|
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)
|
rs72558410
|
|
|
NM_000531.6(OTC):c.626C>T (p.Ala209Val)
|
rs72558417
|
|
|
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
|
|
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
|
NM_000531.6(OTC):c.791C>T (p.Thr264Ile)
|
rs67156896
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
|
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)
|
rs72558454
|
|
|
NM_000531.6(OTC):c.830G>A (p.Arg277Gln)
|
rs66724222
|
|
|
NM_000531.6(OTC):c.844del (p.Gln282fs)
|
rs2068530290
|
|
|
NM_000531.6(OTC):c.853C>T (p.Gln285Ter)
|
|
|
|
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
|
rs2068530385
|
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
|
NM_000531.6(OTC):c.943G>T (p.Val315Phe)
|
rs72558470
|
|
|
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)
|
rs72558473
|
|
|
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
|
|
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
|
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
|
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
|
NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
|
|
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
|
NM_000532.5(PCCB):c.1499-1G>C
|
rs1935478339
|
|
|
NM_000532.5(PCCB):c.1499-2A>G
|
|
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
|
NM_000532.5(PCCB):c.154_183+17del
|
rs2108128051
|
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
|
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)
|
rs1935482553
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
|
NM_000532.5(PCCB):c.429+3_429+6del
|
rs1941792728
|
|
|
NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
|
|
|
|
NM_000532.5(PCCB):c.773A>G (p.His258Arg)
|
|
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
|
NM_000533.5(PLP1):c.2T>G (p.Met1Arg)
|
rs864622194
|
|
|
NM_000535.6(PMS2):c.2175-?_2445+?del
|
|
|
|
NM_000535.6(PMS2):c.904-?_988+?dup
|
|
|
|
NM_000535.6:c.(803+1_804-1)_(903+1_904-1)del
|
|
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
|
NM_000535.7(PMS2):c.-1C>T
|
rs369681753
|
|
|
NM_000535.7(PMS2):c.-3T>G
|
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
|
NM_000535.7(PMS2):c.1026A>C (p.Gln342His)
|
rs561993366
|
|
|
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly)
|
rs878854031
|
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
|
NM_000535.7(PMS2):c.1098T>G (p.Asp366Glu)
|
|
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
|
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)
|
rs1583334101
|
|
|
NM_000535.7(PMS2):c.1145-17delinsGGAG
|
rs1562637330
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
|
NM_000535.7(PMS2):c.1209C>T (p.Ser403=)
|
rs147399413
|
|
|
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)
|
rs1554298007
|
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
|
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)
|
rs138387687
|
|
|
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)
|
rs1060503132
|
|
|
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro)
|
rs747495075
|
|
|
NM_000535.7(PMS2):c.1269C>G (p.Ala423=)
|
rs921253631
|
|
|
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu)
|
rs1562635229
|
|
|
NM_000535.7(PMS2):c.1294A>G (p.Asn432Asp)
|
rs1783144549
|
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
|
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser)
|
rs192720342
|
|
|
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)
|
rs1562633331
|
|
|
NM_000535.7(PMS2):c.1338T>C (p.Pro446=)
|
rs786203033
|
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
|
NM_000535.7(PMS2):c.1351del (p.Arg451fs)
|
rs1562634268
|
|
|
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)
|
rs569947936
|
|
|
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser)
|
rs587778615
|
|
|
NM_000535.7(PMS2):c.1389T>C (p.Ser463=)
|
rs1554297811
|
|
|
NM_000535.7(PMS2):c.1422A>C (p.Ala474=)
|
rs1057522125
|
|
|
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)
|
rs755665894
|
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
|
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)
|
rs146848345
|
|
|
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala)
|
rs373917897
|
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
|
NM_000535.7(PMS2):c.1482G>A (p.Ser494=)
|
rs864622398
|
|
|
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala)
|
rs864622497
|
|
|
NM_000535.7(PMS2):c.1515del (p.Phe506fs)
|
rs1583319050
|
|
|
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr)
|
rs878854036
|
|
|
NM_000535.7(PMS2):c.1569C>T (p.Ser523=)
|
rs141458772
|
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
|
NM_000535.7(PMS2):c.1617G>A (p.Ala539=)
|
rs776931237
|
|
|
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val)
|
rs1562629531
|
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
|
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)
|
rs764749700
|
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)
|
rs587780725
|
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
|
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg)
|
rs771892867
|
|
|
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser)
|
rs63750835
|
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
|
NM_000535.7(PMS2):c.1902T>C (p.His634=)
|
rs376335675
|
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
|
NM_000535.7(PMS2):c.1911_1912delinsAT (p.Gln638Ter)
|
rs1782941753
|
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
|
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val)
|
rs1782931972
|
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
|
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg)
|
rs1562624877
|
|
|
NM_000535.7(PMS2):c.2006+67del
|
rs1159879425
|
|
|
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA
|
rs1782473185
|
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
|
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu)
|
rs1562616167
|
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
|
NM_000535.7(PMS2):c.2039G>C (p.Gly680Ala)
|
|
|
|
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys)
|
rs752950007
|
|
|
NM_000535.7(PMS2):c.2085C>T (p.Ile695=)
|
rs757157176
|
|
|
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu)
|
rs1554295859
|
|
|
NM_000535.7(PMS2):c.2092G>A (p.Val698Met)
|
rs751551006
|
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
|
NM_000535.7(PMS2):c.2112C>A (p.Asp704Glu)
|
rs764735061
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
|
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser)
|
rs587780049
|
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
|
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)
|
rs546441038
|
|
|
NM_000535.7(PMS2):c.2160G>C (p.Gly720=)
|
rs546441038
|
|
|
NM_000535.7(PMS2):c.2165G>A (p.Arg722Lys)
|
|
|
|
NM_000535.7(PMS2):c.2166G>A (p.Arg722=)
|
rs863224367
|
|
|
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met)
|
rs1562614497
|
|
|
NM_000535.7(PMS2):c.2175-65_2175-61del
|
rs1417472000
|
|
|
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val)
|
rs1554294503
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
|
NM_000535.7(PMS2):c.21G>C (p.Ser7=)
|
rs587780726
|
|
|
NM_000535.7(PMS2):c.2212G>C (p.Val738Leu)
|
rs758225108
|
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
|
NM_000535.7(PMS2):c.2217G>C (p.Leu739=)
|
rs752718686
|
|
|
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr)
|
rs1554294462
|
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
|
NM_000535.7(PMS2):c.2275+8A>G
|
rs878854046
|
|
|
NM_000535.7(PMS2):c.2276-4T>C
|
rs1562602173
|
|
|
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile)
|
rs201914670
|
|
|
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly)
|
rs587781489
|
|
|
NM_000535.7(PMS2):c.2343G>A (p.Gln781=)
|
rs786202531
|
|
|
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile)
|
rs766565506
|
|
|
NM_000535.7(PMS2):c.2378G>T (p.Ser793Ile)
|
|
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
|
NM_000535.7(PMS2):c.2382T>C (p.Pro794=)
|
rs1057521269
|
|
|
NM_000535.7(PMS2):c.2385G>A (p.Gly795=)
|
rs372868520
|
|
|
NM_000535.7(PMS2):c.2388C>T (p.Val796=)
|
rs876660875
|
|
|
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile)
|
rs786203096
|
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
|
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)
|
rs2128671557
|
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.2445+9A>G
|
rs1562600132
|
|
|
NM_000535.7(PMS2):c.2446-19C>T
|
rs1390101876
|
|
|
NM_000535.7(PMS2):c.2446-5C>G
|
rs864622279
|
|
|
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
|
|
|
|
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly)
|
rs2128658992
|
|
|
NM_000535.7(PMS2):c.2463T>C (p.Ala821=)
|
rs1583270315
|
|
|
NM_000535.7(PMS2):c.2475C>T (p.Ser825=)
|
rs776460258
|
|
|
NM_000535.7(PMS2):c.250+5G>C
|
rs1458809226
|
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
|
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
|
|
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
|
NM_000535.7(PMS2):c.251-10T>A
|
rs1554304817
|
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
|
NM_000535.7(PMS2):c.2538A>G (p.Gly846=)
|
rs863224368
|
|
|
NM_000535.7(PMS2):c.2541G>T (p.Arg847Ser)
|
rs2128657332
|
|
|
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu)
|
rs786201850
|
|
|
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)
|
rs371673459
|
|
|
NM_000535.7(PMS2):c.2566C>T (p.Leu856=)
|
rs1421089696
|
|
|
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu)
|
rs1554304717
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
|
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser)
|
rs876660295
|
|
|
NM_000535.7(PMS2):c.321G>A (p.Arg107=)
|
rs756420858
|
|
|
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu)
|
rs1291217267
|
|
|
NM_000535.7(PMS2):c.348A>C (p.Ala116=)
|
rs763057312
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
|
NM_000535.7(PMS2):c.372C>G (p.Thr124=)
|
rs1060504836
|
|
|
NM_000535.7(PMS2):c.384G>T (p.Ser128=)
|
rs371342884
|
|
|
NM_000535.7(PMS2):c.387G>A (p.Ala129=)
|
rs876658275
|
|
|
NM_000535.7(PMS2):c.406A>T (p.Met136Leu)
|
rs35690297
|
|
|
NM_000535.7(PMS2):c.411T>C (p.Phe137=)
|
rs1785222735
|
|
|
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn)
|
rs1785218841
|
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
|
NM_000535.7(PMS2):c.468A>T (p.Thr156=)
|
rs1364918195
|
|
|
NM_000535.7(PMS2):c.495A>G (p.Thr165=)
|
rs1057520513
|
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
|
NM_000535.7(PMS2):c.524G>T (p.Arg175Met)
|
rs1562688735
|
|
|
NM_000535.7(PMS2):c.538-12dup
|
rs1455766004
|
|
|
NM_000535.7(PMS2):c.538-53_538-42dup
|
rs775465039
|
|
|
NM_000535.7(PMS2):c.566A>C (p.His189Pro)
|
rs876660330
|
|
|
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr)
|
rs2128801302
|
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
|
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)
|
rs769967916
|
|
|
NM_000535.7(PMS2):c.683G>T (p.Gly228Val)
|
rs1554302319
|
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
|
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu)
|
rs1562671039
|
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
|
NM_000535.7(PMS2):c.741_742insGTGTGAAG (p.Ser248delinsValTer)
|
|
|
|
NM_000535.7(PMS2):c.75G>A (p.Gln25=)
|
rs1554306525
|
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
|
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
|
|
|
|
NM_000535.7(PMS2):c.774_777delinsA (p.Ser258_Cys259delinsArg)
|
|
|
|
NM_000535.7(PMS2):c.774_778delinsTA (p.Cys259_Ser260delinsThr)
|
rs1784525754
|
|
|
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
|
|
|
|
NM_000535.7(PMS2):c.789G>C (p.Leu263=)
|
|
|
|
NM_000535.7(PMS2):c.792T>A (p.His264Gln)
|
rs1554301398
|
|
|
NM_000535.7(PMS2):c.7C>A (p.Arg3=)
|
rs763939668
|
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
|
NM_000535.7(PMS2):c.803+7A>G
|
rs1562669544
|
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
|
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg)
|
rs546966892
|
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
|
NM_000535.7(PMS2):c.830C>T (p.Thr277Met)
|
rs1805322
|
|
|
NM_000535.7(PMS2):c.833A>G (p.His278Arg)
|
rs1562664434
|
|
|
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu)
|
rs587782898
|
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
|
NM_000535.7(PMS2):c.855A>G (p.Thr285=)
|
rs1554300771
|
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
|
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu)
|
rs201921616
|
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
|
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu)
|
rs771787834
|
|
|
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser)
|
rs1031512870
|
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
|
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys)
|
rs587781358
|
|
|
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe)
|
rs372172981
|
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
|
NM_000535.7(PMS2):c.989-8dup
|
rs1333503820
|
|
|
NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]
|
|
|
|
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)
|
rs148508754
|
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
|
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu)
|
rs753677011
|
|
|
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)
|
rs909264507
|
|
|
NM_000536.4(RAG2):c.353A>G (p.Lys118Arg)
|
rs1851094033
|
|
|
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)
|
rs1159686210
|
|
|
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
|
|
|
|
NM_000538.4(RFXAP):c.328G>T (p.Asp110Tyr)
|
rs2057955362
|
|
|
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs)
|
rs2138212278
|
|
|
NM_000540.3(RYR1):c.10347+16_10347+22del
|
|
|
|
NM_000540.3(RYR1):c.1123-9del
|
rs775029935
|
|
|
NM_000540.3(RYR1):c.11779-11G>A
|
|
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
|
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr)
|
rs1227202568
|
|
|
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del)
|
rs763413580
|
|
|
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup)
|
rs1358102336
|
|
|
NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser)
|
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
|
NM_000540.3(RYR1):c.13747-13G>A
|
|
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
|
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu)
|
rs373919284
|
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
|
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu)
|
rs1974410266
|
|
|
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val)
|
rs2145917369
|
|
|
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter)
|
rs2145918040
|
|
|
NM_000540.3(RYR1):c.2004C>A (p.Asp668Glu)
|
rs78835441
|
|
|
NM_000540.3(RYR1):c.2331C>G (p.Phe777Leu)
|
rs1210759640
|
|
|
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter)
|
rs1967997615
|
|
|
NM_000540.3(RYR1):c.3021C>G (p.Ser1007Arg)
|
|
|
|
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter)
|
rs759085500
|
|
|
NM_000540.3(RYR1):c.3268G>C (p.Glu1090Gln)
|
rs944826130
|
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
|
NM_000540.3(RYR1):c.5688GGA[1] (p.Glu1898del)
|
rs772076294
|
|
|
NM_000540.3(RYR1):c.58G>A (p.Val20Ile)
|
|
|
|
NM_000540.3(RYR1):c.643G>T (p.Gly215Ter)
|
|
|
|
NM_000540.3(RYR1):c.6489C>A (p.Arg2163=)
|
|
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
|
NM_000540.3(RYR1):c.6897G>C (p.Val2299=)
|
rs767454302
|
|
|
NM_000540.3(RYR1):c.6952T>C (p.Tyr2318His)
|
|
|
|
NM_000540.3(RYR1):c.7765C>T (p.Leu2589=)
|
|
|
|
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr)
|
rs1358912817
|
|
|
NM_000540.3(RYR1):c.7835+12C>G
|
|
|
|
NM_000540.3(RYR1):c.8616+15C>T
|
|
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
|
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs)
|
rs1555787058
|
|
|
NM_000540.3(RYR1):c.9233+3A>G
|
rs1555787274
|
|
|
NM_000540.3(RYR1):c.9473-3C>T
|
|
|
|
NM_000541.5(SAG):c.916G>A (p.Glu306Lys)
|
|
|
|
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.106_107delinsCGCTGGC (p.Val36fs)
|
|
|
|
NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs)
|
rs1554933813
|
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
|
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)
|
rs550365194
|
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
|
NM_000543.5(SMPD1):c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla)
|
rs1847861920
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
|
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
|
rs281860666
|
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
|
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
|
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
|
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)
|
rs794727705
|
|
|
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)
|
rs1848061944
|
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
|
NM_000543.5(SMPD1):c.1462A>G (p.Thr488Ala)
|
|
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
|
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
|
|
|
|
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)
|
rs943924098
|
|
|
NM_000543.5(SMPD1):c.1558A>C (p.Ile520Leu)
|
|
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
|
NM_000543.5(SMPD1):c.1716C>G (p.Phe572Leu)
|
|
|
|
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)
|
rs1057516403
|
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
|
NM_000543.5(SMPD1):c.564del (p.Lys189fs)
|
rs756366019
|
|
|
NM_000543.5(SMPD1):c.564dup (p.Lys189fs)
|
rs756366019
|
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
|
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)
|
rs281860677
|
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
|
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
|
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
|
NM_000545.8(HNF1A):c.-148C>A
|
|
|
|
NM_000545.8(HNF1A):c.1129del (p.Leu377fs)
|
rs193922576
|
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
|
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro)
|
rs193922577
|
|
|
NM_000545.8(HNF1A):c.1309+16T>C
|
|
|
|
NM_000545.8(HNF1A):c.130del (p.Leu44fs)
|
rs193922578
|
|
|
NM_000545.8(HNF1A):c.1341G>A (p.Pro447=)
|
|
|
|
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs)
|
rs2135847490
|
|
|
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs)
|
rs2135819737
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
|
NM_000545.8(HNF1A):c.1502-6G>A
|
rs1458430820
|
|
|
NM_000545.8(HNF1A):c.1502-9T>C
|
|
|
|
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)
|
rs193922582
|
|
|
NM_000545.8(HNF1A):c.1544C>A (p.Thr515Lys)
|
rs745460046
|
|
|
NM_000545.8(HNF1A):c.1689C>G (p.Thr563=)
|
|
|
|
NM_000545.8(HNF1A):c.169del (p.Leu57fs)
|
rs193922588
|
|
|
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)
|
rs137853239
|
|
|
NM_000545.8(HNF1A):c.1747_1766dup (p.Val590fs)
|
|
|
|
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
|
|
|
|
NM_000545.8(HNF1A):c.1768+65dup
|
rs193922590
|
|
|
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
|
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)
|
rs137853241
|
|
|
NM_000545.8(HNF1A):c.1A>G (p.Met1Val)
|
rs193922592
|
|
|
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr)
|
rs76845985
|
|
|
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)
|
rs193922593
|
|
|
NM_000545.8(HNF1A):c.313dup (p.Glu105fs)
|
rs193922594
|
|
|
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg)
|
rs2135820413
|
|
|
NM_000545.8(HNF1A):c.326+4A>G
|
rs193922595
|
|
|
NM_000545.8(HNF1A):c.327-18G>A
|
|
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
|
NM_000545.8(HNF1A):c.441C>A (p.His147Gln)
|
rs193922597
|
|
|
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)
|
rs765432081
|
|
|
NM_000545.8(HNF1A):c.518_526+37del
|
rs386134267
|
|
|
NM_000545.8(HNF1A):c.519G>A (p.Val173=)
|
rs534301078
|
|
|
NM_000545.8(HNF1A):c.526+1G>A
|
rs1364708195
|
|
|
NM_000545.8(HNF1A):c.527-1G>A
|
rs1555211904
|
|
|
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)
|
rs1876084046
|
|
|
NM_000545.8(HNF1A):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)
|
rs1555211922
|
|
|
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del)
|
rs193922599
|
|
|
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser)
|
rs193922600
|
|
|
NM_000545.8(HNF1A):c.680_683delinsTCCTCCACTT (p.Glu227_Glu228delinsValLeuHisLeu)
|
rs1876937295
|
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
|
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)
|
rs193922602
|
|
|
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)
|
rs193922603
|
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
|
NM_000545.8(HNF1A):c.77T>G (p.Leu26Arg)
|
|
|
|
NM_000545.8(HNF1A):c.787C>G (p.Arg263Gly)
|
rs771108132
|
|
|
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)
|
rs193922604
|
|
|
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)
|
rs1555212006
|
|
|
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)
|
rs193922605
|
|
|
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)
|
rs886039386
|
|
|
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)
|
rs193922606
|
|
|
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg)
|
rs193922606
|
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
|
NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)
|
|
|
|
NM_000546.6(TP53):c.*6_*9dup
|
rs1199379236
|
|
|
NM_000546.6(TP53):c.-3G>A
|
rs2073524866
|
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
|
NM_000546.6(TP53):c.1011C>G (p.Arg337=)
|
rs1218459955
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
|
NM_000546.6(TP53):c.1028del (p.Glu343fs)
|
rs2150994907
|
|
|
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)
|
rs35993958
|
|
|
NM_000546.6(TP53):c.1100+8A>G
|
rs878854062
|
|
|
NM_000546.6(TP53):c.1136G>T (p.Arg379Leu)
|
rs863224682
|
|
|
NM_000546.6(TP53):c.118A>G (p.Met40Val)
|
rs1597375159
|
|
|
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
rs878854064
|
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
|
NM_000546.6(TP53):c.185_232del (p.Glu62_Pro77del)
|
rs1567556432
|
|
|
NM_000546.6(TP53):c.18A>G (p.Ser6=)
|
rs573130482
|
|
|
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)
|
rs730882014
|
|
|
NM_000546.6(TP53):c.215_216delinsGT (p.Pro72Arg)
|
rs878854066
|
|
|
NM_000546.6(TP53):c.263C>G (p.Ala88Gly)
|
rs1555526631
|
|
|
NM_000546.6(TP53):c.27C>G (p.Ser9Arg)
|
rs757282628
|
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
|
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs)
|
rs2073455679
|
|
|
NM_000546.6(TP53):c.344A>G (p.His115Arg)
|
rs730881996
|
|
|
NM_000546.6(TP53):c.359A>T (p.Lys120Met)
|
rs2073450819
|
|
|
NM_000546.6(TP53):c.375+2T>C
|
rs1555526469
|
|
|
NM_000546.6(TP53):c.375+5_375+11del
|
rs730882021
|
|
|
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)
|
rs863224683
|
|
|
NM_000546.6(TP53):c.419_430del (p.Thr140_Gln144delinsLys)
|
rs2073392778
|
|
|
NM_000546.6(TP53):c.450A>C (p.Thr150=)
|
rs754020850
|
|
|
NM_000546.6(TP53):c.456G>A (p.Pro152=)
|
rs876659481
|
|
|
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)
|
rs786202752
|
|
|
NM_000546.6(TP53):c.509C>G (p.Thr170Arg)
|
rs779000871
|
|
|
NM_000546.6(TP53):c.557_559+2delinsGGGG
|
rs1567552467
|
|
|
NM_000546.6(TP53):c.559+2del
|
rs1567552459
|
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
|
NM_000546.6(TP53):c.563del (p.Leu188fs)
|
rs1597368970
|
|
|
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)
|
rs397516436
|
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
|
NM_000546.6(TP53):c.666G>T (p.Pro222=)
|
rs72661118
|
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
|
NM_000546.6(TP53):c.672+9T>C
|
rs1057521030
|
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.749C>T (p.Pro250Leu)
|
rs1064794311
|
|
|
NM_000546.6(TP53):c.782+1G>T
|
rs1555525429
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.7G>C (p.Glu3Gln)
|
rs2073524362
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)
|
rs371409680
|
|
|
NM_000546.6(TP53):c.865C>G (p.Leu289Val)
|
rs1555525154
|
|
|
NM_000546.6(TP53):c.869G>T (p.Arg290Leu)
|
rs55819519
|
|
|
NM_000546.6(TP53):c.886C>T (p.His296Tyr)
|
rs672601296
|
|
|
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)
|
rs2073171970
|
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
|
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)
|
rs1048095040
|
|
|
NM_000546.6(TP53):c.919+5G>T
|
rs766127339
|
|
|
NM_000546.6(TP53):c.920-1G>T
|
rs587781702
|
|
|
NM_000546.6(TP53):c.924G>C (p.Leu308=)
|
rs786202546
|
|
|
NM_000546.6(TP53):c.973G>A (p.Gly325Arg)
|
rs863224500
|
|
|
NM_000546.6(TP53):c.986C>T (p.Thr329Ile)
|
rs969930693
|
|
|
NM_000546.6(TP53):c.993+1del
|
rs1131691033
|
|
|
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
|
rs769934890
|
|
|
NM_000548.5(TSC2):c.1202A>C (p.His401Pro)
|
rs2086691569
|
|
|
NM_000548.5(TSC2):c.1254del (p.Arg418fs)
|
|
|
|
NM_000548.5(TSC2):c.1422C>T (p.Leu474=)
|
rs565646854
|
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
|
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser)
|
rs1596356675
|
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
|
NM_000548.5(TSC2):c.3884-7C>T
|
rs1277989059
|
|
|
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)
|
rs137853988
|
|
|
NM_000548.5(TSC2):c.4362T>A (p.Ser1454Arg)
|
rs1320400029
|
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
|
NM_000548.5(TSC2):c.4663-5C>A
|
|
|
|
NM_000548.5(TSC2):c.486C>T (p.Asp162=)
|
rs45473598
|
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
|
NM_000550.3(TYRP1):c.810C>A (p.Ser270Arg)
|
|
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
|
NM_000551.4(VHL):c.192del (p.Ser65fs)
|
rs730882031
|
|
|
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)
|
rs5030826
|
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
|
NM_000551.4(VHL):c.227T>G (p.Phe76Cys)
|
rs730882033
|
|
|
NM_000551.4(VHL):c.22T>G (p.Trp8Gly)
|
rs1352171735
|
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
|
NM_000551.4(VHL):c.238A>C (p.Ser80Arg)
|
rs786202787
|
|
|
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)
|
rs794726890
|
|
|
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)
|
rs794726890
|
|
|
NM_000551.4(VHL):c.250G>C (p.Val84Leu)
|
rs5030827
|
|
|
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)
|
rs398123481
|
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
|
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)
|
rs730882034
|
|
|
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)
|
rs1553619431
|
|
|
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)
|
rs1553619431
|
|
|
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)
|
rs5030807
|
|
|
NM_000551.4(VHL):c.268A>T (p.Asn90Tyr)
|
rs1559426031
|
|
|
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)
|
rs1553619440
|
|
|
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)
|
|
|
|
NM_000551.4(VHL):c.313A>C (p.Thr105Pro)
|
rs1553619461
|
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
|
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)
|
rs1559426203
|
|
|
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)
|
rs869025631
|
|
|
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)
|
rs104893824
|
|
|
NM_000551.4(VHL):c.334T>C (p.Tyr112His)
|
rs104893824
|
|
|
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)
|
rs751232153
|
|
|
NM_000551.4(VHL):c.340+1G>C
|
rs730882032
|
|
|
NM_000551.4(VHL):c.341-21_341-19del
|
rs779747717
|
|
|
NM_000551.4(VHL):c.341-2A>G
|
rs869025637
|
|
|
NM_000551.4(VHL):c.345C>A (p.His115Gln)
|
rs864622646
|
|
|
NM_000551.4(VHL):c.345C>G (p.His115Gln)
|
rs864622646
|
|
|
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)
|
rs727504215
|
|
|
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)
|
rs1553619948
|
|
|
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)
|
rs1559428077
|
|
|
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)
|
rs5030832
|
|
|
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)
|
rs193922610
|
|
|
NM_000551.4(VHL):c.382C>T (p.Leu128Phe)
|
rs1553619956
|
|
|
NM_000551.4(VHL):c.388G>C (p.Val130Leu)
|
rs104893830
|
|
|
NM_000551.4(VHL):c.388G>T (p.Val130Phe)
|
rs104893830
|
|
|
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)
|
rs1553619963
|
|
|
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
|
rs1064794272
|
|
|
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)
|
rs1347416980
|
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
|
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)
|
rs5030833
|
|
|
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)
|
rs5030833
|
|
|
NM_000551.4(VHL):c.408del (p.Phe136fs)
|
rs397516442
|
|
|
NM_000551.4(VHL):c.414A>G (p.Pro138=)
|
rs869025648
|
|
|
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)
|
rs587780077
|
|
|
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)
|
rs760184234
|
|
|
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)
|
rs869025655
|
|
|
NM_000551.4(VHL):c.454A>C (p.Thr152Pro)
|
rs1696267007
|
|
|
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)
|
rs193922611
|
|
|
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)
|
rs1553619993
|
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
|
NM_000551.4(VHL):c.464-117del
|
rs193922612
|
|
|
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)
|
rs397516441
|
|
|
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)
|
rs121913346
|
|
|
NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)
|
rs1553620305
|
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
|
NM_000551.4(VHL):c.483del (p.Cys162fs)
|
rs1696355438
|
|
|
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)
|
rs1553620313
|
|
|
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)
|
rs397516444
|
|
|
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)
|
rs1553620318
|
|
|
NM_000551.4(VHL):c.490C>A (p.Gln164Lys)
|
rs5030819
|
|
|
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)
|
rs267607170
|
|
|
NM_000551.4(VHL):c.492G>T (p.Gln164His)
|
rs1352275281
|
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
|
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)
|
rs193922613
|
|
|
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)
|
rs5030835
|
|
|
NM_000551.4(VHL):c.539T>G (p.Ile180Ser)
|
rs1559429750
|
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
|
NM_000551.4(VHL):c.549G>T (p.Ser183=)
|
rs193922614
|
|
|
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)
|
rs281860296
|
|
|
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)
|
rs1559430011
|
|
|
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter)
|
rs62643625
|
|
|
NM_000552.5(VWF):c.1156+1G>A
|
|
|
|
NM_000552.5(VWF):c.1606C>T (p.Leu536Phe)
|
|
|
|
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu)
|
rs139196998
|
|
|
NM_000552.5(VWF):c.1848G>C (p.Ser616=)
|
|
|
|
NM_000552.5(VWF):c.1946-9C>T
|
|
|
|
NM_000552.5(VWF):c.202C>T (p.Arg68Cys)
|
|
|
|
NM_000552.5(VWF):c.2138G>A (p.Gly713Asp)
|
|
|
|
NM_000552.5(VWF):c.2839A>G (p.Met947Val)
|
|
|
|
NM_000552.5(VWF):c.2973A>G (p.Lys991=)
|
|
|
|
NM_000552.5(VWF):c.3024C>T (p.Thr1008=)
|
|
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
|
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)
|
rs267607326
|
|
|
NM_000552.5(VWF):c.3538+1G>C
|
|
|
|
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)
|
rs1591865026
|
|
|
NM_000552.5(VWF):c.3614G>A (p.Arg1205His)
|
rs121964895
|
|
|
NM_000552.5(VWF):c.3674+8A>G
|
|
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
|
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
|
|
|
|
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.3839_3845dup (p.Asp1283fs)
|
rs61749377
|
|
|
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu)
|
rs61749385
|
|
|
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)
|
rs61749387
|
|
|
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.4213AAG[3] (p.Lys1408del)
|
rs61750078
|
|
|
NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln)
|
rs61750079
|
|
|
NM_000552.5(VWF):c.4241T>G (p.Val1414Gly)
|
rs1565831973
|
|
|
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)
|
rs61750081
|
|
|
NM_000552.5(VWF):c.4257T>G (p.His1419Gln)
|
|
|
|
NM_000552.5(VWF):c.4324A>G (p.Ser1442Gly)
|
|
|
|
NM_000552.5(VWF):c.4353C>A (p.Asp1451Glu)
|
|
|
|
NM_000552.5(VWF):c.4439C>T (p.Pro1480Leu)
|
|
|
|
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)
|
rs61750100
|
|
|
NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe)
|
rs267607344
|
|
|
NM_000552.5(VWF):c.4642G>A (p.Val1548Met)
|
|
|
|
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)
|
rs61750117
|
|
|
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)
|
rs61750580
|
|
|
NM_000552.5(VWF):c.4912G>A (p.Glu1638Lys)
|
rs61750588
|
|
|
NM_000552.5(VWF):c.5170+1G>A
|
rs764543553
|
|
|
NM_000552.5(VWF):c.5170+5G>A
|
rs1591860863
|
|
|
NM_000552.5(VWF):c.545C>T (p.Ser182Leu)
|
|
|
|
NM_000552.5(VWF):c.56-17G>A
|
|
|
|
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
|
|
|
|
NM_000552.5(VWF):c.5797C>T (p.Pro1933Ser)
|
|
|
|
NM_000552.5(VWF):c.6104G>A (p.Gly2035Asp)
|
|
|
|
NM_000552.5(VWF):c.652C>A (p.Gln218Lys)
|
|
|
|
NM_000552.5(VWF):c.6697G>T (p.Glu2233Ter)
|
|
|
|
NM_000552.5(VWF):c.6798+11G>A
|
|
|
|
NM_000552.5(VWF):c.6901+14C>T
|
|
|
|
NM_000552.5(VWF):c.7551C>T (p.Val2517=)
|
|
|
|
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
|
|
|
|
NM_000552.5(VWF):c.7886del (p.Leu2629fs)
|
|
|
|
NM_000552.5(VWF):c.824G>C (p.Cys275Ser)
|
rs2136474280
|
|
|
NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser)
|
rs371036946
|
|
|
NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)
|
|
|
|
NM_000553.6(WRN):c.3589A>C (p.Asn1197His)
|
rs1480573176
|
|
|
NM_000553.6(WRN):c.3946A>G (p.Ile1316Val)
|
rs750389299
|
|
|
NM_000553.6(WRN):c.654+2T>C
|
|
|
|
NM_000553.6(WRN):c.96+1G>T
|
|
|
|
NM_000557.5(GDF5):c.1448A>G (p.Asn483Ser)
|
rs371230143
|
|
|
NM_000558.3(HBA1):c.310C>T (p.His104Tyr)
|
rs28928884
|
|
|
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)
|
rs41407250
|
|
|
NM_000558.5(HBA1):c.-3_-2del
|
|
|
|
NM_000558.5(HBA1):c.142G>C (p.Asp48His)
|
|
|
|
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)
|
rs281864895
|
|
|
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
|
|
|
|
NM_000558.5(HBA1):c.95+2_95+6del
|
rs1181505507
|
|
|
NM_000558.5(HBA1):c.98T>A (p.Met33Lys)
|
rs281864566
|
|
|
NM_000593.6(TAP1):c.-46_-45delinsAT
|
rs1770963822
|
|
|
NM_000593.6(TAP1):c.2239C>T (p.Pro747Ser)
|
|
|
|
NM_000612.6(IGF2):c.100G>A (p.Gly34Ser)
|
rs1858937359
|
|
|
NM_000612.6(IGF2):c.232G>A (p.Ala78Thr)
|
|
|
|
NM_000612.6(IGF2):c.513C>A (p.Ala171=)
|
|
|
|
NM_000629.3(IFNAR1):c.1356del (p.Phe452fs)
|
|
|
|
NM_000631.5(NCF4):c.33-1G>A
|
rs2145702588
|
|
|
NM_000631.5(NCF4):c.471-1G>A
|
|
|
|
NM_000631.5(NCF4):c.729C>A (p.Tyr243Ter)
|
|
|
|
NM_000631.5(NCF4):c.758+99_758+101delinsC
|
|
|
|
NM_000631.5(NCF4):c.759-40C>T
|
|
|
|
NM_000639.3(FASLG):c.540C>T (p.Gly180=)
|
|
|
|
NM_000642.3(AGL):c.1020del (p.Glu340fs)
|
rs1651357012
|
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
|
NM_000642.3(AGL):c.2433+1G>A
|
rs2100768428
|
|
|
NM_000642.3(AGL):c.2681+1G>T
|
rs201201443
|
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
|
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu)
|
rs569268763
|
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
|
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)
|
rs776977863
|
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
|
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
|
|
|
|
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)
|
rs1057516994
|
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
|
NM_000642.3(AGL):c.4514del (p.Asn1505fs)
|
rs2100901643
|
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
|
NM_000642.3(AGL):c.613A>T (p.Lys205Ter)
|
rs562042076
|
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
|
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG
|
|
|
|
NM_000666.3(ACY1):c.160-1G>A
|
|
|
|
NM_000682.7(ADRA2B):c.636dup (p.Pro213fs)
|
rs756613487
|
|
|
NM_000701.8(ATP1A1):c.12+3G>T
|
|
|
|
NM_000702.4(ATP1A2):c.1118C>G (p.Ser373Trp)
|
|
|
|
NM_000702.4(ATP1A2):c.1769A>T (p.Asp590Val)
|
rs1570990507
|
|
|
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn)
|
rs2101995480
|
|
|
NM_000702.4(ATP1A2):c.255T>G (p.Pro85=)
|
|
|
|
NM_000702.4(ATP1A2):c.319A>G (p.Ile107Val)
|
rs2101985456
|
|
|
NM_000702.4(ATP1A2):c.671C>A (p.Thr224Asn)
|
|
|
|
NM_000702.4(ATP1A2):c.695A>G (p.Glu232Gly)
|
|
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
|
NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
|
NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.335T>C (p.Leu112Pro)
|
|
|
|
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
|
|
|
|
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)
|
rs764247545
|
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
|
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)
|
rs1253348004
|
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
|
NM_000718.4(CACNA1B):c.1222GAG[1] (p.Glu409del)
|
|
|
|
NM_000718.4(CACNA1B):c.2352C>T (p.Cys784=)
|
|
|
|
NM_000718.4(CACNA1B):c.2651A>T (p.Glu884Val)
|
rs2133438747
|
|
|
NM_000718.4(CACNA1B):c.6745G>A (p.Ala2249Thr)
|
|
|
|
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)
|
rs1555075958
|
|
|
NM_000719.7(CACNA1C):c.2229C>T (p.Ile743=)
|
rs759734767
|
|
|
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln)
|
rs774931483
|
|
|
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)
|
rs730880056
|
|
|
NM_000719.7(CACNA1C):c.3913-18A>G
|
|
|
|
NM_000719.7(CACNA1C):c.3939C>T (p.Pro1313=)
|
rs2094569738
|
|
|
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)
|
rs778011390
|
|
|
NM_000719.7(CACNA1C):c.5145G>A (p.Arg1715=)
|
rs761205516
|
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
|
NM_000719.7(CACNA1C):c.5574-13C>A
|
rs1265215318
|
|
|
NM_000719.7(CACNA1C):c.5680+11C>T
|
rs66611965
|
|
|
NM_000719.7(CACNA1C):c.5870C>A (p.Ala1957Asp)
|
rs1323011590
|
|
|
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile)
|
rs193922615
|
|
|
NM_000719.7(CACNA1C):c.6123G>C (p.Leu2041Phe)
|
rs998497258
|
|
|
NM_000719.7(CACNA1C):c.617+17_617+19delinsATC
|
|
|
|
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)
|
rs193922616
|
|
|
NM_000726.5(CACNB4):c.521+11A>G
|
|
|
|
NM_000726.5(CACNB4):c.699+15T>C
|
|
|
|
NM_000732.6(CD3D):c.107del (p.Asn36fs)
|
|
|
|
NM_000732.6(CD3D):c.55+6G>C
|
|
|
|
NM_000733.4(CD3E):c.281G>C (p.Gly94Ala)
|
rs1565511330
|
|
|
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
|
|
|
|
NM_000733.4(CD3E):c.567+65_567+66del
|
rs386134229
|
|
|
NM_000742.4(CHRNA2):c.1350G>T (p.Lys450Asn)
|
|
|
|
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
|
|
|
|
NM_000742.4(CHRNA2):c.529G>C (p.Ala177Pro)
|
rs796052298
|
|
|
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe)
|
rs761335733
|
|
|
NM_000744.7(CHRNA4):c.1759-17G>C
|
|
|
|
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
|
|
|
|
NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)
|
|
|
|
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)
|
rs777676129
|
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
|
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.53G>T (p.Arg18Leu)
|
rs2106479070
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
|
NM_000784.4(CYP27A1):c.58del (p.Leu20fs)
|
rs2106479076
|
|
|
NM_000784.4(CYP27A1):c.63C>G (p.Cys21Trp)
|
rs781222632
|
|
|
NM_000784.4(CYP27A1):c.68A>G (p.His23Arg)
|
rs1943398664
|
|
|
NM_000784.4(CYP27A1):c.74C>G (p.Ala25Gly)
|
rs2106479103
|
|
|
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu)
|
rs28934605
|
|
|
NM_000789.4(ACE):c.1511del (p.Pro504fs)
|
|
|
|
NM_000797.4(DRD4):c.1016G>A (p.Gly339Asp)
|
|
|
|
NM_000797.4(DRD4):c.406GCCGTG[1] (p.136AV[1])
|
|
|
|
NM_000808.4(GABRA3):c.512T>C (p.Leu171Pro)
|
|
|
|
NM_000810.4(GABRA5):c.30C>T (p.Ile10=)
|
|
|
|
NM_000814.6(GABRB3):c.241-4C>G
|
|
|
|
NM_000815.5(GABRD):c.848-17C>T
|
|
|
|
NM_000817.3(GAD1):c.1297G>T (p.Gly433Ter)
|
|
|
|
NM_000823.4(GHRHR):c.201G>A (p.Thr67=)
|
|
|
|
NM_000823.4(GHRHR):c.975-18G>A
|
rs188490880
|
|
|
NM_000823.4(GHRHR):c.989C>T (p.Ser330Leu)
|
|
|
|
NM_000824.5(GLRB):c.527G>C (p.Arg176Thr)
|
|
|
|
NM_000824.5(GLRB):c.765C>G (p.Cys255Trp)
|
|
|
|
NM_000827.4(GRIA1):c.1215G>C (p.Gln405His)
|
|
|
|
NM_000829.4(GRIA4):c.2047-16T>C
|
|
|
|
NM_000829.4(GRIA4):c.2617G>A (p.Val873Ile)
|
rs1158277612
|
|
|
NM_000829.4(GRIA4):c.280A>G (p.Ile94Val)
|
|
|
|
NM_000834.5(GRIN2B):c.1099C>T (p.Leu367=)
|
rs1057522928
|
|
|
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg)
|
rs1949368959
|
|
|
NM_000834.5(GRIN2B):c.1694T>G (p.Met565Arg)
|
|
|
|
NM_000834.5(GRIN2B):c.2341C>A (p.Leu781Met)
|
rs1064796752
|
|
|
NM_000834.5(GRIN2B):c.2599-19C>T
|
|
|
|
NM_000834.5(GRIN2B):c.3322G>A (p.Ala1108Thr)
|
|
|
|
NM_000834.5(GRIN2B):c.3952G>A (p.Ala1318Thr)
|
|
|
|
NM_000836.4(GRIN2D):c.156C>A (p.Asn52Lys)
|
|
|
|
NM_000836.4(GRIN2D):c.2236A>G (p.Thr746Ala)
|
|
|
|
NM_000836.4(GRIN2D):c.223G>A (p.Ala75Thr)
|
rs2147434423
|
|
|
NM_000836.4(GRIN2D):c.2392C>G (p.Arg798Gly)
|
|
|
|
NM_000836.4(GRIN2D):c.2711C>G (p.Pro904Arg)
|
|
|
|
NM_000836.4(GRIN2D):c.2761C>T (p.Pro921Ser)
|
|
|
|
NM_000836.4(GRIN2D):c.3756G>C (p.Arg1252Ser)
|
|
|
|
NM_000875.5(IGF1R):c.1799A>C (p.Glu600Ala)
|
|
|
|
NM_000875.5(IGF1R):c.2956+11G>A
|
|
|
|
NM_000875.5(IGF1R):c.836G>A (p.Arg279His)
|
|
|
|
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=)
|
rs1007358932
|
|
|
NM_000891.3(KCNJ2):c.8G>C (p.Ser3Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
|
NM_000899.5(KITLG):c.151_153del (p.Tyr51del)
|
|
|
|
NM_000901.5(NR3C2):c.2153C>T (p.Ser718Leu)
|
|
|
|
NM_000921.5(PDE3A):c.1801C>T (p.Pro601Ser)
|
|
|
|
NM_000921.5(PDE3A):c.1955A>C (p.Lys652Thr)
|
|
|
|
NM_000921.5(PDE3A):c.2139+12A>G
|
|
|
|
NM_000921.5(PDE3A):c.905G>A (p.Gly302Asp)
|
|
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
|
NM_000925.4(PDHB):c.3G>C (p.Met1Ile)
|
|
|
|
NM_000925.4(PDHB):c.818del (p.Pro273fs)
|
|
|
|
NM_000937.5(POLR2A):c.680G>A (p.Arg227His)
|
|
|
|
NM_000942.5(PPIB):c.528+1G>C
|
rs1228817029
|
|
|
NM_000942.5(PPIB):c.528+5G>A
|
|
|
|
NM_000944.5(PPP3CA):c.1491C>A (p.Asn497Lys)
|
|
|
|
NM_000944.5(PPP3CA):c.836G>A (p.Arg279Gln)
|
rs2110240857
|
|
|
NM_000988.5(RPL27):c.145_147delinsCAG (p.Tyr49Gln)
|
|
|
|
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg)
|
rs782081961
|
|
|
NM_001001344.3(ATP2B3):c.3051+17C>T
|
|
|
|
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del)
|
rs550565800
|
|
|
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs)
|
rs771061715
|
|
|
NM_001001548.3(CD36):c.424G>A (p.Val142Met)
|
|
|
|
NM_001001548.3(CD36):c.667_671del (p.Lys223fs)
|
rs748431584
|
|
|
NM_001001557.4(GDF6):c.399G>A (p.Arg133=)
|
|
|
|
NM_001002294.3(FMO3):c.-6-1G>C
|
|
|
|
NM_001002294.3(FMO3):c.1408C>T (p.Gln470Ter)
|
|
|
|
NM_001002294.3(FMO3):c.584C>T (p.Ser195Leu)
|
|
|
|
NM_001002294.3(FMO3):c.919A>C (p.Thr307Pro)
|
|
|
|
NM_001002295.2(GATA3):c.89G>A (p.Gly30Asp)
|
rs1588374874
|
|
|
NM_001002755.4(NFU1):c.721-1G>A
|
|
|
|
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs)
|
rs2125500625
|
|
|
NM_001003694.2(BRPF1):c.2107T>G (p.Phe703Val)
|
rs1337408318
|
|
|
NM_001003694.2(BRPF1):c.316C>T (p.Arg106Cys)
|
|
|
|
NM_001003694.2(BRPF1):c.940C>T (p.Gln314Ter)
|
|
|
|
NM_001003722.2(GLE1):c.1881+5G>A
|
|
|
|
NM_001003722.2(GLE1):c.2006T>A (p.Ile669Lys)
|
|
|
|
NM_001003800.2(BICD2):c.-2C>T
|
|
|
|
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
|
|
|
|
NM_001003841.3(SLC6A19):c.1173+2T>G
|
rs142979576
|
|
|
NM_001003841.3(SLC6A19):c.1213G>A (p.Glu405Lys)
|
|
|
|
NM_001003841.3(SLC6A19):c.1550A>G (p.Asp517Gly)
|
|
|
|
NM_001003841.3(SLC6A19):c.169C>T (p.Arg57Cys)
|
|
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
|
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)
|
rs878898365
|
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
|
NM_001005242.3(PKP2):c.1245G>A (p.Val415=)
|
rs1555145513
|
|
|
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)
|
rs1393661338
|
|
|
NM_001005242.3(PKP2):c.1379-1966del
|
rs1555144717
|
|
|
NM_001005242.3(PKP2):c.1379-1985A>G
|
rs1193122924
|
|
|
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer)
|
rs794729126
|
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
|
NM_001005242.3(PKP2):c.14del (p.Gly5fs)
|
rs397516996
|
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
|
NM_001005242.3(PKP2):c.1708del (p.Leu570fs)
|
rs1555142994
|
|
|
NM_001005242.3(PKP2):c.172G>T (p.Glu58Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1881del (p.Lys628fs)
|
rs764817683
|
|
|
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)
|
rs193922673
|
|
|
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg)
|
rs794729113
|
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
|
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter)
|
rs1325285497
|
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
|
NM_001005242.3(PKP2):c.2168-11del
|
rs746936605
|
|
|
NM_001005242.3(PKP2):c.2168-21_2168-20del
|
rs200266270
|
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2168-8T>C
|
rs1565572439
|
|
|
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
|
rs1064794350
|
|
|
NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)
|
|
|
|
NM_001005242.3(PKP2):c.2183C>T (p.Pro728Leu)
|
|
|
|
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)
|
rs794729098
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs)
|
rs786204395
|
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
|
NM_001005242.3(PKP2):c.2408T>C (p.Leu803Pro)
|
rs1064794215
|
|
|
NM_001005242.3(PKP2):c.2437_2445+41del
|
rs1064792928
|
|
|
NM_001005242.3(PKP2):c.337-9C>A
|
rs781357829
|
|
|
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)
|
rs794729132
|
|
|
NM_001005242.3(PKP2):c.457G>A (p.Asp153Asn)
|
rs747856983
|
|
|
NM_001005242.3(PKP2):c.567A>G (p.Leu189=)
|
rs1555148149
|
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
|
NM_001005242.3(PKP2):c.987del (p.Ser329fs)
|
rs1432861552
|
|
|
NM_001005273.3(CHD3):c.121C>A (p.Leu41Met)
|
|
|
|
NM_001005273.3(CHD3):c.1344G>A (p.Glu448=)
|
|
|
|
NM_001005273.3(CHD3):c.1588G>A (p.Ala530Thr)
|
|
|
|
NM_001005273.3(CHD3):c.3895A>T (p.Ile1299Phe)
|
|
|
|
NM_001005273.3(CHD3):c.5684G>A (p.Arg1895His)
|
|
|
|
NM_001005361.3(DNM2):c.586C>G (p.Gln196Glu)
|
|
|
|
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
|
rs2071430985
|
|
|
NM_001005741.3(GBA1):c.-68-82A>G
|
|
|
|
NM_001006658.3(CR2):c.593dup (p.Leu198fs)
|
rs763336891
|
|
|
NM_001007228.2(SPOP):c.565G>T (p.Glu189Ter)
|
rs2143193766
|
|
|
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)
|
rs2111857835
|
|
|
NM_001008212.2(OPTN):c.552+2T>G
|
|
|
|
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
|
|
|
|
NM_001008216.2(GALE):c.118C>T (p.Arg40Cys)
|
|
|
|
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu)
|
rs1261697960
|
|
|
NM_001008216.2(GALE):c.632A>G (p.Tyr211Cys)
|
|
|
|
NM_001008216.2(GALE):c.796A>C (p.Ile266Leu)
|
|
|
|
NM_001008216.2(GALE):c.820G>C (p.Gly274Arg)
|
|
|
|
NM_001008537.3(NEXMIF):c.1060G>A (p.Ala354Thr)
|
|
|
|
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)
|
rs891017786
|
|
|
NM_001008537.3(NEXMIF):c.2018G>T (p.Gly673Val)
|
|
|
|
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
|
rs2080109236
|
|
|
NM_001008537.3(NEXMIF):c.2837A>G (p.Asn946Ser)
|
|
|
|
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter)
|
rs2147439364
|
|
|
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
|
|
|
|
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val)
|
|
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
|
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)
|
rs2091572700
|
|
|
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
|
|
|
|
NM_001009944.3(PKD1):c.12334_12335insGG (p.Ala4112fs)
|
|
|
|
NM_001009944.3(PKD1):c.1606+1G>A
|
rs2151820539
|
|
|
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr)
|
|
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
|
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)
|
rs2092684130
|
|
|
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly)
|
rs2151800134
|
|
|
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)
|
rs1057518976
|
|
|
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
|
|
|
|
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser)
|
|
|
|
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn)
|
rs756419129
|
|
|
NM_001009944.3(PKD1):c.5364del (p.Ser1789fs)
|
|
|
|
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser)
|
|
|
|
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
|
|
|
|
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser)
|
|
|
|
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)
|
rs2151787670
|
|
|
NM_001009944.3(PKD1):c.6747G>C (p.Val2249=)
|
|
|
|
NM_001009944.3(PKD1):c.6747_6750delinsCA (p.Thr2250fs)
|
|
|
|
NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs)
|
|
|
|
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser)
|
|
|
|
NM_001009944.3(PKD1):c.7214G>A (p.Trp2405Ter)
|
rs1555453244
|
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
|
NM_001009944.3(PKD1):c.7704-1G>A
|
|
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
|
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)
|
|
|
|
NM_001009944.3(PKD1):c.8162-13C>G
|
|
|
|
NM_001009944.3(PKD1):c.8900C>G (p.Ser2967Ter)
|
|
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
|
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]
|
|
|
|
NM_001009999.3(KDM1A):c.2314G>A (p.Val772Met)
|
rs2124555975
|
|
|
NM_001009999.3(KDM1A):c.833G>A (p.Arg278His)
|
|
|
|
NM_001009999.3(KDM1A):c.954_955del (p.Ser319fs)
|
|
|
|
NM_001010867.4(IBA57):c.-10C>G
|
|
|
|
NM_001010867.4(IBA57):c.560G>A (p.Arg187His)
|
|
|
|
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
|
|
|
|
NM_001010867.4(IBA57):c.[338_341+2del;341+5del]
|
|
|
|
NM_001010898.4(SLC6A17):c.2139T>A (p.Tyr713Ter)
|
|
|
|
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys)
|
rs139862860
|
|
|
NM_001014437.3(CARS1):c.234_237delinsCAAAGGAGCTTT (p.Ser79fs)
|
|
|
|
NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs)
|
|
|
|
NM_001017980.4(VMA21):c.-486C>T
|
|
|
|
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu)
|
rs730881156
|
|
|
NM_001018005.2(TPM1):c.25C>T (p.Gln9Ter)
|
|
|
|
NM_001018005.2(TPM1):c.294G>A (p.Glu98=)
|
rs747206706
|
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
|
NM_001018005.2(TPM1):c.563+353G>T
|
|
|
|
NM_001018005.2(TPM1):c.625G>T (p.Ala209Ser)
|
rs730881159
|
|
|
NM_001018005.2(TPM1):c.772+94_772+99delinsTT
|
rs397515630
|
|
|
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=)
|
rs764447374
|
|
|
NM_001018115.3(FANCD2):c.1278+3_1278+6del
|
rs369823368
|
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
|
NM_001018115.3(FANCD2):c.1827+1G>C
|
rs761074497
|
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
|
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
|
NM_001020658.2(PUM1):c.1252+17A>G
|
|
|
|
NM_001020658.2(PUM1):c.1773del (p.Ser592fs)
|
rs1640658015
|
|
|
NM_001020658.2(PUM1):c.1876C>T (p.Gln626Ter)
|
|
|
|
NM_001020658.2(PUM1):c.535A>G (p.Thr179Ala)
|
|
|
|
NM_001022.4(RPS19):c.172+3G>A
|
|
|
|
NM_001022.4(RPS19):c.20_22delinsCTCCAGCATCCAGTT (p.Lys7_Asp8delinsThrProAlaSerSerTyr)
|
|
|
|
NM_001024630.4(RUNX2):c.423+3A>G
|
|
|
|
NM_001024630.4(RUNX2):c.90del (p.Ser31fs)
|
rs397515538
|
|
|
NM_001024845.3(SLC6A9):c.1536+1G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-764_31-763del
|
|
|
|
NM_001025.5(RPS23):c.58C>G (p.Gln20Glu)
|
|
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
|
NM_001025295.3(IFITM5):c.94C>T (p.Pro32Ser)
|
|
|
|
NM_001025356.3(ANO6):c.1309-15T>C
|
|
|
|
NM_001025356.3(ANO6):c.1449A>T (p.Val483=)
|
|
|
|
NM_001025356.3(ANO6):c.1880+17A>G
|
|
|
|
NM_001025356.3(ANO6):c.2107G>T (p.Ala703Ser)
|
|
|
|
NM_001025356.3(ANO6):c.239G>A (p.Arg80Lys)
|
|
|
|
NM_001025356.3(ANO6):c.2418C>T (p.Cys806=)
|
|
|
|
NM_001025356.3(ANO6):c.2526+10G>C
|
|
|
|
NM_001025356.3(ANO6):c.276A>G (p.Gln92=)
|
|
|
|
NM_001025356.3(ANO6):c.586A>G (p.Ile196Val)
|
|
|
|
NM_001025603.2(RFX5):c.1032C>T (p.Ile344=)
|
rs1557831362
|
|
|
NM_001025603.2(RFX5):c.1146del (p.Asn382fs)
|
rs2102060624
|
|
|
NM_001025603.2(RFX5):c.1177G>A (p.Gly393Arg)
|
rs2102060534
|
|
|
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
|
|
|
|
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp)
|
rs1557830458
|
|
|
NM_001025603.2(RFX5):c.1771G>A (p.Gly591Ser)
|
rs1650509739
|
|
|
NM_001025603.2(RFX5):c.233+1G>T
|
|
|
|
NM_001025603.2(RFX5):c.555+1G>C
|
rs367771361
|
|
|
NM_001025603.2(RFX5):c.859-2A>G
|
|
|
|
NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter)
|
rs1569523562
|
|
|
NM_001031726.4(C19orf12):c.164_166delGGG
|
rs398122409
|
|
|
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)
|
rs121918317
|
|
|
NM_001032221.6(STXBP1):c.605C>T (p.Ala202Val)
|
rs1841236507
|
|
|
NM_001032283.3(TMPO):c.190G>A (p.Asp64Asn)
|
rs1462361337
|
|
|
NM_001032283.3(TMPO):c.19G>C (p.Asp7His)
|
|
|
|
NM_001032283.3(TMPO):c.279+19G>A
|
rs1233664962
|
|
|
NM_001032283.3(TMPO):c.565+1127C>T
|
rs777779709
|
|
|
NM_001032283.3(TMPO):c.565+1242A>G
|
|
|
|
NM_001032283.3(TMPO):c.565+1548A>G
|
rs779658294
|
|
|
NM_001032283.3(TMPO):c.565+1777G>C
|
|
|
|
NM_001032283.3(TMPO):c.565+1782G>A
|
rs763388598
|
|
|
NM_001032283.3(TMPO):c.565+1819A>G
|
rs1479099731
|
|
|
NM_001032283.3(TMPO):c.565+1983del
|
|
|
|
NM_001032283.3(TMPO):c.565+2026T>C
|
rs1555203926
|
|
|
NM_001032283.3(TMPO):c.565+2138T>G
|
|
|
|
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)
|
rs200715521
|
|
|
NM_001032382.2(PQBP1):c.641+13C>T
|
|
|
|
NM_001032386.2(SUOX):c.1040T>C (p.Leu347Pro)
|
rs1890659461
|
|
|
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)
|
rs773115
|
|
|
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=)
|
rs773115
|
|
|
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg)
|
rs574353697
|
|
|
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
|
|
|
|
NM_001032386.2(SUOX):c.51-2A>C
|
|
|
|
NM_001032386.2(SUOX):c.768C>A (p.Tyr256Ter)
|
|
|
|
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)
|
rs748900391
|
|
|
NM_001033855.3(DCLRE1C):c.1119A>C (p.Gly373=)
|
rs1554780259
|
|
|
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)
|
rs1354336544
|
|
|
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)
|
|
|
|
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
|
|
|
|
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)
|
rs760288938
|
|
|
NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)
|
|
|
|
NM_001033855.3(DCLRE1C):c.247-1G>C
|
rs2131027668
|
|
|
NM_001033855.3(DCLRE1C):c.328C>G (p.Leu110Val)
|
|
|
|
NM_001034116.2(EIF2B4):c.1337G>A (p.Arg446His)
|
|
|
|
NM_001034116.2(EIF2B4):c.1346C>T (p.Thr449Ile)
|
rs2148368349
|
|
|
NM_001034116.2(EIF2B4):c.1567C>T (p.Gln523Ter)
|
|
|
|
NM_001034116.2(EIF2B4):c.32-1G>T
|
rs1682246203
|
|
|
NM_001034116.2(EIF2B4):c.498+2_498+5del
|
|
|
|
NM_001034850.3(RETREG1):c.34G>T (p.Glu12Ter)
|
|
|
|
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu)
|
rs2067408372
|
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
|
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)
|
rs2067199347
|
|
|
NM_001034853.2(RPGR):c.2180T>A (p.Met727Lys)
|
|
|
|
NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)
|
|
|
|
NM_001035.2(RYR2):c.14091-11dup
|
rs35563566
|
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
|
NM_001035.3(RYR2):c.10632A>G (p.Pro3544=)
|
rs1689897244
|
|
|
NM_001035.3(RYR2):c.10703del (p.Val3568fs)
|
rs1690189277
|
|
|
NM_001035.3(RYR2):c.10935+17_10935+18delinsTT
|
rs1690568496
|
|
|
NM_001035.3(RYR2):c.11092-13_11092-11del
|
rs397516499
|
|
|
NM_001035.3(RYR2):c.11092-13_11092-11dup
|
rs397516499
|
|
|
NM_001035.3(RYR2):c.11092-14_11092-11del
|
rs397516499
|
|
|
NM_001035.3(RYR2):c.11092-14_11092-11dup
|
rs397516499
|
|
|
NM_001035.3(RYR2):c.1119T>C (p.Thr373=)
|
|
|
|
NM_001035.3(RYR2):c.11403-16dup
|
|
|
|
NM_001035.3(RYR2):c.11667T>C (p.Tyr3889=)
|
|
|
|
NM_001035.3(RYR2):c.11881-19G>T
|
|
|
|
NM_001035.3(RYR2):c.11930A>C (p.Asp3977Ala)
|
rs1553321536
|
|
|
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
|
|
|
|
NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=)
|
rs1335612184
|
|
|
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)
|
rs1060500135
|
|
|
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)
|
rs372943408
|
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
|
NM_001035.3(RYR2):c.12791T>G (p.Leu4264Arg)
|
rs2149355228
|
|
|
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)
|
rs121918602
|
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
|
NM_001035.3(RYR2):c.13957-10A>C
|
|
|
|
NM_001035.3(RYR2):c.14090+3_14090+6dup
|
|
|
|
NM_001035.3(RYR2):c.14091-12_14091-11dup
|
rs35563566
|
|
|
NM_001035.3(RYR2):c.14152-16dup
|
rs727503406
|
|
|
NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser)
|
rs193922622
|
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
|
NM_001035.3(RYR2):c.14590+7A>G
|
rs1553339087
|
|
|
NM_001035.3(RYR2):c.1468C>T (p.Gln490Ter)
|
rs2150218274
|
|
|
NM_001035.3(RYR2):c.14757-6del
|
rs1663791400
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
|
NM_001035.3(RYR2):c.14757-8dup
|
rs1663790050
|
|
|
NM_001035.3(RYR2):c.1477-11del
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1477-11dup
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1477-12_1477-11del
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1477-12_1477-11dup
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1477-13_1477-11del
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1477-13_1477-11dup
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1477-14_1477-11dup
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1612+13_1612+14delinsGC
|
rs1064795529
|
|
|
NM_001035.3(RYR2):c.1740A>G (p.Val580=)
|
rs2150412954
|
|
|
NM_001035.3(RYR2):c.1803del (p.Asp602fs)
|
rs2150413242
|
|
|
NM_001035.3(RYR2):c.1932G>A (p.Leu644=)
|
|
|
|
NM_001035.3(RYR2):c.1997G>A (p.Gly666Asp)
|
rs1428072554
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
|
NM_001035.3(RYR2):c.2119C>T (p.Pro707Ser)
|
|
|
|
NM_001035.3(RYR2):c.219C>T (p.Leu73=)
|
rs1057522387
|
|
|
NM_001035.3(RYR2):c.2218A>T (p.Thr740Ser)
|
rs779813798
|
|
|
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val)
|
rs794728729
|
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
|
NM_001035.3(RYR2):c.2433C>G (p.Phe811Leu)
|
|
|
|
NM_001035.3(RYR2):c.2613+8G>A
|
rs776678807
|
|
|
NM_001035.3(RYR2):c.274-7T>C
|
rs2149691778
|
|
|
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr)
|
rs1665922680
|
|
|
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)
|
rs727505044
|
|
|
NM_001035.3(RYR2):c.2825C>T (p.Thr942Ile)
|
|
|
|
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)
|
rs1042196921
|
|
|
NM_001035.3(RYR2):c.2983A>G (p.Met995Val)
|
|
|
|
NM_001035.3(RYR2):c.3067-1G>A
|
|
|
|
NM_001035.3(RYR2):c.3503T>C (p.Met1168Thr)
|
rs778702831
|
|
|
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly)
|
rs149760466
|
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
|
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)
|
rs794728761
|
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
|
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
|
|
|
|
NM_001035.3(RYR2):c.463+7A>C
|
|
|
|
NM_001035.3(RYR2):c.464-10A>G
|
rs1257588740
|
|
|
NM_001035.3(RYR2):c.464-9_464-8delinsCC
|
rs1572045142
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4784T>C (p.Leu1595Pro)
|
|
|
|
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=)
|
rs868510940
|
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
|
NM_001035.3(RYR2):c.5364G>C (p.Lys1788Asn)
|
|
|
|
NM_001035.3(RYR2):c.5384T>G (p.Leu1795Arg)
|
|
|
|
NM_001035.3(RYR2):c.596G>A (p.Gly199Asp)
|
|
|
|
NM_001035.3(RYR2):c.6022+14G>A
|
rs1370132495
|
|
|
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met)
|
rs1553529773
|
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
|
NM_001035.3(RYR2):c.6167-7T>C
|
rs1679840771
|
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
|
NM_001035.3(RYR2):c.640G>A (p.Val214Met)
|
rs1036926941
|
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
|
NM_001035.3(RYR2):c.6556-16C>T
|
rs1160418526
|
|
|
NM_001035.3(RYR2):c.6793-4G>T
|
rs568936247
|
|
|
NM_001035.3(RYR2):c.6838C>G (p.Leu2280Val)
|
rs1681098060
|
|
|
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)
|
rs727503401
|
|
|
NM_001035.3(RYR2):c.711G>C (p.Leu237=)
|
rs759018901
|
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
|
NM_001035.3(RYR2):c.7222-12dup
|
rs145140335
|
|
|
NM_001035.3(RYR2):c.749G>T (p.Gly250Val)
|
rs376925177
|
|
|
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe)
|
rs775400701
|
|
|
NM_001035.3(RYR2):c.7860T>A (p.Tyr2620Ter)
|
rs1415898681
|
|
|
NM_001035.3(RYR2):c.7903GAA[2] (p.Glu2637del)
|
rs1217786961
|
|
|
NM_001035.3(RYR2):c.848+18A>G
|
|
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
|
NM_001035.3(RYR2):c.9129-2A>G
|
rs1558245390
|
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
|
NM_001035.3(RYR2):c.9344A>G (p.His3115Arg)
|
|
|
|
NM_001035.3(RYR2):c.9361del (p.Asp3120_Leu3121insTer)
|
rs1687868371
|
|
|
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter)
|
rs939109036
|
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
|
NM_001036.6(RYR3):c.280-12T>C
|
|
|
|
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu)
|
rs1375857363
|
|
|
NM_001037.5(SCN1B):c.207+13C>T
|
rs373809858
|
|
|
NM_001037.5(SCN1B):c.448+135del
|
rs761070541
|
|
|
NM_001037.5(SCN1B):c.448+167C>G
|
rs529053826
|
|
|
NM_001037.5(SCN1B):c.448+189C>T
|
rs766373298
|
|
|
NM_001037.5(SCN1B):c.448+337G>T
|
rs369032304
|
|
|
NM_001037333.3(CYFIP2):c.1369A>G (p.Ile457Val)
|
|
|
|
NM_001037333.3(CYFIP2):c.1477G>A (p.Glu493Lys)
|
|
|
|
NM_001037333.3(CYFIP2):c.2909-16C>T
|
|
|
|
NM_001037333.3(CYFIP2):c.666+18G>A
|
|
|
|
NM_001039.4(SCNN1G):c.1295-13C>T
|
|
|
|
NM_001039141.3(TRIOBP):c.3737C>T (p.Pro1246Leu)
|
|
|
|
NM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly)
|
rs565618931
|
|
|
NM_001039141.3(TRIOBP):c.6325-9G>C
|
|
|
|
NM_001039591.3(USP9X):c.2636+15A>G
|
rs2147118360
|
|
|
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
|
|
|
|
NM_001039591.3(USP9X):c.654+9G>T
|
|
|
|
NM_001039591.3(USP9X):c.6631G>A (p.Asp2211Asn)
|
|
|
|
NM_001039876.3(SYNE4):c.1173del (p.Tyr392fs)
|
rs1326133563
|
|
|
NM_001039876.3(SYNE4):c.377del (p.Gly126fs)
|
|
|
|
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)
|
|
|
|
NM_001039876.3(SYNE4):c.973-2A>T
|
|
|
|
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)
|
rs1555439013
|
|
|
NM_001039958.2(MESP2):c.1A>G (p.Met1Val)
|
|
|
|
NM_001039958.2(MESP2):c.229G>A (p.Gly77Arg)
|
|
|
|
NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)
|
rs1218757887
|
|
|
NM_001039958.2(MESP2):c.558_573delinsAGGA (p.180QG[11])
|
|
|
|
NM_001039958.2(MESP2):c.832_838delinsACCCCTTG (p.Cys278fs)
|
|
|
|
NM_001039958.2(MESP2):c.837del (p.Trp280fs)
|
|
|
|
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)
|
|
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
|
NM_001040142.2(SCN2A):c.1156T>C (p.Trp386Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.1165C>A (p.Leu389Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.2764C>T (p.Arg922Cys)
|
rs1008211605
|
|
|
NM_001040142.2(SCN2A):c.3630C>G (p.Phe1210Leu)
|
rs371422797
|
|
|
NM_001040142.2(SCN2A):c.3850-13T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4596C>A (p.Val1532=)
|
|
|
|
NM_001040142.2(SCN2A):c.4736T>C (p.Val1579Ala)
|
rs1384116109
|
|
|
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)
|
rs1162322343
|
|
|
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
|
|
|
|
NM_001040616.3(LINS1):c.631+1G>A
|
|
|
|
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
|
|
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
|
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
|
NM_001041.4(SI):c.273_274del (p.Gly92fs)
|
|
|
|
NM_001041.4(SI):c.3586_3587del (p.Met1196fs)
|
rs780535026
|
|
|
NM_001041.4(SI):c.5198-20dup
|
rs566002300
|
|
|
NM_001042424.3(NSD2):c.1545A>C (p.Glu515Asp)
|
|
|
|
NM_001042424.3(NSD2):c.331C>T (p.Pro111Ser)
|
rs541714722
|
|
|
NM_001042424.3(NSD2):c.597+17G>A
|
|
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
|
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)
|
rs386833706
|
|
|
NM_001042432.2(CLN3):c.240del (p.Pro81fs)
|
rs748710466
|
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
|
NM_001042432.2(CLN3):c.443_445del (p.Val148del)
|
rs752130042
|
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
|
NM_001042432.2(CLN3):c.790+532_1056+1445del
|
|
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
|
NM_001042432.2(CLN3):c.917T>A (p.Leu306His)
|
|
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
|
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)
|
rs267606624
|
|
|
NM_001042492.3(NF1):c.*11CTTT[1]
|
|
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
|
NM_001042492.3(NF1):c.1332T>C (p.Gly444=)
|
rs1597688871
|
|
|
NM_001042492.3(NF1):c.1400C>A (p.Thr467Lys)
|
rs1567841729
|
|
|
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter)
|
rs1597698330
|
|
|
NM_001042492.3(NF1):c.1528-9dup
|
rs776722942
|
|
|
NM_001042492.3(NF1):c.154dup (p.Ser52fs)
|
|
|
|
NM_001042492.3(NF1):c.1764T>C (p.His588=)
|
rs1229784876
|
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
|
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro)
|
rs587778549
|
|
|
NM_001042492.3(NF1):c.1969T>A (p.Ser657Thr)
|
rs1471484159
|
|
|
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu)
|
rs2066993661
|
|
|
NM_001042492.3(NF1):c.2002-14C>G
|
|
|
|
NM_001042492.3(NF1):c.2028C>G (p.Thr676=)
|
rs878853873
|
|
|
NM_001042492.3(NF1):c.2099del (p.Thr700fs)
|
|
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
|
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro)
|
rs762709897
|
|
|
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)
|
rs1555614211
|
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
|
NM_001042492.3(NF1):c.2661A>G (p.Ala887=)
|
rs1555614292
|
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
|
NM_001042492.3(NF1):c.2739A>C (p.Ile913=)
|
|
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
|
NM_001042492.3(NF1):c.2850+17T>A
|
|
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
|
NM_001042492.3(NF1):c.3197+9dup
|
rs755212937
|
|
|
NM_001042492.3(NF1):c.3198-4del
|
rs371047262
|
|
|
NM_001042492.3(NF1):c.3315-2A>C
|
rs1555614914
|
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
|
NM_001042492.3(NF1):c.3432T>A (p.Cys1144Ter)
|
rs2067136971
|
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
|
NM_001042492.3(NF1):c.389A>G (p.His130Arg)
|
rs876660277
|
|
|
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe)
|
rs2151438597
|
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
|
NM_001042492.3(NF1):c.4430+14del
|
rs774927748
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
|
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs)
|
rs2067692232
|
|
|
NM_001042492.3(NF1):c.4783C>T (p.Gln1595Ter)
|
rs1597753263
|
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
|
NM_001042492.3(NF1):c.4790G>T (p.Gly1597Val)
|
rs2067766230
|
|
|
NM_001042492.3(NF1):c.4910del (p.Lys1637fs)
|
|
|
|
NM_001042492.3(NF1):c.5129del (p.Asp1710fs)
|
rs2069334590
|
|
|
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr)
|
rs1567611556
|
|
|
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)
|
rs1597832002
|
|
|
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys)
|
rs2143707725
|
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
|
NM_001042492.3(NF1):c.6072A>G (p.Gly2024=)
|
rs2151553361
|
|
|
NM_001042492.3(NF1):c.61-14del
|
rs376172637
|
|
|
NM_001042492.3(NF1):c.61-14dup
|
rs376172637
|
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
|
NM_001042492.3(NF1):c.6147+8C>T
|
rs182709912
|
|
|
NM_001042492.3(NF1):c.6148-17dup
|
rs33925668
|
|
|
NM_001042492.3(NF1):c.6148-18_6148-17dup
|
rs33925668
|
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
|
NM_001042492.3(NF1):c.6643-2A>G
|
rs1597844547
|
|
|
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=)
|
|
|
|
NM_001042492.3(NF1):c.6704+1G>A
|
rs1060500376
|
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
|
NM_001042492.3(NF1):c.6922-14_6922-13del
|
rs146785663
|
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
|
NM_001042492.3(NF1):c.7190-33TTGT[3]
|
rs149197458
|
|
|
NM_001042492.3(NF1):c.7190-33TTGT[5]
|
rs149197458
|
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
|
NM_001042492.3(NF1):c.7190-6T>C
|
rs1597858313
|
|
|
NM_001042492.3(NF1):c.731-8del
|
rs1438618408
|
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
|
NM_001042492.3(NF1):c.7359C>A (p.Cys2453Ter)
|
rs1555536126
|
|
|
NM_001042492.3(NF1):c.7409del (p.Asn2470fs)
|
|
|
|
NM_001042492.3(NF1):c.7458-18A>G
|
rs371362605
|
|
|
NM_001042492.3(NF1):c.753C>T (p.Asp251=)
|
rs1567826636
|
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
|
NM_001042492.3(NF1):c.7830T>G (p.Leu2610=)
|
rs1555536705
|
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
|
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter)
|
rs1555536713
|
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
|
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
|
NM_001042492.3(NF1):c.8286C>T (p.Tyr2762=)
|
rs1597870245
|
|
|
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile)
|
|
|
|
NM_001042492.3(NF1):c.8378-13T>C
|
rs903336927
|
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
|
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)
|
rs1555610893
|
|
|
NM_001042517.2(DIAPH3):c.1885A>T (p.Ile629Phe)
|
|
|
|
NM_001042545.2(LTBP4):c.1426+1G>T
|
|
|
|
NM_001042545.2(LTBP4):c.2150_2168delinsTCACCCT (p.Gln717_Ser723delinsLeuThrLeu)
|
|
|
|
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs)
|
rs59030801
|
|
|
NM_001042545.2(LTBP4):c.3866G>A (p.Gly1289Glu)
|
rs754438295
|
|
|
NM_001042545.2(LTBP4):c.4589del (p.Asp1530fs)
|
|
|
|
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)
|
rs1220133830
|
|
|
NM_001042631.3(SDHAF1):c.116A>C (p.His39Pro)
|
|
|
|
NM_001042631.3(SDHAF1):c.43T>C (p.Tyr15His)
|
|
|
|
NM_001042646.3(TRAK1):c.1A>G (p.Met1Val)
|
|
|
|
NM_001042681.2(RERE):c.1541-1G>T
|
rs2124375440
|
|
|
NM_001042681.2(RERE):c.1541-3_1541-1delinsAAT
|
rs2124375445
|
|
|
NM_001042681.2(RERE):c.2810C>T (p.Pro937Leu)
|
|
|
|
NM_001042681.2(RERE):c.2818C>T (p.Pro940Ser)
|
|
|
|
NM_001042681.2(RERE):c.3739G>A (p.Gly1247Arg)
|
|
|
|
NM_001042681.2(RERE):c.3791T>C (p.Val1264Ala)
|
|
|
|
NM_001042681.2(RERE):c.3841A>C (p.Thr1281Pro)
|
|
|
|
NM_001042681.2(RERE):c.4407C>T (p.Pro1469=)
|
|
|
|
NM_001042681.2(RERE):c.4626C>A (p.His1542Gln)
|
|
|
|
NM_001042750.2(STAG2):c.2025+20C>T
|
|
|
|
NM_001044385.3(TMEM237):c.553+4del
|
rs1957812369
|
|
|
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)
|
rs2105899200
|
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
|
NM_001046.3(SLC12A2):c.1279G>T (p.Gly427Ter)
|
|
|
|
NM_001048166.1(STIL):c.384dup (p.His129fs)
|
rs2149199098
|
|
|
NM_001048174.2(MUTYH):c.-6-5T>G
|
rs876660715
|
|
|
NM_001048174.2(MUTYH):c.1002C>T (p.Ala334=)
|
rs878854182
|
|
|
NM_001048174.2(MUTYH):c.1010A>T (p.Lys337Met)
|
rs1553126588
|
|
|
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs)
|
rs768130289
|
|
|
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)
|
rs763862261
|
|
|
NM_001048174.2(MUTYH):c.1055C>G (p.Pro352Arg)
|
rs774441289
|
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
|
|
NM_001048174.2(MUTYH):c.1080_1081delinsAT (p.Leu360_Leu361=)
|
rs1553126326
|
|
|
NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)
|
|
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
|
NM_001048174.2(MUTYH):c.115+3A>G
|
rs1553131280
|
|
|
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)
|
rs144079536
|
|
|
NM_001048174.2(MUTYH):c.1287G>A (p.Gly429=)
|
rs1553125186
|
|
|
NM_001048174.2(MUTYH):c.1305G>C (p.Gln435His)
|
rs1434384304
|
|
|
NM_001048174.2(MUTYH):c.1347G>A (p.Thr449=)
|
rs74318065
|
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
|
NM_001048174.2(MUTYH):c.1392+7C>T
|
rs1570361183
|
|
|
NM_001048174.2(MUTYH):c.1393-9_1393-7del
|
rs763940868
|
|
|
NM_001048174.2(MUTYH):c.1411G>A (p.Gly471Ser)
|
rs1553124088
|
|
|
NM_001048174.2(MUTYH):c.1434+10C>G
|
rs1644612688
|
|
|
NM_001048174.2(MUTYH):c.1464G>C (p.Pro488=)
|
rs143796254
|
|
|
NM_001048174.2(MUTYH):c.1471C>A (p.Arg491=)
|
rs754364718
|
|
|
NM_001048174.2(MUTYH):c.1485C>A (p.Arg495=)
|
rs773072703
|
|
|
NM_001048174.2(MUTYH):c.1494G>A (p.Gln498=)
|
rs1570312666
|
|
|
NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=)
|
rs1570311414
|
|
|
NM_001048174.2(MUTYH):c.1525A>C (p.Ile509Leu)
|
rs757615745
|
|
|
NM_001048174.2(MUTYH):c.196dup (p.Thr66fs)
|
|
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
|
NM_001048174.2(MUTYH):c.305-7C>T
|
rs863224698
|
|
|
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)
|
rs730881832
|
|
|
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)
|
rs587781295
|
|
|
NM_001048174.2(MUTYH):c.365C>T (p.Thr122Ile)
|
rs745507536
|
|
|
NM_001048174.2(MUTYH):c.390A>T (p.Thr130=)
|
rs780182847
|
|
|
NM_001048174.2(MUTYH):c.41A>T (p.Lys14Met)
|
rs1553131499
|
|
|
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)
|
rs876658641
|
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
|
NM_001048174.2(MUTYH):c.479_492+1del
|
rs766553845
|
|
|
NM_001048174.2(MUTYH):c.480G>C (p.Glu160Asp)
|
rs1335408660
|
|
|
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser)
|
rs764458059
|
|
|
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp)
|
rs761101420
|
|
|
NM_001048174.2(MUTYH):c.502G>A (p.Glu168Lys)
|
rs745921592
|
|
|
NM_001048174.2(MUTYH):c.518T>C (p.Met173Thr)
|
rs1553128600
|
|
|
NM_001048174.2(MUTYH):c.561G>A (p.Val187=)
|
rs1570416200
|
|
|
NM_001048174.2(MUTYH):c.568T>A (p.Tyr190Asn)
|
rs745808534
|
|
|
NM_001048174.2(MUTYH):c.587C>A (p.Ala196Asp)
|
rs1553128391
|
|
|
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser)
|
rs587782351
|
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
|
NM_001048174.2(MUTYH):c.652G>A (p.Val218Ile)
|
rs587780749
|
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
|
NM_001048174.2(MUTYH):c.65G>A (p.Arg22Lys)
|
rs1376695165
|
|
|
NM_001048174.2(MUTYH):c.690T>C (p.Val230=)
|
rs1645076441
|
|
|
NM_001048174.2(MUTYH):c.789C>A (p.Thr263=)
|
rs1557470723
|
|
|
NM_001048174.2(MUTYH):c.850-6T>G
|
|
|
|
NM_001048174.2(MUTYH):c.854A>T (p.Glu285Val)
|
rs1644998333
|
|
|
NM_001048174.2(MUTYH):c.867C>T (p.Leu289=)
|
rs11211096
|
|
|
NM_001048174.2(MUTYH):c.867_868del (p.Leu290fs)
|
rs2149134563
|
|
|
NM_001048174.2(MUTYH):c.872C>T (p.Ala291Val)
|
rs1570395209
|
|
|
NM_001048174.2(MUTYH):c.888G>A (p.Ser296=)
|
rs771683103
|
|
|
NM_001048174.2(MUTYH):c.929_930delinsGC (p.Gln310Arg)
|
rs587780083
|
|
|
NM_001060.6(TBXA2R):c.*841A>G
|
|
|
|
NM_001060.6(TBXA2R):c.186C>A (p.Ser62=)
|
|
|
|
NM_001060.6(TBXA2R):c.999G>T (p.Gln333His)
|
|
|
|
NM_001061.7(TBXAS1):c.1135-14G>A
|
|
|
|
NM_001061.7(TBXAS1):c.1365-10G>A
|
rs765137338
|
|
|
NM_001061.7(TBXAS1):c.813C>G (p.Ala271=)
|
|
|
|
NM_001061.7(TBXAS1):c.848T>C (p.Leu283Pro)
|
|
|
|
NM_001064.4(TKT):c.1016_1019dup (p.Asp341fs)
|
|
|
|
NM_001069.3(TUBB2A):c.228C>T (p.Val76=)
|
|
|
|
NM_001077207.4(SEC31A):c.2833C>T (p.Pro945Ser)
|
|
|
|
NM_001077207.4(SEC31A):c.511A>G (p.Ile171Val)
|
|
|
|
NM_001077207.4(SEC31A):c.944del (p.Asn315fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
|
|
|
|
NM_001077350.3(NPRL3):c.630-10CT[2]
|
|
|
|
NM_001077365.2(POMT1):c.1093G>C (p.Val365Leu)
|
|
|
|
NM_001077365.2(POMT1):c.1272+1G>A
|
rs2131751359
|
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
|
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His)
|
rs938573554
|
|
|
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)
|
rs1554772469
|
|
|
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
|
|
|
|
NM_001077415.3(CRELD1):c.*184G>A
|
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
|
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
|
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
|
NM_001077418.3(TMEM231):c.469G>C (p.Ala157Pro)
|
rs776437833
|
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
|
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)
|
rs397514754
|
|
|
NM_001077418.3(TMEM231):c.86T>C (p.Leu29Pro)
|
|
|
|
NM_001077446.4(TSEN34):c.250A>G (p.Thr84Ala)
|
rs2147079233
|
|
|
NM_001077446.4(TSEN34):c.488-2A>C
|
|
|
|
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly)
|
rs1573261820
|
|
|
NM_001079.4(ZAP70):c.1274T>A (p.Phe425Tyr)
|
rs764958623
|
|
|
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His)
|
rs1017182331
|
|
|
NM_001079.4(ZAP70):c.360C>T (p.Asp120=)
|
rs768492740
|
|
|
NM_001079.4(ZAP70):c.474C>T (p.His158=)
|
rs56404668
|
|
|
NM_001079.4(ZAP70):c.790+12_790+15dup
|
rs761349565
|
|
|
NM_001079668.3(NKX2-1):c.463+3_463+6del
|
rs1881201190
|
|
|
NM_001079802.2(FKTN):c.*4388del
|
rs148253503
|
|
|
NM_001079802.2(FKTN):c.*4397_*4401del
|
rs1047701788
|
|
|
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=)
|
rs146967918
|
|
|
NM_001079802.2(FKTN):c.105+6T>C
|
rs754468850
|
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
|
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=)
|
rs141886790
|
|
|
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)
|
rs752358445
|
|
|
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala)
|
rs142783718
|
|
|
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)
|
rs2132800044
|
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
|
NM_001079802.2(FKTN):c.665T>A (p.Val222Asp)
|
|
|
|
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg)
|
rs398123558
|
|
|
NM_001079802.2(FKTN):c.911-13A>G
|
rs766103012
|
|
|
NM_001079866.2(BCS1L):c.1186del (p.Val396fs)
|
|
|
|
NM_001079866.2(BCS1L):c.167G>A (p.Arg56Gln)
|
|
|
|
NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)
|
|
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
|
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter)
|
rs373105002
|
|
|
NM_001079866.2(BCS1L):c.487G>A (p.Glu163Lys)
|
|
|
|
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)
|
|
|
|
NM_001079872.2(CUL4B):c.1173+18C>G
|
|
|
|
NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met)
|
|
|
|
NM_001080414.4(CCDC88C):c.2171C>T (p.Ala724Val)
|
|
|
|
NM_001080414.4(CCDC88C):c.2233G>A (p.Asp745Asn)
|
|
|
|
NM_001080414.4(CCDC88C):c.2416C>T (p.Leu806Phe)
|
|
|
|
NM_001080414.4(CCDC88C):c.3301_3302del (p.Ser1101fs)
|
|
|
|
NM_001080414.4(CCDC88C):c.3811G>A (p.Glu1271Lys)
|
|
|
|
NM_001080414.4(CCDC88C):c.46C>T (p.Pro16Ser)
|
|
|
|
NM_001080426.3(STYXL2):c.2912_2913del (p.Thr971fs)
|
rs572127797
|
|
|
NM_001080449.3(DNA2):c.1059A>T (p.Glu353Asp)
|
|
|
|
NM_001080449.3(DNA2):c.1061T>A (p.Leu354Ter)
|
rs2133402732
|
|
|
NM_001080449.3(DNA2):c.1289C>T (p.Thr430Ile)
|
|
|
|
NM_001080449.3(DNA2):c.1763+12T>C
|
|
|
|
NM_001080449.3(DNA2):c.193C>T (p.Arg65Cys)
|
rs540241779
|
|
|
NM_001080449.3(DNA2):c.2698-20C>G
|
|
|
|
NM_001080449.3(DNA2):c.52G>T (p.Glu18Ter)
|
rs1554911818
|
|
|
NM_001080449.3(DNA2):c.720-9T>G
|
|
|
|
NM_001080449.3(DNA2):c.74+12G>A
|
|
|
|
NM_001080449.3(DNA2):c.74+17dup
|
|
|
|
NM_001080449.3(DNA2):c.984_985insAA (p.Glu329fs)
|
|
|
|
NM_001080453.3(INTS1):c.5470A>G (p.Ser1824Gly)
|
|
|
|
NM_001080517.3(SETD5):c.1513C>T (p.His505Tyr)
|
|
|
|
NM_001080517.3(SETD5):c.2758G>A (p.Val920Ile)
|
rs1053026933
|
|
|
NM_001080517.3(SETD5):c.316T>C (p.Cys106Arg)
|
|
|
|
NM_001080779.2(MYO1C):c.185C>T (p.Ala62Val)
|
|
|
|
NM_001081.4(CUBN):c.8909G>A (p.Arg2970His)
|
|
|
|
NM_001081550.2(THOC2):c.587T>A (p.Ile196Asn)
|
|
|
|
NM_001081550.2(THOC2):c.923A>G (p.Gln308Arg)
|
rs2147807004
|
|
|
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
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NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)
|
rs1566003392
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NM_001082538.3(TCTN1):c.1494+2T>C
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NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del)
|
rs2135826994
|
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NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
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|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
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NM_001082971.2(DDC):c.242C>T (p.Pro81Leu)
|
rs935725316
|
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NM_001082971.2(DDC):c.749C>T (p.Ser250Phe)
|
rs137853208
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NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu)
|
rs28933374
|
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NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
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NM_001083116.3(PRF1):c.1180C>T (p.Gln394Ter)
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NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg)
|
rs2132475562
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NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)
|
rs1361687182
|
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NM_001083116.3(PRF1):c.148G>A (p.Val50Met)
|
rs776299562
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NM_001083116.3(PRF1):c.150del (p.Thr51fs)
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NM_001083116.3(PRF1):c.1A>G (p.Met1Val)
|
rs1848222357
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NM_001083116.3(PRF1):c.380A>G (p.Asn127Ser)
|
rs202091142
|
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NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly)
|
rs142012387
|
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NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
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NM_001083116.3(PRF1):c.540-1G>T
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NM_001083116.3(PRF1):c.797T>C (p.Ile266Thr)
|
rs763667216
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NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)
|
rs745902829
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NM_001083116.3(PRF1):c.91T>G (p.Cys31Gly)
|
rs1848219856
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NM_001083116.3(PRF1):c.985dup (p.Val329fs)
|
rs1848171715
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NM_001083603.3(PTCH1):c.17G>C (p.Arg6Thr)
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NM_001083603.3(PTCH1):c.95C>T (p.Thr32Ile)
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NM_001083619.3(GRIA2):c.390C>T (p.Pro130=)
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NM_001083619.3(GRIA2):c.720+19A>T
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NM_001083961.2(WDR62):c.1768+17C>T
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NM_001083961.2(WDR62):c.269+1G>T
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NM_001083961.2(WDR62):c.3811G>A (p.Ala1271Thr)
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NM_001083962.2(TCF4):c.1062T>C (p.Ser354=)
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NM_001083962.2(TCF4):c.1147-3C>G
|
rs2056333687
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NM_001083962.2(TCF4):c.499+12C>G
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NM_001083962.2(TCF4):c.990G>A (p.Ser330=)
|
rs587784469
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NM_001085049.3(MRAS):c.-7G>A
|
rs368097379
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NM_001085049.3(MRAS):c.271G>A (p.Val91Ile)
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NM_001085049.3(MRAS):c.528-2del
|
rs541655371
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NM_001085049.3(MRAS):c.552GAA[4] (p.Lys189del)
|
rs752298978
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NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)
|
rs1576359216
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NM_001085458.2(CTNND1):c.1423A>G (p.Thr475Ala)
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|
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NM_001089.3(ABCA3):c.1112-20G>A
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NM_001089.3(ABCA3):c.115C>A (p.Leu39Ile)
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NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)
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NM_001089.3(ABCA3):c.1611+6G>A
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NM_001089.3(ABCA3):c.2012G>A (p.Arg671His)
|
rs759555069
|
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NM_001089.3(ABCA3):c.2741A>G (p.Lys914Arg)
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NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe)
|
rs1022923684
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NM_001089.3(ABCA3):c.3341C>T (p.Thr1114Met)
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NM_001089.3(ABCA3):c.3579C>G (p.Ile1193Met)
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NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met)
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NM_001089.3(ABCA3):c.4297G>C (p.Glu1433Gln)
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NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys)
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NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu)
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NM_001098511.3(KIF2A):c.1031G>A (p.Arg344Gln)
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NM_001098511.3(KIF2A):c.2136A>T (p.Leu712Phe)
