ClinVar Miner

List of variants reported as uncertain significance for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30796
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_004608.4(TBX6):c.-49+34G>T rs3809627 0.40816
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_001104631.2(PDE4D):c.*4886A>C rs17291089 0.07219
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) rs34764749 0.06739
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_001011658.4(TRAPPC2):c.*263T>C rs377210137 0.03618
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_002010.3(FGF9):c.*274A>G rs9796160 0.02722
NM_004282.4(BAG2):c.*5020C>T rs182662 0.01805
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_004273.5(CHST3):c.*406G>A rs80210009 0.01614
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile) rs34722354 0.01358
NM_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01211
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_000112.4(SLC26A2):c.*2873C>T rs114919633 0.00970
NM_004273.5(CHST3):c.*346C>T rs76094341 0.00947
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_006182.4(DDR2):c.699C>T (p.Thr233=) rs56351141 0.00925
NM_001159773.2(CANT1):c.*1167G>A rs186436891 0.00916
NM_000136.3(FANCC):c.*96A>G rs55687573 0.00893
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_012463.4(ATP6V0A2):c.*2875A>C rs149741581 0.00851
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_004273.5(CHST3):c.*3306A>G rs12250549 0.00836
NM_004273.5(CHST3):c.*274C>T rs116508900 0.00804
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_001039958.2(MESP2):c.585A>G (p.Gly195=) rs113636330 0.00779
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_006182.4(DDR2):c.2481G>T (p.Leu827=) rs35077871 0.00708
NM_004273.5(CHST3):c.*4341C>A rs12267478 0.00688
NM_004836.6(EIF2AK3):c.-201A>G rs144057685 0.00671
NM_004608.4(TBX6):c.354-762T>C rs115865007 0.00631
NM_024675.3(PALB2):c.-158G>C rs138200248 0.00631
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00628
NM_012463.4(ATP6V0A2):c.*3665T>G rs2651 0.00616
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_000112.4(SLC26A2):c.*330G>T rs191884433 0.00587
NM_004273.5(CHST3):c.*1009C>T rs190763138 0.00583
NM_022725.4(FANCF):c.*1879T>C rs45553340 0.00575
NM_001793.5(CDH3):c.-267C>T rs182969772 0.00570
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_014762.4(DHCR24):c.*1489G>A rs192013345 0.00558
NM_001854.4(COL11A1):c.*1203G>A rs190577885 0.00554
NM_032043.3(BRIP1):c.*3489T>C rs140891191 0.00554
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_001844.5(COL2A1):c.*305G>A rs532700241 0.00516
NM_004273.5(CHST3):c.*523A>G rs189173490 0.00516
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_031296.2(RAB33B):c.-363G>A rs535498698 0.00494
NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp) rs202243737 0.00484
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_001127671.2(LIFR):c.*6395T>C rs141407987 0.00474
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_004273.5(CHST3):c.*4633G>T rs117714459 0.00456
NM_006371.5(CRTAP):c.*1361G>A rs112399944 0.00432
NM_002010.3(FGF9):c.*306A>G rs75400485 0.00431
NM_000088.4(COL1A1):c.2452-23del rs146899953 0.00427
NM_001127671.2(LIFR):c.*1474T>G rs567565130 0.00421
NM_012463.4(ATP6V0A2):c.*2876A>T rs191476665 0.00418
NM_001011658.4(TRAPPC2):c.*942G>T rs768568672 0.00414
NM_001127671.2(LIFR):c.*5060T>A rs183333459 0.00406
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_001127671.2(LIFR):c.*1540A>G rs547319835 0.00401
NM_006182.4(DDR2):c.510C>T (p.Thr170=) rs56313008 0.00399
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_001235.5(SERPINH1):c.*228A>G rs189882479 0.00389
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_004273.5(CHST3):c.*2660C>T rs143743853 0.00389
NM_031296.2(RAB33B):c.-167A>C rs190790812 0.00374
NM_004273.5(CHST3):c.*855A>C rs181471425 0.00370
NM_004273.5(CHST3):c.*1130C>G rs4148942 0.00369
NM_004273.5(CHST3):c.*856C>G rs186004202 0.00369
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) rs187725533 0.00364
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_001159773.2(CANT1):c.-202A>C rs377716176 0.00358
NM_032043.3(BRIP1):c.*4040T>A rs111580456 0.00356
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_000112.4(SLC26A2):c.-183G>C rs540241474 0.00338
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_014762.4(DHCR24):c.*1424C>T rs113651566 0.00331
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_022725.4(FANCF):c.*708C>T rs61889392 0.00321
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NM_002693.3(POLG):c.3644-72C>A rs1801377 0.00312
NM_000112.4(SLC26A2):c.*3507T>A rs180966130 0.00309
NM_006371.4(CRTAP):c.-101G>C rs189698814 0.00309
NM_001127671.2(LIFR):c.*3748T>C rs144332222 0.00305
NM_006371.5(CRTAP):c.*4844C>T rs146565729 0.00302
NM_002615.7(SERPINF1):c.85-14C>T rs200755661 0.00299
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_004273.5(CHST3):c.*290G>C rs184330297 0.00296
NM_006371.5(CRTAP):c.*3221C>T rs552901003 0.00296
NM_005430.4(WNT1):c.1007C>T (p.Thr336Met) rs148154047 0.00294
NM_006129.5(BMP1):c.*452A>C rs117522390 0.00293
NM_001429.4(EP300):c.*745del rs532524940 0.00291
NM_020779.4(WDR35):c.*813A>T rs148210550 0.00290
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_004239.4(TRIP11):c.*100A>G rs144403505 0.00286
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000112.4(SLC26A2):c.*205G>A rs115383424 0.00280
NM_001104631.2(PDE4D):c.*2100C>T rs577109679 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_000192.3(TBX5):c.-481T>C rs575879858 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_032043.3(BRIP1):c.*128A>G rs150444311 0.00277
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000112.4(SLC26A2):c.*2470T>G rs555959221 0.00274
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_001854.4(COL11A1):c.898-185T>C rs138792819 0.00263
NM_000136.3(FANCC):c.-225C>T rs182633348 0.00262
NM_004273.5(CHST3):c.*981A>T rs573670057 0.00258
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_022356.4(P3H1):c.*262C>T rs41303415 0.00257
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_000112.4(SLC26A2):c.*443T>C rs115977282 0.00246
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00245
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_004239.4(TRIP11):c.*384A>T rs886050900 0.00233
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000088.4(COL1A1):c.-57G>A rs2734278 0.00229
NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408 0.00229
NM_006182.4(DDR2):c.-27-11G>C rs180854216 0.00226
NM_001018115.3(FANCD2):c.4281+398G>C rs34092072 0.00225
NM_000136.3(FANCC):c.*450G>A rs149227790 0.00224
NM_022167.4(XYLT2):c.2463C>T (p.Ser821=) rs147148985 0.00224
NM_002310.6(LIFR):c.-129T>G rs55892837 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_000088.4(COL1A1):c.*548C>A rs557681960 0.00220
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_023110.3(FGFR1):c.*1026T>C rs542417198 0.00214
NM_001024630.4(RUNX2):c.*3111T>C rs561547493 0.00213
NM_016277.5(RAB23):c.*544G>A rs138311113 0.00213
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_001854.4(COL11A1):c.3384+13T>G rs201970483 0.00210
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) rs140381459 0.00210
NM_004273.5(CHST3):c.*2869G>A rs556516377 0.00209
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000136.3(FANCC):c.*2524G>A rs56199232 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_001361.5(DHODH):c.*341C>T rs150996747 0.00205
NM_004273.5(CHST3):c.*3445G>A rs185581202 0.00203
NM_001104631.2(PDE4D):c.*2653C>T rs13172038 0.00201
NM_002427.4(MMP13):c.52C>T (p.Arg18Trp) rs61733406 0.00200
NM_020779.4(WDR35):c.*3225G>A rs189820516 0.00198
NM_020779.4(WDR35):c.*3235C>A rs186978842 0.00198
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_018475.5(TMEM165):c.294C>T (p.Val98=) rs11542641 0.00191
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val) rs568899945 0.00191
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001039958.2(MESP2):c.*107T>C rs187988937 0.00187
NM_014762.4(DHCR24):c.*914G>A rs140759061 0.00185
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_020779.4(WDR35):c.*997T>C rs536197643 0.00183
NM_004273.5(CHST3):c.*809C>T rs145689465 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) rs138190335 0.00175
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_006371.5(CRTAP):c.*2674A>G rs528845478 0.00171
NM_182943.3(PLOD2):c.-73C>T rs148948195 0.00171
NM_006182.4(DDR2):c.1099+12A>C rs144350332 0.00170
NM_022458.4(LMBR1):c.-176G>A rs886062124 0.00170
NM_000112.4(SLC26A2):c.*4659G>T rs143908264 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_001793.6(CDH3):c.*87G>C rs555473968 0.00166
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_014762.4(DHCR24):c.*2038G>A rs116411531 0.00162
NM_020779.4(WDR35):c.*1582C>T rs757203175 0.00162
NM_001235.5(SERPINH1):c.*153G>A rs146501145 0.00161
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_006371.5(CRTAP):c.*1071G>T rs140601474 0.00160
NM_006371.5(CRTAP):c.*3720C>A rs62250520 0.00160
NM_021939.3(FKBP10):c.-177C>G rs555053677 0.00160
NM_152281.3(GORAB):c.*1127T>G rs542501839 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_001104631.2(PDE4D):c.*2747G>A rs557226166 0.00156
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_012463.4(ATP6V0A2):c.*2618A>G rs193208741 0.00155
NM_022725.4(FANCF):c.*1440A>G rs191742011 0.00155
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00155
NM_003722.5(TP63):c.*1181T>C rs565556454 0.00153
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00152
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_021926.4(ALX4):c.440G>A (p.Ser147Asn) rs374726657 0.00151
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_002615.7(SERPINF1):c.*37C>G rs12103619 0.00150
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_021939.4(FKBP10):c.1137G>A (p.Val379=) rs116142981 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_000112.4(SLC26A2):c.*1970G>T rs147208348 0.00148
NM_001353214.3(DYM):c.620+4T>G rs201652921 0.00148
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) rs145868557 0.00148
NM_006182.4(DDR2):c.1509C>T (p.Cys503=) rs144293078 0.00148
NM_014140.4(SMARCAL1):c.-141G>A rs542884297 0.00148
NM_014762.4(DHCR24):c.*2080C>T rs377656375 0.00148
NM_002693.3(POLG):c.3644-184T>C rs115758754 0.00147
NM_014762.4(DHCR24):c.*1815A>T rs570922003 0.00147
NM_000136.3(FANCC):c.*1483T>C rs552548603 0.00146
NM_002449.5(MSX2):c.*366T>G rs193163747 0.00146
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825 0.00146
NM_001127671.2(LIFR):c.*6100G>A rs188682396 0.00145
NM_020779.4(WDR35):c.*2160T>C rs192966128 0.00144
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile) rs143877028 0.00144
NM_182943.3(PLOD2):c.-81C>T rs886058065 0.00142
NM_024675.4(PALB2):c.*232G>T rs180748355 0.00141
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly) rs140051968 0.00141
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000942.5(PPIB):c.*65G>C rs2230223 0.00140
NM_001854.4(COL11A1):c.*508G>A rs3088150 0.00140
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_002449.5(MSX2):c.*1189G>A rs146501739 0.00137
NM_002010.3(FGF9):c.*526A>C rs538980565 0.00136
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_004836.7(EIF2AK3):c.*635G>A rs180734302 0.00131
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_006182.4(DDR2):c.*48A>G rs137901988 0.00130
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_182943.3(PLOD2):c.-170C>G rs527384365 0.00129
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_006371.5(CRTAP):c.*5195C>A rs534020504 0.00128
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_006371.5(CRTAP):c.*501C>T rs115581077 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_001793.4(CDH3):c.-646_-645insA rs886052221 0.00124
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
NM_001159773.2(CANT1):c.*89G>A rs146866436 0.00123
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00122
NM_152281.3(GORAB):c.*1063T>A rs577629045 0.00121
NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) rs138281924 0.00120
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926 0.00118
NM_022458.4(LMBR1):c.*1150A>G rs560435795 0.00118
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser) rs140157299 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_022458.4(LMBR1):c.*2477G>A rs151167124 0.00116
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_001127671.2(LIFR):c.*320C>T rs149357204 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) rs138427861 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_006129.5(BMP1):c.2406C>T (p.Tyr802=) rs144666655 0.00113
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_012463.4(ATP6V0A2):c.*2929C>G rs145602576 0.00111
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) rs892958562 0.00109
NM_006031.6(PCNT):c.7180-8C>T rs143511166 0.00108
NM_052854.4(CREB3L1):c.284C>T (p.Ala95Val) rs190038304 0.00108
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_001159773.2(CANT1):c.-233C>T rs886053533 0.00106
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_001174147.2(LMX1B):c.886+18C>T rs529668402 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_001104631.2(PDE4D):c.*535A>G rs781074391 0.00103
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938 0.00103
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr) rs142071466 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser) rs199838752 0.00102
NM_000396.4(CTSK):c.399+9C>T rs188468815 0.00101
NM_001127671.2(LIFR):c.*3449G>T rs147793103 0.00101
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_000192.3(TBX5):c.-255G>T rs186472610 0.00100
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_004793.4(LONP1):c.1817C>T (p.Ala606Val) rs145519500 0.00100
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_002427.4(MMP13):c.*160G>A rs17860583 0.00098
NM_004273.5(CHST3):c.*4359A>G rs145151652 0.00098
NM_020779.4(WDR35):c.*1006G>A rs80292673 0.00098
NM_020779.4(WDR35):c.*1668A>C rs191316348 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_021922.3(FANCE):c.696G>A (p.Glu232=) rs147356927 0.00098
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val) rs146701946 0.00098
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) rs140538535 0.00097
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_000136.3(FANCC):c.*667C>T rs150462386 0.00096
NM_001039958.2(MESP2):c.*182C>T rs553766281 0.00096
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile) rs148118826 0.00096
NM_001235.5(SERPINH1):c.*556G>A rs180685772 0.00095
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581 0.00095
NM_004273.5(CHST3):c.*3571T>C rs575592721 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_001854.4(COL11A1):c.*628dup rs532806397 0.00093
NM_004282.4(BAG2):c.*4263C>T rs549684091 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_032043.3(BRIP1):c.*2337A>T rs373664066 0.00093
NM_001361.5(DHODH):c.*383G>A rs180755493 0.00092
NM_005529.7(HSPG2):c.958+14G>A rs200930800 0.00092
NM_006306.4(SMC1A):c.*2609A>C rs192734396 0.00092
NM_014762.4(DHCR24):c.616G>A (p.Glu206Lys) rs150688144 0.00092
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) rs141025897 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_015139.3(SLC35D1):c.301C>T (p.Leu101Phe) rs145382776 0.00091
NM_001113525.2(ZNF276):c.*183C>T rs577149121 0.00090
NM_032043.3(BRIP1):c.*3188G>A rs369850537 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_001235.5(SERPINH1):c.*179A>G rs557446600 0.00089
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_012463.4(ATP6V0A2):c.*1681G>A rs575925916 0.00089
NM_012463.4(ATP6V0A2):c.*577C>T rs577796265 0.00089
NM_032043.3(BRIP1):c.*132G>A rs143361598 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) rs192923495 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_005529.7(HSPG2):c.4740+14G>A rs370407461 0.00088
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_001113525.2(ZNF276):c.1475-48G>A rs201316239 0.00086
NM_001159773.2(CANT1):c.*1412A>G rs190318927 0.00086
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229 0.00086
NM_006371.5(CRTAP):c.*2146C>A rs113966745 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_000112.4(SLC26A2):c.*1032G>T rs188329536 0.00085
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) rs201139850 0.00085
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_006371.5(CRTAP):c.*5223T>A rs192685869 0.00084
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_000112.4(SLC26A2):c.*1588T>C rs537659797 0.00083
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00083
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_002010.3(FGF9):c.*2291A>C rs545346016 0.00083
NM_006371.5(CRTAP):c.*3012G>A rs576963168 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_003052.5(SLC34A1):c.*65G>A rs974632595 0.00081
NM_023110.3(FGFR1):c.*1446A>C rs578094209 0.00081
NM_001018115.3(FANCD2):c.1656+14T>A rs200473919 0.00080
NM_001174147.2(LMX1B):c.*950G>C rs568763153 0.00080
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg) rs201564256 0.00080
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser) rs34813787 0.00079
NM_004282.4(BAG2):c.*3685C>T rs547766165 0.00079
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=) rs150586616 0.00078
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln) rs142495470 0.00078
NM_014140.4(SMARCAL1):c.2528+15G>A rs200879397 0.00078
NM_018475.5(TMEM165):c.433+15C>A rs370138167 0.00078
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924 0.00078
NM_203486.3(DLL3):c.652+15C>T rs528327447 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000112.4(SLC26A2):c.*300C>T rs570796999 0.00077
NM_000136.3(FANCC):c.*983C>T rs56059656 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_003722.5(TP63):c.*101C>T rs574438859 0.00077
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) rs548190846 0.00077
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_000059.4(BRCA2):c.*753C>T rs190094748 0.00076
NM_001793.5(CDH3):c.-193G>T rs550203444 0.00076
NM_004282.4(BAG2):c.*5549A>G rs143345846 0.00076
NM_006031.6(PCNT):c.1107T>C (p.His369=) rs113731555 0.00076
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644 0.00076
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00076
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) rs138534367 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_001793.5(CDH3):c.-72T>C rs557660477 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu) rs776232288 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_182943.3(PLOD2):c.*1157T>C rs569145930 0.00074
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_001024630.4(RUNX2):c.*2845A>C rs558458433 0.00073
NM_002010.3(FGF9):c.*2787G>T rs758942316 0.00073
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_001024630.4(RUNX2):c.*155A>G rs1016786049 0.00072
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) rs142064825 0.00071
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_004239.4(TRIP11):c.5057-9T>G rs372161255 0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val) rs202118861 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_004793.4(LONP1):c.1985T>G (p.Val662Gly) rs144822855 0.00069
NM_006371.5(CRTAP):c.*3124G>A rs375326992 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710 0.00068
NM_001793.4(CDH3):c.-679T>C rs150247850 0.00068
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_020779.4(WDR35):c.*2620G>A rs545271105 0.00068
NM_080680.3(COL11A2):c.-226C>T rs886061320 0.00068
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu) rs140481649 0.00067
NM_005430.4(WNT1):c.754G>C (p.Gly252Arg) rs200151492 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_001127671.2(LIFR):c.*4405G>C rs191397058 0.00066
NM_002615.7(SERPINF1):c.601G>A (p.Asp201Asn) rs137997656 0.00066
NM_004273.5(CHST3):c.*4450G>C rs183731077 0.00066
NM_004273.5(CHST3):c.*469C>A rs539699501 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711 0.00066
NM_020779.4(WDR35):c.*2797G>A rs528776835 0.00066
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn) rs144336336 0.00066
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) rs146000214 0.00065
NM_004273.5(CHST3):c.*1762C>G rs547917558 0.00065
NM_006031.6(PCNT):c.623G>A (p.Arg208His) rs142318247 0.00065
NM_014762.4(DHCR24):c.*577C>T rs57714270 0.00065
NM_000112.4(SLC26A2):c.*3225T>C rs144502932 0.00064
NM_001024630.4(RUNX2):c.*701C>G rs886061496 0.00064
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser) rs117159093 0.00064
NM_020779.4(WDR35):c.*2619C>T rs565144558 0.00064
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
NM_001174147.2(LMX1B):c.*3731G>C rs566004764 0.00063
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met) rs201180083 0.00063
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917 0.00063
NM_002010.3(FGF9):c.*1471C>T rs569079834 0.00063
NM_003995.4(NPR2):c.1351+10T>C rs199798952 0.00063
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423 0.00063
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014762.4(DHCR24):c.*316T>G rs74072037 0.00063
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_005529.7(HSPG2):c.7954G>A (p.Val2652Met) rs190732238 0.00062
NM_006306.4(SMC1A):c.*2435T>G rs782650092 0.00062
NM_006371.5(CRTAP):c.*4459C>A rs560001702 0.00062
NM_021922.3(FANCE):c.-126T>A rs930863473 0.00062
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala) rs201002566 0.00061
NM_001104631.2(PDE4D):c.*5295G>T rs143961299 0.00061
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr) rs138998777 0.00061
NM_001793.5(CDH3):c.-141C>G rs537339409 0.00061
NM_001793.6(CDH3):c.909G>T (p.Met303Ile) rs148535251 0.00061
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_002335.4(LRP5):c.291C>T (p.Ala97=) rs146667935 0.00061
NM_002615.7(SERPINF1):c.15G>T (p.Val5=) rs139841572 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_002693.3(POLG):c.*63A>G rs552236933 0.00061
NM_006306.4(SMC1A):c.*488A>G rs956422392 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe) rs139437119 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) rs587778335 0.00061
NM_032444.4(SLX4):c.339T>C (p.Ser113=) rs144326379 0.00061
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_000112.4(SLC26A2):c.*3307A>G rs557854258 0.00060
NM_000112.4(SLC26A2):c.-162T>C rs564087874 0.00060
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala) rs142570406 0.00059
NM_000112.4(SLC26A2):c.*3262T>C rs545457852 0.00059
NM_000493.4(COL10A1):c.*318A>T rs566235360 0.00059
NM_001024630.4(RUNX2):c.*2619A>G rs554964716 0.00059
NM_001174147.2(LMX1B):c.*4206G>A rs762728003 0.00059
NM_012463.4(ATP6V0A2):c.*1599C>T rs534414817 0.00059
NM_015139.3(SLC35D1):c.508A>G (p.Ile170Val) rs1407589659 0.00059
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) rs141268133 0.00059
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp) rs144273492 0.00059
NM_000942.4(PPIB):c.-94C>G rs369957382 0.00058
NM_001127671.2(LIFR):c.*1779A>G rs533737306 0.00058
NM_002734.5(PRKAR1A):c.*2197G>A rs533508012 0.00058
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288 0.00058
NM_006371.5(CRTAP):c.*2456T>G rs566327751 0.00058
NM_014140.4(SMARCAL1):c.-114G>A rs561221026 0.00058
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val) rs139383231 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_031296.3(RAB33B):c.*2391C>T rs568714042 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 0.00057
NM_001127671.2(LIFR):c.*2042A>G rs551424232 0.00057
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416 0.00057
NM_002734.5(PRKAR1A):c.-16C>A rs886053305 0.00057
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_001113378.1(FANCI):c.-90T>C rs559714713 0.00056
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) rs148664975 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser) rs145048208 0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_022356.4(P3H1):c.727C>T (p.Arg243Cys) rs146982397 0.00056
NM_032043.3(BRIP1):c.*2070G>A rs764258526 0.00056
NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu) rs200569129 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000136.3(FANCC):c.*1339C>T rs144155068 0.00055
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) rs73033442 0.00055
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_004239.4(TRIP11):c.9C>T (p.Ser3=) rs148398142 0.00055
NM_006306.4(SMC1A):c.*4382A>G rs906340789 0.00055
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro) rs200243989 0.00055
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_001130144.3(LTBP3):c.457G>A (p.Gly153Ser) rs373381192 0.00054
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu) rs150615481 0.00054
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_001361.5(DHODH):c.*936T>C rs763009216 0.00053
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_002427.4(MMP13):c.1315+15T>C rs373735518 0.00053
NM_002615.7(SERPINF1):c.644-4C>T rs199977856 0.00053
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_004273.5(CHST3):c.-51G>A rs202050418 0.00053
NM_005529.7(HSPG2):c.7956G>A (p.Val2652=) rs145265774 0.00053
NM_006371.5(CRTAP):c.*4857A>C rs540853691 0.00053
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) rs146325649 0.00053
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly) rs139946652 0.00053
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_032043.3(BRIP1):c.*2667C>T rs373156872 0.00053
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser) rs143812636 0.00052
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761 0.00052
NM_020436.5(SALL4):c.541G>A (p.Val181Met) rs139382539 0.00052
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly) rs140499872 0.00052
NM_023110.3(FGFR1):c.-717C>T rs772480875 0.00052
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile) rs145533919 0.00052
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000942.5(PPIB):c.*14C>A rs201974607 0.00051
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_001113525.2(ZNF276):c.1475-142T>C rs55794507 0.00051
NM_001353214.3(DYM):c.-154G>T rs547563112 0.00051
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896 0.00051
NM_001852.4(COL9A2):c.*67A>G rs553963794 0.00051
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) rs140534765 0.00051
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_014762.4(DHCR24):c.463G>A (p.Val155Met) rs138933459 0.00051
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_022166.4(XYLT1):c.2502G>C (p.Glu834Asp) rs145244421 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_023110.3(FGFR1):c.*203G>A rs750732571 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_000942.5(PPIB):c.-9C>G rs367616150 0.00050
NM_001174147.2(LMX1B):c.*1754C>T rs886063434 0.00050
NM_002335.4(LRP5):c.2046T>C (p.Phe682=) rs61740517 0.00050
NM_006306.4(SMC1A):c.*4443G>A rs782630117 0.00050
NM_006306.4(SMC1A):c.*5355G>A rs782143840 0.00050
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_002449.5(MSX2):c.*363A>G rs376258231 0.00049
NM_002734.5(PRKAR1A):c.*893G>C rs186568426 0.00049
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) rs137938779 0.00049
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.7158+11G>A rs374680668 0.00049
NM_006306.4(SMC1A):c.*2948G>T rs183355603 0.00049
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
NM_001361.5(DHODH):c.*144G>A rs144226636 0.00048
NM_001361.5(DHODH):c.804C>T (p.Ala268=) rs374538940 0.00048
NM_002010.3(FGF9):c.*56C>T rs192733031 0.00048
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004608.4(TBX6):c.699G>C (p.Trp233Cys) rs61738521 0.00048
NM_006371.5(CRTAP):c.*2956G>A rs547128745 0.00048
NM_006371.5(CRTAP):c.*4601T>C rs528767183 0.00048
NM_006371.5(CRTAP):c.*4994C>T rs760019010 0.00048
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu) rs138667252 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000942.5(PPIB):c.249+12G>A rs202059751 0.00047
NM_001040167.2(LFNG):c.482-3C>T rs199745512 0.00047
NM_001127671.2(LIFR):c.*4024G>A rs140501581 0.00047
NM_001130144.3(LTBP3):c.3233C>T (p.Pro1078Leu) rs201735019 0.00047
NM_004252.5(NHERF1):c.657C>G (p.Ile219Met) rs147104235 0.00047
NM_004629.1(FANCG):c.-488G>A rs752617227 0.00047
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met) rs143523507 0.00047
NM_006031.6(PCNT):c.2610-8T>C rs377164652 0.00047
NM_022166.4(XYLT1):c.188C>G (p.Pro63Arg) rs1028782929 0.00047
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_182943.3(PLOD2):c.*501C>T rs904592942 0.00047
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_001142784.3(IL11RA):c.343C>T (p.Arg115Cys) rs200580340 0.00046
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_003118.4(SPARC):c.157G>A (p.Gly53Arg) rs146500464 0.00046
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val) rs369815468 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met) rs145353518 0.00046
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg) rs145909403 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) rs143250090 0.00046
NM_203486.3(DLL3):c.805G>A (p.Gly269Arg) rs139297205 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
NM_000112.4(SLC26A2):c.-40G>A rs532461120 0.00045
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001127671.2(LIFR):c.*4414G>A rs542094343 0.00045
NM_001174147.2(LMX1B):c.*128G>A rs540930895 0.00045
NM_001361.5(DHODH):c.890G>A (p.Arg297His) rs200181357 0.00045
NM_002449.5(MSX2):c.*1064A>G rs189444818 0.00045
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln) rs575720246 0.00045
NM_020297.4(ABCC9):c.75T>C (p.Phe25=) rs201972673 0.00045
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_022725.4(FANCF):c.633G>T (p.Gln211His) rs146975768 0.00045
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg) rs139865448 0.00045
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) rs200107989 0.00044
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_001174147.2(LMX1B):c.*3891G>A rs534775990 0.00044
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp) rs147724274 0.00044
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_002734.5(PRKAR1A):c.-53C>T rs886053304 0.00044
NM_003722.5(TP63):c.*1959A>T rs527726173 0.00044
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 0.00044
NM_021939.4(FKBP10):c.1290C>T (p.Leu430=) rs143450797 0.00044
NM_022166.4(XYLT1):c.2338G>A (p.Val780Met) rs181524912 0.00044
NM_031296.3(RAB33B):c.*425T>C rs368965362 0.00044
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678 0.00044
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile) rs150460384 0.00044
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00043
NM_001015880.2(PAPSS2):c.1491+3G>A rs375537841 0.00043
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) rs148101195 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) rs145091234 0.00043
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 0.00043
NM_006031.6(PCNT):c.4563+11G>A rs370423096 0.00043
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) rs143671774 0.00043
NM_006031.6(PCNT):c.9968-3C>T rs182378192 0.00043
NM_016004.5(IFT52):c.157G>A (p.Val53Met) rs137979762 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_021939.4(FKBP10):c.*549G>A rs757353571 0.00043
NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu) rs143159780 0.00043
NM_025132.4(WDR19):c.*106T>G rs147600266 0.00043
NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr) rs17136464 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val) rs144606459 0.00042
NM_001127671.2(LIFR):c.263G>A (p.Arg88His) rs61751711 0.00042
NM_002335.4(LRP5):c.1585-9G>A rs202067798 0.00042
NM_003052.5(SLC34A1):c.*331A>G rs773037239 0.00042
NM_003995.4(NPR2):c.*270A>T rs61758534 0.00042
NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys) rs1035057882 0.00042
NM_006265.3(RAD21):c.1617A>G (p.Glu539=) rs138040512 0.00042
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_020812.4(DOCK6):c.5216A>T (p.His1739Leu) rs200792145 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000136.3(FANCC):c.*97dup rs1057515705 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_001024630.4(RUNX2):c.*2382G>A rs561705802 0.00041
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_001104631.2(PDE4D):c.*403G>A rs752738157 0.00041
NM_001793.4(CDH3):c.-634_-633insG rs886052224 0.00041
NM_001852.4(COL9A2):c.*370G>A rs548912125 0.00041
NM_003052.5(SLC34A1):c.-68G>A rs774774202 0.00041
NM_003722.5(TP63):c.*803G>A rs544230654 0.00041
NM_003995.4(NPR2):c.90G>A (p.Val30=) rs56036598 0.00041
NM_004836.7(EIF2AK3):c.*363_*364del rs533135276 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334 0.00041
NM_006182.4(DDR2):c.-106G>T rs542849168 0.00041
NM_014762.4(DHCR24):c.-11G>A rs368314999 0.00041
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala) rs142747831 0.00041
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu) rs150216454 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_032444.4(SLX4):c.*882C>T rs578011999 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe) rs190937193 0.00041
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) rs138543824 0.00040
NM_006306.4(SMC1A):c.*5489G>T rs1007398058 0.00040
NM_133433.4(NIPBL):c.*334G>A rs181989563 0.00040
NM_000088.4(COL1A1):c.-66G>A rs565562045 0.00039
NM_000136.3(FANCC):c.*2296G>A rs561975553 0.00039
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly) rs925811677 0.00039
NM_001011658.4(TRAPPC2):c.*1032T>C rs1412886464 0.00039
NM_001015880.2(PAPSS2):c.194A>G (p.Tyr65Cys) rs145923739 0.00039
NM_001018115.3(FANCD2):c.4281+355A>G rs770674504 0.00039
NM_001039958.2(MESP2):c.787C>G (p.Gln263Glu) rs199662104 0.00039
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001793.4(CDH3):c.-635_-634insG rs886052222 0.00039
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_006371.5(CRTAP):c.*225G>C rs886058347 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser) rs201382399 0.00039
NM_025132.4(WDR19):c.*152G>A rs533059483 0.00039
NM_032444.4(SLX4):c.*102G>A rs531417263 0.00039
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001130144.3(LTBP3):c.485G>C (p.Gly162Ala) rs371177340 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496 0.00038
NM_004239.4(TRIP11):c.-333G>A rs559266963 0.00038
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
NM_006031.6(PCNT):c.1761+13G>A rs368579694 0.00038
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_012463.4(ATP6V0A2):c.*2759T>C rs550259483 0.00038
NM_023110.3(FGFR1):c.*391C>T rs764328455 0.00038
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888 0.00038
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_182943.3(PLOD2):c.*683C>T rs566705549 0.00038
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479 0.00037
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001395891.1(CLASP1):c.196-620C>T rs377619732 0.00037
NM_002427.4(MMP13):c.438C>T (p.Ser146=) rs17860530 0.00037
NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=) rs189103460 0.00037
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00037
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_000088.4(COL1A1):c.*1087C>T rs557843360 0.00036
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001039958.2(MESP2):c.*169G>A rs773406154 0.00036
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390 0.00036
NM_001440.4(EXTL3):c.1519G>T (p.Ala507Ser) rs200367738 0.00036
NM_001793.4(CDH3):c.-621G>A rs886052225 0.00036
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) rs146792192 0.00036
NM_006306.4(SMC1A):c.*1961C>T rs986586627 0.00036
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_018062.4(FANCL):c.534A>G (p.Thr178=) rs151181785 0.00036
NM_021939.3(FKBP10):c.-183C>G rs533813401 0.00036
NM_022356.4(P3H1):c.1838+9G>A rs374946028 0.00036
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val) rs566584111 0.00036
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_152281.3(GORAB):c.625C>T (p.Arg209Trp) rs138502097 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_182943.3(PLOD2):c.533G>A (p.Arg178His) rs143513488 0.00036
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer) rs764994176 0.00035
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00035
NM_001793.6(CDH3):c.-36C>T rs373351410 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001852.4(COL9A2):c.*443C>T rs531591616 0.00035
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_004273.5(CHST3):c.*4049C>A rs192320139 0.00035
NM_004273.5(CHST3):c.*4495G>A rs730721 0.00035
NM_004273.5(CHST3):c.*4865C>T rs140500823 0.00035
NM_005445.4(SMC3):c.*304T>G rs755315364 0.00035
NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_006031.6(PCNT):c.9099+13C>T rs376185703 0.00035
NM_006371.5(CRTAP):c.*1637G>C rs538128865 0.00035
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846 0.00035
NM_021922.3(FANCE):c.-105C>T rs886061326 0.00035
NM_023110.3(FGFR1):c.*1055C>T rs761124911 0.00035
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_000316.3(PTH1R):c.75+9C>T rs200710310 0.00034
NM_000493.4(COL10A1):c.155-6T>C rs375384269 0.00034
NM_001013693.3(LDLRAD2):c.*572G>A rs752420673 0.00034
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121 0.00034
NM_001040167.2(LFNG):c.100C>A (p.Pro34Thr) rs965725102 0.00034
NM_001104631.2(PDE4D):c.*2003T>C rs577458431 0.00034
NM_001104631.2(PDE4D):c.*2004C>A rs760686759 0.00034
NM_001854.4(COL11A1):c.*809C>T rs143875783 0.00034
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005529.7(HSPG2):c.9710-10G>A rs369434104 0.00034
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg) rs144953114 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_022458.4(LMBR1):c.*1841T>A rs1012360796 0.00034
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_032043.3(BRIP1):c.*380C>T rs556729826 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_182943.3(PLOD2):c.2121+14T>C rs376009508 0.00034
NM_203486.3(DLL3):c.1759-31C>G rs200669115 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_000088.4(COL1A1):c.*631G>A rs569577942 0.00033
NM_002427.4(MMP13):c.509A>C (p.Lys170Thr) rs145243532 0.00033
NM_002734.5(PRKAR1A):c.*722A>G rs555951287 0.00033
NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu) rs979012066 0.00033
NM_004273.5(CHST3):c.*2856G>A rs747937392 0.00033
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_022166.4(XYLT1):c.1764+3G>A rs147978944 0.00033
NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys) rs138860050 0.00033
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe) rs75097996 0.00032
NM_000136.3(FANCC):c.*1495T>G rs41281198 0.00032
NM_000136.3(FANCC):c.*2305G>A rs562465438 0.00032
NM_001113525.2(ZNF276):c.*217A>T rs775549018 0.00032
NM_001127671.2(LIFR):c.*5925C>A rs571064663 0.00032
NM_001353214.3(DYM):c.321G>A (p.Leu107=) rs16950519 0.00032
NM_001854.4(COL11A1):c.489-4T>A rs371357098 0.00032
NM_002010.3(FGF9):c.-37dup rs752566182 0.00032
NM_002010.3(FGF9):c.-777G>T rs567350418 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002449.5(MSX2):c.*1096A>G rs530984915 0.00032
NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn) rs141901506 0.00032
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_005529.7(HSPG2):c.7423G>C (p.Gly2475Arg) rs142601663 0.00032
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342 0.00032
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823 0.00032
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568 0.00032
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val) rs144963695 0.00032
NM_006129.5(BMP1):c.2445C>T (p.Ala815=) rs200867122 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668 0.00032
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg) rs45524646 0.00032
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala) rs138939786 0.00032
NM_031296.3(RAB33B):c.*2327G>A rs755193519 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_000059.4(BRCA2):c.*854T>C rs572993583 0.00031
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=) rs147426418 0.00031
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) rs139181400 0.00031
NM_001159773.2(CANT1):c.147C>T (p.Phe49=) rs371500993 0.00031
NM_001174147.2(LMX1B):c.*3235C>T rs908803074 0.00031
NM_001271938.2(MEGF8):c.4264G>A (p.Val1422Met) rs141221243 0.00031
NM_001278689.2(EOGT):c.50G>A (p.Ser17Asn) rs139168099 0.00031
NM_001854.4(COL11A1):c.-198_-195del rs886044981 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004629.2(FANCG):c.794C>T (p.Ala265Val) rs764992007 0.00031
NM_005529.7(HSPG2):c.10214C>T (p.Thr3405Met) rs141464124 0.00031
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys) rs144511257 0.00031
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) rs202246527 0.00031
NM_006182.4(DDR2):c.720C>T (p.Asp240=) rs141801107 0.00031
NM_015139.3(SLC35D1):c.836A>G (p.Tyr279Cys) rs199585658 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_020779.4(WDR35):c.*1253C>G rs368665906 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_022725.4(FANCF):c.*1094A>G rs544116147 0.00031
NM_023110.3(FGFR1):c.*2057C>T rs556829066 0.00031
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080 0.00031
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_001024630.4(RUNX2):c.*1278T>C rs756225322 0.00030
NM_001113525.2(ZNF276):c.1679G>A (p.Gly560Asp) rs144644592 0.00030
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_002449.5(MSX2):c.*183G>T rs771167296 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser) rs76648342 0.00030
NM_020779.4(WDR35):c.*795C>T rs190700326 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg) rs147284278 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_031296.3(RAB33B):c.*2130G>A rs138541013 0.00030
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_182943.3(PLOD2):c.*809T>C rs540984133 0.00030
NM_182943.3(PLOD2):c.1744-11A>G rs376704588 0.00030
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806 0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000141.5(FGFR2):c.-165G>A rs886046766 0.00029
NM_001018115.3(FANCD2):c.1134+8T>G rs373232961 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001018115.3(FANCD2):c.4281+597C>T rs548255173 0.00029
NM_001113525.2(ZNF276):c.*211C>G rs575606938 0.00029
NM_001159773.2(CANT1):c.-22-34C>G rs886053528 0.00029
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) rs140112462 0.00029
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477 0.00029
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys) rs143215498 0.00029
NM_001286577.2(C2CD3):c.3650C>G (p.Ala1217Gly) rs144597224 0.00029
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_002010.3(FGF9):c.*1360C>T rs564490885 0.00029
NM_002010.3(FGF9):c.*435C>T rs886050052 0.00029
NM_002427.4(MMP13):c.968C>T (p.Thr323Met) rs185832993 0.00029
NM_003052.5(SLC34A1):c.*239C>A rs768911630 0.00029
NM_004239.4(TRIP11):c.-349T>G rs753241449 0.00029
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) rs143392370 0.00029
NM_004273.5(CHST3):c.980A>C (p.Asp327Ala) rs573403001 0.00029
NM_004282.4(BAG2):c.*3238G>A rs749068215 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.4584+3G>A rs201042435 0.00029
NM_006031.6(PCNT):c.4584+9G>T rs202096874 0.00029
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745 0.00029
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00029
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842 0.00029
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336 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_020812.4(DOCK6):c.3052C>T (p.Arg1018Trp) rs200261463 0.00029
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys) rs146151355 0.00029
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_031296.3(RAB33B):c.*780T>C rs535223457 0.00029
NM_032043.3(BRIP1):c.-237dup rs112243287 0.00029
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr) rs749920386 0.00029
NM_032444.4(SLX4):c.*311G>A rs749668095 0.00029
NM_032444.4(SLX4):c.2210G>A (p.Arg737His) rs146901714 0.00029
NM_000088.4(COL1A1):c.*836C>T rs527358320 0.00028
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe) rs61995938 0.00028
NM_001174147.2(LMX1B):c.*3719G>A rs765341524 0.00028
NM_001361.5(DHODH):c.518-11G>A rs201023112 0.00028
NM_002427.4(MMP13):c.*264C>T rs555759372 0.00028
NM_003995.4(NPR2):c.697C>T (p.Leu233=) rs61758518 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp) rs146286188 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=) rs140912550 0.00028
NM_006129.5(BMP1):c.*525G>T rs534157555 0.00028
NM_006306.4(SMC1A):c.*578C>T rs782042924 0.00028
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr) rs753304968 0.00028
NM_032043.3(BRIP1):c.*1868G>T rs184666432 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His) rs142909885 0.00028
NM_000136.3(FANCC):c.*431T>C rs550009657 0.00027
NM_000141.5(FGFR2):c.*921G>A rs185617859 0.00027
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_001013693.3(LDLRAD2):c.*284C>T rs549986026 0.00027
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu) rs112083274 0.00027
NM_004239.4(TRIP11):c.202-11T>G rs561503305 0.00027
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=) rs144342729 0.00027
NM_006031.6(PCNT):c.9099+14G>A rs370266308 0.00027
NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe) rs201303856 0.00027
NM_006371.5(CRTAP):c.*3788G>A rs772312868 0.00027
NM_014762.4(DHCR24):c.*2394A>C rs548629632 0.00027
NM_020779.4(WDR35):c.*1413C>T rs567295822 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_032444.4(SLX4):c.-416G>A rs528320603 0.00027
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000112.4(SLC26A2):c.*1427G>A rs760907801 0.00026
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000942.5(PPIB):c.*80C>T rs540855873 0.00026
NM_001015880.2(PAPSS2):c.1780G>A (p.Glu594Lys) rs201465674 0.00026
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser) rs144332316 0.00026
NM_001024630.4(RUNX2):c.*3047A>C rs182124295 0.00026
NM_001173467.3(SP7):c.839G>T (p.Arg280Leu) rs200582631 0.00026
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) rs150974461 0.00026
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=) rs375913094 0.00026
NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln) rs184913582 0.00026
NM_001854.4(COL11A1):c.-50A>G rs369810404 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_002449.5(MSX2):c.*601C>T rs886060430 0.00026
NM_002734.5(PRKAR1A):c.-25C>T rs546338099 0.00026
NM_003722.5(TP63):c.*966C>T rs539983621 0.00026
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095 0.00026
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) rs140106241 0.00026
NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu) rs144217842 0.00026
NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=) rs202067055 0.00026
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=) rs370099497 0.00026
NM_006129.5(BMP1):c.2847G>A (p.Ser949=) rs149176169 0.00026
NM_012463.4(ATP6V0A2):c.*2198C>T rs886049073 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_013432.5(TONSL):c.4047G>T (p.Arg1349Ser) rs561356988 0.00026
NM_014762.4(DHCR24):c.615C>T (p.Ser205=) rs147213053 0.00026
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val) rs140103426 0.00026
NM_017653.6(DYM):c.1461-8T>G rs374658638 0.00026
NM_018475.5(TMEM165):c.52C>A (p.Leu18Met) rs756276628 0.00026
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) rs148017562 0.00026
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys) rs146065064 0.00026
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) rs758238449 0.00026
NM_021939.3(FKBP10):c.-207C>T rs782363137 0.00026
NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met) rs754790920 0.00026
NM_022725.3(FANCF):c.-31T>C rs202069513 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp) rs146274789 0.00026
NR_003051.3(RMRP):n.-34G>C rs775290179 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597 0.00025
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_001011658.4(TRAPPC2):c.*1486G>A rs187740735 0.00025
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_001104631.2(PDE4D):c.*5190A>G rs886060701 0.00025
NM_001130144.3(LTBP3):c.1100A>G (p.His367Arg) rs142692132 0.00025
NM_001130144.3(LTBP3):c.3859G>A (p.Gly1287Ser) rs536370608 0.00025
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu) rs368693886 0.00025
NM_001286577.2(C2CD3):c.3742C>T (p.Arg1248Cys) rs139665472 0.00025
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_001793.4(CDH3):c.-983A>G rs151123159 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=) rs138254005 0.00025
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004273.5(CHST3):c.*3391A>C rs564572994 0.00025
NM_004273.5(CHST3):c.*4162A>G rs551591119 0.00025
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_006182.4(DDR2):c.1389T>C (p.Ser463=) rs141476528 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) rs141729590 0.00025
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp) rs556217576 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys) rs140079753 0.00025
NM_203486.3(DLL3):c.1759-53A>G rs762786941 0.00025
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000089.4(COL1A2):c.639+19A>T rs183516726 0.00024
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) rs557483957 0.00024
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) rs138646765 0.00024
NM_000493.4(COL10A1):c.-16+7G>A rs768097903 0.00024
NM_001013693.3(LDLRAD2):c.*420G>A rs754815327 0.00024
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met) rs372574627 0.00024
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 0.00024
NM_001113525.2(ZNF276):c.1475-24A>G rs186050933 0.00024
NM_001127671.2(LIFR):c.*1859A>C rs772252918 0.00024
NM_001127671.2(LIFR):c.*1860T>G rs748353397 0.00024
NM_001130144.3(LTBP3):c.864G>T (p.Pro288=) rs201987018 0.00024
NM_001174147.2(LMX1B):c.*355G>T rs886063422 0.00024
NM_001174147.2(LMX1B):c.*4129C>T rs148294658 0.00024
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met) rs372955721 0.00024
NM_001374353.1(GLI2):c.392G>A (p.Arg131His) rs149180414 0.00024
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00024
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_002010.3(FGF9):c.*2965C>T rs181292662 0.00024
NM_002310.6(LIFR):c.-90T>C rs559787973 0.00024
NM_002335.4(LRP5):c.1738G>A (p.Val580Ile) rs149524398 0.00024
NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) rs150008607 0.00024
NM_002734.5(PRKAR1A):c.*1687T>C rs986574420 0.00024
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179 0.00024
NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr) rs142518915 0.00024
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) rs142075650 0.00024
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser) rs113605039 0.00024
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004260.4(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405 0.00024
NM_004260.4(RECQL4):c.2149G>A (p.Ala717Thr) rs970075256 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) rs141304187 0.00024
NM_006129.5(BMP1):c.1623C>T (p.Ala541=) rs181639729 0.00024
NM_006182.4(DDR2):c.476T>C (p.Ile159Thr) rs145611112 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_012463.4(ATP6V0A2):c.*1803C>T rs117646592 0.00024
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile) rs148154311 0.00024
NM_021939.4(FKBP10):c.*508G>A rs1022964355 0.00024
NM_022039.4(FBXW4):c.192G>A (p.Thr64=) rs886046647 0.00024
NM_022167.4(XYLT2):c.1708G>A (p.Ala570Thr) rs199816555 0.00024
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087 0.00024
NM_022725.4(FANCF):c.153T>A (p.His51Gln) rs142247452 0.00024
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) rs146219377 0.00024
NM_023110.3(FGFR1):c.*2391A>G rs185729862 0.00024
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_031296.2(RAB33B):c.-193G>T rs886059075 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu) rs372128800 0.00024
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile) rs147315419 0.00024
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 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_152281.3(GORAB):c.*1039A>G rs777070030 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_203486.3(DLL3):c.1758+57C>T rs147582946 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000112.4(SLC26A2):c.*2720C>T rs557400349 0.00023
NM_000112.4(SLC26A2):c.*4462T>G rs999338434 0.00023
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001104631.2(PDE4D):c.*414T>C rs1030455444 0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171 0.00023
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) rs140416653 0.00023
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_005529.7(HSPG2):c.2685+6C>T rs189296705 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005529.7(HSPG2):c.8025+20C>T rs146363738 0.00023
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) rs142080697 0.00023
NM_006371.5(CRTAP):c.*3978T>C rs555292232 0.00023
NM_006371.5(CRTAP):c.373G>C (p.Gly125Arg) rs777442040 0.00023
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_020436.5(SALL4):c.2260G>A (p.Val754Met) rs199607966 0.00023
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys) rs141190788 0.00023
NM_021939.4(FKBP10):c.491C>T (p.Pro164Leu) rs117897485 0.00023
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) rs372214186 0.00023
NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln) rs141079587 0.00023
NM_023110.3(FGFR1):c.-263G>C rs974672416 0.00023
NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) rs371561776 0.00023
NM_032043.3(BRIP1):c.*3465A>T rs539412199 0.00023
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_001039958.2(MESP2):c.1017C>T (p.Pro339=) rs370227491 0.00022
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met) rs191202700 0.00022
NM_001113525.2(ZNF276):c.*1862C>T rs776077648 0.00022
NM_001113525.2(ZNF276):c.*209G>A rs556325258 0.00022
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538 0.00022
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) rs373197206 0.00022
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) rs773943113 0.00022
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797 0.00022
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp) rs201884798 0.00022
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys) rs143210045 0.00022
NM_005529.7(HSPG2):c.4551G>A (p.Gly1517=) rs142288625 0.00022
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu) rs781468861 0.00022
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642 0.00022
NM_006371.5(CRTAP):c.*1460C>T rs768618170 0.00022
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228 0.00022
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) rs147415811 0.00022
NM_021625.5(TRPV4):c.*99C>T rs552478250 0.00022
NM_021926.4(ALX4):c.976G>A (p.Asp326Asn) rs186244229 0.00022
NM_022166.4(XYLT1):c.1807G>A (p.Val603Met) rs187270026 0.00022
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.1838+5G>T rs377368053 0.00022
NM_022356.4(P3H1):c.2155G>A (p.Glu719Lys) rs372407655 0.00022
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro) rs192534185 0.00022
NM_031296.3(RAB33B):c.*764G>A rs886059081 0.00022
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala) rs149527560 0.00022
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser) rs142597040 0.00022
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
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_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000112.4(SLC26A2):c.*3435C>G rs189916904 0.00021
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465 0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00021
NM_001130144.3(LTBP3):c.764C>A (p.Pro255His) rs200322257 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_001159773.2(CANT1):c.*1153C>T rs1027724116 0.00021
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met) rs201181440 0.00021
NM_001361.5(DHODH):c.753C>A (p.Val251=) rs373893426 0.00021
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) rs80358317 0.00021
NM_002427.4(MMP13):c.935A>G (p.His312Arg) rs142601143 0.00021
NM_002734.5(PRKAR1A):c.*1346A>G rs545417998 0.00021
NM_002734.5(PRKAR1A):c.*233C>T rs531560526 0.00021
NM_002734.5(PRKAR1A):c.*384C>T rs142203044 0.00021
NM_004260.4(RECQL4):c.944C>T (p.Ser315Leu) rs376493359 0.00021
NM_004273.5(CHST3):c.*1463G>T rs529839491 0.00021
NM_004273.5(CHST3):c.*3022A>T rs145507314 0.00021
NM_004273.5(CHST3):c.*4884C>G rs886047185 0.00021
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met) rs777841149 0.00021
NM_006129.5(BMP1):c.1927-13G>A rs371954727 0.00021
NM_006306.4(SMC1A):c.*5946C>T rs972532010 0.00021
NM_006371.5(CRTAP):c.*1431C>T rs543450336 0.00021
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012463.4(ATP6V0A2):c.*271A>G rs886049064 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_015139.3(SLC35D1):c.586G>A (p.Val196Ile) rs148581417 0.00021
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_020779.4(WDR35):c.*1370G>A rs1039776865 0.00021
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro) rs950301098 0.00021
NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr) rs200476624 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_022166.4(XYLT1):c.694G>C (p.Asp232His) rs150214300 0.00021
NM_023110.3(FGFR1):c.*1711G>A rs567642271 0.00021
NM_023110.3(FGFR1):c.-270G>A rs578030717 0.00021
NM_023110.3(FGFR1):c.-741A>G rs971464879 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_032444.4(SLX4):c.-271G>A rs149773885 0.00021
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_152281.3(GORAB):c.941C>T (p.Ala314Val) rs187680628 0.00021
NM_203486.3(DLL3):c.1759-162A>G rs886054434 0.00021
NR_003051.3(RMRP):n.270T>C rs551655682 0.00021
NR_003051.4(RMRP):n.59_60insA rs1053360711 0.00021
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1699-3C>G rs372441627 0.00020
NM_001127671.2(LIFR):c.*984T>C rs558681338 0.00020
NM_001854.4(COL11A1):c.652-13T>G rs776608546 0.00020
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr) rs201882609 0.00020
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00020
NM_020937.4(FANCM):c.504G>C (p.Met168Ile) rs376316183 0.00020
NM_021625.5(TRPV4):c.*500C>T rs929739314 0.00020
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_032043.3(BRIP1):c.*2812A>G rs112375062 0.00020
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 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_000095.3(COMP):c.868-4C>T rs529806631 0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000136.3(FANCC):c.*254G>A rs773331481 0.00019
NM_000136.3(FANCC):c.*476A>T rs756786451 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000141.5(FGFR2):c.-173G>A rs540975865 0.00019
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00019
NM_000942.5(PPIB):c.*154C>T rs574102477 0.00019
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 0.00019
NM_001040167.2(LFNG):c.715C>T (p.Arg239Trp) rs143479850 0.00019
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001104631.2(PDE4D):c.*3863T>C rs866405146 0.00019
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965 0.00019
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) rs554876309 0.00019
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_001113525.2(ZNF276):c.*251C>T rs55859244 0.00019
NM_001113525.2(ZNF276):c.*38C>T rs201817705 0.00019
NM_001127671.2(LIFR):c.*2464C>G rs140583327 0.00019
NM_001127671.2(LIFR):c.*517T>C rs889691332 0.00019
NM_001130144.3(LTBP3):c.2914C>T (p.Pro972Ser) rs148248053 0.00019
NM_001159773.2(CANT1):c.*876G>A rs551101097 0.00019
NM_001173467.3(SP7):c.799C>T (p.Arg267Cys) rs201666834 0.00019
NM_001271938.2(MEGF8):c.4011G>A (p.Thr1337=) rs149716961 0.00019
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=) rs145630132 0.00019
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser) rs373345277 0.00019
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) rs199682518 0.00019
NM_001384732.1(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796 0.00019
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473 0.00019
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_002335.4(LRP5):c.4247C>T (p.Ala1416Val) rs376164225 0.00019
NM_002449.5(MSX2):c.*1233T>C rs989259719 0.00019
NM_002615.7(SERPINF1):c.997+12G>A rs376447025 0.00019
NM_004239.4(TRIP11):c.-24G>A rs199937850 0.00019
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) rs200739251 0.00019
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) rs191280213 0.00019
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met) rs201661055 0.00019
NM_004273.5(CHST3):c.*3565A>G rs151095465 0.00019
NM_004273.5(CHST3):c.*4534G>A rs372116465 0.00019
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met) rs371606894 0.00019
NM_004793.4(LONP1):c.2542G>A (p.Ala848Thr) rs147591431 0.00019
NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg) rs776456569 0.00019
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005515.4(MNX1):c.445G>A (p.Gly149Ser) rs1333052902 0.00019
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp) rs145185113 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916 0.00019
NM_006129.5(BMP1):c.*172A>C rs772766491 0.00019
NM_006129.5(BMP1):c.1044C>T (p.Cys348=) rs149174555 0.00019
NM_006129.5(BMP1):c.239G>A (p.Arg80His) rs73549580 0.00019
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_014140.4(SMARCAL1):c.-164G>A rs767342189 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014822.4(SEC24D):c.1790A>T (p.Asp597Val) rs375796795 0.00019
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly) rs139352103 0.00019
NM_020812.4(DOCK6):c.2629C>T (p.Arg877Cys) rs199553475 0.00019
NM_021922.3(FANCE):c.-197C>T rs45570533 0.00019
NM_021922.3(FANCE):c.-19G>C rs13215706 0.00019
NM_021922.3(FANCE):c.1114-4G>A rs368422520 0.00019
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met) rs147390386 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_032444.4(SLX4):c.*374C>T rs369843531 0.00019
NM_032444.4(SLX4):c.-21G>C rs200717103 0.00019
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met) rs377440877 0.00019
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg) rs544935776 0.00019
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val) rs372921011 0.00019
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_080680.3(COL11A2):c.4751-12C>G rs921581176 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_213599.3(ANO5):c.797C>T (p.Pro266Leu) rs745908606 0.00019
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
NM_001024630.4(RUNX2):c.*3218A>G rs554368801 0.00018
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu) rs377023417 0.00018
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001130144.3(LTBP3):c.89T>G (p.Leu30Arg) rs966781991 0.00018
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398 0.00018
NM_002381.5(MATN3):c.671G>A (p.Arg224Gln) rs201491595 0.00018
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_004260.4(RECQL4):c.3521C>T (p.Ala1174Val) rs587778648 0.00018
NM_004273.5(CHST3):c.*1726C>T rs573032793 0.00018
NM_004793.4(LONP1):c.2203G>A (p.Val735Met) rs200317240 0.00018
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00018
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246 0.00018
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_006129.5(BMP1):c.*339T>C rs535713678 0.00018
NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala) rs150161793 0.00018
NM_006182.4(DDR2):c.*16G>A rs199644864 0.00018
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_018062.4(FANCL):c.142C>G (p.Leu48Val) rs148516173 0.00018
NM_018062.4(FANCL):c.580A>G (p.Ile194Val) rs542006141 0.00018
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys) rs148510977 0.00018
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu) rs149362820 0.00018
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) rs149078926 0.00018
NM_213599.3(ANO5):c.1747G>A (p.Val583Ile) rs375225649 0.00018
NM_213599.3(ANO5):c.553G>C (p.Glu185Gln) rs140381407 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000088.4(COL1A1):c.*120T>C rs773014749 0.00017
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_001011658.4(TRAPPC2):c.*752A>G rs1057515791 0.00017
NM_001013693.3(LDLRAD2):c.*1081C>T rs568643216 0.00017
NM_001040167.2(LFNG):c.284C>T (p.Ala95Val) rs765904263 0.00017
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001130144.3(LTBP3):c.1158T>A (p.Ser386Arg) rs200733908 0.00017
NM_001130144.3(LTBP3):c.3281C>T (p.Pro1094Leu) rs773279346 0.00017
NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp) rs148995688 0.00017
NM_001793.6(CDH3):c.*3G>T rs372478072 0.00017
NM_002449.5(MSX2):c.*306G>T rs886060428 0.00017
NM_003052.5(SLC34A1):c.*241C>T rs774564955 0.00017
NM_003995.4(NPR2):c.1572C>T (p.Tyr524=) rs150393424 0.00017
NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met) rs150434192 0.00017
NM_004273.5(CHST3):c.*3272C>T rs539580815 0.00017
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) rs147966644 0.00017
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001 0.00017
NM_006031.6(PCNT):c.9684C>T (p.Gly3228=) rs1128166 0.00017
NM_006371.5(CRTAP):c.*2129A>G rs557919030 0.00017
NM_006371.5(CRTAP):c.*5005G>T rs532876768 0.00017
NM_006371.5(CRTAP):c.761A>G (p.Lys254Arg) rs114245114 0.00017
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro) rs62178625 0.00017
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) rs138274490 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_021922.3(FANCE):c.-167C>T rs911947663 0.00017
NM_022356.4(P3H1):c.1339C>T (p.Arg447Trp) rs150951532 0.00017
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp) rs758789462 0.00017
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 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_147127.5(EVC2):c.1003C>T (p.Arg335Trp) rs148884226 0.00017
NM_182943.3(PLOD2):c.-95G>A rs368041250 0.00017
NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe) rs572290101 0.00017
NR_003051.4(RMRP):n.92A>C rs752723025 0.00017
NM_000088.4(COL1A1):c.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_000089.3(COL1A2):c.-428G>A rs753974789 0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.1226-13G>C rs377159744 0.00016
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000136.3(FANCC):c.*483A>G rs548064261 0.00016
NM_000396.4(CTSK):c.812G>A (p.Ser271Asn) rs183135762 0.00016
NM_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_000557.5(GDF5):c.-30C>A rs375024998 0.00016
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=) rs370078641 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001104631.2(PDE4D):c.*1268T>C rs886060709 0.00016
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) rs146040966 0.00016
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met) rs374363189 0.00016
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) rs150231327 0.00016
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg) rs555904350 0.00016
NM_001130144.3(LTBP3):c.476G>A (p.Ser159Asn) rs766148760 0.00016
NM_001159773.2(CANT1):c.-146-15C>T rs886053531 0.00016
NM_001174147.2(LMX1B):c.*2023C>T rs574903734 0.00016
NM_001174147.2(LMX1B):c.*4123C>T rs906873628 0.00016
NM_001174147.2(LMX1B):c.*574C>T rs765510482 0.00016
NM_001271938.2(MEGF8):c.1877G>A (p.Arg626Gln) rs773886995 0.00016
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu) rs562936594 0.00016
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val) rs142042363 0.00016
NM_001361.5(DHODH):c.*980A>G rs766237954 0.00016
NM_001361.5(DHODH):c.570C>T (p.Ala190=) rs149123373 0.00016
NM_001374353.1(GLI2):c.2191G>A (p.Gly731Arg) rs146944207 0.00016
NM_001374353.1(GLI2):c.221A>G (p.His74Arg) rs377700501 0.00016
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile) rs145160881 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu) rs145207010 0.00016
NM_001852.4(COL9A2):c.942G>A (p.Thr314=) rs144615318 0.00016
NM_001854.4(COL11A1):c.*426A>G rs776415474 0.00016
NM_002010.3(FGF9):c.-703C>T rs370588961 0.00016
NM_002381.5(MATN3):c.*660G>A rs766531074 0.00016
NM_002381.5(MATN3):c.185C>T (p.Ala62Val) rs920755164 0.00016
NM_002449.5(MSX2):c.*647C>T rs751312423 0.00016
NM_002615.7(SERPINF1):c.913C>G (p.Leu305Val) rs146939364 0.00016
NM_003052.5(SLC34A1):c.*301T>C rs769685421 0.00016
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) rs375562152 0.00016
NM_004260.4(RECQL4):c.92T>G (p.Val31Gly) rs904809747 0.00016
NM_004273.5(CHST3):c.*1664G>C rs375960396 0.00016
NM_004273.5(CHST3):c.*2843_*2844del rs886047178 0.00016
NM_004273.5(CHST3):c.*3131G>A rs577353046 0.00016
NM_004273.5(CHST3):c.*4869G>A rs773240688 0.00016
NM_004282.4(BAG2):c.*3590C>T rs773395495 0.00016
NM_004282.4(BAG2):c.*4737A>C rs778774458 0.00016
NM_004282.4(BAG2):c.*5140G>C rs541307925 0.00016
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) rs146949180 0.00016
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005816.5(CD96):c.*172G>T rs886057770 0.00016
NM_006031.6(PCNT):c.*179G>A rs1043813292 0.00016
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638 0.00016
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn) rs142402562 0.00016
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu) rs548287016 0.00016
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) rs138506849 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg) rs747647379 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_006129.5(BMP1):c.1624G>A (p.Val542Ile) rs753963317 0.00016
NM_006129.5(BMP1):c.717G>A (p.Glu239=) rs149856199 0.00016
NM_006182.4(DDR2):c.672-9C>A rs376919678 0.00016
NM_006371.5(CRTAP):c.*50C>G rs371999646 0.00016
NM_006371.5(CRTAP):c.654C>T (p.Asn218=) rs144486582 0.00016
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu) rs147140948 0.00016
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys) rs888502576 0.00016
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) rs138803099 0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_018475.5(TMEM165):c.351A>G (p.Ala117=) rs747450377 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_020779.4(WDR35):c.*1062G>A rs778834686 0.00016
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys) rs756006241 0.00016
NM_020812.4(DOCK6):c.6128G>A (p.Arg2043Gln) rs746117967 0.00016
NM_020937.4(FANCM):c.2003-3T>C rs777799598 0.00016
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile) rs374402732 0.00016
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe) rs185230199 0.00016
NM_022167.4(XYLT2):c.1998G>A (p.Leu666=) rs140443495 0.00016
NM_022356.4(P3H1):c.1232G>A (p.Arg411Gln) rs148636462 0.00016
NM_023110.3(FGFR1):c.*345T>A rs751699851 0.00016
NM_031296.2(RAB33B):c.-342T>C rs886059073 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile) rs202148391 0.00016
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192 0.00016
NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys) rs200310925 0.00016
NM_032444.4(SLX4):c.4649G>A (p.Arg1550Gln) rs369852048 0.00016
NM_032444.4(SLX4):c.653G>C (p.Arg218Thr) rs756079504 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) rs560785308 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_152281.3(GORAB):c.920T>G (p.Leu307Ter) rs145659887 0.00016
NM_181486.4(TBX5):c.*795G>T rs886048991 0.00016
NM_203486.3(DLL3):c.939G>A (p.Gly313=) rs150100958 0.00016
NR_003051.4(RMRP):n.150C>T rs977992022 0.00016
NR_003051.4(RMRP):n.160A>G rs535595484 0.00016
NM_000059.4(BRCA2):c.*390A>G rs56003538 0.00015
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000112.4(SLC26A2):c.*1935T>A rs537754833 0.00015
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000135.4(FANCA):c.79+10C>T rs573174362 0.00015
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) rs138587722 0.00015
NM_001039958.2(MESP2):c.597A>G (p.Gly199=) rs778503063 0.00015
NM_001104631.2(PDE4D):c.*310C>A rs558677290 0.00015
NM_001127671.2(LIFR):c.*6380G>C rs963712767 0.00015
NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys) rs61751712 0.00015
NM_001130144.3(LTBP3):c.3238G>A (p.Glu1080Lys) rs907483608 0.00015
NM_001159773.2(CANT1):c.-23+39G>A rs886053529 0.00015
NM_001271938.2(MEGF8):c.351+4A>G rs753271808 0.00015
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His) rs200080112 0.00015
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln) rs200495440 0.00015
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg) rs775399423 0.00015
NM_001844.5(COL2A1):c.*158C>A rs867067070 0.00015
NM_002010.3(FGF9):c.*736C>T rs886050055 0.00015
NM_002734.5(PRKAR1A):c.*724T>A rs746409603 0.00015
NM_003995.4(NPR2):c.2644G>A (p.Val882Ile) rs55700371 0.00015
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) rs201417947 0.00015
NM_004260.4(RECQL4):c.2285A>G (p.Gln762Arg) rs543333975 0.00015
NM_004260.4(RECQL4):c.2907C>G (p.Cys969Trp) rs772780752 0.00015
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583 0.00015
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660 0.00015
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn) rs189870832 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly) rs377047502 0.00015
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098 0.00015
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) rs376197752 0.00015
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln) rs150531859 0.00015
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_032043.3(BRIP1):c.*3827T>C rs1377513104 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_080680.3(COL11A2):c.*822C>G rs536130072 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_152281.3(GORAB):c.*102G>A rs555373548 0.00015
NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) rs781688970 0.00015
NM_203486.3(DLL3):c.452G>A (p.Arg151His) rs768310008 0.00015
NM_203486.3(DLL3):c.564G>T (p.Thr188=) rs767676342 0.00015
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000112.4(SLC26A2):c.*2978A>G rs181164665 0.00014
NM_000112.4(SLC26A2):c.*3165G>A rs185603342 0.00014
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095 0.00014
NM_000135.4(FANCA):c.-18G>A rs886038245 0.00014
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000136.3(FANCC):c.*249C>T rs1046795121 0.00014
NM_000141.5(FGFR2):c.-622G>A rs886046768 0.00014
NM_000142.5(FGFR3):c.616-6G>A rs17883400 0.00014
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_001015880.2(PAPSS2):c.1291C>T (p.Arg431Cys) rs529057056 0.00014
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=) rs61751577 0.00014
NM_001025295.3(IFITM5):c.68C>T (p.Ala23Val) rs552104680 0.00014
NM_001039958.2(MESP2):c.*318G>A rs989092590 0.00014
NM_001040167.2(LFNG):c.1078C>T (p.Arg360Cys) rs763938391 0.00014
NM_001104631.2(PDE4D):c.*58G>A rs963578789 0.00014
NM_001113378.2(FANCI):c.-10A>G rs372076895 0.00014
NM_001114636.1(FANCL):c.-26T>A rs367703311 0.00014
NM_001127671.2(LIFR):c.*4618T>C rs576106981 0.00014
NM_001127671.2(LIFR):c.562-12G>A rs551186831 0.00014
NM_001130144.3(LTBP3):c.2380G>A (p.Val794Met) rs144309426 0.00014
NM_001130144.3(LTBP3):c.3841C>G (p.Arg1281Gly) rs766976554 0.00014
NM_001174147.2(LMX1B):c.*3713G>A rs1015713642 0.00014
NM_001174147.2(LMX1B):c.*547C>T rs886063423 0.00014
NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp) rs201034260 0.00014
NM_001203.3(BMPR1B):c.838G>A (p.Asp280Asn) rs551370449 0.00014
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr) rs373631162 0.00014
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln) rs139601509 0.00014
NM_001330677.2(TBX15):c.1721A>G (p.Asn574Ser) rs548905715 0.00014
NM_001361.5(DHODH):c.*841G>A rs764720601 0.00014
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu) rs201051196 0.00014
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807 0.00014
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001854.4(COL11A1):c.*486T>C rs563094116 0.00014
NM_001854.4(COL11A1):c.-220T>C rs886044982 0.00014
NM_001854.4(COL11A1):c.1630-13T>C rs370547604 0.00014
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00014
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00014
NM_002010.3(FGF9):c.*2782A>G rs769128413 0.00014
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326 0.00014
NM_002335.4(LRP5):c.295G>A (p.Val99Met) rs768918663 0.00014
NM_002335.4(LRP5):c.3793G>C (p.Ala1265Pro) rs201530801 0.00014
NM_002615.7(SERPINF1):c.643+6C>T rs199908714 0.00014
NM_002734.5(PRKAR1A):c.*2196C>T rs886053320 0.00014
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 0.00014
NM_004260.4(RECQL4):c.2236G>A (p.Ala746Thr) rs758736784 0.00014
NM_004260.4(RECQL4):c.2705G>A (p.Arg902Gln) rs372205013 0.00014
NM_004260.4(RECQL4):c.2747C>T (p.Pro916Leu) rs375049839 0.00014
NM_004273.5(CHST3):c.*1811C>T rs894415519 0.00014
NM_004282.4(BAG2):c.*3518C>T rs896219710 0.00014
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe) rs200346970 0.00014
NM_004629.2(FANCG):c.-1C>T rs587777946 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=) rs144447618 0.00014
NM_005529.7(HSPG2):c.1546G>A (p.Ala516Thr) rs147557804 0.00014
NM_005529.7(HSPG2):c.6071T>A (p.Leu2024His) rs145943896 0.00014
NM_005529.7(HSPG2):c.6491C>T (p.Ala2164Val) rs371812575 0.00014
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) rs149844283 0.00014
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=) rs142800774 0.00014
NM_006129.5(BMP1):c.2519G>A (p.Arg840His) rs145359380 0.00014
NM_006182.4(DDR2):c.549C>T (p.Tyr183=) rs369267630 0.00014
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val) rs766894762 0.00014
NM_012330.4(KAT6B):c.2833C>T (p.Leu945Phe) rs200018142 0.00014
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324 0.00014
NM_015386.3(COG4):c.373C>T (p.Arg125Cys) rs757774654 0.00014
NM_015693.4(INTU):c.2527C>T (p.Arg843Cys) rs778337257 0.00014
NM_015909.4(NBAS):c.5251A>G (p.Ile1751Val) rs760807984 0.00014
NM_015909.4(NBAS):c.6022A>G (p.Ile2008Val) rs370669818 0.00014
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=) rs369830406 0.00014
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020297.4(ABCC9):c.3316-4A>C rs201147809 0.00014
NM_020812.4(DOCK6):c.4216T>G (p.Ser1406Ala) rs34479977 0.00014
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930 0.00014
NM_020937.4(FANCM):c.291C>G (p.His97Gln) rs369609574 0.00014
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) rs143152888 0.00014
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_022039.4(FBXW4):c.*600G>A rs1022774144 0.00014
NM_022356.4(P3H1):c.1307C>T (p.Thr436Ile) rs143729962 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_031296.3(RAB33B):c.*2355T>A rs778963098 0.00014
NM_031296.3(RAB33B):c.336C>T (p.Phe112=) rs142541603 0.00014
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_032444.4(SLX4):c.-398G>A rs559269050 0.00014
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val) rs200178217 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_032888.4(COL27A1):c.4967T>C (p.Leu1656Pro) rs145069844 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_152281.3(GORAB):c.83G>A (p.Arg28His) rs144383104 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_181486.4(TBX5):c.*1446T>G rs576867150 0.00014
NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile) rs202241126 0.00014
NM_213599.3(ANO5):c.1036A>C (p.Ile346Leu) rs146233625 0.00014
NR_003051.3(RMRP):n.-18C>G rs775303012 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp) rs148802548 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000316.3(PTH1R):c.1672C>T (p.Pro558Ser) rs201625204 0.00013
NM_001015880.2(PAPSS2):c.1074C>A (p.His358Gln) rs1266193901 0.00013
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395 0.00013
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001039958.2(MESP2):c.*101G>C rs761831896 0.00013
NM_001104631.2(PDE4D):c.*1924T>C rs749539498 0.00013
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=) rs147934193 0.00013
NM_001113378.2(FANCI):c.3677C>T (p.Thr1226Met) rs367665900 0.00013
NM_001113525.2(ZNF276):c.*105C>T rs557319516 0.00013
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683 0.00013
NM_001130144.3(LTBP3):c.3302C>T (p.Pro1101Leu) rs959390214 0.00013
NM_001130144.3(LTBP3):c.751G>A (p.Glu251Lys) rs752311785 0.00013
NM_001159773.2(CANT1):c.*301C>T rs576222698 0.00013
NM_001286577.2(C2CD3):c.5882-332A>G rs200146492 0.00013
NM_001361.5(DHODH):c.655G>A (p.Gly219Arg) rs369556950 0.00013
NM_001361.5(DHODH):c.881G>A (p.Gly294Asp) rs369181023 0.00013
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) rs143914758 0.00013
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) rs375951503 0.00013
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys) rs138034708 0.00013
NM_001793.6(CDH3):c.*405G>A rs778268579 0.00013
NM_001793.6(CDH3):c.390+5G>A rs570628442 0.00013
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met) rs140852936 0.00013
NM_002427.4(MMP13):c.301G>T (p.Val101Leu) rs151254531 0.00013
NM_002427.4(MMP13):c.951T>G (p.Asp317Glu) rs367612153 0.00013
NM_002449.5(MSX2):c.*144C>T rs530005338 0.00013
NM_002615.7(SERPINF1):c.1119C>G (p.Pro373=) rs148717983 0.00013
NM_002615.7(SERPINF1):c.826T>A (p.Phe276Ile) rs145833645 0.00013
NM_002734.5(PRKAR1A):c.*1014A>G rs886053311 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003052.5(SLC34A1):c.*323G>A rs886060469 0.00013
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520 0.00013
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) rs374243914 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.2261G>A (p.Arg754Gln) rs190061994 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_004260.4(RECQL4):c.2728G>A (p.Val910Ile) rs374225917 0.00013
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
NM_004629.2(FANCG):c.-56G>A rs967151809 0.00013
NM_004629.2(FANCG):c.1367A>T (p.His456Leu) rs148808709 0.00013
NM_004793.4(LONP1):c.325A>G (p.Ile109Val) rs141593936 0.00013
NM_004793.4(LONP1):c.796C>G (p.Leu266Val) rs373284466 0.00013
NM_004836.7(EIF2AK3):c.*271T>G rs886056414 0.00013
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005430.4(WNT1):c.535C>T (p.Leu179Phe) rs377240313 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_005529.7(HSPG2):c.10351C>T (p.Leu3451Phe) rs542598107 0.00013
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln) rs150650673 0.00013
NM_005529.7(HSPG2):c.4575C>T (p.Leu1525=) rs140056847 0.00013
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_005529.7(HSPG2):c.8374G>A (p.Val2792Met) rs377625016 0.00013
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202 0.00013
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr) rs140290722 0.00013
NM_006182.4(DDR2):c.-247G>A rs1028218034 0.00013
NM_006306.4(SMC1A):c.*3777C>G rs41315082 0.00013
NM_006371.5(CRTAP):c.*1397G>A rs528373518 0.00013
NM_006371.5(CRTAP):c.*991C>T rs886058355 0.00013
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln) rs375644526 0.00013
NM_012463.4(ATP6V0A2):c.*2833A>T rs117111955 0.00013
NM_014762.3(DHCR24):c.-77C>T rs548661780 0.00013
NM_014762.4(DHCR24):c.-42A>G rs371075692 0.00013
NM_014762.4(DHCR24):c.1329G>A (p.Pro443=) rs142984207 0.00013
NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu) rs34458186 0.00013
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser) rs149728983 0.00013
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349 0.00013
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469 0.00013
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) rs547223696 0.00013
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu) rs762637141 0.00013
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680 0.00013
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg) rs148638909 0.00013
NM_021939.4(FKBP10):c.*693G>T rs886052927 0.00013
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile) rs574064641 0.00013
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly) rs200053698 0.00013
NM_022167.4(XYLT2):c.811G>A (p.Asp271Asn) rs138933160 0.00013
NM_022356.4(P3H1):c.426G>T (p.Lys142Asn) rs200334947 0.00013
NM_022356.4(P3H1):c.689C>T (p.Ala230Val) rs369342678 0.00013
NM_022458.4(LMBR1):c.*2500A>G rs566692462 0.00013
NM_022725.4(FANCF):c.*2074A>G rs576419372 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_032444.4(SLX4):c.*578G>A rs781322530 0.00013
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) rs377718922 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_182943.3(PLOD2):c.*587G>A rs886058062 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000089.4(COL1A2):c.*545A>G rs761806166 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_001013693.3(LDLRAD2):c.*998C>T rs777311066 0.00012
NM_001104631.2(PDE4D):c.*2604A>C rs542930751 0.00012
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=) rs199627578 0.00012
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679 0.00012
NM_001113525.2(ZNF276):c.*471G>C rs368506826 0.00012
NM_001114636.1(FANCL):c.-35C>T rs368688452 0.00012
NM_001127671.2(LIFR):c.*393G>T rs779132960 0.00012
NM_001127671.2(LIFR):c.*5004A>G rs758275090 0.00012
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00012
NM_001130144.3(LTBP3):c.3438C>T (p.Gly1146=) rs766787396 0.00012
NM_001159773.2(CANT1):c.*352G>A rs766546218 0.00012
NM_001159773.2(CANT1):c.835+6A>G rs375082589 0.00012
NM_001174147.2(LMX1B):c.886+8G>A rs774459476 0.00012
NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly) rs201289177 0.00012
NM_001235.3(SERPINH1):c.-191A>G rs865919284 0.00012
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln) rs369204500 0.00012
NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly) rs938547995 0.00012
NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu) rs534807606 0.00012
NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr) rs145378102 0.00012
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765 0.00012
NM_002310.6(LIFR):c.-139G>A rs373489850 0.00012
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) rs201916993 0.00012
NM_002381.5(MATN3):c.209G>A (p.Arg70His) rs104893640 0.00012
NM_002693.3(POLG):c.*100G>A rs770839560 0.00012
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=) rs561557630 0.00012
NM_003995.4(NPR2):c.2840G>A (p.Arg947His) rs145008570 0.00012
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373 0.00012
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser) rs202127909 0.00012
NM_004260.4(RECQL4):c.1645A>C (p.Lys549Gln) rs542466006 0.00012
NM_004273.5(CHST3):c.*3040G>A rs550027128 0.00012
NM_004836.7(EIF2AK3):c.*360C>T rs551581209 0.00012
NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile) rs187776572 0.00012
NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His) rs200991366 0.00012
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005529.7(HSPG2):c.3543C>T (p.His1181=) rs375029322 0.00012
NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=) rs369970075 0.00012
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00012
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=) rs141211481 0.00012
NM_006031.6(PCNT):c.4791+14A>G rs201124068 0.00012
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val) rs748285536 0.00012
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser) rs199737174 0.00012
NM_006129.5(BMP1):c.1804A>G (p.Ile602Val) rs374534506 0.00012
NM_006371.5(CRTAP):c.514C>G (p.Leu172Val) rs142090883 0.00012
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys) rs201267683 0.00012
NM_012463.4(ATP6V0A2):c.*3159G>A rs539564846 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg) rs141231095 0.00012
NM_018112.3(TMEM38B):c.300A>G (p.Leu100=) rs201768590 0.00012
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys) rs186197572 0.00012
NM_020937.4(FANCM):c.538A>G (p.Ile180Val) rs151248588 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr) rs189856413 0.00012
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu) rs151020666 0.00012
NM_022167.4(XYLT2):c.1923C>T (p.Ser641=) rs778642140 0.00012
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met) rs773526836 0.00012
NM_022458.4(LMBR1):c.*728G>A rs886062116 0.00012
NM_022725.4(FANCF):c.*1630G>A rs559054290 0.00012
NM_031296.2(RAB33B):c.-163C>T rs886059076 0.00012
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) rs769999843 0.00012
NM_032043.3(BRIP1):c.*2656A>G rs1052477488 0.00012
NM_032043.3(BRIP1):c.*4053T>C rs191840743 0.00012
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268 0.00012
NM_032444.4(SLX4):c.2620G>A (p.Gly874Ser) rs113420526 0.00012
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu) rs373586019 0.00012
NM_032444.4(SLX4):c.4445G>A (p.Cys1482Tyr) rs148856258 0.00012
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly) rs375451955 0.00012
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_152281.3(GORAB):c.626G>A (p.Arg209Gln) rs200802067 0.00012
NR_003051.4(RMRP):n.112G>A rs1031995271 0.00012
NR_003051.4(RMRP):n.90G>A rs780957606 0.00012
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu) rs202068380 0.00011
NM_000089.4(COL1A2):c.2782-19T>G rs193922164 0.00011
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met) rs765448220 0.00011
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp) rs1014550811 0.00011
NM_000112.3(SLC26A2):c.-256G>A rs886060219 0.00011
NM_000112.4(SLC26A2):c.*2176A>G rs772022436 0.00011
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.2842G>C (p.Asp948His) rs778254482 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000136.3(FANCC):c.*984G>A rs3780559 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) rs547682383 0.00011
NM_000396.4(CTSK):c.*342C>T rs201937004 0.00011
NM_000493.4(COL10A1):c.*1038C>T rs1053741863 0.00011
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00011
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg) rs1039845680 0.00011
NM_001024630.4(RUNX2):c.*2880C>A rs567622268 0.00011
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) rs201647225 0.00011
NM_001040167.2(LFNG):c.1003G>A (p.Gly335Ser) rs764991226 0.00011
NM_001104631.2(PDE4D):c.*1034C>T rs886060710 0.00011
NM_001104631.2(PDE4D):c.*3492T>G rs949531257 0.00011
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser) rs757175453 0.00011
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_001127671.2(LIFR):c.*1198C>T rs775264074 0.00011
NM_001127671.2(LIFR):c.*2697A>G rs886060617 0.00011
NM_001127671.2(LIFR):c.*3375A>G rs778888227 0.00011
NM_001159773.2(CANT1):c.*1032G>T rs139951975 0.00011
NM_001159773.2(CANT1):c.-23+94T>G rs867691817 0.00011
NM_001174147.2(LMX1B):c.*446G>T rs894019334 0.00011
NM_001174147.2(LMX1B):c.*551C>A rs762152428 0.00011
NM_001235.5(SERPINH1):c.1059C>T (p.His353=) rs199548932 0.00011
NM_001235.5(SERPINH1):c.298G>A (p.Glu100Lys) rs749665611 0.00011
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys) rs200910137 0.00011
NM_001271938.2(MEGF8):c.4733G>A (p.Arg1578His) rs759275421 0.00011
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met) rs760894129 0.00011
NM_001278689.2(EOGT):c.305T>C (p.Met102Thr) rs201325214 0.00011
NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His) rs958229850 0.00011
NM_001353214.3(DYM):c.*12T>C rs45452499 0.00011
NM_001353214.3(DYM):c.-243C>T rs886053851 0.00011
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) rs151034190 0.00011
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp) rs370414289 0.00011
NM_001374353.1(GLI2):c.3434A>G (p.Lys1145Arg) rs190017682 0.00011
NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser) rs748356480 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val) rs563502625 0.00011
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001793.4(CDH3):c.-1085A>G rs768872455 0.00011
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_002335.4(LRP5):c.164C>T (p.Ser55Phe) rs148462220 0.00011
NM_002335.4(LRP5):c.3586G>A (p.Ala1196Thr) rs199887400 0.00011
NM_002381.5(MATN3):c.832G>A (p.Val278Ile) rs149976914 0.00011
NM_002427.4(MMP13):c.756T>C (p.Phe252=) rs372000933 0.00011
NM_002449.5(MSX2):c.*1312A>G rs886060434 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) rs142981128 0.00011
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_004239.4(TRIP11):c.331A>G (p.Lys111Glu) rs776314213 0.00011
NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met) rs147588757 0.00011
NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val) rs143594637 0.00011
NM_004260.4(RECQL4):c.2143C>T (p.Arg715Trp) rs373292946 0.00011
NM_004260.4(RECQL4):c.230G>A (p.Cys77Tyr) rs373705170 0.00011
NM_004260.4(RECQL4):c.3394-9T>G rs746656592 0.00011
NM_004260.4(RECQL4):c.3430C>T (p.Arg1144Cys) rs202134651 0.00011
NM_004273.5(CHST3):c.1324G>A (p.Ala442Thr) rs776562348 0.00011
NM_004273.5(CHST3):c.423G>A (p.Thr141=) rs376107245 0.00011
NM_004282.4(BAG2):c.*3142C>G rs562371430 0.00011
NM_004282.4(BAG2):c.*3395A>G rs561133735 0.00011
NM_004282.4(BAG2):c.*3502G>T rs550035886 0.00011
NM_004282.4(BAG2):c.*5351G>C rs530900959 0.00011
NM_004625.4(WNT7A):c.470G>A (p.Arg157His) rs199592697 0.00011
NM_004793.4(LONP1):c.788C>T (p.Thr263Ile) rs139791767 0.00011
NM_004836.7(EIF2AK3):c.*356A>G rs974625421 0.00011
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met) rs368497178 0.00011
NM_005529.7(HSPG2):c.4135G>A (p.Gly1379Ser) rs778185997 0.00011
NM_005529.7(HSPG2):c.4681G>A (p.Glu1561Lys) rs372608187 0.00011
NM_005529.7(HSPG2):c.6917C>T (p.Ala2306Val) rs758311848 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.8212G>A (p.Val2738Met) rs144862631 0.00011
NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln) rs202018841 0.00011
NM_005529.7(HSPG2):c.9908C>T (p.Thr3303Met) rs150109595 0.00011
NM_006031.6(PCNT):c.*234C>T rs868047279 0.00011
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231 0.00011
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024 0.00011
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) rs199661615 0.00011
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile) rs766688176 0.00011
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542 0.00011
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) rs373238616 0.00011
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011 0.00011
NM_006306.4(SMC1A):c.*381A>G rs184957599 0.00011
NM_006371.5(CRTAP):c.*2693C>T rs149468116 0.00011
NM_006371.5(CRTAP):c.*5190G>T rs901408269 0.00011
NM_006371.5(CRTAP):c.459C>G (p.Phe153Leu) rs531119589 0.00011
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_012463.4(ATP6V0A2):c.*3166C>T rs777687879 0.00011
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) rs535703391 0.00011
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534 0.00011
NM_015139.3(SLC35D1):c.275C>T (p.Ala92Val) rs369183359 0.00011
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00011
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693 0.00011
NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn) rs544425912 0.00011
NM_018062.4(FANCL):c.706A>G (p.Ile236Val) rs762904548 0.00011
NM_020779.4(WDR35):c.*2618G>A rs563586298 0.00011
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) rs374073530 0.00011
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) rs539243373 0.00011
NM_020812.4(DOCK6):c.2506G>A (p.Val836Ile) rs200935357 0.00011
NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile) rs143194982 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met) rs139343255 0.00011
NM_022039.4(FBXW4):c.726-12G>T rs755969920 0.00011
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu) rs139070566 0.00011
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_022356.4(P3H1):c.1087A>G (p.Lys363Glu) rs146476495 0.00011
NM_022725.4(FANCF):c.*1420A>G rs414664 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032444.4(SLX4):c.2053G>A (p.Val685Ile) rs371002922 0.00011
NM_032444.4(SLX4):c.2335G>A (p.Val779Met) rs768126392 0.00011
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys) rs770020510 0.00011
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu) rs140417509 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) rs759357299 0.00011
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) rs374645024 0.00011
NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_133433.4(NIPBL):c.-265A>G rs879291582 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00011
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_152281.3(GORAB):c.-53C>A rs150688009 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.299A>G (p.Asp100Gly) rs1282571678 0.00011
NM_198525.3(KIF7):c.2191+7C>T rs371970440 0.00011
NM_198525.3(KIF7):c.2482G>A (p.Val828Met) rs143915145 0.00011
NM_203486.3(DLL3):c.1623G>A (p.Pro541=) rs200988915 0.00011
NM_213599.3(ANO5):c.1364G>A (p.Arg455His) rs772899863 0.00011
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000088.4(COL1A1):c.*1384_*1387del rs886053139 0.00010
NM_000088.4(COL1A1):c.*502C>T rs1004356084 0.00010
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His) rs147063981 0.00010
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) rs148362963 0.00010
NM_000089.4(COL1A2):c.486+15A>G rs193922171 0.00010
NM_000095.3(COMP):c.-15C>T rs374273743 0.00010
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) rs144170209 0.00010
NM_000112.4(SLC26A2):c.*4612G>A rs886060251 0.00010
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646 0.00010
NM_000136.3(FANCC):c.*1332A>G rs191983554 0.00010
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511 0.00010
NM_000136.3(FANCC):c.896+6C>T rs199525333 0.00010
NM_000141.5(FGFR2):c.-237C>A rs1013618217 0.00010
NM_000522.5(HOXA13):c.46G>A (p.Val16Ile) rs200676634 0.00010
NM_000557.5(GDF5):c.-220C>T rs886056643 0.00010
NM_000935.2(PLOD2):c.-322G>T rs550383313 0.00010
NM_001011658.4(TRAPPC2):c.*1288T>G rs1417991590 0.00010
NM_001011658.4(TRAPPC2):c.*187A>T rs1427810998 0.00010
NM_001013693.3(LDLRAD2):c.*883C>T rs561927299 0.00010
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=) rs200118565 0.00010
NM_001024630.4(RUNX2):c.*881A>G rs886061498 0.00010
NM_001040167.2(LFNG):c.295G>A (p.Ala99Thr) rs903013824 0.00010
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00010
NM_001104631.2(PDE4D):c.*1295G>A rs556877242 0.00010
NM_001104631.2(PDE4D):c.*2166del rs747331829 0.00010
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) rs141879625 0.00010
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys) rs144419129 0.00010
NM_001113378.2(FANCI):c.2890-13C>T rs377269890 0.00010
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_001127671.2(LIFR):c.*1302T>G rs886060621 0.00010
NM_001127671.2(LIFR):c.*368A>C rs886060625 0.00010
NM_001127671.2(LIFR):c.*6248C>G rs560182899 0.00010
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_001130144.3(LTBP3):c.2621C>T (p.Pro874Leu) rs370306373 0.00010
NM_001130144.3(LTBP3):c.3566C>T (p.Ser1189Leu) rs368031065 0.00010
NM_001159773.2(CANT1):c.*919C>G rs777105575 0.00010
NM_001174147.2(LMX1B):c.*4477C>T rs778454522 0.00010
NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) rs376819253 0.00010
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=) rs764014679 0.00010
NM_001278689.2(EOGT):c.1129C>T (p.Arg377Trp) rs377612780 0.00010
NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser) rs139295083 0.00010
NM_001286577.2(C2CD3):c.5495+4A>G rs375920052 0.00010
NM_001353214.3(DYM):c.-169G>A rs886053849 0.00010
NM_001361.5(DHODH):c.*819A>G rs886052282 0.00010
NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys) rs376142632 0.00010
NM_001379081.2(FREM1):c.6010-3A>G rs191713464 0.00010
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00010
NM_001793.6(CDH3):c.*498G>A rs746152331 0.00010
NM_001793.6(CDH3):c.2361C>T (p.Ser787=) rs201352240 0.00010
NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn) rs149805455 0.00010
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500 0.00010
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val) rs1056743758 0.00010
NM_002381.5(MATN3):c.523A>C (p.Thr175Pro) rs370381391 0.00010
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921 0.00010
NM_002615.7(SERPINF1):c.808G>A (p.Gly270Arg) rs369314029 0.00010
NM_004239.4(TRIP11):c.1186+14G>A rs371492052 0.00010
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681 0.00010
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_004260.4(RECQL4):c.3119C>A (p.Pro1040Gln) rs370867731 0.00010
NM_004260.4(RECQL4):c.3185G>A (p.Arg1062Gln) rs558058260 0.00010
NM_004260.4(RECQL4):c.380C>T (p.Pro127Leu) rs550470182 0.00010
NM_004273.5(CHST3):c.*4498A>G rs552578786 0.00010
NM_004273.5(CHST3):c.518C>T (p.Ser173Phe) rs751961615 0.00010
NM_004629.2(FANCG):c.*250C>T rs535188841 0.00010