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NM_001098514.3(C16orf89):c.479del (p.Asp160fs)
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NM_001098671.2(RASGRP2):c.1133A>T (p.Tyr378Phe)
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NM_001098671.2(RASGRP2):c.1159C>G (p.Arg387Gly)
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NM_001098671.2(RASGRP2):c.195G>A (p.Lys65=)
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NM_001098671.2(RASGRP2):c.456C>G (p.His152Gln)
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NM_001098816.3(TENM4):c.5383G>A (p.Val1795Met)
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NM_001098816.3(TENM4):c.7262A>T (p.Tyr2421Phe)
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NM_001098816.3(TENM4):c.7912C>T (p.Arg2638Trp)
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|
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NM_001099287.2(NIPAL4):c.-103_-99delinsT
|
rs1754050150
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NM_001099287.2(NIPAL4):c.11G>A (p.Arg4Gln)
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NM_001099287.2(NIPAL4):c.4G>T (p.Glu2Ter)
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NM_001099287.2(NIPAL4):c.587-2A>G
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NM_001099857.5(IKBKG):c.1056-6=
|
rs5945206
|
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NM_001099857.5(IKBKG):c.1060G>A (p.Glu354Lys)
|
rs782406063
|
|
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NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del)
|
rs386134238
|
|
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NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro)
|
rs386134240
|
|
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NM_001099857.5(IKBKG):c.519-3_519dup
|
rs1557236445
|
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NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)
|
rs2071133474
|
|
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NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn)
|
rs179363867
|
|
|
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)
|
rs121909521
|
|
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NM_001101.5(ACTB):c.213C>G (p.Ile71Met)
|
rs752744378
|
|
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NM_001101.5(ACTB):c.629G>A (p.Arg210His)
|
rs1064793444
|
|
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NM_001101.5(ACTB):c.984+3G>A
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|
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NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His)
|
rs939242678
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NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
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|
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NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)
|
rs200549195
|
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NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
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NM_001102416.3(KNG1):c.727T>G (p.Ser243Ala)
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|
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NM_001102469.2(LIPN):c.108+1G>A
|
rs928347834
|
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NM_001102469.2(LIPN):c.1092C>A (p.Tyr364Ter)
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NM_001102469.2(LIPN):c.1112G>A (p.Trp371Ter)
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NM_001102469.2(LIPN):c.246T>G (p.Tyr82Ter)
|
rs745861312
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NM_001102469.2(LIPN):c.302del (p.Gly101fs)
|
rs770938795
|
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NM_001102469.2(LIPN):c.399_400del (p.Glu133fs)
|
rs759880018
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NM_001102469.2(LIPN):c.58G>T (p.Gly20Ter)
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NM_001103.4(ACTN2):c.1098G>C (p.Lys366Asn)
|
rs1243320734
|
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NM_001103.4(ACTN2):c.126+13C>T
|
rs1440134547
|
|
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NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)
|
rs142943120
|
|
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NM_001103.4(ACTN2):c.1564G>A (p.Ala522Thr)
|
rs1455367143
|
|
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NM_001103.4(ACTN2):c.1704G>A (p.Ala568=)
|
rs369560444
|
|
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NM_001103.4(ACTN2):c.18C>A (p.Pro6=)
|
rs368367224
|
|
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NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr)
|
rs1659517244
|
|
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NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter)
|
rs2102947099
|
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NM_001103.4(ACTN2):c.2331T>G (p.Asp777Glu)
|
|
|
|
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)
|
rs148833906
|
|
|
NM_001103.4(ACTN2):c.2577C>T (p.Ala859=)
|
rs193922636
|
|
|
NM_001103.4(ACTN2):c.399G>A (p.Met133Ile)
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|
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NM_001103.4(ACTN2):c.537-13G>A
|
|
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|
NM_001103.4(ACTN2):c.537-9G>C
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|
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NM_001103.4(ACTN2):c.698-4T>A
|
rs1402138776
|
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NM_001103.4(ACTN2):c.918C>T (p.Asn306=)
|
rs148646265
|
|
|
NM_001103146.3(GIGYF2):c.1317G>C (p.Gln439His)
|
|
|
|
NM_001105206.3(LAMA4):c.1077+13G>C
|
|
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NM_001105206.3(LAMA4):c.1779T>C (p.His593=)
|
|
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NM_001105206.3(LAMA4):c.4170G>A (p.Arg1390=)
|
|
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|
NM_001105206.3(LAMA4):c.4967G>T (p.Gly1656Val)
|
rs41289900
|
|
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NM_001105206.3(LAMA4):c.5066A>T (p.His1689Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.5113-11A>G
|
|
|
|
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=)
|
rs71543223
|
|
|
NM_001105206.3(LAMA4):c.85G>A (p.Asp29Asn)
|
rs150662822
|
|
|
NM_001105247.2(ARMC5):c.1456A>C (p.Met486Leu)
|
|
|
|
NM_001105247.2(ARMC5):c.1771C>T (p.Leu591=)
|
|
|
|
NM_001109878.2(TBX22):c.868G>A (p.Val290Ile)
|
rs2147602532
|
|
|
NM_001110219.3(GJB6):c.159C>A (p.Cys53Ter)
|
|
|
|
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)
|
rs571454176
|
|
|
NM_001110219.3(GJB6):c.376del (p.Val126fs)
|
rs2137332907
|
|
|
NM_001110556.2(FLNA):c.*11C>T
|
|
|
|
NM_001110556.2(FLNA):c.-19dup
|
rs782079491
|
|
|
NM_001110556.2(FLNA):c.1117T>A (p.Tyr373Asn)
|
rs2148118056
|
|
|
NM_001110556.2(FLNA):c.1628A>G (p.Tyr543Cys)
|
rs41304984
|
|
|
NM_001110556.2(FLNA):c.2405-8_2405-5dup
|
rs782040815
|
|
|
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
|
|
|
|
NM_001110556.2(FLNA):c.2826+20C>T
|
|
|
|
NM_001110556.2(FLNA):c.2853T>C (p.Tyr951=)
|
|
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
|
NM_001110556.2(FLNA):c.3681G>A (p.Gly1227=)
|
rs1273882054
|
|
|
NM_001110556.2(FLNA):c.3805+15C>T
|
rs144968452
|
|
|
NM_001110556.2(FLNA):c.393C>A (p.Asp131Glu)
|
|
|
|
NM_001110556.2(FLNA):c.4142+17G>A
|
|
|
|
NM_001110556.2(FLNA):c.468C>T (p.Asp156=)
|
|
|
|
NM_001110556.2(FLNA):c.4A>T (p.Ser2Cys)
|
|
|
|
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp)
|
rs1557179659
|
|
|
NM_001110556.2(FLNA):c.5505C>T (p.Ser1835=)
|
|
|
|
NM_001110556.2(FLNA):c.5558-12_5558-10delinsCTT
|
|
|
|
NM_001110556.2(FLNA):c.6216C>T (p.Thr2072=)
|
|
|
|
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)
|
rs781999359
|
|
|
NM_001110792.2(MECP2):c.-31AG[2]
|
rs587783128
|
|
|
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter)
|
rs61752372
|
|
|
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr)
|
rs2148661261
|
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
|
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs)
|
rs267608585
|
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
|
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr)
|
rs1557135722
|
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
|
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys)
|
rs1569548273
|
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
|
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs)
|
rs2148666767
|
|
|
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser)
|
rs1557137845
|
|
|
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp)
|
rs267608450
|
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
|
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
|
|
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
|
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)
|
rs267608484
|
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
|
NM_001110792.2(MECP2):c.528C>T (p.Ser176=)
|
rs1557136964
|
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
|
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr)
|
rs61748426
|
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
|
NM_001110792.2(MECP2):c.62+5439T>C
|
rs2148763055
|
|
|
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
|
|
|
|
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu)
|
rs2065951467
|
|
|
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)
|
rs878853312
|
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)
|
rs878853313
|
|
|
NM_001110792.2(MECP2):c.746del (p.Gly249fs)
|
rs61749743
|
|
|
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp)
|
rs1557136591
|
|
|
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs)
|
rs1569548428
|
|
|
NM_001110792.2(MECP2):c.786C>G (p.Arg262=)
|
rs61748424
|
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
|
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
|
|
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
|
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met)
|
rs61751439
|
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
|
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser)
|
rs1557136171
|
|
|
NM_001111067.4(ACVR1):c.271G>A (p.Val91Met)
|
|
|
|
NM_001111125.3(IQSEC2):c.1000-17C>G
|
|
|
|
NM_001111125.3(IQSEC2):c.2404A>G (p.Met802Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.2781CCT[1] (p.Leu929del)
|
rs1602271471
|
|
|
NM_001111125.3(IQSEC2):c.619C>T (p.Arg207Cys)
|
|
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
|
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu)
|
rs1848763448
|
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
|
NM_001113491.2(SEPTIN9):c.19+2del
|
|
|
|
NM_001113525.2(ZNF276):c.*631G>A
|
|
|
|
NM_001114122.3(CHEK1):c.85A>G (p.Arg29Gly)
|
rs1555067411
|
|
|
NM_001114134.2(EPB42):c.1A>G (p.Met1Val)
|
|
|
|
NM_001114134.2(EPB42):c.971+8_971+9delinsAA
|
rs2142290623
|
|
|
NM_001114748.2(TMEM240):c.445G>A (p.Glu149Lys)
|
|
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
|
NM_001114753.3(ENG):c.492C>A (p.Asp164Glu)
|
|
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
|
NM_001122752.2(SERPINI1):c.757A>T (p.Met253Leu)
|
|
|
|
NM_001122764.3(PPOX):c.1047C>T (p.Asp349=)
|
|
|
|
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)
|
rs386834252
|
|
|
NM_001122769.3(LCA5):c.1979del (p.Ser660fs)
|
|
|
|
NM_001122769.3(LCA5):c.2011C>T (p.Arg671Ter)
|
rs765762174
|
|
|
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)
|
rs1286660951
|
|
|
NM_001122769.3(LCA5):c.550del (p.Ala184fs)
|
rs2127680021
|
|
|
NM_001122955.4(BSCL2):c.178C>T (p.Pro60Ser)
|
|
|
|
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln)
|
rs757991049
|
|
|
NM_001123385.2(BCOR):c.935_936delinsCC (p.Gln312Pro)
|
|
|
|
NM_001126049.2(KLLN):c.-1007C>G
|
rs587780001
|
|
|
NM_001126049.2(KLLN):c.-1007C>T
|
rs587780001
|
|
|
NM_001126049.2(KLLN):c.-1031G>A
|
rs1858333383
|
|
|
NM_001126049.2(KLLN):c.-1040C>A
|
|
|
|
NM_001126049.2(KLLN):c.-1046C>T
|
rs1394545143
|
|
|
NM_001126049.2(KLLN):c.-801C>T
|
rs1389966419
|
|
|
NM_001126049.2(KLLN):c.-914_-889del
|
rs786203072
|
|
|
NM_001126049.2(KLLN):c.-924G>C
|
rs1218806407
|
|
|
NM_001126049.2(KLLN):c.-935G>T
|
rs876661006
|
|
|
NM_001126049.2(KLLN):c.-949CAGGG[4]
|
rs587781357
|
|
|
NM_001126049.2(KLLN):c.-951G>A
|
rs1064793240
|
|
|
NM_001126049.2(KLLN):c.-952G>A
|
|
|
|
NM_001126049.2(KLLN):c.-963G>A
|
rs1554889877
|
|
|
NM_001126049.2(KLLN):c.-971A>C
|
|
|
|
NM_001126049.2(KLLN):c.-972G>A
|
rs1177963105
|
|
|
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
|
|
|
|
NM_001126108.2(SLC12A3):c.1160T>C (p.Leu387Pro)
|
|
|
|
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter)
|
rs747139582
|
|
|
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser)
|
rs1429832884
|
|
|
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)
|
rs781342495
|
|
|
NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met)
|
|
|
|
NM_001126108.2(SLC12A3):c.1568C>T (p.Ala523Val)
|
|
|
|
NM_001126108.2(SLC12A3):c.205C>A (p.His69Asn)
|
|
|
|
NM_001126108.2(SLC12A3):c.2286-18C>T
|
|
|
|
NM_001126108.2(SLC12A3):c.2369-2A>G
|
|
|
|
NM_001126108.2(SLC12A3):c.2720+8C>T
|
rs957373573
|
|
|
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
|
|
|
|
NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)
|
|
|
|
NM_001126108.2(SLC12A3):c.509T>A (p.Leu170Gln)
|
|
|
|
NM_001126108.2(SLC12A3):c.581C>T (p.Thr194Ile)
|
|
|
|
NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys)
|
|
|
|
NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly)
|
rs2055081574
|
|
|
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
|
|
|
|
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
|
rs748920885
|
|
|
NM_001126108.2(SLC12A3):c.964+1G>A
|
rs1596895536
|
|
|
NM_001126128.2(PROK2):c.297dup (p.Gly100fs)
|
rs768413190
|
|
|
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1072G>C (p.Val358Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
|
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs)
|
rs1555757523
|
|
|
NM_001127222.2(CACNA1A):c.2270C>G (p.Ser757Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2536G>A (p.Asp846Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
|
NM_001127222.2(CACNA1A):c.4250G>T (p.Arg1417Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
|
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)
|
rs2055848608
|
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
|
NM_001127222.2(CACNA1A):c.6056C>T (p.Ala2019Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.632-8C>G
|
rs762951690
|
|
|
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
|
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)
|
rs1064793075
|
|
|
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp)
|
rs750267834
|
|
|
NM_001127222.2(CACNA1A):c.7206G>A (p.Pro2402=)
|
|
|
|
NM_001127392.3(MYRF):c.425C>G (p.Ser142Trp)
|
rs2066143314
|
|
|
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser)
|
rs1755063824
|
|
|
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)
|
rs1556586479
|
|
|
NM_001127649.3(PEX26):c.230+1G>T
|
rs267608190
|
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
|
NM_001127671.2(LIFR):c.254del (p.Asn85fs)
|
rs886041545
|
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
|
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)
|
rs1745753552
|
|
|
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
|
rs797044813
|
|
|
NM_001127898.4(CLCN5):c.2199G>A (p.Thr733=)
|
|
|
|
NM_001128.6(AP1G1):c.1816G>A (p.Glu606Lys)
|
|
|
|
NM_001128.6(AP1G1):c.757T>C (p.Leu253=)
|
|
|
|
NM_001128159.3(VPS53):c.1704+1G>A
|
|
|
|
NM_001128159.3(VPS53):c.1787+1G>A
|
|
|
|
NM_001128159.3(VPS53):c.1A>G (p.Met1Val)
|
|
|
|
NM_001128159.3(VPS53):c.2223+5T>C
|
|
|
|
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
|
rs561656938
|
|
|
NM_001128159.3(VPS53):c.594del (p.Gln199fs)
|
|
|
|
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter)
|
rs370828258
|
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
|
NM_001128178.3(NPHP1):c.1269+4T>C
|
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
|
NM_001128178.3(NPHP1):c.1586A>G (p.Tyr529Cys)
|
rs1359420201
|
|
|
NM_001128178.3(NPHP1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
|
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)
|
rs387906221
|
|
|
NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe)
|
rs587782404
|
|
|
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=)
|
rs760321509
|
|
|
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)
|
rs746449748
|
|
|
NM_001128425.2(MUTYH):c.29G>A (p.Arg10His)
|
rs755928199
|
|
|
NM_001128425.2(MUTYH):c.9G>T (p.Pro3=)
|
rs958040221
|
|
|
NM_001128431.4(SLC39A14):c.21C>G (p.His7Gln)
|
|
|
|
NM_001128431.4(SLC39A14):c.628-2A>G
|
|
|
|
NM_001128840.3(CACNA1D):c.1581G>A (p.Trp527Ter)
|
|
|
|
NM_001128840.3(CACNA1D):c.1842G>A (p.Gly614=)
|
|
|
|
NM_001128840.3(CACNA1D):c.2160C>T (p.Gly720=)
|
rs927365957
|
|
|
NM_001128840.3(CACNA1D):c.4464A>G (p.Ile1488Met)
|
|
|
|
NM_001128840.3(CACNA1D):c.5629G>A (p.Asp1877Asn)
|
|
|
|
NM_001128840.3(CACNA1D):c.5681A>G (p.Asp1894Gly)
|
|
|
|
NM_001128840.3(CACNA1D):c.5832C>G (p.Pro1944=)
|
|
|
|
NM_001128840.3(CACNA1D):c.5936G>C (p.Arg1979Pro)
|
rs143354476
|
|
|
NM_001129820.2(SLFN14):c.1904+1G>T
|
rs552439070
|
|
|
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)
|
rs2140067871
|
|
|
NM_001130004.2(ACTN1):c.2290G>A (p.Gly764Ser)
|
|
|
|
NM_001130004.2(ACTN1):c.428-4A>T
|
|
|
|
NM_001130145.3(YAP1):c.62C>T (p.Ser21Leu)
|
|
|
|
NM_001130438.3(SPTAN1):c.1085+4C>T
|
|
|
|
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
|
|
|
|
NM_001130438.3(SPTAN1):c.2871+10dup
|
|
|
|
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro)
|
rs1564315528
|
|
|
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile)
|
rs1341044436
|
|
|
NM_001130698.2(TRPC3):c.158C>T (p.Pro53Leu)
|
|
|
|
NM_001130698.2(TRPC3):c.1778A>G (p.Gln593Arg)
|
|
|
|
NM_001130823.3(DNMT1):c.1492+3_1492+6del
|
|
|
|
NM_001130823.3(DNMT1):c.3524-5G>T
|
|
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
|
NM_001130987.2(DYSF):c.1149+5G>A
|
rs1023002894
|
|
|
NM_001130987.2(DYSF):c.1276+5G>C
|
rs766433603
|
|
|
NM_001130987.2(DYSF):c.1577-1645G>A
|
|
|
|
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
|
|
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
|
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=)
|
rs369607332
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
|
NM_001130987.2(DYSF):c.3325C>T (p.Arg1109Cys)
|
rs765271624
|
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
|
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
|
|
|
|
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)
|
rs61742872
|
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
|
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs)
|
rs2152940961
|
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
|
NM_001130987.2(DYSF):c.5174+5G>A
|
rs745891180
|
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
|
NM_001130987.2(DYSF):c.526T>G (p.Ser176Ala)
|
|
|
|
NM_001130987.2(DYSF):c.5406G>C (p.Glu1802Asp)
|
|
|
|
NM_001130987.2(DYSF):c.5412G>A (p.Val1804=)
|
|
|
|
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)
|
rs769873428
|
|
|
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)
|
rs886042880
|
|
|
NM_001130987.2(DYSF):c.5642+1G>A
|
rs727503915
|
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
|
NM_001130987.2(DYSF):c.5785-824C>T
|
rs1285082850
|
|
|
NM_001130987.2(DYSF):c.5885-1G>A
|
|
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
|
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp)
|
rs769180834
|
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
|
NM_001134363.3(RBM20):c.1338-9C>G
|
|
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
|
NM_001134363.3(RBM20):c.1900C>A (p.Arg634=)
|
rs796734066
|
|
|
NM_001134363.3(RBM20):c.1961C>T (p.Ser654Phe)
|
|
|
|
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser)
|
rs1844782473
|
|
|
NM_001134363.3(RBM20):c.2303C>G (p.Ser768Trp)
|
rs1417635
|
|
|
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu)
|
rs1417635
|
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
|
NM_001134363.3(RBM20):c.2687del (p.Glu896fs)
|
rs2135120754
|
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
|
NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu)
|
|
|
|
NM_001134363.3(RBM20):c.3317-20C>T
|
rs202039414
|
|
|
NM_001134363.3(RBM20):c.3317-21_3317-20delinsTT
|
rs1844942393
|
|
|
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met)
|
rs77110978
|
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
|
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe)
|
rs753102653
|
|
|
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg)
|
rs183130427
|
|
|
NM_001134363.3(RBM20):c.532C>A (p.Arg178=)
|
rs794729161
|
|
|
NM_001134407.3(GRIN2A):c.3391G>T (p.Asp1131Tyr)
|
rs1243412120
|
|
|
NM_001134407.3(GRIN2A):c.3914G>C (p.Ser1305Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.4235G>C (p.Cys1412Ser)
|
rs1900675462
|
|
|
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter)
|
rs2044763223
|
|
|
NM_001134673.4(NFIA):c.946+16G>T
|
|
|
|
NM_001134793.2(HYLS1):c.268C>T (p.Arg90Ter)
|
|
|
|
NM_001134793.2(HYLS1):c.523G>T (p.Glu175Ter)
|
rs1482689330
|
|
|
NM_001134793.2(HYLS1):c.546C>G (p.Tyr182Ter)
|
rs149584336
|
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
|
NM_001134831.2(AHI1):c.1983del (p.Trp662fs)
|
rs1459452503
|
|
|
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
|
|
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
|
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
|
|
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
|
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
|
|
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
|
NM_001134831.2(AHI1):c.917del (p.Lys306fs)
|
rs1181159671
|
|
|
NM_001135629.3(PPP1R21):c.1868C>G (p.Ser623Ter)
|
|
|
|
NM_001135651.3(EIF2AK2):c.1504A>G (p.Ile502Val)
|
|
|
|
NM_001135998.3(NDUFB11):c.282C>T (p.Gly94=)
|
|
|
|
NM_001136035.4(TRMT1):c.1107-13C>T
|
|
|
|
NM_001136035.4(TRMT1):c.1228C>T (p.Arg410Cys)
|
|
|
|
NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)
|
|
|
|
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys)
|
rs879255271
|
|
|
NM_001136157.2(OTUD5):c.377_403del (p.Ala126_Gly134del)
|
rs1268568488
|
|
|
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter)
|
rs1559359546
|
|
|
NM_001136193.2(FASTKD2):c.991-2A>G
|
|
|
|
NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro)
|
rs61743032
|
|
|
NM_001139.3(ALOX12B):c.1071+2T>C
|
|
|
|
NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr)
|
rs1977099347
|
|
|
NM_001139.3(ALOX12B):c.1926+1G>A
|
rs2151820983
|
|
|
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn)
|
rs397514530
|
|
|
NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs)
|
rs1977208852
|
|
|
NM_001139.3(ALOX12B):c.928-2A>G
|
rs1567982673
|
|
|
NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)
|
|
|
|
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val)
|
rs540611114
|
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
|
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)
|
rs992863438
|
|
|
NM_001142800.2(EYS):c.2803G>A (p.Glu935Lys)
|
rs1403474828
|
|
|
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
|
|
|
|
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
|
|
|
|
NM_001142800.2(EYS):c.4606C>G (p.Gln1536Glu)
|
rs557152369
|
|
|
NM_001142800.2(EYS):c.492_499del (p.Leu165fs)
|
rs1270977202
|
|
|
NM_001142800.2(EYS):c.4963T>A (p.Leu1655Met)
|
|
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
|
NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs)
|
rs2149830976
|
|
|
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs)
|
rs2149830970
|
|
|
NM_001142800.2(EYS):c.6079-24TC[10]
|
rs35395170
|
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
|
NM_001142800.2(EYS):c.7624G>T (p.Val2542Phe)
|
rs2149670380
|
|
|
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)
|
rs527236064
|
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
|
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
|
|
|
|
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs)
|
rs2149624980
|
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
|
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)
|
rs1427770112
|
|
|
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)
|
rs772549804
|
|
|
NM_001142800.2(EYS):c.9178A>C (p.Ile3060Leu)
|
|
|
|
NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs)
|
|
|
|
NM_001142800.2(EYS):c.9248G>A (p.Gly3083Asp)
|
|
|
|
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)
|
rs869312188
|
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
|
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)
|
rs1166245419
|
|
|
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs)
|
rs1270198704
|
|
|
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs)
|
rs1904304634
|
|
|
NM_001142966.3(GREB1L):c.4698G>T (p.Met1566Ile)
|
|
|
|
NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter)
|
rs2037623971
|
|
|
NM_001142966.3(GREB1L):c.570dup (p.Phe191fs)
|
|
|
|
NM_001144967.3(NEDD4L):c.968G>C (p.Gly323Ala)
|
rs991844120
|
|
|
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
|
|
|
|
NM_001145026.2(PTPRQ):c.563T>C (p.Phe188Ser)
|
|
|
|
NM_001145073.3(USP27X):c.89C>T (p.Ser30Leu)
|
|
|
|
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter)
|
rs1555444885
|
|
|
NM_001145358.2(SIN3A):c.2093+18C>T
|
|
|
|
NM_001145358.2(SIN3A):c.2577C>T (p.Gly859=)
|
|
|
|
NM_001145358.2(SIN3A):c.2893A>G (p.Met965Val)
|
|
|
|
NM_001145358.2(SIN3A):c.2900G>A (p.Arg967Gln)
|
|
|
|
NM_001145358.2(SIN3A):c.377C>T (p.Ala126Val)
|
|
|
|
NM_001145358.2(SIN3A):c.624T>C (p.Val208=)
|
|
|
|
NM_001145536.2(C17orf107):c.*1010C>G
|
rs774425374
|
|
|
NM_001145809.2(MYH14):c.1021G>C (p.Gly341Arg)
|
|
|
|
NM_001145809.2(MYH14):c.1343T>C (p.Leu448Pro)
|
|
|
|
NM_001145809.2(MYH14):c.140A>T (p.Gln47Leu)
|
|
|
|
NM_001145809.2(MYH14):c.2585+12C>T
|
|
|
|
NM_001145809.2(MYH14):c.2821G>A (p.Ala941Thr)
|
|
|
|
NM_001145809.2(MYH14):c.3941G>A (p.Arg1314His)
|
|
|
|
NM_001145809.2(MYH14):c.4539+14G>A
|
rs779431768
|
|
|
NM_001145809.2(MYH14):c.4616G>T (p.Arg1539Leu)
|
rs576482145
|
|
|
NM_001145809.2(MYH14):c.5959C>T (p.Arg1987Ter)
|
rs727503230
|
|
|
NM_001148.6(ANK2):c.10054G>C (p.Val3352Leu)
|
|
|
|
NM_001148.6(ANK2):c.10310T>C (p.Ile3437Thr)
|
rs886039169
|
|
|
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser)
|
rs55726422
|
|
|
NM_001148.6(ANK2):c.10425A>G (p.Ile3475Met)
|
rs1554572397
|
|
|
NM_001148.6(ANK2):c.10734T>C (p.Asp3578=)
|
|
|
|
NM_001148.6(ANK2):c.10962A>G (p.Glu3654=)
|
rs1564112382
|
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
|
NM_001148.6(ANK2):c.11032+17G>A
|
rs587780853
|
|
|
NM_001148.6(ANK2):c.11032+19delinsGTG
|
rs2096464205
|
|
|
NM_001148.6(ANK2):c.11032+8TG[6]
|
rs749676836
|
|
|
NM_001148.6(ANK2):c.11262A>G (p.Ser3754=)
|
rs780604005
|
|
|
NM_001148.6(ANK2):c.11540T>A (p.Val3847Glu)
|
rs1554590569
|
|
|
NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys)
|
rs377555678
|
|
|
NM_001148.6(ANK2):c.2396C>T (p.Ala799Val)
|
rs776957456
|
|
|
NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup)
|
rs770530257
|
|
|
NM_001148.6(ANK2):c.266C>A (p.Ser89Tyr)
|
|
|
|
NM_001148.6(ANK2):c.2900+5G>A
|
rs768275410
|
|
|
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)
|
rs56173868
|
|
|
NM_001148.6(ANK2):c.4055A>G (p.Asp1352Gly)
|
rs2153979257
|
|
|
NM_001148.6(ANK2):c.4371+19T>C
|
rs1057522286
|
|
|
NM_001148.6(ANK2):c.4695C>T (p.Ile1565=)
|
|
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
|
NM_001148.6(ANK2):c.7420G>A (p.Val2474Ile)
|
|
|
|
NM_001148.6(ANK2):c.8133G>T (p.Gln2711His)
|
rs771607762
|
|
|
NM_001148.6(ANK2):c.9751G>C (p.Ala3251Pro)
|
rs2095950515
|
|
|
NM_001151.4(SLC25A4):c.-15C>A
|
|
|
|
NM_001151.4(SLC25A4):c.523del (p.Gln175fs)
|
rs863224209
|
|
|
NM_001151.4(SLC25A4):c.60C>A (p.Ala20=)
|
|
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
|
NM_001159702.3(FHL1):c.754G>A (p.Gly252Arg)
|
|
|
|
NM_001160036.2(RHOBTB2):c.20G>A (p.Gly7Asp)
|
rs186695833
|
|
|
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)
|
|
|
|
NM_001161352.2(KCNMA1):c.1224-14C>T
|
|
|
|
NM_001161352.2(KCNMA1):c.2327G>T (p.Arg776Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)
|
rs1555528807
|
|
|
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del)
|
rs752334052
|
|
|
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
|
|
|
|
NM_001162501.2(TNRC6B):c.3064_3068dup (p.Gly1025fs)
|
rs2146512032
|
|
|
NM_001162501.2(TNRC6B):c.3936+8G>A
|
|
|
|
NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)
|
|
|
|
NM_001162501.2(TNRC6B):c.3995G>T (p.Gly1332Val)
|
|
|
|
NM_001162501.2(TNRC6B):c.4577C>G (p.Thr1526Ser)
|
|
|
|
NM_001162501.2(TNRC6B):c.5191C>G (p.Gln1731Glu)
|
|
|
|
NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs)
|
rs869320769
|
|
|
NM_001164277.2(SLC37A4):c.*66_*68del
|
|
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
|
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)
|
rs121908975
|
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>T
|
rs1943672400
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>A
|
|
|
|
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
|
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)
|
rs781857990
|
|
|
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
|
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)
|
rs369399624
|
|
|
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.681G>A (p.Trp227Ter)
|
rs2134635160
|
|
|
NM_001164277.2(SLC37A4):c.872-2A>C
|
rs920196110
|
|
|
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
|
rs2134631619
|
|
|
NM_001164508.2(NEB):c.10175G>A (p.Arg3392Lys)
|
rs2154058460
|
|
|
NM_001164508.2(NEB):c.1035+1G>A
|
|
|
|
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
|
|
|
|
NM_001164508.2(NEB):c.1051G>A (p.Asp351Asn)
|
rs2149873825
|
|
|
NM_001164508.2(NEB):c.10775G>A (p.Ser3592Asn)
|
rs2154022323
|
|
|
NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)
|
|
|
|
NM_001164508.2(NEB):c.11326C>G (p.His3776Asp)
|
rs770398302
|
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
|
NM_001164508.2(NEB):c.11601+6T>A
|
|
|
|
NM_001164508.2(NEB):c.11870A>G (p.Asp3957Gly)
|
rs766565558
|
|
|
NM_001164508.2(NEB):c.14827-2A>C
|
|
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1])
|
rs377452683
|
|
|
NM_001164508.2(NEB):c.1623del (p.Asp542fs)
|
rs772366030
|
|
|
NM_001164508.2(NEB):c.16704+1G>A
|
rs1227806763
|
|
|
NM_001164508.2(NEB):c.16910_16911inv (p.Pro5637Leu)
|
|
|
|
NM_001164508.2(NEB):c.17827A>G (p.Asn5943Asp)
|
rs1380251124
|
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
|
NM_001164508.2(NEB):c.18693+4A>C
|
|
|
|
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
|
|
|
|
NM_001164508.2(NEB):c.18820C>T (p.His6274Tyr)
|
rs2153711522
|
|
|
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter)
|
rs1559952676
|
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
|
NM_001164508.2(NEB):c.19428+16C>T
|
rs1022784479
|
|
|
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
|
|
|
|
NM_001164508.2(NEB):c.19626+1G>A
|
rs756352186
|
|
|
NM_001164508.2(NEB):c.20157+5C>T
|
|
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
|
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)
|
rs1559680233
|
|
|
NM_001164508.2(NEB):c.21141del (p.Ile7047fs)
|
rs2093339890
|
|
|
NM_001164508.2(NEB):c.21313-7T>A
|
rs916066756
|
|
|
NM_001164508.2(NEB):c.21418-6del
|
rs56026241
|
|
|
NM_001164508.2(NEB):c.21419T>A (p.Ile7140Asn)
|
|
|
|
NM_001164508.2(NEB):c.21533A>G (p.Lys7178Arg)
|
rs1279019316
|
|
|
NM_001164508.2(NEB):c.22161+18G>C
|
rs6721666
|
|
|
NM_001164508.2(NEB):c.22479+5T>A
|
|
|
|
NM_001164508.2(NEB):c.2310+5G>A
|
|
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
|
NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)
|
|
|
|
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)
|
rs1161478770
|
|
|
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)
|
rs140967744
|
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
|
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala)
|
rs1323764871
|
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
|
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=)
|
rs781581005
|
|
|
NM_001164508.2(NEB):c.2415+1G>A
|
rs1057524581
|
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
|
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs)
|
rs747564597
|
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
|
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs)
|
rs2152822941
|
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
|
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)
|
rs760200697
|
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
|
NM_001164508.2(NEB):c.25405-17dup
|
rs148839798
|
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
|
NM_001164508.2(NEB):c.36+4A>G
|
|
|
|
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg)
|
rs765671775
|
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
|
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
|
NM_001164508.2(NEB):c.4396G>A (p.Ala1466Thr)
|
rs2099279944
|
|
|
NM_001164508.2(NEB):c.5246A>G (p.Tyr1749Cys)
|
|
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
|
NM_001164508.2(NEB):c.5849A>C (p.Lys1950Thr)
|
rs758655350
|
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
|
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn)
|
rs2099075647
|
|
|
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala)
|
rs1558825869
|
|
|
NM_001164508.2(NEB):c.734del (p.Gly245fs)
|
rs1559573882
|
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
|
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
|
|
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
|
NM_001164508.2(NEB):c.8994+5G>A
|
|
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
|
NM_001165963.4(SCN1A):c.1259del (p.Ala420fs)
|
rs2105862149
|
|
|
NM_001165963.4(SCN1A):c.126del (p.Asp43fs)
|
rs1553560831
|
|
|
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs)
|
rs1553546836
|
|
|
NM_001165963.4(SCN1A):c.1572A>T (p.Glu524Asp)
|
|
|
|
NM_001165963.4(SCN1A):c.2043+1G>A
|
rs751533302
|
|
|
NM_001165963.4(SCN1A):c.2044-5del
|
rs549232924
|
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
|
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile)
|
rs1057518112
|
|
|
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg)
|
rs749638533
|
|
|
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)
|
rs1057521746
|
|
|
NM_001165963.4(SCN1A):c.4339-12C>A
|
rs776548109
|
|
|
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
|
|
NM_001165963.4(SCN1A):c.4467del (p.Lys1491fs)
|
rs1559118914
|
|
|
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs)
|
rs1689682880
|
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
|
NM_001165963.4(SCN1A):c.4916G>A (p.Arg1639His)
|
|
|
|
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)
|
rs121918622
|
|
|
NM_001165963.4(SCN1A):c.5117A>C (p.Asn1706Thr)
|
rs1553520340
|
|
|
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu)
|
rs1553520293
|
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
|
NM_001165963.4(SCN1A):c.5233A>T (p.Lys1745Ter)
|
|
|
|
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser)
|
rs797045940
|
|
|
NM_001165963.4(SCN1A):c.5407G>A (p.Asp1803Asn)
|
rs1553520143
|
|
|
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)
|
rs1559100385
|
|
|
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)
|
rs77216276
|
|
|
NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=)
|
rs1351809843
|
|
|
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln)
|
rs556893466
|
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
|
NM_001165963.4(SCN1A):c.900T>A (p.Tyr300Ter)
|
|
|
|
NM_001165963.4(SCN1A):c.964+12_964+15del
|
|
|
|
NM_001165963.4(SCN1A):c.980dup (p.Glu328fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
|
NM_001167.4(XIAP):c.616_622delinsC (p.Lys206_Lys208delinsGln)
|
|
|
|
NM_001170629.2(CHD8):c.1093C>T (p.Gln365Ter)
|
rs746163664
|
|
|
NM_001170629.2(CHD8):c.1717-21dup
|
|
|
|
NM_001170629.2(CHD8):c.2611A>G (p.Ile871Val)
|
|
|
|
NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)
|
|
|
|
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile)
|
rs1888123647
|
|
|
NM_001170629.2(CHD8):c.416C>G (p.Ser139Cys)
|
rs1889549675
|
|
|
NM_001170629.2(CHD8):c.4780G>A (p.Asp1594Asn)
|
|
|
|
NM_001170629.2(CHD8):c.5052-18G>A
|
|
|
|
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)
|
rs751094013
|
|
|
NM_001170629.2(CHD8):c.7256C>A (p.Ala2419Asp)
|
|
|
|
NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)
|
|
|
|
NM_001172509.2(SATB2):c.1543-8C>G
|
|
|
|
NM_001172509.2(SATB2):c.2129T>A (p.Met710Lys)
|
|
|
|
NM_001173464.2(KIF21A):c.1417GAG[1] (p.Glu474del)
|
|
|
|
NM_001173464.2(KIF21A):c.3779+16T>A
|
|
|
|
NM_001173976.2(TCTN1):c.1011-2_1012del
|
|
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
|
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)
|
rs267607065
|
|
|
NM_001174089.2(SLC4A11):c.1168+3G>A
|
|
|
|
NM_001174089.2(SLC4A11):c.1489+6T>C
|
|
|
|
NM_001174089.2(SLC4A11):c.1675G>A (p.Val559Met)
|
|
|
|
NM_001174089.2(SLC4A11):c.1772T>G (p.Ile591Ser)
|
|
|
|
NM_001174089.2(SLC4A11):c.337G>A (p.Asp113Asn)
|
|
|
|
NM_001174089.2(SLC4A11):c.44-91A>G
|
|
|
|
NM_001174089.2(SLC4A11):c.590C>T (p.Ser197Leu)
|
|
|
|
NM_001174089.2(SLC4A11):c.728T>C (p.Met243Thr)
|
|
|
|
NM_001174089.2(SLC4A11):c.93C>G (p.Tyr31Ter)
|
|
|
|
NM_001174147.2(LMX1B):c.273C>T (p.Thr91=)
|
|
|
|
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
|
|
|
|
NM_001174150.2(ARL13B):c.59+1G>A
|
|
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
|
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
|
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
|
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
|
|
|
|
NM_001177316.2(SLC34A3):c.*14A>C
|
rs28591989
|
|
|
NM_001177316.2(SLC34A3):c.*14A>T
|
|
|
|
NM_001177316.2(SLC34A3):c.-39-94C>T
|
rs1554782458
|
|
|
NM_001177316.2(SLC34A3):c.-40+71G>A
|
rs1554782358
|
|
|
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu)
|
rs121918235
|
|
|
NM_001177316.2(SLC34A3):c.1335+257T>G
|
rs1554784918
|
|
|
NM_001177316.2(SLC34A3):c.560+22T>C
|
rs1554783285
|
|
|
NM_001177316.2(SLC34A3):c.847-45T>A
|
rs1554783966
|
|
|
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys)
|
rs747597620
|
|
|
NM_001182.5(ALDH7A1):c.1A>G (p.Met1Val)
|
|
|
|
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val)
|
rs375491094
|
|
|
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs)
|
rs1444879414
|
|
|
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs)
|
rs1373022366
|
|
|
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro)
|
rs796052260
|
|
|
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter)
|
rs1204010423
|
|
|
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser)
|
rs121912711
|
|
|
NM_001183.6(ATP6AP1):c.1159C>T (p.Arg387Cys)
|
|
|
|
NM_001184.4(ATR):c.3120G>A (p.Leu1040=)
|
rs28910272
|
|
|
NM_001184.4(ATR):c.4153-10del
|
rs112116713
|
|
|
NM_001184.4(ATR):c.4153-21dup
|
rs112116713
|
|
|
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn)
|
rs1064794763
|
|
|
NM_001184880.2(PCDH19):c.1711G>C (p.Gly571Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met)
|
rs1221643775
|
|
|
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
|
|
|
|
NM_001190274.2(FBXO11):c.1673G>C (p.Arg558Pro)
|
|
|
|
NM_001190274.2(FBXO11):c.2447-10T>C
|
|
|
|
NM_001190274.2(FBXO11):c.2655-14T>G
|
|
|
|
NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)
|
|
|
|
NM_001190274.2(FBXO11):c.718-7A>G
|
|
|
|
NM_001190737.2(NFIB):c.1118T>G (p.Ile373Ser)
|
|
|
|
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)
|
rs764333096
|
|
|
NM_001190880.3(HYI):c.312-19C>G
|
|
|
|
NM_001193313.2(SUGCT):c.313-1G>C
|
|
|
|
NM_001193313.2(SUGCT):c.314G>A (p.Ser105Asn)
|
|
|
|
NM_001193315.2(VIPAS39):c.1038A>G (p.Thr346=)
|
|
|
|
NM_001193315.2(VIPAS39):c.225T>C (p.Ala75=)
|
|
|
|
NM_001193315.2(VIPAS39):c.253C>T (p.Arg85Cys)
|
|
|
|
NM_001193315.2(VIPAS39):c.842C>G (p.Pro281Arg)
|
|
|
|
NM_001194.4(HCN2):c.371C>T (p.Ser124Leu)
|
|
|
|
NM_001194998.2(CEP152):c.1783-1G>C
|
|
|
|
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
|
rs1555418825
|
|
|
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
|
|
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
|
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr)
|
rs1437526128
|
|
|
NM_001197104.2(KMT2A):c.134C>G (p.Pro45Arg)
|
rs2134152876
|
|
|
NM_001197104.2(KMT2A):c.1877G>A (p.Arg626Lys)
|
|
|
|
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn)
|
rs1177309170
|
|
|
NM_001197104.2(KMT2A):c.2544G>C (p.Gly848=)
|
|
|
|
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter)
|
rs1555043796
|
|
|
NM_001197104.2(KMT2A):c.6446G>C (p.Arg2149Pro)
|
|
|
|
NM_001197104.2(KMT2A):c.7193A>T (p.Glu2398Val)
|
|
|
|
NM_001197104.2(KMT2A):c.7463A>G (p.Asp2488Gly)
|
|
|
|
NM_001197104.2(KMT2A):c.841C>G (p.Leu281Val)
|
|
|
|
NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)
|
rs2134400611
|
|
|
NM_001197104.2(KMT2A):c.9953G>C (p.Gly3318Ala)
|
rs1950572153
|
|
|
NM_001198533.2(OXR1):c.2037+3G>A
|
rs2131557742
|
|
|
NM_001199138.2(NLRC4):c.263-3T>C
|
|
|
|
NM_001199563.2(BVES):c.518dup (p.Ser174fs)
|
|
|
|
NM_001199753.2(CPT1C):c.1160+3A>G
|
|
|
|
NM_001199753.2(CPT1C):c.1577C>G (p.Ser526Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.1611G>A (p.Leu537=)
|
|
|
|
NM_001199753.2(CPT1C):c.826G>A (p.Val276Ile)
|
|
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del
|
rs869312426
|
|
|
NM_001201543.2(FAM161A):c.102C>A (p.Asp34Glu)
|
rs377215266
|
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
|
NM_001201543.2(FAM161A):c.2034_2037del (p.Glu680fs)
|
rs748147923
|
|
|
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
|
|
|
|
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)
|
rs2105111295
|
|
|
NM_001201550.3(CFHR4):c.1206G>A (p.Glu402=)
|
|
|
|
NM_001201550.3(CFHR4):c.1471T>G (p.Tyr491Asp)
|
|
|
|
NM_001201550.3(CFHR4):c.204G>A (p.Trp68Ter)
|
|
|
|
NM_001201550.3(CFHR4):c.440-11T>C
|
|
|
|
NM_001201550.3(CFHR4):c.800-2A>G
|
|
|
|
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
|
|
|
|
NM_001205293.3(CACNA1E):c.1224A>G (p.Glu408=)
|
|
|
|
NM_001205293.3(CACNA1E):c.1598G>A (p.Arg533His)
|
rs999139568
|
|
|
NM_001205293.3(CACNA1E):c.2143-1G>T
|
|
|
|
NM_001205293.3(CACNA1E):c.4273A>G (p.Thr1425Ala)
|
|
|
|
NM_001205293.3(CACNA1E):c.4816-19A>T
|
|
|
|
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)
|
|
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
|
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)
|
|
|
|
NM_001206744.2(TPO):c.1970T>C (p.Ile657Thr)
|
|
|
|
NM_001206744.2(TPO):c.2386G>A (p.Asp796Asn)
|
|
|
|
NM_001206744.2(TPO):c.2492T>G (p.Leu831Ter)
|
|
|
|
NM_001206744.2(TPO):c.2513G>A (p.Cys838Tyr)
|
|
|
|
NM_001206744.2(TPO):c.2723_2732del (p.Arg908fs)
|
|
|
|
NM_001220.5(CAMK2B):c.1881C>T (p.Asp627=)
|
rs1463275169
|
|
|
NM_001220.5(CAMK2B):c.391G>C (p.Gly131Arg)
|
|
|
|
NM_001220.5(CAMK2B):c.414+16A>T
|
|
|
|
NM_001231.5(CASQ1):c.1168G>A (p.Asp390Asn)
|
|
|
|
NM_001231.5(CASQ1):c.829-9C>G
|
|
|
|
NM_001231.5(CASQ1):c.985-1G>A
|
|
|
|
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly)
|
rs1280686043
|
|
|
NM_001232.4(CASQ2):c.1085T>C (p.Ile362Thr)
|
rs1557783735
|
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
|
NM_001232.4(CASQ2):c.420+17A>T
|
|
|
|
NM_001232.4(CASQ2):c.738-10_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-12_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-6_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-8_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-9_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.992T>C (p.Ile331Thr)
|
rs2101053760
|
|
|
NM_001235.5(SERPINH1):c.1243C>T (p.Arg415Ter)
|
|
|
|
NM_001235.5(SERPINH1):c.774G>A (p.Met258Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.1218-13G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)
|
rs542384516
|
|
|
NM_001242896.3(DEPDC5):c.2995C>A (p.Arg999=)
|
rs375050296
|
|
|
NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys)
|
rs777509933
|
|
|
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter)
|
rs1603014708
|
|
|
NM_001242896.3(DEPDC5):c.483+6A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.871+13T>A
|
|
|
|
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs)
|
rs1196153507
|
|
|
NM_001242957.3(MAK):c.1376C>G (p.Pro459Arg)
|
rs2127532782
|
|
|
NM_001242957.3(MAK):c.1802G>A (p.Trp601Ter)
|
|
|
|
NM_001242957.3(MAK):c.393dup (p.Leu132fs)
|
|
|
|
NM_001242957.3(MAK):c.552G>C (p.Trp184Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.1073C>A (p.Thr358Asn)
|
|
|
|
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
|
NM_001243279.3(ACSF3):c.1577dup (p.His526fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)
|
rs140328142
|
|
|
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)
|
rs1378197369
|
|
|
NM_001243279.3(ACSF3):c.395C>A (p.Ala132Asp)
|
rs2151407600
|
|
|
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter)
|
rs752534981
|
|
|
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)
|
rs1064795534
|
|
|
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del)
|
rs1167417315
|
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
|
NM_001244008.2(KIF1A):c.4123-11G>C
|
rs369835159
|
|
|
NM_001244008.2(KIF1A):c.4778C>A (p.Pro1593Gln)
|
rs200902828
|
|
|
NM_001244008.2(KIF1A):c.5022-16CT[5]
|
|
|
|
NM_001244008.2(KIF1A):c.5214+16G>T
|
rs1280442556
|
|
|
NM_001244008.2(KIF1A):c.710C>T (p.Thr237Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
|
NM_001244189.1(KIAA0586):c.2602_2612del11
|
|
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
|
NM_001244710.2(GFPT1):c.2056-11del
|
rs201268947
|
|
|
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
|
|
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
|
NM_001244710.2(GFPT1):c.739+1G>A
|
|
|
|
NM_001250.6(CD40):c.188G>A (p.Gly63Asp)
|
rs1261429888
|
|
|
NM_001250.6(CD40):c.498-35TG[4]
|
rs1056841361
|
|
|
NM_001250.6(CD40):c.498-4A>T
|
rs536354301
|
|
|
NM_001250.6(CD40):c.51+7T>C
|
|
|
|
NM_001250.6(CD40):c.647-3dup
|
rs749590513
|
|
|
NM_001252024.2(TRPM1):c.4013T>G (p.Leu1338Arg)
|
|
|
|
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)
|
rs1558100393
|
|
|
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser)
|
rs753402898
|
|
|
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)
|
|
|
|
NM_001256071.3(RNF213):c.3608C>T (p.Ser1203Leu)
|
|
|
|
NM_001256071.3(RNF213):c.5601G>A (p.Pro1867=)
|
|
|
|
NM_001256071.3(RNF213):c.8149G>A (p.Asp2717Asn)
|
|
|
|
NM_001256071.3(RNF213):c.8212C>G (p.Leu2738Val)
|
|
|
|
NM_001256071.3(RNF213):c.962_963inv (p.Met321Thr)
|
|
|
|
NM_001256071.3(RNF213):c.985G>A (p.Gly329Ser)
|
|
|
|
NM_001256317.3(TMPRSS3):c.1250C>T (p.Ala417Val)
|
|
|
|
NM_001256317.3(TMPRSS3):c.1283A>G (p.Asn428Ser)
|
|
|
|
NM_001256317.3(TMPRSS3):c.1303C>G (p.Arg435Gly)
|
rs565348874
|
|
|
NM_001256317.3(TMPRSS3):c.871G>C (p.Val291Leu)
|
|
|
|
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His)
|
rs377547826
|
|
|
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer)
|
rs2147297973
|
|
|
NM_001257180.2(SLC20A2):c.811T>C (p.Phe271Leu)
|
|
|
|
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
|
|
|
|
NM_001257291.2(SLC9A7):c.1750G>A (p.Asp584Asn)
|
rs2146699107
|
|
|
NM_001257291.2(SLC9A7):c.706C>T (p.Leu236Phe)
|
|
|
|
NM_001257293.2(HNRNPH1):c.397+14_397+15delinsA
|
|
|
|
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
|
|
|
|
NM_001267550.2(TTN):c.100119C>T (p.Gly33373=)
|
|
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
|
NM_001267550.2(TTN):c.10047C>T (p.Thr3349=)
|
rs2089949892
|
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
|
NM_001267550.2(TTN):c.100766-1G>T
|
|
|
|
NM_001267550.2(TTN):c.101347A>C (p.Lys33783Gln)
|
rs1690916622
|
|
|
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)
|
rs376813674
|
|
|
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
|
|
|
|
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
|
|
|
|
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile)
|
rs1166346683
|
|
|
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)
|
rs759860918
|
|
|
NM_001267550.2(TTN):c.103731G>A (p.Gln34577=)
|
|
|
|
NM_001267550.2(TTN):c.103909C>A (p.Arg34637=)
|
rs200716930
|
|
|
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
|
|
|
|
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)
|
rs1559003939
|
|
|
NM_001267550.2(TTN):c.105418G>A (p.Val35140Ile)
|
|
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
|
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp)
|
rs1444816567
|
|
|
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
|
|
|
|
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)
|
rs794729250
|
|
|
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr)
|
rs371304729
|
|
|
NM_001267550.2(TTN):c.106398T>C (p.Tyr35466=)
|
rs1553482820
|
|
|
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)
|
rs879048717
|
|
|
NM_001267550.2(TTN):c.107377+13T>C
|
|
|
|
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del)
|
rs751689670
|
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
|
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)
|
rs281864929
|
|
|
NM_001267550.2(TTN):c.107895T>C (p.Asp35965=)
|
|
|
|
NM_001267550.2(TTN):c.10794dup (p.Lys3599Ter)
|
|
|
|
NM_001267550.2(TTN):c.11000A>T (p.Gln3667Leu)
|
|
|
|
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro)
|
rs794729589
|
|
|
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs)
|
rs778172350
|
|
|
NM_001267550.2(TTN):c.11255-17_11255-16del
|
rs72647895
|
|
|
NM_001267550.2(TTN):c.1364C>T (p.Thr455Met)
|
rs368121196
|
|
|
NM_001267550.2(TTN):c.13792G>C (p.Gly4598Arg)
|
|
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
|
NM_001267550.2(TTN):c.14314T>G (p.Cys4772Gly)
|
|
|
|
NM_001267550.2(TTN):c.14704A>C (p.Asn4902His)
|
|
|
|
NM_001267550.2(TTN):c.14775G>C (p.Gly4925=)
|
rs755413215
|
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
|
NM_001267550.2(TTN):c.14878T>C (p.Cys4960Arg)
|
rs879004875
|
|
|
NM_001267550.2(TTN):c.14985A>C (p.Pro4995=)
|
rs760725256
|
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
|
NM_001267550.2(TTN):c.1517T>G (p.Met506Arg)
|
rs1210731040
|
|
|
NM_001267550.2(TTN):c.15494A>G (p.Lys5165Arg)
|
|
|
|
NM_001267550.2(TTN):c.15679A>T (p.Ile5227Phe)
|
|
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
|
NM_001267550.2(TTN):c.15775+1G>A
|
rs1353528319
|
|
|
NM_001267550.2(TTN):c.16055-16C>G
|
|
|
|
NM_001267550.2(TTN):c.16591G>A (p.Val5531Met)
|
rs1301488285
|
|
|
NM_001267550.2(TTN):c.1681A>G (p.Ile561Val)
|
|
|
|
NM_001267550.2(TTN):c.16924G>A (p.Glu5642Lys)
|
rs1448901680
|
|
|
NM_001267550.2(TTN):c.17183-5G>A
|
rs1553924621
|
|
|
NM_001267550.2(TTN):c.1726A>G (p.Lys576Glu)
|
|
|
|
NM_001267550.2(TTN):c.17303del (p.Asp5768fs)
|
|
|
|
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile)
|
rs2154308873
|
|
|
NM_001267550.2(TTN):c.17584G>A (p.Glu5862Lys)
|
|
|
|
NM_001267550.2(TTN):c.17950A>G (p.Thr5984Ala)
|
|
|
|
NM_001267550.2(TTN):c.18029-20_18029-19delinsCC
|
rs2080233713
|
|
|
NM_001267550.2(TTN):c.18063A>G (p.Gln6021=)
|
|
|
|
NM_001267550.2(TTN):c.18208G>T (p.Glu6070Ter)
|
|
|
|
NM_001267550.2(TTN):c.18442G>A (p.Ala6148Thr)
|
|
|
|
NM_001267550.2(TTN):c.18868+6T>C
|
rs2154307118
|
|
|
NM_001267550.2(TTN):c.18869-3C>T
|
|
|
|
NM_001267550.2(TTN):c.19276G>T (p.Val6426Phe)
|
rs778339438
|
|
|
NM_001267550.2(TTN):c.19357G>C (p.Gly6453Arg)
|
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
|
NM_001267550.2(TTN):c.19801C>T (p.Pro6601Ser)
|
|
|
|
NM_001267550.2(TTN):c.20183A>G (p.Asn6728Ser)
|
|
|
|
NM_001267550.2(TTN):c.2018T>G (p.Leu673Arg)
|
|
|
|
NM_001267550.2(TTN):c.20415G>A (p.Lys6805=)
|
rs2154304580
|
|
|
NM_001267550.2(TTN):c.20745A>C (p.Ala6915=)
|
rs2154304288
|
|
|
NM_001267550.2(TTN):c.20837-2A>G
|
|
|
|
NM_001267550.2(TTN):c.20905T>A (p.Cys6969Ser)
|
rs368762020
|
|
|
NM_001267550.2(TTN):c.21020T>C (p.Ile7007Thr)
|
|
|
|
NM_001267550.2(TTN):c.21134C>T (p.Ser7045Phe)
|
|
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
|
NM_001267550.2(TTN):c.21995T>A (p.Leu7332Gln)
|
|
|
|
NM_001267550.2(TTN):c.22016C>T (p.Ser7339Leu)
|
|
|
|
NM_001267550.2(TTN):c.22355G>T (p.Trp7452Leu)
|
|
|
|
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)
|
rs779549899
|
|
|
NM_001267550.2(TTN):c.23269A>T (p.Thr7757Ser)
|
|
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23660-14A>G
|
rs2078064430
|
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
|
NM_001267550.2(TTN):c.23853C>T (p.Ala7951=)
|
rs201766927
|
|
|
NM_001267550.2(TTN):c.23931T>A (p.His7977Gln)
|
|
|
|
NM_001267550.2(TTN):c.24227-10C>A
|
|
|
|
NM_001267550.2(TTN):c.24365A>T (p.Glu8122Val)
|
|
|
|
NM_001267550.2(TTN):c.24515C>T (p.Thr8172Ile)
|
rs2077852623
|
|
|
NM_001267550.2(TTN):c.24898G>C (p.Glu8300Gln)
|
rs1300968279
|
|
|
NM_001267550.2(TTN):c.2494-16C>T
|
rs532479339
|
|
|
NM_001267550.2(TTN):c.24950A>T (p.Asn8317Ile)
|
rs1278554973
|
|
|
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val)
|
rs747055472
|
|
|
NM_001267550.2(TTN):c.25310C>T (p.Pro8437Leu)
|
rs1560631696
|
|
|
NM_001267550.2(TTN):c.25409G>A (p.Gly8470Glu)
|
|
|
|
NM_001267550.2(TTN):c.25583G>T (p.Cys8528Phe)
|
rs1364963458
|
|
|
NM_001267550.2(TTN):c.25609G>A (p.Asp8537Asn)
|
|
|
|
NM_001267550.2(TTN):c.25700C>T (p.Thr8567Ile)
|
rs867794054
|
|
|
NM_001267550.2(TTN):c.2607T>C (p.Thr869=)
|
rs143969192
|
|
|
NM_001267550.2(TTN):c.26248G>A (p.Gly8750Ser)
|
|
|
|
NM_001267550.2(TTN):c.26318A>C (p.Lys8773Thr)
|
rs2154297202
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[12]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.27169A>G (p.Ser9057Gly)
|
rs1472858886
|
|
|
NM_001267550.2(TTN):c.2735G>T (p.Arg912Leu)
|
|
|
|
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
|
rs376922544
|
|
|
NM_001267550.2(TTN):c.27608-21_27608-18del
|
rs760040610
|
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
|
NM_001267550.2(TTN):c.2788G>T (p.Ala930Ser)
|
rs758604858
|
|
|
NM_001267550.2(TTN):c.27977G>T (p.Gly9326Val)
|
|
|
|
NM_001267550.2(TTN):c.28012G>A (p.Gly9338Ser)
|
|
|
|
NM_001267550.2(TTN):c.29583AGA[2] (p.Glu9864del)
|
rs1366904544
|
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
|
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile)
|
rs1553875094
|
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
|
NM_001267550.2(TTN):c.30562A>G (p.Ile10188Val)
|
|
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.30683-19del
|
rs752002029
|
|
|
NM_001267550.2(TTN):c.30683-21_30683-19del
|
rs752002029
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-14del
|
rs776394673
|
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.30929A>T (p.Lys10310Met)
|
|
|
|
NM_001267550.2(TTN):c.31033T>C (p.Tyr10345His)
|
|
|
|
NM_001267550.2(TTN):c.31113T>C (p.Tyr10371=)
|
|
|
|
NM_001267550.2(TTN):c.31281G>A (p.Lys10427=)
|
rs868824599
|
|
|
NM_001267550.2(TTN):c.31348+1G>A
|
|
|
|
NM_001267550.2(TTN):c.31429_31430insTTA (p.Pro10477delinsLeuThr)
|
|
|
|
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
|
rs768632287
|
|
|
NM_001267550.2(TTN):c.32087C>T (p.Pro10696Leu)
|
|
|
|
NM_001267550.2(TTN):c.32219G>A (p.Ser10740Asn)
|
rs2071387213
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)
|
rs727503635
|
|
|
NM_001267550.2(TTN):c.33055G>T (p.Glu11019Ter)
|
rs1372770028
|
|
|
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu)
|
rs1328375389
|
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu)
|
rs757268986
|
|
|
NM_001267550.2(TTN):c.33806T>G (p.Val11269Gly)
|
|
|
|
NM_001267550.2(TTN):c.34007G>A (p.Arg11336His)
|
|
|
|
NM_001267550.2(TTN):c.34113A>G (p.Leu11371=)
|
|
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
|
NM_001267550.2(TTN):c.34291+8A>G
|
|
|
|
NM_001267550.2(TTN):c.34411_34414del (p.Lys11471fs)
|
|
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
|
NM_001267550.2(TTN):c.34613-10C>A
|
rs536191523
|
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
|
NM_001267550.2(TTN):c.34709-1G>A
|
rs727503634
|
|
|
NM_001267550.2(TTN):c.34938T>G (p.Thr11646=)
|
|
|
|
NM_001267550.2(TTN):c.35029G>T (p.Glu11677Ter)
|
|
|
|
NM_001267550.2(TTN):c.35228-6T>C
|
rs1399428209
|
|
|
NM_001267550.2(TTN):c.35309-10A>G
|
rs2066755161
|
|
|
NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr)
|
|
|
|
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)
|
rs199868380
|
|
|
NM_001267550.2(TTN):c.36119-1G>C
|
rs1239720687
|
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
|
|
NM_001267550.2(TTN):c.38207-10_38381-10del
|
|
|
|
NM_001267550.2(TTN):c.38978A>C (p.Glu12993Ala)
|
|
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
|
NM_001267550.2(TTN):c.39282_39284delinsCCA (p.Pro13095His)
|
|
|
|
NM_001267550.2(TTN):c.39295+1G>C
|
|
|
|
NM_001267550.2(TTN):c.39295+9G>C
|
|
|
|
NM_001267550.2(TTN):c.39314A>C (p.Glu13105Ala)
|
|
|
|
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del)
|
rs1292233616
|
|
|
NM_001267550.2(TTN):c.39543T>C (p.Ala13181=)
|
rs1228797651
|
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
|
NM_001267550.2(TTN):c.39709+14C>A
|
rs760314415
|
|
|
NM_001267550.2(TTN):c.39709+1G>A
|
|
|
|
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])
|
rs139512154
|
|
|
NM_001267550.2(TTN):c.39895+7A>G
|
rs1299824475
|
|
|
NM_001267550.2(TTN):c.41213G>A (p.Gly13738Asp)
|
|
|
|
NM_001267550.2(TTN):c.41232C>T (p.His13744=)
|
rs2060459708
|
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
|
NM_001267550.2(TTN):c.4153G>C (p.Ala1385Pro)
|
rs140760859
|
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
|
NM_001267550.2(TTN):c.42121G>A (p.Ala14041Thr)
|
rs2060215943
|
|
|
NM_001267550.2(TTN):c.4222C>T (p.Arg1408Cys)
|
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
|
NM_001267550.2(TTN):c.42488G>T (p.Cys14163Phe)
|
|
|
|
NM_001267550.2(TTN):c.42524T>C (p.Phe14175Ser)
|
rs575813993
|
|
|
NM_001267550.2(TTN):c.42908G>A (p.Cys14303Tyr)
|
|
|
|
NM_001267550.2(TTN):c.42947-12_42947-11del
|
rs1352151183
|
|
|
NM_001267550.2(TTN):c.43174G>C (p.Ala14392Pro)
|
|
|
|
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.43439A>G (p.Glu14480Gly)
|
rs1449008181
|
|
|
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
|
|
|
|
NM_001267550.2(TTN):c.43924C>A (p.Leu14642Ile)
|
rs2154220229
|
|
|
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)
|
rs1463883512
|
|
|
NM_001267550.2(TTN):c.44107A>G (p.Ile14703Val)
|
|
|
|
NM_001267550.2(TTN):c.44155-10G>A
|
rs1044877599
|
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
|
NM_001267550.2(TTN):c.44314G>T (p.Asp14772Tyr)
|
rs1426162588
|
|
|
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
|
|
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
|
NM_001267550.2(TTN):c.44548+13C>T
|
|
|
|
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln)
|
rs762830792
|
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
|
|
|
NM_001267550.2(TTN):c.44837_44845del (p.Arg14946_Leu14948del)
|
rs1436256356
|
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
|
NM_001267550.2(TTN):c.45082+8T>C
|
|
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
|
NM_001267550.2(TTN):c.45148C>T (p.Leu15050=)
|
|
|
|
NM_001267550.2(TTN):c.45461G>A (p.Arg15154Lys)
|
|
|
|
NM_001267550.2(TTN):c.45489T>G (p.Asp15163Glu)
|
|
|
|
NM_001267550.2(TTN):c.45741A>G (p.Ile15247Met)
|
|
|
|
NM_001267550.2(TTN):c.45895+17C>T
|
rs1559872244
|
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
|
NM_001267550.2(TTN):c.46788A>G (p.Lys15596=)
|
rs1576521599
|
|
|
NM_001267550.2(TTN):c.47127C>T (p.Asp15709=)
|
|
|
|
NM_001267550.2(TTN):c.47233G>A (p.Glu15745Lys)
|
|
|
|
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)
|
rs2154209202
|
|
|
NM_001267550.2(TTN):c.47898T>C (p.Ser15966=)
|
rs2154208346
|
|
|
NM_001267550.2(TTN):c.47946C>T (p.Ile15982=)
|
|
|
|
NM_001267550.2(TTN):c.48361C>G (p.Gln16121Glu)
|
|
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
|
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)
|
rs368527534
|
|
|
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn)
|
rs541307234
|
|
|
NM_001267550.2(TTN):c.49627A>G (p.Ile16543Val)
|
|
|
|
NM_001267550.2(TTN):c.4989A>T (p.Pro1663=)
|
rs756408474
|
|
|
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val)
|
rs763483590
|
|
|
NM_001267550.2(TTN):c.50202C>T (p.Ser16734=)
|
rs938879027
|
|
|
NM_001267550.2(TTN):c.50249-7T>A
|
|
|
|
NM_001267550.2(TTN):c.50344C>G (p.Pro16782Ala)
|
|
|
|
NM_001267550.2(TTN):c.50811C>T (p.Ser16937=)
|
rs780845171
|
|
|
NM_001267550.2(TTN):c.50857+10C>G
|
rs1553695761
|
|
|
NM_001267550.2(TTN):c.51281A>G (p.Tyr17094Cys)
|
|
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
|
NM_001267550.2(TTN):c.51589T>C (p.Cys17197Arg)
|
|
|
|
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)
|
rs2154198430
|
|
|
NM_001267550.2(TTN):c.52000C>T (p.Leu17334=)
|
|
|
|
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)
|
rs2055544893
|
|
|
NM_001267550.2(TTN):c.52349G>A (p.Arg17450Lys)
|
|
|
|
NM_001267550.2(TTN):c.5235T>G (p.Leu1745=)
|
|
|
|
NM_001267550.2(TTN):c.52406-12dup
|
rs1553688916
|
|
|
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
|
|
|
|
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)
|
rs2154197219
|
|
|
NM_001267550.2(TTN):c.53259del (p.Lys17753fs)
|
rs1389777522
|
|
|
NM_001267550.2(TTN):c.53469C>T (p.Asp17823=)
|
|
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
|
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
|
|
|
|
NM_001267550.2(TTN):c.54533G>T (p.Arg18178Leu)
|
rs879023208
|
|
|
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)
|
rs397517620
|
|
|
NM_001267550.2(TTN):c.54644G>A (p.Arg18215His)
|
|
|
|
NM_001267550.2(TTN):c.55200_55204delinsG (p.Val18401fs)
|
|
|
|
NM_001267550.2(TTN):c.55245T>C (p.Asp18415=)
|
rs2053598248
|
|
|
NM_001267550.2(TTN):c.55270-10T>C
|
|
|
|
NM_001267550.2(TTN):c.55339C>G (p.Pro18447Ala)
|
|
|
|
NM_001267550.2(TTN):c.55361C>T (p.Thr18454Ile)
|
|
|
|
NM_001267550.2(TTN):c.55517_55519del (p.Asp18506del)
|
rs2053439318
|
|
|
NM_001267550.2(TTN):c.55728G>A (p.Pro18576=)
|
rs727504598
|
|
|
NM_001267550.2(TTN):c.56051-7_56051-5del
|
rs774966673
|
|
|
NM_001267550.2(TTN):c.56270G>A (p.Ser18757Asn)
|
|
|
|
NM_001267550.2(TTN):c.56474G>C (p.Arg18825Thr)
|
|
|
|
NM_001267550.2(TTN):c.56594A>G (p.Tyr18865Cys)
|
|
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
|
NM_001267550.2(TTN):c.56962+21dup
|
rs3214578
|
|
|
NM_001267550.2(TTN):c.56963-19_56963-18delinsTC
|
rs2154190692
|
|
|
NM_001267550.2(TTN):c.57297A>G (p.Arg19099=)
|
rs2052118527
|
|
|
NM_001267550.2(TTN):c.57345T>C (p.Tyr19115=)
|
rs879000172
|
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
|
NM_001267550.2(TTN):c.57664G>A (p.Glu19222Lys)
|
rs2051376296
|
|
|
NM_001267550.2(TTN):c.57749A>G (p.Gln19250Arg)
|
|
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.57919CCT[1] (p.Pro19308del)
|
rs2050997801
|
|
|
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala)
|
rs754793079
|
|
|
NM_001267550.2(TTN):c.58160C>T (p.Thr19387Met)
|
|
|
|
NM_001267550.2(TTN):c.58459G>C (p.Val19487Leu)
|
rs2154186728
|
|
|
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys)
|
rs779755661
|
|
|
NM_001267550.2(TTN):c.58742A>C (p.Asp19581Ala)
|
|
|
|
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile)
|
rs562856820
|
|
|
NM_001267550.2(TTN):c.59206T>G (p.Ser19736Ala)
|
rs2050540072
|
|
|
NM_001267550.2(TTN):c.5979G>A (p.Glu1993=)
|
rs2154345900
|
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
|
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly)
|
rs1039014549
|
|
|
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)
|
rs761360903
|
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
|
NM_001267550.2(TTN):c.60839T>C (p.Val20280Ala)
|
|
|
|
NM_001267550.2(TTN):c.60896G>A (p.Gly20299Asp)
|
|
|
|
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs)
|
rs2154184570
|
|
|
NM_001267550.2(TTN):c.61234A>C (p.Lys20412Gln)
|
|
|
|
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
|
|
|
|
NM_001267550.2(TTN):c.6172A>G (p.Lys2058Glu)
|
rs786205405
|
|
|
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys)
|
rs794729470
|
|
|
NM_001267550.2(TTN):c.62403T>G (p.Val20801=)
|
|
|
|
NM_001267550.2(TTN):c.62925A>G (p.Val20975=)
|
rs2049614682
|
|
|
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn)
|
rs794729472
|
|
|
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup)
|
rs750904641
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
|
NM_001267550.2(TTN):c.63686C>T (p.Ala21229Val)
|
|
|
|
NM_001267550.2(TTN):c.63946G>A (p.Val21316Ile)
|
|
|
|
NM_001267550.2(TTN):c.64029C>G (p.Val21343=)
|
rs186381468
|
|
|
NM_001267550.2(TTN):c.64619C>T (p.Thr21540Ile)
|
rs1284135964
|
|
|
NM_001267550.2(TTN):c.64733C>G (p.Ser21578Cys)
|
|
|
|
NM_001267550.2(TTN):c.64774A>G (p.Ile21592Val)
|
rs727503581
|
|
|
NM_001267550.2(TTN):c.64889A>T (p.Tyr21630Phe)
|
|
|
|
NM_001267550.2(TTN):c.65336C>T (p.Ala21779Val)
|
|
|
|
NM_001267550.2(TTN):c.65528G>A (p.Ser21843Asn)
|
rs2154179160
|
|
|
NM_001267550.2(TTN):c.6564dup (p.Asp2189fs)
|
|
|
|
NM_001267550.2(TTN):c.65688T>A (p.Ser21896=)
|
|
|
|
NM_001267550.2(TTN):c.66161-12_66161-9del
|
rs758125069
|
|
|
NM_001267550.2(TTN):c.66429C>T (p.Asp22143=)
|
rs1367041984
|
|
|
NM_001267550.2(TTN):c.67057+6T>C
|
|
|
|
NM_001267550.2(TTN):c.67189G>A (p.Glu22397Lys)
|
|
|
|
NM_001267550.2(TTN):c.67228A>C (p.Lys22410Gln)
|
|
|
|
NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)
|
|
|
|
NM_001267550.2(TTN):c.68225-18T>C
|
rs1416277306
|
|
|
NM_001267550.2(TTN):c.68314G>C (p.Gly22772Arg)
|
rs1559480997
|
|
|
NM_001267550.2(TTN):c.68336A>G (p.His22779Arg)
|
|
|
|
NM_001267550.2(TTN):c.69716-15T>C
|
|
|
|
NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter)
|
rs1710057805
|
|
|
NM_001267550.2(TTN):c.69888C>G (p.Leu23296=)
|
rs2154172842
|
|
|
NM_001267550.2(TTN):c.70082G>T (p.Ser23361Ile)
|
rs1433418101
|
|
|
NM_001267550.2(TTN):c.70203T>C (p.Ile23401=)
|
rs2154172628
|
|
|
NM_001267550.2(TTN):c.70343C>A (p.Thr23448Lys)
|
|
|
|
NM_001267550.2(TTN):c.70623C>A (p.Ile23541=)
|
|
|
|
NM_001267550.2(TTN):c.70700A>C (p.Tyr23567Ser)
|
rs1004548694
|
|
|
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile)
|
rs397517687
|
|
|
NM_001267550.2(TTN):c.70852G>A (p.Glu23618Lys)
|
|
|
|
NM_001267550.2(TTN):c.7099G>A (p.Val2367Ile)
|
|
|
|
NM_001267550.2(TTN):c.71168T>A (p.Val23723Asp)
|
|
|
|
NM_001267550.2(TTN):c.7166T>A (p.Met2389Lys)
|
|
|
|
NM_001267550.2(TTN):c.71798C>T (p.Pro23933Leu)
|
|
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
|
NM_001267550.2(TTN):c.72114G>C (p.Thr24038=)
|
rs768064912
|
|
|
NM_001267550.2(TTN):c.72119T>C (p.Ile24040Thr)
|
|
|
|
NM_001267550.2(TTN):c.72614T>C (p.Val24205Ala)
|
rs1206638090
|
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
|
NM_001267550.2(TTN):c.73035T>G (p.Asn24345Lys)
|
|
|
|
NM_001267550.2(TTN):c.73073A>T (p.Tyr24358Phe)
|
|
|
|
NM_001267550.2(TTN):c.7330+12T>C
|
rs2154344841
|
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
|
NM_001267550.2(TTN):c.74038A>T (p.Ile24680Phe)
|
|
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
|
NM_001267550.2(TTN):c.74871G>A (p.Lys24957=)
|
|
|
|
NM_001267550.2(TTN):c.75239G>A (p.Arg25080Gln)
|
|
|
|
NM_001267550.2(TTN):c.75322C>A (p.Pro25108Thr)
|
rs1445994251
|
|
|
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
|
|
|
|
NM_001267550.2(TTN):c.76024G>C (p.Glu25342Gln)
|
|
|
|
NM_001267550.2(TTN):c.76050A>G (p.Arg25350=)
|
|
|
|
NM_001267550.2(TTN):c.76289T>C (p.Ile25430Thr)
|
rs2154168088
|
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.77411T>G (p.Phe25804Cys)
|
|
|
|
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del)
|
rs754571796
|
|
|
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)
|
rs572384303
|
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
|
|
|
NM_001267550.2(TTN):c.78460A>G (p.Thr26154Ala)
|
rs1286984854
|
|
|
NM_001267550.2(TTN):c.78742A>C (p.Lys26248Gln)
|
rs1281337813
|
|
|
NM_001267550.2(TTN):c.79028C>T (p.Thr26343Ile)
|
|
|
|
NM_001267550.2(TTN):c.7946A>G (p.Lys2649Arg)
|
rs745433704
|
|
|
NM_001267550.2(TTN):c.79485C>T (p.His26495=)
|
|
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
|
NM_001267550.2(TTN):c.79785C>T (p.Asp26595=)
|
rs1553587704
|
|
|
NM_001267550.2(TTN):c.79806T>C (p.Ile26602=)
|
rs770125328
|
|
|
NM_001267550.2(TTN):c.8108A>C (p.Lys2703Thr)
|
rs2091436696
|
|
|
NM_001267550.2(TTN):c.81276A>G (p.Gln27092=)
|
rs1705100328
|
|
|
NM_001267550.2(TTN):c.81526C>T (p.Arg27176Cys)
|
rs778385749
|
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
|
NM_001267550.2(TTN):c.8231G>C (p.Gly2744Ala)
|
rs556908341
|
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
|
NM_001267550.2(TTN):c.82980A>C (p.Leu27660=)
|
rs760972930
|
|
|
NM_001267550.2(TTN):c.83025A>G (p.Ile27675Met)
|
|
|
|
NM_001267550.2(TTN):c.83158G>T (p.Ala27720Ser)
|
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.83339_83342del (p.Lys27780fs)
|
|
|
|
NM_001267550.2(TTN):c.83767A>C (p.Ile27923Leu)
|
|
|
|
NM_001267550.2(TTN):c.84198G>A (p.Glu28066=)
|
rs2154160299
|
|
|
NM_001267550.2(TTN):c.85511_85512del (p.Glu28504fs)
|
|
|
|
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)
|
rs794729353
|
|
|
NM_001267550.2(TTN):c.85907C>G (p.Pro28636Arg)
|
|
|
|
NM_001267550.2(TTN):c.86264A>C (p.Asp28755Ala)
|
rs1702996133
|
|
|
NM_001267550.2(TTN):c.86448C>T (p.Asn28816=)
|
rs774349799
|
|
|
NM_001267550.2(TTN):c.8660C>A (p.Thr2887Asn)
|
rs752697997
|
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
|
NM_001267550.2(TTN):c.87997A>G (p.Ile29333Val)
|
|
|
|
NM_001267550.2(TTN):c.88028G>C (p.Arg29343Pro)
|
|
|
|
NM_001267550.2(TTN):c.88488A>G (p.Ala29496=)
|
|
|
|
NM_001267550.2(TTN):c.88661T>C (p.Leu29554Pro)
|
|
|
|
NM_001267550.2(TTN):c.88736T>C (p.Val29579Ala)
|
|
|
|
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys)
|
rs879222602
|
|
|
NM_001267550.2(TTN):c.8895A>G (p.Thr2965=)
|
|
|
|
NM_001267550.2(TTN):c.8902+14_8902+16delinsA
|
rs786200994
|
|
|
NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter)
|
|
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
|
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly)
|
rs1700105269
|
|
|
NM_001267550.2(TTN):c.8983del (p.Glu2995fs)
|
|
|
|
NM_001267550.2(TTN):c.90079G>T (p.Ala30027Ser)
|
|
|
|
NM_001267550.2(TTN):c.90203A>G (p.Glu30068Gly)
|
|
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
|
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe)
|
rs750520740
|
|
|
NM_001267550.2(TTN):c.90676_90678del (p.Ser30226del)
|
|
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
|
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr)
|
rs11887722
|
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
|
NM_001267550.2(TTN):c.91267G>A (p.Val30423Ile)
|
|
|
|
NM_001267550.2(TTN):c.91270+5G>A
|
rs2154150668
|
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
|
NM_001267550.2(TTN):c.91585G>A (p.Gly30529Ser)
|
|
|
|
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del)
|
rs754953607
|
|
|
NM_001267550.2(TTN):c.92427C>G (p.Ile30809Met)
|
|
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
|
NM_001267550.2(TTN):c.92966A>T (p.Asn30989Ile)
|
|
|
|
NM_001267550.2(TTN):c.93182G>C (p.Arg31061Pro)
|
rs727504923
|
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
|
NM_001267550.2(TTN):c.93431G>A (p.Arg31144Gln)
|
|
|
|
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=)
|
rs771653811
|
|
|
NM_001267550.2(TTN):c.94086T>C (p.Ser31362=)
|
rs919009792
|
|
|
NM_001267550.2(TTN):c.94127dup (p.Tyr31376Ter)
|
|
|
|
NM_001267550.2(TTN):c.94431G>A (p.Leu31477=)
|
|
|
|
NM_001267550.2(TTN):c.94499C>G (p.Pro31500Arg)
|
|
|
|
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)
|
rs727505200
|
|
|
NM_001267550.2(TTN):c.94633C>A (p.Arg31545Ser)
|
rs202187398
|
|
|
NM_001267550.2(TTN):c.9472-19del
|
rs201990196
|
|
|
NM_001267550.2(TTN):c.95108T>A (p.Val31703Asp)
|
|
|
|
NM_001267550.2(TTN):c.95147C>T (p.Thr31716Ile)
|
|
|
|
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)
|
rs1553520323
|
|
|
NM_001267550.2(TTN):c.95644C>T (p.Arg31882Trp)
|
|
|
|
NM_001267550.2(TTN):c.95654C>T (p.Ala31885Val)
|
|
|
|
NM_001267550.2(TTN):c.95961C>A (p.Ala31987=)
|
rs369405564
|
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.9670A>G (p.Arg3224Gly)
|
|
|
|
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met)
|
rs956461857
|
|
|
NM_001267550.2(TTN):c.97539T>A (p.Arg32513=)
|
|
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
|
NM_001267550.2(TTN):c.97794T>G (p.Ile32598Met)
|
|
|
|
NM_001267550.2(TTN):c.98468dup (p.Asp32823fs)
|
rs2154140040
|
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
|
NM_001267550.2(TTN):c.99567C>G (p.Leu33189=)
|
rs745708104
|
|
|
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
|
|
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
|
NM_001270.4(CHD1):c.1733A>C (p.His578Pro)
|
|
|
|
NM_001270.4(CHD1):c.179G>A (p.Ser60Asn)
|
|
|
|
NM_001270.4(CHD1):c.204T>C (p.Thr68=)
|
|
|
|
NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)
|
|
|
|
NM_001270.4(CHD1):c.3575G>A (p.Gly1192Asp)
|
|
|
|
NM_001270.4(CHD1):c.4574C>T (p.Pro1525Leu)
|
|
|
|
NM_001270.4(CHD1):c.662A>T (p.Asp221Val)
|
rs1751666878
|
|
|
NM_001271.4(CHD2):c.1154-1G>T
|
|
|
|
NM_001271.4(CHD2):c.2506-17G>A
|
rs2141839109
|
|
|
NM_001271.4(CHD2):c.2577+15_2577+20del
|
|
|
|
NM_001271.4(CHD2):c.2764del (p.Glu922fs)
|
rs2141844216
|
|
|
NM_001271.4(CHD2):c.856A>G (p.Ile286Val)
|
rs1457822140
|
|
|
NM_001271696.3(ABCB7):c.1771A>G (p.Ile591Val)
|
|
|
|
NM_001271696.3(ABCB7):c.944+10T>A
|
|
|
|
NM_001271803.2(REEP2):c.752G>C (p.Gly251Ala)
|
|
|
|
NM_001271938.2(MEGF8):c.1688C>T (p.Ser563Phe)
|
rs2147463786
|
|
|
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
|
|
|
|
NM_001271938.2(MEGF8):c.2451C>G (p.His817Gln)
|
rs1956275631
|
|
|
NM_001271938.2(MEGF8):c.5870G>T (p.Cys1957Phe)
|
rs772158196
|
|
|
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His)
|
rs201881006
|
|
|
NM_001271938.2(MEGF8):c.6738C>T (p.Gly2246=)
|
rs2039657364
|
|
|
NM_001271938.2(MEGF8):c.7005+1G>T
|
rs1224632697
|
|
|
NM_001271938.2(MEGF8):c.7014C>G (p.Asn2338Lys)
|
|
|
|
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
|
|
|
|
NM_001271938.2(MEGF8):c.755A>G (p.Asn252Ser)
|
rs2039111303
|
|
|
NM_001272071.2(AP1S2):c.258T>C (p.Tyr86=)
|
|
|
|
NM_001273.5(CHD4):c.2121T>C (p.Asp707=)
|
|
|
|
NM_001273.5(CHD4):c.3283C>T (p.Arg1095Cys)
|
rs1948400672
|
|
|
NM_001273.5(CHD4):c.3466-12G>A
|
|
|
|
NM_001273.5(CHD4):c.4060+16C>T
|
|
|
|
NM_001273.5(CHD4):c.4625C>T (p.Thr1542Ile)
|
|
|
|
NM_001276309.3(NOL3):c.-8-14C>T
|
|
|
|
NM_001276309.3(NOL3):c.-8-158C>T
|
|
|
|
NM_001276309.3(NOL3):c.199G>A (p.Gly67Ser)
|
|
|
|
NM_001276309.3(NOL3):c.475_528del (p.Ala159_Glu176del)
|
|
|
|
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)
|
rs727503513
|
|
|
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)
|
rs121964858
|
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
|
NM_001276345.2(TNNT2):c.412-94del
|
rs35559054
|
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
|
NM_001276345.2(TNNT2):c.441G>A (p.Gln147=)
|
rs1044313920
|
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
|
NM_001276345.2(TNNT2):c.638C>A (p.Thr213Asn)
|
rs397516476
|
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
|
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)
|
rs730881116
|
|
|
NM_001277058.2(ERCC6):c.2881delinsAT (p.Leu961fs)
|
|
|
|
NM_001277058.2(ERCC6):c.3166G>A (p.Val1056Ile)
|
|
|
|
NM_001278064.2(GRM1):c.26T>C (p.Phe9Ser)
|
|
|
|
NM_001278064.2(GRM1):c.3373G>T (p.Glu1125Ter)
|
rs149403267
|
|
|
NM_001278064.2(GRM1):c.445C>A (p.Pro149Thr)
|
|
|
|
NM_001278116.2(L1CAM):c.1267+1G>A
|
rs1557092247
|
|
|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
|
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys)
|
rs886039408
|
|
|
NM_001278116.2(L1CAM):c.1533C>A (p.Asn511Lys)
|
|
|
|
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
|
|
|
|
NM_001278116.2(L1CAM):c.1811_1816dup (p.Gln605_Leu606insProGln)
|
|
|
|
NM_001278116.2(L1CAM):c.1829-2A>G
|
|
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
|
NM_001278116.2(L1CAM):c.198-9C>A
|
rs782753470
|
|
|
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
|
|
|
|
NM_001278116.2(L1CAM):c.2138C>G (p.Ala713Gly)
|
|
|
|
NM_001278116.2(L1CAM):c.2269C>T (p.Gln757Ter)
|
|
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
|
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)
|
rs875989884
|
|
|
NM_001278116.2(L1CAM):c.2432-1G>A
|
|
|
|
NM_001278116.2(L1CAM):c.2712del (p.Ala906fs)
|
rs2064703218
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
|
NM_001278116.2(L1CAM):c.292A>G (p.Thr98Ala)
|
rs2148500068
|
|
|
NM_001278116.2(L1CAM):c.3019C>G (p.Arg1007Gly)
|
rs1557090232
|
|
|
NM_001278116.2(L1CAM):c.3043T>C (p.Ser1015Pro)
|
|
|
|
NM_001278116.2(L1CAM):c.3241C>T (p.Gln1081Ter)
|
rs2064692244
|
|
|
NM_001278116.2(L1CAM):c.3638del (p.Gly1213fs)
|
|
|
|
NM_001278116.2(L1CAM):c.523+12C>T
|
rs886039406
|
|
|
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)
|
rs137852521
|
|
|
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla)
|
rs2148498265
|
|
|
NM_001278116.2(L1CAM):c.807-6G>A
|
rs886039405
|
|
|
NM_001278116.2(L1CAM):c.991+6G>A
|
|
|
|
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)
|
rs756807665
|
|
|
NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs)
|
|
|
|
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)
|
rs542852839
|
|
|
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)
|
|
|
|
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)
|
|
|
|
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs)
|
rs2128375658
|
|
|
NM_001281503.2(SLITRK1):c.1381C>T (p.Leu461Phe)
|
rs1884779401
|
|
|
NM_001281503.2(SLITRK1):c.446C>T (p.Ala149Val)
|
|
|
|
NM_001282531.3(ADNP):c.1248G>C (p.Gln416His)
|
|
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
|
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
|
|
|
|
NM_001282531.3(ADNP):c.3280G>A (p.Gly1094Arg)
|
|
|
|
NM_001282534.2(KCNK9):c.509C>T (p.Thr170Met)
|
rs1814685669
|
|
|
NM_001282597.3(CTNNA2):c.1938_1939del (p.Asp646fs)
|
|
|
|
NM_001282684.2(KCTD17):c.794C>T (p.Pro265Leu)
|
|
|
|
NM_001282874.2(SMARCA1):c.2038A>G (p.Lys680Glu)
|
rs1303741633
|
|
|
NM_001283009.2(RTEL1):c.102+2T>C
|
rs1555899111
|
|
|
NM_001283009.2(RTEL1):c.1482-1G>A
|
rs863225129
|
|
|
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val)
|
rs398123016
|
|
|
NM_001283009.2(RTEL1):c.2413+1G>C
|
rs776744306
|
|
|
NM_001283009.2(RTEL1):c.2652+5G>A
|
rs1555812507
|
|
|
NM_001283009.2(RTEL1):c.2851+1G>A
|
rs1421904176
|
|
|
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr)
|
rs1334634497
|
|
|
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)
|
rs1470145133
|
|
|
NM_001283009.2(RTEL1):c.3618A>G (p.Ser1206=)
|
rs200452563
|
|
|
NM_001283009.2(RTEL1):c.396-78A>G
|
|
|
|
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)
|
|
|
|
NM_001286577.2(C2CD3):c.3345-1G>A
|
|
|
|
NM_001287.6(CLCN7):c.2215G>A (p.Glu739Lys)
|
|
|
|
NM_001287.6(CLCN7):c.676-12C>A
|
|
|
|
NM_001287.6(CLCN7):c.971C>T (p.Thr324Ile)
|
rs2038825233
|
|
|
NM_001287491.2(TET3):c.4874A>C (p.Glu1625Ala)
|
|
|
|
NM_001287491.2(TET3):c.5335G>C (p.Val1779Leu)
|
|
|
|
NM_001288705.3(CSF1R):c.1859-119G>A
|
rs1561912628
|
|
|
NM_001288705.3(CSF1R):c.2759A>C (p.Glu920Ala)
|
|
|
|
NM_001289.6(CLIC2):c.168-17A>T
|
|
|
|
NM_001289808.2(CRYAB):c.117G>T (p.Pro39=)
|
|
|
|
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)
|
|
|
|
NM_001291303.3(FAT4):c.12017C>T (p.Thr4006Met)
|
|
|
|
NM_001291303.3(FAT4):c.4726A>C (p.Ile1576Leu)
|
|
|
|
NM_001291303.3(FAT4):c.4944G>A (p.Val1648=)
|
|
|
|
NM_001291303.3(FAT4):c.5420G>A (p.Arg1807His)
|
|
|
|
NM_001291303.3(FAT4):c.738C>T (p.Asn246=)
|
|
|
|
NM_001291415.2(KDM6A):c.-10C>G
|
|
|
|
NM_001291415.2(KDM6A):c.2474T>C (p.Leu825Pro)
|
|
|
|
NM_001291415.2(KDM6A):c.343G>A (p.Ala115Thr)
|
rs2039532932
|
|
|
NM_001291415.2(KDM6A):c.3518A>G (p.His1173Arg)
|
|
|
|
NM_001291415.2(KDM6A):c.384+13T>A
|
|
|
|
NM_001291415.2(KDM6A):c.3954_3955dup (p.Ile1319fs)
|
|
|
|
NM_001291415.2(KDM6A):c.876-14C>T
|
rs1192148930
|
|
|
NM_001292034.3(TAB2):c.1105dup (p.Ile369fs)
|
|
|
|
NM_001292034.3(TAB2):c.1174A>G (p.Asn392Asp)
|
|
|
|
NM_001292034.3(TAB2):c.1547_1551del (p.Arg516fs)
|
|
|
|
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
|
|
|
|
NM_001297.5(CNGB1):c.1187G>A (p.Arg396Gln)
|
|
|
|
NM_001297.5(CNGB1):c.1801+5G>A
|
|
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
|
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
|
|
|
|
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)
|
rs104893617
|
|
|
NM_001303.4(COX10):c.413_414del (p.Lys138fs)
|
rs2142182514
|
|
|
NM_001303052.2(MYT1L):c.1121G>A (p.Arg374Lys)
|
|
|
|
NM_001303052.2(MYT1L):c.165T>A (p.Cys55Ter)
|
|
|
|
NM_001303052.2(MYT1L):c.2944G>T (p.Ala982Ser)
|
|
|
|
NM_001303052.2(MYT1L):c.713A>G (p.Asp238Gly)
|
|
|
|
NM_001303256.3(MORC2):c.1078C>G (p.Leu360Val)
|
|
|
|
NM_001303256.3(MORC2):c.1934C>T (p.Pro645Leu)
|
|
|
|
NM_001303256.3(MORC2):c.19A>G (p.Ser7Gly)
|
|
|
|
NM_001303256.3(MORC2):c.2023C>T (p.Arg675Ter)
|
|
|
|
NM_001303256.3(MORC2):c.2331A>G (p.Ser777=)
|
|
|
|
NM_001303256.3(MORC2):c.2381-5G>A
|
|
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
|
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu)
|
rs772619099
|
|
|
NM_001312909.2(FAM111A):c.1019dup (p.Asn340fs)
|
rs1861846592
|
|
|
NM_001312909.2(FAM111A):c.1477C>T (p.Arg493Ter)
|
rs761191576
|
|
|
NM_001318510.2(ACSL4):c.-12-53C>G
|
|
|
|
NM_001318510.2(ACSL4):c.1070C>A (p.Thr357Asn)
|
|
|
|
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His)
|
rs1569420470
|
|
|
NM_001318510.2(ACSL4):c.73G>A (p.Asp25Asn)
|
|
|
|
NM_001318852.2(MAPK8IP3):c.1816A>G (p.Thr606Ala)
|
rs1235244843
|
|
|
NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)
|
|
|
|
NM_001318852.2(MAPK8IP3):c.2820-7C>T
|
|
|
|
NM_001318852.2(MAPK8IP3):c.3077A>T (p.His1026Leu)
|
|
|
|
NM_001318852.2(MAPK8IP3):c.3623A>G (p.Tyr1208Cys)
|
rs2042395600
|
|
|
NM_001318852.2(MAPK8IP3):c.482A>T (p.Tyr161Phe)
|
rs2141731604
|
|
|
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter)
|
rs1085307703
|
|
|
NM_001320.7(CSNK2B):c.558-11C>T
|
|
|
|
NM_001321075.3(DLG4):c.1694-20G>A
|
|
|
|
NM_001321075.3(DLG4):c.480G>T (p.Glu160Asp)
|
|
|
|
NM_001321075.3(DLG4):c.719A>G (p.Tyr240Cys)
|
|
|
|
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
|
|
|
|
NM_001321075.3(DLG4):c.851C>T (p.Thr284Ile)
|
|
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
|
NM_001323289.2(CDKL5):c.2153-3C>T
|
|
|
|
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp)
|
rs2147144038
|
|
|
NM_001323289.2(CDKL5):c.597T>C (p.Cys199=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1362+2T>C
|
rs901508284
|
|
|
NM_001329943.3(KIAA0586):c.3168T>C (p.Pro1056=)
|
|
|
|
NM_001330.5(CTF1):c.*14G>A
|
rs370908045
|
|
|
NM_001330078.2(NRXN1):c.*18G>A
|
|
|
|
NM_001330078.2(NRXN1):c.2044A>G (p.Ser682Gly)
|
rs2105259007
|
|
|
NM_001330078.2(NRXN1):c.3218del (p.Asn1073fs)
|
|
|
|
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer)
|
rs1553400438
|
|
|
NM_001330078.2(NRXN1):c.822del (p.Ser276fs)
|
|
|
|
NM_001330111.2(NAA38):c.-167+106_-167+107insT
|
rs2151405562
|
|
|
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys)
|
rs1308021407
|
|
|
NM_001330260.2(SCN8A):c.1883G>A (p.Arg628His)
|
|
|
|
NM_001330260.2(SCN8A):c.2242T>C (p.Leu748=)
|
rs2138838573
|
|
|
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
|
|
|
|
NM_001330260.2(SCN8A):c.270G>A (p.Thr90=)
|
rs371712630
|
|
|
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)
|
rs863223345
|
|
|
NM_001330260.2(SCN8A):c.4524+20T>G
|
|
|
|
NM_001330260.2(SCN8A):c.4887T>G (p.Arg1629=)
|
rs774981346
|
|
|
NM_001330260.2(SCN8A):c.5306T>G (p.Phe1769Cys)
|
|
|
|
NM_001330288.2(SMARCC2):c.1497-2A>G
|
|
|
|
NM_001330288.2(SMARCC2):c.3129G>C (p.Gln1043His)
|
|
|
|
NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)
|
|
|
|
NM_001330288.2(SMARCC2):c.803G>A (p.Arg268His)
|
|
|
|
NM_001330311.2(DVL1):c.1112C>G (p.Thr371Arg)
|
|
|
|
NM_001330311.2(DVL1):c.227G>A (p.Arg76His)
|
|
|
|
NM_001330360.2(POLA1):c.1054T>G (p.Leu352Val)
|
|
|
|
NM_001330360.2(POLA1):c.2242T>G (p.Leu748Val)
|
|
|
|
NM_001330360.2(POLA1):c.3289A>G (p.Thr1097Ala)
|
rs2148498834
|
|
|
NM_001330360.2(POLA1):c.383A>G (p.Asn128Ser)
|
|
|
|
NM_001330360.2(POLA1):c.410C>T (p.Pro137Leu)
|
|
|
|
NM_001330368.2(C11orf65):c.641-36671del
|
rs2137023331
|
|
|
NM_001330574.2(ZNF711):c.119A>G (p.His40Arg)
|
|
|
|
NM_001330574.2(ZNF711):c.1465G>A (p.Asp489Asn)
|
rs1462160566
|
|
|
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)
|
rs1426575922
|
|
|
NM_001330700.2(TOP2B):c.1543C>T (p.Arg515Trp)
|
rs2125377756
|
|
|
NM_001330700.2(TOP2B):c.1895dup (p.Tyr633fs)
|
|
|
|
NM_001330700.2(TOP2B):c.3308A>G (p.Tyr1103Cys)
|
rs1702570767
|
|
|
NM_001330700.2(TOP2B):c.3907C>G (p.Pro1303Ala)
|
|
|
|
NM_001346754.2(PIGW):c.1050_1061del (p.Phe351_Leu354del)
|
rs2074169001
|
|
|
NM_001346754.2(PIGW):c.499A>G (p.Met167Val)
|
rs200024253
|
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
|
NM_001347721.2(DYRK1A):c.10+3G>C
|
rs2050442348
|
|
|
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly)
|
rs1601280230
|
|
|
NM_001347721.2(DYRK1A):c.1714A>C (p.Thr572Pro)
|
rs2053762752
|
|
|
NM_001347721.2(DYRK1A):c.1803CCA[7] (p.His609_His610dup)
|
rs760576043
|
|
|
NM_001347721.2(DYRK1A):c.2220dup (p.Met741fs)
|
rs2053783768
|
|
|
NM_001347721.2(DYRK1A):c.638-8_638-3del
|
rs2053033529
|
|
|