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln) rs77152961 0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_004836.7(EIF2AK3):c.13A>G (p.Ile5Val) rs886056419 0.00010
NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser) rs148953825 0.00010
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) rs142527605 0.00010
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser) rs147707402 0.00010
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys) rs757541406 0.00010
NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp) rs752793818 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.2792G>A (p.Arg931His) rs372407090 0.00010
NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=) rs544392697 0.00010
NM_005529.7(HSPG2):c.4900G>A (p.Gly1634Ser) rs372033039 0.00010
NM_006031.6(PCNT):c.*307A>G rs879391669 0.00010
NM_006031.6(PCNT):c.2784C>T (p.Gly928=) rs201809134 0.00010
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser) rs886057187 0.00010
NM_006031.6(PCNT):c.947A>T (p.Glu316Val) rs201194745 0.00010
NM_006031.6(PCNT):c.977C>T (p.Ala326Val) rs181165794 0.00010
NM_006306.4(SMC1A):c.*1914A>G rs964056946 0.00010
NM_006306.4(SMC1A):c.*3025C>T rs782139355 0.00010
NM_006306.4(SMC1A):c.*348C>T rs782700234 0.00010
NM_006371.5(CRTAP):c.*539C>G rs750130051 0.00010
NM_006371.5(CRTAP):c.85G>C (p.Glu29Gln) rs766784647 0.00010
NM_006371.5(CRTAP):c.88C>A (p.Arg30Ser) rs553076085 0.00010
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His) rs368259149 0.00010
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00010
NM_012463.4(ATP6V0A2):c.*1454A>G rs3748272 0.00010
NM_012463.4(ATP6V0A2):c.*3505A>G rs868846588 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109 0.00010
NM_014762.4(DHCR24):c.*1881G>A rs757634950 0.00010
NM_014762.4(DHCR24):c.*27dup rs757256992 0.00010
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) rs780308423 0.00010
NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser) rs141793158 0.00010
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg) rs374675609 0.00010
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln) rs142110072 0.00010
NM_020223.4(FAM20C):c.458G>A (p.Gly153Asp) rs751592577 0.00010
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu) rs138201476 0.00010
NM_021922.3(FANCE):c.59C>T (p.Ala20Val) rs927154227 0.00010
NM_021939.4(FKBP10):c.*589T>C rs886052925 0.00010
NM_021939.4(FKBP10):c.616G>A (p.Gly206Ser) rs146440863 0.00010
NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser) rs147101412 0.00010
NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu) rs984714850 0.00010
NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala) rs199643996 0.00010
NM_022356.4(P3H1):c.1402G>T (p.Gly468Cys) rs142844222 0.00010
NM_022356.4(P3H1):c.1601G>A (p.Ser534Asn) rs761150997 0.00010
NM_022458.4(LMBR1):c.*2016C>T rs529448700 0.00010
NM_022458.4(LMBR1):c.*305G>A rs771023322 0.00010
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter) rs201285915 0.00010
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu) rs374572943 0.00010
NM_023110.3(FGFR1):c.*2407C>T rs758524862 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) rs190192706 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_032444.4(SLX4):c.*168T>G rs886051975 0.00010
NM_032444.4(SLX4):c.1911G>T (p.Ser637=) rs200013924 0.00010
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His) rs139544666 0.00010
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp) rs777967898 0.00010
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg) rs201533738 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) rs1057522880 0.00010
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val) rs766519442 0.00010
NM_080680.3(COL11A2):c.2676A>T (p.Gly892=) rs1405058032 0.00010
NM_080680.3(COL11A2):c.5071-7C>G rs200548977 0.00010
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser) rs140344071 0.00010
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu) rs1085307848 0.00010
NM_182943.3(PLOD2):c.*1211C>T rs886058061 0.00010
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) rs757175418 0.00010
NM_213599.3(ANO5):c.2235+4A>C rs372056234 0.00010
NM_213599.3(ANO5):c.2446G>A (p.Glu816Lys) rs145127621 0.00010
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys) rs200531045 0.00010
NM_213599.3(ANO5):c.994A>G (p.Met332Val) rs200553437 0.00010
NR_003051.4(RMRP):n.121C>T rs549849356 0.00010
NR_003051.4(RMRP):n.67A>G rs530883024 0.00010
NC_000009.12:g.35657746A>G rs749839597 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 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_000088.4(COL1A1):c.*342C>A rs1253268385 0.00009
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala) rs767250343 0.00009
NM_000089.4(COL1A2):c.2275G>A (p.Val759Ile) rs200501072 0.00009
NM_000089.4(COL1A2):c.2500G>A (p.Val834Ile) rs150993338 0.00009
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00009
NM_000089.4(COL1A2):c.3077A>G (p.Asn1026Ser) rs369457688 0.00009
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000095.3(COMP):c.2213G>A (p.Arg738His) rs766913050 0.00009
NM_000112.4(SLC26A2):c.*4397A>G rs547302746 0.00009
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His) rs150314895 0.00009
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys) rs200897133 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915 0.00009
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00009
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875 0.00009
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly) rs753980264 0.00009
NM_000135.4(FANCA):c.189+12C>G rs753101174 0.00009
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu) rs373147908 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000136.3(FANCC):c.*267G>A rs769817519 0.00009
NM_000136.3(FANCC):c.1073-5C>T rs375613884 0.00009
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608 0.00009
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288 0.00009
NM_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00009
NM_001011658.4(TRAPPC2):c.*670C>T rs1429642104 0.00009
NM_001013693.3(LDLRAD2):c.*1056C>T rs541474662 0.00009
NM_001013693.3(LDLRAD2):c.*502T>G rs886046026 0.00009
NM_001015880.2(PAPSS2):c.1414G>A (p.Glu472Lys) rs149151415 0.00009
NM_001015880.2(PAPSS2):c.1568C>T (p.Pro523Leu) rs368088157 0.00009
NM_001015880.2(PAPSS2):c.1667G>A (p.Arg556Gln) rs758144732 0.00009
NM_001018113.3(FANCB):c.-111A>G rs185118376 0.00009
NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr) rs763986919 0.00009
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=) rs780547790 0.00009
NM_001024630.4(RUNX2):c.*1696C>T rs755642283 0.00009
NM_001039958.2(MESP2):c.*118G>A rs1056747683 0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001104631.2(PDE4D):c.*1278C>T rs775984561 0.00009
NM_001104631.2(PDE4D):c.*1572A>G rs961856114 0.00009
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=) rs1345148257 0.00009
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile) rs140965103 0.00009
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg) rs200026076 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_001127671.2(LIFR):c.*1086A>C rs567657966 0.00009
NM_001127671.2(LIFR):c.*262A>G rs763998777 0.00009
NM_001127671.2(LIFR):c.*3182G>A rs758192947 0.00009
NM_001127671.2(LIFR):c.*3470G>T rs886467983 0.00009
NM_001127671.2(LIFR):c.*443C>T rs1011411405 0.00009
NM_001127671.2(LIFR):c.*4801A>G rs555849365 0.00009
NM_001127671.2(LIFR):c.*657C>T rs938116389 0.00009
NM_001130144.3(LTBP3):c.2919C>G (p.Asp973Glu) rs145041278 0.00009
NM_001130144.3(LTBP3):c.443G>A (p.Gly148Asp) rs750578456 0.00009
NM_001159773.2(CANT1):c.*174G>A rs544997912 0.00009
NM_001159773.2(CANT1):c.*57G>A rs886053525 0.00009
NM_001159773.2(CANT1):c.735G>A (p.Pro245=) rs138754148 0.00009
NM_001174147.2(LMX1B):c.*1511G>A rs547510293 0.00009
NM_001174147.2(LMX1B):c.*90C>T rs747815548 0.00009
NM_001174147.2(LMX1B):c.972G>C (p.Gln324His) rs886063418 0.00009
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg) rs147068787 0.00009
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp) rs200195292 0.00009
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) rs886037884 0.00009
NM_001330677.2(TBX15):c.1150G>A (p.Val384Met) rs368418125 0.00009
NM_001330677.2(TBX15):c.979C>T (p.Arg327Cys) rs762139183 0.00009
NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser) rs768631811 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser) rs775792241 0.00009
NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys) rs747977032 0.00009
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val) rs192335673 0.00009
NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu) rs770395082 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001852.4(COL9A2):c.1188G>A (p.Val396=) rs201054854 0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala) rs528002132 0.00009
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00009
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00009
NM_002010.3(FGF9):c.*1679A>G rs762284852 0.00009
NM_002310.6(LIFR):c.-118G>A rs573436558 0.00009
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser) rs201793593 0.00009
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr) rs113007633 0.00009
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) rs80291963 0.00009
NM_002693.3(POLG):c.*122G>A rs886051517 0.00009
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) rs199807776 0.00009
NM_003995.4(NPR2):c.1262C>T (p.Thr421Met) rs140361919 0.00009
NM_003995.4(NPR2):c.336C>G (p.Ala112=) rs533386555 0.00009
NM_003995.4(NPR2):c.953G>A (p.Arg318Gln) rs144940095 0.00009
NM_004239.4(TRIP11):c.*107C>T rs778402674 0.00009
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg) rs201567600 0.00009
NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) rs200045450 0.00009
NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg) rs200721244 0.00009
NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly) rs749388466 0.00009
NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg) rs150694723 0.00009
NM_004260.4(RECQL4):c.1165T>C (p.Cys389Arg) rs551814194 0.00009
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=) rs773682937 0.00009
NM_004260.4(RECQL4):c.1720G>A (p.Val574Ile) rs368983561 0.00009
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657 0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.2492A>G (p.His831Arg) rs754324912 0.00009
NM_004260.4(RECQL4):c.2837G>A (p.Arg946His) rs773154902 0.00009
NM_004260.4(RECQL4):c.3154T>A (p.Cys1052Ser) rs573929442 0.00009
NM_004260.4(RECQL4):c.358G>C (p.Gly120Arg) rs571635676 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.392G>A (p.Gly131Glu) rs542844885 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004273.5(CHST3):c.*4336A>G rs569758444 0.00009
NM_004273.5(CHST3):c.*4409C>T rs754282055 0.00009
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) rs3740128 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_004629.2(FANCG):c.373_375dup (p.Val125dup) rs750843326 0.00009
NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=) rs137927384 0.00009
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) rs139901728 0.00009
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00009
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005529.7(HSPG2):c.2367G>A (p.Gly789=) rs151039517 0.00009
NM_005529.7(HSPG2):c.6952G>A (p.Glu2318Lys) rs372259670 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.8805C>T (p.His2935=) rs201338722 0.00009
NM_005529.7(HSPG2):c.8847C>T (p.Pro2949=) rs371076634 0.00009
NM_005529.7(HSPG2):c.9284A>G (p.Asn3095Ser) rs765463910 0.00009
NM_005850.4(SF3B4):c.-263dup rs762430957 0.00009
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549 0.00009
NM_006031.6(PCNT):c.1590T>C (p.Ala530=) rs200294006 0.00009
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030 0.00009
NM_006031.6(PCNT):c.4568C>T (p.Ala1523Val) rs138175397 0.00009
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229 0.00009
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432 0.00009
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His) rs199936673 0.00009
NM_006031.6(PCNT):c.9099+8G>T rs369178196 0.00009
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=) rs144651746 0.00009
NM_006129.5(BMP1):c.2455G>A (p.Gly819Ser) rs200936548 0.00009
NM_006182.4(DDR2):c.508A>T (p.Thr170Ser) rs201573606 0.00009
NM_006265.3(RAD21):c.1479G>C (p.Gln493His) rs759030507 0.00009
NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe) rs139935751 0.00009
NM_006371.5(CRTAP):c.*2679G>A rs547363446 0.00009
NM_006371.5(CRTAP):c.*293G>A rs939604527 0.00009
NM_012330.4(KAT6B):c.3326C>T (p.Ser1109Phe) rs199963389 0.00009
NM_012463.4(ATP6V0A2):c.*3042T>G rs886049076 0.00009
NM_012463.4(ATP6V0A2):c.*742G>A rs964496583 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_013432.5(TONSL):c.2891C>T (p.Ala964Val) rs778431357 0.00009
NM_014140.4(SMARCAL1):c.812-15T>C rs375588610 0.00009
NM_014762.4(DHCR24):c.*1264T>C rs553462271 0.00009
NM_014762.4(DHCR24):c.*1389T>C rs140078801 0.00009
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000 0.00009
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_018062.4(FANCL):c.-3G>C rs766104531 0.00009
NM_020779.4(WDR35):c.*2559A>G rs751743368 0.00009
NM_020779.4(WDR35):c.*2887T>C rs749198501 0.00009
NM_020779.4(WDR35):c.*712A>T rs572859023 0.00009
NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu) rs377167890 0.00009
NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp) rs946862124 0.00009
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly) rs561723791 0.00009
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn) rs151273573 0.00009
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020937.4(FANCM):c.775A>G (p.Ile259Val) rs150256536 0.00009
NM_020937.4(FANCM):c.869T>C (p.Ile290Thr) rs377303950 0.00009
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_021939.4(FKBP10):c.473T>C (p.Val158Ala) rs781874365 0.00009
NM_022166.4(XYLT1):c.287G>C (p.Arg96Pro) rs1037051580 0.00009
NM_022166.4(XYLT1):c.41C>T (p.Ser14Leu) rs558470371 0.00009
NM_022167.4(XYLT2):c.493G>A (p.Val165Met) rs201070818 0.00009
NM_022168.4(IFIH1):c.454-1G>T rs148590996 0.00009
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser) rs374205118 0.00009
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys) rs180843163 0.00009
NM_022356.4(P3H1):c.1429G>A (p.Val477Ile) rs201170161 0.00009
NM_022458.4(LMBR1):c.*1608C>T rs749633714 0.00009
NM_022725.4(FANCF):c.*1512A>G rs571200561 0.00009
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys) rs750623273 0.00009
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser) rs372140217 0.00009
NM_023110.3(FGFR1):c.*957C>T rs941835357 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 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_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) rs200448316 0.00009
NM_032043.3(BRIP1):c.*1792G>A rs746869920 0.00009
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu) rs377302300 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_032444.4(SLX4):c.*887C>T rs557729822 0.00009
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln) rs377135500 0.00009
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331 0.00009
NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly) rs146837290 0.00009
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu) rs72778139 0.00009
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu) rs756566189 0.00009
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00009
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_181486.4(TBX5):c.*1344G>A rs1332937417 0.00009
NM_181486.4(TBX5):c.*1511G>A rs886048983 0.00009
NM_203486.3(DLL3):c.1123C>T (p.Leu375=) rs777253263 0.00009
NM_213599.3(ANO5):c.1420G>A (p.Val474Ile) rs750702622 0.00009
NM_213599.3(ANO5):c.1553G>C (p.Gly518Ala) rs201463445 0.00009
NM_213599.3(ANO5):c.479G>A (p.Arg160His) rs150652958 0.00009
NR_003051.4(RMRP):n.116G>T rs747605028 0.00009
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_000089.4(COL1A2):c.2968G>T (p.Ala990Ser) rs367848162 0.00008
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile) rs777501717 0.00008
NM_000112.4(SLC26A2):c.*4586C>T rs886060250 0.00008
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000316.3(PTH1R):c.1696G>A (p.Gly566Ser) rs147371743 0.00008
NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg) rs146163188 0.00008
NM_000942.5(PPIB):c.597C>T (p.Ile199=) rs369889089 0.00008
NM_001011658.4(TRAPPC2):c.*867C>T rs1471265901 0.00008
NM_001018113.3(FANCB):c.-230A>T rs1020271259 0.00008
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015 0.00008
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733 0.00008
NM_001018115.3(FANCD2):c.4281+37G>A rs376442380 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001024630.4(RUNX2):c.*1549T>A rs757660837 0.00008
NM_001040167.2(LFNG):c.559C>T (p.Arg187Cys) rs764283232 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_001130144.3(LTBP3):c.1183A>G (p.Ile395Val) rs374667397 0.00008
NM_001130144.3(LTBP3):c.131G>C (p.Gly44Ala) rs1261373070 0.00008
NM_001130144.3(LTBP3):c.2316G>T (p.Gln772His) rs201219596 0.00008
NM_001130144.3(LTBP3):c.3700G>A (p.Gly1234Ser) rs372367914 0.00008
NM_001174147.2(LMX1B):c.*2511C>T rs868840331 0.00008
NM_001174147.2(LMX1B):c.*3804C>T rs558013035 0.00008
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) rs373000965 0.00008
NM_001353214.3(DYM):c.-215G>A rs567710822 0.00008
NM_001361.5(DHODH):c.*349A>C rs570935994 0.00008
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu) rs759061834 0.00008
NM_001384732.1(CPLANE1):c.3130C>T (p.Arg1044Cys) rs376987361 0.00008
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile) rs142316931 0.00008
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys) rs200358545 0.00008
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met) rs587783354 0.00008
NM_001793.6(CDH3):c.1632T>G (p.His544Gln) rs779777939 0.00008
NM_001793.6(CDH3):c.798C>T (p.His266=) rs748455192 0.00008
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001854.4(COL11A1):c.*579A>G rs536837264 0.00008
NM_001854.4(COL11A1):c.456C>T (p.Pro152=) rs751512442 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val) rs369747444 0.00008
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser) rs142001526 0.00008
NM_002335.4(LRP5):c.551G>A (p.Ser184Asn) rs142649952 0.00008
NM_002615.7(SERPINF1):c.970G>A (p.Glu324Lys) rs781432190 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.242C>A (p.Pro81Gln) rs542659326 0.00008
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003995.4(NPR2):c.1621G>A (p.Gly541Ser) rs369386073 0.00008
NM_004239.4(TRIP11):c.*938A>G rs759610969 0.00008
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) rs367632896 0.00008
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu) rs146963789 0.00008
NM_004260.4(RECQL4):c.1040G>A (p.Arg347His) rs757988816 0.00008
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.1981G>A (p.Glu661Lys) rs775332504 0.00008
NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) rs369950284 0.00008
NM_004260.4(RECQL4):c.2153C>T (p.Ala718Val) rs769675968 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp) rs750304658 0.00008
NM_004260.4(RECQL4):c.3431G>A (p.Arg1144His) rs746892308 0.00008
NM_004273.5(CHST3):c.-98G>A rs539958310 0.00008
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_005529.7(HSPG2):c.1411G>C (p.Glu471Gln) rs201765006 0.00008
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.7138A>C (p.Ser2380Arg) rs767635632 0.00008
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val) rs140197256 0.00008
NM_006031.6(PCNT):c.*421A>G rs886057198 0.00008
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_006031.6(PCNT):c.5994+4G>A rs781737632 0.00008
NM_006031.6(PCNT):c.721-5C>T rs144683591 0.00008
NM_006182.4(DDR2):c.2068A>G (p.Met690Val) rs377626332 0.00008
NM_006371.5(CRTAP):c.*3511G>C rs886058369 0.00008
NM_006371.5(CRTAP):c.*4836T>C rs568448045 0.00008
NM_006371.5(CRTAP):c.233G>A (p.Arg78His) rs372600896 0.00008
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_012463.4(ATP6V0A2):c.*2454T>C rs776825961 0.00008
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00008
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys) rs371394232 0.00008
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350 0.00008
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile) rs201493612 0.00008
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_017633.3(TENT5A):c.790G>T (p.Val264Phe) rs202213843 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_018112.3(TMEM38B):c.526T>C (p.Trp176Arg) rs538936774 0.00008
NM_018475.5(TMEM165):c.*236A>G rs548381906 0.00008
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020779.4(WDR35):c.*563T>G rs561642193 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_020928.2(ZSWIM6):c.1991T>C (p.Met664Thr) rs371478900 0.00008
NM_020937.4(FANCM):c.1309+5G>T rs370363591 0.00008
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg) rs572890751 0.00008
NM_020937.4(FANCM):c.4367G>A (p.Arg1456His) rs749332566 0.00008
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175 0.00008
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg) rs200083899 0.00008
NM_021939.4(FKBP10):c.1003A>G (p.Met335Val) rs369599375 0.00008
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser) rs140950528 0.00008
NM_021939.4(FKBP10):c.677G>A (p.Arg226Lys) rs556997852 0.00008
NM_022166.4(XYLT1):c.2344G>A (p.Val782Ile) rs778581218 0.00008
NM_022356.4(P3H1):c.1243G>A (p.Val415Ile) rs147423732 0.00008
NM_022356.4(P3H1):c.211C>T (p.Leu71Phe) rs1039698828 0.00008
NM_022725.4(FANCF):c.*336C>A rs750128615 0.00008
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu) rs200416138 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro) rs587780223 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.1357-7G>A rs377101599 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His) rs574214196 0.00008
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met) rs543847606 0.00008
NM_032444.4(SLX4):c.630A>G (p.Leu210=) rs746155183 0.00008
NM_052989.3(IFT122):c.-3G>A rs367704478 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403 0.00008
NM_080680.3(COL11A2):c.*429G>T rs760188928 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_152281.3(GORAB):c.-21G>A rs149401558 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 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_182943.3(PLOD2):c.475A>T (p.Ile159Phe) rs768122346 0.00008
NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala) rs773460228 0.00008
NM_213599.3(ANO5):c.1430T>C (p.Met477Thr) rs149017832 0.00008
NR_003051.3(RMRP):n.-22T>C rs947939533 0.00008
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000088.4(COL1A1):c.3532-3C>T rs369283493 0.00007
NM_000088.4(COL1A1):c.768C>T (p.Pro256=) rs199891984 0.00007
NM_000089.4(COL1A2):c.*131G>T rs777448399 0.00007
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595 0.00007
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu) rs149858889 0.00007
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) rs370458957 0.00007
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) rs150534218 0.00007
NM_000112.3(SLC26A2):c.-264C>T rs963803079 0.00007
NM_000112.4(SLC26A2):c.*834T>C rs767822866 0.00007
NM_000135.4(FANCA):c.1006+4G>C rs201771215 0.00007
NM_000135.4(FANCA):c.1225+14C>T rs376558078 0.00007
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068 0.00007
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) rs200922390 0.00007
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523 0.00007
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) rs757175768 0.00007
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro) rs556235245 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) rs555519520 0.00007
NM_000136.3(FANCC):c.*1028C>T rs556229977 0.00007
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397 0.00007
NM_000136.3(FANCC):c.345+6A>T rs368595927 0.00007
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719 0.00007
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) rs151330461 0.00007
NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser) rs1247147548 0.00007
NM_000493.4(COL10A1):c.357G>C (p.Glu119Asp) rs149987585 0.00007
NM_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu) rs755295382 0.00007
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001018115.3(FANCD2):c.4281+328G>T rs1231972897 0.00007
NM_001024630.4(RUNX2):c.*1174A>C rs765793000 0.00007
NM_001024630.4(RUNX2):c.*3642C>T rs886061510 0.00007
NM_001025295.3(IFITM5):c.-3C>T rs1362690516 0.00007
NM_001040167.2(LFNG):c.37C>G (p.Leu13Val) rs1425455790 0.00007
NM_001040167.2(LFNG):c.479C>T (p.Thr160Met) rs769574441 0.00007
NM_001104631.2(PDE4D):c.*4703A>G rs186917544 0.00007
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala) rs767847271 0.00007
NM_001113378.2(FANCI):c.754G>A (p.Glu252Lys) rs776911782 0.00007
NM_001113378.2(FANCI):c.793C>T (p.Arg265Cys) rs753511061 0.00007
NM_001127671.2(LIFR):c.*2611C>T rs905926604 0.00007
NM_001127671.2(LIFR):c.*4346G>A rs184642499 0.00007
NM_001127671.2(LIFR):c.*4841G>A rs1307069696 0.00007
NM_001127671.2(LIFR):c.1338A>G (p.Ser446=) rs770514781 0.00007
NM_001127671.2(LIFR):c.2309C>T (p.Thr770Ile) rs760903325 0.00007
NM_001130144.3(LTBP3):c.2473G>A (p.Glu825Lys) rs147143573 0.00007
NM_001173467.3(SP7):c.855G>A (p.Ala285=) rs561083858 0.00007
NM_001174147.2(LMX1B):c.*3404G>A rs754688626 0.00007
NM_001174147.2(LMX1B):c.*4050C>A rs776459298 0.00007
NM_001174147.2(LMX1B):c.130G>A (p.Val44Met) rs1017526258 0.00007
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser) rs370106282 0.00007
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys) rs143643113 0.00007
NM_001361.5(DHODH):c.606C>T (p.Gly202=) rs573177564 0.00007
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met) rs571690193 0.00007
NM_001374353.1(GLI2):c.4413G>T (p.Leu1471Phe) rs146403211 0.00007
NM_001374353.1(GLI2):c.538A>C (p.Met180Leu) rs565813552 0.00007
NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile) rs761746624 0.00007
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985 0.00007
NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val) rs372396805 0.00007
NM_001440.4(EXTL3):c.2486T>C (p.Ile829Thr) rs756753935 0.00007
NM_001793.6(CDH3):c.2115G>A (p.Gly705=) rs200124759 0.00007
NM_001793.6(CDH3):c.318G>A (p.Lys106=) rs886052229 0.00007
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001852.4(COL9A2):c.1282G>C (p.Asp428His) rs375240237 0.00007
NM_001854.4(COL11A1):c.*535A>C rs778002512 0.00007
NM_001854.4(COL11A1):c.107-12C>T rs200564243 0.00007
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_002010.3(FGF9):c.*2356A>C rs374249081 0.00007
NM_002335.4(LRP5):c.1192C>T (p.Arg398Cys) rs776512547 0.00007
NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln) rs770223547 0.00007
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) rs200416179 0.00007
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) rs139847357 0.00007
NM_002335.4(LRP5):c.4619C>T (p.Thr1540Met) rs141407040 0.00007
NM_002734.5(PRKAR1A):c.*1062A>G rs752303671 0.00007
NM_002734.5(PRKAR1A):c.*331G>A rs1001484586 0.00007
NM_003995.4(NPR2):c.1072C>T (p.Arg358Trp) rs140870470 0.00007
NM_004239.4(TRIP11):c.3514G>A (p.Glu1172Lys) rs145498019 0.00007
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101 0.00007
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) rs747895651 0.00007
NM_004260.4(RECQL4):c.2224G>A (p.Glu742Lys) rs377026680 0.00007
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys) rs746005466 0.00007
NM_004260.4(RECQL4):c.3419G>A (p.Arg1140His) rs767822615 0.00007
NM_004260.4(RECQL4):c.3512G>A (p.Cys1171Tyr) rs748529710 0.00007
NM_004260.4(RECQL4):c.647A>G (p.Glu216Gly) rs531780795 0.00007
NM_004273.5(CHST3):c.*1091G>T rs886047167 0.00007
NM_004273.5(CHST3):c.-265C>G rs371903365 0.00007
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511 0.00007
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys) rs201153812 0.00007
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn) rs55736359 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln) rs180919656 0.00007
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys) rs374978891 0.00007
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753 0.00007
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00007
NM_005529.7(HSPG2):c.10589G>A (p.Arg3530Gln) rs200062985 0.00007
NM_005529.7(HSPG2):c.4227G>A (p.Ala1409=) rs369731617 0.00007
NM_005529.7(HSPG2):c.6660G>C (p.Val2220=) rs368431013 0.00007
NM_006031.6(PCNT):c.1236T>C (p.His412=) rs769637090 0.00007
NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln) rs756810982 0.00007
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136 0.00007
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys) rs748260212 0.00007
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322 0.00007
NM_006129.5(BMP1):c.2730G>A (p.Glu910=) rs574472338 0.00007
NM_006182.4(DDR2):c.2253C>T (p.Ile751=) rs768825317 0.00007
NM_006371.5(CRTAP):c.131T>C (p.Leu44Pro) rs772784211 0.00007
NM_006371.5(CRTAP):c.13C>A (p.Arg5Ser) rs758652009 0.00007
NM_006371.5(CRTAP):c.724G>A (p.Glu242Lys) rs147836108 0.00007
NM_006371.5(CRTAP):c.851T>C (p.Val284Ala) rs747772727 0.00007
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu) rs778899637 0.00007
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 0.00007
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661 0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_018475.5(TMEM165):c.898+3A>G rs369436814 0.00007
NM_020779.4(WDR35):c.*1146T>C rs1036362475 0.00007
NM_020779.4(WDR35):c.*1207C>G rs1466981368 0.00007
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys) rs1420842472 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_020937.4(FANCM):c.122C>T (p.Pro41Leu) rs548726090 0.00007
NM_020937.4(FANCM):c.1366G>A (p.Val456Ile) rs779075398 0.00007
NM_020937.4(FANCM):c.140A>G (p.Glu47Gly) rs756402229 0.00007
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser) rs768676143 0.00007
NM_020937.4(FANCM):c.1742G>A (p.Arg581His) rs748083548 0.00007
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) rs147805461 0.00007
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe) rs773837264 0.00007
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu) rs148605513 0.00007
NM_020937.4(FANCM):c.3469G>A (p.Glu1157Lys) rs374461604 0.00007
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro) rs143681767 0.00007
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His) rs776506025 0.00007
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe) rs202101508 0.00007
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly) rs773580818 0.00007
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys) rs763151358 0.00007
NM_021939.4(FKBP10):c.1556C>T (p.Pro519Leu) rs140883152 0.00007
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg) rs760732431 0.00007
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu) rs140976278 0.00007
NM_022458.4(LMBR1):c.*1172C>T rs1163939803 0.00007
NM_022725.4(FANCF):c.617C>T (p.Ala206Val) rs756213451 0.00007
NM_023110.3(FGFR1):c.-320C>T rs1356662413 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) rs201320006 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_032043.3(BRIP1):c.*477A>G rs1030551071 0.00007
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln) rs145859791 0.00007
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln) rs201009985 0.00007
NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg) rs112133511 0.00007
NM_032444.4(SLX4):c.192A>G (p.Lys64=) rs756720856 0.00007
NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys) rs375524355 0.00007
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp) rs199656607 0.00007
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr) rs370663234 0.00007
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys) rs765485426 0.00007
NM_032444.4(SLX4):c.5208C>T (p.Gly1736=) rs569225834 0.00007
NM_032444.4(SLX4):c.679G>A (p.Ala227Thr) rs147872182 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_058216.3(RAD51C):c.769C>G (p.Leu257Val) rs750551012 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_133433.4(NIPBL):c.1981T>C (p.Cys661Arg) rs746789978 0.00007
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00007
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530 0.00007
NM_133433.4(NIPBL):c.6954+3A>G rs769439754 0.00007
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_152281.3(GORAB):c.188A>G (p.Glu63Gly) rs200333798 0.00007
NM_152281.3(GORAB):c.522-9A>T rs185701616 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_181486.4(TBX5):c.1116G>A (p.Ser372=) rs763827720 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn) rs376526613 0.00007
NM_213599.3(ANO5):c.1760G>A (p.Gly587Glu) rs369600326 0.00007
NM_213599.3(ANO5):c.2569G>A (p.Val857Ile) rs1346740717 0.00007
NR_003051.3(RMRP):n.271T>C rs377349293 0.00007
NR_003051.4(RMRP):n.51C>T rs1030486815 0.00007
NC_000009.12:g.35657677G>A rs770577795 0.00006
NC_000009.12:g.35657704C>G rs569993924 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000088.4(COL1A1):c.*21G>C rs201085309 0.00006
NM_000088.4(COL1A1):c.*714C>T rs567392981 0.00006
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His) rs1800240 0.00006
NM_000089.4(COL1A2):c.2527G>A (p.Ala843Thr) rs112697991 0.00006
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala) rs751201659 0.00006
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542 0.00006
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630 0.00006
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) rs200278401 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile) rs142803502 0.00006
NM_000095.3(COMP):c.87C>T (p.Asp29=) rs759794906 0.00006
NM_000112.4(SLC26A2):c.*2003A>G rs886060237 0.00006
NM_000112.4(SLC26A2):c.*3580A>G rs148424806 0.00006
NM_000112.4(SLC26A2):c.*4064dup rs886060247 0.00006
NM_000112.4(SLC26A2):c.*4224A>G rs777116235 0.00006
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro) rs141798540 0.00006
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile) rs774948790 0.00006
NM_000135.4(FANCA):c.1226-4C>G rs934483477 0.00006
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr) rs752587443 0.00006
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744 0.00006
NM_000135.4(FANCA):c.2778+83C>T rs750997715 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590 0.00006
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00006
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928 0.00006
NM_000136.3(FANCC):c.*1649A>G rs560444013 0.00006
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro) rs587779903 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182 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_000136.3(FANCC):c.974C>T (p.Ala325Val) rs367618818 0.00006
NM_000141.5(FGFR2):c.-371C>T rs527570655 0.00006
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00006
NM_000316.3(PTH1R):c.543+4C>T rs199829955 0.00006
NM_000316.3(PTH1R):c.629C>T (p.Ala210Val) rs773638342 0.00006
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872 0.00006
NM_000346.4(SOX9):c.1330G>A (p.Asp444Asn) rs551719325 0.00006
NM_000346.4(SOX9):c.914G>C (p.Gly305Ala) rs143697828 0.00006
NM_000396.3(CTSK):c.-72T>C rs187955801 0.00006
NM_000474.4(TWIST1):c.152G>T (p.Gly51Val) rs1305059157 0.00006
NM_000493.4(COL10A1):c.*137C>T rs746478358 0.00006
NM_000493.4(COL10A1):c.430C>T (p.Pro144Ser) rs752540751 0.00006
NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser) rs752314022 0.00006
NM_001013693.3(LDLRAD2):c.*277G>A rs774542904 0.00006
NM_001015880.2(PAPSS2):c.1513C>T (p.Arg505Trp) rs200630383 0.00006
NM_001015880.2(PAPSS2):c.1774G>A (p.Glu592Lys) rs374912864 0.00006
NM_001018115.3(FANCD2):c.-33-13G>A rs113338938 0.00006
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949 0.00006
NM_001018115.3(FANCD2):c.1546-8T>C rs530202330 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.2859+13C>G rs376913349 0.00006
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln) rs755748094 0.00006
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His) rs566769898 0.00006
NM_001018115.3(FANCD2):c.4186-13C>T rs755767180 0.00006
NM_001018115.3(FANCD2):c.4281+257C>T rs886057694 0.00006
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met) rs530125285 0.00006
NM_001024630.4(RUNX2):c.*69G>T rs562720936 0.00006
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu) rs771745973 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001040167.2(LFNG):c.1063G>A (p.Asp355Asn) rs780649312 0.00006
NM_001040167.2(LFNG):c.1123C>T (p.Arg375Cys) rs746683505 0.00006
NM_001040167.2(LFNG):c.266G>T (p.Gly89Val) rs938320862 0.00006
NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg) rs758997792 0.00006
NM_001040167.2(LFNG):c.673G>A (p.Val225Ile) rs76051534 0.00006
NM_001040167.2(LFNG):c.823G>A (p.Gly275Arg) rs771781393 0.00006
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly) rs149008055 0.00006
NM_001113378.2(FANCI):c.1112+3A>G rs367970067 0.00006
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg) rs377227097 0.00006
NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe) rs745308624 0.00006
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys) rs1414995711 0.00006
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647 0.00006
NM_001113378.2(FANCI):c.2292-11G>C rs763570868 0.00006
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly) rs768500794 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln) rs142322239 0.00006
NM_001113378.2(FANCI):c.288+10C>T rs370505986 0.00006
NM_001113378.2(FANCI):c.288+3A>G rs538283826 0.00006
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672 0.00006
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) rs779604966 0.00006
NM_001113525.2(ZNF276):c.*2634C>T rs34476949 0.00006
NM_001113525.2(ZNF276):c.1753A>G (p.Lys585Glu) rs771942409 0.00006
NM_001127671.2(LIFR):c.*10C>T rs764112814 0.00006
NM_001127671.2(LIFR):c.*5107A>G rs1035465616 0.00006
NM_001127671.2(LIFR):c.*5184G>A rs886060609 0.00006
NM_001127671.2(LIFR):c.*933G>A rs578231637 0.00006
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) rs142392717 0.00006
NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala) rs764878525 0.00006
NM_001128225.3(SLC39A13):c.1043G>A (p.Arg348His) rs770908923 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001130144.3(LTBP3):c.1481C>T (p.Pro494Leu) rs368007426 0.00006
NM_001130144.3(LTBP3):c.1645C>G (p.Pro549Ala) rs145060640 0.00006
NM_001130144.3(LTBP3):c.2255G>A (p.Ser752Asn) rs369066686 0.00006
NM_001130144.3(LTBP3):c.3546G>C (p.Ala1182=) rs569342451 0.00006
NM_001130144.3(LTBP3):c.3685G>A (p.Val1229Met) rs755974556 0.00006
NM_001159773.2(CANT1):c.*748T>A rs748455061 0.00006
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile) rs199516699 0.00006
NM_001174147.2(LMX1B):c.*1676G>A rs886063431 0.00006
NM_001174147.2(LMX1B):c.*230C>T rs531744651 0.00006
NM_001174147.2(LMX1B):c.*2620G>A rs950531780 0.00006
NM_001174147.2(LMX1B):c.*3385C>A rs886063440 0.00006
NM_001174147.2(LMX1B):c.*4157C>T rs185290341 0.00006
NM_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp) rs780280883 0.00006
NM_001235.3(SERPINH1):c.-185T>C rs886048660 0.00006
NM_001235.5(SERPINH1):c.*354G>T rs541972599 0.00006
NM_001235.5(SERPINH1):c.*4C>G rs550152153 0.00006
NM_001235.5(SERPINH1):c.1152C>T (p.Ala384=) rs368586977 0.00006
NM_001235.5(SERPINH1):c.1208T>C (p.Ile403Thr) rs201566218 0.00006
NM_001271938.2(MEGF8):c.1391-3C>T rs377586547 0.00006
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln) rs146355445 0.00006
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys) rs762398666 0.00006
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr) rs777483950 0.00006
NM_001271938.2(MEGF8):c.5353C>T (p.Arg1785Trp) rs772299336 0.00006
NM_001271938.2(MEGF8):c.5812C>T (p.His1938Tyr) rs757924699 0.00006
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) rs372350131 0.00006
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr) rs373293709 0.00006
NM_001330677.2(TBX15):c.1208C>T (p.Ala403Val) rs755307688 0.00006
NM_001353214.3(DYM):c.*123G>A rs886053843 0.00006
NM_001361.5(DHODH):c.*795C>T rs1042981090 0.00006
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766 0.00006
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.1990G>A (p.Val664Met) rs551617843 0.00006
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met) rs370333257 0.00006
NM_001379081.2(FREM1):c.1394-15T>C rs762215552 0.00006
NM_001379081.2(FREM1):c.2795G>A (p.Arg932His) rs763918482 0.00006
NM_001379081.2(FREM1):c.3542A>T (p.Asp1181Val) rs200883446 0.00006
NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala) rs370677344 0.00006
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) rs377565472 0.00006
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809 0.00006
NM_001384732.1(CPLANE1):c.1303A>G (p.Met435Val) rs1184764389 0.00006
NM_001384732.1(CPLANE1):c.1371+5A>G rs794727005 0.00006
NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met) rs529419886 0.00006
NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala) rs759558910 0.00006
NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg) rs556705113 0.00006
NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu) rs202140926 0.00006
NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys) rs371374142 0.00006
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 0.00006
NM_001793.6(CDH3):c.1593G>A (p.Thr531=) rs147208782 0.00006
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn) rs535174122 0.00006
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe) rs373974671 0.00006
NM_001844.5(COL2A1):c.*373G>C rs990523451 0.00006
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001852.4(COL9A2):c.*230C>T rs1057515525 0.00006
NM_001852.4(COL9A2):c.*683G>A rs1057515565 0.00006
NM_001852.4(COL9A2):c.-27C>A rs375579300 0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg) rs376722979 0.00006
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser) rs34990115 0.00006
NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu) rs376779544 0.00006
NM_001854.4(COL11A1):c.*876G>A rs562885468 0.00006
NM_001854.4(COL11A1):c.1899+3A>G rs374676938 0.00006
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795 0.00006
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018 0.00006
NM_002010.3(FGF9):c.*1903C>T rs886050058 0.00006
NM_002010.3(FGF9):c.*2186T>A rs199639996 0.00006
NM_002010.3(FGF9):c.*566T>A rs184771986 0.00006
NM_002010.3(FGF9):c.*737G>A rs886050056 0.00006
NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser) rs774097621 0.00006
NM_002335.4(LRP5):c.1642A>G (p.Ile548Val) rs201576246 0.00006
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) rs759674127 0.00006
NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile) rs376914943 0.00006
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys) rs377258285 0.00006
NM_002335.4(LRP5):c.4566G>A (p.Pro1522=) rs368178411 0.00006
NM_002335.4(LRP5):c.4610C>T (p.Ala1537Val) rs753256748 0.00006
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu) rs377323023 0.00006
NM_002381.5(MATN3):c.223+8C>A rs993108436 0.00006
NM_002427.4(MMP13):c.*13A>T rs372513971 0.00006
NM_002427.4(MMP13):c.*852C>T rs532528718 0.00006
NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?) rs781838470 0.00006
NM_002427.4(MMP13):c.652C>G (p.Leu218Val) rs782177947 0.00006
NM_002448.3(MSX1):c.817G>A (p.Gly273Ser) rs184700656 0.00006
NM_002449.5(MSX2):c.*106C>T rs747163618 0.00006
NM_002449.5(MSX2):c.*465C>T rs554165494 0.00006
NM_002449.5(MSX2):c.*526T>C rs532200136 0.00006
NM_002449.5(MSX2):c.*863A>G rs886060431 0.00006
NM_002615.7(SERPINF1):c.439+7C>T rs766814533 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_002734.5(PRKAR1A):c.*156C>T rs535007635 0.00006
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109 0.00006
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003036.4(SKI):c.247C>T (p.Pro83Ser) rs201590284 0.00006
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_003052.5(SLC34A1):c.56G>A (p.Arg19His) rs765766600 0.00006
NM_003722.5(TP63):c.*2009T>C rs886058236 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_004239.4(TRIP11):c.*544C>T rs528182792 0.00006
NM_004239.4(TRIP11):c.2303A>G (p.Asn768Ser) rs140780067 0.00006
NM_004239.4(TRIP11):c.3161T>G (p.Val1054Gly) rs552345466 0.00006
NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile) rs199834800 0.00006
NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=) rs762580256 0.00006
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1207T>C (p.Cys403Arg) rs754788578 0.00006
NM_004260.4(RECQL4):c.1253G>C (p.Arg418Pro) rs548957135 0.00006
NM_004260.4(RECQL4):c.175C>T (p.Leu59Phe) rs752508496 0.00006
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp) rs766726409 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2200+4C>T rs776670526 0.00006
NM_004260.4(RECQL4):c.2200+5G>A rs770855894 0.00006
NM_004260.4(RECQL4):c.2273G>A (p.Arg758Gln) rs748416710 0.00006
NM_004260.4(RECQL4):c.2299G>A (p.Val767Met) rs775137905 0.00006
NM_004260.4(RECQL4):c.2434G>A (p.Ala812Thr) rs372372052 0.00006
NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln) rs770800467 0.00006
NM_004260.4(RECQL4):c.2485C>T (p.Arg829Cys) rs1470516114 0.00006
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) rs373763805 0.00006
NM_004260.4(RECQL4):c.3065G>A (p.Arg1022His) rs560476442 0.00006
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132 0.00006
NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys) rs776023102 0.00006
NM_004260.4(RECQL4):c.3361G>A (p.Asp1121Asn) rs377390897 0.00006
NM_004260.4(RECQL4):c.3502G>A (p.Gly1168Arg) rs781543298 0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) rs540719285 0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004260.4(RECQL4):c.961G>A (p.Gly321Arg) rs748212145 0.00006
NM_004273.5(CHST3):c.*1042C>G rs886047165 0.00006
NM_004273.5(CHST3):c.*1385T>C rs757821498 0.00006
NM_004273.5(CHST3):c.*2830G>A rs940040640 0.00006
NM_004273.5(CHST3):c.*3857G>A rs537395654 0.00006
NM_004273.5(CHST3):c.*4556A>G rs745789120 0.00006
NM_004273.5(CHST3):c.*887A>G rs555113303 0.00006
NM_004273.5(CHST3):c.269T>C (p.Leu90Pro) rs138203946 0.00006
NM_004282.4(BAG2):c.*4604_*4606dup rs886061651 0.00006
NM_004629.2(FANCG):c.-19G>A rs762155734 0.00006
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp) rs183777537 0.00006
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys) rs368098479 0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) rs17878854 0.00006
NM_004629.2(FANCG):c.464G>A (p.Arg155His) rs201099560 0.00006
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp) rs574511407 0.00006
NM_004629.2(FANCG):c.766C>T (p.His256Tyr) rs753955326 0.00006
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr) rs752346718 0.00006
NM_004836.7(EIF2AK3):c.*99C>T rs771892864 0.00006
NM_004836.7(EIF2AK3):c.-17C>G rs755314163 0.00006
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208 0.00006
NM_004836.7(EIF2AK3):c.68T>G (p.Leu23Arg) rs886056418 0.00006
NM_005105.5(RBM8A):c.68-3C>T rs782317879 0.00006
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe) rs552142099 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) rs187435008 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.260G>A (p.Arg87His) rs371487368 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_005445.4(SMC3):c.-115T>C rs886046691 0.00006
NM_005445.4(SMC3):c.1670+6_1670+7insAAC rs766155607 0.00006
NM_005515.4(MNX1):c.509C>G (p.Ala170Gly) rs746725337 0.00006
NM_005529.7(HSPG2):c.10096C>T (p.Arg3366Trp) rs139956831 0.00006
NM_005529.7(HSPG2):c.10144G>A (p.Val3382Ile) rs147177951 0.00006
NM_005529.7(HSPG2):c.10325C>T (p.Pro3442Leu) rs763711047 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_005529.7(HSPG2):c.13172C>T (p.Ser4391Leu) rs961325868 0.00006
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=) rs187648591 0.00006
NM_005529.7(HSPG2):c.1508-9G>A rs538216424 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.3183+10A>T rs368807853 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.7606G>A (p.Val2536Ile) rs372633230 0.00006
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg) rs375390882 0.00006
NM_005529.7(HSPG2):c.8759-13C>T rs139605410 0.00006
NM_005816.5(CD96):c.*844A>G rs886057776 0.00006
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) rs761540486 0.00006
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met) rs201895762 0.00006
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg) rs776223654 0.00006
NM_006031.6(PCNT):c.267+3A>G rs771971500 0.00006
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804 0.00006
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) rs193261408 0.00006
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn) rs775413533 0.00006
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg) rs200137805 0.00006
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) rs374300652 0.00006
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser) rs371054707 0.00006
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met) rs780988556 0.00006
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) rs568559091 0.00006
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566 0.00006
NM_006129.5(BMP1):c.1754G>A (p.Arg585His) rs370064009 0.00006
NM_006129.5(BMP1):c.178G>A (p.Glu60Lys) rs886062818 0.00006
NM_006182.4(DDR2):c.494G>A (p.Arg165Gln) rs200233661 0.00006
NM_006371.5(CRTAP):c.*238G>A rs886058348 0.00006
NM_006371.5(CRTAP):c.*5048G>A rs886058376 0.00006
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) rs146209687 0.00006
NM_012330.4(KAT6B):c.1675A>G (p.Lys559Glu) rs182593735 0.00006
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) rs766989154 0.00006
NM_012330.4(KAT6B):c.3559C>T (p.Pro1187Ser) rs370725802 0.00006
NM_012330.4(KAT6B):c.4118A>G (p.Glu1373Gly) rs373140884 0.00006
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00006
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln) rs773473193 0.00006
NM_012463.4(ATP6V0A2):c.*1252A>G rs141136421 0.00006
NM_012463.4(ATP6V0A2):c.*1799A>C rs755729836 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_014140.4(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120 0.00006
NM_014140.4(SMARCAL1):c.1342A>G (p.Ile448Val) rs370689030 0.00006
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014762.4(DHCR24):c.*2119C>T rs886046414 0.00006
NM_015139.3(SLC35D1):c.325-3T>C rs762963339 0.00006
NM_015139.3(SLC35D1):c.955A>G (p.Ile319Val) rs199878087 0.00006
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg) rs151123934 0.00006
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) rs780304630 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) rs776515230 0.00006
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg) rs1397413424 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_018062.4(FANCL):c.273+7A>C rs745366278 0.00006
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn) rs770368316 0.00006
NM_018062.4(FANCL):c.335C>T (p.Ser112Leu) rs756590256 0.00006
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser) rs144057264 0.00006
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp) rs772025061 0.00006
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln) rs150255709 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020297.4(ABCC9):c.882G>A (p.Gly294=) rs764574133 0.00006
NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser) rs549741547 0.00006
NM_020436.5(SALL4):c.318C>T (p.Ser106=) rs371144604 0.00006
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val) rs371757004 0.00006
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn) rs778732776 0.00006
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile) rs377535267 0.00006
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val) rs754516323 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_020779.4(WDR35):c.817T>G (p.Phe273Val) rs370377789 0.00006
NM_020812.4(DOCK6):c.4198G>A (p.Val1400Met) rs201255040 0.00006
NM_020928.2(ZSWIM6):c.31G>A (p.Ala11Thr) rs1038709799 0.00006
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln) rs530233908 0.00006
NM_020937.4(FANCM):c.1222G>C (p.Asp408His) rs199929558 0.00006
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151 0.00006
NM_020937.4(FANCM):c.187G>A (p.Glu63Lys) rs768419961 0.00006
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045 0.00006
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val) rs573485502 0.00006
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly) rs746030136 0.00006
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly) rs763808637 0.00006
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala) rs774044128 0.00006
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys) rs139376041 0.00006
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00006
NM_020937.4(FANCM):c.5770A>T (p.Thr1924Ser) rs747103379 0.00006
NM_020937.4(FANCM):c.6041T>C (p.Val2014Ala) rs374376462 0.00006
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr) rs150447576 0.00006
NM_021625.5(TRPV4):c.*405G>A rs886048937 0.00006
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr) rs1225225979 0.00006
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr) rs377415237 0.00006
NM_021922.3(FANCE):c.17C>T (p.Ala6Val) rs1019486578 0.00006
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp) rs759034838 0.00006
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp) rs765538271 0.00006
NM_021922.3(FANCE):c.552A>C (p.Pro184=) rs138182352 0.00006
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys) rs142746353 0.00006
NM_021939.4(FKBP10):c.268G>A (p.Ala90Thr) rs1242462441 0.00006
NM_021939.4(FKBP10):c.309C>T (p.Asp103=) rs199576301 0.00006
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys) rs770518721 0.00006
NM_022166.4(XYLT1):c.1764+4A>G rs757836390 0.00006
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr) rs770446499 0.00006
NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln) rs190383164 0.00006
NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr) rs780303292 0.00006
NM_022166.4(XYLT1):c.358G>A (p.Ala120Thr) rs769122570 0.00006
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His) rs374202040 0.00006
NM_022168.4(IFIH1):c.371C>A (p.Thr124Asn) rs768520868 0.00006
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793 0.00006
NM_022356.4(P3H1):c.1224G>A (p.Lys408=) rs778202277 0.00006
NM_022356.4(P3H1):c.1579G>A (p.Glu527Lys) rs962784379 0.00006
NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys) rs150808079 0.00006
NM_022458.4(LMBR1):c.*1358C>T rs150263103 0.00006
NM_022458.4(LMBR1):c.*2706A>G rs775444879 0.00006
NM_022725.4(FANCF):c.*1535T>A rs886048151 0.00006
NM_022725.4(FANCF):c.404G>T (p.Arg135Leu) rs759515146 0.00006
NM_022725.4(FANCF):c.887G>T (p.Gly296Val) rs571674814 0.00006
NM_023110.3(FGFR1):c.-555G>A rs901616183 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.2292+3A>G rs747737281 0.00006
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu) rs536644825 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_031296.2(RAB33B):c.-255C>T rs886059074 0.00006
NM_031296.3(RAB33B):c.*1310G>A rs886059082 0.00006
NM_031296.3(RAB33B):c.*701G>T rs187434569 0.00006
NM_032043.3(BRIP1):c.-22C>A rs377620948 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 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.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032444.4(SLX4):c.-19G>A rs113845637 0.00006
NM_032444.4(SLX4):c.-395C>T rs886051984 0.00006
NM_032444.4(SLX4):c.-41A>G rs772911988 0.00006
NM_032444.4(SLX4):c.-46G>A rs113023461 0.00006
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu) rs200363140 0.00006
NM_032444.4(SLX4):c.1160T>A (p.Phe387Tyr) rs767298613 0.00006
NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys) rs146021821 0.00006
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val) rs773539191 0.00006
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln) rs145194745 0.00006
NM_032444.4(SLX4):c.1455C>A (p.Asp485Glu) rs150053867 0.00006
NM_032444.4(SLX4):c.1702G>A (p.Val568Met) rs371825444 0.00006
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val) rs746717279 0.00006
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val) rs201622632 0.00006
NM_032444.4(SLX4):c.258A>G (p.Ile86Met) rs112205823 0.00006
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr) rs148428054 0.00006
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile) rs781323142 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp) rs769271628 0.00006
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) rs150453226 0.00006
NM_032444.4(SLX4):c.3844C>T (p.Leu1282=) rs772652088 0.00006
NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg) rs926938694 0.00006
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=) rs139254595 0.00006
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser) rs551385115 0.00006
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670 0.00006
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His) rs201036767 0.00006
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln) rs373558741 0.00006
NM_032444.4(SLX4):c.996G>T (p.Gln332His) rs377201471 0.00006
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.273-268A>T rs376246143 0.00006
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser) rs555281580 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_058216.3(RAD51C):c.1108C>T (p.Arg370Ter) rs756744016 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.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala) rs555936455 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His) rs772567850 0.00006
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His) rs749716412 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133433.4(NIPBL):c.6589+9A>T rs370709104 0.00006
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00006
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr) rs146837459 0.00006
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00006
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00006
NM_152281.3(GORAB):c.1064G>T (p.Cys355Phe) rs149089833 0.00006
NM_152281.3(GORAB):c.952G>A (p.Val318Met) rs199673882 0.00006
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00006
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_182943.3(PLOD2):c.*759T>C rs192883327 0.00006
NM_182943.3(PLOD2):c.1457A>G (p.Lys486Arg) rs760876151 0.00006
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val) rs558336915 0.00006
NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr) rs769897141 0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg) rs530857183 0.00006
NM_213599.3(ANO5):c.1214A>G (p.Gln405Arg) rs918732999 0.00006
NM_213599.3(ANO5):c.1933C>T (p.Arg645Trp) rs139303302 0.00006
NM_213599.3(ANO5):c.674C>T (p.Pro225Leu) rs757947963 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NR_003051.4(RMRP):n.116G>A rs747605028 0.00006
NR_003051.4(RMRP):n.56C>T rs1032219537 0.00006
NM_000059.4(BRCA2):c.*134C>T rs1228334381 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000088.4(COL1A1):c.*1151C>T rs536196631 0.00005
NM_000088.4(COL1A1):c.*1205C>G rs551536386 0.00005
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720 0.00005
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala) rs760732696 0.00005
NM_000089.4(COL1A2):c.3691A>G (p.Thr1231Ala) rs201560619 0.00005
NM_000089.4(COL1A2):c.382C>T (p.Pro128Ser) rs774774401 0.00005
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=) rs926855674 0.00005
NM_000089.4(COL1A2):c.3938T>C (p.Leu1313Pro) rs780400987 0.00005
NM_000089.4(COL1A2):c.701G>A (p.Arg234His) rs376341785 0.00005
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.2015-5C>T rs780349960 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.2152-13T>C rs752105563 0.00005
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser) rs751015814 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) rs376302719 0.00005
NM_000135.4(FANCA):c.2778+10C>T rs371786839 0.00005
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151 0.00005
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377 0.00005
NM_000136.3(FANCC):c.*884C>T rs1038927110 0.00005
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu) rs200719554 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.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) rs185822330 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) rs200854639 0.00005
NM_000136.3(FANCC):c.897-8T>C rs878853673 0.00005
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494 0.00005
NM_000192.3(TBX5):c.-132G>A rs1280865262 0.00005
NM_000316.3(PTH1R):c.1112T>C (p.Ile371Thr) rs140414216 0.00005
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala) rs201878291 0.00005
NM_000346.4(SOX9):c.654G>A (p.Met218Ile) rs747366415 0.00005
NM_000396.4(CTSK):c.*467A>G rs201446377 0.00005
NM_000478.6(ALPL):c.910G>A (p.Val304Met) rs745704006 0.00005
NM_001011658.4(TRAPPC2):c.*1287G>T rs1165831875 0.00005
NM_001011658.4(TRAPPC2):c.*308G>A rs1457504825 0.00005
NM_001011658.4(TRAPPC2):c.*323T>G rs1057515792 0.00005
NM_001011658.4(TRAPPC2):c.*435A>G rs368897746 0.00005
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) rs373141774 0.00005
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) rs756392097 0.00005
NM_001018115.3(FANCD2):c.1373A>G (p.Tyr458Cys) rs535519170 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_001018115.3(FANCD2):c.696-11A>G rs376488313 0.00005
NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu) rs752880854 0.00005
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp) rs778865461 0.00005
NM_001024630.4(RUNX2):c.*1673G>A rs944231481 0.00005
NM_001040167.2(LFNG):c.737G>A (p.Arg246His) rs374389689 0.00005
NM_001104631.2(PDE4D):c.*2383G>A rs185766952 0.00005
NM_001104631.2(PDE4D):c.*3875G>A rs886060704 0.00005
NM_001104631.2(PDE4D):c.*3892G>A rs1046069326 0.00005
NM_001104631.2(PDE4D):c.*5283A>G rs866638632 0.00005
NM_001113378.2(FANCI):c.1113-10G>C rs756650711 0.00005
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) rs573652425 0.00005
NM_001113378.2(FANCI):c.1891-3C>T rs371578898 0.00005
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg) rs772035961 0.00005
NM_001127671.2(LIFR):c.*1968A>C rs759458908 0.00005
NM_001127671.2(LIFR):c.1972G>A (p.Val658Ile) rs199637361 0.00005
NM_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr) rs374739509 0.00005
NM_001130144.3(LTBP3):c.3103G>A (p.Val1035Met) rs200797100 0.00005
NM_001130144.3(LTBP3):c.3460G>A (p.Gly1154Arg) rs558144911 0.00005
NM_001159773.2(CANT1):c.*445G>A rs149131650 0.00005
NM_001159773.2(CANT1):c.119G>A (p.Arg40His) rs375819727 0.00005
NM_001159773.2(CANT1):c.969C>T (p.Ala323=) rs751735028 0.00005
NM_001174147.2(LMX1B):c.*18G>A rs755294493 0.00005
NM_001174147.2(LMX1B):c.*4466C>A rs918457009 0.00005
NM_001174147.2(LMX1B):c.*44G>T rs773048475 0.00005
NM_001174147.2(LMX1B):c.742-6A>T rs554576629 0.00005
NM_001174147.2(LMX1B):c.742-7G>C rs534963836 0.00005
NM_001235.5(SERPINH1):c.336C>T (p.Gly112=) rs775801195 0.00005
NM_001271938.2(MEGF8):c.3841C>T (p.Arg1281Trp) rs371283114 0.00005
NM_001271938.2(MEGF8):c.4028C>T (p.Ala1343Val) rs746330794 0.00005
NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys) rs142361779 0.00005
NM_001271938.2(MEGF8):c.5257C>T (p.Arg1753Trp) rs139859934 0.00005
NM_001271938.2(MEGF8):c.7589C>T (p.Pro2530Leu) rs769598183 0.00005
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln) rs766621187 0.00005
NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter) rs748668786 0.00005
NM_001330677.2(TBX15):c.752T>C (p.Phe251Ser) rs199611902 0.00005
NM_001361.5(DHODH):c.*372C>T rs140832357 0.00005
NM_001361.5(DHODH):c.154G>C (p.Glu52Gln) rs368395651 0.00005
NM_001374353.1(GLI2):c.1367G>A (p.Arg456His) rs150170739 0.00005
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile) rs761857488 0.00005
NM_001384732.1(CPLANE1):c.3100A>G (p.Ile1034Val) rs965483152 0.00005
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456 0.00005
NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del) rs886043021 0.00005
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp) rs142792453 0.00005
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu) rs368472521 0.00005
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr) rs145203128 0.00005
NM_001793.6(CDH3):c.2227A>G (p.Met743Val) rs367654075 0.00005
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=) rs576190086 0.00005
NM_001793.6(CDH3):c.547-12T>C rs370978420 0.00005
NM_001844.5(COL2A1):c.1680+8G>T rs754310324 0.00005
NM_001844.5(COL2A1):c.1680+9C>A rs371857655 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_001852.4(COL9A2):c.407G>A (p.Arg136Gln) rs751212530 0.00005
NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu) rs199831035 0.00005
NM_002335.4(LRP5):c.2393C>T (p.Thr798Met) rs371155552 0.00005
NM_002335.4(LRP5):c.2827+5G>A rs373365240 0.00005
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met) rs371173423 0.00005
NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu) rs148725079 0.00005
NM_002335.4(LRP5):c.4791G>C (p.Glu1597Asp) rs142508112 0.00005
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu) rs200384949 0.00005
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp) rs774648274 0.00005
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_003722.5(TP63):c.*1472A>G rs375551286 0.00005
NM_003722.5(TP63):c.992+9C>T rs369838833 0.00005
NM_003995.4(NPR2):c.1386C>T (p.Gly462=) rs148067831 0.00005
NM_003995.4(NPR2):c.2362C>T (p.Arg788Cys) rs761484215 0.00005
NM_003995.4(NPR2):c.863A>G (p.Glu288Gly) rs765509984 0.00005
NM_004239.4(TRIP11):c.-265C>A rs532470754 0.00005
NM_004239.4(TRIP11):c.2043G>T (p.Lys681Asn) rs745781387 0.00005
NM_004239.4(TRIP11):c.307A>C (p.Lys103Gln) rs147048571 0.00005
NM_004239.4(TRIP11):c.484A>T (p.Met162Leu) rs553843359 0.00005
NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln) rs746390355 0.00005
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) rs886050908 0.00005
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln) rs549497811 0.00005
NM_004260.4(RECQL4):c.1826G>A (p.Cys609Tyr) rs939040910 0.00005
NM_004260.4(RECQL4):c.1871T>C (p.Val624Ala) rs370912793 0.00005
NM_004260.4(RECQL4):c.2058+6T>C rs759290373 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.215C>T (p.Ala72Val) rs763453097 0.00005
NM_004260.4(RECQL4):c.2176G>A (p.Ala726Thr) rs766748490 0.00005
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706 0.00005
NM_004260.4(RECQL4):c.3011G>A (p.Arg1004Gln) rs750261857 0.00005
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004260.4(RECQL4):c.3515A>G (p.Tyr1172Cys) rs779070043 0.00005
NM_004260.4(RECQL4):c.3544C>T (p.Arg1182Cys) rs376981214 0.00005
NM_004260.4(RECQL4):c.386C>T (p.Pro129Leu) rs370624395 0.00005
NM_004260.4(RECQL4):c.455C>T (p.Ala152Val) rs774699880 0.00005
NM_004260.4(RECQL4):c.778G>A (p.Glu260Lys) rs370919817 0.00005
NM_004273.5(CHST3):c.*1621C>G rs768478124 0.00005
NM_004273.5(CHST3):c.-131G>A rs886047158 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu) rs186641344 0.00005
NM_004629.2(FANCG):c.704C>T (p.Ala235Val) rs574975594 0.00005
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_004836.6(EIF2AK3):c.-263T>C rs762232975 0.00005
NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser) rs150474217 0.00005
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282 0.00005
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn) rs1238124123 0.00005
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) rs150291286 0.00005
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu) rs750999717 0.00005
NM_005529.7(HSPG2):c.10981C>T (p.Arg3661Trp) rs746678863 0.00005
NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=) rs145093233 0.00005
NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile) rs147810145 0.00005
NM_005529.7(HSPG2):c.4654G>A (p.Gly1552Arg) rs746057768 0.00005
NM_005529.7(HSPG2):c.5657G>A (p.Arg1886His) rs370745167 0.00005
NM_005529.7(HSPG2):c.598A>T (p.Thr200Ser) rs199604790 0.00005
NM_005529.7(HSPG2):c.7130G>A (p.Arg2377His) rs191687773 0.00005
NM_005529.7(HSPG2):c.959-7C>T rs529027225 0.00005
NM_006031.6(PCNT):c.1181T>C (p.Ile394Thr) rs200545088 0.00005
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) rs200148867 0.00005
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His) rs201315836 0.00005
NM_006031.6(PCNT):c.389A>G (p.His130Arg) rs57046460 0.00005
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=) rs143064269 0.00005
NM_006031.6(PCNT):c.7180-7G>A rs201549624 0.00005
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu) rs769852846 0.00005
NM_006031.6(PCNT):c.7913+4C>T rs376736200 0.00005
NM_006129.5(BMP1):c.*503G>A rs1405985128 0.00005
NM_006129.5(BMP1):c.226C>T (p.Arg76Trp) rs201377252 0.00005
NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr) rs780689541 0.00005
NM_006182.4(DDR2):c.2003G>A (p.Arg668His) rs754868982 0.00005
NM_006182.4(DDR2):c.778C>T (p.Arg260Trp) rs200965319 0.00005
NM_006306.4(SMC1A):c.*1040G>A rs79382603 0.00005
NM_006306.4(SMC1A):c.*2050T>C rs1057515964 0.00005
NM_006306.4(SMC1A):c.*2225G>A rs1047323522 0.00005
NM_006306.4(SMC1A):c.*4998T>C rs899071356 0.00005
NM_006371.5(CRTAP):c.*422T>C rs763428960 0.00005
NM_006371.5(CRTAP):c.368A>G (p.Lys123Arg) rs767456804 0.00005
NM_006371.5(CRTAP):c.499G>A (p.Ala167Thr) rs754568024 0.00005
NM_006371.5(CRTAP):c.62T>G (p.Leu21Arg) rs775265156 0.00005
NM_012330.4(KAT6B):c.5192G>C (p.Ser1731Thr) rs778770748 0.00005
NM_012463.4(ATP6V0A2):c.*643C>T rs377386130 0.00005
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His) rs141881295 0.00005
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) rs578123335 0.00005
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=) rs149510554 0.00005
NM_014762.4(DHCR24):c.*1073C>G rs1044074687 0.00005
NM_015330.6(SPECC1L):c.1619G>A (p.Arg540His) rs140698674 0.00005
NM_015631.6(TCTN3):c.488A>G (p.His163Arg) rs376756059 0.00005
NM_015884.4(MBTPS2):c.671-10C>G rs751755276 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs) rs750871999 0.00005
NM_018062.4(FANCL):c.343A>G (p.Ile115Val) rs149414332 0.00005
NM_018475.5(TMEM165):c.*627A>C rs541192339 0.00005
NM_018475.5(TMEM165):c.602A>G (p.Asp201Gly) rs372893311 0.00005
NM_020297.4(ABCC9):c.1374C>T (p.Val458=) rs200819464 0.00005
NM_020297.4(ABCC9):c.4512+777G>A rs542730918 0.00005
NM_020754.4(ARHGAP31):c.688C>T (p.Arg230Trp) rs200204811 0.00005
NM_020779.4(WDR35):c.*1957C>T rs947201612 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) rs201443916 0.00005
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys) rs779009587 0.00005
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser) rs1257244524 0.00005
NM_020937.4(FANCM):c.1328T>G (p.Phe443Cys) rs549724218 0.00005
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met) rs149473953 0.00005
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys) rs565347397 0.00005
NM_020937.4(FANCM):c.317A>G (p.Asn106Ser) rs550700790 0.00005
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met) rs151218879 0.00005
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro) rs751104662 0.00005
NM_021625.5(TRPV4):c.*411A>G rs924343915 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr) rs768911543 0.00005
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe) rs759124595 0.00005
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile) rs551170184 0.00005
NM_021922.3(FANCE):c.856-3C>T rs749111562 0.00005
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) rs201009902 0.00005
NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr) rs141257295 0.00005
NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln) rs765703210 0.00005
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) rs148540097 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.283A>G (p.Met95Val) rs777534095 0.00005
NM_022356.4(P3H1):c.807A>G (p.Thr269=) rs750943926 0.00005
NM_022458.4(LMBR1):c.*2088C>T rs185766032 0.00005
NM_022725.4(FANCF):c.*499T>C rs566136504 0.00005
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln) rs746602135 0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg) rs142343372 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_031296.3(RAB33B):c.201G>A (p.Gly67=) rs568007401 0.00005
NM_032043.3(BRIP1):c.*2692A>G rs886053204 0.00005
NM_032043.3(BRIP1):c.*659G>A rs769375960 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_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_032444.4(SLX4):c.*98A>G rs551538592 0.00005
NM_032444.4(SLX4):c.-602-6C>G rs886051986 0.00005
NM_032444.4(SLX4):c.1379G>A (p.Arg460His) rs369994733 0.00005
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys) rs139757085 0.00005
NM_032444.4(SLX4):c.1640C>T (p.Thr547Met) rs755156257 0.00005
NM_032444.4(SLX4):c.1941C>T (p.Pro647=) rs540288743 0.00005
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser) rs780269002 0.00005
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr) rs759223029 0.00005
NM_032444.4(SLX4):c.2259C>G (p.His753Gln) rs374294258 0.00005
NM_032444.4(SLX4):c.2612C>T (p.Ala871Val) rs138259798 0.00005
NM_032444.4(SLX4):c.2869A>T (p.Ser957Cys) rs776932605 0.00005
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys) rs138798067 0.00005
NM_032444.4(SLX4):c.3061C>T (p.Arg1021Cys) rs138344471 0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) rs140529288 0.00005
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys) rs569194362 0.00005
NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly) rs761238767 0.00005
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val) rs186036075 0.00005
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg) rs754996241 0.00005
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102 0.00005
NM_032444.4(SLX4):c.4567G>C (p.Glu1523Gln) rs148542931 0.00005
NM_032444.4(SLX4):c.461G>A (p.Arg154Gln) rs778404827 0.00005
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met) rs765601038 0.00005
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356 0.00005
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu) rs771200478 0.00005
NM_032444.4(SLX4):c.528A>T (p.Lys176Asn) rs778569160 0.00005
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys) rs371875095 0.00005
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys) rs762619200 0.00005
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp) rs199736788 0.00005
NM_032444.4(SLX4):c.668G>A (p.Arg223His) rs762475814 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.54C>T (p.Ile18=) rs139138308 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_058216.3(RAD51C):c.331C>T (p.Leu111Phe) rs1402638488 0.00005
NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val) rs142133113 0.00005
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr) rs558669120 0.00005
NM_080680.3(COL11A2):c.*544C>G rs199956729 0.00005
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) rs548592690 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_080680.3(COL11A2):c.579C>T (p.Ala193=) rs201054429 0.00005
NM_133433.4(NIPBL):c.*551G>C rs760747084 0.00005
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala) rs773534683 0.00005
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475 0.00005
NM_152281.3(GORAB):c.*653T>C rs886045556 0.00005
NM_152281.3(GORAB):c.*980A>T rs544243091 0.00005
NM_152281.3(GORAB):c.-48dup rs759432675 0.00005
NM_152281.3(GORAB):c.-57T>C rs188031069 0.00005
NM_152281.3(GORAB):c.461G>A (p.Arg154Gln) rs749838967 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_181486.4(TBX5):c.*1071C>T rs890525823 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_182943.3(PLOD2):c.*1049G>T rs576223865 0.00005
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met) rs372660203 0.00005
NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr) rs886054432 0.00005
NM_213599.3(ANO5):c.2611A>C (p.Met871Leu) rs189233047 0.00005
NM_213599.3(ANO5):c.533G>C (p.Ser178Thr) rs146725859 0.00005
NR_003051.4(RMRP):n.137C>T rs940224067 0.00005
NR_003051.4(RMRP):n.139C>T rs928825069 0.00005
NR_003051.4(RMRP):n.229C>T rs560328768 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NM_000059.4(BRCA2):c.*623C>T rs145550800 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.316+13A>G rs773097109 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000088.4(COL1A1):c.*285C>A rs990020766 0.00004
NM_000088.4(COL1A1):c.1721G>A (p.Arg574His) rs763788602 0.00004
NM_000088.4(COL1A1):c.1929+4A>C rs376244140 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly) rs746847841 0.00004
NM_000088.4(COL1A1):c.401T>A (p.Ile134Asn) rs771647906 0.00004
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) rs533127847 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.4214G>A (p.Arg1405His) rs770826227 0.00004
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740 0.00004
NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg) rs368447157 0.00004
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.1448C>A (p.Ala483Asp) rs414408 0.00004
NM_000089.4(COL1A2):c.220G>A (p.Gly74Ser) rs776365460 0.00004
NM_000089.4(COL1A2):c.2813G>A (p.Arg938His) rs746504964 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val) rs746794922 0.00004
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr) rs1034555044 0.00004
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu) rs1023594853 0.00004
NM_000089.4(COL1A2):c.378+6T>C rs752336890 0.00004
NM_000089.4(COL1A2):c.3835A>G (p.Met1279Val) rs775850964 0.00004
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser) rs193922170 0.00004
NM_000089.4(COL1A2):c.644C>T (p.Ala215Val) rs753438416 0.00004
NM_000089.4(COL1A2):c.71-7T>C rs774842422 0.00004
NM_000089.4(COL1A2):c.727G>A (p.Val243Met) rs764373659 0.00004
NM_000089.4(COL1A2):c.980G>A (p.Arg327His) rs764174111 0.00004
NM_000095.3(COMP):c.1803T>C (p.Phe601=) rs753120962 0.00004
NM_000095.3(COMP):c.763-6C>G rs886054303 0.00004
NM_000095.3(COMP):c.968A>G (p.Asn323Ser) rs367812050 0.00004
NM_000112.4(SLC26A2):c.*2212T>G rs777419320 0.00004
NM_000112.4(SLC26A2):c.*2232A>T rs1233972792 0.00004
NM_000112.4(SLC26A2):c.1192G>A (p.Val398Ile) rs374310335 0.00004
NM_000112.4(SLC26A2):c.1609T>C (p.Phe537Leu) rs762087746 0.00004
NM_000112.4(SLC26A2):c.566A>G (p.His189Arg) rs775447660 0.00004
NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile) rs199789515 0.00004
NM_000112.4(SLC26A2):c.956A>G (p.Lys319Arg) rs536416205 0.00004
NM_000135.4(FANCA):c.1359+5G>C rs183569738 0.00004
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171 0.00004
NM_000135.4(FANCA):c.1716-3C>T rs760855591 0.00004
NM_000135.4(FANCA):c.1777-15C>G rs371919426 0.00004
NM_000135.4(FANCA):c.1799G>A (p.Arg600His) rs775917892 0.00004
NM_000135.4(FANCA):c.189+5G>A rs373907502 0.00004
NM_000135.4(FANCA):c.189+7G>A rs369985388 0.00004
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355 0.00004
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) rs377442601 0.00004
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_000135.4(FANCA):c.2982-8C>G rs781331325 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val) rs368921238 0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu) rs576079738 0.00004
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000136.3(FANCC):c.*1197A>G rs1026341216 0.00004
NM_000136.3(FANCC):c.*1675A>G rs183099416 0.00004
NM_000136.3(FANCC):c.*1901C>T rs756111303 0.00004
NM_000136.3(FANCC):c.*2308G>A rs1042363957 0.00004
NM_000136.3(FANCC):c.-246A>G rs1000528763 0.00004
NM_000136.3(FANCC):c.1073-4G>A rs147695697 0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302 0.00004
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) rs752855423 0.00004
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00004
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr) rs950623649 0.00004
NM_000136.3(FANCC):c.626G>A (p.Arg209His) rs587778327 0.00004
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663 0.00004
NM_000136.3(FANCC):c.9A>T (p.Gln3His) rs769585639 0.00004
NM_000141.5(FGFR2):c.*874A>G rs55723405 0.00004
NM_000141.5(FGFR2):c.-535G>C rs886046767 0.00004
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054 0.00004
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) rs199740724 0.00004
NM_000316.3(PTH1R):c.1753C>G (p.Leu585Val) rs201474414 0.00004
NM_000316.3(PTH1R):c.662A>G (p.Tyr221Cys) rs200817639 0.00004
NM_000346.4(SOX9):c.187G>C (p.Glu63Gln) rs149852681 0.00004
NM_000396.4(CTSK):c.814G>A (p.Asp272Asn) rs201772791 0.00004
NM_000396.4(CTSK):c.816T>A (p.Asp272Glu) rs190892496 0.00004
NM_000478.6(ALPL):c.204G>A (p.Thr68=) rs537814225 0.00004
NM_000493.4(COL10A1):c.*455T>C rs1024360405 0.00004
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
NM_000942.5(PPIB):c.359G>A (p.Gly120Asp) rs568378169 0.00004
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys) rs553534590 0.00004
NM_001013693.3(LDLRAD2):c.*762G>T rs575761790 0.00004
NM_001015880.2(PAPSS2):c.1763A>C (p.Lys588Thr) rs753786042 0.00004
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met) rs373898927 0.00004
NM_001018115.3(FANCD2):c.1363A>G (p.Ser455Gly) rs112902928 0.00004
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) rs774801047 0.00004
NM_001018115.3(FANCD2):c.1802A>G (p.Asn601Ser) rs955122662 0.00004
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg) rs533245636 0.00004
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val) rs375415579 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile) rs764903036 0.00004
NM_001018115.3(FANCD2):c.2744C>T (p.Ser915Leu) rs181274599 0.00004
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu) rs1479681259 0.00004
NM_001018115.3(FANCD2):c.3106-13T>G rs759732362 0.00004
NM_001018115.3(FANCD2):c.3334A>G (p.Ser1112Gly) rs139929432 0.00004
NM_001018115.3(FANCD2):c.3343G>A (p.Val1115Ile) rs200800132 0.00004
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His) rs781701459 0.00004
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191 0.00004
NM_001018115.3(FANCD2):c.4186-5T>C rs763801603 0.00004
NM_001018115.3(FANCD2):c.4281+107T>C rs767893462 0.00004
NM_001018115.3(FANCD2):c.4281+534G>A rs886057696 0.00004
NM_001018115.3(FANCD2):c.595C>G (p.Leu199Val) rs756336462 0.00004
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001024630.4(RUNX2):c.*3052C>A rs1008736802 0.00004
NM_001024630.4(RUNX2):c.*3329T>C rs886061509 0.00004
NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu) rs768473049 0.00004
NM_001040167.2(LFNG):c.1124G>A (p.Arg375His) rs770669804 0.00004
NM_001040167.2(LFNG):c.661C>T (p.Arg221Trp) rs377387325 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001104631.2(PDE4D):c.*2369G>A rs796829320 0.00004
NM_001104631.2(PDE4D):c.*2999T>C rs200919800 0.00004
NM_001104631.2(PDE4D):c.*4513C>T rs886060703 0.00004
NM_001104631.2(PDE4D):c.*5000A>G rs886060702 0.00004
NM_001104631.2(PDE4D):c.*649T>G rs886060713 0.00004
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) rs375617990 0.00004
NM_001113378.2(FANCI):c.-56T>C rs374177639 0.00004
NM_001113378.2(FANCI):c.1512+3A>G rs760846523 0.00004
NM_001113378.2(FANCI):c.157+7A>G rs145165730 0.00004
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr) rs147963936 0.00004
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser) rs866290050 0.00004
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn) rs374176569 0.00004
NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly) rs757018470 0.00004
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343 0.00004
NM_001113378.2(FANCI):c.2146A>G (p.Ser716Gly) rs376641420 0.00004
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 0.00004
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val) rs750348956 0.00004
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) rs145665176 0.00004
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=) rs368915464 0.00004
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305 0.00004
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser) rs182154506 0.00004
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg) rs1207482417 0.00004
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747 0.00004
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) rs185771112 0.00004
NM_001113378.2(FANCI):c.3721-15G>A rs552581027 0.00004
NM_001113378.2(FANCI):c.3734G>T (p.Arg1245Leu) rs771758909 0.00004
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr) rs776134519 0.00004
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu) rs571745030 0.00004
NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala) rs773039171 0.00004
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile) rs199713555 0.00004
NM_001113525.2(ZNF276):c.*189C>T rs886052479 0.00004
NM_001113525.2(ZNF276):c.*313T>A rs529748804 0.00004
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys) rs373421600 0.00004
NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln) rs202048083 0.00004
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) rs994405607 0.00004
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) rs745548189 0.00004
NM_001128225.3(SLC39A13):c.1046C>T (p.Ser349Phe) rs376076637 0.00004
NM_001128225.3(SLC39A13):c.116G>A (p.Ser39Asn) rs775918761 0.00004
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp) rs368796707 0.00004
NM_001128225.3(SLC39A13):c.23G>T (p.Gly8Val) rs779570378 0.00004
NM_001128225.3(SLC39A13):c.314G>A (p.Arg105His) rs762900525 0.00004
NM_001128225.3(SLC39A13):c.491C>T (p.Ala164Val) rs914512778 0.00004
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189 0.00004
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr) rs370516835 0.00004
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val) rs754558033 0.00004
NM_001130144.3(LTBP3):c.1265G>A (p.Arg422His) rs143751614 0.00004
NM_001130144.3(LTBP3):c.1312G>A (p.Ala438Thr) rs368676768 0.00004
NM_001130144.3(LTBP3):c.1610G>A (p.Arg537Gln) rs779937464 0.00004
NM_001130144.3(LTBP3):c.2510T>C (p.Ile837Thr) rs570630736 0.00004
NM_001130144.3(LTBP3):c.2777C>T (p.Thr926Ile) rs199511147 0.00004
NM_001130144.3(LTBP3):c.3135C>A (p.Asn1045Lys) rs764995512 0.00004
NM_001130144.3(LTBP3):c.3243G>A (p.Met1081Ile) rs200968742 0.00004
NM_001159773.2(CANT1):c.-23+7A>G rs1332415937 0.00004
NM_001159773.2(CANT1):c.552G>A (p.Thr184=) rs762438787 0.00004
NM_001159773.2(CANT1):c.819C>T (p.Ala273=) rs571979064 0.00004
NM_001173467.3(SP7):c.1184G>A (p.Arg395His) rs369792296 0.00004
NM_001174147.2(LMX1B):c.*1266T>G rs558658509 0.00004
NM_001174147.2(LMX1B):c.*3464G>A rs920113788 0.00004
NM_001174147.2(LMX1B):c.*3765A>C rs886063444 0.00004
NM_001174147.2(LMX1B):c.*681C>T rs138360048 0.00004
NM_001174147.2(LMX1B):c.349G>A (p.Gly117Ser) rs773332016 0.00004
NM_001174147.2(LMX1B):c.375C>T (p.Thr125=) rs921576454 0.00004
NM_001174147.2(LMX1B):c.463G>A (p.Glu155Lys) rs776839118 0.00004
NM_001203.3(BMPR1B):c.580C>G (p.Leu194Val) rs757843329 0.00004
NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu) rs142696562 0.00004
NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu) rs762320529 0.00004
NM_001235.5(SERPINH1):c.600A>C (p.Leu200=) rs764723506 0.00004
NM_001235.5(SERPINH1):c.839G>A (p.Arg280His) rs370057420 0.00004
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284 0.00004
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234 0.00004
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His) rs370984978 0.00004
NM_001271938.2(MEGF8):c.6752C>T (p.Thr2251Met) rs370225382 0.00004
NM_001271938.2(MEGF8):c.7420C>T (p.Arg2474Cys) rs753671779 0.00004
NM_001271938.2(MEGF8):c.8284G>A (p.Gly2762Arg) rs770472361 0.00004
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser) rs914088074 0.00004
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met) rs376248434 0.00004
NM_001353214.3(DYM):c.-94G>C rs886053848 0.00004
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) rs77902523 0.00004
NM_001353214.3(DYM):c.1977G>A (p.Leu659=) rs201023000 0.00004
NM_001361.5(DHODH):c.*645T>C rs1324665374 0.00004
NM_001361.5(DHODH):c.1020C>T (p.Asp340=) rs199666119 0.00004
NM_001361.5(DHODH):c.104G>A (p.Arg35His) rs199675109 0.00004
NM_001361.5(DHODH):c.517+8G>A rs758925798 0.00004
NM_001374353.1(GLI2):c.118G>A (p.Ala40Thr) rs776675838 0.00004
NM_001374353.1(GLI2):c.1317+6C>G rs200971419 0.00004
NM_001374353.1(GLI2):c.2006C>T (p.Thr669Met) rs758298657 0.00004
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812 0.00004
NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu) rs374562179 0.00004
NM_001374353.1(GLI2):c.4510C>G (p.His1504Asp) rs199843410 0.00004
NM_001374353.1(GLI2):c.4592G>A (p.Arg1531Gln) rs371304728 0.00004
NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser) rs144406619 0.00004
NM_001374353.1(GLI2):c.8C>T (p.Thr3Met) rs770918439 0.00004
NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn) rs749580522 0.00004
NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val) rs577186728 0.00004
NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys) rs754692429 0.00004
NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn) rs183882265 0.00004
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu) rs771531342 0.00004
NM_001379081.2(FREM1):c.6286A>G (p.Arg2096Gly) rs377200008 0.00004
NM_001384732.1(CPLANE1):c.2544G>C (p.Gln848His) rs199749415 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala) rs763642816 0.00004
NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr) rs149685637 0.00004
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys) rs775743007 0.00004
NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile) rs1424442518 0.00004
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val) rs369286097 0.00004
NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile) rs369361493 0.00004
NM_001384732.1(CPLANE1):c.8747C>G (p.Ser2916Cys) rs1454812528 0.00004
NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg) rs767695592 0.00004
NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys) rs143453963 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001440.4(EXTL3):c.22C>T (p.Arg8Trp) rs780815544 0.00004
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_001457.4(FLNB):c.6164G>A (p.Gly2055Asp) rs375752014 0.00004
NM_001457.4(FLNB):c.906+3A>G rs750429255 0.00004
NM_001793.6(CDH3):c.-11T>C rs370893872 0.00004
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457 0.00004
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=) rs368241091 0.00004
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala) rs367858076 0.00004
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn) rs377354522 0.00004
NM_001793.6(CDH3):c.654C>T (p.Asp218=) rs763136509 0.00004
NM_001793.6(CDH3):c.867+6T>C rs753122508 0.00004
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001852.4(COL9A2):c.*369C>T rs773649280 0.00004
NM_001852.4(COL9A2):c.142G>C (p.Gly48Arg) rs887364532 0.00004
NM_001853.4(COL9A3):c.1450G>A (p.Gly484Ser) rs767106237 0.00004
NM_001853.4(COL9A3):c.1547C>T (p.Pro516Leu) rs201337557 0.00004
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu) rs768298010 0.00004
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594 0.00004
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His) rs752749747 0.00004
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu) rs534777436 0.00004
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_002010.3(FGF9):c.*519C>T rs947805508 0.00004
NM_002010.3(FGF9):c.*586A>T rs1366387106 0.00004
NM_002335.4(LRP5):c.*8C>T rs758348649 0.00004
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) rs199686378 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met) rs575865236 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.249C>T (p.Ser83=) rs375802434 0.00004
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile) rs974320602 0.00004
NM_002335.4(LRP5):c.2518G>A (p.Val840Met) rs757262154 0.00004
NM_002335.4(LRP5):c.284C>T (p.Thr95Met) rs777743208 0.00004
NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys) rs201285828 0.00004
NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys) rs767690779 0.00004
NM_002335.4(LRP5):c.3917C>T (p.Ala1306Val) rs772148405 0.00004
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu) rs369637767 0.00004
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His) rs765378705 0.00004
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu) rs528693139 0.00004
NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu) rs778004788 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002381.5(MATN3):c.*152A>T rs1188181385 0.00004
NM_002381.5(MATN3):c.*211A>C rs745939353 0.00004
NM_002427.4(MMP13):c.*1171C>A rs1184489201 0.00004
NM_002427.4(MMP13):c.997C>T (p.Arg333Cys) rs782152104 0.00004
NM_002449.5(MSX2):c.*102C>T rs886060426 0.00004
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile) rs766118708 0.00004
NM_002615.7(SERPINF1):c.*87T>C rs886052650 0.00004
NM_002615.7(SERPINF1):c.99C>T (p.Pro33=) rs150314171 0.00004
NM_002734.5(PRKAR1A):c.*1085G>A rs994798970 0.00004
NM_002734.5(PRKAR1A):c.*2940G>A rs2086029597 0.00004
NM_002734.5(PRKAR1A):c.549+20A>G rs981055703 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys) rs370217718 0.00004
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu) rs781193859 0.00004
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys) rs143354709 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003118.4(SPARC):c.751G>A (p.Glu251Lys) rs752377098 0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003722.5(TP63):c.*1702G>A rs886058232 0.00004
NM_003722.5(TP63):c.*2197C>A rs886058237 0.00004
NM_003995.4(NPR2):c.1088G>A (p.Arg363Gln) rs554019454 0.00004
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu) rs202053091 0.00004
NM_003995.4(NPR2):c.2321C>T (p.Ala774Val) rs369154896 0.00004
NM_003995.4(NPR2):c.2460A>C (p.Thr820=) rs754928680 0.00004
NM_003995.4(NPR2):c.2987C>T (p.Ala996Val) rs143187530 0.00004
NM_003995.4(NPR2):c.788G>A (p.Arg263His) rs139036657 0.00004
NM_003995.4(NPR2):c.935G>A (p.Arg312His) rs774537988 0.00004
NM_004239.4(TRIP11):c.*297A>G rs1266688652 0.00004
NM_004239.4(TRIP11):c.-128C>T rs886050910 0.00004
NM_004239.4(TRIP11):c.1146A>G (p.Ala382=) rs377371591 0.00004
NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser) rs201139951 0.00004
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376 0.00004
NM_004239.4(TRIP11):c.280A>G (p.Thr94Ala) rs571262882 0.00004
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) rs758437737 0.00004
NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala) rs766521899 0.00004
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu) rs769666779 0.00004
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) rs371786500 0.00004
NM_004239.4(TRIP11):c.5078C>T (p.Ala1693Val) rs765791979 0.00004
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) rs536393273 0.00004
NM_004252.5(NHERF1):c.469A>C (p.Met157Leu) rs967768641 0.00004
NM_004260.4(RECQL4):c.1030C>T (p.Arg344Trp) rs768850000 0.00004
NM_004260.4(RECQL4):c.1031G>A (p.Arg344Gln) rs745874353 0.00004
NM_004260.4(RECQL4):c.1060G>A (p.Val354Ile) rs551940973 0.00004
NM_004260.4(RECQL4):c.1109G>A (p.Arg370His) rs377494266 0.00004
NM_004260.4(RECQL4):c.1286G>A (p.Gly429Glu) rs761033231 0.00004
NM_004260.4(RECQL4):c.1288C>T (p.Pro430Ser) rs773561522 0.00004
NM_004260.4(RECQL4):c.145A>C (p.Lys49Gln) rs1046890336 0.00004
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.16G>A (p.Asp6Asn) rs1009265867 0.00004
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser) rs764839023 0.00004
NM_004260.4(RECQL4):c.1942A>G (p.Thr648Ala) rs1395849719 0.00004
NM_004260.4(RECQL4):c.2058+5G>A rs1041802349 0.00004
NM_004260.4(RECQL4):c.2107A>G (p.Ile703Val) rs770227800 0.00004
NM_004260.4(RECQL4):c.2125C>T (p.Arg709Trp) rs199562131 0.00004
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His) rs781121286 0.00004
NM_004260.4(RECQL4):c.2264G>A (p.Arg755Gln) rs747445357 0.00004
NM_004260.4(RECQL4):c.2281A>G (p.Met761Val) rs941552175 0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) rs377173936 0.00004
NM_004260.4(RECQL4):c.2338C>T (p.Arg780Trp) rs372741479 0.00004
NM_004260.4(RECQL4):c.2525T>C (p.Val842Ala) rs749829542 0.00004
NM_004260.4(RECQL4):c.2653C>T (p.Leu885Phe) rs367559549 0.00004
NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr) rs186739072 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro) rs774274636 0.00004
NM_004260.4(RECQL4):c.2816C>T (p.Ala939Val) rs561220929 0.00004
NM_004260.4(RECQL4):c.2836C>T (p.Arg946Cys) rs763161407 0.00004
NM_004260.4(RECQL4):c.2894C>T (p.Pro965Leu) rs766038992 0.00004
NM_004260.4(RECQL4):c.3218C>T (p.Thr1073Ile) rs775225569 0.00004
NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu) rs745453660 0.00004
NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His) rs765087683 0.00004
NM_004260.4(RECQL4):c.3418C>T (p.Arg1140Cys) rs375432640 0.00004
NM_004260.4(RECQL4):c.3429C>G (p.Ile1143Met) rs529113837 0.00004
NM_004260.4(RECQL4):c.347C>T (p.Thr116Ile) rs565419066 0.00004
NM_004260.4(RECQL4):c.354G>A (p.Gln118=) rs544163984 0.00004
NM_004260.4(RECQL4):c.431G>A (p.Gly144Asp) rs758010588 0.00004
NM_004260.4(RECQL4):c.544C>T (p.Arg182Trp) rs750986351 0.00004
NM_004260.4(RECQL4):c.551G>A (p.Gly184Asp) rs369118443 0.00004
NM_004260.4(RECQL4):c.709C>G (p.Pro237Ala) rs370391716 0.00004
NM_004260.4(RECQL4):c.732A>C (p.Glu244Asp) rs750451940 0.00004
NM_004260.4(RECQL4):c.784C>T (p.Arg262Trp) rs781314533 0.00004
NM_004273.5(CHST3):c.*2728C>T rs1282105404 0.00004
NM_004273.5(CHST3):c.*2895G>A rs1000522642 0.00004
NM_004273.5(CHST3):c.*3811C>T rs989263395 0.00004
NM_004273.5(CHST3):c.*3905C>T rs886047181 0.00004
NM_004273.5(CHST3):c.*4156A>T rs774773819 0.00004
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00004
NM_004273.5(CHST3):c.540C>T (p.Asn180=) rs748812857 0.00004
NM_004282.4(BAG2):c.*3930G>T rs571856902 0.00004
NM_004282.4(BAG2):c.*4204T>C rs191147024 0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile) rs759041100 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.69G>A (p.Ser23=) rs766095612 0.00004
NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln) rs1304316655 0.00004
NM_004629.2(FANCG):c.1521G>A (p.Ala507=) rs373411028 0.00004
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln) rs372854981 0.00004
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys) rs546023787 0.00004
NM_004629.2(FANCG):c.422G>A (p.Arg141His) rs775719850 0.00004
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg) rs886063897 0.00004
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) rs765722724 0.00004
NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr) rs947040918 0.00004
NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val) rs778904290 0.00004
NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr) rs1276515547 0.00004
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00004
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser) rs139197943 0.00004
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu) rs775278986 0.00004
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=) rs775414253 0.00004
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn) rs779096061 0.00004
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His) rs758565772 0.00004
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00004
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr) rs374243778 0.00004
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys) rs373570729 0.00004
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu) rs148904556 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_005431.2(XRCC2):c.271C>T (p.Arg91Trp) rs730882043 0.00004
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.4(SMC3):c.507C>T (p.Asp169=) rs370909218 0.00004
NM_005529.7(HSPG2):c.1078+11G>A rs373529899 0.00004
NM_005529.7(HSPG2):c.12007C>T (p.Arg4003Trp) rs529517544 0.00004
NM_005529.7(HSPG2):c.12082C>T (p.Arg4028Trp) rs759213540 0.00004
NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=) rs568526447 0.00004