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs)
|
rs2148619406
|
|
|
NM_001348323.3(TRIP12):c.1019A>G (p.Lys340Arg)
|
|
|
|
NM_001348323.3(TRIP12):c.1958C>A (p.Pro653Gln)
|
|
|
|
NM_001348323.3(TRIP12):c.1986+7T>C
|
|
|
|
NM_001348323.3(TRIP12):c.2486G>A (p.Arg829Gln)
|
|
|
|
NM_001348323.3(TRIP12):c.4215+4A>G
|
|
|
|
NM_001348323.3(TRIP12):c.449A>G (p.His150Arg)
|
|
|
|
NM_001348323.3(TRIP12):c.5365-14A>C
|
|
|
|
NM_001348323.3(TRIP12):c.6008-6A>G
|
|
|
|
NM_001348323.3(TRIP12):c.6134G>C (p.Ser2045Thr)
|
|
|
|
NM_001348323.3(TRIP12):c.638_639del (p.Arg213fs)
|
|
|
|
NM_001348716.2(KDM6B):c.1820C>T (p.Pro607Leu)
|
|
|
|
NM_001348716.2(KDM6B):c.2516C>T (p.Pro839Leu)
|
|
|
|
NM_001348716.2(KDM6B):c.3441-9del
|
|
|
|
NM_001348716.2(KDM6B):c.457-13C>T
|
|
|
|
NM_001348768.2(HECW2):c.1097T>A (p.Val366Glu)
|
|
|
|
NM_001348768.2(HECW2):c.1568C>T (p.Ala523Val)
|
|
|
|
NM_001348768.2(HECW2):c.1618T>C (p.Ser540Pro)
|
|
|
|
NM_001348768.2(HECW2):c.2009A>C (p.Glu670Ala)
|
|
|
|
NM_001348768.2(HECW2):c.244A>G (p.Ile82Val)
|
|
|
|
NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)
|
|
|
|
NM_001348768.2(HECW2):c.3752T>C (p.Val1251Ala)
|
|
|
|
NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn)
|
rs779190582
|
|
|
NM_001349253.2(SCN11A):c.1442G>C (p.Gly481Ala)
|
|
|
|
NM_001349253.2(SCN11A):c.2203C>T (p.Leu735Phe)
|
|
|
|
NM_001349253.2(SCN11A):c.4278C>T (p.Thr1426=)
|
|
|
|
NM_001349253.2(SCN11A):c.5201A>G (p.Glu1734Gly)
|
|
|
|
NM_001349338.3(FOXP1):c.1146+1G>C
|
rs1559650552
|
|
|
NM_001349338.3(FOXP1):c.1277C>T (p.Thr426Ile)
|
|
|
|
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)
|
rs1553663084
|
|
|
NM_001349338.3(FOXP1):c.527C>A (p.Thr176Asn)
|
|
|
|
NM_001349338.3(FOXP1):c.659dup (p.Gln221fs)
|
rs2049106504
|
|
|
NM_001349798.2(FBXW7):c.1002G>T (p.Leu334Phe)
|
|
|
|
NM_001349798.2(FBXW7):c.31A>G (p.Lys11Glu)
|
|
|
|
NM_001351132.2(PEX5):c.127_128delinsTT (p.Gly43Leu)
|
|
|
|
NM_001351132.2(PEX5):c.1645C>T (p.Leu549Phe)
|
|
|
|
NM_001351132.2(PEX5):c.64G>A (p.Gly22Arg)
|
rs2135877599
|
|
|
NM_001351132.2(PEX5):c.846+1G>A
|
|
|
|
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)
|
rs763305896
|
|
|
NM_001351169.2(NT5C2):c.389+349G>A
|
|
|
|
NM_001352027.3(PHF21A):c.205C>T (p.Pro69Ser)
|
rs2136287756
|
|
|
NM_001352027.3(PHF21A):c.643A>G (p.Lys215Glu)
|
rs2136046833
|
|
|
NM_001352514.2(HLCS):c.*7_*9del
|
rs201681436
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
|
NM_001352514.2(HLCS):c.2151C>G (p.Asn717Lys)
|
|
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
|
NM_001353108.3(CEP63):c.490C>T (p.Gln164Ter)
|
|
|
|
NM_001353108.3(CEP63):c.530T>C (p.Leu177Pro)
|
|
|
|
NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu)
|
|
|
|
NM_001353345.2(SETD1B):c.1460C>T (p.Ser487Leu)
|
|
|
|
NM_001353345.2(SETD1B):c.1981_1986del (p.Val661_Val662del)
|
rs2137560114
|
|
|
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
|
|
|
|
NM_001353345.2(SETD1B):c.2755_2772dup (p.Pro924_Lys925insGluAspArgProLysPro)
|
|
|
|
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys)
|
rs2137589027
|
|
|
NM_001353345.2(SETD1B):c.5721C>T (p.Ser1907=)
|
|
|
|
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)
|
rs1057521096
|
|
|
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp)
|
rs121918697
|
|
|
NM_001354712.2(THRB):c.1013G>A (p.Arg338Gln)
|
|
|
|
NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser)
|
rs121918686
|
|
|
NM_001354712.2(THRB):c.1305T>G (p.His435Gln)
|
rs1553609185
|
|
|
NM_001354712.2(THRB):c.1324A>G (p.Met442Val)
|
rs121918691
|
|
|
NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)
|
|
|
|
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)
|
rs28933408
|
|
|
NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser)
|
rs28933408
|
|
|
NM_001354712.2(THRB):c.1357_1358delinsGA (p.Pro453Asp)
|
rs2148780504
|
|
|
NM_001354712.2(THRB):c.1358C>T (p.Pro453Leu)
|
|
|
|
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)
|
rs1553609090
|
|
|
NM_001354712.2(THRB):c.23-19G>A
|
|
|
|
NM_001354712.2(THRB):c.625G>C (p.Gly209Arg)
|
|
|
|
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln)
|
rs121918706
|
|
|
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)
|
rs750905761
|
|
|
NM_001354712.2(THRB):c.929T>C (p.Met310Thr)
|
rs121918699
|
|
|
NM_001354712.2(THRB):c.947G>A (p.Arg316His)
|
rs121918695
|
|
|
NM_001354712.2(THRB):c.958C>A (p.Arg320Ser)
|
rs121918696
|
|
|
NM_001354712.2(THRB):c.980C>T (p.Thr327Ile)
|
|
|
|
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)
|
rs28999969
|
|
|
NM_001356.5(DDX3X):c.1227C>T (p.Gly409=)
|
|
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
|
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)
|
rs1064795323
|
|
|
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
|
|
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
|
NM_001358530.2(MOCS1):c.1102+6T>C
|
|
|
|
NM_001358530.2(MOCS1):c.124-118G>T
|
|
|
|
NM_001358530.2(MOCS1):c.124-123A>G
|
|
|
|
NM_001358530.2(MOCS1):c.124-124_124-123del
|
|
|
|
NM_001358530.2(MOCS1):c.1858_1859dup (p.Lys621fs)
|
|
|
|
NM_001360.3(DHCR7):c.1003C>T (p.Pro335Ser)
|
rs1949273213
|
|
|
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)
|
rs121909768
|
|
|
NM_001360.3(DHCR7):c.1088G>T (p.Arg363Leu)
|
rs200539324
|
|
|
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)
|
rs544442568
|
|
|
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)
|
rs773134475
|
|
|
NM_001360.3(DHCR7):c.1193del (p.Gly398fs)
|
rs1949268628
|
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
|
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)
|
rs781687341
|
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
|
NM_001360.3(DHCR7):c.355del (p.His119fs)
|
rs747827699
|
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
|
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)
|
rs143312232
|
|
|
NM_001360.3(DHCR7):c.464A>G (p.His155Arg)
|
|
|
|
NM_001360.3(DHCR7):c.466C>T (p.Leu156=)
|
rs1565588103
|
|
|
NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter)
|
|
|
|
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)
|
rs1427321619
|
|
|
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe)
|
rs1223603615
|
|
|
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr)
|
rs767031102
|
|
|
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg)
|
rs886044494
|
|
|
NM_001360.3(DHCR7):c.818T>G (p.Val273Gly)
|
|
|
|
NM_001360.3(DHCR7):c.842T>C (p.Val281Ala)
|
|
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
|
NM_001360.3(DHCR7):c.962A>T (p.Gln321Leu)
|
|
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
|
NM_001360.3(DHCR7):c.98+2_98+6del
|
rs1301873688
|
|
|
NM_001360016.2(G6PD):c.112G>A (p.Gly38Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
|
|
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
|
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
|
|
|
|
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
|
|
|
|
NM_001360016.2(G6PD):c.[376A>G;968T>C]
|
|
|
|
NM_001363.5(DKC1):c.264-9C>T
|
rs1300109572
|
|
|
NM_001363118.2(SLC52A2):c.131-1G>C
|
rs782305211
|
|
|
NM_001363711.2(DUOX2):c.1587G>T (p.Lys529Asn)
|
|
|
|
NM_001363711.2(DUOX2):c.1718A>G (p.Gln573Arg)
|
|
|
|
NM_001363711.2(DUOX2):c.199G>A (p.Asp67Asn)
|
rs1255757517
|
|
|
NM_001363711.2(DUOX2):c.214G>T (p.Ala72Ser)
|
|
|
|
NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)
|
|
|
|
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln)
|
rs181461079
|
|
|
NM_001363711.2(DUOX2):c.2803C>T (p.Leu935Phe)
|
|
|
|
NM_001363711.2(DUOX2):c.3395T>A (p.Met1132Lys)
|
|
|
|
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs)
|
rs1566978577
|
|
|
NM_001363711.2(DUOX2):c.355G>C (p.Val119Leu)
|
rs138970496
|
|
|
NM_001363711.2(DUOX2):c.3721A>T (p.Ile1241Phe)
|
|
|
|
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)
|
rs143471358
|
|
|
NM_001363711.2(DUOX2):c.3940G>A (p.Glu1314Lys)
|
|
|
|
NM_001363711.2(DUOX2):c.838G>A (p.Glu280Lys)
|
|
|
|
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del
|
|
|
|
NM_001365088.1(SLC12A6):c.1118+5G>A
|
|
|
|
NM_001365088.1(SLC12A6):c.1820del (p.Leu607fs)
|
|
|
|
NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)
|
|
|
|
NM_001365088.1(SLC12A6):c.1A>G (p.Met1Val)
|
rs1295560007
|
|
|
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)
|
rs121908428
|
|
|
NM_001365088.1(SLC12A6):c.2110A>G (p.Ile704Val)
|
rs748542923
|
|
|
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215
|
|
|
NM_001365088.1(SLC12A6):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)
|
rs775111365
|
|
|
NM_001365276.2(TNXB):c.11925+2T>A
|
|
|
|
NM_001365276.2(TNXB):c.12155G>A (p.Arg4052His)
|
|
|
|
NM_001365276.2(TNXB):c.3908del (p.Gln1303fs)
|
|
|
|
NM_001365276.2(TNXB):c.4431A>G (p.Leu1477=)
|
|
|
|
NM_001365276.2(TNXB):c.7783G>C (p.Glu2595Gln)
|
rs374803743
|
|
|
NM_001365276.2(TNXB):c.9057C>T (p.His3019=)
|
|
|
|
NM_001365276.2(TNXB):c.9473_9474delinsTG (p.Thr3158Met)
|
|
|
|
NM_001365308.1(BMPER):c.322T>C (p.Cys108Arg)
|
|
|
|
NM_001365536.1(SCN9A):c.1415G>T (p.Ser472Ile)
|
|
|
|
NM_001365536.1(SCN9A):c.3925-10T>C
|
|
|
|
NM_001365536.1(SCN9A):c.4184G>A (p.Gly1395Asp)
|
rs764682998
|
|
|
NM_001365536.1(SCN9A):c.4207G>T (p.Ala1403Ser)
|
|
|
|
NM_001365536.1(SCN9A):c.4932_4935del (p.Phe1645fs)
|
|
|
|
NM_001365536.1(SCN9A):c.5028T>C (p.Asn1676=)
|
rs1553473212
|
|
|
NM_001365536.1(SCN9A):c.5444T>C (p.Ile1815Thr)
|
|
|
|
NM_001365902.3(NFIX):c.772del (p.Gln258fs)
|
rs2016920143
|
|
|
NM_001365902.3(NFIX):c.818+1G>A
|
rs2016923973
|
|
|
NM_001365902.3(NFIX):c.87C>G (p.Thr29=)
|
|
|
|
NM_001365951.3(KIF1B):c.1108C>T (p.Arg370Cys)
|
|
|
|
NM_001365951.3(KIF1B):c.2980G>T (p.Ala994Ser)
|
|
|
|
NM_001365999.1(SZT2):c.6039T>C (p.Tyr2013=)
|
rs1192938717
|
|
|
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=)
|
rs375793150
|
|
|
NM_001365999.1(SZT2):c.7087G>A (p.Gly2363Arg)
|
rs1557587748
|
|
|
NM_001365999.1(SZT2):c.7512-17dup
|
|
|
|
NM_001365999.1(SZT2):c.8074A>C (p.Ile2692Leu)
|
|
|
|
NM_001365999.1(SZT2):c.9636C>G (p.Phe3212Leu)
|
rs1252399076
|
|
|
NM_001365999.1(SZT2):c.997C>G (p.Pro333Ala)
|
|
|
|
NM_001366110.1(PAX4):c.*196C>T
|
|
|
|
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)
|
rs112061448
|
|
|
NM_001366110.1(PAX4):c.772-10T>C
|
|
|
|
NM_001366145.2(TRPM3):c.223G>A (p.Val75Ile)
|
|
|
|
NM_001366145.2(TRPM3):c.3991G>T (p.Gly1331Cys)
|
|
|
|
NM_001366521.1(ATP2B1):c.1237A>G (p.Ile413Val)
|
|
|
|
NM_001366521.1(ATP2B1):c.3055G>C (p.Val1019Leu)
|
|
|
|
NM_001366521.1(ATP2B1):c.90G>T (p.Thr30=)
|
|
|
|
NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)
|
|
|
|
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn)
|
rs1565721288
|
|
|
NM_001366722.1(GRIP1):c.1A>G (p.Met1Val)
|
|
|
|
NM_001366722.1(GRIP1):c.2464+3A>G
|
|
|
|
NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala)
|
rs568959118
|
|
|
NM_001367498.1(CNTNAP5):c.733+2T>C
|
rs1692484114
|
|
|
NM_001367561.1(DOCK7):c.3471+12G>A
|
|
|
|
NM_001367561.1(DOCK7):c.3576A>G (p.Thr1192=)
|
|
|
|
NM_001367561.1(DOCK7):c.4282+16A>G
|
|
|
|
NM_001367561.1(DOCK7):c.4283-5G>T
|
|
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
|
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs)
|
rs764470052
|
|
|
NM_001367624.2(ZNF469):c.10794G>A (p.Gly3598=)
|
|
|
|
NM_001367624.2(ZNF469):c.11536dup (p.Arg3846fs)
|
rs1192814702
|
|
|
NM_001367624.2(ZNF469):c.11671C>G (p.Leu3891Val)
|
rs1419259989
|
|
|
NM_001367624.2(ZNF469):c.1534G>A (p.Glu512Lys)
|
rs953454298
|
|
|
NM_001367624.2(ZNF469):c.2059G>A (p.Glu687Lys)
|
|
|
|
NM_001367624.2(ZNF469):c.2130_2132delinsCCG (p.Pro711Arg)
|
|
|
|
NM_001367624.2(ZNF469):c.2477C>G (p.Pro826Arg)
|
rs772056680
|
|
|
NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1])
|
rs281865147
|
|
|
NM_001367624.2(ZNF469):c.3003C>T (p.Ala1001=)
|
rs993032767
|
|
|
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
|
|
|
|
NM_001367624.2(ZNF469):c.4516G>A (p.Glu1506Lys)
|
rs2142306246
|
|
|
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
|
|
|
|
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
|
|
|
|
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
|
|
|
|
NM_001367624.2(ZNF469):c.8035C>T (p.Leu2679Phe)
|
rs1304525923
|
|
|
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)
|
rs1172315984
|
|
|
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)
|
rs2142312393
|
|
|
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)
|
rs764139968
|
|
|
NM_001367721.1(CASK):c.1806+17dup
|
|
|
|
NM_001367721.1(CASK):c.2155+4_2155+6delinsA
|
rs752382791
|
|
|
NM_001367873.1(SOX6):c.1217A>G (p.Glu406Gly)
|
|
|
|
NM_001367873.1(SOX6):c.1408G>A (p.Gly470Arg)
|
|
|
|
NM_001367873.1(SOX6):c.1633C>T (p.Arg545Cys)
|
|
|
|
NM_001367873.1(SOX6):c.95G>T (p.Gly32Val)
|
|
|
|
NM_001368397.1(FRMPD4):c.182T>A (p.Phe61Tyr)
|
rs2059162987
|
|
|
NM_001368397.1(FRMPD4):c.3046A>T (p.Met1016Leu)
|
rs2042125862
|
|
|
NM_001368397.1(FRMPD4):c.3634A>G (p.Ser1212Gly)
|
|
|
|
NM_001368397.1(FRMPD4):c.3899C>G (p.Thr1300Ser)
|
|
|
|
NM_001368397.1(FRMPD4):c.867C>T (p.Phe289=)
|
|
|
|
NM_001368397.1(FRMPD4):c.933+3A>T
|
|
|
|
NM_001368809.2(AMPD2):c.1502C>T (p.Ala501Val)
|
|
|
|
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
|
|
|
|
NM_001368894.2(PAX6):c.724+14T>A
|
|
|
|
NM_001369.3(DNAH5):c.11308A>G (p.Ser3770Gly)
|
rs1747677646
|
|
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
|
|
|
NM_001369268.1(ACAN):c.194C>A (p.Ser65Tyr)
|
|
|
|
NM_001369268.1(ACAN):c.2842G>C (p.Ala948Pro)
|
|
|
|
NM_001369268.1(ACAN):c.324C>G (p.Asn108Lys)
|
|
|
|
NM_001369268.1(ACAN):c.413G>C (p.Gly138Ala)
|
|
|
|
NM_001369268.1(ACAN):c.4281T>G (p.Asp1427Glu)
|
|
|
|
NM_001369268.1(ACAN):c.5317C>A (p.Leu1773Ile)
|
|
|
|
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
|
|
|
|
NM_001369369.1(FOXN1):c.505G>A (p.Glu169Lys)
|
|
|
|
NM_001370100.5(ZMYND11):c.1038_1039delinsGG (p.Cys347Gly)
|
|
|
|
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)
|
rs386134245
|
|
|
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)
|
rs1114167482
|
|
|
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter)
|
rs2136117686
|
|
|
NM_001370259.2(MEN1):c.1063del (p.Arg355fs)
|
rs386134246
|
|
|
NM_001370259.2(MEN1):c.1102del (p.Ala368fs)
|
rs2136110242
|
|
|
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)
|
rs386134247
|
|
|
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del)
|
rs386134248
|
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
|
NM_001370259.2(MEN1):c.1295T>C (p.Leu432Pro)
|
rs2136100876
|
|
|
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)
|
rs1941604532
|
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
|
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)
|
rs2136092832
|
|
|
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)
|
rs1592633463
|
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
|
NM_001370259.2(MEN1):c.153C>A (p.Asn51Lys)
|
|
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
|
NM_001370259.2(MEN1):c.1548G>A (p.Arg516=)
|
rs1297016658
|
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
|
NM_001370259.2(MEN1):c.1564dup (p.Val522fs)
|
rs1941522995
|
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
|
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)
|
rs386134250
|
|
|
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)
|
rs386134251
|
|
|
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)
|
|
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
|
NM_001370259.2(MEN1):c.249G>A (p.Leu83=)
|
rs386134252
|
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
|
NM_001370259.2(MEN1):c.307del (p.Leu103fs)
|
rs794728639
|
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
|
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)
|
rs386134254
|
|
|
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)
|
rs386134254
|
|
|
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)
|
rs386134255
|
|
|
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg)
|
rs1085307471
|
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
|
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)
|
rs1941861451
|
|
|
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)
|
rs104894257
|
|
|
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu)
|
rs1114167518
|
|
|
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp)
|
rs386134257
|
|
|
NM_001370259.2(MEN1):c.649_654+2del
|
rs386134258
|
|
|
NM_001370259.2(MEN1):c.654+18C>T
|
rs180737290
|
|
|
NM_001370259.2(MEN1):c.654+3A>T
|
rs1064793168
|
|
|
NM_001370259.2(MEN1):c.655-6C>T
|
rs77461664
|
|
|
NM_001370259.2(MEN1):c.686G>A (p.Arg229His)
|
rs878855197
|
|
|
NM_001370259.2(MEN1):c.689G>T (p.Cys230Phe)
|
|
|
|
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)
|
rs386134259
|
|
|
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)
|
rs886039416
|
|
|
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro)
|
rs2136139920
|
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
|
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
|
|
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
|
NM_001370259.2(MEN1):c.912+1G>A
|
rs398124437
|
|
|
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)
|
rs386134260
|
|
|
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)
|
rs386134261
|
|
|
NM_001370259.2(MEN1):c.979T>G (p.Tyr327Asp)
|
rs1259383083
|
|
|
NM_001370298.3(FGD4):c.166+1G>A
|
|
|
|
NM_001370298.3(FGD4):c.1839G>A (p.Met613Ile)
|
|
|
|
NM_001370466.1(NOD2):c.1690G>A (p.Val564Ile)
|
|
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
|
NM_001370658.1(BTD):c.270del (p.Pro91fs)
|
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
|
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
|
|
|
|
NM_001371333.1(DIABLO):c.-1A>G
|
|
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
|
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
|
rs1043984708
|
|
|
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val)
|
rs764549054
|
|
|
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)
|
|
|
|
NM_001371596.2(MFSD8):c.215del (p.Asp72fs)
|
|
|
|
NM_001371623.1(TCOF1):c.1729C>G (p.Gln577Glu)
|
|
|
|
NM_001371623.1(TCOF1):c.3306_3314del (p.Ser1102_Gly1105delinsArg)
|
|
|
|
NM_001371623.1(TCOF1):c.3518-2A>G
|
|
|
|
NM_001371623.1(TCOF1):c.3629del (p.Pro1210fs)
|
|
|
|
NM_001371727.1(GABRB2):c.1151C>T (p.Pro384Leu)
|
|
|
|
NM_001371727.1(GABRB2):c.1265T>C (p.Met422Thr)
|
|
|
|
NM_001371904.1(APOA5):c.*12C>T
|
|
|
|
NM_001371904.1(APOA5):c.*17G>A
|
|
|
|
NM_001371904.1(APOA5):c.-11C>G
|
|
|
|
NM_001371904.1(APOA5):c.119G>T (p.Arg40Met)
|
|
|
|
NM_001371904.1(APOA5):c.162-8T>G
|
|
|
|
NM_001371904.1(APOA5):c.274A>G (p.Met92Val)
|
|
|
|
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp)
|
rs3135506
|
|
|
NM_001371904.1(APOA5):c.625C>T (p.Leu209=)
|
|
|
|
NM_001371904.1(APOA5):c.696C>G (p.Ser232=)
|
rs146781249
|
|
|
NM_001371904.1(APOA5):c.949C>G (p.Pro317Ala)
|
|
|
|
NM_001371928.1(AHDC1):c.1312C>A (p.Pro438Thr)
|
|
|
|
NM_001371928.1(AHDC1):c.2479G>A (p.Glu827Lys)
|
|
|
|
NM_001371928.1(AHDC1):c.2713G>A (p.Ala905Thr)
|
|
|
|
NM_001371928.1(AHDC1):c.3470C>T (p.Thr1157Met)
|
|
|
|
NM_001371928.1(AHDC1):c.4142C>T (p.Pro1381Leu)
|
|
|
|
NM_001371986.1(UNC80):c.151C>T (p.Arg51Ter)
|
rs869025320
|
|
|
NM_001371986.1(UNC80):c.5539G>T (p.Val1847Phe)
|
|
|
|
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs)
|
rs2090097617
|
|
|
NM_001371986.1(UNC80):c.7392T>A (p.Ile2464=)
|
|
|
|
NM_001372.4(DNAH9):c.4918C>T (p.Arg1640Ter)
|
|
|
|
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
|
|
|
|
NM_001372044.2(SHANK3):c.616G>T (p.Val206Leu)
|
|
|
|
NM_001372066.1(TFAP2A):c.248G>A (p.Ser83Asn)
|
|
|
|
NM_001372066.1(TFAP2A):c.752T>G (p.Leu251Arg)
|
|
|
|
NM_001374353.1(GLI2):c.1010C>T (p.Thr337Met)
|
|
|
|
NM_001374353.1(GLI2):c.1298C>T (p.Thr433Ile)
|
|
|
|
NM_001374353.1(GLI2):c.1394A>C (p.Lys465Thr)
|
|
|
|
NM_001374353.1(GLI2):c.1468-12G>A
|
|
|
|
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
|
|
|
|
NM_001374353.1(GLI2):c.1633-15T>C
|
|
|
|
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)
|
rs763503195
|
|
|
NM_001374353.1(GLI2):c.1676C>T (p.Thr559Ile)
|
|
|
|
NM_001374353.1(GLI2):c.178G>C (p.Ala60Pro)
|
|
|
|
NM_001374353.1(GLI2):c.1861G>A (p.Glu621Lys)
|
|
|
|
NM_001374353.1(GLI2):c.2118G>A (p.Met706Ile)
|
|
|
|
NM_001374353.1(GLI2):c.2939C>T (p.Pro980Leu)
|
|
|
|
NM_001374353.1(GLI2):c.3190G>T (p.Gly1064Cys)
|
|
|
|
NM_001374353.1(GLI2):c.3367A>G (p.Asn1123Asp)
|
|
|
|
NM_001374353.1(GLI2):c.4027G>C (p.Gly1343Arg)
|
|
|
|
NM_001374385.1(ATP8B1):c.1046T>C (p.Ile349Thr)
|
|
|
|
NM_001374385.1(ATP8B1):c.1151G>A (p.Arg384His)
|
|
|
|
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)
|
rs1912544280
|
|
|
NM_001374385.1(ATP8B1):c.1240_1244delinsTG (p.Gly414_Gln415delinsTrp)
|
rs2122850900
|
|
|
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del)
|
rs756395915
|
|
|
NM_001374385.1(ATP8B1):c.1928T>C (p.Leu643Pro)
|
|
|
|
NM_001374385.1(ATP8B1):c.2006_2007delinsCA (p.Trp669Ser)
|
rs2122711462
|
|
|
NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter)
|
rs2122711426
|
|
|
NM_001374385.1(ATP8B1):c.2996T>G (p.Leu999Arg)
|
rs2122577738
|
|
|
NM_001374385.1(ATP8B1):c.3261+1G>C
|
rs1568178734
|
|
|
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
|
|
|
|
NM_001374385.1(ATP8B1):c.940+3A>G
|
|
|
|
NM_001374623.1(PNPLA1):c.205+5G>A
|
rs1561853887
|
|
|
NM_001374623.1(PNPLA1):c.38del (p.Pro13fs)
|
rs938583000
|
|
|
NM_001374623.1(PNPLA1):c.434T>C (p.Ile145Thr)
|
|
|
|
NM_001374623.1(PNPLA1):c.527C>T (p.Thr176Met)
|
|
|
|
NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)
|
|
|
|
NM_001374675.1(HSF4):c.156C>A (p.Ser52Arg)
|
|
|
|
NM_001374736.1(DST):c.4009A>G (p.Ile1337Val)
|
|
|
|
NM_001374736.1(DST):c.503C>T (p.Ser168Phe)
|
|
|
|
NM_001374828.1(ARID1B):c.1286C>T (p.Ala429Val)
|
|
|
|
NM_001374828.1(ARID1B):c.1492G>T (p.Ala498Ser)
|
|
|
|
NM_001374828.1(ARID1B):c.1663G>A (p.Gly555Ser)
|
|
|
|
NM_001374828.1(ARID1B):c.2016G>T (p.Val672=)
|
|
|
|
NM_001374828.1(ARID1B):c.2357C>T (p.Ala786Val)
|
|
|
|
NM_001374828.1(ARID1B):c.6507G>C (p.Leu2169Phe)
|
|
|
|
NM_001374828.1(ARID1B):c.988C>A (p.Arg330Ser)
|
rs2114981971
|
|
|
NM_001375380.1(EBF3):c.*10T>C
|
rs2133928026
|
|
|
NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn)
|
rs2134649012
|
|
|
NM_001375380.1(EBF3):c.412-11C>A
|
|
|
|
NM_001375380.1(EBF3):c.437A>G (p.Lys146Arg)
|
|
|
|
NM_001375405.1(CEP120):c.1469T>C (p.Met490Thr)
|
|
|
|
NM_001375405.1(CEP120):c.321+14G>A
|
|
|
|
NM_001375524.1(TRRAP):c.10667_10668del (p.Glu3556fs)
|
|
|
|
NM_001375524.1(TRRAP):c.3407C>T (p.Pro1136Leu)
|
|
|
|
NM_001375524.1(TRRAP):c.4900G>C (p.Gly1634Arg)
|
|
|
|
NM_001375524.1(TRRAP):c.619A>G (p.Ser207Gly)
|
|
|
|
NM_001375524.1(TRRAP):c.8702G>C (p.Cys2901Ser)
|
|
|
|
NM_001375524.1(TRRAP):c.9108G>T (p.Ala3036=)
|
|
|
|
NM_001375524.1(TRRAP):c.9711C>T (p.Cys3237=)
|
|
|
|
NM_001376.5(DYNC1H1):c.11475C>T (p.Tyr3825=)
|
|
|
|
NM_001376.5(DYNC1H1):c.1151T>C (p.Ile384Thr)
|
|
|
|
NM_001376.5(DYNC1H1):c.11952C>T (p.Gly3984=)
|
|
|
|
NM_001376.5(DYNC1H1):c.13308G>T (p.Gln4436His)
|
|
|
|
NM_001376.5(DYNC1H1):c.223C>T (p.His75Tyr)
|
|
|
|
NM_001376.5(DYNC1H1):c.3911T>C (p.Leu1304Pro)
|
|
|
|
NM_001376.5(DYNC1H1):c.4140T>G (p.Tyr1380Ter)
|
rs1567006190
|
|
|
NM_001376.5(DYNC1H1):c.4250T>C (p.Met1417Thr)
|
|
|
|
NM_001376.5(DYNC1H1):c.4289C>A (p.Thr1430Asn)
|
rs1171366952
|
|
|
NM_001376.5(DYNC1H1):c.5499C>G (p.Ala1833=)
|
|
|
|
NM_001376.5(DYNC1H1):c.6406-4G>C
|
rs374602014
|
|
|
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys)
|
rs879254019
|
|
|
NM_001376.5(DYNC1H1):c.8209_8210insT (p.Asp2737fs)
|
|
|
|
NM_001376571.1(MADD):c.1705+15C>T
|
|
|
|
NM_001376571.1(MADD):c.640A>G (p.Ile214Val)
|
|
|
|
NM_001377.3(DYNC2H1):c.10695+20del
|
|
|
|
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser)
|
rs769053227
|
|
|
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)
|
|
|
|
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly)
|
rs864622357
|
|
|
NM_001377.3(DYNC2H1):c.2702+1G>A
|
rs864622358
|
|
|
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)
|
|
|
|
NM_001377.3(DYNC2H1):c.6206T>C (p.Val2069Ala)
|
|
|
|
NM_001377.3(DYNC2H1):c.7844T>C (p.Leu2615Pro)
|
|
|
|
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe)
|
rs770800903
|
|
|
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)
|
rs1437320571
|
|
|
NM_001377.3(DYNC2H1):c.8354C>A (p.Ala2785Glu)
|
|
|
|
NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe)
|
rs1858493502
|
|
|
NM_001377265.1(MAPT):c.133+16T>C
|
|
|
|
NM_001377265.1(MAPT):c.1571C>G (p.Thr524Ser)
|
|
|
|
NM_001377304.1(GFI1B):c.-16G>A
|
|
|
|
NM_001377304.1(GFI1B):c.548G>A (p.Arg183Gln)
|
|
|
|
NM_001377405.1(ATXN7):c.143A>G (p.Gln48Arg)
|
|
|
|
NM_001377540.1(SLMAP):c.2311-13del
|
rs3832206
|
|
|
NM_001378030.1(CCDC78):c.492+14C>T
|
|
|
|
NM_001378120.1(MBD5):c.1504C>T (p.Pro502Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter)
|
rs1553518593
|
|
|
NM_001378120.1(MBD5):c.156A>G (p.Thr52=)
|
rs796958008
|
|
|
NM_001378120.1(MBD5):c.853G>A (p.Val285Ile)
|
|
|
|
NM_001378183.1(PIEZO2):c.1373C>G (p.Ser458Cys)
|
|
|
|
NM_001378183.1(PIEZO2):c.2665G>T (p.Glu889Ter)
|
|
|
|
NM_001378183.1(PIEZO2):c.2743G>A (p.Gly915Arg)
|
rs750411760
|
|
|
NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser)
|
|
|
|
NM_001378183.1(PIEZO2):c.4775_4778del (p.Lys1592fs)
|
|
|
|
NM_001378183.1(PIEZO2):c.487G>A (p.Glu163Lys)
|
|
|
|
NM_001378183.1(PIEZO2):c.6584C>A (p.Ser2195Ter)
|
|
|
|
NM_001378183.1(PIEZO2):c.6775A>G (p.Met2259Val)
|
|
|
|
NM_001378183.1(PIEZO2):c.8216A>T (p.Tyr2739Phe)
|
|
|
|
NM_001378418.1(TCF20):c.118A>G (p.Asn40Asp)
|
|
|
|
NM_001378418.1(TCF20):c.1602G>A (p.Val534=)
|
|
|
|
NM_001378418.1(TCF20):c.1655C>T (p.Ala552Val)
|
|
|
|
NM_001378418.1(TCF20):c.1783G>A (p.Gly595Arg)
|
|
|
|
NM_001378418.1(TCF20):c.2061A>C (p.Ala687=)
|
|
|
|
NM_001378418.1(TCF20):c.2120A>G (p.Tyr707Cys)
|
|
|
|
NM_001378418.1(TCF20):c.2305T>C (p.Ser769Pro)
|
rs2147212306
|
|
|
NM_001378418.1(TCF20):c.2594C>A (p.Ser865Ter)
|
|
|
|
NM_001378418.1(TCF20):c.317C>T (p.Pro106Leu)
|
|
|
|
NM_001378418.1(TCF20):c.3399_3401dup (p.Arg1133_Ser1134insArg)
|
|
|
|
NM_001378418.1(TCF20):c.3521G>T (p.Gly1174Val)
|
|
|
|
NM_001378418.1(TCF20):c.4387G>A (p.Ala1463Thr)
|
|
|
|
NM_001378418.1(TCF20):c.5641dup (p.Ile1881fs)
|
rs2147193284
|
|
|
NM_001378418.1(TCF20):c.5666A>G (p.His1889Arg)
|
rs2147094662
|
|
|
NM_001378418.1(TCF20):c.5750-14C>A
|
|
|
|
NM_001378418.1(TCF20):c.5753G>C (p.Cys1918Ser)
|
|
|
|
NM_001378418.1(TCF20):c.7T>C (p.Ser3Pro)
|
|
|
|
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)
|
rs2124927471
|
|
|
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=)
|
rs34635052
|
|
|
NM_001378452.1(ITPR1):c.5980-6T>C
|
|
|
|
NM_001378452.1(ITPR1):c.6180+13C>T
|
|
|
|
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
|
|
|
|
NM_001378452.1(ITPR1):c.8145A>C (p.Lys2715Asn)
|
|
|
|
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly)
|
rs1559603629
|
|
|
NM_001378454.1(ALMS1):c.10051G>C (p.Glu3351Gln)
|
|
|
|
NM_001378454.1(ALMS1):c.10213+12G>A
|
rs527508238
|
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
|
NM_001378454.1(ALMS1):c.10577T>G (p.Met3526Arg)
|
|
|
|
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His)
|
rs2104105279
|
|
|
NM_001378454.1(ALMS1):c.10928C>G (p.Ser3643Cys)
|
|
|
|
NM_001378454.1(ALMS1):c.11316G>T (p.Glu3772Asp)
|
rs1019748558
|
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
|
NM_001378454.1(ALMS1):c.11547+3A>T
|
rs1271250182
|
|
|
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter)
|
rs1675625092
|
|
|
NM_001378454.1(ALMS1):c.11873-11G>T
|
rs571456553
|
|
|
NM_001378454.1(ALMS1):c.12109C>G (p.Leu4037Val)
|
rs1675685897
|
|
|
NM_001378454.1(ALMS1):c.12115-8del
|
rs748193431
|
|
|
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=)
|
rs374508659
|
|
|
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=)
|
rs776912137
|
|
|
NM_001378454.1(ALMS1):c.12298+7C>G
|
rs1252100215
|
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+17del
|
rs563514664
|
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+18delinsT
|
|
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
|
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs)
|
rs2104216255
|
|
|
NM_001378454.1(ALMS1):c.12448C>T (p.Gln4150Ter)
|
rs2104216417
|
|
|
NM_001378454.1(ALMS1):c.12475C>T (p.Gln4159Ter)
|
|
|
|
NM_001378454.1(ALMS1):c.12481C>T (p.Leu4161=)
|
|
|
|
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
|
|
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
|
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter)
|
rs773971557
|
|
|
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
|
|
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
|
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs)
|
rs387906313
|
|
|
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg)
|
rs1671860790
|
|
|
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=)
|
rs368947491
|
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
|
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp)
|
rs754424459
|
|
|
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
|
|
|
|
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu)
|
rs746640196
|
|
|
NM_001378454.1(ALMS1):c.281del (p.Pro94fs)
|
rs2104060044
|
|
|
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
|
|
|
|
NM_001378454.1(ALMS1):c.3323A>C (p.Gln1108Pro)
|
rs570286860
|
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
|
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)
|
rs1558648759
|
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
|
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
|
|
|
|
NM_001378454.1(ALMS1):c.3763G>C (p.Asp1255His)
|
|
|
|
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
|
|
|
|
NM_001378454.1(ALMS1):c.4084G>C (p.Val1362Leu)
|
rs534858351
|
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
|
NM_001378454.1(ALMS1):c.45G>A (p.Glu15=)
|
rs1558624512
|
|
|
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
|
rs751003573
|
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
|
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile)
|
rs755683870
|
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
|
NM_001378454.1(ALMS1):c.5362G>A (p.Val1788Ile)
|
rs1224043321
|
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
|
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
|
|
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
|
NM_001378454.1(ALMS1):c.557A>T (p.Asp186Val)
|
rs375830111
|
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
|
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)
|
rs28730854
|
|
|
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu)
|
rs28730854
|
|
|
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His)
|
rs1386959032
|
|
|
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=)
|
rs1574423753
|
|
|
NM_001378454.1(ALMS1):c.6864T>G (p.Asp2288Glu)
|
rs2103791762
|
|
|
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
|
rs200470452
|
|
|
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg)
|
rs1672006091
|
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
|
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=)
|
rs1572938980
|
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
|
NM_001378454.1(ALMS1):c.7675-13_7675-10del
|
|
|
|
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
|
|
|
|
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)
|
rs549857076
|
|
|
NM_001378454.1(ALMS1):c.8114C>T (p.Pro2705Leu)
|
|
|
|
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
|
|
|
NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)
|
|
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
|
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly)
|
rs1672950843
|
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
|
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=)
|
rs1386201636
|
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
|
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)
|
|
|
|
NM_001378454.1(ALMS1):c.9540-11T>C
|
|
|
|
NM_001378454.1(ALMS1):c.9782-1269_9859del
|
|
|
|
NM_001378454.1(ALMS1):c.9782-1271_9845del
|
|
|
|
NM_001378454.1(ALMS1):c.9914A>T (p.Asn3305Ile)
|
|
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
|
NM_001378457.1(DMXL2):c.4731A>G (p.Thr1577=)
|
|
|
|
NM_001378457.1(DMXL2):c.6416A>T (p.Glu2139Val)
|
|
|
|
NM_001378457.1(DMXL2):c.6775C>T (p.Leu2259=)
|
|
|
|
NM_001378457.1(DMXL2):c.8526+8T>C
|
rs768003104
|
|
|
NM_001378457.1(DMXL2):c.8777C>T (p.Thr2926Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)
|
rs375278294
|
|
|
NM_001378615.1(CC2D2A):c.4175del (p.Pro1392fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
|
NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys)
|
rs777158229
|
|
|
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His)
|
rs1064794798
|
|
|
NM_001378789.1(CERS3):c.118T>C (p.Tyr40His)
|
rs2142329812
|
|
|
NM_001378789.1(CERS3):c.686G>A (p.Arg229His)
|
|
|
|
NM_001378964.1(CDON):c.173G>A (p.Arg58His)
|
|
|
|
NM_001378969.1(KCND3):c.1559G>A (p.Cys520Tyr)
|
|
|
|
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)
|
rs397515475
|
|
|
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
|
|
|
|
NM_001378974.1(FBXW11):c.937G>A (p.Val313Ile)
|
rs377635644
|
|
|
NM_001379029.1(CERT1):c.1201G>C (p.Val401Leu)
|
|
|
|
NM_001379029.1(CERT1):c.1346C>T (p.Ala449Val)
|
|
|
|
NM_001379029.1(CERT1):c.1613C>T (p.Ala538Val)
|
|
|
|
NM_001379029.1(CERT1):c.1636C>T (p.Arg546Cys)
|
|
|
|
NM_001379029.1(CERT1):c.554G>T (p.Cys185Phe)
|
|
|
|
NM_001379029.1(CERT1):c.871T>C (p.Tyr291His)
|
|
|
|
NM_001379029.1(CERT1):c.96+19C>T
|
|
|
|
NM_001379081.2(FREM1):c.3236C>T (p.Ser1079Phe)
|
|
|
|
NM_001379110.1(SLC9A6):c.-57+21del
|
rs782431608
|
|
|
NM_001379110.1(SLC9A6):c.163A>G (p.Ile55Val)
|
|
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
|
NM_001379200.1(TBX1):c.1096G>T (p.Asp366Tyr)
|
|
|
|
NM_001379200.1(TBX1):c.1513T>A (p.Ter505Lys)
|
|
|
|
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
|
|
|
|
NM_001379210.1(SLC25A26):c.-13G>A
|
|
|
|
NM_001379210.1(SLC25A26):c.191-1G>T
|
|
|
|
NM_001379270.1(CNGA1):c.545+5C>T
|
|
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
|
NM_001379403.1(WDR26):c.1163-14A>G
|
|
|
|
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln)
|
rs1673967254
|
|
|
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)
|
rs1572163072
|
|
|
NM_001379403.1(WDR26):c.2063G>A (p.Ser688Asn)
|
|
|
|
NM_001379403.1(WDR26):c.2249A>G (p.Gln750Arg)
|
|
|
|
NM_001379403.1(WDR26):c.523A>G (p.Asn175Asp)
|
|
|
|
NM_001379451.1(BCORL1):c.2080G>A (p.Val694Met)
|
|
|
|
NM_001379451.1(BCORL1):c.3463C>A (p.Pro1155Thr)
|
|
|
|
NM_001379451.1(BCORL1):c.3960AGA[3] (p.Glu1324dup)
|
rs1292902846
|
|
|
NM_001379451.1(BCORL1):c.4274A>G (p.Lys1425Arg)
|
rs2124502701
|
|
|
NM_001379500.1(COL18A1):c.-2G>A
|
rs1321675148
|
|
|
NM_001379500.1(COL18A1):c.107-11397G>T
|
|
|
|
NM_001379500.1(COL18A1):c.107-11586del
|
|
|
|
NM_001379500.1(COL18A1):c.2869-8G>T
|
rs770714794
|
|
|
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3])
|
rs759403198
|
|
|
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
|
|
|
|
NM_001379610.1(SPINK1):c.*10_*38del
|
|
|
|
NM_001379610.1(SPINK1):c.*64del
|
|
|
|
NM_001379610.1(SPINK1):c.-1C>A
|
|
|
|
NM_001379610.1(SPINK1):c.121A>G (p.Lys41Glu)
|
rs1554089812
|
|
|
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys)
|
rs1561605311
|
|
|
NM_001379610.1(SPINK1):c.165del (p.Asn56fs)
|
rs1756441909
|
|
|
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys)
|
rs1756441667
|
|
|
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly)
|
rs1223176202
|
|
|
NM_001379610.1(SPINK1):c.195-7A>G
|
rs1554089593
|
|
|
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
|
|
|
|
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe)
|
rs982462613
|
|
|
NM_001379610.1(SPINK1):c.2T>G (p.Met1Arg)
|
rs104893938
|
|
|
NM_001379610.1(SPINK1):c.35T>C (p.Leu12Ser)
|
|
|
|
NM_001379610.1(SPINK1):c.55+1G>T
|
rs1561606446
|
|
|
NM_001379610.1(SPINK1):c.56-91_56-90del
|
|
|
|
NM_001379610.1(SPINK1):c.87+7A>T
|
rs1756473313
|
|
|
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del)
|
rs767903021
|
|
|
NM_001379659.1(ZNF142):c.3757C>T (p.Arg1253Cys)
|
|
|
|
NM_001379659.1(ZNF142):c.4691C>G (p.Pro1564Arg)
|
rs200075933
|
|
|
NM_001379659.1(ZNF142):c.95C>G (p.Ser32Cys)
|
|
|
|
NM_001382241.1(TNPO2):c.648+7C>T
|
|
|
|
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
|
NM_001382567.1(STIM1):c.1138-11C>T
|
rs2094472695
|
|
|
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser)
|
rs2135170451
|
|
|
NM_001382567.1(STIM1):c.792-4C>A
|
rs200996329
|
|
|
NM_001383.6(DPH1):c.103G>T (p.Glu35Ter)
|
|
|
|
NM_001383.6(DPH1):c.1086+2dup
|
|
|
|
NM_001383.6(DPH1):c.786_788del (p.Tyr263del)
|
|
|
|
NM_001383.6(DPH1):c.801_803del (p.Met268del)
|
|
|
|
NM_001384125.1(BLTP1):c.12617-2A>G
|
|
|
|
NM_001384125.1(BLTP1):c.3925C>T (p.Arg1309Ter)
|
|
|
|
NM_001384125.1(BLTP1):c.4719G>A (p.Met1573Ile)
|
|
|
|
NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter)
|
|
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
|
NM_001384140.1(PCDH15):c.157+41373T>C
|
|
|
|
NM_001384140.1(PCDH15):c.1590+20A>G
|
rs7093302
|
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
|
|
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)
|
rs137853004
|
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
|
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
|
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
|
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)
|
rs2133664431
|
|
|
NM_001384140.1(PCDH15):c.3502-14del
|
rs5785023
|
|
|
NM_001384140.1(PCDH15):c.3502-14dup
|
rs5785023
|
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
|
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
|
|
|
|
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser)
|
rs397517459
|
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
|
NM_001384140.1(PCDH15):c.895A>G (p.Ile299Val)
|
|
|
|
NM_001384474.1(LOXHD1):c.1419C>G (p.Ile473Met)
|
rs545358723
|
|
|
NM_001384474.1(LOXHD1):c.1519-2A>T
|
|
|
|
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
|
|
|
|
NM_001384474.1(LOXHD1):c.2695C>T (p.Arg899Trp)
|
|
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
|
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs)
|
rs974766727
|
|
|
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)
|
rs1555679863
|
|
|
NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)
|
|
|
|
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter)
|
rs1166673793
|
|
|
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
|
|
|
|
NM_001384474.1(LOXHD1):c.6049+4T>C
|
|
|
|
NM_001384474.1(LOXHD1):c.6052T>C (p.Tyr2018His)
|
|
|
|
NM_001384474.1(LOXHD1):c.6341+4T>G
|
|
|
|
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.1122-2A>G
|
|
|
|
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
|
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.3358A>G (p.Met1120Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.3908T>C (p.Val1303Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.4168_4177delinsGTTG (p.Leu1390_Cys1393delinsValGly)
|
rs2151198005
|
|
|
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.5421+5_5421+11delinsTGATAAATACAATTGATA
|
|
|
|
NM_001384732.1(CPLANE1):c.5819_5820+1del
|
rs750448104
|
|
|
NM_001384732.1(CPLANE1):c.7234-2_7234del
|
|
|
|
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe)
|
rs1561422940
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
|
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
|
|
|
|
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.9610G>T (p.Glu3204Ter)
|
|
|
|
NM_001385012.1(NBEA):c.4928-17A>G
|
|
|
|
NM_001385012.1(NBEA):c.6179+6_6179+7del
|
|
|
|
NM_001385012.1(NBEA):c.8168T>G (p.Phe2723Cys)
|
|
|
|
NM_001385012.1(NBEA):c.872A>G (p.Tyr291Cys)
|
rs2152563405
|
|
|
NM_001385079.1(PDE10A):c.2220-9A>C
|
|
|
|
NM_001385875.1(ZFYVE27):c.101C>T (p.Ala34Val)
|
|
|
|
NM_001385875.1(ZFYVE27):c.1089+10T>A
|
|
|
|
NM_001386135.1(AFF3):c.3544G>A (p.Ala1182Thr)
|
|
|
|
NM_001386140.1(MTTP):c.1655C>T (p.Pro552Leu)
|
rs758371780
|
|
|
NM_001386140.1(MTTP):c.2125G>A (p.Gly709Arg)
|
|
|
|
NM_001386140.1(MTTP):c.2212del (p.Ser738fs)
|
rs755681036
|
|
|
NM_001386140.1(MTTP):c.2342+1G>A
|
|
|
|
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)
|
rs1560614646
|
|
|
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)
|
rs762901763
|
|
|
NM_001386298.1(CIC):c.1397C>T (p.Pro466Leu)
|
|
|
|
NM_001386298.1(CIC):c.1800C>T (p.Ala600=)
|
|
|
|
NM_001386298.1(CIC):c.1828C>T (p.Arg610Cys)
|
|
|
|
NM_001386298.1(CIC):c.3143G>A (p.Arg1048Gln)
|
rs760049446
|
|
|
NM_001386298.1(CIC):c.355AAG[2] (p.Lys121del)
|
|
|
|
NM_001386298.1(CIC):c.3892C>G (p.Pro1298Ala)
|
rs199556766
|
|
|
NM_001386298.1(CIC):c.3898C>T (p.Pro1300Ser)
|
|
|
|
NM_001386298.1(CIC):c.4334C>G (p.Ala1445Gly)
|
|
|
|
NM_001386298.1(CIC):c.5650A>G (p.Ser1884Gly)
|
|
|
|
NM_001386393.1(PANK2):c.-21G>T
|
rs780551883
|
|
|
NM_001386393.1(PANK2):c.1009G>A (p.Asp337Asn)
|
|
|
|
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)
|
rs137852963
|
|
|
NM_001386393.1(PANK2):c.1083-3_1083-2del
|
rs760705943
|
|
|
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln)
|
rs1241995212
|
|
|
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
|
|
|
|
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)
|
rs1193865095
|
|
|
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)
|
rs137852960
|
|
|
NM_001386393.1(PANK2):c.416G>C (p.Arg139Pro)
|
|
|
|
NM_001386393.1(PANK2):c.457A>T (p.Ile153Phe)
|
|
|
|
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs)
|
rs750440690
|
|
|
NM_001386393.1(PANK2):c.568A>G (p.Arg190Gly)
|
|
|
|
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)
|
rs777414421
|
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
|
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)
|
rs1555788619
|
|
|
NM_001386795.1(DTNA):c.148+8T>C
|
|
|
|
NM_001386795.1(DTNA):c.1532+18T>C
|
rs115712655
|
|
|
NM_001386795.1(DTNA):c.1561C>T (p.Arg521Trp)
|
|
|
|
NM_001386795.1(DTNA):c.1646+17A>G
|
|
|
|
NM_001386795.1(DTNA):c.1646+18T>C
|
|
|
|
NM_001386795.1(DTNA):c.1744-10G>T
|
rs192561043
|
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
|
NM_001386795.1(DTNA):c.1821G>T (p.Ala607=)
|
rs9959365
|
|
|
NM_001386795.1(DTNA):c.2083G>T (p.Ala695Ser)
|
|
|
|
NM_001386795.1(DTNA):c.2295+5A>G
|
rs191417978
|
|
|
NM_001386795.1(DTNA):c.231C>T (p.Asn77=)
|
rs147759402
|
|
|
NM_001386795.1(DTNA):c.828C>T (p.Ala276=)
|
rs756146461
|
|
|
NM_001387430.1(SH2B1):c.872G>A (p.Arg291His)
|
|
|
|
NM_001388492.1(HTT):c.2434C>T (p.Arg812Trp)
|
|
|
|
NM_001393504.1(MAST3):c.1477G>A (p.Val493Met)
|
|
|
|
NM_001393769.1(MED12L):c.1846G>T (p.Ala616Ser)
|
|
|
|
NM_001393769.1(MED12L):c.2381G>T (p.Ser794Ile)
|
rs2150018879
|
|
|
NM_001393769.1(MED12L):c.4238T>C (p.Met1413Thr)
|
|
|
|
NM_001393769.1(MED12L):c.5828C>T (p.Pro1943Leu)
|
|
|
|
NM_001393769.1(MED12L):c.680T>G (p.Met227Arg)
|
|
|
|
NM_001393769.1(MED12L):c.787A>G (p.Arg263Gly)
|
|
|
|
NM_001394062.1(MACF1):c.13807A>G (p.Ile4603Val)
|
|
|
|
NM_001394062.1(MACF1):c.171+3A>C
|
|
|
|
NM_001394062.1(MACF1):c.2864_2865delinsCT (p.Trp955Ser)
|
rs1646259225
|
|
|
NM_001394062.1(MACF1):c.3989A>G (p.Gln1330Arg)
|
|
|
|
NM_001394073.1(HS6ST2):c.1742C>T (p.Pro581Leu)
|
|
|
|
NM_001394073.1(HS6ST2):c.536A>G (p.Gln179Arg)
|
|
|
|
NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)
|
|
|
|
NM_001394372.1(BICRA):c.4304T>G (p.Val1435Gly)
|
|
|
|
NM_001394998.1(TANC2):c.2107T>A (p.Ser703Thr)
|
|
|
|
NM_001394998.1(TANC2):c.77G>A (p.Ser26Asn)
|
|
|
|
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
|
|
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
|
NM_001395413.1(POR):c.1928_1930del (p.Phe643del)
|
|
|
|
NM_001395413.1(POR):c.2032T>G (p.Ter678Glu)
|
rs782566269
|
|
|
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del)
|
rs782434696
|
|
|
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
|
|
|
|
NM_001395413.1(POR):c.804C>A (p.Ser268Arg)
|
rs201598971
|
|
|
NM_001395413.1(POR):c.821+1G>A
|
|
|
|
NM_001397.3(ECE1):c.1601C>T (p.Ala534Val)
|
|
|
|
NM_001399.5(EDA):c.398T>C (p.Met133Thr)
|
|
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
|
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])
|
rs876657686
|
|
|
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)
|
rs397516677
|
|
|
NM_001399.5(EDA):c.931T>C (p.Tyr311His)
|
rs1085307599
|
|
|
NM_001414.4(EIF2B1):c.13+5A>G
|
|
|
|
NM_001414.4(EIF2B1):c.577G>A (p.Val193Ile)
|
rs1028819794
|
|
|
NM_001414.4(EIF2B1):c.627+3A>G
|
|
|
|
NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs)
|
rs746435041
|
|
|
NM_001429.4(EP300):c.2596C>A (p.Pro866Thr)
|
|
|
|
NM_001429.4(EP300):c.3261+3A>G
|
|
|
|
NM_001429.4(EP300):c.3569C>T (p.Thr1190Ile)
|
|
|
|
NM_001429.4(EP300):c.3772T>C (p.Cys1258Arg)
|
rs2145756430
|
|
|
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
|
|
|
|
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
|
|
|
|
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)
|
rs769721953
|
|
|
NM_001429.4(EP300):c.6722A>G (p.Gln2241Arg)
|
|
|
|
NM_001447.3(FAT2):c.10027G>T (p.Val3343Leu)
|
|
|
|
NM_001447.3(FAT2):c.10054del (p.Pro3351_Leu3352insTer)
|
|
|
|
NM_001447.3(FAT2):c.11171T>C (p.Met3724Thr)
|
|
|
|
NM_001447.3(FAT2):c.12538G>C (p.Val4180Leu)
|
|
|
|
NM_001447.3(FAT2):c.1277G>A (p.Arg426Lys)
|
|
|
|
NM_001447.3(FAT2):c.12933_12936del (p.Cys4312fs)
|
|
|
|
NM_001447.3(FAT2):c.2197C>T (p.Pro733Ser)
|
|
|
|
NM_001447.3(FAT2):c.3214C>A (p.Arg1072Ser)
|
|
|
|
NM_001447.3(FAT2):c.3337G>A (p.Gly1113Ser)
|
|
|
|
NM_001447.3(FAT2):c.555T>C (p.Tyr185=)
|
|
|
|
NM_001447.3(FAT2):c.5629T>C (p.Tyr1877His)
|
|
|
|
NM_001447.3(FAT2):c.6927T>C (p.Tyr2309=)
|
|
|
|
NM_001447.3(FAT2):c.698G>A (p.Gly233Asp)
|
|
|
|
NM_001447.3(FAT2):c.7359G>T (p.Arg2453Ser)
|
|
|
|
NM_001447.3(FAT2):c.8147T>C (p.Val2716Ala)
|
|
|
|
NM_001447.3(FAT2):c.8703C>T (p.Asp2901=)
|
|
|
|
NM_001447.3(FAT2):c.9811+15C>T
|
|
|
|
NM_001448.3(GPC4):c.1028C>T (p.Pro343Leu)
|
|
|
|
NM_001457.4(FLNB):c.1925G>A (p.Gly642Asp)
|
|
|
|
NM_001457.4(FLNB):c.2056-15_2056-10del
|
|
|
|
NM_001457.4(FLNB):c.2484+8G>T
|
rs759532391
|
|
|
NM_001457.4(FLNB):c.317A>G (p.Asn106Ser)
|
|
|
|
NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn)
|
|
|
|
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr)
|
rs1356745912
|
|
|
NM_001457.4(FLNB):c.6367+7G>C
|
rs201871482
|
|
|
NM_001457.4(FLNB):c.7770A>G (p.Glu2590=)
|
|
|
|
NM_001458.5(FLNC):c.1549+2T>G
|
rs111806457
|
|
|
NM_001458.5(FLNC):c.174C>A (p.Thr58=)
|
rs763488290
|
|
|
NM_001458.5(FLNC):c.1880_1887del (p.Asp627fs)
|
|
|
|
NM_001458.5(FLNC):c.2007+18A>T
|
|
|
|
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser)
|
rs2128932240
|
|
|
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys)
|
rs1808552408
|
|
|
NM_001458.5(FLNC):c.4024G>C (p.Val1342Leu)
|
|
|
|
NM_001458.5(FLNC):c.4150G>A (p.Gly1384Ser)
|
|
|
|
NM_001458.5(FLNC):c.42G>A (p.Leu14=)
|
|
|
|
NM_001458.5(FLNC):c.4323G>A (p.Val1441=)
|
|
|
|
NM_001458.5(FLNC):c.4737+20A>G
|
|
|
|
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr)
|
rs1390516682
|
|
|
NM_001458.5(FLNC):c.7122C>G (p.Val2374=)
|
rs374711133
|
|
|
NM_001458.5(FLNC):c.7389G>A (p.Lys2463=)
|
rs2128940211
|
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
rs2128940399
|
|
|
NM_001458.5(FLNC):c.7990+19G>T
|
rs534098005
|
|
|
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=)
|
rs2128940705
|
|
|
NM_001478.5(B4GALNT1):c.584del (p.Gly195fs)
|
|
|
|
NM_001482.3(GATM):c.1159+17A>T
|
|
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
|
NM_001493.3(GDI1):c.275T>C (p.Leu92Pro)
|
rs121434607
|
|
|
NM_001493.3(GDI1):c.706C>T (p.Gln236Ter)
|
rs2148228335
|
|
|
NM_001527.4(HDAC2):c.323T>C (p.Phe108Ser)
|
rs1776561501
|
|
|
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln)
|
rs587781250
|
|
|
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
|
rs367662394
|
|
|
NM_001556.3(IKBKB):c.1673del (p.Gly558fs)
|
|
|
|
NM_001556.3(IKBKB):c.2115-8T>C
|
rs2130735549
|
|
|
NM_001556.3(IKBKB):c.2205+2T>C
|
rs2130736002
|
|
|
NM_001556.3(IKBKB):c.2269T>C (p.Ter757Arg)
|
|
|
|
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter)
|
rs1818665697
|
|
|
NM_001571.6(IRF3):c.1004G>A (p.Gly335Glu)
|
|
|
|
NM_001571.6(IRF3):c.286C>T (p.Arg96Trp)
|
|
|
|
NM_001571.6(IRF3):c.84C>G (p.Asn28Lys)
|
|
|
|
NM_001605.3(AARS1):c.1980dup (p.Glu661Ter)
|
|
|
|
NM_001605.3(AARS1):c.2607+13C>A
|
|
|
|
NM_001605.3(AARS1):c.2722-28_2740dup
|
rs768242660
|
|
|
NM_001609.4(ACADSB):c.1A>T (p.Met1Leu)
|
|
|
|
NM_001609.4(ACADSB):c.908G>C (p.Gly303Ala)
|
|
|
|
NM_001611.5(ACP5):c.418C>T (p.His140Tyr)
|
rs2145089608
|
|
|
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
|
rs794728021
|
|
|
NM_001613.4(ACTA2):c.139G>A (p.Val47Met)
|
rs1181233032
|
|
|
NM_001613.4(ACTA2):c.274T>C (p.Phe92Leu)
|
|
|
|
NM_001613.4(ACTA2):c.495C>A (p.Val165=)
|
rs1253704403
|
|
|
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)
|
rs886039303
|
|
|
NM_001613.4(ACTA2):c.612T>C (p.Thr204=)
|
rs1554841258
|
|
|
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)
|
rs397516685
|
|
|
NM_001613.4(ACTA2):c.808+15C>T
|
|
|
|
NM_001613.4(ACTA2):c.991-7C>T
|
rs765100909
|
|
|
NM_001614.5(ACTG1):c.270C>A (p.Phe90Leu)
|
|
|
|
NM_001614.5(ACTG1):c.363+12_363+13delinsAA
|
|
|
|
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp)
|
rs1598548614
|
|
|
NM_001614.5(ACTG1):c.803-15G>T
|
|
|
|
NM_001625.4(AK2):c.330+1G>C
|
rs1639559794
|
|
|
NM_001625.4(AK2):c.498_499dup (p.Ile167fs)
|
rs1638975235
|
|
|
NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs)
|
rs1398317449
|
|
|
NM_001625.4(AK2):c.523C>G (p.Arg175Gly)
|
rs1375379850
|
|
|
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter)
|
rs1638959411
|
|
|
NM_001643.2(APOA2):c.293C>A (p.Ala98Asp)
|
rs1666183842
|
|
|
NM_001643.2(APOA2):c.53-11_53-4del
|
rs753413807
|
|
|
NM_001643.2(APOA2):c.53-43TG[13]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[14]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[15]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[16]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[18]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[20]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[22]
|
rs17244502
|
|
|
NM_001655.5(ARCN1):c.428T>G (p.Val143Gly)
|
|
|
|
NM_001655.5(ARCN1):c.479G>A (p.Arg160His)
|
|
|
|
NM_001658.4(ARF1):c.283A>C (p.Asn95His)
|
|
|
|
NM_001673.5(ASNS):c.1138G>T (p.Ala380Ser)
|
rs758183057
|
|
|
NM_001673.5(ASNS):c.1174_1175dup (p.Leu393fs)
|
|
|
|
NM_001673.5(ASNS):c.1209_1211delinsGCA (p.Arg404His)
|
|
|
|
NM_001673.5(ASNS):c.1283del (p.Tyr428fs)
|
|
|
|
NM_001673.5(ASNS):c.1578C>A (p.Tyr526Ter)
|
|
|
|
NM_001673.5(ASNS):c.347T>C (p.Met116Thr)
|
rs76704189
|
|
|
NM_001673.5(ASNS):c.478del (p.Glu160fs)
|
rs797045307
|
|
|
NM_001673.5(ASNS):c.540del (p.Leu181fs)
|
rs866033169
|
|
|
NM_001673.5(ASNS):c.750_753del (p.Asp250fs)
|
rs2115654584
|
|
|
NM_001673.5(ASNS):c.751A>G (p.Arg251Gly)
|
|
|
|
NM_001673.5(ASNS):c.753_755del (p.Arg252del)
|
rs752897486
|
|
|
NM_001673.5(ASNS):c.776-5T>G
|
|
|
|
NM_001677.4(ATP1B1):c.135C>T (p.Cys45=)
|
rs774346745
|
|
|
NM_001677.4(ATP1B1):c.522G>A (p.Pro174=)
|
rs144685960
|
|
|
NM_001677.4(ATP1B1):c.568-20A>C
|
|
|
|
NM_001677.4(ATP1B1):c.571C>T (p.Pro191Ser)
|
rs267598155
|
|
|
NM_001677.4(ATP1B1):c.97+10G>C
|
rs1657604508
|
|
|
NM_001680.5(FXYD2):c.185A>G (p.Asn62Ser)
|
|
|
|
NM_001690.4(ATP6V1A):c.1292_1293insTCTATCTAATCTA (p.Phe432fs)
|
rs2108040640
|
|
|
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)
|
|
|
|
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del
|
rs886056273
|
|
|
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs)
|
rs1553416787
|
|
|
NM_001692.4(ATP6V1B1):c.1513C>T (p.Gln505Ter)
|
rs2104834953
|
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
|
|
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)
|
|
|
|
NM_001692.4(ATP6V1B1):c.33dup (p.Leu12fs)
|
rs1679840748
|
|
|
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_001692.4(ATP6V1B1):c.687+1G>T
|
|
|
|
NM_001693.4(ATP6V1B2):c.961C>T (p.Arg321Ter)
|
|
|
|
NM_001698.3(AUH):c.197del (p.Gly66fs)
|
rs1219516037
|
|
|
NM_001701.4(BAAT):c.134A>G (p.Tyr45Cys)
|
|
|
|
NM_001711.6(BGN):c.*18G>A
|
|
|
|
NM_001711.6(BGN):c.*20G>A
|
|
|
|
NM_001711.6(BGN):c.1023C>G (p.Pro341=)
|
rs200711767
|
|
|
NM_001711.6(BGN):c.196G>A (p.Gly66Ser)
|
|
|
|
NM_001711.6(BGN):c.333G>C (p.Lys111Asn)
|
|
|
|
NM_001711.6(BGN):c.480C>G (p.Ser160=)
|
|
|
|
NM_001711.6(BGN):c.75G>A (p.Trp25Ter)
|
|
|
|
NM_001711.6(BGN):c.771-7C>A
|
rs782014544
|
|
|
NM_001715.3(BLK):c.473-7C>T
|
|
|
|
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
|
|
|
|
NM_001715.3(BLK):c.742G>A (p.Gly248Arg)
|
rs763307492
|
|
|
NM_001733.7(C1R):c.2000G>A (p.Arg667His)
|
|
|
|
NM_001733.7(C1R):c.2073C>T (p.Leu691=)
|
|
|
|
NM_001733.7(C1R):c.395A>T (p.Lys132Met)
|
|
|
|
NM_001733.7(C1R):c.635G>A (p.Arg212Gln)
|
|
|
|
NM_001734.5(C1S):c.2001_2017dup (p.Asp673delinsGlyTer)
|
|
|
|
NM_001735.3(C5):c.3669C>A (p.Pro1223=)
|
|
|
|
NM_001735.3(C5):c.4083A>G (p.Val1361=)
|
|
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
|
NM_001742.4(CALCR):c.1358del (p.Asn453fs)
|
rs753161420
|
|
|
NM_001743.6(CALM2):c.286-18_286-17del
|
rs112882205
|
|
|
NM_001744.6(CAMK4):c.940C>T (p.Gln314Ter)
|
rs1755482400
|
|
|
NM_001752.4(CAT):c.625C>T (p.His209Tyr)
|
rs147148220
|
|
|
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)
|
rs797044916
|
|
|
NM_001807.6(CEL):c.1776del (p.Val593fs)
|
rs193922638
|
|
|
NM_001807.6(CEL):c.1974del (p.Val659fs)
|
rs1341981506
|
|
|
NM_001813.3(CENPE):c.1410T>A (p.Asp470Glu)
|
|
|
|
NM_001813.3(CENPE):c.627+17A>G
|
|
|
|
NM_001814.6(CTSC):c.-55C>A
|
|
|
|
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
|
|
|
|
NM_001814.6(CTSC):c.706G>T (p.Asp236Tyr)
|
|
|
|
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
|
|
|
|
NM_001830.4(CLCN4):c.1318A>G (p.Thr440Ala)
|
|
|
|
NM_001830.4(CLCN4):c.1506C>G (p.Asn502Lys)
|
|
|
|
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
|
|
|
|
NM_001844.5(COL2A1):c.1365+19C>A
|
|
|
|
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)
|
rs868417981
|
|
|
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)
|
rs886044555
|
|
|
NM_001844.5(COL2A1):c.1680+2T>G
|
rs1565681966
|
|
|
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=)
|
rs369684691
|
|
|
NM_001844.5(COL2A1):c.2814del (p.Gly939fs)
|
rs1555165494
|
|
|
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)
|
rs2136526614
|
|
|
NM_001844.5(COL2A1):c.292+2T>A
|
|
|
|
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)
|
rs2136522964
|
|
|
NM_001844.5(COL2A1):c.3887-2A>G
|
rs2136508967
|
|
|
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)
|
rs1592235241
|
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
|
NM_001845.6(COL4A1):c.1120+3G>A
|
|
|
|
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
|
|
|
|
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
|
|
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
|
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)
|
rs146134172
|
|
|
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)
|
|
|
|
NM_001845.6(COL4A1):c.3325+8A>C
|
|
|
|
NM_001845.6(COL4A1):c.3326-12T>G
|
|
|
|
NM_001845.6(COL4A1):c.3406+9C>T
|
|
|
|
NM_001845.6(COL4A1):c.3556+16T>A
|
|
|
|
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
|
|
|
|
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr)
|
rs794727751
|
|
|
NM_001845.6(COL4A1):c.552+17T>A
|
|
|
|
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)
|
|
|
|
NM_001845.6(COL4A1):c.843A>C (p.Gly281=)
|
|
|
|
NM_001846.4(COL4A2):c.1064C>T (p.Pro355Leu)
|
|
|
|
NM_001846.4(COL4A2):c.1340-10G>C
|
|
|
|
NM_001846.4(COL4A2):c.1754T>C (p.Phe585Ser)
|
|
|
|
NM_001846.4(COL4A2):c.1894C>T (p.Arg632Cys)
|
|
|
|
NM_001846.4(COL4A2):c.2043C>T (p.Cys681=)
|
|
|
|
NM_001846.4(COL4A2):c.2488G>A (p.Gly830Ser)
|
rs1333372502
|
|
|
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val)
|
rs2139529268
|
|
|
NM_001846.4(COL4A2):c.4557C>A (p.Tyr1519Ter)
|
rs2139558301
|
|
|
NM_001846.4(COL4A2):c.4996C>T (p.His1666Tyr)
|
rs1884100870
|
|
|
NM_001846.4(COL4A2):c.520_523delinsACA (p.Leu174fs)
|
|
|
|
NM_001846.4(COL4A2):c.684+19G>C
|
|
|
|
NM_001846.4(COL4A2):c.861+3A>G
|
|
|
|
NM_001846.4(COL4A2):c.862-7C>T
|
|
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
|
NM_001848.3(COL6A1):c.1801A>C (p.Met601Leu)
|
rs774610686
|
|
|
NM_001848.3(COL6A1):c.508G>T (p.Gly170Trp)
|
rs370889024
|
|
|
NM_001849.4(COL6A2):c.1053+1G>C
|
rs886043187
|
|
|
NM_001849.4(COL6A2):c.2351G>T (p.Arg784Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2857G>A (p.Gly953Ser)
|
|
|
|
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu)
|
rs145959270
|
|
|
NM_001849.4(COL6A2):c.350C>T (p.Ser117Phe)
|
|
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
|
NM_001849.4(COL6A2):c.955-19C>T
|
|
|
|
NM_001851.6(COL9A1):c.1719+2T>C
|
|
|
|
NM_001851.6(COL9A1):c.2504-11A>G
|
|
|
|
NM_001851.6(COL9A1):c.348G>A (p.Thr116=)
|
rs779960146
|
|
|
NM_001852.4(COL9A2):c.1506del (p.Asn503fs)
|
rs1040081238
|
|
|
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)
|
rs202153520
|
|
|
NM_001852.4(COL9A2):c.1792+5G>A
|
|
|
|
NM_001852.4(COL9A2):c.364-16A>G
|
rs1979785
|
|
|
NM_001853.4(COL9A3):c.543_551del (p.179PPG[2])
|
rs765392378
|
|
|
NM_001853.4(COL9A3):c.576+9C>G
|
rs377255816
|
|
|
NM_001853.4(COL9A3):c.893G>C (p.Gly298Ala)
|
rs764062674
|
|
|
NM_001853.4(COL9A3):c.97C>T (p.Pro33Ser)
|
rs745914662
|
|
|
NM_001854.4(COL11A1):c.106+8A>G
|
|
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
|
NM_001854.4(COL11A1):c.1309-4A>T
|
|
|
|
NM_001854.4(COL11A1):c.1630-2del
|
rs1057517989
|
|
|
NM_001854.4(COL11A1):c.1792-17T>C
|
rs2101851501
|
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
|
NM_001854.4(COL11A1):c.2196+17T>C
|
|
|
|
NM_001854.4(COL11A1):c.2394+12G>T
|
|
|
|
NM_001854.4(COL11A1):c.2809-19T>C
|
|
|
|
NM_001854.4(COL11A1):c.2864G>C (p.Gly955Ala)
|
|
|
|
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp)
|
rs778331804
|
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
|
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)
|
rs2106116333
|
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
|
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)
|
|
|
|
NM_001875.5(CPS1):c.1529del (p.Gly510fs)
|
rs764384490
|
|
|
NM_001875.5(CPS1):c.1549+1G>A
|
|
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
|
NM_001875.5(CPS1):c.1770T>G (p.Tyr590Ter)
|
rs1245368879
|
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
|
NM_001875.5(CPS1):c.2002C>T (p.Pro668Ser)
|
|
|
|
NM_001875.5(CPS1):c.2021A>T (p.Asn674Ile)
|
|
|
|
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys)
|
rs1559102901
|
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
|
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
|
|
|
|
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer)
|
rs1699000892
|
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
|
NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer)
|
rs1179151808
|
|
|
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)
|
rs121912595
|
|
|
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
|
|
|
|
NM_001875.5(CPS1):c.3069C>A (p.Asp1023Glu)
|
|
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
|
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
|
rs146968493
|
|
|
NM_001875.5(CPS1):c.3927+4A>G
|
|
|
|
NM_001875.5(CPS1):c.3953T>A (p.Leu1318Ter)
|
rs1700979727
|
|
|
NM_001875.5(CPS1):c.3959A>T (p.Asp1320Val)
|
|
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
|
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)
|
rs1202306773
|
|
|
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)
|
rs1553519513
|
|
|
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)
|
|
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
|
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
|
|
|
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
|
|
|
|
NM_001876.4(CPT1A):c.1352+5C>A
|
|
|
|
NM_001876.4(CPT1A):c.1741-1G>A
|
|
|
|
NM_001876.4(CPT1A):c.2142+6T>C
|
rs777779540
|
|
|
NM_001879.6(MASP1):c.1498del (p.Asp500fs)
|
|
|
|
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
|
|
|
|
NM_001904.4(CTNNB1):c.1863dup (p.Ala622fs)
|
|
|
|
NM_001904.4(CTNNB1):c.496-2A>G
|
|
|
|
NM_001904.4(CTNNB1):c.599G>T (p.Arg200Leu)
|
|
|
|
NM_001909.5(CTSD):c.268del (p.Gln90fs)
|
rs752612332
|
|
|
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
|
rs1845913637
|
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
|
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer)
|
rs1553229661
|
|
|
NM_001918.5(DBT):c.1281+4C>G
|
|
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
|
NM_001918.5(DBT):c.206T>G (p.Leu69Arg)
|
|
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
|
NM_001918.5(DBT):c.363_364del (p.Tyr122fs)
|
rs753574354
|
|
|
NM_001918.5(DBT):c.413T>C (p.Ile138Thr)
|
|
|
|
NM_001918.5(DBT):c.433+6G>A
|
|
|
|
NM_001918.5(DBT):c.434-1G>C
|
|
|
|
NM_001918.5(DBT):c.717_720delinsCAAACCTCCG (p.Leu240delinsLysProPro)
|
|
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
|
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
|
|
|
|
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
|
|
|
|
NM_001927.4(DES):c.582G>A (p.Leu194=)
|
rs397516696
|
|
|
NM_001927.4(DES):c.623T>C (p.Leu208Ser)
|
rs373062962
|
|
|
NM_001927.4(DES):c.700G>A (p.Glu234Lys)
|
rs774739275
|
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
|
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.2566C>G (p.Pro856Ala)
|
|
|
|
NM_001943.5(DSG2):c.-11G>A
|
rs727504450
|
|
|
NM_001943.5(DSG2):c.1194C>G (p.Ser398Arg)
|
rs770669833
|
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
|
NM_001943.5(DSG2):c.1483A>T (p.Asn495Tyr)
|
|
|
|
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)
|
rs530517936
|
|
|
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met)
|
rs794728081
|
|
|
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu)
|
rs772240008
|
|
|
NM_001943.5(DSG2):c.2235G>A (p.Thr745=)
|
rs759572082
|
|
|
NM_001943.5(DSG2):c.2435G>A (p.Gly812Asp)
|
|
|
|
NM_001943.5(DSG2):c.2524G>C (p.Gly842Arg)
|
|
|
|
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
|
rs1261674855
|
|
|
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)
|
rs2073123855
|
|
|
NM_001943.5(DSG2):c.3251C>T (p.Pro1084Leu)
|
|
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
|
NM_001943.5(DSG2):c.42_44del (p.Leu15del)
|
rs2072994567
|
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
|
NM_001943.5(DSG2):c.858C>T (p.Val286=)
|
rs1555671463
|
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
|
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)
|
rs727505205
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
|
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
|
|
|
|
NM_001953.5(TYMP):c.1135G>A (p.Glu379Lys)
|
|
|
|
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)
|
rs1064792873
|
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
|
|
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
|
|
|
|
NM_001957.4(EDNRA):c.870G>A (p.Leu290=)
|
|
|
|
NM_001958.5(EEF1A2):c.324+9G>A
|
rs2145945388
|
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
|
NM_001961.4(EEF2):c.1531G>T (p.Ala511Ser)
|
|
|
|
NM_001961.4(EEF2):c.238G>A (p.Glu80Lys)
|
|
|
|
NM_001961.4(EEF2):c.2508G>A (p.Ala836=)
|
rs761883790
|
|
|
NM_001961.4(EEF2):c.613-9C>T
|
|
|
|
NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)
|
|
|
|
NM_001966.4(EHHADH):c.828_830delinsCAT (p.Arg276_Lys277delinsSerIle)
|
rs1560008854
|
|
|
NM_001982.4(ERBB3):c.2938-3_2938-2del
|
|
|
|
NM_001982.4(ERBB3):c.3202-2A>G
|
|
|
|
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
|
|
|
|
NM_001985.3(ETFB):c.375+1G>T
|
|
|
|
NM_001987.5(ETV6):c.-29G>A
|
|
|
|
NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys)
|
rs724159945
|
|
|
NM_001987.5(ETV6):c.889C>T (p.Leu297=)
|
|
|
|
NM_001987.5(ETV6):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_001994.3(F13B):c.1803_1806delinsAAC (p.Asp601fs)
|
|
|
|
NM_001994.3(F13B):c.451+3A>G
|
|
|
|
NM_001994.3(F13B):c.64+17A>T
|
|
|
|
NM_001999.4(FBN2):c.1105G>T (p.Gly369Cys)
|
|
|
|
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
|
rs199702573
|
|
|
NM_001999.4(FBN2):c.261C>T (p.Asn87=)
|
|
|
|
NM_001999.4(FBN2):c.2637C>T (p.Pro879=)
|
|
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
|
NM_001999.4(FBN2):c.3473-16C>T
|
|
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
|
NM_001999.4(FBN2):c.3815A>G (p.Tyr1272Cys)
|
|
|
|
NM_001999.4(FBN2):c.3848-10G>T
|
rs140017238
|
|
|
NM_001999.4(FBN2):c.4098_4099delinsCA (p.Asp1367Asn)
|
|
|
|
NM_001999.4(FBN2):c.4099+12G>A
|
|
|
|
NM_001999.4(FBN2):c.4472-18T>C
|
|
|
|
NM_001999.4(FBN2):c.4472-18_4472-17delinsA
|
rs863223596
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
|
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
|
|
|
|
NM_001999.4(FBN2):c.629-26TCTT[4]
|
rs778383061
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
|
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)
|
rs28763925
|
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
|
NM_001999.4(FBN2):c.827-10C>T
|
|
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
|
NM_002016.2(FLG):c.7595C>T (p.Ser2532Leu)
|
rs756739106
|
|
|
NM_002024.6(FMR1):c.1109G>A (p.Ser370Asn)
|
|
|
|
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
|
|
|
|
NM_002025.4(AFF2):c.2725G>A (p.Glu909Lys)
|
|
|
|
NM_002025.4(AFF2):c.3267+5G>C
|
rs374064624
|
|
|
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser)
|
rs370057212
|
|
|
NM_002047.4(GARS1):c.1304A>G (p.Asn435Ser)
|
|
|
|
NM_002049.4(GATA1):c.599-10A>G
|
|
|
|
NM_002055.5(GFAP):c.1127+2T>A
|
|
|
|
NM_002055.5(GFAP):c.145C>T (p.Arg49Trp)
|
|
|
|
NM_002055.5(GFAP):c.376C>T (p.Arg126Trp)
|
|
|
|
NM_002055.5(GFAP):c.403G>A (p.Ala135Thr)
|
|
|
|
NM_002055.5(GFAP):c.428A>G (p.Asn143Ser)
|
|
|
|
NM_002055.5(GFAP):c.586G>T (p.Glu196Ter)
|
|
|
|
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)
|
rs267607507
|
|
|
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
|
rs58064122
|
|
|
NM_002055.5(GFAP):c.934G>A (p.Glu312Lys)
|
rs763868966
|
|
|
NM_002063.4(GLRA2):c.366C>T (p.Ser122=)
|
|
|
|
NM_002067.5(GNA11):c.476+1G>C
|
rs138878739
|
|
|
NM_002069.6(GNAI1):c.875-2A>G
|
|
|
|
NM_002074.5(GNB1):c.-16G>A
|
|
|
|
NM_002074.5(GNB1):c.280C>T (p.Pro94Ser)
|
rs1646671069
|
|
|
NM_002074.5(GNB1):c.916+3A>G
|
|
|
|
NM_002074.5(GNB1):c.99C>G (p.Ile33Met)
|
|
|
|
NM_002076.4(GNS):c.1098+1G>A
|
|
|
|
NM_002076.4(GNS):c.1581-2A>G
|
|
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
|
NM_002087.4(GRN):c.388_391del (p.Gln130fs)
|
rs63749801
|
|
|
NM_002087.4:c.(?_-41)_(-8+1_-7-1)del
|
|
|
|
NM_002108.4(HAL):c.840G>A (p.Trp280Ter)
|
|
|
|
NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)
|
|
|
|
NM_002113.3(CFHR1):c.259dup (p.Cys87fs)
|
|
|
|
NM_002113.3(CFHR1):c.310C>T (p.His104Tyr)
|
|
|
|
NM_002113.3(CFHR1):c.431-2A>G
|
|
|
|
NM_002113.3(CFHR1):c.654C>T (p.Asp218=)
|
|
|
|
NM_002113.3(CFHR1):c.835G>A (p.Ala279Thr)
|
|
|
|
NM_002137.4(HNRNPA2B1):c.830A>G (p.Asn277Ser)
|
|
|
|
NM_002139.4(RBMX):c.389-17T>C
|
|
|
|
NM_002139.4(RBMX):c.93T>C (p.Tyr31=)
|
|
|
|
NM_002148.4(HOXD10):c.125A>G (p.Asp42Gly)
|
|
|
|
NM_002150.3(HPD):c.163C>T (p.Arg55Trp)
|
rs2137633084
|
|
|
NM_002150.3(HPD):c.248del (p.Gly83fs)
|
|
|
|
NM_002150.3(HPD):c.460G>A (p.Gly154Ser)
|
|
|
|
NM_002150.3(HPD):c.717del (p.Ile240fs)
|
|
|
|
NM_002150.3(HPD):c.842T>A (p.Leu281Ter)
|
|
|
|
NM_002150.3(HPD):c.978C>G (p.Tyr326Ter)
|
rs781659195
|
|
|
NM_002156.5(HSPD1):c.*16T>C
|
|
|
|
NM_002156.5(HSPD1):c.1679_1687del (p.Ala560_Gly562del)
|
|
|
|
NM_002156.5(HSPD1):c.323A>C (p.Glu108Ala)
|
|
|
|
NM_002156.5(HSPD1):c.946A>G (p.Met316Val)
|
|
|
|
NM_002160.4(TNC):c.2860+3G>A
|
|
|
|
NM_002160.4(TNC):c.3637G>A (p.Val1213Ile)
|
|
|
|
NM_002160.4(TNC):c.5730C>T (p.Pro1910=)
|
|
|
|
NM_002160.4(TNC):c.5758G>T (p.Val1920Phe)
|
|
|
|
NM_002161.6(IARS1):c.632del (p.Pro211fs)
|
|
|
|
NM_002168.4(IDH2):c.1271+3G>A
|
|
|
|
NM_002168.4(IDH2):c.640G>A (p.Ala214Thr)
|
|
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
|
NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys)
|
rs1465803265
|
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
|
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)
|
rs193922640
|
|
|
NM_002185.5(IL7R):c.361dup (p.Ile121fs)
|
rs869312857
|
|
|
NM_002185.5(IL7R):c.437_438del (p.Phe146fs)
|
rs1561423197
|
|
|
NM_002185.5(IL7R):c.536C>T (p.Thr179Met)
|
|
|
|
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter)
|
rs193922643
|
|
|
NM_002185.5(IL7R):c.644G>T (p.Gly215Val)
|
rs193922645
|
|
|
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
|
|
|
|
NM_002185.5(IL7R):c.83-18A>G
|
rs193922646
|
|
|
NM_002185.5(IL7R):c.882A>C (p.Leu294Phe)
|
rs193922647
|
|
|
NM_002206.3(ITGA7):c.3184-16C>G
|
|
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
|
NM_002225.5(IVD):c.1138+3_1138+14del
|
|
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
|
NM_002225.5(IVD):c.380G>T (p.Gly127Val)
|
rs1195537609
|
|
|
NM_002225.5(IVD):c.491T>C (p.Met164Thr)
|
|
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
|
NM_002225.5(IVD):c.860T>C (p.Leu287Pro)
|
|
|
|
NM_002225.5(IVD):c.889G>A (p.Ala297Thr)
|
rs2141355228
|
|
|
NM_002226.5(JAG2):c.3046C>T (p.Arg1016Trp)
|
|
|
|
NM_002230.4(JUP):c.*18C>T
|
rs200222165
|
|
|
NM_002230.4(JUP):c.1232C>T (p.Ala411Val)
|
rs1060502680
|
|
|
NM_002230.4(JUP):c.1619G>A (p.Arg540His)
|
rs376881608
|
|
|
NM_002230.4(JUP):c.1730G>T (p.Arg577Leu)
|
rs373434456
|
|
|
NM_002230.4(JUP):c.2046+7A>G
|
|
|
|
NM_002230.4(JUP):c.2220A>G (p.Ala740=)
|
rs142102308
|
|
|
NM_002230.4(JUP):c.318G>A (p.Val106=)
|
rs1555605856
|
|
|
NM_002230.4(JUP):c.708-3dup
|
rs782230165
|
|
|
NM_002230.4(JUP):c.737C>A (p.Ala246Asp)
|
rs1419166927
|
|
|
NM_002230.4(JUP):c.842A>G (p.Asn281Ser)
|
rs574465470
|
|
|
NM_002230.4(JUP):c.879G>A (p.Gln293=)
|
rs1555604492
|
|
|
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
|
|
|
|
NM_002230.4(JUP):c.905G>A (p.Ser302Asn)
|
rs570714124
|
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
|
NM_002230.4(JUP):c.981G>A (p.Leu327=)
|
rs1295630627
|
|
|
NM_002234.4(KCNA5):c.601C>T (p.Arg201Cys)
|
rs764783669
|
|
|
NM_002249.6(KCNN3):c.470A>C (p.Gln157Pro)
|
|
|
|
NM_002249.6(KCNN3):c.592C>G (p.Leu198Val)
|
|
|
|
NM_002267.4(KPNA3):c.1028A>C (p.Asn343Thr)
|
|
|
|
NM_002292.4(LAMB2):c.1405+1G>A
|
|
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
|
NM_002294.3(LAMP2):c.1024G>A (p.Ala342Thr)
|
|
|
|
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg)
|
rs1200950486
|
|
|
NM_002294.3(LAMP2):c.463del (p.Ser155fs)
|
rs193922649
|
|
|
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr)
|
rs141541387
|
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
|
NM_002294.3(LAMP2):c.928+11C>T
|
|
|
|
NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys)
|
rs193922650
|
|
|
NM_002317.7(LOX):c.618C>A (p.Gly206=)
|
|
|
|
NM_002317.7(LOX):c.631+6T>G
|
|
|
|
NM_002317.7(LOX):c.66C>T (p.Ala22=)
|
|
|
|
NM_002317.7(LOX):c.73G>A (p.Ala25Thr)
|
|
|
|
NM_002317.7(LOX):c.91C>T (p.Pro31Ser)
|
|
|
|
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln)
|
rs569764064
|
|
|
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu)
|
rs1158745675
|
|
|
NM_002335.4(LRP5):c.169A>G (p.Ile57Val)
|
|
|
|
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln)
|
rs1019409513
|
|
|
NM_002335.4(LRP5):c.3763+2T>C
|
|
|
|
NM_002335.4(LRP5):c.753C>T (p.Tyr251=)
|
|
|
|
NM_002335.4(LRP5):c.796C>T (p.Arg266Cys)
|
|
|
|
NM_002335.4(LRP5):c.893G>A (p.Arg298His)
|
|
|
|
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter)
|
rs111033623
|
|
|
NM_002351.5(SH2D1A):c.20A>G (p.Tyr7Cys)
|
rs1569527111
|
|
|
NM_002351.5(SH2D1A):c.347-32_347-28del
|
rs200198093
|
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
|
NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)
|
|
|
|
NM_002381.5(MATN3):c.541C>G (p.Arg181Gly)
|
|
|
|
NM_002382.5(MAX):c.37-15del
|
rs747340873
|
|
|
NM_002382.5(MAX):c.37-15dup
|
rs747340873
|
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
|
NM_002408.4(MGAT2):c.76A>G (p.Ser26Gly)
|
|
|
|
NM_002427.4(MMP13):c.74del (p.Gly25fs)
|
rs748468302
|
|
|
NM_002430.3(MN1):c.113C>A (p.Ala38Asp)
|
rs1933412795
|
|
|
NM_002430.3(MN1):c.25C>G (p.Pro9Ala)
|
rs763125504
|
|
|
NM_002430.3(MN1):c.3048G>C (p.Leu1016Phe)
|
|
|
|
NM_002430.3(MN1):c.36C>A (p.Asn12Lys)
|
|
|
|
NM_002435.3(MPI):c.199dup (p.Ser67fs)
|
|
|
|
NM_002435.3(MPI):c.42G>T (p.Gln14His)
|
|
|
|
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
|
|
|
|
NM_002435.3(MPI):c.497_498del (p.Glu166fs)
|
rs2141200280
|
|
|
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)
|
rs1679497709
|
|
|
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)
|
rs267607264
|
|
|
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)
|
rs267607257
|
|
|
NM_002444.3(MSN):c.1222C>T (p.Arg408Trp)
|
rs748200741
|
|
|
NM_002449.5(MSX2):c.789G>T (p.Met263Ile)
|
|
|
|
NM_002465.4(MYBPC1):c.1526+5G>A
|
|
|
|
NM_002465.4(MYBPC1):c.283A>G (p.Lys95Glu)
|
|
|
|
NM_002470.4(MYH3):c.1259A>G (p.Gln420Arg)
|
|
|
|
NM_002470.4(MYH3):c.1821T>G (p.Val607=)
|
|
|
|
NM_002470.4(MYH3):c.1960-5C>T
|
|
|
|
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs)
|
rs766768674
|
|
|
NM_002470.4(MYH3):c.3413G>A (p.Ser1138Asn)
|
|
|
|
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter)
|
rs779530750
|
|
|
NM_002470.4(MYH3):c.5184G>A (p.Lys1728=)
|
|
|
|
NM_002470.4(MYH3):c.52C>T (p.Arg18Trp)
|
|
|
|
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)
|
rs61742472
|
|
|
NM_002471.4(MYH6):c.1131C>T (p.Asp377=)
|
rs61742472
|
|
|
NM_002471.4(MYH6):c.1243G>A (p.Gly415Arg)
|
rs576432451
|
|
|
NM_002471.4(MYH6):c.1581+10_1581+19delinsGGCCTCACG
|
|
|
|
NM_002471.4(MYH6):c.2068del (p.Leu690fs)
|
rs779614256
|
|
|
NM_002471.4(MYH6):c.2357T>A (p.Ile786Asn)
|
|
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
|
NM_002471.4(MYH6):c.3164G>A (p.Arg1055Gln)
|
rs540893860
|
|
|
NM_002471.4(MYH6):c.3252-1G>A
|
|
|
|
NM_002471.4(MYH6):c.3331A>G (p.Lys1111Glu)
|
rs1566509397
|
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
|
NM_002471.4(MYH6):c.3552G>A (p.Thr1184=)
|
|
|
|
NM_002471.4(MYH6):c.3979-10C>A
|
rs28730768
|
|
|
NM_002471.4(MYH6):c.3979-10C>G
|
rs28730768
|
|
|
NM_002471.4(MYH6):c.3979-11C>G
|
rs200618133
|
|
|
NM_002471.4(MYH6):c.3979-11_3979-9delinsG
|
rs368229372
|
|
|
NM_002471.4(MYH6):c.3979-14C>A
|
rs372226248
|
|
|
NM_002471.4(MYH6):c.3979-17_3979-16dup
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-3dup
|
rs770492637
|
|
|
NM_002471.4(MYH6):c.3979-7T>C
|
rs535111647
|
|
|
NM_002471.4(MYH6):c.3979-8C>G
|
rs555976716
|
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-9C>G
|
rs57660219
|
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsG
|
rs796876119
|
|
|
NM_002471.4(MYH6):c.3979-9_3979-8del
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.4015C>T (p.Arg1339Trp)
|
rs985894009
|
|
|
NM_002471.4(MYH6):c.4134G>A (p.Glu1378=)
|
rs1555333539
|
|
|
NM_002471.4(MYH6):c.4175+18C>A
|
rs200234758
|
|
|
NM_002471.4(MYH6):c.4265G>T (p.Arg1422Leu)
|
rs574433291
|
|
|
NM_002471.4(MYH6):c.483C>T (p.Ala161=)
|
|
|
|
NM_002471.4(MYH6):c.5476G>C (p.Gly1826Arg)
|
rs202141059
|
|
|
NM_002471.4(MYH6):c.5513C>G (p.Ser1838Trp)
|
rs747673552
|
|
|
NM_002471.4(MYH6):c.5565+5G>A
|
|
|
|
NM_002471.4(MYH6):c.5566-16del
|
rs1890917892
|
|
|
NM_002471.4(MYH6):c.5566-19dup
|
rs756566399
|
|
|
NM_002471.4(MYH6):c.5566-9C>T
|
rs758869144
|
|
|
NM_002471.4(MYH6):c.751A>G (p.Ile251Val)
|
|
|
|
NM_002471.4(MYH6):c.972T>C (p.Ile324=)
|
rs756529284
|
|
|
NM_002471.4(MYH6):c.992T>C (p.Met331Thr)
|
|
|
|
NM_002472.3(MYH8):c.3137A>C (p.Lys1046Thr)
|
|
|
|
NM_002473.6(MYH9):c.1537G>A (p.Asp513Asn)
|
|
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
|
NM_002473.6(MYH9):c.2976+9C>T
|
|
|
|
NM_002473.6(MYH9):c.4222T>C (p.Tyr1408His)
|
|
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
|
NM_002473.6(MYH9):c.4489C>T (p.Arg1497Trp)
|
|
|
|
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)
|
rs727503284
|
|
|
NM_002473.6(MYH9):c.4745A>G (p.Glu1582Gly)
|
|
|
|
NM_002474.3(MYH11):c.1074T>C (p.Asn358=)
|
rs2151282590
|
|
|
NM_002474.3(MYH11):c.1470dup (p.Met491fs)
|
rs2151274939
|
|
|
NM_002474.3(MYH11):c.1575+6G>A
|
rs2041769693
|
|
|
NM_002474.3(MYH11):c.1575+8del
|
rs769321167
|
|
|
NM_002474.3(MYH11):c.1707C>G (p.Leu569=)
|
|
|
|
NM_002474.3(MYH11):c.1764G>C (p.Ala588=)
|
rs375133214
|
|
|
NM_002474.3(MYH11):c.1791C>T (p.Asp597=)
|
rs1305382714
|
|
|
NM_002474.3(MYH11):c.1864+18C>T
|
|
|
|
NM_002474.3(MYH11):c.1929C>T (p.Ser643=)
|
rs1456500560
|
|
|
NM_002474.3(MYH11):c.2055G>A (p.Lys685=)
|
rs909578082
|
|
|
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu)
|
rs764831521
|
|
|
NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg)
|
rs1382626826
|
|
|
NM_002474.3(MYH11):c.3115C>G (p.Leu1039Val)
|
rs1223757069
|
|
|
NM_002474.3(MYH11):c.3198C>T (p.Asp1066=)
|
rs757270167
|
|
|
NM_002474.3(MYH11):c.348G>A (p.Thr116=)
|
rs781275376
|
|
|
NM_002474.3(MYH11):c.3651+5_3651+11delinsG
|
rs371843272
|
|
|
NM_002474.3(MYH11):c.3654C>G (p.Ala1218=)
|
rs1555554196
|
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
|
NM_002474.3(MYH11):c.404C>T (p.Ser135Leu)
|
rs760445629
|
|
|
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr)
|
rs775802674
|
|
|
NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter)
|
rs1055960218
|
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
|
NM_002474.3(MYH11):c.5133G>A (p.Glu1711=)
|
|
|
|
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3])
|
rs777249764
|
|
|
NM_002474.3(MYH11):c.530+20C>T
|
rs780914854
|
|
|
NM_002474.3(MYH11):c.531-19_531-17del
|
rs2042478963
|
|
|
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)
|
rs201960644
|
|
|
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile)
|
rs185904370
|
|
|
NM_002474.3(MYH11):c.555C>T (p.Thr185=)
|
rs1266756941
|
|
|
NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg)
|
rs748516947
|
|
|
NM_002474.3(MYH11):c.5786+19G>A
|
|
|
|
NM_002474.3(MYH11):c.809G>C (p.Arg270Pro)
|
|
|
|
NM_002474.3(MYH11):c.886A>G (p.Arg296Gly)
|
rs2042214133
|
|
|
NM_002474.3(MYH11):c.95C>G (p.Ala32Gly)
|
|
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
|
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser)
|
rs1554560467
|
|
|
NM_002485.5(NBN):c.101T>G (p.Leu34Arg)
|
rs1012390181
|
|
|
NM_002485.5(NBN):c.1073T>G (p.Val358Gly)
|
rs1563538793
|
|
|
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)
|
rs1563538728
|
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
|
NM_002485.5(NBN):c.1099A>G (p.Thr367Ala)
|
rs1554560363
|
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
|
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
|
|
|
|
NM_002485.5(NBN):c.1199C>T (p.Ala400Val)
|
rs779218232
|
|
|
NM_002485.5(NBN):c.1216T>G (p.Ser406Ala)
|
rs1810666368
|
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
|
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile)
|
rs786203131
|
|
|
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)
|
rs876659312
|
|
|
NM_002485.5(NBN):c.1397+4T>G
|
rs770699381
|
|
|
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly)
|
rs886063168
|
|
|
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)
|
rs587781380
|
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
|
NM_002485.5(NBN):c.1588T>G (p.Ser530Ala)
|
|
|
|
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala)
|
rs1563526265
|
|
|
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
|
rs771567358
|
|
|
NM_002485.5(NBN):c.171G>T (p.Leu57=)
|
rs1554569001
|
|
|
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr)
|
rs1563524967
|
|
|
NM_002485.5(NBN):c.1814A>T (p.Asp605Val)
|
rs1810522103
|
|
|
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)
|
rs770345026
|
|
|
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)
|
rs756036331
|
|
|
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys)
|
rs764050423
|
|
|
NM_002485.5(NBN):c.1995A>G (p.Lys665=)
|
rs1554556540
|
|
|
NM_002485.5(NBN):c.2053T>G (p.Phe685Val)
|
rs768715280
|
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
|
NM_002485.5(NBN):c.2132_2134delinsTTT (p.His711_His712delinsLeuTyr)
|
|
|
|
NM_002485.5(NBN):c.2184+6_2184+8del
|
rs1810028870
|
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
|
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr)
|
rs746479577
|
|
|
NM_002485.5(NBN):c.250C>A (p.Gln84Lys)
|
rs1586108714
|
|
|
NM_002485.5(NBN):c.267A>G (p.Arg89=)
|
rs1554568316
|
|
|
NM_002485.5(NBN):c.268A>G (p.Thr90Ala)
|
rs1554568315
|
|
|
NM_002485.5(NBN):c.280G>A (p.Gly94Arg)
|
rs1563580785
|
|
|
NM_002485.5(NBN):c.304T>C (p.Phe102Leu)
|
rs1554568285
|
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
|
NM_002485.5(NBN):c.361G>T (p.Asp121Tyr)
|
rs777916019
|
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
|
NM_002485.5(NBN):c.38-1G>A
|
rs1812140936
|
|
|
NM_002485.5(NBN):c.406G>A (p.Gly136Arg)
|
rs1554567936
|
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
|
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)
|
rs1554566728
|
|
|
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)
|
rs1563574056
|
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
|
NM_002485.5(NBN):c.637T>G (p.Ser213Ala)
|
rs1811503894
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
|
NM_002485.5(NBN):c.702+8T>C
|
rs1563561325
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
|
NM_002485.5(NBN):c.803del (p.Thr268fs)
|
|
|
|
NM_002485.5(NBN):c.804G>T (p.Thr268=)
|
rs141443872
|
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
|
NM_002485.5(NBN):c.914T>C (p.Ile305Thr)
|
rs1586076225
|
|
|
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)
|
rs587780101
|
|
|
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)
|
rs121908973
|
|
|
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
|
|
|
|
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)
|
rs121908985
|
|
|
NM_002495.4(NDUFS4):c.2T>C (p.Met1Thr)
|
rs768297131
|
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
|
NM_002495.4(NDUFS4):c.350+1G>A
|
rs1260453815
|
|
|
NM_002495.4(NDUFS4):c.424+19dup
|
rs140172554
|
|
|
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)
|
rs587776949
|
|
|
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)
|
rs1445075330
|
|
|
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)
|
rs1740730588
|
|
|
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs)
|
|
|
|
NM_002496.4(NDUFS8):c.160C>T (p.Arg54Trp)
|
|
|
|
NM_002496.4(NDUFS8):c.372+1G>A
|
|
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
|
NM_002500.5(NEUROD1):c.337C>T (p.Arg113Cys)
|
|
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
|
NM_002516.4(NOVA2):c.1211G>A (p.Ser404Asn)
|
|
|
|
NM_002516.4(NOVA2):c.241C>T (p.Arg81Trp)
|
|
|
|
NM_002524.5(NRAS):c.112-24dup
|
rs780595451
|
|
|
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)
|
rs267606921
|
|
|
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)
|
rs2101742052
|
|
|
NM_002524.5(NRAS):c.203G>C (p.Arg68Thr)
|
rs1659097707
|
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
|
NM_002524.5(NRAS):c.451-21_451-19del
|
rs754048062
|
|
|
NM_002524.5(NRAS):c.503T>A (p.Met168Lys)
|
rs1658970846
|
|
|
NM_002524.5(NRAS):c.5C>T (p.Thr2Ile)
|
rs1659160002
|
|
|
NM_002529.4(NTRK1):c.1579G>C (p.Ala527Pro)
|
|
|
|
NM_002529.4(NTRK1):c.1741del (p.Glu581fs)
|
|
|
|
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln)
|
rs1647932465
|
|
|
NM_002529.4(NTRK1):c.2140G>A (p.Gly714Ser)
|
|
|
|
NM_002529.4(NTRK1):c.758del (p.Asn253fs)
|
|
|
|
NM_002539.3(ODC1):c.661A>G (p.Met221Val)
|
|
|
|
NM_002544.5(OMG):c.151T>C (p.Ser51Pro)
|
|
|
|
NM_002547.3(OPHN1):c.1025+13G>A
|
|
|
|
NM_002578.5(PAK3):c.1520G>A (p.Arg507Gln)
|
|
|
|
NM_002598.4(PDCD2):c.101G>C (p.Arg34Pro)
|
rs1001626835
|
|
|
NM_002608.4(PDGFB):c.313G>A (p.Glu105Lys)
|
|
|
|
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
|
|
|
|
NM_002609.4(PDGFRB):c.2029A>G (p.Ile677Val)
|
|
|
|
NM_002615.7(SERPINF1):c.262GCCCTCTCG[3] (p.88ALS[3])
|
rs758551389
|
|
|
NM_002615.7(SERPINF1):c.397dup (p.Gln133fs)
|
|
|
|
NM_002615.7(SERPINF1):c.787-617G>A
|
rs2151212328
|
|
|
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
|
|
|
|
NM_002617.4(PEX10):c.203C>A (p.Thr68Asn)
|
rs2100430231
|
|
|
NM_002617.4(PEX10):c.21C>A (p.Ser7Arg)
|
rs1296095268
|
|
|
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)
|
rs724160002
|
|
|
NM_002617.4(PEX10):c.335_338del (p.Pro112fs)
|
rs2100429450
|
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
|
NM_002617.4(PEX10):c.587del (p.Thr196fs)
|
|
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
|
NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
|
|
NM_002618.4(PEX13):c.1117C>T (p.Gln373Ter)
|
|
|
|
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
|
|
|
|
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
|
|
|
|
NM_002633.3(PGM1):c.170T>C (p.Leu57Pro)
|
|
|
|
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
|
rs1570463842
|
|
|
NM_002633.3(PGM1):c.87_94del (p.Phe29fs)
|
|
|
|
NM_002637.4(PHKA1):c.1245+4A>C
|
|
|
|
NM_002637.4(PHKA1):c.2526G>A (p.Glu842=)
|
|
|
|
NM_002637.4(PHKA1):c.3244-155_3618del
|
|
|
|
NM_002637.4(PHKA1):c.3389C>T (p.Ala1130Val)
|
rs2147639170
|
|
|
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)
|
rs1256371424
|
|
|
NM_002641.4(PIGA):c.1201G>A (p.Val401Ile)
|
rs759697480
|
|
|
NM_002641.4(PIGA):c.424G>A (p.Ala142Thr)
|
rs1569179995
|
|
|
NM_002655.3(PLAG1):c.1373C>G (p.Pro458Arg)
|
|
|
|
NM_002661.5(PLCG2):c.2236-19T>G
|
rs2143686815
|
|
|
NM_002661.5(PLCG2):c.3165C>T (p.Ser1055=)
|
|
|
|
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys)
|
rs960226186
|
|
|
NM_002691.4(POLD1):c.1226G>C (p.Arg409Pro)