NM_005529.7(HSPG2):c.1399C>T (p.Arg467Cys) rs146861173 0.00004
NM_005529.7(HSPG2):c.2360C>T (p.Thr787Met) rs758631172 0.00004
NM_005529.7(HSPG2):c.245-11C>T rs377063208 0.00004
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln) rs369313904 0.00004
NM_005529.7(HSPG2):c.3003+14G>A rs369278427 0.00004
NM_005529.7(HSPG2):c.3545C>T (p.Thr1182Met) rs748529459 0.00004
NM_005529.7(HSPG2):c.3556C>T (p.Arg1186Trp) rs113743582 0.00004
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln) rs375214661 0.00004
NM_005529.7(HSPG2):c.4409G>A (p.Arg1470Gln) rs41310382 0.00004
NM_005529.7(HSPG2):c.4576G>A (p.Glu1526Lys) rs767254154 0.00004
NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln) rs377462320 0.00004
NM_005529.7(HSPG2):c.5350C>T (p.Arg1784Cys) rs150937055 0.00004
NM_005529.7(HSPG2):c.599C>T (p.Thr200Met) rs201288550 0.00004
NM_005529.7(HSPG2):c.6110G>A (p.Arg2037Gln) rs760003870 0.00004
NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn) rs780545355 0.00004
NM_005529.7(HSPG2):c.6842G>A (p.Arg2281His) rs545161793 0.00004
NM_005529.7(HSPG2):c.7346C>T (p.Ala2449Val) rs375141478 0.00004
NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys) rs181945618 0.00004
NM_005529.7(HSPG2):c.7775C>T (p.Pro2592Leu) rs140341550 0.00004
NM_005529.7(HSPG2):c.8163C>T (p.Ser2721=) rs768337273 0.00004
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr) rs201508804 0.00004
NM_005529.7(HSPG2):c.8287C>T (p.Arg2763Cys) rs775757447 0.00004
NM_005529.7(HSPG2):c.8431G>A (p.Glu2811Lys) rs61747612 0.00004
NM_005529.7(HSPG2):c.8711C>T (p.Ala2904Val) rs372570791 0.00004
NM_005529.7(HSPG2):c.916G>A (p.Gly306Arg) rs149899316 0.00004
NM_005529.7(HSPG2):c.9176G>A (p.Arg3059Gln) rs760159387 0.00004
NM_005529.7(HSPG2):c.937G>A (p.Gly313Ser) rs536020535 0.00004
NM_005529.7(HSPG2):c.9563A>C (p.Gln3188Pro) rs758584149 0.00004
NM_006031.6(PCNT):c.*110G>A rs773970145 0.00004
NM_006031.6(PCNT):c.-33A>G rs755311284 0.00004
NM_006031.6(PCNT):c.1457-5T>A rs769237607 0.00004
NM_006031.6(PCNT):c.2376A>C (p.Arg792=) rs759858754 0.00004
NM_006031.6(PCNT):c.2724C>G (p.His908Gln) rs746750267 0.00004
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=) rs182694054 0.00004
NM_006031.6(PCNT):c.4791+8G>A rs769352853 0.00004
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp) rs746468689 0.00004
NM_006031.6(PCNT):c.5698C>T (p.Arg1900Cys) rs529740865 0.00004
NM_006031.6(PCNT):c.5849G>A (p.Arg1950Gln) rs753398573 0.00004
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=) rs181294356 0.00004
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952 0.00004
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=) rs777489939 0.00004
NM_006031.6(PCNT):c.6145G>A (p.Gly2049Ser) rs10222114 0.00004
NM_006031.6(PCNT):c.6644C>T (p.Pro2215Leu) rs750958898 0.00004
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=) rs755956494 0.00004
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val) rs368569999 0.00004
NM_006031.6(PCNT):c.7871C>T (p.Ser2624Phe) rs199981467 0.00004
NM_006031.6(PCNT):c.7939G>A (p.Glu2647Lys) rs886267351 0.00004
NM_006031.6(PCNT):c.8268G>T (p.Glu2756Asp) rs764010211 0.00004
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262 0.00004
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg) rs372024492 0.00004
NM_006129.5(BMP1):c.*325C>G rs886062823 0.00004
NM_006129.5(BMP1):c.1095G>A (p.Thr365=) rs370391413 0.00004
NM_006129.5(BMP1):c.1232G>A (p.Arg411His) rs184592914 0.00004
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) rs149426277 0.00004
NM_006129.5(BMP1):c.2321C>T (p.Thr774Met) rs750695022 0.00004
NM_006182.4(DDR2):c.-318C>T rs1269391862 0.00004
NM_006182.4(DDR2):c.716T>C (p.Leu239Pro) rs578015216 0.00004
NM_006265.3(RAD21):c.640C>G (p.Gln214Glu) rs767342502 0.00004
NM_006265.3(RAD21):c.892C>G (p.Pro298Ala) rs148308569 0.00004
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn) rs201610023 0.00004
NM_006306.4(SMC1A):c.*2663C>T rs1057515961 0.00004
NM_006306.4(SMC1A):c.*4156A>G rs999754790 0.00004
NM_006306.4(SMC1A):c.*703G>T rs189126241 0.00004
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val) rs1171109209 0.00004
NM_006371.5(CRTAP):c.*2968G>A rs1292526404 0.00004
NM_006371.5(CRTAP):c.*5313T>G rs886058379 0.00004
NM_006371.5(CRTAP):c.111A>G (p.Pro37=) rs772038741 0.00004
NM_006371.5(CRTAP):c.1129G>A (p.Glu377Lys) rs546298253 0.00004
NM_006371.5(CRTAP):c.168C>G (p.Ser56Arg) rs146112611 0.00004
NM_006371.5(CRTAP):c.611A>C (p.Lys204Thr) rs145623565 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_006371.5(CRTAP):c.760A>G (p.Lys254Glu) rs756183963 0.00004
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr) rs187153114 0.00004
NM_012330.4(KAT6B):c.2629+9A>G rs745942441 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_012330.4(KAT6B):c.5879C>T (p.Thr1960Met) rs147168060 0.00004
NM_012463.4(ATP6V0A2):c.*1828C>G rs886049068 0.00004
NM_012463.4(ATP6V0A2):c.*709C>T rs547048918 0.00004
NM_012463.4(ATP6V0A2):c.-148C>T rs886049059 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_014140.4(SMARCAL1):c.*13G>T rs760333596 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472 0.00004
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met) rs199876834 0.00004
NM_014140.4(SMARCAL1):c.2009A>G (p.Asn670Ser) rs752621052 0.00004
NM_014140.4(SMARCAL1):c.2512G>A (p.Ala838Thr) rs369844668 0.00004
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser) rs376295895 0.00004
NM_014140.4(SMARCAL1):c.599C>T (p.Ser200Leu) rs777896137 0.00004
NM_014140.4(SMARCAL1):c.614C>T (p.Ser205Phe) rs768737511 0.00004
NM_014762.4(DHCR24):c.*1267G>A rs1175475634 0.00004
NM_014762.4(DHCR24):c.*278G>A rs772933580 0.00004
NM_014762.4(DHCR24):c.*676C>G rs762917924 0.00004
NM_014804.3(KIAA0753):c.601C>T (p.His201Tyr) rs755693348 0.00004
NM_015139.3(SLC35D1):c.208C>T (p.Pro70Ser) rs544752539 0.00004
NM_015139.3(SLC35D1):c.712A>G (p.Thr238Ala) rs200496218 0.00004
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser) rs755942179 0.00004
NM_015631.6(TCTN3):c.1590+4A>T rs756071891 0.00004
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr) rs143758863 0.00004
NM_015631.6(TCTN3):c.627+6C>T rs190843846 0.00004
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser) rs764053825 0.00004
NM_016277.5(RAB23):c.*618A>G rs886061653 0.00004
NM_016277.5(RAB23):c.*81G>T rs1304531152 0.00004
NM_016277.5(RAB23):c.481+10C>T rs546078370 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_016580.4(PCDH12):c.1060G>A (p.Val354Ile) rs763363704 0.00004
NM_017617.5(NOTCH1):c.1904-3C>A rs748118679 0.00004
NM_017617.5(NOTCH1):c.2207+6C>T rs545872006 0.00004
NM_017617.5(NOTCH1):c.2353G>A (p.Gly785Ser) rs764191723 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr) rs1217015143 0.00004
NM_018062.4(FANCL):c.1050G>T (p.Gln350His) rs760542163 0.00004
NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn) rs145260146 0.00004
NM_018062.4(FANCL):c.208G>A (p.Val70Ile) rs758754024 0.00004
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile) rs371154063 0.00004
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp) rs201084086 0.00004
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn) rs199564543 0.00004
NM_018475.5(TMEM165):c.199C>T (p.Arg67Trp) rs768223101 0.00004
NM_018475.5(TMEM165):c.653C>T (p.Thr218Met) rs147314282 0.00004
NM_020297.4(ABCC9):c.1455+4A>C rs376587222 0.00004
NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn) rs757681761 0.00004
NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile) rs376754153 0.00004
NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys) rs749668601 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys) rs369587958 0.00004
NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn) rs757430438 0.00004
NM_020436.5(SALL4):c.202C>T (p.Arg68Trp) rs202087308 0.00004
NM_020436.5(SALL4):c.203G>A (p.Arg68Gln) rs773046204 0.00004
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) rs373111608 0.00004
NM_020754.4(ARHGAP31):c.3596C>T (p.Ala1199Val) rs534166705 0.00004
NM_020779.4(WDR35):c.*1219G>A rs1003005484 0.00004
NM_020779.4(WDR35):c.*2989C>T rs886055392 0.00004
NM_020779.4(WDR35):c.*3269G>A rs886055391 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020779.4(WDR35):c.1529G>A (p.Arg510His) rs763031783 0.00004
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) rs529313875 0.00004
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) rs780159239 0.00004
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val) rs370956261 0.00004
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly) rs1281384371 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser) rs774898515 0.00004
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly) rs370873468 0.00004
NM_020779.4(WDR35):c.742G>A (p.Val248Ile) rs372968757 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) rs573430534 0.00004
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) rs752364451 0.00004
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr) rs201596252 0.00004
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser) rs146291619 0.00004
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp) rs112784867 0.00004
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg) rs756249141 0.00004
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) rs751262177 0.00004
NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys) rs760204880 0.00004
NM_020937.4(FANCM):c.232T>C (p.Ser78Pro) rs995677452 0.00004
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu) rs774142261 0.00004
NM_020937.4(FANCM):c.3104C>A (p.Thr1035Asn) rs1411559650 0.00004
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe) rs147299864 0.00004
NM_020937.4(FANCM):c.3433G>A (p.Asp1145Asn) rs753249049 0.00004
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe) rs952413457 0.00004
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu) rs753876341 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_020937.4(FANCM):c.4222+5G>A rs201544504 0.00004
NM_020937.4(FANCM):c.4406A>G (p.Asp1469Gly) rs368457419 0.00004
NM_020937.4(FANCM):c.4820G>A (p.Cys1607Tyr) rs769869730 0.00004
NM_020937.4(FANCM):c.486A>C (p.Gln162His) rs149517732 0.00004
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858 0.00004
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr) rs767619000 0.00004
NM_020937.4(FANCM):c.5545C>A (p.Pro1849Thr) rs1359477676 0.00004
NM_020937.4(FANCM):c.685G>T (p.Val229Leu) rs572322789 0.00004
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu) rs781381334 0.00004
NM_021625.5(TRPV4):c.*303G>A rs909596433 0.00004
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp) rs567313440 0.00004
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg) rs996436646 0.00004
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys) rs747078723 0.00004
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys) rs754914337 0.00004
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) rs201528578 0.00004
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser) rs372935921 0.00004
NM_021939.4(FKBP10):c.1366G>A (p.Val456Met) rs782275233 0.00004
NM_021939.4(FKBP10):c.1402C>T (p.Arg468Trp) rs542334549 0.00004
NM_021939.4(FKBP10):c.917+5G>A rs782117189 0.00004
NM_021939.4(FKBP10):c.942T>C (p.Asn314=) rs376553350 0.00004
NM_022039.4(FBXW4):c.*606A>C rs886046641 0.00004
NM_022124.6(CDH23):c.5989G>A (p.Val1997Met) rs755121910 0.00004
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) rs573652692 0.00004
NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile) rs372741635 0.00004
NM_022166.4(XYLT1):c.534G>T (p.Gln178His) rs142578304 0.00004
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr) rs183356442 0.00004
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser) rs199705453 0.00004
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu) rs35207787 0.00004
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala) rs747135877 0.00004
NM_022168.4(IFIH1):c.1641+4T>C rs931264780 0.00004
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn) rs749942019 0.00004
NM_022168.4(IFIH1):c.2183G>A (p.Arg728Gln) rs1266522773 0.00004
NM_022168.4(IFIH1):c.2417G>A (p.Arg806His) rs562743627 0.00004
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp) rs200810568 0.00004
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter) rs750804689 0.00004
NM_022168.4(IFIH1):c.2622G>C (p.Leu874Phe) rs760588876 0.00004
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn) rs751417093 0.00004
NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly) rs148623633 0.00004
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala) rs375449284 0.00004
NM_022168.4(IFIH1):c.467A>C (p.Glu156Ala) rs144853750 0.00004
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe) rs774782975 0.00004
NM_022168.4(IFIH1):c.769+4C>T rs748285029 0.00004
NM_022356.4(P3H1):c.1072C>A (p.Pro358Thr) rs150509550 0.00004
NM_022356.4(P3H1):c.113T>C (p.Leu38Pro) rs528960354 0.00004
NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys) rs141759655 0.00004
NM_022356.4(P3H1):c.1472A>G (p.Asn491Ser) rs754714794 0.00004
NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln) rs758596191 0.00004
NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr) rs200935208 0.00004
NM_022356.4(P3H1):c.1945G>A (p.Val649Met) rs775492271 0.00004
NM_022356.4(P3H1):c.2006G>A (p.Arg669His) rs578161008 0.00004
NM_022356.4(P3H1):c.2032C>A (p.Leu678Met) rs202209556 0.00004
NM_022356.4(P3H1):c.811C>T (p.His271Tyr) rs374314894 0.00004
NM_022356.4(P3H1):c.822G>C (p.Gln274His) rs372301077 0.00004
NM_022356.4(P3H1):c.935A>G (p.Tyr312Cys) rs374135158 0.00004
NM_022458.4(LMBR1):c.*2020T>C rs567467797 0.00004
NM_022458.4(LMBR1):c.*2262G>A rs911647400 0.00004
NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser) rs568570543 0.00004
NM_022725.4(FANCF):c.*1119T>A rs558392453 0.00004
NM_022725.4(FANCF):c.*412T>A rs1310827545 0.00004
NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe) rs368170054 0.00004
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser) rs377309460 0.00004
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly) rs540547787 0.00004
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys) rs145666363 0.00004
NM_023110.2(FGFR1):c.-747C>G rs917928821 0.00004
NM_023110.3(FGFR1):c.*252G>A rs781117513 0.00004
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met) rs752601407 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.742G>A (p.Val248Met) rs186746130 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 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.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) rs587782579 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.829G>A (p.Asp277Asn) rs778309339 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_031296.2(RAB33B):c.-160G>A rs774087744 0.00004
NM_031296.3(RAB33B):c.*1322C>G rs1007896122 0.00004
NM_031296.3(RAB33B):c.*1949A>C rs1163902963 0.00004
NM_031296.3(RAB33B):c.249+10T>C rs747305009 0.00004
NM_032043.3(BRIP1):c.*524A>G rs371689236 0.00004
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791 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.1220G>A (p.Ser407Asn) rs759835916 0.00004
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 0.00004
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu) rs748616469 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.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474 0.00004
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558 0.00004
NM_032043.3(BRIP1):c.380A>G (p.Asp127Gly) rs1170174893 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_032444.4(SLX4):c.1163+3A>G rs765509115 0.00004
NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln) rs779596439 0.00004
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val) rs551823420 0.00004
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn) rs752899329 0.00004
NM_032444.4(SLX4):c.1740C>T (p.Ser580=) rs200354014 0.00004
NM_032444.4(SLX4):c.1846G>A (p.Val616Met) rs199863797 0.00004
NM_032444.4(SLX4):c.1873G>A (p.Ala625Thr) rs200755122 0.00004
NM_032444.4(SLX4):c.1888G>A (p.Gly630Ser) rs376620029 0.00004
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg) rs767473953 0.00004
NM_032444.4(SLX4):c.2623G>A (p.Glu875Lys) rs372976873 0.00004
NM_032444.4(SLX4):c.2864A>G (p.His955Arg) rs143694260 0.00004
NM_032444.4(SLX4):c.2991G>A (p.Pro997=) rs770736311 0.00004
NM_032444.4(SLX4):c.3009G>C (p.Glu1003Asp) rs142047326 0.00004
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg) rs142079276 0.00004
NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser) rs373231418 0.00004
NM_032444.4(SLX4):c.3310C>T (p.Arg1104Trp) rs752187463 0.00004
NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys) rs974413437 0.00004
NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala) rs752941190 0.00004
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu) rs376133540 0.00004
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn) rs372991604 0.00004
NM_032444.4(SLX4):c.3781C>T (p.Pro1261Ser) rs141860134 0.00004
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met) rs373107728 0.00004
NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu) rs375172024 0.00004
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His) rs757202686 0.00004
NM_032444.4(SLX4):c.4097G>A (p.Arg1366His) rs375108717 0.00004
NM_032444.4(SLX4):c.4109G>A (p.Ser1370Asn) rs747599109 0.00004
NM_032444.4(SLX4):c.4133C>T (p.Pro1378Leu) rs371580654 0.00004
NM_032444.4(SLX4):c.4157A>G (p.Gln1386Arg) rs774060802 0.00004
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val) rs953994627 0.00004
NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr) rs1056055996 0.00004
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu) rs776332160 0.00004
NM_032444.4(SLX4):c.4390A>G (p.Ser1464Gly) rs750635051 0.00004
NM_032444.4(SLX4):c.4394G>A (p.Arg1465His) rs757128699 0.00004
NM_032444.4(SLX4):c.4429C>T (p.Pro1477Ser) rs912385590 0.00004
NM_032444.4(SLX4):c.4740-6C>T rs377066518 0.00004
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys) rs181782315 0.00004
NM_032444.4(SLX4):c.4864C>G (p.Gln1622Glu) rs1009469961 0.00004
NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu) rs751763192 0.00004
NM_032444.4(SLX4):c.489T>G (p.Gly163=) rs201211891 0.00004
NM_032444.4(SLX4):c.4964G>A (p.Arg1655Lys) rs149726415 0.00004
NM_032444.4(SLX4):c.499G>A (p.Glu167Lys) rs151018140 0.00004
NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp) rs569861974 0.00004
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val) rs752633436 0.00004
NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu) rs1031274414 0.00004
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln) rs780261532 0.00004
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His) rs560381786 0.00004
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn) rs760435859 0.00004
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu) rs199929086 0.00004
NM_032444.4(SLX4):c.800C>T (p.Ala267Val) rs752160984 0.00004
NM_032444.4(SLX4):c.950+3G>T rs748822509 0.00004
NM_032888.4(COL27A1):c.241C>T (p.Arg81Trp) rs143398547 0.00004
NM_052985.3(IFT122):c.-145T>A rs923805618 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val) rs778888913 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu) rs557159295 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 0.00004
NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp) rs28910276 0.00004
NM_058216.3(RAD51C):c.52C>T (p.Pro18Ser) rs547142453 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.883G>A (p.Ala295Thr) rs746571208 0.00004
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln) rs367846829 0.00004
NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln) rs1199531500 0.00004
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) rs746174922 0.00004
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys) rs1267101770 0.00004
NM_080680.3(COL11A2):c.*536C>T rs886061312 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln) rs374898022 0.00004
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=) rs781462105 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111 0.00004
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987 0.00004
NM_080680.3(COL11A2):c.622C>T (p.Leu208=) rs200272494 0.00004
NM_133433.4(NIPBL):c.-410C>T rs886060554 0.00004
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768 0.00004
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) rs371073215 0.00004
NM_133433.4(NIPBL):c.2774A>G (p.Lys925Arg) rs1198125549 0.00004
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala) rs772009624 0.00004
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys) rs774109272 0.00004
NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser) rs369282785 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser) rs368314615 0.00004
NM_152281.3(GORAB):c.223G>A (p.Val75Ile) rs751708902 0.00004
NM_152281.3(GORAB):c.559C>T (p.Arg187Trp) rs763362522 0.00004
NM_152281.3(GORAB):c.868G>A (p.Glu290Lys) rs541180988 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_181486.4(TBX5):c.*702T>C rs759107305 0.00004
NM_181486.4(TBX5):c.*875A>C rs886048987 0.00004
NM_182943.3(PLOD2):c.1418G>A (p.Arg473Gln) rs533478450 0.00004
NM_182943.3(PLOD2):c.335A>G (p.Glu112Gly) rs759343908 0.00004
NM_182943.3(PLOD2):c.471G>A (p.Val157=) rs761346369 0.00004
NM_198239.2(CCN6):c.757G>A (p.Asp253Asn) rs140750750 0.00004
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp) rs142786336 0.00004
NM_198525.3(KIF7):c.50G>A (p.Arg17Gln) rs949983017 0.00004
NM_203486.3(DLL3):c.1302C>T (p.Ala434=) rs750457185 0.00004
NM_203486.3(DLL3):c.915C>T (p.Tyr305=) rs372702131 0.00004
NM_203486.3(DLL3):c.969C>T (p.Asn323=) rs139638161 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_213599.3(ANO5):c.1165T>C (p.Phe389Leu) rs886043042 0.00004
NM_213599.3(ANO5):c.1201T>C (p.Trp401Arg) rs149656183 0.00004
NM_213599.3(ANO5):c.280G>A (p.Ala94Thr) rs367731017 0.00004
NM_213599.3(ANO5):c.443G>T (p.Gly148Val) rs912120379 0.00004
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp) rs149040903 0.00004
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln) rs143078257 0.00004
NM_213599.3(ANO5):c.653A>G (p.Tyr218Cys) rs548449293 0.00004
NM_213599.3(ANO5):c.803A>G (p.Asn268Ser) rs769560800 0.00004
NR_003051.4(RMRP):n.10C>T rs893651141 0.00004
NR_003051.4(RMRP):n.172G>A rs995230090 0.00004
NR_003051.4(RMRP):n.47dup rs1449922755 0.00004
NR_003051.4(RMRP):n.81G>A rs756128568 0.00004
NM_000059.4(BRCA2):c.*172G>A rs574944914 0.00003
NM_000059.4(BRCA2):c.*345A>G rs886050113 0.00003
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396 0.00003
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser) rs80358568 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 0.00003
NM_000088.4(COL1A1):c.*682C>T rs77720683 0.00003
NM_000088.4(COL1A1):c.*733G>A rs886053148 0.00003
NM_000088.4(COL1A1):c.*795C>T rs886053147 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) rs780422688 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.2945C>T (p.Pro982Leu) rs940298764 0.00003
NM_000088.4(COL1A1):c.298+6G>T rs753705753 0.00003
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 0.00003
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys) rs373777457 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys) rs1341595487 0.00003
NM_000089.4(COL1A2):c.*584A>T rs1469558350 0.00003
NM_000089.4(COL1A2):c.*601A>G rs1031022615 0.00003
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile) rs550867796 0.00003
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile) rs770497661 0.00003
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln) rs200231086 0.00003
NM_000089.4(COL1A2):c.1556G>A (p.Arg519Gln) rs201768205 0.00003
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr) rs41317153 0.00003
NM_000089.4(COL1A2):c.1804C>T (p.Pro602Ser) rs906800567 0.00003
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517 0.00003
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp) rs759251034 0.00003
NM_000089.4(COL1A2):c.2489G>A (p.Arg830Gln) rs768513176 0.00003
NM_000089.4(COL1A2):c.2644C>T (p.Arg882Cys) rs1204085246 0.00003
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser) rs779303344 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln) rs751898427 0.00003
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000095.3(COMP):c.1200C>T (p.Gly400=) rs201063220 0.00003
NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) rs759687021 0.00003
NM_000095.3(COMP):c.566A>G (p.His189Arg) rs199792797 0.00003
NM_000095.3(COMP):c.643G>C (p.Gly215Arg) rs768437153 0.00003
NM_000095.3(COMP):c.867+11G>A rs776412620 0.00003
NM_000112.4(SLC26A2):c.*216T>G rs886060227 0.00003
NM_000112.4(SLC26A2):c.*2603T>C rs749507700 0.00003
NM_000112.4(SLC26A2):c.*2772C>T rs886060242 0.00003
NM_000112.4(SLC26A2):c.*3918C>T rs192457706 0.00003
NM_000112.4(SLC26A2):c.*4782A>G rs886060252 0.00003
NM_000112.4(SLC26A2):c.*693G>T rs974372860 0.00003
NM_000112.4(SLC26A2):c.-235T>C rs760297706 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.1735A>G (p.Lys579Glu) rs375785597 0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_000112.4(SLC26A2):c.2147T>C (p.Met716Thr) rs760613033 0.00003
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029 0.00003
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504 0.00003
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=) rs1396953137 0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917 0.00003
NM_000112.4(SLC26A2):c.993A>C (p.Ala331=) rs772104667 0.00003
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) rs150290184 0.00003
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) rs748337423 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764 0.00003
NM_000135.4(FANCA):c.1543A>C (p.Lys515Gln) rs1355805026 0.00003
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr) rs752323052 0.00003
NM_000135.4(FANCA):c.1738G>A (p.Val580Met) rs769158149 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885 0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283 0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00003
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg) rs1481598103 0.00003
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) rs777032467 0.00003
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys) rs1354855145 0.00003
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val) rs756082739 0.00003
NM_000135.4(FANCA):c.2851C>A (p.Arg951=) rs755546887 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00003
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu) rs140412064 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His) rs752642945 0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656 0.00003
NM_000135.4(FANCA):c.3349-11C>A rs1190325114 0.00003
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser) rs370731587 0.00003
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109 0.00003
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu) rs748263867 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.361G>A (p.Val121Met) rs780035612 0.00003
NM_000135.4(FANCA):c.3627-8T>G rs77877981 0.00003
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229 0.00003
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543 0.00003
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser) rs374945563 0.00003
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr) rs925649874 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993 0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000136.3(FANCC):c.*1468C>T rs780382671 0.00003
NM_000136.3(FANCC):c.*2052G>C rs539833295 0.00003
NM_000136.3(FANCC):c.*2246G>T rs1367873898 0.00003
NM_000136.3(FANCC):c.*2564C>T rs945363629 0.00003
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) rs863224608 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys) rs761845692 0.00003
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573 0.00003
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273 0.00003
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729 0.00003
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) rs375921240 0.00003
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser) rs1064793405 0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) rs1390412870 0.00003
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) rs755283850 0.00003
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln) rs889715188 0.00003
NM_000136.3(FANCC):c.830A>T (p.Lys277Ile) rs1349398241 0.00003
NM_000136.3(FANCC):c.902C>A (p.Ala301Glu) rs553689536 0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316 0.00003
NM_000141.5(FGFR2):c.*1126T>C rs370106008 0.00003
NM_000141.5(FGFR2):c.*1489C>T rs886046757 0.00003
NM_000141.5(FGFR2):c.*463A>G rs373313930 0.00003
NM_000141.5(FGFR2):c.*730G>C rs549293047 0.00003
NM_000141.5(FGFR2):c.-206C>A rs1238787517 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) rs745848425 0.00003
NM_000316.3(PTH1R):c.-166G>A rs886058583 0.00003
NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys) rs200667470 0.00003
NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp) rs139381461 0.00003
NM_000396.3(CTSK):c.-185C>T rs886045275 0.00003
NM_000396.3(CTSK):c.-91G>A rs587638612 0.00003
NM_000493.4(COL10A1):c.*900G>A rs1025790263 0.00003
NM_000942.4(PPIB):c.-56C>A rs886051325 0.00003
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp) rs762190195 0.00003
NM_001011658.4(TRAPPC2):c.*1442C>T rs771455096 0.00003
NM_001011658.4(TRAPPC2):c.-19-3T>C rs781420575 0.00003
NM_001015880.2(PAPSS2):c.1324C>G (p.Pro442Ala) rs755518410 0.00003
NM_001015880.2(PAPSS2):c.1444A>G (p.Ile482Val) rs760626908 0.00003
NM_001015880.2(PAPSS2):c.1679A>G (p.Tyr560Cys) rs745537723 0.00003
NM_001015880.2(PAPSS2):c.1802T>C (p.Met601Thr) rs552065075 0.00003
NM_001015880.2(PAPSS2):c.65C>T (p.Ala22Val) rs778128101 0.00003
NM_001015880.2(PAPSS2):c.950G>T (p.Gly317Val) rs953188794 0.00003
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His) rs776805534 0.00003
NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr) rs1275915380 0.00003
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu) rs1316961996 0.00003
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg) rs748171507 0.00003
NM_001018115.3(FANCD2):c.1234A>G (p.Ile412Val) rs776482951 0.00003
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu) rs750534583 0.00003
NM_001018115.3(FANCD2):c.1545+9T>C rs769459614 0.00003
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val) rs766098612 0.00003
NM_001018115.3(FANCD2):c.1948-7C>T rs757782326 0.00003
NM_001018115.3(FANCD2):c.2012T>G (p.Val671Gly) rs373337896 0.00003
NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu) rs147532349 0.00003
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) rs765365413 0.00003
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser) rs758718558 0.00003
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile) rs1468736218 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.3047T>A (p.Val1016Asp) rs767860064 0.00003
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu) rs759516610 0.00003
NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly) rs781064333 0.00003
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn) rs151316403 0.00003
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811 0.00003
NM_001018115.3(FANCD2):c.4214A>T (p.Gln1405Leu) rs746871581 0.00003
NM_001018115.3(FANCD2):c.571-3C>T rs191386799 0.00003
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val) rs770985541 0.00003
NM_001018115.3(FANCD2):c.865G>A (p.Val289Ile) rs371273577 0.00003
NM_001024630.4(RUNX2):c.*2520T>C rs1045136729 0.00003
NM_001024630.4(RUNX2):c.*262A>G rs933682511 0.00003
NM_001039958.2(MESP2):c.1063G>A (p.Asp355Asn) rs770301033 0.00003
NM_001040167.2(LFNG):c.557A>G (p.Asp186Gly) rs753021502 0.00003
NM_001040167.2(LFNG):c.635G>A (p.Arg212Gln) rs760610052 0.00003
NM_001104631.2(PDE4D):c.*1649C>T rs530824932 0.00003
NM_001104631.2(PDE4D):c.*3418T>C rs1466070150 0.00003
NM_001104631.2(PDE4D):c.*421A>G rs886060715 0.00003
NM_001104631.2(PDE4D):c.1189-4C>G rs748827625 0.00003
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met) rs1060501897 0.00003
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) rs201002833 0.00003
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) rs200007225 0.00003
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) rs148780626 0.00003
NM_001113378.2(FANCI):c.1699-11C>T rs753750358 0.00003
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) rs779310267 0.00003
NM_001113378.2(FANCI):c.1890+3A>G rs886051510 0.00003
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) rs143105092 0.00003
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly) rs780147810 0.00003
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) rs781175970 0.00003
NM_001113378.2(FANCI):c.2504G>A (p.Ser835Asn) rs778626493 0.00003
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) rs777483611 0.00003
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly) rs545673916 0.00003
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met) rs771106622 0.00003
NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln) rs201553891 0.00003
NM_001113378.2(FANCI):c.2936G>T (p.Ser979Ile) rs769453869 0.00003
NM_001113378.2(FANCI):c.3053G>A (p.Ser1018Asn) rs773696866 0.00003
NM_001113378.2(FANCI):c.3093G>C (p.Leu1031Phe) rs546822799 0.00003
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys) rs138702591 0.00003
NM_001113378.2(FANCI):c.3186+3A>G rs371788349 0.00003
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069 0.00003
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly) rs772968604 0.00003
NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu) rs578060150 0.00003
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=) rs964069381 0.00003
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe) rs202066338 0.00003
NM_001113378.2(FANCI):c.3817-12A>G rs545402956 0.00003
NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val) rs778056909 0.00003
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061 0.00003
NM_001113378.2(FANCI):c.3886A>G (p.Met1296Val) rs765052471 0.00003
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619 0.00003
NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn) rs574154974 0.00003
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150 0.00003
NM_001113525.2(ZNF276):c.*354G>A rs370357192 0.00003
NM_001113525.2(ZNF276):c.1574+24C>G rs17233819 0.00003
NM_001127671.2(LIFR):c.*1643G>A rs1009323722 0.00003
NM_001127671.2(LIFR):c.*212T>C rs1350790157 0.00003
NM_001127671.2(LIFR):c.*2476G>T rs555848744 0.00003
NM_001127671.2(LIFR):c.*2746T>A rs1290128552 0.00003
NM_001127671.2(LIFR):c.*3753G>C rs1432917321 0.00003
NM_001127671.2(LIFR):c.*6226A>G rs1274222770 0.00003
NM_001127671.2(LIFR):c.*6564C>T rs566612340 0.00003
NM_001127671.2(LIFR):c.*972C>T rs1368133920 0.00003
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) rs767618083 0.00003
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) rs570053542 0.00003
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser) rs199505838 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732 0.00003
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys) rs766701277 0.00003
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly) rs377518253 0.00003
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00003
NM_001128225.3(SLC39A13):c.919+4C>T rs368667805 0.00003
NM_001130144.3(LTBP3):c.1620C>T (p.Pro540=) rs200693646 0.00003
NM_001130144.3(LTBP3):c.1831C>T (p.His611Tyr) rs752399244 0.00003
NM_001130144.3(LTBP3):c.3401G>A (p.Arg1134Gln) rs939910538 0.00003
NM_001130144.3(LTBP3):c.3584C>T (p.Ser1195Phe) rs751218306 0.00003
NM_001130144.3(LTBP3):c.3875G>A (p.Arg1292His) rs1282350856 0.00003
NM_001159773.2(CANT1):c.125G>A (p.Arg42His) rs886053526 0.00003
NM_001159773.2(CANT1):c.246G>A (p.Ala82=) rs567995164 0.00003
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904 0.00003
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu) rs774920895 0.00003
NM_001159773.2(CANT1):c.948C>T (p.Gly316=) rs556238561 0.00003
NM_001174147.2(LMX1B):c.*3098A>G rs749654121 0.00003
NM_001174147.2(LMX1B):c.*3805G>A rs886063445 0.00003
NM_001174147.2(LMX1B):c.958G>A (p.Val320Met) rs778847250 0.00003
NM_001235.5(SERPINH1):c.1178G>A (p.Arg393Gln) rs772299825 0.00003
NM_001235.5(SERPINH1):c.486C>G (p.Asn162Lys) rs770842307 0.00003
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala) rs138784081 0.00003
NM_001235.5(SERPINH1):c.573C>A (p.Asp191Glu) rs745340617 0.00003
NM_001235.5(SERPINH1):c.823G>A (p.Val275Met) rs199679249 0.00003
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys) rs554274233 0.00003
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg) rs754432292 0.00003
NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) rs781096678 0.00003
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu) rs768036287 0.00003
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu) rs757227265 0.00003
NM_001271938.2(MEGF8):c.5785C>T (p.Arg1929Trp) rs529688057 0.00003
NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His) rs771233244 0.00003
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His) rs757739507 0.00003
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=) rs773571688 0.00003
NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp) rs186870285 0.00003
NM_001278689.2(EOGT):c.1355G>A (p.Arg452His) rs193201126 0.00003
NM_001353214.3(DYM):c.1251+12T>C rs374105000 0.00003
NM_001353214.3(DYM):c.1995C>T (p.Gly665=) rs370290857 0.00003
NM_001353214.3(DYM):c.21A>T (p.Arg7Ser) rs765630940 0.00003
NM_001353214.3(DYM):c.920C>T (p.Ala307Val) rs200843715 0.00003
NM_001361.5(DHODH):c.492G>T (p.Gln164His) rs768224976 0.00003
NM_001361.5(DHODH):c.869C>T (p.Ala290Val) rs199626701 0.00003
NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala) rs372267862 0.00003
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133 0.00003
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys) rs773976966 0.00003
NM_001374353.1(GLI2):c.2303A>T (p.Asn768Ile) rs768131638 0.00003
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr) rs751028726 0.00003
NM_001374353.1(GLI2):c.677G>A (p.Arg226His) rs766283583 0.00003
NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile) rs748962196 0.00003
NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly) rs200490112 0.00003
NM_001379081.2(FREM1):c.3148G>A (p.Ala1050Thr) rs556974765 0.00003
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile) rs1443893630 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.1964A>C (p.Gln655Pro) rs923514393 0.00003
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581 0.00003
NM_001384732.1(CPLANE1):c.2902C>T (p.Pro968Ser) rs980413221 0.00003
NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn) rs775457117 0.00003
NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr) rs759005825 0.00003
NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe) rs769304117 0.00003
NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His) rs772945484 0.00003
NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu) rs138088605 0.00003
NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val) rs140657139 0.00003
NM_001384732.1(CPLANE1):c.8594G>A (p.Ser2865Asn) rs752341833 0.00003
NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu) rs376064818 0.00003
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_001395413.1(POR):c.821+2dup rs886062440 0.00003
NM_001429.4(EP300):c.2241G>A (p.Pro747=) rs759604286 0.00003
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00003
NM_001457.4(FLNB):c.3724+4G>C rs993620203 0.00003
NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile) rs369949841 0.00003
NM_001457.4(FLNB):c.776C>T (p.Ala259Val) rs376619286 0.00003
NM_001793.6(CDH3):c.1652G>A (p.Arg551His) rs779413254 0.00003
NM_001793.6(CDH3):c.2484C>T (p.Asp828=) rs202210726 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) rs2276459 0.00003
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364 0.00003
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) rs1400762548 0.00003
NM_001844.5(COL2A1):c.708+14C>T rs769173275 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001852.4(COL9A2):c.*386C>T rs932745561 0.00003
NM_001852.4(COL9A2):c.1599G>T (p.Leu533=) rs142974512 0.00003
NM_001852.4(COL9A2):c.741C>A (p.Gly247=) rs747133313 0.00003
NM_001854.4(COL11A1):c.*1488G>C rs886044968 0.00003
NM_001854.4(COL11A1):c.1341A>G (p.Ala447=) rs372963982 0.00003
NM_001854.4(COL11A1):c.2044G>A (p.Gly682Ser) rs369011087 0.00003
NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu) rs1319482941 0.00003
NM_001854.4(COL11A1):c.3817-10C>A rs776718424 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_002010.3(FGF9):c.*124C>A rs886050045 0.00003
NM_002010.3(FGF9):c.-256G>A rs780183885 0.00003
NM_002335.4(LRP5):c.1096G>A (p.Val366Met) rs367543496 0.00003
NM_002335.4(LRP5):c.1992C>T (p.Asn664=) rs760151423 0.00003
NM_002335.4(LRP5):c.2173G>A (p.Val725Ile) rs769035778 0.00003
NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser) rs754686025 0.00003
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr) rs759063931 0.00003
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys) rs752352965 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) rs373823574 0.00003
NM_002335.4(LRP5):c.556C>T (p.Arg186Trp) rs200484935 0.00003
NM_002381.5(MATN3):c.*1044A>C rs901185703 0.00003
NM_002427.4(MMP13):c.*156A>G rs544003228 0.00003
NM_002427.4(MMP13):c.*275T>C rs781825443 0.00003
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) rs776218196 0.00003
NM_002615.7(SERPINF1):c.42C>T (p.Leu14=) rs781013736 0.00003
NM_002615.7(SERPINF1):c.713C>T (p.Thr238Ile) rs748011764 0.00003
NM_002693.3(POLG):c.3644-116T>C rs777372106 0.00003
NM_002734.5(PRKAR1A):c.*1487C>T rs886053314 0.00003
NM_002734.5(PRKAR1A):c.*299T>G rs569225886 0.00003
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131 0.00003
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006 0.00003
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln) rs748681103 0.00003
NM_003036.4(SKI):c.1767+11C>T rs202132957 0.00003
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513 0.00003
NM_003036.4(SKI):c.878G>A (p.Gly293Asp) rs756571135 0.00003
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745 0.00003
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003722.5(TP63):c.1352C>G (p.Thr451Ser) rs747305746 0.00003
NM_003722.5(TP63):c.1697C>T (p.Thr566Met) rs745687224 0.00003
NM_003722.5(TP63):c.1807G>C (p.Asp603His) rs767906723 0.00003
NM_003722.5(TP63):c.50C>G (p.Pro17Arg) rs1408730457 0.00003
NM_003995.4(NPR2):c.1070C>T (p.Thr357Ile) rs772725792 0.00003
NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln) rs766433291 0.00003
NM_003995.4(NPR2):c.1644C>T (p.Val548=) rs772510686 0.00003
NM_003995.4(NPR2):c.1670G>A (p.Arg557His) rs766118843 0.00003
NM_003995.4(NPR2):c.1839C>G (p.Ile613Met) rs951956774 0.00003
NM_003995.4(NPR2):c.2721G>A (p.Thr907=) rs758549770 0.00003
NM_003995.4(NPR2):c.631G>A (p.Glu211Lys) rs201027721 0.00003
NM_003995.4(NPR2):c.725G>A (p.Arg242Lys) rs774099913 0.00003
NM_003995.4(NPR2):c.833G>A (p.Arg278His) rs114995755 0.00003
NM_003995.4(NPR2):c.952C>T (p.Arg318Trp) rs764711038 0.00003
NM_004239.4(TRIP11):c.-267A>G rs886050912 0.00003
NM_004239.4(TRIP11):c.-58C>T rs886050909 0.00003
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile) rs142078341 0.00003
NM_004239.4(TRIP11):c.3932T>C (p.Ile1311Thr) rs376783690 0.00003
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) rs373454645 0.00003
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=) rs746081059 0.00003
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) rs372272441 0.00003
NM_004239.4(TRIP11):c.4673T>A (p.Met1558Lys) rs373869385 0.00003
NM_004239.4(TRIP11):c.506C>T (p.Ser169Leu) rs766742508 0.00003
NM_004239.4(TRIP11):c.5200T>C (p.Ser1734Pro) rs764978725 0.00003
NM_004260.4(RECQL4):c.1100G>A (p.Arg367Gln) rs766344677 0.00003
NM_004260.4(RECQL4):c.1228G>C (p.Asp410His) rs558779399 0.00003
NM_004260.4(RECQL4):c.1252C>T (p.Arg418Trp) rs369670064 0.00003
NM_004260.4(RECQL4):c.127C>T (p.Arg43Trp) rs761113605 0.00003
NM_004260.4(RECQL4):c.1295C>T (p.Pro432Leu) rs368160954 0.00003
NM_004260.4(RECQL4):c.1415C>T (p.Ala472Val) rs587778653 0.00003
NM_004260.4(RECQL4):c.1444C>T (p.Arg482Cys) rs573164516 0.00003
NM_004260.4(RECQL4):c.1517C>G (p.Ala506Gly) rs1237298928 0.00003
NM_004260.4(RECQL4):c.1628G>T (p.Gly543Val) rs530780933 0.00003
NM_004260.4(RECQL4):c.1664C>T (p.Ser555Leu) rs755425093 0.00003
NM_004260.4(RECQL4):c.1667G>A (p.Gly556Asp) rs575020739 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.1939C>T (p.Arg647Cys) rs775127620 0.00003
NM_004260.4(RECQL4):c.1940G>T (p.Arg647Leu) rs372664774 0.00003
NM_004260.4(RECQL4):c.2054A>G (p.Asp685Gly) rs985330329 0.00003
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004260.4(RECQL4):c.2113A>G (p.Ile705Val) rs374262706 0.00003
NM_004260.4(RECQL4):c.2134G>A (p.Asp712Asn) rs753254336 0.00003
NM_004260.4(RECQL4):c.2203C>T (p.Arg735Cys) rs760748569 0.00003
NM_004260.4(RECQL4):c.2242A>T (p.Met748Leu) rs370755504 0.00003
NM_004260.4(RECQL4):c.2244G>A (p.Met748Ile) rs767427869 0.00003
NM_004260.4(RECQL4):c.2275G>A (p.Ala759Thr) rs1198791067 0.00003
NM_004260.4(RECQL4):c.2307_2309dup (p.Ala770dup) rs748979321 0.00003
NM_004260.4(RECQL4):c.2506A>G (p.Ser836Gly) rs776668549 0.00003
NM_004260.4(RECQL4):c.2582C>T (p.Pro861Leu) rs878854647 0.00003
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323 0.00003
NM_004260.4(RECQL4):c.2596G>A (p.Gly866Arg) rs778081949 0.00003
NM_004260.4(RECQL4):c.2605G>A (p.Gly869Ser) rs750282072 0.00003
NM_004260.4(RECQL4):c.2692A>G (p.Met898Val) rs776189878 0.00003
NM_004260.4(RECQL4):c.2754G>A (p.Glu918=) rs1060501377 0.00003
NM_004260.4(RECQL4):c.278C>T (p.Thr93Met) rs754149435 0.00003
NM_004260.4(RECQL4):c.2855G>A (p.Gly952Asp) rs776281689 0.00003
NM_004260.4(RECQL4):c.2929G>A (p.Asp977Asn) rs780492921 0.00003
NM_004260.4(RECQL4):c.293G>C (p.Arg98Pro) rs769634470 0.00003
NM_004260.4(RECQL4):c.2987T>C (p.Met996Thr) rs771326102 0.00003
NM_004260.4(RECQL4):c.3163C>T (p.Leu1055Phe) rs769823922 0.00003
NM_004260.4(RECQL4):c.3205C>T (p.Arg1069Cys) rs758648484 0.00003
NM_004260.4(RECQL4):c.3212G>A (p.Arg1071His) rs773856131 0.00003
NM_004260.4(RECQL4):c.3238G>A (p.Val1080Ile) rs760241032 0.00003
NM_004260.4(RECQL4):c.3256G>A (p.Gly1086Arg) rs587778646 0.00003
NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys) rs371049072 0.00003
NM_004260.4(RECQL4):c.3316C>T (p.Arg1106Cys) rs770193726 0.00003
NM_004260.4(RECQL4):c.345C>T (p.Gly115=) rs377027093 0.00003
NM_004260.4(RECQL4):c.3485G>A (p.Arg1162His) rs747815189 0.00003
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu) rs772265082 0.00003
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) rs763965257 0.00003
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178 0.00003
NM_004260.4(RECQL4):c.35A>G (p.Gln12Arg) rs905077826 0.00003
NM_004260.4(RECQL4):c.3618G>A (p.Val1206=) rs754822264 0.00003
NM_004260.4(RECQL4):c.361C>G (p.Pro121Ala) rs756069461 0.00003
NM_004260.4(RECQL4):c.3623G>A (p.Arg1208His) rs563816306 0.00003
NM_004260.4(RECQL4):c.391G>C (p.Gly131Arg) rs561427528 0.00003
NM_004260.4(RECQL4):c.425C>T (p.Pro142Leu) rs370312522 0.00003
NM_004260.4(RECQL4):c.511C>T (p.Arg171Trp) rs775651175 0.00003
NM_004260.4(RECQL4):c.599A>G (p.Asp200Gly) rs755687763 0.00003
NM_004260.4(RECQL4):c.655C>T (p.Leu219Phe) rs756820839 0.00003
NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys) rs746487281 0.00003
NM_004260.4(RECQL4):c.796G>A (p.Glu266Lys) rs543009701 0.00003
NM_004260.4(RECQL4):c.7C>T (p.Arg3Trp) rs886042531 0.00003
NM_004260.4(RECQL4):c.886G>A (p.Glu296Lys) rs1024635326 0.00003
NM_004260.4(RECQL4):c.962G>A (p.Gly321Glu) rs1220650736 0.00003
NM_004260.4(RECQL4):c.970C>T (p.Pro324Ser) rs781105713 0.00003
NM_004273.5(CHST3):c.*1698C>G rs377338550 0.00003
NM_004273.5(CHST3):c.*2535C>T rs746330162 0.00003
NM_004273.5(CHST3):c.*3245G>A rs545967470 0.00003
NM_004273.5(CHST3):c.*410C>T rs886047160 0.00003
NM_004273.5(CHST3):c.*4523A>G rs1280459396 0.00003
NM_004273.5(CHST3):c.*4821G>A rs886047184 0.00003
NM_004273.5(CHST3):c.*812G>A rs886047162 0.00003
NM_004273.5(CHST3):c.1184C>T (p.Pro395Leu) rs756147851 0.00003
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) rs368468468 0.00003
NM_004273.5(CHST3):c.320T>A (p.Met107Lys) rs765024887 0.00003
NM_004273.5(CHST3):c.7A>G (p.Lys3Glu) rs199515173 0.00003
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His) rs141098117 0.00003
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr) rs200673670 0.00003
NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr) rs373284909 0.00003
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu) rs942848385 0.00003
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met) rs140133512 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu) rs765821935 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala) rs375757497 0.00003
NM_004629.2(FANCG):c.1298G>A (p.Arg433Gln) rs748738986 0.00003
NM_004629.2(FANCG):c.1441G>C (p.Glu481Gln) rs772460728 0.00003
NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro) rs1414696119 0.00003
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr) rs200466062 0.00003
NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala) rs541868979 0.00003
NM_004629.2(FANCG):c.1805C>A (p.Pro602His) rs370950631 0.00003
NM_004629.2(FANCG):c.181C>T (p.Pro61Ser) rs931163229 0.00003
NM_004629.2(FANCG):c.380G>A (p.Arg127His) rs780985218 0.00003
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu) rs1270561172 0.00003
NM_004629.2(FANCG):c.730G>A (p.Val244Met) rs746248064 0.00003
NM_004629.2(FANCG):c.934G>A (p.Val312Ile) rs530535955 0.00003
NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr) rs760865789 0.00003
NM_004836.7(EIF2AK3):c.1165+10T>C rs745614562 0.00003
NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=) rs765544171 0.00003
NM_005032.7(PLS3):c.1192C>T (p.Arg398Cys) rs377411857 0.00003
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys) rs144602005 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00003
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln) rs144058769 0.00003
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn) rs1567253853 0.00003
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val) rs141790888 0.00003
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) rs1211543560 0.00003
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg) rs775257742 0.00003
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile) rs763811136 0.00003
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val) rs941012957 0.00003
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr) rs764093404 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro) rs1457864707 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala) rs777183693 0.00003
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) rs143856570 0.00003
NM_005445.4(SMC3):c.2589A>G (p.Thr863=) rs768482776 0.00003
NM_005445.4(SMC3):c.3101A>G (p.Lys1034Arg) rs1278347837 0.00003
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His) rs776453694 0.00003
NM_005529.7(HSPG2):c.10355+13G>A rs749712460 0.00003
NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His) rs376190109 0.00003
NM_005529.7(HSPG2):c.12949G>A (p.Gly4317Ser) rs567999404 0.00003
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) rs768946900 0.00003
NM_005529.7(HSPG2):c.2027C>T (p.Pro676Leu) rs552160652 0.00003
NM_005529.7(HSPG2):c.3100G>A (p.Gly1034Ser) rs886046041 0.00003
NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg) rs764233594 0.00003
NM_005529.7(HSPG2):c.4434C>T (p.Arg1478=) rs767789034 0.00003
NM_005529.7(HSPG2):c.4887G>A (p.Glu1629=) rs745452531 0.00003
NM_005529.7(HSPG2):c.4899C>T (p.Ala1633=) rs775314207 0.00003
NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg) rs368801694 0.00003
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_005529.7(HSPG2):c.5998-5G>A rs764410384 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=) rs752099132 0.00003
NM_005529.7(HSPG2):c.7610G>A (p.Arg2537His) rs752745046 0.00003
NM_005529.7(HSPG2):c.8026-10G>T rs377601366 0.00003
NM_005529.7(HSPG2):c.8882G>A (p.Arg2961His) rs202072683 0.00003
NM_005529.7(HSPG2):c.9096C>T (p.Thr3032=) rs749580877 0.00003
NM_005529.7(HSPG2):c.9175C>T (p.Arg3059Trp) rs760017518 0.00003
NM_005529.7(HSPG2):c.9604G>A (p.Val3202Met) rs760284909 0.00003
NM_005529.7(HSPG2):c.9890-4T>G rs770388964 0.00003
NM_005816.5(CD96):c.*1364G>A rs368097665 0.00003
NM_006031.6(PCNT):c.138C>T (p.Val46=) rs762863150 0.00003
NM_006031.6(PCNT):c.139G>C (p.Asp47His) rs112837071 0.00003
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly) rs771897801 0.00003
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) rs138361417 0.00003
NM_006031.6(PCNT):c.336T>C (p.His112=) rs59157477 0.00003
NM_006031.6(PCNT):c.339T>A (p.Pro113=) rs59662841 0.00003
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys) rs886057181 0.00003
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile) rs886057183 0.00003
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn) rs762126145 0.00003
NM_006031.6(PCNT):c.481G>A (p.Val161Ile) rs555841008 0.00003
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309 0.00003
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln) rs770575971 0.00003
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) rs761816773 0.00003
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315 0.00003
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) rs527590016 0.00003
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu) rs572123043 0.00003
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val) rs144775948 0.00003
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453 0.00003
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741 0.00003
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697 0.00003
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln) rs149779006 0.00003
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly) rs886057178 0.00003
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) rs761885630 0.00003
NM_006031.6(PCNT):c.8290G>C (p.Glu2764Gln) rs372871511 0.00003
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys) rs775636867 0.00003
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570 0.00003
NM_006129.5(BMP1):c.*208G>T rs868717468 0.00003
NM_006129.5(BMP1):c.2594G>A (p.Arg865Gln) rs142443043 0.00003
NM_006129.5(BMP1):c.2700C>T (p.Tyr900=) rs1264208772 0.00003
NM_006129.5(BMP1):c.402C>T (p.Val134=) rs773025752 0.00003
NM_006182.4(DDR2):c.1508G>C (p.Cys503Ser) rs573628844 0.00003
NM_006182.4(DDR2):c.2397G>C (p.Glu799Asp) rs762649297 0.00003
NM_006182.4(DDR2):c.418-12C>T rs748670636 0.00003
NM_006265.3(RAD21):c.1400C>T (p.Ala467Val) rs1445148501 0.00003
NM_006265.3(RAD21):c.1757G>A (p.Arg586Gln) rs780692465 0.00003
NM_006265.3(RAD21):c.1782C>T (p.Ala594=) rs61737172 0.00003
NM_006306.4(SMC1A):c.*4087G>A rs1057515957 0.00003
NM_006306.4(SMC1A):c.*4581T>C rs1057515955 0.00003
NM_006306.4(SMC1A):c.*675A>G rs1415804526 0.00003
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr) rs1034852654 0.00003
NM_006371.5(CRTAP):c.*4190C>T rs1427913520 0.00003
NM_006371.5(CRTAP):c.*4691T>C rs775051039 0.00003
NM_006371.5(CRTAP):c.*608G>A rs886058352 0.00003
NM_006371.5(CRTAP):c.*865C>G rs545771795 0.00003
NM_006371.5(CRTAP):c.1067C>G (p.Pro356Arg) rs1487896301 0.00003
NM_006371.5(CRTAP):c.143A>G (p.Tyr48Cys) rs768012717 0.00003
NM_006371.5(CRTAP):c.308A>G (p.Tyr103Cys) rs769117004 0.00003
NM_006371.5(CRTAP):c.376C>T (p.Leu126=) rs756961672 0.00003
NM_006371.5(CRTAP):c.976C>G (p.Gln326Glu) rs116821774 0.00003
NM_006494.4(ERF):c.1222G>A (p.Gly408Arg) rs764764288 0.00003
NM_006494.4(ERF):c.1478G>A (p.Arg493His) rs762382429 0.00003
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser) rs138496419 0.00003
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 0.00003
NM_012330.4(KAT6B):c.3232G>A (p.Glu1078Lys) rs184028635 0.00003
NM_012330.4(KAT6B):c.3358G>T (p.Ala1120Ser) rs777180869 0.00003
NM_012330.4(KAT6B):c.3539T>G (p.Val1180Gly) rs1213787718 0.00003
NM_012330.4(KAT6B):c.3847C>G (p.Pro1283Ala) rs371747862 0.00003
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) rs764565963 0.00003
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) rs199792793 0.00003
NM_012330.4(KAT6B):c.5831A>G (p.Tyr1944Cys) rs143966521 0.00003
NM_012330.4(KAT6B):c.5863C>G (p.Pro1955Ala) rs762788479 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_012463.4(ATP6V0A2):c.*2090C>T rs772018611 0.00003
NM_012463.4(ATP6V0A2):c.*3269A>G rs567165258 0.00003
NM_012463.4(ATP6V0A2):c.*575G>A rs996318859 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_014140.3(SMARCAL1):c.-316T>C rs1158002165 0.00003
NM_014140.4(SMARCAL1):c.-48C>A rs576450027 0.00003
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile) rs369180164 0.00003
NM_014140.4(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042 0.00003
NM_014140.4(SMARCAL1):c.1317T>G (p.Phe439Leu) rs771757954 0.00003
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192 0.00003
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00003
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln) rs145264115 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_014140.4(SMARCAL1):c.1996C>T (p.Pro666Ser) rs376035215 0.00003
NM_014140.4(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077 0.00003
NM_014140.4(SMARCAL1):c.2529-4A>G rs886042978 0.00003
NM_014140.4(SMARCAL1):c.733G>A (p.Gly245Ser) rs137914185 0.00003
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616 0.00003
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr) rs767482393 0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) rs140707035 0.00003
NM_014762.4(DHCR24):c.*984G>A rs776318516 0.00003
NM_015139.3(SLC35D1):c.891_892del (p.Ile299fs) rs745564692 0.00003
NM_015139.3(SLC35D1):c.902T>C (p.Met301Thr) rs936897641 0.00003
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu) rs535199429 0.00003
NM_015631.6(TCTN3):c.178G>A (p.Val60Met) rs557962090 0.00003
NM_015909.4(NBAS):c.2893G>A (p.Asp965Asn) rs201635424 0.00003
NM_015909.4(NBAS):c.3360+17A>G rs201033267 0.00003
NM_015909.4(NBAS):c.3932-9A>G rs533290092 0.00003
NM_015909.4(NBAS):c.7003C>T (p.Arg2335Trp) rs372119905 0.00003
NM_016277.5(RAB23):c.-49C>T rs45474592 0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 0.00003
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) rs190721271 0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro) rs1408874772 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) rs779880917 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 0.00003
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003 0.00003
NM_018062.4(FANCL):c.*515A>C rs971589098 0.00003
NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg) rs745544496 0.00003
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu) rs771772034 0.00003
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys) rs376528147 0.00003
NM_018475.5(TMEM165):c.506T>C (p.Ile169Thr) rs150519910 0.00003
NM_020223.4(FAM20C):c.1651C>T (p.Arg551Cys) rs772938056 0.00003
NM_020297.4(ABCC9):c.1012-7G>A rs727502874 0.00003
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile) rs151197166 0.00003
NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys) rs199499109 0.00003
NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile) rs180739851 0.00003
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys) rs143685061 0.00003
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=) rs2287626 0.00003
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) rs199900459 0.00003
NM_020436.5(SALL4):c.2447G>A (p.Arg816His) rs747560279 0.00003
NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) rs943513953 0.00003
NM_020436.5(SALL4):c.766A>G (p.Thr256Ala) rs139802240 0.00003
NM_020779.4(WDR35):c.*1038C>G rs145549829 0.00003
NM_020779.4(WDR35):c.*1218C>T rs990547735 0.00003
NM_020779.4(WDR35):c.*1821A>G rs978221263 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.142+5A>G rs762617889 0.00003
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile) rs143397737 0.00003
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys) rs781365658 0.00003
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp) rs374027943 0.00003
NM_020779.4(WDR35):c.2864G>A (p.Arg955His) rs780666056 0.00003
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) rs376284452 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_020779.4(WDR35):c.628A>G (p.Ile210Val) rs1413290520 0.00003
NM_020779.4(WDR35):c.766G>A (p.Val256Ile) rs745580829 0.00003
NM_020812.4(DOCK6):c.6014G>A (p.Arg2005His) rs768594454 0.00003
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln) rs140744346 0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020937.4(FANCM):c.1706G>A (p.Arg569His) rs754308821 0.00003
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu) rs775663650 0.00003
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) rs777379515 0.00003
NM_020937.4(FANCM):c.2286G>A (p.Met762Ile) rs768567945 0.00003
NM_020937.4(FANCM):c.2358A>C (p.Gln786His) rs367741599 0.00003
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) rs752560995 0.00003
NM_020937.4(FANCM):c.2762G>A (p.Cys921Tyr) rs752914487 0.00003
NM_020937.4(FANCM):c.3232C>T (p.Pro1078Ser) rs189723011 0.00003
NM_020937.4(FANCM):c.3407T>C (p.Leu1136Ser) rs770989272 0.00003
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe) rs1180319315 0.00003
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly) rs946759727 0.00003
NM_020937.4(FANCM):c.4318-3T>G rs367696095 0.00003
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr) rs553521590 0.00003
NM_020937.4(FANCM):c.4456G>A (p.Val1486Ile) rs192438733 0.00003
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp) rs375640203 0.00003
NM_020937.4(FANCM):c.461G>C (p.Cys154Ser) rs766755069 0.00003
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp) rs919256712 0.00003
NM_020937.4(FANCM):c.544T>A (p.Cys182Ser) rs992613830 0.00003
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg) rs764031097 0.00003
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) rs148945714 0.00003
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu) rs201383385 0.00003
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn) rs192079020 0.00003
NM_020937.4(FANCM):c.655G>A (p.Ala219Thr) rs1300272683 0.00003
NM_020937.4(FANCM):c.68C>A (p.Pro23Gln) rs377031191 0.00003
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys) rs751006401 0.00003
NM_020937.4(FANCM):c.950A>G (p.Gln317Arg) rs375644492 0.00003
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=) rs750086412 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) rs370289434 0.00003
NM_021922.3(FANCE):c.-132A>G rs886061325 0.00003
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr) rs759782690 0.00003
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr) rs1365782479 0.00003
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val) rs776298967 0.00003
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile) rs201970876 0.00003
NM_021922.3(FANCE):c.199C>A (p.Leu67Met) rs1161408735 0.00003
NM_021922.3(FANCE):c.248+5G>A rs1027705914 0.00003
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 0.00003
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro) rs781123077 0.00003
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr) rs151276683 0.00003
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg) rs747727711 0.00003
NM_021939.4(FKBP10):c.1693G>A (p.Asp565Asn) rs201944190 0.00003
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp) rs140286143 0.00003
NM_022166.4(XYLT1):c.1211G>A (p.Ser404Asn) rs146025263 0.00003
NM_022166.4(XYLT1):c.1370+5C>T rs372104324 0.00003
NM_022166.4(XYLT1):c.1588T>G (p.Ser530Ala) rs148992515 0.00003
NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser) rs368060072 0.00003
NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg) rs556515927 0.00003
NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg) rs1251643007 0.00003
NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met) rs368097793 0.00003
NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu) rs909102121 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_022166.4(XYLT1):c.670G>A (p.Ala224Thr) rs534156689 0.00003
NM_022167.4(XYLT2):c.1623C>T (p.Tyr541=) rs750349082 0.00003
NM_022167.4(XYLT2):c.2420C>T (p.Ala807Val) rs565634363 0.00003
NM_022167.4(XYLT2):c.859G>A (p.Val287Met) rs200767788 0.00003
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys) rs113854430 0.00003
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079 0.00003
NM_022168.4(IFIH1):c.1240G>C (p.Ala414Pro) rs201917037 0.00003
NM_022168.4(IFIH1):c.1457G>C (p.Gly486Ala) rs141748480 0.00003
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr) rs763096939 0.00003
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val) rs186942719 0.00003
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn) rs567418553 0.00003
NM_022168.4(IFIH1):c.2045-1G>A rs748813106 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_022168.4(IFIH1):c.2305-2A>G rs199696786 0.00003
NM_022168.4(IFIH1):c.2447del (p.Met816fs) rs1349369420 0.00003
NM_022168.4(IFIH1):c.2616+6G>T rs761784724 0.00003
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr) rs748688202 0.00003
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs) rs1392296770 0.00003
NM_022168.4(IFIH1):c.63G>T (p.Arg21Ser) rs553228814 0.00003
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter) rs74162079 0.00003
NM_022356.4(P3H1):c.*5G>A rs994709040 0.00003
NM_022356.4(P3H1):c.1076G>A (p.Arg359His) rs559371057 0.00003
NM_022356.4(P3H1):c.1135G>A (p.Ala379Thr) rs762013462 0.00003
NM_022356.4(P3H1):c.1208T>C (p.Leu403Ser) rs143930669 0.00003
NM_022356.4(P3H1):c.1215G>A (p.Glu405=) rs527679322 0.00003
NM_022356.4(P3H1):c.1411C>T (p.Arg471Trp) rs147230023 0.00003
NM_022356.4(P3H1):c.1412G>T (p.Arg471Leu) rs377645905 0.00003
NM_022356.4(P3H1):c.1625C>T (p.Thr542Met) rs201236270 0.00003
NM_022356.4(P3H1):c.1640G>A (p.Arg547His) rs750685729 0.00003
NM_022356.4(P3H1):c.2104G>A (p.Glu702Lys) rs565510744 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.394C>T (p.Leu132Phe) rs769782854 0.00003
NM_022356.4(P3H1):c.511G>A (p.Val171Met) rs997474863 0.00003
NM_022356.4(P3H1):c.566T>C (p.Met189Thr) rs776145937 0.00003
NM_022356.4(P3H1):c.629G>A (p.Arg210Gln) rs373561725 0.00003
NM_022356.4(P3H1):c.739G>A (p.Glu247Lys) rs760265361 0.00003
NM_022356.4(P3H1):c.970G>A (p.Ala324Thr) rs962560071 0.00003
NM_022458.4(LMBR1):c.*2147T>C rs1273499025 0.00003
NM_022458.4(LMBR1):c.*246G>A rs745661512 0.00003
NM_022458.4(LMBR1):c.*2798C>T rs746253016 0.00003
NM_022458.4(LMBR1):c.*3180A>C rs886062110 0.00003
NM_022458.4(LMBR1):c.*3187A>G rs866814626 0.00003
NM_022458.4(LMBR1):c.-158G>A rs886062123 0.00003
NM_022725.3(FANCF):c.-21A>G rs751857151 0.00003
NM_022725.4(FANCF):c.*1884T>C rs760103091 0.00003
NM_022725.4(FANCF):c.*2071A>G rs886048148 0.00003
NM_022725.4(FANCF):c.*597G>A rs373336301 0.00003
NM_022725.4(FANCF):c.*7C>G rs770964562 0.00003
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn) rs149687560 0.00003
NM_022725.4(FANCF):c.101C>T (p.Ala34Val) rs780228540 0.00003
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) rs371420932 0.00003
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro) rs1423734778 0.00003
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly) rs759470099 0.00003
NM_022725.4(FANCF):c.37G>A (p.Glu13Lys) rs766362210 0.00003
NM_022725.4(FANCF):c.67G>T (p.Val23Phe) rs777143902 0.00003
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser) rs368067979 0.00003
NM_023110.3(FGFR1):c.*1286C>T rs886062909 0.00003
NM_023110.3(FGFR1):c.*1560C>T rs761096092 0.00003
NM_023110.3(FGFR1):c.*1965G>A rs886062907 0.00003
NM_023110.3(FGFR1):c.*2408C>T rs1004230937 0.00003
NM_023110.3(FGFR1):c.*262C>T rs915960243 0.00003
NM_023110.3(FGFR1):c.*70C>T rs886062918 0.00003
NM_023110.3(FGFR1):c.*762A>G rs886062914 0.00003
NM_023110.3(FGFR1):c.*802C>T rs938792635 0.00003
NM_023110.3(FGFR1):c.*991G>A rs866647792 0.00003
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu) rs372654433 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) rs777345476 0.00003
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) rs1301127877 0.00003
NM_023110.3(FGFR1):c.181G>A (p.Val61Met) rs762089291 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) rs587780204 0.00003
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile) rs767926590 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 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.2336C>T (p.Ser779Leu) rs764509489 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 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_025132.4(WDR19):c.*131C>T rs886059404 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) rs769329045 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg) rs766752510 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_031296.3(RAB33B):c.*494A>C rs886059079 0.00003
NM_031296.3(RAB33B):c.-48C>T rs748718122 0.00003
NM_032043.2(BRIP1):c.-307G>A rs936277521 0.00003
NM_032043.3(BRIP1):c.*1393G>T rs754698039 0.00003
NM_032043.3(BRIP1):c.*2668G>A rs886053206 0.00003
NM_032043.3(BRIP1):c.*2691C>G rs886053205 0.00003
NM_032043.3(BRIP1):c.*2999T>C rs1357312726 0.00003
NM_032043.3(BRIP1):c.*3635T>C rs548812634 0.00003
NM_032043.3(BRIP1):c.*3924T>G rs886053195 0.00003
NM_032043.3(BRIP1):c.*900C>A rs886053210 0.00003
NM_032043.3(BRIP1):c.-229C>G rs886053217 0.00003
NM_032043.3(BRIP1):c.1153C>A (p.Leu385Met) rs748001678 0.00003
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val) rs863224798 0.00003
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg) rs746329838 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu) rs777217004 0.00003
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His) rs768224857 0.00003
NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu) rs745367580 0.00003
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170 0.00003
NM_032043.3(BRIP1):c.2047G>C (p.Val683Leu) rs773347072 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.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys) rs781556845 0.00003
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile) rs149529390 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 0.00003
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys) rs754280048 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile) rs201672040 0.00003
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys) rs748793974 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.3730_3731del (p.Met1244fs) rs730881646 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln) rs876660125 0.00003
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly) rs878855158 0.00003
NM_032444.4(SLX4):c.*652A>G rs546917026 0.00003
NM_032444.4(SLX4):c.-399C>T rs1177862096 0.00003
NM_032444.4(SLX4):c.-603+8G>C rs886051987 0.00003
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704 0.00003
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) rs372956623 0.00003
NM_032444.4(SLX4):c.1159T>G (p.Phe387Val) rs373810042 0.00003
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile) rs775559576 0.00003
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln) rs200030312 0.00003
NM_032444.4(SLX4):c.1222C>T (p.Arg408Trp) rs758029323 0.00003
NM_032444.4(SLX4):c.1231C>T (p.Arg411Trp) rs761227900 0.00003
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala) rs763833617 0.00003
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589 0.00003
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys) rs762550449 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys) rs143831403 0.00003
NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser) rs374644679 0.00003
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr) rs764210911 0.00003
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser) rs144454312 0.00003
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr) rs138124860 0.00003
NM_032444.4(SLX4):c.2125G>A (p.Val709Met) rs151026877 0.00003
NM_032444.4(SLX4):c.2332G>C (p.Gly778Arg) rs142722925 0.00003
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln) rs143730668 0.00003
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp) rs202237877 0.00003
NM_032444.4(SLX4):c.2990C>T (p.Pro997Leu) rs774243118 0.00003
NM_032444.4(SLX4):c.2998A>G (p.Ile1000Val) rs772540192 0.00003
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643 0.00003
NM_032444.4(SLX4):c.3089C>T (p.Pro1030Leu) rs774562724 0.00003
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu) rs200924744 0.00003
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser) rs201359490 0.00003
NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly) rs186784513 0.00003
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser) rs775853263 0.00003
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys) rs201422743 0.00003
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg) rs376437029 0.00003
NM_032444.4(SLX4):c.4313T>C (p.Ile1438Thr) rs779769996 0.00003
NM_032444.4(SLX4):c.433G>A (p.Ala145Thr) rs780711582 0.00003
NM_032444.4(SLX4):c.4366C>T (p.Arg1456Cys) rs760286353 0.00003
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His) rs774858804 0.00003
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn) rs779970904 0.00003
NM_032444.4(SLX4):c.4402C>T (p.Arg1468Cys) rs760497928 0.00003
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe) rs759045352 0.00003
NM_032444.4(SLX4):c.4478C>T (p.Ser1493Leu) rs565491187 0.00003
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu) rs370637700 0.00003
NM_032444.4(SLX4):c.4751G>A (p.Arg1584His) rs199969428 0.00003
NM_032444.4(SLX4):c.4766G>A (p.Arg1589His) rs746314060 0.00003
NM_032444.4(SLX4):c.485C>T (p.Thr162Met) rs140876043 0.00003
NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr) rs145527531 0.00003
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp) rs886051977 0.00003
NM_032444.4(SLX4):c.5000A>G (p.His1667Arg) rs139304111 0.00003
NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu) rs144057906 0.00003
NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser) rs780678810 0.00003
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp) rs771230395 0.00003
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn) rs201769293 0.00003
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp) rs199912910 0.00003
NM_032444.4(SLX4):c.752C>T (p.Ala251Val) rs201117707 0.00003
NM_032444.4(SLX4):c.806C>T (p.Ala269Val) rs750475726 0.00003
NM_032444.4(SLX4):c.922G>A (p.Val308Met) rs775151113 0.00003
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln) rs759447034 0.00003
NM_032444.4(SLX4):c.97G>T (p.Asp33Tyr) rs780117582 0.00003
NM_032888.4(COL27A1):c.1883G>A (p.Gly628Glu) rs746488198 0.00003
NM_052989.3(IFT122):c.*16C>T rs763993447 0.00003
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr) rs376362722 0.00003
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) rs377690924 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3554G>A (p.Arg1185Gln) rs754808589 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys) rs778449955 0.00003
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00003
NM_058216.3(RAD51C):c.1006A>C (p.Thr336Pro) rs772344354 0.00003
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) rs587782565 0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.1118A>C (p.Glu373Ala) rs758223998 0.00003
NM_058216.3(RAD51C):c.121G>C (p.Val41Leu) rs879254131 0.00003
NM_058216.3(RAD51C):c.189T>G (p.Ile63Met) rs730881923 0.00003
NM_058216.3(RAD51C):c.287C>G (p.Thr96Ser) rs750381200 0.00003
NM_058216.3(RAD51C):c.451G>C (p.Val151Leu) rs753912045 0.00003
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526 0.00003
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182 0.00003
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr) rs777575172 0.00003
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val) rs778444849 0.00003
NM_080605.4(B3GALT6):c.667G>A (p.Asp223Asn) rs548246291 0.00003
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) rs775252357 0.00003
NM_080680.3(COL11A2):c.-21C>G rs767695417 0.00003
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=) rs528251146 0.00003
NM_080680.3(COL11A2):c.628A>G (p.Ile210Val) rs778295133 0.00003
NM_133433.4(NIPBL):c.*32A>T rs758539444 0.00003
NM_133433.4(NIPBL):c.*545A>G rs886060566 0.00003
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152 0.00003
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485 0.00003
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) rs61755039 0.00003
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His) rs770286768 0.00003
NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=) rs1187325987 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_152281.3(GORAB):c.*944A>G rs371932538 0.00003
NM_152281.3(GORAB):c.-28C>G rs553663341 0.00003
NM_152281.3(GORAB):c.24C>G (p.Phe8Leu) rs151006839 0.00003
NM_152281.3(GORAB):c.782T>A (p.Leu261His) rs773952908 0.00003
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys) rs771560788 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.461A>G (p.Glu154Gly) rs1386247667 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 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_181486.4(TBX5):c.*277C>T rs886048995 0.00003
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.618T>G (p.Phe206Leu) rs533581420 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_182943.3(PLOD2):c.*25A>C rs143499824 0.00003
NM_182943.3(PLOD2):c.*742A>G rs1255788955 0.00003
NM_182943.3(PLOD2):c.-188C>G rs1457359819 0.00003
NM_182943.3(PLOD2):c.616-13T>A rs149019740 0.00003
NM_203486.3(DLL3):c.1758+20C>G rs778339882 0.00003
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser) rs139344099 0.00003
NM_213599.3(ANO5):c.11C>G (p.Pro4Arg) rs376116831 0.00003
NM_213599.3(ANO5):c.1227A>G (p.Glu409=) rs781554633 0.00003
NM_213599.3(ANO5):c.1312A>C (p.Lys438Gln) rs761417429 0.00003
NM_213599.3(ANO5):c.1387G>A (p.Gly463Arg) rs776193177 0.00003
NM_213599.3(ANO5):c.1407+6C>A rs748023499 0.00003
NM_213599.3(ANO5):c.1880T>C (p.Ile627Thr) rs766811349 0.00003
NM_213599.3(ANO5):c.2039T>C (p.Phe680Ser) rs777640863 0.00003
NM_213599.3(ANO5):c.2396G>A (p.Arg799Gln) rs747460085 0.00003
NM_213599.3(ANO5):c.2489C>T (p.Ala830Val) rs766853141 0.00003
NM_213599.3(ANO5):c.2675C>T (p.Ser892Phe) rs754663101 0.00003
NM_213599.3(ANO5):c.2689A>C (p.Lys897Gln) rs1474144803 0.00003
NM_213599.3(ANO5):c.31G>A (p.Ala11Thr) rs1373002417 0.00003
NM_213599.3(ANO5):c.416T>C (p.Val139Ala) rs758319655 0.00003
NM_213599.3(ANO5):c.44A>G (p.Glu15Gly) rs886042647 0.00003
NM_213599.3(ANO5):c.457A>G (p.Ile153Val) rs780988638 0.00003
NM_213599.3(ANO5):c.561T>A (p.Phe187Leu) rs754808979 0.00003
NM_213599.3(ANO5):c.581A>G (p.His194Arg) rs146418790 0.00003
NM_213599.3(ANO5):c.696G>A (p.Lys232=) rs773606619 0.00003
NM_213599.3(ANO5):c.736T>C (p.Tyr246His) rs1219063834 0.00003
NM_213599.3(ANO5):c.788C>T (p.Pro263Leu) rs754281591 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NR_003051.3(RMRP):n.-21A>C rs563106486 0.00003
NR_003051.3(RMRP):n.-26A>G rs1479868789 0.00003
NR_003051.4(RMRP):n.103C>T rs954709065 0.00003
NR_003051.4(RMRP):n.140C>T rs746248517 0.00003
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NR_003051.4(RMRP):n.187C>T rs1051076135 0.00003
NR_003051.4(RMRP):n.194C>T rs1045976155 0.00003
NR_003051.4(RMRP):n.204C>T rs964504772 0.00003
NR_003051.4(RMRP):n.206C>T rs925085494 0.00003
NR_003051.4(RMRP):n.214G>A rs145720742 0.00003
NR_003051.4(RMRP):n.233G>A rs774897161 0.00003
NR_003051.4(RMRP):n.263C>G rs533294975 0.00003
NR_003051.4(RMRP):n.95G>A rs767355005 0.00003
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser) rs1557231883 0.00002
NM_000059.4(BRCA2):c.*545T>C rs536333595 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr) rs765232270 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe) rs750671399 0.00002
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe) rs876660249 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000088.4(COL1A1):c.*251dup rs886053154 0.00002
NM_000088.4(COL1A1):c.*93A>G rs367971695 0.00002
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=) rs776229611 0.00002
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr) rs558173513 0.00002
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791 0.00002
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=) rs374465457 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.3532-12C>T rs200458986 0.00002
NM_000088.4(COL1A1):c.3535C>A (p.Pro1179Thr) rs779767483 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_000088.4(COL1A1):c.4248G>A (p.Thr1416=) rs746565111 0.00002
NM_000088.4(COL1A1):c.696+6T>C rs747108049 0.00002
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779 0.00002
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu) rs772238510 0.00002
NM_000089.4(COL1A2):c.1404+4A>C rs369907691 0.00002
NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808 0.00002
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His) rs754443174 0.00002
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His) rs746187799 0.00002
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile) rs752207083 0.00002
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn) rs779934676 0.00002
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His) rs764327381 0.00002
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) rs754149044 0.00002
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys) rs781721538 0.00002
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His) rs748714040 0.00002
NM_000089.4(COL1A2):c.430G>A (p.Asp144Asn) rs981008420 0.00002
NM_000089.4(COL1A2):c.670C>A (p.Arg224Ser) rs763047559 0.00002
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr) rs141075408 0.00002
NM_000112.4(SLC26A2):c.*182C>G rs770082455 0.00002
NM_000112.4(SLC26A2):c.*220T>A rs775637237 0.00002
NM_000112.4(SLC26A2):c.*2289T>C rs886060238 0.00002
NM_000112.4(SLC26A2):c.*2443A>G rs886060241 0.00002
NM_000112.4(SLC26A2):c.*453G>A rs886060229 0.00002
NM_000112.4(SLC26A2):c.1355A>G (p.His452Arg) rs1255485754 0.00002
NM_000112.4(SLC26A2):c.2218T>A (p.Ter740Lys) rs747357127 0.00002
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys) rs762787339 0.00002
NM_000112.4(SLC26A2):c.535G>A (p.Glu179Lys) rs755031722 0.00002
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00002
NM_000112.4(SLC26A2):c.740A>G (p.Tyr247Cys) rs768745973 0.00002
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) rs752532498 0.00002
NM_000135.4(FANCA):c.1007-3C>T rs557382436 0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 0.00002
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) rs531100141 0.00002
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) rs764286584 0.00002
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe) rs982286482 0.00002
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val) rs748005916 0.00002
NM_000135.4(FANCA):c.1226-12G>C rs36011345 0.00002
NM_000135.4(FANCA):c.1231G>A (p.Val411Met) rs924067529 0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) rs780135578 0.00002
NM_000135.4(FANCA):c.1243A>G (p.Met415Val) rs1438001164 0.00002
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val) rs144234991 0.00002
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00002
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446 0.00002
NM_000135.4(FANCA):c.1566+6C>G rs886939126 0.00002
NM_000135.4(FANCA):c.1567-11C>A rs34353618 0.00002
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112 0.00002
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile) rs778754162 0.00002
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val) rs775255736 0.00002
NM_000135.4(FANCA):c.1781C>A (p.Pro594His) rs780295697 0.00002
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu) rs938278864 0.00002
NM_000135.4(FANCA):c.189+4A>G rs374822922 0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00002
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093 0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) rs371458363 0.00002
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met) rs775960094 0.00002
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr) rs539161141 0.00002
NM_000135.4(FANCA):c.2222+8C>T rs745775730 0.00002
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly) rs767455904 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser) rs1359572434 0.00002
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr) rs749268120 0.00002
NM_000135.4(FANCA):c.2505-5T>G rs768436599 0.00002
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro) rs1017352035 0.00002
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys) rs756314107 0.00002
NM_000135.4(FANCA):c.2622A>G (p.Arg874=) rs1441752228 0.00002
NM_000135.4(FANCA):c.2667C>T (p.Ala889=) rs771425634 0.00002
NM_000135.4(FANCA):c.2689C>G (p.His897Asp) rs766402927 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr) rs757996952 0.00002
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018 0.00002
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg) rs369565161 0.00002
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile) rs1178389035 0.00002
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883 0.00002
NM_000135.4(FANCA):c.2979A>G (p.Gln993=) rs761577170 0.00002
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser) rs773260958 0.00002
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg) rs766358053 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017 0.00002
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu) rs376089640 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) rs977982480 0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu) rs780078373 0.00002
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly) rs760330357 0.00002
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823 0.00002
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val) rs576401459 0.00002
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met) rs972127356 0.00002
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala) rs373998809 0.00002
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130 0.00002
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro) rs1219627612 0.00002
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu) rs143570168 0.00002
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00002
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val) rs766710139 0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) rs753944130 0.00002
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe) rs752245802 0.00002
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr) rs767206558 0.00002
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn) rs772122405 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000135.4(FANCA):c.596+4G>A rs780355864 0.00002
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn) rs779131886 0.00002
NM_000135.4(FANCA):c.620G>C (p.Gly207Ala) rs1432895332 0.00002
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108 0.00002
NM_000135.4(FANCA):c.88G>A (p.Val30Ile) rs1160471115 0.00002
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg) rs775212719 0.00002
NM_000136.3(FANCC):c.*1379C>G rs55901384 0.00002
NM_000136.3(FANCC):c.*577G>A rs1303539766 0.00002
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala) rs863224606 0.00002
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu) rs778968824 0.00002
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) rs1064793837 0.00002
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901 0.00002
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe) rs758866109 0.00002
NM_000136.3(FANCC):c.233C>A (p.Pro78His) rs138722298 0.00002
NM_000136.3(FANCC):c.349G>A (p.Val117Ile) rs781167993 0.00002
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly) rs555753798 0.00002
NM_000136.3(FANCC):c.457-7T>C rs749994612 0.00002
NM_000136.3(FANCC):c.473C>T (p.Ala158Val) rs776429990 0.00002
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) rs377620735 0.00002
NM_000136.3(FANCC):c.598G>C (p.Val200Leu) rs772996041 0.00002
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890 0.00002
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln) rs752339229 0.00002
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515 0.00002
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly) rs111657009 0.00002
NM_000136.3(FANCC):c.826A>G (p.Ile276Val) rs377085045 0.00002
NM_000141.4(FGFR2):c.*1539C>A rs1194799333 0.00002
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000192.3(TBX5):c.-403G>C rs985905532 0.00002
NM_000316.3(PTH1R):c.1198C>T (p.Arg400Trp) rs775797881 0.00002
NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) rs771579145 0.00002
NM_000346.4(SOX9):c.1510A>G (p.Thr504Ala) rs149888060 0.00002
NM_000346.4(SOX9):c.559G>C (p.Ala187Pro) rs771056492 0.00002
NM_000346.4(SOX9):c.965G>A (p.Ser322Asn) rs1239456905 0.00002
NM_000396.4(CTSK):c.375A>G (p.Gly125=) rs766065317 0.00002
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln) rs781168584 0.00002
NM_000478.6(ALPL):c.677T>C (p.Met226Thr) rs752641050 0.00002
NM_000493.4(COL10A1):c.*511T>C rs886060989 0.00002
NM_000493.4(COL10A1):c.1016C>T (p.Pro339Leu) rs373185008 0.00002
NM_000493.4(COL10A1):c.1420C>T (p.Pro474Ser) rs886060991 0.00002
NM_000493.4(COL10A1):c.323C>G (p.Pro108Arg) rs756683554 0.00002
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964 0.00002
NM_000942.4(PPIB):c.-139C>T rs886051329 0.00002
NM_000942.5(PPIB):c.284G>A (p.Arg95His) rs771584197 0.00002
NM_000942.5(PPIB):c.528+14G>A rs776724565 0.00002
NM_001011658.4(TRAPPC2):c.*332C>T rs1448063407 0.00002
NM_001011658.4(TRAPPC2):c.*703G>A rs554971161 0.00002
NM_001013693.3(LDLRAD2):c.*1003C>T rs543277819 0.00002
NM_001013693.3(LDLRAD2):c.*33G>A rs371757519 0.00002
NM_001015880.2(PAPSS2):c.1786C>T (p.Pro596Ser) rs373121598 0.00002
NM_001015880.2(PAPSS2):c.27+6C>T rs761222153 0.00002
NM_001015880.2(PAPSS2):c.301C>T (p.Arg101Cys) rs1354947408 0.00002
NM_001015880.2(PAPSS2):c.532A>C (p.Ile178Leu) rs374321628 0.00002
NM_001015880.2(PAPSS2):c.784G>A (p.Glu262Lys) rs776611898 0.00002
NM_001015880.2(PAPSS2):c.883G>A (p.Gly295Ser) rs544558219 0.00002
NM_001015880.2(PAPSS2):c.919G>A (p.Val307Ile) rs762088120 0.00002
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474 0.00002
NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys) rs145542355 0.00002
NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn) rs1296333300 0.00002
NM_001018113.3(FANCB):c.1327-11_1327-10insC rs1312589379 0.00002
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr) rs763091316 0.00002
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) rs943801800 0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala) rs781051710 0.00002
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His) rs1398803909 0.00002
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val) rs993692917 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val) rs768105189 0.00002
NM_001018115.3(FANCD2):c.1766+3A>G rs758140679 0.00002
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile) rs1221930544 0.00002
NM_001018115.3(FANCD2):c.2986A>G (p.Ser996Gly) rs745373058 0.00002
NM_001018115.3(FANCD2):c.3106T>A (p.Cys1036Ser) rs767901156 0.00002
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val) rs774299094 0.00002
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser) rs142238966 0.00002
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu) rs751027444 0.00002
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly) rs1371349116 0.00002
NM_001018115.3(FANCD2):c.3389G>A (p.Cys1130Tyr) rs750409411 0.00002
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly) rs369405673 0.00002
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val) rs752815037 0.00002
NM_001018115.3(FANCD2):c.3493C>T (p.Arg1165Trp) rs759348779 0.00002
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu) rs760823688 0.00002
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001018115.3(FANCD2):c.3692T>C (p.Phe1231Ser) rs762915519 0.00002
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864 0.00002
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val) rs587778333 0.00002
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser) rs781605384 0.00002
NM_001018115.3(FANCD2):c.3895C>T (p.Arg1299Cys) rs555348798 0.00002
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg) rs746501818 0.00002
NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln) rs1334082637 0.00002
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_001024630.4(RUNX2):c.*56A>G rs1014171607 0.00002
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter) rs531009160 0.00002
NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg) rs1257896833 0.00002
NM_001040167.2(LFNG):c.1022G>A (p.Arg341Gln) rs201290357 0.00002
NM_001040167.2(LFNG):c.506C>T (p.Ser169Leu) rs371707730 0.00002
NM_001040167.2(LFNG):c.521G>A (p.Arg174His) rs771675182 0.00002
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001104631.2(PDE4D):c.-55C>T rs886060716 0.00002
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=) rs538879121 0.00002
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) rs201871288 0.00002
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser) rs774909787 0.00002
NM_001113378.2(FANCI):c.1741G>A (p.Glu581Lys) rs768875486 0.00002
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) rs1262508273 0.00002
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser) rs369268726 0.00002
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile) rs200007022 0.00002
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) rs749295501 0.00002
NM_001113378.2(FANCI):c.1890+10A>G rs201954421 0.00002
NM_001113378.2(FANCI):c.197G>A (p.Arg66His) rs779515039 0.00002
NM_001113378.2(FANCI):c.2026G>T (p.Ala676Ser) rs756986642 0.00002
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser) rs774148630 0.00002
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) rs201796281 0.00002
NM_001113378.2(FANCI):c.2170-3T>C rs757908899 0.00002
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) rs752028405 0.00002
NM_001113378.2(FANCI):c.2336A>G (p.Lys779Arg) rs1323965441 0.00002
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824 0.00002
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) rs562503186 0.00002
NM_001113378.2(FANCI):c.3016A>G (p.Met1006Val) rs781108611 0.00002
NM_001113378.2(FANCI):c.3124C>G (p.Pro1042Ala) rs752438879 0.00002
NM_001113378.2(FANCI):c.3162C>T (p.His1054=) rs746204528 0.00002
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val) rs142756279 0.00002
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met) rs922792253 0.00002
NM_001113378.2(FANCI):c.3816+6C>T rs989969696 0.00002
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys) rs751222800 0.00002
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe) rs1435589915 0.00002
NM_001113378.2(FANCI):c.875A>G (p.His292Arg) rs764641724 0.00002
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) rs769485443 0.00002
NM_001114636.1(FANCL):c.-13C>T rs757714548 0.00002
NM_001127671.2(LIFR):c.*1051C>T rs189674684 0.00002
NM_001127671.2(LIFR):c.*1468T>G rs886060620 0.00002
NM_001127671.2(LIFR):c.*4020T>G rs968785250 0.00002
NM_001127671.2(LIFR):c.*4735C>A rs201856141 0.00002
NM_001127671.2(LIFR):c.*5667T>C rs886060607 0.00002
NM_001127671.2(LIFR):c.*6041_*6042insTTA rs542021288 0.00002
NM_001127671.2(LIFR):c.*648C>G rs886060624 0.00002
NM_001127671.2(LIFR):c.*966T>G rs886060623 0.00002
NM_001127671.2(LIFR):c.1424C>T (p.Ser475Leu) rs763060076 0.00002
NM_001127671.2(LIFR):c.16G>A (p.Val6Ile) rs373771721 0.00002
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) rs754527323 0.00002
NM_001127671.2(LIFR):c.2692T>C (p.Leu898=) rs890810298 0.00002
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) rs770022153 0.00002
NM_001127671.2(LIFR):c.3279C>T (p.Asn1093=) rs754371834 0.00002
NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp) rs149930229 0.00002
NM_001128225.3(SLC39A13):c.191G>A (p.Arg64Gln) rs368519440 0.00002
NM_001128225.3(SLC39A13):c.286A>G (p.Met96Val) rs895559794 0.00002
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069 0.00002
NM_001128225.3(SLC39A13):c.38G>T (p.Gly13Val) rs148165667 0.00002
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp) rs750069673 0.00002
NM_001130144.3(LTBP3):c.1090G>A (p.Val364Met) rs769391647 0.00002
NM_001130144.3(LTBP3):c.1315C>T (p.Arg439Trp) rs753093986 0.00002
NM_001130144.3(LTBP3):c.1634G>A (p.Arg545His) rs986091498 0.00002
NM_001130144.3(LTBP3):c.2416T>A (p.Ser806Thr) rs974030785 0.00002
NM_001130144.3(LTBP3):c.241C>T (p.Arg81Trp) rs371878166 0.00002
NM_001130144.3(LTBP3):c.2983G>A (p.Asp995Asn) rs748867386 0.00002
NM_001130144.3(LTBP3):c.3068A>G (p.Gln1023Arg) rs556358354 0.00002
NM_001130144.3(LTBP3):c.440C>T (p.Ala147Val) rs370789621 0.00002
NM_001130144.3(LTBP3):c.918C>A (p.Ser306Arg) rs771290855 0.00002
NM_001130144.3(LTBP3):c.939G>C (p.Gln313His) rs761852134 0.00002
NM_001174147.2(LMX1B):c.*1189C>T rs918993617 0.00002
NM_001174147.2(LMX1B):c.*232C>T rs551852198 0.00002
NM_001174147.2(LMX1B):c.*2737C>T rs767564570 0.00002
NM_001174147.2(LMX1B):c.*317G>A rs1298736368 0.00002
NM_001174147.2(LMX1B):c.*3522G>A rs886063442 0.00002
NM_001174147.2(LMX1B):c.*4128G>A rs886063447 0.00002
NM_001174147.2(LMX1B):c.*553C>T rs1279736588 0.00002
NM_001174147.2(LMX1B):c.*635A>G rs1443082300 0.00002
NM_001174147.2(LMX1B):c.*999C>G rs919370292 0.00002
NM_001174147.2(LMX1B):c.1151G>A (p.Arg384His) rs143906016 0.00002
NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys) rs199738980 0.00002
NM_001174147.2(LMX1B):c.57G>A (p.Thr19=) rs376265443 0.00002
NM_001174147.2(LMX1B):c.742-15C>G rs566334716 0.00002
NM_001203.3(BMPR1B):c.734C>A (p.Thr245Lys) rs751532146 0.00002
NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val) rs755942515 0.00002
NM_001203.3(BMPR1B):c.907A>C (p.Lys303Gln) rs370428276 0.00002
NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe) rs1064796651 0.00002
NM_001271938.2(MEGF8):c.1315C>T (p.Arg439Trp) rs769862975 0.00002
NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu) rs993849381 0.00002
NM_001271938.2(MEGF8):c.3311G>A (p.Arg1104Gln) rs1460568797 0.00002
NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys) rs760894078 0.00002
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys) rs747096596 0.00002
NM_001271938.2(MEGF8):c.5752A>G (p.Met1918Val) rs768713408 0.00002
NM_001271938.2(MEGF8):c.5809C>T (p.Arg1937Cys) rs777955709 0.00002
NM_001271938.2(MEGF8):c.5868G>T (p.Trp1956Cys) rs1205847294 0.00002
NM_001271938.2(MEGF8):c.7033A>G (p.Ser2345Gly) rs1016429941 0.00002
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met) rs758007485 0.00002
NM_001271938.2(MEGF8):c.739+3G>A rs772336647 0.00002
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln) rs754329335 0.00002
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln) rs764185083 0.00002
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp) rs768902189 0.00002
NM_001278689.2(EOGT):c.1387G>A (p.Val463Ile) rs764559304 0.00002
NM_001278689.2(EOGT):c.1411C>T (p.Gln471Ter) rs777402465 0.00002
NM_001278689.2(EOGT):c.334G>A (p.Glu112Lys) rs200038187 0.00002
NM_001278689.2(EOGT):c.587C>T (p.Ser196Phe) rs778686242 0.00002
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) rs542660333 0.00002
NM_001353214.3(DYM):c.-222G>A rs374894787 0.00002
NM_001353214.3(DYM):c.-294C>T rs369624199 0.00002
NM_001369268.1(ACAN):c.6113C>T (p.Thr2038Ile) rs149083251 0.00002
NM_001374353.1(GLI2):c.176A>G (p.His59Arg) rs777912029 0.00002
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277 0.00002
NM_001374353.1(GLI2):c.1906-4G>A rs373446304 0.00002
NM_001374353.1(GLI2):c.2005A>T (p.Thr669Ser) rs750174908 0.00002
NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro) rs781438228 0.00002
NM_001374353.1(GLI2):c.451G>A (p.Ala151Thr) rs781771721 0.00002
NM_001374353.1(GLI2):c.4610C>T (p.Pro1537Leu) rs767802807 0.00002
NM_001374353.1(GLI2):c.515C>A (p.Thr172Asn) rs200720726 0.00002
NM_001374353.1(GLI2):c.58C>G (p.Leu20Val) rs754532059 0.00002
NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys) rs764904063 0.00002
NM_001384732.1(CPLANE1):c.1348T>G (p.Tyr450Asp) rs1204605921 0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln) rs535811932 0.00002
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg) rs761691903 0.00002
NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met) rs141126113 0.00002
NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp) rs371324866 0.00002
NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile) rs750897841 0.00002
NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu) rs779569678 0.00002
NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg) rs922260468 0.00002
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly) rs953624404 0.00002
NM_001384732.1(CPLANE1):c.8828C>T (p.Thr2943Ile) rs778535345 0.00002
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys) rs374005945 0.00002
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val) rs886060572 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077 0.00002
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) rs200947960 0.00002
NM_001711.6(BGN):c.17G>A (p.Arg6His) rs781931209 0.00002
NM_001793.5(CDH3):c.-302C>T rs145687049 0.00002
NM_001793.6(CDH3):c.*2C>T rs777390548 0.00002
NM_001793.6(CDH3):c.*529G>A rs886052235 0.00002
NM_001793.6(CDH3):c.*535G>A rs955104733 0.00002
NM_001793.6(CDH3):c.1571-7C>G rs373529822 0.00002
NM_001793.6(CDH3):c.166A>G (p.Met56Val) rs886052228 0.00002
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg) rs886052230 0.00002
NM_001793.6(CDH3):c.854G>T (p.Gly285Val) rs753255861 0.00002
NM_001844.5(COL2A1):c.*331G>A rs1227723645 0.00002
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu) rs757218488 0.00002
NM_001852.4(COL9A2):c.472-10C>A rs372390684 0.00002
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys) rs778892188 0.00002
NM_001854.4(COL11A1):c.*184A>G rs1400606980 0.00002
NM_001854.4(COL11A1):c.1845+11T>G rs201513205 0.00002
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=) rs3753842 0.00002
NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp) rs370598483 0.00002
NM_002010.3(FGF9):c.*1186A>G rs1000898581 0.00002
NM_002010.3(FGF9):c.*1225T>C rs537888875 0.00002
NM_002010.3(FGF9):c.*2114C>T rs892010832 0.00002
NM_002010.3(FGF9):c.*702G>A rs983063697 0.00002
NM_002310.6(LIFR):c.-28G>A rs886060632 0.00002
NM_002335.4(LRP5):c.1076C>T (p.Thr359Met) rs746292760 0.00002
NM_002335.4(LRP5):c.148G>A (p.Gly50Arg) rs558895370 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu) rs532035027 0.00002
NM_002335.4(LRP5):c.2134G>A (p.Val712Met) rs765239493 0.00002
NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys) rs775431782 0.00002
NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys) rs760734426 0.00002
NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser) rs776554205 0.00002
NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys) rs768840999 0.00002
NM_002335.4(LRP5):c.3427+12G>A rs756103866 0.00002
NM_002335.4(LRP5):c.3427+7G>A rs756825499 0.00002
NM_002335.4(LRP5):c.3637+4C>T rs746451473 0.00002
NM_002335.4(LRP5):c.3656G>A (p.Arg1219His) rs143924910 0.00002
NM_002335.4(LRP5):c.3679A>G (p.Ile1227Val) rs949211640 0.00002
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr) rs746686714 0.00002
NM_002335.4(LRP5):c.4139G>T (p.Ser1380Ile) rs1300430679 0.00002
NM_002335.4(LRP5):c.4432G>A (p.Val1478Ile) rs758606794 0.00002
NM_002381.5(MATN3):c.284G>A (p.Arg95Gln) rs755692495 0.00002
NM_002381.5(MATN3):c.304G>T (p.Val102Leu) rs199824694 0.00002
NM_002427.4(MMP13):c.138C>T (p.Tyr46=) rs200537937 0.00002
NM_002427.4(MMP13):c.818C>G (p.Pro273Arg) rs781841656 0.00002
NM_002449.5(MSX2):c.*126T>C rs1242791605 0.00002
NM_002615.7(SERPINF1):c.*39C>T rs577188765 0.00002
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp) rs370418830 0.00002
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808 0.00002
NM_003036.4(SKI):c.1118G>A (p.Arg373His) rs768924434 0.00002
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911 0.00002
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu) rs752779978 0.00002
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe) rs1464178129 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969 0.00002
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys) rs377517039 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.892G>T (p.Ala298Ser) rs769113221 0.00002
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615 0.00002
NM_003394.4(WNT10B):c.995G>A (p.Arg332Gln) rs768477854 0.00002
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) rs778840618 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val) rs770614769 0.00002
NM_003722.5(TP63):c.*1377C>T rs764599956 0.00002
NM_003722.5(TP63):c.*1748A>G rs1037267655 0.00002
NM_003722.5(TP63):c.*221G>A rs886058224 0.00002
NM_003722.5(TP63):c.*820C>T rs1000155602 0.00002
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) rs754361670 0.00002
NM_003722.5(TP63):c.1761G>A (p.Leu587=) rs573105911 0.00002
NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr) rs138315850 0.00002
NM_003995.4(NPR2):c.1711-9T>G rs777590147 0.00002
NM_003995.4(NPR2):c.2519+3G>A rs749445629 0.00002
NM_003995.4(NPR2):c.494G>A (p.Arg165His) rs781334893 0.00002
NM_003995.4(NPR2):c.649A>T (p.Ile217Phe) rs191155989 0.00002
NM_004239.4(TRIP11):c.*1521G>A rs187716047 0.00002
NM_004239.4(TRIP11):c.1039A>G (p.Met347Val) rs758182094 0.00002
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu) rs1178042413 0.00002
NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val) rs541713444 0.00002
NM_004239.4(TRIP11):c.4165G>A (p.Glu1389Lys) rs770551258 0.00002
NM_004239.4(TRIP11):c.4692G>C (p.Gln1564His) rs764446226 0.00002
NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys) rs763206653 0.00002
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) rs147932068 0.00002
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu) rs766363206 0.00002
NM_004239.4(TRIP11):c.657+9A>C rs182914589 0.00002
NM_004252.5(NHERF1):c.425A>G (p.Lys142Arg) rs1381259383 0.00002
NM_004260.4(RECQL4):c.1024T>C (p.Phe342Leu) rs772388357 0.00002
NM_004260.4(RECQL4):c.1048A>G (p.Arg350Gly) rs878854639 0.00002
NM_004260.4(RECQL4):c.1070A>G (p.Asn357Ser) rs771851520 0.00002
NM_004260.4(RECQL4):c.1073T>C (p.Met358Thr) rs376652305 0.00002
NM_004260.4(RECQL4):c.1124G>A (p.Arg375His) rs398124115 0.00002
NM_004260.4(RECQL4):c.1131+5G>A rs758482986 0.00002
NM_004260.4(RECQL4):c.1144A>G (p.Lys382Glu) rs758161368 0.00002
NM_004260.4(RECQL4):c.1146G>T (p.Lys382Asn) rs759321310 0.00002
NM_004260.4(RECQL4):c.134A>T (p.Tyr45Phe) rs748521485 0.00002
NM_004260.4(RECQL4):c.1369G>T (p.Gly457Trp) rs750720279 0.00002
NM_004260.4(RECQL4):c.1394C>T (p.Thr465Met) rs899474226 0.00002
NM_004260.4(RECQL4):c.1406T>C (p.Val469Ala) rs529104564 0.00002
NM_004260.4(RECQL4):c.1445G>A (p.Arg482His) rs751616549 0.00002
NM_004260.4(RECQL4):c.1456G>C (p.Glu486Gln) rs768311526 0.00002
NM_004260.4(RECQL4):c.1459C>T (p.Arg487Cys) rs762386238 0.00002
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1471C>T (p.Arg491Trp) rs746417965 0.00002
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889 0.00002
NM_004260.4(RECQL4):c.1483+3G>A rs771224692 0.00002
NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met) rs1358382637 0.00002
NM_004260.4(RECQL4):c.1493C>T (p.Thr498Met) rs376587038 0.00002
NM_004260.4(RECQL4):c.149G>A (p.Arg50His) rs551963857 0.00002
NM_004260.4(RECQL4):c.1519G>A (p.Gly507Ser) rs587778655 0.00002
NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu) rs377298374 0.00002
NM_004260.4(RECQL4):c.1659A>G (p.Ile553Met) rs1034720495 0.00002
NM_004260.4(RECQL4):c.166G>A (p.Gly56Ser) rs777837612 0.00002
NM_004260.4(RECQL4):c.1726G>A (p.Val576Met) rs570331496 0.00002
NM_004260.4(RECQL4):c.1735C>G (p.Leu579Val) rs552226907 0.00002
NM_004260.4(RECQL4):c.1780G>A (p.Ala594Thr) rs376364416 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.1914G>A (p.Leu638=) rs754026048 0.00002
NM_004260.4(RECQL4):c.1930G>A (p.Ala644Thr) rs774323224 0.00002
NM_004260.4(RECQL4):c.1936C>T (p.Arg646Cys) rs398124116 0.00002
NM_004260.4(RECQL4):c.1969G>A (p.Ala657Thr) rs993147176 0.00002
NM_004260.4(RECQL4):c.1972G>A (p.Val658Met) rs373608888 0.00002
NM_004260.4(RECQL4):c.1996G>A (p.Gly666Arg) rs776218553 0.00002
NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr) rs372717152 0.00002
NM_004260.4(RECQL4):c.2080G>C (p.Gly694Arg) rs750118023 0.00002
NM_004260.4(RECQL4):c.2087G>A (p.Arg696His) rs1026729951 0.00002
NM_004260.4(RECQL4):c.2128C>T (p.Arg710Cys) rs750126506 0.00002
NM_004260.4(RECQL4):c.2162G>A (p.Arg721Gln) rs558451720 0.00002
NM_004260.4(RECQL4):c.2174A>T (p.His725Leu) rs755481980 0.00002
NM_004260.4(RECQL4):c.2200+3G>A rs1436956816 0.00002
NM_004260.4(RECQL4):c.2207C>G (p.Ala736Gly) rs771790911 0.00002
NM_004260.4(RECQL4):c.221A>G (p.Glu74Gly) rs759778382 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2350C>T (p.Arg784Trp) rs753386714 0.00002
NM_004260.4(RECQL4):c.2404G>A (p.Val802Met) rs897118164 0.00002
NM_004260.4(RECQL4):c.2411G>A (p.Arg804Gln) rs1060501375 0.00002
NM_004260.4(RECQL4):c.2416G>A (p.Gly806Arg) rs767102398 0.00002
NM_004260.4(RECQL4):c.2463+3T>C rs538535710 0.00002
NM_004260.4(RECQL4):c.2463+4G>A rs1449275619 0.00002
NM_004260.4(RECQL4):c.2470G>C (p.Asp824His) rs901313954 0.00002
NM_004260.4(RECQL4):c.2491C>T (p.His831Tyr) rs370432468 0.00002
NM_004260.4(RECQL4):c.251G>C (p.Arg84Pro) rs745596664 0.00002
NM_004260.4(RECQL4):c.2522C>T (p.Ala841Val) rs768110067 0.00002
NM_004260.4(RECQL4):c.2542C>T (p.Arg848Cys) rs757540549 0.00002
NM_004260.4(RECQL4):c.2558G>A (p.Cys853Tyr) rs998405899 0.00002
NM_004260.4(RECQL4):c.2665G>A (p.Ala889Thr) rs754977025 0.00002
NM_004260.4(RECQL4):c.2691C>T (p.Cys897=) rs1383283920 0.00002
NM_004260.4(RECQL4):c.2693T>C (p.Met898Thr) rs771630323 0.00002
NM_004260.4(RECQL4):c.2694G>C (p.Met898Ile) rs1382869672 0.00002
NM_004260.4(RECQL4):c.2735C>T (p.Ala912Val) rs752408076 0.00002
NM_004260.4(RECQL4):c.2749G>A (p.Glu917Lys) rs377343487 0.00002
NM_004260.4(RECQL4):c.2791C>T (p.Pro931Ser) rs768352855 0.00002
NM_004260.4(RECQL4):c.280C>T (p.Pro94Ser) rs1359100897 0.00002
NM_004260.4(RECQL4):c.2822C>G (p.Thr941Ser) rs1060501368 0.00002
NM_004260.4(RECQL4):c.2831A>G (p.His944Arg) rs759772792 0.00002
NM_004260.4(RECQL4):c.2849C>G (p.Pro950Arg) rs769664095 0.00002
NM_004260.4(RECQL4):c.2873C>T (p.Ala958Val) rs758952928 0.00002
NM_004260.4(RECQL4):c.2928G>C (p.Glu976Asp) rs1391709653 0.00002
NM_004260.4(RECQL4):c.2941G>A (p.Gly981Ser) rs757541591 0.00002
NM_004260.4(RECQL4):c.2966T>G (p.Met989Arg) rs767220757 0.00002
NM_004260.4(RECQL4):c.2973G>C (p.Lys991Asn) rs763547531 0.00002
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723 0.00002
NM_004260.4(RECQL4):c.29G>A (p.Arg10Gln) rs1001894022 0.00002
NM_004260.4(RECQL4):c.2T>G (p.Met1Arg) rs1815451689 0.00002
NM_004260.4(RECQL4):c.3043G>A (p.Glu1015Lys) rs771381171 0.00002
NM_004260.4(RECQL4):c.311A>C (p.Asp104Ala) rs754123663 0.00002
NM_004260.4(RECQL4):c.3145G>A (p.Asp1049Asn) rs1176326208 0.00002
NM_004260.4(RECQL4):c.3268G>A (p.Glu1090Lys) rs756401653 0.00002
NM_004260.4(RECQL4):c.3271C>A (p.Gln1091Lys) rs137853230 0.00002
NM_004260.4(RECQL4):c.3290G>A (p.Ser1097Asn) rs1400903506 0.00002
NM_004260.4(RECQL4):c.3342G>C (p.Gln1114His) rs990831417 0.00002
NM_004260.4(RECQL4):c.335A>G (p.Asn112Ser) rs372651895 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004260.4(RECQL4):c.3484C>T (p.Arg1162Cys) rs773088003 0.00002
NM_004260.4(RECQL4):c.3529T>A (p.Tyr1177Asn) rs758188100 0.00002
NM_004260.4(RECQL4):c.3613C>T (p.Gln1205Ter) rs748047415 0.00002
NM_004260.4(RECQL4):c.482A>G (p.Gln161Arg) rs1449551392 0.00002
NM_004260.4(RECQL4):c.508G>T (p.Gly170Cys) rs774750928 0.00002
NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln) rs753361853 0.00002
NM_004260.4(RECQL4):c.554C>T (p.Ser185Phe) rs751922746 0.00002
NM_004260.4(RECQL4):c.559G>A (p.Asp187Asn) rs775849340 0.00002
NM_004260.4(RECQL4):c.56G>A (p.Arg19Gln) rs1231840928 0.00002
NM_004260.4(RECQL4):c.608G>A (p.Gly203Glu) rs776532961 0.00002
NM_004260.4(RECQL4):c.785G>A (p.Arg262Gln) rs781569277 0.00002
NM_004260.4(RECQL4):c.836G>A (p.Ser279Asn) rs780327528 0.00002
NM_004260.4(RECQL4):c.857C>T (p.Ser286Leu) rs757320755 0.00002
NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser) rs892796827 0.00002
NM_004260.4(RECQL4):c.896C>T (p.Pro299Leu) rs1421975384 0.00002
NM_004260.4(RECQL4):c.919C>T (p.Pro307Ser) rs1338979565 0.00002
NM_004260.4(RECQL4):c.938G>C (p.Ser313Thr) rs762426271 0.00002
NM_004273.5(CHST3):c.*1053A>T rs886047166 0.00002
NM_004273.5(CHST3):c.*2845G>C rs932565615 0.00002
NM_004273.5(CHST3):c.*4210T>C rs559945769 0.00002
NM_004273.5(CHST3):c.1076C>T (p.Pro359Leu) rs1193910975 0.00002
NM_004273.5(CHST3):c.1166C>T (p.Ala389Val) rs766952355 0.00002
NM_004273.5(CHST3):c.1242C>G (p.Ile414Met) rs1004650270 0.00002
NM_004273.5(CHST3):c.133A>T (p.Ile45Leu) rs756821052 0.00002
NM_004273.5(CHST3):c.1414G>A (p.Glu472Lys) rs779698260 0.00002
NM_004273.5(CHST3):c.334G>A (p.Glu112Lys) rs751470049 0.00002
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=) rs753242611 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573 0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865 0.00002
NM_004629.2(FANCG):c.*141A>G rs1323568562 0.00002
NM_004629.2(FANCG):c.1155C>T (p.Pro385=) rs1217203217 0.00002
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg) rs759285011 0.00002
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu) rs757442131 0.00002
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala) rs750212705 0.00002
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly) rs200074432 0.00002
NM_004629.2(FANCG):c.635C>T (p.Ala212Val) rs375754266 0.00002
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn) rs745833004 0.00002
NM_004793.4(LONP1):c.2482C>T (p.His828Tyr) rs766992987 0.00002
NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly) rs777668213 0.00002
NM_004836.7(EIF2AK3):c.1332G>A (p.Leu444=) rs779731596 0.00002
NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly) rs750810139 0.00002
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) rs201662849 0.00002
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr) rs751296708 0.00002
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016 0.00002
NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile) rs765112357 0.00002
NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val) rs769083965 0.00002
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) rs753728949 0.00002
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met) rs761301503 0.00002
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr) rs779538282 0.00002
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala) rs773850619 0.00002
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) rs201501958 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys) rs746296279 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) rs202243691 0.00002
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078 0.00002
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) rs762828701 0.00002
NM_005445.4(SMC3):c.*327G>C rs1030439322 0.00002
NM_005445.4(SMC3):c.-65T>A rs886046692 0.00002
NM_005445.4(SMC3):c.2427+6T>C rs779451107 0.00002
NM_005445.4(SMC3):c.3106-18A>G rs372748192 0.00002
NM_005445.4(SMC3):c.369C>T (p.Asn123=) rs779773957 0.00002
NM_005529.7(HSPG2):c.10032C>T (p.Thr3344=) rs373818366 0.00002
NM_005529.7(HSPG2):c.10249G>A (p.Val3417Ile) rs369282867 0.00002
NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=) rs762130127 0.00002
NM_005529.7(HSPG2):c.10863G>A (p.Leu3621=) rs576324046 0.00002
NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=) rs367617288 0.00002
NM_005529.7(HSPG2):c.12751G>A (p.Gly4251Arg) rs1383334331 0.00002
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851 0.00002
NM_005529.7(HSPG2):c.4396-12C>A rs747704697 0.00002
NM_005529.7(HSPG2):c.5516T>C (p.Val1839Ala) rs751036475 0.00002
NM_005529.7(HSPG2):c.5599G>A (p.Val1867Met) rs1432356929 0.00002
NM_005529.7(HSPG2):c.5701+8C>T rs370899852 0.00002
NM_005529.7(HSPG2):c.5848G>A (p.Val1950Met) rs761763385 0.00002
NM_005529.7(HSPG2):c.64-12G>A rs777907037 0.00002
NM_005529.7(HSPG2):c.780A>T (p.Thr260=) rs767835991 0.00002
NM_005529.7(HSPG2):c.8397T>G (p.Ser2799=) rs186657949 0.00002
NM_005529.7(HSPG2):c.958+5G>A rs537939062 0.00002
NM_006031.6(PCNT):c.3312+14G>A rs371666981 0.00002
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) rs200606073 0.00002
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) rs61735807 0.00002
NM_006031.6(PCNT):c.4474C>T (p.Arg1492Cys) rs764560918 0.00002
NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg) rs768872502 0.00002
NM_006031.6(PCNT):c.545G>A (p.Arg182His) rs193268784 0.00002
NM_006031.6(PCNT):c.571A>C (p.Thr191Pro) rs150001244 0.00002
NM_006031.6(PCNT):c.6150+10G>C rs886057186 0.00002
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile) rs886057188 0.00002
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp) rs137977081 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670 0.00002
NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys) rs772107252 0.00002
NM_006031.6(PCNT):c.8810C>T (p.Thr2937Ile) rs372282731 0.00002
NM_006031.6(PCNT):c.8894C>T (p.Ala2965Val) rs200044004 0.00002
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln) rs747159043 0.00002
NM_006129.5(BMP1):c.*513A>G rs886062824 0.00002
NM_006129.5(BMP1):c.1250G>A (p.Arg417His) rs750136928 0.00002
NM_006129.5(BMP1):c.1522C>T (p.Arg508Cys) rs376781195 0.00002
NM_006129.5(BMP1):c.1684C>T (p.Arg562Trp) rs775940520 0.00002
NM_006129.5(BMP1):c.2751C>T (p.Cys917=) rs376975956 0.00002
NM_006129.5(BMP1):c.799G>A (p.Asp267Asn) rs764649614 0.00002
NM_006129.5(BMP1):c.928A>G (p.Ile310Val) rs570945262 0.00002
NM_006182.4(DDR2):c.2162A>G (p.Asn721Ser) rs531373389 0.00002
NM_006182.4(DDR2):c.383G>A (p.Arg128His) rs149507401 0.00002
NM_006265.3(RAD21):c.1364T>C (p.Val455Ala) rs373625369 0.00002
NM_006265.3(RAD21):c.1576G>C (p.Glu526Gln) rs373026310 0.00002
NM_006306.4(SMC1A):c.*1934T>C rs1311438037 0.00002
NM_006306.4(SMC1A):c.*3484G>A rs1215730078 0.00002
NM_006306.4(SMC1A):c.*4367T>C rs1003358509 0.00002
NM_006306.4(SMC1A):c.*5197T>C rs782050365 0.00002
NM_006306.4(SMC1A):c.-1C>T rs797044618 0.00002
NM_006306.4(SMC1A):c.-7G>A rs1368401429 0.00002
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu) rs376589639 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
NM_006371.5(CRTAP):c.*1193A>G rs1026331026 0.00002
NM_006371.5(CRTAP):c.*2242A>C rs886058362 0.00002
NM_006371.5(CRTAP):c.*2687C>T rs565676142 0.00002
NM_006371.5(CRTAP):c.*3061C>G rs371938944 0.00002
NM_006371.5(CRTAP):c.*348A>G rs886058349 0.00002
NM_006371.5(CRTAP):c.*4422C>G rs373275402 0.00002
NM_006371.5(CRTAP):c.*4940G>C rs1323498830 0.00002
NM_006371.5(CRTAP):c.*4950A>G rs780502214 0.00002
NM_006371.5(CRTAP):c.*5134T>C rs958340124 0.00002
NM_006371.5(CRTAP):c.1068+11T>C rs761750861 0.00002
NM_006371.5(CRTAP):c.1151A>G (p.Glu384Gly) rs754519818 0.00002
NM_006371.5(CRTAP):c.23C>T (p.Ala8Val) rs770294468 0.00002
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) rs540998437 0.00002
NM_006371.5(CRTAP):c.644G>A (p.Arg215Gln) rs572086683 0.00002
NM_006371.5(CRTAP):c.702C>T (p.Pro234=) rs371017739 0.00002
NM_006371.5(CRTAP):c.742G>A (p.Glu248Lys) rs765752550 0.00002
NM_006371.5(CRTAP):c.767T>G (p.Phe256Cys) rs139099707 0.00002
NM_006371.5(CRTAP):c.825A>G (p.Ile275Met) rs764370024 0.00002
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu) rs753010203 0.00002
NM_006494.4(ERF):c.208C>T (p.Arg70Cys) rs756869919 0.00002
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys) rs753014847 0.00002
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997 0.00002
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) rs397508902 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_012330.4(KAT6B):c.112A>G (p.Thr38Ala) rs774022852 0.00002
NM_012330.4(KAT6B):c.1235A>G (p.Lys412Arg) rs756609904 0.00002
NM_012330.4(KAT6B):c.1346G>A (p.Arg449His) rs768502700 0.00002
NM_012330.4(KAT6B):c.1504G>A (p.Gly502Ser) rs745726033 0.00002
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val) rs780418110 0.00002
NM_012330.4(KAT6B):c.281G>A (p.Gly94Glu) rs370028079 0.00002
NM_012330.4(KAT6B):c.3293A>G (p.Glu1098Gly) rs774138994 0.00002
NM_012330.4(KAT6B):c.4252C>T (p.Pro1418Ser) rs780199206 0.00002
NM_012330.4(KAT6B):c.4474C>G (p.Leu1492Val) rs1253925939 0.00002
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00002
NM_012330.4(KAT6B):c.5360C>T (p.Thr1787Met) rs765731378 0.00002
NM_012330.4(KAT6B):c.86A>T (p.Glu29Val) rs1167009272 0.00002
NM_012463.4(ATP6V0A2):c.*1680C>T rs886049067 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly) rs745997031 0.00002
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys) rs763864983 0.00002
NM_014140.4(SMARCAL1):c.1757G>A (p.Arg586Gln) rs766857853 0.00002
NM_014140.4(SMARCAL1):c.193G>A (p.Val65Met) rs759402336 0.00002
NM_014140.4(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466 0.00002
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp) rs189863563 0.00002
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn) rs528033845 0.00002
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) rs372298863 0.00002
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del) rs1315596315 0.00002
NM_014140.4(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564 0.00002
NM_014140.4(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404 0.00002
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) rs530505647 0.00002
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) rs375140716 0.00002
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val) rs751712707 0.00002
NM_014140.4(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325 0.00002
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met) rs558788774 0.00002
NM_014140.4(SMARCAL1):c.982C>T (p.Leu328Phe) rs909294272 0.00002
NM_014762.4(DHCR24):c.*172A>G rs886046420 0.00002
NM_014762.4(DHCR24):c.718C>T (p.Leu240=) rs191246223 0.00002
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=) rs750698768 0.00002
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr) rs765375312 0.00002
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00002
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu) rs1399269953 0.00002
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His) rs754607949 0.00002
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn) rs1190331074 0.00002
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) rs1290852650 0.00002
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val) rs759598264 0.00002
NM_015631.6(TCTN3):c.499+5G>T rs1242330719 0.00002
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser) rs541135431 0.00002
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys) rs1176554738 0.00002
NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys) rs200349793 0.00002
NM_015909.4(NBAS):c.5129C>T (p.Thr1710Met) rs369271997 0.00002
NM_016653.3(MAP3K20):c.748C>T (p.Arg250Trp) rs763481300 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg) rs776758626 0.00002
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp) rs771954465 0.00002
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met) rs750330670 0.00002
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324 0.00002
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 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.5023A>G (p.Ile1675Val) rs375408767 0.00002
NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys) rs1843029493 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.5471G>A (p.Arg1824Gln) rs765309913 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) rs774679591 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val) rs140758986 0.00002
NM_018062.4(FANCL):c.428C>T (p.Ala143Val) rs756000370 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 0.00002
NM_018062.4(FANCL):c.677G>A (p.Arg226His) rs745526326 0.00002
NM_018062.4(FANCL):c.810C>A (p.Asn270Lys) rs750050199 0.00002
NM_018062.4(FANCL):c.969G>A (p.Val323=) rs200819615 0.00002
NM_018112.3(TMEM38B):c.543-10T>G rs778527358 0.00002
NM_018475.5(TMEM165):c.*643A>G rs1043302976 0.00002
NM_018475.5(TMEM165):c.731C>T (p.Thr244Ile) rs371595670 0.00002
NM_018486.3(HDAC8):c.198G>T (p.Glu66Asp) rs373199509 0.00002
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) rs200093133 0.00002
NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter) rs748487774 0.00002
NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs) rs776934642 0.00002
NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu) rs766600615 0.00002
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His) rs755156050 0.00002
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) rs727504612 0.00002
NM_020779.4(WDR35):c.*297A>G rs886891593 0.00002
NM_020779.4(WDR35):c.*305T>C rs1404107870 0.00002
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_020779.4(WDR35):c.1798A>G (p.Met600Val) rs751974091 0.00002
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp) rs754056303 0.00002
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg) rs771708013 0.00002
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) rs886055405 0.00002
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys) rs369793891 0.00002
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr) rs1388421523 0.00002
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn) rs190070503 0.00002
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg) rs757871845 0.00002
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys) rs1228498799 0.00002
NM_020812.4(DOCK6):c.449C>T (p.Pro150Leu) rs781180338 0.00002
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro) rs1210888568 0.00002
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser) rs369752557 0.00002
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr) rs150185654 0.00002
NM_020937.4(FANCM):c.1131G>A (p.Met377Ile) rs760935075 0.00002
NM_020937.4(FANCM):c.1255A>G (p.Met419Val) rs552281088 0.00002
NM_020937.4(FANCM):c.1270C>T (p.Arg424Cys) rs537833024 0.00002
NM_020937.4(FANCM):c.1420C>T (p.Arg474Cys) rs999205481 0.00002
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu) rs1226481393 0.00002
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg) rs371569048 0.00002
NM_020937.4(FANCM):c.1702A>G (p.Ile568Val) rs558763945 0.00002
NM_020937.4(FANCM):c.1822A>G (p.Ile608Val) rs761833981 0.00002
NM_020937.4(FANCM):c.184T>C (p.Tyr62His) rs746609446 0.00002
NM_020937.4(FANCM):c.1892A>G (p.Asp631Gly) rs753713103 0.00002
NM_020937.4(FANCM):c.1915A>G (p.Lys639Glu) rs745669373 0.00002
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln) rs763495035 0.00002
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser) rs368303133 0.00002
NM_020937.4(FANCM):c.2306G>A (p.Arg769Lys) rs548624235 0.00002
NM_020937.4(FANCM):c.242C>T (p.Ala81Val) rs538464580 0.00002
NM_020937.4(FANCM):c.2543C>G (p.Thr848Ser) rs889187666 0.00002
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu) rs188528606 0.00002
NM_020937.4(FANCM):c.2596C>T (p.Leu866Phe) rs367576875 0.00002
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val) rs45568842 0.00002
NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser) rs750238406 0.00002
NM_020937.4(FANCM):c.2815G>A (p.Gly939Arg) rs1037864411 0.00002
NM_020937.4(FANCM):c.2878T>C (p.Phe960Leu) rs761671822 0.00002
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys) rs200017450 0.00002
NM_020937.4(FANCM):c.2903A>G (p.Tyr968Cys) rs752962214 0.00002
NM_020937.4(FANCM):c.2920G>A (p.Asp974Asn) rs753999208 0.00002
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile) rs772477865 0.00002
NM_020937.4(FANCM):c.3137A>G (p.Gln1046Arg) rs910679351 0.00002
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser) rs747787931 0.00002
NM_020937.4(FANCM):c.3347A>G (p.His1116Arg) rs778621580 0.00002
NM_020937.4(FANCM):c.3355G>C (p.Asp1119His) rs370618524 0.00002
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn) rs142077813 0.00002
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala) rs1227473930 0.00002
NM_020937.4(FANCM):c.3610C>T (p.Arg1204Cys) rs763796272 0.00002
NM_020937.4(FANCM):c.3869C>T (p.Thr1290Ile) rs759166551 0.00002
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro) rs200028975 0.00002
NM_020937.4(FANCM):c.4004A>C (p.Lys1335Thr) rs765026410 0.00002
NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln) rs1393856350 0.00002
NM_020937.4(FANCM):c.4292A>G (p.Lys1431Arg) rs752438783 0.00002
NM_020937.4(FANCM):c.4440A>G (p.Gln1480=) rs567425336 0.00002
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val) rs765860916 0.00002
NM_020937.4(FANCM):c.4622C>T (p.Ser1541Leu) rs776313378 0.00002
NM_020937.4(FANCM):c.4775C>T (p.Ser1592Leu) rs759778560 0.00002
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His) rs750818919 0.00002
NM_020937.4(FANCM):c.4949A>T (p.Lys1650Ile) rs140993629 0.00002
NM_020937.4(FANCM):c.497C>A (p.Ala166Asp) rs555879731 0.00002
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val) rs759068569 0.00002
NM_020937.4(FANCM):c.5174A>G (p.Asn1725Ser) rs765200148 0.00002
NM_020937.4(FANCM):c.5399C>A (p.Pro1800Gln) rs1449697144 0.00002
NM_020937.4(FANCM):c.5407G>A (p.Ala1803Thr) rs749034471 0.00002
NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala) rs369834971 0.00002
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val) rs763226965 0.00002
NM_020937.4(FANCM):c.5631G>C (p.Lys1877Asn) rs761269508 0.00002
NM_020937.4(FANCM):c.5668A>G (p.Met1890Val) rs1413874546 0.00002
NM_020937.4(FANCM):c.5708A>G (p.Glu1903Gly) rs569435551 0.00002
NM_020937.4(FANCM):c.5753A>G (p.Tyr1918Cys) rs746039296 0.00002
NM_020937.4(FANCM):c.5849T>C (p.Leu1950Ser) rs559661870 0.00002
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala) rs757062269 0.00002
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg) rs139736490 0.00002
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys) rs750156990 0.00002
NM_020937.4(FANCM):c.6099A>G (p.Gln2033=) rs757734261 0.00002
NM_020937.4(FANCM):c.637A>G (p.Ile213Val) rs754976437 0.00002
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) rs373268822 0.00002
NM_020937.4(FANCM):c.919-8A>G rs781119621 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.651G>A (p.Ala217=) rs371280831 0.00002
NM_021922.3(FANCE):c.*213T>A rs532782953 0.00002
NM_021922.3(FANCE):c.*322C>T rs559999264 0.00002
NM_021922.3(FANCE):c.1383+3G>A rs752468400 0.00002
NM_021922.3(FANCE):c.1489A>G (p.Met497Val) rs781338655 0.00002
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg) rs767509954 0.00002
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) rs551170184 0.00002
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) rs771767241 0.00002
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr) rs370661452 0.00002
NM_021922.3(FANCE):c.855+6T>G rs1185107943 0.00002
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile) rs1405929258 0.00002
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly) rs1475613789 0.00002
NM_021939.3(FKBP10):c.-303G>A rs886052922 0.00002
NM_021939.4(FKBP10):c.1323G>A (p.Thr441=) rs782332252 0.00002
NM_021939.4(FKBP10):c.1454G>A (p.Arg485Gln) rs144314381 0.00002
NM_021939.4(FKBP10):c.402T>G (p.Ile134Met) rs367689167 0.00002
NM_021939.4(FKBP10):c.408G>A (p.Pro136=) rs781784785 0.00002
NM_021939.4(FKBP10):c.587G>A (p.Ser196Asn) rs782660556 0.00002
NM_021939.4(FKBP10):c.792G>A (p.Pro264=) rs782789538 0.00002
NM_021939.4(FKBP10):c.984G>A (p.Gln328=) rs566306530 0.00002
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277 0.00002
NM_022166.4(XYLT1):c.1237G>A (p.Asp413Asn) rs774302454 0.00002
NM_022166.4(XYLT1):c.1259T>C (p.Ile420Thr) rs747349926 0.00002
NM_022166.4(XYLT1):c.1445G>A (p.Arg482Gln) rs571451998 0.00002
NM_022166.4(XYLT1):c.1627G>A (p.Asp543Asn) rs551025574 0.00002
NM_022166.4(XYLT1):c.1633A>G (p.Met545Val) rs747718750 0.00002
NM_022166.4(XYLT1):c.179C>T (p.Ala60Val) rs1294077633 0.00002
NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn) rs750411891 0.00002
NM_022166.4(XYLT1):c.2117A>G (p.Asn706Ser) rs779078093 0.00002
NM_022166.4(XYLT1):c.2378C>T (p.Ala793Val) rs369216955 0.00002
NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg) rs1321384222 0.00002
NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe) rs776112557 0.00002
NM_022166.4(XYLT1):c.389C>T (p.Thr130Ile) rs374229842 0.00002
NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr) rs760513040 0.00002
NM_022167.4(XYLT2):c.344C>T (p.Pro115Leu) rs748114111 0.00002
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu) rs367921237 0.00002
NM_022168.4(IFIH1):c.1382A>G (p.Tyr461Cys) rs746897113 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_022168.4(IFIH1):c.2027T>A (p.Leu676His) rs745474856 0.00002
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser) rs774309855 0.00002
NM_022168.4(IFIH1):c.2305-13A>G rs758206522 0.00002
NM_022168.4(IFIH1):c.2773A>G (p.Lys925Glu) rs1165752336 0.00002
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655 0.00002
NM_022168.4(IFIH1):c.413G>A (p.Cys138Tyr) rs774361518 0.00002
NM_022168.4(IFIH1):c.736G>T (p.Glu246Ter) rs373854773 0.00002
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp) rs146128481 0.00002
NM_022356.4(P3H1):c.1237A>G (p.Thr413Ala) rs755460349 0.00002
NM_022356.4(P3H1):c.1559A>G (p.Lys520Arg) rs752109889 0.00002
NM_022356.4(P3H1):c.1616A>G (p.Tyr539Cys) rs772654104 0.00002
NM_022356.4(P3H1):c.1944C>T (p.Ala648=) rs760909376 0.00002
NM_022356.4(P3H1):c.2053C>T (p.Arg685Trp) rs774693500 0.00002
NM_022356.4(P3H1):c.2128C>T (p.Pro710Ser) rs1486613257 0.00002
NM_022356.4(P3H1):c.2154C>T (p.Pro718=) rs775626323 0.00002
NM_022356.4(P3H1):c.326T>G (p.Phe109Cys) rs761389160 0.00002
NM_022356.4(P3H1):c.7G>A (p.Val3Ile) rs773870737 0.00002
NM_022356.4(P3H1):c.830A>G (p.Asn277Ser) rs200403014 0.00002
NM_022356.4(P3H1):c.953C>T (p.Thr318Ile) rs201020061 0.00002
NM_022725.4(FANCF):c.*555T>C rs1306529494 0.00002
NM_022725.4(FANCF):c.134A>G (p.His45Arg) rs767088554 0.00002
NM_022725.4(FANCF):c.268G>A (p.Asp90Asn) rs370200638 0.00002
NM_022725.4(FANCF):c.279C>T (p.Leu93=) rs199578614 0.00002
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala) rs1328802237 0.00002
NM_022725.4(FANCF):c.701G>A (p.Ser234Asn) rs373273222 0.00002
NM_022725.4(FANCF):c.772G>A (p.Gly258Arg) rs754977013 0.00002
NM_022725.4(FANCF):c.986T>C (p.Leu329Pro) rs766964364 0.00002
NM_023110.3(FGFR1):c.*913G>A rs886062912 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.193A>C (p.Asn65His) rs768919123 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser) rs1419947824 0.00002
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile) rs762665767 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 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.187C>T (p.Leu63Phe) rs730881899 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser) rs45464500 0.00002
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met) rs61756146 0.00002
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly) rs786203345 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_025132.4(WDR19):c.*296T>G rs542204770 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.13+14C>T rs758352852 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) rs761990492 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3483+11T>C rs766475725 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_025132.4(WDR19):c.822T>C (p.His274=) rs750215526 0.00002
NM_031296.3(RAB33B):c.*2359T>A rs562130360 0.00002
NM_032043.3(BRIP1):c.*1330C>T rs933049932 0.00002
NM_032043.3(BRIP1):c.*3000C>G rs1373033399 0.00002
NM_032043.3(BRIP1):c.*3307T>C rs886053199 0.00002
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225 0.00002
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser) rs780310294 0.00002
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg) rs1603367704 0.00002
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp) rs876660519 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe) rs768393936 0.00002
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp) rs745782331 0.00002
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg) rs1060501733 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys) rs587782808 0.00002
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu) rs575998972 0.00002
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983 0.00002
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg) rs772709195 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln) rs201790351 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr) rs968860042 0.00002
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala) rs779860140 0.00002
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser) rs777630298 0.00002
NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro) rs781140410 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.397A>T (p.Thr133Ser) rs764256720 0.00002
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927 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.661A>G (p.Thr221Ala) rs777618772 0.00002
NM_032043.3(BRIP1):c.662C>G (p.Thr221Ser) rs373774920 0.00002
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile) rs745955726 0.00002
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val) rs376893571 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.859G>A (p.Glu287Lys) rs1309409845 0.00002
NM_032444.4(SLX4):c.-305C>T rs886051983 0.00002
NM_032444.4(SLX4):c.-580T>C rs886051985 0.00002
NM_032444.4(SLX4):c.1150C>A (p.Pro384Thr) rs778504083 0.00002
NM_032444.4(SLX4):c.1163+5G>T rs762454252 0.00002
NM_032444.4(SLX4):c.1192C>T (p.Arg398Trp) rs138799572 0.00002
NM_032444.4(SLX4):c.1234A>G (p.Lys412Glu) rs774436086 0.00002
NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys) rs941244697 0.00002
NM_032444.4(SLX4):c.1335T>G (p.Ser445Arg) rs904007909 0.00002
NM_032444.4(SLX4):c.151T>C (p.Phe51Leu) rs769694224 0.00002
NM_032444.4(SLX4):c.1574G>A (p.Arg525His) rs756369289 0.00002
NM_032444.4(SLX4):c.166G>A (p.Ala56Thr) rs746769352 0.00002
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu) rs369805557 0.00002
NM_032444.4(SLX4):c.1994A>G (p.Asp665Gly) rs748574820 0.00002
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu) rs749399683 0.00002
NM_032444.4(SLX4):c.2157G>T (p.Gln719His) rs768316000 0.00002
NM_032444.4(SLX4):c.217G>C (p.Glu73Gln) rs139829211 0.00002
NM_032444.4(SLX4):c.2246G>A (p.Arg749His) rs140109914 0.00002
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro) rs762300440 0.00002
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu) rs573280243 0.00002
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val) rs781462011 0.00002
NM_032444.4(SLX4):c.2950G>A (p.Glu984Lys) rs750906921 0.00002
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg) rs776060270 0.00002
NM_032444.4(SLX4):c.3137G>A (p.Arg1046His) rs1008752654 0.00002
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met) rs773890423 0.00002
NM_032444.4(SLX4):c.3316G>A (p.Val1106Met) rs200057338 0.00002
NM_032444.4(SLX4):c.3583A>G (p.Ile1195Val) rs370761463 0.00002
NM_032444.4(SLX4):c.3677G>A (p.Arg1226Gln) rs748607152 0.00002
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met) rs754761366 0.00002
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr) rs763524714 0.00002
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu) rs778781581 0.00002
NM_032444.4(SLX4):c.3977C>T (p.Thr1326Ile) rs371394594 0.00002
NM_032444.4(SLX4):c.3982G>A (p.Val1328Ile) rs1394177026 0.00002
NM_032444.4(SLX4):c.401C>T (p.Ala134Val) rs759574554 0.00002
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215 0.00002
NM_032444.4(SLX4):c.4069C>A (p.Leu1357Met) rs775694333 0.00002
NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly) rs767790750 0.00002
NM_032444.4(SLX4):c.4155C>G (p.Asn1385Lys) rs1308197455 0.00002
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) rs372321470 0.00002
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val) rs777033175 0.00002
NM_032444.4(SLX4):c.4685C>T (p.Pro1562Leu) rs1423103812 0.00002
NM_032444.4(SLX4):c.4715C>T (p.Pro1572Leu) rs182432298 0.00002
NM_032444.4(SLX4):c.4739+7G>A rs748897456 0.00002
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=) rs370775954 0.00002
NM_032444.4(SLX4):c.4870C>G (p.Pro1624Ala) rs759305861 0.00002
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272 0.00002
NM_032444.4(SLX4):c.5093C>A (p.Ala1698Asp) rs967813945 0.00002
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter) rs776789371 0.00002
NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys) rs371390105 0.00002
NM_032444.4(SLX4):c.700G>A (p.Glu234Lys) rs149779179 0.00002
NM_032444.4(SLX4):c.760+4T>C rs552926547 0.00002
NM_032444.4(SLX4):c.796G>A (p.Ala266Thr) rs543071212 0.00002
NM_032444.4(SLX4):c.802G>A (p.Val268Met) rs1060501798 0.00002
NM_032444.4(SLX4):c.853G>A (p.Asp285Asn) rs749002564 0.00002
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln) rs571996250 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.2302G>A (p.Val768Met) rs561825107 0.00002
NM_052989.3(IFT122):c.2393G>A (p.Arg798His) rs755677495 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.3047G>A (p.Arg1016Gln) rs758998922 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3154-9G>A rs759975764 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=) rs775568842 0.00002
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly) rs1048830398 0.00002
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) rs1064794186 0.00002
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys) rs773998134 0.00002
NM_058216.3(RAD51C):c.1117G>A (p.Glu373Lys) rs1433497291 0.00002
NM_058216.3(RAD51C):c.354G>C (p.Met118Ile) rs768238518 0.00002
NM_058216.3(RAD51C):c.397C>G (p.Gln133Glu) rs387907159 0.00002
NM_058216.3(RAD51C):c.451G>A (p.Val151Met) rs753912045 0.00002
NM_058216.3(RAD51C):c.481G>C (p.Glu161Gln) rs768903850 0.00002
NM_058216.3(RAD51C):c.537C>A (p.His179Gln) rs372385738 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr) rs748043225 0.00002
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp) rs374196453 0.00002
NM_058216.3(RAD51C):c.904+17A>G rs760664998 0.00002
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly) rs786203498 0.00002
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) rs1490617023 0.00002
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) rs1039242906 0.00002
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) rs762606889 0.00002
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln) rs750182732 0.00002
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) rs886138913 0.00002
NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys) rs771306094 0.00002
NM_080680.3(COL11A2):c.-82C>G rs539232957 0.00002
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn) rs751888761 0.00002
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val) rs141010980 0.00002
NM_133433.4(NIPBL):c.1234C>T (p.Arg412Cys) rs571300383 0.00002
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly) rs780665254 0.00002
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr) rs747918239 0.00002
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val) rs1223302517 0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) rs587783983 0.00002
NM_133433.4(NIPBL):c.611-10T>C rs368836554 0.00002
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala) rs764147606 0.00002
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile) rs769447796 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln) rs770644264 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile) rs751725959 0.00002
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser) rs753207027 0.00002
NM_147127.5(EVC2):c.869C>T (p.Thr290Met) rs149414427 0.00002
NM_152281.3(GORAB):c.*1160G>A rs550890680 0.00002
NM_152281.3(GORAB):c.*598A>G rs886045555 0.00002
NM_152281.3(GORAB):c.*803T>C rs753455699 0.00002
NM_152281.3(GORAB):c.*818A>G rs886045558 0.00002
NM_152281.3(GORAB):c.276C>T (p.Thr92=) rs370271267 0.00002
NM_152281.3(GORAB):c.388G>A (p.Asp130Asn) rs750567904 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.1776+5G>A rs968001713 0.00002
NM_153717.3(EVC):c.187C>G (p.Gln63Glu) rs371329240 0.00002
NM_153717.3(EVC):c.188A>G (p.Gln63Arg) rs772017175 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2554C>G (p.His852Asp) rs574669392 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_181486.4(TBX5):c.*1111T>C rs886048985 0.00002
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=) rs555534138 0.00002
NM_198239.2(CCN6):c.48+13C>T rs375836805 0.00002
NM_203486.3(DLL3):c.1187C>T (p.Ala396Val) rs747708804 0.00002
NM_203486.3(DLL3):c.1455C>T (p.Pro485=) rs759560622 0.00002
NM_203486.3(DLL3):c.1474C>G (p.Leu492Val) rs767423604 0.00002
NM_203486.3(DLL3):c.902C>T (p.Pro301Leu) rs781626135 0.00002
NM_213599.3(ANO5):c.1211G>A (p.Arg404Gln) rs375834855 0.00002
NM_213599.3(ANO5):c.138+6C>G rs1342335241 0.00002
NM_213599.3(ANO5):c.142G>A (p.Ala48Thr) rs1156394263 0.00002
NM_213599.3(ANO5):c.170G>A (p.Arg57Gln) rs781702630 0.00002
NM_213599.3(ANO5):c.1904C>T (p.Ala635Val) rs540339861 0.00002
NM_213599.3(ANO5):c.1915T>C (p.Trp639Arg) rs973595720 0.00002
NM_213599.3(ANO5):c.1921C>T (p.Arg641Cys) rs372674175 0.00002
NM_213599.3(ANO5):c.2030-3C>A rs752534913 0.00002
NM_213599.3(ANO5):c.2414+3G>A rs199548403 0.00002
NM_213599.3(ANO5):c.2417A>G (p.Tyr806Cys) rs755040619 0.00002
NM_213599.3(ANO5):c.2438C>A (p.Pro813His) rs547523498 0.00002
NM_213599.3(ANO5):c.2503T>G (p.Phe835Val) rs374725506 0.00002
NM_213599.3(ANO5):c.2578G>C (p.Asp860His) rs145362994 0.00002
NM_213599.3(ANO5):c.2623A>C (p.Ile875Leu) rs1131691364 0.00002
NM_213599.3(ANO5):c.2711A>T (p.Asn904Ile) rs772279212 0.00002
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser) rs1010958758 0.00002
NM_213599.3(ANO5):c.746C>T (p.Ala249Val) rs1278466363 0.00002
NM_213599.3(ANO5):c.845A>G (p.Tyr282Cys) rs561417561 0.00002
NR_003051.4(RMRP):n.110A>G rs567665484 0.00002
NR_003051.4(RMRP):n.122A>G rs557578605 0.00002
NR_003051.4(RMRP):n.163C>T rs370797103 0.00002
NR_003051.4(RMRP):n.174C>T rs565056797 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NR_003051.4(RMRP):n.18C>T rs769169620 0.00002
NR_003051.4(RMRP):n.203C>T rs183570217 0.00002
NR_003051.4(RMRP):n.215C>T rs772665785 0.00002
NR_003051.4(RMRP):n.263C>T rs533294975 0.00002
NR_003051.4(RMRP):n.265G>A rs578123788 0.00002
NR_003051.4(RMRP):n.39G>A rs1396054526 0.00002
NR_003051.4(RMRP):n.60T>C rs1040824418 0.00002
NC_000009.12:g.35657674T>G rs1244474890 0.00001
NC_000009.12:g.35658118T>C rs1234835649 0.00001
NM_000059.4(BRCA2):c.*271C>A rs868342410 0.00001
NM_000059.4(BRCA2):c.*50A>G rs761312704 0.00001
NM_000059.4(BRCA2):c.-40+7G>T rs1555279969 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 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.3495T>C (p.His1165=) rs776655838 0.00001
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679 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.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr) rs377639990 0.00001
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln) rs41293467 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.5434G>A (p.Glu1812Lys) rs80358767 0.00001
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val) rs397507360 0.00001
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739 0.00001
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn) rs398122547 0.00001
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys) rs397507838 0.00001
NM_000059.4(BRCA2):c.628A>G (p.Ile210Val) rs1555281106 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile) rs786203098 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895 0.00001
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=) rs764698623 0.00001
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg) rs587782519 0.00001
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) rs80359097 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568 0.00001
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365 0.00001
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289 0.00001
NM_000059.4(BRCA2):c.963A>G (p.Gln321=) rs276174927 0.00001
NM_000088.4(COL1A1):c.*194G>A rs886053158 0.00001
NM_000088.4(COL1A1):c.*837G>A rs564977858 0.00001
NM_000088.4(COL1A1):c.-115G>A rs886053164 0.00001
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1056+3G>A rs367802613 0.00001
NM_000088.4(COL1A1):c.1153G>A (p.Ala385Thr) rs548048698 0.00001
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1540C>T (p.Pro514Ser) rs753739947 0.00001
NM_000088.4(COL1A1):c.164C>A (p.Pro55His) rs771489142 0.00001
NM_000088.4(COL1A1):c.1669-10C>A rs886053162 0.00001
NM_000088.4(COL1A1):c.1763C>A (p.Ala588Asp) rs771593907 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.1876-3C>T rs989802421 0.00001
NM_000088.4(COL1A1):c.1876-8C>T rs1329959391 0.00001
NM_000088.4(COL1A1):c.2036G>C (p.Arg679Thr) rs972507105 0.00001
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys) rs764826942 0.00001
NM_000088.4(COL1A1):c.2059G>A (p.Val687Met) rs553233250 0.00001
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=) rs777571745 0.00001
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) rs990375606 0.00001
NM_000088.4(COL1A1):c.2235+4A>C rs1382593990 0.00001
NM_000088.4(COL1A1):c.2333C>T (p.Pro778Leu) rs1181679779 0.00001
NM_000088.4(COL1A1):c.2357C>T (p.Pro786Leu) rs756537765 0.00001
NM_000088.4(COL1A1):c.2387G>A (p.Arg796His) rs72651662 0.00001
NM_000088.4(COL1A1):c.2397C>T (p.Pro799=) rs750493684 0.00001
NM_000088.4(COL1A1):c.23G>A (p.Arg8Gln) rs1196007286 0.00001
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys) rs1459870410 0.00001
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu) rs72651668 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2645G>A (p.Arg882Gln) rs754077452 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu) rs747163212 0.00001
NM_000088.4(COL1A1):c.2981G>A (p.Arg994His) rs548928043 0.00001
NM_000088.4(COL1A1):c.3045+11C>T rs201349683 0.00001
NM_000088.4(COL1A1):c.308C>T (p.Thr103Ile) rs369883704 0.00001
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) rs547798347 0.00001
NM_000088.4(COL1A1):c.3197G>A (p.Arg1066His) rs752075205 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.3529G>A (p.Val1177Ile) rs41316719 0.00001
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys) rs376564562 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3813T>A (p.Ser1271Arg) rs1341583755 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.399C>T (p.Gly133=) rs775246452 0.00001
NM_000088.4(COL1A1):c.4040A>G (p.Asp1347Gly) rs772033648 0.00001
NM_000088.4(COL1A1):c.4174G>A (p.Gly1392Ser) rs377379528 0.00001
NM_000088.4(COL1A1):c.4192A>T (p.Ile1398Phe) rs754481870 0.00001
NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys) rs762848021 0.00001
NM_000088.4(COL1A1):c.4258G>A (p.Gly1420Arg) rs139388334 0.00001
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) rs763025405 0.00001
NM_000088.4(COL1A1):c.430C>T (p.Pro144Ser) rs908422422 0.00001
NM_000088.4(COL1A1):c.4319T>C (p.Ile1440Thr) rs757911214 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000088.4(COL1A1):c.4373T>C (p.Val1458Ala) rs775026377 0.00001
NM_000088.4(COL1A1):c.471+6T>C rs1276599083 0.00001
NM_000088.4(COL1A1):c.497G>T (p.Gly166Val) rs372514953 0.00001
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys) rs766407680 0.00001
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys) rs72645341 0.00001
NM_000088.4(COL1A1):c.903+3G>A rs748604968 0.00001
NM_000088.4(COL1A1):c.935G>A (p.Arg312His) rs930476771 0.00001
NM_000088.4(COL1A1):c.937C>T (p.Pro313Ser) rs1054020486 0.00001
NM_000088.4(COL1A1):c.964C>T (p.Arg322Cys) rs777644312 0.00001
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser) rs769106952 0.00001
NM_000088.4(COL1A1):c.983C>A (p.Thr328Asn) rs766151268 0.00001
NM_000089.3(COL1A2):c.-188C>T rs886062512 0.00001
NM_000089.4(COL1A2):c.*193C>T rs1025438678 0.00001
NM_000089.4(COL1A2):c.*465G>T rs937283468 0.00001
NM_000089.4(COL1A2):c.*814A>G rs1584334060 0.00001
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser) rs757569298 0.00001
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala) rs374718116 0.00001
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) rs755584404 0.00001
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) rs748961276 0.00001
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro) rs972825197 0.00001
NM_000089.4(COL1A2):c.1168G>C (p.Ala390Pro) rs763560185 0.00001
NM_000089.4(COL1A2):c.1195A>G (p.Arg399Gly) rs1213766484 0.00001
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His) rs368702549 0.00001
NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys) rs769457034 0.00001
NM_000089.4(COL1A2):c.1267C>T (p.Arg423Cys) rs1270445631 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000089.4(COL1A2):c.1319G>A (p.Arg440His) rs141677005 0.00001
NM_000089.4(COL1A2):c.132+3G>A rs1262984429 0.00001
NM_000089.4(COL1A2):c.133-15C>G rs992330364 0.00001
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe) rs780096548 0.00001
NM_000089.4(COL1A2):c.1404C>T (p.Val468=) rs773852385 0.00001
NM_000089.4(COL1A2):c.1412C>T (p.Pro471Leu) rs760503549 0.00001
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr) rs568201784 0.00001
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln) rs1037367793 0.00001
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr) rs147074348 0.00001
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu) rs1456907715 0.00001
NM_000089.4(COL1A2):c.1611+9T>A rs200333208 0.00001
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362 0.00001
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=) rs1394933873 0.00001
NM_000089.4(COL1A2):c.1780C>G (p.Pro594Ala) rs1396856908 0.00001
NM_000089.4(COL1A2):c.1817T>C (p.Ile606Thr) rs757262502 0.00001
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu) rs780264582 0.00001
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly) rs766541995 0.00001
NM_000089.4(COL1A2):c.1930G>A (p.Glu644Lys) rs143178652 0.00001
NM_000089.4(COL1A2):c.1971+5G>A rs375027186 0.00001
NM_000089.4(COL1A2):c.1971+6T>C rs1345215762 0.00001
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys) rs778295967 0.00001
NM_000089.4(COL1A2):c.2050C>T (p.Pro684Ser) rs747954056 0.00001
NM_000089.4(COL1A2):c.2077C>T (p.Arg693Trp) rs1342960126 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys) rs770271259 0.00001
NM_000089.4(COL1A2):c.2141G>A (p.Arg714His) rs773392397 0.00001
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu) rs774919512 0.00001
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly) rs1205884799 0.00001
NM_000089.4(COL1A2):c.2312C>T (p.Pro771Leu) rs569241110 0.00001
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro) rs774233882 0.00001
NM_000089.4(COL1A2):c.2372C>T (p.Ala791Val) rs1208084157 0.00001
NM_000089.4(COL1A2):c.2506G>A (p.Ala836Thr) rs759738995 0.00001
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu) rs777971816 0.00001
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly) rs752453618 0.00001
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr) rs1245765830 0.00001
NM_000089.4(COL1A2):c.2732C>G (p.Ala911Gly) rs374901613 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.279+12T>C rs751199493 0.00001
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn) rs779358259 0.00001
NM_000089.4(COL1A2):c.2806C>G (p.Pro936Ala) rs1020235088 0.00001
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn) rs776169837 0.00001
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys) rs1026230498 0.00001
NM_000089.4(COL1A2):c.2887C>T (p.Pro963Ser) rs760780128 0.00001
NM_000089.4(COL1A2):c.292C>T (p.Pro98Ser) rs765868569 0.00001
NM_000089.4(COL1A2):c.2932C>T (p.Arg978Cys) rs145633247 0.00001
NM_000089.4(COL1A2):c.2944-3C>T rs1408725826 0.00001
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831 0.00001
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu) rs1204582322 0.00001
NM_000089.4(COL1A2):c.3140T>G (p.Val1047Gly) rs1033662953 0.00001
NM_000089.4(COL1A2):c.323C>G (p.Pro108Arg) rs1791756508 0.00001
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu) rs770180852 0.00001
NM_000089.4(COL1A2):c.3311G>A (p.Ser1104Asn) rs771438684 0.00001
NM_000089.4(COL1A2):c.3346T>C (p.Phe1116Leu) rs1368149627 0.00001
NM_000089.4(COL1A2):c.3404T>C (p.Val1135Ala) rs779411376 0.00001
NM_000089.4(COL1A2):c.3526+4G>A rs1284156162 0.00001
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His) rs750815565 0.00001
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu) rs766941490 0.00001
NM_000089.4(COL1A2):c.3706A>G (p.Ser1236Gly) rs781184808 0.00001
NM_000089.4(COL1A2):c.3708C>A (p.Ser1236Arg) rs1214052566 0.00001
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=) rs1792349319 0.00001
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His) rs200663095 0.00001
NM_000089.4(COL1A2):c.384T>A (p.Pro128=) rs767043956 0.00001
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His) rs1214506904 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000089.4(COL1A2):c.3941T>C (p.Val1314Ala) rs1421507234 0.00001
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=) rs781599112 0.00001
NM_000089.4(COL1A2):c.3995A>T (p.Lys1332Ile) rs1484368913 0.00001
NM_000089.4(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932 0.00001
NM_000089.4(COL1A2):c.4052G>A (p.Gly1351Asp) rs372535479 0.00001
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val) rs1281006993 0.00001
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln) rs765116624 0.00001
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser) rs1283526350 0.00001
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg) rs772672797 0.00001
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala) rs1210318478 0.00001
NM_000089.4(COL1A2):c.693+12C>A rs767990110 0.00001
NM_000089.4(COL1A2):c.69A>G (p.Gln23=) rs770754442 0.00001
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg) rs1313865970 0.00001
NM_000089.4(COL1A2):c.81+8A>C rs765118884 0.00001
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr) rs374616916 0.00001
NM_000089.4(COL1A2):c.845G>A (p.Arg282His) rs542393716 0.00001
NM_000089.4(COL1A2):c.877C>T (p.Pro293Ser) rs1365024484 0.00001
NM_000095.3(COMP):c.217+15G>A rs1439169186 0.00001
NM_000095.3(COMP):c.235C>A (p.Arg79Ser) rs768907479 0.00001
NM_000095.3(COMP):c.314C>A (p.Thr105Lys) rs1377001812 0.00001
NM_000095.3(COMP):c.377C>T (p.Thr126Ile) rs886054305 0.00001
NM_000095.3(COMP):c.850G>A (p.Glu284Lys) rs145895692 0.00001
NM_000112.4(SLC26A2):c.*1071G>A rs1297589956 0.00001
NM_000112.4(SLC26A2):c.*2265C>T rs1561826201 0.00001
NM_000112.4(SLC26A2):c.*2330C>T rs886060239 0.00001
NM_000112.4(SLC26A2):c.*3037G>A rs1171255123 0.00001
NM_000112.4(SLC26A2):c.*3261A>C rs886060245 0.00001
NM_000112.4(SLC26A2):c.*5077A>G rs1430276243 0.00001
NM_000112.4(SLC26A2):c.*5203C>T rs559269489 0.00001
NM_000112.4(SLC26A2):c.*5251C>T rs569655749 0.00001
NM_000112.4(SLC26A2):c.*53C>G rs886060226 0.00001
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr) rs758078719 0.00001
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val) rs1215069127 0.00001
NM_000112.4(SLC26A2):c.1120C>T (p.Pro374Ser) rs763082940 0.00001
NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp) rs794727476 0.00001
NM_000112.4(SLC26A2):c.134A>G (p.Asn45Ser) rs773892702 0.00001
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys) rs145765282 0.00001
NM_000112.4(SLC26A2):c.1615A>G (p.Ile539Val) rs1448915287 0.00001
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His) rs368864462 0.00001
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu) rs1387357203 0.00001
NM_000112.4(SLC26A2):c.1847C>T (p.Ala616Val) rs780207230 0.00001
NM_000112.4(SLC26A2):c.1922A>G (p.His641Arg) rs1253691463 0.00001
NM_000112.4(SLC26A2):c.2012G>A (p.Arg671His) rs1038419867 0.00001
NM_000112.4(SLC26A2):c.2094A>C (p.Glu698Asp) rs371461728 0.00001
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=) rs886060225 0.00001
NM_000112.4(SLC26A2):c.2184A>G (p.Val728=) rs758010725 0.00001
NM_000112.4(SLC26A2):c.280C>T (p.Pro94Ser) rs771569066 0.00001
NM_000112.4(SLC26A2):c.502C>T (p.Leu168=) rs745566850 0.00001
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln) rs747117439 0.00001
NM_000112.4(SLC26A2):c.699+3A>C rs778015831 0.00001
NM_000112.4(SLC26A2):c.709G>A (p.Gly237Ser) rs758186195 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
NM_000112.4(SLC26A2):c.940G>A (p.Val314Ile) rs777527899 0.00001
NM_000135.4(FANCA):c.-28C>G rs886052490 0.00001
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00001
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys) rs374835951 0.00001
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) rs375895456 0.00001
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser) rs1210459454 0.00001
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser) rs780833865 0.00001
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala) rs774319222 0.00001
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe) rs751071791 0.00001
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr) rs757760966 0.00001
NM_000135.4(FANCA):c.1158G>T (p.Trp386Cys) rs752864343 0.00001
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg) rs769664248 0.00001
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) rs912838333 0.00001
NM_000135.4(FANCA):c.1247C>A (p.Ala416Asp) rs750689577 0.00001
NM_000135.4(FANCA):c.1251G>T (p.Gln417His) rs779068860 0.00001
NM_000135.4(FANCA):c.1265G>A (p.Cys422Tyr) rs759128726 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val) rs772567344 0.00001
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile) rs753987812 0.00001
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858 0.00001
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn) rs1262122499 0.00001
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro) rs2041098152 0.00001
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg) rs565303230 0.00001
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn) rs755713516 0.00001
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln) rs377637236 0.00001
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151 0.00001
NM_000135.4(FANCA):c.1471-3C>G rs1291307989 0.00001
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886 0.00001
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser) rs776371246 0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) rs139276494 0.00001
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala) rs1218121624 0.00001
NM_000135.4(FANCA):c.1550G>A (p.Arg517Gln) rs1050329686 0.00001
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn) rs754123446 0.00001
NM_000135.4(FANCA):c.1566G>A (p.Lys522=) rs1276716915 0.00001
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr) rs761614742 0.00001
NM_000135.4(FANCA):c.160C>T (p.His54Tyr) rs1383572316 0.00001
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn) rs775853544 0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.1667T>C (p.Met556Thr) rs750091512 0.00001
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu) rs1032990637 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys) rs765036744 0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=) rs757053400 0.00001
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser) rs766939940 0.00001
NM_000135.4(FANCA):c.1827-3C>T rs772236777 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr) rs766422868 0.00001
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) rs199599499 0.00001
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly) rs151232042 0.00001
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu) rs187300458 0.00001
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro) rs1236146369 0.00001
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr) rs1293899212 0.00001
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.2013T>C (p.Asp671=) rs1225307143 0.00001
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr) rs1319264119 0.00001
NM_000135.4(FANCA):c.2066G>A (p.Gly689Asp) rs769209218 0.00001
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg) rs55692229 0.00001
NM_000135.4(FANCA):c.2111T>A (p.Leu704His) rs1239942003 0.00001
NM_000135.4(FANCA):c.2114G>A (p.Ser705Asn) rs762616165 0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) rs746373917 0.00001
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) rs148203537 0.00001
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln) rs1054636249 0.00001
NM_000135.4(FANCA):c.2146C>A (p.His716Asn) rs754896727 0.00001
NM_000135.4(FANCA):c.2147A>G (p.His716Arg) rs751474452 0.00001
NM_000135.4(FANCA):c.2149A>G (p.Met717Val) rs766173155 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr) rs1425954290 0.00001
NM_000135.4(FANCA):c.2182C>G (p.Gln728Glu) rs780192381 0.00001
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser) rs1440861257 0.00001
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485 0.00001
NM_000135.4(FANCA):c.220C>G (p.Leu74Val) rs770294560 0.00001
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598 0.00001
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys) rs536086288 0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs) rs2039278551 0.00001
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser) rs931143821 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val) rs917707717 0.00001
NM_000135.4(FANCA):c.2333C>T (p.Ala778Val) rs777163986 0.00001
NM_000135.4(FANCA):c.2336C>T (p.Pro779Leu) rs1400044983 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2407G>A (p.Val803Met) rs769083458 0.00001
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu) rs1352100383 0.00001
NM_000135.4(FANCA):c.2419G>A (p.Ala807Thr) rs2039263876 0.00001
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val) rs144570744 0.00001
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg) rs749326662 0.00001
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser) rs2039263207 0.00001
NM_000135.4(FANCA):c.2450T>A (p.Leu817His) rs1307805145 0.00001
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val) rs976586387 0.00001
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn) rs1339411422 0.00001
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser) rs1292223325 0.00001
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys) rs751222471 0.00001
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484 0.00001
NM_000135.4(FANCA):c.2573G>C (p.Ser858Thr) rs1291169859 0.00001
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser) rs1331781220 0.00001
NM_000135.4(FANCA):c.2602-8T>C rs772897825 0.00001
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) rs758619078 0.00001
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val) rs779617838 0.00001
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys) rs776492214 0.00001
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316 0.00001
NM_000135.4(FANCA):c.2696C>T (p.Pro899Leu) rs1424540726 0.00001
NM_000135.4(FANCA):c.2704G>C (p.Asp902His) rs1009521389 0.00001
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr) rs763769211 0.00001
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) rs748454613 0.00001
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln) rs747220449 0.00001
NM_000135.4(FANCA):c.2779-9C>G rs764825402 0.00001
NM_000135.4(FANCA):c.2800C>A (p.His934Asn) rs774871582 0.00001
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met) rs769970040 0.00001
NM_000135.4(FANCA):c.2873C>T (p.Ala958Val) rs1374262828 0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=) rs199916178 0.00001
NM_000135.4(FANCA):c.2879A>G (p.His960Arg) rs1460469198 0.00001
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.2947A>T (p.Ile983Phe) rs375312389 0.00001
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe) rs751380220 0.00001
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr) rs752735858 0.00001
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr) rs967438026 0.00001
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986 0.00001
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly) rs1303235237 0.00001
NM_000135.4(FANCA):c.3065A>G (p.Gln1022Arg) rs933911279 0.00001
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val) rs545999415 0.00001
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr) rs771174892 0.00001
NM_000135.4(FANCA):c.3125C>T (p.Pro1042Leu) rs1173497525 0.00001
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr) rs747913731 0.00001
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val) rs370873098 0.00001
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00001
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys) rs776391208 0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg) rs1013239803 0.00001
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile) rs2038515231 0.00001
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp) rs760392231 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys) rs764206631 0.00001
NM_000135.4(FANCA):c.3268C>T (p.Leu1090Phe) rs1567603054 0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) rs762719233 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile) rs1204335568 0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) rs1437529209 0.00001
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr) rs1162813981 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr) rs2038408218 0.00001
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282 0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) rs765106818 0.00001
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) rs1201642328 0.00001
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) rs1351484293 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3626+7G>A rs933657325 0.00001
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr) rs1262639465 0.00001
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877 0.00001
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) rs751899346 0.00001
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu) rs777313447 0.00001
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys) rs766875357 0.00001
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln) rs766875357 0.00001
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu) rs752800577 0.00001
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) rs759514393 0.00001
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn) rs914045767 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn) rs749869884 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg) rs1439125894 0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His) rs1486155993 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe) rs112734327 0.00001
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln) rs761934804 0.00001
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) rs745688750 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val) rs2062056417 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu) rs1436768029 0.00001
NM_000135.4(FANCA):c.4167+2C>T rs374765708 0.00001
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val) rs1376923890 0.00001
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) rs1441175300 0.00001
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377 0.00001
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn) rs747310276 0.00001
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val) rs2062029094 0.00001
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly) rs770716257 0.00001
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) rs908258968 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.488G>A (p.Arg163His) rs375648811 0.00001
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg) rs1449541412 0.00001
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys) rs758528624 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 0.00001
NM_000135.4(FANCA):c.563A>G (p.Gln188Arg) rs763736133 0.00001
NM_000135.4(FANCA):c.571G>T (p.Val191Leu) rs1429483489 0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164 0.00001
NM_000135.4(FANCA):c.596+5C>T rs758345423 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.610C>G (p.His204Asp) rs749380996 0.00001
NM_000135.4(FANCA):c.660G>C (p.Gln220His) rs1555571174 0.00001
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu) rs1598177148 0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000135.4(FANCA):c.700A>G (p.Met234Val) rs1042676101 0.00001
NM_000135.4(FANCA):c.769G>A (p.Val257Met) rs777311234 0.00001
NM_000135.4(FANCA):c.793-12C>G rs746312984 0.00001
NM_000135.4(FANCA):c.793-3C>G rs749688050 0.00001
NM_000135.4(FANCA):c.797C>T (p.Thr266Met) rs752799441 0.00001
NM_000135.4(FANCA):c.7G>C (p.Asp3His) rs1246636933 0.00001
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101 0.00001
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317 0.00001
NM_000135.4(FANCA):c.876C>G (p.His292Gln) rs527897404 0.00001
NM_000135.4(FANCA):c.882C>G (p.Ile294Met) rs754520622 0.00001
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala) rs1183087111 0.00001
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877 0.00001
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala) rs745451374 0.00001
NM_000135.4(FANCA):c.913C>T (p.His305Tyr) rs774054025 0.00001
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) rs370852532 0.00001
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg) rs2041101472 0.00001
NM_000135.4(FANCA):c.982C>G (p.Leu328Val) rs779244841 0.00001
NM_000136.3(FANCC):c.*1045C>T rs537983135 0.00001
NM_000136.3(FANCC):c.*143A>G rs189154697 0.00001
NM_000136.3(FANCC):c.*1976C>T rs752733985 0.00001
NM_000136.3(FANCC):c.*2128C>T rs567507884 0.00001
NM_000136.3(FANCC):c.*2402G>C rs1354689137 0.00001
NM_000136.3(FANCC):c.*2528A>G rs1057515696 0.00001
NM_000136.3(FANCC):c.*576C>T rs1057515701 0.00001
NM_000136.3(FANCC):c.-2A>G rs773045474 0.00001
NM_000136.3(FANCC):c.-79+1G>A rs1228886763 0.00001
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln) rs377468919 0.00001
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys) rs746828156 0.00001
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala) rs1228873579 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser) rs143212932 0.00001
NM_000136.3(FANCC):c.1063G>C (p.Asp355His) rs587778325 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu) rs730881721 0.00001
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln) rs761336987 0.00001
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg) rs771694972 0.00001
NM_000136.3(FANCC):c.109C>G (p.His37Asp) rs864622230 0.00001
NM_000136.3(FANCC):c.112G>A (p.Val38Met) rs778951584 0.00001
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) rs770809637 0.00001
NM_000136.3(FANCC):c.1150C>T (p.His384Tyr) rs1383057170 0.00001
NM_000136.3(FANCC):c.1151A>G (p.His384Arg) rs577302082 0.00001
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg) rs730881722 0.00001
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser) rs1284061457 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser) rs1588047887 0.00001
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405 0.00001
NM_000136.3(FANCC):c.1298G>A (p.Arg433His) rs768676102 0.00001
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg) rs912537449 0.00001
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781 0.00001
NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser) rs141805918 0.00001
NM_000136.3(FANCC):c.1355A>G (p.His452Arg) rs1224625808 0.00001
NM_000136.3(FANCC):c.1358T>A (p.Leu453His) rs1490551416 0.00001
NM_000136.3(FANCC):c.1366A>G (p.Met456Val) rs1554828443 0.00001
NM_000136.3(FANCC):c.1379G>A (p.Ser460Asn) rs748938789 0.00001
NM_000136.3(FANCC):c.143T>C (p.Met48Thr) rs1353498563 0.00001
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775 0.00001
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187 0.00001
NM_000136.3(FANCC):c.1540C>T (p.His514Tyr) rs749319183 0.00001
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala) rs781445050 0.00001
NM_000136.3(FANCC):c.1567A>G (p.Ile523Val) rs1235875394 0.00001
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151 0.00001
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser) rs755289392 0.00001
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys) rs1564794487 0.00001
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120 0.00001
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu) rs1064793496 0.00001
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 0.00001
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln) rs369636116 0.00001
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile) rs149566909 0.00001
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln) rs150174412 0.00001
NM_000136.3(FANCC):c.238A>G (p.Ile80Val) rs1064793110 0.00001
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr) rs4647419 0.00001
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln) rs1060502519 0.00001
NM_000136.3(FANCC):c.271A>G (p.Ile91Val) rs771619614 0.00001
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr) rs774029807 0.00001
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro) rs1223097554 0.00001
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro) rs777731560 0.00001
NM_000136.3(FANCC):c.345G>A (p.Gln115=) rs1031713372 0.00001
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp) rs1282106098 0.00001
NM_000136.3(FANCC):c.364C>T (p.Leu122Phe) rs1064796148 0.00001
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe) rs587779906 0.00001
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro) rs1180924540 0.00001
NM_000136.3(FANCC):c.436_438del (p.Tyr146del) rs761347179 0.00001
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711 0.00001
NM_000136.3(FANCC):c.46A>G (p.Met16Val) rs1390412870 0.00001
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro) rs372338418 0.00001
NM_000136.3(FANCC):c.476C>T (p.Ser159Phe) rs1588218581 0.00001
NM_000136.3(FANCC):c.521+5G>C rs1301899973 0.00001
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro) rs767389988 0.00001
NM_000136.3(FANCC):c.530C>T (p.Pro177Leu) rs1208450171 0.00001
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys) rs554302947 0.00001
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) rs538875706 0.00001
NM_000136.3(FANCC):c.542C>T (p.Ala181Val) rs182879858 0.00001
NM_000136.3(FANCC):c.551C>T (p.Ser184Leu) rs746367952 0.00001
NM_000136.3(FANCC):c.571A>C (p.Ile191Leu) rs752429169 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.583G>C (p.Asp195His) rs774140528 0.00001
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys) rs373270404 0.00001
NM_000136.3(FANCC):c.635A>G (p.Gln212Arg) rs1445499474 0.00001
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) rs730881714 0.00001
NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr) rs1588181383 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.679A>G (p.Ile227Val) rs864622550 0.00001
NM_000136.3(FANCC):c.706A>G (p.Met236Val) rs771319430 0.00001
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) rs1554835099 0.00001
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr) rs1165230596 0.00001
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717 0.00001
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser) rs730881718 0.00001
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) rs745621828 0.00001
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154 0.00001
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615 0.00001
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511 0.00001
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu) rs769649289 0.00001
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) rs747060782 0.00001
NM_000136.3(FANCC):c.897-3C>T rs1057521714 0.00001
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser) rs759083348 0.00001
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro) rs1415268424 0.00001
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn) rs772992002 0.00001
NM_000136.3(FANCC):c.917A>T (p.Asp306Val) rs1383010376 0.00001
NM_000136.3(FANCC):c.943A>G (p.Ile315Val) rs587779910 0.00001
NM_000136.3(FANCC):c.950T>G (p.Val317Gly) rs1438781491 0.00001
NM_000136.3(FANCC):c.956C>T (p.Thr319Met) rs745910444 0.00001
NM_000136.3(FANCC):c.996+6T>C rs200934877 0.00001
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191 0.00001
NM_000138.5(FBN1):c.794C>T (p.Thr265Ile) rs762310407 0.00001
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.*497T>C rs3135827 0.00001
NM_000141.5(FGFR2):c.-128G>A rs547739869 0.00001
NM_000141.5(FGFR2):c.-129C>T rs886046765 0.00001
NM_000141.5(FGFR2):c.-196G>A rs1457119353 0.00001
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=) rs757648006 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1562-11A>G rs41293744 0.00001
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly) rs55689343 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.204C>T (p.Ala68=) rs747982371 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00001
NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys) rs1031160906 0.00001
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580 0.00001
NM_000192.3(TBX5):c.-153T>G rs1872328985 0.00001
NM_000192.3(TBX5):c.-503C>T rs893809666 0.00001
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000316.3(PTH1R):c.1048G>A (p.Gly350Arg) rs201363790 0.00001
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) rs763816214 0.00001
NM_000316.3(PTH1R):c.1212-10G>A rs202090342 0.00001
NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) rs199670451 0.00001
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) rs568635759 0.00001
NM_000316.3(PTH1R):c.57C>G (p.Leu19=) rs780469309 0.00001
NM_000316.3(PTH1R):c.691A>G (p.Met231Val) rs1353904110 0.00001
NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser) rs387907462 0.00001
NM_000346.4(SOX9):c.1109C>T (p.Pro370Leu) rs1908199604 0.00001
NM_000346.4(SOX9):c.1178A>G (p.Gln393Arg) rs1016657347 0.00001
NM_000346.4(SOX9):c.1504G>A (p.Val502Ile) rs774375417 0.00001
NM_000346.4(SOX9):c.173C>G (p.Pro58Arg) rs770917232 0.00001
NM_000346.4(SOX9):c.447C>T (p.Ser149=) rs769838386 0.00001
NM_000346.4(SOX9):c.59G>C (p.Gly20Ala) rs1276160255 0.00001
NM_000346.4(SOX9):c.737A>C (p.Gln246Pro) rs773882079 0.00001
NM_000346.4(SOX9):c.787G>A (p.Gly263Ser) rs752926968 0.00001
NM_000396.3(CTSK):c.-83G>A rs1485596531 0.00001
NM_000396.4(CTSK):c.115A>T (p.Asn39Tyr) rs771768736 0.00001
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln) rs1553197383 0.00001
NM_000396.4(CTSK):c.551A>G (p.Asn184Ser) rs774888582 0.00001
NM_000396.4(CTSK):c.685G>A (p.Glu229Lys) rs200515162 0.00001
NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn) rs2522202 0.00001
NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser) rs1310233431 0.00001
NM_000474.4(TWIST1):c.316C>G (p.Leu106Val) rs1230428800 0.00001
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) rs559821440 0.00001
NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe) rs1300239598 0.00001
NM_000478.6(ALPL):c.1103C>T (p.Ser368Leu) rs368809478 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000493.4(COL10A1):c.*1085G>A rs1182559215 0.00001
NM_000493.4(COL10A1):c.*185T>G rs986876434 0.00001
NM_000493.4(COL10A1):c.*428G>A rs930178504 0.00001
NM_000493.4(COL10A1):c.*572T>C rs1428601951 0.00001
NM_000493.4(COL10A1):c.1073C>T (p.Pro358Leu) rs372281591 0.00001
NM_000493.4(COL10A1):c.1328G>A (p.Gly443Asp) rs539549311 0.00001
NM_000493.4(COL10A1):c.212G>A (p.Arg71Gln) rs199761751 0.00001
NM_000493.4(COL10A1):c.567G>A (p.Gly189=) rs201737018 0.00001
NM_000493.4(COL10A1):c.633A>G (p.Thr211=) rs886060992 0.00001
NM_000493.4(COL10A1):c.71G>A (p.Arg24Gln) rs766938257 0.00001
NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn) rs1784060954 0.00001
NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg) rs1057518768 0.00001
NM_000557.5(GDF5):c.*166G>A rs569761315 0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) rs367914931 0.00001
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) rs758630897 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) rs768978933 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
NM_000942.4(PPIB):c.-136C>T rs886051328 0.00001
NM_000942.4(PPIB):c.-57G>A rs886051326 0.00001
NM_000942.5(PPIB):c.*12A>G rs763342854 0.00001
NM_000942.5(PPIB):c.364C>T (p.Arg122Cys) rs886051322 0.00001
NM_000942.5(PPIB):c.426C>T (p.Asn142=) rs766129397 0.00001
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser) rs971237623 0.00001
NM_001011658.4(TRAPPC2):c.*1191C>T rs1057515789 0.00001
NM_001011658.4(TRAPPC2):c.*690T>C rs1478481249 0.00001
NM_001013693.3(LDLRAD2):c.*451C>T rs927771131 0.00001
NM_001015880.2(PAPSS2):c.1064G>C (p.Cys355Ser) rs1395925746 0.00001
NM_001015880.2(PAPSS2):c.1175G>A (p.Arg392His) rs533052477 0.00001
NM_001015880.2(PAPSS2):c.1384T>C (p.Trp462Arg) rs1564729826 0.00001
NM_001015880.2(PAPSS2):c.1704C>A (p.Asp568Glu) rs773771667 0.00001
NM_001015880.2(PAPSS2):c.1807C>T (p.Pro603Ser) rs760987617 0.00001
NM_001015880.2(PAPSS2):c.278C>G (p.Pro93Arg) rs370889902 0.00001
NM_001015880.2(PAPSS2):c.341G>C (p.Gly114Ala) rs367585217 0.00001
NM_001015880.2(PAPSS2):c.701T>C (p.Leu234Pro) rs1853516036 0.00001
NM_001015880.2(PAPSS2):c.817C>T (p.Arg273Trp) rs750018545 0.00001
NM_001015880.2(PAPSS2):c.818G>A (p.Arg273Gln) rs1348137811 0.00001
NM_001015880.2(PAPSS2):c.865+4T>C rs746039103 0.00001
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly) rs1422244944 0.00001
NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg) rs781251036 0.00001
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile) rs2092465105 0.00001
NM_001018113.3(FANCB):c.1160G>A (p.Arg387His) rs757202355 0.00001
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805 0.00001
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr) rs1313938907 0.00001
NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr) rs867778700 0.00001
NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys) rs2092396737 0.00001
NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro) rs935080919 0.00001
NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val) rs749342600 0.00001
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) rs773313492 0.00001
NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val) rs752804063 0.00001
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val) rs1336185048 0.00001
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) rs773221142 0.00001
NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile) rs771950360 0.00001
NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser) rs1298952108 0.00001
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp) rs1317998053 0.00001
NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu) rs780032769 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 0.00001
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr) rs1220308530 0.00001
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr) rs1440633578 0.00001
NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr) rs377268147 0.00001
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn) rs1416043928 0.00001
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu) rs1232355920 0.00001
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile) rs1278850689 0.00001
NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val) rs1389308960 0.00001
NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys) rs758926056 0.00001
NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala) rs765112491 0.00001
NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val) rs746453967 0.00001
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu) rs767721906 0.00001
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794 0.00001
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile) rs995483698 0.00001
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu) rs767194178 0.00001
NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys) rs1247789556 0.00001
NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn) rs1254494594 0.00001
NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys) rs145928137 0.00001
NM_001018113.3(FANCB):c.440T>C (p.Val147Ala) rs757074045 0.00001
NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu) rs1316359856 0.00001
NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe) rs1208436363 0.00001
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250 0.00001
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr) rs1366041068 0.00001
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351 0.00001
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly) rs1265222877 0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) rs374217132 0.00001
NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala) rs769701122 0.00001
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) rs757610875 0.00001
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) rs754238911 0.00001
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808 0.00001
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val) rs1242186487 0.00001
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp) rs1246382467 0.00001
NM_001018115.3(FANCD2):c.1132A>G (p.Lys378Glu) rs1171804978 0.00001
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr) rs148255762 0.00001
NM_001018115.3(FANCD2):c.1250T>C (p.Leu417Pro) rs1369011648 0.00001
NM_001018115.3(FANCD2):c.1278+6T>C rs779894573 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1310C>T (p.Ser437Leu) rs1349417700 0.00001
NM_001018115.3(FANCD2):c.1325T>G (p.Leu442Trp) rs1400034764 0.00001
NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg) rs777539464 0.00001
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile) rs780374375 0.00001
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile) rs761454597 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1516G>A (p.Ala506Thr) rs767699213 0.00001
NM_001018115.3(FANCD2):c.1519A>G (p.Met507Val) rs376708399 0.00001
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln) rs1249790407 0.00001
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile) rs773483393 0.00001
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=) rs1447943740 0.00001
NM_001018115.3(FANCD2):c.1835C>T (p.Ser612Phe) rs760516842 0.00001
NM_001018115.3(FANCD2):c.1864G>A (p.Glu622Lys) rs375951862 0.00001
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) rs770231582 0.00001
NM_001018115.3(FANCD2):c.1903T>C (p.Phe635Leu) rs1179966779 0.00001
NM_001018115.3(FANCD2):c.1912C>G (p.Leu638Val) rs760324486 0.00001
NM_001018115.3(FANCD2):c.1993G>A (p.Val665Ile) rs774405864 0.00001
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=) rs138189144 0.00001
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=) rs552206789 0.00001
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val) rs201243424 0.00001
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser) rs911843298 0.00001
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp) rs752621186 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg) rs2087692676 0.00001
NM_001018115.3(FANCD2):c.2269+3A>G rs1246708998 0.00001
NM_001018115.3(FANCD2):c.2270A>G (p.Asp757Gly) rs779060030 0.00001
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe) rs1398046806 0.00001
NM_001018115.3(FANCD2):c.2366C>T (p.Thr789Ile) rs1263342232 0.00001
NM_001018115.3(FANCD2):c.2376G>C (p.Trp792Cys) rs752013429 0.00001
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val) rs1305213202 0.00001
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn) rs769811062 0.00001
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys) rs375506300 0.00001
NM_001018115.3(FANCD2):c.2632A>C (p.Lys878Gln) rs780018258 0.00001
NM_001018115.3(FANCD2):c.2715+20C>G rs199714316 0.00001
NM_001018115.3(FANCD2):c.2730G>T (p.Lys910Asn) rs369241246 0.00001
NM_001018115.3(FANCD2):c.2745_2747del (p.Leu918del) rs1232274352 0.00001
NM_001018115.3(FANCD2):c.2810A>G (p.His937Arg) rs746389067 0.00001
NM_001018115.3(FANCD2):c.2860-6T>A rs772531991 0.00001
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile) rs1480379325 0.00001
NM_001018115.3(FANCD2):c.2926C>A (p.Leu976Met) rs753809948 0.00001
NM_001018115.3(FANCD2):c.2976+5G>A rs748710535 0.00001
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp) rs587778330 0.00001
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln) rs587778331 0.00001
NM_001018115.3(FANCD2):c.3224+8T>A rs1412513898 0.00001
NM_001018115.3(FANCD2):c.3248A>G (p.Asn1083Ser) rs1180577651 0.00001
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=) rs759252565 0.00001
NM_001018115.3(FANCD2):c.3313C>G (p.Gln1105Glu) rs1694168766 0.00001
NM_001018115.3(FANCD2):c.3347A>G (p.His1116Arg) rs548876750 0.00001
NM_001018115.3(FANCD2):c.3400C>T (p.Leu1134Phe) rs587778332 0.00001
NM_001018115.3(FANCD2):c.3416T>C (p.Met1139Thr) rs755205321 0.00001
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile) rs988476435 0.00001
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser) rs764205355 0.00001
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=) rs745765337 0.00001
NM_001018115.3(FANCD2):c.3561-4G>T rs1694400747 0.00001
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe) rs373757862 0.00001
NM_001018115.3(FANCD2):c.3638A>G (p.Asn1213Ser) rs771903324 0.00001
NM_001018115.3(FANCD2):c.3639C>G (p.Asn1213Lys) rs780098296 0.00001
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=) rs1168183069 0.00001
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu) rs367552677 0.00001
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=) rs760054945 0.00001
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala) rs767806932 0.00001
NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala) rs568515612 0.00001
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu) rs374940277 0.00001
NM_001018115.3(FANCD2):c.3772C>G (p.Gln1258Glu) rs994778998 0.00001
NM_001018115.3(FANCD2):c.3775C>A (p.Gln1259Lys) rs1407465957 0.00001
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys) rs772201181 0.00001
NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg) rs756078235 0.00001
NM_001018115.3(FANCD2):c.4048G>A (p.Asp1350Asn) rs772169028 0.00001
NM_001018115.3(FANCD2):c.4133A>G (p.Asn1378Ser) rs1452379242 0.00001
NM_001018115.3(FANCD2):c.4137T>A (p.Asn1379Lys) rs752376206 0.00001
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4177G>A (p.Asp1393Asn) rs1273669064 0.00001
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys) rs753272541 0.00001
NM_001018115.3(FANCD2):c.4196T>C (p.Ile1399Thr) rs1369071910 0.00001
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp) rs61753270 0.00001
NM_001018115.3(FANCD2):c.4281+121C>T rs764865805 0.00001
NM_001018115.3(FANCD2):c.4281+179C>T rs370459744 0.00001
NM_001018115.3(FANCD2):c.4281+22_4281+29del rs878855172 0.00001
NM_001018115.3(FANCD2):c.4281+525A>G rs886057695 0.00001
NM_001018115.3(FANCD2):c.4281+562C>A rs550613588 0.00001
NM_001018115.3(FANCD2):c.4281+69G>A rs754606069 0.00001
NM_001018115.3(FANCD2):c.4281+71G>A rs568997706 0.00001
NM_001018115.3(FANCD2):c.4281+77C>T rs748421381 0.00001
NM_001018115.3(FANCD2):c.4281+91G>A rs771414227 0.00001
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys) rs755911397 0.00001
NM_001018115.3(FANCD2):c.439-3T>C rs771998947 0.00001
NM_001018115.3(FANCD2):c.461T>C (p.Phe154Ser) rs200668378 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln) rs41291203 0.00001
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=) rs2086806957 0.00001
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val) rs779216164 0.00001
NM_001018115.3(FANCD2):c.58G>A (p.Ala20Thr) rs1338392055 0.00001
NM_001018115.3(FANCD2):c.65-3C>T rs1461324891 0.00001
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro) rs760574880 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.805A>C (p.Lys269Gln) rs747977469 0.00001
NM_001018115.3(FANCD2):c.812C>T (p.Ser271Leu) rs766821340 0.00001
NM_001018115.3(FANCD2):c.908A>G (p.Glu303Gly) rs367824549 0.00001
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001024630.4(RUNX2):c.*1376C>T rs1253474691 0.00001
NM_001024630.4(RUNX2):c.*1684G>C rs745340776 0.00001
NM_001024630.4(RUNX2):c.*2236T>G rs531493813 0.00001
NM_001024630.4(RUNX2):c.*2318A>T rs886061502 0.00001
NM_001024630.4(RUNX2):c.*2622G>C rs886061504 0.00001
NM_001024630.4(RUNX2):c.*2786A>G rs886061507 0.00001
NM_001024630.4(RUNX2):c.*2890A>G rs886061508 0.00001
NM_001024630.4(RUNX2):c.*3693A>G rs146924197 0.00001
NM_001024630.4(RUNX2):c.340G>A (p.Val114Ile) rs1798260254 0.00001
NM_001024630.4(RUNX2):c.481G>A (p.Asp161Asn) rs1477047335 0.00001
NM_001024630.4(RUNX2):c.613A>G (p.Thr205Ala) rs762910660 0.00001
NM_001024630.4(RUNX2):c.863C>T (p.Pro288Leu) rs148326029 0.00001
NM_001031725.6(DDX59):c.27C>G (p.Ile9Met) rs766385057 0.00001
NM_001039958.2(MESP2):c.*10G>A rs1407551013 0.00001
NM_001039958.2(MESP2):c.*229T>C rs543644563 0.00001
NM_001039958.2(MESP2):c.*50G>A rs755600035 0.00001
NM_001039958.2(MESP2):c.1073C>T (p.Pro358Leu) rs564292487 0.00001
NM_001039958.2(MESP2):c.1080C>T (p.Ala360=) rs762014488 0.00001
NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter) rs1317833419 0.00001
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr) rs1319032121 0.00001
NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg) rs764972465 0.00001
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter) rs766664800 0.00001
NM_001040167.2(LFNG):c.287C>G (p.Pro96Arg) rs1468105982 0.00001
NM_001040167.2(LFNG):c.308C>T (p.Pro103Leu) rs747331172 0.00001
NM_001040167.2(LFNG):c.369A>C (p.Lys123Asn) rs1779752729 0.00001
NM_001040167.2(LFNG):c.527C>T (p.Ala176Val) rs376234607 0.00001
NM_001040167.2(LFNG):c.547G>A (p.Val183Met) rs527357436 0.00001
NM_001040167.2(LFNG):c.560G>A (p.Arg187His) rs372894218 0.00001
NM_001040167.2(LFNG):c.643G>A (p.Ala215Thr) rs1160316709 0.00001
NM_001040167.2(LFNG):c.766G>A (p.Gly256Ser) rs1437427476 0.00001
NM_001040167.2(LFNG):c.812C>T (p.Pro271Leu) rs763392875 0.00001
NM_001040167.2(LFNG):c.842C>T (p.Thr281Met) rs760970272 0.00001
NM_001040167.2(LFNG):c.987G>A (p.Gln329=) rs1779976779 0.00001
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001104631.2(PDE4D):c.*131T>C rs953481477 0.00001
NM_001104631.2(PDE4D):c.*1379A>G rs886060708 0.00001
NM_001104631.2(PDE4D):c.*4981C>G rs1024653706 0.00001
NM_001104631.2(PDE4D):c.*780G>C rs886060712 0.00001
NM_001104631.2(PDE4D):c.1188+15A>G rs1747991195 0.00001
NM_001104631.2(PDE4D):c.1476T>G (p.Ile492Met) rs1379060456 0.00001
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=) rs371404288 0.00001
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe) rs761294824 0.00001
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp) rs759832724 0.00001
NM_001104631.2(PDE4D):c.225G>A (p.Pro75=) rs957259316 0.00001
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly) rs1290453118 0.00001
NM_001104631.2(PDE4D):c.2399G>T (p.Cys800Phe) rs779815130 0.00001
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr) rs780848487 0.00001
NM_001113378.2(FANCI):c.-23G>A rs886051506 0.00001
NM_001113378.2(FANCI):c.-72C>G rs886051505 0.00001
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) rs72762644 0.00001
NM_001113378.2(FANCI):c.1039T>C (p.Ser347Pro) rs1289791231 0.00001
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser) rs565007212 0.00001
NM_001113378.2(FANCI):c.1138C>G (p.Gln380Glu) rs748470270 0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) rs1012254525 0.00001
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) rs1390853875 0.00001
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=) rs772846275 0.00001
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) rs200186938 0.00001
NM_001113378.2(FANCI):c.1406A>G (p.Tyr469Cys) rs756206080 0.00001
NM_001113378.2(FANCI):c.1411C>G (p.Pro471Ala) rs1287849752 0.00001
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile) rs746777753 0.00001
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly) rs775192850 0.00001
NM_001113378.2(FANCI):c.1477C>T (p.Leu493Phe) rs2053603881 0.00001
NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys) rs554471987 0.00001
NM_001113378.2(FANCI):c.1514C>T (p.Pro505Leu) rs773105092 0.00001
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe) rs762294213 0.00001
NM_001113378.2(FANCI):c.1698+6G>T rs762886638 0.00001
NM_001113378.2(FANCI):c.16T>G (p.Leu6Val) rs748018574 0.00001
NM_001113378.2(FANCI):c.1787G>A (p.Ser596Asn) rs754190768 0.00001
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln) rs201641791 0.00001
NM_001113378.2(FANCI):c.1821+5G>A rs769718753 0.00001
NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe) rs776139524 0.00001
NM_001113378.2(FANCI):c.1A>G (p.Met1Val) rs781249928 0.00001
NM_001113378.2(FANCI):c.2017C>T (p.His673Tyr) rs763866498 0.00001
NM_001113378.2(FANCI):c.2033A>G (p.Tyr678Cys) rs916935359 0.00001
NM_001113378.2(FANCI):c.2051C>T (p.Pro684Leu) rs779276973 0.00001
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg) rs772393046 0.00001
NM_001113378.2(FANCI):c.2063G>A (p.Gly688Glu) rs778157971 0.00001
NM_001113378.2(FANCI):c.2098G>A (p.Glu700Lys) rs199615501 0.00001
NM_001113378.2(FANCI):c.2114T>C (p.Ile705Thr) rs760554629 0.00001
NM_001113378.2(FANCI):c.2131A>T (p.Asn711Tyr) rs766073258 0.00001
NM_001113378.2(FANCI):c.2169+12G>A rs886051512 0.00001
NM_001113378.2(FANCI):c.2169+8C>G rs534051118 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile) rs757610698 0.00001
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr) rs911033971 0.00001
NM_001113378.2(FANCI):c.2212A>G (p.Lys738Glu) rs1423332049 0.00001
NM_001113378.2(FANCI):c.2224T>C (p.Cys742Arg) rs770611634 0.00001
NM_001113378.2(FANCI):c.2292-6T>C rs772352819 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile) rs560692029 0.00001
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu) rs1421332670 0.00001
NM_001113378.2(FANCI):c.2393A>G (p.Asn798Ser) rs548409550 0.00001
NM_001113378.2(FANCI):c.2421G>A (p.Met807Ile) rs1282555629 0.00001
NM_001113378.2(FANCI):c.243G>T (p.Leu81Phe) rs765418977 0.00001
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp) rs879531765 0.00001
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) rs777269384 0.00001
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp) rs1361710673 0.00001
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) rs199758631 0.00001
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) rs770499988 0.00001
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln) rs1384613419 0.00001
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419 0.00001
NM_001113378.2(FANCI):c.2617A>G (p.Asn873Asp) rs764167093 0.00001
NM_001113378.2(FANCI):c.2623T>C (p.Cys875Arg) rs1309949902 0.00001
NM_001113378.2(FANCI):c.2636+3A>G rs2054202681 0.00001
NM_001113378.2(FANCI):c.2636+4A>G rs1211300732 0.00001
NM_001113378.2(FANCI):c.2636G>A (p.Arg879Gln) rs1488657979 0.00001
NM_001113378.2(FANCI):c.2649G>C (p.Trp883Cys) rs776067081 0.00001
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu) rs762647324 0.00001
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) rs751233975 0.00001
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) rs748546731 0.00001
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu) rs773438545 0.00001
NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly) rs1060501898 0.00001
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp) rs1184165155 0.00001
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile) rs767462150 0.00001
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) rs151267266 0.00001
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln) rs776851666 0.00001
NM_001113378.2(FANCI):c.290C>T (p.Ala97Val) rs1555442676 0.00001
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg) rs780663944 0.00001
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr) rs886051507 0.00001
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) rs1194951081 0.00001
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg) rs150387641 0.00001
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val) rs1343059856 0.00001
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys) rs1429500240 0.00001
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) rs763822728 0.00001
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=) rs767103109 0.00001
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513 0.00001
NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser) rs368987143 0.00001
NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His) rs1388053700 0.00001
NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg) rs78234788 0.00001
NM_001113378.2(FANCI):c.3379A>G (p.Asn1127Asp) rs878854179 0.00001
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829 0.00001
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601 0.00001
NM_001113378.2(FANCI):c.3435C>G (p.Phe1145Leu) rs1344945720 0.00001
NM_001113378.2(FANCI):c.3439G>A (p.Glu1147Lys) rs947003968 0.00001
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) rs1043718711 0.00001
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val) rs368451326 0.00001
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val) rs757606290 0.00001
NM_001113378.2(FANCI):c.3505A>T (p.Met1169Leu) rs757606290 0.00001
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile) rs552222011 0.00001
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) rs757106031 0.00001
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg) rs772739034 0.00001
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) rs149763090 0.00001
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala) rs759758760 0.00001
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro) rs373184027 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_001113378.2(FANCI):c.3665G>A (p.Ser1222Asn) rs746232111 0.00001
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr) rs780218001 0.00001
NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys) rs1351957141 0.00001
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) rs751025656 0.00001
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile) rs1321885310 0.00001
NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg) rs749287934 0.00001
NM_001113378.2(FANCI):c.3816+4A>G rs575207637 0.00001
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) rs780404413 0.00001
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525 0.00001
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys) rs561190476 0.00001
NM_001113378.2(FANCI):c.3924+3C>T rs766430678 0.00001
NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp) rs760646851 0.00001
NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser) rs1357711884 0.00001
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) rs754573704 0.00001
NM_001113378.2(FANCI):c.394A>G (p.Ile132Val) rs749540937 0.00001
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met) rs916916820 0.00001
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) rs768553208 0.00001
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met) rs1161378135 0.00001
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) rs1410323660 0.00001
NM_001113378.2(FANCI):c.475C>G (p.Gln159Glu) rs765463274 0.00001
NM_001113378.2(FANCI):c.497C>G (p.Ser166Cys) rs745789593 0.00001
NM_001113378.2(FANCI):c.504-3C>T rs1457153041 0.00001
NM_001113378.2(FANCI):c.538A>T (p.Met180Leu) rs1233794193 0.00001
NM_001113378.2(FANCI):c.539T>C (p.Met180Thr) rs139834845 0.00001
NM_001113378.2(FANCI):c.546-6C>T rs754929965 0.00001
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro) rs1370113722 0.00001
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) rs1296106146 0.00001
NM_001113378.2(FANCI):c.614T>G (p.Met205Arg) rs750520404 0.00001
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln) rs752707646 0.00001
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) rs749779839 0.00001
NM_001113378.2(FANCI):c.794G>A (p.Arg265His) rs375652309 0.00001
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) rs778263817 0.00001
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser) rs575416245 0.00001
NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg) rs745623288 0.00001
NM_001113378.2(FANCI):c.925A>G (p.Ser309Gly) rs1184166680 0.00001
NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser) rs745341673 0.00001
NM_001113378.2(FANCI):c.955A>G (p.Ile319Val) rs1451676691 0.00001
NM_001113378.2(FANCI):c.975+3A>G rs773615217 0.00001
NM_001113378.2(FANCI):c.976-6C>T rs2053316788 0.00001
NM_001113525.2(ZNF276):c.*1220G>A rs1445940471 0.00001
NM_001113525.2(ZNF276):c.*1228G>A rs1206285832 0.00001
NM_001113525.2(ZNF276):c.*739A>G rs753475025 0.00001
NM_001113525.2(ZNF276):c.*883C>T rs370080063 0.00001
NM_001113525.2(ZNF276):c.1475-56C>T rs886052478 0.00001
NM_001113525.2(ZNF276):c.1575G>A (p.Gln525=) rs779094661 0.00001
NM_001127671.2(LIFR):c.*2437A>G rs925267459 0.00001
NM_001127671.2(LIFR):c.*2585T>A rs1284035304 0.00001
NM_001127671.2(LIFR):c.*2825G>A rs952292818 0.00001
NM_001127671.2(LIFR):c.*3085G>T rs552475268 0.00001
NM_001127671.2(LIFR):c.*3162T>G rs1743825125 0.00001
NM_001127671.2(LIFR):c.*3563T>C rs1219109807 0.00001
NM_001127671.2(LIFR):c.*3852C>G rs1238336955 0.00001
NM_001127671.2(LIFR):c.*415A>G rs1579990996 0.00001
NM_001127671.2(LIFR):c.*4264T>G rs886060615 0.00001
NM_001127671.2(LIFR):c.*4438A>G rs886060613 0.00001
NM_001127671.2(LIFR):c.*4799A>G rs1392993911 0.00001
NM_001127671.2(LIFR):c.*5421A>G rs1393635624 0.00001
NM_001127671.2(LIFR):c.*6483C>A rs771210595 0.00001
NM_001127671.2(LIFR):c.*987C>T rs886060622 0.00001
NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn) rs753566378 0.00001
NM_001127671.2(LIFR):c.1194A>G (p.Gln398=) rs1192463698 0.00001
NM_001127671.2(LIFR):c.1304C>T (p.Thr435Ile) rs764228036 0.00001
NM_001127671.2(LIFR):c.1439G>A (p.Arg480Gln) rs781727104 0.00001
NM_001127671.2(LIFR):c.1522C>T (p.Arg508Trp) rs769058491 0.00001
NM_001127671.2(LIFR):c.1776C>G (p.His592Gln) rs762360996 0.00001
NM_001127671.2(LIFR):c.2001G>A (p.Ser667=) rs1195064309 0.00001
NM_001127671.2(LIFR):c.2051C>G (p.Thr684Ser) rs767530602 0.00001
NM_001127671.2(LIFR):c.2066-14T>C rs749796645 0.00001
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) rs767895692 0.00001
NM_001127671.2(LIFR):c.2480T>C (p.Val827Ala) rs746744753 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu) rs775530423 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) rs771905123 0.00001
NM_001128225.3(SLC39A13):c.1108G>A (p.Val370Met) rs772789507 0.00001
NM_001128225.3(SLC39A13):c.1116A>G (p.Ter372=) rs762617893 0.00001
NM_001128225.3(SLC39A13):c.113G>A (p.Arg38Gln) rs770839268 0.00001
NM_001128225.3(SLC39A13):c.128C>T (p.Ala43Val) rs762413647 0.00001
NM_001128225.3(SLC39A13):c.140G>A (p.Arg47His) rs754538699 0.00001
NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser) rs563652715 0.00001
NM_001128225.3(SLC39A13):c.184G>A (p.Gly62Arg) rs200726045 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001128225.3(SLC39A13):c.234G>A (p.Val78=) rs140298838 0.00001
NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile) rs1317018795 0.00001
NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys) rs369854018 0.00001
NM_001128225.3(SLC39A13):c.313C>T (p.Arg105Cys) rs374468349 0.00001
NM_001128225.3(SLC39A13):c.31A>G (p.Met11Val) rs768592866 0.00001
NM_001128225.3(SLC39A13):c.355G>T (p.Gly119Cys) rs892859231 0.00001
NM_001128225.3(SLC39A13):c.392C>T (p.Ala131Val) rs370161381 0.00001
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter) rs752159748 0.00001
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val) rs2096004287 0.00001
NM_001128225.3(SLC39A13):c.572C>T (p.Ala191Val) rs200688736 0.00001
NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser) rs746264976 0.00001
NM_001128225.3(SLC39A13):c.589T>C (p.Cys197Arg) rs779407804 0.00001
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704 0.00001
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969 0.00001
NM_001128225.3(SLC39A13):c.817G>A (p.Gly273Ser) rs199989846 0.00001
NM_001128225.3(SLC39A13):c.823G>C (p.Asp275His) rs1484874346 0.00001
NM_001128225.3(SLC39A13):c.850C>G (p.Leu284Val) rs1300393650 0.00001
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val) rs1407619087 0.00001
NM_001130144.3(LTBP3):c.1025C>T (p.Pro342Leu) rs1856674742 0.00001
NM_001130144.3(LTBP3):c.1191C>A (p.Asp397Glu) rs1856644303 0.00001
NM_001130144.3(LTBP3):c.1196C>T (p.Pro399Leu) rs764981765 0.00001
NM_001130144.3(LTBP3):c.136G>T (p.Ala46Ser) rs766420288 0.00001
NM_001130144.3(LTBP3):c.144G>C (p.Glu48Asp) rs559277223 0.00001
NM_001130144.3(LTBP3):c.1495C>G (p.Gln499Glu) rs1274704456 0.00001
NM_001130144.3(LTBP3):c.160G>A (p.Gly54Ser) rs368975107 0.00001
NM_001130144.3(LTBP3):c.1925A>G (p.His642Arg) rs968371027 0.00001
NM_001130144.3(LTBP3):c.1942C>A (p.Arg648Ser) rs763889449 0.00001
NM_001130144.3(LTBP3):c.1977G>T (p.Val659=) rs755306051 0.00001
NM_001130144.3(LTBP3):c.1993G>T (p.Ala665Ser) rs769389218 0.00001
NM_001130144.3(LTBP3):c.2004C>G (p.His668Gln) rs756791055 0.00001
NM_001130144.3(LTBP3):c.2055C>G (p.Cys685Trp) rs1208038518 0.00001
NM_001130144.3(LTBP3):c.2204G>A (p.Arg735His) rs757613107 0.00001
NM_001130144.3(LTBP3):c.2232C>A (p.Asp744Glu) rs1301932570 0.00001
NM_001130144.3(LTBP3):c.2272T>G (p.Trp758Gly) rs763648441 0.00001
NM_001130144.3(LTBP3):c.22G>A (p.Ala8Thr) rs1856868902 0.00001
NM_001130144.3(LTBP3):c.2455A>G (p.Arg819Gly) rs771624185 0.00001
NM_001130144.3(LTBP3):c.2533A>G (p.Asn845Asp) rs1181954332 0.00001
NM_001130144.3(LTBP3):c.2537G>A (p.Gly846Asp) rs769073809 0.00001
NM_001130144.3(LTBP3):c.2564G>C (p.Gly855Ala) rs937188963 0.00001
NM_001130144.3(LTBP3):c.2596+6G>A rs775117463 0.00001
NM_001130144.3(LTBP3):c.2728G>A (p.Val910Met) rs761462890 0.00001
NM_001130144.3(LTBP3):c.2854G>A (p.Asp952Asn) rs756826691 0.00001
NM_001130144.3(LTBP3):c.2975G>A (p.Arg992His) rs1407290844 0.00001
NM_001130144.3(LTBP3):c.311C>T (p.Thr104Met) rs1442604022 0.00001
NM_001130144.3(LTBP3):c.3139C>T (p.Arg1047Trp) rs759123551 0.00001
NM_001130144.3(LTBP3):c.3208C>T (p.Pro1070Ser) rs1392991917 0.00001
NM_001130144.3(LTBP3):c.3244G>A (p.Asp1082Asn) rs1165193375 0.00001
NM_001130144.3(LTBP3):c.3277C>T (p.Arg1093Cys) rs1203529790 0.00001
NM_001130144.3(LTBP3):c.3292G>A (p.Val1098Ile) rs1005265947 0.00001
NM_001130144.3(LTBP3):c.3392C>T (p.Ala1131Val) rs1338933893 0.00001
NM_001130144.3(LTBP3):c.3478G>A (p.Asp1160Asn) rs762718826 0.00001
NM_001130144.3(LTBP3):c.3628+5G>A rs908115215 0.00001
NM_001130144.3(LTBP3):c.3629-3C>T rs1246072463 0.00001
NM_001130144.3(LTBP3):c.3674G>A (p.Ser1225Asn) rs141017996 0.00001
NM_001130144.3(LTBP3):c.3676G>A (p.Gly1226Ser) rs1445499882 0.00001
NM_001130144.3(LTBP3):c.431C>T (p.Ala144Val) rs746544643 0.00001
NM_001130144.3(LTBP3):c.439G>A (p.Ala147Thr) rs771952262 0.00001
NM_001130144.3(LTBP3):c.449G>T (p.Gly150Val) rs1856727052 0.00001
NM_001130144.3(LTBP3):c.467C>G (p.Pro156Arg) rs759947049 0.00001
NM_001130144.3(LTBP3):c.674C>T (p.Pro225Leu) rs773254858 0.00001
NM_001130144.3(LTBP3):c.712G>C (p.Ala238Pro) rs1241393064 0.00001
NM_001159773.2(CANT1):c.*1050C>T rs1461824358 0.00001
NM_001159773.2(CANT1):c.*1479C>A rs886053520 0.00001
NM_001159773.2(CANT1):c.*1484C>A rs886053519 0.00001
NM_001159773.2(CANT1):c.*223C>T rs886053524 0.00001
NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly) rs886053527 0.00001
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) rs773215035 0.00001
NM_001159773.2(CANT1):c.809G>A (p.Arg270Gln) rs764240311 0.00001
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) rs569632479 0.00001
NM_001174147.2(LMX1B):c.*1493C>T rs908912434 0.00001
NM_001174147.2(LMX1B):c.*1713C>T rs886063432 0.00001
NM_001174147.2(LMX1B):c.*1899G>A rs756806649 0.00001
NM_001174147.2(LMX1B):c.*286C>T rs1050105993 0.00001
NM_001174147.2(LMX1B):c.*3196G>A rs1386261176 0.00001
NM_001174147.2(LMX1B):c.*3379C>T rs886063439 0.00001
NM_001174147.2(LMX1B):c.*3642G>T rs886063443 0.00001
NM_001174147.2(LMX1B):c.*401G>A rs548738973 0.00001
NM_001174147.2(LMX1B):c.*4338G>C rs1035726771 0.00001
NM_001174147.2(LMX1B):c.*4570A>G rs886063449 0.00001
NM_001174147.2(LMX1B):c.-12G>T rs563572406 0.00001
NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser) rs771784052 0.00001
NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr) rs761796969 0.00001
NM_001174147.2(LMX1B):c.520G>A (p.Asp174Asn) rs1766593692 0.00001
NM_001174147.2(LMX1B):c.559G>A (p.Val187Met) rs765969991 0.00001
NM_001174147.2(LMX1B):c.637G>A (p.Gly213Arg) rs1472509996 0.00001
NM_001174147.2(LMX1B):c.720C>T (p.Val240=) rs1203103557 0.00001
NM_001203.3(BMPR1B):c.1081A>G (p.Thr361Ala) rs1179983257 0.00001
NM_001203.3(BMPR1B):c.1100C>G (p.Pro367Arg) rs1284054241 0.00001
NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val) rs1464900722 0.00001
NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys) rs561948192 0.00001
NM_001203.3(BMPR1B):c.370C>T (p.His124Tyr) rs759803347 0.00001
NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr) rs561117066 0.00001
NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val) rs778170724 0.00001
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) rs200198618 0.00001
NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) rs757312834 0.00001
NM_001235.5(SERPINH1):c.*531C>G rs374355309 0.00001
NM_001235.5(SERPINH1):c.*536C>A rs1054819973 0.00001
NM_001235.5(SERPINH1):c.1016G>A (p.Arg339His) rs535510332 0.00001
NM_001235.5(SERPINH1):c.1042C>T (p.Leu348=) rs757716271 0.00001
NM_001235.5(SERPINH1):c.1214G>A (p.Arg405His) rs781125078 0.00001
NM_001235.5(SERPINH1):c.139A>G (p.Ser47Gly) rs1251272276 0.00001
NM_001235.5(SERPINH1):c.160T>C (p.Leu54=) rs540061657 0.00001
NM_001235.5(SERPINH1):c.58G>A (p.Glu20Lys) rs200397594 0.00001
NM_001235.5(SERPINH1):c.807C>T (p.Ile269=) rs773342436 0.00001
NM_001235.5(SERPINH1):c.843T>C (p.Leu281=) rs544719966 0.00001
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 0.00001
NM_001271938.2(MEGF8):c.1819C>T (p.Arg607Cys) rs747026334 0.00001
NM_001271938.2(MEGF8):c.1942C>T (p.Arg648Cys) rs761382753 0.00001
NM_001271938.2(MEGF8):c.2390G>A (p.Arg797Gln) rs368683081 0.00001
NM_001271938.2(MEGF8):c.2477G>A (p.Arg826Gln) rs775071124 0.00001
NM_001271938.2(MEGF8):c.27G>C (p.Met9Ile) rs1029623509 0.00001
NM_001271938.2(MEGF8):c.284G>A (p.Arg95Gln) rs758585947 0.00001
NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp) rs1374279391 0.00001
NM_001271938.2(MEGF8):c.334G>A (p.Glu112Lys) rs763111888 0.00001
NM_001271938.2(MEGF8):c.3472C>A (p.Arg1158Ser) rs977777127 0.00001
NM_001271938.2(MEGF8):c.3520C>T (p.Arg1174Trp) rs892173452 0.00001
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys) rs377750684 0.00001
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) rs1229026252 0.00001
NM_001271938.2(MEGF8):c.4333C>T (p.Arg1445Cys) rs374942873 0.00001
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His) rs749669318 0.00001
NM_001271938.2(MEGF8):c.4640G>A (p.Arg1547Gln) rs372798483 0.00001
NM_001271938.2(MEGF8):c.4732C>T (p.Arg1578Cys) rs774288940 0.00001
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly) rs764246520 0.00001
NM_001271938.2(MEGF8):c.5422G>A (p.Glu1808Lys) rs771890594 0.00001
NM_001271938.2(MEGF8):c.5434G>A (p.Asp1812Asn) rs747286989 0.00001
NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu) rs766493787 0.00001
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780 0.00001
NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) rs1471300485 0.00001
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716 0.00001
NM_001271938.2(MEGF8):c.6739C>T (p.Arg2247Cys) rs1438199181 0.00001
NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp) rs769584545 0.00001
NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val) rs773102301 0.00001
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu) rs749183655 0.00001
NM_001271938.2(MEGF8):c.772G>A (p.Val258Ile) rs375853163 0.00001
NM_001271938.2(MEGF8):c.8097G>A (p.Lys2699=) rs1461151357 0.00001
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser) rs779537526 0.00001
NM_001271938.2(MEGF8):c.8486C>T (p.Ala2829Val) rs975858414 0.00001
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser) rs753588973 0.00001
NM_001271938.2(MEGF8):c.889G>A (p.Glu297Lys) rs1298003744 0.00001
NM_001271938.2(MEGF8):c.899A>G (p.Asp300Gly) rs535520607 0.00001
NM_001278689.2(EOGT):c.1153-3C>T rs1465028816 0.00001
NM_001278689.2(EOGT):c.308G>T (p.Gly103Val) rs778771949 0.00001
NM_001278689.2(EOGT):c.548T>A (p.Ile183Asn) rs773091065 0.00001
NM_001278689.2(EOGT):c.730G>T (p.Val244Phe) rs1386656563 0.00001
NM_001330677.2(TBX15):c.1404G>C (p.Gln468His) rs750877260 0.00001
NM_001353214.3(DYM):c.-238G>T rs886053850 0.00001
NM_001353214.3(DYM):c.899C>T (p.Ala300Val) rs781028696 0.00001
NM_001361.5(DHODH):c.*64C>G rs886052280 0.00001
NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala) rs988000600 0.00001
NM_001361.5(DHODH):c.22-11C>T rs770515591 0.00001
NM_001361.5(DHODH):c.546G>T (p.Gly182=) rs954515669 0.00001
NM_001361.5(DHODH):c.666C>G (p.Ser222Arg) rs528598713 0.00001
NM_001361.5(DHODH):c.681C>T (p.Ala227=) rs776932166 0.00001
NM_001361.5(DHODH):c.807T>A (p.Ser269Arg) rs886052277 0.00001
NM_001361.5(DHODH):c.820T>C (p.Leu274=) rs886052278 0.00001
NM_001374353.1(GLI2):c.1183-54C>T rs1682377263 0.00001
NM_001374353.1(GLI2):c.1253A>G (p.Tyr418Cys) rs759585885 0.00001
NM_001374353.1(GLI2):c.1486G>T (p.Ala496Ser) rs774591307 0.00001
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly) rs561810561 0.00001
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser) rs531807595 0.00001
NM_001374353.1(GLI2):c.257C>T (p.Pro86Leu) rs757479194 0.00001
NM_001374353.1(GLI2):c.2669G>A (p.Gly890Asp) rs1479419735 0.00001
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) rs886054813 0.00001
NM_001374353.1(GLI2):c.2783C>T (p.Thr928Ile) rs1004685361 0.00001
NM_001374353.1(GLI2):c.2957A>C (p.Asp986Ala) rs930268229 0.00001
NM_001374353.1(GLI2):c.3518G>T (p.Gly1173Val) rs774621554 0.00001
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg) rs377503122 0.00001
NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His) rs370407550 0.00001
NM_001374353.1(GLI2):c.4075G>A (p.Glu1359Lys) rs768928173 0.00001
NM_001374353.1(GLI2):c.4093C>T (p.Arg1365Cys) rs761959609 0.00001
NM_001374353.1(GLI2):c.4122G>C (p.Gln1374His) rs1489027653 0.00001
NM_001374353.1(GLI2):c.841C>A (p.Leu281Ile) rs1558923649 0.00001
NM_001379081.2(FREM1):c.2170C>T (p.His724Tyr) rs755724341 0.00001
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val) rs371148891 0.00001
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala) rs761348644 0.00001
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=) rs745782166 0.00001
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) rs886043843 0.00001
NM_001379081.2(FREM1):c.4477G>A (p.Gly1493Arg) rs536683402 0.00001
NM_001379081.2(FREM1):c.5072A>G (p.His1691Arg) rs755062740 0.00001
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys) rs762799389 0.00001
NM_001379081.2(FREM1):c.544C>G (p.Leu182Val) rs1230078063 0.00001
NM_001379291.1(BRD4):c.1507T>A (p.Ser503Thr) rs1279388211 0.00001
NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met) rs1046843624 0.00001
NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys) rs1342297170 0.00001
NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn) rs756811653 0.00001
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096 0.00001
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile) rs1490492363 0.00001
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu) rs1287231108 0.00001
NM_001384732.1(CPLANE1):c.2824A>G (p.Met942Val) rs918958290 0.00001
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr) rs1160747089 0.00001
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser) rs943993886 0.00001
NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala) rs776423792 0.00001
NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His) rs1789225309 0.00001
NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg) rs747382965 0.00001
NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile) rs1404949478 0.00001
NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg) rs753392667 0.00001
NM_001384732.1(CPLANE1):c.4576G>T (p.Asp1526Tyr) rs1363054900 0.00001
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro) rs536461045 0.00001
NM_001384732.1(CPLANE1):c.5114T>C (p.Ile1705Thr) rs1160277331 0.00001
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro) rs781211084 0.00001
NM_001384732.1(CPLANE1):c.5327G>A (p.Arg1776His) rs757385488 0.00001
NM_001384732.1(CPLANE1):c.5737+15A>G rs1352836895 0.00001
NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln) rs1042774343 0.00001
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850 0.00001
NM_001384732.1(CPLANE1):c.5978+4A>G rs748763785 0.00001
NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=) rs938358328 0.00001
NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile) rs773299420 0.00001
NM_001384732.1(CPLANE1):c.6186C>A (p.Asn2062Lys) rs755471609 0.00001
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp) rs749862200 0.00001
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp) rs543556323 0.00001
NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe) rs572837877 0.00001
NM_001384732.1(CPLANE1):c.6647C>G (p.Ala2216Gly) rs749403465 0.00001
NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn) rs752372376 0.00001
NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu) rs777757781 0.00001
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln) rs183942272 0.00001
NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn) rs535480596 0.00001
NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys) rs771614298 0.00001
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val) rs774074728 0.00001
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=) rs1264949337 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile) rs767189816 0.00001
NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg) rs768570313 0.00001
NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys) rs372215544 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001429.4(EP300):c.1303G>A (p.Val435Ile) rs779573838 0.00001
NM_001429.4(EP300):c.1508T>C (p.Met503Thr) rs1185038602 0.00001
NM_001429.4(EP300):c.169A>G (p.Asn57Asp) rs1186074560 0.00001
NM_001429.4(EP300):c.2078T>C (p.Met693Thr) rs199636064 0.00001
NM_001429.4(EP300):c.302G>A (p.Gly101Asp) rs879722959 0.00001
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188 0.00001
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359 0.00001
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu) rs587778255 0.00001
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470 0.00001
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val) rs1448116681 0.00001
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser) rs1301322622 0.00001
NM_001429.4(EP300):c.5966T>G (p.Met1989Arg) rs760421892 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001440.4(EXTL3):c.2207A>G (p.Glu736Gly) rs776131097 0.00001
NM_001457.4(FLNB):c.3350A>G (p.His1117Arg) rs779765790 0.00001
NM_001457.4(FLNB):c.3616A>G (p.Met1206Val) rs756396172 0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) rs761698437 0.00001
NM_001457.4(FLNB):c.871G>A (p.Val291Met) rs751747906 0.00001
NM_001711.6(BGN):c.955G>A (p.Asp319Asn) rs933381952 0.00001
NM_001793.5(CDH3):c.-282G>T rs886052226 0.00001
NM_001793.6(CDH3):c.1050G>A (p.Thr350=) rs551272419 0.00001
NM_001793.6(CDH3):c.1119C>T (p.Asp373=) rs995548981 0.00001
NM_001793.6(CDH3):c.1199C>G (p.Ala400Gly) rs112133581 0.00001
NM_001793.6(CDH3):c.1284G>A (p.Val428=) rs911987634 0.00001
NM_001793.6(CDH3):c.1848C>T (p.Asp616=) rs768811436 0.00001
NM_001793.6(CDH3):c.1932C>T (p.Val644=) rs750805163 0.00001
NM_001793.6(CDH3):c.2061C>T (p.Leu687=) rs1567457224 0.00001
NM_001793.6(CDH3):c.2340C>T (p.Phe780=) rs1425381774 0.00001
NM_001793.6(CDH3):c.2444G>A (p.Arg815His) rs557740168 0.00001
NM_001793.6(CDH3):c.324T>C (p.Asp108=) rs780231573 0.00001
NM_001793.6(CDH3):c.46-11C>T rs1191322448 0.00001
NM_001793.6(CDH3):c.475G>A (p.Ala159Thr) rs773525226 0.00001
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp) rs199812197 0.00001
NM_001793.6(CDH3):c.886C>G (p.Leu296Val) rs565345878 0.00001
NM_001844.5(COL2A1):c.-15G>T rs886049450 0.00001
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858 0.00001
NM_001844.5(COL2A1):c.1941+18C>T rs753819738 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.2410-11C>T rs886049447 0.00001
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val) rs762619684 0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) rs948633441 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) rs371635111 0.00001
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) rs374156023 0.00001
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) rs779252535 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) rs202105427 0.00001
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val) rs928430270 0.00001
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) rs764487245 0.00001
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) rs1470645150 0.00001
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) rs1380248932 0.00001
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser) rs774610828 0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) rs578034223 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001852.4(COL9A2):c.*38G>A rs547105794 0.00001
NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr) rs1444649342 0.00001
NM_001852.4(COL9A2):c.1609C>T (p.Leu537=) rs1057515453 0.00001
NM_001852.4(COL9A2):c.417+12C>T rs371485028 0.00001
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala) rs1202213496 0.00001
NM_001852.4(COL9A2):c.820G>A (p.Gly274Ser) rs1443766012 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001852.4(COL9A2):c.900G>C (p.Thr300=) rs752584833 0.00001
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) rs948698664 0.00001
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) rs1422176468 0.00001
NM_001854.4(COL11A1):c.*1230G>A rs1343503479 0.00001
NM_001854.4(COL11A1):c.*1301T>C rs1282780058 0.00001
NM_001854.4(COL11A1):c.*240A>G rs886044972 0.00001
NM_001854.4(COL11A1):c.*715A>G rs886044971 0.00001
NM_001854.4(COL11A1):c.-222G>T rs1055842402 0.00001
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278 0.00001
NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu) rs371793829 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239 0.00001
NM_001854.4(COL11A1):c.3568T>C (p.Phe1190Leu) rs1377819809 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu) rs769308801 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr) rs1651478594 0.00001
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) rs1057521422 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001854.4(COL11A1):c.511G>A (p.Val171Met) rs751182532 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala) rs778869762 0.00001
NM_001854.4(COL11A1):c.924A>G (p.Glu308=) rs1010235940 0.00001
NM_001854.4(COL11A1):c.926A>T (p.Tyr309Phe) rs766508371 0.00001
NM_002010.3(FGF9):c.*121A>C rs1168164095 0.00001
NM_002010.3(FGF9):c.*1847G>T rs577880272 0.00001
NM_002010.3(FGF9):c.*2586A>G rs886050063 0.00001
NM_002010.3(FGF9):c.*2594G>A rs919808404 0.00001
NM_002010.3(FGF9):c.*2739G>A rs938753704 0.00001
NM_002010.3(FGF9):c.*380C>G rs886050051 0.00001
NM_002010.3(FGF9):c.*676G>A rs1872564551 0.00001
NM_002010.3(FGF9):c.-116dup rs1555223891 0.00001
NM_002010.3(FGF9):c.-45C>T rs778769503 0.00001
NM_002010.3(FGF9):c.-829C>T rs1871749772 0.00001
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.1090G>A (p.Asp364Asn) rs771711120 0.00001
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) rs777314081 0.00001
NM_002335.4(LRP5):c.130C>T (p.Arg44Trp) rs371690402 0.00001
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met) rs370901051 0.00001
NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser) rs771268909 0.00001
NM_002335.4(LRP5):c.1393G>A (p.Ala465Thr) rs755886863 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002335.4(LRP5):c.1484G>A (p.Arg495His) rs200409162 0.00001
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys) rs745350421 0.00001
NM_002335.4(LRP5):c.1910T>C (p.Met637Thr) rs1045994595 0.00001
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr) rs747131775 0.00001
NM_002335.4(LRP5):c.2020G>A (p.Val674Ile) rs543279405 0.00001
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala) rs1339222045 0.00001
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) rs751720886 0.00001
NM_002335.4(LRP5):c.220A>G (p.Lys74Glu) rs765603774 0.00001
NM_002335.4(LRP5):c.2237G>A (p.Arg746Gln) rs766548006 0.00001
NM_002335.4(LRP5):c.2413C>T (p.Arg805Trp) rs765952535 0.00001
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) rs758364834 0.00001
NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser) rs776947784 0.00001
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln) rs774814837 0.00001
NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn) rs768364811 0.00001
NM_002335.4(LRP5):c.2764G>A (p.Gly922Ser) rs773895575 0.00001
NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser) rs771724060 0.00001
NM_002335.4(LRP5):c.3030C>G (p.Pro1010=) rs1334335601 0.00001
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met) rs1311935185 0.00001
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile) rs577519439 0.00001
NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val) rs761682970 0.00001
NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln) rs371323193 0.00001
NM_002335.4(LRP5):c.3280G>A (p.Glu1094Lys) rs1433868957 0.00001
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) rs770787447 0.00001
NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr) rs776839535 0.00001
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu) rs752483392 0.00001
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala) rs1260043027 0.00001
NM_002335.4(LRP5):c.3733G>A (p.Val1245Met) rs1215728276 0.00001
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His) rs145293239 0.00001
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) rs370347973 0.00001
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln) rs760090713 0.00001
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His) rs780957124 0.00001
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser) rs747638441 0.00001
NM_002335.4(LRP5):c.4066G>A (p.Asp1356Asn) rs1257556169 0.00001
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile) rs745582449 0.00001
NM_002335.4(LRP5):c.4227C>T (p.Arg1409=) rs536928726 0.00001
NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg) rs778832210 0.00001
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) rs368198391 0.00001
NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser) rs778882996 0.00001
NM_002335.4(LRP5):c.4420G>A (p.Asp1474Asn) rs959633003 0.00001
NM_002335.4(LRP5):c.4518G>A (p.Thr1506=) rs764288902 0.00001
NM_002335.4(LRP5):c.4550A>G (p.Tyr1517Cys) rs201030241 0.00001
NM_002335.4(LRP5):c.4561A>G (p.Ile1521Val) rs1371991892 0.00001
NM_002335.4(LRP5):c.4586+3A>G rs374747007 0.00001
NM_002335.4(LRP5):c.4609G>A (p.Ala1537Thr) rs144376510 0.00001
NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala) rs748088266 0.00001
NM_002335.4(LRP5):c.4733C>T (p.Thr1578Met) rs974175023 0.00001
NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val) rs767157733 0.00001
NM_002335.4(LRP5):c.739G>A (p.Gly247Arg) rs773226526 0.00001
NM_002381.5(MATN3):c.*312T>A rs1301097731 0.00001
NM_002381.5(MATN3):c.*44C>G rs751281546 0.00001
NM_002381.5(MATN3):c.*749T>G rs1169276721 0.00001
NM_002381.5(MATN3):c.*74G>A rs1483047682 0.00001
NM_002381.5(MATN3):c.*989C>G rs1672769474 0.00001
NM_002381.5(MATN3):c.*996A>G rs1333953203 0.00001
NM_002381.5(MATN3):c.1065T>C (p.Gly355=) rs745766346 0.00001
NM_002381.5(MATN3):c.1085T>C (p.Ile362Thr) rs774005769 0.00001
NM_002381.5(MATN3):c.1406-8C>T rs778345843 0.00001
NM_002381.5(MATN3):c.150C>T (p.Arg50=) rs1422262650 0.00001
NM_002381.5(MATN3):c.180G>T (p.Ala60=) rs1286340022 0.00001
NM_002381.5(MATN3):c.514G>A (p.Glu172Lys) rs977737529 0.00001
NM_002381.5(MATN3):c.524C>A (p.Thr175Lys) rs1673097664 0.00001
NM_002381.5(MATN3):c.659T>C (p.Val220Ala) rs187943382 0.00001
NM_002381.5(MATN3):c.822G>A (p.Gln274=) rs1401043626 0.00001
NM_002427.4(MMP13):c.*1219A>C rs188511209 0.00001
NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly) rs145425594 0.00001
NM_002427.4(MMP13):c.1101C>G (p.Pro367=) rs781949882 0.00001
NM_002427.4(MMP13):c.1315+12C>T rs781936267 0.00001
NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) rs1555017407 0.00001
NM_002449.5(MSX2):c.*644C>T rs970685736 0.00001
NM_002449.5(MSX2):c.635C>G (p.Ala212Gly) rs775062909 0.00001
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala) rs1448692172 0.00001
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu) rs1430956453 0.00001
NM_002615.7(SERPINF1):c.156C>T (p.Asn52=) rs750677344 0.00001
NM_002615.7(SERPINF1):c.336G>T (p.Leu112Phe) rs749212971 0.00001
NM_002615.7(SERPINF1):c.426C>T (p.Ile142=) rs747222233 0.00001
NM_002615.7(SERPINF1):c.609C>T (p.Ile203=) rs765207911 0.00001
NM_002615.7(SERPINF1):c.835C>T (p.Pro279Ser) rs753808651 0.00001
NM_002615.7(SERPINF1):c.871G>A (p.Glu291Lys) rs1465650682 0.00001
NM_002734.5(PRKAR1A):c.*526G>A rs886053308 0.00001
NM_002734.5(PRKAR1A):c.*535T>G rs1329748321 0.00001
NM_002734.5(PRKAR1A):c.-11C>T rs1021510770 0.00001
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566 0.00001
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) rs1467886544 0.00001
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) rs746113372 0.00001
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys) rs1177674637 0.00001
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372 0.00001
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_003036.4(SKI):c.1006A>G (p.Thr336Ala) rs1347876005 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys) rs749507746 0.00001
NM_003036.4(SKI):c.116C>T (p.Ser39Leu) rs746485528 0.00001
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu) rs776248526 0.00001
NM_003036.4(SKI):c.1243G>A (p.Val415Met) rs770481744 0.00001
NM_003036.4(SKI):c.1247C>T (p.Ala416Val) rs775044622 0.00001
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly) rs368739670 0.00001
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu) rs768068601 0.00001
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys) rs747693633 0.00001
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr) rs371772366 0.00001
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala) rs1057518494 0.00001
NM_003036.4(SKI):c.1474+4C>T rs780930093 0.00001
NM_003036.4(SKI):c.149A>T (p.Glu50Val) rs1158589836 0.00001
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) rs1057520161 0.00001
NM_003036.4(SKI):c.1548G>A (p.Pro516=) rs1239990628 0.00001
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro) rs1161295504 0.00001
NM_003036.4(SKI):c.1700T>C (p.Val567Ala) rs887731777 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.173C>G (p.Ala58Gly) rs1638564960 0.00001
NM_003036.4(SKI):c.1767+6C>T rs780191562 0.00001
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu) rs761706108 0.00001
NM_003036.4(SKI):c.2014G>A (p.Val672Met) rs1339249855 0.00001
NM_003036.4(SKI):c.2026C>T (p.His676Tyr) rs1376096484 0.00001
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr) rs1254335229 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.2057C>A (p.Ala686Asp) rs1216955747 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys) rs1341756519 0.00001
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln) rs1038419071 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728 0.00001
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139 0.00001
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577 0.00001
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp) rs1381348497 0.00001
NM_003036.4(SKI):c.235A>G (p.Ile79Val) rs1638568678 0.00001
NM_003036.4(SKI):c.340G>A (p.Val114Met) rs1165144413 0.00001
NM_003036.4(SKI):c.435G>C (p.Glu145Asp) rs1221007732 0.00001
NM_003036.4(SKI):c.45G>A (p.Pro15=) rs762947696 0.00001
NM_003036.4(SKI):c.461C>T (p.Thr154Met) rs1275592565 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586 0.00001
NM_003036.4(SKI):c.562G>A (p.Ala188Thr) rs377092419 0.00001
NM_003036.4(SKI):c.795G>C (p.Lys265Asn) rs1457407953 0.00001
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483 0.00001
NM_003036.4(SKI):c.923A>G (p.Lys308Arg) rs1276404635 0.00001
NM_003036.4(SKI):c.925G>A (p.Glu309Lys) rs1553190080 0.00001
NM_003036.4(SKI):c.942C>T (p.Gly314=) rs1245622958 0.00001
NM_003036.4(SKI):c.974C>T (p.Ser325Phe) rs779414606 0.00001
NM_003036.4(SKI):c.986C>T (p.Pro329Leu) rs1407167491 0.00001
NM_003052.5(SLC34A1):c.*212G>T rs749467217 0.00001
NM_003052.5(SLC34A1):c.*392A>G rs886060470 0.00001
NM_003052.5(SLC34A1):c.*505C>T rs1434332460 0.00001
NM_003052.5(SLC34A1):c.*60G>A rs886060467 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.110-6C>T rs773115741 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) rs758409228 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_003599.4(SUPT3H):c.101+36514G>A rs886061492 0.00001
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) rs774888576 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_003722.5(TP63):c.*232T>C rs569527175 0.00001
NM_003722.5(TP63):c.*382A>G rs886058227 0.00001
NM_003722.5(TP63):c.*802G>A rs1202255721 0.00001
NM_003722.5(TP63):c.-65C>T rs886058220 0.00001
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.1523C>T (p.Thr508Ile) rs1487186623 0.00001
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) rs769778189 0.00001
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) rs565094952 0.00001
NM_003722.5(TP63):c.1644C>T (p.Ser548=) rs763019843 0.00001
NM_003722.5(TP63):c.1825G>A (p.Glu609Lys) rs142762485 0.00001
NM_003722.5(TP63):c.2003G>A (p.Arg668His) rs758317410 0.00001
NM_003722.5(TP63):c.290G>A (p.Arg97His) rs752080701 0.00001
NM_003722.5(TP63):c.409G>C (p.Asp137His) rs762935508 0.00001
NM_003722.5(TP63):c.61C>T (p.Arg21Cys) rs1452651956 0.00001
NM_003722.5(TP63):c.62G>A (p.Arg21His) rs766583971 0.00001
NM_003995.4(NPR2):c.*2C>T rs778618798 0.00001
NM_003995.4(NPR2):c.1123+5T>A rs747319842 0.00001
NM_003995.4(NPR2):c.1198C>G (p.Leu400Val) rs758564951 0.00001
NM_003995.4(NPR2):c.1368G>A (p.Leu456=) rs1480587869 0.00001
NM_003995.4(NPR2):c.1437-3C>T rs1181538946 0.00001
NM_003995.4(NPR2):c.1478G>A (p.Arg493His) rs762074063 0.00001
NM_003995.4(NPR2):c.1684C>T (p.Arg562Trp) rs566096931 0.00001
NM_003995.4(NPR2):c.1887+11C>G rs761623564 0.00001
NM_003995.4(NPR2):c.193C>T (p.Arg65Trp) rs906456007 0.00001
NM_003995.4(NPR2):c.2150T>C (p.Ile717Thr) rs760946888 0.00001
NM_003995.4(NPR2):c.2158C>T (p.Arg720Cys) rs1319830472 0.00001
NM_003995.4(NPR2):c.2246G>A (p.Arg749Gln) rs567992526 0.00001
NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn) rs114207425 0.00001
NM_003995.4(NPR2):c.2261G>A (p.Arg754Gln) rs763488261 0.00001
NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp) rs1303913631 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_003995.4(NPR2):c.2337T>C (p.Phe779=) rs115369552 0.00001
NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp) rs771399009 0.00001
NM_003995.4(NPR2):c.2363G>A (p.Arg788His) rs764963912 0.00001
NM_003995.4(NPR2):c.2429A>G (p.Asn810Ser) rs764876586 0.00001
NM_003995.4(NPR2):c.2455C>T (p.Arg819Cys) rs766256429 0.00001
NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr) rs369313283 0.00001
NM_003995.4(NPR2):c.2762G>A (p.Arg921Gln) rs770276670 0.00001
NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys) rs781398693 0.00001
NM_003995.4(NPR2):c.3063G>C (p.Gly1021=) rs774392843 0.00001
NM_003995.4(NPR2):c.3078+16G>T rs760800240 0.00001
NM_003995.4(NPR2):c.312T>C (p.Pro104=) rs886063910 0.00001
NM_003995.4(NPR2):c.652C>T (p.Arg218Trp) rs746376766 0.00001
NM_003995.4(NPR2):c.701A>G (p.His234Arg) rs770808236 0.00001
NM_003995.4(NPR2):c.815G>A (p.Arg272Gln) rs752154441 0.00001
NM_003995.4(NPR2):c.853G>A (p.Ala285Thr) rs886063911 0.00001
NM_003995.4(NPR2):c.988-6C>A rs752732223 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004208.4(AIFM1):c.1770+12T>C rs781186692 0.00001
NM_004239.4(TRIP11):c.*1591G>T rs2056357809 0.00001
NM_004239.4(TRIP11):c.*312A>G rs565776732 0.00001
NM_004239.4(TRIP11):c.*840A>G rs368630607 0.00001
NM_004239.4(TRIP11):c.-255G>A rs886050911 0.00001
NM_004239.4(TRIP11):c.1255A>C (p.Lys419Gln) rs768332653 0.00001
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr) rs200567543 0.00001
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser) rs755311537 0.00001
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu) rs1479064739 0.00001
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781 0.00001
NM_004239.4(TRIP11):c.1663A>G (p.Lys555Glu) rs1036135729 0.00001
NM_004239.4(TRIP11):c.1897C>A (p.Gln633Lys) rs377170955 0.00001
NM_004239.4(TRIP11):c.2038G>A (p.Glu680Lys) rs1400419650 0.00001
NM_004239.4(TRIP11):c.2041A>G (p.Lys681Glu) rs774891720 0.00001
NM_004239.4(TRIP11):c.2075A>G (p.Gln692Arg) rs369502177 0.00001
NM_004239.4(TRIP11):c.2129T>C (p.Ile710Thr) rs751874296 0.00001
NM_004239.4(TRIP11):c.2276T>A (p.Leu759Gln) rs146746460 0.00001
NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln) rs749954388 0.00001
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly) rs1306336953 0.00001
NM_004239.4(TRIP11):c.3039A>C (p.Leu1013Phe) rs1425069965 0.00001
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn) rs1466692158 0.00001
NM_004239.4(TRIP11):c.3401T>C (p.Ile1134Thr) rs562038091 0.00001
NM_004239.4(TRIP11):c.3431C>T (p.Ser1144Phe) rs751017848 0.00001
NM_004239.4(TRIP11):c.3595G>A (p.Val1199Ile) rs553249131 0.00001
NM_004239.4(TRIP11):c.3631C>T (p.Arg1211Cys) rs760350739 0.00001
NM_004239.4(TRIP11):c.3797A>G (p.Asp1266Gly) rs1407130480 0.00001
NM_004239.4(TRIP11):c.392T>A (p.Val131Glu) rs778009285 0.00001
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn) rs775138686 0.00001
NM_004239.4(TRIP11):c.4073A>G (p.Glu1358Gly) rs777628142 0.00001
NM_004239.4(TRIP11):c.4182A>T (p.Glu1394Asp) rs771927850 0.00001
NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg) rs1407474606 0.00001
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) rs766014867 0.00001
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His) rs534500568 0.00001
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) rs370124193 0.00001
NM_004239.4(TRIP11):c.4805C>T (p.Ala1602Val) rs1012136976 0.00001
NM_004239.4(TRIP11):c.5034G>A (p.Met1678Ile) rs202047412 0.00001
NM_004239.4(TRIP11):c.5160G>A (p.Gln1720=) rs779414041 0.00001
NM_004239.4(TRIP11):c.5202A>T (p.Ser1734=) rs1290468454 0.00001
NM_004239.4(TRIP11):c.5434G>A (p.Val1812Ile) rs139141533 0.00001
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986 0.00001
NM_004239.4(TRIP11):c.5486C>T (p.Thr1829Ile) rs1256584749 0.00001
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409 0.00001
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=) rs764596712 0.00001
NM_004239.4(TRIP11):c.5720-5T>G rs189330326 0.00001
NM_004239.4(TRIP11):c.5729A>T (p.Glu1910Val) rs370052334 0.00001
NM_004239.4(TRIP11):c.5776C>T (p.Arg1926Cys) rs201962758 0.00001
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) rs748645116 0.00001
NM_004239.4(TRIP11):c.716T>C (p.Leu239Pro) rs1436524252 0.00001
NM_004239.4(TRIP11):c.823+4A>T rs778772980 0.00001
NM_004239.4(TRIP11):c.824-15G>C rs766724573 0.00001
NM_004239.4(TRIP11):c.911C>T (p.Ser304Phe) rs779061616 0.00001
NM_004239.4(TRIP11):c.998G>A (p.Arg333Lys) rs1459653860 0.00001
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp) rs1230495188 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
NM_004252.5(NHERF1):c.913A>G (p.Lys305Glu) rs938666218 0.00001
NM_004252.5(NHERF1):c.940A>G (p.Thr314Ala) rs1567826349 0.00001
NM_004260.4(RECQL4):c.1007C>T (p.Thr336Ile) rs1470222070 0.00001
NM_004260.4(RECQL4):c.1009G>C (p.Ala337Pro) rs1171953080 0.00001
NM_004260.4(RECQL4):c.1012C>T (p.Pro338Ser) rs754299237 0.00001
NM_004260.4(RECQL4):c.1021A>G (p.Ile341Val) rs1022453211 0.00001
NM_004260.4(RECQL4):c.1027C>T (p.Pro343Ser) rs1379758021 0.00001
NM_004260.4(RECQL4):c.1036G>A (p.Ala346Thr) rs770798229 0.00001
NM_004260.4(RECQL4):c.1037C>T (p.Ala346Val) rs746740293 0.00001
NM_004260.4(RECQL4):c.1039C>T (p.Arg347Cys) rs534507419 0.00001
NM_004260.4(RECQL4):c.1045G>A (p.Asp349Asn) rs1045634487 0.00001
NM_004260.4(RECQL4):c.1046A>G (p.Asp349Gly) rs566907631 0.00001
NM_004260.4(RECQL4):c.1055A>G (p.Asn352Ser) rs761136493 0.00001
NM_004260.4(RECQL4):c.1066C>T (p.Leu356Phe) rs1293545938 0.00001
NM_004260.4(RECQL4):c.1072A>G (p.Met358Val) rs371503929 0.00001
NM_004260.4(RECQL4):c.1084C>T (p.His362Tyr) rs1186265538 0.00001
NM_004260.4(RECQL4):c.1085A>G (p.His362Arg) rs1016687510 0.00001
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg) rs763114749 0.00001
NM_004260.4(RECQL4):c.1099C>T (p.Arg367Trp) rs531175632 0.00001
NM_004260.4(RECQL4):c.109G>A (p.Glu37Lys) rs1395545206 0.00001
NM_004260.4(RECQL4):c.1105C>T (p.Leu369Phe) rs999036216 0.00001
NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys) rs368979398 0.00001
NM_004260.4(RECQL4):c.1114A>G (p.Arg372Gly) rs1042662106 0.00001
NM_004260.4(RECQL4):c.1123C>T (p.Arg375Cys) rs746423729 0.00001
NM_004260.4(RECQL4):c.1127A>G (p.Lys376Arg) rs375459768 0.00001
NM_004260.4(RECQL4):c.1128G>C (p.Lys376Asn) rs764389677 0.00001
NM_004260.4(RECQL4):c.1129C>G (p.Gln377Glu) rs372521987 0.00001
NM_004260.4(RECQL4):c.1131G>A (p.Gln377=) rs911864123 0.00001
NM_004260.4(RECQL4):c.1150C>T (p.Arg384Trp) rs766026341 0.00001
NM_004260.4(RECQL4):c.1171G>C (p.Gly391Arg) rs749556633 0.00001
NM_004260.4(RECQL4):c.1187C>T (p.Thr396Ile) rs752564961 0.00001
NM_004260.4(RECQL4):c.1199A>C (p.Lys400Thr) rs1489838661 0.00001
NM_004260.4(RECQL4):c.1208G>A (p.Cys403Tyr) rs753593981 0.00001
NM_004260.4(RECQL4):c.1214T>C (p.Leu405Pro) rs747571431 0.00001
NM_004260.4(RECQL4):c.1240G>T (p.Ala414Ser) rs1188265182 0.00001
NM_004260.4(RECQL4):c.1250C>T (p.Pro417Leu) rs1258987986 0.00001
NM_004260.4(RECQL4):c.1258+3G>A rs748155891 0.00001
NM_004260.4(RECQL4):c.125A>G (p.Tyr42Cys) rs1416508252 0.00001
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn) rs765611938 0.00001
NM_004260.4(RECQL4):c.128G>C (p.Arg43Pro) rs1169021603 0.00001
NM_004260.4(RECQL4):c.1292A>G (p.Glu431Gly) rs1342271031 0.00001
NM_004260.4(RECQL4):c.1300G>T (p.Val434Phe) rs761938967 0.00001
NM_004260.4(RECQL4):c.1303C>T (p.Pro435Ser) rs769553486 0.00001
NM_004260.4(RECQL4):c.1315C>T (p.Pro439Ser) rs776349086 0.00001
NM_004260.4(RECQL4):c.1318G>A (p.Val440Ile) rs770710973 0.00001
NM_004260.4(RECQL4):c.1326G>A (p.Glu442=) rs1184969354 0.00001
NM_004260.4(RECQL4):c.136C>A (p.Arg46Ser) rs1268307700 0.00001
NM_004260.4(RECQL4):c.1372C>T (p.Pro458Ser) rs761992231 0.00001
NM_004260.4(RECQL4):c.1376C>T (p.Ser459Leu) rs774240479 0.00001
NM_004260.4(RECQL4):c.1381C>A (p.Gln461Lys) rs1465965797 0.00001
NM_004260.4(RECQL4):c.1383G>T (p.Gln461His) rs1395093722 0.00001
NM_004260.4(RECQL4):c.1387G>A (p.Ala463Thr) rs776602501 0.00001
NM_004260.4(RECQL4):c.1390+6C>A rs770762372 0.00001
NM_004260.4(RECQL4):c.1391-3C>T rs772931084 0.00001
NM_004260.4(RECQL4):c.1412A>G (p.Gln471Arg) rs1162234134 0.00001
NM_004260.4(RECQL4):c.1432C>T (p.His478Tyr) rs750354218 0.00001
NM_004260.4(RECQL4):c.1462G>A (p.Ala488Thr) rs925075047 0.00001
NM_004260.4(RECQL4):c.1483+6C>T rs376137809 0.00001
NM_004260.4(RECQL4):c.1487T>C (p.Ile496Thr) rs772318434 0.00001
NM_004260.4(RECQL4):c.1501G>A (p.Val501Met) rs1016151338 0.00001
NM_004260.4(RECQL4):c.1511C>T (p.Thr504Ile) rs183852597 0.00001
NM_004260.4(RECQL4):c.1513G>A (p.Gly505Ser) rs1586815330 0.00001
NM_004260.4(RECQL4):c.1521C>T (p.Gly507=) rs763993982 0.00001
NM_004260.4(RECQL4):c.1532G>A (p.Cys511Tyr) rs1060501361 0.00001
NM_004260.4(RECQL4):c.1538A>G (p.Gln513Arg) rs759124032 0.00001
NM_004260.4(RECQL4):c.1543C>T (p.Pro515Ser) rs761310564 0.00001
NM_004260.4(RECQL4):c.1552C>T (p.Leu518Phe) rs568597345 0.00001
NM_004260.4(RECQL4):c.1562G>A (p.Arg521Gln) rs747019774 0.00001
NM_004260.4(RECQL4):c.1579A>G (p.Thr527Ala) rs760080894 0.00001
NM_004260.4(RECQL4):c.1580C>G (p.Thr527Arg) rs766354337 0.00001
NM_004260.4(RECQL4):c.1585G>C (p.Val529Leu) rs1459761249 0.00001
NM_004260.4(RECQL4):c.1592C>T (p.Ser531Phe) rs774637277 0.00001
NM_004260.4(RECQL4):c.1598T>A (p.Leu533Gln) rs986491410 0.00001
NM_004260.4(RECQL4):c.1606C>T (p.Leu536Phe) rs1370366623 0.00001
NM_004260.4(RECQL4):c.1609A>G (p.Met537Val) rs748083596 0.00001
NM_004260.4(RECQL4):c.1652C>T (p.Ala551Val) rs587778643 0.00001
NM_004260.4(RECQL4):c.1661A>G (p.His554Arg) rs779426316 0.00001
NM_004260.4(RECQL4):c.1669A>G (p.Met557Val) rs1270237157 0.00001
NM_004260.4(RECQL4):c.1691C>G (p.Ser564Cys) rs1370043767 0.00001
NM_004260.4(RECQL4):c.169G>A (p.Gly57Ser) rs1060501373 0.00001
NM_004260.4(RECQL4):c.1704+3G>C rs1210896009 0.00001
NM_004260.4(RECQL4):c.1704G>A (p.Lys568=) rs878854642 0.00001
NM_004260.4(RECQL4):c.1709G>A (p.Arg570Gln) rs755865911 0.00001
NM_004260.4(RECQL4):c.1741C>A (p.Pro581Thr) rs776147492 0.00001
NM_004260.4(RECQL4):c.1754T>G (p.Val585Gly) rs927576418 0.00001
NM_004260.4(RECQL4):c.1756G>A (p.Gly586Arg) rs878854643 0.00001
NM_004260.4(RECQL4):c.1757G>A (p.Gly586Glu) rs1060501369 0.00001
NM_004260.4(RECQL4):c.1760C>T (p.Ala587Val) rs747307935 0.00001
NM_004260.4(RECQL4):c.1762G>A (p.Gly588Arg) rs1476505217 0.00001
NM_004260.4(RECQL4):c.1763G>T (p.Gly588Val) rs1259051495 0.00001
NM_004260.4(RECQL4):c.1774C>T (p.Pro592Ser) rs1235051312 0.00001
NM_004260.4(RECQL4):c.1781C>T (p.Ala594Val) rs763773600 0.00001
NM_004260.4(RECQL4):c.1784A>C (p.Gln595Pro) rs762566552 0.00001
NM_004260.4(RECQL4):c.179G>A (p.Arg60His) rs1060501374 0.00001
NM_004260.4(RECQL4):c.1805C>T (p.Ala602Val) rs773424120 0.00001
NM_004260.4(RECQL4):c.1810A>G (p.Ile604Val) rs1467801930 0.00001
NM_004260.4(RECQL4):c.1820C>T (p.Ala607Val) rs1479605538 0.00001
NM_004260.4(RECQL4):c.1822C>T (p.His608Tyr) rs375033380 0.00001
NM_004260.4(RECQL4):c.1828C>T (p.Leu610Phe) rs751453635 0.00001
NM_004260.4(RECQL4):c.1832C>G (p.Ser611Cys) rs766282231 0.00001
NM_004260.4(RECQL4):c.1837T>C (p.Trp613Arg) rs1394819507 0.00001
NM_004260.4(RECQL4):c.1841C>T (p.Ser614Phe) rs1462959391 0.00001
NM_004260.4(RECQL4):c.1843C>A (p.His615Asn) rs1355971313 0.00001
NM_004260.4(RECQL4):c.1858T>G (p.Cys620Gly) rs762061985 0.00001
NM_004260.4(RECQL4):c.1859G>A (p.Cys620Tyr) rs1481613413 0.00001
NM_004260.4(RECQL4):c.1874G>A (p.Cys625Tyr) rs747827741 0.00001
NM_004260.4(RECQL4):c.1878G>A (p.Lys626=) rs1433507669 0.00001
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149 0.00001
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554 0.00001
NM_004260.4(RECQL4):c.1891C>T (p.Arg631Cys) rs748941688 0.00001
NM_004260.4(RECQL4):c.1894A>G (p.Met632Val) rs745309255 0.00001
NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr) rs758743745 0.00001
NM_004260.4(RECQL4):c.1918C>T (p.Leu640Phe) rs766559898 0.00001
NM_004260.4(RECQL4):c.1922C>A (p.Thr641Lys) rs867428284 0.00001
NM_004260.4(RECQL4):c.1925C>G (p.Ala642Gly) rs1338105623 0.00001
NM_004260.4(RECQL4):c.1928C>G (p.Thr643Arg) rs1285078612 0.00001
NM_004260.4(RECQL4):c.1937G>A (p.Arg646His) rs762767243 0.00001
NM_004260.4(RECQL4):c.1945G>A (p.Ala649Thr) rs1035779304 0.00001
NM_004260.4(RECQL4):c.1946C>G (p.Ala649Gly) rs1451532258 0.00001
NM_004260.4(RECQL4):c.1949G>A (p.Ser650Asn) rs747496472 0.00001
NM_004260.4(RECQL4):c.194T>C (p.Leu65Pro) rs1288667600 0.00001
NM_004260.4(RECQL4):c.1950T>G (p.Ser650Arg) rs1322122107 0.00001
NM_004260.4(RECQL4):c.1961A>G (p.Gln654Arg) rs534627012 0.00001
NM_004260.4(RECQL4):c.1970C>T (p.Ala657Val) rs1279119304 0.00001
NM_004260.4(RECQL4):c.1976C>G (p.Ala659Gly) rs1336325647 0.00001
NM_004260.4(RECQL4):c.1978G>A (p.Glu660Lys) rs1035926081 0.00001
NM_004260.4(RECQL4):c.1979A>G (p.Glu660Gly) rs762667669 0.00001
NM_004260.4(RECQL4):c.1993C>T (p.His665Tyr) rs369674791 0.00001
NM_004260.4(RECQL4):c.2005C>G (p.Pro669Ala) rs888214723 0.00001
NM_004260.4(RECQL4):c.2008G>A (p.Val670Ile) rs1484366007 0.00001
NM_004260.4(RECQL4):c.2012C>T (p.Pro671Leu) rs889029109 0.00001
NM_004260.4(RECQL4):c.2025C>G (p.His675Gln) rs779458343 0.00001
NM_004260.4(RECQL4):c.2026C>T (p.Leu676Phe) rs1412869186 0.00001
NM_004260.4(RECQL4):c.2030C>G (p.Ser677Cys) rs1340252869 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004260.4(RECQL4):c.2036C>T (p.Ser679Phe) rs750457453 0.00001
NM_004260.4(RECQL4):c.2038A>G (p.Met680Val) rs1040931249 0.00001
NM_004260.4(RECQL4):c.2051C>T (p.Thr684Ile) rs911017899 0.00001
NM_004260.4(RECQL4):c.2053G>A (p.Asp685Asn) rs765039635 0.00001
NM_004260.4(RECQL4):c.2058+4G>T rs369280644 0.00001
NM_004260.4(RECQL4):c.2059G>A (p.Ala687Thr) rs1023524924 0.00001
NM_004260.4(RECQL4):c.2060C>T (p.Ala687Val) rs1204590426 0.00001
NM_004260.4(RECQL4):c.2067G>C (p.Leu689Phe) rs1342995001 0.00001
NM_004260.4(RECQL4):c.2101G>A (p.Asp701Asn) rs1182814326 0.00001
NM_004260.4(RECQL4):c.2114T>C (p.Ile705Thr) rs1060501372 0.00001
NM_004260.4(RECQL4):c.2119T>C (p.Cys707Arg) rs1410988413 0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) rs1351785836 0.00001
NM_004260.4(RECQL4):c.2126G>A (p.Arg709Gln) rs947223466 0.00001
NM_004260.4(RECQL4):c.213+4C>T rs768769944 0.00001
NM_004260.4(RECQL4):c.2141A>G (p.Glu714Gly) rs766703250 0.00001
NM_004260.4(RECQL4):c.2170C>G (p.Leu724Val) rs536831548 0.00001
NM_004260.4(RECQL4):c.2185G>A (p.Val729Ile) rs376141829 0.00001
NM_004260.4(RECQL4):c.2191G>A (p.Gly731Arg) rs1356416510 0.00001
NM_004260.4(RECQL4):c.2197G>A (p.Gly733Arg) rs1364066465 0.00001
NM_004260.4(RECQL4):c.2204G>A (p.Arg735His) rs773155492 0.00001
NM_004260.4(RECQL4):c.2209C>T (p.Pro737Ser) rs550529518 0.00001
NM_004260.4(RECQL4):c.220G>C (p.Glu74Gln) rs765583077 0.00001
NM_004260.4(RECQL4):c.2210C>T (p.Pro737Leu) rs773886849 0.00001
NM_004260.4(RECQL4):c.2227G>A (p.Ala743Thr) rs1763223517 0.00001
NM_004260.4(RECQL4):c.2233C>T (p.His745Tyr) rs747466614 0.00001
NM_004260.4(RECQL4):c.2257C>T (p.Arg753Trp) rs367570292 0.00001
NM_004260.4(RECQL4):c.2258G>A (p.Arg753Gln) rs540601452 0.00001
NM_004260.4(RECQL4):c.227G>A (p.Arg76His) rs771110626 0.00001
NM_004260.4(RECQL4):c.2283G>A (p.Met761Ile) rs1291088541 0.00001
NM_004260.4(RECQL4):c.2288G>A (p.Gly763Asp) rs1164917814 0.00001
NM_004260.4(RECQL4):c.2308G>A (p.Ala770Thr) rs759107465 0.00001
NM_004260.4(RECQL4):c.2312C>T (p.Thr771Met) rs770327474 0.00001
NM_004260.4(RECQL4):c.2314G>A (p.Val772Met) rs1343306408 0.00001
NM_004260.4(RECQL4):c.2328G>A (p.Met776Ile) rs1368178192 0.00001
NM_004260.4(RECQL4):c.2335G>A (p.Asp779Asn) rs780228802 0.00001
NM_004260.4(RECQL4):c.2347G>A (p.Val783Met) rs1483530082 0.00001
NM_004260.4(RECQL4):c.2375C>T (p.Pro792Leu) rs1471609431 0.00001
NM_004260.4(RECQL4):c.23G>C (p.Arg8Pro) rs896245546 0.00001
NM_004260.4(RECQL4):c.2407G>A (p.Gly803Ser) rs1827604830 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.2414C>T (p.Ala805Val) rs765894032 0.00001
NM_004260.4(RECQL4):c.2419C>T (p.Arg807Cys) rs764549158 0.00001
NM_004260.4(RECQL4):c.2437C>T (p.His813Tyr) rs945709072 0.00001
NM_004260.4(RECQL4):c.2463G>A (p.Gln821=) rs1447984125 0.00001
NM_004260.4(RECQL4):c.2468_2476del (p.Glu823_Arg826delinsGly) rs1827568539 0.00001
NM_004260.4(RECQL4):c.2500G>A (p.Ala834Thr) rs767722327 0.00001
NM_004260.4(RECQL4):c.2510C>T (p.Thr837Met) rs149067160 0.00001
NM_004260.4(RECQL4):c.2513A>C (p.Asp838Ala) rs1317677692 0.00001
NM_004260.4(RECQL4):c.2524G>A (p.Val842Met) rs1292755928 0.00001
NM_004260.4(RECQL4):c.2531G>A (p.Arg844Lys) rs780474951 0.00001
NM_004260.4(RECQL4):c.2540A>G (p.Gln847Arg) rs1320033045 0.00001
NM_004260.4(RECQL4):c.2552C>T (p.Pro851Leu) rs760522191 0.00001
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup) rs1363648649 0.00001
NM_004260.4(RECQL4):c.2555C>T (p.Ala852Val) rs539160096 0.00001
NM_004260.4(RECQL4):c.2560A>C (p.Thr854Pro) rs1167670319 0.00001
NM_004260.4(RECQL4):c.2563T>C (p.Cys855Arg) rs867982056 0.00001
NM_004260.4(RECQL4):c.2563T>G (p.Cys855Gly) rs867982056 0.00001
NM_004260.4(RECQL4):c.2565C>G (p.Cys855Trp) rs768163180 0.00001
NM_004260.4(RECQL4):c.2575A>G (p.Arg859Gly) rs1268491409 0.00001
NM_004260.4(RECQL4):c.2579C>T (p.Pro860Leu) rs774850992 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2602G>A (p.Val868Met) rs369250614 0.00001
NM_004260.4(RECQL4):c.2617C>G (p.Pro873Ala) rs751230101 0.00001
NM_004260.4(RECQL4):c.2617C>T (p.Pro873Ser) rs751230101 0.00001
NM_004260.4(RECQL4):c.2618C>T (p.Pro873Leu) rs1158920004 0.00001
NM_004260.4(RECQL4):c.2624C>T (p.Pro875Leu) rs1249837985 0.00001
NM_004260.4(RECQL4):c.2632C>T (p.Pro878Ser) rs375036010 0.00001
NM_004260.4(RECQL4):c.264G>C (p.Lys88Asn) rs750999910 0.00001
NM_004260.4(RECQL4):c.2652G>C (p.Gln884His) rs778275815 0.00001
NM_004260.4(RECQL4):c.2668G>A (p.Ala890Thr) rs750381540 0.00001
NM_004260.4(RECQL4):c.2671C>T (p.Pro891Ser) rs757175211 0.00001
NM_004260.4(RECQL4):c.2674G>A (p.Gly892Arg) rs1407549287 0.00001
NM_004260.4(RECQL4):c.2677C>T (p.Pro893Ser) rs1264247879 0.00001
NM_004260.4(RECQL4):c.2686G>C (p.Val896Leu) rs762644049 0.00001
NM_004260.4(RECQL4):c.2690G>T (p.Cys897Phe) rs1393217982 0.00001
NM_004260.4(RECQL4):c.2699A>G (p.His900Arg) rs1827524156 0.00001
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404 0.00001
NM_004260.4(RECQL4):c.2713C>A (p.Pro905Thr) rs778939539 0.00001
NM_004260.4(RECQL4):c.2732A>G (p.Gln911Arg) rs770437224 0.00001
NM_004260.4(RECQL4):c.2755+3G>A rs932763075 0.00001
NM_004260.4(RECQL4):c.2755+6G>A rs1827505860 0.00001
NM_004260.4(RECQL4):c.2758A>G (p.Ile920Val) rs780723602 0.00001
NM_004260.4(RECQL4):c.2760C>A (p.Ile920=) rs752058642 0.00001
NM_004260.4(RECQL4):c.2763G>C (p.Glu921Asp) rs763244862 0.00001
NM_004260.4(RECQL4):c.2764A>G (p.Thr922Ala) rs1827489849 0.00001
NM_004260.4(RECQL4):c.2765C>T (p.Thr922Ile) rs753044583 0.00001
NM_004260.4(RECQL4):c.2773T>G (p.Cys925Gly) rs765510227 0.00001
NM_004260.4(RECQL4):c.2774G>A (p.Cys925Tyr) rs1358613276 0.00001
NM_004260.4(RECQL4):c.2830C>T (p.His944Tyr) rs527454830 0.00001
NM_004260.4(RECQL4):c.2831A>C (p.His944Pro) rs759772792 0.00001
NM_004260.4(RECQL4):c.2848C>T (p.Pro950Ser) rs775475361 0.00001
NM_004260.4(RECQL4):c.2879C>T (p.Ala960Val) rs373651108 0.00001
NM_004260.4(RECQL4):c.2885+3A>T rs756288212 0.00001
NM_004260.4(RECQL4):c.2885+5G>A rs750560547 0.00001
NM_004260.4(RECQL4):c.2886-8G>A rs1827452946 0.00001
NM_004260.4(RECQL4):c.2890C>A (p.Pro964Thr) rs33972310 0.00001
NM_004260.4(RECQL4):c.2893C>T (p.Pro965Ser) rs1383809349 0.00001
NM_004260.4(RECQL4):c.28C>T (p.Arg10Trp) rs757678397 0.00001
NM_004260.4(RECQL4):c.2902G>A (p.Val968Met) rs1060501382 0.00001
NM_004260.4(RECQL4):c.2911G>A (p.Ala971Thr) rs1827445508 0.00001
NM_004260.4(RECQL4):c.2912C>T (p.Ala971Val) rs1202372780 0.00001
NM_004260.4(RECQL4):c.2932C>T (p.Pro978Ser) rs770014424 0.00001
NM_004260.4(RECQL4):c.2968G>A (p.Val990Ile) rs151223648 0.00001
NM_004260.4(RECQL4):c.2986A>G (p.Met996Val) rs781661324 0.00001
NM_004260.4(RECQL4):c.2999T>C (p.Leu1000Pro) rs778030723 0.00001
NM_004260.4(RECQL4):c.3002C>T (p.Ala1001Val) rs918047641 0.00001
NM_004260.4(RECQL4):c.3019C>T (p.Leu1007Phe) rs1342565479 0.00001
NM_004260.4(RECQL4):c.302C>T (p.Ser101Leu) rs62530445 0.00001
NM_004260.4(RECQL4):c.3032A>G (p.Gln1011Arg) rs765732606 0.00001
NM_004260.4(RECQL4):c.3040C>G (p.His1014Asp) rs760096494 0.00001
NM_004260.4(RECQL4):c.3049A>G (p.Arg1017Gly) rs747239208 0.00001
NM_004260.4(RECQL4):c.304G>A (p.Val102Met) rs377536752 0.00001
NM_004260.4(RECQL4):c.3055+4C>T rs772320981 0.00001
NM_004260.4(RECQL4):c.3056-5G>A rs774320251 0.00001
NM_004260.4(RECQL4):c.3064C>T (p.Arg1022Cys) rs758008013 0.00001
NM_004260.4(RECQL4):c.3073G>C (p.Gly1025Arg) rs373739637 0.00001
NM_004260.4(RECQL4):c.3076G>T (p.Val1026Leu) rs370954099 0.00001
NM_004260.4(RECQL4):c.3079C>T (p.Leu1027Phe) rs767057306 0.00001
NM_004260.4(RECQL4):c.3088T>G (p.Phe1030Val) rs759912361 0.00001
NM_004260.4(RECQL4):c.3089T>C (p.Phe1030Ser) rs376504280 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.3131C>T (p.Thr1044Ile) rs778762414 0.00001
NM_004260.4(RECQL4):c.3173G>A (p.Arg1058His) rs778819494 0.00001
NM_004260.4(RECQL4):c.3175G>A (p.Val1059Met) rs749717457 0.00001
NM_004260.4(RECQL4):c.3176T>C (p.Val1059Ala) rs779743345 0.00001
NM_004260.4(RECQL4):c.3191G>A (p.Arg1064His) rs757703895 0.00001
NM_004260.4(RECQL4):c.319C>A (p.Gln107Lys) rs1026197269 0.00001
NM_004260.4(RECQL4):c.3203C>A (p.Ala1068Asp) rs751964578 0.00001
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His) rs752847936 0.00001
NM_004260.4(RECQL4):c.3227C>T (p.Ala1076Val) rs1489682094 0.00001
NM_004260.4(RECQL4):c.3236+4G>A rs575764344 0.00001
NM_004260.4(RECQL4):c.3237C>T (p.Ser1079=) rs770553956 0.00001
NM_004260.4(RECQL4):c.3259C>G (p.Pro1087Ala) rs768802673 0.00001
NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr) rs780200030 0.00001
NM_004260.4(RECQL4):c.3289A>G (p.Ser1097Gly) rs759304160 0.00001
NM_004260.4(RECQL4):c.3295A>G (p.Arg1099Gly) rs766056345 0.00001
NM_004260.4(RECQL4):c.3301A>C (p.Lys1101Gln) rs1060501381 0.00001
NM_004260.4(RECQL4):c.3304G>T (p.Asp1102Tyr) rs1422371025 0.00001
NM_004260.4(RECQL4):c.3319T>C (p.Tyr1107His) rs757342740 0.00001
NM_004260.4(RECQL4):c.3331G>A (p.Glu1111Lys) rs1331348912 0.00001
NM_004260.4(RECQL4):c.3334G>A (p.Glu1112Lys) rs753620447 0.00001
NM_004260.4(RECQL4):c.3338G>A (p.Gly1113Glu) rs572936673 0.00001
NM_004260.4(RECQL4):c.334A>C (p.Asn112His) rs1815223562 0.00001
NM_004260.4(RECQL4):c.3352G>A (p.Gly1118Ser) rs773909942 0.00001
NM_004260.4(RECQL4):c.3364G>A (p.Ala1122Thr) rs369843844 0.00001
NM_004260.4(RECQL4):c.3376G>A (p.Glu1126Lys) rs779826649 0.00001
NM_004260.4(RECQL4):c.3377A>G (p.Glu1126Gly) rs1030415007 0.00001
NM_004260.4(RECQL4):c.3393+5G>A rs1214839248 0.00001
NM_004260.4(RECQL4):c.344G>T (p.Gly115Val) rs1715996382 0.00001
NM_004260.4(RECQL4):c.3457G>A (p.Glu1153Lys) rs564143545 0.00001
NM_004260.4(RECQL4):c.3461A>G (p.Lys1154Arg) rs767821367 0.00001
NM_004260.4(RECQL4):c.3463T>C (p.Phe1155Leu) rs757502009 0.00001
NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp) rs1416975304 0.00001
NM_004260.4(RECQL4):c.3502+1G>C rs757563486 0.00001
NM_004260.4(RECQL4):c.3508C>T (p.Pro1170Ser) rs1038354357 0.00001
NM_004260.4(RECQL4):c.3518C>T (p.Pro1173Leu) rs1375776479 0.00001
NM_004260.4(RECQL4):c.3526G>C (p.Val1176Leu) rs751477241 0.00001
NM_004260.4(RECQL4):c.3530A>G (p.Tyr1177Cys) rs1341756990 0.00001
NM_004260.4(RECQL4):c.3533G>A (p.Gly1178Glu) rs1827189895 0.00001
NM_004260.4(RECQL4):c.3536A>C (p.Gln1179Pro) rs939186872 0.00001
NM_004260.4(RECQL4):c.3541C>T (p.Arg1181Ter) rs765804620 0.00001
NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) rs557256260 0.00001
NM_004260.4(RECQL4):c.355-3C>T rs778042700 0.00001
NM_004260.4(RECQL4):c.3552G>A (p.Trp1184Ter) rs1564786587 0.00001
NM_004260.4(RECQL4):c.3554G>C (p.Arg1185Thr) rs774756135 0.00001
NM_004260.4(RECQL4):c.3557A>G (p.Lys1186Arg) rs745722387 0.00001
NM_004260.4(RECQL4):c.3565C>T (p.His1189Tyr) rs745930478 0.00001
NM_004260.4(RECQL4):c.3569T>C (p.Leu1190Pro) rs752487649 0.00001
NM_004260.4(RECQL4):c.3599C>T (p.Thr1200Met) rs770138542 0.00001
NM_004260.4(RECQL4):c.3602A>G (p.Glu1201Gly) rs781313959 0.00001
NM_004260.4(RECQL4):c.367C>G (p.Leu123Val) rs1347447166 0.00001
NM_004260.4(RECQL4):c.368T>C (p.Leu123Pro) rs1301601410 0.00001
NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp) rs368160871 0.00001
NM_004260.4(RECQL4):c.38C>T (p.Ala13Val) rs1489214833 0.00001
NM_004260.4(RECQL4):c.397G>A (p.Ala133Thr) rs773349575 0.00001
NM_004260.4(RECQL4):c.404C>G (p.Ser135Cys) rs748201614 0.00001
NM_004260.4(RECQL4):c.410C>T (p.Ala137Val) rs527934999 0.00001
NM_004260.4(RECQL4):c.415A>C (p.Thr139Pro) rs1333499972 0.00001
NM_004260.4(RECQL4):c.422A>C (p.Lys141Thr) rs1178719750 0.00001
NM_004260.4(RECQL4):c.424C>T (p.Pro142Ser) rs781248589 0.00001
NM_004260.4(RECQL4):c.427C>G (p.Pro143Ala) rs1023001689 0.00001
NM_004260.4(RECQL4):c.435A>G (p.Thr145=) rs752154343 0.00001
NM_004260.4(RECQL4):c.437G>A (p.Gly146Glu) rs1464115370 0.00001
NM_004260.4(RECQL4):c.440C>T (p.Pro147Leu) rs759034699 0.00001
NM_004260.4(RECQL4):c.445C>T (p.Pro149Ser) rs766844431 0.00001
NM_004260.4(RECQL4):c.446C>T (p.Pro149Leu) rs773579080 0.00001
NM_004260.4(RECQL4):c.461A>G (p.Lys154Arg) rs1815075291 0.00001
NM_004260.4(RECQL4):c.467G>A (p.Ser156Asn) rs1481579348 0.00001
NM_004260.4(RECQL4):c.469G>A (p.Asp157Asn) rs746791320 0.00001
NM_004260.4(RECQL4):c.472G>A (p.Glu158Lys) rs1387642543 0.00001
NM_004260.4(RECQL4):c.474G>C (p.Glu158Asp) rs1186107059 0.00001
NM_004260.4(RECQL4):c.475C>T (p.Pro159Ser) rs868299027 0.00001
NM_004260.4(RECQL4):c.478C>A (p.Pro160Thr) rs758124770 0.00001
NM_004260.4(RECQL4):c.483G>C (p.Gln161His) rs985628516 0.00001
NM_004260.4(RECQL4):c.490G>A (p.Glu164Lys) rs576735078 0.00001
NM_004260.4(RECQL4):c.491A>T (p.Glu164Val) rs1554903532 0.00001
NM_004260.4(RECQL4):c.493C>A (p.Pro165Thr) rs766897765 0.00001
NM_004260.4(RECQL4):c.493C>T (p.Pro165Ser) rs766897765 0.00001
NM_004260.4(RECQL4):c.509G>A (p.Gly170Asp) rs768956367 0.00001
NM_004260.4(RECQL4):c.512G>A (p.Arg171Gln) rs770777125 0.00001
NM_004260.4(RECQL4):c.52T>C (p.Phe18Leu) rs941281893 0.00001
NM_004260.4(RECQL4):c.536T>C (p.Leu179Pro) rs753361853 0.00001
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378 0.00001
NM_004260.4(RECQL4):c.545G>A (p.Arg182Gln) rs565903685 0.00001
NM_004260.4(RECQL4):c.562C>T (p.Pro188Ser) rs769976284 0.00001
NM_004260.4(RECQL4):c.563C>T (p.Pro188Leu) rs773241386 0.00001
NM_004260.4(RECQL4):c.578G>A (p.Arg193Gln) rs747963862 0.00001
NM_004260.4(RECQL4):c.589G>A (p.Glu197Lys) rs778626045 0.00001
NM_004260.4(RECQL4):c.590A>C (p.Glu197Ala) rs768304412 0.00001
NM_004260.4(RECQL4):c.59G>C (p.Arg20Pro) rs990552711 0.00001
NM_004260.4(RECQL4):c.607G>A (p.Gly203Arg) rs1336852149 0.00001
NM_004260.4(RECQL4):c.611C>T (p.Ala204Val) rs757780731 0.00001
NM_004260.4(RECQL4):c.614C>T (p.Pro205Leu) rs751975669 0.00001
NM_004260.4(RECQL4):c.626G>A (p.Arg209Lys) rs753018522 0.00001
NM_004260.4(RECQL4):c.629C>G (p.Pro210Arg) rs746917248 0.00001
NM_004260.4(RECQL4):c.631G>C (p.Asp211His) rs776528292 0.00001
NM_004260.4(RECQL4):c.638G>A (p.Gly213Asp) rs1483707476 0.00001
NM_004260.4(RECQL4):c.648A>C (p.Glu216Asp) rs780500628 0.00001
NM_004260.4(RECQL4):c.664C>T (p.Pro222Ser) rs758876038 0.00001
NM_004260.4(RECQL4):c.677C>T (p.Ala226Val) rs763975196 0.00001
NM_004260.4(RECQL4):c.682C>T (p.Leu228Phe) rs1316434470 0.00001
NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser) rs745571670 0.00001
NM_004260.4(RECQL4):c.725T>G (p.Phe242Cys) rs780215594 0.00001
NM_004260.4(RECQL4):c.730G>A (p.Glu244Lys) rs756213173 0.00001
NM_004260.4(RECQL4):c.740T>C (p.Ile247Thr) rs752673956 0.00001
NM_004260.4(RECQL4):c.743G>A (p.Arg248His) rs759352592 0.00001
NM_004260.4(RECQL4):c.745G>T (p.Val249Leu) rs756397882 0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) rs373588660 0.00001
NM_004260.4(RECQL4):c.776G>A (p.Gly259Asp) rs1284898299 0.00001
NM_004260.4(RECQL4):c.788G>A (p.Arg263Lys) rs1477769679 0.00001
NM_004260.4(RECQL4):c.795C>G (p.Asn265Lys) rs564678543 0.00001
NM_004260.4(RECQL4):c.802C>T (p.Pro268Ser) rs561010978 0.00001
NM_004260.4(RECQL4):c.803C>T (p.Pro268Leu) rs760340046 0.00001
NM_004260.4(RECQL4):c.806G>C (p.Trp269Ser) rs137853231 0.00001
NM_004260.4(RECQL4):c.808G>A (p.Glu270Lys) rs1344294148 0.00001
NM_004260.4(RECQL4):c.810G>C (p.Glu270Asp) rs1333353971 0.00001
NM_004260.4(RECQL4):c.832G>A (p.Glu278Lys) rs749625708 0.00001
NM_004260.4(RECQL4):c.839G>A (p.Ser280Asn) rs1452098347 0.00001
NM_004260.4(RECQL4):c.85-3C>G rs1053090518 0.00001
NM_004260.4(RECQL4):c.85-6T>A rs1815408102 0.00001
NM_004260.4(RECQL4):c.851C>T (p.Pro284Leu) rs972715381 0.00001
NM_004260.4(RECQL4):c.859G>A (p.Glu287Lys) rs1383587887 0.00001
NM_004260.4(RECQL4):c.869G>A (p.Gly290Glu) rs1007744170 0.00001
NM_004260.4(RECQL4):c.872C>G (p.Ala291Gly) rs1396400224 0.00001
NM_004260.4(RECQL4):c.875T>C (p.Val292Ala) rs1319653117 0.00001
NM_004260.4(RECQL4):c.877G>T (p.Ala293Ser) rs1814951208 0.00001
NM_004260.4(RECQL4):c.883G>A (p.Glu295Lys) rs755963144 0.00001
NM_004260.4(RECQL4):c.889G>A (p.Asp297Asn) rs767170672 0.00001
NM_004260.4(RECQL4):c.88G>A (p.Asp30Asn) rs934908599 0.00001
NM_004260.4(RECQL4):c.898G>T (p.Gly300Trp) rs764510816 0.00001
NM_004260.4(RECQL4):c.904C>T (p.Pro302Ser) rs771135444 0.00001
NM_004260.4(RECQL4):c.907G>C (p.Val303Leu) rs1489813654 0.00001
NM_004260.4(RECQL4):c.914C>T (p.Ala305Val) rs578139890 0.00001
NM_004260.4(RECQL4):c.923C>T (p.Pro308Leu) rs372417964 0.00001
NM_004260.4(RECQL4):c.940C>T (p.Pro314Ser) rs538222166 0.00001
NM_004260.4(RECQL4):c.943T>G (p.Ser315Ala) rs1172316141 0.00001
NM_004260.4(RECQL4):c.968G>T (p.Ser323Ile) rs769792064 0.00001
NM_004260.4(RECQL4):c.988G>A (p.Ala330Thr) rs757933716 0.00001
NM_004260.4(RECQL4):c.992G>C (p.Gly331Ala) rs1156246668 0.00001
NM_004260.4(RECQL4):c.998C>G (p.Ala333Gly) rs1586822076 0.00001
NM_004273.5(CHST3):c.*1244G>T rs886047168 0.00001
NM_004273.5(CHST3):c.*1256G>A rs886047169 0.00001
NM_004273.5(CHST3):c.*1496C>A rs538070743 0.00001
NM_004273.5(CHST3):c.*1536G>A rs376062544 0.00001
NM_004273.5(CHST3):c.*1960G>A rs886047172 0.00001
NM_004273.5(CHST3):c.*2226A>G rs886047175 0.00001
NM_004273.5(CHST3):c.*2257G>A rs758665372 0.00001
NM_004273.5(CHST3):c.*2592C>T rs886047176 0.00001
NM_004273.5(CHST3):c.*3340A>G rs1018806913 0.00001
NM_004273.5(CHST3):c.*4628A>C rs886047182 0.00001
NM_004273.5(CHST3):c.*5026C>T rs1840133812 0.00001
NM_004273.5(CHST3):c.*544C>T rs886047161 0.00001
NM_004273.5(CHST3):c.*851T>C rs886047163 0.00001
NM_004273.5(CHST3):c.-300C>G rs1469041878 0.00001
NM_004273.5(CHST3):c.1031A>G (p.Asn344Ser) rs777739643 0.00001
NM_004273.5(CHST3):c.1327G>A (p.Ala443Thr) rs764953708 0.00001
NM_004273.5(CHST3):c.182A>G (p.Asp61Gly) rs1362350248 0.00001
NM_004273.5(CHST3):c.202G>A (p.Ala68Thr) rs142556853 0.00001
NM_004273.5(CHST3):c.295T>A (p.Leu99Met) rs1446955235 0.00001
NM_004273.5(CHST3):c.311A>G (p.Glu104Gly) rs148801316 0.00001
NM_004273.5(CHST3):c.313C>G (p.Pro105Ala) rs747226832 0.00001
NM_004273.5(CHST3):c.340G>C (p.Glu114Gln) rs759393390 0.00001
NM_004273.5(CHST3):c.398G>A (p.Arg133His) rs767508669 0.00001
NM_004273.5(CHST3):c.466G>A (p.Gly156Ser) rs202107912 0.00001
NM_004273.5(CHST3):c.538A>T (p.Asn180Tyr) rs1249561246 0.00001
NM_004273.5(CHST3):c.543C>T (p.Ala181=) rs778478785 0.00001
NM_004273.5(CHST3):c.544G>A (p.Ala182Thr) rs745523940 0.00001
NM_004273.5(CHST3):c.655A>G (p.Met219Val) rs779793827 0.00001
NM_004273.5(CHST3):c.665G>A (p.Arg222Gln) rs1437776489 0.00001
NM_004273.5(CHST3):c.757G>A (p.Gly253Ser) rs200988207 0.00001
NM_004273.5(CHST3):c.790T>C (p.Cys264Arg) rs1459673649 0.00001
NM_004273.5(CHST3):c.793C>G (p.Arg265Gly) rs760987231 0.00001
NM_004273.5(CHST3):c.853C>T (p.Pro285Ser) rs868146865 0.00001
NM_004273.5(CHST3):c.862G>A (p.Glu288Lys) rs903606184 0.00001
NM_004273.5(CHST3):c.869C>G (p.Pro290Arg) rs768963465 0.00001
NM_004273.5(CHST3):c.922G>T (p.Ala308Ser) rs1840062598 0.00001
NM_004273.5(CHST3):c.994G>A (p.Gly332Ser) rs971956671 0.00001
NM_004282.4(BAG2):c.*3952A>G rs1159890588 0.00001
NM_004282.4(BAG2):c.*4026A>G rs908169983 0.00001
NM_004282.4(BAG2):c.*5476C>T rs1387081917 0.00001
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val) rs747187975 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala) rs1186080322 0.00001
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile) rs774047746 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys) rs1272691121 0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) rs773159964 0.00001
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala) rs2052174869 0.00001
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val) rs1295662710 0.00001
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val) rs1186493453 0.00001
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838 0.00001
NM_004380.3(CREBBP):c.5777G>A (p.Arg1926Gln) rs1370704436 0.00001
NM_004380.3(CREBBP):c.5795C>T (p.Thr1932Met) rs867074201 0.00001
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=) rs755609198 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly) rs794727274 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp) rs1211983012 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly) rs398124149 0.00001
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His) rs794727551 0.00001
NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln) rs1064793091 0.00001
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu) rs587778215 0.00001
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr) rs766962344 0.00001
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp) rs201910738 0.00001
NM_004629.1(FANCG):c.-491G>A rs886063901 0.00001
NM_004629.2(FANCG):c.*101A>G rs751616369 0.00001
NM_004629.2(FANCG):c.-276G>A rs1445799529 0.00001
NM_004629.2(FANCG):c.-311T>A rs886063900 0.00001
NM_004629.2(FANCG):c.-348A>G rs376750755 0.00001
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys) rs755919340 0.00001
NM_004629.2(FANCG):c.1077G>A (p.Arg359=) rs901079231 0.00001
NM_004629.2(FANCG):c.1162C>G (p.Pro388Ala) rs1356114266 0.00001
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu) rs1060501868 0.00001
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser) rs371171892 0.00001
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys) rs886063896 0.00001
NM_004629.2(FANCG):c.1268G>A (p.Arg423His) rs757276792 0.00001
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro) rs748738986 0.00001
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile) rs756069860 0.00001
NM_004629.2(FANCG):c.1434-6C>T rs1404150675 0.00001
NM_004629.2(FANCG):c.1473A>G (p.Lys491=) rs769921972 0.00001
NM_004629.2(FANCG):c.1492A>C (p.Asn498His) rs748364103 0.00001
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr) rs373151602 0.00001
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln) rs761993636 0.00001
NM_004629.2(FANCG):c.158T>G (p.Leu53Arg) rs756388446 0.00001
NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg) rs1587139402 0.00001
NM_004629.2(FANCG):c.1615C>G (p.Leu539Val) rs1486862292 0.00001
NM_004629.2(FANCG):c.1626G>C (p.Gln542His) rs1060501867 0.00001
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser) rs1447816480 0.00001
NM_004629.2(FANCG):c.1662G>A (p.Leu554=) rs750982155 0.00001
NM_004629.2(FANCG):c.1687C>T (p.Arg563Trp) rs754258080 0.00001
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln) rs1309056736 0.00001
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu) rs538555981 0.00001
NM_004629.2(FANCG):c.1814G>A (p.Arg605His) rs751710424 0.00001
NM_004629.2(FANCG):c.314A>G (p.Glu105Gly) rs769048669 0.00001
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys) rs778894219 0.00001
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys) rs200926249 0.00001
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser) rs749946550 0.00001
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr) rs775291829 0.00001
NM_004629.2(FANCG):c.646+5G>A rs1453133047 0.00001
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr) rs765095688 0.00001
NM_004629.2(FANCG):c.73C>G (p.Arg25Gly) rs752839554 0.00001
NM_004629.2(FANCG):c.84+9G>T rs759504806 0.00001
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys) rs779840229 0.00001
NM_004629.2(FANCG):c.8G>T (p.Arg3Leu) rs770674344 0.00001
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile) rs61757386 0.00001
NM_004629.2(FANCG):c.924+3A>G rs1338383222 0.00001
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup) rs1199832786 0.00001
NM_004629.2(FANCG):c.999C>T (p.Asp333=) rs762238437 0.00001
NM_004793.4(LONP1):c.1939G>A (p.Glu647Lys) rs149596661 0.00001
NM_004793.4(LONP1):c.2536G>A (p.Glu846Lys) rs752945140 0.00001
NM_004793.4(LONP1):c.2716G>T (p.Gly906Trp) rs775882355 0.00001
NM_004836.7(EIF2AK3):c.*712C>T rs1415152930 0.00001
NM_004836.7(EIF2AK3):c.1085C>T (p.Thr362Ile) rs1674857627 0.00001
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) rs200574679 0.00001
NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile) rs965316271 0.00001
NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile) rs1674713665 0.00001
NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His) rs758957898 0.00001
NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser) rs776579341 0.00001
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) rs771612567 0.00001
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) rs747687191 0.00001
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115 0.00001
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala) rs781754103 0.00001
NM_004836.7(EIF2AK3):c.2467A>G (p.Lys823Glu) rs374540128 0.00001
NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg) rs752726105 0.00001
NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val) rs759906972 0.00001
NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr) rs766524866 0.00001
NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn) rs762080456 0.00001
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) rs984341375 0.00001
NM_004836.7(EIF2AK3):c.737G>A (p.Arg246Lys) rs775353963 0.00001
NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=) rs375371096 0.00001
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr) rs1458037304 0.00001
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu) rs765535723 0.00001
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) rs774643449 0.00001
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) rs751348446 0.00001
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) rs767454772 0.00001
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=) rs752193295 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly) rs751095195 0.00001
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn) rs767138486 0.00001
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly) rs752379459 0.00001
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val) rs767408205 0.00001
NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp) rs1234856735 0.00001
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys) rs1473430382 0.00001
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg) rs1001540758 0.00001
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr) rs368559924 0.00001
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg) rs759312308 0.00001
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys) rs757860762 0.00001
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) rs766111215 0.00001
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) rs779170299 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser) rs753506602 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_005236.3(ERCC4):c.2017+3G>A rs1596634140 0.00001
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys) rs772728961 0.00001
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) rs777184889 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) rs535728795 0.00001
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu) rs765712858 0.00001
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu) rs774635437 0.00001
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819 0.00001
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser) rs377562755 0.00001
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser) rs749822053 0.00001
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys) rs587778284 0.00001
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys) rs191886782 0.00001
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys) rs2032564211 0.00001
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) rs2020956 0.00001
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val) rs767586458 0.00001
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val) rs753596005 0.00001
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) rs1192940719 0.00001
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu) rs754622238 0.00001
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) rs145402255 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.541G>A (p.Val181Met) rs750673145 0.00001
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu) rs748499820 0.00001
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu) rs370864937 0.00001
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu) rs765111229 0.00001
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile) rs1265753536 0.00001
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) rs746106147 0.00001
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro) rs2032156137 0.00001
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) rs1340754747 0.00001
NM_005430.4(WNT1):c.27C>T (p.Gly9=) rs772782141 0.00001
NM_005430.4(WNT1):c.689G>A (p.Arg230His) rs560459579 0.00001
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) rs569810249 0.00001
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val) rs765021741 0.00001
NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser) rs534746330 0.00001
NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro) rs774296079 0.00001
NM_005445.4(SMC3):c.*228C>T rs1486030712 0.00001
NM_005445.4(SMC3):c.-90G>A rs1333533101 0.00001
NM_005445.4(SMC3):c.1580A>G (p.His527Arg) rs756254563 0.00001
NM_005445.4(SMC3):c.1998G>C (p.Gly666=) rs142669130 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005445.4(SMC3):c.2299T>C (p.Leu767=) rs139763232 0.00001
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser) rs777828072 0.00001
NM_005445.4(SMC3):c.2645-8C>T rs886046695 0.00001
NM_005515.4(MNX1):c.956G>A (p.Gly319Asp) rs758672581 0.00001
NM_005529.7(HSPG2):c.1033G>A (p.Asp345Asn) rs755218466 0.00001
NM_005529.7(HSPG2):c.10402G>A (p.Ala3468Thr) rs1013471019 0.00001
NM_005529.7(HSPG2):c.10497C>T (p.Thr3499=) rs758425905 0.00001
NM_005529.7(HSPG2):c.10831-15C>G rs761025182 0.00001
NM_005529.7(HSPG2):c.11261T>C (p.Leu3754Pro) rs771019769 0.00001
NM_005529.7(HSPG2):c.1136A>G (p.Asn379Ser) rs886046045 0.00001
NM_005529.7(HSPG2):c.11422C>T (p.Pro3808Ser) rs755818301 0.00001
NM_005529.7(HSPG2):c.11826C>T (p.Pro3942=) rs760805332 0.00001
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln) rs558798136 0.00001
NM_005529.7(HSPG2):c.12016G>A (p.Glu4006Lys) rs113448590 0.00001
NM_005529.7(HSPG2):c.12345T>G (p.His4115Gln) rs1219506394 0.00001
NM_005529.7(HSPG2):c.12427G>A (p.Glu4143Lys) rs747563153 0.00001
NM_005529.7(HSPG2):c.13000A>G (p.Ile4334Val) rs779443131 0.00001
NM_005529.7(HSPG2):c.13032C>T (p.Thr4344=) rs778590896 0.00001
NM_005529.7(HSPG2):c.1508-10C>T rs765166428 0.00001
NM_005529.7(HSPG2):c.1508-15C>T rs750306743 0.00001
NM_005529.7(HSPG2):c.1609C>T (p.Arg537Trp) rs777781736 0.00001
NM_005529.7(HSPG2):c.1666A>T (p.Thr556Ser) rs769587805 0.00001
NM_005529.7(HSPG2):c.1676C>G (p.Ala559Gly) rs748179999 0.00001
NM_005529.7(HSPG2):c.1762C>T (p.Arg588Cys) rs778444704 0.00001
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.2039C>T (p.Ala680Val) rs374004974 0.00001
NM_005529.7(HSPG2):c.2092T>C (p.Tyr698His) rs773784309 0.00001
NM_005529.7(HSPG2):c.2147T>C (p.Val716Ala) rs374685217 0.00001
NM_005529.7(HSPG2):c.2195+4C>A rs1641399279 0.00001
NM_005529.7(HSPG2):c.2421G>A (p.Thr807=) rs148592148 0.00001
NM_005529.7(HSPG2):c.2568C>T (p.Pro856=) rs886046042 0.00001
NM_005529.7(HSPG2):c.2641G>A (p.Glu881Lys) rs768350322 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.2822C>T (p.Ala941Val) rs1042462225 0.00001
NM_005529.7(HSPG2):c.3196C>T (p.Arg1066Trp) rs145498664 0.00001
NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=) rs765575912 0.00001
NM_005529.7(HSPG2):c.3649G>C (p.Ala1217Pro) rs757364480 0.00001
NM_005529.7(HSPG2):c.4040A>C (p.His1347Pro) rs1234473043 0.00001
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg) rs1021698423 0.00001
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577 0.00001
NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=) rs768475262 0.00001
NM_005529.7(HSPG2):c.4749G>A (p.Gln1583=) rs773098995 0.00001
NM_005529.7(HSPG2):c.4895G>C (p.Gly1632Ala) rs748997723 0.00001
NM_005529.7(HSPG2):c.5615C>T (p.Pro1872Leu) rs746717616 0.00001
NM_005529.7(HSPG2):c.5913C>T (p.Arg1971=) rs896647347 0.00001
NM_005529.7(HSPG2):c.6076G>T (p.Val2026Leu) rs886046033 0.00001
NM_005529.7(HSPG2):c.6133+12C>T rs1330380330 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6629C>T (p.Pro2210Leu) rs946013860 0.00001
NM_005529.7(HSPG2):c.6648T>C (p.Tyr2216=) rs756830539 0.00001
NM_005529.7(HSPG2):c.6871-10G>A rs1342636987 0.00001
NM_005529.7(HSPG2):c.7036G>A (p.Glu2346Lys) rs371523455 0.00001
NM_005529.7(HSPG2):c.7119G>A (p.Thr2373=) rs764531754 0.00001
NM_005529.7(HSPG2):c.7165G>A (p.Gly2389Ser) rs765181959 0.00001
NM_005529.7(HSPG2):c.7751G>A (p.Arg2584Gln) rs779023853 0.00001
NM_005529.7(HSPG2):c.7872C>T (p.His2624=) rs749008859 0.00001
NM_005529.7(HSPG2):c.8143C>T (p.Pro2715Ser) rs776094320 0.00001
NM_005529.7(HSPG2):c.8203T>G (p.Ser2735Ala) rs762444406 0.00001
NM_005529.7(HSPG2):c.8205C>T (p.Ser2735=) rs773139137 0.00001
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) rs766807669 0.00001
NM_005529.7(HSPG2):c.9024C>T (p.Thr3008=) rs763389929 0.00001
NM_005529.7(HSPG2):c.9404T>A (p.Val3135Asp) rs371072729 0.00001
NM_005529.7(HSPG2):c.9594G>A (p.Val3198=) rs1460932486 0.00001
NM_005529.7(HSPG2):c.9694C>T (p.Arg3232Cys) rs767115080 0.00001
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_005585.5(SMAD6):c.560C>T (p.Ser187Leu) rs1359442505 0.00001
NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro) rs1213841516 0.00001
NM_005585.5(SMAD6):c.800G>A (p.Ser267Asn) rs1396117157 0.00001
NM_005850.5(SF3B4):c.716C>T (p.Pro239Leu) rs1553765987 0.00001
NM_006031.6(PCNT):c.*126A>G rs2053728715 0.00001
NM_006031.6(PCNT):c.1064A>G (p.Asp355Gly) rs753659648 0.00001
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) rs199864153 0.00001
NM_006031.6(PCNT):c.1737T>C (p.Asp579=) rs1170990391 0.00001
NM_006031.6(PCNT):c.2610-7G>A rs753811883 0.00001
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr) rs776133593 0.00001
NM_006031.6(PCNT):c.2842G>A (p.Glu948Lys) rs752300035 0.00001
NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln) rs544000220 0.00001
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 0.00001
NM_006031.6(PCNT):c.3626C>T (p.Thr1209Ile) rs772421309 0.00001
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) rs34012939 0.00001
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304 0.00001
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=) rs767908478 0.00001
NM_006031.6(PCNT):c.4462C>T (p.Arg1488Trp) rs371945746 0.00001
NM_006031.6(PCNT):c.4563+15C>T rs1234384421 0.00001
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val) rs766280665 0.00001
NM_006031.6(PCNT):c.4681G>A (p.Glu1561Lys) rs781526777 0.00001
NM_006031.6(PCNT):c.4697G>A (p.Arg1566His) rs776095839 0.00001
NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln) rs982539653 0.00001
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=) rs760142269 0.00001
NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met) rs768063203 0.00001
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp) rs759289691 0.00001
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167 0.00001
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=) rs752349556 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu) rs376147151 0.00001
NM_006031.6(PCNT):c.6192C>T (p.Val2064=) rs1229663143 0.00001
NM_006031.6(PCNT):c.6586G>A (p.Val2196Ile) rs375143479 0.00001
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro) rs369420036 0.00001
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly) rs886057190 0.00001
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu) rs747212974 0.00001
NM_006031.6(PCNT):c.71A>G (p.Gln24Arg) rs758228005 0.00001
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=) rs1292668105 0.00001
NM_006031.6(PCNT):c.7321-10C>T rs587784318 0.00001
NM_006031.6(PCNT):c.7588A>G (p.Met2530Val) rs749686283 0.00001
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=) rs372531708 0.00001
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=) rs766025734 0.00001
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684 0.00001
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=) rs776706307 0.00001
NM_006031.6(PCNT):c.862C>T (p.Arg288Cys) rs781317079 0.00001
NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp) rs766529116 0.00001
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His) rs139830890 0.00001
NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val) rs760545245 0.00001
NM_006031.6(PCNT):c.9628C>T (p.Arg3210Cys) rs374027088 0.00001
NM_006031.6(PCNT):c.9694C>T (p.Arg3232Cys) rs537151957 0.00001
NM_006129.5(BMP1):c.*121C>G rs1430030743 0.00001
NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln) rs772355766 0.00001
NM_006129.5(BMP1):c.1317G>A (p.Val439=) rs373100053 0.00001
NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys) rs373433474 0.00001
NM_006129.5(BMP1):c.1868C>T (p.Ala623Val) rs752330967 0.00001
NM_006129.5(BMP1):c.1938C>T (p.Tyr646=) rs763299873 0.00001
NM_006129.5(BMP1):c.2045G>A (p.Arg682His) rs199971581 0.00001
NM_006129.5(BMP1):c.2575+12G>A rs763277589 0.00001
NM_006129.5(BMP1):c.2622C>T (p.Tyr874=) rs886062820 0.00001
NM_006129.5(BMP1):c.421G>A (p.Gly141Arg) rs762726234 0.00001
NM_006129.5(BMP1):c.455G>A (p.Arg152Gln) rs376680208 0.00001
NM_006129.5(BMP1):c.962-18C>G rs200412717 0.00001
NM_006182.4(DDR2):c.*42C>A rs886045498 0.00001
NM_006182.4(DDR2):c.1142C>G (p.Pro381Arg) rs753466072 0.00001
NM_006182.4(DDR2):c.1831C>T (p.Arg611Ter) rs928746429 0.00001
NM_006182.4(DDR2):c.2237G>A (p.Arg746Gln) rs771259035 0.00001
NM_006182.4(DDR2):c.2255G>A (p.Arg752His) rs1374086542 0.00001
NM_006182.4(DDR2):c.2504A>G (p.Asp835Gly) rs141409742 0.00001
NM_006182.4(DDR2):c.2T>G (p.Met1Arg) rs369864432 0.00001
NM_006182.4(DDR2):c.520A>G (p.Met174Val) rs1384006128 0.00001
NM_006182.4(DDR2):c.833T>A (p.Ile278Asn) rs1261057547 0.00001
NM_006182.4(DDR2):c.919C>T (p.Arg307Cys) rs775988886 0.00001
NM_006182.4(DDR2):c.978C>T (p.Asp326=) rs766364700 0.00001
NM_006265.3(RAD21):c.1189G>A (p.Val397Ile) rs371948457 0.00001
NM_006265.3(RAD21):c.1320C>T (p.Ile440=) rs776397992 0.00001
NM_006265.3(RAD21):c.1349G>A (p.Arg450His) rs1051321465 0.00001
NM_006265.3(RAD21):c.1446A>T (p.Gln482His) rs756283022 0.00001
NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala) rs762827934 0.00001
NM_006265.3(RAD21):c.687A>C (p.Leu229Phe) rs774987531 0.00001
NM_006265.3(RAD21):c.745T>C (p.Ser249Pro) rs138762840 0.00001
NM_006306.4(SMC1A):c.*2086T>C rs1173339282 0.00001
NM_006306.4(SMC1A):c.*3596C>T rs2075560234 0.00001
NM_006306.4(SMC1A):c.*3671C>T rs1057515959 0.00001
NM_006306.4(SMC1A):c.*41G>A rs782548345 0.00001
NM_006306.4(SMC1A):c.*5251G>T rs188308804 0.00001
NM_006306.4(SMC1A):c.*5451A>G rs782308559 0.00001
NM_006306.4(SMC1A):c.*5692G>A rs1057515952 0.00001
NM_006306.4(SMC1A):c.*5855G>T rs1289923605 0.00001
NM_006306.4(SMC1A):c.1254+5G>A rs1569358589 0.00001
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln) rs1556890153 0.00001
NM_006306.4(SMC1A):c.1911+7A>G rs2075687773 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln) rs782733394 0.00001
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=) rs587784414 0.00001
NM_006306.4(SMC1A):c.2862+4A>C rs1445281439 0.00001
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile) rs1556887779 0.00001
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr) rs1239033094 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile) rs782084021 0.00001
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe) rs781998306 0.00001
NM_006306.4(SMC1A):c.386A>G (p.Lys129Arg) rs1223252947 0.00001
NM_006306.4(SMC1A):c.392G>A (p.Arg131His) rs781903928 0.00001
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val) rs1556890833 0.00001
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys) rs782209409 0.00001
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp) rs781812690 0.00001
NM_006371.4(CRTAP):c.-119G>A rs900256700 0.00001
NM_006371.4(CRTAP):c.-88C>T rs549258892 0.00001
NM_006371.5(CRTAP):c.*1608A>G rs904905604 0.00001
NM_006371.5(CRTAP):c.*1614G>A rs886058360 0.00001
NM_006371.5(CRTAP):c.*1853A>G rs1430038230 0.00001
NM_006371.5(CRTAP):c.*2071A>G rs969150344 0.00001
NM_006371.5(CRTAP):c.*2113A>G rs774529962 0.00001
NM_006371.5(CRTAP):c.*2435T>G rs1370062497 0.00001
NM_006371.5(CRTAP):c.*2829C>G rs1412857097 0.00001
NM_006371.5(CRTAP):c.*2976C>T rs886058366 0.00001
NM_006371.5(CRTAP):c.*3113G>A rs886058367 0.00001
NM_006371.5(CRTAP):c.*3224T>C rs886058368 0.00001
NM_006371.5(CRTAP):c.*496A>G rs1414037282 0.00001
NM_006371.5(CRTAP):c.*670G>A rs558551071 0.00001
NM_006371.5(CRTAP):c.-35C>T rs567359532 0.00001
NM_006371.5(CRTAP):c.1022A>G (p.His341Arg) rs781545232 0.00001
NM_006371.5(CRTAP):c.1138A>G (p.Met380Val) rs2030358355 0.00001
NM_006371.5(CRTAP):c.125T>C (p.Met42Thr) rs761551356 0.00001
NM_006371.5(CRTAP):c.157G>C (p.Asp53His) rs752802071 0.00001
NM_006371.5(CRTAP):c.170G>A (p.Gly57Asp) rs747689884 0.00001
NM_006371.5(CRTAP):c.17G>T (p.Arg6Leu) rs780490905 0.00001
NM_006371.5(CRTAP):c.20G>C (p.Gly7Ala) rs886044235 0.00001
NM_006371.5(CRTAP):c.239G>A (p.Ser80Asn) rs754916341 0.00001
NM_006371.5(CRTAP):c.271G>C (p.Ala91Pro) rs886058345 0.00001
NM_006371.5(CRTAP):c.325T>C (p.Phe109Leu) rs775914088 0.00001
NM_006371.5(CRTAP):c.344G>A (p.Arg115His) rs867761925 0.00001
NM_006371.5(CRTAP):c.371A>G (p.Gln124Arg) rs752605909 0.00001
NM_006371.5(CRTAP):c.388C>T (p.Arg130Cys) rs969878155 0.00001
NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu) rs137853938 0.00001
NM_006371.5(CRTAP):c.429G>T (p.Gln143His) rs766390490 0.00001
NM_006371.5(CRTAP):c.469A>C (p.Lys157Gln) rs137853942 0.00001
NM_006371.5(CRTAP):c.496G>A (p.Ala166Thr) rs1436939742 0.00001
NM_006371.5(CRTAP):c.528T>G (p.Pro176=) rs774680682 0.00001
NM_006371.5(CRTAP):c.535G>A (p.Glu179Lys) rs953081958 0.00001
NM_006371.5(CRTAP):c.622-3C>G rs563594799 0.00001
NM_006371.5(CRTAP):c.643C>T (p.Arg215Trp) rs149281572 0.00001
NM_006371.5(CRTAP):c.677T>A (p.Ile226Asn) rs2029999836 0.00001
NM_006371.5(CRTAP):c.68C>T (p.Ala23Val) rs1401887028 0.00001
NM_006371.5(CRTAP):c.70G>A (p.Gly24Arg) rs763727738 0.00001
NM_006371.5(CRTAP):c.751A>G (p.Arg251Gly) rs1351893746 0.00001
NM_006371.5(CRTAP):c.889A>G (p.Met297Val) rs761161112 0.00001
NM_006371.5(CRTAP):c.928G>A (p.Asp310Asn) rs111525897 0.00001
NM_006371.5(CRTAP):c.92A>G (p.Tyr31Cys) rs372115693 0.00001
NM_006371.5(CRTAP):c.953C>T (p.Ala318Val) rs114178925 0.00001
NM_006371.5(CRTAP):c.986A>G (p.Lys329Arg) rs757967789 0.00001
NM_006494.4(ERF):c.1300G>A (p.Glu434Lys) rs749808726 0.00001
NM_006494.4(ERF):c.373+8C>T rs368794183 0.00001
NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser) rs1044282559 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp) rs1296782375 0.00001
NM_006854.4(KDELR2):c.505C>T (p.Arg169Cys) rs1363157649 0.00001
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser) rs758025995 0.00001
NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe) rs774917613 0.00001
NM_007255.3(B4GALT7):c.639+5G>A rs1421361359 0.00001
NM_007255.3(B4GALT7):c.685G>A (p.Asp229Asn) rs753374573 0.00001
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300 0.00001
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386 0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val) rs587781768 0.00001
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) rs141255461 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met) rs587782747 0.00001