|
rs749611798
|
|
|
NM_002691.4(POLD1):c.1395G>A (p.Arg465=)
|
rs2038884888
|
|
|
NM_002691.4(POLD1):c.2872C>G (p.Leu958Val)
|
|
|
|
NM_002691.4(POLD1):c.2954-19C>T
|
rs1469439009
|
|
|
NM_002691.4(POLD1):c.3218+9_3218+10inv
|
|
|
|
NM_002691.4(POLD1):c.3219-24CCCTGC[3]
|
rs3219456
|
|
|
NM_002691.4(POLD1):c.3219-24CCCTGC[4]
|
rs3219456
|
|
|
NM_002691.4(POLD1):c.324G>A (p.Ala108=)
|
rs20582
|
|
|
NM_002691.4(POLD1):c.324G>T (p.Ala108=)
|
rs20582
|
|
|
NM_002691.4(POLD1):c.463+6T>G
|
rs759315897
|
|
|
NM_002691.4(POLD1):c.463+8_463+9delinsTT
|
rs796285537
|
|
|
NM_002691.4(POLD1):c.574C>G (p.Leu192Val)
|
rs374937343
|
|
|
NM_002691.4(POLD1):c.835_837del (p.Glu279del)
|
rs746341854
|
|
|
NM_002691.4(POLD1):c.898_899delinsTT (p.Pro300Leu)
|
rs1060501821
|
|
|
NM_002693.3(POLG):c.1491G>C (p.Gln497His)
|
rs121918052
|
|
|
NM_002693.3(POLG):c.1606G>T (p.Glu536Ter)
|
|
|
|
NM_002693.3(POLG):c.1716G>T (p.Trp572Cys)
|
|
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
|
NM_002693.3(POLG):c.1822G>A (p.Asp608Asn)
|
|
|
|
NM_002693.3(POLG):c.2244G>T (p.Trp748Cys)
|
|
|
|
NM_002693.3(POLG):c.2263A>C (p.Lys755Gln)
|
|
|
|
NM_002693.3(POLG):c.2308T>C (p.Phe770Leu)
|
|
|
|
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
|
|
|
|
NM_002693.3(POLG):c.235C>T (p.Leu79Phe)
|
|
|
|
NM_002693.3(POLG):c.2440G>A (p.Val814Met)
|
|
|
|
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)
|
rs778429780
|
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
|
NM_002693.3(POLG):c.2862C>G (p.Ile954Met)
|
rs2152060967
|
|
|
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)
|
rs113994099
|
|
|
NM_002693.3(POLG):c.2963CCA[3] (p.Thr989_Lys990insThr)
|
|
|
|
NM_002693.3(POLG):c.3033A>G (p.Pro1011=)
|
|
|
|
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)
|
rs201732356
|
|
|
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)
|
|
|
|
NM_002693.3(POLG):c.3356T>C (p.Leu1119Pro)
|
rs2152058721
|
|
|
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)
|
rs767138032
|
|
|
NM_002693.3(POLG):c.3483-14T>C
|
rs587781119
|
|
|
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr)
|
rs1481381913
|
|
|
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)
|
|
|
|
NM_002693.3(POLG):c.394G>C (p.Gly132Arg)
|
|
|
|
NM_002693.3(POLG):c.573G>A (p.Glu191=)
|
|
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
|
NM_002693.3(POLG):c.915C>T (p.Ser305=)
|
|
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
|
NM_002693.3(POLG):c.[1760C>T;752C>T]
|
|
|
|
NM_002709.3(PPP1CB):c.30C>T (p.Ser10=)
|
|
|
|
NM_002709.3(PPP1CB):c.744+8A>G
|
|
|
|
NM_002715.4(PPP2CA):c.102+11G>A
|
|
|
|
NM_002715.4(PPP2CA):c.312+23G>T
|
|
|
|
NM_002734.5(PRKAR1A):c.-6-4G>A
|
rs190803359
|
|
|
NM_002734.5(PRKAR1A):c.1051G>A (p.Asp351Asn)
|
|
|
|
NM_002734.5(PRKAR1A):c.1110C>A (p.Ile370=)
|
rs62638722
|
|
|
NM_002734.5(PRKAR1A):c.1133C>A (p.Ser378Ter)
|
|
|
|
NM_002734.5(PRKAR1A):c.1133C>T (p.Ser378Leu)
|
rs1568703465
|
|
|
NM_002734.5(PRKAR1A):c.387C>G (p.Ala129=)
|
rs1411849784
|
|
|
NM_002734.5(PRKAR1A):c.441-5del
|
rs777677808
|
|
|
NM_002734.5(PRKAR1A):c.441-6T>C
|
rs1340450132
|
|
|
NM_002734.5(PRKAR1A):c.465G>A (p.Ser155=)
|
rs746705941
|
|
|
NM_002734.5(PRKAR1A):c.47G>A (p.Arg16Gln)
|
rs2085401218
|
|
|
NM_002734.5(PRKAR1A):c.489T>G (p.Thr163=)
|
rs143672551
|
|
|
NM_002734.5(PRKAR1A):c.503-10C>A
|
rs1555813804
|
|
|
NM_002734.5(PRKAR1A):c.549+6A>T
|
rs780068318
|
|
|
NM_002734.5(PRKAR1A):c.550-6C>T
|
rs1555814031
|
|
|
NM_002734.5(PRKAR1A):c.567A>C (p.Glu189Asp)
|
rs767405408
|
|
|
NM_002734.5(PRKAR1A):c.647A>G (p.Lys216Arg)
|
rs1555814093
|
|
|
NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter)
|
rs281864784
|
|
|
NM_002734.5(PRKAR1A):c.770-9G>T
|
rs562094333
|
|
|
NM_002734.5(PRKAR1A):c.791G>A (p.Arg264His)
|
rs1303569195
|
|
|
NM_002734.5(PRKAR1A):c.917G>A (p.Arg306Gln)
|
rs1568702564
|
|
|
NM_002734.5(PRKAR1A):c.981T>C (p.Ile327=)
|
rs2085937729
|
|
|
NM_002739.5(PRKCG):c.-12G>T
|
|
|
|
NM_002739.5(PRKCG):c.263C>T (p.Ala88Val)
|
rs2068615098
|
|
|
NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg)
|
rs1568752939
|
|
|
NM_002739.5(PRKCG):c.518T>G (p.Ile173Ser)
|
|
|
|
NM_002739.5(PRKCG):c.687-6C>T
|
|
|
|
NM_002742.3(PRKD1):c.1270A>G (p.Met424Val)
|
|
|
|
NM_002742.3(PRKD1):c.1570G>A (p.Val524Ile)
|
|
|
|
NM_002745.5(MAPK1):c.679A>G (p.Ile227Val)
|
|
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
|
NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=)
|
rs781328871
|
|
|
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)
|
rs397516789
|
|
|
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln)
|
rs1567009054
|
|
|
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)
|
rs121908594
|
|
|
NM_002755.4(MAP2K1):c.15G>A (p.Lys5=)
|
rs2140511623
|
|
|
NM_002755.4(MAP2K1):c.291+14_291+15inv
|
|
|
|
NM_002755.4(MAP2K1):c.291+14_291+19delinsTCTCAC
|
|
|
|
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA
|
rs1064795401
|
|
|
NM_002755.4(MAP2K1):c.291+17T>C
|
rs1294983448
|
|
|
NM_002755.4(MAP2K1):c.291+18A>T
|
rs577549188
|
|
|
NM_002755.4(MAP2K1):c.291+19A>C
|
rs752759395
|
|
|
NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu)
|
rs2093343985
|
|
|
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)
|
rs397516792
|
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
|
NM_002755.4(MAP2K1):c.519A>T (p.Val173=)
|
rs1471931068
|
|
|
NM_002755.4(MAP2K1):c.546G>A (p.Glu182=)
|
rs1567012356
|
|
|
NM_002755.4(MAP2K1):c.568+6A>G
|
rs1430324310
|
|
|
NM_002755.4(MAP2K1):c.586A>G (p.Ile196Val)
|
rs2140667372
|
|
|
NM_002755.4(MAP2K1):c.612C>A (p.Ile204=)
|
rs2140667598
|
|
|
NM_002755.4(MAP2K1):c.645C>G (p.Leu215=)
|
rs2140667933
|
|
|
NM_002755.4(MAP2K1):c.794_860dup (p.Pro287_Pro288insSerArgCysGlnGlyAlaGlyAlaAspValTrpValProGlyGlyArgArgCysGlyTer)
|
rs1893005622
|
|
|
NM_002755.4(MAP2K1):c.802G>A (p.Ala268Thr)
|
rs1555420656
|
|
|
NM_002755.4(MAP2K1):c.812T>G (p.Leu271Arg)
|
rs1555420658
|
|
|
NM_002755.4(MAP2K1):c.961-61_997dup
|
rs1893152621
|
|
|
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln)
|
rs762436311
|
|
|
NM_002768.5(CHMP1A):c.160C>T (p.Arg54Cys)
|
|
|
|
NM_002768.5(CHMP1A):c.202C>T (p.Arg68Cys)
|
|
|
|
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)
|
|
|
|
NM_002768.5(CHMP1A):c.570-1G>C
|
rs2059771358
|
|
|
NM_002769.4(PRSS1):c.-28_-8del21
|
rs755789680
|
|
|
NM_002769.4(PRSS1):c.-30_-28delTCC
|
rs386134264
|
|
|
NM_002769.5(PRSS1):c.-10C>A
|
|
|
|
NM_002769.5(PRSS1):c.162C>T (p.Asn54=)
|
rs148440491
|
|
|
NM_002769.5(PRSS1):c.1A>G (p.Met1Val)
|
|
|
|
NM_002769.5(PRSS1):c.1A>T (p.Met1Leu)
|
|
|
|
NM_002769.5(PRSS1):c.200+17C>T
|
rs200688125
|
|
|
NM_002769.5(PRSS1):c.200+1G>A
|
rs143909348
|
|
|
NM_002769.5(PRSS1):c.313A>G (p.Asn105Asp)
|
|
|
|
NM_002769.5(PRSS1):c.325A>C (p.Met109Leu)
|
|
|
|
NM_002769.5(PRSS1):c.328T>C (p.Leu110=)
|
|
|
|
NM_002769.5(PRSS1):c.330A>G (p.Leu110=)
|
|
|
|
NM_002769.5(PRSS1):c.347G>A (p.Arg116His)
|
rs199769221
|
|
|
NM_002769.5(PRSS1):c.360C>T (p.Asn120=)
|
rs606231348
|
|
|
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu)
|
rs768673799
|
|
|
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
|
rs193922655
|
|
|
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)
|
rs193922656
|
|
|
NM_002769.5(PRSS1):c.40+15C>T
|
rs760370254
|
|
|
NM_002769.5(PRSS1):c.40+40del
|
rs748794481
|
|
|
NM_002769.5(PRSS1):c.41-45del
|
|
|
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
|
|
NM_002769.5(PRSS1):c.454+16A>T
|
rs377570765
|
|
|
NM_002769.5(PRSS1):c.454+3G>T
|
rs375996400
|
|
|
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
|
|
|
|
NM_002769.5(PRSS1):c.468C>T (p.Asp156=)
|
rs146076691
|
|
|
NM_002769.5(PRSS1):c.469G>C (p.Glu157Gln)
|
rs200890507
|
|
|
NM_002769.5(PRSS1):c.486T>C (p.Asp162=)
|
rs6666
|
|
|
NM_002769.5(PRSS1):c.50C>A (p.Pro17His)
|
|
|
|
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu)
|
rs776401461
|
|
|
NM_002769.5(PRSS1):c.510G>A (p.Lys170=)
|
rs750427023
|
|
|
NM_002769.5(PRSS1):c.592-4C>G
|
rs375342697
|
|
|
NM_002769.5(PRSS1):c.614T>C (p.Val205Ala)
|
rs747422004
|
|
|
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr)
|
rs1554499629
|
|
|
NM_002769.5(PRSS1):c.659G>A (p.Cys220Tyr)
|
|
|
|
NM_002769.5(PRSS1):c.694G>T (p.Val232Phe)
|
|
|
|
NM_002769.5(PRSS1):c.72C>T (p.Ile24=)
|
rs372637371
|
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
|
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)
|
rs781563777
|
|
|
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)
|
rs587776446
|
|
|
NM_002775.5(HTRA1):c.958G>A (p.Asp320Asn)
|
|
|
|
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)
|
rs121918110
|
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
|
NM_002778.4(PSAP):c.1467G>T (p.Leu489Phe)
|
|
|
|
NM_002778.4(PSAP):c.1A>G (p.Met1Val)
|
rs121918106
|
|
|
NM_002778.4(PSAP):c.589G>T (p.Val197Phe)
|
|
|
|
NM_002816.5(PSMD12):c.1104G>T (p.Lys368Asn)
|
rs1388460098
|
|
|
NM_002816.5(PSMD12):c.166A>G (p.Thr56Ala)
|
|
|
|
NM_002834.5(PTPN11):c.-13G>A
|
rs760374212
|
|
|
NM_002834.5(PTPN11):c.-7G>A
|
|
|
|
NM_002834.5(PTPN11):c.1011G>C (p.Thr337=)
|
rs371951288
|
|
|
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)
|
rs397507534
|
|
|
NM_002834.5(PTPN11):c.1089A>G (p.Gly363=)
|
rs2038535689
|
|
|
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg)
|
rs1566183223
|
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
|
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=)
|
rs753173299
|
|
|
NM_002834.5(PTPN11):c.1365C>T (p.Val455=)
|
rs1379099808
|
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
|
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)
|
rs397507537
|
|
|
NM_002834.5(PTPN11):c.1448-15_1448-13del
|
rs775920290
|
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
|
NM_002834.5(PTPN11):c.1495T>A (p.Ser499Thr)
|
rs1566186813
|
|
|
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
|
|
|
|
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg)
|
rs1173984843
|
|
|
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)
|
rs397507543
|
|
|
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)
|
rs121918458
|
|
|
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)
|
rs397507544
|
|
|
NM_002834.5(PTPN11):c.1506A>G (p.Ser502=)
|
|
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
|
NM_002834.5(PTPN11):c.1660A>G (p.Ser554Gly)
|
rs2135928795
|
|
|
NM_002834.5(PTPN11):c.1669C>A (p.Gln557Lys)
|
rs1024227490
|
|
|
NM_002834.5(PTPN11):c.1698G>A (p.Thr566=)
|
|
|
|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.172A>T (p.Asn58Tyr)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)
|
rs397507506
|
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
|
NM_002834.5(PTPN11):c.178G>C (p.Gly60Arg)
|
rs397507507
|
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
|
NM_002834.5(PTPN11):c.181G>C (p.Asp61His)
|
rs397507510
|
|
|
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.182A>T (p.Asp61Val)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
|
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)
|
rs397507511
|
|
|
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)
|
rs727503380
|
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
|
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
|
rs397507512
|
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
|
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)
|
rs121918464
|
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
|
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)
|
rs121918465
|
|
|
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)
|
rs397507514
|
|
|
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
|
rs397507514
|
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
|
NM_002834.5(PTPN11):c.318T>A (p.Asp106Glu)
|
|
|
|
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)
|
rs397507518
|
|
|
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)
|
rs397507519
|
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
|
NM_002834.5(PTPN11):c.333-19del
|
rs766492276
|
|
|
NM_002834.5(PTPN11):c.363A>G (p.Glu121=)
|
rs2135866636
|
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
|
NM_002834.5(PTPN11):c.561T>G (p.Phe187Leu)
|
rs2135869491
|
|
|
NM_002834.5(PTPN11):c.562G>A (p.Asp188Asn)
|
rs1555267939
|
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
|
NM_002834.5(PTPN11):c.624A>G (p.Thr208=)
|
rs864622409
|
|
|
NM_002834.5(PTPN11):c.643-17C>T
|
|
|
|
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala)
|
rs768555552
|
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
|
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)
|
rs397507526
|
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
|
NM_002834.5(PTPN11):c.853+4A>C
|
|
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
|
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)
|
rs121918463
|
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
|
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)
|
rs397516810
|
|
|
NM_002834.5(PTPN11):c.862A>G (p.Thr288Ala)
|
rs2135900982
|
|
|
NM_002834.5(PTPN11):c.868G>A (p.Val290Ile)
|
rs1555269782
|
|
|
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
|
|
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
|
NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg)
|
rs772684421
|
|
|
NM_002838.5(PTPRC):c.100+1del
|
rs1665977328
|
|
|
NM_002838.5(PTPRC):c.1526G>A (p.Arg509Lys)
|
rs749379347
|
|
|
NM_002838.5(PTPRC):c.1864+4_1864+7del
|
rs773117955
|
|
|
NM_002857.4(PEX19):c.152_155delinsG (p.Gln51_Lys52delinsArg)
|
rs2101805710
|
|
|
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
|
|
|
|
NM_002863.5(PYGL):c.806A>G (p.Asp269Gly)
|
rs557868018
|
|
|
NM_002875.5(RAD51):c.531-14C>T
|
|
|
|
NM_002878.4(RAD51D):c.-7G>A
|
rs553444507
|
|
|
NM_002878.4(RAD51D):c.131G>C (p.Gly44Ala)
|
rs374730714
|
|
|
NM_002878.4(RAD51D):c.137C>T (p.Ser46Phe)
|
|
|
|
NM_002878.4(RAD51D):c.14G>A (p.Arg5Lys)
|
rs2091799333
|
|
|
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp)
|
rs775268017
|
|
|
NM_002878.4(RAD51D):c.16G>C (p.Val6Leu)
|
rs368198698
|
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
|
NM_002878.4(RAD51D):c.256A>T (p.Ile86Phe)
|
rs587782063
|
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
|
NM_002878.4(RAD51D):c.283G>A (p.Ala95Thr)
|
rs1567728746
|
|
|
NM_002878.4(RAD51D):c.28C>T (p.Pro10Ser)
|
rs1555570500
|
|
|
NM_002878.4(RAD51D):c.325C>T (p.Pro109Ser)
|
rs2091620469
|
|
|
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)
|
rs786202434
|
|
|
NM_002878.4(RAD51D):c.345+4C>T
|
rs918947511
|
|
|
NM_002878.4(RAD51D):c.412A>G (p.Asn138Asp)
|
rs141690729
|
|
|
NM_002878.4(RAD51D):c.471G>C (p.Glu157Asp)
|
rs55942401
|
|
|
NM_002878.4(RAD51D):c.488C>T (p.Ala163Val)
|
rs775176916
|
|
|
NM_002878.4(RAD51D):c.577-2A>G
|
rs1555567649
|
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
|
NM_002878.4(RAD51D):c.629C>A (p.Ala210Glu)
|
rs376855484
|
|
|
NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer)
|
rs587781527
|
|
|
NM_002878.4(RAD51D):c.669C>G (p.Gly223=)
|
rs1567726315
|
|
|
NM_002878.4(RAD51D):c.748del (p.His250fs)
|
rs587780105
|
|
|
NM_002878.4(RAD51D):c.769A>G (p.Ser257Gly)
|
rs1567724999
|
|
|
NM_002878.4(RAD51D):c.806G>A (p.Ser269Asn)
|
rs876658762
|
|
|
NM_002878.4(RAD51D):c.82+5_82+13delinsT
|
rs2091796708
|
|
|
NM_002878.4(RAD51D):c.82+8_82+15del
|
rs1321571652
|
|
|
NM_002878.4(RAD51D):c.840C>T (p.Thr280=)
|
rs751885496
|
|
|
NM_002878.4(RAD51D):c.842T>C (p.Ile281Thr)
|
rs1060502957
|
|
|
NM_002878.4(RAD51D):c.879G>T (p.Ala293=)
|
rs368209468
|
|
|
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)
|
rs1060502959
|
|
|
NM_002878.4(RAD51D):c.904-12TTC[2]
|
rs779850240
|
|
|
NM_002878.4(RAD51D):c.904-2A>T
|
rs1403784434
|
|
|
NM_002880.4(RAF1):c.1108+9_1108+21del
|
rs727504451
|
|
|
NM_002880.4(RAF1):c.1144C>T (p.Pro382Ser)
|
rs1575546471
|
|
|
NM_002880.4(RAF1):c.1193+13C>T
|
|
|
|
NM_002880.4(RAF1):c.1194-17TCCCC[2]
|
rs2058496555
|
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
|
NM_002880.4(RAF1):c.1356G>A (p.Thr452=)
|
rs766112769
|
|
|
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys)
|
|
|
|
NM_002880.4(RAF1):c.1537-19C>T
|
|
|
|
NM_002880.4(RAF1):c.1613T>C (p.Leu538Ser)
|
rs730881011
|
|
|
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
|
rs5746244
|
|
|
NM_002880.4(RAF1):c.1668+10_1668+11del
|
rs730880997
|
|
|
NM_002880.4(RAF1):c.1668+19G>A
|
rs5746245
|
|
|
NM_002880.4(RAF1):c.1668+19G>T
|
rs5746245
|
|
|
NM_002880.4(RAF1):c.1673T>C (p.Ile558Thr)
|
rs1559399152
|
|
|
NM_002880.4(RAF1):c.168C>T (p.Asn56=)
|
rs1553616614
|
|
|
NM_002880.4(RAF1):c.1720_1760dup (p.Asp587_Cys588insIleArgThrAlaProLysGlnTer)
|
rs2058275378
|
|
|
NM_002880.4(RAF1):c.1724A>C (p.Lys575Thr)
|
rs767890715
|
|
|
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
|
rs80338797
|
|
|
NM_002880.4(RAF1):c.1842G>A (p.Pro614=)
|
rs200235582
|
|
|
NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser)
|
rs876657967
|
|
|
NM_002880.4(RAF1):c.207+10C>T
|
rs2059446210
|
|
|
NM_002880.4(RAF1):c.21T>C (p.Ala7=)
|
rs886057915
|
|
|
NM_002880.4(RAF1):c.321-14dup
|
rs202103447
|
|
|
NM_002880.4(RAF1):c.321-4delinsTG
|
rs2125421173
|
|
|
NM_002880.4(RAF1):c.325_327del (p.Lys109del)
|
rs1418886913
|
|
|
NM_002880.4(RAF1):c.606T>C (p.Gly202=)
|
rs754197477
|
|
|
NM_002880.4(RAF1):c.68_70del (p.Asp23del)
|
rs749549707
|
|
|
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)
|
rs397516826
|
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
|
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)
|
rs3730271
|
|
|
NM_002880.4(RAF1):c.778A>C (p.Thr260Pro)
|
rs1085307553
|
|
|
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)
|
rs869025501
|
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
|
NM_002880.4(RAF1):c.784A>C (p.Asn262His)
|
rs1575573204
|
|
|
NM_002880.4(RAF1):c.788T>A (p.Val263Asp)
|
rs397516830
|
|
|
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)
|
rs397516830
|
|
|
NM_002880.4(RAF1):c.802A>G (p.Thr268Ala)
|
rs1553613743
|
|
|
NM_002880.4(RAF1):c.837T>A (p.Asp279Glu)
|
rs2125381916
|
|
|
NM_002880.4(RAF1):c.856G>A (p.Glu286Lys)
|
rs147453956
|
|
|
NM_002880.4(RAF1):c.981A>G (p.Lys327=)
|
rs2058814646
|
|
|
NM_002880.4(RAF1):c.991-17A>G
|
|
|
|
NM_002894.3(RBBP8):c.1486del (p.Arg496fs)
|
|
|
|
NM_002905.5(RDH5):c.124C>T (p.Arg42Cys)
|
|
|
|
NM_002936.6(RNASEH1):c.510-2A>G
|
|
|
|
NM_002941.4(ROBO1):c.1832C>A (p.Ala611Glu)
|
|
|
|
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs)
|
rs1569512576
|
|
|
NM_002972.4(SBF1):c.279+3C>T
|
|
|
|
NM_002972.4(SBF1):c.2967+9C>A
|
rs115010488
|
|
|
NM_002972.4(SBF1):c.4025C>T (p.Pro1342Leu)
|
|
|
|
NM_002972.4(SBF1):c.5443A>G (p.Lys1815Glu)
|
|
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
|
NM_003000.3(SDHB):c.305_315del (p.Ala102fs)
|
|
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
|
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)
|
rs2077999823
|
|
|
NM_003000.3(SDHB):c.479_482del (p.Lys160fs)
|
rs2101521720
|
|
|
NM_003000.3(SDHB):c.541-2A>G
|
rs786201161
|
|
|
NM_003000.3(SDHB):c.541-8_541-7delinsAG
|
|
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
|
NM_003000.3(SDHB):c.642G>C (p.Gln214His)
|
rs1278834014
|
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
|
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)
|
rs786203251
|
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
|
NM_003001.5(SDHC):c.248_251del (p.Ser83fs)
|
|
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
|
NM_003002.4(SDHD):c.267_281del (p.Ala90_Ser94del)
|
rs1865690107
|
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
|
NM_003002.4(SDHD):c.57del (p.Leu20fs)
|
rs587776649
|
|
|
NM_003011.4(SET):c.664-6_664-4del
|
|
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
|
NM_003036.4(SKI):c.2167G>C (p.Ala723Pro)
|
|
|
|
NM_003036.4(SKI):c.51G>A (p.Leu17=)
|
rs763997001
|
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
|
NM_003038.5(SLC1A4):c.885dup (p.Lys296fs)
|
|
|
|
NM_003042.4(SLC6A1):c.1191+9G>C
|
rs761322748
|
|
|
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys)
|
rs1697893468
|
|
|
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs)
|
rs1221107969
|
|
|
NM_003051.4(SLC16A1):c.339C>A (p.Tyr113Ter)
|
|
|
|
NM_003051.4(SLC16A1):c.590C>G (p.Pro197Arg)
|
|
|
|
NM_003051.4(SLC16A1):c.629C>G (p.Ser210Cys)
|
|
|
|
NM_003051.4(SLC16A1):c.719_720del (p.Gln240fs)
|
|
|
|
NM_003059.3(SLC22A4):c.393+1G>A
|
|
|
|
NM_003060.4(SLC22A5):c.-78_-77delinsTA
|
rs71590771
|
|
|
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)
|
rs1554085861
|
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
|
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)
|
rs386134223
|
|
|
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)
|
rs386134225
|
|
|
NM_003060.4(SLC22A5):c.235del (p.His79fs)
|
rs377767447
|
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
|
NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)
|
|
|
|
NM_003060.4(SLC22A5):c.428C>A (p.Pro143Gln)
|
|
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
|
NM_003060.4(SLC22A5):c.47C>T (p.Pro16Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
|
NM_003060.4(SLC22A5):c.652+6=
|
rs4551059
|
|
|
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
|
|
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
|
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
|
rs201262157
|
|
|
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
|
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)
|
rs72552730
|
|
|
NM_003070.5(SMARCA2):c.1534G>A (p.Glu512Lys)
|
rs1820557172
|
|
|
NM_003070.5(SMARCA2):c.1692+3G>C
|
|
|
|
NM_003070.5(SMARCA2):c.2392T>G (p.Ser798Ala)
|
|
|
|
NM_003070.5(SMARCA2):c.2844G>T (p.Arg948Ser)
|
|
|
|
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly)
|
rs281875184
|
|
|
NM_003070.5(SMARCA2):c.4344T>G (p.Asp1448Glu)
|
|
|
|
NM_003070.5(SMARCA2):c.707_715dup (p.Gln238_Pro239insGlnGlnGln)
|
|
|
|
NM_003072.5(SMARCA4):c.2559C>A (p.Phe853Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys)
|
rs1555780047
|
|
|
NM_003073.5(SMARCB1):c.1127G>C (p.Arg376Thr)
|
|
|
|
NM_003073.5(SMARCB1):c.433G>A (p.Val145Met)
|
rs1601401880
|
|
|
NM_003073.5(SMARCB1):c.538G>T (p.Ala180Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.669T>C (p.Cys223=)
|
rs2146009569
|
|
|
NM_003073.5(SMARCB1):c.796-1G>A
|
rs2146026614
|
|
|
NM_003073.5(SMARCB1):c.986+2T>C
|
rs2030331202
|
|
|
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)
|
rs2143980805
|
|
|
NM_003079.5(SMARCE1):c.541+8A>G
|
rs1478738793
|
|
|
NM_003085.5(SNCB):c.108C>T (p.Gly36=)
|
|
|
|
NM_003098.3(SNTA1):c.*8C>T
|
rs1399933359
|
|
|
NM_003098.3(SNTA1):c.1498del (p.Arg500fs)
|
rs1568745571
|
|
|
NM_003098.3(SNTA1):c.256C>T (p.Arg86Cys)
|
|
|
|
NM_003098.3(SNTA1):c.869G>A (p.Gly290Glu)
|
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
|
NM_003104.6(SORD):c.950del (p.Asn317fs)
|
|
|
|
NM_003107.3(SOX4):c.1001C>G (p.Pro334Arg)
|
rs905546274
|
|
|
NM_003107.3(SOX4):c.1054G>A (p.Gly352Ser)
|
|
|
|
NM_003107.3(SOX4):c.1135_1137delinsGCG (p.Ser379Ala)
|
rs2113558606
|
|
|
NM_003108.4(SOX11):c.1007C>T (p.Ser336Leu)
|
|
|
|
NM_003108.4(SOX11):c.235A>C (p.Ile79Leu)
|
rs1665660680
|
|
|
NM_003108.4(SOX11):c.641G>C (p.Gly214Ala)
|
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
|
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
|
|
|
|
NM_003119.4(SPG7):c.1598C>T (p.Ala533Val)
|
|
|
|
NM_003119.4(SPG7):c.1636G>A (p.Glu546Lys)
|
|
|
|
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)
|
rs1329063851
|
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
|
NM_003119.4(SPG7):c.1931C>A (p.Thr644Asn)
|
|
|
|
NM_003119.4(SPG7):c.2051_2052delinsAC (p.Met684Asn)
|
|
|
|
NM_003119.4(SPG7):c.2052G>C (p.Met684Ile)
|
|
|
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
|
|
|
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter)
|
rs372033226
|
|
|
NM_003119.4(SPG7):c.2379del (p.Trp793fs)
|
|
|
|
NM_003119.4(SPG7):c.2T>A (p.Met1Lys)
|
rs1332265538
|
|
|
NM_003119.4(SPG7):c.376+2T>A
|
|
|
|
NM_003119.4(SPG7):c.377-12C>G
|
|
|
|
NM_003119.4(SPG7):c.698T>C (p.Leu233Pro)
|
|
|
|
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
|
|
|
|
NM_003119.4(SPG7):c.82G>A (p.Ala28Thr)
|
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
|
NM_003128.3(SPTBN1):c.2168G>A (p.Arg723Gln)
|
|
|
|
NM_003128.3(SPTBN1):c.220C>T (p.Arg74Trp)
|
|
|
|
NM_003128.3(SPTBN1):c.4166G>A (p.Cys1389Tyr)
|
|
|
|
NM_003128.3(SPTBN1):c.5304_5305del (p.Gly1769fs)
|
|
|
|
NM_003128.3(SPTBN1):c.5595G>C (p.Glu1865Asp)
|
|
|
|
NM_003128.3(SPTBN1):c.6920C>A (p.Ser2307Tyr)
|
|
|
|
NM_003128.3(SPTBN1):c.890C>G (p.Ala297Gly)
|
rs1678045192
|
|
|
NM_003172.3(SURF1):c.-70_-69del
|
rs967498500
|
|
|
NM_003172.4(SURF1):c.106+1G>C
|
rs863224926
|
|
|
NM_003172.4(SURF1):c.15T>G (p.Ala5=)
|
rs1180014887
|
|
|
NM_003172.4(SURF1):c.17C>A (p.Ala6Glu)
|
rs587727919
|
|
|
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
|
rs1433471292
|
|
|
NM_003172.4(SURF1):c.211G>T (p.Val71Leu)
|
rs147993882
|
|
|
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)
|
rs1836590782
|
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228
|
|
|
NM_003172.4(SURF1):c.367_368del (p.Arg123fs)
|
rs2119083553
|
|
|
NM_003172.4(SURF1):c.51_54+1dup
|
rs2119089032
|
|
|
NM_003172.4(SURF1):c.532_535del (p.Asn178fs)
|
rs1057517942
|
|
|
NM_003172.4(SURF1):c.534_535del (p.Asn178fs)
|
rs1242159511
|
|
|
NM_003172.4(SURF1):c.54+13TGCGGGG[5]
|
rs3041852
|
|
|
NM_003172.4(SURF1):c.55-5C>T
|
|
|
|
NM_003172.4(SURF1):c.551G>A (p.Arg184Lys)
|
|
|
|
NM_003172.4(SURF1):c.552del (p.Lys185fs)
|
rs782542152
|
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
|
NM_003172.4(SURF1):c.584G>T (p.Gly195Val)
|
|
|
|
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)
|
rs1554768333
|
|
|
NM_003172.4(SURF1):c.737T>C (p.Ile246Thr)
|
|
|
|
NM_003172.4(SURF1):c.754_755del
|
rs782007828
|
|
|
NM_003172.4(SURF1):c.758_759del (p.Thr253fs)
|
rs782349178
|
|
|
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
|
|
|
|
NM_003172.4(SURF1):c.792_793del (p.Arg264fs)
|
rs782490558
|
|
|
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup)
|
rs782161777
|
|
|
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)
|
rs782488388
|
|
|
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
|
|
|
|
NM_003172.4(SURF1):c.833+1G>A
|
rs782609482
|
|
|
NM_003172.4(SURF1):c.833+1G>C
|
rs782609482
|
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
|
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)
|
rs2119079745
|
|
|
NM_003172.4(SURF1):c.870dup (p.Lys291Ter)
|
rs782061187
|
|
|
NM_003177.7(SYK):c.1448A>G (p.Lys483Arg)
|
|
|
|
NM_003179.3(SYP):c.109G>A (p.Ala37Thr)
|
|
|
|
NM_003179.3(SYP):c.375C>T (p.Tyr125=)
|
|
|
|
NM_003179.3(SYP):c.61G>C (p.Val21Leu)
|
|
|
|
NM_003184.4(TAF2):c.2654A>G (p.Asp885Gly)
|
rs1820999112
|
|
|
NM_003185.4(TAF4):c.16G>A (p.Asp6Asn)
|
|
|
|
NM_003185.4(TAF4):c.2060C>T (p.Ser687Leu)
|
|
|
|
NM_003193.5(TBCE):c.2T>A (p.Met1Lys)
|
|
|
|
NM_003193.5(TBCE):c.924del (p.Ser308_Leu309insTer)
|
rs750781063
|
|
|
NM_003221.4(TFAP2B):c.545T>C (p.Val182Ala)
|
|
|
|
NM_003227.4(TFR2):c.1235A>T (p.Asn412Ile)
|
|
|
|
NM_003227.4(TFR2):c.2038G>T (p.Asp680Tyr)
|
rs1302587036
|
|
|
NM_003227.4(TFR2):c.2176G>A (p.Asp726Asn)
|
|
|
|
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)
|
|
|
|
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu)
|
rs114944116
|
|
|
NM_003235.5(TG):c.7006C>T (p.Arg2336Ter)
|
|
|
|
NM_003235.5(TG):c.7997G>A (p.Gly2666Glu)
|
|
|
|
NM_003238.6(TGFB2):c.1086+2T>C
|
rs1660010402
|
|
|
NM_003238.6(TGFB2):c.1129T>C (p.Ser377Pro)
|
|
|
|
NM_003238.6(TGFB2):c.1167C>G (p.Thr389=)
|
rs1660142912
|
|
|
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
|
|
|
|
NM_003238.6(TGFB2):c.346+16375G>A
|
|
|
|
NM_003238.6(TGFB2):c.355C>T (p.Pro119Ser)
|
|
|
|
NM_003238.6(TGFB2):c.387T>G (p.Ile129Met)
|
|
|
|
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
|
|
|
|
NM_003238.6(TGFB2):c.597C>G (p.Leu199=)
|
|
|
|
NM_003238.6(TGFB2):c.59G>C (p.Ser20Thr)
|
|
|
|
NM_003238.6(TGFB2):c.754+4A>G
|
|
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
|
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
|
|
|
|
NM_003238.6(TGFB2):c.933-6del
|
rs11285412
|
|
|
NM_003238.6(TGFB2):c.933-7_933-6del
|
rs11285412
|
|
|
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
|
|
|
|
NM_003239.5(TGFB3):c.1214T>C (p.Val405Ala)
|
rs774909501
|
|
|
NM_003239.5(TGFB3):c.1221G>A (p.Lys407=)
|
|
|
|
NM_003239.5(TGFB3):c.153C>T (p.Leu51=)
|
rs760506739
|
|
|
NM_003239.5(TGFB3):c.353-4C>G
|
|
|
|
NM_003239.5(TGFB3):c.441C>T (p.Phe147=)
|
rs560468476
|
|
|
NM_003239.5(TGFB3):c.876C>T (p.Gly292=)
|
|
|
|
NM_003239.5(TGFB3):c.883G>A (p.Gly295Ser)
|
|
|
|
NM_003239.5(TGFB3):c.96C>A (p.Phe32Leu)
|
rs748977151
|
|
|
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)
|
rs984098699
|
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
|
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys)
|
rs193922661
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg)
|
rs193922662
|
|
|
NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu)
|
rs104893817
|
|
|
NM_003242.6(TGFBR2):c.1340T>A (p.Val447Asp)
|
rs1575158992
|
|
|
NM_003242.6(TGFBR2):c.1397-157_1397-153del
|
rs1279882821
|
|
|
NM_003242.6(TGFBR2):c.1441C>T (p.His481Tyr)
|
rs762756916
|
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
|
NM_003242.6(TGFBR2):c.1514T>C (p.Leu505Pro)
|
rs2125452246
|
|
|
NM_003242.6(TGFBR2):c.1525-15_1576dup
|
|
|
|
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)
|
rs863223853
|
|
|
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)
|
rs193922664
|
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
|
NM_003242.6(TGFBR2):c.437A>T (p.Asn146Ile)
|
rs863223836
|
|
|
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)
|
rs727504406
|
|
|
NM_003242.6(TGFBR2):c.516C>T (p.Leu172=)
|
rs1301321642
|
|
|
NM_003242.6(TGFBR2):c.699C>A (p.Asn233Lys)
|
|
|
|
NM_003242.6(TGFBR2):c.721C>T (p.Leu241=)
|
rs2125434109
|
|
|
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=)
|
rs753781287
|
|
|
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)
|
rs863223857
|
|
|
NM_003242.6(TGFBR2):c.[1152T>A;1163A>G]
|
|
|
|
NM_003280.3(TNNC1):c.-7C>A
|
|
|
|
NM_003280.3(TNNC1):c.155C>G (p.Pro52Arg)
|
rs730881065
|
|
|
NM_003280.3(TNNC1):c.203-14C>T
|
|
|
|
NM_003280.3(TNNC1):c.285G>T (p.Glu95Asp)
|
rs2153229927
|
|
|
NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu)
|
rs143020831
|
|
|
NM_003280.3(TNNC1):c.317+6C>G
|
rs2153229925
|
|
|
NM_003280.3(TNNC1):c.454+16G>A
|
|
|
|
NM_003285.3(TNR):c.2039T>C (p.Met680Thr)
|
|
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
|
NM_003289.4(TPM2):c.773-3_773-2insCA
|
|
|
|
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys)
|
rs200769197
|
|
|
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
|
|
|
|
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
|
rs201070350
|
|
|
NM_003366.4(UQCRC2):c.729dup (p.Leu244fs)
|
|
|
|
NM_003383.5(VLDLR):c.103C>G (p.Pro35Ala)
|
rs2130778088
|
|
|
NM_003383.5(VLDLR):c.2252-2A>C
|
|
|
|
NM_003383.5(VLDLR):c.325+1G>A
|
|
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
|
NM_003384.3(VRK1):c.345del (p.Ser116fs)
|
|
|
|
NM_003401.5(XRCC4):c.25del (p.His9fs)
|
rs869320677
|
|
|
NM_003403.5(YY1):c.221_241del (p.His74_His80del)
|
|
|
|
NM_003412.4(ZIC1):c.1097T>A (p.Met366Lys)
|
rs1189648689
|
|
|
NM_003412.4(ZIC1):c.314G>C (p.Arg105Pro)
|
|
|
|
NM_003412.4(ZIC1):c.679T>C (p.Cys227Arg)
|
rs2107993157
|
|
|
NM_003470.3(USP7):c.1838T>C (p.Met613Thr)
|
|
|
|
NM_003470.3(USP7):c.987+14del
|
|
|
|
NM_003476.5(CSRP3):c.118T>G (p.Cys40Gly)
|
|
|
|
NM_003476.5(CSRP3):c.509-20C>T
|
|
|
|
NM_003477.3(PDHX):c.1432G>C (p.Val478Leu)
|
|
|
|
NM_003477.3(PDHX):c.250G>A (p.Val84Met)
|
|
|
|
NM_003477.3(PDHX):c.28G>T (p.Asp10Tyr)
|
rs2133931933
|
|
|
NM_003477.3(PDHX):c.474G>T (p.Glu158Asp)
|
rs148723565
|
|
|
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs)
|
|
|
|
NM_003480.4(MFAP5):c.136C>T (p.Pro46Ser)
|
|
|
|
NM_003480.4(MFAP5):c.139+15_139+19del
|
rs71042401
|
|
|
NM_003480.4(MFAP5):c.248-18del
|
rs3841565
|
|
|
NM_003480.4(MFAP5):c.59-1G>C
|
|
|
|
NM_003482.4(KMT2D):c.1099C>T (p.Pro367Ser)
|
|
|
|
NM_003482.4(KMT2D):c.12349G>A (p.Gly4117Arg)
|
|
|
|
NM_003482.4(KMT2D):c.12366A>G (p.Gly4122=)
|
|
|
|
NM_003482.4(KMT2D):c.12737C>T (p.Pro4246Leu)
|
|
|
|
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)
|
rs398123721
|
|
|
NM_003482.4(KMT2D):c.1638C>T (p.Ser546=)
|
|
|
|
NM_003482.4(KMT2D):c.3086A>G (p.Gln1029Arg)
|
|
|
|
NM_003482.4(KMT2D):c.3317C>G (p.Pro1106Arg)
|
|
|
|
NM_003482.4(KMT2D):c.3412G>A (p.Gly1138Arg)
|
|
|
|
NM_003482.4(KMT2D):c.4901C>T (p.Ala1634Val)
|
|
|
|
NM_003482.4(KMT2D):c.5441G>A (p.Arg1814Lys)
|
|
|
|
NM_003482.4(KMT2D):c.6457C>T (p.Pro2153Ser)
|
|
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
|
NM_003482.4(KMT2D):c.7445G>C (p.Gly2482Ala)
|
|
|
|
NM_003489.4(NRIP1):c.3465_3468del (p.Lys1155fs)
|
|
|
|
NM_003491.4(NAA10):c.287G>A (p.Arg96Gln)
|
|
|
|
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)
|
rs34391522
|
|
|
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg)
|
rs1569263730
|
|
|
NM_003560.4(PLA2G6):c.1258G>A (p.Gly420Arg)
|
|
|
|
NM_003560.4(PLA2G6):c.1288C>T (p.Pro430Ser)
|
|
|
|
NM_003560.4(PLA2G6):c.1294del (p.His432fs)
|
|
|
|
NM_003560.4(PLA2G6):c.1427+1G>C
|
rs750939090
|
|
|
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)
|
rs1555988382
|
|
|
NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu)
|
|
|
|
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
|
|
|
|
NM_003560.4(PLA2G6):c.1630A>C (p.Met544Leu)
|
|
|
|
NM_003560.4(PLA2G6):c.1743-2A>G
|
|
|
|
NM_003560.4(PLA2G6):c.2159C>T (p.Thr720Ile)
|
|
|
|
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
|
|
|
|
NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys)
|
rs995653548
|
|
|
NM_003560.4(PLA2G6):c.419TCA[1] (p.Ile141del)
|
|
|
|
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)
|
rs776753796
|
|
|
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro)
|
rs2145803751
|
|
|
NM_003560.4(PLA2G6):c.692G>T (p.Gly231Val)
|
|
|
|
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)
|
rs587784360
|
|
|
NM_003560.4(PLA2G6):c.920G>A (p.Gly307Asp)
|
|
|
|
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)
|
rs797045889
|
|
|
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)
|
rs199935023
|
|
|
NM_003590.5(CUL3):c.1377+1G>A
|
|
|
|
NM_003597.5(KLF11):c.1070A>G (p.Asn357Ser)
|
|
|
|
NM_003611.3(OFD1):c.2119C>T (p.Leu707Phe)
|
|
|
|
NM_003611.3(OFD1):c.2261-6C>T
|
|
|
|
NM_003611.3(OFD1):c.2758-2A>T
|
|
|
|
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs)
|
rs752784904
|
|
|
NM_003619.4(PRSS12):c.1843C>T (p.Leu615Phe)
|
|
|
|
NM_003619.4(PRSS12):c.1888C>T (p.Arg630Trp)
|
|
|
|
NM_003619.4(PRSS12):c.1917-1G>C
|
|
|
|
NM_003619.4(PRSS12):c.2116G>T (p.Glu706Ter)
|
|
|
|
NM_003619.4(PRSS12):c.450C>A (p.Phe150Leu)
|
|
|
|
NM_003619.4(PRSS12):c.718C>T (p.Arg240Ter)
|
|
|
|
NM_003620.4(PPM1D):c.1379A>C (p.Asn460Thr)
|
|
|
|
NM_003620.4(PPM1D):c.472+18T>C
|
|
|
|
NM_003622.4(PPFIBP1):c.358-2_358-1delinsCC
|
|
|
|
NM_003630.3(PEX3):c.331+1G>C
|
|
|
|
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
|
|
|
|
NM_003632.3(CNTNAP1):c.1457-6C>T
|
|
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
|
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
|
|
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
|
NM_003640.5(ELP1):c.2528A>G (p.His843Arg)
|
rs1828577961
|
|
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712
|
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
|
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)
|
rs906880093
|
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644
|
|
|
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)
|
rs1829561209
|
|
|
NM_003640.5(ELP1):c.575_579delinsGG (p.Asp192_Asp193delinsGly)
|
|
|
|
NM_003640.5(ELP1):c.740+1G>T
|
|
|
|
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
|
|
|
|
NM_003640.5(ELP1):c.954_958+7del
|
rs2132025021
|
|
|
NM_003647.3(DGKE):c.233C>G (p.Ala78Gly)
|
rs775804689
|
|
|
NM_003647.3(DGKE):c.41A>G (p.Glu14Gly)
|
|
|
|
NM_003647.3(DGKE):c.579A>C (p.Thr193=)
|
rs3760158
|
|
|
NM_003647.3(DGKE):c.610del (p.Thr204fs)
|
rs147972030
|
|
|
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)
|
|
|
|
NM_003659.4(AGPS):c.1697+2T>C
|
rs2105726638
|
|
|
NM_003659.4(AGPS):c.49_54dup (p.Ala17_Ser18dup)
|
rs771730798
|
|
|
NM_003659.4(AGPS):c.709+4G>C
|
|
|
|
NM_003659.4(AGPS):c.71A>T (p.Asp24Val)
|
rs2105576037
|
|
|
NM_003659.4(AGPS):c.77A>T (p.Asp26Val)
|
rs2105576052
|
|
|
NM_003659.4(AGPS):c.89A>T (p.Asp30Val)
|
rs1685058706
|
|
|
NM_003664.5(AP3B1):c.1650+12del
|
rs563512609
|
|
|
NM_003664.5(AP3B1):c.1651-2A>T
|
|
|
|
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
|
|
|
|
NM_003664.5(AP3B1):c.1928C>T (p.Ala643Val)
|
|
|
|
NM_003664.5(AP3B1):c.2890T>G (p.Leu964Val)
|
rs750377910
|
|
|
NM_003664.5(AP3B1):c.2968_2969delinsTT (p.Glu990Leu)
|
rs2112065832
|
|
|
NM_003664.5(AP3B1):c.3090del (p.Asn1031fs)
|
|
|
|
NM_003664.5(AP3B1):c.751T>C (p.Tyr251His)
|
|
|
|
NM_003673.4(TCAP):c.111-11C>T
|
|
|
|
NM_003673.4(TCAP):c.184C>T (p.Gln62Ter)
|
|
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
|
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg)
|
rs1355624192
|
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
|
NM_003673.4(TCAP):c.428T>C (p.Val143Ala)
|
rs2145074575
|
|
|
NM_003701.4(TNFSF11):c.350G>A (p.Arg117Lys)
|
rs2137867049
|
|
|
NM_003718.5(CDK13):c.1148C>T (p.Ser383Phe)
|
|
|
|
NM_003718.5(CDK13):c.1702A>C (p.Ser568Arg)
|
|
|
|
NM_003718.5(CDK13):c.2209C>T (p.Arg737Cys)
|
rs1064796451
|
|
|
NM_003718.5(CDK13):c.2544-16G>A
|
|
|
|
NM_003718.5(CDK13):c.2912C>T (p.Ala971Val)
|
rs751856305
|
|
|
NM_003718.5(CDK13):c.3092T>C (p.Met1031Thr)
|
|
|
|
NM_003718.5(CDK13):c.4303G>A (p.Ala1435Thr)
|
|
|
|
NM_003718.5(CDK13):c.930C>G (p.Tyr310Ter)
|
|
|
|
NM_003719.5(PDE8B):c.129C>T (p.Leu43=)
|
|
|
|
NM_003719.5(PDE8B):c.2129+17C>T
|
|
|
|
NM_003719.5(PDE8B):c.671C>T (p.Ala224Val)
|
|
|
|
NM_003722.5(TP63):c.587C>G (p.Thr196Ser)
|
|
|
|
NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del)
|
|
|
|
NM_003737.4(DCHS1):c.22G>C (p.Val8Leu)
|
|
|
|
NM_003737.4(DCHS1):c.8308C>T (p.Arg2770Ter)
|
|
|
|
NM_003738.5(PTCH2):c.2900_2917dup (p.Leu972_Val973insAlaValCysIleLeuLeu)
|
|
|
|
NM_003742.4(ABCB11):c.1145C>G (p.Ala382Gly)
|
|
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
|
NM_003742.4(ABCB11):c.1213T>C (p.Cys405Arg)
|
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
|
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
|
|
|
|
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)
|
rs886043807
|
|
|
NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter)
|
|
|
|
NM_003742.4(ABCB11):c.2075+2T>C
|
rs1574445178
|
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
|
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)
|
rs1559183717
|
|
|
NM_003742.4(ABCB11):c.335T>C (p.Ile112Thr)
|
|
|
|
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
|
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
|
|
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)
|
rs1418620415
|
|
|
NM_003745.2(SOCS1):c.139G>A (p.Ala47Thr)
|
|
|
|
NM_003748.4(ALDH4A1):c.1460+15C>T
|
rs371777923
|
|
|
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
|
|
|
|
NM_003748.4(ALDH4A1):c.1567del (p.Ala523fs)
|
|
|
|
NM_003754.3(EIF3F):c.523del (p.Thr175fs)
|
|
|
|
NM_003764.4(STX11):c.247A>G (p.Lys83Glu)
|
|
|
|
NM_003764.4(STX11):c.822del (p.Cys275fs)
|
|
|
|
NM_003793.4(CTSF):c.105_129del (p.Ser36fs)
|
|
|
|
NM_003793.4(CTSF):c.1119dup (p.Lys374fs)
|
|
|
|
NM_003793.4(CTSF):c.130del (p.Arg44fs)
|
rs1857984449
|
|
|
NM_003793.4(CTSF):c.167_186del (p.Ala56fs)
|
|
|
|
NM_003793.4(CTSF):c.264del (p.Cys89fs)
|
|
|
|
NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs)
|
rs2134951897
|
|
|
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
|
|
|
|
NM_003846.3(PEX11B):c.544G>A (p.Gly182Ser)
|
rs1559221717
|
|
|
NM_003859.3(DPM1):c.1A>G (p.Met1Val)
|
rs139624629
|
|
|
NM_003863.4(DPM2):c.139del (p.Arg47fs)
|
rs1831509811
|
|
|
NM_003865.3(HESX1):c.-7C>A
|
|
|
|
NM_003895.4(SYNJ1):c.-5G>T
|
|
|
|
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter)
|
rs200541102
|
|
|
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
|
|
|
|
NM_003906.5(MCM3AP):c.704_708del (p.Lys235fs)
|
|
|
|
NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)
|
|
|
|
NM_003907.3(EIF2B5):c.1543T>G (p.Trp515Gly)
|
|
|
|
NM_003907.3(EIF2B5):c.1930G>T (p.Glu644Ter)
|
|
|
|
NM_003907.3(EIF2B5):c.2059C>T (p.Gln687Ter)
|
|
|
|
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)
|
rs113994060
|
|
|
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)
|
rs200143780
|
|
|
NM_003919.3(SGCE):c.109+1G>A
|
rs1808615750
|
|
|
NM_003919.3(SGCE):c.464-10C>G
|
|
|
|
NM_003919.3(SGCE):c.639dup (p.Pro214fs)
|
|
|
|
NM_003920.5(TIMELESS):c.1413T>G (p.Asn471Lys)
|
|
|
|
NM_003922.4(HERC1):c.125T>C (p.Val42Ala)
|
|
|
|
NM_003922.4(HERC1):c.8981_9024delinsTTCAATCAGCACATGAAGAGAAACCATCCAGGCTGTGGGCG (p.His2994_Arg3008delinsLeuGlnSerAlaHisGluGluLysProSerArgLeuTrpAla)
|
|
|
|
NM_003923.3(FOXH1):c.584G>T (p.Gly195Val)
|
|
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
|
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)
|
rs17879189
|
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
|
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)
|
rs1562159562
|
|
|
NM_003931.3(WASF1):c.493dup (p.Met165fs)
|
|
|
|
NM_003931.3(WASF1):c.540+16A>T
|
|
|
|
NM_003937.3(KYNU):c.735T>G (p.Cys245Trp)
|
|
|
|
NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter)
|
rs771254387
|
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
|
NM_003982.4(SLC7A7):c.1533_1536del (p.Asn511fs)
|
|
|
|
NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu)
|
rs386833820
|
|
|
NM_003982.4(SLC7A7):c.625+18T>C
|
rs974421997
|
|
|
NM_003982.4(SLC7A7):c.737A>G (p.Asn246Ser)
|
|
|
|
NM_003995.4(NPR2):c.1779C>A (p.Cys593Ter)
|
|
|
|
NM_003995.4(NPR2):c.2316C>G (p.Asp772Glu)
|
|
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
|
NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)
|
|
|
|
NM_003999.3(OSMR):c.1286-3C>T
|
|
|
|
NM_003999.3(OSMR):c.1927C>G (p.Leu643Val)
|
|
|
|
NM_004004.5(GJB2):c.[79G>A;341A>G]
|
|
|
|
NM_004004.6(GJB2):c.-112A>C
|
rs1555342240
|
|
|
NM_004004.6(GJB2):c.-12C>T
|
rs1959064381
|
|
|
NM_004004.6(GJB2):c.-169C>G
|
|
|
|
NM_004004.6(GJB2):c.-170C>G
|
rs1006263046
|
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
|
NM_004004.6(GJB2):c.-47C>G
|
rs1555342239
|
|
|
NM_004004.6(GJB2):c.-90A>G
|
|
|
|
NM_004004.6(GJB2):c.100A>T (p.Met34Leu)
|
rs564084861
|
|
|
NM_004004.6(GJB2):c.111_113del (p.Val38del)
|
rs1959062436
|
|
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
|
|
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg)
|
rs104894410
|
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
|
NM_004004.6(GJB2):c.191G>A (p.Cys64Tyr)
|
|
|
|
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
|
|
|
|
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr)
|
rs1959060919
|
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
|
NM_004004.6(GJB2):c.239A>G (p.Gln80Arg)
|
|
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
|
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)
|
rs104894409
|
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
|
NM_004004.6(GJB2):c.280C>T (p.His94Tyr)
|
rs1593351383
|
|
|
NM_004004.6(GJB2):c.282C>T (p.His94=)
|
rs766998544
|
|
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
|
|
NM_004004.6(GJB2):c.302AGA[2] (p.Lys103del)
|
rs1555341934
|
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
|
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)
|
rs1801002
|
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
|
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr)
|
rs1959058587
|
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
|
NM_004004.6(GJB2):c.458T>C (p.Val153Ala)
|
|
|
|
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)
|
rs373684994
|
|
|
NM_004004.6(GJB2):c.475G>T (p.Asp159Tyr)
|
|
|
|
NM_004004.6(GJB2):c.51C>T (p.Ser17=)
|
rs1959063254
|
|
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
|
NM_004004.6(GJB2):c.557C>A (p.Thr186Lys)
|
|
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
|
|
NM_004004.6(GJB2):c.645T>C (p.Ile215=)
|
rs750216973
|
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
|
NM_004004.6(GJB2):c.69C>T (p.Ile23=)
|
|
|
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
|
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)
|
rs111033401
|
|
|
NM_004006.2:c.(1992+1_1993-1)_(4233+1_4234-1)[3]
|
|
|
|
NM_004006.2:c.(6438+1_6439-1)_(6614+1_6615-1)del
|
|
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
|
NM_004006.3(DMD):c.-164_-132del
|
|
|
|
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
|
|
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
|
NM_004006.3(DMD):c.10224-2_10233delinsTG
|
rs2148280427
|
|
|
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
|
rs376745644
|
|
|
NM_004006.3(DMD):c.10728_10731inv (p.Met3576_Gln3577delinsIleCys)
|
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
|
NM_004006.3(DMD):c.1267C>T (p.Gln423Ter)
|
rs2146819649
|
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
|
NM_004006.3(DMD):c.1713dup (p.Ser572Ter)
|
rs1601808932
|
|
|
NM_004006.3(DMD):c.1869C>T (p.Leu623=)
|
rs1800267
|
|
|
NM_004006.3(DMD):c.187-10_187-6del
|
rs1557079581
|
|
|
NM_004006.3(DMD):c.1956del (p.Asp652fs)
|
rs886043640
|
|
|
NM_004006.3(DMD):c.2168+2T>C
|
|
|
|
NM_004006.3(DMD):c.2381A>G (p.Glu794Gly)
|
|
|
|
NM_004006.3(DMD):c.2512C>T (p.Gln838Ter)
|
rs886042351
|
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
|
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn)
|
rs2148630194
|
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
|
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)
|
rs1060502639
|
|
|
NM_004006.3(DMD):c.2804-2A>C
|
rs794727357
|
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
|
NM_004006.3(DMD):c.3037G>T (p.Glu1013Ter)
|
|
|
|
NM_004006.3(DMD):c.31+8C>T
|
|
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
|
NM_004006.3(DMD):c.3891C>A (p.Gly1297=)
|
rs758317261
|
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
|
NM_004006.3(DMD):c.3929A>C (p.Glu1310Ala)
|
rs2148194722
|
|
|
NM_004006.3(DMD):c.3939_3940delinsCT (p.Met1313_Arg1314delinsIleTer)
|
|
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
|
NM_004006.3(DMD):c.4296G>C (p.Gln1432His)
|
rs747262903
|
|
|
NM_004006.3(DMD):c.4351_4352insA (p.Leu1451fs)
|
rs2097987198
|
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
|
NM_004006.3(DMD):c.4500del (p.Gln1501fs)
|
rs398123959
|
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
|
NM_004006.3(DMD):c.4846-1G>C
|
rs1603631757
|
|
|
NM_004006.3(DMD):c.4942T>C (p.Leu1648=)
|
rs138472027
|
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
|
NM_004006.3(DMD):c.5008_5025+7del
|
|
|
|
NM_004006.3(DMD):c.5068_5070del (p.His1690del)
|
rs761764494
|
|
|
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs)
|
rs2147253222
|
|
|
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala)
|
rs2097842153
|
|
|
NM_004006.3(DMD):c.5428G>T (p.Glu1810Ter)
|
|
|
|
NM_004006.3(DMD):c.5448+1G>T
|
rs1064796764
|
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
|
NM_004006.3(DMD):c.549del (p.Asp182_Trp183insTer)
|
|
|
|
NM_004006.3(DMD):c.5771_5772del (p.Glu1924fs)
|
|
|
|
NM_004006.3(DMD):c.5884A>C (p.Lys1962Gln)
|
rs2097746777
|
|
|
NM_004006.3(DMD):c.5922+3G>C
|
rs398124000
|
|
|
NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter)
|
rs1557218131
|
|
|
NM_004006.3(DMD):c.6474del (p.Val2159fs)
|
rs2095370524
|
|
|
NM_004006.3(DMD):c.6652A>G (p.Arg2218Gly)
|
rs2094863769
|
|
|
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter)
|
rs2094828872
|
|
|
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)
|
rs770183212
|
|
|
NM_004006.3(DMD):c.7395del (p.Met2466fs)
|
rs2149245252
|
|
|
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)
|
rs1569186252
|
|
|
NM_004006.3(DMD):c.8027+19C>A
|
rs1202693482
|
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
|
NM_004006.3(DMD):c.832-18_832-17delinsGA
|
rs2063783358
|
|
|
NM_004006.3(DMD):c.8333G>A (p.Arg2778His)
|
rs2071050854
|
|
|
NM_004006.3(DMD):c.8391-305A>T
|
|
|
|
NM_004006.3(DMD):c.8582T>A (p.Val2861Glu)
|
|
|
|
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
|
rs2068038543
|
|
|
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
|
|
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
|
NM_004006.3(DMD):c.9137G>A (p.Gly3046Asp)
|
rs2148491931
|
|
|
NM_004006.3(DMD):c.9184del (p.Glu3062fs)
|
rs2148297268
|
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
|
NM_004006.3(DMD):c.9461T>A (p.Leu3154Ter)
|
rs2044442536
|
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
|
NM_004017.3(DMD):c.1019+700_1019+704del
|
rs2148280593
|
|
|
NM_004035.7(ACOX1):c.1789A>C (p.Thr597Pro)
|
rs2144232768
|
|
|
NM_004035.7(ACOX1):c.269+4774_269+4787del
|
|
|
|
NM_004044.7(ATIC):c.688+3A>G
|
|
|
|
NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr)
|
rs1805152
|
|
|
NM_004082.5(DCTN1):c.358+17_358+18insGA
|
rs2103719288
|
|
|
NM_004086.3(COCH):c.73G>C (p.Glu25Gln)
|
|
|
|
NM_004086.3(COCH):c.83-17A>G
|
|
|
|
NM_004093.4(EFNB2):c.219T>G (p.Tyr73Ter)
|
rs1879182475
|
|
|
NM_004100.5(EYA4):c.*6T>G
|
rs1554276908
|
|
|
NM_004100.5(EYA4):c.103C>G (p.Leu35Val)
|
rs35562371
|
|
|
NM_004100.5(EYA4):c.1816GAA[2] (p.Glu608del)
|
rs763110500
|
|
|
NM_004100.5(EYA4):c.315C>T (p.Ser105=)
|
|
|
|
NM_004100.5(EYA4):c.438-6A>T
|
rs1794468804
|
|
|
NM_004100.5(EYA4):c.580+14_580+16del
|
rs139659489
|
|
|
NM_004100.5(EYA4):c.806A>T (p.Asp269Val)
|
rs1562457061
|
|
|
NM_004100.5(EYA4):c.925A>G (p.Thr309Ala)
|
rs556335059
|
|
|
NM_004104.5(FASN):c.5600_5602del (p.Gly1867del)
|
rs746627809
|
|
|
NM_004114.5(FGF13):c.-146508G>A
|
|
|
|
NM_004114.5(FGF13):c.694G>A (p.Val232Met)
|
|
|
|
NM_004115.4(FGF14):c.408+1G>A
|
|
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
|
NM_004130.4(GYG1):c.7+2T>C
|
|
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
|
NM_004171.4(SLC1A2):c.1084G>A (p.Ala362Thr)
|
|
|
|
NM_004171.4(SLC1A2):c.1095T>C (p.Ala365=)
|
|
|
|
NM_004171.4(SLC1A2):c.508G>A (p.Asp170Asn)
|
|
|
|
NM_004172.5(SLC1A3):c.1290-15T>C
|
|
|
|
NM_004181.5(UCHL1):c.341T>A (p.Leu114Gln)
|
|
|
|
NM_004183.4(BEST1):c.811C>A (p.Leu271Ile)
|
rs1308281595
|
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
|
NM_004187.5(KDM5C):c.1951A>G (p.Met651Val)
|
|
|
|
NM_004187.5(KDM5C):c.2368+11G>A
|
|
|
|
NM_004187.5(KDM5C):c.2663G>T (p.Arg888Leu)
|
rs375850872
|
|
|
NM_004187.5(KDM5C):c.3120+4A>C
|
|
|
|
NM_004187.5(KDM5C):c.805C>G (p.Pro269Ala)
|
|
|
|
NM_004187.5(KDM5C):c.964-15C>T
|
|
|
|
NM_004208.4(AIFM1):c.680T>C (p.Val227Ala)
|
|
|
|
NM_004247.4(EFTUD2):c.1085C>G (p.Thr362Ser)
|
|
|
|
NM_004247.4(EFTUD2):c.1652T>C (p.Leu551Pro)
|
rs2145461077
|
|
|
NM_004247.4(EFTUD2):c.595C>T (p.Leu199Phe)
|
|
|
|
NM_004260.4(RECQL4):c.1089C>A (p.Tyr363Ter)
|
rs377589237
|
|
|
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)
|
rs1060501383
|
|
|
NM_004260.4(RECQL4):c.2585C>A (p.Ser862Ter)
|
|
|
|
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn)
|
rs372648595
|
|
|
NM_004268.5(MED17):c.325A>C (p.Met109Leu)
|
rs144529403
|
|
|
NM_004268.5(MED17):c.774+3A>G
|
|
|
|
NM_004273.5(CHST3):c.591G>A (p.Leu197=)
|
|
|
|
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala)
|
rs1345725468
|
|
|
NM_004281.4(BAG3):c.1135G>A (p.Gly379Ser)
|
rs886951707
|
|
|
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn)
|
rs878854652
|
|
|
NM_004281.4(BAG3):c.1496T>A (p.Ile499Asn)
|
|
|
|
NM_004281.4(BAG3):c.206C>T (p.Pro69Leu)
|
|
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
|
NM_004281.4(BAG3):c.533A>G (p.Asp178Gly)
|
|
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
|
NM_004304.5(ALK):c.266G>T (p.Gly89Val)
|
|
|
|
NM_004304.5(ALK):c.3091C>T (p.Leu1031=)
|
rs755537480
|
|
|
NM_004304.5(ALK):c.3120G>A (p.Val1040=)
|
rs1553394893
|
|
|
NM_004304.5(ALK):c.3600G>C (p.Ala1200=)
|
rs56247462
|
|
|
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)
|
rs138827116
|
|
|
NM_004304.5(ALK):c.702T>A (p.Pro234=)
|
rs2246745
|
|
|
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)
|
rs781508063
|
|
|
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn)
|
rs1060503397
|
|
|
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=)
|
rs863224394
|
|
|
NM_004329.3(BMPR1A):c.1102A>G (p.Ile368Val)
|
rs1589291789
|
|
|
NM_004329.3(BMPR1A):c.1119T>C (p.Asn373=)
|
rs1224219121
|
|
|
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=)
|
rs757333646
|
|
|
NM_004329.3(BMPR1A):c.1190C>G (p.Pro397Arg)
|
rs878854662
|
|
|
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)
|
rs1131691181
|
|
|
NM_004329.3(BMPR1A):c.1245A>C (p.Glu415Asp)
|
rs786204235
|
|
|
NM_004329.3(BMPR1A):c.1251G>A (p.Leu417=)
|
rs1554891336
|
|
|
NM_004329.3(BMPR1A):c.1280T>C (p.Met427Thr)
|
rs1843667096
|
|
|
NM_004329.3(BMPR1A):c.1281G>A (p.Met427Ile)
|
rs769212314
|
|
|
NM_004329.3(BMPR1A):c.1376A>G (p.Asn459Ser)
|
rs1564725605
|
|
|
NM_004329.3(BMPR1A):c.1380G>C (p.Met460Ile)
|
rs1206243685
|
|
|
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)
|
rs876658515
|
|
|
NM_004329.3(BMPR1A):c.1457G>A (p.Arg486Gln)
|
rs752802257
|
|
|
NM_004329.3(BMPR1A):c.1587T>A (p.Asp529Glu)
|
rs864622175
|
|
|
NM_004329.3(BMPR1A):c.195G>C (p.Gly65=)
|
rs765437517
|
|
|
NM_004329.3(BMPR1A):c.20A>G (p.Tyr7Cys)
|
|
|
|
NM_004329.3(BMPR1A):c.231-10dup
|
rs747206781
|
|
|
NM_004329.3(BMPR1A):c.231-9C>T
|
rs763313220
|
|
|
NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr)
|
rs953797046
|
|
|
NM_004329.3(BMPR1A):c.352C>T (p.Leu118=)
|
rs587782418
|
|
|
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His)
|
rs1554888965
|
|
|
NM_004329.3(BMPR1A):c.430+10C>T
|
rs863224395
|
|
|
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)
|
rs778886055
|
|
|
NM_004329.3(BMPR1A):c.530+7A>G
|
rs1060504908
|
|
|
NM_004329.3(BMPR1A):c.563G>T (p.Arg188Leu)
|
rs749780872
|
|
|
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)
|
rs587782682
|
|
|
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)
|
rs369012159
|
|
|
NM_004329.3(BMPR1A):c.771A>T (p.Lys257Asn)
|
|
|
|
NM_004329.3(BMPR1A):c.776C>T (p.Ala259Val)
|
rs905457708
|
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
|
NM_004329.3(BMPR1A):c.968G>A (p.Cys323Tyr)
|
rs187780646
|
|
|
NM_004329.3(BMPR1A):c.969_970insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTTCAGACGTGTGCTCTTCCGATCT (p.Cys323_Ala324insArgSerGluGluArgArgValGlyLysGluPheArgArgValLeuPheArgSer)
|
|
|
|
NM_004329.3(BMPR1A):c.986G>A (p.Arg329Lys)
|
rs1554891054
|
|
|
NM_004333.6(BRAF):c.1002G>A (p.Pro334=)
|
|
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
|
NM_004333.6(BRAF):c.1120A>G (p.Ile374Val)
|
rs397507471
|
|
|
NM_004333.6(BRAF):c.1151G>A (p.Arg384Lys)
|
|
|
|
NM_004333.6(BRAF):c.1189G>A (p.Gly397Ser)
|
|
|
|
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
|
rs199927105
|
|
|
NM_004333.6(BRAF):c.1206C>T (p.Pro402=)
|
rs201758035
|
|
|
NM_004333.6(BRAF):c.121C>T (p.Pro41Ser)
|
|
|
|
NM_004333.6(BRAF):c.1245C>T (p.Ala415=)
|
|
|
|
NM_004333.6(BRAF):c.1253A>G (p.Lys418Arg)
|
|
|
|
NM_004333.6(BRAF):c.1256C>T (p.Ser419Phe)
|
rs2129026318
|
|
|
NM_004333.6(BRAF):c.1327_1388dup (p.Gly464fs)
|
rs1800883856
|
|
|
NM_004333.6(BRAF):c.139-16T>C
|
rs1809013029
|
|
|
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)
|
rs121913357
|
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
|
NM_004333.6(BRAF):c.1432+17_1432+19del
|
rs777363183
|
|
|
NM_004333.6(BRAF):c.1441G>A (p.Ala481Thr)
|
|
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
|
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
|
rs180177036
|
|
|
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)
|
rs180177036
|
|
|
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)
|
rs180177037
|
|
|
NM_004333.6(BRAF):c.1518-7T>G
|
rs199745091
|
|
|
NM_004333.6(BRAF):c.159G>A (p.Met53Ile)
|
rs2129073763
|
|
|
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)
|
rs180177040
|
|
|
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)
|
rs794729219
|
|
|
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)
|
rs121913341
|
|
|
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)
|
rs121913369
|
|
|
NM_004333.6(BRAF):c.1861-5A>G
|
rs2128994669
|
|
|
NM_004333.6(BRAF):c.1889A>G (p.Lys630Arg)
|
rs1797604920
|
|
|
NM_004333.6(BRAF):c.1992+16G>A
|
rs3789806
|
|
|
NM_004333.6(BRAF):c.1992+16G>C
|
rs3789806
|
|
|
NM_004333.6(BRAF):c.2045G>A (p.Arg682Gln)
|
rs1796764011
|
|
|
NM_004333.6(BRAF):c.2064C>T (p.Ala688=)
|
rs1554389847
|
|
|
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala)
|
rs1554412417
|
|
|
NM_004333.6(BRAF):c.20G>A (p.Gly7Asp)
|
|
|
|
NM_004333.6(BRAF):c.2128-16C>T
|
rs368721021
|
|
|
NM_004333.6(BRAF):c.2128-16_2128-15delinsTC
|
rs2130870208
|
|
|
NM_004333.6(BRAF):c.2128-16_2128-6del
|
rs749903414
|
|
|
NM_004333.6(BRAF):c.2128-16_2128-7del
|
rs766844227
|
|
|
NM_004333.6(BRAF):c.2128-16del
|
rs376886058
|
|
|
NM_004333.6(BRAF):c.2128-16delinsTCT
|
rs1796250484
|
|
|
NM_004333.6(BRAF):c.2128-26dup
|
rs370332827
|
|
|
NM_004333.6(BRAF):c.2128-27_2128-18del
|
rs774138098
|
|
|
NM_004333.6(BRAF):c.2128-5del
|
rs373442098
|
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
|
NM_004333.6(BRAF):c.213G>A (p.Glu71=)
|
|
|
|
NM_004333.6(BRAF):c.279A>G (p.Gln93=)
|
rs150050723
|
|
|
NM_004333.6(BRAF):c.281A>G (p.Gln94Arg)
|
rs1562985576
|
|
|
NM_004333.6(BRAF):c.331G>T (p.Val111Phe)
|
rs1807139980
|
|
|
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp)
|
rs868441785
|
|
|
NM_004333.6(BRAF):c.523G>T (p.Val175Phe)
|
rs1554404622
|
|
|
NM_004333.6(BRAF):c.608+19G>A
|
rs200908826
|
|
|
NM_004333.6(BRAF):c.608+19G>C
|
rs200908826
|
|
|
NM_004333.6(BRAF):c.612G>A (p.Glu204=)
|
rs1202874043
|
|
|
NM_004333.6(BRAF):c.669T>C (p.His223=)
|
rs2129047893
|
|
|
NM_004333.6(BRAF):c.68T>A (p.Met23Lys)
|
rs746778122
|
|
|
NM_004333.6(BRAF):c.708C>A (p.Asn236Lys)
|
rs138333692
|
|
|
NM_004333.6(BRAF):c.711+4T>C
|
rs1562969586
|
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
|
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)
|
rs397507465
|
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
|
NM_004333.6(BRAF):c.784C>A (p.Gln262Lys)
|
rs397507470
|
|
|
NM_004333.6(BRAF):c.826G>C (p.Val276Leu)
|
rs1057518105
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1])
|
rs397507458
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
|
NM_004333.6(BRAF):c.858T>G (p.Leu286=)
|
rs758553809
|
|
|
NM_004333.6(BRAF):c.980+13T>C
|
rs1802961360
|
|
|
NM_004341.5(CAD):c.1064A>C (p.Glu355Ala)
|
rs552009857
|
|
|
NM_004341.5(CAD):c.2378_2379del (p.Thr793fs)
|
|
|
|
NM_004341.5(CAD):c.3399+5G>T
|
|
|
|
NM_004341.5(CAD):c.626T>A (p.Leu209Gln)
|
rs1675230102
|
|
|
NM_004341.5(CAD):c.736C>G (p.Arg246Gly)
|
rs772034961
|
|
|
NM_004360.5(CDH1):c.-2C>T
|
rs1567470707
|
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
|
NM_004360.5(CDH1):c.1115C>A (p.Pro372His)
|
rs1555515760
|
|
|
NM_004360.5(CDH1):c.1115C>T (p.Pro372Leu)
|
rs1555515760
|
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
|
NM_004360.5(CDH1):c.120G>A (p.Thr40=)
|
rs786201115
|
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
|
NM_004360.5(CDH1):c.125C>G (p.Pro42Arg)
|
rs876659333
|
|
|
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys)
|
rs187862045
|
|
|
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)
|
rs557551011
|
|
|
NM_004360.5(CDH1):c.1320+4T>C
|
rs1567508005
|
|
|
NM_004360.5(CDH1):c.1321-6C>T
|
|
|
|
NM_004360.5(CDH1):c.1332T>A (p.Phe444Leu)
|
rs1392114487
|
|
|
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)
|
rs139937234
|
|
|
NM_004360.5(CDH1):c.1420A>G (p.Thr474Ala)
|
rs773858736
|
|
|
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr)
|
rs587783049
|
|
|
NM_004360.5(CDH1):c.1466C>A (p.Pro489His)
|
rs766713582
|
|
|
NM_004360.5(CDH1):c.1514T>C (p.Ile505Thr)
|
rs1597898186
|
|
|
NM_004360.5(CDH1):c.1530C>T (p.Ala510=)
|
rs1597898262
|
|
|
NM_004360.5(CDH1):c.1542C>G (p.Asp514Glu)
|
rs1555516187
|
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
|
NM_004360.5(CDH1):c.1565+6T>A
|
rs587780785
|
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
|
NM_004360.5(CDH1):c.1566-8C>G
|
rs587780114
|
|
|
NM_004360.5(CDH1):c.1566-9C>A
|
rs1555516509
|
|
|
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)
|
rs886039590
|
|
|
NM_004360.5(CDH1):c.1630A>G (p.Thr544Ala)
|
rs786202107
|
|
|
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)
|
rs587780115
|
|
|
NM_004360.5(CDH1):c.1690C>T (p.Leu564=)
|
rs786201342
|
|
|
NM_004360.5(CDH1):c.1692A>T (p.Leu564=)
|
rs1060504168
|
|
|
NM_004360.5(CDH1):c.1711+9G>C
|
rs368770384
|
|
|
NM_004360.5(CDH1):c.1772A>G (p.Asn591Ser)
|
rs1555516835
|
|
|
NM_004360.5(CDH1):c.1776C>T (p.Ala592=)
|
rs876660329
|
|
|
NM_004360.5(CDH1):c.1829A>C (p.Gln610Pro)
|
rs1555516856
|
|
|
NM_004360.5(CDH1):c.1859C>T (p.Pro620Leu)
|
rs1555516871
|
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
|
NM_004360.5(CDH1):c.1914G>C (p.Trp638Cys)
|
rs1961170989
|
|
|
NM_004360.5(CDH1):c.1917C>T (p.Thr639=)
|
rs1057522719
|
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
|
NM_004360.5(CDH1):c.1949T>C (p.Ile650Thr)
|
rs747235838
|
|
|
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr)
|
rs2152139271
|
|
|
NM_004360.5(CDH1):c.1983T>C (p.Gly661=)
|
rs748114797
|
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
|
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)
|
rs730881660
|
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
|
NM_004360.5(CDH1):c.2101G>A (p.Val701Ile)
|
rs1426734014
|
|
|
NM_004360.5(CDH1):c.2137A>G (p.Ile713Val)
|
rs1289236005
|
|
|
NM_004360.5(CDH1):c.2168T>A (p.Leu723Gln)
|
|
|
|
NM_004360.5(CDH1):c.2186T>G (p.Leu729Arg)
|
|
|
|
NM_004360.5(CDH1):c.2205G>C (p.Ala735=)
|
rs138493551
|
|
|
NM_004360.5(CDH1):c.2218C>T (p.Pro740Ser)
|
rs773795943
|
|
|
NM_004360.5(CDH1):c.2227C>G (p.Pro743Ala)
|
rs786203005
|
|
|
NM_004360.5(CDH1):c.2231C>T (p.Pro744Leu)
|
rs1001200905
|
|
|
NM_004360.5(CDH1):c.2243C>G (p.Thr748Ser)
|
rs1555517660
|
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
|
NM_004360.5(CDH1):c.2333C>T (p.Ala778Val)
|
rs876659951
|
|
|
NM_004360.5(CDH1):c.2343A>G (p.Glu781=)
|
rs587780119
|
|
|
NM_004360.5(CDH1):c.2370C>T (p.Thr790=)
|
rs1596972620
|
|
|
NM_004360.5(CDH1):c.2386del (p.Arg796fs)
|
rs1375617541
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
|
NM_004360.5(CDH1):c.2440-18_2440-10del
|
|
|
|
NM_004360.5(CDH1):c.2440-6C>T
|
rs139757930
|
|
|
NM_004360.5(CDH1):c.2493C>G (p.Leu831=)
|
rs779267700
|
|
|
NM_004360.5(CDH1):c.2531G>T (p.Ser844Ile)
|
rs1247754103
|
|
|
NM_004360.5(CDH1):c.2533C>T (p.Leu845=)
|
rs1281904866
|
|
|
NM_004360.5(CDH1):c.2566G>A (p.Asp856Asn)
|
rs2152144092
|
|
|
NM_004360.5(CDH1):c.2624T>G (p.Met875Arg)
|
rs900118000
|
|
|
NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)
|
rs778681919
|
|
|
NM_004360.5(CDH1):c.270G>A (p.Arg90=)
|
rs777822181
|
|
|
NM_004360.5(CDH1):c.281C>G (p.Pro94Arg)
|
rs1567501219
|
|
|
NM_004360.5(CDH1):c.286A>T (p.Ile96Phe)
|
rs749306433
|
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
|
NM_004360.5(CDH1):c.377C>G (p.Pro126Arg)
|
rs746703615
|
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
|
NM_004360.5(CDH1):c.414A>G (p.Glu138=)
|
rs1555515193
|
|
|
NM_004360.5(CDH1):c.442G>A (p.Gly148Ser)
|
rs1567504543
|
|
|
NM_004360.5(CDH1):c.45G>A (p.Leu15=)
|
rs746331438
|
|
|
NM_004360.5(CDH1):c.516T>G (p.Pro172=)
|
rs2152129814
|
|
|
NM_004360.5(CDH1):c.531+1G>A
|
rs1131690808
|
|
|
NM_004360.5(CDH1):c.535A>G (p.Lys179Glu)
|
rs1555515244
|
|
|
NM_004360.5(CDH1):c.573C>T (p.Ser191=)
|
rs1185108871
|
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
|
NM_004360.5(CDH1):c.616A>G (p.Ile206Val)
|
rs1004655282
|
|
|
NM_004360.5(CDH1):c.653A>G (p.Glu218Gly)
|
rs878854693
|
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
|
NM_004360.5(CDH1):c.674T>C (p.Ile225Thr)
|
rs786203207
|
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
|
NM_004360.5(CDH1):c.717G>A (p.Gly239=)
|
rs749491453
|
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
|
NM_004360.5(CDH1):c.818A>T (p.Glu273Val)
|
rs1555515467
|
|
|
NM_004360.5(CDH1):c.833-9C>G
|
rs878854698
|
|
|
NM_004360.5(CDH1):c.844A>G (p.Met282Val)
|
|
|
|
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)
|
rs1131690820
|
|
|
NM_004360.5(CDH1):c.946A>G (p.Met316Val)
|
rs761182866
|
|
|
NM_004366.6(CLCN2):c.1113delinsACTGCTCAT (p.Ser375fs)
|
rs863225251
|
|
|
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)
|
|
|
|
NM_004366.6(CLCN2):c.211C>T (p.Arg71Ter)
|
|
|
|
NM_004366.6(CLCN2):c.620C>T (p.Pro207Leu)
|
|
|
|
NM_004369.4(COL6A3):c.2507G>T (p.Arg836Leu)
|
rs763810209
|
|
|
NM_004369.4(COL6A3):c.2655G>T (p.Lys885Asn)
|
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
|
NM_004369.4(COL6A3):c.4010C>G (p.Pro1337Arg)
|
|
|
|
NM_004369.4(COL6A3):c.4258T>C (p.Leu1420=)
|
|
|
|
NM_004369.4(COL6A3):c.4291G>C (p.Glu1431Gln)
|
|
|
|
NM_004369.4(COL6A3):c.6157-1G>A
|
|
|
|
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
|
|
|
|
NM_004369.4(COL6A3):c.6627+19C>T
|
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
|
NM_004369.4(COL6A3):c.7425C>A (p.Asn2475Lys)
|
rs998223951
|
|
|
NM_004369.4(COL6A3):c.8341A>G (p.Lys2781Glu)
|
rs2076965280
|
|
|
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
|
|
|
|
NM_004370.6(COL12A1):c.822G>A (p.Leu274=)
|
|
|
|
NM_004371.4(COPA):c.1077-6CT[3]
|
rs750537666
|
|
|
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
|
|
|
|
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
|
|
|
|
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
|
|
|
|
NM_004380.3(CREBBP):c.2921C>A (p.Thr974Asn)
|
|
|
|
NM_004380.3(CREBBP):c.3983-8C>T
|
|
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
|
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
|
|
|
|
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)
|
rs886039491
|
|
|
NM_004380.3(CREBBP):c.5962_5979del (p.Met1988_Ser1993del)
|
|
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
|
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)
|
|
|
|
NM_004385.5(VCAN):c.1292A>G (p.Lys431Arg)
|
|
|
|
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=)
|
rs72554029
|
|
|
NM_004387.4(NKX2-5):c.543G>C (p.Gln181His)
|
rs72554028
|
|
|
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu)
|
rs1554093444
|
|
|
NM_004397.6(DDX6):c.107C>G (p.Thr36Arg)
|
|
|
|
NM_004397.6(DDX6):c.1186C>T (p.Arg396Ter)
|
|
|
|
NM_004397.6(DDX6):c.647-13A>G
|
rs2137451978
|
|
|
NM_004397.6(DDX6):c.865-13G>A
|
|
|
|
NM_004408.4(DNM1):c.1335+13C>T
|
|
|
|
NM_004408.4(DNM1):c.1594G>C (p.Gly532Arg)
|
|
|
|
NM_004408.4(DNM1):c.649C>T (p.Arg217Cys)
|
|
|
|
NM_004409.5(DMPK):c.171del (p.Ile57fs)
|
|
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1161T>A (p.Ser387=)
|
rs1758909456
|
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
|
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del)
|
rs193922668
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
|
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)
|
rs1561690319
|
|
|
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile)
|
rs200053977
|
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
|
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys)
|
rs1759071281
|
|
|
NM_004415.4(DSP):c.2298-10C>G
|
|
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
|
NM_004415.4(DSP):c.2436+16A>G
|
rs199555263
|
|
|
NM_004415.4(DSP):c.2631-3C>T
|
rs1041054817
|
|
|
NM_004415.4(DSP):c.2631-3_2631delinsTAGA
|
|
|
|
NM_004415.4(DSP):c.272C>T (p.Pro91Leu)
|
rs1561679365
|
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
|
NM_004415.4(DSP):c.3165del (p.Asn1055fs)
|
rs2113691213
|
|
|
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
|
rs886039178
|
|
|
NM_004415.4(DSP):c.319T>C (p.Leu107=)
|
|
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
|
NM_004415.4(DSP):c.3462T>A (p.Gly1154=)
|
rs1554108086
|
|
|
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met)
|
rs1561697488
|
|
|
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)
|
rs1561697838
|
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn)
|
rs1759376700
|
|
|
NM_004415.4(DSP):c.4232G>A (p.Arg1411Lys)
|
|
|
|
NM_004415.4(DSP):c.4521A>G (p.Leu1507=)
|
rs1060500611
|
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
|
NM_004415.4(DSP):c.5116C>T (p.Leu1706=)
|
rs1759432452
|
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
|
NM_004415.4(DSP):c.598-19C>G
|
|
|
|
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
|
|
|
|
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro)
|
rs1759514959
|
|
|
NM_004415.4(DSP):c.6153C>G (p.Ala2051=)
|
rs193922670
|
|
|
NM_004415.4(DSP):c.6160G>T (p.Ala2054Ser)
|
rs1759517531
|
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
|
NM_004415.4(DSP):c.6558G>A (p.Leu2186=)
|
rs1759540433
|
|
|
NM_004415.4(DSP):c.6993T>C (p.Ser2331=)
|
rs767282172
|
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
|
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs)
|
rs1581823931
|
|
|
NM_004415.4(DSP):c.7623del (p.Lys2542fs)
|
rs397514039
|
|
|
NM_004415.4(DSP):c.7893C>T (p.Ile2631=)
|
rs778552693
|
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
|
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter)
|
rs2113704410
|
|
|
NM_004415.4(DSP):c.8320C>T (p.Leu2774=)
|
rs397516964
|
|
|
NM_004415.4(DSP):c.8454C>T (p.Asn2818=)
|
|
|
|
NM_004415.4(DSP):c.8490C>A (p.Arg2830=)
|
rs1221382084
|
|
|
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3])
|
rs1554109280
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.940-7T>G
|
rs1368622056
|
|
|
NM_004423.4(DVL3):c.812G>A (p.Arg271His)
|
|
|
|
NM_004429.5(EFNB1):c.457_458dup (p.Arg154fs)
|
rs2080471528
|
|
|
NM_004444.5(EPHB4):c.1636G>C (p.Val546Leu)
|
|
|
|
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)
|
rs1562969219
|
|
|
NM_004446.3(EPRS1):c.3271A>G (p.Lys1091Glu)
|
|
|
|
NM_004446.3(EPRS1):c.3586G>T (p.Val1196Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
|
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
|
|
NM_004453.4(ETFDH):c.1469G>C (p.Gly490Ala)
|
rs2126316052
|
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
|
NM_004453.4(ETFDH):c.1774T>C (p.Cys592Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1813dup (p.Val605fs)
|
|
|
|
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)
|
|
|
|
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
|
|
|
|
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)
|
rs121964956
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
|
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)
|
|
|
|
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
|
rs1773956133
|
|
|
NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)
|
|
|
|
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile)
|
rs2150312216
|
|
|
NM_004462.5(FDFT1):c.452G>A (p.Gly151Asp)
|
|
|
|
NM_004462.5(FDFT1):c.702+1G>T
|
|
|
|
NM_004462.5(FDFT1):c.87del (p.Lys30fs)
|
|
|
|
NM_004463.3(FGD1):c.1699C>T (p.Arg567Ter)
|
|
|
|
NM_004463.3(FGD1):c.481+17A>G
|
|
|
|
NM_004463.3(FGD1):c.571G>A (p.Asp191Asn)
|
rs1922868484
|
|
|
NM_004482.4(GALNT3):c.516-2A>G
|
|
|
|
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
|
|
|
|
NM_004493.3(HSD17B10):c.455A>G (p.Asn152Ser)
|
rs2146627999
|
|
|
NM_004519.4(KCNQ3):c.1624G>A (p.Asp542Asn)
|
rs1005759975
|
|
|
NM_004519.4(KCNQ3):c.2139del (p.Phe713fs)
|
rs1554621412
|
|
|
NM_004522.3(KIF5C):c.10C>A (p.Pro4Thr)
|
|
|
|
NM_004522.3(KIF5C):c.2779C>T (p.Arg927Cys)
|
rs867604993
|
|
|
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)
|
rs587777570
|
|
|
NM_004522.3(KIF5C):c.820-13T>C
|
|
|
|
NM_004522.3(KIF5C):c.820-4A>G
|
|
|
|
NM_004523.4(KIF11):c.1494+8C>T
|
|
|
|
NM_004523.4(KIF11):c.1876-18G>C
|
|
|
|
NM_004523.4(KIF11):c.308+14T>A
|
|
|
|
NM_004525.3(LRP2):c.10654T>G (p.Phe3552Val)
|
rs2105284304
|
|
|
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
|
|
|
|
NM_004525.3(LRP2):c.3157G>A (p.Asp1053Asn)
|
rs1432929481
|
|
|
NM_004525.3(LRP2):c.4733G>A (p.Arg1578His)
|
|
|
|
NM_004525.3(LRP2):c.4866G>A (p.Met1622Ile)
|
rs2105375209
|
|
|
NM_004525.3(LRP2):c.770-4dup
|
|
|
|
NM_004525.3(LRP2):c.8579C>T (p.Thr2860Ile)
|
rs765920078
|
|
|
NM_004526.4(MCM2):c.53G>C (p.Arg18Pro)
|
|
|
|
NM_004531.5(MOCS2):c.377+4T>C
|
|
|
|
NM_004560.4(ROR2):c.1801G>A (p.Ala601Thr)
|
|
|
|
NM_004560.4(ROR2):c.2254del (p.Leu752fs)
|
|
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
|
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys)
|
rs748746721
|
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
|
NM_004588.5(SCN2B):c.389T>C (p.Met130Thr)
|
|
|
|
NM_004588.5(SCN2B):c.70+11_70+12insCT
|
rs72544143
|
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
|
NM_004606.5(TAF1):c.247A>C (p.Ser83Arg)
|
rs2032701000
|
|
|
NM_004606.5(TAF1):c.3407-1G>A
|
|
|
|
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)
|
rs2034990430
|
|
|
NM_004606.5(TAF1):c.5399+1_5399+72dup
|
|
|
|
NM_004606.5(TAF1):c.551G>T (p.Ser184Ile)
|
|
|
|
NM_004606.5(TAF1):c.614A>T (p.Asp205Val)
|
rs2033530376
|
|
|
NM_004612.4(TGFBR1):c.-69C>A
|
|
|
|
NM_004612.4(TGFBR1):c.-91C>T
|
|
|
|
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met)
|
rs1554701926
|
|
|
NM_004612.4(TGFBR1):c.1203C>A (p.Ile401=)
|
|
|
|
NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=)
|
rs201163170
|
|
|
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu)
|
rs1554702748
|
|
|
NM_004612.4(TGFBR1):c.32G>A (p.Arg11Gln)
|
rs886038980
|
|
|
NM_004612.4(TGFBR1):c.344-74del
|
rs193922675
|
|
|
NM_004612.4(TGFBR1):c.344-9C>T
|
|
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
|
NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val)
|
rs1333080544
|
|
|
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)
|
rs863223829
|
|
|
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)
|
rs1060502046
|
|
|
NM_004612.4(TGFBR1):c.705C>G (p.Ser235=)
|
rs1325342802
|
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
|
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys)
|
rs1057524497
|
|
|
NM_004612.4(TGFBR1):c.806-15_806-7del
|
rs2118776036
|
|
|
NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del)
|
rs2118166265
|
|
|
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)
|
rs281865507
|
|
|
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)
|
rs137886900
|
|
|
NM_004614.5(TK2):c.604_606del (p.Lys202del)
|
rs281865501
|
|
|
NM_004614.5(TK2):c.698T>C (p.Leu233Pro)
|
|
|
|
NM_004614.5(TK2):c.71_72insTT (p.Pro25fs)
|
rs2144497920
|
|
|
NM_004615.4(TSPAN7):c.473A>G (p.Asn158Ser)
|
|
|
|
NM_004628.5(XPC):c.-1C>T
|
|
|
|
NM_004628.5(XPC):c.1001C>T (p.Pro334Leu)
|
|
|
|
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)
|
rs754532049
|
|
|
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)
|
rs1696002966
|
|
|
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)
|
rs1695999145
|
|
|
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
|
|
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
|
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)
|
rs370126012
|
|
|
NM_004628.5(XPC):c.420_423del (p.Glu141fs)
|
rs1330667099
|
|
|
NM_004628.5(XPC):c.463C>T (p.Arg155Ter)
|
rs755825264
|
|
|
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)
|
rs752088918
|
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
|
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
|
|
|
|
NM_004629.2(FANCG):c.1795del (p.Trp599fs)
|
|
|
|
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)
|
rs532302967
|
|
|
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)
|
rs1829130135
|
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
|
NM_004629.2(FANCG):c.686T>C (p.Leu229Pro)
|
rs2131056621
|
|
|
NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11dup)
|
rs193922941
|
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
|
|
NM_004646.4(NPHS1):c.1154A>G (p.Glu385Gly)
|
|
|
|
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)
|
rs386833876
|
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
|
NM_004646.4(NPHS1):c.1315+1G>A
|
|
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
|
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_004646.4(NPHS1):c.1726G>T (p.Val576Phe)
|
rs1973129887
|
|
|
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)
|
rs386833892
|
|
|
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
|
|
|
|
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)
|
|
|
|
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
|
|
|
|
NM_004646.4(NPHS1):c.2387del (p.Gly796fs)
|
rs1568453378
|
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
|
NM_004646.4(NPHS1):c.2541del (p.Lys848fs)
|
rs1555761997
|
|
|
NM_004646.4(NPHS1):c.2587T>C (p.Cys863Arg)
|
|
|
|
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)
|
rs386833921
|
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
|
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys)
|
rs2146816353
|
|
|
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)
|
rs762184939
|
|
|
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu)
|
rs386833934
|
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
|
NM_004646.4(NPHS1):c.3274C>T (p.Arg1092Cys)
|
|
|
|
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala)
|
rs537783084
|
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
|
NM_004646.4(NPHS1):c.3594+2T>C
|
|
|
|
NM_004646.4(NPHS1):c.3701del (p.Phe1234fs)
|
|
|
|
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
|
|
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
|
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)
|
rs1555763603
|
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
|
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)
|
rs34982899
|
|
|
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)
|
rs781584590
|
|
|
NM_004655.4(AXIN2):c.1060-2A>G
|
rs2144478938
|
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
|
NM_004655.4(AXIN2):c.1338C>A (p.Val446=)
|
rs369864600
|
|
|
NM_004655.4(AXIN2):c.1531A>G (p.Thr511Ala)
|
rs376936740
|
|
|
NM_004655.4(AXIN2):c.1608G>A (p.Thr536=)
|
rs1403070766
|
|
|
NM_004655.4(AXIN2):c.1821G>A (p.Gln607=)
|
rs1242108165
|
|
|
NM_004655.4(AXIN2):c.1927G>T (p.Ala643Ser)
|
rs748005374
|
|
|
NM_004655.4(AXIN2):c.1933C>G (p.Pro645Ala)
|
rs1405864888
|
|
|
NM_004655.4(AXIN2):c.2013_2024del (p.Thr672_Arg675del)
|
rs151279728
|
|
|
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=)
|
rs143243661
|
|
|
NM_004655.4(AXIN2):c.958G>C (p.Asp320His)
|
rs1060502136
|
|
|
NM_004667.6(HERC2):c.11300-15C>G
|
|
|
|
NM_004667.6(HERC2):c.4582C>T (p.Leu1528Phe)
|
rs780527731
|
|
|
NM_004667.6(HERC2):c.5465-5A>G
|
|
|
|
NM_004700.4(KCNQ4):c.834+5G>A
|
|
|
|
NM_004700.4(KCNQ4):c.836T>G (p.Ile279Ser)
|
|
|
|
NM_004713.6(NEMF):c.1066C>T (p.Gln356Ter)
|
|
|
|
NM_004722.4(AP4M1):c.568del (p.Asp190fs)
|
|
|
|
NM_004733.4(SLC33A1):c.1117T>G (p.Leu373Val)
|
|
|
|
NM_004733.4(SLC33A1):c.1425A>G (p.Thr475=)
|
|
|
|
NM_004733.4(SLC33A1):c.1518C>T (p.Ala506=)
|
|
|
|
NM_004733.4(SLC33A1):c.463A>G (p.Met155Val)
|
|
|
|
NM_004733.4(SLC33A1):c.7C>G (p.Pro3Ala)
|
|
|
|
NM_004736.4(XPR1):c.1213G>A (p.Val405Met)
|
|
|
|
NM_004736.4(XPR1):c.1502-13C>A
|
|
|
|
NM_004736.4(XPR1):c.2074G>A (p.Asp692Asn)
|
|
|
|
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
|
|
|
|
NM_004744.5(LRAT):c.487C>T (p.His163Tyr)
|
rs1010347467
|
|
|
NM_004750.5(CRLF1):c.-131_21del (p.Met1fs)
|
|
|
|
NM_004750.5(CRLF1):c.1024+2_1024+5dup
|
|
|
|
NM_004750.5(CRLF1):c.1212+17C>T
|
|
|
|
NM_004750.5(CRLF1):c.1A>G (p.Met1Val)
|
rs2145339928
|
|
|
NM_004750.5(CRLF1):c.31_53del (p.Gln11fs)
|
rs137853929
|
|
|
NM_004750.5(CRLF1):c.4_10del (p.Pro2fs)
|
|
|
|
NM_004750.5(CRLF1):c.63_66delinsT (p.Leu26del)
|
|
|
|
NM_004752.4(GCM2):c.22G>T (p.Glu8Ter)
|
|
|
|
NM_004752.4(GCM2):c.764T>G (p.Met255Arg)
|
|
|
|
NM_004752.4(GCM2):c.90+2T>G
|
|
|
|
NM_004757.4(AIMP1):c.-26+204A>G
|
|
|
|
NM_004773.4(ZNHIT3):c.255_258del (p.Asp85fs)
|
|
|
|
NM_004773.4(ZNHIT3):c.302dup (p.Leu101fs)
|
rs763435615
|
|
|
NM_004780.3(TCEAL1):c.413A>G (p.Lys138Arg)
|
|
|
|
NM_004780.3(TCEAL1):c.84dup (p.Pro29fs)
|
|
|
|
NM_004793.4(LONP1):c.1026G>C (p.Glu342Asp)
|
|
|
|
NM_004793.4(LONP1):c.902G>A (p.Arg301Gln)
|
|
|
|
NM_004807.3(HS6ST1):c.857G>A (p.Arg286Gln)
|
|
|
|
NM_004813.4(PEX16):c.956_958del (p.Pro319del)
|
rs754790425
|
|
|
NM_004820.5(CYP7B1):c.799A>G (p.Arg267Gly)
|
rs2129630196
|
|
|
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)
|
rs866340497
|
|
|
NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)
|
|
|
|
NM_004836.7(EIF2AK3):c.3194G>A (p.Arg1065Gln)
|
|
|
|
NM_004839.4(HOMER2):c.107A>G (p.Tyr36Cys)
|
|
|
|
NM_004855.5(PIGB):c.-2G>T
|
|
|
|
NM_004855.5(PIGB):c.1626del (p.Lys543fs)
|
|
|
|
NM_004859.4(CLTC):c.2562-6dup
|
|
|
|
NM_004859.4(CLTC):c.525T>C (p.Asn175=)
|
|
|
|
NM_004863.4(SPTLC2):c.1544C>T (p.Ala515Val)
|
|
|
|
NM_004870.4(MPDU1):c.619-17C>G
|
|
|
|
NM_004937.3(CTNS):c.1027_1038del (p.Ile343_Asp346del)
|
|
|
|
NM_004937.3(CTNS):c.140+6T>C
|
|
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
|
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)
|
rs879758262
|
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
|
NM_004937.3(CTNS):c.423del (p.Phe142fs)
|
rs1567709909
|
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
|
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)
|
rs200336280
|
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
|
NM_004937.3(CTNS):c.741del (p.Phe247fs)
|
|
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
|
NM_004937.3(CTNS):c.850C>T (p.Gln284Ter)
|
|
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
|
NM_004937.3(CTNS):c.872A>C (p.Tyr291Ser)
|
rs766108462
|
|
|
NM_004937.3(CTNS):c.907C>T (p.Leu303Phe)
|
rs2142981414
|
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
|
NM_004937.3(CTNS):c.970+3G>A
|
|
|
|
NM_004958.4(MTOR):c.163-20G>A
|
|
|
|
NM_004958.4(MTOR):c.3525C>G (p.Asp1175Glu)
|
|
|
|
NM_004958.4(MTOR):c.4687-3T>C
|
rs760066667
|
|
|
NM_004958.4(MTOR):c.4998+1G>A
|
|
|
|
NM_004958.4(MTOR):c.5592G>A (p.Pro1864=)
|
rs762660728
|
|
|
NM_004958.4(MTOR):c.6247_6248insT (p.Glu2083fs)
|
rs1642875607
|
|
|
NM_004958.4(MTOR):c.7017-4A>G
|
|
|
|
NM_004960.4(FUS):c.1539C>T (p.Ser513=)
|
|
|
|
NM_004970.3(IGFALS):c.1143G>T (p.Val381=)
|
|
|
|
NM_004970.3(IGFALS):c.1399C>T (p.Arg467Cys)
|
|
|
|
NM_004970.3(IGFALS):c.1483dup (p.Glu495fs)
|
|
|
|
NM_004970.3(IGFALS):c.1678C>T (p.Arg560Cys)
|
|
|
|
NM_004970.3(IGFALS):c.17-72G>A
|
|
|
|
NM_004970.3(IGFALS):c.531C>T (p.Leu177=)
|
|
|
|
NM_004973.4(JARID2):c.2542-8C>A
|
|
|
|
NM_004975.4(KCNB1):c.1072G>A (p.Asp358Asn)
|
|
|
|
NM_004975.4(KCNB1):c.1570C>T (p.Leu524=)
|
|
|
|
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
|
|
|
|
NM_004977.3(KCNC3):c.709G>A (p.Gly237Arg)
|
|
|
|
NM_004977.3(KCNC3):c.965C>T (p.Thr322Met)
|
|
|
|
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp)
|
rs1882197501
|
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
|
NM_004984.4(KIF5A):c.1701C>T (p.Asn567=)
|
rs2140165659
|
|
|
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
|
|
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
|
NM_004985.5(KRAS):c.105A>C (p.Thr35=)
|
|
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
|
NM_004985.5(KRAS):c.179G>A (p.Gly60Asp)
|
|
|
|
NM_004985.5(KRAS):c.20T>A (p.Val7Glu)
|
|
|
|
NM_004985.5(KRAS):c.214A>T (p.Met72Leu)
|
rs727504662
|
|
|
NM_004985.5(KRAS):c.220A>C (p.Thr74Pro)
|
rs770020203
|
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
|
NM_004985.5(KRAS):c.451-5575A>G
|
rs1555192913
|
|
|
NM_004985.5(KRAS):c.451-5604T>C
|
rs397517476
|
|
|
NM_004990.4(MARS1):c.1293+5G>A
|
rs1876872609
|
|
|
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
|
|
|
|
NM_004990.4(MARS1):c.1842T>G (p.Ala614=)
|
|
|
|
NM_004990.4(MARS1):c.2278A>G (p.Met760Val)
|
|
|
|
NM_004990.4(MARS1):c.2387G>T (p.Gly796Val)
|
|
|
|
NM_004990.4(MARS1):c.415-13A>G
|
|
|
|
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
|
|
|
|
NM_004991.4(MECOM):c.972T>G (p.Cys324Trp)
|
|
|
|
NM_004999.4(MYO6):c.2416+1G>A
|
|
|
|
NM_005004.4(NDUFB8):c.358del (p.Ser120fs)
|
rs2133710956
|
|
|
NM_005005.3(NDUFB9):c.409-1G>C
|
|
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
|
NM_005027.4(PIK3R2):c.1216C>G (p.Arg406Gly)
|
|
|
|
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)
|
rs372318863
|
|
|
NM_005035.4(POLRMT):c.1783A>C (p.Lys595Gln)
|
|
|
|
NM_005035.4(POLRMT):c.2386C>G (p.Leu796Val)
|
|
|
|
NM_005035.4(POLRMT):c.2565G>T (p.Glu855Asp)
|
|
|
|
NM_005035.4(POLRMT):c.3142C>T (p.Arg1048Trp)
|
|
|
|
NM_005035.4(POLRMT):c.3389C>G (p.Ser1130Cys)
|
|
|
|
NM_005035.4(POLRMT):c.3496-5C>T
|
|
|
|
NM_005045.4(RELN):c.3085A>G (p.Ile1029Val)
|
|
|
|
NM_005045.4(RELN):c.4748-12A>T
|
rs1830753146
|
|
|
NM_005045.4(RELN):c.48G>T (p.Leu16Phe)
|
|
|
|
NM_005045.4(RELN):c.6199T>C (p.Ser2067Pro)
|
rs1830401821
|
|
|
NM_005045.4(RELN):c.6575G>C (p.Arg2192Pro)
|
rs1309424440
|
|
|
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys)
|
rs587780438
|
|
|
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
|
|
|
|
NM_005045.4(RELN):c.9072T>C (p.Pro3024=)
|
|
|
|
NM_005050.4(ABCD4):c.1118+1G>A
|
|
|
|
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)
|
rs745414252
|
|
|
NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)
|
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
|
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
|
|
|
|
NM_005050.4(ABCD4):c.1737G>A (p.Arg579=)
|
rs761542324
|
|
|
NM_005050.4(ABCD4):c.1779_1780del (p.Cys593fs)
|
rs1566906720
|
|
|
NM_005050.4(ABCD4):c.206G>A (p.Gly69Glu)
|
|