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg) rs748156170 0.00001
NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn) rs1461250681 0.00001
NM_007317.3(KIF22):c.1387A>G (p.Thr463Ala) rs757545358 0.00001
NM_007317.3(KIF22):c.1647C>G (p.His549Gln) rs142414573 0.00001
NM_007317.3(KIF22):c.1818T>G (p.Ser606Arg) rs141198653 0.00001
NM_007317.3(KIF22):c.641C>A (p.Pro214His) rs1024180320 0.00001
NM_007317.3(KIF22):c.8C>T (p.Ala3Val) rs755405115 0.00001
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg) rs1842093971 0.00001
NM_012330.4(KAT6B):c.119A>G (p.His40Arg) rs1367725176 0.00001
NM_012330.4(KAT6B):c.1387C>T (p.Arg463Cys) rs1222902525 0.00001
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu) rs965354059 0.00001
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg) rs1019373559 0.00001
NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys) rs756038238 0.00001
NM_012330.4(KAT6B):c.1727A>C (p.Glu576Ala) rs990047621 0.00001
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) rs773318837 0.00001
NM_012330.4(KAT6B):c.2014A>G (p.Ile672Val) rs757770040 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2116-9A>G rs747646395 0.00001
NM_012330.4(KAT6B):c.2143G>C (p.Asp715His) rs1842357931 0.00001
NM_012330.4(KAT6B):c.2734G>A (p.Glu912Lys) rs375276786 0.00001
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) rs753695521 0.00001
NM_012330.4(KAT6B):c.3523A>G (p.Thr1175Ala) rs1389778097 0.00001
NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu) rs201828896 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.385A>G (p.Ile129Val) rs778694892 0.00001
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) rs377300582 0.00001
NM_012330.4(KAT6B):c.4225G>A (p.Glu1409Lys) rs370657796 0.00001
NM_012330.4(KAT6B):c.4271A>G (p.His1424Arg) rs529353814 0.00001
NM_012330.4(KAT6B):c.452G>A (p.Arg151Gln) rs761606204 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.5138G>A (p.Ser1713Asn) rs1211985137 0.00001
NM_012330.4(KAT6B):c.5386G>A (p.Glu1796Lys) rs201792033 0.00001
NM_012330.4(KAT6B):c.5426C>T (p.Pro1809Leu) rs780359970 0.00001
NM_012330.4(KAT6B):c.5662C>T (p.Pro1888Ser) rs372648542 0.00001
NM_012330.4(KAT6B):c.5809G>T (p.Ala1937Ser) rs772444140 0.00001
NM_012330.4(KAT6B):c.5971G>A (p.Ala1991Thr) rs774281154 0.00001
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) rs141200092 0.00001
NM_012330.4(KAT6B):c.6163G>A (p.Gly2055Ser) rs201636977 0.00001
NM_012330.4(KAT6B):c.621+6C>T rs754457692 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012330.4(KAT6B):c.782C>T (p.Ala261Val) rs935089030 0.00001
NM_012463.4(ATP6V0A2):c.*2039C>G rs886049069 0.00001
NM_012463.4(ATP6V0A2):c.*3262G>A rs1593929112 0.00001
NM_012463.4(ATP6V0A2):c.*3684C>T rs1051636200 0.00001
NM_012463.4(ATP6V0A2):c.*3707A>G rs1203316393 0.00001
NM_012463.4(ATP6V0A2):c.*434T>A rs886049065 0.00001
NM_012463.4(ATP6V0A2):c.*706T>G rs1288578795 0.00001
NM_012463.4(ATP6V0A2):c.-114G>A rs1264181324 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) rs757775762 0.00001
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) rs148307049 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2176-5C>G rs201910056 0.00001
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186 0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) rs769901746 0.00001
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) rs775425809 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1706C>T (p.Ala569Val) rs779958041 0.00001
NM_014140.3(SMARCAL1):c.-300G>C rs549159106 0.00001
NM_014140.4(SMARCAL1):c.-170C>T rs886055614 0.00001
NM_014140.4(SMARCAL1):c.1028T>C (p.Phe343Ser) rs1403239152 0.00001
NM_014140.4(SMARCAL1):c.1064C>T (p.Ala355Val) rs772913825 0.00001
NM_014140.4(SMARCAL1):c.1327G>C (p.Gly443Arg) rs772817540 0.00001
NM_014140.4(SMARCAL1):c.1334+4G>A rs376469384 0.00001
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268 0.00001
NM_014140.4(SMARCAL1):c.1369G>A (p.Ala457Thr) rs778972713 0.00001
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186 0.00001
NM_014140.4(SMARCAL1):c.1411A>G (p.Ile471Val) rs770049590 0.00001
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) rs758367100 0.00001
NM_014140.4(SMARCAL1):c.1465G>A (p.Val489Met) rs745494010 0.00001
NM_014140.4(SMARCAL1):c.1500G>T (p.Trp500Cys) rs1694058553 0.00001
NM_014140.4(SMARCAL1):c.154G>C (p.Gly52Arg) rs768891693 0.00001
NM_014140.4(SMARCAL1):c.1553G>A (p.Arg518His) rs774075396 0.00001
NM_014140.4(SMARCAL1):c.1602G>T (p.Lys534Asn) rs1694060940 0.00001
NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn) rs753062232 0.00001
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val) rs781453232 0.00001
NM_014140.4(SMARCAL1):c.1642_1644del (p.Ile548del) rs1475737999 0.00001
NM_014140.4(SMARCAL1):c.1688G>A (p.Arg563Gln) rs770947829 0.00001
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr) rs765026783 0.00001
NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val) rs1694331950 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.1762G>T (p.Ala588Ser) rs769553029 0.00001
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342 0.00001
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) rs148893764 0.00001
NM_014140.4(SMARCAL1):c.1985T>C (p.Val662Ala) rs749447889 0.00001
NM_014140.4(SMARCAL1):c.221A>G (p.Gln74Arg) rs1441502670 0.00001
NM_014140.4(SMARCAL1):c.2244G>A (p.Lys748=) rs765641883 0.00001
NM_014140.4(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517 0.00001
NM_014140.4(SMARCAL1):c.2266G>A (p.Asp756Asn) rs545627649 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=) rs1322248626 0.00001
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu) rs149425324 0.00001
NM_014140.4(SMARCAL1):c.2356G>A (p.Ala786Thr) rs763369356 0.00001
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu) rs1346269253 0.00001
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His) rs1172616375 0.00001
NM_014140.4(SMARCAL1):c.2497G>A (p.Val833Met) rs756015461 0.00001
NM_014140.4(SMARCAL1):c.2554G>A (p.Val852Ile) rs143378530 0.00001
NM_014140.4(SMARCAL1):c.2600C>T (p.Thr867Ile) rs752153044 0.00001
NM_014140.4(SMARCAL1):c.2644A>G (p.Ile882Val) rs752187073 0.00001
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn) rs763712548 0.00001
NM_014140.4(SMARCAL1):c.2690T>C (p.Met897Thr) rs140370927 0.00001
NM_014140.4(SMARCAL1):c.2764A>G (p.Met922Val) rs767258073 0.00001
NM_014140.4(SMARCAL1):c.2834A>G (p.Asp945Gly) rs1163886519 0.00001
NM_014140.4(SMARCAL1):c.2837A>C (p.Asn946Thr) rs1457757664 0.00001
NM_014140.4(SMARCAL1):c.2852C>T (p.Thr951Met) rs751084968 0.00001
NM_014140.4(SMARCAL1):c.368C>G (p.Ser123Cys) rs1195278398 0.00001
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu) rs762590281 0.00001
NM_014140.4(SMARCAL1):c.41A>T (p.Glu14Val) rs1693548931 0.00001
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697 0.00001
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His) rs774029345 0.00001
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser) rs1265303129 0.00001
NM_014140.4(SMARCAL1):c.565A>G (p.Lys189Glu) rs754147208 0.00001
NM_014140.4(SMARCAL1):c.59C>G (p.Ala20Gly) rs1386481163 0.00001
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys) rs753690688 0.00001
NM_014140.4(SMARCAL1):c.68G>A (p.Arg23His) rs866396456 0.00001
NM_014140.4(SMARCAL1):c.709C>A (p.Gln237Lys) rs754790488 0.00001
NM_014140.4(SMARCAL1):c.764A>G (p.Asn255Ser) rs1285863511 0.00001
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=) rs1288231534 0.00001
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu) rs754882213 0.00001
NM_014140.4(SMARCAL1):c.884C>T (p.Pro295Leu) rs1297497711 0.00001
NM_014140.4(SMARCAL1):c.887C>T (p.Thr296Met) rs755708465 0.00001
NM_014140.4(SMARCAL1):c.949G>A (p.Glu317Lys) rs1431549731 0.00001
NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu) rs267602206 0.00001
NM_014694.4(ADAMTSL2):c.-151+2T>C rs1432091144 0.00001
NM_014762.4(DHCR24):c.*125A>G rs914940982 0.00001
NM_014762.4(DHCR24):c.*1876T>C rs972764548 0.00001
NM_014762.4(DHCR24):c.*2468T>C rs1308283692 0.00001
NM_014762.4(DHCR24):c.*2503C>T rs886046412 0.00001
NM_014762.4(DHCR24):c.*2514A>G rs532882730 0.00001
NM_014762.4(DHCR24):c.1331G>A (p.Arg444His) rs747327620 0.00001
NM_014762.4(DHCR24):c.1431C>T (p.Asn477=) rs1453549055 0.00001
NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp) rs776954529 0.00001
NM_014762.4(DHCR24):c.712G>A (p.Val238Ile) rs886046421 0.00001
NM_014762.4(DHCR24):c.798C>T (p.Phe266=) rs142421002 0.00001
NM_015139.3(SLC35D1):c.37A>G (p.Lys13Glu) rs1312681860 0.00001
NM_015139.3(SLC35D1):c.776T>A (p.Phe259Tyr) rs553561259 0.00001
NM_015139.3(SLC35D1):c.812A>G (p.Tyr271Cys) rs752637008 0.00001
NM_015139.3(SLC35D1):c.84G>C (p.Glu28Asp) rs569279392 0.00001
NM_015386.3(COG4):c.490C>T (p.Arg164Cys) rs769331901 0.00001
NM_015425.6(POLR1A):c.1543C>T (p.Arg515Ter) rs1673257008 0.00001
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His) rs1267547707 0.00001
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala) rs768480385 0.00001
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly) rs745968146 0.00001
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe) rs931265396 0.00001
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987 0.00001
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln) rs1314333060 0.00001
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg) rs1194762228 0.00001
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429 0.00001
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val) rs142986132 0.00001
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg) rs773447066 0.00001
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser) rs775556315 0.00001
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser) rs2097942068 0.00001
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser) rs1273735180 0.00001
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile) rs767733835 0.00001
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu) rs756561177 0.00001
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter) rs771745084 0.00001
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val) rs747933488 0.00001
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del) rs891059654 0.00001
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) rs768523448 0.00001
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) rs746968875 0.00001
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr) rs999127884 0.00001
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr) rs1391185443 0.00001
NM_015631.6(TCTN3):c.381-3C>T rs546476903 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.627G>A (p.Arg209=) rs752918067 0.00001
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala) rs780438906 0.00001
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849 0.00001
NM_015631.6(TCTN3):c.879G>C (p.Gln293His) rs147928670 0.00001
NM_015631.6(TCTN3):c.883A>G (p.Met295Val) rs746046233 0.00001
NM_015631.6(TCTN3):c.894G>C (p.Gln298His) rs1464905299 0.00001
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys) rs971089853 0.00001
NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln) rs369569682 0.00001
NM_015909.4(NBAS):c.4295T>C (p.Val1432Ala) rs769425183 0.00001
NM_015909.4(NBAS):c.5297T>C (p.Leu1766Pro) rs1294584287 0.00001
NM_016277.5(RAB23):c.*145T>C rs189570356 0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=) rs759497648 0.00001
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565 0.00001
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro) rs766250966 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) rs756536052 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys) rs779061035 0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142 0.00001
NM_017617.5(NOTCH1):c.1636G>A (p.Gly546Arg) rs764185451 0.00001
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu) rs771263341 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr) rs771440130 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 0.00001
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) rs886039014 0.00001
NM_017617.5(NOTCH1):c.1903+6C>T rs753388966 0.00001
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val) rs1307313338 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) rs1385815860 0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn) rs950236535 0.00001
NM_017617.5(NOTCH1):c.2207+5G>A rs1214619547 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg) rs777663026 0.00001
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr) rs759862433 0.00001
NM_017617.5(NOTCH1):c.2597G>C (p.Cys866Ser) rs763469662 0.00001
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn) rs1420968156 0.00001
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys) rs762050048 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00001
NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser) rs1181594680 0.00001
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg) rs1397562033 0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566 0.00001
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser) rs780582836 0.00001
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys) rs1386494518 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys) rs1060502239 0.00001
NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile) rs1308100068 0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) rs769903954 0.00001
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg) rs754086177 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3644-7C>G rs1243301340 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met) rs926643780 0.00001
NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys) rs1415111675 0.00001
NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser) rs1281437674 0.00001
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=) rs777242726 0.00001
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) rs1249540119 0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212 0.00001
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser) rs748933222 0.00001
NM_017617.5(NOTCH1):c.4052C>T (p.Thr1351Ile) rs1357611221 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser) rs1210347209 0.00001
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) rs1348438354 0.00001
NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg) rs1255471066 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) rs766362765 0.00001
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His) rs367589813 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser) rs750808945 0.00001
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr) rs1438164851 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=) rs370713185 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) rs746431035 0.00001
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His) rs778271353 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790 0.00001
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser) rs1439038323 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala) rs1843012616 0.00001
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208 0.00001
NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp) rs1843010487 0.00001
NM_017617.5(NOTCH1):c.5384+6C>T rs747363366 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg) rs1425070721 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys) rs1446708596 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val) rs374787627 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys) rs1440167765 0.00001
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) rs1371022203 0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890 0.00001
NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met) rs773137647 0.00001
NM_017617.5(NOTCH1):c.6025G>A (p.Gly2009Ser) rs1842960316 0.00001
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106 0.00001
NM_017617.5(NOTCH1):c.6067G>A (p.Ala2023Thr) rs1181025067 0.00001
NM_017617.5(NOTCH1):c.6082+6C>T rs1842959338 0.00001
NM_017617.5(NOTCH1):c.6119A>G (p.Asn2040Ser) rs780257585 0.00001
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=) rs761295801 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His) rs759998676 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) rs777219891 0.00001
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp) rs1842933513 0.00001
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693 0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.6595C>T (p.Pro2199Ser) rs988164569 0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464 0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922 0.00001
NM_017617.5(NOTCH1):c.6748G>T (p.Ala2250Ser) rs1436539393 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) rs1204397173 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu) rs1223321022 0.00001
NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly) rs1842924133 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro) rs869025260 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His) rs369935287 0.00001
NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn) rs550554578 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074 0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) rs746658493 0.00001
NM_017617.5(NOTCH1):c.7172A>T (p.Gln2391Leu) rs1169052272 0.00001
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys) rs1842917968 0.00001
NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu) rs1842916834 0.00001
NM_017617.5(NOTCH1):c.7273G>A (p.Ala2425Thr) rs1364332299 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile) rs1358523874 0.00001
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile) rs1373474592 0.00001
NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr) rs757165853 0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439 0.00001
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147 0.00001
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) rs1554826328 0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) rs761156723 0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00001
NM_017617.5(NOTCH1):c.865+5G>A rs1307085130 0.00001
NM_017617.5(NOTCH1):c.866-3C>T rs950602055 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_018010.4(IFT57):c.1168A>G (p.Met390Val) rs1168796234 0.00001
NM_018060.4(IARS2):c.601C>T (p.Arg201Cys) rs768101579 0.00001
NM_018062.4(FANCL):c.1065A>G (p.Ile355Met) rs147860433 0.00001
NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys) rs773869051 0.00001
NM_018062.4(FANCL):c.121G>T (p.Val41Leu) rs763523035 0.00001
NM_018062.4(FANCL):c.155+4A>G rs1264877990 0.00001
NM_018062.4(FANCL):c.173A>G (p.Gln58Arg) rs1363031365 0.00001
NM_018062.4(FANCL):c.182C>G (p.Thr61Arg) rs1315405264 0.00001
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys) rs200306031 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly) rs146690827 0.00001
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu) rs746623168 0.00001
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser) rs754028115 0.00001
NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys) rs757683704 0.00001
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr) rs1060501895 0.00001
NM_018062.4(FANCL):c.354A>G (p.Ile118Met) rs1371125510 0.00001
NM_018062.4(FANCL):c.355G>A (p.Gly119Arg) rs764393410 0.00001
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu) rs1032497636 0.00001
NM_018062.4(FANCL):c.386C>T (p.Ala129Val) rs771495568 0.00001
NM_018062.4(FANCL):c.394T>C (p.Cys132Arg) rs748298862 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly) rs369876807 0.00001
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro) rs1694519859 0.00001
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp) rs749411866 0.00001
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg) rs770063294 0.00001
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg) rs773768206 0.00001
NM_018062.4(FANCL):c.541-3C>T rs759711454 0.00001
NM_018062.4(FANCL):c.554G>C (p.Ser185Thr) rs560205327 0.00001
NM_018062.4(FANCL):c.598T>A (p.Phe200Ile) rs199660431 0.00001
NM_018062.4(FANCL):c.611T>C (p.Met204Thr) rs368900762 0.00001
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe) rs765926796 0.00001
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln) rs761742545 0.00001
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly) rs778068203 0.00001
NM_018062.4(FANCL):c.691+3A>G rs1159902512 0.00001
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp) rs1558737546 0.00001
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe) rs1202806362 0.00001
NM_018062.4(FANCL):c.775+3A>T rs975755966 0.00001
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr) rs1685420223 0.00001
NM_018062.4(FANCL):c.860T>G (p.Val287Gly) rs61757387 0.00001
NM_018062.4(FANCL):c.881C>T (p.Ala294Val) rs756695293 0.00001
NM_018062.4(FANCL):c.884G>A (p.Arg295His) rs375526911 0.00001
NM_018062.4(FANCL):c.96+3A>T rs764782273 0.00001
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro) rs746967598 0.00001
NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser) rs773701779 0.00001
NM_018475.5(TMEM165):c.*436T>C rs903973357 0.00001
NM_018475.5(TMEM165):c.226G>C (p.Ala76Pro) rs1312894231 0.00001
NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys) rs387907222 0.00001
NM_018475.5(TMEM165):c.40C>T (p.Pro14Ser) rs1018878795 0.00001
NM_018475.5(TMEM165):c.617G>A (p.Arg206Gln) rs200205156 0.00001
NM_018475.5(TMEM165):c.652A>G (p.Thr218Ala) rs1721802537 0.00001
NM_018475.5(TMEM165):c.811G>A (p.Val271Met) rs764212150 0.00001
NM_018475.5(TMEM165):c.97G>A (p.Ala33Thr) rs1021277116 0.00001
NM_018486.3(HDAC8):c.835A>G (p.Met279Val) rs1555993170 0.00001
NM_019885.4(CYP26B1):c.1179G>T (p.Met393Ile) rs1341772264 0.00001
NM_019885.4(CYP26B1):c.344C>T (p.Thr115Ile) rs1281765906 0.00001
NM_019885.4(CYP26B1):c.74_77dup (p.Val28fs) rs771651519 0.00001
NM_020297.4(ABCC9):c.1012-2A>G rs1345994016 0.00001
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val) rs567016348 0.00001
NM_020297.4(ABCC9):c.1147C>T (p.Leu383Phe) rs755542764 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.1659+10T>C rs201753781 0.00001
NM_020297.4(ABCC9):c.1743G>A (p.Leu581=) rs777049470 0.00001
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) rs727502873 0.00001
NM_020297.4(ABCC9):c.1877T>C (p.Leu626Pro) rs1002300338 0.00001
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253 0.00001
NM_020297.4(ABCC9):c.2158G>A (p.Gly720Ser) rs542184069 0.00001
NM_020297.4(ABCC9):c.2199-6T>C rs535477725 0.00001
NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala) rs201223488 0.00001
NM_020297.4(ABCC9):c.2769+12T>C rs564071879 0.00001
NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp) rs922212635 0.00001
NM_020297.4(ABCC9):c.3556C>T (p.Arg1186Trp) rs886049169 0.00001
NM_020297.4(ABCC9):c.3669+10T>C rs199640712 0.00001
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) rs727505161 0.00001
NM_020297.4(ABCC9):c.4103-14T>C rs1462468885 0.00001
NM_020297.4(ABCC9):c.4189A>G (p.Ile1397Val) rs1162169303 0.00001
NM_020297.4(ABCC9):c.4316-14T>G rs886049168 0.00001
NM_020297.4(ABCC9):c.466T>C (p.Cys156Arg) rs886049173 0.00001
NM_020297.4(ABCC9):c.5G>A (p.Ser2Asn) rs1359649036 0.00001
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln) rs753456211 0.00001
NM_020436.5(SALL4):c.1005T>C (p.Leu335=) rs150350828 0.00001
NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn) rs1010416849 0.00001
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) rs769115027 0.00001
NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu) rs746614693 0.00001
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) rs780276827 0.00001
NM_020436.5(SALL4):c.536C>G (p.Thr179Ser) rs201303046 0.00001
NM_020754.4(ARHGAP31):c.3007G>A (p.Ala1003Thr) rs761910919 0.00001
NM_020779.4(WDR35):c.*2228C>T rs1669828408 0.00001
NM_020779.4(WDR35):c.*2288C>T rs886055398 0.00001
NM_020779.4(WDR35):c.*2725G>T rs886055396 0.00001
NM_020779.4(WDR35):c.*2726A>G rs886055395 0.00001
NM_020779.4(WDR35):c.*2748G>T rs886055394 0.00001
NM_020779.4(WDR35):c.*380G>A rs886055401 0.00001
NM_020779.4(WDR35):c.*747C>T rs1451842817 0.00001
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met) rs200341288 0.00001
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) rs772365561 0.00001
NM_020779.4(WDR35):c.1104A>G (p.Lys368=) rs745634789 0.00001
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr) rs780584500 0.00001
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala) rs1371644144 0.00001
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val) rs1671332812 0.00001
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro) rs771656961 0.00001
NM_020779.4(WDR35):c.1470+6T>C rs1162916086 0.00001
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val) rs398123536 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln) rs750367225 0.00001
NM_020779.4(WDR35):c.2165G>A (p.Arg722His) rs758991146 0.00001
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln) rs748476979 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2267+9T>C rs376307803 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.2298G>A (p.Leu766=) rs1287745296 0.00001
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser) rs777217654 0.00001
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly) rs199849430 0.00001
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) rs370706293 0.00001
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp) rs149815363 0.00001
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln) rs754997630 0.00001
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr) rs776936691 0.00001
NM_020779.4(WDR35):c.308G>T (p.Gly103Val) rs886055406 0.00001
NM_020779.4(WDR35):c.3122-3T>C rs751769266 0.00001
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr) rs759338583 0.00001
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925 0.00001
NM_020779.4(WDR35):c.485T>C (p.Val162Ala) rs754439440 0.00001
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu) rs1410550467 0.00001
NM_020779.4(WDR35):c.722A>G (p.His241Arg) rs138366348 0.00001
NM_020779.4(WDR35):c.847G>A (p.Val283Met) rs576085633 0.00001
NM_020779.4(WDR35):c.976A>G (p.Ile326Val) rs1438742194 0.00001
NM_020812.4(DOCK6):c.281C>T (p.Thr94Ile) rs747666106 0.00001
NM_020928.2(ZSWIM6):c.1781A>G (p.Asn594Ser) rs1257102056 0.00001
NM_020928.2(ZSWIM6):c.2281C>T (p.Arg761Trp) rs756935198 0.00001
NM_020937.4(FANCM):c.1021T>C (p.Phe341Leu) rs1282418362 0.00001
NM_020937.4(FANCM):c.1032C>A (p.Asn344Lys) rs757823478 0.00001
NM_020937.4(FANCM):c.106G>A (p.Gly36Ser) rs1416346759 0.00001
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys) rs746643140 0.00001
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly) rs762845761 0.00001
NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu) rs765686151 0.00001
NM_020937.4(FANCM):c.1178C>T (p.Thr393Ile) rs1029198668 0.00001
NM_020937.4(FANCM):c.119C>G (p.Ala40Gly) rs750184645 0.00001
NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys) rs150574630 0.00001
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) rs139726733 0.00001
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr) rs763653491 0.00001
NM_020937.4(FANCM):c.1353G>T (p.Lys451Asn) rs771239660 0.00001
NM_020937.4(FANCM):c.1393A>T (p.Asn465Tyr) rs776166350 0.00001
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) rs747572587 0.00001
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) rs543029493 0.00001
NM_020937.4(FANCM):c.1439T>C (p.Met480Thr) rs776804525 0.00001
NM_020937.4(FANCM):c.1440G>C (p.Met480Ile) rs893380700 0.00001
NM_020937.4(FANCM):c.1462A>G (p.Ser488Gly) rs374988842 0.00001
NM_020937.4(FANCM):c.1493A>G (p.Gln498Arg) rs541543025 0.00001
NM_020937.4(FANCM):c.1509T>G (p.Ile503Met) rs764033368 0.00001
NM_020937.4(FANCM):c.1516A>G (p.Met506Val) rs758763305 0.00001
NM_020937.4(FANCM):c.1566G>T (p.Gln522His) rs763980494 0.00001
NM_020937.4(FANCM):c.1598G>A (p.Arg533His) rs1183879113 0.00001
NM_020937.4(FANCM):c.1600G>A (p.Asp534Asn) rs1392286222 0.00001
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp) rs201076487 0.00001
NM_020937.4(FANCM):c.1616C>T (p.Thr539Met) rs758046969 0.00001
NM_020937.4(FANCM):c.1654A>G (p.Ile552Val) rs1416236626 0.00001
NM_020937.4(FANCM):c.1655T>C (p.Ile552Thr) rs200240871 0.00001
NM_020937.4(FANCM):c.1703T>C (p.Ile568Thr) rs764204806 0.00001
NM_020937.4(FANCM):c.1708C>T (p.Leu570Phe) rs1473955115 0.00001
NM_020937.4(FANCM):c.1735C>T (p.Arg579Cys) rs149698772 0.00001
NM_020937.4(FANCM):c.1753A>G (p.Ile585Val) rs772284228 0.00001
NM_020937.4(FANCM):c.1765C>T (p.Leu589Phe) rs764151493 0.00001
NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys) rs765671208 0.00001
NM_020937.4(FANCM):c.1805A>G (p.Gln602Arg) rs1343909660 0.00001
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly) rs763557682 0.00001
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu) rs757274359 0.00001
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser) rs1015238529 0.00001
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys) rs763357840 0.00001
NM_020937.4(FANCM):c.1949A>C (p.Glu650Ala) rs771567101 0.00001
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys) rs148250143 0.00001
NM_020937.4(FANCM):c.2002+5A>G rs1888042696 0.00001
NM_020937.4(FANCM):c.2005A>T (p.Met669Leu) rs1888274673 0.00001
NM_020937.4(FANCM):c.201G>T (p.Gln67His) rs761398438 0.00001
NM_020937.4(FANCM):c.2066A>G (p.Asn689Ser) rs1317308859 0.00001
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly) rs991105099 0.00001
NM_020937.4(FANCM):c.2177C>T (p.Thr726Ile) rs1171394901 0.00001
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg) rs765227168 0.00001
NM_020937.4(FANCM):c.2215T>C (p.Trp739Arg) rs1407263617 0.00001
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala) rs764033302 0.00001
NM_020937.4(FANCM):c.2244A>G (p.Gln748=) rs751605791 0.00001
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln) rs529256568 0.00001
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys) rs756870111 0.00001
NM_020937.4(FANCM):c.2275A>G (p.Ile759Val) rs1431873616 0.00001
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala) rs149856496 0.00001
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr) rs753797551 0.00001
NM_020937.4(FANCM):c.235G>C (p.Ala79Pro) rs1885491442 0.00001
NM_020937.4(FANCM):c.2361G>A (p.Met787Ile) rs201921949 0.00001
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met) rs769468991 0.00001
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala) rs144771929 0.00001
NM_020937.4(FANCM):c.2392A>G (p.Arg798Gly) rs772286894 0.00001
NM_020937.4(FANCM):c.2423C>T (p.Thr808Ile) rs200194850 0.00001
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp) rs765507230 0.00001
NM_020937.4(FANCM):c.2485G>T (p.Val829Leu) rs754426327 0.00001
NM_020937.4(FANCM):c.2602A>G (p.Lys868Glu) rs770342366 0.00001
NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp) rs1453998176 0.00001
NM_020937.4(FANCM):c.2613T>G (p.Asn871Lys) rs1453404140 0.00001
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val) rs766902093 0.00001
NM_020937.4(FANCM):c.2621T>C (p.Ile874Thr) rs774139592 0.00001
NM_020937.4(FANCM):c.2635G>C (p.Asp879His) rs375959944 0.00001
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala) rs1182429346 0.00001
NM_020937.4(FANCM):c.2672A>C (p.Gln891Pro) rs753820999 0.00001
NM_020937.4(FANCM):c.2692A>G (p.Lys898Glu) rs747219710 0.00001
NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys) rs755241883 0.00001
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val) rs770155583 0.00001
NM_020937.4(FANCM):c.2725A>G (p.Thr909Ala) rs1475086312 0.00001
NM_020937.4(FANCM):c.2750T>C (p.Ile917Thr) rs753772148 0.00001
NM_020937.4(FANCM):c.2752A>G (p.Lys918Glu) rs757244993 0.00001
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys) rs184770388 0.00001
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu) rs776256629 0.00001
NM_020937.4(FANCM):c.275G>A (p.Arg92Gln) rs1885496616 0.00001
NM_020937.4(FANCM):c.2774C>T (p.Thr925Ile) rs1227468338 0.00001
NM_020937.4(FANCM):c.2791A>G (p.Asn931Asp) rs142798313 0.00001
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu) rs1594798166 0.00001
NM_020937.4(FANCM):c.281A>G (p.Tyr94Cys) rs1352722928 0.00001
NM_020937.4(FANCM):c.2834G>A (p.Gly945Asp) rs1193165722 0.00001
NM_020937.4(FANCM):c.2843G>A (p.Ser948Asn) rs1040437114 0.00001
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser) rs775175323 0.00001
NM_020937.4(FANCM):c.2852A>G (p.Asp951Gly) rs760309916 0.00001
NM_020937.4(FANCM):c.2871_2876del (p.Asn958_Leu959del) rs1888628927 0.00001
NM_020937.4(FANCM):c.2881C>T (p.Leu961Phe) rs1319257761 0.00001
NM_020937.4(FANCM):c.2922C>G (p.Asp974Glu) rs1888633712 0.00001
NM_020937.4(FANCM):c.2962G>A (p.Ala988Thr) rs1454000944 0.00001
NM_020937.4(FANCM):c.298C>G (p.Arg100Gly) rs1438436722 0.00001
NM_020937.4(FANCM):c.298C>T (p.Arg100Trp) rs1438436722 0.00001
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg) rs751314954 0.00001
NM_020937.4(FANCM):c.3023A>C (p.Glu1008Ala) rs1420000591 0.00001
NM_020937.4(FANCM):c.3074G>A (p.Cys1025Tyr) rs908243528 0.00001
NM_020937.4(FANCM):c.314G>T (p.Cys105Phe) rs955997534 0.00001
NM_020937.4(FANCM):c.3175T>C (p.Tyr1059His) rs755723099 0.00001
NM_020937.4(FANCM):c.3176A>T (p.Tyr1059Phe) rs1888656410 0.00001
NM_020937.4(FANCM):c.3193T>G (p.Cys1065Gly) rs201836469 0.00001
NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser) rs1297760447 0.00001
NM_020937.4(FANCM):c.3293A>G (p.Asn1098Ser) rs372995836 0.00001
NM_020937.4(FANCM):c.3295C>T (p.Arg1099Cys) rs767815301 0.00001
NM_020937.4(FANCM):c.3308A>C (p.His1103Pro) rs191339110 0.00001
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala) rs376798467 0.00001
NM_020937.4(FANCM):c.3363T>G (p.Ser1121Arg) rs746805378 0.00001
NM_020937.4(FANCM):c.3468C>G (p.Ser1156Arg) rs756947100 0.00001
NM_020937.4(FANCM):c.3476T>C (p.Leu1159Ser) rs1045206208 0.00001
NM_020937.4(FANCM):c.3550T>G (p.Leu1184Val) rs1331676656 0.00001
NM_020937.4(FANCM):c.3573A>G (p.Gln1191=) rs1307778741 0.00001
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) rs751441742 0.00001
NM_020937.4(FANCM):c.3593C>G (p.Ala1198Gly) rs754961557 0.00001
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His) rs867324948 0.00001
NM_020937.4(FANCM):c.364G>T (p.Ala122Ser) rs1885507119 0.00001
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe) rs201839320 0.00001
NM_020937.4(FANCM):c.3667T>G (p.Cys1223Gly) rs1888703962 0.00001
NM_020937.4(FANCM):c.3704G>T (p.Gly1235Val) rs146490925 0.00001
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr) rs770651053 0.00001
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg) rs749696321 0.00001
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr) rs760563906 0.00001
NM_020937.4(FANCM):c.3889C>T (p.Pro1297Ser) rs753821216 0.00001
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys) rs751795256 0.00001
NM_020937.4(FANCM):c.3971G>A (p.Gly1324Asp) rs1888731038 0.00001
NM_020937.4(FANCM):c.4057A>G (p.Ile1353Val) rs759767076 0.00001
NM_020937.4(FANCM):c.4076A>G (p.Lys1359Arg) rs758862288 0.00001
NM_020937.4(FANCM):c.4098A>T (p.Glu1366Asp) rs550675560 0.00001
NM_020937.4(FANCM):c.4105A>G (p.Asn1369Asp) rs1248092760 0.00001
NM_020937.4(FANCM):c.4107C>A (p.Asn1369Lys) rs113664919 0.00001
NM_020937.4(FANCM):c.410T>C (p.Val137Ala) rs748823532 0.00001
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr) rs373590893 0.00001
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val) rs376581960 0.00001
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys) rs534229547 0.00001
NM_020937.4(FANCM):c.4213T>G (p.Ser1405Ala) rs1412826290 0.00001
NM_020937.4(FANCM):c.422C>T (p.Ala141Val) rs774380823 0.00001
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) rs771875070 0.00001
NM_020937.4(FANCM):c.4322A>C (p.Gln1441Pro) rs768911217 0.00001
NM_020937.4(FANCM):c.4343C>T (p.Ser1448Phe) rs774526380 0.00001
NM_020937.4(FANCM):c.4375C>G (p.Pro1459Ala) rs1429932349 0.00001
NM_020937.4(FANCM):c.4429C>A (p.Pro1477Thr) rs1373913163 0.00001
NM_020937.4(FANCM):c.4439A>G (p.Gln1480Arg) rs772095334 0.00001
NM_020937.4(FANCM):c.4452C>G (p.Phe1484Leu) rs143239291 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_020937.4(FANCM):c.4504A>G (p.Ser1502Gly) rs779176062 0.00001
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile) rs945620719 0.00001
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly) rs199514189 0.00001
NM_020937.4(FANCM):c.4574A>G (p.Tyr1525Cys) rs748721088 0.00001
NM_020937.4(FANCM):c.4574A>T (p.Tyr1525Phe) rs748721088 0.00001
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His) rs1251556461 0.00001
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro) rs377410891 0.00001
NM_020937.4(FANCM):c.4690A>G (p.Ile1564Val) rs540558068 0.00001
NM_020937.4(FANCM):c.470T>A (p.Val157Glu) rs1165497144 0.00001
NM_020937.4(FANCM):c.4717A>G (p.Met1573Val) rs780976564 0.00001
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser) rs748182153 0.00001
NM_020937.4(FANCM):c.4762A>G (p.Ile1588Val) rs910499638 0.00001
NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly) rs1405769485 0.00001
NM_020937.4(FANCM):c.4798A>G (p.Thr1600Ala) rs779658679 0.00001
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn) rs781618421 0.00001
NM_020937.4(FANCM):c.4820G>T (p.Cys1607Phe) rs769869730 0.00001
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp) rs1232508556 0.00001
NM_020937.4(FANCM):c.4871G>T (p.Cys1624Phe) rs1457271846 0.00001
NM_020937.4(FANCM):c.4913G>A (p.Ser1638Asn) rs776797107 0.00001
NM_020937.4(FANCM):c.4928C>T (p.Thr1643Ile) rs762187580 0.00001
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg) rs1472981713 0.00001
NM_020937.4(FANCM):c.4951G>A (p.Glu1651Lys) rs752279370 0.00001
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg) rs763454366 0.00001
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met) rs371629950 0.00001
NM_020937.4(FANCM):c.5155C>T (p.Arg1719Cys) rs1444402627 0.00001
NM_020937.4(FANCM):c.5156G>A (p.Arg1719His) rs760421586 0.00001
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu) rs112745068 0.00001
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr) rs768392812 0.00001
NM_020937.4(FANCM):c.5230G>A (p.Glu1744Lys) rs776474104 0.00001
NM_020937.4(FANCM):c.5240A>G (p.Asp1747Gly) rs764718852 0.00001
NM_020937.4(FANCM):c.5258A>G (p.His1753Arg) rs371891604 0.00001
NM_020937.4(FANCM):c.5317A>G (p.Arg1773Gly) rs1356723831 0.00001
NM_020937.4(FANCM):c.5337G>T (p.Gln1779His) rs374822670 0.00001
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly) rs752053357 0.00001
NM_020937.4(FANCM):c.5359G>T (p.Asp1787Tyr) rs1465506378 0.00001
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser) rs759165724 0.00001
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala) rs1195945183 0.00001
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu) rs200095329 0.00001
NM_020937.4(FANCM):c.5474A>G (p.His1825Arg) rs751719012 0.00001
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp) rs374303319 0.00001
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile) rs775021812 0.00001
NM_020937.4(FANCM):c.5578C>T (p.Arg1860Cys) rs139996409 0.00001
NM_020937.4(FANCM):c.5618A>G (p.Asn1873Ser) rs1890063869 0.00001
NM_020937.4(FANCM):c.565C>G (p.Leu189Val) rs149010517 0.00001
NM_020937.4(FANCM):c.5681T>C (p.Ile1894Thr) rs1308170151 0.00001
NM_020937.4(FANCM):c.5702A>G (p.Asp1901Gly) rs1164461453 0.00001
NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu) rs755903696 0.00001
NM_020937.4(FANCM):c.575A>T (p.Gln192Leu) rs768031730 0.00001
NM_020937.4(FANCM):c.5782G>A (p.Ala1928Thr) rs1890206013 0.00001
NM_020937.4(FANCM):c.5792G>A (p.Arg1931Gln) rs773595869 0.00001
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr) rs759078220 0.00001
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn) rs1060501893 0.00001
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly) rs1594486115 0.00001
NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe) rs1890214915 0.00001
NM_020937.4(FANCM):c.6020A>G (p.Glu2007Gly) rs1350057442 0.00001
NM_020937.4(FANCM):c.6129A>T (p.Arg2043Ser) rs772632630 0.00001
NM_020937.4(FANCM):c.635T>A (p.Val212Asp) rs1277508701 0.00001
NM_020937.4(FANCM):c.650A>G (p.His217Arg) rs532404406 0.00001
NM_020937.4(FANCM):c.673T>C (p.Tyr225His) rs771120876 0.00001
NM_020937.4(FANCM):c.809G>A (p.Arg270His) rs759079934 0.00001
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) rs767396394 0.00001
NM_020937.4(FANCM):c.824C>T (p.Pro275Leu) rs1436183493 0.00001
NM_020937.4(FANCM):c.868A>G (p.Ile290Val) rs780426259 0.00001
NM_020937.4(FANCM):c.898A>G (p.Ile300Val) rs749659002 0.00001
NM_020937.4(FANCM):c.925G>A (p.Glu309Lys) rs778377621 0.00001
NM_020937.4(FANCM):c.938G>A (p.Arg313His) rs767487612 0.00001
NM_020937.4(FANCM):c.946A>G (p.Ile316Val) rs1401549421 0.00001
NM_020937.4(FANCM):c.963G>C (p.Leu321Phe) rs761891998 0.00001
NM_020937.4(FANCM):c.980C>T (p.Pro327Leu) rs879849364 0.00001
NM_020937.4(FANCM):c.985C>G (p.Leu329Val) rs750311376 0.00001
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg) rs759911498 0.00001
NM_021625.5(TRPV4):c.*212G>A rs886048938 0.00001
NM_021625.5(TRPV4):c.*51G>A rs886048939 0.00001
NM_021625.5(TRPV4):c.-59C>T rs1299040866 0.00001
NM_021625.5(TRPV4):c.-74G>A rs886048942 0.00001
NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr) rs775011025 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633 0.00001
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu) rs764622721 0.00001
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) rs756559560 0.00001
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn) rs769445973 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_021922.3(FANCE):c.*401G>C rs886061333 0.00001
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr) rs1007410805 0.00001
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) rs570498238 0.00001
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln) rs1351881430 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe) rs1236565765 0.00001
NM_021922.3(FANCE):c.1142G>A (p.Arg381His) rs374232967 0.00001
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp) rs1767154137 0.00001
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp) rs886061331 0.00001
NM_021922.3(FANCE):c.1309A>G (p.Met437Val) rs746770705 0.00001
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro) rs745685973 0.00001
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe) rs1488514330 0.00001
NM_021922.3(FANCE):c.136G>T (p.Val46Leu) rs1366722396 0.00001
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu) rs746321808 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly) rs766291860 0.00001
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile) rs1413425638 0.00001
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu) rs1256798501 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser) rs890865684 0.00001
NM_021922.3(FANCE):c.216G>T (p.Pro72=) rs886061328 0.00001
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln) rs369035099 0.00001
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser) rs763968547 0.00001
NM_021922.3(FANCE):c.330G>A (p.Pro110=) rs757051494 0.00001
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala) rs780304950 0.00001
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu) rs1554121253 0.00001
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys) rs866005940 0.00001
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys) rs181761362 0.00001
NM_021922.3(FANCE):c.401G>A (p.Arg134His) rs774939689 0.00001
NM_021922.3(FANCE):c.436G>T (p.Val146Leu) rs755204532 0.00001
NM_021922.3(FANCE):c.449T>C (p.Met150Thr) rs752797466 0.00001
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg) rs370057221 0.00001
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp) rs748817910 0.00001
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp) rs764017469 0.00001
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln) rs751676807 0.00001
NM_021922.3(FANCE):c.599G>A (p.Arg200His) rs150278839 0.00001
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu) rs370659315 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_021922.3(FANCE):c.685C>T (p.His229Tyr) rs142737128 0.00001
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr) rs766901564 0.00001
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro) rs376591931 0.00001
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe) rs886061329 0.00001
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro) rs1767415225 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro) rs770592868 0.00001
NM_021926.4(ALX4):c.1192A>G (p.Met398Val) rs1399189995 0.00001
NM_021939.3(FKBP10):c.-89G>A rs1325703846 0.00001
NM_021939.4(FKBP10):c.*760G>A rs910186954 0.00001
NM_021939.4(FKBP10):c.100G>A (p.Ala34Thr) rs1367029793 0.00001
NM_021939.4(FKBP10):c.1098C>T (p.Phe366=) rs886052923 0.00001
NM_021939.4(FKBP10):c.1286C>T (p.Thr429Ile) rs782547176 0.00001
NM_021939.4(FKBP10):c.1308C>T (p.Ile436=) rs782781776 0.00001
NM_021939.4(FKBP10):c.1613T>C (p.Met538Thr) rs144237565 0.00001
NM_021939.4(FKBP10):c.1723G>A (p.Glu575Lys) rs782264908 0.00001
NM_021939.4(FKBP10):c.393G>A (p.Ala131=) rs573350587 0.00001
NM_021939.4(FKBP10):c.522C>T (p.Gly174=) rs782350228 0.00001
NM_021939.4(FKBP10):c.573C>T (p.Phe191=) rs577264401 0.00001
NM_021939.4(FKBP10):c.591G>A (p.Lys197=) rs782308119 0.00001
NM_021939.4(FKBP10):c.915C>T (p.Ser305=) rs781996509 0.00001
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg) rs151048089 0.00001
NM_022039.4(FBXW4):c.374T>C (p.Val125Ala) rs886046646 0.00001
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln) rs886046642 0.00001
NM_022166.4(XYLT1):c.1006G>A (p.Gly336Ser) rs748903122 0.00001
NM_022166.4(XYLT1):c.1086+4A>G rs368086323 0.00001
NM_022166.4(XYLT1):c.1088G>A (p.Arg363His) rs750025305 0.00001
NM_022166.4(XYLT1):c.1129C>G (p.Gln377Glu) rs530487081 0.00001
NM_022166.4(XYLT1):c.1229A>T (p.Glu410Val) rs759418934 0.00001
NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn) rs1193112792 0.00001
NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val) rs192917273 0.00001
NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser) rs1395692976 0.00001
NM_022166.4(XYLT1):c.1547A>G (p.Lys516Arg) rs200026293 0.00001
NM_022166.4(XYLT1):c.1638G>A (p.Val546=) rs2030849015 0.00001
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn) rs770094750 0.00001
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367 0.00001
NM_022166.4(XYLT1):c.182C>G (p.Pro61Arg) rs953238937 0.00001
NM_022166.4(XYLT1):c.18C>G (p.Cys6Trp) rs1028730751 0.00001
NM_022166.4(XYLT1):c.1939G>A (p.Val647Met) rs756272760 0.00001
NM_022166.4(XYLT1):c.1970G>A (p.Arg657His) rs748655641 0.00001
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) rs1275156523 0.00001
NM_022166.4(XYLT1):c.2088G>T (p.Gln696His) rs1459705274 0.00001
NM_022166.4(XYLT1):c.2129G>A (p.Ser710Asn) rs1174079303 0.00001
NM_022166.4(XYLT1):c.2223+6A>C rs757535848 0.00001
NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys) rs374020411 0.00001
NM_022166.4(XYLT1):c.2465C>G (p.Thr822Arg) rs781285104 0.00001
NM_022166.4(XYLT1):c.2467G>A (p.Val823Met) rs767395762 0.00001
NM_022166.4(XYLT1):c.2619G>C (p.Gln873His) rs1378456649 0.00001
NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln) rs752844900 0.00001
NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser) rs1348422483 0.00001
NM_022166.4(XYLT1):c.353C>T (p.Ala118Val) rs1229787594 0.00001
NM_022166.4(XYLT1):c.359C>T (p.Ala120Val) rs1187139126 0.00001
NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe) rs1251084213 0.00001
NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu) rs1052524950 0.00001
NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser) rs1284737489 0.00001
NM_022166.4(XYLT1):c.617A>G (p.His206Arg) rs1422772803 0.00001
NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu) rs746038429 0.00001
NM_022166.4(XYLT1):c.746C>A (p.Thr249Asn) rs761858019 0.00001
NM_022166.4(XYLT1):c.793A>G (p.Ile265Val) rs770182325 0.00001
NM_022166.4(XYLT1):c.848C>G (p.Thr283Ser) rs763286849 0.00001
NM_022166.4(XYLT1):c.88C>G (p.Leu30Val) rs948173236 0.00001
NM_022166.4(XYLT1):c.94G>A (p.Val32Met) rs1301420949 0.00001
NM_022167.4(XYLT2):c.1328A>G (p.Glu443Gly) rs150726624 0.00001
NM_022167.4(XYLT2):c.2583_2584insTCA (p.Asp861_Gly862insSer) rs1160371350 0.00001
NM_022167.4(XYLT2):c.38G>T (p.Arg13Leu) rs1192218990 0.00001
NM_022167.4(XYLT2):c.749G>A (p.Arg250His) rs1454779962 0.00001
NM_022168.4(IFIH1):c.1031A>G (p.Lys344Arg) rs1682930814 0.00001
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter) rs768448518 0.00001
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 0.00001
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser) rs764148204 0.00001
NM_022168.4(IFIH1):c.1195T>C (p.Ser399Pro) rs1408936117 0.00001
NM_022168.4(IFIH1):c.1219T>C (p.Cys407Arg) rs769101700 0.00001
NM_022168.4(IFIH1):c.121G>C (p.Glu41Gln) rs762115082 0.00001
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe) rs754807936 0.00001
NM_022168.4(IFIH1):c.1294G>T (p.Val432Phe) rs1353805115 0.00001
NM_022168.4(IFIH1):c.1363A>G (p.Asn455Asp) rs772981550 0.00001
NM_022168.4(IFIH1):c.1376G>A (p.Arg459Lys) rs1031540879 0.00001
NM_022168.4(IFIH1):c.1429C>T (p.Pro477Ser) rs1416059394 0.00001
NM_022168.4(IFIH1):c.1525-1G>A rs774035953 0.00001
NM_022168.4(IFIH1):c.1552A>G (p.Ile518Val) rs747683934 0.00001
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn) rs1683546966 0.00001
NM_022168.4(IFIH1):c.1574T>C (p.Leu525Pro) rs1390303966 0.00001
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala) rs1683546841 0.00001
NM_022168.4(IFIH1):c.1625C>A (p.Ala542Glu) rs1490646945 0.00001
NM_022168.4(IFIH1):c.1633A>G (p.Thr545Ala) rs762899578 0.00001
NM_022168.4(IFIH1):c.1641+2T>C rs747781178 0.00001
NM_022168.4(IFIH1):c.1672A>G (p.Met558Val) rs756286361 0.00001
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile) rs776280813 0.00001
NM_022168.4(IFIH1):c.1765+1G>A rs1292220162 0.00001
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp) rs763549486 0.00001
NM_022168.4(IFIH1):c.180A>C (p.Glu60Asp) rs777639035 0.00001
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys) rs775623826 0.00001
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr) rs376940981 0.00001
NM_022168.4(IFIH1):c.1958A>G (p.Tyr653Cys) rs1213233883 0.00001
NM_022168.4(IFIH1):c.2015C>T (p.Thr672Ile) rs527242746 0.00001
NM_022168.4(IFIH1):c.2017G>A (p.Asp673Asn) rs746781048 0.00001
NM_022168.4(IFIH1):c.2090A>G (p.Glu697Gly) rs775545790 0.00001
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923 0.00001
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe) rs1307616619 0.00001
NM_022168.4(IFIH1):c.2192C>T (p.Ala731Val) rs766238091 0.00001
NM_022168.4(IFIH1):c.2242G>A (p.Gly748Arg) rs764553894 0.00001
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn) rs1649189149 0.00001
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp) rs1246892209 0.00001
NM_022168.4(IFIH1):c.2330A>G (p.Lys777Arg) rs1286741340 0.00001
NM_022168.4(IFIH1):c.2356C>T (p.Leu786Phe) rs759911216 0.00001
NM_022168.4(IFIH1):c.2368A>G (p.Thr790Ala) rs770138422 0.00001
NM_022168.4(IFIH1):c.2398G>T (p.Glu800Ter) rs1444920926 0.00001
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile) rs763479773 0.00001
NM_022168.4(IFIH1):c.2448G>A (p.Met816Ile) rs569872801 0.00001
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg) rs138373022 0.00001
NM_022168.4(IFIH1):c.2570C>G (p.Ala857Gly) rs746638759 0.00001
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys) rs375179358 0.00001
NM_022168.4(IFIH1):c.2604G>T (p.Glu868Asp) rs760907862 0.00001
NM_022168.4(IFIH1):c.2606A>G (p.Tyr869Cys) rs752986445 0.00001
NM_022168.4(IFIH1):c.2684A>T (p.His895Leu) rs948646167 0.00001
NM_022168.4(IFIH1):c.2690A>G (p.Lys897Arg) rs772381153 0.00001
NM_022168.4(IFIH1):c.2714T>C (p.Phe905Ser) rs371419955 0.00001
NM_022168.4(IFIH1):c.2724A>T (p.Lys908Asn) rs750467622 0.00001
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_022168.4(IFIH1):c.2750G>A (p.Gly917Glu) rs1690961624 0.00001
NM_022168.4(IFIH1):c.2759T>A (p.Ile920Asn) rs748895438 0.00001
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr) rs1291159972 0.00001
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg) rs747311719 0.00001
NM_022168.4(IFIH1):c.2808-3T>C rs1690950904 0.00001
NM_022168.4(IFIH1):c.281A>G (p.Tyr94Cys) rs1325840950 0.00001
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile) rs1322389017 0.00001
NM_022168.4(IFIH1):c.2862T>G (p.Tyr954Ter) rs750063177 0.00001
NM_022168.4(IFIH1):c.2898+5G>C rs958493507 0.00001
NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser) rs931567064 0.00001
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu) rs764380346 0.00001
NM_022168.4(IFIH1):c.328G>C (p.Ala110Pro) rs1475589306 0.00001
NM_022168.4(IFIH1):c.331C>A (p.His111Asn) rs760903088 0.00001
NM_022168.4(IFIH1):c.370dup (p.Thr124fs) rs1414913745 0.00001
NM_022168.4(IFIH1):c.376G>A (p.Val126Met) rs143910264 0.00001
NM_022168.4(IFIH1):c.37T>A (p.Tyr13Asn) rs763796280 0.00001
NM_022168.4(IFIH1):c.411G>C (p.Lys137Asn) rs1257535402 0.00001
NM_022168.4(IFIH1):c.453+1G>A rs967571395 0.00001
NM_022168.4(IFIH1):c.481G>A (p.Glu161Lys) rs1018886793 0.00001
NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter) rs1455983191 0.00001
NM_022168.4(IFIH1):c.524A>T (p.Glu175Val) rs759418219 0.00001
NM_022168.4(IFIH1):c.566G>C (p.Gly189Ala) rs898426581 0.00001
NM_022168.4(IFIH1):c.572A>G (p.Asn191Ser) rs1255420302 0.00001
NM_022168.4(IFIH1):c.58G>A (p.Ala20Thr) rs1160285695 0.00001
NM_022168.4(IFIH1):c.605G>A (p.Cys202Tyr) rs1332221584 0.00001
NM_022168.4(IFIH1):c.613A>G (p.Ser205Gly) rs1029888708 0.00001
NM_022168.4(IFIH1):c.62G>T (p.Arg21Met) rs370024615 0.00001
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile) rs930052265 0.00001
NM_022168.4(IFIH1):c.644T>C (p.Val215Ala) rs546097679 0.00001
NM_022168.4(IFIH1):c.683C>T (p.Thr228Ile) rs746288754 0.00001
NM_022168.4(IFIH1):c.755C>A (p.Ser252Tyr) rs370138586 0.00001
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895 0.00001
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn) rs1442046271 0.00001
NM_022168.4(IFIH1):c.802A>G (p.Ser268Gly) rs1266267435 0.00001
NM_022168.4(IFIH1):c.818G>A (p.Ser273Asn) rs1683037048 0.00001
NM_022168.4(IFIH1):c.866G>T (p.Ser289Ile) rs1683036042 0.00001
NM_022356.4(P3H1):c.1069G>A (p.Gly357Ser) rs1181269848 0.00001
NM_022356.4(P3H1):c.1075C>T (p.Arg359Cys) rs548639069 0.00001
NM_022356.4(P3H1):c.1097G>A (p.Arg366Gln) rs781162194 0.00001
NM_022356.4(P3H1):c.1103G>A (p.Arg368Gln) rs751395741 0.00001
NM_022356.4(P3H1):c.1141G>C (p.Asp381His) rs769330518 0.00001
NM_022356.4(P3H1):c.1246C>T (p.Arg416Cys) rs199597388 0.00001
NM_022356.4(P3H1):c.1247G>A (p.Arg416His) rs763373396 0.00001
NM_022356.4(P3H1):c.1249A>G (p.Ile417Val) rs1389727493 0.00001
NM_022356.4(P3H1):c.1367G>A (p.Gly456Asp) rs781335485 0.00001
NM_022356.4(P3H1):c.146G>A (p.Gly49Glu) rs1035425402 0.00001
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn) rs375176399 0.00001
NM_022356.4(P3H1):c.1502G>A (p.Arg501Gln) rs557547513 0.00001
NM_022356.4(P3H1):c.1523C>A (p.Thr508Asn) rs759787229 0.00001
NM_022356.4(P3H1):c.1600A>G (p.Ser534Gly) rs764540430 0.00001
NM_022356.4(P3H1):c.1613A>G (p.Tyr538Cys) rs748917248 0.00001
NM_022356.4(P3H1):c.1636C>T (p.Arg546Trp) rs779744195 0.00001
NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys) rs1440258565 0.00001
NM_022356.4(P3H1):c.1645A>G (p.Met549Val) rs201036797 0.00001
NM_022356.4(P3H1):c.1661G>A (p.Arg554His) rs376337637 0.00001
NM_022356.4(P3H1):c.1670C>T (p.Thr557Met) rs762603538 0.00001
NM_022356.4(P3H1):c.1706G>A (p.Arg569His) rs758131023 0.00001
NM_022356.4(P3H1):c.1762G>A (p.Val588Met) rs763655582 0.00001
NM_022356.4(P3H1):c.1786G>A (p.Glu596Lys) rs771866490 0.00001
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe) rs1344810292 0.00001
NM_022356.4(P3H1):c.1829G>A (p.Arg610His) rs538936362 0.00001
NM_022356.4(P3H1):c.1889C>T (p.Thr630Ile) rs751516211 0.00001
NM_022356.4(P3H1):c.1909G>A (p.Val637Met) rs983158177 0.00001
NM_022356.4(P3H1):c.1919A>G (p.Glu640Gly) rs764935317 0.00001
NM_022356.4(P3H1):c.193C>T (p.Arg65Trp) rs1478435101 0.00001
NM_022356.4(P3H1):c.2005C>T (p.Arg669Cys) rs1482209044 0.00001
NM_022356.4(P3H1):c.2050G>A (p.Glu684Lys) rs759714439 0.00001
NM_022356.4(P3H1):c.2110G>C (p.Asp704His) rs775358603 0.00001
NM_022356.4(P3H1):c.284C>A (p.Pro95Gln) rs765045278 0.00001
NM_022356.4(P3H1):c.368G>C (p.Cys123Ser) rs1310667421 0.00001
NM_022356.4(P3H1):c.388C>G (p.His130Asp) rs1348446019 0.00001
NM_022356.4(P3H1):c.440A>G (p.Asn147Ser) rs1653008220 0.00001
NM_022356.4(P3H1):c.462C>G (p.Phe154Leu) rs1404923329 0.00001
NM_022356.4(P3H1):c.582G>C (p.Glu194Asp) rs1235483593 0.00001
NM_022356.4(P3H1):c.599T>G (p.Leu200Arg) rs747865105 0.00001
NM_022356.4(P3H1):c.618+4A>G rs191121940 0.00001
NM_022356.4(P3H1):c.646T>G (p.Tyr216Asp) rs1378406205 0.00001
NM_022356.4(P3H1):c.653A>C (p.Glu218Ala) rs753716259 0.00001
NM_022356.4(P3H1):c.698A>C (p.Gln233Pro) rs903215732 0.00001
NM_022356.4(P3H1):c.716A>G (p.Tyr239Cys) rs201104050 0.00001
NM_022356.4(P3H1):c.737G>A (p.Cys246Tyr) rs1199863657 0.00001
NM_022356.4(P3H1):c.749A>G (p.Tyr250Cys) rs1250740001 0.00001
NM_022356.4(P3H1):c.760G>A (p.Gly254Ser) rs914752084 0.00001
NM_022356.4(P3H1):c.79G>A (p.Glu27Lys) rs746863189 0.00001
NM_022356.4(P3H1):c.826C>G (p.Leu276Val) rs757498418 0.00001
NM_022356.4(P3H1):c.874C>G (p.Arg292Gly) rs773269078 0.00001
NM_022356.4(P3H1):c.88T>C (p.Trp30Arg) rs1172430769 0.00001
NM_022356.4(P3H1):c.908A>T (p.His303Leu) rs1191275386 0.00001
NM_022356.4(P3H1):c.934T>C (p.Tyr312His) rs1180298586 0.00001
NM_022356.4(P3H1):c.939C>G (p.Asn313Lys) rs1373305113 0.00001
NM_022356.4(P3H1):c.980A>G (p.Tyr327Cys) rs1454717997 0.00001
NM_022458.4(LMBR1):c.*1363G>T rs1032886313 0.00001
NM_022458.4(LMBR1):c.*1560T>A rs1307260930 0.00001
NM_022458.4(LMBR1):c.*245C>T rs1036026971 0.00001
NM_022458.4(LMBR1):c.*2658T>C rs1205792107 0.00001
NM_022458.4(LMBR1):c.*457C>G rs886062118 0.00001
NM_022458.4(LMBR1):c.-154G>A rs886062122 0.00001
NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) rs148974610 0.00001
NM_022458.4(LMBR1):c.627A>G (p.Thr209=) rs1227969762 0.00001
NM_022725.4(FANCF):c.*1190C>A rs750376328 0.00001
NM_022725.4(FANCF):c.*1632G>C rs886048150 0.00001
NM_022725.4(FANCF):c.*328C>T rs964106425 0.00001
NM_022725.4(FANCF):c.*565A>G rs886048155 0.00001
NM_022725.4(FANCF):c.*782A>G rs949488113 0.00001
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe) rs754545069 0.00001
NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe) rs1858614394 0.00001
NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly) rs1357749824 0.00001
NM_022725.4(FANCF):c.1114A>G (p.Ser372Gly) rs760590516 0.00001
NM_022725.4(FANCF):c.116G>A (p.Arg39His) rs778953394 0.00001
NM_022725.4(FANCF):c.128A>C (p.His43Pro) rs761221734 0.00001
NM_022725.4(FANCF):c.133C>T (p.His45Tyr) rs753116878 0.00001
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro) rs1159900858 0.00001
NM_022725.4(FANCF):c.166A>G (p.Thr56Ala) rs772736775 0.00001
NM_022725.4(FANCF):c.182G>T (p.Arg61Leu) rs779046357 0.00001
NM_022725.4(FANCF):c.189C>G (p.His63Gln) rs1014150752 0.00001
NM_022725.4(FANCF):c.19C>G (p.His7Asp) rs749273752 0.00001
NM_022725.4(FANCF):c.210C>T (p.Gly70=) rs769740744 0.00001
NM_022725.4(FANCF):c.232C>A (p.Pro78Thr) rs554712164 0.00001
NM_022725.4(FANCF):c.233C>T (p.Pro78Leu) rs928361745 0.00001
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg) rs756488831 0.00001
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro) rs373385251 0.00001
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg) rs757993614 0.00001
NM_022725.4(FANCF):c.356C>T (p.Pro119Leu) rs760472320 0.00001
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly) rs1216924776 0.00001
NM_022725.4(FANCF):c.436C>G (p.Leu146Val) rs779428484 0.00001
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp) rs370979205 0.00001
NM_022725.4(FANCF):c.469C>T (p.Leu157Phe) rs1060501870 0.00001
NM_022725.4(FANCF):c.580G>A (p.Glu194Lys) rs893075597 0.00001
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser) rs1231820160 0.00001
NM_022725.4(FANCF):c.680A>G (p.His227Arg) rs1248152779 0.00001
NM_022725.4(FANCF):c.705A>C (p.Gln235His) rs768107677 0.00001
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe) rs1417824608 0.00001
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg) rs374063561 0.00001
NM_022725.4(FANCF):c.849A>C (p.Gln283His) rs146848948 0.00001
NM_022725.4(FANCF):c.877A>G (p.Ile293Val) rs780747014 0.00001
NM_022725.4(FANCF):c.907C>T (p.Pro303Ser) rs199717587 0.00001
NM_022725.4(FANCF):c.936A>T (p.Gln312His) rs371631248 0.00001
NM_023110.2(FGFR1):c.-755C>G rs1225240095 0.00001
NM_023110.2(FGFR1):c.-849C>A rs1050158070 0.00001
NM_023110.3(FGFR1):c.*1086A>T rs1287148499 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.*1149G>A rs923197183 0.00001
NM_023110.3(FGFR1):c.*2445A>G rs1261528641 0.00001
NM_023110.3(FGFR1):c.*928G>A rs1814772534 0.00001
NM_023110.3(FGFR1):c.-444C>T rs1835972353 0.00001
NM_023110.3(FGFR1):c.1006G>A (p.Ala336Thr) rs981703846 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys) rs982371464 0.00001
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val) rs1324436328 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val) rs767419329 0.00001
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=) rs199499923 0.00001
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr) rs749758370 0.00001
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys) rs778531708 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg) rs903239767 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2187-14C>T rs1390439587 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2292+6G>T rs905873179 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser) rs1815142188 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg) rs17182456 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu) rs121913473 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro) rs764533580 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser) rs746094709 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.621+4C>T rs750639887 0.00001
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val) rs763771933 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe) rs1230569367 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NM_024675.4(PALB2):c.-149G>A rs886051832 0.00001
NM_024675.4(PALB2):c.-37C>T rs1403573232 0.00001
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) rs876659751 0.00001
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys) rs1348407391 0.00001
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro) rs1358484245 0.00001
NM_024675.4(PALB2):c.113C>T (p.Ala38Val) rs371875379 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala) rs148102335 0.00001
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg) rs765898856 0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) rs765125459 0.00001
NM_024675.4(PALB2):c.1348A>C (p.Asn450His) rs62625274 0.00001
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) rs587781824 0.00001
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg) rs768482110 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.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874 0.00001
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr) rs370468259 0.00001
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys) rs746582620 0.00001
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile) rs587780207 0.00001
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr) rs1060502733 0.00001
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn) rs730881885 0.00001
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) rs761478794 0.00001
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys) rs780397699 0.00001
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met) rs759024828 0.00001
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro) rs765942523 0.00001
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala) rs879254051 0.00001
NM_024675.4(PALB2):c.2277A>G (p.Gln759=) rs786202524 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.2411C>T (p.Ser804Phe) rs149836639 0.00001
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu) rs774502617 0.00001
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu) rs750650768 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) rs533814557 0.00001
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val) rs778602038 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) rs786204248 0.00001
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu) rs1418709183 0.00001
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser) rs764669864 0.00001
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu) rs1417779335 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.3128G>C (p.Gly1043Ala) rs377713277 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg) rs202222149 0.00001
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) rs864622193 0.00001
NM_024675.4(PALB2):c.3350+11A>G rs515726114 0.00001
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=) rs1282821765 0.00001
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe) rs786203462 0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275 0.00001
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val) rs863224788 0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) rs373287455 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln) rs864622280 0.00001
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr) rs757567654 0.00001
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala) rs786203040 0.00001
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys) rs515726127 0.00001
NM_024675.4(PALB2):c.828C>T (p.His276=) rs911713488 0.00001
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln) rs200843485 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) rs886059398 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr) rs1024499799 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.291-12_291-11del rs1324399102 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) rs886059396 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_031296.3(RAB33B):c.*146T>A rs1006747025 0.00001
NM_031296.3(RAB33B):c.*161C>T rs760410514 0.00001
NM_031296.3(RAB33B):c.*1819A>G rs557693738 0.00001
NM_031296.3(RAB33B):c.*2132T>G rs575262316 0.00001
NM_031296.3(RAB33B):c.*219A>G rs886059078 0.00001
NM_031296.3(RAB33B):c.*2754C>G rs1056464543 0.00001
NM_031296.3(RAB33B):c.*632A>G rs886059080 0.00001
NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) rs747031994 0.00001
NM_031296.3(RAB33B):c.613T>C (p.Leu205=) rs1410035502 0.00001
NM_031296.3(RAB33B):c.678G>A (p.Thr226=) rs758182997 0.00001
NM_032043.3(BRIP1):c.*1239C>A rs1042958451 0.00001
NM_032043.3(BRIP1):c.*1908T>C rs1264916802 0.00001
NM_032043.3(BRIP1):c.*2522A>G rs886053207 0.00001
NM_032043.3(BRIP1):c.*339G>C rs886053212 0.00001
NM_032043.3(BRIP1):c.*3580T>A rs372023591 0.00001
NM_032043.3(BRIP1):c.*3617T>C rs886053198 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.1055A>G (p.Tyr352Cys) rs762417690 0.00001
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His) rs1567831780 0.00001
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile) rs776939714 0.00001
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met) rs730881634 0.00001
NM_032043.3(BRIP1):c.10A>G (p.Met4Val) rs45512093 0.00001
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His) rs587781325 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.1184C>A (p.Ala395Asp) rs778992385 0.00001
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg) rs996493095 0.00001
NM_032043.3(BRIP1):c.1192A>G (p.Ile398Val) rs786203967 0.00001
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816 0.00001
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr) rs764711572 0.00001
NM_032043.3(BRIP1):c.1202G>A (p.Cys401Tyr) rs1340018456 0.00001
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln) rs786202780 0.00001
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser) rs1060501747 0.00001
NM_032043.3(BRIP1):c.1217C>T (p.Ala406Val) rs767872861 0.00001
NM_032043.3(BRIP1):c.1247G>A (p.Arg416Gln) rs772570870 0.00001
NM_032043.3(BRIP1):c.1256G>A (p.Arg419Gln) rs748105919 0.00001
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly) rs746778889 0.00001
NM_032043.3(BRIP1):c.1283A>G (p.Asn428Ser) rs779237423 0.00001
NM_032043.3(BRIP1):c.1286A>C (p.Asn429Thr) rs587781463 0.00001
NM_032043.3(BRIP1):c.1297A>G (p.Lys433Glu) rs2077947326 0.00001
NM_032043.3(BRIP1):c.1304A>G (p.His435Arg) rs730881636 0.00001
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln) rs753214212 0.00001
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met) rs1060501782 0.00001
NM_032043.3(BRIP1):c.1322T>C (p.Val441Ala) rs1458068665 0.00001
NM_032043.3(BRIP1):c.134A>G (p.Glu45Gly) rs2078950725 0.00001
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr) rs587780227 0.00001
NM_032043.3(BRIP1):c.1361A>T (p.Glu454Val) rs769918040 0.00001
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn) rs587780826 0.00001
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu) rs748221377 0.00001
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly) rs752052351 0.00001
NM_032043.3(BRIP1):c.143C>A (p.Thr48Lys) rs755317452 0.00001
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys) rs587780229 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met) rs587780230 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.1483T>C (p.Ser495Pro) rs1555603617 0.00001
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly) rs1555603565 0.00001
NM_032043.3(BRIP1):c.1571A>G (p.Gln524Arg) rs587781726 0.00001
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299 0.00001
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val) rs876658383 0.00001
NM_032043.3(BRIP1):c.1595T>C (p.Met532Thr) rs1179705368 0.00001
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys) rs1060501752 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met) rs587782254 0.00001
NM_032043.3(BRIP1):c.1651G>A (p.Ala551Thr) rs766302517 0.00001
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe) rs1375911072 0.00001
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg) rs767648925 0.00001
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val) rs45533636 0.00001
NM_032043.3(BRIP1):c.1696G>A (p.Asp566Asn) rs1289102059 0.00001
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys) rs763458922 0.00001
NM_032043.3(BRIP1):c.170T>G (p.Leu57Arg) rs1435822764 0.00001
NM_032043.3(BRIP1):c.1717C>G (p.Leu573Val) rs786202587 0.00001
NM_032043.3(BRIP1):c.1730A>T (p.Lys577Met) rs1411869768 0.00001
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133 0.00001
NM_032043.3(BRIP1):c.1748A>G (p.Lys583Arg) rs876658547 0.00001
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068 0.00001
NM_032043.3(BRIP1):c.1771T>A (p.Phe591Ile) rs876661057 0.00001
NM_032043.3(BRIP1):c.1800T>G (p.Phe600Leu) rs375625993 0.00001
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala) rs1317946589 0.00001
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr) rs770750488 0.00001
NM_032043.3(BRIP1):c.1838C>G (p.Thr613Arg) rs864622345 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_032043.3(BRIP1):c.1903C>A (p.Leu635Met) rs754280136 0.00001
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His) rs1254051324 0.00001
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile) rs780475484 0.00001
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr) rs757305097 0.00001
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg) rs1051619247 0.00001
NM_032043.3(BRIP1):c.1981T>C (p.Cys661Arg) rs876660402 0.00001
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr) rs571340013 0.00001
NM_032043.3(BRIP1):c.19G>C (p.Glu7Gln) rs1246321339 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly) rs1294492499 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.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2069G>A (p.Gly690Glu) rs878855144 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.2107A>C (p.Lys703Gln) rs762590242 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile) rs145616741 0.00001
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala) rs769797684 0.00001
NM_032043.3(BRIP1):c.2203T>C (p.Phe735Leu) rs1353526212 0.00001
NM_032043.3(BRIP1):c.2247A>T (p.Lys749Asn) rs587782556 0.00001
NM_032043.3(BRIP1):c.2257+5C>T rs1057523068 0.00001
NM_032043.3(BRIP1):c.2257+6_2257+7del rs1255940179 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile) rs769573395 0.00001
NM_032043.3(BRIP1):c.2281T>G (p.Cys761Gly) rs1422958547 0.00001
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys) rs587778136 0.00001
NM_032043.3(BRIP1):c.2330G>A (p.Arg777His) rs747568830 0.00001
NM_032043.3(BRIP1):c.2338A>C (p.Ile780Leu) rs776131401 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr) rs778758437 0.00001
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr) rs1289778155 0.00001
NM_032043.3(BRIP1):c.2380-3T>A rs587782542 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.2402A>G (p.Asn801Ser) rs1325317591 0.00001
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val) rs587780238 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His) rs760887592 0.00001
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237 0.00001
NM_032043.3(BRIP1):c.2492+5G>A rs763222019 0.00001
NM_032043.3(BRIP1):c.2535G>A (p.Val845=) rs1555574772 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val) rs28904918 0.00001
NM_032043.3(BRIP1):c.2571A>G (p.Ile857Met) rs1427254734 0.00001
NM_032043.3(BRIP1):c.2575+4A>G rs758858747 0.00001
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242 0.00001
NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys) rs774415723 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032043.3(BRIP1):c.2617A>G (p.Thr873Ala) rs758444508 0.00001
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln) rs876659099 0.00001
NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala) rs1453990721 0.00001
NM_032043.3(BRIP1):c.2671G>C (p.Val891Leu) rs754224663 0.00001
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val) rs764406913 0.00001
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr) rs1221074399 0.00001
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr) rs1060501781 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile) rs786201919 0.00001
NM_032043.3(BRIP1):c.2728G>A (p.Glu910Lys) rs1007808618 0.00001
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr) rs1003917080 0.00001
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro) rs1384396768 0.00001
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val) rs863224801 0.00001
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092 0.00001
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu) rs1259968679 0.00001
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=) rs374335608 0.00001
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly) rs756490117 0.00001
NM_032043.3(BRIP1):c.281A>G (p.Asp94Gly) rs529201896 0.00001
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln) rs863224802 0.00001
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu) rs761639530 0.00001
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632 0.00001
NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly) rs1176224216 0.00001
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679 0.00001
NM_032043.3(BRIP1):c.2905+3A>G rs1555573247 0.00001
NM_032043.3(BRIP1):c.2906-1G>A rs773639563 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val) rs770352467 0.00001
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu) rs730881627 0.00001
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser) rs781121675 0.00001
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417 0.00001
NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys) rs182087528 0.00001
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu) rs1060501756 0.00001
NM_032043.3(BRIP1):c.2995A>G (p.Arg999Gly) rs2061323811 0.00001
NM_032043.3(BRIP1):c.29T>C (p.Ile10Thr) rs786203418 0.00001
NM_032043.3(BRIP1):c.3037A>G (p.Thr1013Ala) rs1278002478 0.00001
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile) rs1372474933 0.00001
NM_032043.3(BRIP1):c.3043A>G (p.Lys1015Glu) rs769692303 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala) rs1064793073 0.00001
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272 0.00001
NM_032043.3(BRIP1):c.3071G>T (p.Gly1024Val) rs587781744 0.00001
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile) rs1060501762 0.00001
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=) rs937490699 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 0.00001
NM_032043.3(BRIP1):c.3101C>T (p.Pro1034Leu) rs1199923024 0.00001
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr) rs761225576 0.00001
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser) rs786203344 0.00001
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333 0.00001
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu) rs1285783476 0.00001
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505 0.00001
NM_032043.3(BRIP1):c.3187T>C (p.Ser1063Pro) rs2061317060 0.00001
NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu) rs1567728809 0.00001
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser) rs878855153 0.00001
NM_032043.3(BRIP1):c.320A>G (p.His107Arg) rs876659809 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.3238G>A (p.Asp1080Asn) rs786204230 0.00001
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser) rs786202024 0.00001
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr) rs878855154 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg) rs776129117 0.00001
NM_032043.3(BRIP1):c.3273T>G (p.His1091Gln) rs1281827397 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.328_333dup (p.Tyr110_Pro111dup) rs1423363607 0.00001
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala) rs876658746 0.00001
NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn) rs781102464 0.00001
NM_032043.3(BRIP1):c.3326G>A (p.Ser1109Asn) rs2061311430 0.00001
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val) rs786202549 0.00001
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile) rs778480809 0.00001
NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys) rs1603275034 0.00001
NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro) rs757363615 0.00001
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly) rs769359514 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032043.3(BRIP1):c.3492C>A (p.Cys1164Ter) rs2061304701 0.00001
NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu) rs771889454 0.00001
NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr) rs1555572570 0.00001
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr) rs587782029 0.00001
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu) rs375741316 0.00001
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs) rs777367075 0.00001
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln) rs756313788 0.00001
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val) rs752850661 0.00001
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu) rs766709841 0.00001
NM_032043.3(BRIP1):c.3578C>T (p.Thr1193Ile) rs1368343911 0.00001
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly) rs776010326 0.00001
NM_032043.3(BRIP1):c.361A>G (p.Thr121Ala) rs1567874478 0.00001
NM_032043.3(BRIP1):c.3620A>T (p.Asp1207Val) rs139539831 0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728 0.00001
NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys) rs1060501734 0.00001
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys) rs587780250 0.00001
NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser) rs1196057129 0.00001
NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys) rs763579793 0.00001
NM_032043.3(BRIP1):c.379G>A (p.Asp127Asn) rs1311206718 0.00001
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys) rs762701532 0.00001
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser) rs1265322103 0.00001
NM_032043.3(BRIP1):c.53C>T (p.Pro18Leu) rs1415589484 0.00001
NM_032043.3(BRIP1):c.569G>A (p.Gly190Glu) rs756269682 0.00001
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys) rs876660880 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_032043.3(BRIP1):c.641G>C (p.Cys214Ser) rs779409059 0.00001
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg) rs730881630 0.00001
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg) rs786203708 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu) rs1292425366 0.00001
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro) rs1490001091 0.00001
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro) rs771542690 0.00001
NM_032043.3(BRIP1):c.752G>A (p.Arg251His) rs780834054 0.00001
NM_032043.3(BRIP1):c.773A>G (p.Gln258Arg) rs1567838078 0.00001
NM_032043.3(BRIP1):c.774G>C (p.Gln258His) rs1198536492 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.799G>A (p.Ala267Thr) rs865910081 0.00001
NM_032043.3(BRIP1):c.808G>T (p.Gly270Trp) rs1401241698 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser) rs45624635 0.00001
NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp) rs148556781 0.00001
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser) rs746599076 0.00001
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys) rs587782731 0.00001
NM_032043.3(BRIP1):c.963T>A (p.Asp321Glu) rs1555607779 0.00001
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe) rs772319724 0.00001
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424 0.00001
NM_032444.4(SLX4):c.*1047G>A rs1485693438 0.00001
NM_032444.4(SLX4):c.*1150G>C rs886051972 0.00001
NM_032444.4(SLX4):c.*73G>A rs1461608259 0.00001
NM_032444.4(SLX4):c.*811G>C rs371879504 0.00001
NM_032444.4(SLX4):c.*871A>G rs886051974 0.00001
NM_032444.4(SLX4):c.*957C>T rs886051973 0.00001
NM_032444.4(SLX4):c.-112C>A rs779687936 0.00001
NM_032444.4(SLX4):c.-205G>A rs937724885 0.00001
NM_032444.4(SLX4):c.-616C>T rs886051988 0.00001
NM_032444.4(SLX4):c.1034C>A (p.Thr345Asn) rs751770341 0.00001
NM_032444.4(SLX4):c.1054C>T (p.His352Tyr) rs1247465227 0.00001
NM_032444.4(SLX4):c.1109C>T (p.Ala370Val) rs189224493 0.00001
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg) rs188729744 0.00001
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe) rs141167501 0.00001
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp) rs1052888437 0.00001
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys) rs199774640 0.00001
NM_032444.4(SLX4):c.1163+5G>A rs762454252 0.00001
NM_032444.4(SLX4):c.1178G>A (p.Ser393Asn) rs112301713 0.00001
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu) rs202204661 0.00001
NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp) rs532023958 0.00001
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu) rs763337738 0.00001
NM_032444.4(SLX4):c.1324A>C (p.Arg442=) rs886051980 0.00001
NM_032444.4(SLX4):c.13G>A (p.Val5Met) rs750091754 0.00001
NM_032444.4(SLX4):c.1429G>C (p.Glu477Gln) rs748957904 0.00001
NM_032444.4(SLX4):c.1456C>T (p.Arg486Cys) rs1483311055 0.00001
NM_032444.4(SLX4):c.1457G>A (p.Arg486His) rs558236399 0.00001
NM_032444.4(SLX4):c.1462G>A (p.Ala488Thr) rs2040677379 0.00001
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser) rs200337039 0.00001
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe) rs1326014010 0.00001
NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg) rs769495113 0.00001
NM_032444.4(SLX4):c.1555T>C (p.Cys519Arg) rs746419738 0.00001
NM_032444.4(SLX4):c.1597G>C (p.Gly533Arg) rs200437227 0.00001
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr) rs776394340 0.00001
NM_032444.4(SLX4):c.1627G>A (p.Glu543Lys) rs377148341 0.00001
NM_032444.4(SLX4):c.1630G>A (p.Asp544Asn) rs773395054 0.00001
NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro) rs781416857 0.00001
NM_032444.4(SLX4):c.1673G>A (p.Arg558Gln) rs773558127 0.00001
NM_032444.4(SLX4):c.1691T>C (p.Met564Thr) rs1315121473 0.00001
NM_032444.4(SLX4):c.1714G>A (p.Val572Met) rs745678074 0.00001
NM_032444.4(SLX4):c.1715T>A (p.Val572Glu) rs551757021 0.00001
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn) rs755653940 0.00001
NM_032444.4(SLX4):c.1745G>A (p.Arg582Gln) rs755044096 0.00001
NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser) rs2040658116 0.00001
NM_032444.4(SLX4):c.1765G>A (p.Gly589Ser) rs553750741 0.00001
NM_032444.4(SLX4):c.1795G>T (p.Gly599Cys) rs770845528 0.00001
NM_032444.4(SLX4):c.1805C>T (p.Pro602Leu) rs956483964 0.00001
NM_032444.4(SLX4):c.1810G>A (p.Ala604Thr) rs2040655815 0.00001
NM_032444.4(SLX4):c.1811C>G (p.Ala604Gly) rs953252183 0.00001
NM_032444.4(SLX4):c.1841A>T (p.Asp614Val) rs966027727 0.00001
NM_032444.4(SLX4):c.1856C>T (p.Ala619Val) rs371325486 0.00001
NM_032444.4(SLX4):c.1910C>T (p.Ser637Leu) rs200475686 0.00001
NM_032444.4(SLX4):c.1919C>A (p.Thr640Asn) rs1340467468 0.00001
NM_032444.4(SLX4):c.1933G>A (p.Val645Met) rs769084265 0.00001
NM_032444.4(SLX4):c.194A>G (p.His65Arg) rs1003415542 0.00001
NM_032444.4(SLX4):c.1952C>T (p.Pro651Leu) rs1490630727 0.00001
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu) rs372150541 0.00001
NM_032444.4(SLX4):c.199A>G (p.Ile67Val) rs751802145 0.00001
NM_032444.4(SLX4):c.2020C>T (p.Leu674Phe) rs777279668 0.00001
NM_032444.4(SLX4):c.2021T>G (p.Leu674Arg) rs889646690 0.00001
NM_032444.4(SLX4):c.2038G>C (p.Asp680His) rs1041739465 0.00001
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile) rs2040629635 0.00001
NM_032444.4(SLX4):c.2090C>T (p.Thr697Met) rs554989399 0.00001
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu) rs373081094 0.00001
NM_032444.4(SLX4):c.2114C>T (p.Ala705Val) rs1262656321 0.00001
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe) rs768477511 0.00001
NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser) rs770015489 0.00001
NM_032444.4(SLX4):c.2208G>C (p.Gln736His) rs1293011888 0.00001
NM_032444.4(SLX4):c.2227G>A (p.Val743Met) rs747832147 0.00001
NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys) rs758785487 0.00001
NM_032444.4(SLX4):c.2242G>A (p.Ala748Thr) rs373178144 0.00001
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys) rs753926402 0.00001
NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala) rs1567171612 0.00001
NM_032444.4(SLX4):c.2273C>T (p.Ala758Val) rs747563780 0.00001
NM_032444.4(SLX4):c.2274G>A (p.Ala758=) rs780854919 0.00001
NM_032444.4(SLX4):c.2334C>T (p.Gly778=) rs1235572029 0.00001
NM_032444.4(SLX4):c.2360A>G (p.Glu787Gly) rs1596522964 0.00001
NM_032444.4(SLX4):c.2389G>A (p.Gly797Ser) rs373595621 0.00001
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys) rs546657275 0.00001
NM_032444.4(SLX4):c.2432G>A (p.Arg811Lys) rs778547872 0.00001
NM_032444.4(SLX4):c.2438A>G (p.Glu813Gly) rs748712996 0.00001
NM_032444.4(SLX4):c.2464A>G (p.Met822Val) rs779985555 0.00001
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser) rs200319106 0.00001
NM_032444.4(SLX4):c.2489C>T (p.Ala830Val) rs757069261 0.00001
NM_032444.4(SLX4):c.2499G>T (p.Leu833Phe) rs764020001 0.00001
NM_032444.4(SLX4):c.2513A>G (p.Asp838Gly) rs1060501794 0.00001
NM_032444.4(SLX4):c.2518G>A (p.Glu840Lys) rs759271070 0.00001
NM_032444.4(SLX4):c.2557G>C (p.Glu853Gln) rs1465800756 0.00001
NM_032444.4(SLX4):c.2579C>T (p.Thr860Ile) rs747515305 0.00001
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter) rs200715208 0.00001
NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr) rs779039237 0.00001
NM_032444.4(SLX4):c.2621G>A (p.Gly874Asp) rs150402424 0.00001
NM_032444.4(SLX4):c.2629G>A (p.Ala877Thr) rs761296000 0.00001
NM_032444.4(SLX4):c.2684A>G (p.Gln895Arg) rs779708181 0.00001
NM_032444.4(SLX4):c.2776T>C (p.Cys926Arg) rs201703364 0.00001
NM_032444.4(SLX4):c.2779G>A (p.Ala927Thr) rs767916829 0.00001
NM_032444.4(SLX4):c.2828C>A (p.Ala943Asp) rs745380963 0.00001
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys) rs772190416 0.00001
NM_032444.4(SLX4):c.2892C>G (p.Asp964Glu) rs1311904834 0.00001
NM_032444.4(SLX4):c.2896C>G (p.Gln966Glu) rs770456496 0.00001
NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln) rs777514343 0.00001
NM_032444.4(SLX4):c.2928C>G (p.His976Gln) rs1054086781 0.00001
NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly) rs1047744954 0.00001
NM_032444.4(SLX4):c.3041G>A (p.Arg1014Lys) rs756448789 0.00001
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=) rs746254787 0.00001
NM_032444.4(SLX4):c.3122A>T (p.Gln1041Leu) rs1384033342 0.00001
NM_032444.4(SLX4):c.3124G>C (p.Gly1042Arg) rs750349545 0.00001
NM_032444.4(SLX4):c.3139G>A (p.Gly1047Arg) rs561815282 0.00001
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=) rs1484366381 0.00001
NM_032444.4(SLX4):c.3188G>A (p.Gly1063Asp) rs750149671 0.00001
NM_032444.4(SLX4):c.3269C>T (p.Thr1090Met) rs780143733 0.00001
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys) rs200708159 0.00001
NM_032444.4(SLX4):c.3308G>A (p.Arg1103His) rs201618094 0.00001
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) rs201582780 0.00001
NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val) rs766081510 0.00001
NM_032444.4(SLX4):c.3371T>C (p.Ile1124Thr) rs2040567955 0.00001
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr) rs1391353238 0.00001
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194 0.00001
NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu) rs769688259 0.00001
NM_032444.4(SLX4):c.3566G>A (p.Cys1189Tyr) rs766648339 0.00001
NM_032444.4(SLX4):c.3578C>T (p.Ser1193Phe) rs368695839 0.00001
NM_032444.4(SLX4):c.3605A>G (p.Glu1202Gly) rs1414947508 0.00001
NM_032444.4(SLX4):c.3631G>A (p.Glu1211Lys) rs202032197 0.00001
NM_032444.4(SLX4):c.3650A>G (p.Glu1217Gly) rs761680381 0.00001
NM_032444.4(SLX4):c.3673A>G (p.Asn1225Asp) rs878855161 0.00001
NM_032444.4(SLX4):c.3676_3678dup (p.Arg1226dup) rs1567169873 0.00001
NM_032444.4(SLX4):c.3683C>A (p.Ser1228Tyr) rs755523528 0.00001
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg) rs760493361 0.00001
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys) rs771835799 0.00001
NM_032444.4(SLX4):c.3739G>A (p.Glu1247Lys) rs978074181 0.00001
NM_032444.4(SLX4):c.3761C>T (p.Ser1254Leu) rs750580998 0.00001
NM_032444.4(SLX4):c.37T>C (p.Tyr13His) rs2040817612 0.00001
NM_032444.4(SLX4):c.3800G>A (p.Arg1267His) rs775711964 0.00001
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser) rs779426291 0.00001
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly) rs1252550783 0.00001
NM_032444.4(SLX4):c.3894C>G (p.Asn1298Lys) rs1260811996 0.00001
NM_032444.4(SLX4):c.3907G>A (p.Glu1303Lys) rs759828401 0.00001
NM_032444.4(SLX4):c.3912C>T (p.Val1304=) rs140254478 0.00001
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe) rs556682517 0.00001
NM_032444.4(SLX4):c.3931A>G (p.Ile1311Val) rs1196234101 0.00001
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg) rs776760390 0.00001
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro) rs745595506 0.00001
NM_032444.4(SLX4):c.4055C>T (p.Pro1352Leu) rs144720266 0.00001
NM_032444.4(SLX4):c.4066C>G (p.Pro1356Ala) rs532756081 0.00001
NM_032444.4(SLX4):c.4078C>T (p.His1360Tyr) rs1282208383 0.00001
NM_032444.4(SLX4):c.4079A>T (p.His1360Leu) rs1060501793 0.00001
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys) rs368434737 0.00001
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu) rs770241338 0.00001
NM_032444.4(SLX4):c.4240C>G (p.Pro1414Ala) rs2040548472 0.00001
NM_032444.4(SLX4):c.424G>C (p.Gly142Arg) rs773117024 0.00001
NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln) rs756660911 0.00001
NM_032444.4(SLX4):c.4339G>A (p.Gly1447Ser) rs371090786 0.00001
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=) rs373300793 0.00001
NM_032444.4(SLX4):c.4397A>G (p.Asp1466Gly) rs753668854 0.00001
NM_032444.4(SLX4):c.4415T>C (p.Leu1472Pro) rs938457122 0.00001
NM_032444.4(SLX4):c.4483G>A (p.Ala1495Thr) rs762565535 0.00001
NM_032444.4(SLX4):c.4496G>A (p.Gly1499Glu) rs1231411840 0.00001
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg) rs775915651 0.00001
NM_032444.4(SLX4):c.4552G>A (p.Glu1518Lys) rs760096901 0.00001
NM_032444.4(SLX4):c.4597G>A (p.Ala1533Thr) rs200377191 0.00001
NM_032444.4(SLX4):c.4607C>T (p.Ala1536Val) rs759939338 0.00001
NM_032444.4(SLX4):c.460C>T (p.Arg154Trp) rs141639275 0.00001
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys) rs769950582 0.00001
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser) rs893507870 0.00001
NM_032444.4(SLX4):c.4691C>G (p.Pro1564Arg) rs1478218856 0.00001
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe) rs755754734 0.00001
NM_032444.4(SLX4):c.4714C>G (p.Pro1572Ala) rs753904877 0.00001
NM_032444.4(SLX4):c.4739+6C>T rs770758859 0.00001
NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu) rs148228302 0.00001
NM_032444.4(SLX4):c.4773G>A (p.Met1591Ile) rs757589951 0.00001
NM_032444.4(SLX4):c.4780A>C (p.Lys1594Gln) rs1567166631 0.00001
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala) rs1480904013 0.00001
NM_032444.4(SLX4):c.4845G>C (p.Gln1615His) rs988625732 0.00001
NM_032444.4(SLX4):c.4880A>G (p.Gln1627Arg) rs1346015743 0.00001
NM_032444.4(SLX4):c.4882A>T (p.Thr1628Ser) rs201688321 0.00001
NM_032444.4(SLX4):c.4888G>A (p.Ala1630Thr) rs776578234 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_032444.4(SLX4):c.4898C>T (p.Thr1633Ile) rs1173889397 0.00001
NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser) rs145557355 0.00001
NM_032444.4(SLX4):c.4939G>A (p.Ala1647Thr) rs2040464512 0.00001
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg) rs200507644 0.00001
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter) rs1291935778 0.00001
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu) rs530123827 0.00001
NM_032444.4(SLX4):c.5056G>A (p.Ala1686Thr) rs751219957 0.00001
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val) rs761226343 0.00001
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn) rs754498907 0.00001
NM_032444.4(SLX4):c.5186A>G (p.Glu1729Gly) rs1203040904 0.00001
NM_032444.4(SLX4):c.5189C>G (p.Ser1730Cys) rs376960842 0.00001
NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg) rs200262630 0.00001
NM_032444.4(SLX4):c.5278A>C (p.Ile1760Leu) rs377648201 0.00001
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His) rs1555449297 0.00001
NM_032444.4(SLX4):c.5318A>G (p.Tyr1773Cys) rs769567874 0.00001
NM_032444.4(SLX4):c.533G>T (p.Arg178Ile) rs1216948562 0.00001
NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro) rs562491450 0.00001
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser) rs374876624 0.00001
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His) rs926700658 0.00001
NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly) rs770529698 0.00001
NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr) rs772332386 0.00001
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg) rs746191123 0.00001
NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp) rs375100050 0.00001
NM_032444.4(SLX4):c.5498G>A (p.Arg1833Gln) rs751456750 0.00001
NM_032444.4(SLX4):c.595A>G (p.Ser199Gly) rs770098753 0.00001
NM_032444.4(SLX4):c.622T>A (p.Leu208Met) rs1453789700 0.00001
NM_032444.4(SLX4):c.635G>A (p.Arg212Gln) rs575953567 0.00001
NM_032444.4(SLX4):c.702G>C (p.Glu234Asp) rs201161027 0.00001
NM_032444.4(SLX4):c.703G>C (p.Ala235Pro) rs754917250 0.00001
NM_032444.4(SLX4):c.755G>A (p.Gly252Glu) rs1060501795 0.00001
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr) rs755289589 0.00001
NM_032444.4(SLX4):c.842C>G (p.Ala281Gly) rs1263321133 0.00001
NM_032444.4(SLX4):c.860G>T (p.Ser287Ile) rs1264580208 0.00001
NM_032444.4(SLX4):c.862C>A (p.Leu288Met) rs777370394 0.00001
NM_032444.4(SLX4):c.874G>A (p.Gly292Ser) rs780402573 0.00001
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg) rs778643553 0.00001
NM_032444.4(SLX4):c.941A>G (p.His314Arg) rs1274906202 0.00001
NM_032444.4(SLX4):c.973A>T (p.Thr325Ser) rs181942292 0.00001
NM_032444.4(SLX4):c.983C>T (p.Pro328Leu) rs760336082 0.00001
NM_032451.2(SPIRE2):c.245-5527C>G rs2041486621 0.00001
NM_032888.4(COL27A1):c.5215A>G (p.Lys1739Glu) rs1829161753 0.00001
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1067A>C (p.His356Pro) rs1064796598 0.00001
NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys) rs965712410 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg) rs1203426032 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.1851+5C>T rs375595062 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn) rs779236550 0.00001
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys) rs1332128088 0.00001
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) rs794727330 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala) rs565504126 0.00001
NM_052989.3(IFT122):c.2482T>C (p.Tyr828His) rs1298243007 0.00001
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys) rs750010740 0.00001
NM_052989.3(IFT122):c.2878C>T (p.Arg960Cys) rs765190529 0.00001
NM_052989.3(IFT122):c.2887-3C>T rs773452716 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met) rs147517019 0.00001
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu) rs373326394 0.00001
NM_052989.3(IFT122):c.349+4C>T rs753626217 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys) rs373212863 0.00001
NM_052989.3(IFT122):c.832G>A (p.Ala278Thr) rs773531126 0.00001
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys) rs775510906 0.00001
NM_058216.3(RAD51C):c.-2C>T rs876658796 0.00001
NM_058216.3(RAD51C):c.1016T>C (p.Phe339Ser) rs1060502602 0.00001
NM_058216.3(RAD51C):c.1031A>G (p.Gln344Arg) rs2049559372 0.00001
NM_058216.3(RAD51C):c.1043A>T (p.Asp348Val) rs111614311 0.00001
NM_058216.3(RAD51C):c.1046C>T (p.Thr349Ile) rs776823687 0.00001
NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile) rs1160208500 0.00001
NM_058216.3(RAD51C):c.1055C>A (p.Thr352Asn) rs786203771 0.00001
NM_058216.3(RAD51C):c.1061C>T (p.Ala354Val) rs761770500 0.00001
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr) rs1555605562 0.00001
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp) rs587782449 0.00001
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln) rs577852020 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.145+5C>A rs876660577 0.00001
NM_058216.3(RAD51C):c.145+5C>T rs876660577 0.00001
NM_058216.3(RAD51C):c.146-7C>G rs1428658524 0.00001
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu) rs730881927 0.00001
NM_058216.3(RAD51C):c.161A>C (p.Lys54Thr) rs587782296 0.00001
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val) rs730881928 0.00001
NM_058216.3(RAD51C):c.185A>G (p.Gln62Arg) rs1308150896 0.00001
NM_058216.3(RAD51C):c.194G>C (p.Arg65Thr) rs2047943468 0.00001
NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser) rs759759863 0.00001
NM_058216.3(RAD51C):c.1A>G (p.Met1Val) rs921435798 0.00001
NM_058216.3(RAD51C):c.20G>A (p.Arg7His) rs892567748 0.00001
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu) rs775224480 0.00001
NM_058216.3(RAD51C):c.21C>G (p.Arg7=) rs1443654986 0.00001
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) rs112832782 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.253T>C (p.Cys85Arg) rs1060502595 0.00001
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu) rs1452865935 0.00001
NM_058216.3(RAD51C):c.29T>G (p.Met10Arg) rs730881936 0.00001
NM_058216.3(RAD51C):c.307T>A (p.Phe103Ile) rs1114167446 0.00001
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg) rs786203690 0.00001
NM_058216.3(RAD51C):c.35G>A (p.Arg12Gln) rs764394130 0.00001
NM_058216.3(RAD51C):c.35G>C (p.Arg12Pro) rs764394130 0.00001
NM_058216.3(RAD51C):c.361A>G (p.Thr121Ala) rs969395239 0.00001
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser) rs1273995533 0.00001
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr) rs587782222 0.00001
NM_058216.3(RAD51C):c.385G>A (p.Val129Ile) rs1555593879 0.00001
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886 0.00001
NM_058216.3(RAD51C):c.404+7T>C rs1350153132 0.00001
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu) rs587780254 0.00001
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile) rs587780836 0.00001
NM_058216.3(RAD51C):c.418G>C (p.Val140Leu) rs730881938 0.00001
NM_058216.3(RAD51C):c.434C>T (p.Pro145Leu) rs1291341143 0.00001
NM_058216.3(RAD51C):c.435A>G (p.Pro145=) rs555235745 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_058216.3(RAD51C):c.460G>A (p.Glu154Lys) rs1194019460 0.00001
NM_058216.3(RAD51C):c.46A>G (p.Ser16Gly) rs762060755 0.00001
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly) rs776904180 0.00001
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala) rs765300465 0.00001
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr) rs587780838 0.00001
NM_058216.3(RAD51C):c.536A>G (p.His179Arg) rs1064794989 0.00001
NM_058216.3(RAD51C):c.53C>T (p.Pro18Leu) rs754498936 0.00001
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val) rs753475114 0.00001
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr) rs756727559 0.00001
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr) rs1060502604 0.00001
NM_058216.3(RAD51C):c.556A>C (p.Lys186Gln) rs1363104728 0.00001
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met) rs587781680 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln) rs587782332 0.00001
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val) rs531838785 0.00001
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp) rs538884532 0.00001
NM_058216.3(RAD51C):c.620A>G (p.His207Arg) rs587781921 0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln) rs786201848 0.00001
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val) rs771078849 0.00001
NM_058216.3(RAD51C):c.62C>T (p.Pro21Leu) rs587782511 0.00001
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys) rs137947462 0.00001
NM_058216.3(RAD51C):c.641G>A (p.Arg214His) rs760911964 0.00001
NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly) rs1483938000 0.00001
NM_058216.3(RAD51C):c.653A>G (p.Glu218Gly) rs1321358603 0.00001
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791 0.00001
NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu) rs1374461662 0.00001
NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu) rs780177888 0.00001
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln) rs370393672 0.00001
NM_058216.3(RAD51C):c.722T>C (p.Val241Ala) rs1555599127 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.740C>T (p.Pro247Leu) rs2048495457 0.00001
NM_058216.3(RAD51C):c.748C>T (p.His250Tyr) rs531540031 0.00001
NM_058216.3(RAD51C):c.758A>G (p.Asp253Gly) rs1060502592 0.00001
NM_058216.3(RAD51C):c.76A>G (p.Lys26Glu) rs1233718307 0.00001
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474 0.00001
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln) rs730881926 0.00001
NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr) rs749645694 0.00001
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu) rs1555602145 0.00001
NM_058216.3(RAD51C):c.899C>T (p.Ala300Val) rs1444333199 0.00001
NM_058216.3(RAD51C):c.92G>A (p.Gly31Glu) rs587781441 0.00001
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_058216.3(RAD51C):c.952G>T (p.Asp318Tyr) rs876659875 0.00001
NM_058216.3(RAD51C):c.965+4A>G rs1555603065 0.00001
NM_058216.3(RAD51C):c.966-1G>C rs876658272 0.00001
NM_058216.3(RAD51C):c.966-8T>G rs1181139153 0.00001
NM_058216.3(RAD51C):c.982A>G (p.Lys328Glu) rs1555605064 0.00001
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) rs1156566104 0.00001
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) rs924068844 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly) rs766519442 0.00001
NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys) rs765337103 0.00001
NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser) rs748952705 0.00001
NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys) rs1260565985 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter) rs760986725 0.00001
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser) rs760685441 0.00001
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653 0.00001
NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro) rs777233616 0.00001
NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe) rs1381077083 0.00001
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) rs374677519 0.00001
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe) rs1638568014 0.00001
NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu) rs1216124589 0.00001
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro) rs1434211258 0.00001
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys) rs1284101388 0.00001
NM_080680.3(COL11A2):c.*439C>A rs886061313 0.00001
NM_080680.3(COL11A2):c.2215-11A>G rs557236389 0.00001
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys) rs376355040 0.00001
NM_080680.3(COL11A2):c.2431-4C>T rs1457746213 0.00001
NM_080680.3(COL11A2):c.2530-4G>A rs891664323 0.00001
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys) rs780613380 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser) rs1769701069 0.00001
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315 0.00001
NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu) rs780158388 0.00001
NM_080680.3(COL11A2):c.4231-4C>G rs564087840 0.00001
NM_080680.3(COL11A2):c.453T>C (p.Arg151=) rs147115504 0.00001
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile) rs766589324 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093 0.00001
NM_080680.3(COL11A2):c.799-3C>T rs1772340099 0.00001
NM_133433.4(NIPBL):c.*351G>A rs185780527 0.00001
NM_133433.4(NIPBL):c.-379G>A rs886060555 0.00001
NM_133433.4(NIPBL):c.-79-11559C>T rs1436464402 0.00001
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) rs587783881 0.00001
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584 0.00001
NM_133433.4(NIPBL):c.1593G>A (p.Thr531=) rs760769176 0.00001
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137 0.00001
NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly) rs144812404 0.00001
NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp) rs774516564 0.00001
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370 0.00001
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=) rs587783908 0.00001
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His) rs201163469 0.00001
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His) rs918012033 0.00001
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=) rs765887558 0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916 0.00001
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) rs376768802 0.00001
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) rs587783920 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly) rs775247210 0.00001
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935 0.00001
NM_133433.4(NIPBL):c.3894C>G (p.Asp1298Glu) rs770936588 0.00001
NM_133433.4(NIPBL):c.42G>A (p.Ala14=) rs727504045 0.00001
NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe) rs1580456602 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 0.00001
NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln) rs200692598 0.00001
NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser) rs150683463 0.00001
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu) rs886042731 0.00001
NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys) rs1355970346 0.00001
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile) rs775077572 0.00001
NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala) rs376084993 0.00001
NM_133433.4(NIPBL):c.617T>A (p.Val206Glu) rs1742780375 0.00001
NM_133433.4(NIPBL):c.6189A>T (p.Glu2063Asp) rs773286952 0.00001
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=) rs587784028 0.00001
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559 0.00001
NM_133433.4(NIPBL):c.7411-15G>A rs374348403 0.00001
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675 0.00001
NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn) rs961989627 0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046 0.00001
NM_147127.5(EVC2):c.1006-12A>G rs1205381388 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu) rs1468421367 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile) rs1209098952 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.1711-6T>A rs780082286 0.00001
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) rs1222356750 0.00001
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr) rs765933739 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly) rs754390055 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg) rs577020845 0.00001
NM_147127.5(EVC2):c.2424G>C (p.Gln808His) rs541956407 0.00001
NM_147127.5(EVC2):c.2706+5G>T rs747272944 0.00001
NM_147127.5(EVC2):c.2707-3C>T rs755042717 0.00001
NM_147127.5(EVC2):c.283+18T>G rs894951363 0.00001
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu) rs1228531350 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe) rs897972159 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met) rs775202977 0.00001
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr) rs748514374 0.00001
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His) rs1346353134 0.00001
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn) rs752599166 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro) rs746578489 0.00001
NM_147127.5(EVC2):c.551G>A (p.Arg184His) rs771841841 0.00001
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr) rs754001550 0.00001
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908 0.00001
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg) rs771493745 0.00001
NM_152281.2(GORAB):c.5G>T (p.Ser2Ile) rs148313748 0.00001
NM_152281.3(GORAB):c.*222G>T rs886045553 0.00001
NM_152281.3(GORAB):c.*998A>G rs1364927513 0.00001
NM_152281.3(GORAB):c.113T>G (p.Leu38Arg) rs781535204 0.00001
NM_152281.3(GORAB):c.274A>G (p.Thr92Ala) rs759352018 0.00001
NM_152281.3(GORAB):c.61+13G>T rs202005173 0.00001
NM_152281.3(GORAB):c.648C>G (p.Asp216Glu) rs780332229 0.00001
NM_152281.3(GORAB):c.649T>C (p.Tyr217His) rs749490786 0.00001
NM_152281.3(GORAB):c.658G>A (p.Ala220Thr) rs183596463 0.00001
NM_152281.3(GORAB):c.785G>A (p.Arg262Gln) rs145193965 0.00001
NM_152281.3(GORAB):c.805G>A (p.Glu269Lys) rs765224001 0.00001
NM_152281.3(GORAB):c.82C>T (p.Arg28Cys) rs761243601 0.00001
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1283C>T (p.Ala428Val) rs1409088904 0.00001
NM_153717.3(EVC):c.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1683C>T (p.Val561=) rs913909906 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 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.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser) rs771505230 0.00001
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly) rs1651628416 0.00001
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 0.00001
NM_181486.4(TBX5):c.*129A>G rs28730760 0.00001
NM_181486.4(TBX5):c.*147T>C rs886048996 0.00001
NM_181486.4(TBX5):c.*718G>A rs886048993 0.00001
NM_181486.4(TBX5):c.456C>T (p.Leu152=) rs775748269 0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu) rs1479545982 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_182943.3(PLOD2):c.*63T>G rs1446618037 0.00001
NM_182943.3(PLOD2):c.1244C>T (p.Ala415Val) rs1323985527 0.00001
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter) rs750664256 0.00001
NM_182943.3(PLOD2):c.1450C>T (p.Arg484Cys) rs774012315 0.00001
NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg) rs148051196 0.00001
NM_182943.3(PLOD2):c.1855C>T (p.Arg619Cys) rs759871520 0.00001
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) rs121434461 0.00001
NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp) rs368177696 0.00001
NM_182943.3(PLOD2):c.778-6T>G rs768543431 0.00001
NM_182943.3(PLOD2):c.898A>G (p.Ile300Val) rs757119517 0.00001
NM_198239.2(CCN6):c.783+14A>G rs781966767 0.00001
NM_198525.3(KIF7):c.1180C>T (p.Pro394Ser) rs1298790380 0.00001
NM_198525.3(KIF7):c.1208T>C (p.Met403Thr) rs1419911490 0.00001
NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) rs759424882 0.00001
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr) rs567836651 0.00001
NM_198525.3(KIF7):c.787G>T (p.Gly263Cys) rs1169060633 0.00001
NM_198525.3(KIF7):c.976G>A (p.Val326Ile) rs1964066861 0.00001
NM_203486.3(DLL3):c.1101C>T (p.Leu367=) rs1434611786 0.00001
NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys) rs765517369 0.00001
NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg) rs985766992 0.00001
NM_203486.3(DLL3):c.1383A>C (p.Gly461=) rs886054433 0.00001
NM_203486.3(DLL3):c.409+6T>C rs995675341 0.00001
NM_203486.3(DLL3):c.478C>T (p.Arg160Trp) rs376907733 0.00001
NM_203486.3(DLL3):c.779C>A (p.Pro260His) rs748649010 0.00001
NM_203486.3(DLL3):c.933G>A (p.Val311=) rs760420806 0.00001
NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln) rs1057518720 0.00001
NM_213599.3(ANO5):c.1180+6T>C rs746314556 0.00001
NM_213599.3(ANO5):c.1203G>T (p.Trp401Cys) rs886042339 0.00001
NM_213599.3(ANO5):c.1318A>G (p.Asn440Asp) rs1205351330 0.00001
NM_213599.3(ANO5):c.1332+5A>G rs1287723428 0.00001
NM_213599.3(ANO5):c.1333-9A>G rs538243103 0.00001
NM_213599.3(ANO5):c.136A>G (p.Met46Val) rs537770163 0.00001
NM_213599.3(ANO5):c.1417G>A (p.Val473Ile) rs202040709 0.00001
NM_213599.3(ANO5):c.1578C>G (p.Ile526Met) rs373972893 0.00001
NM_213599.3(ANO5):c.1594T>C (p.Phe532Leu) rs768109557 0.00001
NM_213599.3(ANO5):c.1609T>C (p.Ser537Pro) rs773518330 0.00001
NM_213599.3(ANO5):c.1630+5del rs1064795273 0.00001
NM_213599.3(ANO5):c.1723G>A (p.Val575Ile) rs751404759 0.00001
NM_213599.3(ANO5):c.1746C>A (p.Phe582Leu) rs267602823 0.00001
NM_213599.3(ANO5):c.1800+5G>A rs794727179 0.00001
NM_213599.3(ANO5):c.1801T>C (p.Cys601Arg) rs201467684 0.00001
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg) rs754497228 0.00001
NM_213599.3(ANO5):c.1888G>A (p.Ala630Thr) rs751996270 0.00001
NM_213599.3(ANO5):c.1894T>G (p.Tyr632Asp) rs748238790 0.00001
NM_213599.3(ANO5):c.1922G>A (p.Arg641His) rs200265848 0.00001
NM_213599.3(ANO5):c.1934G>A (p.Arg645Gln) rs762414395 0.00001
NM_213599.3(ANO5):c.1957A>G (p.Ser653Gly) rs370610082 0.00001
NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro) rs1472414854 0.00001
NM_213599.3(ANO5):c.2000T>A (p.Leu667His) rs1294495622 0.00001
NM_213599.3(ANO5):c.2096T>C (p.Ile699Thr) rs772625102 0.00001
NM_213599.3(ANO5):c.2125G>T (p.Ala709Ser) rs868221979 0.00001
NM_213599.3(ANO5):c.2317A>G (p.Met773Val) rs751028884 0.00001
NM_213599.3(ANO5):c.2320A>G (p.Thr774Ala) rs1305665401 0.00001
NM_213599.3(ANO5):c.2347G>A (p.Val783Ile) rs756648592 0.00001
NM_213599.3(ANO5):c.2348T>C (p.Val783Ala) rs778067880 0.00001
NM_213599.3(ANO5):c.2390A>G (p.Glu797Gly) rs772852694 0.00001
NM_213599.3(ANO5):c.2425T>G (p.Tyr809Asp) rs781142402 0.00001
NM_213599.3(ANO5):c.2458T>C (p.Phe820Leu) rs769775434 0.00001
NM_213599.3(ANO5):c.2513T>C (p.Val838Ala) rs1295612924 0.00001
NM_213599.3(ANO5):c.2516T>C (p.Met839Thr) rs150442899 0.00001
NM_213599.3(ANO5):c.2520+6C>T rs886042378 0.00001
NM_213599.3(ANO5):c.2521-1del rs752982710 0.00001
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236 0.00001
NM_213599.3(ANO5):c.263A>G (p.Asp88Gly) rs1206860357 0.00001
NM_213599.3(ANO5):c.265G>T (p.Asp89Tyr) rs766228901 0.00001
NM_213599.3(ANO5):c.2717C>T (p.Ala906Val) rs764351643 0.00001
NM_213599.3(ANO5):c.293C>T (p.Ala98Val) rs201776515 0.00001
NM_213599.3(ANO5):c.331A>C (p.Thr111Pro) rs778956037 0.00001
NM_213599.3(ANO5):c.415G>T (p.Val139Leu) rs753871250 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213599.3(ANO5):c.436G>A (p.Val146Ile) rs1396031481 0.00001
NM_213599.3(ANO5):c.463G>A (p.Glu155Lys) rs377650308 0.00001
NM_213599.3(ANO5):c.475C>A (p.Pro159Thr) rs866752563 0.00001
NM_213599.3(ANO5):c.49G>A (p.Val17Ile) rs760992965 0.00001
NM_213599.3(ANO5):c.512G>A (p.Gly171Glu) rs977056246 0.00001
NM_213599.3(ANO5):c.517G>C (p.Val173Leu) rs775841716 0.00001
NM_213599.3(ANO5):c.545C>T (p.Pro182Leu) rs1319423412 0.00001
NM_213599.3(ANO5):c.632C>T (p.Ser211Leu) rs142939381 0.00001
NM_213599.3(ANO5):c.637A>G (p.Arg213Gly) rs1490746741 0.00001
NM_213599.3(ANO5):c.648+5G>A rs752512585 0.00001
NM_213599.3(ANO5):c.650T>C (p.Val217Ala) rs749876289 0.00001
NM_213599.3(ANO5):c.656A>G (p.Tyr219Cys) rs753667370 0.00001
NM_213599.3(ANO5):c.664T>C (p.Ser222Pro) rs886042372 0.00001
NM_213599.3(ANO5):c.671G>C (p.Cys224Ser) rs749915913 0.00001
NM_213599.3(ANO5):c.6C>T (p.Gly2=) rs781074405 0.00001
NM_213599.3(ANO5):c.754C>T (p.Leu252Phe) rs1159326828 0.00001
NM_213599.3(ANO5):c.763-3C>T rs756702010 0.00001
NM_213599.3(ANO5):c.763G>A (p.Gly255Ser) rs778212736 0.00001
NM_213599.3(ANO5):c.820C>T (p.His274Tyr) rs758954110 0.00001
NM_213599.3(ANO5):c.836G>A (p.Arg279Gln) rs201329725 0.00001
NM_213599.3(ANO5):c.87+3A>G rs1387282754 0.00001
NM_213599.3(ANO5):c.87G>A (p.Glu29=) rs1554919178 0.00001
NM_213599.3(ANO5):c.88C>G (p.Gln30Glu) rs747575706 0.00001
NM_213599.3(ANO5):c.904A>G (p.Ile302Val) rs750762553 0.00001
NM_213599.3(ANO5):c.989T>C (p.Leu330Ser) rs373814281 0.00001
NM_213599.3(ANO5):c.996G>A (p.Met332Ile) rs377619934 0.00001
NR_003051.3(RMRP):n.-16G>A rs780414839 0.00001
NR_003051.3(RMRP):n.-2_6dup8 rs1169511671 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.3(RMRP):n.-71C>T rs1823657206 0.00001
NR_003051.3(RMRP):n.-7delA rs911564838 0.00001
NR_003051.4(RMRP):n.102A>G rs983337094 0.00001
NR_003051.4(RMRP):n.115_116insA rs769131655 0.00001
NR_003051.4(RMRP):n.122_124dup rs1240755048 0.00001
NR_003051.4(RMRP):n.127C>T rs1303461251 0.00001
NR_003051.4(RMRP):n.130C>T rs1335579840 0.00001
NR_003051.4(RMRP):n.136A>G rs765138079 0.00001
NR_003051.4(RMRP):n.167T>G rs1160309777 0.00001
NR_003051.4(RMRP):n.171C>T rs1020582110 0.00001
NR_003051.4(RMRP):n.189T>C rs1227147763 0.00001
NR_003051.4(RMRP):n.196T>C rs1343590034 0.00001
NR_003051.4(RMRP):n.202C>T rs1245933575 0.00001
NR_003051.4(RMRP):n.20G>C rs910861550 0.00001
NR_003051.4(RMRP):n.212A>G rs1243849504 0.00001
NR_003051.4(RMRP):n.227G>C rs1472791197 0.00001
NR_003051.4(RMRP):n.234C>T rs1193906088 0.00001
NR_003051.4(RMRP):n.235A>G rs1371155716 0.00001
NR_003051.4(RMRP):n.236C>T rs1002409010 0.00001
NR_003051.4(RMRP):n.245C>G rs1260135124 0.00001
NR_003051.4(RMRP):n.247G>A rs1345047056 0.00001
NR_003051.4(RMRP):n.25C>T rs1345823900 0.00001
NR_003051.4(RMRP):n.29G>A rs748623920 0.00001
NR_003051.4(RMRP):n.44C>T rs981913573 0.00001
NR_003051.4(RMRP):n.46C>T rs1394104178 0.00001
NR_003051.4(RMRP):n.48G>A rs553530605 0.00001
NR_003051.4(RMRP):n.69G>A rs1245480029 0.00001
NR_003051.4(RMRP):n.71_72delGA rs1491544612 0.00001
NR_003051.4(RMRP):n.7G>A rs552002151 0.00001
NR_003051.4(RMRP):n.84C>T rs1372572486 0.00001
NR_003051.4(RMRP):n.85C>T rs1282617590 0.00001
NR_003051.4(RMRP):n.86T>G rs991322091 0.00001
NR_003051.4(RMRP):n.94A>C rs928762713 0.00001
NR_003051.4(RMRP):n.97G>A rs970510851 0.00001
46;XY;t(1;14)(q42;q13)
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3
GRCh38/hg38 12p12.3(chr12:15466904-15470698)
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.10:g.(?_1167659)_(1168648_?)dup
NC_000001.10:g.(?_145414782)_(145610584_?)dup
NC_000001.10:g.(?_2160186)_(2238224_?)dup
NC_000001.10:g.(?_2234397)_(2238204_?)dup
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.10:g.(?_948954)_(1284445_?)dup
NC_000001.10:g.(?_955543)_(2957600_?)del
NC_000001.11:g.(?_1013554)_(1313808_?)del
NC_000001.11:g.12617576_12621500del
NC_000001.11:g.63129955_63141504dup
NC_000001.11:g.63395673_63749318del
NC_000002.11:g.(?_163123710)_(163174817_?)del
NC_000002.11:g.(?_163123710)_(163174817_?)dup
NC_000002.11:g.(?_163128716)_(163134858_?)del
NC_000002.11:g.(?_163128856)_(163131721_?)del
NC_000002.11:g.(?_163163199)_(163163385_?)del
NC_000002.11:g.(?_217279428)_(217347700_?)dup
NC_000002.11:g.(?_231033840)_(234978657_?)dup
NC_000002.11:g.(?_232597662)_(232597763_?)del
NC_000002.11:g.(?_232597662)_(232597763_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_58386900)_(58390229_?)dup
NC_000002.11:g.(?_58386900)_(58393029_?)dup
NC_000002.11:g.(?_58386900)_(58468448_?)dup
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000002.12:g.(?_216416237)_(216416327_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)dup
NC_000003.11:g.(?_10084233)_(10085558_?)dup
NC_000003.11:g.(?_10127486)_(10140634_?)dup
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NC_000003.11:g.(?_10138000)_(10140634_?)del
NC_000003.11:g.(?_129150344)_(129159234_?)dup
NC_000003.11:g.(?_129150344)_(129252561_?)dup
NC_000003.11:g.(?_33183867)_(33183940_?)del
NC_000003.11:g.(?_69058768)_(69058997_?)dup
NC_000003.12:g.(?_10028648)_(10043874_?)dup
NC_000003.12:g.(?_10090282)_(10098950_?)dup
NC_000004.11:g.(?_55124936)_(57368027_?)del
NC_000004.11:g.(?_55124936)_(57798318_?)dup
NC_000004.11:g.(?_5720955)_(5721120_?)del
NC_000004.11:g.(?_96069879)_(96075824_?)dup
NC_000005.9:g.(?_37002744)_(37046321_?)dup
NC_000006.11:g.(?_35420323)_(35424150_?)dup
NC_000006.11:g.(?_35420323)_(35434122_?)dup
NC_000006.11:g.(?_35428309)_(35434122_?)dup
NC_000006.11:g.(?_35430556)_(35434122_?)del
NC_000007.13:g.(?_2559496)_(2587132_?)dup
NC_000007.13:g.(?_94024344)_(94059705_?)dup
NC_000007.13:g.(?_94027674)_(94027728_?)del
NC_000007.13:g.(?_94040181)_(94059705_?)dup
NC_000007.14:g.(?_94395022)_(94585525_?)dup
NC_000008.10:g.(?_117574515)_(117878968_?)dup
NC_000008.10:g.(?_117859739)_(117866727_?)dup
NC_000008.10:g.(?_145729802)_(145737046_?)del
NC_000008.10:g.(?_145736804)_(145738531_?)dup
NC_000008.10:g.(?_145736804)_(145743178_?)dup
NC_000008.10:g.(?_145736809)_(145739102_?)dup
NC_000008.10:g.(?_145736809)_(145743174_?)dup
NC_000008.10:g.(?_145736814)_(145739106_?)dup
NC_000008.10:g.(?_145736814)_(145742902_?)dup
NC_000008.10:g.(?_145736814)_(145743168_?)dup
NC_000008.10:g.(?_145737517)_(145743168_?)dup
NC_000008.10:g.(?_145742424)_(145743168_?)dup
NC_000008.10:g.(?_145742976)_(145743168_?)dup
NC_000008.10:g.(?_145742976)_(145743178_?)dup
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000009.11:g.(?_137534034)_(139440238_?)dup
NC_000009.11:g.(?_138683633)_(139440248_?)dup
NC_000009.11:g.(?_139390503)_(139438574_?)dup
NC_000009.11:g.(?_139390513)_(139440248_?)dup
NC_000009.11:g.(?_139390523)_(139438574_?)dup
NC_000009.11:g.(?_139438456)_(139440238_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34370797)_(36276941_?)dup
NC_000009.11:g.(?_34645556)_(36277059_?)dup
NC_000009.11:g.(?_35072710)_(35079521_?)dup
NC_000009.11:g.(?_97863983)_(98270649_?)dup
NC_000009.11:g.(?_97863989)_(98079991_?)dup
NC_000009.11:g.(?_98002921)_(98079991_?)dup
NC_000009.11:g.(?_98079798)_(98279100_?)del
NC_000009.12:g.(?_136496051)_(136523999_?)del
NC_000009.12:g.(?_95107056)_(95107279_?)del
NC_000009.12:g.35657652G>T
NC_000009.12:g.35657657C>G
NC_000009.12:g.35657669A>G
NC_000009.12:g.35657675T>C
NC_000009.12:g.35657678G>T
NC_000009.12:g.35657679_35657698del rs2131807553
NC_000009.12:g.35657680G>A
NC_000009.12:g.35657681C>T
NC_000009.12:g.35657688T>C rs2131807579
NC_000009.12:g.35657699G>C
NC_000009.12:g.35657706C>G rs2131807621
NC_000009.12:g.35657707G>A
NC_000009.12:g.35657707G>C
NC_000009.12:g.35657712G>A
NC_000009.12:g.35657718G>A
NC_000009.12:g.35657720C>T
NC_000009.12:g.35657725G>T
NC_000009.12:g.35657731C>G
NC_000009.12:g.35657737C>T rs1166044496
NC_000009.12:g.35657739C>A
NC_000009.12:g.35657742G>A
NC_000009.12:g.35657746A>T rs749839597
NC_000009.12:g.35657747A>G
NC_000009.12:g.35657748_35657749insG
NC_000009.12:g.35657750A>C rs555390900
NC_000009.12:g.35657750A>G
NC_000009.12:g.35657751_35657753del
NC_000009.12:g.35657751dup
NC_000009.12:g.35658019A>T
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGCCACGT rs1554651364
NC_000009.12:g.35658025T>G
NC_000009.12:g.35658026C>G
NC_000009.12:g.35658026_35658030dup rs1823638139
NC_000009.12:g.35658029C>G
NC_000009.12:g.35658032CA[3]
NC_000009.12:g.35658033A>C
NC_000009.12:g.35658035A>G rs1266656422
NC_000009.12:g.35658036G>T
NC_000009.12:g.35658037A>G rs1410018354
NC_000009.12:g.35658037dup rs1823648518
NC_000009.12:g.35658038_35658039delinsCG
NC_000009.12:g.35658038_35658042dup
NC_000009.12:g.35658039T>A rs563106486
NC_000009.12:g.35658039T>C rs563106486
NC_000009.12:g.35658039_35658059del
NC_000009.12:g.35658040_35658043del
NC_000009.12:g.35658041G>A
NC_000009.12:g.35658043A>G
NC_000009.12:g.35658045T>C
NC_000009.12:g.35658046T>C rs2131810512
NC_000009.12:g.35658048del
NC_000009.12:g.35658049T>G
NC_000009.12:g.35658052C>T
NC_000009.12:g.35658055T>C
NC_000009.12:g.35658058A>G
NC_000009.12:g.35658059G>A
NC_000009.12:g.35658059G>T
NC_000009.12:g.35658063T>C
NC_000009.12:g.35658065G>C
NC_000009.12:g.35658065GT[1]
NC_000009.12:g.35658065_35658066delinsTC rs1823654028
NC_000009.12:g.35658067G>A
NC_000009.12:g.35658072A>C
NC_000009.12:g.35658072A>G rs181777676
NC_000009.12:g.35658072_35658073delinsCC rs1823655299
NC_000009.12:g.35658073T>G
NC_000009.12:g.35658073_35658074delinsCC rs2131810831
NC_000009.12:g.35658074G>A
NC_000009.12:g.35658074_35658075delinsAG
NC_000009.12:g.35658074_35658076del rs1823655436
NC_000009.12:g.35658076T>C
NC_000009.12:g.35658076T>G rs545125827
NC_000009.12:g.35658076_35658084del
NC_000009.12:g.35658092G>A rs536842279
NC_000009.12:g.35658094T>C
NC_000009.12:g.35658097C>A rs1421770576
NC_000009.12:g.35658102G>A rs1437731699
NC_000009.12:g.35658102G>C
NC_000009.12:g.35658105T>A rs2131811086
NC_000009.12:g.35658105del rs777581273
NC_000009.12:g.35658108A>G rs1206526864
NC_000009.12:g.35658112A>G
NC_000009.12:g.35658112del
NC_000009.12:g.35658116T>C
NC_000010.10:g.(?_111860412)_(112839579_?)dup
NC_000010.10:g.(?_75671314)_(79799964_?)dup
NC_000010.10:g.(?_76780320)_(76790804_?)dup
NC_000010.10:g.(?_97440209)_(97440386_?)del
NC_000010.10:g.(?_97442388)_(97516032_?)dup
NC_000011.10:g.(?_22193483)_(22227596_?)dup
NC_000011.10:g.(?_22239559)_(22279775_?)dup
NC_000011.10:g.65553887_65553904dup
NC_000011.9:g.(?_22215039)_(22249152_?)dup
NC_000011.9:g.(?_22215039)_(22272577_?)dup
NC_000011.9:g.(?_22261105)_(22277078_?)del
NC_000011.9:g.(?_22297620)_(22301311_?)dup
NC_000011.9:g.(?_22297630)_(22301321_?)dup
NC_000011.9:g.(?_22297640)_(22304913_?)dup
NC_000011.9:g.(?_22644079)_(22647387_?)dup
NC_000011.9:g.(?_22646226)_(22647362_?)dup
NC_000011.9:g.(?_22646232)_(22647356_?)dup
NC_000011.9:g.(?_65303404)_(65311040_?)dup
NC_000011.9:g.(?_65306531)_(65325450_?)dup
NC_000011.9:g.(?_65306779)_(65307119_?)dup
NC_000014.8:g.(?_45605225)_(45609922_?)dup
NC_000014.8:g.(?_45605235)_(45669211_?)dup
NC_000014.8:g.(?_45618030)_(45618208_?)del
NC_000014.8:g.(?_45618030)_(45633778_?)del
NC_000014.8:g.(?_45630372)_(45633544_?)del
NC_000014.8:g.(?_45654410)_(45657100_?)del
NC_000014.8:g.(?_90429459)_(94856914_?)dup
NC_000014.8:g.(?_92505871)_(92506029_?)dup
NC_000014.9:g.(?_45164349)_(45164575_?)del
NC_000015.10:g.(?_89290203)_(89291724_?)del
NC_000015.9:g.(?_89790879)_(89825086_?)dup
NC_000015.9:g.(?_89790879)_(89859690_?)dup
NC_000015.9:g.(?_89801915)_(89828469_?)del
NC_000015.9:g.(?_89811610)_(89817555_?)del
NC_000015.9:g.(?_89828307)_(89828469_?)del
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del
NC_000016.10:g.(89771815_89773270)_(89816657_?)del
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
NC_000016.10:g.(?_89738601)_(89816616_?)dup
NC_000016.10:g.(?_89795896)_(89805402_?)del
NC_000016.10:g.(?_89814510)_(89816616_?)dup
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del
NC_000016.9:g.(?_13915808)_(14724045_?)dup
NC_000016.9:g.(?_14031613)_(14031725_?)del
NC_000016.9:g.(?_15758636)_(17564653_?)dup
NC_000016.9:g.(?_17202552)_(17451927_?)dup
NC_000016.9:g.(?_17451859)_(17451917_?)del
NC_000016.9:g.(?_3293141)_(5971108_?)dup
NC_000016.9:g.(?_3632337)_(3658971_?)dup
NC_000016.9:g.(?_3638993)_(3658965_?)dup
NC_000016.9:g.(?_3860584)_(3860800_?)del
NC_000016.9:g.(?_3929813)_(4387545_?)dup
NC_000016.9:g.(?_89556653)_(89851392_?)dup
NC_000016.9:g.(?_89611036)_(90106937_?)dup
NC_000016.9:g.(?_89805009)_(89809366_?)dup
NC_000016.9:g.(?_89805009)_(89813308_?)dup
NC_000016.9:g.(?_89805009)_(89831484_?)dup
NC_000016.9:g.(?_89805009)_(89858965_?)dup
NC_000016.9:g.(?_89805009)_(89866066_?)dup
NC_000016.9:g.(?_89805270)_(89806527_?)dup
NC_000016.9:g.(?_89805270)_(89807294_?)dup
NC_000016.9:g.(?_89824965)_(89883023_?)dup
NC_000016.9:g.(?_89842130)_(89883023_?)dup
NC_000016.9:g.(?_89869657)_(89881031_?)dup
NC_000016.9:g.(?_89880928)_(89883065_?)dup
NC_000016.9:g.(?_89882935)_(89883024_?)dup
NC_000016.9:g.89645037_89810099del
NC_000017.10:g.(?_48262843)_(48277749_?)dup
NC_000017.10:g.(?_48262863)_(48278874_?)dup
NC_000017.10:g.(?_48264825)_(48278874_?)dup
NC_000017.10:g.(?_48264825)_(48278894_?)dup
NC_000017.10:g.(?_48264825)_(48280990_?)dup
NC_000017.10:g.(?_48265217)_(48278874_?)dup
NC_000017.10:g.(?_56432304)_(56811583_?)dup
NC_000017.10:g.(?_56769986)_(56801482_?)dup
NC_000017.10:g.(?_56769995)_(56801471_?)dup
NC_000017.10:g.(?_56769995)_(56811593_?)dup
NC_000017.10:g.(?_56769999)_(56774226_?)dup
NC_000017.10:g.(?_56769999)_(56801467_?)dup
NC_000017.10:g.(?_56769999)_(56811589_?)dup
NC_000017.10:g.(?_56772286)_(56774226_?)dup
NC_000017.10:g.(?_56780547)_(56811583_?)dup
NC_000017.10:g.(?_56787210)_(56787361_?)dup
NC_000017.10:g.(?_56787214)_(56787357_?)dup
NC_000017.10:g.(?_59760647)_(59761511_?)dup
NC_000017.10:g.(?_59760647)_(59938910_?)dup
NC_000017.10:g.(?_59760651)_(59938906_?)dup
NC_000017.10:g.(?_59760657)_(59763536_?)dup
NC_000017.10:g.(?_59760657)_(59886138_?)dup
NC_000017.10:g.(?_59760657)_(59938900_?)dup
NC_000017.10:g.(?_59820364)_(59886128_?)dup
NC_000017.10:g.(?_59820374)_(59886118_?)dup
NC_000017.10:g.(?_59853752)_(59853933_?)del
NC_000017.10:g.(?_59853752)_(59938900_?)dup
NC_000017.10:g.(?_59853752)_(59938910_?)dup
NC_000017.10:g.(?_59853756)_(59938906_?)dup
NC_000017.10:g.(?_59857612)_(59857772_?)del
NC_000017.10:g.(?_59861621)_(59938900_?)dup
NC_000017.10:g.(?_59861625)_(59938906_?)dup
NC_000017.10:g.(?_59870952)_(59876666_?)del
NC_000017.10:g.(?_59870952)_(59886124_?)dup
NC_000017.10:g.(?_59885818)_(59938900_?)dup
NC_000017.10:g.(?_59885822)_(59938906_?)dup
NC_000017.10:g.(?_59924452)_(59938900_?)dup
NC_000017.10:g.(?_59924456)_(59938906_?)dup
NC_000017.10:g.(?_59937147)_(59938900_?)dup
NC_000017.10:g.(?_59938798)_(59938900_?)dup
NC_000017.11:g.(?_50190233)_(50190390_?)dup
NC_000017.11:g.(?_58692625)_(58696869_?)dup
NC_000017.11:g.(?_58692625)_(58710000_?)dup
NC_000017.11:g.(?_58692634)_(58692798_?)dup
NC_000017.11:g.(?_58692634)_(58710000_?)dup
NC_000017.11:g.(?_58709849)_(58734232_?)dup
NC_000017.11:g.(?_58720736)_(58734232_?)dup
NC_000017.11:g.(?_61683286)_(61808767_?)dup
NC_000017.11:g.(?_61683296)_(61684150_?)dup
NC_000017.11:g.(?_61683296)_(61693522_?)dup
NC_000017.11:g.(?_61685826)_(61686175_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)dup
NC_000017.11:g.(?_61743003)_(61781015_?)dup
NC_000017.11:g.(?_61776391)_(61784434_?)del
NC_000017.11:g.(?_61780251)_(61784434_?)del
NC_000017.11:g.(?_61780255)_(61784430_?)del
NC_000017.11:g.(?_61793587)_(61799309_?)del
NC_000017.11:g.(?_61799090)_(61861539_?)dup
NC_000017.11:g.(?_61847091)_(61861549_?)dup
NC_000017.11:g.(?_61857048)_(61857241_?)del
NC_000017.11:g.(?_61861437)_(61861549_?)dup
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NC_000023.10:g.(?_14861689)_(14877476_?)dup
NC_000023.10:g.(?_14861689)_(15870650_?)dup
NC_000023.10:g.(?_53276131)_(53449569_?)dup
NC_000023.10:g.(?_53349595)_(53410194_?)dup
NC_000023.10:g.(?_53349605)_(53410184_?)dup
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NC_000023.10:g.(?_53421678)_(53449569_?)dup
NC_000023.10:g.(?_53421698)_(53421808_?)del
NC_000023.10:g.(?_53423127)_(53572142_?)dup
NC_000023.11:g.(?_14843557)_(14873062_?)dup
NC_000023.11:g.820337_843143del
NM_000059.3(BRCA2):c.-210A>G rs886050111
NM_000059.3(BRCA2):c.-220G>T rs1036870835
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.4(BRCA2):c.*292A>C rs886050112
NM_000059.4(BRCA2):c.*360dup rs886050114
NM_000059.4(BRCA2):c.*399T>C rs886050115
NM_000059.4(BRCA2):c.*416G>T rs886050116
NM_000059.4(BRCA2):c.*675C>A rs886050117
NM_000059.4(BRCA2):c.*696G>A rs886050118
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg) rs587782016
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn) rs431825280
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile) rs1593892275
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly) rs768169574
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) rs398122725
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser) rs1249900164
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu) rs2072286770
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu) rs1555282154
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu) rs397507282
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.2249A>T (p.Asp750Val) rs1555282574
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg) rs80358512
NM_000059.4(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys) rs864622476
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu) rs80358523
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser) rs80358526
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val) rs1566227648
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile) rs431825304
NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln) rs747903103
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile) rs876660471
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp) rs762886975
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr) rs80358625
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr) rs1403318277
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile) rs1555283763
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg) rs397507336
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr) rs863224590
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu) rs770664957
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn) rs80358781
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=) rs1401654517
NM_000059.4(BRCA2):c.561G>A (p.Glu187=) rs754678843
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile) rs80358818
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro) rs55877890
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.4(BRCA2):c.632-3C>T rs568027879
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr) rs1060502462
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr) rs398122563
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr) rs80358907
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.4(BRCA2):c.7034A>G (p.Gln2345Arg) rs876661187
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile) rs1555286026
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser) rs80358969
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.4(BRCA2):c.844C>G (p.His282Asp) rs768605944
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
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.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr) rs587781493
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe) rs80359195
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp) rs1555289516
NM_000059.4(BRCA2):c.942A>G (p.Lys314=) rs1384322636
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu) rs2073050616
NM_000088.4(COL1A1):c.*1007_*1008del rs886053144
NM_000088.4(COL1A1):c.*1026TG[1] rs878983048
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1027del rs878912123
NM_000088.4(COL1A1):c.*1029_*1031del rs886053143
NM_000088.4(COL1A1):c.*1030_*1031del rs886053142
NM_000088.4(COL1A1):c.*1045del rs886053141
NM_000088.4(COL1A1):c.*1316C>G rs967567610
NM_000088.4(COL1A1):c.*1324A>G rs886053140
NM_000088.4(COL1A1):c.*215del rs886053157
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*245_*246dup rs886053155
NM_000088.4(COL1A1):c.*245del rs886053156
NM_000088.4(COL1A1):c.*255dup rs886053153
NM_000088.4(COL1A1):c.*257_*258dup rs886053152
NM_000088.4(COL1A1):c.*258dup rs886053152
NM_000088.4(COL1A1):c.*259_*260insAT rs886053151
NM_000088.4(COL1A1):c.*356T>A rs1906365029
NM_000088.4(COL1A1):c.*437A>C rs886053150
NM_000088.4(COL1A1):c.*623G>A rs886053149
NM_000088.4(COL1A1):c.*73C>A rs1906402899
NM_000088.4(COL1A1):c.*815A>G rs886053146
NM_000088.4(COL1A1):c.*998_*999del rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA rs886053163
NM_000088.4(COL1A1):c.-98G>C rs574683904
NM_000088.4(COL1A1):c.1000C>T (p.Pro334Ser) rs1156650562
NM_000088.4(COL1A1):c.103+16T>C rs548069648
NM_000088.4(COL1A1):c.103+3_103+8del
NM_000088.4(COL1A1):c.104-284C>T rs2144595908
NM_000088.4(COL1A1):c.1057-3C>G rs1555574180
NM_000088.4(COL1A1):c.1082G>A (p.Arg361Gln)
NM_000088.4(COL1A1):c.1082_1099dup (p.Arg361_Pro366dup) rs2144577608
NM_000088.4(COL1A1):c.1092A>C (p.Glu364Asp) rs1907515907
NM_000088.4(COL1A1):c.1107_1108delinsAG (p.Arg370Gly) rs1907513580
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys)
NM_000088.4(COL1A1):c.1109G>T (p.Arg370Leu)
NM_000088.4(COL1A1):c.110C>G (p.Pro37Arg) rs2144594835
NM_000088.4(COL1A1):c.1115A>G (p.Glu372Gly)
NM_000088.4(COL1A1):c.1145C>T (p.Ala382Val)
NM_000088.4(COL1A1):c.1199A>G (p.Asn400Ser)
NM_000088.4(COL1A1):c.1200+3A>G
NM_000088.4(COL1A1):c.1200+5G>C
NM_000088.4(COL1A1):c.1205C>T (p.Ala402Val)
NM_000088.4(COL1A1):c.1215T>G (p.Ile405Met)
NM_000088.4(COL1A1):c.121G>A (p.Val41Ile) rs2144594757
NM_000088.4(COL1A1):c.121G>T (p.Val41Leu) rs2144594757
NM_000088.4(COL1A1):c.1225C>G (p.Pro409Ala)
NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala) rs72648325
NM_000088.4(COL1A1):c.1240G>T (p.Ala414Ser) rs2144575819
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1259C>T (p.Pro420Leu)
NM_000088.4(COL1A1):c.1289A>T (p.Lys430Met)
NM_000088.4(COL1A1):c.1290G>A (p.Lys430=)
NM_000088.4(COL1A1):c.1296C>G (p.Asn432Lys) rs2144575369
NM_000088.4(COL1A1):c.1348G>C (p.Glu450Gln) rs896085870
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala) rs1907454557
NM_000088.4(COL1A1):c.1353T>C (p.Pro451=)
NM_000088.4(COL1A1):c.1354-13C>A rs372034810
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1378C>T (p.Pro460Ser) rs945417737
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr) rs1555573895
NM_000088.4(COL1A1):c.1406G>A (p.Arg469Gln)
NM_000088.4(COL1A1):c.1424C>A (p.Pro475His)
NM_000088.4(COL1A1):c.1430C>A (p.Pro477His)
NM_000088.4(COL1A1):c.1430C>G (p.Pro477Arg)
NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val)
NM_000088.4(COL1A1):c.143A>T (p.His48Leu)
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.4(COL1A1):c.1460G>A (p.Arg487His) rs2144572836
NM_000088.4(COL1A1):c.1461+2dup
NM_000088.4(COL1A1):c.1461+5G>A
NM_000088.4(COL1A1):c.1462-3C>A rs2144572314
NM_000088.4(COL1A1):c.1478G>A (p.Arg493His)
NM_000088.4(COL1A1):c.1487C>T (p.Pro496Leu)
NM_000088.4(COL1A1):c.1511C>T (p.Pro504Leu)
NM_000088.4(COL1A1):c.1516-5A>G
NM_000088.4(COL1A1):c.1531C>T (p.Arg511Cys) rs1478682303
NM_000088.4(COL1A1):c.1532G>T (p.Arg511Leu)
NM_000088.4(COL1A1):c.1550C>G (p.Ala517Gly)
NM_000088.4(COL1A1):c.1550C>T (p.Ala517Val) rs1907378945
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) rs762086114
NM_000088.4(COL1A1):c.1556C>A (p.Pro519His)
NM_000088.4(COL1A1):c.1559A>G (p.Lys520Arg) rs2144571197
NM_000088.4(COL1A1):c.1567_1569del (p.Pro523del) rs1907377085
NM_000088.4(COL1A1):c.1582C>A (p.Arg528Ser)
NM_000088.4(COL1A1):c.1614G>C (p.Lys538Asn) rs770596593
NM_000088.4(COL1A1):c.1615-3T>C
NM_000088.4(COL1A1):c.1667C>T (p.Pro556Leu) rs778151591
NM_000088.4(COL1A1):c.1685A>G (p.Asp562Gly)
NM_000088.4(COL1A1):c.169C>T (p.Pro57Ser)
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=) rs1410003274
NM_000088.4(COL1A1):c.1736T>C (p.Val579Ala)
NM_000088.4(COL1A1):c.1740G>A (p.Met580Ile)
NM_000088.4(COL1A1):c.1748C>G (p.Pro583Arg) rs1401682206
NM_000088.4(COL1A1):c.1756A>G (p.Lys586Glu) rs1321629414
NM_000088.4(COL1A1):c.1767+3_1767+6del rs886042301
NM_000088.4(COL1A1):c.176G>C (p.Arg59Pro) rs2144594400
NM_000088.4(COL1A1):c.178A>C (p.Ile60Leu)
NM_000088.4(COL1A1):c.179TCTGCG[3] (p.Cys63_Asp64insValCys)
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala) rs868525869
NM_000088.4(COL1A1):c.1811C>T (p.Pro604Leu)
NM_000088.4(COL1A1):c.1821C>G (p.Val607=) rs41316667
NM_000088.4(COL1A1):c.1828G>T (p.Ala610Ser)
NM_000088.4(COL1A1):c.1897G>A (p.Glu633Lys) rs2144563826
NM_000088.4(COL1A1):c.1909G>C (p.Ala637Pro)
NM_000088.4(COL1A1):c.1910C>A (p.Ala637Asp)
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.1945G>A (p.Ala649Thr) rs2144563154
NM_000088.4(COL1A1):c.195C>A (p.Asn65Lys) rs1907930276
NM_000088.4(COL1A1):c.196G>A (p.Gly66Ser) rs1240249424
NM_000088.4(COL1A1):c.196G>T (p.Gly66Cys)
NM_000088.4(COL1A1):c.1983+2dup
NM_000088.4(COL1A1):c.1984-1G>T rs2144561474
NM_000088.4(COL1A1):c.1984-6C>G rs373873548
NM_000088.4(COL1A1):c.2018C>A (p.Ser673Tyr) rs1263860713
NM_000088.4(COL1A1):c.2028+3_2028+20del rs2144561189
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys)
NM_000088.4(COL1A1):c.2087C>T (p.Pro696Leu)
NM_000088.4(COL1A1):c.2107C>G (p.Pro703Ala) rs1339321096
NM_000088.4(COL1A1):c.2127+3G>A
NM_000088.4(COL1A1):c.2127G>A (p.Lys709=) rs2144559989
NM_000088.4(COL1A1):c.2128-15T>C
NM_000088.4(COL1A1):c.2140G>A (p.Ala714Thr)
NM_000088.4(COL1A1):c.2159G>A (p.Ser720Asn)
NM_000088.4(COL1A1):c.2159G>T (p.Ser720Ile)
NM_000088.4(COL1A1):c.2167G>T (p.Ala723Ser)
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2180A>G (p.Gln727Arg)
NM_000088.4(COL1A1):c.2185A>G (p.Met729Val)
NM_000088.4(COL1A1):c.2203G>T (p.Ala735Ser) rs1555573014
NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala) rs1282743605
NM_000088.4(COL1A1):c.2235+5G>T rs1907061034
NM_000088.4(COL1A1):c.2236-3T>C
NM_000088.4(COL1A1):c.2249C>G (p.Pro750Arg)
NM_000088.4(COL1A1):c.224G>T (p.Cys75Phe)
NM_000088.4(COL1A1):c.2258C>T (p.Ala753Val)
NM_000088.4(COL1A1):c.228C>G (p.Asp76Glu) rs1314366641
NM_000088.4(COL1A1):c.22C>G (p.Arg8Gly)
NM_000088.4(COL1A1):c.22C>T (p.Arg8Trp)
NM_000088.4(COL1A1):c.2305A>T (p.Ile769Phe) rs2144556397
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) rs1423591325
NM_000088.4(COL1A1):c.2321C>T (p.Pro774Leu)
NM_000088.4(COL1A1):c.2344-3C>A
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys) rs751890158
NM_000088.4(COL1A1):c.2396C>T (p.Pro799Leu)
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr) rs1215940390
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
NM_000088.4(COL1A1):c.2449C>A (p.Pro817Thr) rs769167761
NM_000088.4(COL1A1):c.2449C>T (p.Pro817Ser)
NM_000088.4(COL1A1):c.2451+6T>A
NM_000088.4(COL1A1):c.2468C>T (p.Pro823Leu)
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)
NM_000088.4(COL1A1):c.2491G>A (p.Asp831Asn)
NM_000088.4(COL1A1):c.2501C>T (p.Ala834Val)
NM_000088.4(COL1A1):c.2512G>T (p.Ala838Ser)
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2537C>T (p.Pro846Leu)
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser) rs369455732
NM_000088.4(COL1A1):c.254_255insGGC (p.Glu85_Val86insAla)
NM_000088.4(COL1A1):c.2558T>C (p.Ile853Thr) rs2144552753
NM_000088.4(COL1A1):c.2559+5G>A rs72653138
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=) rs764910205
NM_000088.4(COL1A1):c.2560-19_2560-18delinsTG
NM_000088.4(COL1A1):c.2560-5T>C rs2144552369
NM_000088.4(COL1A1):c.2573C>G (p.Ala858Gly) rs550053089
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu) rs926503489
NM_000088.4(COL1A1):c.2629C>T (p.Pro877Ser) rs2144551585
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=) rs1414204760
NM_000088.4(COL1A1):c.2667+5G>A
NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala)
NM_000088.4(COL1A1):c.2680C>T (p.Pro894Ser)
NM_000088.4(COL1A1):c.272G>A (p.Cys91Tyr)
NM_000088.4(COL1A1):c.2746G>C (p.Ala916Pro)
NM_000088.4(COL1A1):c.2773C>T (p.Pro925Ser) rs772929903
NM_000088.4(COL1A1):c.278C>G (p.Pro93Arg)
NM_000088.4(COL1A1):c.2797G>A (p.Glu933Lys) rs1906865517
NM_000088.4(COL1A1):c.2806T>C (p.Ser936Pro) rs1555572452
NM_000088.4(COL1A1):c.2810C>A (p.Pro937His) rs1555572447
NM_000088.4(COL1A1):c.2829+2dup rs2144549833
NM_000088.4(COL1A1):c.2845C>G (p.Pro949Ala)
NM_000088.4(COL1A1):c.2855A>G (p.Gln952Arg)
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)
NM_000088.4(COL1A1):c.290A>G (p.Asp97Gly) rs758351823
NM_000088.4(COL1A1):c.2917C>T (p.Pro973Ser)
NM_000088.4(COL1A1):c.2933C>T (p.Pro978Leu) rs2144548775
NM_000088.4(COL1A1):c.2953C>A (p.Gln985Lys)
NM_000088.4(COL1A1):c.2980C>T (p.Arg994Cys)
NM_000088.4(COL1A1):c.2989C>T (p.Pro997Ser)
NM_000088.4(COL1A1):c.299-23_299-2del rs2144592610
NM_000088.4(COL1A1):c.299-3T>G rs1598301620
NM_000088.4(COL1A1):c.299-4C>A
NM_000088.4(COL1A1):c.29T>C (p.Leu10Pro)
NM_000088.4(COL1A1):c.3003C>A (p.Gly1001=) rs747313038
NM_000088.4(COL1A1):c.3023C>G (p.Pro1008Arg) rs1484351533
NM_000088.4(COL1A1):c.3026C>T (p.Pro1009Leu)
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
NM_000088.4(COL1A1):c.3099+7T>G rs201682029
NM_000088.4(COL1A1):c.3100-10T>A rs1598288122
NM_000088.4(COL1A1):c.3100-6C>A
NM_000088.4(COL1A1):c.3107G>A (p.Arg1036His)
NM_000088.4(COL1A1):c.310G>A (p.Asp104Asn)
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3152C>T (p.Pro1051Leu) rs2144545694
NM_000088.4(COL1A1):c.3161C>T (p.Pro1054Leu)
NM_000088.4(COL1A1):c.3183C>T (p.Gly1061=) rs1598287862
NM_000088.4(COL1A1):c.319ACC[1] (p.Thr108del)
NM_000088.4(COL1A1):c.3207+3A>G rs1906755287
NM_000088.4(COL1A1):c.3207+4A>T rs2144545163
NM_000088.4(COL1A1):c.3223G>C (p.Ala1075Pro)
NM_000088.4(COL1A1):c.3223G>T (p.Ala1075Ser)
NM_000088.4(COL1A1):c.3233T>A (p.Val1078Asp)
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
NM_000088.4(COL1A1):c.3238_3246dup (p.Gly1082_Ala1083insProValGly)
NM_000088.4(COL1A1):c.3250C>T (p.Arg1084Cys)
NM_000088.4(COL1A1):c.3251G>T (p.Arg1084Leu)
NM_000088.4(COL1A1):c.3256C>T (p.Pro1086Ser)
NM_000088.4(COL1A1):c.325G>A (p.Gly109Ser) rs762315953
NM_000088.4(COL1A1):c.3261+2dup rs1598287275
NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=)
NM_000088.4(COL1A1):c.3269A>C (p.Gln1090Pro) rs1906705094
NM_000088.4(COL1A1):c.3275C>T (p.Pro1092Leu)
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys)
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.4(COL1A1):c.3319A>T (p.Ile1107Leu)
NM_000088.4(COL1A1):c.333+3A>C rs1555575205
NM_000088.4(COL1A1):c.3330C>A (p.His1110Gln)
NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys) rs2144542395
NM_000088.4(COL1A1):c.3332G>A (p.Arg1111His)
NM_000088.4(COL1A1):c.3365C>G (p.Pro1122Arg)
NM_000088.4(COL1A1):c.3369+4A>G rs2144542173
NM_000088.4(COL1A1):c.3369+4_3369+7del
NM_000088.4(COL1A1):c.3370-12_3370-11insAG
NM_000088.4(COL1A1):c.3419C>T (p.Pro1140Leu) rs2144540571
NM_000088.4(COL1A1):c.3424-6C>G rs370865189
NM_000088.4(COL1A1):c.3445G>T (p.Ala1149Ser)
NM_000088.4(COL1A1):c.3459T>G (p.Asp1153Glu) rs1800218
NM_000088.4(COL1A1):c.345A>T (p.Gly115=) rs1907874908
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly) rs1907874708
NM_000088.4(COL1A1):c.3481C>A (p.Pro1161Thr)
NM_000088.4(COL1A1):c.3490C>A (p.Pro1164Thr)
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)
NM_000088.4(COL1A1):c.3491C>T (p.Pro1164Leu)
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys) rs1373318649
NM_000088.4(COL1A1):c.3531+3A>T rs1906604888
NM_000088.4(COL1A1):c.3531+6T>C
NM_000088.4(COL1A1):c.3545C>A (p.Pro1182His)
NM_000088.4(COL1A1):c.3566C>A (p.Pro1189His) rs1555571859
NM_000088.4(COL1A1):c.3578G>A (p.Ser1193Asn) rs1567753025
NM_000088.4(COL1A1):c.35T>C (p.Leu12Pro) rs1555575857
NM_000088.4(COL1A1):c.3610C>A (p.Pro1204Thr) rs983970706
NM_000088.4(COL1A1):c.3640C>T (p.Arg1214Cys) rs2144537191
NM_000088.4(COL1A1):c.3649C>T (p.Arg1217Trp) rs763727068
NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro) rs762805085
NM_000088.4(COL1A1):c.3658G>A (p.Asp1220Asn)
NM_000088.4(COL1A1):c.3661G>A (p.Ala1221Thr)
NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)
NM_000088.4(COL1A1):c.3679C>T (p.Arg1227Cys)
NM_000088.4(COL1A1):c.367A>G (p.Arg123Gly) rs1907872277
NM_000088.4(COL1A1):c.3701C>T (p.Thr1234Ile)
NM_000088.4(COL1A1):c.3754C>A (p.Arg1252Ser) rs781614679
NM_000088.4(COL1A1):c.3755G>T (p.Arg1252Leu)
NM_000088.4(COL1A1):c.3766G>T (p.Ala1256Ser)
NM_000088.4(COL1A1):c.3770G>A (p.Arg1257His)
NM_000088.4(COL1A1):c.3798C>G (p.His1266Gln)
NM_000088.4(COL1A1):c.3802G>A (p.Asp1268Asn) rs1598285285
NM_000088.4(COL1A1):c.3812G>T (p.Ser1271Ile)
NM_000088.4(COL1A1):c.3815G>A (p.Gly1272Glu)
NM_000088.4(COL1A1):c.3832C>T (p.Pro1278Ser)
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000088.4(COL1A1):c.3878T>C (p.Met1293Thr)
NM_000088.4(COL1A1):c.3883A>T (p.Thr1295Ser)
NM_000088.4(COL1A1):c.3887G>T (p.Gly1296Val) rs1906529531
NM_000088.4(COL1A1):c.3895T>A (p.Cys1299Ser) rs1567752383
NM_000088.4(COL1A1):c.3898G>A (p.Val1300Met)
NM_000088.4(COL1A1):c.3917G>C (p.Ser1306Thr) rs754753032
NM_000088.4(COL1A1):c.3952C>G (p.Pro1318Ala)
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del) rs1451296434
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn) rs764729498
NM_000088.4(COL1A1):c.3965G>C (p.Arg1322Thr) rs138544681
NM_000088.4(COL1A1):c.3988A>G (p.Met1330Val)
NM_000088.4(COL1A1):c.4005+4C>T rs528349466
NM_000088.4(COL1A1):c.4006-9C>T rs193922156
NM_000088.4(COL1A1):c.4030G>C (p.Asp1344His) rs371547661
NM_000088.4(COL1A1):c.4046C>A (p.Ala1349Asp)
NM_000088.4(COL1A1):c.404C>G (p.Pro135Arg) rs2144591229
NM_000088.4(COL1A1):c.4050C>G (p.Ile1350Met)
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val) rs1906478020
NM_000088.4(COL1A1):c.4058C>T (p.Thr1353Ile)
NM_000088.4(COL1A1):c.4061T>G (p.Phe1354Cys)
NM_000088.4(COL1A1):c.4066C>A (p.Arg1356Ser) rs1341595487
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.4(COL1A1):c.4148A>G (p.Asn1383Ser) rs1555571631
NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr) rs1598284183
NM_000088.4(COL1A1):c.4177T>A (p.Ser1393Thr)
NM_000088.4(COL1A1):c.4178C>T (p.Ser1393Phe) rs774210351
NM_000088.4(COL1A1):c.4191G>T (p.Glu1397Asp)
NM_000088.4(COL1A1):c.419_420delinsCC (p.Leu140Pro) rs1555575068
NM_000088.4(COL1A1):c.4226G>T (p.Ser1409Ile) rs1906453973
NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.4(COL1A1):c.4241G>T (p.Gly1414Val)
NM_000088.4(COL1A1):c.4247C>T (p.Thr1416Met) rs1906450804
NM_000088.4(COL1A1):c.4248+3G>A
NM_000088.4(COL1A1):c.4248+6T>C
NM_000088.4(COL1A1):c.424G>A (p.Gly142Arg) rs1567764128
NM_000088.4(COL1A1):c.4253A>G (p.His1418Arg)
NM_000088.4(COL1A1):c.4285T>C (p.Tyr1429His)
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000088.4(COL1A1):c.4317C>G (p.Ile1439Met)
NM_000088.4(COL1A1):c.4320C>G (p.Ile1440Met) rs770326881
NM_000088.4(COL1A1):c.4323T>A (p.Asp1441Glu)
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.4(COL1A1):c.432_458del (p.143PPG[1]) rs2144590892
NM_000088.4(COL1A1):c.4334T>C (p.Leu1445Ser)
NM_000088.4(COL1A1):c.433G>A (p.Gly145Arg) rs1907850821
NM_000088.4(COL1A1):c.4340T>G (p.Val1447Gly) rs972891143
NM_000088.4(COL1A1):c.4356_4359dup (p.Phe1454fs)
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)
NM_000088.4(COL1A1):c.4367T>G (p.Phe1456Cys)
NM_000088.4(COL1A1):c.4368C>G (p.Phe1456Leu) rs765224053
NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His)
NM_000088.4(COL1A1):c.436C>G (p.Pro146Ala) rs756846639
NM_000088.4(COL1A1):c.439C>T (p.Pro147Ser)
NM_000088.4(COL1A1):c.441_458del (p.143PPG[2]) rs1315804923
NM_000088.4(COL1A1):c.441_458dup (p.Gly154_Leu155insProProGlyProProGly)
NM_000088.4(COL1A1):c.447TCCCGGACC[3] (p.143PPG[6]) rs1333144999
NM_000088.4(COL1A1):c.447_455del (p.143PPG[3])
NM_000088.4(COL1A1):c.451G>A (p.Gly151Arg)
NM_000088.4(COL1A1):c.454C>A (p.Pro152Thr) rs1221734311
NM_000088.4(COL1A1):c.457C>T (p.Pro153Ser)
NM_000088.4(COL1A1):c.466G>A (p.Gly156Arg)
NM_000088.4(COL1A1):c.488T>C (p.Leu163Pro)
NM_000088.4(COL1A1):c.504T>A (p.Asp168Glu)
NM_000088.4(COL1A1):c.517G>A (p.Gly173Arg)
NM_000088.4(COL1A1):c.521G>A (p.Gly174Glu)
NM_000088.4(COL1A1):c.530T>C (p.Val177Ala)
NM_000088.4(COL1A1):c.543+15G>A
NM_000088.4(COL1A1):c.543+4A>G rs1555574855
NM_000088.4(COL1A1):c.543+5G>C rs1907787005
NM_000088.4(COL1A1):c.551C>T (p.Ser184Phe)
NM_000088.4(COL1A1):c.557C>T (p.Pro186Leu) rs1555574809
NM_000088.4(COL1A1):c.577C>G (p.Pro193Ala) rs2144587738
NM_000088.4(COL1A1):c.588+1G>A rs72667025
NM_000088.4(COL1A1):c.588+5G>C
NM_000088.4(COL1A1):c.588+7A>T
NM_000088.4(COL1A1):c.650T>C (p.Met217Thr) rs2144586081
NM_000088.4(COL1A1):c.656C>G (p.Pro219Arg)
NM_000088.4(COL1A1):c.668C>G (p.Pro223Arg) rs2144585941
NM_000088.4(COL1A1):c.694G>C (p.Asp232His)
NM_000088.4(COL1A1):c.696+3A>G
NM_000088.4(COL1A1):c.696+5G>A
NM_000088.4(COL1A1):c.696+5del
NM_000088.4(COL1A1):c.703G>A (p.Ala235Thr) rs1907674004
NM_000088.4(COL1A1):c.721C>T (p.Pro241Ser)
NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys)
NM_000088.4(COL1A1):c.731G>A (p.Arg244His)
NM_000088.4(COL1A1):c.73G>A (p.Glu25Lys)
NM_000088.4(COL1A1):c.746C>A (p.Pro249His)
NM_000088.4(COL1A1):c.750+3G>A
NM_000088.4(COL1A1):c.750+4A>G
NM_000088.4(COL1A1):c.751-3C>T
NM_000088.4(COL1A1):c.758G>A (p.Arg253Gln) rs1191323992
NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser)
NM_000088.4(COL1A1):c.76G>A (p.Gly26Ser) rs2144600278
NM_000088.4(COL1A1):c.78C>T (p.Gly26=) rs2144600259
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.804+3G>A
NM_000088.4(COL1A1):c.804+3G>T
NM_000088.4(COL1A1):c.853C>G (p.Pro285Ala) rs1567761937
NM_000088.4(COL1A1):c.858+4A>G
NM_000088.4(COL1A1):c.874C>T (p.Pro292Ser) rs139840296
NM_000088.4(COL1A1):c.889G>A (p.Ala297Thr)
NM_000088.4(COL1A1):c.900G>T (p.Gln300His)
NM_000088.4(COL1A1):c.904-10T>A
NM_000088.4(COL1A1):c.952C>T (p.Pro318Ser) rs1273349782
NM_000088.4(COL1A1):c.953C>G (p.Pro318Arg)
NM_000088.4(COL1A1):c.957+15C>T rs779096006
NM_000088.4(COL1A1):c.974A>G (p.Asp325Gly) rs2144579945
NM_000088.4(COL1A1):c.992C>A (p.Ala331Asp) rs762653813
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813
NM_000088.4(COL1A1):c.9C>G (p.Ser3Arg)
NM_000089.3(COL1A2):c.-150G>C rs1584310114
NM_000089.3(COL1A2):c.-152G>A rs769123288
NM_000089.3(COL1A2):c.-194C>T rs1180929889
NM_000089.3(COL1A2):c.-204T>G rs908653050
NM_000089.3(COL1A2):c.-264C>A rs182924222
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-397A>T rs1791544304
NM_000089.3(COL1A2):c.-418G>A rs939882798
NM_000089.4(COL1A2):c.*329A>G rs1235561698
NM_000089.4(COL1A2):c.*469A>G rs1792387263
NM_000089.4(COL1A2):c.*561T>C rs1792389230
NM_000089.4(COL1A2):c.*618T>C rs557107553
NM_000089.4(COL1A2):c.*638C>T rs1792391514
NM_000089.4(COL1A2):c.-87C>T rs886062513
NM_000089.4(COL1A2):c.1035+4A>T
NM_000089.4(COL1A2):c.1036-14G>T rs114322680
NM_000089.4(COL1A2):c.1041G>T (p.Glu347Asp)
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp) rs1057518430
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=) rs748961276
NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)
NM_000089.4(COL1A2):c.114A>G (p.Arg38=) rs1462108134
NM_000089.4(COL1A2):c.1163G>A (p.Gly388Glu)
NM_000089.4(COL1A2):c.1178C>A (p.Pro393Gln)
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)
NM_000089.4(COL1A2):c.1228G>T (p.Ala410Ser) rs1235071648
NM_000089.4(COL1A2):c.1240G>A (p.Ala414Thr)
NM_000089.4(COL1A2):c.1244G>T (p.Gly415Val) rs1584320246
NM_000089.4(COL1A2):c.1251+5G>C
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile) rs376629202
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=) rs779173151
NM_000089.4(COL1A2):c.133-3C>A rs1562897561
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys) rs1446399667
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr) rs2115902728
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr) rs562290953
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln) rs1562902082
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
NM_000089.4(COL1A2):c.1418T>C (p.Ile473Thr)
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
NM_000089.4(COL1A2):c.1422C>G (p.Asp474Glu)
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu) rs778238943
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)
NM_000089.4(COL1A2):c.1444C>A (p.Pro482Thr)
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr) rs2115904550
NM_000089.4(COL1A2):c.145C>A (p.Pro49Thr)
NM_000089.4(COL1A2):c.146C>A (p.Pro49His)
NM_000089.4(COL1A2):c.1474A>T (p.Ile492Phe) rs776551401
NM_000089.4(COL1A2):c.1475T>C (p.Ile492Thr) rs761529493
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala) rs2115904764
NM_000089.4(COL1A2):c.149C>T (p.Pro50Leu) rs377637698
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)
NM_000089.4(COL1A2):c.1503+5G>A
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup) rs1791961847
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser) rs1185283931
NM_000089.4(COL1A2):c.1557+5G>T rs193922161
NM_000089.4(COL1A2):c.1557+6T>C
NM_000089.4(COL1A2):c.1562C>T (p.Ala521Val)
NM_000089.4(COL1A2):c.1570C>T (p.Pro524Ser) rs1791979962
NM_000089.4(COL1A2):c.157G>A (p.Asp53Asn)
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)
NM_000089.4(COL1A2):c.1604G>C (p.Gly535Ala) rs1791980863
NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp) rs1584322496
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) rs42524
NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)
NM_000089.4(COL1A2):c.1652C>T (p.Pro551Leu)
NM_000089.4(COL1A2):c.1665+14_1665+15delinsCG
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr) rs2115910291
NM_000089.4(COL1A2):c.1700T>C (p.Val567Ala)
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu) rs2115910396
NM_000089.4(COL1A2):c.1719+19A>G
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)
NM_000089.4(COL1A2):c.1765-5T>C rs2115916781
NM_000089.4(COL1A2):c.1772G>A (p.Arg591His)
NM_000089.4(COL1A2):c.1772G>C (p.Arg591Pro)
NM_000089.4(COL1A2):c.1789A>G (p.Ser597Gly)
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)
NM_000089.4(COL1A2):c.1826G>A (p.Arg609Gln)
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)
NM_000089.4(COL1A2):c.1888G>A (p.Val630Met)
NM_000089.4(COL1A2):c.1890G>A (p.Val630=)
NM_000089.4(COL1A2):c.1895C>G (p.Thr632Ser)
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly) rs2115921517
NM_000089.4(COL1A2):c.1908T>A (p.Ser636=) rs1584324517
NM_000089.4(COL1A2):c.1912C>T (p.Pro638Ser)
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu) rs1064797338
NM_000089.4(COL1A2):c.1943C>T (p.Ala648Val)
NM_000089.4(COL1A2):c.1948A>G (p.Ile650Val) rs781672171
NM_000089.4(COL1A2):c.1952C>T (p.Pro651Leu)
NM_000089.4(COL1A2):c.1971+3A>G rs756587993
NM_000089.4(COL1A2):c.1971+3A>T rs756587993
NM_000089.4(COL1A2):c.1971+4C>T
NM_000089.4(COL1A2):c.1987A>G (p.Arg663Gly)
NM_000089.4(COL1A2):c.199C>T (p.Pro67Ser)
NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)
NM_000089.4(COL1A2):c.2025+4A>G
NM_000089.4(COL1A2):c.2026-1_2042dup rs1584325529
NM_000089.4(COL1A2):c.2074G>A (p.Asp692Asn)
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
NM_000089.4(COL1A2):c.208C>T (p.Pro70Ser)
NM_000089.4(COL1A2):c.2095G>C (p.Ala699Pro)
NM_000089.4(COL1A2):c.2095GCTGGTCCT[4] (p.Pro707_Arg708insAlaGlyPro)
NM_000089.4(COL1A2):c.2101C>G (p.Pro701Ala)
NM_000089.4(COL1A2):c.2113G>T (p.Ala705Ser)
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro) rs72658163
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu) rs773392397
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly) rs1584326175
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.4(COL1A2):c.2187+14A>G rs1792135004
NM_000089.4(COL1A2):c.2187+6T>A rs794727585
NM_000089.4(COL1A2):c.2188-6_2188-1dup
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)
NM_000089.4(COL1A2):c.223G>T (p.Gly75Trp) rs2115860730
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
NM_000089.4(COL1A2):c.2276T>C (p.Val759Ala)
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)
NM_000089.4(COL1A2):c.2295+3A>C rs757560633
NM_000089.4(COL1A2):c.2295+5G>C rs2115932392
NM_000089.4(COL1A2):c.2295T>C (p.Ala765=)
NM_000089.4(COL1A2):c.2296-3T>G
NM_000089.4(COL1A2):c.22C>T (p.Arg8Trp)
NM_000089.4(COL1A2):c.2329C>G (p.Arg777Gly)
NM_000089.4(COL1A2):c.2329C>T (p.Arg777Cys) rs779108678
NM_000089.4(COL1A2):c.2329_2331del (p.Arg777del)
NM_000089.4(COL1A2):c.2345C>T (p.Pro782Leu)
NM_000089.4(COL1A2):c.2349+3G>A
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)
NM_000089.4(COL1A2):c.2403+3A>G
NM_000089.4(COL1A2):c.2404-15T>C
NM_000089.4(COL1A2):c.2404-17del
NM_000089.4(COL1A2):c.2429C>G (p.Pro810Arg)
NM_000089.4(COL1A2):c.2434C>T (p.Pro812Ser) rs1584327886
NM_000089.4(COL1A2):c.2455C>T (p.Arg819Cys) rs2115941044
NM_000089.4(COL1A2):c.245A>G (p.Asp82Gly)
NM_000089.4(COL1A2):c.2464C>T (p.Arg822Cys)
NM_000089.4(COL1A2):c.2474A>C (p.Gln825Pro) rs556922843
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)
NM_000089.4(COL1A2):c.2482G>T (p.Val828Phe)
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)
NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)
NM_000089.4(COL1A2):c.2515C>T (p.Pro839Ser)
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)
NM_000089.4(COL1A2):c.2550A>G (p.Gly850=)
NM_000089.4(COL1A2):c.2550A>T (p.Gly850=)
NM_000089.4(COL1A2):c.2554G>A (p.Ala852Thr)
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val) rs538945650
NM_000089.4(COL1A2):c.2596CTT[1] (p.Leu867del)
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
NM_000089.4(COL1A2):c.266G>T (p.Gly89Val)
NM_000089.4(COL1A2):c.2673+6T>A
NM_000089.4(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)
NM_000089.4(COL1A2):c.2717G>C (p.Arg906Pro) rs147063981
NM_000089.4(COL1A2):c.2740A>G (p.Ser914Gly)
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)
NM_000089.4(COL1A2):c.2771C>G (p.Ala924Gly)
NM_000089.4(COL1A2):c.2776C>T (p.Arg926Cys)
NM_000089.4(COL1A2):c.2781+16G>A
NM_000089.4(COL1A2):c.2782-13G>A
NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)
NM_000089.4(COL1A2):c.279+3A>G
NM_000089.4(COL1A2):c.280-7_280-3del rs2115874855
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr) rs1476399806
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys) rs779303344
NM_000089.4(COL1A2):c.2858A>G (p.Asn953Ser)
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val) rs1482901474
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg) rs1437648908
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=) rs142352627
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly) rs2115952651
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala) rs1584330105
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu) rs1792270576
NM_000089.4(COL1A2):c.2997+6T>A rs1584330154
NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)
NM_000089.4(COL1A2):c.302C>T (p.Pro101Leu)
NM_000089.4(COL1A2):c.3049A>G (p.Arg1017Gly)
NM_000089.4(COL1A2):c.304C>A (p.Pro102Thr) rs189557655
NM_000089.4(COL1A2):c.305C>G (p.Pro102Arg) rs780850548
NM_000089.4(COL1A2):c.3074A>G (p.His1025Arg)
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)
NM_000089.4(COL1A2):c.3106-11T>C rs1792292305
NM_000089.4(COL1A2):c.3118G>T (p.Asp1040Tyr)
NM_000089.4(COL1A2):c.3130C>T (p.Pro1044Ser)
NM_000089.4(COL1A2):c.3159+3A>C rs2115957293
NM_000089.4(COL1A2):c.3159+6T>A rs2115957317
NM_000089.4(COL1A2):c.3162_3224del (p.Pro1058_Gly1078del) rs2115957705
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)
NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)
NM_000089.4(COL1A2):c.3208C>T (p.His1070Tyr)
NM_000089.4(COL1A2):c.3210T>A (p.His1070Gln) rs2115957891
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) rs763974489
NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)
NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)
NM_000089.4(COL1A2):c.3267+5G>C rs2115958193
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=) rs548761767
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5]) rs74315103
NM_000089.4(COL1A2):c.3287_3288insTCCCCCTGT (p.Pro1098_Gly1099insValProPro) rs1562908061
NM_000089.4(COL1A2):c.3289C>T (p.Pro1097Ser)
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)
NM_000089.4(COL1A2):c.3319G>T (p.Gly1107Cys) rs745396382
NM_000089.4(COL1A2):c.3338A>C (p.Asp1113Ala) rs1562908093
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.4(COL1A2):c.3360C>A (p.Asp1120Glu)
NM_000089.4(COL1A2):c.3367C>T (p.Arg1123Cys) rs765271962
NM_000089.4(COL1A2):c.3368G>A (p.Arg1123His) rs145541630
NM_000089.4(COL1A2):c.3368G>C (p.Arg1123Pro)
NM_000089.4(COL1A2):c.3382C>T (p.Leu1128Phe)
NM_000089.4(COL1A2):c.3403G>T (p.Val1135Phe)
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly) rs745366015
NM_000089.4(COL1A2):c.3407A>T (p.Asp1136Val) rs745366015
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg) rs2115875606
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His) rs374282276
NM_000089.4(COL1A2):c.3430A>T (p.Asn1144Tyr) rs374282276
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln) rs746701185
NM_000089.4(COL1A2):c.3443C>T (p.Thr1148Ile)
NM_000089.4(COL1A2):c.3463T>A (p.Ser1155Thr)
NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)
NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)
NM_000089.4(COL1A2):c.3481C>T (p.Arg1161Cys)
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu) rs542912072
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr) rs1792314999
NM_000089.4(COL1A2):c.3502C>A (p.Leu1168Ile)
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)
NM_000089.4(COL1A2):c.3526+3A>G
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del) rs1554398685
NM_000089.4(COL1A2):c.3556T>C (p.Cys1186Arg) rs1421198378
NM_000089.4(COL1A2):c.3559A>G (p.Thr1187Ala)
NM_000089.4(COL1A2):c.3562A>G (p.Met1188Val)
NM_000089.4(COL1A2):c.3565G>A (p.Asp1189Asn)
NM_000089.4(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.4(COL1A2):c.3571A>G (p.Ile1191Val) rs1792328980
NM_000089.4(COL1A2):c.3575A>G (p.Lys1192Arg)
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr) rs1792329797
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro) rs200492800
NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys) rs267601644
NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)
NM_000089.4(COL1A2):c.3635C>T (p.Pro1212Leu)
NM_000089.4(COL1A2):c.3656G>A (p.Ser1219Asn) rs1554398702
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr) rs774383359
NM_000089.4(COL1A2):c.368C>A (p.Pro123His) rs1791759808
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=) rs1792333529
NM_000089.4(COL1A2):c.3711+3G>A
NM_000089.4(COL1A2):c.3711+6G>A
NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val) rs1792349508
NM_000089.4(COL1A2):c.3760C>T (p.Leu1254Phe)
NM_000089.4(COL1A2):c.3769A>G (p.Met1257Val) rs1792350190
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys) rs766273613
NM_000089.4(COL1A2):c.379-3T>C
NM_000089.4(COL1A2):c.3797A>C (p.Gln1266Pro)
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser) rs1554398835
NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)
NM_000089.4(COL1A2):c.3832T>C (p.Tyr1278His)
NM_000089.4(COL1A2):c.3835A>T (p.Met1279Leu)
NM_000089.4(COL1A2):c.3836T>C (p.Met1279Thr)
NM_000089.4(COL1A2):c.3838G>A (p.Asp1280Asn)
NM_000089.4(COL1A2):c.3852C>T (p.Gly1284=) rs663
NM_000089.4(COL1A2):c.3854A>G (p.Asn1285Ser) rs1584332850
NM_000089.4(COL1A2):c.3866C>G (p.Ala1289Gly)
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg) rs2115966913
NM_000089.4(COL1A2):c.3889G>A (p.Asp1297Asn)
NM_000089.4(COL1A2):c.3897A>C (p.Glu1299Asp)
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe) rs1725653924
NM_000089.4(COL1A2):c.3902T>C (p.Val1301Ala)
NM_000089.4(COL1A2):c.392C>T (p.Ala131Val)
NM_000089.4(COL1A2):c.3936dup (p.Leu1313fs) rs2115967082
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg) rs1792355097
NM_000089.4(COL1A2):c.394C>T (p.Arg132Cys)
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr) rs2115967180
NM_000089.4(COL1A2):c.3974G>A (p.Gly1325Glu)
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met) rs943353660
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)
NM_000089.4(COL1A2):c.4047C>G (p.Ile1349Met)
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter) rs760626067
NM_000089.4(COL1A2):c.4069T>C (p.Phe1357Leu)
NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)
NM_000089.4(COL1A2):c.417C>T (p.Gly139=)
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser) rs1791770915
NM_000089.4(COL1A2):c.440C>G (p.Pro147Arg)
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys) rs1791771795
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)
NM_000089.4(COL1A2):c.500T>C (p.Phe167Ser)
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser) rs2115879087
NM_000089.4(COL1A2):c.517C>T (p.Leu173Phe)
NM_000089.4(COL1A2):c.520C>T (p.Pro174Ser)
NM_000089.4(COL1A2):c.529A>C (p.Lys177Gln) rs1222909339
NM_000089.4(COL1A2):c.531A>C (p.Lys177Asn)
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)
NM_000089.4(COL1A2):c.595-5T>G
NM_000089.4(COL1A2):c.635A>C (p.Gln212Pro)
NM_000089.4(COL1A2):c.639+3A>G rs2115886901
NM_000089.4(COL1A2):c.639+4A>T
NM_000089.4(COL1A2):c.639+4_639+7del
NM_000089.4(COL1A2):c.639A>G (p.Thr213=) rs1015392105
NM_000089.4(COL1A2):c.653T>G (p.Leu218Arg)
NM_000089.4(COL1A2):c.665G>C (p.Arg222Thr)
NM_000089.4(COL1A2):c.693+2dup rs2115888133
NM_000089.4(COL1A2):c.693+6T>G rs2115888140
NM_000089.4(COL1A2):c.709G>A (p.Asp237Asn)
NM_000089.4(COL1A2):c.71-6C>A rs201076141
NM_000089.4(COL1A2):c.71-6C>T rs201076141
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)
NM_000089.4(COL1A2):c.739-3C>T
NM_000089.4(COL1A2):c.757G>C (p.Gly253Arg) rs1584318623
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) rs1584318648
NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val) rs1554395967
NM_000089.4(COL1A2):c.781C>G (p.Pro261Ala) rs141075408
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
NM_000089.4(COL1A2):c.792+6A>C
NM_000089.4(COL1A2):c.798A>C (p.Glu266Asp)
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp) rs2115851777
NM_000089.4(COL1A2):c.82-6T>C
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys) rs1479695906
NM_000089.4(COL1A2):c.832C>G (p.Pro278Ala)
NM_000089.4(COL1A2):c.833C>T (p.Pro278Leu) rs2115892207
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro) rs374616916
NM_000089.4(COL1A2):c.836C>G (p.Ala279Gly)
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)
NM_000089.4(COL1A2):c.866G>C (p.Gly289Ala) rs67031201
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile) rs145693444
NM_000089.4(COL1A2):c.887C>A (p.Pro296His)
NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)
NM_000089.4(COL1A2):c.891+4A>G
NM_000089.4(COL1A2):c.891T>G (p.Pro297=)
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr) rs2115893108
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser) rs2115894024
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr) rs1791879479
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)
NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)
NM_000095.3(COMP):c.*111A>G rs886054301
NM_000095.3(COMP):c.1285_1286dup (p.Cys430fs)
NM_000095.3(COMP):c.1406A>T (p.Asp469Val) rs766950514
NM_000095.3(COMP):c.1454G>A (p.Arg485His) rs2055164177
NM_000095.3(COMP):c.1489+2T>A rs1131692038
NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) rs1451255197
NM_000095.3(COMP):c.165+9C>A rs886054306
NM_000095.3(COMP):c.1836C>G (p.Val612=) rs886054302
NM_000095.3(COMP):c.1993C>A (p.Arg665=) rs370202476
NM_000095.3(COMP):c.2048G>A (p.Arg683His) rs565459602
NM_000095.3(COMP):c.2092C>T (p.Arg698Ter) rs763098832
NM_000095.3(COMP):c.2150T>G (p.Met717Arg) rs1601049483
NM_000095.3(COMP):c.218-13C>A rs1225414726
NM_000095.3(COMP):c.218-14C>A rs150008764
NM_000095.3(COMP):c.218-14C>G rs150008764
NM_000095.3(COMP):c.314C>T (p.Thr105Met) rs1377001812
NM_000095.3(COMP):c.327G>T (p.Ala109=) rs2055200293
NM_000095.3(COMP):c.345C>G (p.Pro115=) rs2055200093
NM_000095.3(COMP):c.381C>T (p.Asp127=) rs2055199653
NM_000095.3(COMP):c.582C>G (p.Asn194Lys) rs1352615165
NM_000095.3(COMP):c.595A>G (p.Asn199Asp) rs2145903787
NM_000095.3(COMP):c.620G>A (p.Gly207Asp) rs886054304
NM_000095.3(COMP):c.69G>A (p.Gln23=) rs886054307
NM_000095.3(COMP):c.805G>A (p.Asp269Asn) rs2145903436
NM_000095.3(COMP):c.862C>A (p.Arg288Ser) rs762455276
NM_000112.4(SLC26A2):c.*1040T>C rs1755133644
NM_000112.4(SLC26A2):c.*1146G>T rs886060232
NM_000112.4(SLC26A2):c.*1221del rs886060233
NM_000112.4(SLC26A2):c.*1221dup rs886060233
NM_000112.4(SLC26A2):c.*1260C>T rs568364063
NM_000112.4(SLC26A2):c.*1376T>G rs1028181479
NM_000112.4(SLC26A2):c.*1543C>T rs886060235
NM_000112.4(SLC26A2):c.*204C>T rs529744947
NM_000112.4(SLC26A2):c.*2357T>C rs886060240
NM_000112.4(SLC26A2):c.*2476T>C rs570682108
NM_000112.4(SLC26A2):c.*264C>G rs886060228
NM_000112.4(SLC26A2):c.*2790G>A rs886060243
NM_000112.4(SLC26A2):c.*2970G>A rs572039810
NM_000112.4(SLC26A2):c.*3044G>A rs886060244
NM_000112.4(SLC26A2):c.*3360A>T rs1755178371
NM_000112.4(SLC26A2):c.*3690CAG[1] rs886060246
NM_000112.4(SLC26A2):c.*3940C>T rs1048014506
NM_000112.4(SLC26A2):c.*4017C>A rs1755189390
NM_000112.4(SLC26A2):c.*4104A>T rs1372026789
NM_000112.4(SLC26A2):c.*4333G>A rs886060248
NM_000112.4(SLC26A2):c.*4419A>C rs140200789
NM_000112.4(SLC26A2):c.*4469dup rs397883627
NM_000112.4(SLC26A2):c.*4514T>G rs1755199198
NM_000112.4(SLC26A2):c.*4857A>G rs1755205853
NM_000112.4(SLC26A2):c.*5214A>G rs1755210770
NM_000112.4(SLC26A2):c.*5387T>G rs567348765
NM_000112.4(SLC26A2):c.*5416A>C rs1007945580
NM_000112.4(SLC26A2):c.*896A>G rs886060230
NM_000112.4(SLC26A2):c.*974C>G rs886060231
NM_000112.4(SLC26A2):c.-163T>C rs886060221
NM_000112.4(SLC26A2):c.-206T>A rs560467935
NM_000112.4(SLC26A2):c.-223A>G rs886060220
NM_000112.4(SLC26A2):c.-229T>C rs766027398
NM_000112.4(SLC26A2):c.-238G>A rs11953129
NM_000112.4(SLC26A2):c.1011TGT[5] (p.Val341dup) rs121908077
NM_000112.4(SLC26A2):c.1023AGC[3] (p.Ala343dup) rs1554095304
NM_000112.4(SLC26A2):c.1040C>T (p.Ser347Phe)
NM_000112.4(SLC26A2):c.1052A>G (p.Lys351Arg)
NM_000112.4(SLC26A2):c.1058A>G (p.His353Arg) rs1392464335
NM_000112.4(SLC26A2):c.1073C>T (p.Ser358Phe) rs768874273
NM_000112.4(SLC26A2):c.1091T>C (p.Ile364Thr) rs1360579129
NM_000112.4(SLC26A2):c.1112C>T (p.Pro371Leu)
NM_000112.4(SLC26A2):c.1114A>G (p.Lys372Glu) rs1755081510
NM_000112.4(SLC26A2):c.1115A>G (p.Lys372Arg)
NM_000112.4(SLC26A2):c.1135A>C (p.Ile379Leu)
NM_000112.4(SLC26A2):c.1154A>C (p.Asp385Ala) rs2113698323
NM_000112.4(SLC26A2):c.1169C>T (p.Ser390Phe)
NM_000112.4(SLC26A2):c.117C>G (p.Phe39Leu)
NM_000112.4(SLC26A2):c.1229A>G (p.Tyr410Cys) rs1297067317
NM_000112.4(SLC26A2):c.1241C>T (p.Ala414Val) rs2113698470
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.4(SLC26A2):c.1264G>A (p.Gly422Ser)
NM_000112.4(SLC26A2):c.1265G>C (p.Gly422Ala)
NM_000112.4(SLC26A2):c.1312G>T (p.Ala438Ser)
NM_000112.4(SLC26A2):c.1381G>T (p.Ala461Ser)
NM_000112.4(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.4(SLC26A2):c.1405C>G (p.Leu469Val)
NM_000112.4(SLC26A2):c.1423T>C (p.Phe475Leu)
NM_000112.4(SLC26A2):c.1439A>G (p.Lys480Arg)
NM_000112.4(SLC26A2):c.1447C>T (p.Leu483Phe)
NM_000112.4(SLC26A2):c.1463T>C (p.Ile488Thr) rs2113698778
NM_000112.4(SLC26A2):c.1481C>T (p.Ala494Val)
NM_000112.4(SLC26A2):c.1486C>T (p.Arg496Cys)
NM_000112.4(SLC26A2):c.149C>T (p.Pro50Leu) rs1755018969
NM_000112.4(SLC26A2):c.1541T>C (p.Ile514Thr)
NM_000112.4(SLC26A2):c.1549G>C (p.Val517Leu)
NM_000112.4(SLC26A2):c.1564T>C (p.Ser522Pro)
NM_000112.4(SLC26A2):c.1616T>A (p.Ile539Lys)
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His) rs745802790
NM_000112.4(SLC26A2):c.1655C>T (p.Ser552Leu) rs1755094376
NM_000112.4(SLC26A2):c.1666T>A (p.Leu556Met) rs1755094647
NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe) rs2113699055
NM_000112.4(SLC26A2):c.1670T>C (p.Val557Ala)
NM_000112.4(SLC26A2):c.1685T>C (p.Val562Ala)
NM_000112.4(SLC26A2):c.1724A>G (p.Lys575Arg)
NM_000112.4(SLC26A2):c.1739T>C (p.Ile580Thr)
NM_000112.4(SLC26A2):c.1759C>T (p.Leu587Phe) rs2113699190
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.4(SLC26A2):c.1816C>A (p.Pro606Thr) rs767618201
NM_000112.4(SLC26A2):c.1819A>G (p.Ile607Val)
NM_000112.4(SLC26A2):c.1819del (p.Ile607fs)
NM_000112.4(SLC26A2):c.1840AAG[1] (p.Lys615del)
NM_000112.4(SLC26A2):c.1849G>A (p.Ala617Thr) rs2113699347
NM_000112.4(SLC26A2):c.1898A>T (p.Asp633Val)
NM_000112.4(SLC26A2):c.1939C>T (p.His647Tyr)
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.1992C>G (p.Ile664Met)
NM_000112.4(SLC26A2):c.199A>C (p.Lys67Gln)
NM_000112.4(SLC26A2):c.2006A>T (p.Glu669Val) rs574817339
NM_000112.4(SLC26A2):c.2011C>T (p.Arg671Cys)
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val)
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu) rs2113699627
NM_000112.4(SLC26A2):c.2037C>G (p.Ile679Met)
NM_000112.4(SLC26A2):c.2042T>A (p.Val681Asp) rs1755104737
NM_000112.4(SLC26A2):c.2044C>G (p.Leu682Val) rs751425859
NM_000112.4(SLC26A2):c.2057G>A (p.Cys686Tyr) rs1581232671
NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu)
NM_000112.4(SLC26A2):c.2060A>G (p.Asn687Ser)
NM_000112.4(SLC26A2):c.2065A>G (p.Thr689Ala)
NM_000112.4(SLC26A2):c.2068G>A (p.Val690Met) rs746291695
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter) rs761932822
NM_000112.4(SLC26A2):c.2121_2123del (p.Leu708del) rs1554095431
NM_000112.4(SLC26A2):c.2146A>G (p.Met716Val)
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=) rs1755110758
NM_000112.4(SLC26A2):c.2217_*4del (p.Asp739fs)
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del) rs1204857377
NM_000112.4(SLC26A2):c.247GCCAAA[1] (p.83AK[1]) rs1554095123
NM_000112.4(SLC26A2):c.25C>G (p.His9Asp)
NM_000112.4(SLC26A2):c.264G>A (p.Met88Ile)
NM_000112.4(SLC26A2):c.326_331dup (p.Gly110_Asp111insValGly) rs1554095126
NM_000112.4(SLC26A2):c.370C>A (p.Pro124Thr)
NM_000112.4(SLC26A2):c.381T>G (p.Ile127Met)
NM_000112.4(SLC26A2):c.431C>A (p.Ser144Tyr)
NM_000112.4(SLC26A2):c.469T>A (p.Ser157Thr)
NM_000112.4(SLC26A2):c.473G>A (p.Arg158His) rs143658243
NM_000112.4(SLC26A2):c.473G>T (p.Arg158Leu) rs143658243
NM_000112.4(SLC26A2):c.560A>G (p.Asn187Ser)
NM_000112.4(SLC26A2):c.568A>G (p.Ser190Gly)
NM_000112.4(SLC26A2):c.596A>G (p.Asn199Ser) rs2113696251
NM_000112.4(SLC26A2):c.610T>G (p.Leu204Val)
NM_000112.4(SLC26A2):c.617A>G (p.His206Arg)
NM_000112.4(SLC26A2):c.627C>A (p.Asp209Glu)
NM_000112.4(SLC26A2):c.630G>C (p.Arg210Ser)
NM_000112.4(SLC26A2):c.635G>T (p.Cys212Phe)
NM_000112.4(SLC26A2):c.650A>G (p.Tyr217Cys)
NM_000112.4(SLC26A2):c.695A>G (p.Tyr232Cys)
NM_000112.4(SLC26A2):c.699+13G>T rs886060222
NM_000112.4(SLC26A2):c.706A>G (p.Met236Val)
NM_000112.4(SLC26A2):c.710G>T (p.Gly237Val) rs1228615816
NM_000112.4(SLC26A2):c.718C>G (p.Gln240Glu) rs1755069507
NM_000112.4(SLC26A2):c.719A>T (p.Gln240Leu)
NM_000112.4(SLC26A2):c.725G>T (p.Gly242Val)
NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys)
NM_000112.4(SLC26A2):c.775G>A (p.Gly259Ser) rs2113697704
NM_000112.4(SLC26A2):c.779C>T (p.Ala260Val)
NM_000112.4(SLC26A2):c.793C>T (p.Leu265Phe) rs886060223
NM_000112.4(SLC26A2):c.833C>T (p.Pro278Leu) rs1755072978
NM_000112.4(SLC26A2):c.836G>C (p.Arg279Pro) rs114569184
NM_000112.4(SLC26A2):c.837G>T (p.Arg279=) rs1755073343
NM_000112.4(SLC26A2):c.841A>C (p.Asn281His) rs1755073505
NM_000112.4(SLC26A2):c.842_865del (p.Asn281_Thr288del) rs2113697812
NM_000112.4(SLC26A2):c.844G>C (p.Gly282Arg) rs571410872
NM_000112.4(SLC26A2):c.844G>T (p.Gly282Cys) rs571410872
NM_000112.4(SLC26A2):c.854C>T (p.Ser285Leu) rs140041300
NM_000112.4(SLC26A2):c.866C>A (p.Thr289Asn) rs1225377370
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser) rs750646790
NM_000112.4(SLC26A2):c.925C>T (p.Leu309Phe)
NM_000112.4(SLC26A2):c.953C>T (p.Thr318Ile)
NM_000112.4(SLC26A2):c.95A>T (p.Gln32Leu)
NM_000112.4(SLC26A2):c.965A>G (p.Asn322Ser) rs2113698024
NM_000112.4(SLC26A2):c.980C>T (p.Ser327Phe)
NM_000112.4(SLC26A2):c.990_992del (p.Ala331del)
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val)
NM_000135.4(FANCA):c.1006+6C>A
NM_000135.4(FANCA):c.1006+6C>T
NM_000135.4(FANCA):c.1007-2dup rs2143534850
NM_000135.4(FANCA):c.1007-3C>A
NM_000135.4(FANCA):c.1012G>C (p.Asp338His)
NM_000135.4(FANCA):c.1029G>C (p.Gln343His)
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys) rs758168558
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu) rs142620413
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala) rs1449343629
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile)
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser)
NM_000135.4(FANCA):c.106_108del (p.Asn36del) rs1598202748
NM_000135.4(FANCA):c.1079G>A (p.Arg360His)
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr)
NM_000135.4(FANCA):c.1083+5G>A rs1412210234
NM_000135.4(FANCA):c.1083G>A (p.Arg361=) rs2143534230
NM_000135.4(FANCA):c.1084-5T>G
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val) rs2040094709
NM_000135.4(FANCA):c.1093A>G (p.Met365Val) rs2143530760
NM_000135.4(FANCA):c.1094T>G (p.Met365Arg) rs2040094424
NM_000135.4(FANCA):c.1096C>G (p.Leu366Val)
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro) rs2143530711
NM_000135.4(FANCA):c.1098G>C (p.Leu366=)
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr) rs1598152904
NM_000135.4(FANCA):c.1112T>C (p.Leu371Ser)
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala) rs2040093870
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met) rs2040093515
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp) rs2040093463
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu) rs2040093330
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg) rs2143530391
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala)
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1144C>G (p.Gln382Glu) rs769718381
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg) rs747766198
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile) rs751071791
NM_000135.4(FANCA):c.1153C>G (p.His385Asp)
NM_000135.4(FANCA):c.1154A>G (p.His385Arg)
NM_000135.4(FANCA):c.1161G>C (p.Gln387His)
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile)
NM_000135.4(FANCA):c.1169T>G (p.Leu390Arg) rs2143529925
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr) rs151089298
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr) rs202062504
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val)
NM_000135.4(FANCA):c.1195T>C (p.Cys399Arg) rs2040090935
NM_000135.4(FANCA):c.1198T>C (p.Phe400Leu) rs1360355945
NM_000135.4(FANCA):c.119C>T (p.Ala40Val) rs563060518
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val)
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met)
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu) rs764533094
NM_000135.4(FANCA):c.1226-13G>A rs377159744
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile) rs1555561439
NM_000135.4(FANCA):c.1255T>G (p.Phe419Val) rs2143526434
NM_000135.4(FANCA):c.1256T>C (p.Phe419Ser)
NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu) rs764140346
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg)
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile)
NM_000135.4(FANCA):c.1281G>A (p.Met427Ile) rs747322973
NM_000135.4(FANCA):c.1282G>A (p.Val428Ile) rs1026686587
NM_000135.4(FANCA):c.1283T>C (p.Val428Ala)
NM_000135.4(FANCA):c.1285A>C (p.Thr429Pro)
NM_000135.4(FANCA):c.1286C>G (p.Thr429Ser)
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile) rs1598151907
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly) rs772567344
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala) rs1015816469
NM_000135.4(FANCA):c.1300G>A (p.Val434Met)
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr) rs771047848
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr) rs2040073158
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr) rs1262122499
NM_000135.4(FANCA):c.1349A>T (p.Asp450Val) rs1213289620
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly) rs2040072996
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg) rs139248966
NM_000135.4(FANCA):c.1359+3A>G
NM_000135.4(FANCA):c.1359+4A>T rs35476732
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.1360-64_1360del rs2143477254
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr)
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu) rs2041098068
NM_000135.4(FANCA):c.1388A>G (p.His463Arg) rs2039847321
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser) rs2039847109
NM_000135.4(FANCA):c.1399A>G (p.Lys467Glu)
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr) rs1190475225
NM_000135.4(FANCA):c.139G>C (p.Ala47Pro)
NM_000135.4(FANCA):c.1400A>G (p.Lys467Arg) rs2143476944
NM_000135.4(FANCA):c.1403A>C (p.Lys468Thr) rs1598140745
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg) rs1598140745
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser) rs1236726652
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val) rs2039846606
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met) rs752092543
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val) rs752092543
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro)
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu)
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe) rs1444498671
NM_000135.4(FANCA):c.1439T>G (p.Leu480Arg) rs2143476647
NM_000135.4(FANCA):c.1441G>A (p.Val481Met)
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe) rs760790832
NM_000135.4(FANCA):c.1456C>A (p.Pro486Thr)
NM_000135.4(FANCA):c.1456C>T (p.Pro486Ser)
NM_000135.4(FANCA):c.1459C>G (p.Arg487Gly) rs143083764
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser)
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) rs929925295
NM_000135.4(FANCA):c.146G>A (p.Arg49His)
NM_000135.4(FANCA):c.1470+6A>G
NM_000135.4(FANCA):c.1470G>C (p.Gln490His) rs2039844218
NM_000135.4(FANCA):c.1471-10C>G rs368356709
NM_000135.4(FANCA):c.1471-738_1627-883del
NM_000135.4(FANCA):c.1471-7T>A
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1483C>G (p.His495Asp)
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr)
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val) rs1486117630
NM_000135.4(FANCA):c.1498C>G (p.Pro500Ala) rs776371246
NM_000135.4(FANCA):c.149T>C (p.Leu50Pro) rs2143723758
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu)
NM_000135.4(FANCA):c.1511G>A (p.Arg504His) rs778045457
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu)
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.151C>G (p.Leu51Val) rs1287320584
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu) rs755009951
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter) rs2039774778
NM_000135.4(FANCA):c.1556C>G (p.Ala519Gly)
NM_000135.4(FANCA):c.1559A>C (p.Asp520Ala)
NM_000135.4(FANCA):c.155G>A (p.Arg52Gln)
NM_000135.4(FANCA):c.1560C>G (p.Asp520Glu) rs1486566215
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu) rs1555554630
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1566+5G>A rs760087031
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp) rs2039769336
NM_000135.4(FANCA):c.1570T>C (p.Ser524Pro)
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) rs753719658
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu) rs755925068
NM_000135.4(FANCA):c.1588C>G (p.Leu530Val) rs1567628801
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe) rs1567628801
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln) rs374490484
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr)
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys) rs2143731999
NM_000135.4(FANCA):c.1606T>G (p.Ser536Ala)
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu)
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys)
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1626+5T>A rs2143458841
NM_000135.4(FANCA):c.1626+5T>C
NM_000135.4(FANCA):c.1626+6G>A
NM_000135.4(FANCA):c.1626G>A (p.Glu542=) rs2143458860
NM_000135.4(FANCA):c.1627-5A>G rs2039645024
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser) rs763074159
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu) rs2039644737
NM_000135.4(FANCA):c.1633A>G (p.Ser545Gly)
NM_000135.4(FANCA):c.1634G>C (p.Ser545Thr)
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro) rs2039644384
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val)
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe)
NM_000135.4(FANCA):c.1647G>C (p.Gln549His)
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile) rs2039643856
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr) rs2143432789
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met)
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn) rs1360481164
NM_000135.4(FANCA):c.1679A>C (p.His560Pro) rs759940726
NM_000135.4(FANCA):c.1679A>G (p.His560Arg)
NM_000135.4(FANCA):c.167A>C (p.Asp56Ala)
NM_000135.4(FANCA):c.1681A>T (p.Thr561Ser) rs2143432620
NM_000135.4(FANCA):c.1682C>G (p.Thr561Arg) rs148154682
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1690A>G (p.Ile564Val)
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr) rs769842591
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala)
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser) rs775083851
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu) rs778754162
NM_000135.4(FANCA):c.1705A>G (p.Met569Val)
NM_000135.4(FANCA):c.1709A>G (p.Glu570Gly) rs2039642209
NM_000135.4(FANCA):c.1712C>T (p.Ala571Val)
NM_000135.4(FANCA):c.1715+4G>A
NM_000135.4(FANCA):c.1716-6T>C rs2143424754
NM_000135.4(FANCA):c.1727G>C (p.Arg576Thr) rs1047794894
NM_000135.4(FANCA):c.1733A>G (p.Tyr578Cys) rs2143424595
NM_000135.4(FANCA):c.1736A>G (p.Tyr579Cys)
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs) rs2039611494
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly) rs2143424514
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val) rs145459403
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser) rs2039611087
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val)
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg) rs757637315
NM_000135.4(FANCA):c.1776+17A>G rs2143423790
NM_000135.4(FANCA):c.1776+5G>A
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-7C>A
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser) rs2039605850
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile) rs1391415619
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser)
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu) rs2143422796
NM_000135.4(FANCA):c.1795del (p.Ser599fs) rs2143422776
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys) rs562319781
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe) rs562319781
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro) rs775917892
NM_000135.4(FANCA):c.17T>G (p.Val6Gly) rs1800282
NM_000135.4(FANCA):c.1804G>T (p.Ala602Ser)
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly) rs374968669
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val) rs374968669
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup) rs2039604604
NM_000135.4(FANCA):c.1810A>G (p.Ile604Val) rs2039604673
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1816T>G (p.Ser606Ala) rs770164503
NM_000135.4(FANCA):c.1826+3A>G rs925559826
NM_000135.4(FANCA):c.1826+4T>A rs979666807
NM_000135.4(FANCA):c.1826+4T>G rs979666807
NM_000135.4(FANCA):c.1826+5G>A
NM_000135.4(FANCA):c.1826+6C>T rs748528553
NM_000135.4(FANCA):c.1827-3C>G rs772236777
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val) rs1598120974
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp)
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu) rs1433333223
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser)
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser) rs1567623107
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu)
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe)
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val)
NM_000135.4(FANCA):c.184C>G (p.Leu62Val) rs2041094921
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr) rs2039480405
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg)
NM_000135.4(FANCA):c.186T>A (p.Leu62=) rs1555580352
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser) rs1403464170
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val) rs146491000
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) rs139235751
NM_000135.4(FANCA):c.1876T>C (p.Ser626Pro)
NM_000135.4(FANCA):c.1877C>T (p.Ser626Phe) rs769311485
NM_000135.4(FANCA):c.1879G>C (p.Ala627Pro)
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala) rs1567659053
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.189+3A>G
NM_000135.4(FANCA):c.189+3A>T rs2143723295
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp)
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu)
NM_000135.4(FANCA):c.18C>G (p.Val6=) rs916719756
NM_000135.4(FANCA):c.1900+6T>C
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-3C>T
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1903G>A (p.Ala635Thr)
NM_000135.4(FANCA):c.1904C>A (p.Ala635Glu) rs142217479
NM_000135.4(FANCA):c.1907C>T (p.Ala636Val) rs2143367748
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu)
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr) rs867961005
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp)
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser) rs924548467
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys) rs1598116392
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys)
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly) rs1374330952
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys) rs1427276212
NM_000135.4(FANCA):c.1945C>T (p.Pro649Ser)
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln)
NM_000135.4(FANCA):c.195A>C (p.Glu65Asp) rs2041029016
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr)
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys)
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp)
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val)
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg)
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) rs147300317
NM_000135.4(FANCA):c.1999C>T (p.Pro667Ser) rs147300317
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala) rs780667753
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
NM_000135.4(FANCA):c.2000C>A (p.Pro667His) rs755293596
NM_000135.4(FANCA):c.2000C>G (p.Pro667Arg)
NM_000135.4(FANCA):c.2000C>T (p.Pro667Leu) rs755293596
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val)
NM_000135.4(FANCA):c.2014+10G>T rs1567620967
NM_000135.4(FANCA):c.2014+5G>A
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met)
NM_000135.4(FANCA):c.2023G>A (p.Ala675Thr) rs752701423
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro) rs752701423
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val) rs986889143
NM_000135.4(FANCA):c.2028G>C (p.Gln676His) rs2039336156
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg)
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met)
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val) rs1284083461
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile)
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)
NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn)
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu) rs376888740
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp) rs777863668
NM_000135.4(FANCA):c.2093A>C (p.Glu698Ala) rs2143350667
NM_000135.4(FANCA):c.2095A>T (p.Ile699Leu)
NM_000135.4(FANCA):c.2096T>C (p.Ile699Thr) rs752652496
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr) rs767631694
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) rs767631694
NM_000135.4(FANCA):c.2099C>T (p.Ser700Leu)
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln) rs772712346
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg) rs772712346
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met)
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg)
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile) rs2039331440
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser) rs2143350061
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro) rs2039331306
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) rs774565293
NM_000135.4(FANCA):c.213A>C (p.Lys71Asn)
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn) rs2041027459
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly) rs200284845
NM_000135.4(FANCA):c.2143G>A (p.Glu715Lys)
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val) rs2039330928
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr)
NM_000135.4(FANCA):c.2151+12G>T
NM_000135.4(FANCA):c.2151+4G>A rs1598113342
NM_000135.4(FANCA):c.2151+4G>C
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2152-6_2152-5del
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg)
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val) rs770314137
NM_000135.4(FANCA):c.2174C>G (p.Ser725Cys)
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu) rs1163885123
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe)
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr)
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn)
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile)
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr) rs751015814
NM_000135.4(FANCA):c.2212C>G (p.Pro738Ala) rs751015814
NM_000135.4(FANCA):c.2213C>A (p.Pro738His) rs762333391
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg) rs45441106
NM_000135.4(FANCA):c.2222+4A>G
NM_000135.4(FANCA):c.2222+5A>G
NM_000135.4(FANCA):c.2222+5A>T
NM_000135.4(FANCA):c.2223-3C>T rs2039278966
NM_000135.4(FANCA):c.2223-4G>T
NM_000135.4(FANCA):c.2223-6C>G rs759682612
NM_000135.4(FANCA):c.2223-8C>G rs1598110961
NM_000135.4(FANCA):c.2223-8C>T rs1598110961
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser)
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2248G>C (p.Val750Leu) rs747723074
NM_000135.4(FANCA):c.2257A>G (p.Met753Val) rs757797015
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu) rs2143711335
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser)
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe)
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro)
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile)
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe) rs917707717
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2316+6G>T rs1399631313
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp) rs2143333930
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser)
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr) rs2039267533
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg) rs545765795
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr) rs1242381795
NM_000135.4(FANCA):c.2341G>A (p.Val781Met) rs1246628258
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu) rs1246628258
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg) rs747315724
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser)
NM_000135.4(FANCA):c.2365G>A (p.Val789Met) rs771698195
NM_000135.4(FANCA):c.2368C>G (p.His790Asp) rs2039266002
NM_000135.4(FANCA):c.2368C>T (p.His790Tyr)
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val)
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala) rs762439008
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly) rs2039264657
NM_000135.4(FANCA):c.2399A>T (p.Glu800Val) rs2039264657
NM_000135.4(FANCA):c.239G>A (p.Cys80Tyr) rs1043175440
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile) rs757468756
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu) rs772721300
NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu) rs1303230442
NM_000135.4(FANCA):c.2416C>T (p.Pro806Ser)
NM_000135.4(FANCA):c.2422C>G (p.Pro808Ala) rs772367440
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val)
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser) rs1263882781
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly) rs1486995764
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser)
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg) rs778009295
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu)
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu)
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val)
NM_000135.4(FANCA):c.2455G>C (p.Asp819His)
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr) rs1459045387
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met) rs765888048
NM_000135.4(FANCA):c.2490G>T (p.Leu830Phe) rs2039261142
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
NM_000135.4(FANCA):c.2504+1G>A rs2039260545
NM_000135.4(FANCA):c.2504+3G>A rs2039260426
NM_000135.4(FANCA):c.2504+5G>T rs2039260372
NM_000135.4(FANCA):c.2505A>G (p.Lys835=) rs1555546563