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
|
NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs)
|
rs1131691986
|
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
|
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)
|
rs142635726
|
|
|
NM_005055.5(RAPSN):c.624C>G (p.Ser208Arg)
|
|
|
|
NM_005068.3(SIM1):c.1438G>T (p.Gly480Ter)
|
rs772202157
|
|
|
NM_005084.4(PLA2G7):c.1277A>G (p.Asn426Ser)
|
|
|
|
NM_005084.4(PLA2G7):c.667C>T (p.Arg223Trp)
|
|
|
|
NM_005084.4(PLA2G7):c.774G>A (p.Leu258=)
|
|
|
|
NM_005085.4(NUP214):c.4522A>G (p.Ser1508Gly)
|
rs967108471
|
|
|
NM_005085.4(NUP214):c.4828G>T (p.Glu1610Ter)
|
|
|
|
NM_005094.4(SLC27A4):c.-6-2A>G
|
rs2131249868
|
|
|
NM_005094.4(SLC27A4):c.1463-2A>C
|
|
|
|
NM_005120.3(MED12):c.1101+8_1101+9insCCTAGGCGGGTACCCTACAGCTACAGGTAGGTACCC
|
|
|
|
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
|
rs950787066
|
|
|
NM_005120.3(MED12):c.2294A>T (p.Asp765Val)
|
rs1243443016
|
|
|
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)
|
rs2147793341
|
|
|
NM_005120.3(MED12):c.2423-6C>T
|
|
|
|
NM_005120.3(MED12):c.2541+1G>A
|
|
|
|
NM_005120.3(MED12):c.2941T>A (p.Ser981Thr)
|
rs2147799502
|
|
|
NM_005120.3(MED12):c.33C>A (p.His11Gln)
|
|
|
|
NM_005121.3(MED13):c.1036dup (p.Val346fs)
|
rs2143672313
|
|
|
NM_005138.3(SCO2):c.289G>T (p.Ala97Ser)
|
|
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
|
NM_005138.3(SCO2):c.773T>C (p.Met258Thr)
|
|
|
|
NM_005141.5(FGB):c.114+11del
|
rs779228767
|
|
|
NM_005141.5(FGB):c.306+7_306+8delinsAA
|
|
|
|
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
|
|
|
|
NM_005141.5(FGB):c.773A>C (p.Gln258Pro)
|
|
|
|
NM_005141.5(FGB):c.956C>T (p.Pro319Leu)
|
|
|
|
NM_005149.3(TBX19):c.782del (p.Asn261fs)
|
rs730880274
|
|
|
NM_005159.5(ACTC1):c.129+18dup
|
rs148433308
|
|
|
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr)
|
rs1566967697
|
|
|
NM_005159.5(ACTC1):c.42C>T (p.Asn14=)
|
rs1257278537
|
|
|
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile)
|
rs1379875828
|
|
|
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu)
|
rs193922681
|
|
|
NM_005159.5(ACTC1):c.809-14del
|
rs1891700511
|
|
|
NM_005159.5(ACTC1):c.809-16del
|
|
|
|
NM_005159.5(ACTC1):c.809-18del
|
rs1891700805
|
|
|
NM_005159.5(ACTC1):c.809-58TG[14]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[15]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[16]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[18]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[19]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[20]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[27]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[31]
|
|
|
|
NM_005159.5(ACTC1):c.809-58TG[33]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[36]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.915C>T (p.Thr305=)
|
rs1049511214
|
|
|
NM_005184.4(CALM3):c.165G>A (p.Glu55=)
|
|
|
|
NM_005184.4(CALM3):c.422-24CT[4]
|
rs200365925
|
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
|
NM_005188.4(CBL):c.1095+18_1095+19delinsGT
|
rs2135303045
|
|
|
NM_005188.4(CBL):c.1168G>C (p.Asp390His)
|
rs267606707
|
|
|
NM_005188.4(CBL):c.118C>G (p.His40Asp)
|
rs1949270382
|
|
|
NM_005188.4(CBL):c.1193A>G (p.His398Arg)
|
rs1303812580
|
|
|
NM_005188.4(CBL):c.1228-10dup
|
rs397517078
|
|
|
NM_005188.4(CBL):c.1228-20_1228-17del
|
rs370327162
|
|
|
NM_005188.4(CBL):c.1298del (p.Pro433fs)
|
|
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
|
NM_005188.4(CBL):c.1431+10C>T
|
|
|
|
NM_005188.4(CBL):c.1512G>T (p.Pro504=)
|
rs758285751
|
|
|
NM_005188.4(CBL):c.1538C>T (p.Ala513Val)
|
rs1949970576
|
|
|
NM_005188.4(CBL):c.1564-16C>T
|
rs992126448
|
|
|
NM_005188.4(CBL):c.1705_1707del (p.Pro569del)
|
rs2135310558
|
|
|
NM_005188.4(CBL):c.1739C>T (p.Pro580Leu)
|
|
|
|
NM_005188.4(CBL):c.18G>T (p.Lys6Asn)
|
|
|
|
NM_005188.4(CBL):c.195+12_195+13delinsTT
|
rs1949271281
|
|
|
NM_005188.4(CBL):c.1986C>G (p.Pro662=)
|
rs1949996439
|
|
|
NM_005188.4(CBL):c.2052A>C (p.Pro684=)
|
rs886047771
|
|
|
NM_005188.4(CBL):c.2087A>G (p.Glu696Gly)
|
rs1354142112
|
|
|
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)
|
rs1229733932
|
|
|
NM_005188.4(CBL):c.2154-8T>C
|
|
|
|
NM_005188.4(CBL):c.2246C>T (p.Thr749Ile)
|
rs2135320235
|
|
|
NM_005188.4(CBL):c.2279_2346dup (p.Ala783fs)
|
rs1950077753
|
|
|
NM_005188.4(CBL):c.2282_2362dup (p.Arg787_Arg788insHisThrGlyProGluGluSerGluAsnGluAspAspGlyTyrAspValProLysProProValProAlaValLeuAlaArg)
|
rs1950077794
|
|
|
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe)
|
rs201620100
|
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
|
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu)
|
rs2135322034
|
|
|
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr)
|
rs1950086093
|
|
|
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys)
|
rs397517081
|
|
|
NM_005188.4(CBL):c.2603G>T (p.Gly868Val)
|
rs1950087495
|
|
|
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
|
|
|
|
NM_005188.4(CBL):c.347G>T (p.Arg116Met)
|
rs748412298
|
|
|
NM_005188.4(CBL):c.357G>A (p.Met119Ile)
|
rs1490142046
|
|
|
NM_005188.4(CBL):c.445C>T (p.Arg149Ter)
|
rs267602720
|
|
|
NM_005188.4(CBL):c.534A>G (p.Thr178=)
|
rs1346848498
|
|
|
NM_005188.4(CBL):c.590+20A>T
|
|
|
|
NM_005188.4(CBL):c.747+3A>G
|
rs1592398477
|
|
|
NM_005188.4(CBL):c.747+8A>T
|
|
|
|
NM_005188.4(CBL):c.791C>T (p.Thr264Ile)
|
|
|
|
NM_005188.4(CBL):c.869+44dup
|
rs3842642
|
|
|
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del)
|
rs747062636
|
|
|
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)
|
|
|
|
NM_005202.4(COL8A2):c.679C>T (p.Pro227Ser)
|
|
|
|
NM_005215.4(DCC):c.1598A>G (p.Asn533Ser)
|
|
|
|
NM_005215.4(DCC):c.3448C>T (p.Pro1150Ser)
|
|
|
|
NM_005215.4(DCC):c.3579G>C (p.Gln1193His)
|
|
|
|
NM_005215.4(DCC):c.698-17G>T
|
|
|
|
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
|
|
|
|
NM_005233.6(EPHA3):c.1915C>A (p.Arg639Ser)
|
rs754102338
|
|
|
NM_005235.3(ERBB4):c.1452A>G (p.Arg484=)
|
|
|
|
NM_005235.3(ERBB4):c.197C>T (p.Thr66Ile)
|
|
|
|
NM_005235.3(ERBB4):c.2371A>G (p.Thr791Ala)
|
|
|
|
NM_005235.3(ERBB4):c.421G>C (p.Glu141Gln)
|
|
|
|
NM_005236.3(ERCC4):c.1214-1G>A
|
|
|
|
NM_005236.3(ERCC4):c.1469G>A (p.Arg490Gln)
|
|
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
|
NM_005236.3(ERCC4):c.187A>C (p.Asn63His)
|
rs1203098300
|
|
|
NM_005236.3(ERCC4):c.2283T>G (p.Phe761Leu)
|
rs2141620363
|
|
|
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)
|
|
|
|
NM_005247.4(FGF3):c.431del (p.Arg144fs)
|
rs2119905910
|
|
|
NM_005249.5(FOXG1):c.440A>G (p.Lys147Arg)
|
|
|
|
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe)
|
rs2138661244
|
|
|
NM_005257.6(GATA6):c.239_245del (p.Leu80fs)
|
|
|
|
NM_005262.3(GFER):c.55C>T (p.Pro19Ser)
|
|
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
|
NM_005269.3(GLI1):c.1077+20G>A
|
|
|
|
NM_005269.3(GLI1):c.1796del (p.Gly599fs)
|
rs758888293
|
|
|
NM_005269.3(GLI1):c.2008G>T (p.Ala670Ser)
|
|
|
|
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
|
|
|
|
NM_005271.5(GLUD1):c.1269G>C (p.Met423Ile)
|
|
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
|
NM_005321.3(H1-4):c.341G>A (p.Gly114Glu)
|
|
|
|
NM_005324.5(H3-3B):c.52C>T (p.Arg18Cys)
|
|
|
|
NM_005327.7(HADH):c.523G>A (p.Val175Met)
|
|
|
|
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
|
|
|
|
NM_005334.3(HCFC1):c.1520G>A (p.Ser507Asn)
|
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
|
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3858C>T (p.Thr1286=)
|
rs1475324456
|
|
|
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
|
|
|
|
NM_005334.3(HCFC1):c.5287G>A (p.Ala1763Thr)
|
|
|
|
NM_005334.3(HCFC1):c.5379+8G>A
|
|
|
|
NM_005343.4(HRAS):c.-2C>A
|
rs757657838
|
|
|
NM_005343.4(HRAS):c.-5G>A
|
rs879083675
|
|
|
NM_005343.4(HRAS):c.10T>C (p.Tyr4His)
|
rs1554885164
|
|
|
NM_005343.4(HRAS):c.112-4G>A
|
rs1589792986
|
|
|
NM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs)
|
rs1851284408
|
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
|
NM_005343.4(HRAS):c.183G>T (p.Gln61His)
|
rs121913496
|
|
|
NM_005343.4(HRAS):c.192C>T (p.Tyr64=)
|
rs2133990881
|
|
|
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln)
|
rs730880461
|
|
|
NM_005343.4(HRAS):c.27_29dup (p.Gly10dup)
|
rs1554885154
|
|
|
NM_005343.4(HRAS):c.290+10G>A
|
rs769212136
|
|
|
NM_005343.4(HRAS):c.290+1G>C
|
rs1851270546
|
|
|
NM_005343.4(HRAS):c.291-6T>G
|
rs766909143
|
|
|
NM_005343.4(HRAS):c.291-9A>G
|
rs1564789180
|
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)
|
rs104894230
|
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
|
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val)
|
rs727503094
|
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
|
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
|
rs104894226
|
|
|
NM_005343.4(HRAS):c.450+20C>A
|
rs201524241
|
|
|
NM_005343.4(HRAS):c.69G>A (p.Leu23=)
|
rs1589793671
|
|
|
NM_005343.4(HRAS):c.96C>T (p.Tyr32=)
|
rs369039481
|
|
|
NM_005349.4(RBPJ):c.37C>G (p.Pro13Ala)
|
|
|
|
NM_005356.5(LCK):c.277C>T (p.Gln93Ter)
|
|
|
|
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)
|
rs587777699
|
|
|
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val)
|
rs1060500741
|
|
|
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)
|
rs121912581
|
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
|
NM_005359.6(SMAD4):c.1140-10del
|
rs763877987
|
|
|
NM_005359.6(SMAD4):c.1140-3A>C
|
rs956212866
|
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
|
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)
|
rs1555686616
|
|
|
NM_005359.6(SMAD4):c.1392del (p.Val465fs)
|
rs1910480814
|
|
|
NM_005359.6(SMAD4):c.1447+9G>A
|
rs878854766
|
|
|
NM_005359.6(SMAD4):c.1473T>C (p.Gly491=)
|
rs1207826883
|
|
|
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp)
|
rs766833269
|
|
|
NM_005359.6(SMAD4):c.279G>C (p.Val93=)
|
rs1568203425
|
|
|
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)
|
rs876660079
|
|
|
NM_005359.6(SMAD4):c.31A>T (p.Thr11Ser)
|
rs587780791
|
|
|
NM_005359.6(SMAD4):c.339A>G (p.Lys113=)
|
rs1568203460
|
|
|
NM_005359.6(SMAD4):c.457C>G (p.Pro153Ala)
|
rs751763157
|
|
|
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser)
|
rs1555684993
|
|
|
NM_005359.6(SMAD4):c.49C>T (p.Leu17=)
|
rs1555684997
|
|
|
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter)
|
rs1909795990
|
|
|
NM_005359.6(SMAD4):c.684A>C (p.Ile228=)
|
rs1555685906
|
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
|
NM_005359.6(SMAD4):c.787+2T>C
|
rs1909895611
|
|
|
NM_005359.6(SMAD4):c.788-6T>C
|
rs1909898384
|
|
|
NM_005359.6(SMAD4):c.798C>T (p.Thr266=)
|
rs876660662
|
|
|
NM_005359.6(SMAD4):c.829A>G (p.Thr277Ala)
|
rs1555685960
|
|
|
NM_005359.6(SMAD4):c.894del (p.Gly299fs)
|
rs2144429392
|
|
|
NM_005359.6(SMAD4):c.909T>G (p.Pro303=)
|
rs141149381
|
|
|
NM_005359.6(SMAD4):c.955+6T>C
|
|
|
|
NM_005360.5(MAF):c.1050G>A (p.Lys350=)
|
|
|
|
NM_005360.5(MAF):c.435_440dup (p.Ala148_Ser149insGlyAla)
|
|
|
|
NM_005360.5(MAF):c.610G>A (p.Gly204Ser)
|
|
|
|
NM_005360.5(MAF):c.621C>A (p.Ala207=)
|
|
|
|
NM_005373.3(MPL):c.1145del (p.Pro382fs)
|
|
|
|
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
|
rs1292577132
|
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
|
NM_005373.3(MPL):c.1653+2T>C
|
|
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
|
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
|
rs763144679
|
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
|
NM_005373.3(MPL):c.378del (p.Phe126fs)
|
rs587778515
|
|
|
NM_005373.3(MPL):c.398C>T (p.Pro133Leu)
|
|
|
|
NM_005373.3(MPL):c.556C>T (p.Gln186Ter)
|
rs121913610
|
|
|
NM_005373.3(MPL):c.823C>A (p.Pro275Thr)
|
rs28928908
|
|
|
NM_005378.6(MYCN):c.354C>A (p.Ser118Arg)
|
|
|
|
NM_005391.5(PDK3):c.249-15T>C
|
|
|
|
NM_005391.5(PDK3):c.963+16T>C
|
|
|
|
NM_005402.4(RALA):c.497A>G (p.Lys166Arg)
|
|
|
|
NM_005412.6(SHMT2):c.121_122del (p.Arg41fs)
|
|
|
|
NM_005422.4(TECTA):c.3104A>G (p.Glu1035Gly)
|
|
|
|
NM_005430.4(WNT1):c.1108C>G (p.Leu370Val)
|
|
|
|
NM_005430.4(WNT1):c.506dup (p.Cys170fs)
|
rs779969402
|
|
|
NM_005445.4(SMC3):c.1671-12_1671-11del
|
|
|
|
NM_005445.4(SMC3):c.2635C>T (p.Arg879Ter)
|
|
|
|
NM_005445.4(SMC3):c.2761G>C (p.Glu921Gln)
|
rs1564795916
|
|
|
NM_005445.4(SMC3):c.3604dup (p.Thr1202fs)
|
rs2134755767
|
|
|
NM_005450.6(NOG):c.509C>G (p.Pro170Arg)
|
rs2052471344
|
|
|
NM_005458.8(GABBR2):c.1363A>G (p.Thr455Ala)
|
|
|
|
NM_005458.8(GABBR2):c.1544C>T (p.Ser515Leu)
|
rs2131489662
|
|
|
NM_005458.8(GABBR2):c.181C>T (p.Leu61Phe)
|
|
|
|
NM_005461.5(MAFB):c.452C>T (p.Ala151Val)
|
|
|
|
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)
|
|
|
|
NM_005465.7(AKT3):c.284+2T>G
|
rs1682654244
|
|
|
NM_005476.7(GNE):c.1042C>T (p.His348Tyr)
|
|
|
|
NM_005476.7(GNE):c.1281G>A (p.Lys427=)
|
rs1554659670
|
|
|
NM_005476.7(GNE):c.1411+5G>A
|
|
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
|
NM_005476.7(GNE):c.1877A>G (p.His626Arg)
|
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
|
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
|
|
|
|
NM_005476.7(GNE):c.317T>C (p.Ile106Thr)
|
rs773920008
|
|
|
NM_005476.7(GNE):c.353C>T (p.Ala118Val)
|
|
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
|
NM_005476.7(GNE):c.769+3dup
|
rs756817842
|
|
|
NM_005476.7(GNE):c.794T>C (p.Met265Thr)
|
rs2133068813
|
|
|
NM_005477.3(HCN4):c.1963G>A (p.Gly655Ser)
|
|
|
|
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)
|
rs1158677290
|
|
|
NM_005477.3(HCN4):c.450C>T (p.Ala150=)
|
|
|
|
NM_005477.3(HCN4):c.514C>T (p.Pro172Ser)
|
|
|
|
NM_005477.3(HCN4):c.76A>G (p.Met26Val)
|
|
|
|
NM_005502.4(ABCA1):c.*17G>A
|
|
|
|
NM_005502.4(ABCA1):c.1040A>G (p.Tyr347Cys)
|
|
|
|
NM_005502.4(ABCA1):c.1191T>C (p.Ala397=)
|
|
|
|
NM_005502.4(ABCA1):c.1302C>T (p.Asp434=)
|
rs372030899
|
|
|
NM_005502.4(ABCA1):c.1312-16C>T
|
|
|
|
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu)
|
rs148314522
|
|
|
NM_005502.4(ABCA1):c.1371T>A (p.Asp457Glu)
|
|
|
|
NM_005502.4(ABCA1):c.1945A>T (p.Ile649Phe)
|
|
|
|
NM_005502.4(ABCA1):c.2051G>A (p.Ser684Asn)
|
|
|
|
NM_005502.4(ABCA1):c.2068C>G (p.Leu690Val)
|
|
|
|
NM_005502.4(ABCA1):c.2116-16G>A
|
rs376099791
|
|
|
NM_005502.4(ABCA1):c.2604G>A (p.Glu868=)
|
rs1482520924
|
|
|
NM_005502.4(ABCA1):c.303-42_303-5dup
|
rs539194794
|
|
|
NM_005502.4(ABCA1):c.3048C>T (p.Ala1016=)
|
rs2118966484
|
|
|
NM_005502.4(ABCA1):c.3103+1G>C
|
|
|
|
NM_005502.4(ABCA1):c.3104-5dup
|
rs746119307
|
|
|
NM_005502.4(ABCA1):c.3215G>A (p.Trp1072Ter)
|
rs1450125094
|
|
|
NM_005502.4(ABCA1):c.3241+5C>T
|
|
|
|
NM_005502.4(ABCA1):c.336T>C (p.Leu112=)
|
|
|
|
NM_005502.4(ABCA1):c.3536-6C>T
|
|
|
|
NM_005502.4(ABCA1):c.3555C>A (p.Asn1185Lys)
|
|
|
|
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu)
|
rs763744498
|
|
|
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
|
|
|
|
NM_005502.4(ABCA1):c.3651C>A (p.Ala1217=)
|
|
|
|
NM_005502.4(ABCA1):c.3756C>T (p.Ala1252=)
|
|
|
|
NM_005502.4(ABCA1):c.3907A>G (p.Arg1303Gly)
|
|
|
|
NM_005502.4(ABCA1):c.4099A>G (p.Ile1367Val)
|
|
|
|
NM_005502.4(ABCA1):c.4295G>A (p.Gly1432Glu)
|
|
|
|
NM_005502.4(ABCA1):c.4464+12T>C
|
|
|
|
NM_005502.4(ABCA1):c.4559+12C>T
|
|
|
|
NM_005502.4(ABCA1):c.4640C>T (p.Pro1547Leu)
|
|
|
|
NM_005502.4(ABCA1):c.4698+14C>G
|
rs550787183
|
|
|
NM_005502.4(ABCA1):c.4774-17G>A
|
rs202067417
|
|
|
NM_005502.4(ABCA1):c.4808G>C (p.Ser1603Thr)
|
rs1030058509
|
|
|
NM_005502.4(ABCA1):c.4839T>C (p.Ile1613=)
|
|
|
|
NM_005502.4(ABCA1):c.5121+14C>T
|
|
|
|
NM_005502.4(ABCA1):c.5146C>G (p.Leu1716Val)
|
rs1829900481
|
|
|
NM_005502.4(ABCA1):c.5374A>G (p.Thr1792Ala)
|
rs1176498235
|
|
|
NM_005502.4(ABCA1):c.5383-20_5383-15dup
|
rs77663187
|
|
|
NM_005502.4(ABCA1):c.5383-20_5383-17dup
|
rs77663187
|
|
|
NM_005502.4(ABCA1):c.5383-20_5383-18dup
|
rs77663187
|
|
|
NM_005502.4(ABCA1):c.5383-20_5383-19dup
|
rs77663187
|
|
|
NM_005502.4(ABCA1):c.5383-3del
|
rs77663187
|
|
|
NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=)
|
rs141980942
|
|
|
NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)
|
|
|
|
NM_005502.4(ABCA1):c.5782G>T (p.Ala1928Ser)
|
|
|
|
NM_005502.4(ABCA1):c.6068A>C (p.Lys2023Thr)
|
|
|
|
NM_005502.4(ABCA1):c.6292G>A (p.Val2098Met)
|
|
|
|
NM_005502.4(ABCA1):c.6309-18C>T
|
|
|
|
NM_005502.4(ABCA1):c.6309-4G>A
|
rs199562704
|
|
|
NM_005502.4(ABCA1):c.655A>C (p.Arg219=)
|
|
|
|
NM_005502.4(ABCA1):c.721-10del
|
|
|
|
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
|
|
|
|
NM_005502.4(ABCA1):c.934C>T (p.Pro312Ser)
|
rs1183201615
|
|
|
NM_005529.7(HSPG2):c.12900-2A>G
|
|
|
|
NM_005535.3(IL12RB1):c.1217G>A (p.Gly406Glu)
|
rs199504990
|
|
|
NM_005548.3(KARS1):c.122_125del (p.Lys41fs)
|
|
|
|
NM_005559.4(LAMA1):c.1078del (p.Val360fs)
|
|
|
|
NM_005559.4(LAMA1):c.1189del (p.Cys397fs)
|
|
|
|
NM_005559.4(LAMA1):c.1873G>A (p.Gly625Ser)
|
|
|
|
NM_005559.4(LAMA1):c.2058G>T (p.Glu686Asp)
|
|
|
|
NM_005559.4(LAMA1):c.3319G>C (p.Gly1107Arg)
|
|
|
|
NM_005559.4(LAMA1):c.4025T>C (p.Val1342Ala)
|
|
|
|
NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)
|
|
|
|
NM_005559.4(LAMA1):c.4884C>A (p.Asn1628Lys)
|
|
|
|
NM_005559.4(LAMA1):c.7195+2T>A
|
|
|
|
NM_005559.4(LAMA1):c.768+5G>A
|
|
|
|
NM_005559.4(LAMA1):c.7779-13A>G
|
|
|
|
NM_005559.4(LAMA1):c.7970T>C (p.Leu2657Ser)
|
|
|
|
NM_005559.4(LAMA1):c.8711-17C>G
|
|
|
|
NM_005560.6(LAMA5):c.8356G>A (p.Gly2786Ser)
|
rs1986721762
|
|
|
NM_005560.6(LAMA5):c.8822C>T (p.Thr2941Met)
|
|
|
|
NM_005560.6(LAMA5):c.9967G>T (p.Ala3323Ser)
|
|
|
|
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)
|
rs118203899
|
|
|
NM_005562.3(LAMC2):c.1066+1G>T
|
rs1558092158
|
|
|
NM_005562.3(LAMC2):c.1468+5G>A
|
|
|
|
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs)
|
rs1553266871
|
|
|
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs)
|
rs778012079
|
|
|
NM_005562.3(LAMC2):c.2881C>T (p.Gln961Ter)
|
rs1660058817
|
|
|
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)
|
rs753268823
|
|
|
NM_005565.5(LCP2):c.928C>T (p.His310Tyr)
|
|
|
|
NM_005573.4(LMNB1):c.1160+6G>A
|
|
|
|
NM_005573.4(LMNB1):c.43G>A (p.Ala15Thr)
|
|
|
|
NM_005573.4(LMNB1):c.506A>G (p.Gln169Arg)
|
|
|
|
NM_005585.5(SMAD6):c.120C>A (p.Gly40=)
|
rs149612008
|
|
|
NM_005585.5(SMAD6):c.120C>T (p.Gly40=)
|
rs149612008
|
|
|
NM_005585.5(SMAD6):c.1419dup (p.Pro474fs)
|
rs1894573824
|
|
|
NM_005585.5(SMAD6):c.264C>G (p.Gly88=)
|
rs547033777
|
|
|
NM_005585.5(SMAD6):c.627G>A (p.Pro209=)
|
|
|
|
NM_005585.5(SMAD6):c.710A>G (p.His237Arg)
|
|
|
|
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del)
|
rs769605183
|
|
|
NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
|
|
|
|
NM_005585.5(SMAD6):c.952+13del
|
rs761315842
|
|
|
NM_005591.4(MRE11):c.1090C>A (p.Arg364=)
|
rs371077728
|
|
|
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)
|
rs371077728
|
|
|
NM_005591.4(MRE11):c.1098+17T>C
|
rs1805365
|
|
|
NM_005591.4(MRE11):c.1151A>T (p.Lys384Ile)
|
rs1193534253
|
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
|
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe)
|
rs73517551
|
|
|
NM_005591.4(MRE11):c.2007A>G (p.Thr669=)
|
rs1554999945
|
|
|
NM_005591.4(MRE11):c.2021T>A (p.Ile674Asn)
|
rs1591633964
|
|
|
NM_005591.4(MRE11):c.235T>C (p.Leu79=)
|
rs745332888
|
|
|
NM_005591.4(MRE11):c.314+6T>C
|
rs864622413
|
|
|
NM_005591.4(MRE11):c.315-14dup
|
rs35062043
|
|
|
NM_005591.4(MRE11):c.315-4del
|
rs35062043
|
|
|
NM_005591.4(MRE11):c.37T>A (p.Phe13Ile)
|
rs149101834
|
|
|
NM_005591.4(MRE11):c.402+7_402+9del
|
|
|
|
NM_005591.4(MRE11):c.52_54del (p.Ala18del)
|
rs876658216
|
|
|
NM_005591.4(MRE11):c.562A>G (p.Arg188Gly)
|
rs1946857150
|
|
|
NM_005591.4(MRE11):c.573A>C (p.Arg191=)
|
rs1555014571
|
|
|
NM_005591.4(MRE11):c.660-7G>T
|
rs761857022
|
|
|
NM_005591.4(MRE11):c.986C>G (p.Thr329Ser)
|
rs370645480
|
|
|
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
|
|
|
|
NM_005592.4(MUSK):c.207-16T>C
|
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
|
NM_005609.4(PYGM):c.1058T>A (p.Ile353Asn)
|
|
|
|
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile)
|
rs1555134900
|
|
|
NM_005609.4(PYGM):c.1624A>G (p.Asn542Asp)
|
rs2135830822
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
|
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys)
|
rs1413461008
|
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
|
NM_005609.4(PYGM):c.2038A>G (p.Met680Val)
|
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
|
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)
|
rs773361937
|
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
|
NM_005609.4(PYGM):c.2312+19G>A
|
|
|
|
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)
|
rs119103258
|
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
|
NM_005609.4(PYGM):c.244-19C>T
|
|
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
|
NM_005612.5(REST):c.613A>C (p.Thr205Pro)
|
|
|
|
NM_005618.4(DLL1):c.1085T>G (p.Ile362Ser)
|
|
|
|
NM_005618.4(DLL1):c.515A>G (p.Lys172Arg)
|
|
|
|
NM_005618.4(DLL1):c.845dup (p.Leu283fs)
|
rs760008381
|
|
|
NM_005619.5(RTN2):c.1381-5C>T
|
|
|
|
NM_005619.5(RTN2):c.938dup (p.Thr314fs)
|
rs748397131
|
|
|
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs)
|
rs2148358474
|
|
|
NM_005629.4(SLC6A8):c.115G>A (p.Gly39Ser)
|
|
|
|
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)
|
rs80338740
|
|
|
NM_005629.4(SLC6A8):c.1254+1G>A
|
rs1557045333
|
|
|
NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter)
|
|
|
|
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)
|
rs397515558
|
|
|
NM_005629.4(SLC6A8):c.645-19A>G
|
rs2148361615
|
|
|
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
|
|
|
|
NM_005629.4(SLC6A8):c.912+6G>C
|
|
|
|
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs)
|
rs2148358457
|
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
|
NM_005633.4(SOS1):c.1063G>A (p.Glu355Lys)
|
rs1670303340
|
|
|
NM_005633.4(SOS1):c.1199T>G (p.Leu400Arg)
|
|
|
|
NM_005633.4(SOS1):c.1251_1347dup (p.Leu450delinsSerAsnGlnGluAspGluArgAspSerGluGluTyrTer)
|
rs1669848601
|
|
|
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)
|
rs138459502
|
|
|
NM_005633.4(SOS1):c.1271_1345dup (p.Gly448_Thr449insLysIleGlnLysAsnIleAspGlyTrpGluGlyLysAspIleGlyGlnCysCysAsnGluPheIleMetGluGly)
|
rs1669848769
|
|
|
NM_005633.4(SOS1):c.1288G>A (p.Asp430Asn)
|
|
|
|
NM_005633.4(SOS1):c.1293T>C (p.Gly431=)
|
|
|
|
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)
|
rs267607080
|
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
|
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)
|
rs727504295
|
|
|
NM_005633.4(SOS1):c.1352C>G (p.Thr451Arg)
|
rs730880218
|
|
|
NM_005633.4(SOS1):c.1370A>G (p.His457Arg)
|
rs1060503524
|
|
|
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
|
|
|
|
NM_005633.4(SOS1):c.1412G>T (p.Cys471Phe)
|
|
|
|
NM_005633.4(SOS1):c.1454A>G (p.Asn485Ser)
|
rs140671910
|
|
|
NM_005633.4(SOS1):c.1499A>C (p.Gln500Pro)
|
rs2124537167
|
|
|
NM_005633.4(SOS1):c.1600A>G (p.Lys534Glu)
|
rs1669840891
|
|
|
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys)
|
rs730881046
|
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
|
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
|
rs267607079
|
|
|
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)
|
rs267607079
|
|
|
NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys)
|
rs1386900583
|
|
|
NM_005633.4(SOS1):c.1759A>G (p.Ile587Val)
|
|
|
|
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)
|
rs727505093
|
|
|
NM_005633.4(SOS1):c.1940+18A>T
|
rs1669577494
|
|
|
NM_005633.4(SOS1):c.1954G>C (p.Glu652Gln)
|
rs1408868952
|
|
|
NM_005633.4(SOS1):c.2045T>C (p.Ile682Thr)
|
|
|
|
NM_005633.4(SOS1):c.2057A>G (p.Gln686Arg)
|
|
|
|
NM_005633.4(SOS1):c.2127T>C (p.Tyr709=)
|
rs1340535048
|
|
|
NM_005633.4(SOS1):c.214-12C>T
|
rs2124610999
|
|
|
NM_005633.4(SOS1):c.214-18A>T
|
|
|
|
NM_005633.4(SOS1):c.2167+16del
|
rs79984786
|
|
|
NM_005633.4(SOS1):c.2168G>T (p.Gly723Val)
|
|
|
|
NM_005633.4(SOS1):c.2180A>G (p.Lys727Arg)
|
rs1669496540
|
|
|
NM_005633.4(SOS1):c.2188G>T (p.Val730Phe)
|
rs1558469016
|
|
|
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)
|
rs574088829
|
|
|
NM_005633.4(SOS1):c.2227G>A (p.Ala743Thr)
|
|
|
|
NM_005633.4(SOS1):c.2265_2355dup (p.Arg786delinsGluPheThrSerHisSerTer)
|
rs1669491885
|
|
|
NM_005633.4(SOS1):c.2405C>T (p.Ser802Leu)
|
|
|
|
NM_005633.4(SOS1):c.2490C>A (p.Asn830Lys)
|
rs730881029
|
|
|
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)
|
rs397517159
|
|
|
NM_005633.4(SOS1):c.2674-9T>C
|
|
|
|
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
|
|
|
|
NM_005633.4(SOS1):c.2788T>A (p.Phe930Ile)
|
rs1558465734
|
|
|
NM_005633.4(SOS1):c.2791+19A>C
|
|
|
|
NM_005633.4(SOS1):c.2791+7_2791+10del
|
rs760707217
|
|
|
NM_005633.4(SOS1):c.2792-4C>G
|
|
|
|
NM_005633.4(SOS1):c.2811C>T (p.Ile937=)
|
rs1668929693
|
|
|
NM_005633.4(SOS1):c.2864_2944dup (p.Leu955_Leu981dup)
|
rs1668926020
|
|
|
NM_005633.4(SOS1):c.3136A>C (p.Arg1046=)
|
rs1668859268
|
|
|
NM_005633.4(SOS1):c.3195T>C (p.Tyr1065=)
|
rs1280224224
|
|
|
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)
|
rs397517164
|
|
|
NM_005633.4(SOS1):c.3256C>T (p.Pro1086Ser)
|
rs1057517892
|
|
|
NM_005633.4(SOS1):c.3319T>G (p.Ser1107Ala)
|
|
|
|
NM_005633.4(SOS1):c.3321C>T (p.Ser1107=)
|
|
|
|
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)
|
rs199856844
|
|
|
NM_005633.4(SOS1):c.3391+3_3391+6del
|
rs756201866
|
|
|
NM_005633.4(SOS1):c.3406T>A (p.Ser1136Thr)
|
rs2124458840
|
|
|
NM_005633.4(SOS1):c.3415A>G (p.Ser1139Gly)
|
rs1668593642
|
|
|
NM_005633.4(SOS1):c.348G>A (p.Glu116=)
|
rs1671231096
|
|
|
NM_005633.4(SOS1):c.34A>G (p.Ser12Gly)
|
|
|
|
NM_005633.4(SOS1):c.3580C>T (p.Pro1194Ser)
|
|
|
|
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
|
rs752395541
|
|
|
NM_005633.4(SOS1):c.360T>C (p.Tyr120=)
|
|
|
|
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met)
|
rs776814547
|
|
|
NM_005633.4(SOS1):c.3658G>T (p.Val1220Leu)
|
rs776814547
|
|
|
NM_005633.4(SOS1):c.3696T>G (p.His1232Gln)
|
|
|
|
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)
|
rs371408734
|
|
|
NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly)
|
rs1293079271
|
|
|
NM_005633.4(SOS1):c.375G>A (p.Gln125=)
|
rs1400246247
|
|
|
NM_005633.4(SOS1):c.3857C>G (p.Ser1286Cys)
|
rs374341202
|
|
|
NM_005633.4(SOS1):c.3876T>C (p.Val1292=)
|
rs1423591930
|
|
|
NM_005633.4(SOS1):c.38_46del (p.Glu13_Asn15del)
|
|
|
|
NM_005633.4(SOS1):c.396A>G (p.Ala132=)
|
rs727505385
|
|
|
NM_005633.4(SOS1):c.440A>T (p.Asn147Ile)
|
|
|
|
NM_005633.4(SOS1):c.483T>C (p.Asp161=)
|
rs1553362598
|
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
|
NM_005633.4(SOS1):c.510+10T>A
|
rs1553362584
|
|
|
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu)
|
rs889231089
|
|
|
NM_005633.4(SOS1):c.706T>C (p.Leu236=)
|
rs1418372765
|
|
|
NM_005633.4(SOS1):c.720T>C (p.Asn240=)
|
rs779699814
|
|
|
NM_005633.4(SOS1):c.743G>A (p.Arg248His)
|
|
|
|
NM_005633.4(SOS1):c.788T>C (p.Ile263Thr)
|
rs1310500908
|
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
|
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
|
rs137852813
|
|
|
NM_005633.4(SOS1):c.87+6G>T
|
rs777383378
|
|
|
NM_005634.3(SOX3):c.1029C>G (p.Ala343=)
|
|
|
|
NM_005634.3(SOX3):c.292G>A (p.Gly98Ser)
|
|
|
|
NM_005634.3(SOX3):c.588C>T (p.Arg196=)
|
rs2148334684
|
|
|
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg)
|
rs1753210329
|
|
|
NM_005660.3(SLC35A2):c.1163+54del
|
|
|
|
NM_005660.3(SLC35A2):c.426+74G>A
|
|
|
|
NM_005666.4(CFHR2):c.114A>G (p.Lys38=)
|
|
|
|
NM_005666.4(CFHR2):c.206G>T (p.Arg69Leu)
|
|
|
|
NM_005666.4(CFHR2):c.59-12T>C
|
|
|
|
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)
|
|
|
|
NM_005676.5(RBM10):c.2668-11C>T
|
|
|
|
NM_005676.5(RBM10):c.331C>T (p.Gln111Ter)
|
|
|
|
NM_005677.4(COLQ):c.1082del (p.Pro361fs)
|
rs769982050
|
|
|
NM_005677.4(COLQ):c.1298+3A>G
|
rs1384843815
|
|
|
NM_005677.4(COLQ):c.393+1G>A
|
rs1085307792
|
|
|
NM_005677.4(COLQ):c.700G>T (p.Gly234Ter)
|
rs2062264317
|
|
|
NM_005677.4(COLQ):c.870_871del (p.Cys291fs)
|
|
|
|
NM_005685.4(GTF2IRD1):c.646G>T (p.Glu216Ter)
|
|
|
|
NM_005726.6(TSFM):c.551del (p.Asp184fs)
|
|
|
|
NM_005732.4(RAD50):c.1052-6del
|
rs201800554
|
|
|
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
|
rs1554098250
|
|
|
NM_005732.4(RAD50):c.1287A>G (p.Ile429Met)
|
rs1554098314
|
|
|
NM_005732.4(RAD50):c.1311T>C (p.Thr437=)
|
rs786202706
|
|
|
NM_005732.4(RAD50):c.1636-9del
|
rs762814289
|
|
|
NM_005732.4(RAD50):c.1689A>G (p.Leu563=)
|
rs1580994836
|
|
|
NM_005732.4(RAD50):c.1722dup (p.Gln575fs)
|
rs587782543
|
|
|
NM_005732.4(RAD50):c.1794-9T>C
|
rs1060504397
|
|
|
NM_005732.4(RAD50):c.1875C>T (p.Tyr625=)
|
rs149201802
|
|
|
NM_005732.4(RAD50):c.1930A>G (p.Arg644Gly)
|
rs876659631
|
|
|
NM_005732.4(RAD50):c.2655G>A (p.Gln885=)
|
rs1554099195
|
|
|
NM_005732.4(RAD50):c.2693T>G (p.Val898Gly)
|
rs1750958706
|
|
|
NM_005732.4(RAD50):c.2829+7T>C
|
|
|
|
NM_005732.4(RAD50):c.2923-5dup
|
rs2066742
|
|
|
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter)
|
rs876660364
|
|
|
NM_005732.4(RAD50):c.3390-10C>T
|
rs1751595393
|
|
|
NM_005732.4(RAD50):c.3390-5T>C
|
rs1561658734
|
|
|
NM_005732.4(RAD50):c.3476-18TTC[2]
|
rs730881922
|
|
|
NM_005732.4(RAD50):c.36G>A (p.Val12=)
|
rs1580974379
|
|
|
NM_005732.4(RAD50):c.3841_3859del (p.Glu1281fs)
|
rs1561661862
|
|
|
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup)
|
rs765370709
|
|
|
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys)
|
rs753136372
|
|
|
NM_005732.4(RAD50):c.677A>C (p.Gln226Pro)
|
rs1060501953
|
|
|
NM_005732.4(RAD50):c.699G>T (p.Gln233His)
|
rs755911947
|
|
|
NM_005732.4(RAD50):c.756+7del
|
rs377720482
|
|
|
NM_005732.4(RAD50):c.973T>C (p.Cys325Arg)
|
rs863224744
|
|
|
NM_005739.4(RASGRP1):c.3G>A (p.Met1Ile)
|
rs1269034575
|
|
|
NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr)
|
rs367598698
|
|
|
NM_005751.5(AKAP9):c.11098-5T>C
|
|
|
|
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile)
|
rs143306820
|
|
|
NM_005751.5(AKAP9):c.11283C>G (p.Gly3761=)
|
rs1817790066
|
|
|
NM_005751.5(AKAP9):c.11546+19C>T
|
rs1818692330
|
|
|
NM_005751.5(AKAP9):c.3291_3294del (p.Lys1097fs)
|
|
|
|
NM_005751.5(AKAP9):c.3493C>T (p.His1165Tyr)
|
|
|
|
NM_005751.5(AKAP9):c.3709A>G (p.Asn1237Asp)
|
rs1177942191
|
|
|
NM_005751.5(AKAP9):c.4528T>G (p.Phe1510Val)
|
rs1206384770
|
|
|
NM_005751.5(AKAP9):c.4665A>C (p.Lys1555Asn)
|
rs1805572997
|
|
|
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del)
|
rs771190405
|
|
|
NM_005751.5(AKAP9):c.6330+4A>G
|
rs1460275329
|
|
|
NM_005751.5(AKAP9):c.6455G>A (p.Arg2152Lys)
|
|
|
|
NM_005751.5(AKAP9):c.6893A>G (p.Asn2298Ser)
|
rs1812855960
|
|
|
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn)
|
rs150968594
|
|
|
NM_005751.5(AKAP9):c.7811T>C (p.Leu2604Ser)
|
rs1563104824
|
|
|
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del)
|
rs786205262
|
|
|
NM_005751.5(AKAP9):c.8850C>T (p.Val2950=)
|
rs1814382203
|
|
|
NM_005763.4(AASS):c.904dup (p.Tyr302fs)
|
|
|
|
NM_005765.3(ATP6AP2):c.-70C>T
|
rs2146534430
|
|
|
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg)
|
rs119103237
|
|
|
NM_005802.5(TOPORS):c.29C>A (p.Pro10Gln)
|
rs777171069
|
|
|
NM_005811.5(GDF11):c.379G>A (p.Glu127Lys)
|
|
|
|
NM_005816.5(CD96):c.706G>A (p.Gly236Ser)
|
|
|
|
NM_005850.5(SF3B4):c.400C>T (p.Arg134Trp)
|
|
|
|
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del)
|
rs1184201512
|
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
|
NM_005861.4(STUB1):c.143G>A (p.Cys48Tyr)
|
|
|
|
NM_005861.4(STUB1):c.535G>A (p.Glu179Lys)
|
|
|
|
NM_005862.3(STAG1):c.1067G>C (p.Ser356Thr)
|
rs140171002
|
|
|
NM_005862.3(STAG1):c.1918T>C (p.Tyr640His)
|
|
|
|
NM_005862.3(STAG1):c.2371-8T>C
|
|
|
|
NM_005862.3(STAG1):c.2423C>T (p.Thr808Ile)
|
|
|
|
NM_005862.3(STAG1):c.2557dup (p.Glu853fs)
|
rs1560062082
|
|
|
NM_005862.3(STAG1):c.776T>C (p.Ile259Thr)
|
|
|
|
NM_005876.5(SPEG):c.6894G>A (p.Gly2298=)
|
|
|
|
NM_005883.3(APC2):c.1760A>G (p.Tyr587Cys)
|
|
|
|
NM_005883.3(APC2):c.2383G>A (p.Glu795Lys)
|
|
|
|
NM_005883.3(APC2):c.3035G>A (p.Gly1012Asp)
|
|
|
|
NM_005883.3(APC2):c.4076C>T (p.Ala1359Val)
|
|
|
|
NM_005883.3(APC2):c.4163C>T (p.Ser1388Phe)
|
|
|
|
NM_005883.3(APC2):c.6551G>C (p.Arg2184Pro)
|
|
|
|
NM_005883.3(APC2):c.93C>G (p.Asp31Glu)
|
|
|
|
NM_005891.3(ACAT2):c.490+12A>G
|
|
|
|
NM_005898.5(CAPRIN1):c.989A>G (p.Gln330Arg)
|
|
|
|
NM_005901.6(SMAD2):c.1135+6G>C
|
|
|
|
NM_005901.6(SMAD2):c.27G>A (p.Pro9=)
|
rs546743584
|
|
|
NM_005901.6(SMAD2):c.521-16del
|
rs143256118
|
|
|
NM_005901.6(SMAD2):c.660G>A (p.Thr220=)
|
|
|
|
NM_005901.6(SMAD2):c.730+3dup
|
rs149135973
|
|
|
NM_005901.6(SMAD2):c.785-18dup
|
rs755626653
|
|
|
NM_005901.6(SMAD2):c.999A>G (p.Gly333=)
|
|
|
|
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
|
|
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
|
NM_005902.4(SMAD3):c.45G>C (p.Leu15=)
|
|
|
|
NM_005902.4(SMAD3):c.532+1G>C
|
rs2140295070
|
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
|
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter)
|
rs1566999458
|
|
|
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln)
|
rs886038991
|
|
|
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp)
|
rs1555414011
|
|
|
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)
|
rs967072552
|
|
|
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter)
|
rs1208178394
|
|
|
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs)
|
rs1188116333
|
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
|
|
|
NM_005908.4(MANBA):c.1887T>C (p.Cys629=)
|
rs2110193592
|
|
|
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)
|
rs2866413
|
|
|
NM_005908.4(MANBA):c.2175dup (p.Ser726fs)
|
rs771465504
|
|
|
NM_005908.4(MANBA):c.2221A>G (p.Met741Val)
|
rs1418716363
|
|
|
NM_005908.4(MANBA):c.2416-10del
|
rs5860729
|
|
|
NM_005908.4(MANBA):c.2483_2486del (p.Val828fs)
|
|
|
|
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
|
rs749997217
|
|
|
NM_005908.4(MANBA):c.273-1G>A
|
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
|
|
|
NM_005909.5(MAP1B):c.1573G>A (p.Val525Met)
|
|
|
|
NM_005909.5(MAP1B):c.1844C>T (p.Pro615Leu)
|
|
|
|
NM_005909.5(MAP1B):c.3264G>A (p.Glu1088=)
|
|
|
|
NM_005909.5(MAP1B):c.3362dup (p.Ser1122fs)
|
|
|
|
NM_005909.5(MAP1B):c.3745G>A (p.Glu1249Lys)
|
|
|
|
NM_005911.6(MAT2A):c.405+20G>A
|
|
|
|
NM_005912.3(MC4R):c.538T>C (p.Ser180Pro)
|
rs193922685
|
|
|
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)
|
rs193922687
|
|
|
NM_005932.4(MIPEP):c.1848+2T>G
|
|
|
|
NM_005932.4(MIPEP):c.890G>T (p.Gly297Val)
|
|
|
|
NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter)
|
rs920392170
|
|
|
NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)
|
|
|
|
NM_005956.4(MTHFD1):c.240+6C>A
|
|
|
|
NM_005956.4(MTHFD1):c.2529del (p.Glu844fs)
|
rs2140987866
|
|
|
NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)
|
|
|
|
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
|
|
|
|
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)
|
rs769381688
|
|
|
NM_005957.5(MTHFR):c.643_645del (p.Lys215del)
|
rs746353274
|
|
|
NM_005981.5(TSPAN31):c.*2217A>G
|
rs1565805871
|
|
|
NM_005981.5(TSPAN31):c.*2222G>T
|
rs536249985
|
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
|
NM_005982.4(SIX1):c.597G>A (p.Lys199=)
|
|
|
|
NM_005984.5(SLC25A1):c.190T>G (p.Tyr64Asp)
|
rs2084000148
|
|
|
NM_005993.4(TBCD):c.1150_1171del
|
rs751754677
|
|
|
NM_005993.5(TBCD):c.1126G>A (p.Val376Met)
|
rs183349235
|
|
|
NM_005993.5(TBCD):c.2261-15G>A
|
|
|
|
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp)
|
rs2062710977
|
|
|
NM_005994.4(TBX2):c.131C>A (p.Pro44Gln)
|
|
|
|
NM_005994.4(TBX2):c.1966C>T (p.Pro656Ser)
|
|
|
|
NM_005996.4(TBX3):c.1616C>A (p.Thr539Lys)
|
rs757023811
|
|
|
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
|
|
|
|
NM_006005.3(WFS1):c.1381_1383del (p.Thr461del)
|
|
|
|
NM_006005.3(WFS1):c.1630T>A (p.Ser544Thr)
|
|
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
|
NM_006005.3(WFS1):c.2098T>A (p.Trp700Arg)
|
|
|
|
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter)
|
rs71530911
|
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
|
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)
|
rs1064794257
|
|
|
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg)
|
rs1942164218
|
|
|
NM_006009.4(TUBA1A):c.1225G>T (p.Val409Phe)
|
|
|
|
NM_006009.4(TUBA1A):c.637_640del (p.Cys213fs)
|
|
|
|
NM_006009.4(TUBA1A):c.828C>A (p.Ile276=)
|
|
|
|
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser)
|
rs1942169629
|
|
|
NM_006012.4(CLPP):c.533A>G (p.His178Arg)
|
|
|
|
NM_006015.6(ARID1A):c.1357C>T (p.Pro453Ser)
|
|
|
|
NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)
|
|
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
|
NM_006015.6(ARID1A):c.4078A>G (p.Thr1360Ala)
|
rs375202405
|
|
|
NM_006015.6(ARID1A):c.4894C>G (p.Pro1632Ala)
|
|
|
|
NM_006015.6(ARID1A):c.943G>A (p.Asp315Asn)
|
rs2080280611
|
|
|
NM_006016.6(CD164):c.-12G>A
|
|
|
|
NM_006016.6(CD164):c.175+689C>G
|
|
|
|
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)
|
rs1159666762
|
|
|
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)
|
rs776436008
|
|
|
NM_006019.4(TCIRG1):c.504-6C>A
|
rs1028394725
|
|
|
NM_006030.4(CACNA2D2):c.3203C>T (p.Thr1068Met)
|
rs772333671
|
|
|
NM_006031.6(PCNT):c.9393+1G>A
|
|
|
|
NM_006035.4(CDC42BPB):c.1539C>G (p.Asp513Glu)
|
|
|
|
NM_006035.4(CDC42BPB):c.3310-5C>T
|
|
|
|
NM_006035.4(CDC42BPB):c.4592-17G>A
|
|
|
|
NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs)
|
|
|
|
NM_006059.4(LAMC3):c.1018C>T (p.Arg340Trp)
|
rs146887458
|
|
|
NM_006059.4(LAMC3):c.2819del (p.Pro940fs)
|
rs1170064033
|
|
|
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn)
|
rs2873479
|
|
|
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser)
|
rs2873479
|
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
|
NM_006073.4(TRDN):c.1598-6dup
|
rs147062785
|
|
|
NM_006073.4(TRDN):c.185C>T (p.Ala62Val)
|
|
|
|
NM_006073.4(TRDN):c.196G>A (p.Val66Ile)
|
rs372169818
|
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
|
NM_006073.4(TRDN):c.550+1_550+2insA
|
|
|
|
NM_006078.5(CACNG2):c.815C>T (p.Thr272Met)
|
rs759983832
|
|
|
NM_006079.5(CITED2):c.28C>T (p.His10Tyr)
|
|
|
|
NM_006079.5(CITED2):c.777C>T (p.Phe259=)
|
|
|
|
NM_006086.4(TUBB3):c.1267C>T (p.Gln423Ter)
|
rs2151093129
|
|
|
NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)
|
|
|
|
NM_006086.4(TUBB3):c.467G>A (p.Arg156His)
|
|
|
|
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)
|
rs886041459
|
|
|
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)
|
rs1057521924
|
|
|
NM_006086.4(TUBB3):c.95C>G (p.Pro32Arg)
|
|
|
|
NM_006087.4(TUBB4A):c.523G>A (p.Val175Met)
|
|
|
|
NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser)
|
rs886041007
|
|
|
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)
|
rs886039470
|
|
|
NM_006087.4(TUBB4A):c.900G>A (p.Met300Ile)
|
|
|
|
NM_006096.4(NDRG1):c.964C>T (p.Arg322Cys)
|
rs368404338
|
|
|
NM_006118.4(HAX1):c.556+1G>A
|
|
|
|
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
|
|
|
|
NM_006129.5(BMP1):c.1757G>A (p.Arg586His)
|
|
|
|
NM_006129.5(BMP1):c.2350C>G (p.Arg784Gly)
|
rs202128760
|
|
|
NM_006129.5(BMP1):c.433+15G>A
|
|
|
|
NM_006129.5(BMP1):c.584del (p.Gly195fs)
|
|
|
|
NM_006147.4(IRF6):c.632A>C (p.Tyr211Ser)
|
|
|
|
NM_006164.5(NFE2L2):c.1193A>C (p.His398Pro)
|
|
|
|
NM_006164.5(NFE2L2):c.941A>G (p.Asn314Ser)
|
|
|
|
NM_006172.4(NPPA):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_006172.4(NPPA):c.426C>T (p.Ser142=)
|
rs747448548
|
|
|
NM_006180.6(NTRK2):c.1937+10G>A
|
|
|
|
NM_006180.6(NTRK2):c.208G>A (p.Glu70Lys)
|
|
|
|
NM_006182.4(DDR2):c.1421T>C (p.Ile474Thr)
|
|
|
|
NM_006182.4(DDR2):c.779G>A (p.Arg260Gln)
|
|
|
|
NM_006186.4(NR4A2):c.1159-3C>T
|
|
|
|
NM_006208.3(ENPP1):c.1635+16A>G
|
|
|
|
NM_006208.3(ENPP1):c.2230+18C>G
|
|
|
|
NM_006214.4(PHYH):c.668C>G (p.Pro223Arg)
|
|
|
|
NM_006214.4(PHYH):c.973A>G (p.Met325Val)
|
rs145020360
|
|
|
NM_006218.4(PIK3CA):c.1059+8C>T
|
|
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)
|
rs1724342112
|
|
|
NM_006218.4(PIK3CA):c.317G>A (p.Gly106Asp)
|
rs1057519930
|
|
|
NM_006231.4(POLE):c.1016A>T (p.Asp339Val)
|
rs1060500865
|
|
|
NM_006231.4(POLE):c.1231G>C (p.Val411Leu)
|
rs1057519945
|
|
|
NM_006231.4(POLE):c.1231G>T (p.Val411Leu)
|
rs1057519945
|
|
|
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)
|
rs483352909
|
|
|
NM_006231.4(POLE):c.1306C>T (p.Pro436Ser)
|
rs1565973210
|
|
|
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr)
|
rs1555228573
|
|
|
NM_006231.4(POLE):c.1440T>C (p.Ala480=)
|
rs1248513702
|
|
|
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser)
|
rs979085449
|
|
|
NM_006231.4(POLE):c.1920G>A (p.Leu640=)
|
|
|
|
NM_006231.4(POLE):c.1924-23_1927del
|
rs1064795679
|
|
|
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)
|
rs5744799
|
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
|
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)
|
rs5744800
|
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
|
NM_006231.4(POLE):c.2236A>G (p.Ile746Val)
|
rs1480527153
|
|
|
NM_006231.4(POLE):c.2935C>A (p.Leu979Met)
|
|
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
|
NM_006231.4(POLE):c.3990G>T (p.Pro1330=)
|
rs777546371
|
|
|
NM_006231.4(POLE):c.4157G>A (p.Arg1386Gln)
|
rs969355093
|
|
|
NM_006231.4(POLE):c.423+82A>G
|
|
|
|
NM_006231.4(POLE):c.4249G>C (p.Glu1417Gln)
|
rs1593735965
|
|
|
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)
|
rs766511597
|
|
|
NM_006231.4(POLE):c.4529_4530inv (p.Ala1510Val)
|
|
|
|
NM_006231.4(POLE):c.4552-10G>T
|
rs5744946
|
|
|
NM_006231.4(POLE):c.5354C>T (p.Thr1785Ile)
|
rs1269441689
|
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
|
NM_006231.4(POLE):c.5590A>T (p.Ile1864Phe)
|
rs2042070838
|
|
|
NM_006231.4(POLE):c.5972C>G (p.Ser1991Cys)
|
rs1593711899
|
|
|
NM_006231.4(POLE):c.62+5G>C
|
rs1037695225
|
|
|
NM_006231.4(POLE):c.6208A>G (p.Ile2070Val)
|
rs763607284
|
|
|
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)
|
rs373443211
|
|
|
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs)
|
rs774417192
|
|
|
NM_006231.4(POLE):c.6765C>T (p.Ile2255=)
|
rs376336585
|
|
|
NM_006231.4(POLE):c.6843C>T (p.Asn2281=)
|
rs1166482142
|
|
|
NM_006245.4(PPP2R5D):c.1718C>T (p.Ser573Leu)
|
|
|
|
NM_006245.4(PPP2R5D):c.278A>T (p.Asn93Ile)
|
|
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
|
NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT
|
rs146504019
|
|
|
NM_006258.4(PRKG1):c.514T>C (p.Leu172=)
|
|
|
|
NM_006258.4(PRKG1):c.546G>A (p.Gly182=)
|
rs73336216
|
|
|
NM_006258.4(PRKG1):c.642A>G (p.Thr214=)
|
rs370640208
|
|
|
NM_006258.4(PRKG1):c.763-15G>T
|
rs1904010
|
|
|
NM_006261.5(PROP1):c.114G>C (p.Ser38=)
|
rs373656666
|
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
|
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)
|
rs140016178
|
|
|
NM_006265.3(RAD21):c.1252A>C (p.Lys418Gln)
|
rs1812375108
|
|
|
NM_006267.5(RANBP2):c.1282C>T (p.Arg428Ter)
|
|
|
|
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu)
|
rs142454773
|
|
|
NM_006267.5(RANBP2):c.737C>G (p.Thr246Arg)
|
rs770986482
|
|
|
NM_006267.5(RANBP2):c.7625G>T (p.Gly2542Val)
|
rs1677244353
|
|
|
NM_006270.5(RRAS):c.*5G>A
|
|
|
|
NM_006270.5(RRAS):c.344+6del
|
rs1482812198
|
|
|
NM_006270.5(RRAS):c.345-2A>C
|
rs2080998112
|
|
|
NM_006270.5(RRAS):c.355G>A (p.Val119Met)
|
|
|
|
NM_006270.5(RRAS):c.423del (p.Asn142fs)
|
rs775018539
|
|
|
NM_006270.5(RRAS):c.454-13C>T
|
|
|
|
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)
|
rs760978291
|
|
|
NM_006270.5(RRAS):c.54A>T (p.Gly18=)
|
rs571103858
|
|
|
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)
|
rs374621936
|
|
|
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
|
|
|
|
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
|
rs759803129
|
|
|
NM_006280.3(SSR4):c.257A>T (p.Tyr86Phe)
|
|
|
|
NM_006280.3(SSR4):c.480C>G (p.Ile160Met)
|
|
|
|
NM_006282.5(STK4):c.395C>A (p.Ser132Ter)
|
|
|
|
NM_006282.5(STK4):c.831+2T>C
|
|
|
|
NM_006295.3(VARS1):c.1467+19C>T
|
|
|
|
NM_006295.3(VARS1):c.2169G>C (p.Arg723Ser)
|
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
|
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del)
|
|
|
|
NM_006306.4(SMC1A):c.88A>G (p.Ile30Val)
|
|
|
|
NM_006329.4(FBLN5):c.1226C>T (p.Pro409Leu)
|
|
|
|
NM_006346.4(PIBF1):c.1731-1G>A
|
|
|
|
NM_006348.5(COG5):c.1686G>T (p.Lys562Asn)
|
|
|
|
NM_006348.5(COG5):c.30_36del (p.Ala11fs)
|
rs2129184409
|
|
|
NM_006361.6(HOXB13):c.366C>T (p.Ser122=)
|
rs8556
|
|
|
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?)
|
rs77179853
|
|
|
NM_006361.6(HOXB13):c.86C>T (p.Ala29Val)
|
|
|
|
NM_006363.6(SEC23B):c.1254T>G (p.Ile418Met)
|
|
|
|
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter)
|
rs137853939
|
|
|
NM_006371.5(CRTAP):c.3G>A (p.Met1Ile)
|
rs72659357
|
|
|
NM_006371.5(CRTAP):c.41_59dup (p.Leu21fs)
|
|
|
|
NM_006383.4(CIB2):c.276G>A (p.Val92=)
|
|
|
|
NM_006390.4(IPO8):c.1756-5C>G
|
|
|
|
NM_006393.3(NEBL):c.1008+18C>T
|
rs75903914
|
|
|
NM_006393.3(NEBL):c.1008+4_1008+5inv
|
|
|
|
NM_006393.3(NEBL):c.1037del (p.Asn346fs)
|
rs767349615
|
|
|
NM_006393.3(NEBL):c.1339-11G>A
|
|
|
|
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala)
|
rs751607557
|
|
|
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
|
|
|
|
NM_006393.3(NEBL):c.342A>G (p.Ala114=)
|
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
|
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly)
|
rs76436818
|
|
|
NM_006412.4(AGPAT2):c.835T>C (p.Ter279Gln)
|
|
|
|
NM_006415.4(SPTLC1):c.1082-7delinsAT
|
|
|
|
NM_006415.4(SPTLC1):c.690+1G>A
|
|
|
|
NM_006421.5(ARFGEF1):c.1031T>C (p.Met344Thr)
|
|
|
|
NM_006421.5(ARFGEF1):c.1303A>G (p.Met435Val)
|
|
|
|
NM_006421.5(ARFGEF1):c.1338-20_1338-18dup
|
|
|
|
NM_006421.5(ARFGEF1):c.3212G>A (p.Gly1071Glu)
|
|
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
|
NM_006432.5(NPC2):c.3G>C (p.Met1Ile)
|
rs483352893
|
|
|
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)
|
rs104894457
|
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
|
NM_006493.4(CLN5):c.174-2A>G
|
rs2034241585
|
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
|
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)
|
rs869312751
|
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
|
NM_006493.4(CLN5):c.936del (p.Phe312fs)
|
rs386833966
|
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
|
NM_006494.4(ERF):c.972C>G (p.Tyr324Ter)
|
|
|
|
NM_006496.4(GNAI3):c.986C>T (p.Thr329Met)
|
rs1316507687
|
|
|
NM_006502.3(POLH):c.1234C>A (p.Gln412Lys)
|
|
|
|
NM_006502.3(POLH):c.1833del (p.Lys611fs)
|
|
|
|
NM_006502.3(POLH):c.490+3A>G
|
|
|
|
NM_006506.5(RASA2):c.-15G>T
|
rs767937276
|
|
|
NM_006506.5(RASA2):c.1116T>A (p.Asp372Glu)
|
rs2082919565
|
|
|
NM_006506.5(RASA2):c.1126C>T (p.Pro376Ser)
|
|
|
|
NM_006506.5(RASA2):c.1170-8T>C
|
|
|
|
NM_006506.5(RASA2):c.12_32dup (p.Ala5_Ala11dup)
|
rs1194909078
|
|
|
NM_006506.5(RASA2):c.133+9G>A
|
rs1353085625
|
|
|
NM_006506.5(RASA2):c.1382_1479dup (p.Pro494delinsThrSerTyrSerIleGlnLeuTer)
|
rs2082966552
|
|
|
NM_006506.5(RASA2):c.1410A>G (p.Ser470=)
|
|
|
|
NM_006506.5(RASA2):c.1483+7G>A
|
|
|
|
NM_006506.5(RASA2):c.1484-4G>A
|
|
|
|
NM_006506.5(RASA2):c.1548C>T (p.Ala516=)
|
|
|
|
NM_006506.5(RASA2):c.1549G>T (p.Val517Leu)
|
rs201190266
|
|
|
NM_006506.5(RASA2):c.1577G>A (p.Arg526Gln)
|
|
|
|
NM_006506.5(RASA2):c.1580C>T (p.Pro527Leu)
|
rs2083025042
|
|
|
NM_006506.5(RASA2):c.1660C>G (p.Leu554Val)
|
|
|
|
NM_006506.5(RASA2):c.1675-7T>G
|
rs2107770441
|
|
|
NM_006506.5(RASA2):c.1751_1752+2delinsGGG
|
|
|
|
NM_006506.5(RASA2):c.1751del (p.Lys584fs)
|
|
|
|
NM_006506.5(RASA2):c.1752+2T>G
|
|
|
|
NM_006506.5(RASA2):c.1934-10dup
|
rs1560066820
|
|
|
NM_006506.5(RASA2):c.2020_2021insAT (p.Phe674fs)
|
rs2107801496
|
|
|
NM_006506.5(RASA2):c.2124A>T (p.Gln708His)
|
rs61750362
|
|
|
NM_006506.5(RASA2):c.2129G>A (p.Arg710Lys)
|
rs2083586079
|
|
|
NM_006506.5(RASA2):c.2205C>T (p.Leu735=)
|
rs1029424231
|
|
|
NM_006506.5(RASA2):c.2226-39_2226-17dup
|
rs2083600348
|
|
|
NM_006506.5(RASA2):c.2230G>T (p.Val744Phe)
|
rs1463774211
|
|
|
NM_006506.5(RASA2):c.2330-13C>T
|
|
|
|
NM_006506.5(RASA2):c.2330-2A>G
|
|
|
|
NM_006506.5(RASA2):c.2469T>G (p.Pro823=)
|
rs2107803362
|
|
|
NM_006506.5(RASA2):c.248T>G (p.Leu83Ter)
|
|
|
|
NM_006506.5(RASA2):c.2519+18T>G
|
rs2083613884
|
|
|
NM_006506.5(RASA2):c.2546C>T (p.Ser849Phe)
|
|
|
|
NM_006506.5(RASA2):c.286C>A (p.Pro96Thr)
|
rs761761007
|
|
|
NM_006506.5(RASA2):c.299A>G (p.Gln100Arg)
|
rs1235489668
|
|
|
NM_006506.5(RASA2):c.356-15A>C
|
rs772907849
|
|
|
NM_006506.5(RASA2):c.374A>G (p.Lys125Arg)
|
|
|
|
NM_006506.5(RASA2):c.374_443dup (p.Glu148_Val149insArgArgLeuValTer)
|
rs2082232970
|
|
|
NM_006506.5(RASA2):c.48del (p.Ala17fs)
|
|
|
|
NM_006506.5(RASA2):c.49del (p.Ala17fs)
|
|
|
|
NM_006506.5(RASA2):c.527+15dup
|
rs562128860
|
|
|
NM_006506.5(RASA2):c.535G>A (p.Ala179Thr)
|
|
|
|
NM_006506.5(RASA2):c.610A>G (p.Arg204Gly)
|
|
|
|
NM_006506.5(RASA2):c.618C>T (p.Asp206=)
|
rs1560029184
|
|
|
NM_006506.5(RASA2):c.657G>A (p.Pro219=)
|
rs34238772
|
|
|
NM_006506.5(RASA2):c.684+15dup
|
rs769572165
|
|
|
NM_006506.5(RASA2):c.882A>G (p.Arg294=)
|
rs2082908209
|
|
|
NM_006506.5(RASA2):c.932_934del (p.Leu311_Asn312delinsTyr)
|
rs2082909407
|
|
|
NM_006514.4(SCN10A):c.1977T>G (p.Phe659Leu)
|
rs1346592471
|
|
|
NM_006514.4(SCN10A):c.2850A>G (p.Lys950=)
|
rs7374804
|
|
|
NM_006514.4(SCN10A):c.5488A>G (p.Met1830Val)
|
rs1253727199
|
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
|
NM_006516.4(SLC2A1):c.1261T>C (p.Cys421Arg)
|
rs1557644984
|
|
|
NM_006516.4(SLC2A1):c.183C>A (p.Leu61=)
|
|
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
|
NM_006516.4(SLC2A1):c.2T>G (p.Met1Arg)
|
|
|
|
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro)
|
rs794727642
|
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
|
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)
|
rs1928309226
|
|
|
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)
|
rs2147870607
|
|
|
NM_006545.5(NPRL2):c.101G>A (p.Arg34Gln)
|
|
|
|
NM_006545.5(NPRL2):c.640G>C (p.Asp214His)
|
|
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
|
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile)
|
rs1597718106
|
|
|
NM_006565.4(CTCF):c.1369C>G (p.Arg457Gly)
|
|
|
|
NM_006565.4(CTCF):c.523G>A (p.Val175Met)
|
|
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
|
NM_006618.5(KDM5B):c.1822-3C>T
|
|
|
|
NM_006618.5(KDM5B):c.2945+1G>A
|
rs2102232815
|
|
|
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
|
|
|
|
NM_006623.4(PHGDH):c.1538C>T (p.Ser513Phe)
|
|
|
|
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
|
|
NM_006623.4(PHGDH):c.412-1G>C
|
rs1651455730
|
|
|
NM_006623.4(PHGDH):c.643+1G>A
|
|
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
|
NM_006642.5(SDCCAG8):c.1356+1G>C
|
rs2147782314
|
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
|
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
|
|
|
|
NM_006642.5(SDCCAG8):c.2071_2072del (p.Arg691fs)
|
|
|
|
NM_006642.5(SDCCAG8):c.2138_*5delinsTCACA (p.Cys713fs)
|
rs2148331600
|
|
|
NM_006642.5(SDCCAG8):c.257A>T (p.Asp86Val)
|
rs2149264026
|
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
|
NM_006642.5(SDCCAG8):c.740+301G>A
|
|
|
|
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
|
|
|
|
NM_006659.4(TUBGCP2):c.1542-2A>G
|
|
|
|
NM_006659.4(TUBGCP2):c.824+1G>C
|
|
|
|
NM_006662.3(SRCAP):c.2221C>T (p.Arg741Cys)
|
|
|
|
NM_006662.3(SRCAP):c.2778C>G (p.Ala926=)
|
|
|
|
NM_006662.3(SRCAP):c.3248C>G (p.Pro1083Arg)
|
rs1288652197
|
|
|
NM_006662.3(SRCAP):c.3991C>A (p.Pro1331Thr)
|
|
|
|
NM_006662.3(SRCAP):c.4055G>A (p.Arg1352Gln)
|
|
|
|
NM_006662.3(SRCAP):c.4082C>T (p.Ala1361Val)
|
|
|
|
NM_006662.3(SRCAP):c.492+11C>A
|
|
|
|
NM_006662.3(SRCAP):c.5677C>T (p.Arg1893Trp)
|
|
|
|
NM_006662.3(SRCAP):c.6297+17C>T
|
|
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
|
NM_006662.3(SRCAP):c.7409C>T (p.Ala2470Val)
|
|
|
|
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu)
|
rs2053173193
|
|
|
NM_006662.3(SRCAP):c.8222C>T (p.Pro2741Leu)
|
|
|
|
NM_006662.3(SRCAP):c.9563G>A (p.Arg3188His)
|
|
|
|
NM_006715.4(MAN2C1):c.768del (p.His258fs)
|
|
|
|
NM_006734.4(HIVEP2):c.2076T>C (p.Cys692=)
|
|
|
|
NM_006734.4(HIVEP2):c.2202G>A (p.Met734Ile)
|
|
|
|
NM_006734.4(HIVEP2):c.2270G>A (p.Arg757His)
|
|
|
|
NM_006734.4(HIVEP2):c.227T>C (p.Val76Ala)
|
rs2114665769
|
|
|
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
|
rs869312841
|
|
|
NM_006734.4(HIVEP2):c.3343C>T (p.Leu1115Phe)
|
rs1179177419
|
|
|
NM_006734.4(HIVEP2):c.3420G>A (p.Ala1140=)
|
|
|
|
NM_006734.4(HIVEP2):c.3569T>G (p.Phe1190Cys)
|
|
|
|
NM_006734.4(HIVEP2):c.4502C>A (p.Ala1501Asp)
|
|
|
|
NM_006734.4(HIVEP2):c.4910A>G (p.Gln1637Arg)
|
|
|
|
NM_006734.4(HIVEP2):c.5060C>A (p.Thr1687Asn)
|
|
|
|
NM_006734.4(HIVEP2):c.5620+9G>T
|
|
|
|
NM_006734.4(HIVEP2):c.6004T>G (p.Phe2002Val)
|
|
|
|
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)
|
rs121434638
|
|
|
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg)
|
|
|
|
NM_006766.5(KAT6A):c.2968_2969delinsAT (p.Glu990Met)
|
|
|
|
NM_006766.5(KAT6A):c.3053A>T (p.His1018Leu)
|
|
|
|
NM_006766.5(KAT6A):c.4669G>A (p.Glu1557Lys)
|
|
|
|
NM_006766.5(KAT6A):c.4673G>A (p.Ser1558Asn)
|
|
|
|
NM_006766.5(KAT6A):c.4847G>C (p.Cys1616Ser)
|
|
|
|
NM_006766.5(KAT6A):c.795C>G (p.Cys265Trp)
|
rs1194154094
|
|
|
NM_006767.4(LZTR1):c.1175C>A (p.Ala392Glu)
|
|
|
|
NM_006767.4(LZTR1):c.11dup (p.Ser6fs)
|
rs1369717076
|
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
|
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
|
|
|
NM_006767.4(LZTR1):c.1339T>G (p.Phe447Val)
|
rs1312334046
|
|
|
NM_006767.4(LZTR1):c.1341C>A (p.Phe447Leu)
|
rs201016956
|
|
|
NM_006767.4(LZTR1):c.1373G>C (p.Gly458Ala)
|
|
|
|
NM_006767.4(LZTR1):c.1379T>C (p.Val460Ala)
|
rs982153864
|
|
|
NM_006767.4(LZTR1):c.1468G>A (p.Ala490Thr)
|
|
|
|
NM_006767.4(LZTR1):c.1496_1590dup (p.Asp531fs)
|
rs1924717764
|
|
|
NM_006767.4(LZTR1):c.1513C>T (p.Arg505Trp)
|
rs770974858
|
|
|
NM_006767.4(LZTR1):c.1545G>A (p.Glu515=)
|
rs2147967370
|
|
|
NM_006767.4(LZTR1):c.1561T>G (p.Phe521Val)
|
rs1924722057
|
|
|
NM_006767.4(LZTR1):c.160T>G (p.Trp54Gly)
|
|
|
|
NM_006767.4(LZTR1):c.1620T>C (p.His540=)
|
rs141610191
|
|
|
NM_006767.4(LZTR1):c.1674G>C (p.Gln558His)
|
|
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
|
NM_006767.4(LZTR1):c.1735_1785+8dup
|
rs1924758509
|
|
|
NM_006767.4(LZTR1):c.1751dup (p.Ser585fs)
|
rs1569157346
|
|
|
NM_006767.4(LZTR1):c.1753_1754del (p.Ser585fs)
|
|
|
|
NM_006767.4(LZTR1):c.1764_1785+8dup
|
rs1924760583
|
|
|
NM_006767.4(LZTR1):c.1785+13_1785+33dup
|
|
|
|
NM_006767.4(LZTR1):c.1785G>A (p.Lys595=)
|
|
|
|
NM_006767.4(LZTR1):c.1835T>A (p.Ile612Asn)
|
|
|
|
NM_006767.4(LZTR1):c.1862C>T (p.Ser621Phe)
|
rs1389937904
|
|
|
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)
|
rs770312150
|
|
|
NM_006767.4(LZTR1):c.1958A>G (p.Gln653Arg)
|
|
|
|
NM_006767.4(LZTR1):c.1989C>T (p.Gly663=)
|
|
|
|
NM_006767.4(LZTR1):c.1992G>A (p.Ala664=)
|
|
|
|
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro)
|
|
|
|
NM_006767.4(LZTR1):c.201-11T>G
|
|
|
|
NM_006767.4(LZTR1):c.201-15C>T
|
|
|
|
NM_006767.4(LZTR1):c.2043C>T (p.His681=)
|
rs1414979503
|
|
|
NM_006767.4(LZTR1):c.2070-15G>A
|
rs1601722962
|
|
|
NM_006767.4(LZTR1):c.2103C>G (p.Pro701=)
|
rs139080986
|
|
|
NM_006767.4(LZTR1):c.2103C>T (p.Pro701=)
|
rs139080986
|
|
|
NM_006767.4(LZTR1):c.211C>T (p.His71Tyr)
|
rs1438837277
|
|
|
NM_006767.4(LZTR1):c.2134G>C (p.Glu712Gln)
|
rs1409419929
|
|
|
NM_006767.4(LZTR1):c.2258del (p.Asn753fs)
|
|
|
|
NM_006767.4(LZTR1):c.234T>C (p.Asp78=)
|
|
|
|
NM_006767.4(LZTR1):c.2406+15C>T
|
rs1350762782
|
|
|
NM_006767.4(LZTR1):c.2407-20C>A
|
rs1924894264
|
|
|
NM_006767.4(LZTR1):c.2440_2444dup (p.Gln815fs)
|
rs1467667029
|
|
|
NM_006767.4(LZTR1):c.2457CAT[1] (p.Ile821del)
|
|
|
|
NM_006767.4(LZTR1):c.2468C>T (p.Ser823Phe)
|
|
|
|
NM_006767.4(LZTR1):c.250G>C (p.Gly84Arg)
|
rs774010552
|
|
|
NM_006767.4(LZTR1):c.263+7_263+10del
|
rs765081424
|
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
|
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)
|
rs756485244
|
|
|
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)
|
rs587777613
|
|
|
NM_006767.4(LZTR1):c.320+13G>A
|
rs188924002
|
|
|
NM_006767.4(LZTR1):c.320+13G>C
|
|
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
|
NM_006767.4(LZTR1):c.321-14_321-3del
|
rs137977968
|
|
|
NM_006767.4(LZTR1):c.333T>C (p.Thr111=)
|
rs1601716920
|
|
|
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
|
|
|
|
NM_006767.4(LZTR1):c.352del (p.Arg118fs)
|
rs1486960809
|
|
|
NM_006767.4(LZTR1):c.368C>T (p.Ala123Val)
|
|
|
|
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)
|
rs755783378
|
|
|
NM_006767.4(LZTR1):c.372_385del (p.Val125fs)
|
rs1924439391
|
|
|
NM_006767.4(LZTR1):c.373G>C (p.Val125Leu)
|
|
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
|
NM_006767.4(LZTR1):c.401-15A>C
|
rs1924457413
|
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
|
NM_006767.4(LZTR1):c.428A>G (p.Asn143Ser)
|
|
|
|
NM_006767.4(LZTR1):c.42G>A (p.Ala14=)
|
rs1446469999
|
|
|
NM_006767.4(LZTR1):c.436T>G (p.Leu146Val)
|
rs1555927611
|
|
|
NM_006767.4(LZTR1):c.44C>T (p.Ala15Val)
|
rs2147956758
|
|
|
NM_006767.4(LZTR1):c.510-60_530dup
|
rs1924491968
|
|
|
NM_006767.4(LZTR1):c.524G>T (p.Arg175Met)
|
rs1924495083
|
|
|
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys)
|
rs1870169267
|
|
|
NM_006767.4(LZTR1):c.584G>A (p.Gly195Asp)
|
rs777756228
|
|
|
NM_006767.4(LZTR1):c.594-105_594-14dup
|
rs1924518604
|
|
|
NM_006767.4(LZTR1):c.628C>A (p.Arg210=)
|
rs150419186
|
|
|
NM_006767.4(LZTR1):c.651+10_651+46del
|
rs541944601
|
|
|
NM_006767.4(LZTR1):c.652-12C>G
|
rs1924560781
|
|
|
NM_006767.4(LZTR1):c.686G>C (p.Cys229Ser)
|
rs2147964025
|
|
|
NM_006767.4(LZTR1):c.714_783dup (p.Asp262delinsGlnAspValCysIleLeuTrpAlaLysArgSerGlnAsnAsnGlnGlnProLeuProValTer)
|
rs1924566447
|
|
|
NM_006767.4(LZTR1):c.727T>C (p.Phe243Leu)
|
rs2147964079
|
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
|
NM_006767.4(LZTR1):c.81C>T (p.Ser27=)
|
|
|
|
NM_006767.4(LZTR1):c.822C>T (p.Leu274=)
|
rs1924609774
|
|
|
NM_006767.4(LZTR1):c.824_921dup (p.Pro308fs)
|
rs1924610101
|
|
|
NM_006767.4(LZTR1):c.851G>A (p.Arg284His)
|
rs768361273
|
|
|
NM_006767.4(LZTR1):c.901G>C (p.Gly301Arg)
|
|
|
|
NM_006767.4(LZTR1):c.918G>A (p.Thr306=)
|
rs367738742
|
|
|
NM_006772.3(SYNGAP1):c.1559C>T (p.Ser520Phe)
|
|
|
|
NM_006772.3(SYNGAP1):c.2336+7G>A
|
|
|
|
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
|
|
|
|
NM_006772.3(SYNGAP1):c.2961C>T (p.Asp987=)
|
|
|
|
NM_006772.3(SYNGAP1):c.3002T>C (p.Leu1001Pro)
|
|
|
|
NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter)
|
|
|
|
NM_006772.3(SYNGAP1):c.387+8G>A
|
|
|
|
NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile)
|
|
|
|
NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs)
|
rs2144484602
|
|
|
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
|
|
|
|
NM_006790.3(MYOT):c.1336del (p.Gln446fs)
|
|
|
|
NM_006790.3(MYOT):c.956G>A (p.Gly319Glu)
|
rs1330407694
|
|
|
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser)
|
rs1191222406
|
|
|
NM_006796.3(AFG3L2):c.1165-15T>C
|
|
|
|
NM_006796.3(AFG3L2):c.1780-9A>C
|
|
|
|
NM_006796.3(AFG3L2):c.1838A>C (p.Gln613Pro)
|
|
|
|
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
|
rs727502823
|
|
|
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala)
|
rs797045221
|
|
|
NM_006796.3(AFG3L2):c.2140G>A (p.Ala714Thr)
|
|
|
|
NM_006796.3(AFG3L2):c.2372C>T (p.Pro791Leu)
|
|
|
|
NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)
|
|
|
|
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)
|
rs565782662
|
|
|
NM_006852.6(TLK2):c.1859+16C>T
|
|
|
|
NM_006852.6(TLK2):c.2139G>A (p.Leu713=)
|
|
|
|
NM_006859.4(LIAS):c.440dup (p.Thr148fs)
|
rs1744706299
|
|
|
NM_006888.6(CALM1):c.309A>T (p.Ala103=)
|
|
|
|
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser)
|
rs150736372
|
|
|
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)
|
|
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
|
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His)
|
rs149046541
|
|
|
NM_006904.7(PRKDC):c.11050T>C (p.Ser3684Pro)
|
rs2154497615
|
|
|
NM_006904.7(PRKDC):c.154+19T>C
|
rs2154504861
|
|
|
NM_006904.7(PRKDC):c.325-19dup
|
rs567466258
|
|
|
NM_006904.7(PRKDC):c.5181G>C (p.Arg1727Ser)
|
rs1363640503
|
|
|
NM_006904.7(PRKDC):c.5750+2_5750+5del
|
rs2154500742
|
|
|
NM_006904.7(PRKDC):c.6G>C (p.Ala2=)
|
rs1389165598
|
|
|
NM_006904.7(PRKDC):c.9556C>T (p.Arg3186Ter)
|
|
|
|
NM_006904.7(PRKDC):c.9557+2T>A
|
|
|
|
NM_006904.7(PRKDC):c.9749A>G (p.Asn3250Ser)
|
|
|
|
NM_006907.4(PYCR1):c.148G>A (p.Val50Met)
|
rs550125238
|
|
|
NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)
|
|
|
|
NM_006907.4(PYCR1):c.321G>A (p.Lys107=)
|
|
|
|
NM_006907.4(PYCR1):c.515G>A (p.Gly172Glu)
|
|
|
|
NM_006907.4(PYCR1):c.575del (p.Gly192fs)
|
|
|
|
NM_006907.4(PYCR1):c.635G>A (p.Gly212Glu)
|
rs1194906519
|
|
|
NM_006907.4(PYCR1):c.778G>C (p.Ala260Pro)
|
|
|
|
NM_006907.4(PYCR1):c.820C>T (p.Gln274Ter)
|
rs767043460
|
|
|
NM_006908.5(RAC1):c.35+2T>G
|
|
|
|
NM_006908.5(RAC1):c.69C>T (p.Tyr23=)
|
|
|
|
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser)
|
rs2102590960
|
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.238-12G>C
|
|
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
|
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
|
|
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
|
NM_006912.6(RIT1):c.272G>A (p.Arg91Lys)
|
rs2102584832
|
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
|
NM_006912.6(RIT1):c.29G>T (p.Ser10Ile)
|
|
|
|
NM_006912.6(RIT1):c.358C>G (p.Arg120Gly)
|
rs2102584744
|
|
|
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
|
|
|
|
NM_006912.6(RIT1):c.437A>G (p.Lys146Arg)
|
|
|
|
NM_006912.6(RIT1):c.532C>G (p.Leu178Val)
|
rs730881013
|
|
|
NM_006912.6(RIT1):c.563_648dup (p.Ser217delinsArgGlnTyrTrpProTrpArgLysAsnLeuSerProLysThrValTyrGlyArgGlyTer)
|
rs1673287743
|
|
|
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro)
|
rs1673289658
|
|
|
NM_006912.6(RIT1):c.639G>A (p.Lys213=)
|
rs1673288442
|
|
|
NM_006912.6(RIT1):c.659GAAGA[1] (p.Ter220=)
|
rs777195602
|
|
|
NM_006912.6(RIT1):c.78G>A (p.Met26Ile)
|
|
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
|
NM_006929.5(SKIC2):c.1065-2A>G
|
|
|
|
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
|
|
|
|
NM_006929.5(SKIC2):c.1637del (p.Gly546fs)
|
rs1772636752
|
|
|
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
|
|
|
|
NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter)
|
rs200271795
|
|
|
NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)
|
|
|
|
NM_006929.5(SKIC2):c.919-3_919-2insCA
|
|
|
|
NM_006939.4(SOS2):c.105T>C (p.His35=)
|
|
|
|
NM_006939.4(SOS2):c.1068+17_1068+18del
|
|
|
|
NM_006939.4(SOS2):c.1069-12G>A
|
|
|
|
NM_006939.4(SOS2):c.1197-11G>C
|
|
|
|
NM_006939.4(SOS2):c.1263T>C (p.Asn421=)
|
rs369267864
|
|
|
NM_006939.4(SOS2):c.1310A>G (p.Gln437Arg)
|
|
|
|
NM_006939.4(SOS2):c.1323A>T (p.Glu441Asp)
|
|
|
|
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp)
|
rs1555370121
|
|
|
NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
|
|
|
|
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)
|
rs748632850
|
|
|
NM_006939.4(SOS2):c.1773A>G (p.Gln591=)
|
|
|
|
NM_006939.4(SOS2):c.1844T>C (p.Met615Thr)
|
|
|
|
NM_006939.4(SOS2):c.1895T>G (p.Phe632Cys)
|
rs373142212
|
|
|
NM_006939.4(SOS2):c.1934+12A>G
|
rs1054073809
|
|
|
NM_006939.4(SOS2):c.1935-20C>G
|
rs376985307
|
|
|
NM_006939.4(SOS2):c.2057+19_2057+20del
|
rs111970905
|
|
|
NM_006939.4(SOS2):c.2061C>T (p.Ile687=)
|
rs2139604581
|
|
|
NM_006939.4(SOS2):c.213+7A>C
|
rs1886593848
|
|
|
NM_006939.4(SOS2):c.2162-27_2231dup
|
rs1884615891
|
|
|
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val)
|
rs1566827698
|
|
|
NM_006939.4(SOS2):c.2217G>A (p.Lys739=)
|
rs186110427
|
|
|
NM_006939.4(SOS2):c.2234_2278dup (p.Gly745_Ile759dup)
|
rs1884613778
|
|
|
NM_006939.4(SOS2):c.2397G>A (p.Pro799=)
|
rs770022419
|
|
|
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys)
|
rs556373963
|
|
|
NM_006939.4(SOS2):c.2786-17_2786-16insTC
|
rs1884170083
|
|
|
NM_006939.4(SOS2):c.2786-18dup
|
rs201957103
|
|
|
NM_006939.4(SOS2):c.2786-6del
|
rs201957103
|
|
|
NM_006939.4(SOS2):c.2959-20T>G
|
rs375042033
|
|
|
NM_006939.4(SOS2):c.3051A>C (p.Arg1017=)
|
rs1243824770
|
|
|
NM_006939.4(SOS2):c.3076-19T>C
|
|
|
|
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
|
|
|
|
NM_006939.4(SOS2):c.3157C>T (p.Arg1053Ter)
|
rs1883839880
|
|
|
NM_006939.4(SOS2):c.3163_3183dup (p.Arg1061_Glu1062insHisProThrProLeuGluArg)
|
|
|
|
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn)
|
rs1419463844
|
|
|
NM_006939.4(SOS2):c.3337+4A>G
|
rs924531063
|
|
|
NM_006939.4(SOS2):c.346-10_346-8del
|
|
|
|
NM_006939.4(SOS2):c.3490-13_3490-12dup
|
rs10658395
|
|
|
NM_006939.4(SOS2):c.3490-13dup
|
rs10658395
|
|
|
NM_006939.4(SOS2):c.3490-4del
|
rs10658395
|
|
|
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)
|
rs765097073
|
|
|
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
|
|
|
|
NM_006939.4(SOS2):c.3584C>G (p.Ala1195Gly)
|
|
|
|
NM_006939.4(SOS2):c.3679T>G (p.Phe1227Val)
|
|
|
|
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
|
rs775506222
|
|
|
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=)
|
rs2227276
|
|
|
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
|
|
|
|
NM_006939.4(SOS2):c.399A>C (p.Val133=)
|
rs144584870
|
|
|
NM_006939.4(SOS2):c.445G>A (p.Val149Ile)
|
|
|
|
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr)
|
rs61755579
|
|
|
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)
|
rs61755579
|
|
|
NM_006939.4(SOS2):c.624_673dup (p.Arg225delinsGlnLysLysAspSerIleTyrGlyAsnTer)
|
rs1886002059
|
|
|
NM_006939.4(SOS2):c.769_858+8dup
|
rs1885775324
|
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
|
NM_006939.4(SOS2):c.858+12A>G
|
rs1318750223
|
|
|
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys)
|
rs2139702139
|
|
|
NM_006939.4(SOS2):c.970-24_1037dup
|
rs1885463095
|
|
|
NM_006939.4(SOS2):c.985_1064dup (p.Lys356fs)
|
rs1885462206
|
|
|
NM_006940.6(SOX5):c.811-4G>A
|
|
|
|
NM_006940.6(SOX5):c.982G>A (p.Ala328Thr)
|
|
|
|
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)
|
|
|
|
NM_006941.4(SOX10):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_006946.4(SPTBN2):c.1282G>T (p.Ala428Ser)
|
|
|
|
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)
|
rs1941669517
|
|
|
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)
|
rs1554985851
|
|
|
NM_006946.4(SPTBN2):c.2305C>G (p.Leu769Val)
|
|
|
|
NM_006946.4(SPTBN2):c.266G>A (p.Arg89His)
|
rs374485184
|
|
|
NM_006946.4(SPTBN2):c.2779G>A (p.Asp927Asn)
|
|
|
|
NM_006946.4(SPTBN2):c.2816+11G>T
|
|
|
|
NM_006946.4(SPTBN2):c.4964T>C (p.Ile1655Thr)
|
|
|
|
NM_006946.4(SPTBN2):c.5190+6T>C
|
|
|
|
NM_006946.4(SPTBN2):c.5377C>G (p.Arg1793Gly)
|
rs1314673381
|
|
|
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
|
|
|
|
NM_006949.4(STXBP2):c.1027-17CACCCTG[3]
|
rs776600326
|
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
|
NM_006949.4(STXBP2):c.1630A>G (p.Met544Val)
|
rs1263938690
|
|
|
NM_006949.4(STXBP2):c.1674G>T (p.Glu558Asp)
|
rs780461960
|
|
|
NM_006949.4(STXBP2):c.247-2A>C
|
rs921624651
|
|
|
NM_006949.4(STXBP2):c.429+18C>G
|
|
|
|
NM_006950.3(SYN1):c.1398C>G (p.Gly466=)
|
|
|
|
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)
|
rs397514680
|
|
|
NM_006950.3(SYN1):c.1765G>A (p.Gly589Ser)
|
|
|
|
NM_006950.3(SYN1):c.1925A>G (p.Gln642Arg)
|
|
|
|
NM_006982.3(ALX1):c.149T>C (p.Val50Ala)
|
|
|
|
NM_006996.3(SLC19A2):c.1033G>A (p.Ala345Thr)
|
|
|
|
NM_007050.6(PTPRT):c.89-1G>A
|
|
|
|
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu)
|
rs267608668
|
|
|
NM_007055.4(POLR3A):c.1771-7C>G
|
rs201314157
|
|
|
NM_007059.3(KPTN):c.397_398delAG
|
|
|
|
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs)
|
rs2151063606
|
|
|
NM_007078.3(LDB3):c.-16C>T
|
|
|
|
NM_007078.3(LDB3):c.1041C>A (p.Ser347=)
|
rs45555240
|
|
|
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
|
|
|
|
NM_007078.3(LDB3):c.1232-12dup
|
rs752301693
|
|
|
NM_007078.3(LDB3):c.1296_1343del (p.Ala434_Pro449del)
|
rs397517209
|
|
|
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
|
|
|
|
NM_007078.3(LDB3):c.1344A>C (p.Ser448=)
|
rs1193385379
|
|
|
NM_007078.3(LDB3):c.1349T>C (p.Val450Ala)
|
rs1407391787
|
|
|
NM_007078.3(LDB3):c.1353_1354inv (p.Thr452Ala)
|
|
|
|
NM_007078.3(LDB3):c.1362T>C (p.Thr454=)
|
rs1444315677
|
|
|
NM_007078.3(LDB3):c.1365A>C (p.Pro455=)
|
rs1349378353
|
|
|
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
|
|
|
|
NM_007078.3(LDB3):c.1597del (p.Arg533fs)
|
|
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
|
NM_007078.3(LDB3):c.1716T>A (p.Pro572=)
|
|
|
|
NM_007078.3(LDB3):c.1857+8G>T
|
rs1846943768
|
|
|
NM_007078.3(LDB3):c.390AGGCACCCC[3] (p.131GTP[3])
|
rs750334087
|
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
|
NM_007078.3(LDB3):c.576G>A (p.Pro192=)
|
rs45543741
|
|
|
NM_007078.3(LDB3):c.576G>T (p.Pro192=)
|
rs45543741
|
|
|
NM_007078.3(LDB3):c.675C>G (p.Val225=)
|
rs749425278
|
|
|
NM_007078.3(LDB3):c.811C>T (p.Gln271Ter)
|
rs2132415645
|
|
|
NM_007078.3(LDB3):c.859+5G>C
|
|
|
|
NM_007078.3(LDB3):c.94-1G>C
|
|
|
|
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
|
|
|
|
NM_007103.4(NDUFV1):c.155+1G>A
|
rs1565224383
|
|
|
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln)
|
rs778295360
|
|
|
NM_007103.4(NDUFV1):c.499del (p.Ser167fs)
|
|
|
|
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
|
|
|
|
NM_007103.4(NDUFV1):c.76G>A (p.Ala26Thr)
|
|
|
|
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu)
|
rs573896386
|
|
|
NM_007113.4(TCHH):c.699del (p.Gln234fs)
|
|
|
|
NM_007118.4(TRIO):c.1053+8C>T
|
|
|
|
NM_007118.4(TRIO):c.1368+19del
|
|
|
|
NM_007118.4(TRIO):c.2167G>T (p.Val723Leu)
|
|
|
|
NM_007118.4(TRIO):c.3447+2T>C
|
|
|
|
NM_007118.4(TRIO):c.3716G>A (p.Arg1239Lys)
|
rs2152361600
|
|
|
NM_007118.4(TRIO):c.3881+3A>T
|
|
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
|
NM_007118.4(TRIO):c.4951A>G (p.Ser1651Gly)
|
|
|
|
NM_007118.4(TRIO):c.5638C>T (p.Leu1880Phe)
|
|
|
|
NM_007118.4(TRIO):c.5926G>C (p.Glu1976Gln)
|
|
|
|
NM_007118.4(TRIO):c.6388-14C>T
|
|
|
|
NM_007118.4(TRIO):c.7059CTC[1] (p.Ser2355del)
|
|
|
|
NM_007118.4(TRIO):c.7416C>T (p.Pro2472=)
|
|
|
|
NM_007118.4(TRIO):c.7444G>C (p.Gly2482Arg)
|
|
|
|
NM_007118.4(TRIO):c.761G>A (p.Arg254Gln)
|
|
|
|
NM_007118.4(TRIO):c.8332+6C>T
|
|
|
|
NM_007118.4(TRIO):c.8915C>A (p.Thr2972Asn)
|
|
|
|
NM_007118.4(TRIO):c.905C>T (p.Ala302Val)
|
|
|
|
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)
|
|
|
|
NM_007194.3(CHEK2):c.1462-?_1542+?del
|
|
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
|
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg)
|
rs374660293
|
|
|
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys)
|
rs786203185
|
|
|
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr)
|
rs1361935182
|
|
|
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser)
|
rs764181318
|
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
|
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr)
|
rs1555913901
|
|
|
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile)
|
rs587780168
|
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
|
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
|
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del)
|
rs760118917
|
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
|
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr)
|
rs1601719955
|
|
|
NM_007194.4(CHEK2):c.1305dup (p.Leu436fs)
|
|
|
|
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val)
|
rs750012749
|
|
|
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg)
|
rs764449869
|
|
|
NM_007194.4(CHEK2):c.1375+10T>C
|
rs2052511807
|
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
|
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile)
|
rs762488591
|
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
|
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr)
|
rs786203490
|
|
|
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val)
|
rs549945536
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
|
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
|
NM_007194.4(CHEK2):c.1542+7G>A
|
rs4035547
|
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
|
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)
|
rs587780180
|
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
|
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter)
|
rs138040612
|
|
|
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln)
|
rs587781710
|
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
|
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=)
|
rs773670297
|
|
|
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe)
|
rs876659424
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
|
NM_007194.4(CHEK2):c.319+8C>A
|
rs776443322
|
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
|
NM_007194.4(CHEK2):c.320-5T>C
|
rs121908700
|
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
|
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly)
|
rs1555927328
|
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
|
NM_007194.4(CHEK2):c.424A>T (p.Lys142Ter)
|
|
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
|
NM_007194.4(CHEK2):c.474A>C (p.Ala158=)
|
rs745699485
|
|
|
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)
|
rs745699485
|
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
|
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly)
|
rs730881683
|
|
|
NM_007194.4(CHEK2):c.488A>G (p.His163Arg)
|
rs752304641
|
|
|
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala)
|
rs786203836
|
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
|
NM_007194.4(CHEK2):c.582C>T (p.Ser194=)
|
rs761126328
|
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
|
NM_007194.4(CHEK2):c.592+81del
|
rs746878232
|
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
|
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val)
|
rs786202416
|
|
|
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu)
|
rs587781563
|
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
|
NM_007194.4(CHEK2):c.684-4C>A
|
rs121908695
|
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
|
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr)
|
rs1060502719
|
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
|
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val)
|
rs876658690
|
|
|
NM_007194.4(CHEK2):c.776G>A (p.Gly259Asp)
|
|
|
|
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn)
|
rs878854923
|
|
|
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu)
|
rs786203778
|
|
|
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro)
|
rs1490781911
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
|
NM_007194.4(CHEK2):c.873T>C (p.Phe291=)
|
|
|
|
NM_007194.4(CHEK2):c.89_90insAG (p.Ser31fs)
|
rs2146152668
|
|
|
NM_007194.4(CHEK2):c.907T>C (p.Leu303=)
|
rs752359705
|
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
|
NM_007194.4(CHEK2):c.908+7A>T
|
rs2052973187
|
|
|
NM_007212.4(RNF2):c.248+11A>T
|
|
|
|
NM_007214.5(SEC63):c.340-10_340-7del
|
rs66526324
|
|
|
NM_007215.4(POLG2):c.1265A>C (p.Gln422Pro)
|
|
|
|
NM_007215.4(POLG2):c.130G>C (p.Val44Leu)
|
|
|
|
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)
|
rs104894632
|
|
|
NM_007215.4(POLG2):c.420del (p.Asp142fs)
|
rs1555669548
|
|
|
NM_007254.4(PNKP):c.1288_1298+6dup
|
rs1555810844
|
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
|
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)
|
|
|
|
NM_007289.4(MME):c.1400dup (p.Arg468fs)
|
rs751149568
|
|
|
NM_007289.4(MME):c.1500G>T (p.Leu500Phe)
|
|
|
|
NM_007289.4(MME):c.1557A>C (p.Gln519His)
|
|
|
|
NM_007289.4(MME):c.1601+4C>T
|
|
|
|
NM_007289.4(MME):c.197-3C>T
|
|
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
|
NM_007289.4(MME):c.993G>T (p.Met331Ile)
|
|
|
|
NM_007294.3(BRCA1):c.4358-?_5277+?del
|
|
|
|
NM_007294.3(BRCA1):c.5193+3_5193+15del
|
rs273901752
|
|
|
NM_007294.4(BRCA1):c.*14C>G
|
rs1064796142
|
|
|
NM_007294.4(BRCA1):c.-1A>G
|
rs587781565
|
|
|
NM_007294.4(BRCA1):c.-3G>C
|
rs273900720
|
|
|
NM_007294.4(BRCA1):c.1005C>A (p.Ser335Arg)
|
rs876660367
|
|
|
NM_007294.4(BRCA1):c.1008A>G (p.Thr336=)
|
rs1060504568
|
|
|
NM_007294.4(BRCA1):c.1012A>G (p.Lys338Glu)
|
rs397508826
|
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
|
NM_007294.4(BRCA1):c.101del (p.Pro34fs)
|
rs80357750
|
|
|
NM_007294.4(BRCA1):c.1021G>T (p.Asp341Tyr)
|
rs756987689
|
|
|
NM_007294.4(BRCA1):c.1036C>G (p.Pro346Ala)
|
rs80357015
|
|
|
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
|
rs886037985
|
|
|
NM_007294.4(BRCA1):c.1061A>T (p.Asn354Ile)
|
rs1555592577
|
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
|
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr)
|
rs183557525
|
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
|
NM_007294.4(BRCA1):c.1083A>C (p.Ser361=)
|
rs2053996252
|
|
|
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)
|
rs80359875
|
|
|
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)
|
rs1555592526
|
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
|
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)
|
rs80357468
|
|
|
NM_007294.4(BRCA1):c.1121C>T (p.Thr374Ile)
|
rs80357235
|
|
|
NM_007294.4(BRCA1):c.1135A>G (p.Ile379Val)
|
rs864622723
|
|
|
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)
|
rs80357385
|
|
|
NM_007294.4(BRCA1):c.1142A>G (p.Lys381Arg)
|
rs1555592379
|
|
|
NM_007294.4(BRCA1):c.1145T>C (p.Val382Ala)
|
rs2053985286
|
|
|
NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn)
|
rs1800062
|
|
|
NM_007294.4(BRCA1):c.1155G>T (p.Trp385Cys)
|
rs876660558
|
|
|
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)
|
rs80357164
|
|
|
NM_007294.4(BRCA1):c.1161C>T (p.Ser387=)
|
rs1597877741
|
|
|
NM_007294.4(BRCA1):c.1173A>G (p.Glu391=)
|
rs1131692097
|
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
|
NM_007294.4(BRCA1):c.1181G>T (p.Gly394Val)
|
rs1555592295
|
|
|
NM_007294.4(BRCA1):c.1197T>C (p.His399=)
|
rs1555592250
|
|
|
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu)
|
rs397507184
|
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
|
NM_007294.4(BRCA1):c.1212A>C (p.Glu404Asp)
|
rs1057521863
|
|
|
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)
|
rs80357253
|
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
|
NM_007294.4(BRCA1):c.1231G>C (p.Asp411His)
|
rs80357301
|
|
|
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)
|
rs80357163
|
|
|
NM_007294.4(BRCA1):c.1251T>C (p.Asn417=)
|
rs80357197
|
|
|
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu)
|
rs876658873
|
|
|
NM_007294.4(BRCA1):c.1256T>G (p.Val419Gly)
|
rs398122628
|
|
|
NM_007294.4(BRCA1):c.1273T>C (p.Ser425Pro)
|
|
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
|
NM_007294.4(BRCA1):c.1297del (p.Ala433fs)
|
rs80357794
|
|
|
NM_007294.4(BRCA1):c.1307C>T (p.Pro436Leu)
|
rs2154459839
|
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
|
NM_007294.4(BRCA1):c.1310A>G (p.His437Arg)
|
rs80357255
|
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
|
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)
|
rs1597911705
|
|
|
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)
|
rs397508854
|
|
|
NM_007294.4(BRCA1):c.133_134+3delinsT
|
rs397508856
|
|
|
NM_007294.4(BRCA1):c.134+11A>G
|
rs2055240251
|
|
|
NM_007294.4(BRCA1):c.134+16T>A
|
rs2055238665
|
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
|
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)
|
rs80357597
|
|
|
NM_007294.4(BRCA1):c.135-11A>G
|
rs769549104
|
|
|
NM_007294.4(BRCA1):c.135-1G>A
|
rs80358158
|
|
|
NM_007294.4(BRCA1):c.135-20T>G
|
rs80358025
|
|
|
NM_007294.4(BRCA1):c.135-23CTTT[2]
|
rs878854931
|
|
|
NM_007294.4(BRCA1):c.135A>T (p.Lys45Asn)
|
rs80356883
|
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
|
NM_007294.4(BRCA1):c.1374del (p.Asp458fs)
|
rs397508862
|
|
|
NM_007294.4(BRCA1):c.1377_1378del (p.Lys459fs)
|
rs398122633
|
|
|
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg)
|
rs398122634
|
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
|
NM_007294.4(BRCA1):c.1386del (p.Thr464fs)
|
rs80357722
|
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
|
NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs)
|
rs273897659
|
|
|
NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys)
|
rs876659885
|
|
|
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)
|
rs80356964
|
|
|
NM_007294.4(BRCA1):c.1398G>A (p.Arg466=)
|
rs1060504571
|
|
|
NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly)
|
rs80357370
|
|
|
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)
|
rs397507187
|
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
|
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile)
|
rs80357057
|
|
|
NM_007294.4(BRCA1):c.1432_1441dup (p.Leu481delinsHisTer)
|
|
|
|
NM_007294.4(BRCA1):c.143del (p.Met48fs)
|
rs80357637
|
|
|
NM_007294.4(BRCA1):c.144del (p.Met48fs)
|
rs80357682
|
|
|
NM_007294.4(BRCA1):c.1450G>A (p.Gly484Arg)
|
rs80357304
|
|
|
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs)
|
rs80357599
|
|
|
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=)
|
rs794726997
|
|
|
NM_007294.4(BRCA1):c.1468_1513dup (p.Lys505delinsThrThrAspAsnThrArgAlaSerProHisLysTer)
|
rs2154441580
|
|
|
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
|
NM_007294.4(BRCA1):c.1498A>G (p.Asn500Asp)
|
rs1555591681
|
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
|
NM_007294.4(BRCA1):c.1506A>G (p.Leu502=)
|
rs786203671
|
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
|
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter)
|
rs398122636
|
|
|
NM_007294.4(BRCA1):c.1518del (p.Arg507fs)
|
rs80357947
|
|
|
NM_007294.4(BRCA1):c.1523del (p.Pro508fs)
|
rs80357782
|
|
|
NM_007294.4(BRCA1):c.1533C>G (p.Gly511=)
|
rs1280391272
|
|
|
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile)
|
rs80357084
|
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
|
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val)
|
rs80357333
|
|
|
NM_007294.4(BRCA1):c.1574T>C (p.Val525Ala)
|
rs879253902
|
|
|
NM_007294.4(BRCA1):c.1589A>G (p.Glu530Gly)
|
rs1555591512
|
|
|
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter)
|
rs142074233
|
|
|
NM_007294.4(BRCA1):c.1604del (p.Gly535fs)
|
rs2154434302
|
|
|
NM_007294.4(BRCA1):c.1618G>A (p.Glu540Lys)
|
rs730881471
|
|
|
NM_007294.4(BRCA1):c.1652G>A (p.Ser551Asn)
|
rs2154431888
|
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
|
NM_007294.4(BRCA1):c.1666A>G (p.Lys556Glu)
|
rs587783041
|
|
|
NM_007294.4(BRCA1):c.1670_1673del (p.Thr557fs)
|
rs1555591390
|
|
|
NM_007294.4(BRCA1):c.1670_1674del (p.Thr557fs)
|
rs2053902770
|
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
|
NM_007294.4(BRCA1):c.1686T>G (p.Ile562Met)
|
rs1268133978
|
|
|
NM_007294.4(BRCA1):c.1701T>G (p.Asn567Lys)
|
rs1555591359
|
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
|
NM_007294.4(BRCA1):c.1709C>A (p.Pro570Gln)
|
rs879254020
|
|
|
NM_007294.4(BRCA1):c.1714G>C (p.Glu572Gln)
|
rs730881473
|
|
|
NM_007294.4(BRCA1):c.1717T>C (p.Ser573Pro)
|
rs876660448
|
|
|
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)
|
rs397508903
|
|
|
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu)
|
rs1064795270
|
|
|
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)
|
rs1064795358
|
|
|
NM_007294.4(BRCA1):c.1776C>T (p.Ser592=)
|
rs876658911
|
|
|
NM_007294.4(BRCA1):c.1786C>G (p.Leu596Val)
|
rs80357371
|
|
|
NM_007294.4(BRCA1):c.1794A>G (p.Leu598=)
|
rs876659644
|
|
|
NM_007294.4(BRCA1):c.1800C>T (p.Ile600=)
|
rs80357452
|
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
|
NM_007294.4(BRCA1):c.1813G>C (p.Ala605Pro)
|
rs587781613
|
|
|
NM_007294.4(BRCA1):c.1817C>T (p.Pro606Leu)
|
rs2154419849
|
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
|
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del)
|
rs587781614
|
|
|
NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs)
|
rs1555591170
|
|
|
NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser)
|
rs80357236
|
|
|
NM_007294.4(BRCA1):c.1828A>C (p.Arg610=)
|
rs398122644
|
|
|
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)
|
rs80357093
|
|
|
NM_007294.4(BRCA1):c.1841A>G (p.Lys614Arg)
|
rs1597873869
|
|
|
NM_007294.4(BRCA1):c.1842G>A (p.Lys614=)
|
rs760109939
|
|
|
NM_007294.4(BRCA1):c.1842G>T (p.Lys614Asn)
|
rs760109939
|
|
|
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala)
|
rs45564238
|
|
|
NM_007294.4(BRCA1):c.1855C>T (p.His619Tyr)
|
rs773212667
|
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
|
NM_007294.4(BRCA1):c.1875A>G (p.Leu625=)
|
rs786201429
|
|
|
NM_007294.4(BRCA1):c.1880T>A (p.Val627Asp)
|
rs770002293
|
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
|
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)
|
rs80356956
|
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
|
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
|
rs397507194
|
|
|
NM_007294.4(BRCA1):c.1931G>C (p.Cys644Ser)
|
rs876658606
|
|
|
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs)
|
rs397508920
|
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
|
NM_007294.4(BRCA1):c.1959_1960delinsG (p.Lys654fs)
|
rs2053853194
|
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
|
NM_007294.4(BRCA1):c.1963_1964delinsAT (p.Tyr655Ile)
|
rs1567797539
|
|
|
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)
|
rs397508926
|
|
|
NM_007294.4(BRCA1):c.1976C>T (p.Pro659Leu)
|
rs1258526903
|
|
|
NM_007294.4(BRCA1):c.1980C>T (p.Val660=)
|
|
|
|
NM_007294.4(BRCA1):c.1984C>T (p.His662Tyr)
|
rs397508927
|
|
|
NM_007294.4(BRCA1):c.198T>C (p.Asn66=)
|
rs878854936
|
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
|
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)
|
rs80357521
|
|
|
NM_007294.4(BRCA1):c.2005A>T (p.Met669Leu)
|
|
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
|
NM_007294.4(BRCA1):c.201T>G (p.Asp67Glu)
|
rs80357033
|
|
|
NM_007294.4(BRCA1):c.2022T>G (p.Pro674=)
|
rs771519405
|
|
|
NM_007294.4(BRCA1):c.2025A>C (p.Ala675=)
|
rs2154403291
|
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
|
NM_007294.4(BRCA1):c.203T>A (p.Ile68Lys)
|
rs80357116
|
|
|
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg)
|
rs80357116
|
|
|
NM_007294.4(BRCA1):c.2065A>G (p.Ser689Gly)
|
rs876660188
|
|
|
NM_007294.4(BRCA1):c.2068_2082del (p.Lys690_Ser694del)
|
rs1555590514
|
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
|
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)
|
rs397508936
|
|
|
NM_007294.4(BRCA1):c.2078_2082delinsGCAGT (p.Asp693Gly)
|
rs2053829800
|
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.2090T>A (p.Phe697Tyr)
|
rs730881476
|
|
|
NM_007294.4(BRCA1):c.2093C>T (p.Pro698Leu)
|
rs1555590478
|
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
|
NM_007294.4(BRCA1):c.212+17T>C
|
rs369461674
|
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
|
NM_007294.4(BRCA1):c.212+1G>C
|
rs80358042
|
|
|
NM_007294.4(BRCA1):c.212+4T>A
|
rs398122652
|
|
|
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe)
|
rs80357182
|
|
|
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)
|
rs80357871
|
|
|
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)
|
rs80356913
|
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
|
NM_007294.4(BRCA1):c.213-14C>G
|
rs1060502337
|
|
|
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=)
|
rs273898678
|
|
|
NM_007294.4(BRCA1):c.213G>T (p.Arg71Ser)
|
rs1441240938
|
|
|
NM_007294.4(BRCA1):c.2147G>C (p.Ser716Thr)
|
rs1555590369
|
|
|
NM_007294.4(BRCA1):c.2155_2163del (p.Lys719_Phe721del)
|
rs863224841
|
|
|
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs)
|
rs80357715
|
|
|
NM_007294.4(BRCA1):c.2162_2163del (p.Phe721fs)
|
rs1555590319
|
|
|
NM_007294.4(BRCA1):c.2182A>G (p.Arg728Gly)
|
rs1555590265
|
|
|
NM_007294.4(BRCA1):c.2183G>C (p.Arg728Thr)
|
rs80357335
|
|
|
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter)
|
rs80357426
|
|
|
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
|
rs397508949
|
|
|
NM_007294.4(BRCA1):c.219A>G (p.Leu73=)
|
rs876659123
|
|
|
NM_007294.4(BRCA1):c.2203C>G (p.Leu735Val)
|
rs587781781
|
|
|
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)
|
rs80357234
|
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
|
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)
|
rs80357415
|
|
|
NM_007294.4(BRCA1):c.2225A>G (p.Asn742Ser)
|
rs1060499618
|
|
|
NM_007294.4(BRCA1):c.2228A>G (p.Asn743Ser)
|
rs1567796489
|
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
|
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=)
|
rs4986846
|
|
|
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs)
|
rs2053797991
|
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
|
NM_007294.4(BRCA1):c.2249T>C (p.Leu750Pro)
|
rs1555590048
|
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
|
NM_007294.4(BRCA1):c.2290G>A (p.Val764Ile)
|
rs768904580
|
|
|
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)
|
rs80357449
|
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
|
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly)
|
rs398122655
|
|
|
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer)
|
rs80357780
|
|
|
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
|
rs80357786
|
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
|
NM_007294.4(BRCA1):c.231G>A (p.Thr77=)
|
rs80356847
|
|
|
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu)
|
rs80356945
|
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
|
NM_007294.4(BRCA1):c.2340G>A (p.Gln780=)
|
rs1555589856
|
|
|
NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter)
|
|
|
|
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala)
|
rs587776482
|
|
|
NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg)
|
rs1555589837
|
|
|
NM_007294.4(BRCA1):c.2346del (p.Ser782fs)
|
rs2053777106
|
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
|
NM_007294.4(BRCA1):c.2350T>G (p.Ser784Ala)
|
rs80357399
|
|
|
NM_007294.4(BRCA1):c.2355A>C (p.Leu785Phe)
|
rs1567795966
|
|
|
NM_007294.4(BRCA1):c.235T>G (p.Phe79Val)
|
rs1597898362
|
|
|
NM_007294.4(BRCA1):c.2360A>G (p.Glu787Gly)
|
|
|
|
NM_007294.4(BRCA1):c.237T>A (p.Phe79Leu)
|
rs2054691161
|
|
|
NM_007294.4(BRCA1):c.2387C>G (p.Thr796Arg)
|
rs80357364
|
|
|
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)
|
rs80357695
|
|
|
NM_007294.4(BRCA1):c.238A>G (p.Ser80Gly)
|
rs2054690791
|
|
|
NM_007294.4(BRCA1):c.2396A>G (p.Asn799Ser)
|
rs587782027
|
|
|
NM_007294.4(BRCA1):c.2396del (p.Asn799fs)
|
rs886040033
|
|
|
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys)
|
rs80357203
|
|
|
NM_007294.4(BRCA1):c.2404G>A (p.Val802Met)
|
rs876660885
|
|
|
NM_007294.4(BRCA1):c.2409T>G (p.Ser803Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
|
NM_007294.4(BRCA1):c.2412G>A (p.Gln804=)
|
rs55746541
|
|
|
NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser)
|
rs80357240
|
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
|
NM_007294.4(BRCA1):c.243A>G (p.Gln81=)
|
rs863224418
|
|
|
NM_007294.4(BRCA1):c.2443del (p.Ile815fs)
|
rs80357598
|
|
|
NM_007294.4(BRCA1):c.2447A>T (p.His816Leu)
|
rs80357108
|
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
|
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)
|
rs397508970
|
|
|
NM_007294.4(BRCA1):c.2483G>T (p.Gly828Val)
|
rs1555589578
|
|
|
NM_007294.4(BRCA1):c.2504A>G (p.His835Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2513del (p.Asn838fs)
|
rs80357863
|
|
|
NM_007294.4(BRCA1):c.2516A>G (p.His839Arg)
|
rs1050289746
|
|
|
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs)
|
rs397508974
|
|
|
NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala)
|
rs80357435
|
|
|
NM_007294.4(BRCA1):c.2536G>A (p.Glu846Lys)
|
rs786203523
|
|
|
NM_007294.4(BRCA1):c.2541G>A (p.Met847Ile)
|
rs80357195
|
|
|
NM_007294.4(BRCA1):c.255G>A (p.Glu85=)
|
rs756499058
|
|
|
NM_007294.4(BRCA1):c.2562T>C (p.Ala854=)
|
rs1182712531
|
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
|
NM_007294.4(BRCA1):c.2567A>G (p.Tyr856Cys)
|
rs864622122
|
|
|
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter)
|
rs80356832
|
|
|
NM_007294.4(BRCA1):c.2569T>C (p.Leu857=)
|
rs779895958
|
|
|
NM_007294.4(BRCA1):c.258A>G (p.Leu86=)
|
rs777491912
|
|
|
NM_007294.4(BRCA1):c.2592A>C (p.Ser864=)
|
|
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
|
NM_007294.4(BRCA1):c.2604A>G (p.Ser868=)
|
rs864622491
|
|
|
NM_007294.4(BRCA1):c.2608G>C (p.Ala870Pro)
|
rs753256448
|
|
|
NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs)
|
rs80357962
|
|
|
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)
|
rs799917
|
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
|
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)
|
rs397508986
|
|
|
NM_007294.4(BRCA1):c.2620A>C (p.Asn874His)
|
rs1064795862
|
|
|
NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs)
|
rs587781423
|
|
|
NM_007294.4(BRCA1):c.2624del (p.Pro875fs)
|
rs2154368003
|
|
|
NM_007294.4(BRCA1):c.2638G>C (p.Glu880Gln)
|
rs587782370
|
|
|
NM_007294.4(BRCA1):c.2643A>T (p.Glu881Asp)
|
|
|
|
NM_007294.4(BRCA1):c.2644T>A (p.Cys882Ser)
|
rs184374817
|
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
|
NM_007294.4(BRCA1):c.2670G>A (p.Gly890=)
|
|
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
|
NM_007294.4(BRCA1):c.2693_2694dup (p.Val899fs)
|
rs80357549
|
|
|
NM_007294.4(BRCA1):c.2694del (p.Val899fs)
|
rs80357549
|
|
|
NM_007294.4(BRCA1):c.269T>C (p.Ile90Thr)
|
rs80357174
|
|
|
NM_007294.4(BRCA1):c.2705A>G (p.Glu902Gly)
|
rs747287311
|
|
|
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)
|
rs80357731
|
|
|
NM_007294.4(BRCA1):c.271T>C (p.Cys91Arg)
|
rs786203939
|
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
|
NM_007294.4(BRCA1):c.2738A>G (p.Asn913Ser)
|
rs199954851
|
|
|
NM_007294.4(BRCA1):c.2742G>A (p.Glu914=)
|
rs961042365
|
|
|
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)
|
rs80357540
|
|
|
NM_007294.4(BRCA1):c.2745T>G (p.Ser915=)
|
rs876658748
|
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
|
NM_007294.4(BRCA1):c.2749A>G (p.Ile917Val)
|
rs1334134701
|
|
|
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs)
|
rs80357661
|
|
|
NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val)
|
rs4986847
|
|
|
NM_007294.4(BRCA1):c.2795T>C (p.Val932Ala)
|
rs2154359210
|
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
|
NM_007294.4(BRCA1):c.2802del (p.Asp936fs)
|
rs2053694038
|
|
|
NM_007294.4(BRCA1):c.2806_2807del (p.Lys935_Asp936insTer)
|
rs886038004
|
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
|
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)
|
rs886037972
|
|
|
NM_007294.4(BRCA1):c.2814A>C (p.Pro938=)
|
rs80356851
|
|
|
NM_007294.4(BRCA1):c.2815G>T (p.Val939Phe)
|
|
|
|
NM_007294.4(BRCA1):c.282G>T (p.Gln94His)
|
rs1597898117
|
|
|
NM_007294.4(BRCA1):c.2831G>A (p.Cys944Tyr)
|
rs770769275
|
|
|
NM_007294.4(BRCA1):c.2834G>C (p.Ser945Thr)
|
rs746727823
|
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
|
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)
|
rs80357519
|
|
|
NM_007294.4(BRCA1):c.2836A>T (p.Ile946Phe)
|
rs876660901
|
|
|
NM_007294.4(BRCA1):c.2860_2864del (p.Leu954fs)
|
rs1597867185
|
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
|
NM_007294.4(BRCA1):c.2862ATC[1] (p.Ser956del)
|
rs1567793980
|
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
|
NM_007294.4(BRCA1):c.2868del (p.Gln957fs)
|
rs80357929
|
|
|
NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn)
|
rs80357110
|
|
|
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs)
|
rs80357890
|
|
|
NM_007294.4(BRCA1):c.2893C>G (p.Leu965Val)
|
rs1060502344
|
|
|
NM_007294.4(BRCA1):c.2893C>T (p.Leu965Phe)
|
rs1060502344
|
|
|
NM_007294.4(BRCA1):c.2895C>A (p.Leu965=)
|
rs1555588774
|
|
|
NM_007294.4(BRCA1):c.28G>A (p.Glu10Lys)
|
rs2055737833
|
|
|
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs)
|
rs398122670
|
|
|
NM_007294.4(BRCA1):c.2905A>G (p.Asn969Asp)
|
rs587781641
|
|
|
NM_007294.4(BRCA1):c.290C>T (p.Thr97Ile)
|
rs431825393
|
|
|
NM_007294.4(BRCA1):c.2910A>G (p.Lys970=)
|
rs431825394
|
|
|
NM_007294.4(BRCA1):c.2913T>C (p.His971=)
|
rs786203804
|
|
|
NM_007294.4(BRCA1):c.2933A>G (p.Tyr978Cys)
|
rs863224756
|
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
|
NM_007294.4(BRCA1):c.2953C>T (p.Pro985Ser)
|
rs1555588649
|
|
|
NM_007294.4(BRCA1):c.2959A>G (p.Lys987Glu)
|
rs878854941
|
|
|
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)
|
rs878854941
|
|
|
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=)
|
rs1064796061
|
|
|
NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg)
|
rs144853230
|
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
|
NM_007294.4(BRCA1):c.2990_3971dup (p.Met1324delinsIleSerAlaArgGlyLysLeuTer)
|
rs2053492284
|
|
|
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys)
|
rs80357124
|
|
|
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)
|
rs80358333
|
|
|
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)
|
rs80357991
|
|
|
NM_007294.4(BRCA1):c.2T>G (p.Met1Arg)
|
rs80357111
|
|
|
NM_007294.4(BRCA1):c.3001G>A (p.Glu1001Lys)
|
rs886038007
|
|
|
NM_007294.4(BRCA1):c.3003A>G (p.Glu1001=)
|
rs774644946
|
|
|
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)
|
rs80357601
|
|
|
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
|
rs80357617
|
|
|
NM_007294.4(BRCA1):c.301+11A>C
|
rs1555596621
|
|
|
NM_007294.4(BRCA1):c.301+2dup
|
rs273899694
|
|
|
NM_007294.4(BRCA1):c.3018T>C (p.His1006=)
|
rs1567793232
|
|
|
NM_007294.4(BRCA1):c.302-1G>C
|
rs80358116
|
|
|
NM_007294.4(BRCA1):c.302-5T>C
|
rs778668665
|
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
|
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)
|
rs80356936
|
|
|
NM_007294.4(BRCA1):c.3042G>A (p.Met1014Ile)
|
rs1555588493
|
|
|
NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser)
|
rs1567793093
|
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
|
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn)
|
rs757579891
|
|
|
NM_007294.4(BRCA1):c.3079_3080delinsGA (p.Ser1027Asp)
|
rs1567793005
|
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
|
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu)
|
rs80357459
|
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
|
NM_007294.4(BRCA1):c.3096_3098delinsGT (p.Arg1032_Glu1033insTer)
|
rs2154342721
|
|
|
NM_007294.4(BRCA1):c.3105T>G (p.Val1035=)
|
rs1452354450
|
|
|
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)
|
rs80357841
|
|
|
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)
|
rs16941
|
|
|
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
|
rs80356899
|
|
|
NM_007294.4(BRCA1):c.3151A>G (p.Thr1051Ala)
|
rs398122671
|
|
|
NM_007294.4(BRCA1):c.3159A>C (p.Glu1053Asp)
|
rs1567792698
|
|
|
NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe)
|
rs587781588
|
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
|
NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter)
|
rs1555588220
|
|
|
NM_007294.4(BRCA1):c.3213A>G (p.Glu1071=)
|
rs528254652
|
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
|
NM_007294.4(BRCA1):c.3245C>T (p.Ala1082Val)
|
rs1555588115
|
|
|
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)
|
rs397507213
|
|
|
NM_007294.4(BRCA1):c.3255_3256del (p.Arg1085fs)
|
rs2053618983
|
|
|
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)
|
rs80357006
|
|
|
NM_007294.4(BRCA1):c.3267G>A (p.Leu1089=)
|
rs767544239
|
|
|
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter)
|
rs80357402
|
|
|
NM_007294.4(BRCA1):c.3269A>G (p.Gln1090Arg)
|
rs1555588045
|
|
|
NM_007294.4(BRCA1):c.3270A>G (p.Gln1090=)
|
rs369925993
|
|
|
NM_007294.4(BRCA1):c.3270A>T (p.Gln1090His)
|
rs369925993
|
|
|
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs)
|
rs80357686
|
|
|
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)
|
rs80357686
|
|
|
NM_007294.4(BRCA1):c.329A>G (p.Lys110Arg)
|
|
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
|
NM_007294.4(BRCA1):c.3319G>A (p.Glu1107Lys)
|
|
|
|
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)
|
rs80357575
|
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
|
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs)
|
rs80357575
|
|
|
NM_007294.4(BRCA1):c.332A>T (p.Glu111Val)
|
rs80357312
|
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
|
NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter)
|
rs80357278
|
|
|
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del)
|
rs80358336
|
|
|
NM_007294.4(BRCA1):c.3341AAG[3] (p.Glu1115_Val1116insGlu)
|
rs80358336
|
|
|
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)
|
rs397509058
|
|
|
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)
|
rs80357785
|
|
|
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter)
|
rs397507215
|
|
|
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His)
|
rs80357334
|
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
|
NM_007294.4(BRCA1):c.3368A>T (p.Asp1123Val)
|
rs1555587851
|
|
|
NM_007294.4(BRCA1):c.3372C>T (p.Phe1124=)
|
rs786203431
|
|
|
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs)
|
rs80357828
|
|
|
NM_007294.4(BRCA1):c.3379T>C (p.Tyr1127His)
|
rs1451089848
|
|
|
NM_007294.4(BRCA1):c.3392A>G (p.Asp1131Gly)
|
rs1555587813
|
|
|
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs)
|
rs80357577
|
|
|
NM_007294.4(BRCA1):c.3400G>A (p.Glu1134Lys)
|
rs80357018
|
|
|
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)
|
rs80357018
|
|
|
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)
|
rs80357136
|
|
|
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)
|
rs80357297
|
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
|
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe)
|
rs431825396
|
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
|
NM_007294.4(BRCA1):c.343C>T (p.Pro115Ser)
|
rs1468589409
|
|
|
NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)
|
rs80357808
|
|
|
NM_007294.4(BRCA1):c.3454G>C (p.Asp1152His)
|
rs80357175
|
|
|
NM_007294.4(BRCA1):c.3458T>C (p.Leu1153Pro)
|
rs1597863549
|
|
|
NM_007294.4(BRCA1):c.3465T>C (p.Asp1155=)
|
rs1567791539
|
|
|
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)
|
rs1555587638
|
|
|
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs)
|
rs80357781
|
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
|
NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer)
|
rs397509078
|
|
|
NM_007294.4(BRCA1):c.3519T>C (p.Ser1173=)
|
rs1597863152
|
|
|
NM_007294.4(BRCA1):c.3524C>T (p.Ala1175Val)
|
rs1567791322
|
|
|
NM_007294.4(BRCA1):c.353T>G (p.Leu118Arg)
|
rs2054632458
|
|
|
NM_007294.4(BRCA1):c.3541G>T (p.Val1181Phe)
|
rs56336919
|
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
|
NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe)
|
rs1555587505
|
|
|
NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile)
|
rs80357290
|
|
|
NM_007294.4(BRCA1):c.3583del (p.His1195fs)
|
rs273900710
|
|
|
NM_007294.4(BRCA1):c.3584A>G (p.His1195Arg)
|
rs28897685
|
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
|
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs)
|
rs80357980
|
|
|
NM_007294.4(BRCA1):c.3616G>T (p.Ala1206Ser)
|
rs1555587407
|
|
|
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)
|
rs80357571
|
|
|
NM_007294.4(BRCA1):c.3632C>G (p.Ser1211Cys)
|
rs1555587377
|
|
|
NM_007294.4(BRCA1):c.3636A>T (p.Ser1212=)
|
rs148038877
|
|
|
NM_007294.4(BRCA1):c.3640G>C (p.Glu1214Gln)
|
rs80356923
|
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
|
NM_007294.4(BRCA1):c.3642G>C (p.Glu1214Asp)
|
rs398122675
|
|
|
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)
|
rs80357805
|
|
|
NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter)
|
rs397509091
|
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
|
NM_007294.4(BRCA1):c.364G>C (p.Val122Leu)
|
rs1555596409
|
|
|
NM_007294.4(BRCA1):c.3660T>C (p.Asp1220=)
|
rs1365746397
|
|
|
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)
|
rs80357310
|
|
|
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter)
|
rs80357356
|
|
|
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs)
|
rs80357797
|
|
|
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)
|
rs398122677
|
|
|
NM_007294.4(BRCA1):c.3674G>C (p.Cys1225Ser)
|
rs1567790638
|
|
|
NM_007294.4(BRCA1):c.369T>C (p.Ser123=)
|
rs774583925
|
|
|
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu)
|
rs763354142
|
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
|
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)
|
rs797044631
|
|
|
NM_007294.4(BRCA1):c.3708T>C (p.Asn1236=)
|
rs28897687
|
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
|
NM_007294.4(BRCA1):c.3717del (p.Gln1240fs)
|
|
|
|
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr)
|
rs80357143
|
|
|
NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs)
|
rs80359882
|
|
|
NM_007294.4(BRCA1):c.3735C>T (p.Ser1245=)
|
rs1567790391
|
|
|
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn)
|
rs878854949
|
|
|
NM_007294.4(BRCA1):c.3747C>G (p.Thr1249=)
|
rs587780801
|
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
|
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)
|
rs80357687
|
|
|
NM_007294.4(BRCA1):c.3761_3764del (p.Lys1254fs)
|
rs2053528623
|
|
|
NM_007294.4(BRCA1):c.3767_3768del (p.Thr1256fs)
|
rs730881440
|
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
|
NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs)
|
rs397507218
|
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
|
NM_007294.4(BRCA1):c.3792G>A (p.Lys1264=)
|
rs894781955
|
|
|
NM_007294.4(BRCA1):c.3792G>C (p.Lys1264Asn)
|
rs894781955
|
|
|
NM_007294.4(BRCA1):c.379del (p.Ser127fs)
|
rs1555596373
|
|
|
NM_007294.4(BRCA1):c.3807C>T (p.Asp1269=)
|
rs786202569
|
|
|
NM_007294.4(BRCA1):c.3825dup (p.Leu1276fs)
|
rs397507220
|
|
|
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)
|
rs80357842
|
|
|
NM_007294.4(BRCA1):c.3865del (p.Thr1289fs)
|
rs2053509532
|
|
|
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)
|
rs80357254
|
|
|
NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs)
|
rs80357918
|
|
|
NM_007294.4(BRCA1):c.3877_3879del (p.Ala1293del)
|
rs1555586867
|
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
|
NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys)
|
rs56055578
|
|
|
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe)
|
rs56055578
|
|
|
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)
|
rs1064793054
|
|
|
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)
|
rs80357461
|
|
|
NM_007294.4(BRCA1):c.3910G>C (p.Glu1304Gln)
|
|
|
|
NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val)
|
rs431825402
|
|
|
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)
|
rs80357207
|
|
|
NM_007294.4(BRCA1):c.3925A>G (p.Asn1309Asp)
|
rs2053499636
|
|
|
NM_007294.4(BRCA1):c.3928A>G (p.Thr1310Ala)
|
rs2053499046
|
|
|
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)
|
rs80357318
|
|
|
NM_007294.4(BRCA1):c.3945T>C (p.Pro1315=)
|
rs2154275582
|
|
|
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys)
|
rs386833394
|
|
|
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
|
rs80357343
|
|
|
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg)
|
rs80357042
|
|
|
NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu)
|
rs587782241
|
|
|
NM_007294.4(BRCA1):c.3975G>A (p.Arg1325=)
|
rs761424661
|
|
|
NM_007294.4(BRCA1):c.3982T>C (p.Ser1328Pro)
|
|
|
|
NM_007294.4(BRCA1):c.3985G>A (p.Glu1329Lys)
|
rs876659467
|
|
|
NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val)
|
rs730881490
|
|
|
NM_007294.4(BRCA1):c.4008dup (p.Asp1337Ter)
|
rs2053486046
|
|
|
NM_007294.4(BRCA1):c.4013A>G (p.Lys1338Arg)
|
rs1555586661
|
|
|
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)
|
rs80357021
|
|
|
NM_007294.4(BRCA1):c.4026A>C (p.Ser1342=)
|
rs80356828
|
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
|
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)
|
rs748674194
|
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
|
NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val)
|
rs879254228
|
|
|
NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter)
|
rs80357178
|
|
|
NM_007294.4(BRCA1):c.4061A>G (p.Asn1354Ser)
|
rs767246037
|
|
|
NM_007294.4(BRCA1):c.4063A>G (p.Asn1355Asp)
|
rs876660530
|
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
|
NM_007294.4(BRCA1):c.4074G>A (p.Glu1358=)
|
rs80356846
|
|
|
NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys)
|
rs80357456
|
|
|
NM_007294.4(BRCA1):c.4080C>G (p.Ser1360Arg)
|
rs2053471401
|
|
|
NM_007294.4(BRCA1):c.4081A>G (p.Met1361Val)
|
rs80357218
|
|
|
NM_007294.4(BRCA1):c.4096+15T>C
|
rs1567788912
|
|
|
NM_007294.4(BRCA1):c.4096+17T>C
|
rs1555586455
|
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
|
NM_007294.4(BRCA1):c.4096G>A (p.Gly1366Ser)
|
rs431825405
|
|
|
NM_007294.4(BRCA1):c.4097-11T>G
|
rs80358072
|
|
|
NM_007294.4(BRCA1):c.4097G>A (p.Gly1366Asp)
|
rs876660948
|
|
|
NM_007294.4(BRCA1):c.4099G>A (p.Glu1367Lys)
|
rs786202998
|
|
|
NM_007294.4(BRCA1):c.4111G>C (p.Gly1371Arg)
|
rs774593602
|
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
|
NM_007294.4(BRCA1):c.4119G>A (p.Glu1373=)
|
rs2154256792
|
|
|
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)
|
rs80357787
|
|
|
NM_007294.4(BRCA1):c.4133T>C (p.Val1378Ala)
|
rs1567788422
|
|
|
NM_007294.4(BRCA1):c.4163dup (p.Ser1389fs)
|
rs80357788
|
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
|
NM_007294.4(BRCA1):c.4178C>G (p.Thr1393Ser)
|
rs1555586071
|
|
|
NM_007294.4(BRCA1):c.4179C>T (p.Thr1393=)
|
rs753735698
|
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
|
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg)
|
rs80356972
|
|
|
NM_007294.4(BRCA1):c.4185+10G>A
|
rs80358104
|
|
|
NM_007294.4(BRCA1):c.4185+10G>T
|
|
|
|
NM_007294.4(BRCA1):c.4185+16G>A
|
rs774646943
|
|
|
NM_007294.4(BRCA1):c.4185+16G>C
|
rs774646943
|
|
|
NM_007294.4(BRCA1):c.4185+1G>C
|
rs80358076
|
|
|
NM_007294.4(BRCA1):c.4185+2_4185+21del
|
rs2154249606
|
|
|
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA
|
rs273900724
|
|
|
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
|
rs80356857
|
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
|
NM_007294.4(BRCA1):c.4197C>G (p.Thr1399=)
|
rs876659552
|
|
|
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)
|
rs80356916
|
|
|
NM_007294.4(BRCA1):c.4211del (p.Leu1404fs)
|
rs1555584251
|
|
|
NM_007294.4(BRCA1):c.4230A>G (p.Glu1410=)
|
rs1555584217
|
|
|
NM_007294.4(BRCA1):c.423A>G (p.Glu141=)
|
rs777102216
|
|
|
NM_007294.4(BRCA1):c.4250del (p.Val1417fs)
|
rs587782879
|
|
|
NM_007294.4(BRCA1):c.4253T>C (p.Leu1418Ser)
|
rs397509157
|
|
|
NM_007294.4(BRCA1):c.4253del (p.Val1417_Leu1418insTer)
|
rs2154155295
|
|
|
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln)
|
rs80357309
|
|
|
NM_007294.4(BRCA1):c.4269C>T (p.Ser1423=)
|
rs786202278
|
|
|
NM_007294.4(BRCA1):c.426C>T (p.Pro142=)
|
rs542687218
|
|
|
NM_007294.4(BRCA1):c.427G>C (p.Glu143Gln)
|
rs80356991
|
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
|
NM_007294.4(BRCA1):c.4288C>T (p.Pro1430Ser)
|
rs80357466
|
|
|
NM_007294.4(BRCA1):c.4289C>T (p.Pro1430Leu)
|
rs1597847973
|
|
|
NM_007294.4(BRCA1):c.42C>T (p.Val14=)
|
rs80356827
|
|
|
NM_007294.4(BRCA1):c.4317T>C (p.Leu1439=)
|
rs2154148532
|
|
|
NM_007294.4(BRCA1):c.4319A>G (p.Glu1440Gly)
|
rs786202288
|
|
|
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)
|
rs41293455
|
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
|
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)
|
rs876660684
|
|
|
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs)
|
rs397509164
|
|
|
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
|
NM_007294.4(BRCA1):c.4358-12T>C
|
rs2154074579
|
|
|
NM_007294.4(BRCA1):c.4358-13A>G
|
rs1567780008
|
|
|
NM_007294.4(BRCA1):c.4358-2del
|
rs1353755235
|
|
|
NM_007294.4(BRCA1):c.4358-4A>G
|
rs1567779976
|
|
|
NM_007294.4(BRCA1):c.4379G>A (p.Ser1460Asn)
|
rs397509167
|
|
|
NM_007294.4(BRCA1):c.4379del (p.Ser1460fs)
|
rs786203149
|
|
|
NM_007294.4(BRCA1):c.4382_4388dup (p.Tyr1463Ter)
|
rs1567779838
|
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
|
NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer)
|
rs1064793577
|
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
|
NM_007294.4(BRCA1):c.441+17T>C
|
rs368415464
|
|
|
NM_007294.4(BRCA1):c.441+18_441+21delinsT
|
rs1555596265
|
|
|
NM_007294.4(BRCA1):c.441+1G>C
|
|
|
|
NM_007294.4(BRCA1):c.441+6dup
|
rs1060504561
|
|
|
NM_007294.4(BRCA1):c.441+9A>G
|
rs1555596273
|
|
|
NM_007294.4(BRCA1):c.442-17T>C
|
rs1555595010
|
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
|
NM_007294.4(BRCA1):c.4441G>A (p.Ala1481Thr)
|
rs1135401828
|
|
|
NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile)
|
rs80356870
|
|
|
NM_007294.4(BRCA1):c.4460A>G (p.Lys1487Arg)
|
rs80357126
|
|
|
NM_007294.4(BRCA1):c.4471C>T (p.Pro1491Ser)
|
rs111034213
|
|
|
NM_007294.4(BRCA1):c.4481A>C (p.Glu1494Ala)
|
|
|
|
NM_007294.4(BRCA1):c.4481A>G (p.Glu1494Gly)
|
rs758779691
|
|
|
NM_007294.4(BRCA1):c.4484+10A>G
|
rs80358077
|
|
|
NM_007294.4(BRCA1):c.4484+1G>T
|
rs80358063
|
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
|
NM_007294.4(BRCA1):c.44T>C (p.Ile15Thr)
|
rs80357316
|
|
|
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)
|
rs747539984
|
|
|
NM_007294.4(BRCA1):c.4503C>T (p.Cys1501=)
|
rs747539984
|
|
|
NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter)
|
rs80357437
|
|
|
NM_007294.4(BRCA1):c.4510T>G (p.Leu1504Val)
|
rs1567778337
|
|
|
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs)
|
rs273900736
|
|
|
NM_007294.4(BRCA1):c.4521G>A (p.Arg1507=)
|
rs1435385135
|
|
|
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)
|
rs786202631
|
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
|
NM_007294.4(BRCA1):c.4527C>T (p.Tyr1509=)
|
rs886040233
|
|
|
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs)
|
rs80357534
|
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
|
NM_007294.4(BRCA1):c.4568C>T (p.Pro1523Leu)
|
rs1555581955
|
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
|
NM_007294.4(BRCA1):c.459T>C (p.Ser153=)
|
rs1555594962
|
|
|
NM_007294.4(BRCA1):c.45del (p.Asn16fs)
|
rs730881457
|
|
|
NM_007294.4(BRCA1):c.45dup (p.Asn16Ter)
|
rs730881457
|
|
|
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)
|
rs80357915
|
|
|
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter)
|
rs80356992
|
|
|
NM_007294.4(BRCA1):c.4614G>A (p.Gln1538=)
|
rs1555581876
|
|
|
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs)
|
rs1567777811
|
|
|
NM_007294.4(BRCA1):c.4631C>T (p.Pro1544Leu)
|
rs80356917
|
|
|
NM_007294.4(BRCA1):c.4639T>G (p.Leu1547Val)
|
rs730881492
|
|
|
NM_007294.4(BRCA1):c.4643del (p.Thr1548fs)
|
rs2153993720
|
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
|
NM_007294.4(BRCA1):c.4655A>G (p.Tyr1552Cys)
|
rs2052589802
|
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
|
NM_007294.4(BRCA1):c.465A>C (p.Gln155His)
|
rs864622260
|
|
|
NM_007294.4(BRCA1):c.4668A>C (p.Gln1556His)
|
rs1485442602
|
|
|
NM_007294.4(BRCA1):c.466C>A (p.Leu156Ile)
|
rs587778115
|
|
|
NM_007294.4(BRCA1):c.4670A>G (p.Asp1557Gly)
|
rs869320779
|
|
|
NM_007294.4(BRCA1):c.4671T>C (p.Asp1557=)
|
rs1597835696
|
|
|
NM_007294.4(BRCA1):c.4675+3A>G
|
rs80358082
|
|
|
NM_007294.4(BRCA1):c.4683C>T (p.Thr1561=)
|
rs878853265
|
|
|
NM_007294.4(BRCA1):c.4693G>A (p.Glu1565Lys)
|
rs863224762
|
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
|
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer)
|
rs80357718
|
|
|
NM_007294.4(BRCA1):c.4713C>G (p.Phe1571Leu)
|
rs768945711
|
|
|
NM_007294.4(BRCA1):c.4713C>T (p.Phe1571=)
|
rs768945711
|
|
|
NM_007294.4(BRCA1):c.4716T>G (p.Ser1572=)
|
rs2052422336
|
|
|
NM_007294.4(BRCA1):c.4731T>A (p.Ser1577=)
|
rs1555581028
|
|
|
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly)
|
rs80356930
|
|
|
NM_007294.4(BRCA1):c.4748G>C (p.Arg1583Thr)
|
rs752624544
|
|
|
NM_007294.4(BRCA1):c.4765C>G (p.Arg1589Gly)
|
rs80357002
|
|
|
NM_007294.4(BRCA1):c.4768del (p.Val1590fs)
|
rs2153864590
|
|
|
NM_007294.4(BRCA1):c.4780C>T (p.Pro1594Ser)
|
rs587782012
|
|
|
NM_007294.4(BRCA1):c.4781del (p.Pro1594fs)
|
rs2052409873
|
|
|
NM_007294.4(BRCA1):c.4790C>A (p.Thr1597Asn)
|
rs587781623
|
|
|
NM_007294.4(BRCA1):c.4797A>G (p.Ala1599=)
|
rs749609930
|
|
|
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del)
|
rs80359888
|
|
|
NM_007294.4(BRCA1):c.4808C>T (p.Pro1603Leu)
|
rs1064794054
|
|
|
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)
|
rs1555580840
|
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
|
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)
|
rs1799966
|
|
|
NM_007294.4(BRCA1):c.4854T>C (p.His1618=)
|
rs750718476
|
|
|
NM_007294.4(BRCA1):c.485_486del (p.Val162fs)
|
rs80357708
|
|
|
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=)
|
rs750938749
|
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
|
NM_007294.4(BRCA1):c.4870_4871insA (p.Gly1624fs)
|
rs2052392843
|
|
|
NM_007294.4(BRCA1):c.4881A>G (p.Ala1627=)
|
rs1425743425
|
|
|
NM_007294.4(BRCA1):c.4884G>T (p.Met1628Ile)
|
rs80357158
|
|
|
NM_007294.4(BRCA1):c.4897A>G (p.Ser1633Gly)
|
rs1555580711
|
|
|
NM_007294.4(BRCA1):c.4935G>T (p.Arg1645Ser)
|
rs80357373
|
|
|
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys)
|
rs80357302
|
|
|
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro)
|
rs879254042
|
|
|
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu)
|
rs80357261
|
|
|
NM_007294.4(BRCA1):c.4959G>A (p.Val1653=)
|
rs878854955
|
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
|
NM_007294.4(BRCA1):c.4971G>A (p.Leu1657=)
|
rs786202058
|
|
|
NM_007294.4(BRCA1):c.4973C>A (p.Thr1658Asn)
|
rs1015073230
|
|
|
NM_007294.4(BRCA1):c.4981G>A (p.Glu1661Lys)
|
rs80357401
|
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
|
NM_007294.4(BRCA1):c.4986+4A>C
|
rs80358087
|
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
|
NM_007294.4(BRCA1):c.4987-10T>G
|
rs1555579828
|
|
|
NM_007294.4(BRCA1):c.4992C>A (p.Leu1664=)
|
rs142459158
|
|
|
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)
|
rs876658947
|
|
|
NM_007294.4(BRCA1):c.5000A>G (p.Lys1667Arg)
|
rs1057519495
|
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
|
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
|
rs80357623
|
|
|
NM_007294.4(BRCA1):c.5041A>C (p.Thr1681Pro)
|
rs876659314
|
|
|
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)
|
rs80356958
|
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
|
NM_007294.4(BRCA1):c.5065A>C (p.Met1689Leu)
|
rs1555579619
|
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
|
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)
|
rs397509219
|
|
|
NM_007294.4(BRCA1):c.5071dup (p.Thr1691fs)
|
rs80357672
|
|
|
NM_007294.4(BRCA1):c.5074+19C>T
|
rs2052152874
|
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
|
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)
|
rs80357760
|
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
|
NM_007294.4(BRCA1):c.5091_5092del (p.Cys1697_Glu1698delinsTer)
|
rs80357710
|
|
|
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter)
|
rs2051929740
|
|
|
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)
|
rs55770810
|
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
|
NM_007294.4(BRCA1):c.5097G>A (p.Arg1699=)
|
rs2051927969
|
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
|
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)
|
rs863224763
|
|
|
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
|
NM_007294.4(BRCA1):c.5125G>A (p.Gly1709Arg)
|
rs886038197
|
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
|
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
|
|
NM_007294.4(BRCA1):c.5151C>T (p.Phe1717=)
|
rs2051906420
|
|
|
NM_007294.4(BRCA1):c.5152+1G>A
|
rs80358094
|
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
|
NM_007294.4(BRCA1):c.5152+5G>T
|
rs80358165
|
|
|
NM_007294.4(BRCA1):c.5152+6T>G
|
rs80358074
|
|
|
NM_007294.4(BRCA1):c.5152+7A>G
|
rs80358046
|
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
|
NM_007294.4(BRCA1):c.5153-11G>T
|
rs1057521674
|
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
|
NM_007294.4(BRCA1):c.5153-8C>A
|
rs1060504570
|
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
|
NM_007294.4(BRCA1):c.5155G>A (p.Val1719Met)
|
rs749465132
|
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
|
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp)
|
rs191373374
|
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
|
NM_007294.4(BRCA1):c.5182del (p.Met1728fs)
|
rs34570933
|
|
|
NM_007294.4(BRCA1):c.5193+10T>C
|
rs1567768548
|
|
|
NM_007294.4(BRCA1):c.5193+15T>A
|
rs2051850619
|
|
|
NM_007294.4(BRCA1):c.5193+19A>G
|
rs1555578276
|
|
|
NM_007294.4(BRCA1):c.5193+1G>T
|
rs80358004
|
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
|
NM_007294.4(BRCA1):c.5193+3A>G
|
rs1060502326
|
|
|
NM_007294.4(BRCA1):c.5193+6T>C
|
rs1555578283
|
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
|
NM_007294.4(BRCA1):c.5194-1G>A
|
rs80358173
|
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
|
NM_007294.4(BRCA1):c.5196T>C (p.His1732=)
|
rs1567764670
|
|
|
NM_007294.4(BRCA1):c.5197G>A (p.Asp1733Asn)
|
rs398122693
|
|
|
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)
|
rs80357270
|
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
|
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)
|
rs45553935
|
|
|
NM_007294.4(BRCA1):c.520del (p.Gln174fs)
|
rs80357639
|
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
|
NM_007294.4(BRCA1):c.5220G>A (p.Val1740=)
|
rs2153389068
|
|
|
NM_007294.4(BRCA1):c.5228G>C (p.Gly1743Ala)
|
rs1346819781
|
|
|
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)
|
rs483353071
|
|
|
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)
|
rs80357367
|
|
|
NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu)
|
rs1567806027
|
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
|
NM_007294.4(BRCA1):c.5243G>T (p.Gly1748Val)
|
rs397509243
|
|
|
NM_007294.4(BRCA1):c.5259A>G (p.Arg1753=)
|
rs771577266
|
|
|
NM_007294.4(BRCA1):c.525G>A (p.Lys175=)
|
rs1555594837
|
|
|
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)
|
rs397509247
|
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
|
NM_007294.4(BRCA1):c.5269G>A (p.Asp1757Asn)
|
rs863224764
|
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
|
NM_007294.4(BRCA1):c.5278-1G>T
|
rs80358099
|
|
|
NM_007294.4(BRCA1):c.5280C>A (p.Ile1760=)
|
rs750040616
|
|
|
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
|
NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val)
|
rs886039314
|
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
|
NM_007294.4(BRCA1):c.52A>G (p.Met18Val)
|
rs2055727017
|
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
|
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)
|
rs587781825
|
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
|
NM_007294.4(BRCA1):c.5332+19C>A
|
rs774813458
|
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
|
NM_007294.4(BRCA1):c.5333-18T>G
|
rs1555575227
|
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
|
NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp)
|
rs1555575182
|
|
|
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter)
|
rs80357219
|
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
|
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
|
rs786203663
|
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
|
NM_007294.4(BRCA1):c.5376G>A (p.Val1792=)
|
rs1060504569
|
|
|
NM_007294.4(BRCA1):c.5378A>C (p.Lys1793Thr)
|
rs730881446
|
|
|
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)
|
rs80357055
|
|
|
NM_007294.4(BRCA1):c.5387C>T (p.Ser1796Leu)
|
rs80357055
|
|
|
NM_007294.4(BRCA1):c.5388A>G (p.Ser1796=)
|
rs373810778
|
|
|
NM_007294.4(BRCA1):c.5398del (p.Gly1801fs)
|
rs1064794662
|
|
|
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)
|
rs80356929
|
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
|
NM_007294.4(BRCA1):c.5401G>C (p.Gly1801Arg)
|
rs587776492
|
|
|
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=)
|
rs879255493
|
|
|
NM_007294.4(BRCA1):c.5407-1G>C
|
rs80358029
|
|
|
NM_007294.4(BRCA1):c.5407-4C>G
|
rs876660347
|
|
|
NM_007294.4(BRCA1):c.5407G>A (p.Gly1803Ser)
|
rs876659510
|
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
|
NM_007294.4(BRCA1):c.5444G>C (p.Trp1815Ser)
|
rs80356962
|
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
|
NM_007294.4(BRCA1):c.5467+19C>T
|
rs2050971735
|
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
|
NM_007294.4(BRCA1):c.5468-10C>T
|
rs8176316
|
|
|
NM_007294.4(BRCA1):c.5468-10_5468-9del
|
rs273902770
|
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
|
NM_007294.4(BRCA1):c.547+14G>A
|
rs932782447
|
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
|
NM_007294.4(BRCA1):c.547+1G>C
|
rs80358030
|
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
|
NM_007294.4(BRCA1):c.5476C>T (p.Gln1826Ter)
|
rs587782887
|
|
|
NM_007294.4(BRCA1):c.548-11A>G
|
|
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
|
NM_007294.4(BRCA1):c.548G>T (p.Gly183Val)
|
rs1555594081
|
|
|
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)
|
rs587782778
|
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
|
NM_007294.4(BRCA1):c.5502_5503del (p.Glu1836fs)
|
|
|
|
NM_007294.4(BRCA1):c.5504G>C (p.Arg1835Pro)
|
rs273902776
|
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
|
NM_007294.4(BRCA1):c.550T>A (p.Ser184Thr)
|
rs1064795269
|
|
|
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)
|
rs80357307
|
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
|
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)
|
rs1597796956
|
|
|
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)
|
rs80357019
|
|
|
NM_007294.4(BRCA1):c.5529_5530delinsCA (p.Leu1844Ile)
|
rs1555574389
|
|
|
NM_007294.4(BRCA1):c.552dup (p.Asp185Ter)
|
rs1555594073
|
|
|
NM_007294.4(BRCA1):c.5533dup (p.Tyr1845fs)
|
rs397509294
|
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
|
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)
|
rs80356849
|
|
|
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)
|
rs397509295
|
|
|
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)
|
rs2050860958
|
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
|
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs)
|
rs1555574355
|
|
|
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del)
|
rs397507253
|
|
|
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
|
rs886039675
|
|
|
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del)
|
rs775417240
|
|
|
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu)
|
rs765656957
|
|
|
NM_007294.4(BRCA1):c.5575C>T (p.Pro1859Ser)
|
rs1555574342
|
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
|
NM_007294.4(BRCA1):c.572T>A (p.Val191Asp)
|
rs80357142
|
|
|
NM_007294.4(BRCA1):c.587A>T (p.Tyr196Phe)
|
rs1555594039
|
|
|
NM_007294.4(BRCA1):c.594-10T>C
|
rs1044086308
|
|
|
NM_007294.4(BRCA1):c.594-12T>G
|
rs1555593633
|
|
|
NM_007294.4(BRCA1):c.594-20A>G
|
rs80358017
|
|
|
NM_007294.4(BRCA1):c.600A>G (p.Gly200=)
|
rs1555593617
|
|
|
NM_007294.4(BRCA1):c.60A>G (p.Lys20=)
|
rs202168814
|
|
|
NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter)
|
rs1555593598
|
|
|
NM_007294.4(BRCA1):c.626C>T (p.Pro209Leu)
|
rs201596327
|
|
|
NM_007294.4(BRCA1):c.630A>G (p.Gln210=)
|
rs1555593567
|
|
|
NM_007294.4(BRCA1):c.640G>A (p.Asp214Asn)
|
rs786203797
|
|
|
NM_007294.4(BRCA1):c.650G>A (p.Ser217Asn)
|
|
|
|
NM_007294.4(BRCA1):c.656A>T (p.Asp219Val)
|
rs2054110068
|
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
|
NM_007294.4(BRCA1):c.670+3A>T
|
rs1555593531
|
|
|
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)
|
rs431825419
|
|
|
NM_007294.4(BRCA1):c.671-12del
|
rs273902781
|
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
|
NM_007294.4(BRCA1):c.671-6T>G
|
rs878854964
|
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
|
NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln)
|
rs372047427
|
|
|
NM_007294.4(BRCA1):c.67_75del (p.Glu23_Pro25del)
|
rs1555600865
|
|
|
NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr)
|
rs191872612
|
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
|
NM_007294.4(BRCA1):c.697_698del (p.Val233fs)
|
rs80357747
|
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
|
NM_007294.4(BRCA1):c.714TCA[1] (p.His239del)
|
rs786202378
|
|
|
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)
|
rs80357198
|
|
|
NM_007294.4(BRCA1):c.722C>T (p.Pro241Leu)
|
rs80357351
|
|
|
NM_007294.4(BRCA1):c.731_732delinsCA (p.Asn244Thr)
|
rs1064794375
|
|
|
NM_007294.4(BRCA1):c.736T>C (p.Leu246=)
|
rs28897675
|
|
|
NM_007294.4(BRCA1):c.742A>G (p.Thr248Ala)
|
rs879255288
|
|
|
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser)
|
rs397507256
|
|
|
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys)
|
rs273902786
|
|
|
NM_007294.4(BRCA1):c.754del (p.Arg252fs)
|
rs1555593195
|
|
|
NM_007294.4(BRCA1):c.756T>C (p.Arg252=)
|
rs786201338
|
|
|
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg)
|
rs80357225
|
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
|
NM_007294.4(BRCA1):c.80+1G>A
|
rs80358010
|
|
|
NM_007294.4(BRCA1):c.81-12dup
|
rs273902789
|
|
|
NM_007294.4(BRCA1):c.81-13C>A
|
rs56328013
|
|
|
NM_007294.4(BRCA1):c.81-13C>T
|
rs56328013
|
|
|
NM_007294.4(BRCA1):c.81-15C>A
|
rs1555599314
|
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
|
NM_007294.4(BRCA1):c.81-20C>T
|
rs80358039
|
|
|
NM_007294.4(BRCA1):c.81-2del
|
rs273902791
|
|
|
NM_007294.4(BRCA1):c.81-5G>A
|
rs1555599296
|
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
|
NM_007294.4(BRCA1):c.819A>G (p.Pro273=)
|
rs779225364
|
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
|
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
|
rs80357266
|
|
|
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)
|
rs80357728
|
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
|
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)
|
rs397509330
|
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
|
NM_007294.4(BRCA1):c.854A>G (p.His285Arg)
|
rs2154489161
|
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
|
NM_007294.4(BRCA1):c.882del (p.Asp295fs)
|
rs80357587
|
|
|
NM_007294.4(BRCA1):c.889A>G (p.Met297Val)
|
rs80357196
|
|
|
NM_007294.4(BRCA1):c.913T>C (p.Cys305Arg)
|
rs1597879229
|
|
|
NM_007294.4(BRCA1):c.914G>A (p.Cys305Tyr)
|
rs751124745
|
|
|
NM_007294.4(BRCA1):c.923del (p.Ser308fs)
|
rs80357953
|
|
|
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter)
|
rs397509338
|
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
|
NM_007294.4(BRCA1):c.933del (p.Gly312fs)
|
rs1135401839
|
|
|
NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs)
|
rs1555592766
|
|
|
NM_007294.4(BRCA1):c.945G>A (p.Arg315=)
|
rs1555592789
|
|
|
NM_007294.4(BRCA1):c.951A>G (p.Gln317=)
|
rs759419385
|
|
|
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)
|
rs886040335
|
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
|
|
NM_007294.4(BRCA1):c.969A>T (p.Gly323=)
|
rs45586033
|
|
|
NM_007294.4(BRCA1):c.971G>A (p.Ser324Asn)
|
rs1462728426
|
|
|
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)
|
rs80357066
|
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
|
NM_007294.4(BRCA1):c.990T>C (p.Asp330=)
|
rs978690648
|
|
|
NM_007325.5(GRIA3):c.2126C>T (p.Ala709Val)
|
|
|
|
NM_007325.5(GRIA3):c.2476G>A (p.Gly826Ser)
|
|
|
|
NM_007325.5(GRIA3):c.425G>A (p.Arg142His)
|
|
|
|
NM_007325.5(GRIA3):c.538G>A (p.Ala180Thr)
|
|
|
|
NM_007327.4(GRIN1):c.1036C>T (p.Arg346Trp)
|
rs1833355927
|
|
|
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
|
rs797045047
|
|
|
NM_007327.4(GRIN1):c.2054A>G (p.Lys685Arg)
|
|
|
|
NM_007327.4(GRIN1):c.334G>A (p.Gly112Ser)
|
rs762157647
|
|
|
NM_007327.4(GRIN1):c.555G>A (p.Glu185=)
|
|
|
|
NM_007327.4(GRIN1):c.570+16G>A
|
rs201978748
|
|
|
NM_007347.5(AP4E1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_007363.5(NONO):c.1131+5A>G
|
|
|
|
NM_007363.5(NONO):c.116C>T (p.Pro39Leu)
|
|
|
|
NM_007363.5(NONO):c.1176T>G (p.Ala392=)
|
|
|
|
NM_007363.5(NONO):c.1408C>T (p.Arg470Ter)
|
|
|
|
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
|
|
|
|
NM_007363.5(NONO):c.322_348+280del
|
rs2148033540
|
|
|
NM_007373.4(SHOC2):c.*16C>G
|
rs753327392
|
|
|
NM_007373.4(SHOC2):c.1335A>G (p.Gly445=)
|
|
|
|
NM_007373.4(SHOC2):c.1481C>A (p.Thr494Asn)
|
rs758241851
|
|
|
NM_007373.4(SHOC2):c.1541-7del
|
rs371544139
|
|
|
NM_007373.4(SHOC2):c.1541-7dup
|
rs371544139
|
|
|
NM_007373.4(SHOC2):c.187G>C (p.Gly63Arg)
|
rs1564714645
|
|
|
NM_007373.4(SHOC2):c.284_351dup (p.Ser118fs)
|
rs1847638431
|
|
|
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
|
|
|
|
NM_007373.4(SHOC2):c.309G>A (p.Met103Ile)
|
rs1479169790
|
|
|
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr)
|
rs1381863749
|
|
|
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly)
|
rs768053004
|
|
|
NM_007373.4(SHOC2):c.517A>G (p.Met173Val)
|
rs1057518206
|
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
|
NM_007373.4(SHOC2):c.556T>G (p.Ser186Ala)
|
rs1000163945
|
|
|
NM_007373.4(SHOC2):c.567T>C (p.Tyr189=)
|
rs1847644303
|
|
|
NM_007373.4(SHOC2):c.605A>G (p.Asn202Ser)
|
|
|
|
NM_007373.4(SHOC2):c.704-19del
|
rs768697153
|
|
|
NM_007373.4(SHOC2):c.85A>G (p.Lys29Glu)
|
rs1414935471
|
|
|
NM_007373.4(SHOC2):c.911C>T (p.Ala304Val)
|
rs759211899
|
|
|
NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)
|
|
|
|
NM_007373.4(SHOC2):c.96A>T (p.Gly32=)
|
rs1847633735
|
|
|
NM_007373.4(SHOC2):c.973-5del
|
rs730881016
|
|
|
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
|
|
|
|
NM_012062.5(DNM1L):c.1582G>A (p.Val528Ile)
|
|
|
|
NM_012062.5(DNM1L):c.251-5dup
|
rs1188011409
|
|
|
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer)
|
rs1555229978
|
|
|
NM_012062.5(DNM1L):c.889A>T (p.Ile297Phe)
|
|
|
|
NM_012096.3(APPL1):c.863+19T>C
|
|
|
|
NM_012114.3(CASP14):c.361C>T (p.Arg121Ter)
|
|
|
|
NM_012114.3(CASP14):c.397C>T (p.Arg133Ter)
|
|
|
|
NM_012114.3(CASP14):c.462_463del (p.Asp154fs)
|
rs769277893
|
|
|
NM_012123.4(MTO1):c.1260+309del
|
rs988279203
|
|
|
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
|
|
|
|
NM_012154.5(AGO2):c.1371C>T (p.Ala457=)
|
|
|
|
NM_012154.5(AGO2):c.1742A>G (p.Gln581Arg)
|
|
|
|
NM_012156.2(EPB41L1):c.1318G>C (p.Ala440Pro)
|
|
|
|
NM_012156.2(EPB41L1):c.1684G>A (p.Glu562Lys)
|
|
|
|
NM_012156.2(EPB41L1):c.665C>T (p.Ala222Val)
|
|
|
|
NM_012186.3(FOXE3):c.-2C>G
|
|
|
|
NM_012186.3(FOXE3):c.380A>G (p.Asp127Gly)
|
|
|
|
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
|
|
|
|
NM_012186.3(FOXE3):c.582G>A (p.Ala194=)
|
|
|
|
NM_012199.5(AGO1):c.614G>T (p.Arg205Leu)
|
|
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
|
NM_012203.2(GRHPR):c.206_214+11del
|
|
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
|
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
|
|
|
|
NM_012203.2(GRHPR):c.84-2A>G
|
rs180177319
|
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
|
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
|
|
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
|
NM_012210.4(TRIM32):c.463C>T (p.Arg155Cys)
|
rs374055553
|
|
|
NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)
|
|
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
|
NM_012216.4(MID2):c.1435+1G>A
|
|
|
|
NM_012216.4(MID2):c.1756A>G (p.Ile586Val)
|
|
|
|
NM_012216.4(MID2):c.2190G>A (p.Gly730=)
|
|
|
|
NM_012216.4(MID2):c.397T>A (p.Ser133Thr)
|
rs2147825821
|
|
|
NM_012216.4(MID2):c.402C>G (p.Ser134Arg)
|
rs761567068
|
|
|
NM_012232.6(CAVIN1):c.141_148del (p.Asp47fs)
|
|
|
|
NM_012233.3(RAB3GAP1):c.18+1G>C
|
|
|
|
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)
|
rs398122524
|
|
|
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)
|
rs1332257684
|
|
|
NM_012280.4(FTSJ1):c.655G>A (p.Asp219Asn)
|
|
|
|
NM_012281.3(KCND2):c.468C>G (p.Thr156=)
|
rs149119940
|
|
|
NM_012309.5(SHANK2):c.1742del (p.Glu581fs)
|
|
|
|
NM_012309.5(SHANK2):c.1745A>C (p.Glu582Ala)
|
|
|
|
NM_012309.5(SHANK2):c.3707G>T (p.Gly1236Val)
|
|
|
|
NM_012309.5(SHANK2):c.4337C>T (p.Pro1446Leu)
|
|
|
|
NM_012310.5(KIF4A):c.1327T>A (p.Cys443Ser)
|
|
|
|
NM_012310.5(KIF4A):c.2841G>A (p.Gln947=)
|
|
|
|
NM_012310.5(KIF4A):c.2899-7G>T
|
|
|
|
NM_012310.5(KIF4A):c.578A>T (p.Gln193Leu)
|
|
|
|
NM_012318.3(LETM1):c.1743+4G>A
|
|
|
|
NM_012318.3(LETM1):c.920G>A (p.Arg307His)
|
|
|
|
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)
|
rs1383727273
|
|
|
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr)
|
|
|
|
NM_012330.4(KAT6B):c.2735A>G (p.Glu912Gly)
|
|
|
|
NM_012330.4(KAT6B):c.3173G>A (p.Arg1058Gln)
|
|
|
|
NM_012330.4(KAT6B):c.3730T>G (p.Cys1244Gly)
|
|
|
|
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)
|
rs2132075785
|
|
|
NM_012330.4(KAT6B):c.622-4A>G
|
|
|
|
NM_012335.4(MYO1F):c.2338C>G (p.Arg780Gly)
|
rs201198914
|
|
|
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)
|
rs2140918991
|
|
|
NM_012388.4(BLOC1S6):c.480_486del (p.Arg160fs)
|
|
|
|
NM_012398.3(PIP5K1C):c.-1C>G
|
|
|
|
NM_012398.3(PIP5K1C):c.1603A>G (p.Ile535Val)
|
|
|
|
NM_012414.4(RAB3GAP2):c.2095C>T (p.Arg699Ter)
|
|
|
|
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
|
|
|
|
NM_012433.4(SF3B1):c.2587C>T (p.Gln863Ter)
|
rs2084930929
|
|
|
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.1454G>A (p.Trp485Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.316G>A (p.Glu106Lys)
|
|
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
|
NM_012434.5(SLC17A5):c.509T>C (p.Leu170Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.511G>A (p.Glu171Lys)
|
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
|
NM_012434.5(SLC17A5):c.952G>T (p.Glu318Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.[509T>C;511G>A]
|
|
|
|
NM_012448.4(STAT5B):c.2178G>A (p.Met726Ile)
|
rs768971207
|
|
|
NM_012448.4(STAT5B):c.681+4A>G
|
|
|
|
NM_012448.4(STAT5B):c.802C>T (p.Pro268Ser)
|
|
|
|
NM_012448.4(STAT5B):c.834-18C>T
|
|
|
|
NM_012452.3(TNFRSF13B):c.*86_*88del
|
rs150068036
|
|
|
NM_012452.3(TNFRSF13B):c.61+11G>C
|
rs201483236
|
|
|
NM_012452.3(TNFRSF13B):c.632-2A>G
|
|
|
|
NM_012463.4(ATP6V0A2):c.2056-2dup
|
|
|
|
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs)
|
|
|
|
NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile)
|
|
|
|
NM_012470.4(TNPO3):c.140C>G (p.Ser47Ter)
|
|
|
|
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)
|
|
|
|
NM_012470.4(TNPO3):c.2516A>C (p.His839Pro)
|
|
|
|
NM_012470.4(TNPO3):c.321+1G>T
|
|
|
|
NM_012473.4(TXN2):c.388-1G>A
|
|
|
|
NM_012479.4(YWHAG):c.88-1G>A
|
|
|
|
NM_013245.3(VPS4A):c.769+3G>A
|
|
|
|
NM_013246.3(CLCF1):c.660_666del (p.Gly221fs)
|
rs140997186
|
|
|
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
|
rs757203783
|
|
|
NM_013266.4(CTNNA3):c.660A>G (p.Ser220=)
|
|
|
|
NM_013275.6(ANKRD11):c.1000C>T (p.Pro334Ser)
|
|
|
|
NM_013275.6(ANKRD11):c.1415G>A (p.Arg472Gln)
|
|
|
|
NM_013275.6(ANKRD11):c.1470G>T (p.Glu490Asp)
|
|
|
|
NM_013275.6(ANKRD11):c.2639C>T (p.Thr880Met)
|
|
|
|
NM_013275.6(ANKRD11):c.4164C>G (p.Asp1388Glu)
|
|
|
|
NM_013275.6(ANKRD11):c.5646C>G (p.Val1882=)
|
|
|
|
NM_013275.6(ANKRD11):c.6403C>A (p.Pro2135Thr)
|
|
|
|
NM_013275.6(ANKRD11):c.6474A>T (p.Glu2158Asp)
|
rs1453564938
|
|
|
NM_013275.6(ANKRD11):c.6647C>T (p.Ala2216Val)
|
rs2151734743
|
|
|
NM_013275.6(ANKRD11):c.6800C>T (p.Ser2267Phe)
|
|
|
|
NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs)
|
rs2151660554
|
|
|
NM_013291.3(CPSF1):c.3893G>A (p.Arg1298His)
|
|
|
|
NM_013328.4(PYCR2):c.577G>A (p.Val193Met)
|
|
|
|
NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs)
|
rs886043378
|
|
|
NM_013335.4(GMPPA):c.1001C>T (p.Thr334Met)
|
|
|
|
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
|
rs36029384
|
|
|
NM_013339.4(ALG6):c.908_910del (p.Cys303del)
|
rs1057517952
|
|
|
NM_013382.7(POMT2):c.1465_1476del (p.Gly489_Leu492del)
|
|
|
|
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
|
|
|
|
NM_013382.7(POMT2):c.2147+1del
|
|
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
|
NM_013382.7(POMT2):c.2201del (p.Asp734fs)
|
rs2140156993
|
|
|
NM_013382.7(POMT2):c.406T>C (p.Tyr136His)
|
rs1891230114
|
|
|
NM_013382.7(POMT2):c.558C>G (p.Cys186Trp)
|
rs2139487152
|
|
|
NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)
|
|
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
|
NM_013386.5(SLC25A24):c.715C>T (p.Arg239Ter)
|
|
|
|
NM_013975.4(LIG3):c.1073T>C (p.Phe358Ser)
|
|
|
|
NM_013975.4(LIG3):c.1166A>G (p.Lys389Arg)
|
|
|
|
NM_013975.4(LIG3):c.123A>G (p.Thr41=)
|
|
|
|
NM_013975.4(LIG3):c.1690A>C (p.Ile564Leu)
|
rs1555556264
|
|
|
NM_013975.4(LIG3):c.1824-13C>T
|
|
|
|
NM_013975.4(LIG3):c.1857C>T (p.Asp619=)
|
|
|
|
NM_013975.4(LIG3):c.1859A>G (p.Asn620Ser)
|
|
|
|
NM_013975.4(LIG3):c.1990-17_1990-14del
|
rs147265750
|
|
|
NM_013975.4(LIG3):c.2133C>T (p.Phe711=)
|
|
|
|
NM_013975.4(LIG3):c.2200G>C (p.Asp734His)
|
rs1567693216
|
|
|
NM_013975.4(LIG3):c.2332-19G>C
|
|
|
|
NM_013975.4(LIG3):c.2712G>C (p.Val904=)
|
rs372207276
|
|
|
NM_013975.4(LIG3):c.2727C>G (p.Ala909=)
|
|
|
|
NM_013975.4(LIG3):c.2860C>A (p.Arg954Ser)
|
|
|
|
NM_013975.4(LIG3):c.2931C>T (p.His977=)
|
|
|
|
NM_013975.4(LIG3):c.3023C>T (p.Pro1008Leu)
|
rs1319167353
|
|
|
NM_013975.4(LIG3):c.382T>G (p.Ser128Ala)
|
rs1021764612
|
|
|
NM_013975.4(LIG3):c.744T>A (p.Ser248Arg)
|
|
|
|
NM_013975.4(LIG3):c.74G>A (p.Arg25Gln)
|
|
|
|
NM_014000.3(VCL):c.120C>A (p.Leu40=)
|
|
|
|
NM_014000.3(VCL):c.120C>T (p.Leu40=)
|
rs144080529
|
|
|
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter)
|
rs202005455
|
|
|
NM_014000.3(VCL):c.151G>T (p.Val51Phe)
|
rs1565628951
|
|
|
NM_014000.3(VCL):c.2185G>A (p.Ala729Thr)
|
rs957518574
|
|
|
NM_014000.3(VCL):c.2362G>C (p.Asp788His)
|
|
|
|
NM_014000.3(VCL):c.2455G>A (p.Asp819Asn)
|
|
|
|
NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser)
|
rs1060502196
|
|
|
NM_014000.3(VCL):c.2827C>A (p.Pro943Thr)
|
rs71579375
|
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
|
NM_014000.3(VCL):c.622+4C>T
|
rs201020802
|
|
|
NM_014008.5(CCDC22):c.127C>T (p.Arg43Cys)
|
|
|
|
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
|
rs2066044949
|
|
|
NM_014009.4(FOXP3):c.1163A>G (p.Asn388Ser)
|
rs2147944149
|
|
|
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)
|
rs1557115532
|
|
|
NM_014026.6(DCPS):c.574G>C (p.Glu192Gln)
|
rs139170738
|
|
|
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
|
|
|
|
NM_014028.4(OSTM1):c.255_256delinsC (p.Glu86fs)
|
|
|
|
NM_014028.4(OSTM1):c.524T>C (p.Leu175Ser)
|
rs2114596894
|
|
|
NM_014043.4(CHMP2B):c.2T>C (p.Met1Thr)
|
|
|
|
NM_014049.5(ACAD9):c.1029+1dup
|
rs2107657797
|
|
|
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)
|
rs368949613
|
|
|
NM_014049.5(ACAD9):c.1504GAG[1] (p.Glu503del)
|
rs765384159
|
|
|
NM_014049.5(ACAD9):c.151-1_151del
|
rs766026673
|
|
|
NM_014049.5(ACAD9):c.1674_1692+34del
|
rs2107664575
|
|
|
NM_014049.5(ACAD9):c.1750T>C (p.Ser584Pro)
|
rs2107666715
|
|
|
NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe)
|
|
|
|
NM_014049.5(ACAD9):c.359del (p.Phe120fs)
|
rs863224844
|
|
|
NM_014049.5(ACAD9):c.634-1G>A
|
|
|
|
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)
|
rs115532916
|
|
|
NM_014055.4(IFT81):c.1066G>T (p.Glu356Ter)
|
|
|
|
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly)
|
rs986339998
|
|
|
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
|
|
|
|
NM_014141.6(CNTNAP2):c.1723del (p.Ser575fs)
|
rs2116638179
|
|
|
NM_014141.6(CNTNAP2):c.2255+3G>A
|
rs1366034966
|
|
|
NM_014141.6(CNTNAP2):c.2279C>T (p.Ser760Leu)
|
rs1585058146
|
|
|
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)
|
rs138517537
|
|
|
NM_014141.6(CNTNAP2):c.3956_3957del (p.Thr1319fs)
|
rs1554432792
|
|
|
NM_014159.7(SETD2):c.5500G>A (p.Val1834Ile)
|
|
|
|
NM_014159.7(SETD2):c.6020A>G (p.Asp2007Gly)
|
rs2107637525
|
|
|
NM_014159.7(SETD2):c.6095A>G (p.Glu2032Gly)
|
|
|
|
NM_014159.7(SETD2):c.6793G>A (p.Val2265Ile)
|
rs2040110568
|
|
|
NM_014159.7(SETD2):c.7073C>A (p.Pro2358Gln)
|
|
|
|
NM_014168.4(METTL5):c.541+1G>C
|
rs1467526653
|
|
|
NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)
|
|
|
|
NM_014208.3(DSPP):c.2961C>G (p.Asp987Glu)
|
|
|
|
NM_014208.3(DSPP):c.3214A>T (p.Ser1072Cys)
|
|
|
|
NM_014208.3(DSPP):c.3827G>A (p.Gly1276Asp)
|
|
|
|
NM_014225.6(PPP2R1A):c.-4del
|
|
|
|
NM_014225.6(PPP2R1A):c.1547T>C (p.Ile516Thr)
|
|
|
|
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
|
rs2089686081
|
|
|
NM_014225.6(PPP2R1A):c.687G>C (p.Val229=)
|
|
|
|
NM_014225.6(PPP2R1A):c.78+76_78+77del
|
|
|
|
NM_014233.4(UBTF):c.1925G>A (p.Arg642His)
|
|
|
|
NM_014236.4(GNPAT):c.1583_1586del (p.Leu528fs)
|
rs2102825068
|
|
|
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs)
|
rs113994014
|
|
|
NM_014239.4(EIF2B2):c.829C>T (p.Gln277Ter)
|
|
|
|
NM_014239.4(EIF2B2):c.871C>T (p.Pro291Ser)
|
|
|
|
NM_014244.5(ADAMTS2):c.102_126dup (p.Ala43fs)
|
|
|
|
NM_014244.5(ADAMTS2):c.103G>A (p.Ala35Thr)
|
rs2127463859
|
|
|
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)
|
rs1174228917
|
|
|
NM_014244.5(ADAMTS2):c.128C>G (p.Ala43Gly)
|
rs1377346029
|
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
|
NM_014244.5(ADAMTS2):c.2422del (p.Thr808fs)
|
rs2113200020
|
|
|
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu)
|
rs150989902
|
|
|
NM_014244.5(ADAMTS2):c.3586C>T (p.Gln1196Ter)
|
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=)
|
rs1386741882
|
|
|
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)
|
rs763392299
|
|
|
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His)
|
rs11750821
|
|
|
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)
|
rs1064794627
|
|
|
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup)
|
rs775509290
|
|
|
NM_014248.4(RBX1):c.228+1G>T
|
|
|
|
NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)
|
|
|
|
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)
|
rs1794540164
|
|
|
NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)
|
rs1793999476
|
|
|
NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)
|
|
|
|
NM_014251.3(SLC25A13):c.1359G>T (p.Lys453Asn)
|
|
|
|
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)
|
rs554809009
|
|
|
NM_014251.3(SLC25A13):c.1465T>C (p.Cys489Arg)
|
|
|
|
NM_014251.3(SLC25A13):c.1511A>G (p.Tyr504Cys)
|
|
|
|
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)
|
|
|
|
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)
|
rs548769905
|
|
|
NM_014251.3(SLC25A13):c.1904A>G (p.Asp635Gly)
|
rs1466662887
|
|
|
NM_014251.3(SLC25A13):c.1A>T (p.Met1Leu)
|
|
|
|
NM_014251.3(SLC25A13):c.535A>G (p.Thr179Ala)
|
rs768500587
|
|
|
NM_014251.3(SLC25A13):c.674C>T (p.Ser225Leu)
|
|
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
|
NM_014252.4(SLC25A15):c.623-6C>T
|
rs1270950524
|
|
|
NM_014252.4(SLC25A15):c.818T>A (p.Met273Lys)
|
rs202247808
|
|
|
NM_014252.4(SLC25A15):c.862dup (p.Glu288fs)
|
|
|
|
NM_014268.4(MAPRE2):c.169_176del (p.Thr57fs)
|
rs1568991852
|
|
|
NM_014271.4(IL1RAPL1):c.261G>C (p.Glu87Asp)
|
|
|
|
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)
|
rs761827730
|
|
|
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter)
|
rs863223955
|
|
|
NM_014297.5(ETHE1):c.394A>G (p.Ser132Gly)
|
rs1291692198
|
|
|
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala)
|
rs1284200516
|
|
|
NM_014297.5(ETHE1):c.596-2A>G
|
rs863223954
|
|
|
NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)
|
|
|
|
NM_014297.5(ETHE1):c.760G>A (p.Ala254Thr)
|
|
|
|
NM_014305.4(TGDS):c.313+1G>A
|
|
|
|
NM_014314.4(RIGI):c.1936T>A (p.Trp646Arg)
|
rs2118720949
|
|
|
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)
|
|
|
|
NM_014336.5(AIPL1):c.1005del (p.Ala336fs)
|
rs1356057652
|
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
|
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)
|
rs1208703297
|
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
|
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs)
|
rs2137577962
|
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
|
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)
|
rs773588375
|
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
|
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
|
rs2137561134
|
|
|
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs)
|
rs1057516406
|
|
|
NM_014363.6(SACS):c.13601del (p.Ser4533_Leu4534insTer)
|
|
|
|
NM_014363.6(SACS):c.1639C>G (p.Pro547Ala)
|
rs2137720410
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
|
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
|
|
|
|
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
|
|
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
|
NM_014363.6(SACS):c.520G>T (p.Glu174Ter)
|
rs2137742889
|
|
|
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
|
|
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
|
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)
|
rs137853017
|
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
|
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
|
|
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
|
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
|
|
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
|
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter)
|
rs2137582138
|
|
|
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)
|
rs751568153
|
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
|
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly)
|
rs397517249
|
|
|
NM_014391.3(ANKRD1):c.345+17del
|
rs746808032
|
|
|
NM_014391.3(ANKRD1):c.345+17dup
|
rs746808032
|
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
|
NM_014391.3(ANKRD1):c.346-19_346-14del
|
rs58762441
|
|
|
NM_014391.3(ANKRD1):c.346-19_346-15delinsA
|
|
|
|
NM_014391.3(ANKRD1):c.346-19_346-15delinsATA
|
|
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
|
NM_014391.3(ANKRD1):c.346-31_346-12del
|
rs750974250
|
|
|
NM_014391.3(ANKRD1):c.346-43AT[11]
|
rs60406118
|
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
|
NM_014391.3(ANKRD1):c.346-43AT[15]
|
rs60406118
|
|
|
NM_014391.3(ANKRD1):c.652-13del
|
rs3839929
|
|
|
NM_014413.4(EIF2AK1):c.631G>C (p.Val211Leu)
|
|
|
|
NM_014415.4(ZBTB11):c.718C>T (p.Arg240Ter)
|
|
|
|
NM_014415.4(ZBTB11):c.85_97del (p.Val29fs)
|
|
|
|
NM_014423.4(AFF4):c.1133+3A>G
|
rs1760573869
|
|
|
NM_014423.4(AFF4):c.437G>C (p.Ser146Thr)
|
|
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
|
NM_014467.3(SRPX2):c.355+1G>C
|
|
|
|
NM_014491.4(FOXP2):c.1701T>C (p.Asn567=)
|
|
|
|
NM_014491.4(FOXP2):c.2066T>C (p.Leu689Ser)
|
|
|
|
NM_014515.7(CNOT2):c.-9C>T
|
rs2135804415
|
|
|
NM_014625.4(NPHS2):c.104dup (p.Arg36fs)
|
rs1320543506
|
|
|
NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter)
|
rs776016821
|
|
|
NM_014625.4(NPHS2):c.29G>C (p.Arg10Thr)
|
|
|
|
NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp)
|
rs139290621
|
|
|
NM_014625.4(NPHS2):c.419del (p.Gly140fs)
|
rs749779208
|
|
|
NM_014625.4(NPHS2):c.452del
|
rs1250670041
|
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
|
NM_014625.4(NPHS2):c.561G>A (p.Met187Ile)
|
rs1673966819
|
|
|
NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser)
|
rs748812981
|
|
|
NM_014625.4(NPHS2):c.802G>A (p.Val268Met)
|
|
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
|
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)
|
rs1673254835
|
|
|
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)
|
rs763818901
|
|
|
NM_014629.4(ARHGEF10):c.1090C>G (p.Leu364Val)
|
|
|
|
NM_014629.4(ARHGEF10):c.3648C>G (p.Asp1216Glu)
|
|
|
|
NM_014629.4(ARHGEF10):c.3694C>G (p.Leu1232Val)
|
rs200895319
|
|
|
NM_014639.4(SKIC3):c.1134+1G>T
|
rs2112344385
|
|
|
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
|
|
|
|
NM_014639.4(SKIC3):c.1325+4A>C
|
|
|
|
NM_014639.4(SKIC3):c.2114+2T>A
|
|
|
|
NM_014639.4(SKIC3):c.2114+5G>A
|
|
|
|
NM_014639.4(SKIC3):c.236G>T (p.Gly79Val)
|
|
|
|
NM_014639.4(SKIC3):c.2403T>G (p.Asn801Lys)
|
rs771747292
|
|
|
NM_014639.4(SKIC3):c.3521G>A (p.Arg1174His)
|
rs149287861
|
|
|
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
|
|
|
|
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs)
|
rs2112260281
|
|
|
NM_014639.4(SKIC3):c.3847G>A (p.Asp1283Asn)
|
|
|
|
NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)
|
|
|
|
NM_014697.3(NOS1AP):c.1350C>T (p.Gly450=)
|
|
|
|
NM_014697.3(NOS1AP):c.40C>A (p.His14Asn)
|
rs1553253970
|
|
|
NM_014697.3(NOS1AP):c.453+18G>A
|
|
|
|
NM_014697.3(NOS1AP):c.454-6T>A
|
rs1335793126
|
|
|
NM_014697.3(NOS1AP):c.596-5T>G
|
|
|
|
NM_014697.3(NOS1AP):c.762+8A>G
|
rs1557890834
|
|
|
NM_014697.3(NOS1AP):c.92G>A (p.Cys31Tyr)
|
rs1691632353
|
|
|
NM_014698.3(TMEM63A):c.133dup (p.Val45fs)
|
|
|
|
NM_014698.3(TMEM63A):c.1973A>G (p.Lys658Arg)
|
|
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
|
NM_014704.4(CEP104):c.1083G>A (p.Pro361=)
|
rs61740614
|
|
|
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
|
|
|
|
NM_014704.4(CEP104):c.1485+1G>A
|
|
|
|
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
|
|
|
|
NM_014704.4(CEP104):c.182del (p.Leu61fs)
|
|
|
|
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)
|
rs1189678912
|
|
|
NM_014704.4(CEP104):c.1954G>A (p.Asp652Asn)
|
|
|
|
NM_014704.4(CEP104):c.2179A>G (p.Lys727Glu)
|
|
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
|
|
|
NM_014704.4(CEP104):c.2765A>T (p.Tyr922Phe)
|
rs2124628629
|
|
|
NM_014704.4(CEP104):c.735+6G>T
|
|
|
|
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
|
|
|
|
NM_014712.3(SETD1A):c.1145A>G (p.Tyr382Cys)
|
|
|
|
NM_014712.3(SETD1A):c.151-2A>G
|
|
|
|
NM_014712.3(SETD1A):c.1769G>A (p.Arg590Gln)
|
|
|
|
NM_014712.3(SETD1A):c.2011G>A (p.Ala671Thr)
|
|
|
|
NM_014712.3(SETD1A):c.2440A>G (p.Met814Val)
|
|
|
|
NM_014712.3(SETD1A):c.2493G>A (p.Glu831=)
|
|
|
|
NM_014712.3(SETD1A):c.2614A>T (p.Thr872Ser)
|
|
|
|
NM_014712.3(SETD1A):c.2964_2966del (p.Glu988del)
|
|
|
|
NM_014712.3(SETD1A):c.458A>G (p.Lys153Arg)
|
|
|
|
NM_014712.3(SETD1A):c.4693-13T>C
|
|
|
|
NM_014712.3(SETD1A):c.716A>T (p.Asn239Ile)
|
|
|
|
NM_014714.4(IFT140):c.1155+1G>A
|
|
|
|
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
|
|
|
|
NM_014714.4(IFT140):c.1770+6G>C
|
|
|
|
NM_014714.4(IFT140):c.2102A>T (p.Glu701Val)
|
rs2141512703
|
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
|
NM_014714.4(IFT140):c.248G>A (p.Gly83Glu)
|
rs2142041731
|
|
|
NM_014714.4(IFT140):c.2577+25G>A
|
rs1423102192
|
|
|
NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
|
NM_014714.4(IFT140):c.4182G>A (p.Thr1394=)
|
|
|
|
NM_014714.4(IFT140):c.571T>G (p.Ser191Ala)
|
rs2141912232
|
|
|
NM_014727.3(KMT2B):c.1085A>G (p.Asp362Gly)
|
|
|
|
NM_014727.3(KMT2B):c.1090G>A (p.Glu364Lys)
|
|
|
|
NM_014727.3(KMT2B):c.1823C>T (p.Thr608Ile)
|
|
|
|
NM_014727.3(KMT2B):c.3323C>T (p.Pro1108Leu)
|
rs754957565
|
|
|
NM_014727.3(KMT2B):c.4498-11C>A
|
|
|
|
NM_014727.3(KMT2B):c.5485C>G (p.Pro1829Ala)
|
|
|
|
NM_014727.3(KMT2B):c.6248C>T (p.Thr2083Met)
|
|
|
|
NM_014727.3(KMT2B):c.641C>T (p.Ser214Phe)
|
|
|
|
NM_014727.3(KMT2B):c.958T>A (p.Ser320Thr)
|
|
|
|
NM_014762.4(DHCR24):c.55_56insCGCC (p.Arg19fs)
|
|
|
|
NM_014780.5(CUL7):c.2197C>T (p.His733Tyr)
|
rs979055833
|
|
|
NM_014780.5(CUL7):c.2398-2A>G
|
|
|
|
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser)
|
rs147452416
|
|
|
NM_014780.5(CUL7):c.2744C>A (p.Ser915Tyr)
|
rs1157781142
|
|
|
NM_014780.5(CUL7):c.3645+1G>A
|
|
|
|
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs)
|
|
|
|
NM_014780.5(CUL7):c.4355G>A (p.Gly1452Asp)
|
|
|
|
NM_014780.5(CUL7):c.5029C>T (p.Gln1677Ter)
|
|
|
|
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del)
|
rs1340929933
|
|
|
NM_014780.5(CUL7):c.777T>A (p.His259Gln)
|
rs752414982
|
|
|
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
|
rs786204815
|
|
|
NM_014795.4(ZEB2):c.1297C>G (p.Gln433Glu)
|
|
|
|
NM_014795.4(ZEB2):c.808-12C>T
|
|
|
|
NM_014804.3(KIAA0753):c.1481del (p.Lys494fs)
|
rs766831438
|
|
|
NM_014822.4(SEC24D):c.1753C>A (p.Pro585Thr)
|
rs750011350
|
|
|
NM_014822.4(SEC24D):c.1937C>T (p.Ser646Leu)
|
|
|
|
NM_014844.4(TECPR2):c.222delG
|
rs1567327482
|
|
|
NM_014844.5(TECPR2):c.220-4C>A
|
rs199851151
|
|
|
NM_014846.4(WASHC5):c.1695A>G (p.Thr565=)
|
rs2130097605
|
|
|
NM_014846.4(WASHC5):c.1889T>C (p.Ile630Thr)
|
|
|
|
NM_014846.4(WASHC5):c.2780A>G (p.Asn927Ser)
|
|
|
|
NM_014846.4(WASHC5):c.3182-16A>G
|
|
|
|
NM_014846.4(WASHC5):c.3262dup (p.His1088fs)
|
rs2129963735
|
|
|
NM_014855.3(AP5Z1):c.1339A>G (p.Thr447Ala)
|
|
|
|
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp)
|
rs113184057
|
|
|
NM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val)
|
|
|
|
NM_014865.4(NCAPD2):c.2508del (p.Phe837fs)
|
rs772347389
|
|
|
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
|
rs879254011
|
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
|
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)
|
rs1162977959
|
|
|
NM_014875.3(KIF14):c.1115A>G (p.Glu372Gly)
|
rs766030658
|
|
|
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile)
|
rs1256629719
|
|
|
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
|
|
|
|
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
|
|
|
|
NM_014875.3(KIF14):c.2354_2355del (p.Lys785fs)
|
|
|
|
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
|
|
|
|
NM_014875.3(KIF14):c.4506_4515delinsTTTAACCA (p.Glu1502fs)
|
rs2102550579
|
|
|
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
|
|
|
|
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg)
|
rs574562542
|
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
|
NM_014908.4(DOLK):c.966G>C (p.Arg322=)
|
|
|
|
NM_014915.3(ANKRD26):c.-119C>G
|
rs1554800065
|
|
|
NM_014915.3(ANKRD26):c.-127A>T
|
rs1589393799
|
|
|
NM_014915.3(ANKRD26):c.875-19_896dup
|
|
|
|
NM_014921.5(ADGRL1):c.2270_2271del (p.Val757fs)
|
|
|
|
NM_014921.5(ADGRL1):c.3712C>A (p.Pro1238Thr)
|
|
|
|
NM_014927.5(CNKSR2):c.1003A>G (p.Ser335Gly)
|
rs2091841106
|
|
|
NM_014946.4(SPAST):c.1076TTC[1] (p.Leu360del)
|
|
|
|
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)
|
rs1553316799
|
|
|
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly)
|
rs2148753923
|
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
|
NM_014946.4(SPAST):c.1414-2A>G
|
|
|
|
NM_014946.4(SPAST):c.1462_1463insTTA (p.Asn487_Arg488insIle)
|
|
|
|
NM_014946.4(SPAST):c.1537-11A>G
|
rs549538513
|
|
|
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)
|
rs778023258
|
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
|
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu)
|
rs763649847
|
|
|
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
|
|
|
|
NM_014975.3(MAST1):c.4594C>T (p.Leu1532Phe)
|
|
|
|
NM_014975.3(MAST1):c.692G>A (p.Cys231Tyr)
|
|
|
|
NM_014989.7(RIMS1):c.4681C>T (p.Arg1561Ter)
|
rs1168986146
|
|
|
NM_014991.6(WDFY3):c.410G>A (p.Gly137Asp)
|
|
|
|
NM_014991.6(WDFY3):c.4744G>T (p.Asp1582Tyr)
|
|
|
|
NM_014991.6(WDFY3):c.6576G>A (p.Gly2192=)
|
rs2149201651
|
|
|
NM_014991.6(WDFY3):c.6722A>C (p.Glu2241Ala)
|
|
|
|
NM_014991.6(WDFY3):c.7799G>A (p.Ser2600Asn)
|
rs1734049966
|
|
|
NM_015001.3(SPEN):c.9008C>A (p.Ser3003Ter)
|
|
|
|
NM_015015.3(KDM4B):c.1402C>T (p.Pro468Ser)
|
|
|
|
NM_015015.3(KDM4B):c.86A>G (p.Asn29Ser)
|
|
|
|
NM_015021.3(ZNF292):c.1424A>G (p.Asp475Gly)
|
|
|
|
NM_015021.3(ZNF292):c.2723C>T (p.Ser908Phe)
|
|
|
|
NM_015021.3(ZNF292):c.5520T>C (p.Ile1840=)
|
|
|
|
NM_015021.3(ZNF292):c.5630C>T (p.Thr1877Ile)
|
|
|
|
NM_015021.3(ZNF292):c.7003C>T (p.Arg2335Ter)
|
rs1168689294
|
|
|
NM_015021.3(ZNF292):c.722A>G (p.Asn241Ser)
|
|
|
|
NM_015021.3(ZNF292):c.7264A>G (p.Asn2422Asp)
|
|
|
|
NM_015021.3(ZNF292):c.7346A>T (p.Lys2449Ile)
|
|
|
|
NM_015021.3(ZNF292):c.7614T>A (p.Asn2538Lys)
|
|
|
|
NM_015021.3(ZNF292):c.7629_7633del (p.Lys2544fs)
|
|
|
|
NM_015028.4(TNIK):c.2215C>T (p.Gln739Ter)
|
|
|
|
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
|
|
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.5375-9G>A
|
|
|
|
NM_015046.7(SETX):c.6691G>T (p.Ala2231Ser)
|
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
|
NM_015047.3(EMC1):c.2964G>C (p.Leu988=)
|
|
|
|
NM_015076.5(CDK19):c.129-19T>C
|
|
|
|
NM_015100.4(POGZ):c.1028G>A (p.Ser343Asn)
|
|
|
|
NM_015100.4(POGZ):c.1909C>T (p.His637Tyr)
|
rs1654692123
|
|
|
NM_015100.4(POGZ):c.3895C>G (p.Gln1299Glu)
|
|
|
|
NM_015100.4(POGZ):c.39G>A (p.Glu13=)
|
|
|
|
NM_015100.4(POGZ):c.4135A>G (p.Ile1379Val)
|
|
|
|
NM_015100.4(POGZ):c.4148G>A (p.Ser1383Asn)
|
|
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
|
NM_015102.5(NPHP4):c.96G>T (p.Gln32His)
|
rs776102193
|
|
|
NM_015107.3(PHF8):c.-45_-44insGA
|
rs1347554525
|
|
|
NM_015107.3(PHF8):c.1879A>G (p.Lys627Glu)
|
|
|
|
NM_015107.3(PHF8):c.1987G>A (p.Asp663Asn)
|
|
|
|
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro)
|
rs34628045
|
|
|
NM_015141.4(GPD1L):c.215C>T (p.Pro72Leu)
|
rs1559573147
|
|
|
NM_015141.4(GPD1L):c.47+17T>C
|
|
|
|
NM_015141.4(GPD1L):c.629C>T (p.Ala210Val)
|
rs2125497783
|
|
|
NM_015158.5(KANK1):c.356C>G (p.Ser119Ter)
|
|
|
|
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
|
rs80358242
|
|
|
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys)
|
rs1378938503
|
|
|
NM_015166.4(MLC1):c.299_423+108del
|
rs1602049346
|
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
|
NM_015166.4(MLC1):c.806C>A (p.Ser269Tyr)
|
rs528700157
|
|
|
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)
|
rs1050220787
|
|
|
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup)
|
rs761096481
|
|
|
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe)
|
rs773164015
|
|
|
NM_015175.3(NBEAL2):c.3584G>A (p.Arg1195Gln)
|
|
|
|
NM_015175.3(NBEAL2):c.3649G>T (p.Gly1217Trp)
|
|
|
|
NM_015175.3(NBEAL2):c.4399C>T (p.Arg1467Trp)
|
|
|
|
NM_015175.3(NBEAL2):c.7208G>T (p.Gly2403Val)
|
|
|
|
NM_015175.3(NBEAL2):c.7329C>T (p.Ser2443=)
|
rs1426292577
|
|
|
NM_015175.3(NBEAL2):c.7779_7781dup (p.Leu2594_Gly2595insLeu)
|
|
|
|
NM_015178.3(RHOBTB2):c.1474G>C (p.Glu492Gln)
|
|
|
|
NM_015198.5(COBL):c.958-41_960del
|
rs1794112004
|
|
|
NM_015202.5(KATNIP):c.2180A>T (p.His727Leu)
|
|
|
|
NM_015202.5(KATNIP):c.26C>A (p.Ala9Asp)
|
rs150063976
|
|
|
NM_015202.5(KATNIP):c.3346+8G>T
|
|
|
|
NM_015202.5(KATNIP):c.3370A>G (p.Ile1124Val)
|
|
|
|
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)
|
rs145247651
|
|
|
NM_015205.3(ATP11A):c.673A>G (p.Lys225Glu)
|
|
|
|
NM_015214.3(DDHD2):c.1126-2A>G
|
rs2130822605
|
|
|
NM_015215.4(CAMTA1):c.2290C>T (p.His764Tyr)
|
|
|
|
NM_015215.4(CAMTA1):c.2614A>G (p.Met872Val)
|
|
|
|
NM_015215.4(CAMTA1):c.3658+13A>G
|
|
|
|
NM_015215.4(CAMTA1):c.4307C>T (p.Thr1436Ile)
|
|
|
|
NM_015215.4(CAMTA1):c.4982A>G (p.Tyr1661Cys)
|
|
|
|
NM_015261.3(NCAPD3):c.3867+5G>A
|
|
|
|
NM_015261.3(NCAPD3):c.4351G>A (p.Gly1451Arg)
|
|
|
|
NM_015267.4(CUX2):c.2377C>A (p.Arg793Ser)
|
|
|
|
NM_015267.4(CUX2):c.2566G>A (p.Gly856Ser)
|
|
|
|
NM_015267.4(CUX2):c.2569G>A (p.Ala857Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
|
NM_015272.5(RPGRIP1L):c.529+1688_609del
|
|
|
|
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
|
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
|
|
|
|
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
|
|
|
|
NM_015278.5(SASH1):c.1097C>A (p.Pro366His)
|
|
|
|
NM_015295.3(SMCHD1):c.230C>G (p.Thr77Arg)
|
|
|
|
NM_015295.3(SMCHD1):c.4664T>C (p.Ile1555Thr)
|
|
|
|
NM_015311.3(OBSL1):c.2416G>A (p.Val806Met)
|
|
|
|
NM_015311.3(OBSL1):c.2608C>T (p.Gln870Ter)
|
|
|
|
NM_015311.3(OBSL1):c.2680+8G>A
|
|
|
|
NM_015311.3(OBSL1):c.2692_2693delinsGGTGT (p.Trp898delinsGlyVal)
|
rs2106067916
|
|
|
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs)
|
rs759648512
|
|
|
NM_015311.3(OBSL1):c.2920G>A (p.Asp974Asn)
|
|
|
|
NM_015311.3(OBSL1):c.2953+495C>T
|
|
|
|
NM_015311.3(OBSL1):c.313C>G (p.Pro105Ala)
|
rs2106118353
|
|
|
NM_015311.3(OBSL1):c.319T>G (p.Ser107Ala)
|
rs2106118316
|
|
|
NM_015311.3(OBSL1):c.3351C>G (p.Asp1117Glu)
|
rs540064378
|
|
|
NM_015311.3(OBSL1):c.3451T>C (p.Tyr1151His)
|
|
|
|
NM_015311.3(OBSL1):c.3467G>A (p.Arg1156Gln)
|
|
|
|
NM_015311.3(OBSL1):c.3506_3509dup (p.Val1171fs)
|
|
|
|
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
|
|
|
|
NM_015311.3(OBSL1):c.3947A>G (p.Gln1316Arg)
|
|
|
|
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
|
|
|
|
NM_015311.3(OBSL1):c.4390C>T (p.Gln1464Ter)
|
rs1297285640
|
|
|
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs)
|
rs1434485676
|
|
|
NM_015311.3(OBSL1):c.4609+1G>A
|
rs371718828
|
|
|
NM_015311.3(OBSL1):c.4757del (p.His1586fs)
|
|
|
|
NM_015311.3(OBSL1):c.4783C>T (p.Arg1595Ter)
|
rs200174777
|
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
|
NM_015311.3(OBSL1):c.5388G>C (p.Gln1796His)
|
rs1298068212
|
|
|
NM_015311.3(OBSL1):c.5683+1G>C
|
|
|
|
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
|
|
|
|
NM_015330.6(SPECC1L):c.1149G>T (p.Gly383=)
|
|
|
|
NM_015335.5(MED13L):c.-9dup
|
rs2138617119
|
|
|
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp)
|
rs2137386497
|
|
|
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
|
|
|
|
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly)
|
|
|
|
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter)
|
rs1555243580
|
|
|
NM_015335.5(MED13L):c.4955+16A>T
|
|
|
|
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
|
rs1877279397
|
|
|
NM_015338.6(ASXL1):c.1751dup (p.Val585fs)
|
rs748946310
|
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
|
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer)
|
rs765327792
|
|
|
NM_015338.6(ASXL1):c.3102A>T (p.Lys1034Asn)
|
|
|
|
NM_015338.6(ASXL1):c.3370C>G (p.Pro1124Ala)
|
|
|
|
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)
|
rs1569337176
|
|
|
NM_015338.6(ASXL1):c.3677T>A (p.Leu1226Gln)
|
|
|
|
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter)
|
rs1569339085
|
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
|
NM_015346.4(ZFYVE26):c.887-13G>A
|
|
|
|
NM_015354.3(NUP188):c.2347A>G (p.Ile783Val)
|
|
|
|
NM_015354.3(NUP188):c.2640+19C>A
|
|
|
|
NM_015355.4(SUZ12):c.1039G>A (p.Glu347Lys)
|
|
|
|
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)
|
rs150146590
|
|
|
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)
|
rs137852839
|
|
|
NM_015404.4(WHRN):c.375del (p.Ala126fs)
|
rs751838091
|
|
|
NM_015409.5(EP400):c.1990A>G (p.Thr664Ala)
|
rs1201953707
|
|
|
NM_015425.6(POLR1A):c.4244C>T (p.Ala1415Val)
|
|
|
|
NM_015426.5(POC1A):c.1126_1129delACAG
|
|
|
|
NM_015443.4(KANSL1):c.1290-3dup
|
|
|
|
NM_015443.4(KANSL1):c.1892C>G (p.Pro631Arg)
|
|
|
|
NM_015443.4(KANSL1):c.2906C>G (p.Pro969Arg)
|
rs2077030679
|
|
|
NM_015443.4(KANSL1):c.3063C>T (p.Ser1021=)
|
|
|
|
NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)
|
|
|
|
NM_015443.4(KANSL1):c.611del (p.Gly204fs)
|
|
|
|
NM_015459.5(ATL3):c.1582dup (p.Asp528fs)
|
|
|
|
NM_015465.5(GEMIN5):c.1802C>T (p.Ala601Val)
|
|
|
|
NM_015465.5(GEMIN5):c.3337A>G (p.Ser1113Gly)
|
|
|
|
NM_015465.5(GEMIN5):c.4359+1G>T
|
rs1763176914
|
|
|
NM_015466.4(PTPN23):c.1744C>T (p.Gln582Ter)
|
|
|
|
NM_015466.4(PTPN23):c.2029G>A (p.Asp677Asn)
|
|
|
|
NM_015466.4(PTPN23):c.2038G>A (p.Ala680Thr)
|
|
|
|
NM_015466.4(PTPN23):c.4495C>T (p.Gln1499Ter)
|
|
|
|
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
|
|
|
|
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
|
|
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
|
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys)
|
rs923362391
|
|
|
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)
|
rs778647626
|
|
|
NM_015474.4(SAMHD1):c.767A>C (p.Gln256Pro)
|
|
|
|
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
|
|
|
|
NM_015488.5(PNKD):c.458_465+1del
|
rs1464135710
|
|
|
NM_015488.5(PNKD):c.585del (p.Ser196fs)
|
rs761519363
|
|
|
NM_015488.5(PNKD):c.951G>A (p.Trp317Ter)
|
rs2106298428
|
|
|
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)
|
rs756980496
|
|
|
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
|
|
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
|
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)
|
rs74365027
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
|
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
|
|
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
|
NM_015509.4(NECAP1):c.291G>T (p.Gln97His)
|
|
|
|
NM_015557.3(CHD5):c.*46+15G>A
|
|
|
|
NM_015557.3(CHD5):c.1411C>T (p.Arg471Trp)
|
|
|
|
NM_015557.3(CHD5):c.3627G>A (p.Met1209Ile)
|
|
|
|
NM_015557.3(CHD5):c.4336G>T (p.Ala1446Ser)
|
|
|
|
NM_015557.3(CHD5):c.4672C>G (p.Leu1558Val)
|
|
|
|
NM_015557.3(CHD5):c.5003-3delinsGA
|
|
|
|
NM_015557.3(CHD5):c.931G>T (p.Val311Leu)
|
|
|
|
NM_015559.3(SETBP1):c.1058A>G (p.Asp353Gly)
|
rs559254343
|
|
|
NM_015559.3(SETBP1):c.1872G>A (p.Lys624=)
|
|
|
|
NM_015559.3(SETBP1):c.2762A>G (p.His921Arg)
|
|
|
|
NM_015559.3(SETBP1):c.3147A>T (p.Ala1049=)
|
|
|
|
NM_015559.3(SETBP1):c.3565C>A (p.Arg1189=)
|
rs1380272330
|
|
|
NM_015559.3(SETBP1):c.3957G>A (p.Met1319Ile)
|
rs2145116923
|
|
|
NM_015559.3(SETBP1):c.4075A>G (p.Met1359Val)
|
|
|
|
NM_015559.3(SETBP1):c.4178C>T (p.Ser1393Phe)
|
|
|
|
NM_015559.3(SETBP1):c.4201C>G (p.Arg1401Gly)
|
|
|
|
NM_015559.3(SETBP1):c.4528G>C (p.Glu1510Gln)
|
|
|
|
NM_015559.3(SETBP1):c.923G>A (p.Cys308Tyr)
|
|
|
|
NM_015570.4(AUTS2):c.2584_2585delinsTT (p.Pro862Leu)
|
|
|
|
NM_015570.4(AUTS2):c.2734_2739dup (p.Lys912_Glu913dup)
|
rs1554488624
|
|
|
NM_015570.4(AUTS2):c.2820G>A (p.Pro940=)
|
|
|
|
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)
|
rs1585645384
|
|
|
NM_015599.3(PGM3):c.-2-185C>T
|
rs565900346
|
|
|
NM_015599.3(PGM3):c.114_118del (p.Met39fs)
|
|
|
|
NM_015599.3(PGM3):c.1539+2T>C
|
rs1786839596
|
|
|
NM_015599.3(PGM3):c.162del (p.Lys54fs)
|
|
|
|
NM_015599.3(PGM3):c.468G>T (p.Leu156Phe)
|
rs62419258
|
|
|
NM_015602.4(TOR1AIP1):c.323C>G (p.Ser108Cys)
|
|
|
|
NM_015627.3(LDLRAP1):c.*6C>T
|
|
|
|
NM_015627.3(LDLRAP1):c.122C>A (p.Thr41Lys)
|
|
|
|
NM_015627.3(LDLRAP1):c.231+3G>A
|
|
|
|
NM_015627.3(LDLRAP1):c.232-13G>C
|
|
|
|
NM_015627.3(LDLRAP1):c.337A>G (p.Ile113Val)
|
|
|
|
NM_015627.3(LDLRAP1):c.360A>G (p.Thr120=)
|
|
|
|
NM_015627.3(LDLRAP1):c.374A>T (p.His125Leu)
|
|
|
|
NM_015627.3(LDLRAP1):c.458T>C (p.Met153Thr)
|
|
|
|
NM_015627.3(LDLRAP1):c.48C>G (p.Ser16Arg)
|
rs2043858170
|
|
|
NM_015627.3(LDLRAP1):c.502G>A (p.Ala168Thr)
|
|
|
|
NM_015627.3(LDLRAP1):c.533-1G>A
|
rs762148512
|
|
|
NM_015627.3(LDLRAP1):c.601C>G (p.Pro201Ala)
|
|
|
|
NM_015627.3(LDLRAP1):c.601_604delinsGCCC (p.Pro201_Ser202delinsAlaPro)
|
|
|
|
NM_015627.3(LDLRAP1):c.602C>G (p.Pro201Arg)
|
|
|
|
NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His)
|
rs386629678
|
|
|
NM_015627.3(LDLRAP1):c.616+12C>T
|
|
|
|
NM_015627.3(LDLRAP1):c.617-14C>G
|
rs146324847
|
|
|
NM_015627.3(LDLRAP1):c.626C>G (p.Thr209Ser)
|
|
|
|
NM_015627.3(LDLRAP1):c.653_654inv (p.Thr218Met)
|
|
|
|
NM_015627.3(LDLRAP1):c.67G>C (p.Gly23Arg)
|
|
|
|
NM_015627.3(LDLRAP1):c.705G>C (p.Glu235Asp)
|
|
|
|
NM_015627.3(LDLRAP1):c.733A>G (p.Ser245Gly)
|
rs2044408614
|
|
|
NM_015627.3(LDLRAP1):c.782G>A (p.Arg261Lys)
|
|
|
|
NM_015627.3(LDLRAP1):c.79C>T (p.Arg27Trp)
|
|
|
|
NM_015627.3(LDLRAP1):c.88+15G>T
|
|
|
|
NM_015627.3(LDLRAP1):c.89-16C>T
|
|
|
|
NM_015631.6(TCTN3):c.1561C>T (p.Arg521Ter)
|
|
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
|
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
|
|
|
|
NM_015656.2(KIF26A):c.4676C>T (p.Ala1559Val)
|
|
|
|
NM_015656.2(KIF26A):c.5297C>T (p.Pro1766Leu)
|
|
|
|
NM_015662.3(IFT172):c.4631_4632del (p.Arg1544fs)
|
rs2148472644
|
|
|
NM_015665.6(AAAS):c.1639dup (p.Ter547LeuextTer?)
|
|
|
|
NM_015665.6(AAAS):c.170C>T (p.Thr57Ile)
|
rs773065657
|
|
|
NM_015665.6(AAAS):c.211del (p.His71fs)
|
rs765577880
|
|
|
NM_015665.6(AAAS):c.387C>A (p.Phe129Leu)
|
rs780649615
|
|
|
NM_015665.6(AAAS):c.810+1G>A
|
|
|
|
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
|
|
|
|
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
|
|
|
|
NM_015702.3(MMADHC):c.372+1G>T
|
rs755561981
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
|
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
|
rs141093638
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
|
NM_015713.5(RRM2B):c.48+188del
|
rs758091261
|
|
|
NM_015721.3(GEMIN4):c.1852C>T (p.Pro618Ser)
|
|
|
|
NM_015721.3(GEMIN4):c.803A>G (p.Lys268Arg)
|
|
|
|
NM_015726.4(DCAF8):c.1561-12T>C
|
|
|
|
NM_015726.4(DCAF8):c.1684C>T (p.Arg562Ter)
|
|
|
|
NM_015726.4(DCAF8):c.1726T>C (p.Ser576Pro)
|
|
|
|
NM_015726.4(DCAF8):c.959+4A>C
|
|
|
|
NM_015895.5(GMNN):c.626T>C (p.Ile209Thr)
|
|
|
|
NM_015898.4(ZBTB7A):c.807del (p.Asn269fs)
|
|
|
|
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
|
|
|
|
NM_015909.4(NBAS):c.180A>C (p.Leu60Phe)
|
rs761264279
|
|
|
NM_015909.4(NBAS):c.1A>T (p.Met1Leu)
|
rs368516200
|
|
|
NM_015909.4(NBAS):c.2764-1G>C
|
|
|
|
NM_015909.4(NBAS):c.287+6G>C
|
rs577292051
|
|
|
NM_015909.4(NBAS):c.2950del (p.Ile984fs)
|
rs776797592
|
|
|
NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)
|
|
|
|
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter)
|
rs2148225587
|
|
|
NM_015909.4(NBAS):c.4461+2T>C
|
|
|
|
NM_015909.4(NBAS):c.4520del (p.Leu1507fs)
|
|
|
|
NM_015909.4(NBAS):c.4698_4741del (p.Ser1567fs)
|
|
|
|
NM_015909.4(NBAS):c.4838_4839del (p.Val1613fs)
|
|
|
|
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
|
|
|
|
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
|
|
|
|
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
|
|
|
|
NM_015909.4(NBAS):c.603_605del (p.Leu202del)
|
rs796065038
|
|
|
NM_015909.4(NBAS):c.686dup (p.Ser230fs)
|
rs759315662
|
|
|
NM_015909.4(NBAS):c.6877del (p.Leu2293fs)
|
rs761634052
|
|
|
NM_015909.4(NBAS):c.703_705del (p.Tyr235del)
|
rs774017689
|
|
|
NM_015909.4(NBAS):c.7093C>T (p.Arg2365Cys)
|
|
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
|
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs)
|
rs1181733510
|
|
|
NM_015922.3(NSDHL):c.1037C>A (p.Ala346Asp)
|
|
|
|
NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)
|
|
|
|
NM_015922.3(NSDHL):c.891C>T (p.Tyr297=)
|
|
|
|
NM_015922.3(NSDHL):c.901T>A (p.Tyr301Asn)
|
rs144110486
|
|
|
NM_015932.6(POMP):c.163-5del
|
rs2137795105
|
|
|
NM_015937.6(PIGT):c.1570A>T (p.Met524Leu)
|
|
|
|
NM_015959.4(TMX2):c.818A>G (p.Asn273Ser)
|
|
|
|
NM_015981.4(CAMK2A):c.1060A>G (p.Thr354Ala)
|
|
|
|
NM_015981.4(CAMK2A):c.1142+17C>A
|
|
|
|
NM_015981.4(CAMK2A):c.1467-7C>G
|
|
|
|
NM_015981.4(CAMK2A):c.273-6C>T
|
|
|
|
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser)
|
rs111556571
|
|
|
NM_016030.6(TRAPPC12):c.1963G>C (p.Val655Leu)
|
|
|
|
NM_016032.4(ZDHHC9):c.949A>T (p.Thr317Ser)
|
rs1927624839
|
|
|
NM_016034.5(MRPS2):c.300-2A>G
|
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
|
NM_016042.4(EXOSC3):c.17C>G (p.Ser6Cys)
|
rs749691951
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
|
NM_016042.4(EXOSC3):c.545A>T (p.Asp182Val)
|
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
|
NM_016042.4(EXOSC3):c.624_626+1del
|
rs769374744
|
|
|
NM_016042.4(EXOSC3):c.673dup (p.Tyr225fs)
|
|
|
|
NM_016042.4(EXOSC3):c.85C>T (p.Leu29Phe)
|
rs1828677509
|
|
|
NM_016058.5(TPRKB):c.420_423del (p.Met140fs)
|
|
|
|
NM_016111.4(TELO2):c.1826G>T (p.Arg609Leu)
|
|
|
|
NM_016111.4(TELO2):c.466C>G (p.Leu156Val)
|
|
|
|
NM_016120.4(RLIM):c.485G>A (p.Arg162His)
|
|
|
|
NM_016138.5(COQ7):c.507G>C (p.Gln169His)
|
|
|
|
NM_016139.4(CHCHD2):c.115C>A (p.Pro39Thr)
|
|
|
|
NM_016139.4(CHCHD2):c.151C>T (p.Arg51Trp)
|
|
|
|
NM_016156.6(MTMR2):c.1096del (p.Lys367fs)
|
|
|
|
NM_016156.6(MTMR2):c.1610C>T (p.Thr537Ile)
|
|
|
|
NM_016180.5(SLC45A2):c.328G>C (p.Gly110Arg)
|
|
|
|
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His)
|
rs760780597
|
|
|
NM_016188.5(ACTL6B):c.993C>T (p.Gly331=)
|
|
|
|
NM_016194.4(GNB5):c.262del (p.Glu88fs)
|
rs768022031
|
|
|
NM_016194.4(GNB5):c.494+1G>T
|
|
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
|
NM_016203.4(PRKAG2):c.1106+15T>G
|
rs193922696
|
|
|
NM_016203.4(PRKAG2):c.1399+8T>C
|
rs750475269
|
|
|
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)
|
rs267606976
|
|
|
NM_016203.4(PRKAG2):c.1679-19A>T
|
rs200262620
|
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
|
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del)
|
rs1002236859
|
|
|
NM_016203.4(PRKAG2):c.819C>G (p.Ile273Met)
|
rs764244463
|
|
|
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)
|
rs193922697
|
|
|
NM_016213.5(TRIP4):c.272-1G>T
|
|
|
|
NM_016218.6(POLK):c.2207_2208del (p.Ser735_Phe736insTer)
|
|
|
|
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs)
|
rs2142436425
|
|
|
NM_016239.4(MYO15A):c.439G>T (p.Glu147Ter)
|
|
|
|
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter)
|
rs549138385
|
|
|
NM_016239.4(MYO15A):c.4828G>A (p.Glu1610Lys)
|
|
|
|
NM_016239.4(MYO15A):c.8552C>T (p.Ala2851Val)
|
|
|
|
NM_016239.4(MYO15A):c.8896G>A (p.Gly2966Ser)
|
rs753596096
|
|
|
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
|
|
|
|
NM_016263.4(FZR1):c.826G>A (p.Ala276Thr)
|
|
|
|
NM_016277.5(RAB23):c.1A>C (p.Met1Leu)
|
|
|
|
NM_016277.5(RAB23):c.467del (p.Leu156fs)
|
|
|
|
NM_016277.5(RAB23):c.83G>A (p.Arg28Gln)
|
|
|
|
NM_016284.5(CNOT1):c.1585-14del
|
|
|
|
NM_016284.5(CNOT1):c.1624A>G (p.Met542Val)
|
|
|
|
NM_016284.5(CNOT1):c.225T>G (p.Ile75Met)
|
|
|
|
NM_016284.5(CNOT1):c.326C>A (p.Pro109His)
|
|
|
|
NM_016327.3(UPB1):c.670C>T (p.Gln224Ter)
|
|
|
|
NM_016333.4(SRRM2):c.7240C>T (p.Pro2414Ser)
|
|
|
|
NM_016333.4(SRRM2):c.8250-12C>G
|
|
|
|
NM_016335.6(PRODH):c.1A>G (p.Met1Val)
|
rs1036292619
|
|
|
NM_016335.6(PRODH):c.733C>T (p.Leu245=)
|
|
|
|
NM_016343.4(CENPF):c.1090C>G (p.Leu364Val)
|
|
|
|
NM_016343.4(CENPF):c.40A>G (p.Thr14Ala)
|
|
|
|
NM_016363.5(GP6):c.*531T>C
|
|
|
|
NM_016363.5(GP6):c.325+17C>T
|
|
|
|
NM_016363.5(GP6):c.60G>A (p.Ala20=)
|
|
|
|
NM_016363.5(GP6):c.664+12A>G
|
|
|
|
NM_016363.5(GP6):c.67+15A>C
|
|
|
|
NM_016363.5(GP6):c.932CCCTCCCGC[1] (p.308PLP[2])
|
|
|
|
NM_016373.4(WWOX):c.*134C>T
|
|
|
|
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)
|
rs1484856529
|
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
|
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe)
|
rs1023419687
|
|
|
NM_016408.4(CDK5RAP1):c.1107+5G>A
|
rs759907757
|
|
|
NM_016464.5(TMEM138):c.415G>T (p.Val139Leu)
|
rs141029883
|
|
|
NM_016529.6(ATP8A2):c.1185+5G>T
|
|
|
|
NM_016529.6(ATP8A2):c.2449_2451del (p.Leu817del)
|
rs1566119701
|
|
|
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
|
|
|
|
NM_016589.4(TIMMDC1):c.194+2T>C
|
|
|
|
NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)
|
|
|
|
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs)
|
rs750461248
|
|
|
NM_016599.5(MYOZ2):c.-3dup
|
rs397517288
|
|
|
NM_016604.4(KDM3B):c.3398C>A (p.Ser1133Tyr)
|
|
|
|
NM_016604.4(KDM3B):c.3761C>G (p.Pro1254Arg)
|
|
|
|
NM_016604.4(KDM3B):c.583C>A (p.Pro195Thr)
|
|
|
|
NM_016604.4(KDM3B):c.92C>T (p.Ala31Val)
|
|
|
|
NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)
|
|
|
|
NM_016628.5(WAC):c.139C>T (p.Arg47Ter)
|
rs368543869
|
|
|
NM_016628.5(WAC):c.451C>G (p.Arg151Gly)
|
rs886041614
|
|
|
NM_016628.5(WAC):c.611-3A>C
|
|
|
|
NM_016628.5(WAC):c.879A>C (p.Thr293=)
|
|
|
|
NM_016628.5(WAC):c.970A>T (p.Thr324Ser)
|
|
|
|
NM_016653.3(MAP3K20):c.1894C>T (p.Gln632Ter)
|
|
|
|
NM_016824.5(ADD3):c.1733-1G>A
|
|
|
|
NM_016938.5(EFEMP2):c.-7-12A>G
|
|
|
|
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
|
|
|
|
NM_016938.5(EFEMP2):c.160+17G>A
|
|
|
|
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=)
|
rs143873931
|
|
|
NM_016938.5(EFEMP2):c.311A>G (p.Gln104Arg)
|
|
|
|
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu)
|
rs376350227
|
|
|
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=)
|
rs376350227
|
|
|
NM_016938.5(EFEMP2):c.781G>A (p.Glu261Lys)
|
|
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
|
NM_016953.4(PDE11A):c.2611G>C (p.Glu871Gln)
|
|
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
|
NM_016955.4(SEPSECS):c.114+5C>T
|
|
|
|
NM_017414.4(USP18):c.220G>A (p.Val74Ile)
|
|
|
|
NM_017414.4(USP18):c.891+1G>T
|
|
|
|
NM_017415.3(KLHL3):c.903+16A>G
|
|
|
|
NM_017491.5(WDR1):c.605A>C (p.Asn202Thr)
|
|
|
|
NM_017514.5(PLXNA3):c.1540C>T (p.Arg514Ter)
|
|
|
|
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)
|
|
|
|
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)
|
rs1187271694
|
|
|
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp)
|
rs1243834294
|
|
|
NM_017547.4(FOXRED1):c.1057G>T (p.Glu353Ter)
|
rs780131344
|
|
|
NM_017547.4(FOXRED1):c.1384C>T (p.Gln462Ter)
|
|
|
|
NM_017547.4(FOXRED1):c.1403C>G (p.Pro468Arg)
|
rs142489681
|
|
|
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
|
|
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
|
NM_017547.4(FOXRED1):c.733+1G>A
|
|
|
|
NM_017556.4(FBLIM1):c.113G>A (p.Arg38Gln)
|
|
|
|
NM_017563.5(IL17RD):c.31T>G (p.Phe11Val)
|
|
|
|
NM_017613.4(DONSON):c.965-13G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1441+11C>T
|
rs376506127
|
|
|
NM_017617.5(NOTCH1):c.1904-20G>C
|
|
|
|
NM_017617.5(NOTCH1):c.2049G>C (p.Ala683=)
|
|
|
|
NM_017617.5(NOTCH1):c.2354-16G>C
|
|
|
|
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)
|
rs61751551
|
|
|
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
|
rs750170645
|
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
|
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.3326-12C>T
|
|
|
|
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)
|
rs201215245
|
|
|
NM_017617.5(NOTCH1):c.483C>T (p.Ser161=)
|
|
|
|
NM_017617.5(NOTCH1):c.5019-13_5019-10del
|
rs374419074
|
|
|
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
|
|
|
|
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=)
|
rs920077656
|
|
|
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=)
|
rs1554826678
|
|
|
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)
|
rs554843595
|
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
|
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
|
|
|
|
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)
|
rs375772590
|
|
|
NM_017617.5(NOTCH1):c.750C>T (p.Thr250=)
|
rs375772590
|
|
|
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)
|
rs375576856
|
|
|
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=)
|
rs370124241
|
|
|
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[7] (p.26DFGGG[7])
|
rs754008809
|
|
|
NM_017636.4(TRPM4):c.1356C>T (p.Gly452=)
|
|
|
|
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del)
|
rs878855029
|
|
|
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1])
|
rs113100797
|
|
|
NM_017636.4(TRPM4):c.3132-20T>C
|
|
|
|
NM_017649.5(CNNM2):c.2019A>C (p.Glu673Asp)
|
|
|
|
NM_017649.5(CNNM2):c.2299C>T (p.Arg767Trp)
|
|
|
|
NM_017649.5(CNNM2):c.415G>T (p.Ala139Ser)
|
|
|
|
NM_017654.4(SAMD9):c.3000T>A (p.Tyr1000Ter)
|
rs1428124013
|
|
|
NM_017654.4(SAMD9):c.3402G>A (p.Trp1134Ter)
|
|
|
|
NM_017654.4(SAMD9):c.4270C>G (p.Leu1424Val)
|
|
|
|
NM_017654.4(SAMD9):c.4276T>C (p.Tyr1426His)
|
|
|
|
NM_017667.4(VPS50):c.1361+1G>T
|
|
|
|
NM_017668.3(NDE1):c.*388del
|
rs543763112
|
|
|
NM_017668.3(NDE1):c.948-4460_948-4457del
|
rs766943222
|
|
|
NM_017668.3(NDE1):c.948-4460del
|
rs193922631
|
|
|
NM_017668.3(NDE1):c.948-5889A>G
|
rs193922632
|
|
|
NM_017668.3(NDE1):c.948-7057G>A
|
rs371348553
|
|
|
NM_017672.6(TRPM7):c.1504C>A (p.Pro502Thr)
|
|
|
|
NM_017672.6(TRPM7):c.1609T>C (p.Tyr537His)
|
|
|
|
NM_017672.6(TRPM7):c.4333_4334del (p.Arg1444_Asp1445insTer)
|
rs2059433712
|
|
|
NM_017672.6(TRPM7):c.4396A>G (p.Asn1466Asp)
|
|
|
|
NM_017672.6(TRPM7):c.4557+18A>G
|
|
|
|
NM_017672.6(TRPM7):c.5156T>C (p.Val1719Ala)
|
|
|
|
NM_017672.6(TRPM7):c.590G>A (p.Arg197Gln)
|
|
|
|
NM_017714.3(TASP1):c.675+1G>T
|
|
|
|
NM_017721.5(CC2D1A):c.1610C>T (p.Ser537Leu)
|
|
|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
|
NM_017736.5(THUMPD1):c.290del (p.Ala97fs)
|
|
|
|
NM_017739.4(POMGNT1):c.164T>G (p.Ile55Ser)
|
rs2148219221
|
|
|
NM_017739.4(POMGNT1):c.1943dup (p.Glu650fs)
|
rs1557668503
|
|
|
NM_017739.4(POMGNT1):c.293T>A (p.Val98Asp)
|
rs1571669565
|
|
|
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys)
|
rs886044363
|
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
|
NM_017757.3(ZNF407):c.266A>G (p.Gln89Arg)
|
|
|
|
NM_017760.7(NCAPG2):c.1004T>G (p.Leu335Arg)
|
|
|
|
NM_017760.7(NCAPG2):c.1088C>T (p.Pro363Leu)
|
|
|
|
NM_017760.7(NCAPG2):c.2723G>A (p.Arg908Gln)
|
|
|
|
NM_017760.7(NCAPG2):c.79-4A>G
|
|
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
|
NM_017777.4(MKS1):c.1572del (p.Ile525fs)
|
|
|
|
NM_017777.4(MKS1):c.763G>A (p.Gly255Arg)
|
rs201237547
|
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
|
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)
|
|
|
|
NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
|
|
|
|
NM_017780.4(CHD7):c.2021del (p.Pro674fs)
|
rs1811220142
|
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
|
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)
|
rs200220845
|
|
|
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His)
|
rs1554599432
|
|
|
NM_017780.4(CHD7):c.5126A>T (p.Asp1709Val)
|
rs768971850
|
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
|
NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu)
|
|
|
|
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
|
|
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
|
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser)
|
rs370129047
|
|
|
NM_017780.4(CHD7):c.973A>C (p.Asn325His)
|
rs1563561089
|
|
|
NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)
|
|
|
|
NM_017841.4(SDHAF2):c.370+2T>C
|
rs770444026
|
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
|
NM_017849.4(TMEM127):c.291C>T (p.Ala97=)
|
rs546105756
|
|
|
NM_017849.4(TMEM127):c.560C>G (p.Ser187Ter)
|
|
|
|
NM_017864.4(INTS8):c.2210G>A (p.Gly737Asp)
|
|
|
|
NM_017864.4(INTS8):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
|
|
NM_017882.3(CLN6):c.507CTA[1] (p.Tyr172del)
|
|
|
|
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr)
|
rs2141136108
|
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
|
NM_017917.4(PPP2R3C):c.713_714del (p.Ile238fs)
|
|
|
|
NM_017934.7(PHIP):c.1505T>C (p.Ile502Thr)
|
|
|
|
NM_017934.7(PHIP):c.2072G>T (p.Arg691Leu)
|
|
|
|
NM_017934.7(PHIP):c.440-15T>C
|
|
|
|
NM_017934.7(PHIP):c.5019_5020insG (p.Leu1674fs)
|
|
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
|
NM_017946.4(FKBP14):c.52_55del (p.Ile18fs)
|
|
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
|
NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)
|
|
|
|
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)
|
rs762710723
|
|
|
NM_018006.5(TRMU):c.554T>C (p.Leu185Pro)
|
|
|
|
NM_018006.5(TRMU):c.652-2A>G
|
|
|
|
NM_018006.5(TRMU):c.706-1G>A
|
rs778799889
|
|
|
NM_018006.5(TRMU):c.773-1G>C
|
|
|
|
NM_018006.5(TRMU):c.77_82+16dup
|
|
|
|
NM_018006.5(TRMU):c.873+1G>C
|
|
|
|
NM_018006.5(TRMU):c.882del (p.Thr295fs)
|
|
|
|
NM_018026.4(PACS1):c.1138G>A (p.Asp380Asn)
|
rs940755396
|
|
|
NM_018026.4(PACS1):c.1339A>T (p.Asn447Tyr)
|
rs1855491969
|
|
|
NM_018026.4(PACS1):c.1994-7C>T
|
|
|
|
NM_018026.4(PACS1):c.357-4C>T
|
|
|
|
NM_018026.4(PACS1):c.875G>T (p.Ser292Ile)
|
|
|
|
NM_018052.5(VAC14):c.947-2A>G
|
|
|
|
NM_018062.4(FANCL):c.*102_*105dup
|
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
|
NM_018062.4(FANCL):c.49C>T (p.Pro17Ser)
|
rs2104081877
|
|
|
NM_018062.4(FANCL):c.822-15dup
|
rs570217357
|
|
|
NM_018063.5(HELLS):c.41C>A (p.Ala14Asp)
|
rs1842754714
|
|
|
NM_018063.5(HELLS):c.453T>A (p.Ala151=)
|
|
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
|
NM_018077.3(RBM28):c.2098C>T (p.Gln700Ter)
|
|
|
|
NM_018100.4(EFHC1):c.917-16C>T
|
|
|
|
NM_018112.3(TMEM38B):c.3G>A (p.Met1Ile)
|
|
|
|
NM_018112.3(TMEM38B):c.532A>T (p.Lys178Ter)
|
|
|
|
NM_018116.4(MSTO1):c.44A>G (p.His15Arg)
|
rs926774989
|
|
|
NM_018117.12(WDR11):c.1849G>T (p.Glu617Ter)
|
rs1847196520
|
|
|
NM_018117.12(WDR11):c.2144G>C (p.Cys715Ser)
|
|
|
|
NM_018122.5(DARS2):c.161dup (p.Cys54fs)
|
|
|
|
NM_018122.5(DARS2):c.294+2_294+7del
|
|
|
|
NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter)
|
|
|
|
NM_018129.4(PNPO):c.563dup (p.Asn188fs)
|
|
|
|
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter)
|
rs2125096196
|
|
|
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)
|
rs587783265
|
|
|
NM_018136.5(ASPM):c.8195_8196del (p.Arg2732fs)
|
|
|
|
NM_018149.7(SMG8):c.1534del (p.Gln512fs)
|
|
|
|
NM_018149.7(SMG8):c.1667dup (p.Tyr556Ter)
|
|
|
|
NM_018238.4(AGK):c.518+1G>A
|
|
|
|
NM_018245.3(OGDHL):c.2140+1G>A
|
|
|
|
NM_018249.6(CDK5RAP2):c.4039_4041delinsGTA (p.Leu1347Val)
|
rs1554734754
|
|
|
NM_018249.6(CDK5RAP2):c.4414+1G>A
|
|
|
|
NM_018263.6(ASXL2):c.*10A>G
|
|
|
|
NM_018263.6(ASXL2):c.1529C>T (p.Ser510Phe)
|
|
|
|
NM_018263.6(ASXL2):c.3839A>T (p.Lys1280Met)
|
|
|
|
NM_018263.6(ASXL2):c.4170G>C (p.Glu1390Asp)
|
|
|
|
NM_018263.6(ASXL2):c.632-19A>C
|
|
|
|
NM_018294.6(CWF19L1):c.1037G>T (p.Gly346Val)
|
|
|
|
NM_018294.6(CWF19L1):c.1045-2A>C
|
|
|
|
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
|
|
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
|
NM_018297.4(NGLY1):c.1612-34A>G
|
|
|
|
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs)
|
rs2125442902
|
|
|
NM_018297.4(NGLY1):c.1789G>A (p.Asp597Asn)
|
|
|
|
NM_018297.4(NGLY1):c.1790-12del
|
rs531889481
|
|
|
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)
|
rs587776982
|
|
|
NM_018297.4(NGLY1):c.376C>T (p.Gln126Ter)
|
|
|
|
NM_018297.4(NGLY1):c.544G>C (p.Val182Leu)
|
rs981738620
|
|
|
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly)
|
rs551759932
|
|
|
NM_018328.5:c.(-925+1_-924-1)_(-831+1_-830-1)del
|
|
|
|
NM_018341.3(ERMARD):c.605+1G>A
|
rs2128344292
|
|
|
NM_018367.7(ACER3):c.227G>A (p.Gly76Glu)
|
rs1947914876
|
|
|
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)
|
rs764930914
|
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
|
NM_018392.5(ZGRF1):c.5089A>G (p.Thr1697Ala)
|
|
|
|
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)
|
rs777069665
|
|
|
NM_018418.5(SPATA7):c.1249G>C (p.Val417Leu)
|
rs1353547274
|
|
|
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
|
|
|
|
NM_018418.5(SPATA7):c.1582del (p.Ser528fs)
|
|
|
|
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)
|
rs777346333
|
|
|
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
|
|
|
|
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
|
rs200244203
|
|
|
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
|
|
|
|
NM_018418.5(SPATA7):c.55C>G (p.Pro19Ala)
|
rs2075741859
|
|
|
NM_018451.5(CENPJ):c.505_506del (p.Gln169fs)
|
|
|
|
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)
|
|
|
|
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)
|
rs587779380
|
|
|
NM_018486.3(HDAC8):c.433A>G (p.Lys145Glu)
|
rs2051860492
|
|
|
NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter)
|
rs2048769063
|
|
|
NM_018489.3(ASH1L):c.179C>T (p.Ala60Val)
|
|
|
|
NM_018489.3(ASH1L):c.1959del (p.Lys653fs)
|
|
|
|
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
|
|
|
|
NM_018489.3(ASH1L):c.5337C>G (p.Ile1779Met)
|
|
|
|
NM_018489.3(ASH1L):c.5603A>C (p.Gln1868Pro)
|
rs1040483514
|
|
|
NM_018489.3(ASH1L):c.5842C>T (p.Pro1948Ser)
|
|
|
|
NM_018489.3(ASH1L):c.8392C>G (p.Pro2798Ala)
|
|
|
|
NM_018489.3(ASH1L):c.8460+11T>C
|
|
|
|
NM_018558.4(GABRQ):c.1618_1619del (p.Lys540fs)
|
rs1931070303
|
|
|
NM_018668.5(VPS33B):c.239A>G (p.Gln80Arg)
|
|
|
|
NM_018668.5(VPS33B):c.701-7_701-6del
|
|
|
|
NM_018668.5(VPS33B):c.728C>T (p.Ser243Phe)
|
|
|
|
NM_018669.6(WDR4):c.441G>A (p.Met147Ile)
|
rs910873595
|
|
|
NM_018676.4(THSD1):c.1996C>T (p.Arg666Ter)
|
|
|
|
NM_018684.4(ZC4H2):c.470C>T (p.Ala157Val)
|
|
|
|
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)
|
|
|
|
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
|
|
|
|
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)
|
rs755802156
|
|
|
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs)
|
rs1734381962
|
|
|
NM_018699.4(PRDM5):c.3G>T (p.Met1Ile)
|
rs1725110495
|
|
|
NM_018699.4(PRDM5):c.414G>T (p.Met138Ile)
|
rs776045160
|
|
|
NM_018699.4(PRDM5):c.475+2T>C
|
|
|
|
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)
|
|
|
|
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)
|
|
|
|
NM_018706.7(DHTKD1):c.2235T>G (p.Tyr745Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.2659-17C>G
|
|
|
|
NM_018706.7(DHTKD1):c.2659-3_2659-2del
|
rs761529786
|
|
|
NM_018706.7(DHTKD1):c.487C>T (p.Arg163Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.562A>G (p.Lys188Glu)
|
|
|
|
NM_018706.7(DHTKD1):c.718-13G>A
|
|
|
|
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)
|
|
|
|
NM_018834.6(MATR3):c.-16_-15del
|
|
|
|
NM_018838.5(NDUFA12):c.305del (p.Pro102fs)
|
|
|
|
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)
|
|
|
|
NM_018896.5(CACNA1G):c.2454-19C>A
|
|
|
|
NM_018896.5(CACNA1G):c.3065-8C>T
|
|
|
|
NM_018896.5(CACNA1G):c.3361C>T (p.Arg1121Trp)
|
|
|
|
NM_018896.5(CACNA1G):c.3721C>T (p.Arg1241Ter)
|
rs1288005196
|
|
|
NM_018896.5(CACNA1G):c.4421A>T (p.Gln1474Leu)
|
|
|
|
NM_018896.5(CACNA1G):c.4735G>A (p.Gly1579Ser)
|
|
|
|
NM_018896.5(CACNA1G):c.6033A>C (p.Thr2011=)
|
|
|
|
NM_018896.5(CACNA1G):c.6234C>T (p.Ser2078=)
|
|
|
|
NM_018896.5(CACNA1G):c.6386C>A (p.Pro2129Gln)
|
|
|
|
NM_018896.5(CACNA1G):c.6692del (p.Pro2231fs)
|
|
|
|
NM_018897.3(DNAH7):c.7208_7212del (p.Ile2403fs)
|
rs759286413
|
|
|
NM_018941.4(CLN8):c.43del (p.Asp15fs)
|
|
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
|
NM_018941.4(CLN8):c.631A>G (p.Met211Val)
|
rs745785480
|
|
|
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
|
|
|
|
NM_018941.4(CLN8):c.725del (p.Thr242fs)
|
rs2129015276
|
|
|
NM_018943.3(TUBA8):c.817G>A (p.Ala273Thr)
|
|
|
|
NM_018946.4(NANS):c.772G>T (p.Glu258Ter)
|
|
|
|
NM_018965.4(TREM2):c.22A>T (p.Ile8Phe)
|
|
|
|
NM_018965.4(TREM2):c.41-20AATG[3]
|
|
|
|
NM_018972.4(GDAP1):c.1038C>G (p.Ser346Arg)
|
|
|
|
NM_018972.4(GDAP1):c.118-1G>A
|
|
|
|
NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
|
|
|
|
NM_018972.4(GDAP1):c.345C>G (p.Ser115Arg)
|
|
|
|
NM_018972.4(GDAP1):c.348G>A (p.Met116Ile)
|
|
|
|
NM_018972.4(GDAP1):c.524C>G (p.Ala175Gly)
|
|
|
|
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
|
rs1586804849
|
|
|
NM_018979.4(WNK1):c.3263C>T (p.Ser1088Phe)
|
|
|
|
NM_018979.4(WNK1):c.5684T>C (p.Leu1895Pro)
|
|
|
|
NM_018979.4(WNK1):c.6935C>G (p.Ser2312Cys)
|
|
|
|
NM_018993.4(RIN2):c.842G>C (p.Ser281Thr)
|
|
|
|
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs)
|
rs1567739042
|
|
|
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)
|
|
|
|
NM_019042.5(PUS7):c.788A>C (p.Tyr263Ser)
|
|
|
|
NM_019066.5(MAGEL2):c.1922C>T (p.Pro641Leu)
|
|
|
|
NM_019066.5(MAGEL2):c.2705C>A (p.Thr902Lys)
|
|
|
|
NM_019066.5(MAGEL2):c.3076G>T (p.Ala1026Ser)
|
|
|
|
NM_019066.5(MAGEL2):c.3118C>T (p.Pro1040Ser)
|
|
|
|
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs)
|
rs998860333
|
|
|
NM_019066.5(MAGEL2):c.3544T>A (p.Phe1182Ile)
|
rs2140711896
|
|
|
NM_019074.4(DLL4):c.1336C>A (p.Arg446Ser)
|
rs751873412
|
|
|
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)
|
|
|
|
NM_019098.5(CNGB3):c.2103+3A>G
|
|
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
|
NM_019109.5(ALG1):c.1188-1G>A
|
rs2142728485
|
|
|
NM_019109.5(ALG1):c.1393dup (p.Ter465LeuextTer?)
|
|
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
|
NM_019109.5(ALG1):c.390+13C>T
|
rs62036244
|
|
|
NM_019109.5(ALG1):c.[212C>T;221A>T]
|
|
|
|
NM_019112.4(ABCA7):c.2535dup (p.Gly846fs)
|
rs1487739224
|
|
|
NM_019112.4(ABCA7):c.3397G>C (p.Gly1133Arg)
|
|
|
|
NM_019112.4(ABCA7):c.5139T>G (p.Phe1713Leu)
|
|
|
|
NM_019112.4(ABCA7):c.6122A>C (p.Glu2041Ala)
|
rs574674874
|
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
|
NM_019616.4(F7):c.185T>C (p.Phe62Ser)
|
|
|
|
NM_019616.4(F7):c.64+1005G>A
|
|
|
|
NM_019616.4(F7):c.742G>A (p.Glu248Lys)
|
|
|
|
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
|
|
|
|
NM_019616.4(F7):c.838G>A (p.Asp280Asn)
|
|
|
|
NM_019842.4(KCNQ5):c.*11_*12del
|
|
|
|
NM_019842.4(KCNQ5):c.1358C>T (p.Thr453Ile)
|
rs2150457602
|
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
|
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)
|
rs863225200
|
|
|
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)
|
rs2131608743
|
|
|
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)
|
rs2131605715
|
|
|
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
|
|
|
|
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
|
|
|
|
NM_019892.6(INPP5E):c.1905_1906del (p.Asn636fs)
|
rs2131604074
|
|
|
NM_019892.6(INPP5E):c.473del (p.Gly158fs)
|
rs779450345
|
|
|
NM_019892.6(INPP5E):c.485C>G (p.Ser162Cys)
|
rs2131618652
|
|
|
NM_020066.5(FMN2):c.1284G>T (p.Ser428=)
|
|
|
|
NM_020066.5(FMN2):c.3149C>T (p.Ala1050Val)
|
|
|
|
NM_020117.11(LARS1):c.1283C>T (p.Pro428Leu)
|
|
|
|
NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)
|
|
|
|
NM_020117.11(LARS1):c.1834G>A (p.Gly612Arg)
|
|
|
|
NM_020117.11(LARS1):c.2130CCT[1] (p.Leu712del)
|
|
|
|
NM_020117.11(LARS1):c.3240C>G (p.His1080Gln)
|
|
|
|
NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)
|
|
|
|
NM_020134.4(DPYSL5):c.312C>A (p.Asp104Glu)
|
|
|
|
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
|
rs755328329
|
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
|
|
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys)
|
rs1057520695
|
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
|
NM_020166.5(MCCC1):c.221_222delinsCC (p.Gln74Pro)
|
|
|
|
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
|
|
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
|
NM_020191.4(MRPS22):c.878+2dup
|
|
|
|
NM_020223.4(FAM20C):c.145G>A (p.Ala49Thr)
|
|
|
|
NM_020223.4(FAM20C):c.474del (p.Ser159fs)
|
|
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
|
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
|
|
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
|
NM_020297.4(ABCC9):c.1006A>G (p.Thr336Ala)
|
|
|
|
NM_020297.4(ABCC9):c.1165-6del
|
rs35857705
|
|
|
NM_020297.4(ABCC9):c.143-1G>C
|
|
|
|
NM_020297.4(ABCC9):c.1456-10del
|
rs763459861
|
|
|
NM_020297.4(ABCC9):c.1619-20C>A
|
rs1357942810
|
|
|
NM_020297.4(ABCC9):c.1629T>C (p.Asn543=)
|
|
|
|
NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter)
|
rs1326389765
|
|
|
NM_020297.4(ABCC9):c.2238-17del
|
rs4148670
|
|
|
NM_020297.4(ABCC9):c.233C>T (p.Ala78Val)
|
rs1253372454
|
|
|
NM_020297.4(ABCC9):c.23ACA[1] (p.Asn9del)
|
rs1949499149
|
|
|
NM_020297.4(ABCC9):c.2644-11G>A
|
rs61926078
|
|
|
NM_020297.4(ABCC9):c.2914A>T (p.Arg972Trp)
|
rs1565731883
|
|
|
NM_020297.4(ABCC9):c.3063G>A (p.Glu1021=)
|
rs1555187269
|
|
|
NM_020297.4(ABCC9):c.3076A>G (p.Asn1026Asp)
|
rs369389402
|
|
|
NM_020297.4(ABCC9):c.3669+4C>T
|
rs189565793
|
|
|
NM_020297.4(ABCC9):c.3868T>C (p.Ser1290Pro)
|
|
|
|
NM_020297.4(ABCC9):c.4103-1G>A
|
rs1189432427
|
|
|
NM_020297.4(ABCC9):c.4112T>G (p.Val1371Gly)
|
|
|
|
NM_020297.4(ABCC9):c.4450-5del
|
rs4148680
|
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
|
NM_020297.4(ABCC9):c.4512+826C>T
|
rs2137103904
|
|
|
NM_020297.4(ABCC9):c.771A>C (p.Ala257=)
|
|
|
|
NM_020297.4(ABCC9):c.817-14_817-4del
|
rs774857795
|
|
|
NM_020297.4(ABCC9):c.817-18del
|
rs199947733
|
|
|
NM_020297.4(ABCC9):c.817-18dup
|
rs199947733
|
|
|
NM_020297.4(ABCC9):c.817-7del
|
rs193922684
|
|
|
NM_020297.4(ABCC9):c.907T>C (p.Phe303Leu)
|
|
|
|
NM_020312.4(COQ9):c.157C>T (p.Gln53Ter)
|
|
|
|
NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile)
|
rs1773402352
|
|
|
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
|
|
|
|
NM_020320.5(RARS2):c.1511+1G>A
|
rs1772453347
|
|
|
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs)
|
rs757778880
|
|
|
NM_020320.5(RARS2):c.213+4C>T
|
|
|
|
NM_020320.5(RARS2):c.297+1G>C
|
|
|
|
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)
|
rs199862050
|
|
|
NM_020320.5(RARS2):c.3G>A (p.Met1Ile)
|
rs2128238503
|
|
|
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
|
|
|
|
NM_020320.5(RARS2):c.488A>G (p.His163Arg)
|
rs1260340118
|
|
|
NM_020320.5(RARS2):c.536-5G>A
|
rs1781141008
|
|
|
NM_020320.5(RARS2):c.613-3927C>T
|
rs1410239766
|
|
|
NM_020320.5(RARS2):c.633_636del (p.Glu212fs)
|
rs755936301
|
|
|
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
|
|
|
|
NM_020320.5(RARS2):c.878+3A>G
|
|
|
|
NM_020338.4(ZMIZ1):c.1534G>A (p.Val512Ile)
|
|
|
|
NM_020338.4(ZMIZ1):c.2749G>A (p.Gly917Arg)
|
|
|
|
NM_020338.4(ZMIZ1):c.770G>A (p.Gly257Asp)
|
rs1472157297
|
|
|
NM_020361.5(CPA6):c.1072C>A (p.Leu358Ile)
|
|
|
|
NM_020361.5(CPA6):c.192G>C (p.Lys64Asn)
|
|
|
|
NM_020365.5(EIF2B3):c.1A>C (p.Met1Leu)
|
rs2148965825
|
|
|
NM_020365.5(EIF2B3):c.284C>T (p.Pro95Leu)
|
rs778945531
|
|
|
NM_020365.5(EIF2B3):c.407A>C (p.Gln136Pro)
|
rs113994023
|
|
|
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
|
|
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
|
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu)
|
rs137853911
|
|
|
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
|
|
|
|
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del)
|
rs281865293
|
|
|
NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter)
|
rs370370070
|
|
|
NM_020401.4(NUP107):c.2670+1G>A
|
|
|
|
NM_020401.4(NUP107):c.2673A>G (p.Val891=)
|
|
|
|
NM_020433.5(JPH2):c.-4T>A
|
|
|
|
NM_020433.5(JPH2):c.471G>A (p.Ser157=)
|
|
|
|
NM_020433.5(JPH2):c.502A>C (p.Ser168Arg)
|
rs869025439
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
|
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
|
|
|
|
NM_020436.5(SALL4):c.2803A>G (p.Ile935Val)
|
|
|
|
NM_020436.5(SALL4):c.526G>A (p.Val176Met)
|
|
|
|
NM_020442.6(VARS2):c.*6C>T
|
|
|
|
NM_020442.6(VARS2):c.100C>G (p.Pro34Ala)
|
|
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
|
|
|
NM_020442.6(VARS2):c.1480-2A>G
|
|
|
|
NM_020442.6(VARS2):c.420del (p.Met141fs)
|
|
|
|
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)
|
rs797044621
|
|
|
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
|
|
|
|
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
|
|
|
|
NM_020451.3(SELENON):c.1772A>G (p.Ter591Trp)
|
rs2124456999
|
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
|
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
|
|
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
|
NM_020451.3(SELENON):c.9_33del (p.Ala4fs)
|
rs886041619
|
|
|
NM_020458.4(TTC7A):c.1322_1323del (p.Val441fs)
|
rs762466884
|
|
|
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter)
|
rs1670398017
|
|
|
NM_020458.4(TTC7A):c.1630del (p.Leu544fs)
|
|
|
|
NM_020458.4(TTC7A):c.1641+1G>A
|
|
|
|
NM_020458.4(TTC7A):c.1802+3G>C
|
rs1572961263
|
|
|
NM_020458.4(TTC7A):c.2387G>A (p.Ser796Asn)
|
rs1684976086
|
|
|
NM_020458.4(TTC7A):c.281del (p.Lys94fs)
|
rs2103966533
|
|
|
NM_020458.4(TTC7A):c.8del (p.Ala3fs)
|
|
|
|
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)
|
rs797044817
|
|
|
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)
|
rs754097561
|
|
|
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)
|
rs797044823
|
|
|
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs)
|
rs1555742780
|
|
|
NM_020533.3(MCOLN1):c.1701C>A (p.Cys567Ter)
|
rs765975281
|
|
|
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)
|
rs751298168
|
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
|
NM_020533.3(MCOLN1):c.571+17A>T
|
rs2146022957
|
|
|
NM_020547.3(AMHR2):c.1510C>T (p.Arg504Cys)
|
|
|
|
NM_020549.5(CHAT):c.1069G>C (p.Gly357Arg)
|
|
|
|
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
|
|
|
|
NM_020549.5(CHAT):c.196_198delinsGG (p.Arg66fs)
|
|
|
|
NM_020549.5(CHAT):c.2209del (p.Glu737fs)
|
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
|
NM_020549.5(CHAT):c.58del (p.Glu20fs)
|
|
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
|
NM_020549.5(CHAT):c.605T>C (p.Met202Thr)
|
|
|
|
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer)
|
rs1838384543
|
|
|
NM_020630.5(RET):c.-234_-230dup
|
rs386134265
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
|
rs113541584
|
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
|
NM_020631.6(PLEKHG5):c.2160_2163delinsA (p.Glu723del)
|
rs386628081
|
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
|
NM_020631.6(PLEKHG5):c.2503_2510del (p.Pro835fs)
|
|
|
|
NM_020632.3(ATP6V0A4):c.1342G>A (p.Gly448Arg)
|
|
|
|
NM_020632.3(ATP6V0A4):c.1418C>T (p.Ser473Phe)
|
|
|
|
NM_020632.3(ATP6V0A4):c.2011-2A>T
|
|
|
|
NM_020632.3(ATP6V0A4):c.2139+1G>T
|
|
|
|
NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln)
|
rs2117166318
|
|
|
NM_020638.3(FGF23):c.162G>C (p.Gln54His)
|
rs193922701
|
|
|
NM_020638.3(FGF23):c.470T>A (p.Phe157Tyr)
|
|
|
|
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)
|
rs193922702
|
|
|
NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)
|
|
|
|
NM_020638.3(FGF23):c.70G>A (p.Ala24Thr)
|
|
|
|
NM_020638.3(FGF23):c.725A>G (p.Glu242Gly)
|
|
|
|
NM_020647.4(JPH1):c.1710C>T (p.Gly570=)
|
|
|
|
NM_020655.4(JPH3):c.434G>A (p.Arg145Gln)
|
|
|
|
NM_020655.4(JPH3):c.524C>T (p.Thr175Met)
|
|
|
|
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)
|
|
|
|
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp)
|
rs2142996825
|
|
|
NM_020699.4(GATAD2B):c.1518T>G (p.His506Gln)
|
|
|
|
NM_020699.4(GATAD2B):c.899C>G (p.Pro300Arg)
|
|
|
|
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro)
|
rs2084581427
|
|
|
NM_020708.5(SLC12A5):c.2719T>C (p.Leu907=)
|
|
|
|
NM_020708.5(SLC12A5):c.280-6T>G
|
|
|
|
NM_020717.5(SHROOM4):c.1628C>T (p.Thr543Ile)
|
|
|
|
NM_020717.5(SHROOM4):c.239C>T (p.Ser80Phe)
|
rs2147456128
|
|
|
NM_020719.3(PRR12):c.4945T>C (p.Phe1649Leu)
|
|
|
|
NM_020738.4(KIDINS220):c.1184G>A (p.Arg395Gln)
|
|
|
|
NM_020738.4(KIDINS220):c.1858A>G (p.Thr620Ala)
|
|
|
|
NM_020738.4(KIDINS220):c.3007G>A (p.Glu1003Lys)
|
|
|
|
NM_020738.4(KIDINS220):c.3374A>G (p.Tyr1125Cys)
|
rs1667135480
|
|
|
NM_020738.4(KIDINS220):c.999+17T>C
|
|
|
|
NM_020745.4(AARS2):c.1289A>G (p.Asp430Gly)
|
|
|
|
NM_020745.4(AARS2):c.2308C>T (p.Gln770Ter)
|
|
|
|
NM_020745.4(AARS2):c.233del (p.Gly78fs)
|
|
|
|
NM_020745.4(AARS2):c.436-2A>C
|
|
|
|
NM_020745.4(AARS2):c.93A>T (p.Ser31=)
|
|
|
|
NM_020754.4(ARHGAP31):c.1847G>A (p.Arg616Gln)
|
|
|
|
NM_020754.4(ARHGAP31):c.2785G>A (p.Ala929Thr)
|
|
|
|
NM_020754.4(ARHGAP31):c.3147C>A (p.His1049Gln)
|
|
|
|
NM_020754.4(ARHGAP31):c.3343A>G (p.Ile1115Val)
|
|
|
|
NM_020754.4(ARHGAP31):c.3659G>A (p.Ser1220Asn)
|
|
|
|
NM_020754.4(ARHGAP31):c.4088C>T (p.Ser1363Leu)
|
|
|
|
NM_020754.4(ARHGAP31):c.4222A>T (p.Lys1408Ter)
|
|
|
|
NM_020774.4(MIB1):c.229+7C>G
|
|
|
|
NM_020778.5(ALPK3):c.1036_1039dup (p.Pro347fs)
|
|
|
|
NM_020778.5(ALPK3):c.1233G>A (p.Val411=)
|
|
|
|
NM_020778.5(ALPK3):c.144-16T>C
|
|
|
|
NM_020778.5(ALPK3):c.1642_1645dup (p.Pro549fs)
|
|
|
|
NM_020778.5(ALPK3):c.1845G>A (p.Lys615=)
|
|
|
|
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer)
|
rs2141567430
|
|
|
NM_020778.5(ALPK3):c.305-18C>A
|
rs1896864
|
|
|
NM_020778.5(ALPK3):c.3464C>T (p.Thr1155Ile)
|
|
|
|
NM_020778.5(ALPK3):c.423-19del
|
rs537375112
|
|
|
NM_020778.5(ALPK3):c.4501A>G (p.Ile1501Val)
|
|
|
|
NM_020779.4(WDR35):c.437-1G>A
|
|
|
|
NM_020791.4(TAOK1):c.1960C>T (p.Arg654Ter)
|
rs2031934299
|
|
|
NM_020806.5(GPHN):c.127G>T (p.Val43Leu)
|
rs117256383
|
|
|
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
|
|
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
|
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)
|
|
|
|
NM_020821.3(VPS13C):c.1009C>G (p.Gln337Glu)
|
|
|
|
NM_020821.3(VPS13C):c.2856C>T (p.Asp952=)
|
rs749454574
|
|
|
NM_020821.3(VPS13C):c.3709T>G (p.Phe1237Val)
|
|
|
|
NM_020821.3(VPS13C):c.5653A>C (p.Asn1885His)
|
rs757119917
|
|
|
NM_020821.3(VPS13C):c.8988A>G (p.Pro2996=)
|
|
|
|
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
|
|
|
|
NM_020822.3(KCNT1):c.86T>G (p.Phe29Cys)
|
|
|
|
NM_020832.3(ZNF687):c.3525G>A (p.Gly1175=)
|
|
|
|
NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)
|
|
|
|
NM_020922.5(WNK3):c.3665A>C (p.Asp1222Ala)
|
|
|
|
NM_020928.2(ZSWIM6):c.214C>G (p.Gln72Glu)
|
|
|
|
NM_020928.2(ZSWIM6):c.2592C>T (p.His864=)
|
|
|
|
NM_020928.2(ZSWIM6):c.26C>T (p.Pro9Leu)
|
|
|
|
NM_020928.2(ZSWIM6):c.677-4C>G
|
|
|
|
NM_020944.3(GBA2):c.451+1G>A
|
rs769002624
|
|
|
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)
|
rs142416793
|
|
|
NM_020971.3(SPTBN4):c.4032C>T (p.Leu1344=)
|
|
|
|
NM_020971.3(SPTBN4):c.4144C>T (p.Arg1382Trp)
|
|
|
|
NM_020971.3(SPTBN4):c.4960C>T (p.Gln1654Ter)
|
|
|
|
NM_020971.3(SPTBN4):c.5290-16C>A
|
|
|
|
NM_020971.3(SPTBN4):c.6017G>A (p.Arg2006Gln)
|
|
|
|
NM_020975.6(RET):c.*6C>G
|
|
|
|
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)
|
rs1554818362
|
|
|
NM_020975.6(RET):c.1264-55dup
|
rs193922698
|
|
|
NM_020975.6(RET):c.1353G>A (p.Thr451=)
|
rs201568301
|
|
|
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)
|
rs76262710
|
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
|
NM_020975.6(RET):c.1880-2A>G
|
rs193922699
|
|
|
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)
|
rs377767404
|
|
|
NM_020975.6(RET):c.1893C>A (p.Asp631Glu)
|
rs55846256
|
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
|
NM_020975.6(RET):c.2198G>A (p.Gly733Asp)
|
rs1564497340
|
|
|
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)
|
rs78014899
|
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
|
NM_020975.6(RET):c.2711C>G (p.Ser904Cys)
|
rs267607011
|
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
|
NM_020975.6(RET):c.792C>G (p.Asp264Glu)
|
rs1564491360
|
|
|
NM_020975.6(RET):c.960C>T (p.Pro320=)
|
rs756761746
|
|
|
NM_020987.5(ANK3):c.10783A>G (p.Thr3595Ala)
|
rs748256287
|
|
|
NM_020987.5(ANK3):c.2125C>T (p.Arg709Ter)
|
rs1234025820
|
|
|
NM_020987.5(ANK3):c.4575A>G (p.Ser1525=)
|
|
|
|
NM_020988.3(GNAO1):c.594-15C>A
|
rs747946596
|
|
|
NM_021005.4(NR2F2):c.1200A>G (p.Leu400=)
|
|
|
|
NM_021008.4(DEAF1):c.1210G>T (p.Ala404Ser)
|
|
|
|
NM_021008.4(DEAF1):c.527C>A (p.Ser176Tyr)
|
|
|
|
NM_021008.4(DEAF1):c.73G>A (p.Val25Met)
|
|
|
|
NM_021008.4(DEAF1):c.926del (p.Leu309fs)
|
rs1417226023
|
|
|
NM_021023.6(CFHR3):c.106G>T (p.Glu36Ter)
|
|
|
|
NM_021023.6(CFHR3):c.356G>C (p.Gly119Ala)
|
|
|
|
NM_021023.6(CFHR3):c.796+1G>A
|
|
|
|
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)
|
rs781400776
|
|
|
NM_021023.6(CFHR3):c.841_842del (p.Lys281fs)
|
|
|
|
NM_021076.4(NEFH):c.1379A>G (p.Gln460Arg)
|
|
|
|
NM_021076.4(NEFH):c.1462G>C (p.Gly488Arg)
|
|
|
|
NM_021076.4(NEFH):c.41dup (p.Phe15fs)
|
|
|
|
NM_021076.4(NEFH):c.459G>T (p.Met153Ile)
|
|
|
|
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)
|
rs749980819
|
|
|
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly)
|
rs58593315
|
|
|
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
|
|
|
|
NM_021098.3(CACNA1H):c.280C>G (p.Leu94Val)
|
|
|
|
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys)
|
|
|
|
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser)
|
rs767633946
|
|
|
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys)
|
rs750143885
|
|
|
NM_021098.3(CACNA1H):c.770G>A (p.Arg257Gln)
|
|
|
|
NM_021116.4(ADCY1):c.1234C>A (p.Arg412Ser)
|
|
|
|
NM_021120.4(DLG3):c.351T>C (p.Tyr117=)
|
|
|
|
NM_021120.4(DLG3):c.82C>A (p.Pro28Thr)
|
|
|
|
NM_021120.4(DLG3):c.841-10C>T
|
|
|
|
NM_021120.4(DLG3):c.992C>T (p.Thr331Ile)
|
|
|
|
NM_021224.6(ZNF462):c.2496_2498dup (p.Glu832_Asn833insLys)
|
|
|
|
NM_021224.6(ZNF462):c.3798A>T (p.Lys1266Asn)
|
|
|
|
NM_021224.6(ZNF462):c.3803G>A (p.Arg1268Lys)
|
|
|
|
NM_021224.6(ZNF462):c.3859G>A (p.Asp1287Asn)
|
|
|
|
NM_021224.6(ZNF462):c.4733G>A (p.Arg1578Gln)
|
|
|
|
NM_021224.6(ZNF462):c.5313G>C (p.Leu1771Phe)
|
rs2131512078
|
|
|
NM_021224.6(ZNF462):c.6536CTG[2] (p.Ala2181del)
|
|
|
|
NM_021615.5(CHST6):c.1001G>A (p.Arg334His)
|
|
|
|
NM_021615.5(CHST6):c.175C>T (p.Leu59Phe)
|
|
|
|
NM_021615.5(CHST6):c.379C>T (p.Arg127Cys)
|
|
|
|
NM_021615.5(CHST6):c.418C>T (p.Arg140Ter)
|
|
|
|
NM_021615.5(CHST6):c.455T>C (p.Leu152Pro)
|
|
|
|
NM_021615.5(CHST6):c.573dup (p.Ala192fs)
|
|
|
|
NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)
|
|
|
|
NM_021615.5(CHST6):c.815G>A (p.Arg272His)
|
|
|
|
NM_021628.3(ALOXE3):c.1559_1562+3dup
|
rs552323537
|
|
|
NM_021628.3(ALOXE3):c.1563-2A>G
|
|
|
|
NM_021813.4(BACH2):c.2505G>A (p.Gln835=)
|
|
|
|
NM_021814.5(ELOVL5):c.889_890dup (p.Lys298fs)
|
|
|
|
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
|
|
|
|
NM_021815.5(SLC5A7):c.1726G>T (p.Glu576Ter)
|
|
|
|
NM_021830.5(TWNK):c.1954C>T (p.Pro652Ser)
|
rs267602340
|
|
|
NM_021830.5(TWNK):c.2005G>C (p.Gly669Arg)
|
|
|
|
NM_021830.5(TWNK):c.2044C>T (p.Arg682Cys)
|
|
|
|
NM_021830.5(TWNK):c.209C>T (p.Pro70Leu)
|
|
|
|
NM_021830.5(TWNK):c.309C>T (p.Phe103=)
|
|
|
|
NM_021830.5(TWNK):c.581G>A (p.Ser194Asn)
|
|
|
|
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
|
|
|
|
NM_021831.6(AGBL5):c.439C>T (p.Arg147Cys)
|
rs144135243
|
|
|
NM_021870.2(FGG):c.1007T>C (p.Met336Thr)
|
rs121913091
|
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
|
NM_021870.3(FGG):c.1015A>G (p.Ser339Gly)
|
|
|
|
NM_021870.3(FGG):c.1130G>T (p.Gly377Val)
|
|
|
|
NM_021870.3(FGG):c.331A>T (p.Lys111Ter)
|
rs1578812509
|
|
|
NM_021870.3(FGG):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
|
|
|
|
NM_021871.4(FGA):c.341G>A (p.Arg114Lys)
|
|
|
|
NM_021871.4(FGA):c.434T>A (p.Val145Asp)
|
|
|
|
NM_021871.4(FGA):c.448C>T (p.Gln150Ter)
|
rs763715993
|
|
|
NM_021871.4(FGA):c.908G>A (p.Gly303Glu)
|
|
|
|
NM_021913.5(AXL):c.995-6C>T
|
|
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
|
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)
|
rs755938406
|
|
|
NM_021922.3(FANCE):c.339del (p.Leu114fs)
|
|
|
|
NM_021922.3(FANCE):c.71_72insGGG (p.Ala24_Pro25insGly)
|
rs2150885556
|
|
|
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln)
|
rs2150885592
|
|
|
NM_021926.4(ALX4):c.154G>A (p.Ala52Thr)
|
|
|
|
NM_021926.4(ALX4):c.16dup (p.Cys6fs)
|
rs746479735
|
|
|
NM_021927.3(GUF1):c.1351_1352del (p.Glu451fs)
|
rs749030301
|
|
|
NM_021927.3(GUF1):c.1390_1394del (p.Lys465fs)
|
rs770488789
|
|
|
NM_021927.3(GUF1):c.1527_1528insTATCATAATTGATCAAAATAGA (p.Val510delinsTyrHisAsnTer)
|
rs773410288
|
|
|
NM_021927.3(GUF1):c.682_703delinsTCTAAA (p.Leu228fs)
|
|
|
|
NM_021927.3(GUF1):c.922C>T (p.Gln308Ter)
|
|
|
|
NM_021939.4(FKBP10):c.1244A>C (p.Gln415Pro)
|
rs2144064339
|
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
|
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)
|
rs150331292
|
|
|
NM_021942.6(TRAPPC11):c.185A>T (p.Tyr62Phe)
|
rs2111290486
|
|
|
NM_021942.6(TRAPPC11):c.2125_2126insGAC (p.Asp709delinsGlyHis)
|
|
|
|
NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)
|
|
|
|
NM_021942.6(TRAPPC11):c.2825A>G (p.Asp942Gly)
|
rs202094535
|
|
|
NM_021942.6(TRAPPC11):c.439C>T (p.Pro147Ser)
|
rs1219699834
|
|
|
NM_021964.3(ZNF148):c.997T>G (p.Leu333Val)
|
|
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
|
NM_021999.5(ITM2B):c.238G>A (p.Ala80Thr)
|
|
|
|
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
|
NM_022081.6(HPS4):c.1330G>A (p.Glu444Lys)
|
|
|
|
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
|
|
|
|
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter)
|
rs150216540
|
|
|
NM_022081.6(HPS4):c.1713+1G>A
|
rs2146534178
|
|
|
NM_022081.6(HPS4):c.1955+18G>C
|
rs149340443
|
|
|
NM_022081.6(HPS4):c.571G>A (p.Ala191Thr)
|
|
|
|
NM_022081.6(HPS4):c.670-15T>C
|
|
|
|
NM_022081.6(HPS4):c.706+176G>A
|
|
|
|
NM_022081.6(HPS4):c.803+1G>A
|
|
|
|
NM_022081.6(HPS4):c.851A>G (p.His284Arg)
|
|
|
|
NM_022089.4(ATP13A2):c.*207C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter)
|
|
|
|
NM_022089.4(ATP13A2):c.3281del (p.Gly1094fs)
|
|
|
|
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs)
|
rs779637529
|
|
|
NM_022089.4(ATP13A2):c.3535_3536del (p.Leu1179fs)
|
|
|
|
NM_022089.4(ATP13A2):c.3543G>T (p.Ter1181Tyr)
|
|
|
|
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
|
|
|
|
NM_022101.4(STEEP1):c.163del (p.Arg55fs)
|
rs2147360775
|
|
|
NM_022114.4(PRDM16):c.-14C>A
|
rs180925565
|
|
|
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)
|
rs372189819
|
|
|
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)
|
rs371654192
|
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
|
NM_022124.6(CDH23):c.1439T>A (p.Leu480Gln)
|
rs767928788
|
|
|
NM_022124.6(CDH23):c.1888G>C (p.Glu630Gln)
|
rs2132682527
|
|
|
NM_022124.6(CDH23):c.334G>C (p.Gly112Arg)
|
|
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
|
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu)
|
rs767004225
|
|
|
NM_022124.6(CDH23):c.4364T>G (p.Val1455Gly)
|
rs2132844035
|
|
|
NM_022124.6(CDH23):c.437C>T (p.Pro146Leu)
|
rs765103490
|
|
|
NM_022124.6(CDH23):c.4747G>A (p.Gly1583Ser)
|
rs775013186
|
|
|
NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val)
|
rs1839745979
|
|
|
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=)
|
rs542618168
|
|
|
NM_022124.6(CDH23):c.5067+1G>A
|
|
|
|
NM_022124.6(CDH23):c.5237_5238delinsAT (p.Arg1746His)
|
|
|
|
NM_022124.6(CDH23):c.5247G>T (p.Glu1749Asp)
|
|
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
|
NM_022124.6(CDH23):c.5563C>T (p.Pro1855Ser)
|
|
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
|
NM_022124.6(CDH23):c.6656A>T (p.Asp2219Val)
|
|
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
|
NM_022124.6(CDH23):c.7001C>T (p.Thr2334Ile)
|
rs1841467615
|
|
|
NM_022124.6(CDH23):c.739G>A (p.Glu247Lys)
|
|
|
|
NM_022124.6(CDH23):c.8064+1G>A
|
rs1474524543
|
|
|
NM_022124.6(CDH23):c.8177C>T (p.Pro2726Leu)
|
|
|
|
NM_022124.6(CDH23):c.8891T>C (p.Ile2964Thr)
|
|
|
|
NM_022124.6(CDH23):c.9128G>C (p.Arg3043Pro)
|
|
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
|
|
NM_022124.6(CDH23):c.9278+2T>A
|
|
|
|
NM_022124.6(CDH23):c.9721del (p.His3241fs)
|
rs1842006730
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
|
NM_022132.5(MCCC2):c.1052A>G (p.Tyr351Cys)
|
|
|
|
NM_022132.5(MCCC2):c.1072+1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1131_1132del (p.Phe377_Ser378insTer)
|
|
|
|
NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_022132.5(MCCC2):c.314del (p.Gly105fs)
|
|
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
|
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp)
|
rs752866557
|
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
|
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
|
rs757389984
|
|
|
NM_022168.4(IFIH1):c.1988T>G (p.Leu663Ter)
|
rs2105197464
|
|
|
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
|
|
|
|
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
|
|
|
|
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val)
|
rs1169761887
|
|
|
NM_022356.4(P3H1):c.1080+3G>C
|
|
|
|
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
|
|
|
|
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)
|
|
|
|
NM_022356.4(P3H1):c.808+5G>A
|
rs368972030
|
|
|
NM_022369.4(STRA6):c.1037A>C (p.Glu346Ala)
|
|
|
|
NM_022436.3(ABCG5):c.1329C>T (p.Pro443=)
|
|
|
|
NM_022436.3(ABCG5):c.1356G>C (p.Glu452Asp)
|
|
|
|
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)
|
rs72542426
|
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
|
NM_022436.3(ABCG5):c.143+15T>G
|
|
|
|
NM_022436.3(ABCG5):c.1452T>C (p.Ser484=)
|
|
|
|
NM_022436.3(ABCG5):c.1670T>C (p.Ile557Thr)
|
|
|
|
NM_022436.3(ABCG5):c.1758T>C (p.Thr586=)
|
|
|
|
NM_022436.3(ABCG5):c.185A>G (p.Gln62Arg)
|
|
|
|
NM_022436.3(ABCG5):c.1910T>C (p.Leu637Pro)
|
|
|
|
NM_022436.3(ABCG5):c.343G>A (p.Val115Met)
|
|
|
|
NM_022436.3(ABCG5):c.397C>G (p.Leu133Val)
|
|
|
|
NM_022436.3(ABCG5):c.39G>C (p.Met13Ile)
|
|
|
|
NM_022436.3(ABCG5):c.436G>C (p.Glu146Gln)
|
|
|
|
NM_022436.3(ABCG5):c.501+11dup
|
rs200655485
|
|
|
NM_022436.3(ABCG5):c.501+5G>A
|
|
|
|
NM_022436.3(ABCG5):c.619C>G (p.Leu207Val)
|
|
|
|
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)
|
rs770103215
|
|
|
NM_022436.3(ABCG5):c.905-3dup
|
rs142037828
|
|
|
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His)
|
rs142346631
|
|
|
NM_022437.3(ABCG8):c.1114A>T (p.Thr372Ser)
|
|
|
|
NM_022437.3(ABCG8):c.1128-4C>T
|
|
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
|
NM_022437.3(ABCG8):c.1227C>T (p.Asn409=)
|
|
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
|
NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)
|
|
|
|
NM_022437.3(ABCG8):c.1347C>T (p.Ala449=)
|
|
|
|
NM_022437.3(ABCG8):c.1412-8delinsTT
|
|
|
|
NM_022437.3(ABCG8):c.1412-9_1412-8delinsTT
|
|
|
|
NM_022437.3(ABCG8):c.1412-9_1412-8insT
|
rs138296512
|
|
|
NM_022437.3(ABCG8):c.1488+14G>T
|
|
|
|
NM_022437.3(ABCG8):c.165+16G>T
|
|
|
|
NM_022437.3(ABCG8):c.1756+16G>A
|
|
|
|
NM_022437.3(ABCG8):c.1757-15G>A
|
|
|
|
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
|
|
|
|
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala)
|
rs6544718
|
|
|
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
|
|
|
|
NM_022437.3(ABCG8):c.3G>T (p.Met1Ile)
|
|
|
|
NM_022437.3(ABCG8):c.561+18G>T
|
|
|
|
NM_022437.3(ABCG8):c.561+5C>G
|
|
|
|
NM_022437.3(ABCG8):c.562-8G>A
|
|
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
|
NM_022437.3(ABCG8):c.594G>A (p.Arg198=)
|
|
|
|
NM_022437.3(ABCG8):c.635G>A (p.Gly212Glu)
|
|
|
|
NM_022437.3(ABCG8):c.694+16G>A
|
|
|
|
NM_022437.3(ABCG8):c.866G>A (p.Gly289Asp)
|
rs769842021
|
|
|
NM_022437.3(ABCG8):c.918C>T (p.Ala306=)
|
|
|
|
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)
|
rs2149845949
|
|
|
NM_022455.5(NSD1):c.2683A>C (p.Ser895Arg)
|
|
|
|
NM_022455.5(NSD1):c.2947G>A (p.Gly983Ser)
|
rs373280032
|
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
|
NM_022455.5(NSD1):c.6502G>A (p.Gly2168Arg)
|
|
|
|
NM_022455.5(NSD1):c.6625G>C (p.Gly2209Arg)
|
|
|
|
NM_022455.5(NSD1):c.6845C>T (p.Pro2282Leu)
|
|
|
|
NM_022455.5(NSD1):c.6899C>G (p.Ala2300Gly)
|
|
|
|
NM_022455.5(NSD1):c.7870C>A (p.Pro2624Thr)
|
rs1286859534
|
|
|
NM_022463.5(NXN):c.803G>A (p.Arg268Gln)
|
|
|
|
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
|
|
|
|
NM_022464.5(SIL1):c.212dup (p.His71fs)
|
|
|
|
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
|
|
|
|
NM_022489.4(INF2):c.2240-16C>T
|
|
|
|
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
|
rs377340315
|
|
|
NM_022489.4(INF2):c.3698T>C (p.Val1233Ala)
|
|
|
|
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
|
rs753287786
|
|
|
NM_022552.5(DNMT3A):c.448+48C>A
|
|
|
|
NM_022575.4(VPS16):c.737G>A (p.Gly246Glu)
|
|
|
|
NM_022575.4(VPS16):c.775T>C (p.Cys259Arg)
|
|
|
|
NM_022725.4(FANCF):c.-7G>T
|
|
|
|
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)
|
rs753272712
|
|
|
NM_022725.4(FANCF):c.654_655del (p.Gln219fs)
|
|
|
|
NM_022726.4(ELOVL4):c.289-2A>G
|
rs1554162524
|
|
|
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)
|
rs587777598
|
|
|
NM_022765.4(MICAL1):c.2305-3C>T
|
|
|
|
NM_022770.4(GINS3):c.287G>C (p.Trp96Ser)
|
rs1334583313
|
|
|
NM_022772.4(EPS8L2):c.1342-19T>C
|
|
|
|
NM_022834.5(VWA1):c.1275GCGCCC[3] (p.Pro431_Val432insArgPro)
|
|
|
|
NM_022835.3(PLEKHG2):c.1899del (p.Ile635fs)
|
|
|
|
NM_022835.3(PLEKHG2):c.2571_2572del (p.Cys858fs)
|
|
|
|
NM_022835.3(PLEKHG2):c.3326C>T (p.Thr1109Ile)
|
|
|
|
NM_022835.3(PLEKHG2):c.3329C>A (p.Ser1110Ter)
|
|
|
|
NM_022835.3(PLEKHG2):c.4085C>T (p.Ala1362Val)
|
|
|
|
NM_022835.3(PLEKHG2):c.929C>T (p.Ala310Val)
|
|
|
|
NM_022841.7(RFX7):c.2098C>T (p.Pro700Ser)
|
|
|
|
NM_022841.7(RFX7):c.2176A>G (p.Ile726Val)
|
|
|
|
NM_022841.7(RFX7):c.35A>G (p.Gln12Arg)
|
|
|
|
NM_022893.4(BCL11A):c.-13C>T
|
rs1318872521
|
|
|
NM_022893.4(BCL11A):c.1135del (p.Cys379fs)
|
rs2103850075
|
|
|
NM_022893.4(BCL11A):c.1533G>A (p.Val511=)
|
|
|
|
NM_022893.4(BCL11A):c.1595C>G (p.Ala532Gly)
|
|
|
|
NM_022893.4(BCL11A):c.488-1G>A
|
|
|
|
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)
|
rs143697995
|
|
|
NM_022915.5(MRPL44):c.786del (p.Gly263fs)
|
|
|
|
NM_023036.6(DNAI2):c.987+1G>A
|
|
|
|
NM_023110.3(FGFR1):c.-88-3566dup
|
rs1424371425
|
|
|
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg)
|
rs886037634
|
|
|
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
|
|
|
|
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
|
|
|
|
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
|
|
|
|
NM_023110.3(FGFR1):c.2393A>G (p.His798Arg)
|
|
|
|
NM_023110.3(FGFR1):c.421A>G (p.Thr141Ala)
|
rs1315551279
|
|
|
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser)
|
rs121909635
|
|
|
NM_023110.3(FGFR1):c.945A>G (p.Gly315=)
|
|
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
|
NM_024077.5(SECISBP2):c.1156_1159del (p.Glu386fs)
|
|
|
|
NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
|
|
NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly)
|
rs377078447
|
|
|
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs)
|
rs2147463824
|
|
|
NM_024120.5(NDUFAF5):c.519+2T>C
|
|
|
|
NM_024120.5(NDUFAF5):c.519+2T>G
|
rs2147534220
|
|
|
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
|
|
|
|
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)
|
rs1040187200
|
|
|
NM_024120.5(NDUFAF5):c.827G>A (p.Arg276Gln)
|
|
|
|
NM_024120.5(NDUFAF5):c.965G>C (p.Gly322Ala)
|
|
|
|
NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)
|
|
|
|
NM_024301.5(FKRP):c.1353C>T (p.Pro451=)
|
|
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
|
NM_024301.5(FKRP):c.155T>A (p.Leu52Gln)
|
rs2054892463
|
|
|
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
|
|
|
|
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
|
|
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
|
NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)
|
rs915291720
|
|
|
NM_024306.5(FA2H):c.911dup (p.Leu305fs)
|
|
|
|
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
|
|
|
|
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)
|
rs78347057
|
|
|
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)
|
rs397507448
|
|
|
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)
|
rs36007394
|
|
|
NM_024312.5(GNPTAB):c.1723G>A (p.Gly575Arg)
|
|
|
|
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)
|
rs281864982
|
|
|
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)
|
rs143788461
|
|
|
NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met)
|
|
|
|
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
|
|
|
|
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp)
|
rs531738916
|
|
|
NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter)
|
|
|
|
NM_024312.5(GNPTAB):c.229G>C (p.Val77Leu)
|
rs985184620
|
|
|
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del)
|
rs281864952
|
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
|
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs)
|
rs281864999
|
|
|
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=)
|
rs222504
|
|
|
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)
|
rs776312538
|
|
|
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)
|
rs281865007
|
|
|
NM_024312.5(GNPTAB):c.324-2A>G
|
|
|
|
NM_024312.5(GNPTAB):c.3336-1G>C
|
rs397507562
|
|
|
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)
|
rs281865018
|
|
|
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs)
|
rs281864954
|
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
|
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs)
|
rs781689303
|
|
|
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)
|
rs35333334
|
|
|
NM_024312.5(GNPTAB):c.3663del (p.Met1221fs)
|
rs1952778845
|
|
|
NM_024312.5(GNPTAB):c.571+6A>G
|
|
|
|
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)
|
rs281865024
|
|
|
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)
|
rs281864964
|
|
|
NM_024312.5(GNPTAB):c.750_751insA (p.Leu251fs)
|
rs1953320426
|
|
|
NM_024312.5(GNPTAB):c.99del (p.Ala34fs)
|
rs1408113895
|
|
|
NM_024334.3(TMEM43):c.1001-3C>T
|
rs1553603640
|
|
|
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys)
|
rs1559363663
|
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
|
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)
|
rs199943048
|
|
|
NM_024334.3(TMEM43):c.442+19dup
|
rs768508021
|
|
|
NM_024334.3(TMEM43):c.512+19G>T
|
rs114026215
|
|
|
NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter)
|
rs1695063853
|
|
|
NM_024334.3(TMEM43):c.743T>G (p.Leu248Arg)
|
rs774356401
|
|
|
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)
|
rs771028028
|
|
|
NM_024334.3(TMEM43):c.883-15C>G
|
|
|
|
NM_024407.5(NDUFS7):c.125C>G (p.Thr42Ser)
|
|
|
|
NM_024407.5(NDUFS7):c.17-1167C>G
|
rs1568985256
|
|
|
NM_024408.4(NOTCH2):c.1109-14C>T
|
|
|
|
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser)
|
rs782108690
|
|
|
NM_024408.4(NOTCH2):c.3011A>G (p.Asp1004Gly)
|
|
|
|
NM_024408.4(NOTCH2):c.4202A>G (p.Gln1401Arg)
|
rs2101162597
|
|
|
NM_024408.4(NOTCH2):c.4273T>C (p.Cys1425Arg)
|
|
|
|
NM_024408.4(NOTCH2):c.5705A>G (p.Asp1902Gly)
|
|
|
|
NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=)
|
|
|
|
NM_024408.4(NOTCH2):c.7046C>T (p.Pro2349Leu)
|
|
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
|
NM_024422.6(DSC2):c.1238A>T (p.Asn413Ile)
|
|
|
|
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser)
|
rs201480399
|
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.1436G>A (p.Arg479His)
|
rs774641579
|
|
|
NM_024422.6(DSC2):c.1436G>C (p.Arg479Pro)
|
rs774641579
|
|
|
NM_024422.6(DSC2):c.1521G>A (p.Arg507=)
|
|
|
|
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser)
|
rs762973455
|
|
|
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser)
|
rs1986963426
|
|
|
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)
|
rs869025387
|
|
|
NM_024422.6(DSC2):c.2058C>T (p.Gly686=)
|
rs1177700048
|
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
|
NM_024422.6(DSC2):c.2286C>T (p.Gly762=)
|
rs549251334
|
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
|
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)
|
rs61731921
|
|
|
NM_024422.6(DSC2):c.2412C>A (p.His804Gln)
|
rs1986728077
|
|
|
NM_024422.6(DSC2):c.2477G>A (p.Trp826Ter)
|
|
|
|
NM_024422.6(DSC2):c.354+15A>C
|
rs1303672773
|
|
|
NM_024422.6(DSC2):c.369A>G (p.Arg123=)
|
|
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
|
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
|
|
|
|
NM_024422.6(DSC2):c.70-11del
|
rs572309510
|
|
|
NM_024422.6(DSC2):c.70-18dup
|
rs572309510
|
|
|
NM_024422.6(DSC2):c.70-20G>A
|
rs374486794
|
|
|
NM_024422.6(DSC2):c.936C>T (p.Asp312=)
|
rs1431388251
|
|
|
NM_024422.6(DSC2):c.942+16A>T
|
rs111347888
|
|
|
NM_024426.6(WT1):c.402G>A (p.Pro134=)
|
rs777527675
|
|
|
NM_024426.6(WT1):c.514del (p.Gln172fs)
|
rs2133102575
|
|
|
NM_024496.4(IRF2BPL):c.1010G>A (p.Ser337Asn)
|
rs1214159684
|
|
|
NM_024496.4(IRF2BPL):c.923C>T (p.Thr308Met)
|
|
|
|
NM_024513.4(FYCO1):c.3347G>A (p.Arg1116His)
|
|
|
|
NM_024528.4(NKAP):c.143C>T (p.Ser48Phe)
|
|
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
|
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)
|
rs121434263
|
|
|
NM_024529.5(CDC73):c.1418-17C>G
|
rs11583414
|
|
|
NM_024529.5(CDC73):c.1560-4dup
|
rs761016442
|
|
|
NM_024529.5(CDC73):c.480_481del (p.His160fs)
|
rs1572152420
|
|
|
NM_024537.4(CARS2):c.1A>G (p.Met1Val)
|
rs1456556476
|
|
|
NM_024537.4(CARS2):c.354T>C (p.Ile118=)
|
|
|
|
NM_024570.4(RNASEH2B):c.263C>G (p.Ala88Gly)
|
|
|
|
NM_024570.4(RNASEH2B):c.28G>C (p.Gly10Arg)
|
|
|
|
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)
|
rs2137952274
|
|
|
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)
|
|
|
|
NM_024570.4(RNASEH2B):c.816_817del (p.Glu273fs)
|
|
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
|
NM_024575.5(TNFAIP8L2):c.480T>A (p.Tyr160Ter)
|
|
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
|
NM_024577.4(SH3TC2):c.151G>A (p.Asp51Asn)
|
|
|
|
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu)
|
rs2127401458
|
|
|
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993
|
|
|
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile)
|
|
|
|
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)
|
rs1554496609
|
|
|
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
|
|
|
|
NM_024596.5(MCPH1):c.2136+1G>T
|
|
|
|
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)
|
|
|
|
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter)
|
rs2129580766
|
|
|
NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile)
|
|
|
|
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
|
|
|
|
NM_024596.5(MCPH1):c.670+5A>C
|
|
|
|
NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)
|
|
|
|
NM_024637.5(GAL3ST4):c.97C>T (p.Gln33Ter)
|
rs1799085397
|
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
|
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
|
|
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
|
NM_024649.5(BBS1):c.47+8C>T
|
|
|
|
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
|
|
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
|
NM_024665.7(TBL1XR1):c.1251-19T>C
|
|
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
|
NM_024675.4(PALB2):c.-1G>T
|
rs1341292125
|
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
|
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)
|
rs1567221761
|
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
|
NM_024675.4(PALB2):c.108+4A>G
|
rs1555462100
|
|
|
NM_024675.4(PALB2):c.1093A>C (p.Arg365=)
|
rs773001248
|
|
|
NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr)
|
rs1567221558
|
|
|
NM_024675.4(PALB2):c.1137G>A (p.Lys379=)
|
rs1060504712
|
|
|
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)
|
rs869312772
|
|
|
NM_024675.4(PALB2):c.1189A>G (p.Thr397Ala)
|
rs367578415
|
|
|
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)
|
rs1555461386
|
|
|
NM_024675.4(PALB2):c.1238C>G (p.Thr413Arg)
|
rs876660213
|
|
|
NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn)
|
rs1555461357
|
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
|
NM_024675.4(PALB2):c.132T>G (p.Ile44Met)
|
rs756856792
|
|
|
NM_024675.4(PALB2):c.1340C>T (p.Ala447Val)
|
rs1555461334
|
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
|
NM_024675.4(PALB2):c.1433C>T (p.Ser478Phe)
|
rs786203879
|
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
|
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer)
|
rs1966967065
|
|
|
NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile)
|
rs864622291
|
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
|
NM_024675.4(PALB2):c.1669T>C (p.Phe557Leu)
|
rs1326785676
|
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
|
NM_024675.4(PALB2):c.1758T>C (p.Asp586=)
|
rs864622567
|
|
|
NM_024675.4(PALB2):c.1815T>C (p.Ser605=)
|
rs1597091095
|
|
|
NM_024675.4(PALB2):c.1821C>T (p.Leu607=)
|
rs1555460634
|
|
|
NM_024675.4(PALB2):c.1830A>G (p.Thr610=)
|
rs876659484
|
|
|
NM_024675.4(PALB2):c.1857T>C (p.Phe619=)
|
rs1555460623
|
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
|
NM_024675.4(PALB2):c.1920A>T (p.Ser640=)
|
rs375575311
|
|
|
NM_024675.4(PALB2):c.1939C>T (p.His647Tyr)
|
rs1555460583
|
|
|
NM_024675.4(PALB2):c.1940A>T (p.His647Leu)
|
rs1055533509
|
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
|
NM_024675.4(PALB2):c.1988G>A (p.Arg663His)
|
rs1462734899
|
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
|
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu)
|
rs876660397
|
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
|
NM_024675.4(PALB2):c.2065T>G (p.Ser689Ala)
|
rs2142382088
|
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
|
NM_024675.4(PALB2):c.2130G>A (p.Thr710=)
|
rs774049060
|
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
|
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
rs1060502735
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
rs62625278
|
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
rs958566673
|
|
|
NM_024675.4(PALB2):c.2469C>G (p.Leu823=)
|
rs515726087
|
|
|
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)
|
rs863224521
|
|
|
NM_024675.4(PALB2):c.2481A>T (p.Thr827=)
|
rs876658885
|
|
|
NM_024675.4(PALB2):c.2482T>C (p.Cys828Arg)
|
rs876660545
|
|
|
NM_024675.4(PALB2):c.2494C>T (p.His832Tyr)
|
rs901786175
|
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
|
NM_024675.4(PALB2):c.2514+5A>G
|
rs1966855329
|
|
|
NM_024675.4(PALB2):c.2515-3C>G
|
rs957106428
|
|
|
NM_024675.4(PALB2):c.2515-6T>C
|
rs1597088273
|
|
|
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe)
|
rs1060502744
|
|
|
NM_024675.4(PALB2):c.2607C>A (p.Ser869=)
|
rs45542234
|
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
|
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala)
|
rs730881877
|
|
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
rs1567215519
|
|
|
NM_024675.4(PALB2):c.2642G>A (p.Gly881Asp)
|
rs772499138
|
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
|
NM_024675.4(PALB2):c.2715G>A (p.Gln905=)
|
rs1555459937
|
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
|
NM_024675.4(PALB2):c.2732C>T (p.Thr911Ile)
|
rs180177123
|
|
|
NM_024675.4(PALB2):c.2749-5T>C
|
rs1966828330
|
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
|
NM_024675.4(PALB2):c.276T>G (p.Thr92=)
|
rs1555461850
|
|
|
NM_024675.4(PALB2):c.2792T>C (p.Leu931Pro)
|
rs773831304
|
|
|
NM_024675.4(PALB2):c.2832_2834+4del
|
|
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
|
NM_024675.4(PALB2):c.2964A>G (p.Gln988=)
|
rs777244673
|
|
|
NM_024675.4(PALB2):c.2966_2968del (p.Val989del)
|
rs1555459526
|
|
|
NM_024675.4(PALB2):c.2967A>G (p.Val989=)
|
rs1966799199
|
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
|
NM_024675.4(PALB2):c.2994A>G (p.Gly998=)
|
rs2142334227
|
|
|
NM_024675.4(PALB2):c.2996+2T>C
|
rs1966797789
|
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
|
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile)
|
rs876659643
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
|
NM_024675.4(PALB2):c.3041T>C (p.Leu1014Pro)
|
rs876659554
|
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
|
NM_024675.4(PALB2):c.3066G>A (p.Met1022Ile)
|
rs1220966608
|
|
|
NM_024675.4(PALB2):c.3107T>C (p.Val1036Ala)
|
rs1555459357
|
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
|
NM_024675.4(PALB2):c.3141A>G (p.Lys1047=)
|
rs2142299817
|
|
|
NM_024675.4(PALB2):c.3202-8G>A
|
rs367979106
|
|
|
NM_024675.4(PALB2):c.3225T>C (p.Ser1075=)
|
|
|
|
NM_024675.4(PALB2):c.3226C>T (p.His1076Tyr)
|
rs1555458224
|
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
|
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)
|
rs62625271
|
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
|
NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg)
|
rs587781308
|
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3328C>G (p.Leu1110Val)
|
rs878855117
|
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
|
NM_024675.4(PALB2):c.3350+9G>C
|
rs1966504683
|
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
|
NM_024675.4(PALB2):c.337C>G (p.Pro113Ala)
|
rs1352495486
|
|
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
rs876658196
|
|
|
NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys)
|
rs879254033
|
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
|
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)
|
rs745444171
|
|
|
NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs)
|
rs2142251364
|
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
|
NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp)
|
rs878855120
|
|
|
NM_024675.4(PALB2):c.37G>C (p.Glu13Gln)
|
rs373287455
|
|
|
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly)
|
rs730881881
|
|
|
NM_024675.4(PALB2):c.398G>A (p.Ser133Asn)
|
rs864622411
|
|
|
NM_024675.4(PALB2):c.413A>C (p.Glu138Ala)
|
rs1322095182
|
|
|
NM_024675.4(PALB2):c.476A>G (p.Glu159Gly)
|
rs1555461786
|
|
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
|
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
|
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
|
|
|
NM_024675.4(PALB2):c.525A>G (p.Arg175=)
|
rs1555461747
|
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
|
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)
|
rs769647912
|
|
|
NM_024675.4(PALB2):c.631G>C (p.Glu211Gln)
|
|
|
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
rs786203875
|
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
|
NM_024675.4(PALB2):c.679G>A (p.Ala227Thr)
|
rs1555461678
|
|
|
NM_024675.4(PALB2):c.700G>A (p.Asp234Asn)
|
rs868149939
|
|
|
NM_024675.4(PALB2):c.737C>T (p.Thr246Ile)
|
rs1597098443
|
|
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
rs587782658
|
|
|
NM_024675.4(PALB2):c.74A>G (p.Lys25Arg)
|
rs1967111893
|
|
|
NM_024675.4(PALB2):c.755C>T (p.Thr252Ile)
|
rs1967023769
|
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
|
NM_024675.4(PALB2):c.774dup (p.Ser259Ter)
|
|
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
|
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)
|
rs1555461602
|
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
|
NM_024675.4(PALB2):c.871G>A (p.Ala291Thr)
|
rs878855124
|
|
|
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
|
|
|
|
NM_024675.4(PALB2):c.983C>G (p.Ser328Cys)
|
|
|
|
NM_024675.4(PALB2):c.9G>T (p.Glu3Asp)
|
rs786202325
|
|
|
NM_024678.6(NARS2):c.947del (p.Asn316fs)
|
rs755975670
|
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
|
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val)
|
rs11109474
|
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
|
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe)
|
rs1429011304
|
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
|
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter)
|
rs2136091512
|
|
|
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
|
|
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
|
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
|
|
|
|
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
|
|
|
|
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)
|
rs1220869113
|
|
|
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
|
|
|
|
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
|
|
|
|
NM_024747.6(HPS6):c.2229_2230del (p.Ala745fs)
|
|
|
|
NM_024747.6(HPS6):c.229_232del (p.Ser77fs)
|
rs2136333814
|
|
|
NM_024747.6(HPS6):c.368del (p.Gly123fs)
|
|
|
|
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs)
|
rs752399257
|
|
|
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter)
|
rs2136334244
|
|
|
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile)
|
rs281865109
|
|
|
NM_024747.6(HPS6):c.938G>T (p.Gly313Val)
|
|
|
|
NM_024757.5(EHMT1):c.1015G>C (p.Val339Leu)
|
|
|
|
NM_024757.5(EHMT1):c.1099G>C (p.Ala367Pro)
|
|
|
|
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)
|
rs1050977100
|
|
|
NM_024757.5(EHMT1):c.190A>T (p.Ser64Cys)
|
|
|
|
NM_024757.5(EHMT1):c.3082G>T (p.Ala1028Ser)
|
|
|
|
NM_024757.5(EHMT1):c.339C>G (p.Asp113Glu)
|
rs1455743308
|
|
|
NM_024757.5(EHMT1):c.3797C>G (p.Ser1266Trp)
|
|
|
|
NM_024757.5(EHMT1):c.824-2del
|
rs1234654104
|
|
|
NM_024782.3(NHEJ1):c.860C>A (p.Ser287Ter)
|
|
|
|
NM_024795.4(TM4SF20):c.322del (p.Ala108fs)
|
|
|
|
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
|
|
|
|
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
|
|
|
|
NM_024809.5(TCTN2):c.2053del (p.Leu685fs)
|
|
|
|
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)
|
rs201827132
|
|
|
NM_024824.5(ZC3H14):c.1571del (p.Gly524fs)
|
|
|
|
NM_024876.4(COQ8B):c.367+1G>A
|
|
|
|
NM_024884.3(L2HGDH):c.1081del (p.Ala361fs)
|
|
|
|
NM_024884.3(L2HGDH):c.140+2_140+8del
|
|
|
|
NM_024915.4(GRHL2):c.-4A>T
|
|
|
|
NM_024996.7(GFM1):c.1199G>C (p.Arg400Pro)
|
rs139692119
|
|
|
NM_024996.7(GFM1):c.1765-2_1765-1del
|
rs1245712932
|
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
|
NM_024996.7(GFM1):c.961T>C (p.Ser321Pro)
|
|
|
|
NM_025000.4(DCAF17):c.1488_1489del (p.Arg496fs)
|
rs778488574
|
|
|
NM_025000.4(DCAF17):c.322-14_322-11del
|
rs753818890
|
|
|
NM_025000.4(DCAF17):c.499_500insGA (p.Lys167fs)
|
|
|
|
NM_025074.7(FRAS1):c.10648+4A>G
|
|
|
|
NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro)
|
rs1399050730
|
|
|
NM_025074.7(FRAS1):c.10961G>T (p.Arg3654Leu)
|
rs765433709
|
|
|
NM_025074.7(FRAS1):c.1099C>T (p.Arg367Cys)
|
|
|
|
NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln)
|
|
|
|
NM_025074.7(FRAS1):c.11901_11904dup (p.His3969Ter)
|
rs2109911879
|
|
|
NM_025074.7(FRAS1):c.1214C>A (p.Ala405Asp)
|
rs1727402639
|
|
|
NM_025074.7(FRAS1):c.1286C>G (p.Ser429Cys)
|
|
|
|
NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)
|
|
|
|
NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter)
|
|
|
|
NM_025074.7(FRAS1):c.603+4A>T
|
|
|
|
NM_025074.7(FRAS1):c.604-1G>C
|
|
|
|
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)
|
rs756005814
|
|
|
NM_025074.7(FRAS1):c.7258-2A>G
|
|
|
|
NM_025074.7(FRAS1):c.8966A>T (p.Asn2989Ile)
|
rs1267920613
|
|
|
NM_025077.4(TOE1):c.-43C>A
|
rs766584437
|
|
|
NM_025077.4(TOE1):c.-44T>G
|
rs201746729
|
|
|
NM_025083.5(EDC3):c.818C>T (p.Thr273Met)
|
|
|
|
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
|
|
|
|
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser)
|
rs770505786
|
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
|
NM_025099.6(CTC1):c.2831del (p.Pro944fs)
|
rs199473677
|
|
|
NM_025099.6(CTC1):c.2831dup (p.His945fs)
|
rs199473677
|
|
|
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)
|
rs199473674
|
|
|
NM_025099.6(CTC1):c.798_802del (p.Gln268fs)
|
|
|
|
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
|
rs768853291
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
|
NM_025114.4(CEP290):c.2009G>A (p.Gly670Glu)
|
rs2038917373
|
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
|
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)
|
rs587783010
|
|
|
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)
|
rs2137624440
|
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
|
NM_025114.4(CEP290):c.2861A>C (p.Asp954Ala)
|
rs886049882
|
|
|
NM_025114.4(CEP290):c.2992-1G>T
|
|
|
|
NM_025114.4(CEP290):c.2992-2A>T
|
|
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
|
NM_025114.4(CEP290):c.3119T>C (p.Met1040Thr)
|
rs2137369505
|
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
|
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
|
rs2036824785
|
|
|
NM_025114.4(CEP290):c.384_385del (p.Asp128fs)
|
rs1288619268
|
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
|
NM_025114.4(CEP290):c.4716A>C (p.Glu1572Asp)
|
rs780960290
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
|
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys)
|
rs760856790
|
|
|
NM_025114.4(CEP290):c.5226+6T>G
|
|
|
|
NM_025114.4(CEP290):c.5364+14C>T
|
|
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
|
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)
|
rs2137056192
|
|
|
NM_025114.4(CEP290):c.5803del (p.Glu1935fs)
|
|
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
|
NM_025114.4(CEP290):c.593G>T (p.Arg198Ile)
|
|
|
|
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)
|
rs1157238971
|
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
|
NM_025137.4(SPG11):c.1609A>T (p.Ile537Leu)
|
rs2084149306
|
|
|
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
|
|
|
|
NM_025137.4(SPG11):c.1891+1G>T
|
rs532072204
|
|
|
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)
|
rs1303294230
|
|
|
NM_025137.4(SPG11):c.2114A>G (p.Gln705Arg)
|
rs2141038104
|
|
|
NM_025137.4(SPG11):c.2339del (p.Asn780fs)
|
|
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
|
|
NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)
|
rs312262714
|
|
|
NM_025137.4(SPG11):c.4773dup (p.Val1592fs)
|
rs1064795062
|
|
|
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)
|
rs1418873962
|
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
|
NM_025137.4(SPG11):c.6755-1G>A
|
|
|
|
NM_025137.4(SPG11):c.6756G>A (p.Glu2252=)
|
|
|
|
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del)
|
rs1060501169
|
|
|
NM_025137.4(SPG11):c.6999+1G>T
|
|
|
|
NM_025137.4(SPG11):c.7000-3_7000-2insAGG
|
rs312262787
|
|
|
NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
|
|
|
|
NM_025137.4(SPG11):c.7023C>G (p.Tyr2341Ter)
|
|
|
|
NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter)
|
rs371313584
|
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
|
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)
|
|
|
|
NM_025144.4(ALPK1):c.3538+15G>A
|
|
|
|
NM_025152.3(NUBPL):c.423-1G>A
|
rs863224123
|
|
|
NM_025207.5(FLAD1):c.1711C>T (p.Arg571Cys)
|
|
|
|
NM_025215.6(PUS1):c.1270G>A (p.Gly424Arg)
|
|
|
|
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
|
|
|
|
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
|
|
|
|
NM_025216.3(WNT10A):c.499G>C (p.Glu167Gln)
|
|
|
|
NM_025233.7(COASY):c.1068_1069del (p.Cys357fs)
|
|
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
|
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs)
|
rs766482965
|
|
|
NM_025233.7(COASY):c.492del (p.Glu164fs)
|
rs2143196984
|
|
|
NM_025243.4(SLC19A3):c.414A>T (p.Arg138Ser)
|
|
|
|
NM_025257.3(SLC44A4):c.242+14C>T
|
|
|
|
NM_025257.3(SLC44A4):c.700G>T (p.Val234Phe)
|
|
|
|
NM_025265.4(TSEN2):c.1136+4C>T
|
|
|
|
NM_025265.4(TSEN2):c.1311_1317delinsTTTA (p.Glu438_Cys439delinsLeu)
|
|
|
|
NM_025265.4(TSEN2):c.1338+1G>A
|
|
|
|
NM_025265.4(TSEN2):c.958A>T (p.Lys320Ter)
|
|
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
|
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
|
|
|
|
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
|
|
|
|
NM_030578.4(B9D2):c.359G>A (p.Arg120Gln)
|
rs374581827
|
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
|
NM_030624.3(KLHL15):c.1182T>C (p.Tyr394=)
|
|
|
|
NM_030624.3(KLHL15):c.970A>G (p.Ile324Val)
|
|
|
|
NM_030632.3(ASXL3):c.2044C>T (p.Pro682Ser)
|
|
|
|
NM_030632.3(ASXL3):c.2542T>A (p.Tyr848Asn)
|
|
|
|
NM_030632.3(ASXL3):c.3224C>T (p.Ala1075Val)
|
|
|
|
NM_030632.3(ASXL3):c.5252C>G (p.Thr1751Arg)
|
rs753874423
|
|
|
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter)
|
rs2145432318
|
|
|
NM_030653.4(DDX11):c.2372G>A (p.Arg791Gln)
|
|
|
|
NM_030653.4(DDX11):c.792+1G>A
|
|
|
|
NM_030662.4(MAP2K2):c.-16G>A
|
|
|
|
NM_030662.4(MAP2K2):c.1047-6C>A
|
rs774258077
|
|
|
NM_030662.4(MAP2K2):c.1080G>A (p.Leu360=)
|
rs2040885847
|
|
|
NM_030662.4(MAP2K2):c.159del (p.Leu54fs)
|
rs777549760
|
|
|
NM_030662.4(MAP2K2):c.170T>A (p.Phe57Tyr)
|
rs121434497
|
|
|
NM_030662.4(MAP2K2):c.208G>A (p.Asp70Asn)
|
|
|
|
NM_030662.4(MAP2K2):c.225C>T (p.Ile75=)
|
rs561400866
|
|
|
NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)
|
rs200918323
|
|
|
NM_030662.4(MAP2K2):c.303+15G>T
|
rs373530124
|
|
|
NM_030662.4(MAP2K2):c.352G>A (p.Glu118Lys)
|
rs756646033
|
|
|
NM_030662.4(MAP2K2):c.42C>T (p.Ile14=)
|
rs1057522557
|
|
|
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)
|
rs727504382
|
|
|
NM_030662.4(MAP2K2):c.627G>C (p.Lys209Asn)
|
rs1555696933
|
|
|
NM_030662.4(MAP2K2):c.705+11G>A
|
rs202086678
|
|
|
NM_030662.4(MAP2K2):c.705+11G>C
|
rs202086678
|
|
|
NM_030662.4(MAP2K2):c.705+15G>A
|
rs1187456546
|
|
|
NM_030662.4(MAP2K2):c.750C>T (p.Ile250=)
|
rs2040968148
|
|
|
NM_030662.4(MAP2K2):c.806C>T (p.Pro269Leu)
|
rs368064728
|
|
|
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu)
|
rs201726622
|
|
|
NM_030662.4(MAP2K2):c.847G>A (p.Val283Met)
|
rs185999703
|
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
|
NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG
|
rs1064794489
|
|
|
NM_030662.4(MAP2K2):c.919+5G>A
|
rs540315377
|
|
|
NM_030662.4(MAP2K2):c.985-14G>C
|
|
|
|
NM_030662.4(MAP2K2):c.985-19C>A
|
rs987549297
|
|
|
NM_030662.4(MAP2K2):c.985-7_985-5del
|
rs753469223
|
|
|
NM_030665.4(RAI1):c.2602GAG[2] (p.Glu870del)
|
|
|
|
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
|
|
|
|
NM_030665.4(RAI1):c.3701C>T (p.Thr1234Ile)
|
|
|
|
NM_030665.4(RAI1):c.4853G>A (p.Gly1618Glu)
|
|
|
|
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
|
|
|
|
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
|
|
|
|
NM_030773.4(TUBB1):c.1163T>C (p.Met388Thr)
|
|
|
|
NM_030773.4(TUBB1):c.166+14G>C
|
|
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
|
NM_030777.4(SLC2A10):c.1181C>G (p.Ala394Gly)
|
|
|
|
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
|
rs587776600
|
|
|
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs)
|
rs1980007276
|
|
|
NM_030777.4(SLC2A10):c.1466G>A (p.Gly489Asp)
|
|
|
|
NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)
|
|
|
|
NM_030777.4(SLC2A10):c.1529A>G (p.Gln510Arg)
|
|
|
|
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)
|
rs6094438
|
|
|
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser)
|
rs6094438
|
|
|
NM_030777.4(SLC2A10):c.371C>T (p.Ser124Leu)
|
rs774076515
|
|
|
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)
|
rs540023880
|
|
|
NM_030777.4(SLC2A10):c.546C>T (p.Leu182=)
|
|
|
|
NM_030777.4(SLC2A10):c.918C>T (p.Leu306=)
|
rs1979909437
|
|
|
NM_030787.4(CFHR5):c.1331-16A>G
|
|
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_030787.4(CFHR5):c.626G>A (p.Gly209Asp)
|
|
|
|
NM_030805.4(LMAN2L):c.373_374del (p.Leu125fs)
|
rs2153336229
|
|
|
NM_030928.4(CDT1):c.1635G>A (p.Gly545=)
|
|
|
|
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
|
|
|
|
NM_030948.6(PHACTR1):c.497-19C>G
|
|
|
|
NM_030948.6(PHACTR1):c.564G>A (p.Gln188=)
|
|
|
|
NM_030954.4(RNF170):c.595C>T (p.Arg199Cys)
|
rs397514478
|
|
|
NM_030973.4(MED25):c.2T>G (p.Met1Arg)
|
|
|
|
NM_031206.7(LAS1L):c.178T>A (p.Cys60Ser)
|
|
|
|
NM_031229.4(RBCK1):c.582+1G>A
|
rs1017046170
|
|
|
NM_031307.4(PUS3):c.438_442del (p.Asn146fs)
|
|
|
|
NM_031372.4(HNRNPDL):c.166C>T (p.Arg56Trp)
|
|
|
|
NM_031372.4(HNRNPDL):c.241C>G (p.Arg81Gly)
|
|
|
|
NM_031372.4(HNRNPDL):c.328C>T (p.Gln110Ter)
|
|
|
|
NM_031407.7(HUWE1):c.10036-7C>T
|
|
|
|
NM_031407.7(HUWE1):c.10087A>G (p.Ser3363Gly)
|
|
|
|
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
|
|
|
|
NM_031407.7(HUWE1):c.2056G>A (p.Glu686Lys)
|
|
|
|
NM_031407.7(HUWE1):c.2971+19A>T
|
rs2148634889
|
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
|
NM_031407.7(HUWE1):c.4310A>T (p.His1437Leu)
|
|
|
|
NM_031407.7(HUWE1):c.4461+19A>G
|
|
|
|
NM_031407.7(HUWE1):c.5108C>T (p.Thr1703Met)
|
|
|
|
NM_031407.7(HUWE1):c.7597G>A (p.Gly2533Ser)
|
rs2147610748
|
|
|
NM_031407.7(HUWE1):c.8727A>G (p.Glu2909=)
|
|
|
|
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
|
|
|
|
NM_031418.4(ANO3):c.1339A>T (p.Lys447Ter)
|
|
|
|
NM_031418.4(ANO3):c.1448-18C>T
|
|
|
|
NM_031443.4(CCM2):c.153G>T (p.Glu51Asp)
|
|
|
|
NM_031443.4(CCM2):c.609G>A (p.Lys203=)
|
rs1562912528
|
|
|
NM_031443.4(CCM2):c.746-17C>T
|
|
|
|
NM_031443.4(CCM2):c.803+1G>A
|
|
|
|
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)
|
rs752450983
|
|
|
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala)
|
rs752450983
|
|
|
NM_031448.6(C19orf12):c.165G>A (p.Gly55=)
|
rs201194487
|
|
|
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)
|
rs515726204
|
|
|
NM_031448.6(C19orf12):c.267del (p.Phe89fs)
|
|
|
|
NM_031844.3(HNRNPU):c.1765del (p.Gln589fs)
|
|
|
|
NM_031885.5(BBS2):c.-14A>G
|
rs1567588946
|
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
|
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
|
rs1964269329
|
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
|
NM_031885.5(BBS2):c.1447A>G (p.Met483Val)
|
rs748721721
|
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
|
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
|
rs1964134678
|
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
|
NM_031885.5(BBS2):c.947G>A (p.Gly316Asp)
|
|
|
|
NM_031942.5(CDCA7):c.196dup (p.Tyr66fs)
|
|
|
|
NM_031942.5(CDCA7):c.761G>T (p.Arg254Leu)
|
rs200556185
|
|
|
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)
|
rs559473497
|
|
|
NM_032040.5(CCDC8):c.1198G>C (p.Gly400Arg)
|
|
|
|
NM_032040.5(CCDC8):c.1454G>A (p.Arg485His)
|
|
|
|
NM_032040.5(CCDC8):c.1510A>G (p.Thr504Ala)
|
|
|
|
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
|
|
|
|
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
|
|
|
|
NM_032040.5(CCDC8):c.572C>T (p.Ala191Val)
|
|
|
|
NM_032040.5(CCDC8):c.860del (p.Gln287fs)
|
rs778999067
|
|
|
NM_032040.5(CCDC8):c.976del (p.Asp326fs)
|
|
|
|
NM_032043.3(BRIP1):c.-4C>T
|
rs2145866620
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
|
NM_032043.3(BRIP1):c.104G>T (p.Gly35Val)
|
rs876659168
|
|
|
NM_032043.3(BRIP1):c.1149A>G (p.Leu383=)
|
rs1567829755
|
|
|
NM_032043.3(BRIP1):c.121C>G (p.His41Asp)
|
rs770930270
|
|
|
NM_032043.3(BRIP1):c.1277T>G (p.Val426Gly)
|
rs1567829202
|
|
|
NM_032043.3(BRIP1):c.1315C>A (p.Arg439=)
|
rs587780226
|
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
|
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)
|
rs771861055
|
|
|
NM_032043.3(BRIP1):c.1368T>C (p.Leu456=)
|
rs878855138
|
|
|
NM_032043.3(BRIP1):c.1371A>G (p.Val457=)
|
rs935612010
|
|
|
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
|
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val)
|
rs1555605855
|
|
|
NM_032043.3(BRIP1):c.1473+1G>T
|
rs748274524
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
|
NM_032043.3(BRIP1):c.1485T>G (p.Ser495=)
|
rs370658123
|
|
|
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu)
|
rs1555603594
|
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
|
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe)
|
rs1326418771
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
|
NM_032043.3(BRIP1):c.1659A>G (p.Gln553=)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.1661A>G (p.Gln554Arg)
|
rs1567813893
|
|
|
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)
|
rs1555602592
|
|
|
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro)
|
rs1603334713
|
|
|
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
|
NM_032043.3(BRIP1):c.1781T>G (p.Leu594Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)
|
rs1567812636
|
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1840T>G (p.Ser614Ala)
|
|
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1953T>C (p.Ile651=)
|
rs754400631
|
|
|
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
|
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=)
|
rs1060501754
|
|
|
NM_032043.3(BRIP1):c.20A>T (p.Glu7Val)
|
|
|
|
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser)
|
rs876658270
|
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
|
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp)
|
rs1060501745
|
|
|
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr)
|
rs1357919929
|
|
|
NM_032043.3(BRIP1):c.2223G>T (p.Val741=)
|
rs1057522996
|
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
|
NM_032043.3(BRIP1):c.2322C>T (p.Asp774=)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
|
NM_032043.3(BRIP1):c.232G>C (p.Glu78Gln)
|
rs2145830931
|
|
|
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu)
|
rs2144675861
|
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly)
|
rs876660273
|
|
|
NM_032043.3(BRIP1):c.2409C>T (p.His803=)
|
rs762039913
|
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
|
NM_032043.3(BRIP1):c.2433A>G (p.Leu811=)
|
rs751455420
|
|
|
NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2469G>A (p.Arg823=)
|
rs587780239
|
|
|
NM_032043.3(BRIP1):c.2487del (p.Gly830fs)
|
|
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2493-10dup
|
rs1457869893
|
|
|
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His)
|
rs2061476921
|
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
|
NM_032043.3(BRIP1):c.2573C>T (p.Ser858Phe)
|
rs1064793893
|
|
|
NM_032043.3(BRIP1):c.2576-3T>C
|
rs2144119000
|
|
|
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met)
|
rs1219152456
|
|
|
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)
|
rs4988356
|
|
|
NM_032043.3(BRIP1):c.288A>G (p.Thr96=)
|
rs1278121295
|
|
|
NM_032043.3(BRIP1):c.2907T>C (p.Asn969=)
|
rs1555572999
|
|
|
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)
|
rs201617644
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)
|
rs45466996
|
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
|
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=)
|
rs751823379
|
|
|
NM_032043.3(BRIP1):c.3072G>A (p.Gly1024=)
|
rs778500245
|
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
|
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn)
|
rs786204068
|
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
|
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
|
|
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
|
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val)
|
rs1555572749
|
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
|
NM_032043.3(BRIP1):c.3387T>C (p.Ser1129=)
|
|
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
|
NM_032043.3(BRIP1):c.3402T>G (p.Pro1134=)
|
rs2061308538
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)
|
rs1555572620
|
|
|
NM_032043.3(BRIP1):c.3411_3412inv (p.Asp1138Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
|
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
|
|
NM_032043.3(BRIP1):c.3424A>G (p.Thr1142Ala)
|
rs2061307605
|
|
|
NM_032043.3(BRIP1):c.342A>G (p.Pro114=)
|
rs756764576
|
|
|
NM_032043.3(BRIP1):c.3435A>C (p.Glu1145Asp)
|
rs876660035
|
|
|
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser)
|
rs876659142
|
|
|
NM_032043.3(BRIP1):c.3514G>T (p.Glu1172Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=)
|
rs1057522561
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
|
NM_032043.3(BRIP1):c.3607_3608delinsAT (p.Glu1203Ile)
|
rs587782615
|
|
|
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
|
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys)
|
rs876658860
|
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
|
NM_032043.3(BRIP1):c.508-10G>C
|
rs2078749443
|
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
|
NM_032043.3(BRIP1):c.618G>T (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
|
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val)
|
rs769535320
|
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
|
NM_032043.3(BRIP1):c.768T>C (p.Ile256=)
|
rs1452578169
|
|
|
NM_032043.3(BRIP1):c.786G>A (p.Glu262=)
|
rs876658312
|
|
|
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)
|
rs61754143
|
|
|
NM_032043.3(BRIP1):c.875del (p.Phe292fs)
|
rs2078107930
|
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.969C>G (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)
|
rs771630777
|
|
|
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
|
|
|
|
NM_032119.4(ADGRV1):c.10570C>T (p.Gln3524Ter)
|
|
|
|
NM_032119.4(ADGRV1):c.10686C>A (p.Ser3562Arg)
|
|
|
|
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
|
rs1758488956
|
|
|
NM_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro)
|
|
|
|
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
|
|
|
|
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
|
|
|
|
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=)
|
rs758546069
|
|
|
NM_032119.4(ADGRV1):c.13751AAGGAG[3] (p.Gly4587_Gly4588insGluGly)
|
|
|
|
NM_032119.4(ADGRV1):c.16041dup (p.Thr5348fs)
|
rs2150231769
|
|
|
NM_032119.4(ADGRV1):c.16196+1G>T
|
rs1326895760
|
|
|
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
|
rs1764301206
|
|
|
NM_032119.4(ADGRV1):c.1850_1851del (p.Val617fs)
|
|
|
|
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
|
|
|
|
NM_032119.4(ADGRV1):c.2399G>A (p.Arg800Gln)
|
|
|
|
NM_032119.4(ADGRV1):c.2898+2T>C
|
|
|
|
NM_032119.4(ADGRV1):c.3826G>A (p.Gly1276Ser)
|
|
|
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185
|
|
|
NM_032119.4(ADGRV1):c.558+5G>A
|
|
|
|
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs)
|
rs1554081619
|
|
|
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
|
|
|
|
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
|
|
|
|
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)
|
rs369341309
|
|
|
NM_032119.4(ADGRV1):c.7307T>G (p.Leu2436Arg)
|
|
|
|
NM_032119.4(ADGRV1):c.9202G>T (p.Ala3068Ser)
|
rs972777692
|
|
|
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)
|
rs752074481
|
|
|
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
|
|
|
|
NM_032122.5(DTNBP1):c.811+70G>A
|
|
|
|
NM_032178.3(SLC7A6OS):c.759C>G (p.Tyr253Ter)
|
|
|
|
NM_032188.3(KAT8):c.110C>G (p.Ser37Cys)
|
|
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
|
NM_032193.4(RNASEH2C):c.438_439dup (p.Ala147fs)
|
|
|
|
NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp)
|
rs749473518
|
|
|
NM_032217.5(ANKRD17):c.5328-12dup
|
|
|
|
NM_032217.5(ANKRD17):c.7408+15C>T
|
|
|
|
NM_032237.5(POMK):c.386_387del (p.Leu129fs)
|
rs2130626422
|
|
|
NM_032242.4(PLXNA1):c.2618C>T (p.Thr873Met)
|
|
|
|
NM_032242.4(PLXNA1):c.329G>A (p.Ser110Asn)
|
|
|
|
NM_032271.3(TRAF7):c.56T>C (p.Leu19Pro)
|
|
|
|
NM_032271.3(TRAF7):c.65C>A (p.Pro22Gln)
|
|
|
|
NM_032271.3(TRAF7):c.946C>T (p.Arg316Cys)
|
|
|
|
NM_032305.3(POLR3GL):c.2T>C (p.Met1Thr)
|
|
|
|
NM_032380.5(GFM2):c.2247dup (p.Ser750fs)
|
|
|
|
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)
|
rs766244312
|
|
|
NM_032383.5(HPS3):c.121G>A (p.Val41Met)
|
|
|
|
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)
|
rs753185316
|
|
|
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
|
|
|
|
NM_032383.5(HPS3):c.887G>A (p.Arg296His)
|
|
|
|
NM_032387.5(WNK4):c.3593G>A (p.Arg1198His)
|
|
|
|
NM_032436.4(CHAMP1):c.1474G>A (p.Val492Ile)
|
rs1555379778
|
|
|
NM_032436.4(CHAMP1):c.2012T>C (p.Met671Thr)
|
|
|
|
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)
|
|
|
|
NM_032444.4(SLX4):c.611G>A (p.Arg204His)
|
|
|
|
NM_032482.3(DOT1L):c.2545-4G>A
|
|
|
|
NM_032496.4(ARHGAP9):c.1116+13G>C
|
|
|
|
NM_032520.5(GNPTG):c.277G>A (p.Glu93Lys)
|
|
|
|
NM_032520.5(GNPTG):c.754C>T (p.Leu252Phe)
|
|
|
|
NM_032525.3(TUBB6):c.90C>G (p.Ile30Met)
|
rs1906161383
|
|
|
NM_032539.5(SLITRK2):c.1721G>A (p.Arg574Lys)
|
|
|
|
NM_032545.4(CFC1):c.196_207dup (p.Gly69_Pro70insGluGlyTrpGly)
|
|
|
|
NM_032551.5(KISS1R):c.1028_1041del (p.Arg343fs)
|
|
|
|
NM_032578.4(MYPN):c.1162C>T (p.Pro388Ser)
|
|
|
|
NM_032578.4(MYPN):c.1508C>A (p.Ala503Asp)
|
|
|
|
NM_032578.4(MYPN):c.2189C>G (p.Thr730Arg)
|
rs373040567
|
|
|
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg)
|
rs3814182
|
|
|
NM_032578.4(MYPN):c.2703+17_2703+18delinsCG
|
rs2134205089
|
|
|
NM_032578.4(MYPN):c.3075+5_3075+13del
|
rs864622652
|
|
|
NM_032578.4(MYPN):c.3373G>A (p.Glu1125Lys)
|
|
|
|
NM_032578.4(MYPN):c.3493+15_3493+20del
|
rs11279655
|
|
|
NM_032578.4(MYPN):c.3493+16G>C
|
|
|
|
NM_032581.4(HYCC1):c.-29+2T>G
|
|
|
|
NM_032581.4(HYCC1):c.349C>T (p.Gln117Ter)
|
|
|
|
NM_032581.4(HYCC1):c.639del (p.Cys213fs)
|
|
|
|
NM_032588.4(TRIM63):c.1052-21_1052-20del
|
rs768795582
|
|
|
NM_032588.4(TRIM63):c.170C>G (p.Pro57Arg)
|
|
|
|
NM_032588.4(TRIM63):c.185G>A (p.Arg62Gln)
|
|
|
|
NM_032588.4(TRIM63):c.235C>T (p.Arg79Cys)
|
|
|
|
NM_032588.4(TRIM63):c.332+4G>T
|
|
|
|
NM_032588.4(TRIM63):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_032588.4(TRIM63):c.625C>G (p.Leu209Val)
|
|
|
|
NM_032588.4(TRIM63):c.72T>C (p.Pro24=)
|
|
|
|
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)
|
rs148395034
|
|
|
NM_032588.4(TRIM63):c.866C>T (p.Ala289Val)
|
|
|
|
NM_032588.4(TRIM63):c.951C>T (p.Asp317=)
|
|
|
|
NM_032588.4(TRIM63):c.980-16T>C
|
|
|
|
NM_032601.4(MCEE):c.419dup (p.Lys141fs)
|
rs776473131
|
|
|
NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter)
|
|
|
|
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)
|
|
|
|
NM_032608.7(MYO18B):c.3824T>G (p.Val1275Gly)
|
|
|
|
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter)
|
|
|
|
NM_032620.4(GTPBP3):c.-16C>G
|
|
|
|
NM_032620.4(GTPBP3):c.388+11G>T
|
|
|
|
NM_032620.4(GTPBP3):c.665C>A (p.Ala222Asp)
|
rs373370177
|
|
|
NM_032634.4(PIGO):c.1673C>T (p.Ala558Val)
|
rs544432298
|
|
|
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)
|
rs774508288
|
|
|
NM_032638.5(GATA2):c.852C>T (p.Ser284=)
|
rs1282036381
|
|
|
NM_032656.4(DHX37):c.1150C>G (p.Leu384Val)
|
|
|
|
NM_032730.5(RTN4IP1):c.433G>A (p.Ala145Thr)
|
|
|
|
NM_032737.4(LMNB2):c.151C>T (p.Arg51Cys)
|
|
|
|
NM_032790.4(ORAI1):c.132_137delACCGCC (p.Pro46_Pro47del)
|
|
|
|
NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser)
|
rs1244560316
|
|
|
NM_032790.4(ORAI1):c.614A>T (p.Gln205Leu)
|
|
|
|
NM_032790.4(ORAI1):c.95_131dup (p.Pro46fs)
|
|
|
|
NM_032856.5(WDR73):c.1132del (p.Arg378fs)
|
rs747109506
|
|
|
NM_032861.4(SERAC1):c.-1A>T
|
|
|
|
NM_032888.4(COL27A1):c.1892G>A (p.Gly631Glu)
|
|
|
|
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=)
|
rs1830319943
|
|
|
NM_032888.4(COL27A1):c.2855G>A (p.Gly952Glu)
|
|
|
|
NM_032888.4(COL27A1):c.3178G>C (p.Gly1060Arg)
|
|
|
|
NM_032888.4(COL27A1):c.3394G>A (p.Gly1132Ser)
|
|
|
|
NM_032888.4(COL27A1):c.4351G>C (p.Gly1451Arg)
|
rs761876047
|
|
|
NM_032888.4(COL27A1):c.4765G>C (p.Gly1589Arg)
|
|
|
|
NM_032892.5(FRMD5):c.178A>G (p.Ile60Val)
|
|
|
|
NM_032892.5(FRMD5):c.793-18_793-9del
|
|
|
|
NM_033004.4(NLRP1):c.3503dup (p.His1168fs)
|
|
|
|
NM_033026.6(PCLO):c.1229C>G (p.Pro410Arg)
|
|
|
|
NM_033026.6(PCLO):c.1426CCAGCAAAGCCCCCACCTCAACAGCCTGGC[3] (p.476PAKPPPQQPG[3])
|
rs750616592
|
|
|
NM_033026.6(PCLO):c.1451del (p.Pro484fs)
|
|
|
|
NM_033026.6(PCLO):c.5247A>C (p.Lys1749Asn)
|
rs370974945
|
|
|
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)
|
rs201432429
|
|
|
NM_033026.6(PCLO):c.9481A>G (p.Ile3161Val)
|
|
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
|
NM_033028.5(BBS4):c.1294del (p.Glu432fs)
|
rs912967826
|
|
|
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)
|
rs781691906
|
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
|
NM_033056.4(PCDH15):c.4768A>G (p.Asn1590Asp)
|
rs2132504927
|
|
|
NM_033056.4(PCDH15):c.4777_4801dup (p.Gln1601fs)
|
|
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
|
NM_033056.4(PCDH15):c.4982C>A (p.Ser1661Ter)
|
rs1287970288
|
|
|
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
|
rs918473867
|
|
|
NM_033056.4(PCDH15):c.5253_5266del (p.Pro1752fs)
|
rs2132494091
|
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
|
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)
|
rs1554707637
|
|
|
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)
|
rs551744220
|
|
|
NM_033109.5(PNPT1):c.1441+2T>A
|
|
|
|
NM_033109.5(PNPT1):c.2148+8G>C
|
|
|
|
NM_033118.4(MYLK2):c.1045A>T (p.Ile349Phe)
|
|
|
|
NM_033118.4(MYLK2):c.1048G>A (p.Glu350Lys)
|
|
|
|
NM_033118.4(MYLK2):c.1580C>A (p.Ala527Asp)
|
|
|
|
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys)
|
rs766199082
|
|
|
NM_033118.4(MYLK2):c.435C>T (p.Ala145=)
|
|
|
|
NM_033118.4(MYLK2):c.436T>C (p.Phe146Leu)
|
rs2062247462
|
|
|
NM_033118.4(MYLK2):c.759C>G (p.Cys253Trp)
|
rs773021152
|
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
|
NM_033337.3(CAV3):c.109G>A (p.Val37Ile)
|
|
|
|
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter)
|
rs2124988406
|
|
|
NM_033337.3(CAV3):c.227T>C (p.Leu76Ser)
|
rs755505530
|
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
|
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)
|
rs28936686
|
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
|
NM_033337.3(CAV3):c.400G>C (p.Ala134Pro)
|
|
|
|
NM_033337.3(CAV3):c.72G>A (p.Leu24=)
|
|
|
|
NM_033343.4(LHX4):c.300G>C (p.Gln100His)
|
|
|
|
NM_033343.4(LHX4):c.727_732dup (p.Ser244_Ser245insGluSer)
|
|
|
|
NM_033360.4(KRAS):c.140A>G (p.Asp47Gly)
|
rs1565885006
|
|
|
NM_033360.4(KRAS):c.291-5C>G
|
rs1565884303
|
|
|
NM_033360.4(KRAS):c.400G>A (p.Ala134Thr)
|
rs1565884227
|
|
|
NM_033360.4(KRAS):c.461A>T (p.Asp154Val)
|
|
|
|
NM_033380.3(COL4A5):c.-16C>T
|
|
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
|
NM_033380.3(COL4A5):c.1033-15del
|
rs104886089
|
|
|
NM_033380.3(COL4A5):c.1340-8T>G
|
|
|
|
NM_033380.3(COL4A5):c.1608T>A (p.Gly536=)
|
|
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
|
NM_033380.3(COL4A5):c.1948+8T>C
|
|
|
|
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)
|
rs281874689
|
|
|
NM_033380.3(COL4A5):c.2509+6A>G
|
|
|
|
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs)
|
rs104886368
|
|
|
NM_033380.3(COL4A5):c.2917+17A>G
|
|
|
|
NM_033380.3(COL4A5):c.2917+1G>C
|
rs104886371
|
|
|
NM_033380.3(COL4A5):c.3017-2A>G
|
|
|
|
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
|
|
|
|
NM_033380.3(COL4A5):c.3454+5G>T
|
|
|
|
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
|
|
|
|
NM_033380.3(COL4A5):c.3604+19T>A
|
|
|
|
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys)
|
rs1327176357
|
|
|
NM_033380.3(COL4A5):c.4092T>C (p.Pro1364=)
|
|
|
|
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
|
|
|
|
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser)
|
rs2147982351
|
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
|
NM_033380.3(COL4A5):c.465+12A>T
|
|
|
|
NM_033380.3(COL4A5):c.4892G>A (p.Arg1631His)
|
|
|
|
NM_033380.3(COL4A5):c.4995-1G>T
|
rs2148003624
|
|
|
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys)
|
rs281874761
|
|
|
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
|
|
|
|
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu)
|
rs754849522
|
|
|
NM_033453.4(ITPA):c.189+4C>G
|
|
|
|
NM_033453.4(ITPA):c.270G>A (p.Trp90Ter)
|
rs2122346498
|
|
|
NM_033453.4(ITPA):c.401G>A (p.Gly134Asp)
|
rs1029276206
|
|
|
NM_033504.4(TMEM54):c.636_649del (p.Leu212_Ser213insTer)
|
|
|
|
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
|
rs1354160835
|
|
|
NM_033629.6(TREX1):c.633A>G (p.Arg211=)
|
|
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
|
NM_033641.4(COL4A6):c.1118G>A (p.Gly373Glu)
|
rs1234916196
|
|
|
NM_033641.4(COL4A6):c.1232A>G (p.Gln411Arg)
|
|
|
|
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)
|
rs753802842
|
|
|
NM_052845.4(MMAB):c.367del (p.Asp123fs)
|
rs1387128853
|
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
|
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)
|
rs36013132
|
|
|
NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer)
|
|
|
|
NM_052854.4(CREB3L1):c.1109C>T (p.Thr370Ile)
|
rs776460030
|
|
|
NM_052854.4(CREB3L1):c.523G>A (p.Gly175Arg)
|
|
|
|
NM_052867.4(NALCN):c.2917C>T (p.Pro973Ser)
|
|
|
|
NM_052867.4(NALCN):c.3703del (p.Asp1235fs)
|
|
|
|
NM_052867.4(NALCN):c.454C>T (p.Arg152Ter)
|
rs774096141
|
|
|
NM_052867.4(NALCN):c.5087T>C (p.Met1696Thr)
|
|
|
|
NM_052876.4(NACC1):c.1560T>A (p.Gly520=)
|
|
|
|
NM_052989.3(IFT122):c.394A>C (p.Ser132Arg)
|
|
|
|
NM_053025.4(MYLK):c.1005_1007delinsTCT (p.Pro336Leu)
|
|
|
|
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del)
|
rs771815695
|
|
|
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp)
|
|
|
|
NM_053025.4(MYLK):c.1651+8C>T
|
|
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
|
NM_053025.4(MYLK):c.2338G>C (p.Val780Leu)
|
rs2061520061
|
|
|
NM_053025.4(MYLK):c.2462+20G>A
|
rs565230903
|
|
|
NM_053025.4(MYLK):c.2829G>A (p.Arg943=)
|
|
|
|
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile)
|
rs1060502533
|
|
|
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)
|
rs75967604
|
|
|
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)
|
rs368390254
|
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
|
NM_053025.4(MYLK):c.3677C>T (p.Pro1226Leu)
|
|
|
|
NM_053025.4(MYLK):c.3726G>C (p.Gln1242His)
|
rs2059732665
|
|
|
NM_053025.4(MYLK):c.4289-10dup
|
rs41431347
|
|
|
NM_053025.4(MYLK):c.4289-9C>G
|
rs41443051
|
|
|
NM_053025.4(MYLK):c.4644G>A (p.Glu1548=)
|
|
|
|
NM_053025.4(MYLK):c.5368+9_5368+11del
|
rs753392124
|
|
|
NM_053025.4(MYLK):c.5399T>G (p.Val1800Gly)
|
|
|
|
NM_053025.4(MYLK):c.5697G>A (p.Val1899=)
|
rs2107807094
|
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
|
NM_053025.4(MYLK):c.773+16G>T
|
|
|
|
NM_053025.4(MYLK):c.992C>T (p.Thr331Met)
|
rs371825849
|
|
|
NM_053025.4(MYLK):c.999G>T (p.Pro333=)
|
rs13319347
|
|
|
NM_053031.4(MYLK):c.89-2_89del
|
rs749876595
|
|
|
NM_053056.3(CCND1):c.387_392delinsGGAG (p.Asp129fs)
|
|
|
|
NM_054012.4(ASS1):c.1022C>T (p.Ser341Phe)
|
|
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
|
NM_054012.4(ASS1):c.1128-6_1188dup
|
rs1554725677
|
|
|
NM_054012.4(ASS1):c.1165A>C (p.Thr389Pro)
|
|
|
|
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)
|
rs1474017319
|
|
|
NM_054012.4(ASS1):c.1194-19_1197dup
|
|
|
|
NM_054012.4(ASS1):c.140C>T (p.Ala47Val)
|
rs1301161301
|
|
|
NM_054012.4(ASS1):c.319del (p.Gln107fs)
|
rs1564903969
|
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
|
NM_054012.4(ASS1):c.420+1G>T
|
rs1554983719
|
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
|
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)
|
rs1004492719
|
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
|
NM_054012.4(ASS1):c.725C>T (p.Thr242Ile)
|
|
|
|
NM_054012.4(ASS1):c.773+6T>G
|
|
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
|
|
NM_054012.4(ASS1):c.815G>A (p.Arg272His)
|
rs768215008
|
|
|
NM_054012.4(ASS1):c.904A>G (p.Met302Val)
|
rs1846391609
|
|
|
NM_054012.4(ASS1):c.968C>T (p.Thr323Ile)
|
|
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
|
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg)
|
rs1055308437
|
|
|
NM_057176.3(BSND):c.-42_-1dup
|
|
|
|
NM_057176.3(BSND):c.10G>A (p.Glu4Lys)
|
rs121908145
|
|
|
NM_057176.3(BSND):c.23G>A (p.Arg8Gln)
|
|
|
|
NM_057176.3(BSND):c.28G>A (p.Gly10Ser)
|
rs74315287
|
|
|
NM_057176.3(BSND):c.467C>A (p.Ala156Asp)
|
rs1644395855
|
|
|
NM_057176.3(BSND):c.685C>T (p.Gln229Ter)
|
|
|
|
NM_057176.3(BSND):c.723del (p.Phe241fs)
|
|
|
|
NM_057176.3(BSND):c.802C>T (p.Gln268Ter)
|
|
|
|
NM_058004.4(PI4KA):c.1687G>T (p.Glu563Ter)
|
|
|
|
NM_058004.4(PI4KA):c.2977del (p.Leu993fs)
|
|
|
|
NM_058004.4(PI4KA):c.5462-8G>A
|
|
|
|
NM_058172.6(ANTXR2):c.1069G>A (p.Ala357Thr)
|
rs12647691
|
|
|
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro)
|
rs12647691
|
|
|
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)
|
rs312262690
|
|
|
NM_058172.6(ANTXR2):c.1087-1G>A
|
|
|
|
NM_058172.6(ANTXR2):c.1294C>T (p.Arg432Ter)
|
|
|
|
NM_058172.6(ANTXR2):c.1347+6T>C
|
|
|
|
NM_058172.6(ANTXR2):c.1428+1G>A
|
rs2110011671
|
|
|
NM_058172.6(ANTXR2):c.1450C>T (p.Arg484Ter)
|
|
|
|
NM_058172.6(ANTXR2):c.1465T>C (p.Ter489Gln)
|
|
|
|
NM_058172.6(ANTXR2):c.469T>C (p.Ser157Pro)
|
rs2110108311
|
|
|
NM_058172.6(ANTXR2):c.712G>T (p.Val238Phe)
|
rs768405615
|
|
|
NM_058179.4(PSAT1):c.413del (p.Ser138fs)
|
|
|
|
NM_058179.4(PSAT1):c.949G>T (p.Glu317Ter)
|
|
|
|
NM_058216.3(RAD51C):c.-7G>T
|
rs753249247
|
|
|
NM_058216.3(RAD51C):c.1000G>A (p.Glu334Lys)
|
rs1567817431
|
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
|
NM_058216.3(RAD51C):c.1026+6T>A
|
rs2144046795
|
|
|
NM_058216.3(RAD51C):c.1027-2A>G
|
rs587780835
|
|
|
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln)
|
rs1378390389
|
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
|
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=)
|
rs1555593553
|
|
|
NM_058216.3(RAD51C):c.237T>C (p.Ser79=)
|
rs1555593575
|
|
|
NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn)
|
rs145387081
|
|
|
NM_058216.3(RAD51C):c.24T>A (p.Phe8Leu)
|
rs587782698
|
|
|
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys)
|
rs876658197
|
|
|
NM_058216.3(RAD51C):c.319C>T (p.Leu107=)
|
rs752817595
|
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.335G>T (p.Gly112Val)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)
|
rs267606998
|
|
|
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val)
|
rs1555593858
|
|
|
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala)
|
rs2047958982
|
|
|
NM_058216.3(RAD51C):c.396A>C (p.Thr132=)
|
rs766221834
|
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
|
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile)
|
rs769053886
|
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
|
NM_058216.3(RAD51C):c.405-5G>A
|
rs1598459949
|
|
|
NM_058216.3(RAD51C):c.411G>T (p.Gln137His)
|
rs1555594552
|
|
|
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile)
|
rs730881938
|
|
|
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu)
|
rs760436864
|
|
|
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val)
|
rs1555594725
|
|
|
NM_058216.3(RAD51C):c.487A>T (p.Ser163Cys)
|
rs776904180
|
|
|
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg)
|
rs876659719
|
|
|
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser)
|
rs1411454855
|
|
|
NM_058216.3(RAD51C):c.532C>T (p.Gln178Ter)
|
rs1555594861
|
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
|
NM_058216.3(RAD51C):c.572-3C>G
|
rs1567794089
|
|
|
NM_058216.3(RAD51C):c.577C>A (p.Arg193=)
|
rs200293302
|
|
|
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)
|
rs786201909
|
|
|
NM_058216.3(RAD51C):c.706-1G>A
|
rs1555599090
|
|
|
NM_058216.3(RAD51C):c.711A>T (p.Arg237=)
|
|
|
|
NM_058216.3(RAD51C):c.71G>A (p.Arg24Gln)
|
rs777554369
|
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
|
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys)
|
rs28363311
|
|
|
NM_058216.3(RAD51C):c.780G>A (p.Arg260=)
|
rs1460932618
|
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)
|
rs876659683
|
|
|
NM_058216.3(RAD51C):c.900A>G (p.Ala300=)
|
rs776711046
|
|
|
NM_058216.3(RAD51C):c.901T>G (p.Leu301Val)
|
rs2143932190
|
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
|
NM_058216.3(RAD51C):c.959A>G (p.Lys320Arg)
|
rs587780260
|
|
|
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn)
|
rs864622395
|
|
|
NM_058216.3(RAD51C):c.966-1G>A
|
rs876658272
|
|
|
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu)
|
rs1567817392
|
|
|
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)
|
rs397514662
|
|
|
NM_078470.6(COX15):c.79_90+3delinsGACT
|
|
|
|
NM_078480.3(PUF60):c.464del (p.Ile155fs)
|
rs1816624373
|
|
|
NM_078480.3(PUF60):c.66G>A (p.Ala22=)
|
|
|
|
NM_080424.4(SP110):c.3G>A (p.Met1Ile)
|
|
|
|
NM_080425.4(GNAS):c.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer)
|
|
|
|
NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro)
|
|
|
|
NM_080425.4(GNAS):c.305dup (p.Met102fs)
|
|
|
|
NM_080425.4(GNAS):c.543C>T (p.Val181=)
|
|
|
|
NM_080425.4(GNAS):c.751G>C (p.Gly251Arg)
|
|
|
|
NM_080425.4(GNAS):c.923C>T (p.Pro308Leu)
|
|
|
|
NM_080473.5(GATA5):c.695G>T (p.Arg232Leu)
|
rs753656900
|
|
|
NM_080669.6(SLC46A1):c.1037T>C (p.Met346Thr)
|
rs2142464726
|
|
|
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
|
|
|
|
NM_080680.3(COL11A2):c.2682+5G>A
|
rs1175212667
|
|
|
NM_080680.3(COL11A2):c.5195T>C (p.Val1732Ala)
|
|
|
|
NM_080911.3(UNG):c.*70_*71del
|
rs193922714
|
|
|
NM_080911.3(UNG):c.732G>A (p.Gln244=)
|
rs193922715
|
|
|
NM_080916.3(DGUOK):c.115C>G (p.Arg39Gly)
|
|
|
|
NM_080916.3(DGUOK):c.256-3T>C
|
|
|
|
NM_080916.3(DGUOK):c.591+1G>T
|
|
|
|
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)
|
rs763706988
|
|
|
NM_080916.3(DGUOK):c.834A>T (p.Ter278Tyr)
|
|
|
|
NM_130466.4(UBE3B):c.631-475G>A
|
|
|
|
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu)
|
rs267606729
|
|
|
NM_130797.4(DPP6):c.2252C>T (p.Ala751Val)
|
|
|
|
NM_130797.4(DPP6):c.397G>A (p.Val133Ile)
|
|
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
|
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
|
|
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
|
NM_130837.3(OPA1):c.1916G>T (p.Arg639Leu)
|
|
|
|
NM_130837.3(OPA1):c.1935+17C>T
|
|
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
|
NM_130837.3(OPA1):c.2250C>T (p.Asp750=)
|
|
|
|
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)
|
rs755591067
|
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
|
NM_130837.3(OPA1):c.288A>T (p.Arg96Ser)
|
|
|
|
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
|
|
|
|
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
|
|
|
|
NM_130839.5(UBE3A):c.2198G>A (p.Gly733Asp)
|
rs1595572384
|
|
|
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val)
|
rs2076968651
|
|
|
NM_130849.4(SLC39A4):c.192+5C>T
|
|
|
|
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)
|
rs373908553
|
|
|
NM_133259.4(LRPPRC):c.134C>G (p.Ala45Gly)
|
rs2103796814
|
|
|
NM_133259.4(LRPPRC):c.1369+2T>A
|
|
|
|
NM_133259.4(LRPPRC):c.149+1G>T
|
|
|
|
NM_133259.4(LRPPRC):c.1627A>G (p.Ser543Gly)
|
|
|
|
NM_133259.4(LRPPRC):c.1649+4A>C
|
|
|
|
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
|
|
|
|
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs)
|
rs2105077465
|
|
|
NM_133259.4(LRPPRC):c.2629+18A>G
|
rs572783698
|
|
|
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)
|
rs1463658772
|
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
|
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter)
|
rs1558936154
|
|
|
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter)
|
rs863224052
|
|
|
NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser)
|
rs200686732
|
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
|
NM_133379.5(TTN):c.12673G>C (p.Asp4225His)
|
|
|
|
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly)
|
|
|
|
NM_133433.4(NIPBL):c.5489C>T (p.Ala1830Val)
|
|
|
|
NM_133433.4(NIPBL):c.5710-3T>C
|
|
|
|
NM_133433.4(NIPBL):c.5796C>T (p.Asn1932=)
|
|
|
|
NM_133433.4(NIPBL):c.6589+8dup
|
|
|
|
NM_133433.4(NIPBL):c.7003C>T (p.Arg2335Trp)
|
|
|
|
NM_133433.4(NIPBL):c.7063A>G (p.Met2355Val)
|
rs2149742243
|
|
|
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
|
|
|
|
NM_134261.3(RORA):c.1304G>A (p.Trp435Ter)
|
|
|
|
NM_134261.3(RORA):c.196+51339G>A
|
|
|
|
NM_134261.3(RORA):c.196+51343A>G
|
|
|
|
NM_134261.3(RORA):c.57C>A (p.Gly19=)
|
|
|
|
NM_138295.5(PKD1L1):c.3683G>A (p.Ser1228Asn)
|
|
|
|
NM_138295.5(PKD1L1):c.5605C>T (p.Arg1869Cys)
|
|
|
|
NM_138383.3(MTSS2):c.1129-16C>A
|
|
|
|
NM_138383.3(MTSS2):c.2018G>C (p.Ser673Thr)
|
|
|
|
NM_138383.3(MTSS2):c.291-8C>T
|
|
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
|
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
|
|
|
|
NM_138477.4(CDAN1):c.1003C>T (p.Arg335Trp)
|
rs751595854
|
|
|
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
|
|
|
|
NM_138501.6(TECR):c.384-15G>A
|
|
|
|
NM_138576.4(BCL11B):c.123A>G (p.Pro41=)
|
|
|
|
NM_138576.4(BCL11B):c.1602_1628del (p.Asp534_Glu542del)
|
|
|
|
NM_138615.3(DHX30):c.1234C>T (p.Arg412Cys)
|
|
|
|
NM_138615.3(DHX30):c.1334A>G (p.Asn445Ser)
|
rs2107133781
|
|
|
NM_138615.3(DHX30):c.2880T>G (p.Asn960Lys)
|
|
|
|
NM_138615.3(DHX30):c.441_442delinsGA (p.Ser148Thr)
|
|
|
|
NM_138615.3(DHX30):c.521G>A (p.Arg174Gln)
|
|
|
|
NM_138691.3(TMC1):c.1198A>T (p.Thr400Ser)
|
|
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
|
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
|
rs1772559884
|
|
|
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
|
|
|
|
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=)
|
rs1349645712
|
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
|
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
|
|
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
|
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
|
|
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
|
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)
|
rs780182068
|
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
|
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)
|
rs765390756
|
|
|
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)
|
rs1554219429
|
|
|
NM_138694.4(PKHD1):c.11040C>T (p.Ser3680=)
|
rs1772372632
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
|
NM_138694.4(PKHD1):c.1124G>A (p.Arg375Gln)
|
|
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
|
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
|
|
|
|
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC
|
rs1554217929
|
|
|
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)
|
rs140458350
|
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
|
NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys)
|
|
|
|
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)
|
rs1807855713
|
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
|
NM_138694.4(PKHD1):c.1919A>G (p.Lys640Arg)
|
rs1807314191
|
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
|
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
|
rs1806602099
|
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
|
NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)
|
|
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
|
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg)
|
rs1562220663
|
|
|
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala)
|
rs373974753
|
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
|
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro)
|
rs770882723
|
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
|
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs)
|
rs1554204054
|
|
|
NM_138694.4(PKHD1):c.3349A>G (p.Ile1117Val)
|
|
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
|
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs)
|
rs1802132538
|
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
|
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
|
rs2128144732
|
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
|
NM_138694.4(PKHD1):c.5065del (p.Met1689fs)
|
rs1554198072
|
|
|
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=)
|
rs148790132
|
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
|
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
|
|
|
|
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs)
|
rs1562140771
|
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
|
NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)
|
|
|
|
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)
|
rs1810710453
|
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
|
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
|
|
|
|
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs)
|
rs1791763088
|
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
|
NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg)
|
rs794727592
|
|
|
NM_138694.4(PKHD1):c.5953G>A (p.Ala1985Thr)
|
rs2127769211
|
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
|
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)
|
|
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
|
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)
|
rs557437764
|
|
|
NM_138694.4(PKHD1):c.6490+3A>G
|
|
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
|
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
|
|
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
|
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
|
|
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
|
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)
|
rs111809699
|
|
|
NM_138694.4(PKHD1):c.7734-27_7734-26dup
|
rs201176305
|
|
|
NM_138694.4(PKHD1):c.7734-27dup
|
rs201176305
|
|
|
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
|
rs1160054242
|
|
|
NM_138694.4(PKHD1):c.778G>A (p.Glu260Lys)
|
rs1554222386
|
|
|
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
|
|
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
|
NM_138694.4(PKHD1):c.8164A>C (p.Thr2722Pro)
|
rs1268020662
|
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
|
NM_138694.4(PKHD1):c.893_895del (p.Asp298_Ile299delinsVal)
|
|
|
|
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs)
|
rs2150986043
|
|
|
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
|
|
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
|
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs)
|
rs1785246943
|
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
|
NM_138711.6(PPARG):c.-8-28082del
|
|
|
|
NM_138927.4(SON):c.1074G>T (p.Pro358=)
|
|
|
|
NM_138927.4(SON):c.2795A>G (p.His932Arg)
|
|
|
|
NM_138927.4(SON):c.4453A>G (p.Lys1485Glu)
|
|
|
|
NM_138927.4(SON):c.4839A>G (p.Glu1613=)
|
|
|
|
NM_138927.4(SON):c.498G>A (p.Ala166=)
|
|
|
|
NM_138927.4(SON):c.6493C>T (p.Pro2165Ser)
|
|
|
|
NM_138927.4(SON):c.78-9C>T
|
|
|
|
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr)
|
rs375508823
|
|
|
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
|
|
|
|
NM_139027.6(ADAMTS13):c.1769C>T (p.Pro590Leu)
|
|
|
|
NM_139027.6(ADAMTS13):c.2234+17C>A
|
|
|
|
NM_139027.6(ADAMTS13):c.373C>A (p.Arg125=)
|
|
|
|
NM_139027.6(ADAMTS13):c.627C>G (p.Leu209=)
|
|
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
|
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)
|
rs2147322042
|
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
|
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)
|
rs2147324337
|
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
|
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
|
|
|
|
NM_139076.3(ABRAXAS1):c.-5G>C
|
rs1420806723
|
|
|
NM_139076.3(ABRAXAS1):c.-8G>A
|
|
|
|
NM_139076.3(ABRAXAS1):c.-9G>A
|
|
|
|
NM_139076.3(ABRAXAS1):c.100C>A (p.Leu34Ile)
|
rs1723022716
|
|
|
NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala)
|
rs751122263
|
|
|
NM_139076.3(ABRAXAS1):c.1155G>C (p.Met385Ile)
|
rs1553936012
|
|
|
NM_139076.3(ABRAXAS1):c.1180A>C (p.Ile394Leu)
|
rs1560570462
|
|
|
NM_139076.3(ABRAXAS1):c.1187del (p.Lys396fs)
|
|
|
|
NM_139076.3(ABRAXAS1):c.1206A>G (p.Glu402=)
|
rs1553936008
|
|
|
NM_139076.3(ABRAXAS1):c.1214G>A (p.Arg405Gln)
|
rs200281698
|
|
|
NM_139076.3(ABRAXAS1):c.1A>C (p.Met1Leu)
|
rs369467990
|
|
|
NM_139076.3(ABRAXAS1):c.234C>T (p.Gly78=)
|
rs765721350
|
|
|
NM_139076.3(ABRAXAS1):c.250G>A (p.Ala84Thr)
|
rs1404975428
|
|
|
NM_139076.3(ABRAXAS1):c.26_47del (p.Val9fs)
|
rs1553938364
|
|
|
NM_139076.3(ABRAXAS1):c.327C>G (p.Ile109Met)
|
rs924277966
|
|
|
NM_139076.3(ABRAXAS1):c.332C>T (p.Thr111Met)
|
rs1553936765
|
|
|
NM_139076.3(ABRAXAS1):c.33G>T (p.Ser11=)
|
rs368088450
|
|
|
NM_139076.3(ABRAXAS1):c.345G>C (p.Arg115Ser)
|
rs762389463
|
|
|
NM_139076.3(ABRAXAS1):c.359A>T (p.Asn120Ile)
|
rs1553936762
|
|
|
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)
|
rs137876115
|
|
|
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter)
|
rs137876115
|
|
|
NM_139076.3(ABRAXAS1):c.410C>T (p.Pro137Leu)
|
rs1560574581
|
|
|
NM_139076.3(ABRAXAS1):c.414T>G (p.Ser138Arg)
|
rs1722530567
|
|
|
NM_139076.3(ABRAXAS1):c.443G>A (p.Arg148Gln)
|
rs760079258
|
|
|
NM_139076.3(ABRAXAS1):c.530T>C (p.Leu177Pro)
|
|
|
|
NM_139076.3(ABRAXAS1):c.533G>A (p.Gly178Asp)
|
rs773434048
|
|
|
NM_139076.3(ABRAXAS1):c.594C>T (p.His198=)
|
rs144724610
|
|
|
NM_139076.3(ABRAXAS1):c.596+9C>G
|
rs778567938
|
|
|
NM_139076.3(ABRAXAS1):c.643A>T (p.Ile215Leu)
|
rs1578126311
|
|
|
NM_139076.3(ABRAXAS1):c.699G>A (p.Val233=)
|
rs1187186600
|
|
|
NM_139076.3(ABRAXAS1):c.793G>A (p.Ala265Thr)
|
|
|
|
NM_139076.3(ABRAXAS1):c.7G>A (p.Gly3Arg)
|
rs370520589
|
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
|
NM_139076.3(ABRAXAS1):c.7G>T (p.Gly3Trp)
|
rs370520589
|
|
|
NM_139076.3(ABRAXAS1):c.820C>T (p.Pro274Ser)
|
rs1060503252
|
|
|
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del)
|
rs748475674
|
|
|
NM_139076.3(ABRAXAS1):c.88-7T>C
|
|
|
|
NM_139076.3(ABRAXAS1):c.894T>A (p.Val298=)
|
rs1560570842
|
|
|
NM_139076.3(ABRAXAS1):c.952G>C (p.Asp318His)
|
rs775345294
|
|
|
NM_139076.3(ABRAXAS1):c.977T>C (p.Met326Thr)
|
rs1722176448
|
|
|
NM_139276.3(STAT3):c.*123dup
|
|
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
|
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)
|
rs113994136
|
|
|
NM_139276.3(STAT3):c.1229A>G (p.His410Arg)
|
rs2144772044
|
|
|
NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser)
|
rs1567713850
|
|
|
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys)
|
rs193922717
|
|
|
NM_139276.3(STAT3):c.1365+143_1365+146del
|
rs143987966
|
|
|
NM_139276.3(STAT3):c.1365+146dup
|
rs143987966
|
|
|
NM_139276.3(STAT3):c.1366-20A>G
|
rs1567710255
|
|
|
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del)
|
rs113994138
|
|
|
NM_139276.3(STAT3):c.1397A>G (p.Asn466Ser)
|
rs1057521091
|
|
|
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met)
|
rs193922719
|
|
|
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys)
|
rs193922720
|
|
|
NM_139276.3(STAT3):c.1840A>C (p.Ser614Arg)
|
rs886039546
|
|
|
NM_139276.3(STAT3):c.1849G>A (p.Gly617Arg)
|
rs2144691698
|
|
|
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg)
|
rs2081548277
|
|
|
NM_139276.3(STAT3):c.1863C>G (p.Phe621Leu)
|
rs1555563854
|
|
|
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)
|
rs113994139
|
|
|
NM_139276.3(STAT3):c.1919_1920delinsTT (p.Tyr640Phe)
|
rs2081522163
|
|
|
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile)
|
rs770986654
|
|
|
NM_139276.3(STAT3):c.1940_1941delinsTT (p.Asn647Ile)
|
|
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
|
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)
|
rs886039434
|
|
|
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg)
|
rs193922722
|
|
|
NM_139276.3(STAT3):c.2144+46_2144+47del
|
rs1279773038
|
|
|
NM_139276.3(STAT3):c.2144+9C>G
|
|
|
|
NM_139276.3(STAT3):c.735_744del (p.Arg246fs)
|
|
|
|
NM_139315.3(TAF6):c.1629_1632dup (p.Ser545fs)
|
rs1796720731
|
|
|
NM_139315.3(TAF6):c.1767_1770dup (p.Ala591fs)
|
rs2116693457
|
|
|
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile)
|
|
|
|
NM_139319.3(SLC17A8):c.1426-18C>A
|
|
|
|
NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg)
|
|
|
|
NM_144508.5(KNL1):c.5723T>G (p.Leu1908Ter)
|
|
|
|
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
|
rs1399404493
|
|
|
NM_144563.3(RPIA):c.347-1G>A
|
rs1422698928
|
|
|
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)
|
rs760452079
|
|
|
NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)
|
|
|
|
NM_144573.4(NEXN):c.1814del (p.Val605fs)
|
|
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
|
NM_144639.3(UROC1):c.709G>C (p.Glu237Gln)
|
rs150437149
|
|
|
NM_144639.3(UROC1):c.908C>A (p.Ala303Glu)
|
|
|
|
NM_144670.6(A2ML1):c.1021T>A (p.Ser341Thr)
|
rs1277845851
|
|
|
NM_144670.6(A2ML1):c.1022C>A (p.Ser341Ter)
|
rs1943384970
|
|
|
NM_144670.6(A2ML1):c.1248+10G>A
|
|
|
|
NM_144670.6(A2ML1):c.1249-19_1319dup
|
rs1943546023
|
|
|
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer)
|
rs1942804878
|
|
|
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His)
|
rs376035211
|
|
|
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)
|
rs757200771
|
|
|
NM_144670.6(A2ML1):c.1423T>A (p.Tyr475Asn)
|
|
|
|
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys)
|
rs1943556876
|
|
|
NM_144670.6(A2ML1):c.1476+8C>G
|
rs75676135
|
|
|
NM_144670.6(A2ML1):c.1476+8C>T
|
rs75676135
|
|
|
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser)
|
rs1032646451
|
|
|
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu)
|
|
|
|
NM_144670.6(A2ML1):c.1662C>T (p.Val554=)
|
|
|
|
NM_144670.6(A2ML1):c.1684-47_1724dup
|
rs1943731808
|
|
|
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly)
|
rs917780860
|
|
|
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr)
|
rs1943737655
|
|
|
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln)
|
rs200673370
|
|
|
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)
|
rs200673370
|
|
|
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs)
|
rs779516620
|
|
|
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly)
|
rs375392265
|
|
|
NM_144670.6(A2ML1):c.1834-1G>T
|
rs1943786459
|
|
|
NM_144670.6(A2ML1):c.1834-20_1887dup
|
rs1943785430
|
|
|
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu)
|
|
|
|
NM_144670.6(A2ML1):c.1992G>A (p.Ser664=)
|
rs765976469
|
|
|
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met)
|
rs148198269
|
|
|
NM_144670.6(A2ML1):c.2145del (p.Phe715fs)
|
rs759217676
|
|
|
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg)
|
rs2136878186
|
|
|
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr)
|
|
|
|
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu)
|
rs1943905141
|
|
|
NM_144670.6(A2ML1):c.2463+13G>A
|
rs151032368
|
|
|
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile)
|
rs1416944345
|
|
|
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys)
|
|
|
|
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs)
|
rs560609581
|
|
|
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met)
|
rs1944005605
|
|
|
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly)
|
rs199701571
|
|
|
NM_144670.6(A2ML1):c.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer)
|
rs1942828214
|
|
|
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter)
|
rs2136691291
|
|
|
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu)
|
rs2136913749
|
|
|
NM_144670.6(A2ML1):c.3108-11T>C
|
|
|
|
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala)
|
rs565930773
|
|
|
NM_144670.6(A2ML1):c.3264+4C>T
|
|
|
|
NM_144670.6(A2ML1):c.3294T>G (p.Thr1098=)
|
rs764429289
|
|
|
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val)
|
rs751968824
|
|
|
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val)
|
rs79889829
|
|
|
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
|
|
|
|
NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=)
|
|
|
|
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
|
|
|
|
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe)
|
rs768331924
|
|
|
NM_144670.6(A2ML1):c.3447A>G (p.Glu1149=)
|
|
|
|
NM_144670.6(A2ML1):c.3462C>T (p.Asn1154=)
|
|
|
|
NM_144670.6(A2ML1):c.3718-16_3791dup
|
rs1944470043
|
|
|
NM_144670.6(A2ML1):c.3718-6C>T
|
rs1944470448
|
|
|
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg)
|
rs760857113
|
|
|
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
|
|
|
|
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg)
|
rs1341976356
|
|
|
NM_144670.6(A2ML1):c.4061+16G>A
|
rs200962359
|
|
|
NM_144670.6(A2ML1):c.4061+1G>C
|
rs202067416
|
|
|
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser)
|
|
|
|
NM_144670.6(A2ML1):c.409+13T>C
|
|
|
|
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu)
|
rs755052089
|
|
|
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp)
|
rs1942780601
|
|
|
NM_144670.6(A2ML1):c.462+16G>A
|
|
|
|
NM_144670.6(A2ML1):c.462+19A>G
|
|
|
|
NM_144670.6(A2ML1):c.462+2T>C
|
rs201877710
|
|
|
NM_144670.6(A2ML1):c.462+9GGA[2]
|
rs750639846
|
|
|
NM_144670.6(A2ML1):c.479T>C (p.Leu160Pro)
|
rs769954501
|
|
|
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)
|
|
|
|
NM_144670.6(A2ML1):c.540T>C (p.Ile180=)
|
rs377551636
|
|
|
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg)
|
rs11047499
|
|
|
NM_144670.6(A2ML1):c.619G>T (p.Gly207Cys)
|
rs11047499
|
|
|
NM_144670.6(A2ML1):c.63-6del
|
rs1463624612
|
|
|
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu)
|
rs61921916
|
|
|
NM_144670.6(A2ML1):c.888G>A (p.Val296=)
|
|
|
|
NM_144670.6(A2ML1):c.921G>C (p.Ala307=)
|
rs372520121
|
|
|
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser)
|
rs889804273
|
|
|
NM_144687.4(NLRP12):c.1462G>T (p.Gly488Trp)
|
|
|
|
NM_144687.4(NLRP12):c.1884G>T (p.Gln628His)
|
|
|
|
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)
|
rs886054608
|
|
|
NM_144687.4(NLRP12):c.46dup (p.Tyr16fs)
|
rs1599879570
|
|
|
NM_144687.4(NLRP12):c.838C>T (p.Gln280Ter)
|
rs145049569
|
|
|
NM_144772.3(NAXE):c.128C>A (p.Ser43Ter)
|
rs765587923
|
|
|
NM_144772.3(NAXE):c.779del (p.Gly260fs)
|
|
|
|
NM_144773.4(PROKR2):c.1000G>A (p.Val334Met)
|
|
|
|
NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg)
|
rs201023639
|
|
|
NM_144773.4(PROKR2):c.1155A>T (p.Ter385Cys)
|
|
|
|
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)
|
rs141090506
|
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
|
NM_144992.5(VWA3B):c.2810_2813del (p.Val937fs)
|
|
|
|
NM_144997.7(FLCN):c.1252del (p.Leu418fs)
|
rs864622651
|
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
|
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)
|
rs137852929
|
|
|
NM_144997.7(FLCN):c.1432+2T>C
|
rs1567807517
|
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
|
NM_144997.7(FLCN):c.256_269del (p.Ser87fs)
|
rs2145014205
|
|
|
NM_144997.7(FLCN):c.379dup (p.Arg127fs)
|
rs2145010446
|
|
|
NM_144997.7(FLCN):c.619-1G>A
|
rs1131690840
|
|
|
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)
|
rs558699420
|
|
|
NM_144997.7(FLCN):c.780G>A (p.Trp260Ter)
|
rs1131690826
|
|
|
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)
|
rs398124542
|
|
|
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu)
|
rs140290452
|
|
|
NM_145046.5(CALR3):c.493-6A>G
|
rs566199743
|
|
|
NM_145046.5(CALR3):c.58A>G (p.Thr20Ala)
|
|
|
|
NM_145059.3(FCSK):c.1407-1G>C
|
|
|
|
NM_145059.3(FCSK):c.1579C>T (p.Arg527Cys)
|
rs1377077648
|
|
|
NM_145059.3(FCSK):c.2138C>G (p.Ala713Gly)
|
|
|
|
NM_145059.3(FCSK):c.2572G>T (p.Ala858Ser)
|
rs17884050
|
|
|
NM_145199.3(LIPT1):c.368del (p.Lys123fs)
|
|
|
|
NM_145239.3(PRRT2):c.227C>T (p.Ala76Val)
|
|
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
|
NM_145239.3(PRRT2):c.64G>A (p.Gly22Ser)
|
rs1900059601
|
|
|
NM_145239.3(PRRT2):c.739_740delinsG (p.Pro247fs)
|
|
|
|
NM_145239.3(PRRT2):c.740C>G (p.Pro247Arg)
|
|
|
|
NM_145239.3(PRRT2):c.741del (p.Ser248fs)
|
|
|
|
NM_145246.5(FRA10AC1):c.51_52del (p.Cys17fs)
|
|
|
|
NM_145261.4(DNAJC19):c.192A>G (p.Ala64=)
|
rs1473896211
|
|
|
NM_145261.4(DNAJC19):c.210-18A>G
|
|
|
|
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_145262.4(GLYCTK):c.1057del (p.His353fs)
|
rs1700517033
|
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
|
|
|
NM_145331.3(MAP3K7):c.1029T>G (p.Asp343Glu)
|
|
|
|
NM_145886.4(PIDD1):c.1303-13_1303-12insTC
|
|
|
|
NM_145886.4(PIDD1):c.1444C>G (p.Pro482Ala)
|
|
|
|
NM_145886.4(PIDD1):c.202_203del (p.Arg68fs)
|
|
|
|
NM_145886.4(PIDD1):c.2226G>T (p.Arg742Ser)
|
|
|
|
NM_145886.4(PIDD1):c.2289C>T (p.Ser763=)
|
|
|
|
NM_145886.4(PIDD1):c.2474+18C>G
|
|
|
|
NM_145886.4(PIDD1):c.2475-19G>A
|
|
|
|
NM_145886.4(PIDD1):c.71A>G (p.Asp24Gly)
|
|
|
|
NM_147127.5(EVC2):c.1470+6A>G
|
|
|
|
NM_147127.5(EVC2):c.1909C>A (p.Gln637Lys)
|
|
|
|
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794
|
|
|
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
|
|
|
|
NM_147127.5(EVC2):c.2293A>G (p.Lys765Glu)
|
|
|
|
NM_148897.3(SDR9C7):c.888del (p.Pro296_Val297insTer)
|
|
|
|
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
|
|
|
|
NM_152281.3(GORAB):c.1062C>A (p.Asn354Lys)
|
rs2101834808
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
|
NM_152296.5(ATP1A3):c.2648G>A (p.Arg883His)
|
|
|
|
NM_152296.5(ATP1A3):c.358-1G>A
|
|
|
|
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
|
|
|
|
NM_152296.5(ATP1A3):c.820A>T (p.Ile274Phe)
|
|
|
|
NM_152384.3(BBS5):c.522+3A>G
|
rs587777828
|
|
|
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
|
|
|
|
NM_152415.3(VPS37A):c.1113+1G>A
|
|
|
|
NM_152416.4(NDUFAF6):c.233_242dup (p.Glu82fs)
|
rs863223932
|
|
|
NM_152419.3(HGSNAT):c.-115_-101dup
|
rs534597242
|
|
|
NM_152419.3(HGSNAT):c.-47_-38GGGCG[3]
|
rs1466847827
|
|
|
NM_152419.3(HGSNAT):c.-61_-37dup
|
rs1451176677
|
|
|
NM_152419.3(HGSNAT):c.-8_9dup (p.Ala4delinsArgArgAlaTer)
|
rs1215061130
|
|
|
NM_152419.3(HGSNAT):c.1150C>G (p.Arg384Gly)
|
|
|
|
NM_152419.3(HGSNAT):c.118+67_118+90del
|
rs972393144
|
|
|
NM_152419.3(HGSNAT):c.1250+5G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
|
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)
|
rs1804565177
|
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
|
NM_152419.3(HGSNAT):c.1378-1G>A
|
rs1804617510
|
|
|
NM_152419.3(HGSNAT):c.1907G>T (p.Ter636Leu)
|
|
|
|
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=)
|
rs199816365
|
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
|
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)
|
rs1085307880
|
|
|
NM_152419.3(HGSNAT):c.776A>G (p.Tyr259Cys)
|
rs753843717
|
|
|
NM_152419.3(HGSNAT):c.850T>C (p.Trp284Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
|
NM_152424.4(AMER1):c.-1C>A
|
|
|
|
NM_152424.4(AMER1):c.3145C>T (p.Arg1049Ter)
|
rs780779666
|
|
|
NM_152424.4(AMER1):c.332G>C (p.Ser111Thr)
|
|
|
|
NM_152443.3(RDH12):c.189del (p.Ala64fs)
|
|
|
|
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)
|
rs2140145502
|
|
|
NM_152443.3(RDH12):c.667G>T (p.Val223Phe)
|
rs370015375
|
|
|
NM_152443.3(RDH12):c.68+1G>A
|
rs2140138146
|
|
|
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)
|
rs2038232911
|
|
|
NM_152443.3(RDH12):c.770C>T (p.Thr257Met)
|
|
|
|
NM_152443.3(RDH12):c.784del (p.Ala262fs)
|
rs1594867551
|
|
|
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
|
rs367543075
|
|
|
NM_152515.5(CKAP2L):c.1046_1053dup (p.Lys352fs)
|
|
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
|
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
|
|
|
|
NM_152564.5(VPS13B):c.11215+1641A>G
|
|
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
|
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu)
|
rs1810005848
|
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
|
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)
|
rs1060499779
|
|
|
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
|
|
|
|
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
|
|
|
|
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)
|
rs386834088
|
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
|
NM_152564.5(VPS13B):c.4949+3A>G
|
rs1824584392
|
|
|
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)
|
rs1563806122
|
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
|
NM_152564.5(VPS13B):c.5167_5168delinsTC (p.Gln1723Ser)
|
|
|
|
NM_152564.5(VPS13B):c.6455-4dup
|
rs398124337
|
|
|
NM_152564.5(VPS13B):c.6657+3C>T
|
|
|
|
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn)
|
rs780602782
|
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
|
NM_152564.5(VPS13B):c.9127G>A (p.Glu3043Lys)
|
rs757673565
|
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
|
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
|
|
|
|
NM_152564.5(VPS13B):c.9331-2_9331-1del
|
rs764288792
|
|
|
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe)
|
rs199704158
|
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
|
NM_152594.3(SPRED1):c.-12G>C
|
rs371200183
|
|
|
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
|
|
|
|
NM_152594.3(SPRED1):c.1112G>C (p.Cys371Ser)
|
|
|
|
NM_152594.3(SPRED1):c.1117G>C (p.Glu373Gln)
|
|
|
|
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe)
|
rs1888487548
|
|
|
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
|
|
|
|
NM_152594.3(SPRED1):c.1231T>C (p.Ser411Pro)
|
|
|
|
NM_152594.3(SPRED1):c.1281_*4dup (p.His427_Ter445=)
|
rs1888490960
|
|
|
NM_152594.3(SPRED1):c.1299T>C (p.Cys433=)
|
rs2141016779
|
|
|
NM_152594.3(SPRED1):c.1304G>A (p.Cys435Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.189G>C (p.Glu63Asp)
|
rs2140978555
|
|
|
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe)
|
rs1412213561
|
|
|
NM_152594.3(SPRED1):c.502T>G (p.Tyr168Asp)
|
rs1566872960
|
|
|
NM_152594.3(SPRED1):c.582+16A>G
|
rs1895996789
|
|
|
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)
|
rs886051105
|
|
|
NM_152594.3(SPRED1):c.999T>C (p.Ser333=)
|
|
|
|
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
|
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
|
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
|
|
|
|
NM_152618.3(BBS12):c.2104C>T (p.Gln702Ter)
|
|
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
|
NM_152641.4(ARID2):c.2455C>G (p.Gln819Glu)
|
|
|
|
NM_152641.4(ARID2):c.4153G>A (p.Val1385Ile)
|
|
|
|
NM_152641.4(ARID2):c.4213_4214delinsTT (p.Asp1405Phe)
|
|
|
|
NM_152641.4(ARID2):c.4976G>A (p.Gly1659Glu)
|
|
|
|
NM_152703.5(SAMD9L):c.1524A>G (p.Thr508=)
|
rs1248188387
|
|
|
NM_152703.5(SAMD9L):c.1904del (p.Leu635fs)
|
|
|
|
NM_152703.5(SAMD9L):c.2062T>A (p.Tyr688Asn)
|
|
|
|
NM_152703.5(SAMD9L):c.3880A>T (p.Lys1294Ter)
|
|
|
|
NM_152703.5(SAMD9L):c.3909C>A (p.Tyr1303Ter)
|
|
|
|
NM_152722.5(HEPACAM):c.1153C>T (p.Pro385Ser)
|
rs1947132037
|
|
|
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)
|
rs1947184803
|
|
|
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile)
|
rs746134081
|
|
|
NM_152722.5(HEPACAM):c.863G>A (p.Arg288His)
|
|
|
|
NM_152722.5(HEPACAM):c.952T>A (p.Ser318Thr)
|
rs1947137638
|
|
|
NM_152726.3(MICU2):c.786_787del (p.Glu262fs)
|
rs752960720
|
|
|
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)
|
rs763527391
|
|
|
NM_152743.4(BRAT1):c.457C>T (p.Gln153Ter)
|
|
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
|
NM_152753.4(SCUBE3):c.1735C>T (p.Arg579Trp)
|
|
|
|
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
|
|
|
|
NM_152906.7(TANGO2):c.56+122_56+131del
|
rs545147497
|
|
|
NM_153006.3(NAGS):c.1096+6G>A
|
|
|
|
NM_153006.3(NAGS):c.427-218A>C
|
|
|
|
NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)
|
|
|
|
NM_153033.5(KCTD7):c.604del (p.Tyr202fs)
|
|
|
|
NM_153033.5(KCTD7):c.731del (p.Leu244fs)
|
rs2116775575
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
|
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)
|
rs2108007892
|
|
|
NM_153240.5(NPHP3):c.1888-7_1893del
|
rs1553773296
|
|
|
NM_153240.5(NPHP3):c.2394C>G (p.Phe798Leu)
|
|
|
|
NM_153240.5(NPHP3):c.52del (p.Asp18fs)
|
rs2108008280
|
|
|
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
|
|
|
|
NM_153603.4(COG7):c.373del (p.Leu125fs)
|
|
|
|
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
|
rs760822872
|
|
|
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)
|
|
|
|
NM_153676.4(USH1C):c.2457delinsCGCTGAC (p.Glu819delinsAspAlaAsp)
|
|
|
|
NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
|
|
|
|
NM_153676.4(USH1C):c.527C>T (p.Pro176Leu)
|
rs1461558857
|
|
|
NM_153676.4(USH1C):c.96G>A (p.Met32Ile)
|
|
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
|
NM_153704.6(TMEM67):c.-1C>T
|
|
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
|
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
|
|
|
|
NM_153704.6(TMEM67):c.1575+5G>A
|
rs1554555063
|
|
|
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
|
|
|
|
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)
|
rs863225238
|
|
|
NM_153704.6(TMEM67):c.2153_2154del (p.Arg718fs)
|
|
|
|
NM_153704.6(TMEM67):c.2184_2185insCACTGCACTCCAGCCTGGGTGACAGAGCGGGAC (p.Ser728_Cys729insHisCysThrProAlaTrpValThrGluArgAsp)
|
|
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
|
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
|
|
|
|
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)
|
rs762543032
|
|
|
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)
|
rs863225234
|
|
|
NM_153704.6(TMEM67):c.395G>C (p.Gly132Ala)
|
|
|
|
NM_153717.3(EVC):c.1098+12G>C
|
|
|
|
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
|
|
|
|
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
|
rs1729200967
|
|
|
NM_153766.3(KCNJ1):c.197T>A (p.Ile66Asn)
|
|
|
|
NM_153766.3(KCNJ1):c.211G>T (p.Gly71Trp)
|
|
|
|
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)
|
|
|
|
NM_153766.3(KCNJ1):c.575T>G (p.Ile192Ser)
|
|
|
|
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)
|
|
|
|
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)
|
|
|
|
NM_153813.3(ZFPM1):c.1331_1333del (p.Glu444_Pro445delinsAla)
|
rs1912951056
|
|
|
NM_153816.6(SNX14):c.*14G>T
|
|
|
|
NM_153816.6(SNX14):c.-18G>C
|
|
|
|
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)
|
rs146849758
|
|
|
NM_153816.6(SNX14):c.1358T>C (p.Val453Ala)
|
rs1161324670
|
|
|
NM_170606.3(KMT2C):c.11167G>A (p.Ala3723Thr)
|
rs115580901
|
|
|
NM_170606.3(KMT2C):c.11248G>T (p.Ala3750Ser)
|
rs747954521
|
|
|
NM_170606.3(KMT2C):c.11341T>C (p.Leu3781=)
|
|
|
|
NM_170606.3(KMT2C):c.11350A>G (p.Lys3784Glu)
|
|
|
|
NM_170606.3(KMT2C):c.12250A>G (p.Ile4084Val)
|
|
|
|
NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp)
|
rs2091357682
|
|
|
NM_170606.3(KMT2C):c.13598G>A (p.Arg4533Gln)
|
|
|
|
NM_170606.3(KMT2C):c.14343+9A>G
|
|
|
|
NM_170606.3(KMT2C):c.14410A>G (p.Ile4804Val)
|
|
|
|
NM_170606.3(KMT2C):c.1458T>C (p.Asn486=)
|
|
|
|
NM_170606.3(KMT2C):c.2573G>T (p.Trp858Leu)
|
rs111493987
|
|
|
NM_170606.3(KMT2C):c.2578C>T (p.Pro860Ser)
|
rs112515611
|
|
|
NM_170606.3(KMT2C):c.2671C>A (p.Pro891Thr)
|
rs2095262954
|
|
|
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)
|
rs58528565
|
|
|
NM_170606.3(KMT2C):c.3324-19A>C
|
|
|
|
NM_170606.3(KMT2C):c.5580C>T (p.Ser1860=)
|
|
|
|
NM_170606.3(KMT2C):c.56C>G (p.Pro19Arg)
|
|
|
|
NM_170606.3(KMT2C):c.9979G>A (p.Val3327Ile)
|
rs868100053
|
|
|
NM_170665.4(ATP2A2):c.1910G>A (p.Arg637His)
|
|
|
|
NM_170675.5(MEIS2):c.1061G>A (p.Ser354Asn)
|
|
|
|
NM_170682.4(P2RX2):c.1295C>G (p.Ala432Gly)
|
|
|
|
NM_170682.4(P2RX2):c.309+11C>T
|
|
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
|
NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)
|
rs879254162
|
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
|
NM_170707.4(LMNA):c.1381-2A>G
|
rs267607600
|
|
|
NM_170707.4(LMNA):c.1534C>T (p.Leu512=)
|
rs2102895384
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
|
NM_170707.4(LMNA):c.1845_1857del (p.Ala617fs)
|
rs2102901937
|
|
|
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)
|
rs56793579
|
|
|
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
|
|
|
|
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
|
|
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
|
NM_170707.4(LMNA):c.600G>T (p.Met200Ile)
|
|
|
|
NM_170707.4(LMNA):c.639+1G>A
|
rs869125101
|
|
|
NM_170707.4(LMNA):c.72C>T (p.Thr24=)
|
rs1572331957
|
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
|
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)
|
rs886043109
|
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
|
NM_170784.3(MKKS):c.1692T>A (p.Tyr564Ter)
|
rs1284336032
|
|
|
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
|
rs2064904675
|
|
|
NM_170784.3(MKKS):c.885dup (p.Val296fs)
|
|
|
|
NM_171998.4(RAB39B):c.313G>A (p.Glu105Lys)
|
|
|
|
NM_172107.4(KCNQ2):c.1086C>T (p.Tyr362=)
|
|
|
|
NM_172107.4(KCNQ2):c.1704C>G (p.Ile568Met)
|
rs144909985
|
|
|
NM_172107.4(KCNQ2):c.2138C>T (p.Pro713Leu)
|
rs750333438
|
|
|
NM_172107.4(KCNQ2):c.388-4G>T
|
|
|
|
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys)
|
rs1057516096
|
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|
|
NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)
|
rs2123423458
|
|
|
NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser)
|
rs74315449
|
|
|
NM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val)
|
rs2083468521
|
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
|
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)
|
rs864309730
|
|
|
NM_172250.3(MMAA):c.748G>A (p.Glu250Lys)
|
|
|
|
NM_172351.3(CD46):c.1082+2T>G
|
rs1184770295
|
|
|
NM_172351.3(CD46):c.725T>G (p.Phe242Cys)
|
|
|
|
NM_172351.3(CD46):c.943+15T>G
|
|
|
|
NM_172362.3(KCNH1):c.2942C>G (p.Ser981Ter)
|
rs145248227
|
|
|
NM_173076.3(ABCA12):c.1210C>T (p.Arg404Ter)
|
rs1458824013
|
|
|
NM_173076.3(ABCA12):c.1462C>T (p.Leu488=)
|
rs574023538
|
|
|
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro)
|
rs762065937
|
|
|
NM_173076.3(ABCA12):c.3299T>G (p.Met1100Arg)
|
|
|
|
NM_173076.3(ABCA12):c.400G>T (p.Ala134Ser)
|
rs2106060931
|
|
|
NM_173076.3(ABCA12):c.4412A>G (p.His1471Arg)
|
|
|
|
NM_173076.3(ABCA12):c.4989dup (p.Thr1665fs)
|
|
|
|
NM_173076.3(ABCA12):c.5363_5372delinsTAAA (p.Glu1788_Ala1791delinsValAsn)
|
|
|
|
NM_173076.3(ABCA12):c.6781_6782dup (p.Thr2262fs)
|
|
|
|
NM_173348.2(FAM149B1):c.1023G>C (p.Pro341=)
|
|
|
|
NM_173354.5(SIK1):c.1345A>T (p.Arg449Trp)
|
|
|
|
NM_173354.5(SIK1):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_173354.5(SIK1):c.499+10_499+11delinsCC
|
rs2146474030
|
|
|
NM_173354.5(SIK1):c.625-16C>T
|
|
|
|
NM_173477.5(USH1G):c.1022C>A (p.Ala341Glu)
|
rs762822503
|
|
|
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)
|
rs1226851798
|
|
|
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
|
|
|
|
NM_173483.4(CYP4F22):c.1217C>T (p.Ser406Phe)
|
rs147680222
|
|
|
NM_173483.4(CYP4F22):c.1352G>A (p.Arg451His)
|
|
|
|
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)
|
rs1382435790
|
|
|
NM_173483.4(CYP4F22):c.759_760del (p.Ile254fs)
|
|
|
|
NM_173495.3(PTCHD1):c.466G>C (p.Val156Leu)
|
rs199597484
|
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
|
NM_173500.4(TTBK2):c.3273-8C>A
|
|
|
|
NM_173500.4(TTBK2):c.596G>A (p.Arg199Gln)
|
|
|
|
NM_173596.3(SLC39A5):c.1559dup (p.Gly521fs)
|
rs776367522
|
|
|
NM_173602.3(DIP2B):c.2643G>C (p.Val881=)
|
|
|
|
NM_173602.3(DIP2B):c.692C>G (p.Ser231Ter)
|
|
|
|
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
|
|
|
|
NM_173630.4(RTTN):c.398-1G>T
|
|
|
|
NM_173630.4(RTTN):c.5747del (p.Glu1916fs)
|
|
|
|
NM_173653.4(SLC9A9):c.1000+4A>T
|
|
|
|
NM_173653.4(SLC9A9):c.533+19T>G
|
|
|
|
NM_173660.4:c.(?_*2670)_(*14056_?)del
|
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
|
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
|
|
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
|
NM_173660.5(DOK7):c.1501A>C (p.Asn501His)
|
|
|
|
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe)
|
rs771583740
|
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
|
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
|
|
|
|
NM_173660.5(DOK7):c.501C>T (p.Phe167=)
|
rs1374098055
|
|
|
NM_173660.5(DOK7):c.512G>A (p.Gly171Asp)
|
rs1286619522
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
|
NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
|
|
NM_173689.7(CRB2):c.2661_2663delinsTTGCTCGGCGCTTGCTCGGCGCCT (p.Ser888delinsCysSerAlaLeuAlaArgArgLeu)
|
|
|
|
NM_173689.7(CRB2):c.952G>C (p.Gly318Arg)
|
rs759937525
|
|
|
NM_173791.5(PDZD8):c.1362A>G (p.Gln454=)
|
|
|
|
NM_173791.5(PDZD8):c.2786A>G (p.Asn929Ser)
|
|
|
|
NM_173849.3(GSC):c.25G>C (p.Asp9His)
|
|
|
|
NM_173849.3(GSC):c.539A>G (p.Gln180Arg)
|
|
|
|
NM_174878.3(CLRN1):c.151G>C (p.Gly51Arg)
|
rs752143225
|
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
|
NM_174889.5(NDUFAF2):c.130_131del (p.Gln44fs)
|
rs1752321639
|
|
|
NM_174889.5(NDUFAF2):c.282_283del (p.His94fs)
|
rs767565052
|
|
|
NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)
|
|
|
|
NM_174916.3(UBR1):c.1295T>C (p.Ile432Thr)
|
rs1057518231
|
|
|
NM_174916.3(UBR1):c.3492C>G (p.His1164Gln)
|
rs34803922
|
|
|
NM_174934.4(SCN4B):c.282G>A (p.Thr94=)
|
|
|
|
NM_174934.4(SCN4B):c.480C>G (p.Asn160Lys)
|
rs72546675
|
|
|
NM_174934.4(SCN4B):c.589A>G (p.Lys197Glu)
|
rs1230446349
|
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
|
NM_174936.4(PCSK9):c.1133_1134delinsAA (p.Cys378Ter)
|
rs1553137557
|
|
|
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
|
|
|
|
NM_174936.4(PCSK9):c.1212G>C (p.Pro404=)
|
rs777470856
|
|
|
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala)
|
rs555751342
|
|
|
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=)
|
rs886046433
|
|
|
NM_174936.4(PCSK9):c.1354+12G>A
|
|
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
|
NM_174936.4(PCSK9):c.1461_1462del (p.Ser488fs)
|
|
|
|
NM_174936.4(PCSK9):c.1479del (p.Lys494fs)
|
|
|
|
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln)
|
rs370574590
|
|
|
NM_174936.4(PCSK9):c.1503+20GT[25]
|
rs35115360
|
|
|
NM_174936.4(PCSK9):c.1503+20GT[27]
|
rs35115360
|
|
|
NM_174936.4(PCSK9):c.1503+20GT[28]
|
rs35115360
|
|
|
NM_174936.4(PCSK9):c.1504-5_1504-4del
|
rs755817854
|
|
|
NM_174936.4(PCSK9):c.1547G>A (p.Gly516Glu)
|
rs891322948
|
|
|
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
|
|
|
|
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)
|
rs11583680
|
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
|
NM_174936.4(PCSK9):c.173A>G (p.His58Arg)
|
rs1644586889
|
|
|
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
|
|
|
|
NM_174936.4(PCSK9):c.1863+18G>T
|
|
|
|
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=)
|
rs139894975
|
|
|
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
|
|
|
|
NM_174936.4(PCSK9):c.240G>A (p.Val80=)
|
rs2100266566
|
|
|
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)
|
rs771978846
|
|
|
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
|
rs1057519691
|
|
|
NM_174936.4(PCSK9):c.399+10C>T
|
rs112710386
|
|
|
NM_174936.4(PCSK9):c.399+6C>A
|
|
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
|
NM_174936.4(PCSK9):c.45GCT[5] (p.Leu22_Leu23del)
|
rs35574083
|
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|
|
NM_174936.4(PCSK9):c.524-13T>A
|
|
|
|
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
|
|
|
|
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs)
|
rs755197912
|
|
|
NM_174936.4(PCSK9):c.573T>G (p.Ser191Arg)
|
|
|
|
NM_174936.4(PCSK9):c.580C>A (p.Arg194=)
|
rs200027662
|
|
|
NM_174936.4(PCSK9):c.657G>A (p.Gln219=)
|
rs1431852989
|
|
|
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
|
|
|
|
NM_174936.4(PCSK9):c.800-17G>T
|
rs200551844
|
|
|
NM_174936.4(PCSK9):c.85del (p.Arg29fs)
|
rs1553135406
|
|
|
NM_175607.3(CNTN4):c.514G>A (p.Val172Ile)
|
|
|
|
NM_175914.5(HNF4A):c.111G>T (p.Leu37=)
|
rs2063496608
|
|
|
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
|
rs193922470
|
|
|
NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile)
|
rs145314165
|
|
|
NM_175914.5(HNF4A):c.1309C>A (p.Pro437Thr)
|
rs2063853373
|
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
|
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)
|
rs193922471
|
|
|
NM_175914.5(HNF4A):c.319+5G>C
|
|
|
|
NM_175914.5(HNF4A):c.319G>C (p.Ala107Pro)
|
rs2063517684
|
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
|
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)
|
rs1280663753
|
|
|
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro)
|
rs193922474
|
|
|
NM_175914.5(HNF4A):c.575_582+10del
|
rs193922475
|
|
|
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs)
|
rs193922476
|
|
|
NM_175914.5(HNF4A):c.685_686insCCCTCGGCACTGCCCACATTG (p.Ile228_Val229insAlaLeuGlyThrAlaHisIle)
|
|
|
|
NM_175914.5(HNF4A):c.794C>A (p.Ala265Asp)
|
rs746602886
|
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
|
NM_175914.5(HNF4A):c.881A>G (p.Gln294Arg)
|
|
|
|
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys)
|
rs193922480
|
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
|
NM_175914.5(HNF4A):c.956T>C (p.Leu319Pro)
|
rs2063786151
|
|
|
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
|
|
|
|
NM_177402.5(SYT2):c.1103A>C (p.Asn368Thr)
|
rs2149063983
|
|
|
NM_177402.5(SYT2):c.751G>A (p.Gly251Ser)
|
|
|
|
NM_177402.5(SYT2):c.787G>A (p.Gly263Arg)
|
|
|
|
NM_177402.5(SYT2):c.827C>T (p.Thr276Ile)
|
|
|
|
NM_177438.3(DICER1):c.4049del (p.Lys1350fs)
|
rs1891064547
|
|
|
NM_177924.5(ASAH1):c.1016T>A (p.Met339Lys)
|
|
|
|
NM_177924.5(ASAH1):c.644A>T (p.Lys215Ile)
|
|
|
|
NM_178138.6(LHX3):c.598G>C (p.Val200Leu)
|
|
|
|
NM_178138.6(LHX3):c.803C>T (p.Pro268Leu)
|
|
|
|
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter)
|
rs762826555
|
|
|
NM_178554.6(KY):c.481C>T (p.Gln161Ter)
|
|
|
|
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)
|
rs201017122
|
|
|
NM_181303.2(NLGN3):c.1429C>G (p.Leu477Val)
|
rs2147908332
|
|
|
NM_181303.2(NLGN3):c.2194C>T (p.Arg732Cys)
|
|
|
|
NM_181303.2(NLGN3):c.237C>G (p.Ile79Met)
|
|
|
|
NM_181303.2(NLGN3):c.38G>A (p.Ser13Asn)
|
rs2092376058
|
|
|
NM_181332.3(NLGN4X):c.70A>G (p.Asn24Asp)
|
|
|
|
NM_181458.4(PAX3):c.142G>A (p.Gly48Ser)
|
|
|
|
NM_181458.4(PAX3):c.215T>C (p.Ile72Thr)
|
rs1695340242
|
|
|
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)
|
rs1555226581
|
|
|
NM_181486.4(TBX5):c.529del (p.His177fs)
|
|
|
|
NM_181486.4(TBX5):c.985_987delinsAC (p.Glu329fs)
|
rs1555223294
|
|
|
NM_181486.4(TBX5):c.985_987delinsAG (p.Glu329fs)
|
rs1555223294
|
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
|
NM_181507.2(HPS5):c.1533G>A (p.Val511=)
|
|
|
|
NM_181507.2(HPS5):c.2561+6T>C
|
|
|
|
NM_181507.2(HPS5):c.2717+6A>G
|
|
|
|
NM_181507.2(HPS5):c.2837+1G>A
|
|
|
|
NM_181507.2(HPS5):c.323G>A (p.Arg108His)
|
rs201664625
|
|
|
NM_181507.2(HPS5):c.3346A>G (p.Met1116Val)
|
|
|
|
NM_181507.2(HPS5):c.478-2A>G
|
|
|
|
NM_181507.2(HPS5):c.739dup (p.Glu247fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1073G>A (p.Arg358Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.502+1G>C
|
rs773461483
|
|
|
NM_181552.4(CUX1):c.1632C>G (p.Ser544Arg)
|
|
|
|
NM_181552.4(CUX1):c.2753C>A (p.Pro918His)
|
|
|
|
NM_181552.4(CUX1):c.2907+5G>A
|
|
|
|
NM_181552.4(CUX1):c.4224G>T (p.Ala1408=)
|
|
|
|
NM_181552.4(CUX1):c.97C>T (p.Arg33Trp)
|
|
|
|
NM_181783.4(TMTC3):c.2233dup (p.Ile745fs)
|
|
|
|
NM_182641.4(BPTF):c.2481G>A (p.Leu827=)
|
|
|
|
NM_182641.4(BPTF):c.342_356del (p.Thr115_Arg119del)
|
|
|
|
NM_182641.4(BPTF):c.4873G>A (p.Val1625Ile)
|
|
|
|
NM_182641.4(BPTF):c.5390C>T (p.Ala1797Val)
|
|
|
|
NM_182710.3(KAT5):c.930G>C (p.Gln310His)
|
|
|
|
NM_182760.4(SUMF1):c.*10_*11delinsGT
|
rs71623163
|
|
|
NM_182760.4(SUMF1):c.1029G>T (p.Arg343Ser)
|
|
|
|
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
|
rs1421066733
|
|
|
NM_182760.4(SUMF1):c.251G>C (p.Arg84Pro)
|
rs762094231
|
|
|
NM_182760.4(SUMF1):c.270+1del
|
rs2079966206
|
|
|
NM_182760.4(SUMF1):c.279del (p.Ile94fs)
|
rs2125134167
|
|
|
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
|
|
|
|
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)
|
rs748337915
|
|
|
NM_182760.4(SUMF1):c.955-3_970del
|
|
|
|
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
|
|
|
|
NM_182914.3(SYNE2):c.12537A>C (p.Gln4179His)
|
|
|
|
NM_182914.3(SYNE2):c.1346A>T (p.Asn449Ile)
|
|
|
|
NM_182914.3(SYNE2):c.2002-18T>G
|
|
|
|
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
|
|
|
|
NM_182914.3(SYNE2):c.6135_6136delinsGA (p.Ser2045_Phe2046delinsArgIle)
|
|
|
|
NM_182914.3(SYNE2):c.7495C>G (p.Gln2499Glu)
|
|
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
|
NM_182922.4(HEATR3):c.1523A>G (p.His508Arg)
|
|
|
|
NM_182931.3(KMT2E):c.1068_1074del (p.Tyr358fs)
|
|
|
|
NM_182931.3(KMT2E):c.1388_1389del (p.Lys463fs)
|
|
|
|
NM_182931.3(KMT2E):c.3917dup (p.Pro1307fs)
|
rs1799183455
|
|
|
NM_182931.3(KMT2E):c.4309A>G (p.Thr1437Ala)
|
|
|
|
NM_182943.3(PLOD2):c.1005+15A>G
|
|
|
|
NM_182943.3(PLOD2):c.2122-2A>G
|
|
|
|
NM_182943.3(PLOD2):c.2122-8T>A
|
|
|
|
NM_182943.3(PLOD2):c.2170C>T (p.Arg724Ter)
|
|
|
|
NM_182943.3(PLOD2):c.437C>G (p.Pro146Arg)
|
rs766267153
|
|
|
NM_182943.3(PLOD2):c.8dup (p.Cys4fs)
|
rs1353563172
|
|
|
NM_182961.4(SYNE1):c.10883A>G (p.Gln3628Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12226-4C>T
|
|
|
|
NM_182961.4(SYNE1):c.1343A>G (p.Gln448Arg)
|
|
|
|
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile)
|
rs2153972296
|
|
|
NM_182961.4(SYNE1):c.16657A>G (p.Thr5553Ala)
|
|
|
|
NM_182961.4(SYNE1):c.17545A>G (p.Thr5849Ala)
|
rs2095126393
|
|
|
NM_182961.4(SYNE1):c.18435C>A (p.Val6145=)
|
|
|
|
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
|
|
|
|
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)
|
rs2086610889
|
|
|
NM_182961.4(SYNE1):c.21009G>A (p.Trp7003Ter)
|
|
|
|
NM_182961.4(SYNE1):c.225G>C (p.Leu75=)
|
|
|
|
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
|
|
|
|
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
|
|
|
|
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
|
|
|
|
NM_182961.4(SYNE1):c.310-13C>T
|
|
|
|
NM_182961.4(SYNE1):c.4570G>A (p.Ala1524Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5246_5256del (p.Leu1749fs)
|
|
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
|
NM_182961.4(SYNE1):c.9147-15_9147-13delinsTCA
|
|
|
|
NM_182961.4(SYNE1):c.943G>A (p.Glu315Lys)
|
|
|
|
NM_182978.4(GNAL):c.193C>T (p.Arg65Trp)
|
|
|
|
NM_182978.4(GNAL):c.249C>G (p.Ala83=)
|
|
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
|
NM_183050.4(BCKDHB):c.1165A>C (p.Met389Leu)
|
|
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
|
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)
|
rs371117671
|
|
|
NM_183050.4(BCKDHB):c.348del (p.Asp117fs)
|
rs1400121541
|
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
|
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)
|
rs776631396
|
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
|
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)
|
rs149766077
|
|
|
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln)
|
rs79761867
|
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
|
NM_183050.4(BCKDHB):c.612dup (p.Ala205fs)
|
|
|
|
NM_183050.4(BCKDHB):c.633+1G>T
|
rs398124589
|
|
|
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)
|
rs398124601
|
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
|
NM_183065.4(TMEM107):c.*689A>C
|
rs1400162090
|
|
|
NM_183065.4(TMEM107):c.*696A>G
|
rs779456932
|
|
|
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)
|
rs550088634
|
|
|
NM_183235.3(RAB27A):c.467+1G>C
|
rs756071120
|
|
|
NM_183357.3(ADCY5):c.1655G>A (p.Arg552Gln)
|
rs2108391289
|
|
|
NM_183357.3(ADCY5):c.3119T>C (p.Leu1040Pro)
|
rs2108195005
|
|
|
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser)
|
rs749154761
|
|
|
NM_194248.3(OTOF):c.1172del (p.Lys391fs)
|
rs483353050
|
|
|
NM_194248.3(OTOF):c.13A>G (p.Ile5Val)
|
rs745503114
|
|
|
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)
|
rs80356585
|
|
|
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)
|
rs80356585
|
|
|
NM_194248.3(OTOF):c.153_159del (p.Val52fs)
|
|
|
|
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu)
|
rs150090360
|
|
|
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)
|
rs200864338
|
|
|
NM_194248.3(OTOF):c.2245A>T (p.Ile749Phe)
|
rs781354904
|
|
|
NM_194248.3(OTOF):c.2348del (p.Gly783fs)
|
rs80356591
|
|
|
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
|
|
|
|
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)
|
rs1423777622
|
|
|
NM_194248.3(OTOF):c.3205T>G (p.Phe1069Val)
|
|
|
|
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)
|
rs397515599
|
|
|
NM_194248.3(OTOF):c.4228-1G>T
|
|
|
|
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
|
|
|
|
NM_194248.3(OTOF):c.5180G>A (p.Arg1727Gln)
|
|
|
|
NM_194248.3(OTOF):c.5534-2A>G
|
rs1664440809
|
|
|
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)
|
rs2148018483
|
|
|
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
|
|
|
|
NM_194248.3(OTOF):c.5712+6C>T
|
|
|
|
NM_194248.3(OTOF):c.5728G>A (p.Glu1910Lys)
|
|
|
|
NM_194248.3(OTOF):c.5813A>G (p.Asn1938Ser)
|
|
|
|
NM_194248.3(OTOF):c.5821G>T (p.Asp1941Tyr)
|
rs545842714
|
|
|
NM_194277.3(FRMD7):c.557T>C (p.Met186Thr)
|
|
|
|
NM_194279.4(ISCA2):c.313A>G (p.Arg105Gly)
|
|
|
|
NM_194292.3(SASS6):c.497C>A (p.Ser166Ter)
|
|
|
|
NM_194318.4(B3GLCT):c.1184+1G>A
|
rs2137936107
|
|
|
NM_194323.3(OTOF):c.3624del (p.Leu1209fs)
|
rs727505359
|
|
|
NM_194323.3(OTOF):c.3678G>T (p.Lys1226Asn)
|
|
|
|
NM_194454.3(KRIT1):c.143del (p.Lys48fs)
|
rs776245507
|
|
|
NM_197968.4(ZMYM2):c.1039C>T (p.Arg347Ter)
|
|
|
|
NM_197968.4(ZMYM2):c.289T>G (p.Ser97Ala)
|
|
|
|
NM_197968.4(ZMYM2):c.3820+3A>G
|
|
|
|
NM_197968.4(ZMYM2):c.950C>T (p.Pro317Leu)
|
|
|
|
NM_198053.3(CD247):c.59-3_59-2del
|
|
|
|
NM_198076.6(COX20):c.185dup (p.Val63fs)
|
|
|
|
NM_198129.4(LAMA3):c.5546del (p.Gly1849fs)
|
rs760487161
|
|
|
NM_198129.4(LAMA3):c.5632C>T (p.Arg1878Cys)
|
rs867507379
|
|
|
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)
|
rs1158945258
|
|
|
NM_198129.4(LAMA3):c.6281C>A (p.Thr2094Asn)
|
rs2145140189
|
|
|
NM_198129.4(LAMA3):c.6976G>C (p.Glu2326Gln)
|
rs148831718
|
|
|
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)
|
rs768415785
|
|
|
NM_198129.4(LAMA3):c.8178-1G>C
|
rs1047102588
|
|
|
NM_198129.4(LAMA3):c.8295+1_8295+11del
|
|
|
|
NM_198129.4(LAMA3):c.8708+4G>A
|
rs200417639
|
|
|
NM_198129.4(LAMA3):c.8862+1G>A
|
|
|
|
NM_198239.2(CCN6):c.1013A>T (p.Gln338Leu)
|
|
|
|
NM_198239.2(CCN6):c.1024dup (p.Arg342fs)
|
|
|
|
NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)
|
|
|
|
NM_198239.2(CCN6):c.40_44del (p.Leu14fs)
|
|
|
|
NM_198239.2(CCN6):c.624dup (p.Cys209fs)
|
rs781790231
|
|
|
NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)
|
|
|
|
NM_198239.2(CCN6):c.897C>A (p.Cys299Ter)
|
|
|
|
NM_198241.3(EIF4G1):c.2500A>G (p.Thr834Ala)
|
|
|
|
NM_198252.3(GSN):c.-9-1986C>T
|
|
|
|
NM_198391.3(FLRT3):c.741A>T (p.Thr247=)
|
|
|
|
NM_198407.2(GHSR):c.367A>G (p.Ser123Gly)
|
|
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
|
NM_198428.3(BBS9):c.703-1G>C
|
|
|
|
NM_198503.5(KCNT2):c.1294+1G>T
|
|
|
|
NM_198503.5(KCNT2):c.1884C>T (p.Ser628=)
|
|
|
|
NM_198503.5(KCNT2):c.944T>C (p.Met315Thr)
|
|
|
|
NM_198535.3(ZNF699):c.1891C>T (p.Arg631Ter)
|
|
|
|
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr)
|
rs538792693
|
|
|
NM_198578.4(LRRK2):c.192_193del (p.Leu65fs)
|
|
|
|
NM_198578.4(LRRK2):c.4976C>G (p.Ala1659Gly)
|
|
|
|
NM_198578.4(LRRK2):c.6242A>T (p.Asn2081Ile)
|
|
|
|
NM_198578.4(LRRK2):c.7182G>C (p.Arg2394Ser)
|
|
|
|
NM_198681.4(PLEKHG5):c.-164-753T>A
|
|
|
|
NM_198880.3(QRICH1):c.1441G>A (p.Val481Ile)
|
|
|
|
NM_198880.3(QRICH1):c.2139-17A>C
|
|
|
|
NM_198904.4(GABRG2):c.1152+3_1152+9dup
|
|
|
|
NM_198947.4(FAM111B):c.103_104del (p.His35fs)
|
rs2135403553
|
|
|
NM_198965.2(PTHLH):c.44T>G (p.Leu15Arg)
|
rs2120670890
|
|
|
NM_198994.2(TGM6):c.425_435del11
|
rs1222726216
|
|
|
NM_198994.3(TGM6):c.1134C>T (p.Arg378=)
|
|
|
|
NM_198994.3(TGM6):c.1678+9A>T
|
|
|
|
NM_198994.3(TGM6):c.1679-11T>C
|
|
|
|
NM_198994.3(TGM6):c.732C>T (p.Gly244=)
|
|
|
|
NM_198994.3(TGM6):c.990-1G>C
|
|
|
|
NM_198994.3(TGM6):c.999T>C (p.His333=)
|
|
|
|
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr)
|
rs67486287
|
|
|
NM_199242.3(UNC13D):c.1204C>G (p.Leu402Val)
|
|
|
|
NM_199242.3(UNC13D):c.1447-14C>T
|
|
|
|
NM_199242.3(UNC13D):c.1454C>T (p.Pro485Leu)
|
rs550974990
|
|
|
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)
|
|
|
|
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)
|
rs377293829
|
|
|
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)
|
rs754621494
|
|
|
NM_199242.3(UNC13D):c.2030T>C (p.Ile677Thr)
|
|
|
|
NM_199242.3(UNC13D):c.2448-13G>A
|
rs753762300
|
|
|
NM_199242.3(UNC13D):c.469C>T (p.Gln157Ter)
|
|
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
|
NM_201253.3(CRB1):c.1688G>C (p.Ser563Thr)
|
|
|
|
NM_201253.3(CRB1):c.1777G>A (p.Ala593Thr)
|
|
|
|
NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)
|
|
|
|
NM_201253.3(CRB1):c.2093G>A (p.Cys698Tyr)
|
|
|
|
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp)
|
rs878853365
|
|
|
NM_201253.3(CRB1):c.2416G>C (p.Glu806Gln)
|
|
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
|
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)
|
rs62636274
|
|
|
NM_201253.3(CRB1):c.3520T>G (p.Cys1174Gly)
|
|
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
|
NM_201253.3(CRB1):c.3901T>C (p.Cys1301Arg)
|
|
|
|
NM_201253.3(CRB1):c.936T>G (p.Asn312Lys)
|
|
|
|
NM_201384.3(PLEC):c.1737+11C>G
|
|
|
|
NM_201384.3(PLEC):c.5722C>T (p.Arg1908Trp)
|
|
|
|
NM_201384.3(PLEC):c.8995C>T (p.Gln2999Ter)
|
|
|
|
NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter)
|
|
|
|
NM_201548.5(CERKL):c.1287G>A (p.Met429Ile)
|
rs766319295
|
|
|
NM_201548.5(CERKL):c.1366-2A>G
|
|
|
|
NM_201548.5(CERKL):c.1538+4A>C
|
|
|
|
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)
|
rs569826109
|
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
|
NM_201548.5(CERKL):c.568del (p.Val190fs)
|
|
|
|
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)
|
rs769632183
|
|
|
NM_201596.3(CACNB2):c.1206+4_1206+7dup
|
rs1456201116
|
|
|
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp)
|
rs137886839
|
|
|
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln)
|
rs766377211
|
|
|
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
|
rs142639223
|
|
|
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu)
|
rs142639223
|
|
|
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro)
|
rs577739840
|
|
|
NM_201596.3(CACNB2):c.1933A>T (p.Lys645Ter)
|
|
|
|
NM_201596.3(CACNB2):c.622T>C (p.Leu208=)
|
rs538160664
|
|
|
NM_203395.3(IYD):c.371-13G>T
|
|
|
|
NM_203395.3(IYD):c.835C>T (p.Arg279Cys)
|
|
|
|
NM_203447.4(DOCK8):c.230T>C (p.Val77Ala)
|
rs2130293015
|
|
|
NM_203447.4(DOCK8):c.295G>A (p.Glu99Lys)
|
rs547012088
|
|
|
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr)
|
rs760902978
|
|
|
NM_203447.4(DOCK8):c.53+14del
|
rs749863710
|
|
|
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)
|
rs786200899
|
|
|
NM_205836.3(FBXO38):c.2519G>C (p.Gly840Ala)
|
|
|
|
NM_205836.3(FBXO38):c.2580T>A (p.Asn860Lys)
|
|
|
|
NM_205836.3(FBXO38):c.2683A>C (p.Met895Leu)
|
|
|
|
NM_205836.3(FBXO38):c.3388+11C>T
|
|
|
|
NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)
|
rs1557447255
|
|
|
NM_205861.3(DHDDS):c.644del (p.Phe215fs)
|
|
|
|
NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter)
|
rs1180408059
|
|
|
NM_205861.3(DHDDS):c.908_941del (p.Ser303fs)
|
|
|
|
NM_206900.3(RTN2):c.814+791_814+801del
|
rs1568624823
|
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
|
NM_206933.4(USH2A):c.1064T>C (p.Val355Ala)
|
|
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
|
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
|
rs908265742
|
|
|
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
|
|
|
|
NM_206933.4(USH2A):c.12116A>G (p.Tyr4039Cys)
|
rs1658185167
|
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
|
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
|
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
|
rs1234273599
|
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
|
NM_206933.4(USH2A):c.1346G>T (p.Arg449Leu)
|
rs766715882
|
|
|
NM_206933.4(USH2A):c.13757A>G (p.His4586Arg)
|
rs1657913699
|
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
|
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
|
NM_206933.4(USH2A):c.1468C>T (p.His490Tyr)
|
|
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
|
NM_206933.4(USH2A):c.15465dup (p.Val5156fs)
|
rs769582796
|
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
|
NM_206933.4(USH2A):c.1723T>A (p.Cys575Ser)
|
|
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
|
NM_206933.4(USH2A):c.1971+14A>C
|
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
|
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
|
|
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
|
NM_206933.4(USH2A):c.3895A>G (p.Ser1299Gly)
|
|
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
|
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile)
|
rs2034687815
|
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
|
NM_206933.4(USH2A):c.46G>A (p.Val16Ile)
|
|
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
|
NM_206933.4(USH2A):c.506T>C (p.Val169Ala)
|
rs2102784093
|
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
|
|
|
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
|
|
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
|
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)
|
rs727504893
|
|
|
NM_206933.4(USH2A):c.6383G>A (p.Cys2128Tyr)
|
|
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
|
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
|
rs1421761057
|
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
|
|
|
NM_206933.4(USH2A):c.7054C>T (p.Pro2352Ser)
|
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
|
NM_206933.4(USH2A):c.7234G>A (p.Val2412Met)
|
|
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
|
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
|
|
NM_206937.2(LIG4):c.2612G>A (p.Arg871His)
|
|
|
|
NM_206937.2(LIG4):c.613del (p.Ser205fs)
|
rs780879476
|
|
|
NM_206937.2(LIG4):c.799_800del (p.Ser267fs)
|
rs1566366148
|
|
|
NM_206965.2(FTCD):c.1373_1375del (p.Val458del)
|
|
|
|
NM_206965.2(FTCD):c.1537dup (p.Gln513fs)
|
|
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
|
NM_207034.3(EDN3):c.674_675del (p.Pro225fs)
|
|
|
|
NM_207037.2(TCF12):c.527-6C>A
|
rs936573930
|
|
|
NM_207037.2(TCF12):c.904A>G (p.Thr302Ala)
|
rs775936474
|
|
|
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)
|
rs587784476
|
|
|
NM_207346.3(TSEN54):c.1535del (p.Phe512fs)
|
rs2147019791
|
|
|
NM_207346.3(TSEN54):c.285G>C (p.Ala95=)
|
|
|
|
NM_207346.3(TSEN54):c.621_623+9del
|
|
|
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NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
|
|
|
|
NM_207361.6(FREM2):c.2833del (p.His945fs)
|
rs759257554
|
|
|
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
|
|
|
|
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
|
|
|
|
NM_207361.6(FREM2):c.5768-17A>G
|
rs2137831378
|
|
|
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs)
|
rs2137911471
|
|
|
NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)
|
|
|
|
NM_207361.6(FREM2):c.8451dup (p.Cys2818fs)
|
|
|
|
NM_207361.6(FREM2):c.9007-1G>A
|
|
|
|
NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter)
|
|
|
|
NM_207581.4(DUOXA2):c.149G>A (p.Arg50His)
|
|
|
|
NM_207581.4(DUOXA2):c.573G>A (p.Trp191Ter)
|
|
|
|
NM_207581.4(DUOXA2):c.671T>C (p.Leu224Ser)
|
|
|
|
NM_207581.4(DUOXA2):c.778_779del (p.Cys260fs)
|
rs751628515
|
|
|
NM_207581.4(DUOXA2):c.78C>G (p.Ile26Met)
|
|
|
|
NM_212481.3(ARID5A):c.240_241del (p.His81fs)
|
|
|
|
NM_212481.3(ARID5A):c.241_242del (p.His81fs)
|
|
|
|
NM_212482.4(FN1):c.2686C>T (p.Gln896Ter)
|
|
|
|
NM_212482.4(FN1):c.340C>G (p.Arg114Gly)
|
|
|
|
NM_212550.5(BLOC1S3):c.124G>T (p.Gly42Cys)
|
|
|
|
NM_212550.5(BLOC1S3):c.437T>A (p.Leu146Gln)
|
rs1969484326
|
|
|
NM_212552.3(BOLA3):c.259-1G>C
|
|
|
|
NM_213569.2(NEBL):c.357+73449dup
|
rs57918610
|
|
|
NM_213569.2(NEBL):c.357+73457del
|
rs57918610
|
|
|
NM_213599.3(ANO5):c.1520del (p.Phe507fs)
|
rs794727158
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
|
NM_213599.3(ANO5):c.950C>A (p.Ala317Glu)
|
|
|
|
NM_213622.4(STAMBP):c.5_6dup (p.Asp3fs)
|
|
|
|
NM_213622.4(STAMBP):c.891C>T (p.Thr297=)
|
rs150793338
|
|
|
NM_213653.4(HJV):c.3G>C (p.Met1Ile)
|
|
|
|
NM_213653.4(HJV):c.657+2T>A
|
rs2101984042
|
|
|
NM_213653.4(HJV):c.820G>A (p.Val274Met)
|
|
|
|
NM_213653.4(HJV):c.862C>T (p.Arg288Trp)
|
|
|
|
NM_213653.4(HJV):c.960dup (p.Cys321fs)
|
|
|
|
NM_213655.5(WNK1):c.2829G>T (p.Gln943His)
|
|
|
|
NM_213720.3(CHCHD10):c.228G>C (p.Gly76=)
|
|
|
|
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
|
|
|
|
NM_213720.3(CHCHD10):c.335del (p.Cys112fs)
|
rs1926784873
|
|
|
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC
|
rs727502776
|
|
|
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC
|
rs1554651486
|
|
|
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA
|
rs1554651425
|
|
|
NR_003051.3(RMRP):n.-13_-6dup
|
rs1563907946
|
|
|
NR_003051.3(RMRP):n.-13_1dup14
|
rs1554651373
|
|
|
NR_003051.3(RMRP):n.-15_-6dup
|
rs1554651447
|
|
|
NR_003051.3(RMRP):n.-15_-8dup
|
rs1230629953
|
|
|
NR_003051.3(RMRP):n.-17_-3dup15
|
rs1823634410
|
|
|
NR_003051.3(RMRP):n.-17_-5dup13
|
rs1823637491
|
|
|
NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC
|
rs1823648167
|
|
|
NR_003051.3(RMRP):n.-19_-3dup
|
rs727502778
|
|
|
NR_003051.3(RMRP):n.-19_-5dup
|
rs1823637565
|
|
|
NR_003051.3(RMRP):n.-20C>G
|
rs183974004
|
|
|
NR_003051.3(RMRP):n.-20C>T
|
rs183974004
|
|
|
NR_003051.3(RMRP):n.-20_-10dup
|
rs1554651486
|
|
|
NR_003051.3(RMRP):n.-20_-13dup
|
rs1554651512
|
|
|
NR_003051.3(RMRP):n.-20_-7dup14
|
rs1823639713
|
|
|
NR_003051.3(RMRP):n.-21_-4dup
|
rs1563907881
|
|
|
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT
|
rs751921616
|
|
|
NR_003051.3(RMRP):n.-22_-11dup
|
rs1179735603
|
|
|
NR_003051.3(RMRP):n.-22_-3dup
|
rs1554651411
|
|
|
NR_003051.3(RMRP):n.-24_-18dup
|
rs1554651543
|
|
|
NR_003051.3(RMRP):n.-24_-4dup
|
rs1563907883
|
|
|
NR_003051.3(RMRP):n.-25_-6dup
|
rs1554651445
|
|
|
NR_003051.3(RMRP):n.-27_-6dup22
|
rs1823638952
|
|
|
NR_003051.3(RMRP):n.-6G>C
|
rs191438045
|
|
|
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG
|
rs1554651451
|
|
|
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA
|
rs1554651439
|
|
|
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA
|
rs1823639598
|
|
|
NR_003051.3(RMRP):n.-7_1dup
|
rs752934195
|
|
|
NR_003051.3(RMRP):n.-9T>G
|
rs12552387
|
|
|
NR_003051.3(RMRP):n.147G>A
|
rs753874439
|
|
|
NR_003051.3(RMRP):n.157_159delinsCTG
|
|
|
|
NR_003051.4(RMRP):n.107C>G
|
|
|
|
NR_003051.4(RMRP):n.11T>C
|
rs748814304
|
|
|
NR_003051.4(RMRP):n.144G>A
|
rs113967059
|
|
|
NR_003051.4(RMRP):n.182G>A
|
rs1004469515
|
|
|
NR_003051.4(RMRP):n.184G>A
|
rs1554651153
|
|
|
NR_003051.4(RMRP):n.197C>T
|
rs948931144
|
|
|
NR_003051.4(RMRP):n.19_20insA
|
|
|
|
NR_003051.4(RMRP):n.213C>G
|
rs192060920
|
|
|
NR_003051.4(RMRP):n.216A>G
|
rs886041234
|
|
|
NR_003051.4(RMRP):n.217G>A
|
|
|
|
NR_003051.4(RMRP):n.219C>T
|
|
|
|
NR_003051.4(RMRP):n.220A>G
|
rs936059863
|
|
|
NR_003051.4(RMRP):n.242A>C
|
rs1038523315
|
|
|
NR_003051.4(RMRP):n.254T>G
|
|
|
|
NR_003051.4(RMRP):n.262G>A
|
rs769080777
|
|
|
NR_003051.4(RMRP):n.52C>T
|
rs1064793373
|
|
|
NR_003051.4(RMRP):n.54dup
|
rs151011853
|
|
|
NR_003051.4(RMRP):n.63G>A
|
rs544069410
|
|
|
NR_003051.4(RMRP):n.63G>C
|
rs544069410
|
|
|
NR_003051.4(RMRP):n.87C>T
|
rs545284014
|
|
|
STAT3:c.1601-72_1601-71del
|
rs149538586
|
|
|
STAT3:c.469-34_469-30del
|
rs140846959
|
|
|
Single allele
|
|
|
|
p.X214Trp
|
|
|
|
p.X466Trp
|
|
|