NM_000135.4(FANCA):c.2509_2604del (p.Cys837_Phe868del) rs2143307773
NM_000135.4(FANCA):c.2516C>G (p.Ala839Gly)
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2521A>G (p.Ile841Val)
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys)
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys)
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr) rs2143711037
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr)
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr)
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly)
NM_000135.4(FANCA):c.2558G>A (p.Arg853Gln) rs753393669
NM_000135.4(FANCA):c.2559_2564del (p.Asp854_Thr855del) rs2143308232
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys)
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala)
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser) rs2039157272
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.259G>C (p.Ala87Pro)
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) rs2143731757
NM_000135.4(FANCA):c.2601+5G>T
NM_000135.4(FANCA):c.2601G>A (p.Lys867=) rs746889340
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-12T>A
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2602-2A>G rs1555545592
NM_000135.4(FANCA):c.2602-3C>G rs2143289922
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
NM_000135.4(FANCA):c.2628C>G (p.Phe876Leu)
NM_000135.4(FANCA):c.2629T>A (p.Ser877Thr)
NM_000135.4(FANCA):c.2629T>C (p.Ser877Pro) rs1322274178
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr) rs913466405
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys)
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
NM_000135.4(FANCA):c.2644C>A (p.Pro882Thr)
NM_000135.4(FANCA):c.2644C>T (p.Pro882Ser) rs1938055960
NM_000135.4(FANCA):c.2647C>G (p.Leu883Val)
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro)
NM_000135.4(FANCA):c.2660A>G (p.Asp887Gly) rs1222220230
NM_000135.4(FANCA):c.2662G>C (p.Val888Leu) rs774863156
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile) rs1055448646
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
NM_000135.4(FANCA):c.2683C>G (p.Pro895Ala) rs755207440
NM_000135.4(FANCA):c.2684C>A (p.Pro895His) rs1234246540
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp) rs2143288811
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe) rs142393744
NM_000135.4(FANCA):c.2689C>T (p.His897Tyr) rs766402927
NM_000135.4(FANCA):c.2692C>G (p.Leu898Val)
NM_000135.4(FANCA):c.269C>G (p.Ser90Cys)
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr) rs752776388
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys) rs752776388
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg) rs776576487
NM_000135.4(FANCA):c.2712G>C (p.Gln904His)
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val)
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile) rs1216426444
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val) rs1216426444
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro) rs1220495259
NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys) rs376302719
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile)
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln)
NM_000135.4(FANCA):c.2755G>A (p.Val919Met) rs150330232
NM_000135.4(FANCA):c.2756T>C (p.Val919Ala) rs202131468
NM_000135.4(FANCA):c.275C>T (p.Ser92Leu)
NM_000135.4(FANCA):c.2760G>C (p.Leu920Phe)
NM_000135.4(FANCA):c.2765A>C (p.Glu922Ala) rs899634878
NM_000135.4(FANCA):c.2768A>T (p.Glu923Val)
NM_000135.4(FANCA):c.2778+3A>G rs757261567
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2778C>T (p.His926=)
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG
NM_000135.4(FANCA):c.2779-3C>T
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn) rs2143261377
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) rs1567612427
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser) rs2038969615
NM_000135.4(FANCA):c.2791G>C (p.Asp931His)
NM_000135.4(FANCA):c.2809C>G (p.Leu937Val)
NM_000135.4(FANCA):c.280A>G (p.Ile94Val)
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln) rs376106733
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val) rs1598096962
NM_000135.4(FANCA):c.2820A>C (p.Gln940His)
NM_000135.4(FANCA):c.2821C>A (p.Pro941Thr) rs2038968162
NM_000135.4(FANCA):c.2822C>A (p.Pro941His)
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp) rs1217883878
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)
NM_000135.4(FANCA):c.283+5G>A rs1598199184
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn)
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr)
NM_000135.4(FANCA):c.2834C>T (p.Ala945Val) rs1221107443
NM_000135.4(FANCA):c.2836C>G (p.Leu946Val)
NM_000135.4(FANCA):c.2836C>T (p.Leu946Phe)
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala)
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val) rs193172749
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile) rs2038967398
NM_000135.4(FANCA):c.2852+12A>T rs2038966561
NM_000135.4(FANCA):c.2852+3A>G rs2038966938
NM_000135.4(FANCA):c.2853-8T>C rs2038845082
NM_000135.4(FANCA):c.2855A>C (p.Gln952Pro) rs2143225876
NM_000135.4(FANCA):c.2858A>C (p.Asp953Ala)
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu) rs2038844439
NM_000135.4(FANCA):c.2872del (p.Ala958fs) rs2038844082
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met)
NM_000135.4(FANCA):c.2878C>G (p.His960Asp)
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr) rs923046981
NM_000135.4(FANCA):c.2880T>A (p.His960Gln) rs2038843708
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala)
NM_000135.4(FANCA):c.2885A>T (p.His962Leu)
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala)
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys) rs1192724266
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2908T>C (p.Ser970Pro)
NM_000135.4(FANCA):c.2912G>C (p.Gly971Ala)
NM_000135.4(FANCA):c.2914G>A (p.Gly972Ser) rs764155334
NM_000135.4(FANCA):c.2914G>T (p.Gly972Cys)
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu) rs756241886
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly)
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro) rs2038841366
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser) rs1555542910
NM_000135.4(FANCA):c.2945C>G (p.Thr982Ser) rs772577909
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser) rs752735858
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
NM_000135.4(FANCA):c.2976C>G (p.His992Gln) rs527882851
NM_000135.4(FANCA):c.2981+3T>A
NM_000135.4(FANCA):c.2981+3T>C rs2038838887
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys) rs2038619848
NM_000135.4(FANCA):c.298G>C (p.Asp100His)
NM_000135.4(FANCA):c.2995G>C (p.Asp999His) rs1277218406
NM_000135.4(FANCA):c.2996A>G (p.Asp999Gly) rs2143164062
NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe) rs1439833580
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val)
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val) rs767105291
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys) rs1443921504
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp) rs147661788
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn)
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr) rs762111755
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys) rs762111755
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr) rs777061373
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp) rs891626452
NM_000135.4(FANCA):c.3066+13_3066+75del
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC rs2038616017
NM_000135.4(FANCA):c.3066G>C (p.Gln1022His)
NM_000135.4(FANCA):c.3067-10T>A
NM_000135.4(FANCA):c.3067-3C>T
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly)
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu)
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val)
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala) rs771174892
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp) rs1292002479
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys) rs1057245679
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser) rs769635187
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser) rs1355177352
NM_000135.4(FANCA):c.3128C>T (p.Ser1043Phe) rs964766722
NM_000135.4(FANCA):c.3134A>C (p.Glu1045Ala) rs2143139368
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del) rs2038519209
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val) rs2143139226
NM_000135.4(FANCA):c.3142_3147del (p.Leu1048_Phe1049del) rs2143139177
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala) rs954683462
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp) rs2143139115
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) rs964650941
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg) rs142379991
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser) rs1166286386
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys)
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly) rs1014152202
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu) rs140124051
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly) rs1419279017
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly)
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg) rs756620986
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His) rs753298211
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys)
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr) rs776603588
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239+2T>G rs1567603724
NM_000135.4(FANCA):c.323C>T (p.Pro108Leu)
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=)
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe) rs2038477938
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe) rs2143128365
NM_000135.4(FANCA):c.324C>G (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu) rs752642945
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg)
NM_000135.4(FANCA):c.325G>A (p.Val109Met) rs772639206
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) rs2038476999
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3281G>A (p.Ser1094Asn)
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr) rs946572285
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) rs761244757
NM_000135.4(FANCA):c.3286C>G (p.Gln1096Glu)
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg) rs1598074664
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His) rs1433848980
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His)
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val) rs2038475500
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile) rs771117949
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr)
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=) rs1598074599
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His) rs1276452090
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln)
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val)
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys) rs1236607168
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000135.4(FANCA):c.3348+4G>A rs1217286568
NM_000135.4(FANCA):c.3349-10T>C
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr)
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro) rs2038408800
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val) rs2038408286
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met) rs373168838
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys) rs2143108985
NM_000135.4(FANCA):c.3408+1G>A rs1567601557
NM_000135.4(FANCA):c.3408+6A>T rs1269046351
NM_000135.4(FANCA):c.3409-2A>C rs2143107119
NM_000135.4(FANCA):c.3409-3C>T
NM_000135.4(FANCA):c.3409-5T>G rs2038402047
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe) rs138417003
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser)
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser) rs547984666
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg) rs2038401184
NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr)
NM_000135.4(FANCA):c.3425G>C (p.Cys1142Ser)
NM_000135.4(FANCA):c.3428T>C (p.Leu1143Pro)
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg) rs1188842855
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys)
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His) rs2038400529
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu)
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val)
NM_000135.4(FANCA):c.3467T>A (p.Leu1156Gln) rs1281597417
NM_000135.4(FANCA):c.3469G>T (p.Ala1157Ser) rs1347794550
NM_000135.4(FANCA):c.346A>C (p.Met116Leu)
NM_000135.4(FANCA):c.3470C>T (p.Ala1157Val)
NM_000135.4(FANCA):c.3480G>C (p.Gln1160His) rs983310870
NM_000135.4(FANCA):c.3481A>G (p.Thr1161Ala)
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys) rs142833057
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val)
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile)
NM_000135.4(FANCA):c.3508G>C (p.Ala1170Pro) rs778280114
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro) rs1598070682
NM_000135.4(FANCA):c.3513+4G>A rs878946193
NM_000135.4(FANCA):c.3513+4G>C rs878946193
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala)
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys)
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile)
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)
NM_000135.4(FANCA):c.3536C>T (p.Pro1179Leu)
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu) rs372706571
NM_000135.4(FANCA):c.3539T>A (p.Val1180Glu) rs2143088182
NM_000135.4(FANCA):c.353C>G (p.Ala118Gly)
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del)
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg) rs1300778675
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly) rs763856094
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser) rs2143088016
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln) rs147672303
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) rs1185165443
NM_000135.4(FANCA):c.3560G>A (p.Arg1187Lys)
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe)
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg) rs1450954823
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3570G>C (p.Gln1190His) rs1382222104
NM_000135.4(FANCA):c.3574C>T (p.Pro1192Ser) rs2062210666
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser) rs1415910337
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly) rs143642304
NM_000135.4(FANCA):c.3586G>C (p.Glu1196Gln) rs1390620949
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3603A>C (p.Gln1201His) rs1157577447
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly) rs2062210162
NM_000135.4(FANCA):c.360C>A (p.Ser120Arg) rs968636087
NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly) rs759303096
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val)
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile) rs1351484293
NM_000135.4(FANCA):c.3625G>A (p.Asp1209Asn)
NM_000135.4(FANCA):c.3626+5G>A rs370801038
NM_000135.4(FANCA):c.3626+5G>C rs370801038
NM_000135.4(FANCA):c.3627-13CT[2]
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr)
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe) rs1203053045
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) rs1567598479
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val)
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser) rs1262639465
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys) rs2062171853
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser) rs1555535564
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala)
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg) rs2062171639
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala)
NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr)
NM_000135.4(FANCA):c.367C>A (p.Gln123Lys) rs985886242
NM_000135.4(FANCA):c.367C>G (p.Gln123Glu) rs985886242
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr) rs2062171185
NM_000135.4(FANCA):c.3683C>G (p.Ala1228Gly)
NM_000135.4(FANCA):c.3685G>A (p.Ala1229Thr) rs2143062040
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly) rs1465548673
NM_000135.4(FANCA):c.368A>G (p.Gln123Arg)
NM_000135.4(FANCA):c.3691C>T (p.His1231Tyr)
NM_000135.4(FANCA):c.3698C>G (p.Ala1233Gly) rs545742908
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val) rs1598063117
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3706C>G (p.Gln1236Glu)
NM_000135.4(FANCA):c.3708A>C (p.Gln1236His) rs1192518263
NM_000135.4(FANCA):c.3715G>A (p.Glu1239Lys) rs2143061441
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.371T>C (p.Ile124Thr)
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=)
NM_000135.4(FANCA):c.372C>G (p.Ile124Met) rs765016775
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn)
NM_000135.4(FANCA):c.3742A>C (p.Lys1248Gln)
NM_000135.4(FANCA):c.374G>C (p.Cys125Ser) rs761165542
NM_000135.4(FANCA):c.3753C>T (p.Cys1251=)
NM_000135.4(FANCA):c.3757A>G (p.Arg1253Gly) rs2143060537
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala)
NM_000135.4(FANCA):c.376A>T (p.Thr126Ser) rs953219736
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe) rs1402327994
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del) rs1157717956
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser) rs2062115558
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) rs2151716800
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu) rs766131144
NM_000135.4(FANCA):c.380C>T (p.Ala127Val) rs2143679916
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr) rs2062114648
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3826A>G (p.Asn1276Asp) rs2062114365
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=)
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu) rs1470679036
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) rs761705192
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe) rs17227354
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr) rs374945563
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe) rs2062089641
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro) rs2151714785
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
NM_000135.4(FANCA):c.386C>A (p.Ala129Glu) rs577625130
NM_000135.4(FANCA):c.386C>G (p.Ala129Gly)
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val) rs547572315
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys) rs1015729981
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) rs1232415717
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) rs1264855885
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro) rs1598055304
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp)
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe) rs775127240
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp) rs2151714594
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn) rs2062087829
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+1_3934+18del rs2062086999
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys)
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val) rs2151712993
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser) rs755375493
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro) rs374649848
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg) rs1272640964
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser) rs2151712907
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu) rs962823945
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
NM_000135.4(FANCA):c.397C>T (p.His133Tyr)
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu) rs774576283
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn) rs2062067864
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln) rs745577614
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr) rs751928369
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) rs1477796994
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) rs2062057880
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His) rs1555533313
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val) rs775351812
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg) rs773947543
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu) rs529210242
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met) rs201225325
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu) rs201225325
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg) rs1277481284
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile) rs2062055389
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser) rs2062055110
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr) rs775234845
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro) rs775234845
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr) rs367970303
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly) rs2062054242
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp) rs770551622
NM_000135.4(FANCA):c.415G>A (p.Val139Met)
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val) rs2062046761
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu) rs1376923890
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr) rs749574677
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) rs1457671800
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln) rs201494304
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr) rs772122405
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)
NM_000135.4(FANCA):c.426+18A>T
NM_000135.4(FANCA):c.426+3A>G
NM_000135.4(FANCA):c.426+4A>G
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp) rs2151710661
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
NM_000135.4(FANCA):c.427-12CT[2] rs2143678081
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly) rs587778321
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro) rs147406377
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val) rs1350768758
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln)
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp) rs2040847073
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys) rs1567591125
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln) rs1567591125
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp) rs1235881790
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg) rs568293451
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu) rs750021837
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.4319del (p.Gln1440fs) rs2151709763
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
NM_000135.4(FANCA):c.432G>C (p.Lys144Asn)
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn) rs769025633
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg) rs1223154937
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys) rs779236651
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg) rs757549007
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln) rs1043241541
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser) rs1489574740
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr) rs1338647532
NM_000135.4(FANCA):c.4358del (p.His1453fs) rs2151709638
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro) rs2151709628
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu) rs2143677733
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr) rs113468465
NM_000135.4(FANCA):c.494C>G (p.Ser165Cys) rs141918444
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe) rs141918444
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala) rs2041144813
NM_000135.4(FANCA):c.500G>A (p.Cys167Tyr) rs1257428184
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys) rs372691338
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
NM_000135.4(FANCA):c.506A>T (p.Glu169Val) rs1403377153
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala) rs1326963514
NM_000135.4(FANCA):c.511T>C (p.Trp171Arg)
NM_000135.4(FANCA):c.512G>T (p.Trp171Leu) rs2143677109
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg) rs2040844359
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys) rs1454055874
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys) rs35566151
NM_000135.4(FANCA):c.529T>G (p.Leu177Val) rs2040743961
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr) rs2143657513
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val) rs1598184528
NM_000135.4(FANCA):c.545T>C (p.Val182Ala) rs2040743042
NM_000135.4(FANCA):c.553C>G (p.Leu185Val) rs587778323
NM_000135.4(FANCA):c.558C>G (p.His186Gln) rs149159377
NM_000135.4(FANCA):c.559G>C (p.Val187Leu) rs761538996
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg) rs2143657111
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr)
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile) rs771439604
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg)
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys) rs2143656849
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.4(FANCA):c.596+6G>T rs369548513
NM_000135.4(FANCA):c.597-11T>G
NM_000135.4(FANCA):c.599A>G (p.His200Arg)
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys) rs928016876
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe) rs928016876
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly)
NM_000135.4(FANCA):c.607A>G (p.Met203Val) rs2143632366
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly) rs777556447
NM_000135.4(FANCA):c.616G>T (p.Val206Leu) rs2143632297
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp) rs144420697
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys) rs1018067067
NM_000135.4(FANCA):c.628C>G (p.Leu210Val) rs2143632135
NM_000135.4(FANCA):c.631T>C (p.Phe211Leu)
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg)
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser) rs750011288
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe)
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser) rs761341952
NM_000135.4(FANCA):c.663G>A (p.Met221Ile) rs1161493688
NM_000135.4(FANCA):c.664G>A (p.Glu222Lys) rs2040599267
NM_000135.4(FANCA):c.667G>C (p.Ala223Pro) rs771195871
NM_000135.4(FANCA):c.668C>T (p.Ala223Val) rs749362808
NM_000135.4(FANCA):c.674G>A (p.Cys225Tyr)
NM_000135.4(FANCA):c.679C>T (p.His227Tyr)
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser) rs746814384
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe) rs1316244239
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-16T>A
NM_000135.4(FANCA):c.710-2A>G rs2040523467
NM_000135.4(FANCA):c.710-3C>A
NM_000135.4(FANCA):c.715G>A (p.Val239Ile)
NM_000135.4(FANCA):c.715G>C (p.Val239Leu)
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu) rs1184639006
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe) rs2040522671
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser)
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) rs760744752
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu)
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser) rs1025722534
NM_000135.4(FANCA):c.766A>G (p.Thr256Ala) rs898767175
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn) rs377078635
NM_000135.4(FANCA):c.768T>C (p.Thr256=) rs1459779461
NM_000135.4(FANCA):c.769G>T (p.Val257Leu) rs777311234
NM_000135.4(FANCA):c.76C>G (p.Leu26Val) rs2041137276
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) rs200988394
NM_000135.4(FANCA):c.775C>T (p.Pro259Ser)
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg) rs1598173112
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly)
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu)
NM_000135.4(FANCA):c.79+4G>A rs2041136967
NM_000135.4(FANCA):c.79+4G>C rs2041136967
NM_000135.4(FANCA):c.79+6T>C
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu) rs2143585439
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.80-10C>A rs771005210
NM_000135.4(FANCA):c.80-5C>G
NM_000135.4(FANCA):c.80-6C>G rs981258320
NM_000135.4(FANCA):c.80-8C>G rs749080227
NM_000135.4(FANCA):c.805G>A (p.Val269Ile) rs1555566973
NM_000135.4(FANCA):c.808C>T (p.Leu270=)
NM_000135.4(FANCA):c.80C>T (p.Ala27Val)
NM_000135.4(FANCA):c.813G>C (p.Gln271His) rs773057753
NM_000135.4(FANCA):c.825T>A (p.Ile275=)
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.826+4A>G
NM_000135.4(FANCA):c.827-2A>G rs2040355782
NM_000135.4(FANCA):c.827-3C>T
NM_000135.4(FANCA):c.827-7T>G rs370344285
NM_000135.4(FANCA):c.830C>T (p.Ala277Val) rs35880318
NM_000135.4(FANCA):c.831_848dup (p.Leu278_Ala283dup) rs761967813
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.4(FANCA):c.837C>A (p.Asp279Glu) rs752311383
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe) rs2143581630
NM_000135.4(FANCA):c.844_845delinsTA (p.Ala282Tyr) rs2143581602
NM_000135.4(FANCA):c.848C>G (p.Ala283Gly) rs770479721
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala) rs762079136
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu) rs1291524243
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys) rs185984960
NM_000135.4(FANCA):c.869C>T (p.Ser290Phe) rs185984960
NM_000135.4(FANCA):c.86G>T (p.Arg29Met) rs764561391
NM_000135.4(FANCA):c.871A>G (p.Thr291Ala)
NM_000135.4(FANCA):c.874C>T (p.His292Tyr)
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu)
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) rs1555566545
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr) rs878853667
NM_000135.4(FANCA):c.88G>T (p.Val30Phe) rs1160471115
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg) rs2040352921
NM_000135.4(FANCA):c.893+4T>C rs2143580838
NM_000135.4(FANCA):c.893+4T>G rs2143580838
NM_000135.4(FANCA):c.894-3C>G rs2040234388
NM_000135.4(FANCA):c.894-3C>T rs2040234388
NM_000135.4(FANCA):c.894G>T (p.Trp298Cys)
NM_000135.4(FANCA):c.896_897delinsCT (p.Phe299Ser) rs2040234249
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu) rs765341703
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg) rs1467900630
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup) rs2143731691
NM_000135.4(FANCA):c.901G>A (p.Val301Met) rs201134867
NM_000135.4(FANCA):c.901G>C (p.Val301Leu)
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu) rs745451374
NM_000135.4(FANCA):c.917C>A (p.Thr306Lys) rs370852532
NM_000135.4(FANCA):c.917C>G (p.Thr306Arg) rs370852532
NM_000135.4(FANCA):c.919C>A (p.Leu307Ile)
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp) rs1441102361
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg)
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) rs759630319
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr)
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.4(FANCA):c.961A>G (p.Ser321Gly)
NM_000135.4(FANCA):c.962G>A (p.Ser321Asn)
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu)
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys) rs2041101017
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys) rs2143558288
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile) rs757617469
NM_000135.4(FANCA):c.988C>G (p.His330Asp) rs753951882
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly)
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr) rs1056497675
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser)
NM_000136.2(FANCC):c.-262-4937_-79+3379del
NM_000136.3(FANCC):c.*1059A>T rs1044866059
NM_000136.3(FANCC):c.*1096T>C rs111688138
NM_000136.3(FANCC):c.*1276C>A rs1057515698
NM_000136.3(FANCC):c.*1359C>G rs1009336483
NM_000136.3(FANCC):c.*1515C>T rs2071028910
NM_000136.3(FANCC):c.*1727T>C rs4647557
NM_000136.3(FANCC):c.*1895T>G rs56161090
NM_000136.3(FANCC):c.*2164G>T rs566582636
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*825C>A rs1057515700
NM_000136.3(FANCC):c.-172G>T rs1057515706
NM_000136.3(FANCC):c.-19C>T
NM_000136.3(FANCC):c.-59T>C
NM_000136.3(FANCC):c.-73A>G rs1831191027
NM_000136.3(FANCC):c.-73A>T rs1831191027
NM_000136.3(FANCC):c.-78-1G>C rs2136103070
NM_000136.3(FANCC):c.-78-2A>G rs587779898
NM_000136.3(FANCC):c.-78-3C>A
NM_000136.3(FANCC):c.-79+1del
NM_000136.3(FANCC):c.-79+2dup rs2136457021
NM_000136.3(FANCC):c.-8T>C
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser) rs78555330
NM_000136.3(FANCC):c.1009C>G (p.Leu337Val)
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe) rs587779899
NM_000136.3(FANCC):c.1014G>A (p.Lys338=) rs780776360
NM_000136.3(FANCC):c.1023T>G (p.Phe341Leu) rs758439579
NM_000136.3(FANCC):c.1034C>T (p.Ser345Phe) rs1348320350
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr) rs143212932
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1072+3G>C rs2134691883
NM_000136.3(FANCC):c.1072+5G>A
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg) rs730881721
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) rs768508859
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val) rs1246894660
NM_000136.3(FANCC):c.1087C>G (p.His363Asp) rs2134632030
NM_000136.3(FANCC):c.1088A>G (p.His363Arg) rs2072244970
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe) rs1060502514
NM_000136.3(FANCC):c.1098G>C (p.Gln366His) rs1564652354
NM_000136.3(FANCC):c.110A>C (p.His37Pro) rs1564794663
NM_000136.3(FANCC):c.1112T>C (p.Ile371Thr) rs2072242960
NM_000136.3(FANCC):c.1129G>A (p.Glu377Lys) rs1588060425
NM_000136.3(FANCC):c.112G>C (p.Val38Leu) rs778951584
NM_000136.3(FANCC):c.1131A>C (p.Glu377Asp) rs2134631019
NM_000136.3(FANCC):c.1132G>A (p.Ala378Thr) rs2134630989
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala) rs745693332
NM_000136.3(FANCC):c.1148C>T (p.Thr383Ile)
NM_000136.3(FANCC):c.1154+2dup rs1386979449
NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.1166G>A (p.Gly389Asp) rs2071942181
NM_000136.3(FANCC):c.1194T>G (p.Ile398Met) rs752274299
NM_000136.3(FANCC):c.1198T>G (p.Phe400Val) rs1480679034
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.120G>C (p.Gln40His) rs905858585
NM_000136.3(FANCC):c.1217T>C (p.Met406Thr) rs1159499581
NM_000136.3(FANCC):c.1218G>C (p.Met406Ile) rs766086120
NM_000136.3(FANCC):c.1225G>A (p.Glu409Lys) rs1209529082
NM_000136.3(FANCC):c.1235T>C (p.Leu412Pro)
NM_000136.3(FANCC):c.1243G>A (p.Ala415Thr)
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu) rs550462055
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp) rs1064795135
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg) rs864622514
NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly)
NM_000136.3(FANCC):c.1274T>C (p.Leu425Pro) rs1588047966
NM_000136.3(FANCC):c.1283T>G (p.Phe428Cys) rs2134547742
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del) rs1588047930
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del) rs1210997135
NM_000136.3(FANCC):c.1294C>T (p.Pro432Ser) rs2134547266
NM_000136.3(FANCC):c.1297C>A (p.Arg433Ser) rs369684405
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn) rs864622522
NM_000136.3(FANCC):c.1300G>C (p.Asp434His)
NM_000136.3(FANCC):c.1301A>G (p.Asp434Gly) rs2134547041
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys) rs201549126
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser) rs1588353402
NM_000136.3(FANCC):c.1329+115C>T rs2071912393
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+166_1329+168del rs1554829374
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1329G>A (p.Met443Ile) rs772133680
NM_000136.3(FANCC):c.1330-10T>C rs1386511892
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.3(FANCC):c.1346T>C (p.Val449Ala) rs2134456617
NM_000136.3(FANCC):c.134T>G (p.Leu45Arg) rs2136100589
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis) rs1064793615
NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe) rs1064793901
NM_000136.3(FANCC):c.1358T>C (p.Leu453Pro)
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro) rs1554828451
NM_000136.3(FANCC):c.1364C>T (p.Ala455Val) rs2071516903
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.3(FANCC):c.1375A>G (p.Ser459Gly)
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu) rs1588029402
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val) rs1554828405
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) rs1588353368
NM_000136.3(FANCC):c.140A>G (p.Lys47Arg) rs1588353368
NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg) rs1588029264
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn)
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly) rs1375711161
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) rs773270231
NM_000136.3(FANCC):c.1450C>A (p.Gln484Lys) rs764271678
NM_000136.3(FANCC):c.1456C>A (p.Leu486Met)
NM_000136.3(FANCC):c.1457T>C (p.Leu486Pro) rs753031127
NM_000136.3(FANCC):c.1461C>G (p.Ile487Met) rs2134455188
NM_000136.3(FANCC):c.1471C>G (p.Leu491Val)
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del) rs2071510744
NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser)
NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe)
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu) rs1831182314
NM_000136.3(FANCC):c.1501G>A (p.Gly501Ser) rs746540247
NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp) rs536599109
NM_000136.3(FANCC):c.1502G>T (p.Gly501Val) rs536599109
NM_000136.3(FANCC):c.1504C>T (p.His502Tyr)
NM_000136.3(FANCC):c.1513G>T (p.Ala505Ser) rs780179187
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.3(FANCC):c.1520A>T (p.Asp507Val)
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn) rs1233501553
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro) rs1554828313
NM_000136.3(FANCC):c.1533+5G>A rs1588028749
NM_000136.3(FANCC):c.1533+6T>A rs2071505631
NM_000136.3(FANCC):c.1533G>C (p.Leu511=) rs2071506268
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1534-8G>A rs2071090579
NM_000136.3(FANCC):c.1542C>G (p.His514Gln)
NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr)
NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp) rs1588008452
NM_000136.3(FANCC):c.1560C>G (p.His520Gln) rs150020474
NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp) rs2071088182
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe) rs1060502518
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu) rs971409322
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro) rs587778326
NM_000136.3(FANCC):c.1596A>G (p.Arg532=) rs1588008241
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly) rs730881728
NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys)
NM_000136.3(FANCC):c.1610G>T (p.Gly537Val)
NM_000136.3(FANCC):c.1615G>A (p.Glu539Lys) rs2071085287
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg) rs1588008112
NM_000136.3(FANCC):c.1621C>T (p.Pro541Ser) rs2071084988
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) rs1588008066
NM_000136.3(FANCC):c.1627T>C (p.Ser543Pro) rs1303872874
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys) rs864622417
NM_000136.3(FANCC):c.1628C>T (p.Ser543Leu)
NM_000136.3(FANCC):c.1631A>G (p.Glu544Gly)
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val) rs2071083777
NM_000136.3(FANCC):c.1640C>T (p.Ala547Val) rs2071083482
NM_000136.3(FANCC):c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys) rs1588007941
NM_000136.3(FANCC):c.1643G>T (p.Arg548Leu)
NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)
NM_000136.3(FANCC):c.164T>C (p.Met55Thr) rs1060502513
NM_000136.3(FANCC):c.165+5G>T
NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln) rs2071082816
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg) rs1197938479
NM_000136.3(FANCC):c.166-3C>T rs1554857868
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.167A>T (p.Asp56Val) rs759662786
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser) rs1831061339
NM_000136.3(FANCC):c.17T>G (p.Val6Gly) rs527289778
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr) rs1588350373
NM_000136.3(FANCC):c.189A>T (p.Arg63Ser) rs773388565
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile) rs762234072
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) rs777111154
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe) rs2136091002
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser) rs567465885
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu)
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys) rs876661132
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala) rs2136090802
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro) rs752249253
NM_000136.3(FANCC):c.246A>G (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser) rs2136049598
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile) rs2136049561
NM_000136.3(FANCC):c.273A>G (p.Ile91Met)
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
NM_000136.3(FANCC):c.292A>G (p.Ile98Val)
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr) rs1830583670
NM_000136.3(FANCC):c.328C>G (p.Leu110Val) rs1554856102
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
NM_000136.3(FANCC):c.340A>G (p.Ile114Val) rs1830580247
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu) rs1830580247
NM_000136.3(FANCC):c.345+3A>G
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg) rs1440493340
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del) rs1825723799
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp) rs766173332
NM_000136.3(FANCC):c.34_36del (p.Tyr12del) rs1554858333
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys) rs762884109
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) rs374602991
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro) rs2135588560
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg) rs199968672
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) rs1419677503
NM_000136.3(FANCC):c.391G>A (p.Val131Ile) rs543546719
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.422C>T (p.Ala141Val) rs2135587894
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala) rs864622581
NM_000136.3(FANCC):c.425C>A (p.Pro142His) rs1064793605
NM_000136.3(FANCC):c.430G>T (p.Asp144Tyr) rs2135587786
NM_000136.3(FANCC):c.432T>G (p.Asp144Glu) rs1825715851
NM_000136.3(FANCC):c.433T>C (p.Tyr145His) rs751054264
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser) rs1564720359
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr) rs1564720334
NM_000136.3(FANCC):c.439C>G (p.Pro147Ala)
NM_000136.3(FANCC):c.456+6T>C
NM_000136.3(FANCC):c.457-10del rs763416214
NM_000136.3(FANCC):c.457-16T>A
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile) rs1825652301
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser) rs200828924
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr) rs1825650685
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser) rs749322338
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro)
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala) rs1554842592
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu) rs769998628
NM_000136.3(FANCC):c.516A>G (p.Gln172=) rs748322179
NM_000136.3(FANCC):c.521+5G>A rs1301899973
NM_000136.3(FANCC):c.521+5del rs2135578132
NM_000136.3(FANCC):c.522-16_522-14del
NM_000136.3(FANCC):c.523A>G (p.Met175Val) rs876661083
NM_000136.3(FANCC):c.529C>T (p.Pro177Ser)
NM_000136.3(FANCC):c.534G>C (p.Glu178Asp) rs776694218
NM_000136.3(FANCC):c.53A>C (p.Lys18Thr) rs2136101612
NM_000136.3(FANCC):c.540_557del (p.Ala181_Val186del)
NM_000136.3(FANCC):c.547C>G (p.Leu183Val)
NM_000136.3(FANCC):c.556G>A (p.Val186Ile) rs730881713
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr) rs1239389302
NM_000136.3(FANCC):c.565C>A (p.Pro189Thr) rs377620735
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe) rs1800364
NM_000136.3(FANCC):c.576C>G (p.Thr192=)
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly) rs1800365
NM_000136.3(FANCC):c.585T>G (p.Asp195Glu) rs2135427899
NM_000136.3(FANCC):c.586G>A (p.Val196Ile)
NM_000136.3(FANCC):c.590A>T (p.Asp197Val) rs1064793625
NM_000136.3(FANCC):c.591C>A (p.Asp197Glu)
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu) rs1457631500
NM_000136.3(FANCC):c.592C>A (p.Pro198Thr)
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) rs143213659
NM_000136.3(FANCC):c.599T>A (p.Val200Glu) rs2135427579
NM_000136.3(FANCC):c.603G>T (p.Glu201Asp) rs1060502516
NM_000136.3(FANCC):c.607C>T (p.Leu203Phe) rs878853672
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe) rs1830064754
NM_000136.3(FANCC):c.61G>C (p.Val21Leu) rs772386467
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu) rs140781259
NM_000136.3(FANCC):c.641T>A (p.Ile214Asn)
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe) rs1269365165
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys) rs1012529150
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp) rs1830058618
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys) rs374176091
NM_000136.3(FANCC):c.676G>A (p.Ala226Thr)
NM_000136.3(FANCC):c.677C>T (p.Ala226Val) rs1166491683
NM_000136.3(FANCC):c.683T>C (p.Leu228Ser) rs2135426128
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)
NM_000136.3(FANCC):c.687G>A (p.Leu229=) rs864622527
NM_000136.3(FANCC):c.689AGA[1] (p.Lys231del) rs3831244
NM_000136.3(FANCC):c.700C>G (p.Leu234Val) rs1827537458
NM_000136.3(FANCC):c.704C>G (p.Pro235Arg)
NM_000136.3(FANCC):c.706A>C (p.Met236Leu) rs771319430
NM_000136.3(FANCC):c.707T>C (p.Met236Thr)
NM_000136.3(FANCC):c.718G>A (p.Val240Ile) rs866787972
NM_000136.3(FANCC):c.733C>G (p.Arg245Gly)
NM_000136.3(FANCC):c.742C>T (p.Pro248Ser)
NM_000136.3(FANCC):c.743C>G (p.Pro248Arg)
NM_000136.3(FANCC):c.748C>T (p.Leu250Phe) rs778966663
NM_000136.3(FANCC):c.749T>C (p.Leu250Pro) rs1827530053
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.764T>C (p.Leu255Pro) rs767634640
NM_000136.3(FANCC):c.773T>C (p.Phe258Ser)
NM_000136.3(FANCC):c.778A>G (p.Lys260Glu) rs1282238372
NM_000136.3(FANCC):c.797G>A (p.Arg266Lys)
NM_000136.3(FANCC):c.803G>A (p.Cys268Tyr) rs2135165898
NM_000136.3(FANCC):c.80C>G (p.Thr27Ser) rs1489419613
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile) rs1489419613
NM_000136.3(FANCC):c.811A>G (p.Arg271Gly) rs2135165709
NM_000136.3(FANCC):c.812G>C (p.Arg271Thr)
NM_000136.3(FANCC):c.813G>T (p.Arg271Ser) rs2135165634
NM_000136.3(FANCC):c.814A>G (p.Ile272Val)
NM_000136.3(FANCC):c.815T>G (p.Ile272Ser) rs1827523728
NM_000136.3(FANCC):c.816C>G (p.Ile272Met) rs55719336
NM_000136.3(FANCC):c.820T>A (p.Cys274Ser) rs1040503080
NM_000136.3(FANCC):c.821G>T (p.Cys274Phe) rs2135165383
NM_000136.3(FANCC):c.827T>C (p.Ile276Thr)
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro) rs1588134159
NM_000136.3(FANCC):c.843+5G>T rs369082921
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.844-6T>G rs1417324884
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys) rs1564667865
NM_000136.3(FANCC):c.849A>G (p.Gln283=) rs2134968632
NM_000136.3(FANCC):c.854C>G (p.Ala285Gly)
NM_000136.3(FANCC):c.857G>A (p.Cys286Tyr)
NM_000136.3(FANCC):c.862C>T (p.Pro288Ser) rs1588106749
NM_000136.3(FANCC):c.866C>T (p.Ala289Val) rs777732881
NM_000136.3(FANCC):c.874C>T (p.Arg292Trp) rs1306075116
NM_000136.3(FANCC):c.875G>C (p.Arg292Pro) rs747060782
NM_000136.3(FANCC):c.880G>A (p.Val294Ile)
NM_000136.3(FANCC):c.887A>G (p.Glu296Gly) rs2134967462
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.3(FANCC):c.896+5A>T rs1826005529
NM_000136.3(FANCC):c.897-12T>G
NM_000136.3(FANCC):c.897G>A (p.Arg299=) rs759083348
NM_000136.3(FANCC):c.897G>C (p.Arg299Ser)
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000136.3(FANCC):c.900T>G (p.Cys300Trp) rs2134924997
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr) rs972738983
NM_000136.3(FANCC):c.902C>T (p.Ala301Val) rs553689536
NM_000136.3(FANCC):c.911A>C (p.Glu304Ala)
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala) rs1397912085
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu) rs1564665867
NM_000136.3(FANCC):c.922G>A (p.Ala308Thr)
NM_000136.3(FANCC):c.938C>T (p.Ala313Val) rs730881712
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000136.3(FANCC):c.948G>C (p.Gln316His) rs1554832851
NM_000136.3(FANCC):c.956C>A (p.Thr319Lys)
NM_000136.3(FANCC):c.967G>A (p.Val323Ile) rs730881720
NM_000136.3(FANCC):c.972A>C (p.Glu324Asp) rs1261385032
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg) rs756408779
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg) rs781746980
NM_000136.3(FANCC):c.996+9T>A rs757984397
NM_000136.3(FANCC):c.997-3C>T rs878853674
NM_000138.5(FBN1):c.6170G>A (p.Arg2057Gln) rs181032147
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*1240A>C rs1403038230
NM_000141.5(FGFR2):c.*1283C>G rs1844298421
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*256G>A rs763095219
NM_000141.5(FGFR2):c.-108C>T rs540720034
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.-590G>C rs1221108798
NM_000141.5(FGFR2):c.-603C>T rs1863754113
NM_000141.5(FGFR2):c.1085-6A>G rs2134232051
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=) rs1849564914
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1485G>T (p.Val495=) rs1362401352
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1700C>T (p.Ala567Val) rs2133943742
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.1960A>G (p.Ile654Val) rs747718232
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg) rs1845557012
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln) rs1589713974
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly) rs1458081920
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_000141.5(FGFR2):c.625-8C>T rs1853240523
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser) rs1863017903
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1519G>A (p.Val507Met) rs1560437651
NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu) rs1721801068
NM_000142.5(FGFR3):c.1921_1922delinsAT (p.Asp641Ile) rs1721879424
NM_000142.5(FGFR3):c.1922A>T (p.Asp641Val) rs1721879680
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala) rs369232922
NM_000142.5(FGFR3):c.797T>C (p.Val266Ala)
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) rs1721503041
NM_000192.3(TBX5):c.-107T>C rs947021363
NM_000192.3(TBX5):c.-347C>G rs886049000
NM_000192.3(TBX5):c.-42G>A rs1287268402
NM_000192.3(TBX5):c.-487G>A rs1872352803
NM_000192.3(TBX5):c.-637G>A rs886049001
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000264.5(PTCH1):c.1347+6G>T rs372655486
NM_000316.3(PTH1R):c.-64C>A rs2030528606
NM_000316.3(PTH1R):c.1050-3dup rs754628395
NM_000316.3(PTH1R):c.1291G>A (p.Glu431Lys)
NM_000316.3(PTH1R):c.1330G>A (p.Glu444Lys) rs2032196022
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys) rs1683106396
NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly) rs1575526869
NM_000316.3(PTH1R):c.1732C>T (p.Pro578Ser) rs2032267228
NM_000316.3(PTH1R):c.408T>C (p.Tyr136=) rs2031851380
NM_000316.3(PTH1R):c.449G>A (p.Arg150His) rs73067029
NM_000316.3(PTH1R):c.449G>T (p.Arg150Leu) rs73067029
NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) rs762939698
NM_000316.3(PTH1R):c.617T>C (p.Val206Ala) rs2031894011
NM_000316.3(PTH1R):c.638+11C>A rs1172297627
NM_000316.3(PTH1R):c.638+7G>A rs886058584
NM_000316.3(PTH1R):c.827C>T (p.Ala276Val) rs2031934502
NM_000346.4(SOX9):c.*1164del rs886053360
NM_000346.4(SOX9):c.*1167del rs886053361
NM_000346.4(SOX9):c.*1183del rs796896836
NM_000346.4(SOX9):c.*1523_*1528del rs886053362
NM_000346.4(SOX9):c.*1988_*1989del rs11448561
NM_000346.4(SOX9):c.*1989dup rs11448561
NM_000346.4(SOX9):c.*744dup rs572140615
NM_000346.4(SOX9):c.*932_*933del rs755085270
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.1060C>T (p.Pro354Ser)
NM_000346.4(SOX9):c.1061_1069dup (p.Pro356_Gln357insProAlaPro)
NM_000346.4(SOX9):c.1067C>T (p.Pro356Leu)
NM_000346.4(SOX9):c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)
NM_000346.4(SOX9):c.1076C>A (p.Pro359His) rs1908196558
NM_000346.4(SOX9):c.1080_1100del (p.Pro362_Gln368del) rs772713612
NM_000346.4(SOX9):c.1096C>T (p.Pro366Ser)
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1]) rs753262382
NM_000346.4(SOX9):c.1110_1130del (p.364AAPPQQP[1])
NM_000346.4(SOX9):c.1112C>T (p.Ala371Val)
NM_000346.4(SOX9):c.1126C>G (p.Gln376Glu) rs2143254472
NM_000346.4(SOX9):c.1148_1156del (p.Thr383_Leu385del)
NM_000346.4(SOX9):c.1196C>T (p.Thr399Met)
NM_000346.4(SOX9):c.1227GCA[5] (p.Gln412_His413insGln)
NM_000346.4(SOX9):c.1285A>G (p.Ser429Gly)
NM_000346.4(SOX9):c.1353C>A (p.Tyr451Ter) rs2143257122
NM_000346.4(SOX9):c.1381G>A (p.Gly461Ser)
NM_000346.4(SOX9):c.1394C>G (p.Thr465Ser)
NM_000346.4(SOX9):c.140G>A (p.Arg47Gln)
NM_000346.4(SOX9):c.1433C>T (p.Thr478Ile) rs2143257987
NM_000346.4(SOX9):c.1525C>T (p.Pro509Ser)
NM_000346.4(SOX9):c.15C>G (p.Asp5Glu)
NM_000346.4(SOX9):c.241C>G (p.Leu81Val)
NM_000346.4(SOX9):c.253G>C (p.Asp85His)
NM_000346.4(SOX9):c.268C>T (p.Pro90Ser)
NM_000346.4(SOX9):c.273G>T (p.Met91Ile)
NM_000346.4(SOX9):c.340G>C (p.Val114Leu) rs2143240123
NM_000346.4(SOX9):c.341T>C (p.Val114Ala)
NM_000346.4(SOX9):c.346G>A (p.Ala116Thr)
NM_000346.4(SOX9):c.347C>T (p.Ala116Val) rs2143240212
NM_000346.4(SOX9):c.356C>A (p.Ala119Glu) rs886043537
NM_000346.4(SOX9):c.375C>G (p.Asp125Glu)
NM_000346.4(SOX9):c.432-6del
NM_000346.4(SOX9):c.434T>A (p.Leu145His)
NM_000346.4(SOX9):c.436C>G (p.Leu146Val) rs2143244977
NM_000346.4(SOX9):c.440A>C (p.Asn147Thr)
NM_000346.4(SOX9):c.442G>C (p.Glu148Gln)
NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)
NM_000346.4(SOX9):c.484C>T (p.Arg162Cys)
NM_000346.4(SOX9):c.502G>T (p.Asp168Tyr) rs2143245759
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000346.4(SOX9):c.53T>C (p.Leu18Pro)
NM_000346.4(SOX9):c.56C>T (p.Ser19Phe)
NM_000346.4(SOX9):c.592A>G (p.Ile198Val)
NM_000346.4(SOX9):c.596C>T (p.Ser199Phe) rs762685531
NM_000346.4(SOX9):c.605C>G (p.Ala202Gly) rs2143246698
NM_000346.4(SOX9):c.607A>T (p.Ile203Phe)
NM_000346.4(SOX9):c.610T>G (p.Phe204Val)
NM_000346.4(SOX9):c.629A>G (p.Asp210Gly)
NM_000346.4(SOX9):c.632C>T (p.Ser211Leu)
NM_000346.4(SOX9):c.640TCC[2] (p.Ser216del)
NM_000346.4(SOX9):c.649G>A (p.Gly217Ser)
NM_000346.4(SOX9):c.658G>A (p.Glu220Lys)
NM_000346.4(SOX9):c.676G>A (p.Glu226Lys)
NM_000346.4(SOX9):c.685+4dup
NM_000346.4(SOX9):c.685+7_685+8delinsTA
NM_000346.4(SOX9):c.686-3C>T
NM_000346.4(SOX9):c.704C>T (p.Pro235Leu) rs984877127
NM_000346.4(SOX9):c.710dup (p.Pro238fs) rs1567911132
NM_000346.4(SOX9):c.740C>T (p.Pro247Leu)
NM_000346.4(SOX9):c.755T>C (p.Leu252Pro)
NM_000346.4(SOX9):c.772C>T (p.Pro258Ser)
NM_000346.4(SOX9):c.77T>A (p.Met26Lys)
NM_000346.4(SOX9):c.782A>C (p.Glu261Ala)
NM_000346.4(SOX9):c.783G>C (p.Glu261Asp) rs751690259
NM_000346.4(SOX9):c.785G>T (p.Gly262Val)
NM_000346.4(SOX9):c.788G>T (p.Gly263Val)
NM_000346.4(SOX9):c.797C>T (p.Pro266Leu)
NM_000346.4(SOX9):c.811C>G (p.Arg271Gly)
NM_000346.4(SOX9):c.844G>A (p.Val282Ile) rs2143251516
NM_000346.4(SOX9):c.868G>C (p.Asp290His)
NM_000346.4(SOX9):c.902A>G (p.Asn301Ser)
NM_000346.4(SOX9):c.904G>A (p.Gly302Ser)
NM_000346.4(SOX9):c.920C>T (p.Pro307Leu)
NM_000346.4(SOX9):c.935A>G (p.Gln312Arg) rs1908187199
NM_000346.4(SOX9):c.947C>T (p.Thr316Met)
NM_000346.4(SOX9):c.971C>T (p.Thr324Ile)
NM_000346.4(SOX9):c.989G>C (p.Ser330Thr)
NM_000393.5(COL5A2):c.4174C>A (p.Leu1392Ile) rs748999143
NM_000396.4(CTSK):c.*461C>A rs200974564
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del) rs750595350
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del) rs1553197476
NM_000396.4(CTSK):c.243+4A>G rs2101953449
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949
NM_000396.4(CTSK):c.490C>A (p.Pro164Thr) rs886045274
NM_000396.4(CTSK):c.503T>C (p.Val168Ala) rs1309902734
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp) rs747914097
NM_000396.4(CTSK):c.606A>G (p.Pro202=) rs1654040742
NM_000396.4(CTSK):c.633G>A (p.Met211Ile)
NM_000396.4(CTSK):c.637_639del (p.Asn213del)
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly) rs770343722
NM_000396.4(CTSK):c.884A>C (p.Lys295Thr) rs2101947591
NM_000396.4(CTSK):c.890+6G>A rs886045273
NM_000451.4(SHOX):c.389A>C (p.Asn130Thr) rs2052712369
NM_000451.4(SHOX):c.38A>G (p.Asp13Gly) rs1334507288
NM_000451.4(SHOX):c.463G>T (p.Gly155Trp) rs765251991
NM_000451.4(SHOX):c.547G>C (p.Val183Leu)
NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup) rs747349135
NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3]) rs752208304
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) rs137852559
NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val) rs1788590971
NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) rs1051003265
NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)
NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)
NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup) rs754552080
NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del) rs544465774
NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)
NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup) rs750238627
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup) rs1554442039
NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del) rs772470139
NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)
NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)
NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)
NM_000474.4(TWIST1):c.325C>G (p.Gln109Glu)
NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) rs1585617188
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) rs1554442021
NM_000474.4(TWIST1):c.359G>A (p.Arg120His)
NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro) rs1788582586
NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro) rs1554442008
NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)
NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) rs1554441992
NM_000474.4(TWIST1):c.405C>G (p.Ile135Met) rs757121861
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr) rs1585616989
NM_000474.4(TWIST1):c.406C>G (p.Pro136Ala)
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)
NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr) rs1788580225
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser) rs1788580225
NM_000474.4(TWIST1):c.451C>G (p.Leu151Val) rs2115396601
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro) rs1585616825
NM_000474.4(TWIST1):c.484del (p.Val162fs) rs1788579060
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) rs867957820
NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)
NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)
NM_000474.4(TWIST1):c.510dup (p.Lys171fs) rs2115396517
NM_000474.4(TWIST1):c.518del (p.Ala173fs) rs2115396502
NM_000474.4(TWIST1):c.530_537dup (p.His180fs) rs2115396467
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu) rs121909191
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)
NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)
NM_000478.6(ALPL):c.1232C>T (p.Thr411Ile) rs2148192417
NM_000493.4(COL10A1):c.*1145A>G rs1779023877
NM_000493.4(COL10A1):c.*292A>G rs1016161969
NM_000493.4(COL10A1):c.*324A>G rs922577505
NM_000493.4(COL10A1):c.*328del rs371155563
NM_000493.4(COL10A1):c.*328dup rs371155563
NM_000493.4(COL10A1):c.*52C>T rs1326936448
NM_000493.4(COL10A1):c.*674A>G rs886060988
NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp) rs1403393545
NM_000493.4(COL10A1):c.1255G>A (p.Gly419Ser) rs369941065
NM_000493.4(COL10A1):c.1267C>T (p.Pro423Ser) rs759211032
NM_000493.4(COL10A1):c.1472C>T (p.Pro491Leu)
NM_000493.4(COL10A1):c.1637T>A (p.Val546Glu) rs2114279867
NM_000493.4(COL10A1):c.1705A>G (p.Ile569Val) rs1779078261
NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter) rs1779066482
NM_000493.4(COL10A1):c.1952G>T (p.Trp651Leu)
NM_000493.4(COL10A1):c.460G>A (p.Val154Met) rs886060993
NM_000493.4(COL10A1):c.60T>C (p.Phe20=) rs777324834
NM_000493.4(COL10A1):c.721G>C (p.Gly241Arg)
NM_000493.4(COL10A1):c.80T>G (p.Met27Arg) rs1064583
NM_000493.4(COL10A1):c.865A>G (p.Ile289Val)
NM_000493.4(COL10A1):c.982G>A (p.Ala328Thr) rs762743318
NM_000522.5(HOXA13):c.175C>T (p.Pro59Ser) rs747262113
NM_000522.5(HOXA13):c.263G>A (p.Arg88His) rs1441311870
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000557.5(GDF5):c.-97T>C rs960967052
NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup) rs760180391
NM_000557.5(GDF5):c.1272C>G (p.Tyr424Ter) rs778394508
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372
NM_000875.5(IGF1R):c.580_581del (p.Lys194fs) rs1596214904
NM_000918.4(P4HB):c.1148A>T (p.Asp383Val) rs2038728463
NM_000918.4(P4HB):c.1153A>G (p.Lys385Glu)
NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)
NM_000918.4(P4HB):c.1453G>C (p.Glu485Gln)
NM_000918.4(P4HB):c.718T>C (p.Phe240Leu) rs1343072696
NM_000921.5(PDE3A):c.1903G>C (p.Asp635His)
NM_000921.5(PDE3A):c.507G>T (p.Gly169=)
NM_000935.2(PLOD2):c.-286G>T rs1005011385
NM_000935.2(PLOD2):c.-417A>G rs2032580118
NM_000935.2(PLOD2):c.-455C>T rs886058066
NM_000935.2(PLOD2):c.-478G>C rs886058067
NM_000942.4(PPIB):c.-118A>G rs886051327
NM_000942.4(PPIB):c.-91A>C rs544474028
NM_000942.4(PPIB):c.-92C>A rs376643972
NM_000942.4(PPIB):c.-92C>G rs376643972
NM_000942.4(PPIB):c.-92C>T rs376643972
NM_000942.4(PPIB):c.-98C>A rs527689470
NM_000942.5(PPIB):c.*190T>G rs113626158
NM_000942.5(PPIB):c.-12C>G rs572092561
NM_000942.5(PPIB):c.-8G>C rs757856817
NM_000942.5(PPIB):c.250-1G>A rs1219861826
NM_000942.5(PPIB):c.279C>T (p.Phe93=) rs886051323
NM_000942.5(PPIB):c.300C>A (p.Phe100Leu) rs1420928651
NM_000942.5(PPIB):c.399_401dup (p.Gly134dup) rs886039912
NM_000942.5(PPIB):c.444C>T (p.Asn148=) rs549542551
NM_000942.5(PPIB):c.57G>T (p.Ala19=) rs2081570846
NM_000942.5(PPIB):c.58G>T (p.Gly20Trp) rs886051324
NM_000942.5(PPIB):c.640G>T (p.Ala214Ser) rs759753798
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001006657.1(WDR35):c.*3299C>T rs1669790644
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
NM_001009994.3(RIPPLY2):c.40G>A (p.Ala14Thr)
NM_001011658.4(TRAPPC2):c.*1436C>T rs192328990
NM_001011658.4(TRAPPC2):c.*179A>T rs1057515796
NM_001011658.4(TRAPPC2):c.*2060G>A rs1057515788
NM_001011658.4(TRAPPC2):c.*243G>T rs1057515795
NM_001011658.4(TRAPPC2):c.*263dup rs1057515794
NM_001011658.4(TRAPPC2):c.*266_*267insT rs1057515793
NM_001011658.4(TRAPPC2):c.*465T>G rs780841342
NM_001011658.4(TRAPPC2):c.*522G>A rs2046249479
NM_001011658.4(TRAPPC2):c.*712A>G rs1276471670
NM_001011658.4(TRAPPC2):c.*949G>T rs2106707
NM_001011658.4(TRAPPC2):c.*950_*956dup rs57103709
NM_001011658.4(TRAPPC2):c.*956dup rs57103709
NM_001011658.4(TRAPPC2):c.*957_*958insTTTTTTT rs1057515790
NM_001011658.4(TRAPPC2):c.*989G>T rs1449359101
NM_001011658.4(TRAPPC2):c.-179G>C rs1057515797
NM_001011658.4(TRAPPC2):c.-19G>T
NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr) rs2046291142
NM_001011658.4(TRAPPC2):c.351del (p.Asn118fs)
NM_001013693.3(LDLRAD2):c.*1062G>T rs936423705
NM_001013693.3(LDLRAD2):c.*166G>C rs2097953957
NM_001013693.3(LDLRAD2):c.*197C>T rs886046025
NM_001013693.3(LDLRAD2):c.*1998A>T rs2152683273
NM_001013693.3(LDLRAD2):c.*2001C>G rs2152683279
NM_001013693.3(LDLRAD2):c.*2170G>A rs1459647807
NM_001013693.3(LDLRAD2):c.*551T>C rs1347707634
NM_001013693.3(LDLRAD2):c.*702G>T rs2097955662
NM_001013693.3(LDLRAD2):c.*797C>T rs1173808135
NM_001013693.3(LDLRAD2):c.*893C>G rs886046027
NM_001015880.2(PAPSS2):c.1007C>T (p.Ala336Val) rs1853673489
NM_001015880.2(PAPSS2):c.1036C>T (p.Arg346Cys)
NM_001015880.2(PAPSS2):c.1045C>T (p.Arg349Cys)
NM_001015880.2(PAPSS2):c.1063T>C (p.Cys355Arg)
NM_001015880.2(PAPSS2):c.1079A>T (p.His360Leu) rs1450000750
NM_001015880.2(PAPSS2):c.1087A>G (p.Met363Val)
NM_001015880.2(PAPSS2):c.1093A>G (p.Met365Val) rs757962903
NM_001015880.2(PAPSS2):c.1095G>A (p.Met365Ile) rs1431798357
NM_001015880.2(PAPSS2):c.1104G>T (p.Gly368=) rs749600726
NM_001015880.2(PAPSS2):c.1105G>T (p.Asp369Tyr) rs1227547346
NM_001015880.2(PAPSS2):c.1115T>C (p.Val372Ala)
NM_001015880.2(PAPSS2):c.1118G>A (p.Gly373Asp) rs1252910580
NM_001015880.2(PAPSS2):c.1157A>G (p.Asp386Gly)
NM_001015880.2(PAPSS2):c.1207A>G (p.Lys403Glu)
NM_001015880.2(PAPSS2):c.1225G>A (p.Ala409Thr) rs747603601
NM_001015880.2(PAPSS2):c.1246C>T (p.Arg416Cys)
NM_001015880.2(PAPSS2):c.1247G>A (p.Arg416His)
NM_001015880.2(PAPSS2):c.1286A>G (p.Asp429Gly)
NM_001015880.2(PAPSS2):c.1313G>A (p.Gly438Asp)
NM_001015880.2(PAPSS2):c.1322A>T (p.His441Leu)
NM_001015880.2(PAPSS2):c.1325C>G (p.Pro442Arg)
NM_001015880.2(PAPSS2):c.1351G>A (p.Gly451Ser)
NM_001015880.2(PAPSS2):c.1379T>C (p.Leu460Pro)
NM_001015880.2(PAPSS2):c.1387C>T (p.Arg463Trp)
NM_001015880.2(PAPSS2):c.1445TTG[1] (p.Val483del) rs2131731328
NM_001015880.2(PAPSS2):c.1492-3T>C
NM_001015880.2(PAPSS2):c.1497G>T (p.Gln499His) rs973627691
NM_001015880.2(PAPSS2):c.1541T>C (p.Ile514Thr)
NM_001015880.2(PAPSS2):c.1555C>A (p.Pro519Thr)
NM_001015880.2(PAPSS2):c.1601C>T (p.Pro534Leu)
NM_001015880.2(PAPSS2):c.1648G>C (p.Val550Leu) rs754748727
NM_001015880.2(PAPSS2):c.1683C>G (p.Asn561Lys) rs1395668049
NM_001015880.2(PAPSS2):c.1687G>A (p.Ala563Thr) rs1415011667
NM_001015880.2(PAPSS2):c.1709A>G (p.Tyr570Cys)
NM_001015880.2(PAPSS2):c.1714C>A (p.Pro572Thr)
NM_001015880.2(PAPSS2):c.1721+5G>A
NM_001015880.2(PAPSS2):c.1722-9del rs759667926
NM_001015880.2(PAPSS2):c.1741A>C (p.Ile581Leu)
NM_001015880.2(PAPSS2):c.1775A>C (p.Glu592Ala) rs2131732875
NM_001015880.2(PAPSS2):c.1790del (p.Pro597fs) rs1853931929
NM_001015880.2(PAPSS2):c.1831_1834del (p.Asp611fs) rs2131732948
NM_001015880.2(PAPSS2):c.1849_1851del (p.Glu617del) rs563421338
NM_001015880.2(PAPSS2):c.193T>C (p.Tyr65His) rs543593301
NM_001015880.2(PAPSS2):c.336T>A (p.Asp112Glu) rs2131934926
NM_001015880.2(PAPSS2):c.35A>G (p.Gln12Arg)
NM_001015880.2(PAPSS2):c.37C>G (p.Gln13Glu)
NM_001015880.2(PAPSS2):c.381+3A>G rs773039134
NM_001015880.2(PAPSS2):c.381+3A>T rs773039134
NM_001015880.2(PAPSS2):c.397C>T (p.Arg133Cys)
NM_001015880.2(PAPSS2):c.398G>T (p.Arg133Leu)
NM_001015880.2(PAPSS2):c.409G>A (p.Glu137Lys)
NM_001015880.2(PAPSS2):c.416C>T (p.Ala139Val)
NM_001015880.2(PAPSS2):c.429_431del (p.Phe144del)
NM_001015880.2(PAPSS2):c.440T>C (p.Phe147Ser) rs368164378
NM_001015880.2(PAPSS2):c.451C>T (p.Pro151Ser)
NM_001015880.2(PAPSS2):c.49A>G (p.Asn17Asp)
NM_001015880.2(PAPSS2):c.527C>T (p.Thr176Ile) rs754474933
NM_001015880.2(PAPSS2):c.547G>A (p.Glu183Lys) rs774709274
NM_001015880.2(PAPSS2):c.640-17A>G
NM_001015880.2(PAPSS2):c.683T>C (p.Phe228Ser) rs2131711213
NM_001015880.2(PAPSS2):c.689C>G (p.Pro230Arg) rs543748195
NM_001015880.2(PAPSS2):c.709G>A (p.Val237Ile)
NM_001015880.2(PAPSS2):c.814A>T (p.Met272Leu)
NM_001015880.2(PAPSS2):c.880+3A>G
NM_001015880.2(PAPSS2):c.914T>G (p.Leu305Arg) rs2131720625
NM_001015880.2(PAPSS2):c.940C>T (p.Arg314Trp)
NM_001015880.2(PAPSS2):c.955A>G (p.Ser319Gly)
NM_001015880.2(PAPSS2):c.982C>T (p.Arg328Trp)
NM_001018113.3(FANCB):c.-191-13C>T rs2147458807
NM_001018113.3(FANCB):c.-219G>T rs373175926
NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)
NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg) rs2147429068
NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu)
NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile) rs2092436307
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
NM_001018113.3(FANCB):c.1105-4T>C rs2147425181
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) rs2147425036
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) rs1569088991
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
NM_001018113.3(FANCB):c.1198-3C>T
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) rs2147447859
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile) rs1018343095
NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del)
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.131A>C (p.His44Pro) rs2092464968
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala) rs2092408275
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) rs867778700
NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr) rs1601985554
NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)
NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu)
NM_001018113.3(FANCB):c.1407A>G (p.Gln469=) rs2092396901
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) rs2092396657
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala) rs1601985311
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) rs993307430
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) rs993307430
NM_001018113.3(FANCB):c.1497G>T (p.Leu499=)
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val) rs2147391420
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) rs1555904475
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) rs1555904458
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg) rs2147391147
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) rs868761818
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) rs2092370985
NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe)
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala) rs1569083698
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile) rs2092370867
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr) rs5935815
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro) rs2092370560
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg)
NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)
NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)
NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala)
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=) rs2147390430
NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser)
NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr)
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His)
NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile) rs2092369531
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) rs2092368698
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)
NM_001018113.3(FANCB):c.2020G>A (p.Val674Met)
NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu) rs2092368233
NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala)
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) rs1601977531
NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr)
NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg) rs2147447567
NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys) rs2147389460
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)
NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter) rs1601977510
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser) rs2092367669
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) rs1060501875
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys) rs868748586
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met) rs2092367373
NM_001018113.3(FANCB):c.2165+2T>G rs2147389062
NM_001018113.3(FANCB):c.2165+6G>A
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser) rs1300715683
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg)
NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del)
NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) rs2092364017
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val)
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val) rs776505971
NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr)
NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met) rs1326031344
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val)
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) rs2147386876
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) rs2092363086
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr) rs2147386628
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser) rs748392793
NM_001018113.3(FANCB):c.245T>C (p.Val82Ala) rs2147447420
NM_001018113.3(FANCB):c.2467A>G (p.Met823Val)
NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val) rs1601976122
NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys) rs201436396
NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu) rs759020755
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu) rs2092464184
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile)
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)
NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)
NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr)
NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr)
NM_001018113.3(FANCB):c.439G>A (p.Val147Ile)
NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr)
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu) rs2092463362
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg) rs2147446679
NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp)
NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)
NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe)
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val) rs138251388
NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe)
NM_001018113.3(FANCB):c.554G>T (p.Gly185Val)
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr) rs2147446437
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala) rs2092462421
NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu) rs2147446219
NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys)
NM_001018113.3(FANCB):c.64G>A (p.Val22Ile)
NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg)
NM_001018113.3(FANCB):c.664G>A (p.Val222Ile) rs2147446099
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) rs1555907444
NM_001018113.3(FANCB):c.722A>G (p.His241Arg) rs2147445804
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) rs2092461325
NM_001018113.3(FANCB):c.834G>C (p.Gln278His) rs1569092087
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) rs1456143136
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
NM_001018115.3(FANCD2):c.1009A>T (p.Ser337Cys)
NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu) rs1394658178
NM_001018115.3(FANCD2):c.1016G>A (p.Gly339Asp) rs1575749612
NM_001018115.3(FANCD2):c.1018C>G (p.Gln340Glu)
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del) rs1158786668
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro) rs773847165
NM_001018115.3(FANCD2):c.107A>G (p.His36Arg) rs2124970667
NM_001018115.3(FANCD2):c.1088C>G (p.Ala363Gly)
NM_001018115.3(FANCD2):c.1091G>C (p.Trp364Ser) rs2086921184
NM_001018115.3(FANCD2):c.1098+4A>G rs664233
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala) rs1006403887
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser) rs765339192
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys) rs2086637443
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val) rs753223864
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln) rs370522983
NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
NM_001018115.3(FANCD2):c.1278+2dup rs1553608861
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001018115.3(FANCD2):c.1279-3A>T rs1354341272
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile) rs529893298
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr) rs549790164
NM_001018115.3(FANCD2):c.1349T>G (p.Ile450Arg) rs549790164
NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)
NM_001018115.3(FANCD2):c.1413+2T>A rs1459222478
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val) rs2087129096
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg) rs2087129366
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly) rs780343756
NM_001018115.3(FANCD2):c.1487T>G (p.Leu496Arg) rs2125006396
NM_001018115.3(FANCD2):c.1547G>T (p.Gly516Val)
NM_001018115.3(FANCD2):c.1549A>G (p.Ile517Val) rs2087243822
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr) rs1221998060
NM_001018115.3(FANCD2):c.1555G>A (p.Asp519Asn) rs780491203
NM_001018115.3(FANCD2):c.1555G>C (p.Asp519His)
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=) rs2087245604
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.1604T>C (p.Val535Ala) rs2125011965
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser) rs765324038
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
NM_001018115.3(FANCD2):c.1657-5T>G rs2125026589
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg) rs1232065920
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr) rs2087530880
NM_001018115.3(FANCD2):c.1753A>G (p.Met585Val)
NM_001018115.3(FANCD2):c.1759G>A (p.Ala587Thr) rs1553610798
NM_001018115.3(FANCD2):c.1766+4C>G
NM_001018115.3(FANCD2):c.1766+4C>T
NM_001018115.3(FANCD2):c.1796G>A (p.Arg599Lys) rs1575787379
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile) rs955122662
NM_001018115.3(FANCD2):c.1807A>C (p.Ser603Arg)
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg) rs750353000
NM_001018115.3(FANCD2):c.1947+3A>G
NM_001018115.3(FANCD2):c.1947+6G>A
NM_001018115.3(FANCD2):c.1947G>A (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1947G>C (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile) rs1381447946
NM_001018115.3(FANCD2):c.1954G>C (p.Val652Leu) rs1381447946
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
NM_001018115.3(FANCD2):c.2003C>T (p.Ser668Phe)
NM_001018115.3(FANCD2):c.2006G>C (p.Cys669Ser)
NM_001018115.3(FANCD2):c.2014C>A (p.Pro672Thr)
NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu) rs754258198
NM_001018115.3(FANCD2):c.2019A>T (p.Glu673Asp) rs2125034174
NM_001018115.3(FANCD2):c.2020G>A (p.Gly674Ser)
NM_001018115.3(FANCD2):c.2021+5G>A rs1243372102
NM_001018115.3(FANCD2):c.2022-5C>A
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) rs2087667280
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
NM_001018115.3(FANCD2):c.205+4_205+6del
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr) rs2125035150
NM_001018115.3(FANCD2):c.2083A>C (p.Ile695Leu) rs2125035169
NM_001018115.3(FANCD2):c.2087C>T (p.Ala696Val) rs2087669561
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
NM_001018115.3(FANCD2):c.2168+5G>C rs1237529867
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr) rs1168778380
NM_001018115.3(FANCD2):c.2178T>C (p.Ser726=) rs761465333
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met) rs2124974577
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
NM_001018115.3(FANCD2):c.2218T>C (p.Cys740Arg) rs368885711
NM_001018115.3(FANCD2):c.2219G>T (p.Cys740Phe)
NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)
NM_001018115.3(FANCD2):c.2221G>A (p.Val741Met)
NM_001018115.3(FANCD2):c.2224G>A (p.Glu742Lys)
NM_001018115.3(FANCD2):c.2246T>G (p.Leu749Trp) rs1426222284
NM_001018115.3(FANCD2):c.2251G>A (p.Glu751Lys) rs1559389326
NM_001018115.3(FANCD2):c.2252A>C (p.Glu751Ala)
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu) rs758628578
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu) rs2087705679
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His) rs377083479
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val) rs779740652
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met) rs2087707764
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
NM_001018115.3(FANCD2):c.2385+6C>T
NM_001018115.3(FANCD2):c.2386-5T>C
NM_001018115.3(FANCD2):c.2386A>C (p.Ile796Leu)
NM_001018115.3(FANCD2):c.2387T>C (p.Ile796Thr)
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp) rs1193547837
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu) rs375415579
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val) rs2125039040
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
NM_001018115.3(FANCD2):c.2495-3C>A rs2125047914
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu) rs375827113
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del) rs1693335762
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_001018115.3(FANCD2):c.2584A>C (p.Ile862Leu)
NM_001018115.3(FANCD2):c.2593A>C (p.Lys865Gln)
NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2606-9A>G
NM_001018115.3(FANCD2):c.2609G>T (p.Arg870Met)
NM_001018115.3(FANCD2):c.2610G>C (p.Arg870Ser)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2621C>G (p.Thr874Arg)
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser) rs1693355244
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys) rs1693356065
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg) rs766865689
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu) rs1693428697
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met) rs1559370542
NM_001018115.3(FANCD2):c.2803A>G (p.Ile935Val) rs61751578
NM_001018115.3(FANCD2):c.2816G>C (p.Gly939Ala)
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_001018115.3(FANCD2):c.2833A>G (p.Ile945Val) rs1365150085
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
NM_001018115.3(FANCD2):c.2860G>T (p.Ala954Ser)
NM_001018115.3(FANCD2):c.2867_2869del (p.Glu956del) rs1693630743
NM_001018115.3(FANCD2):c.2869G>C (p.Val957Leu) rs762683227
NM_001018115.3(FANCD2):c.2882G>A (p.Gly961Glu)
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
NM_001018115.3(FANCD2):c.2932A>T (p.Ser978Cys)
NM_001018115.3(FANCD2):c.2933G>A (p.Ser978Asn)
NM_001018115.3(FANCD2):c.2937G>A (p.Met979Ile) rs779245007
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser) rs1051740558
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val) rs1575817874
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
NM_001018115.3(FANCD2):c.2977-14T>A rs2125059347
NM_001018115.3(FANCD2):c.2978A>G (p.Asn993Ser)
NM_001018115.3(FANCD2):c.2985A>T (p.Gly995=) rs1575823725
NM_001018115.3(FANCD2):c.2988C>A (p.Ser996Arg)
NM_001018115.3(FANCD2):c.2992A>T (p.Asn998Tyr)
NM_001018115.3(FANCD2):c.2995A>G (p.Ile999Val)
NM_001018115.3(FANCD2):c.3005C>T (p.Ser1002Leu)
NM_001018115.3(FANCD2):c.3014A>G (p.Gln1005Arg) rs964376104
NM_001018115.3(FANCD2):c.3020G>T (p.Arg1007Ile) rs901861823
NM_001018115.3(FANCD2):c.3043T>C (p.Cys1015Arg) rs2125059575
NM_001018115.3(FANCD2):c.3049T>G (p.Phe1017Val)
NM_001018115.3(FANCD2):c.3051T>A (p.Phe1017Leu)
NM_001018115.3(FANCD2):c.3075C>A (p.Asn1025Lys)
NM_001018115.3(FANCD2):c.3139G>A (p.Gly1047Arg) rs1693825081
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu) rs2125060028
NM_001018115.3(FANCD2):c.3155T>A (p.Val1052Asp)
NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg) rs1693827482
NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)
NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr) rs2125060186
NM_001018115.3(FANCD2):c.3208C>G (p.His1070Asp) rs201184977
NM_001018115.3(FANCD2):c.3208C>T (p.His1070Tyr)
NM_001018115.3(FANCD2):c.3209A>C (p.His1070Pro)
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg) rs759516610
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
NM_001018115.3(FANCD2):c.3306A>C (p.Glu1102Asp)
NM_001018115.3(FANCD2):c.3319T>G (p.Leu1107Val)
NM_001018115.3(FANCD2):c.3323A>G (p.Glu1108Gly)
NM_001018115.3(FANCD2):c.3325G>A (p.Glu1109Lys)
NM_001018115.3(FANCD2):c.3335+3G>A
NM_001018115.3(FANCD2):c.334A>C (p.Asn112His) rs2086689020
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_001018115.3(FANCD2):c.3355C>A (p.Gln1119Lys) rs1031970731
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)
NM_001018115.3(FANCD2):c.3462A>C (p.Lys1154Asn) rs1559403678
NM_001018115.3(FANCD2):c.3466+6G>A
NM_001018115.3(FANCD2):c.3467-3C>A rs1694370265
NM_001018115.3(FANCD2):c.3467-8T>G rs2125076487
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_001018115.3(FANCD2):c.3507T>G (p.Ser1169Arg) rs1373304921
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
NM_001018115.3(FANCD2):c.3533C>G (p.Ser1178Cys) rs1472283913
NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp) rs949980921
NM_001018115.3(FANCD2):c.3551C>A (p.Ala1184Asp)
NM_001018115.3(FANCD2):c.3565T>A (p.Tyr1189Asn) rs1273519317
NM_001018115.3(FANCD2):c.356G>C (p.Arg119Pro)
NM_001018115.3(FANCD2):c.3584G>C (p.Ser1195Thr)
NM_001018115.3(FANCD2):c.3586A>G (p.Ile1196Val) rs1339689117
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367
NM_001018115.3(FANCD2):c.3623T>A (p.Val1208Asp)
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser) rs941244378
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
NM_001018115.3(FANCD2):c.3683+5G>C
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
NM_001018115.3(FANCD2):c.3707G>T (p.Arg1236Leu)
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001018115.3(FANCD2):c.3716T>A (p.Met1239Lys) rs1694512844
NM_001018115.3(FANCD2):c.377+6G>A
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) rs1486214768
NM_001018115.3(FANCD2):c.3777+5G>A rs368999017
NM_001018115.3(FANCD2):c.378-3C>T rs74923817
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
NM_001018115.3(FANCD2):c.3793C>T (p.Leu1265Phe) rs749410557
NM_001018115.3(FANCD2):c.3793CTC[1] (p.Leu1266del) rs2125086057
NM_001018115.3(FANCD2):c.3802T>G (p.Trp1268Gly) rs1196009515
NM_001018115.3(FANCD2):c.383G>A (p.Gly128Asp) rs760551106
NM_001018115.3(FANCD2):c.3848A>G (p.Lys1283Arg) rs762148969
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
NM_001018115.3(FANCD2):c.3860G>C (p.Ser1287Thr)
NM_001018115.3(FANCD2):c.3869T>C (p.Val1290Ala) rs2125088623
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
NM_001018115.3(FANCD2):c.3888+5G>A
NM_001018115.3(FANCD2):c.3889-5_3889-3del rs2125090590
NM_001018115.3(FANCD2):c.3925T>G (p.Cys1309Gly)
NM_001018115.3(FANCD2):c.3934C>T (p.Leu1312Phe) rs2125090749
NM_001018115.3(FANCD2):c.3946A>C (p.Ser1316Arg)
NM_001018115.3(FANCD2):c.3958C>T (p.His1320Tyr) rs2125090799
NM_001018115.3(FANCD2):c.3962G>A (p.Arg1321Gln) rs147205530
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro) rs1559408827
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg) rs1348547984
NM_001018115.3(FANCD2):c.4105T>G (p.Cys1369Gly) rs995972011
NM_001018115.3(FANCD2):c.4106G>A (p.Cys1369Tyr)
NM_001018115.3(FANCD2):c.4112T>A (p.Val1371Asp) rs2125095439
NM_001018115.3(FANCD2):c.4120A>G (p.Met1374Val)
NM_001018115.3(FANCD2):c.4126A>G (p.Thr1376Ala)
NM_001018115.3(FANCD2):c.4128_4131dup (p.Asn1378fs)
NM_001018115.3(FANCD2):c.4132A>C (p.Asn1378His)
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=) rs752376206
NM_001018115.3(FANCD2):c.4138T>C (p.Cys1380Arg)
NM_001018115.3(FANCD2):c.4171A>C (p.Asn1391His) rs1694972063
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
NM_001018115.3(FANCD2):c.4185+5G>T rs2125095695
NM_001018115.3(FANCD2):c.4202C>T (p.Ser1401Phe)
NM_001018115.3(FANCD2):c.4210T>A (p.Ser1404Thr)
NM_001018115.3(FANCD2):c.4232A>C (p.Glu1411Ala) rs753252480
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln) rs1695131902
NM_001018115.3(FANCD2):c.4281+16C>T rs1695133266
NM_001018115.3(FANCD2):c.4281+1del
NM_001018115.3(FANCD2):c.4281+517A>C rs1695165243
NM_001018115.3(FANCD2):c.4281+543C>T rs540249462
NM_001018115.3(FANCD2):c.4281+65G>A
NM_001018115.3(FANCD2):c.4281+823A>G rs886057697
NM_001018115.3(FANCD2):c.4338T>G (p.Ser1446Arg) rs2125105648
NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn) rs150444770
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
NM_001018115.3(FANCD2):c.473C>G (p.Pro158Arg) rs2124978557
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu) rs2086730814
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
NM_001018115.3(FANCD2):c.531C>G (p.Val177=) rs747006885
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr) rs2086806903
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
NM_001018115.3(FANCD2):c.571-3C>G rs191386799
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn) rs1257501671
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val) rs2124985132
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro) rs769402896
NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val) rs2124985240
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu) rs1307143430
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
NM_001018115.3(FANCD2):c.695+5A>G
NM_001018115.3(FANCD2):c.695+6_695+11del rs2124985470
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly) rs999832070
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
NM_001018115.3(FANCD2):c.745C>T (p.Leu249Phe)
NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)
NM_001018115.3(FANCD2):c.758G>A (p.Arg253Gln)
NM_001018115.3(FANCD2):c.769A>G (p.Asn257Asp)
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
NM_001018115.3(FANCD2):c.783+6A>G
NM_001018115.3(FANCD2):c.784-3T>G rs2086891718
NM_001018115.3(FANCD2):c.784G>A (p.Val262Ile)
NM_001018115.3(FANCD2):c.787C>T (p.Arg263Cys)
NM_001018115.3(FANCD2):c.788G>A (p.Arg263His)
NM_001018115.3(FANCD2):c.796_798del (p.Val266del)
NM_001018115.3(FANCD2):c.799A>T (p.Met267Leu)
NM_001018115.3(FANCD2):c.803A>G (p.Asp268Gly)
NM_001018115.3(FANCD2):c.807G>C (p.Lys269Asn)
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del) rs748327074
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val) rs2124991389
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
NM_001018115.3(FANCD2):c.888+3A>G
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
NM_001018115.3(FANCD2):c.905G>A (p.Arg302Gln) rs755797932
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro) rs755797932
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val) rs1486958347
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
NM_001018115.3(FANCD2):c.929G>T (p.Cys310Phe) rs1251711461
NM_001018115.3(FANCD2):c.944G>A (p.Arg315Gln)
NM_001018115.3(FANCD2):c.950A>G (p.Gln317Arg)
NM_001018115.3(FANCD2):c.952G>A (p.Ala318Thr)
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
NM_001018115.3(FANCD2):c.973A>C (p.Ser325Arg) rs2124992404
NM_001018115.3(FANCD2):c.978A>C (p.Lys326Asn) rs200193941
NM_001018115.3(FANCD2):c.989+3A>G
NM_001024630.4(RUNX2):c.*1415G>T rs146749281
NM_001024630.4(RUNX2):c.*1455C>T rs886061501
NM_001024630.4(RUNX2):c.*1648T>C rs1802483250
NM_001024630.4(RUNX2):c.*1708T>C rs537488922
NM_001024630.4(RUNX2):c.*1816C>G rs1392275901
NM_001024630.4(RUNX2):c.*1876A>T rs1802492982
NM_001024630.4(RUNX2):c.*1917G>T rs1298048535
NM_001024630.4(RUNX2):c.*1948G>A rs961467252
NM_001024630.4(RUNX2):c.*2381C>T rs1017898446
NM_001024630.4(RUNX2):c.*2435T>C rs886061503
NM_001024630.4(RUNX2):c.*2689CTTT[2] rs886061505
NM_001024630.4(RUNX2):c.*2697del rs886061506
NM_001024630.4(RUNX2):c.*3543T>A rs1802544168
NM_001024630.4(RUNX2):c.*3605C>T rs562888619
NM_001024630.4(RUNX2):c.*549C>T rs1802451111
NM_001024630.4(RUNX2):c.*591del rs886061494
NM_001024630.4(RUNX2):c.*608T>C rs886061495
NM_001024630.4(RUNX2):c.*794T>C rs886061497
NM_001024630.4(RUNX2):c.*967T>C rs886061499
NM_001024630.4(RUNX2):c.1204C>T (p.Pro402Ser) rs1802417971
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) rs781355841
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) rs1554384228
NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) rs1338909353
NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser) rs754711247
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) rs1582095105
NM_001024630.4(RUNX2):c.400A>G (p.Lys134Glu)
NM_001024630.4(RUNX2):c.54T>C (p.Phe18=) rs1786871639
NM_001024630.4(RUNX2):c.685+5G>A rs1798738030
NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe) rs2150421317
NM_001024630.4(RUNX2):c.938C>A (p.Pro313Gln) rs535706340
NM_001025295.3(IFITM5):c.143A>G (p.Asn48Ser) rs2134037146
NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg) rs886037652
NM_001031725.6(DDX59):c.751T>C (p.Ser251Pro) rs1571655262
NM_001039958.2(MESP2):c.*132_*134dup rs3840032
NM_001039958.2(MESP2):c.*210C>G rs886051548
NM_001039958.2(MESP2):c.1017C>G (p.Pro339=) rs370227491
NM_001039958.2(MESP2):c.1017dup (p.Gly340fs) rs772586292
NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs) rs1481361626
NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs) rs1555439287
NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter) rs1420321324
NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del) rs543667424
NM_001039958.2(MESP2):c.157C>T (p.Gln53Ter)
NM_001039958.2(MESP2):c.189C>G (p.Ala63=) rs534821207
NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup) rs1468688261
NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)
NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg) rs1968366047
NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro) rs986299993
NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg) rs1377497655
NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro) rs1968366878
NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser) rs1968368157
NM_001039958.2(MESP2):c.378C>G (p.Arg126=) rs748816022
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala) rs1968372166
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001039958.2(MESP2):c.531_550del (p.Glu178fs) rs1567149313
NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11]) rs397507446
NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs) rs1555439104
NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala) rs764078106
NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu) rs776642665
NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7]) rs771492607
NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9]) rs750330966
NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12]) rs1555439121
NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr) rs781296717
NM_001039958.2(MESP2):c.640_643del (p.Val214fs) rs1468383573
NM_001039958.2(MESP2):c.718del (p.Val240fs) rs756232049
NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu) rs886051546
NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del) rs1555439163
NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs) rs1428605825
NM_001039958.2(MESP2):c.948_949del (p.Cys317fs) rs757634059
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter) rs1555439250
NM_001040167.2(LFNG):c.1005_1013dup (p.Phe337_Glu338insAspMetPhe)
NM_001040167.2(LFNG):c.1008G>A (p.Met336Ile)
NM_001040167.2(LFNG):c.1013A>T (p.Glu338Val) rs770620949
NM_001040167.2(LFNG):c.10C>G (p.Arg4Gly) rs1341252096
NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys)
NM_001040167.2(LFNG):c.112G>T (p.Gly38Cys)
NM_001040167.2(LFNG):c.131G>T (p.Ser44Ile) rs1369297768
NM_001040167.2(LFNG):c.137C>T (p.Ala46Val)
NM_001040167.2(LFNG):c.140G>A (p.Gly47Asp) rs1322872527
NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala)
NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val) rs1562551243
NM_001040167.2(LFNG):c.214C>T (p.His72Tyr) rs1779742939
NM_001040167.2(LFNG):c.245C>A (p.Thr82Asn) rs1405255261
NM_001040167.2(LFNG):c.271C>T (p.Pro91Ser)
NM_001040167.2(LFNG):c.299A>T (p.Asp100Val)
NM_001040167.2(LFNG):c.306C>A (p.His102Gln)
NM_001040167.2(LFNG):c.307C>G (p.Pro103Ala) rs778333281
NM_001040167.2(LFNG):c.334C>A (p.Pro112Thr)
NM_001040167.2(LFNG):c.41C>G (p.Ala14Gly)
NM_001040167.2(LFNG):c.434C>A (p.Thr145Lys) rs1413169361
NM_001040167.2(LFNG):c.46G>A (p.Ala16Thr) rs1779735531
NM_001040167.2(LFNG):c.508G>A (p.Ala170Thr)
NM_001040167.2(LFNG):c.566T>C (p.Ile189Thr) rs984175416
NM_001040167.2(LFNG):c.568G>A (p.Glu190Lys)
NM_001040167.2(LFNG):c.569A>T (p.Glu190Val)
NM_001040167.2(LFNG):c.620T>A (p.Leu207Gln)
NM_001040167.2(LFNG):c.659C>T (p.Thr220Met)
NM_001040167.2(LFNG):c.67G>T (p.Val23Leu) rs2128375068
NM_001040167.2(LFNG):c.716G>A (p.Arg239Gln)
NM_001040167.2(LFNG):c.761C>T (p.Thr254Met) rs2128377515
NM_001040167.2(LFNG):c.788G>A (p.Arg263His) rs201864741
NM_001040167.2(LFNG):c.788G>T (p.Arg263Leu) rs201864741
NM_001040167.2(LFNG):c.810C>A (p.Ser270Arg) rs764879786
NM_001040167.2(LFNG):c.822-19G>A
NM_001040167.2(LFNG):c.826G>C (p.Gly276Arg)
NM_001040167.2(LFNG):c.856C>T (p.Arg286Trp)
NM_001040167.2(LFNG):c.913C>T (p.Leu305Phe)
NM_001040167.2(LFNG):c.92C>T (p.Pro31Leu)
NM_001040167.2(LFNG):c.951C>A (p.Asn317Lys) rs1464471879
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492
NM_001104631.2(PDE4D):c.*1020_*1022dup rs886060711
NM_001104631.2(PDE4D):c.*1446T>C rs886060707
NM_001104631.2(PDE4D):c.*1729G>C rs751797196
NM_001104631.2(PDE4D):c.*1778T>C rs1580002684
NM_001104631.2(PDE4D):c.*2028TAGA[3] rs780381459
NM_001104631.2(PDE4D):c.*2185T>G rs1742786887
NM_001104631.2(PDE4D):c.*2198C>T rs1742783371
NM_001104631.2(PDE4D):c.*2225C>T rs1742779838
NM_001104631.2(PDE4D):c.*2841A>C rs1038876803
NM_001104631.2(PDE4D):c.*3028A>G rs1742609985
NM_001104631.2(PDE4D):c.*3165_*3166del rs760712576
NM_001104631.2(PDE4D):c.*3210A>G rs1742583103
NM_001104631.2(PDE4D):c.*3325T>C rs1742565588
NM_001104631.2(PDE4D):c.*33dup rs10718401
NM_001104631.2(PDE4D):c.*348_*351del rs35684984
NM_001104631.2(PDE4D):c.*3562T>C rs886060706
NM_001104631.2(PDE4D):c.*3754_*3755dup rs34128632
NM_001104631.2(PDE4D):c.*3844G>A rs886060705
NM_001104631.2(PDE4D):c.*4274ATTTT[4] rs766825126
NM_001104631.2(PDE4D):c.*4524C>T rs1742364726
NM_001104631.2(PDE4D):c.*4529C>T rs1742363826
NM_001104631.2(PDE4D):c.*4727C>G rs1742320588
NM_001104631.2(PDE4D):c.*5201G>A rs1742226834
NM_001104631.2(PDE4D):c.*5413G>C rs538935097
NM_001104631.2(PDE4D):c.*5545C>A rs886060700
NM_001104631.2(PDE4D):c.*582dup rs886060714
NM_001104631.2(PDE4D):c.1006A>G (p.Thr336Ala)
NM_001104631.2(PDE4D):c.1038T>G (p.Ile346Met)
NM_001104631.2(PDE4D):c.1189-9dup rs368587062
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro) rs1747740719
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val) rs1747451452
NM_001104631.2(PDE4D):c.1707+12A>C rs1744027001
NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln) rs1743815247
NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp) rs1743287865
NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu) rs1186516969
NM_001104631.2(PDE4D):c.430C>T (p.Pro144Ser)
NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe) rs2153344901
NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)
NM_001113378.2(FANCI):c.*614T>G rs886051521
NM_001113378.2(FANCI):c.*662C>G rs560246181
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile) rs1222471181
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu) rs1432524532
NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser)
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) rs770583031
NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
NM_001113378.2(FANCI):c.1064C>G (p.Pro355Arg)
NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)
NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)
NM_001113378.2(FANCI):c.1070G>T (p.Arg357Ile) rs2151453139
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) rs1429851841
NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu) rs2151453253
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1118A>G (p.His373Arg)
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe) rs1216132878
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr) rs1174812931
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu) rs2053427139
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
NM_001113378.2(FANCI):c.1221C>G (p.Ser407Arg) rs2151486786
NM_001113378.2(FANCI):c.1222C>A (p.Pro408Thr) rs1281730489
NM_001113378.2(FANCI):c.1222C>T (p.Pro408Ser)
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1294A>G (p.Ile432Val) rs1387369541
NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn) rs1222824065
NM_001113378.2(FANCI):c.1314A>T (p.Gln438His)
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
NM_001113378.2(FANCI):c.1330G>A (p.Val444Ile) rs1224560872
NM_001113378.2(FANCI):c.1333C>T (p.Leu445Phe) rs2053498951
NM_001113378.2(FANCI):c.1345G>A (p.Val449Ile)
NM_001113378.2(FANCI):c.1349C>A (p.Thr450Asn) rs1294189131
NM_001113378.2(FANCI):c.1349C>G (p.Thr450Ser)
NM_001113378.2(FANCI):c.1352G>C (p.Arg451Thr)
NM_001113378.2(FANCI):c.1354G>A (p.Ala452Thr)
NM_001113378.2(FANCI):c.1361C>G (p.Ser454Cys)
NM_001113378.2(FANCI):c.1363C>A (p.Pro455Thr) rs2151511659
NM_001113378.2(FANCI):c.1366A>C (p.Ile456Leu) rs757536456
NM_001113378.2(FANCI):c.1373A>G (p.His458Arg) rs2053499876
NM_001113378.2(FANCI):c.1374T>A (p.His458Gln) rs1183239990
NM_001113378.2(FANCI):c.1382-5T>C rs2151549574
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile) rs2053602523
NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr) rs2053602935
NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu)
NM_001113378.2(FANCI):c.1444A>G (p.Thr482Ala) rs1249221854
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro) rs2053603506
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro) rs2053603695
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg) rs1214081735
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys) rs1049036307
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His) rs145349375
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser) rs767830108
NM_001113378.2(FANCI):c.1512+5G>C rs2053605169
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=) rs377762481
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His) rs773105092
NM_001113378.2(FANCI):c.1517T>G (p.Leu506Arg) rs2151558457
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile) rs1011876937
NM_001113378.2(FANCI):c.1531A>C (p.Met511Leu) rs1596285157
NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)
NM_001113378.2(FANCI):c.1541G>A (p.Arg514Lys)
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly) rs2053624733
NM_001113378.2(FANCI):c.1550T>G (p.Leu517Trp)
NM_001113378.2(FANCI):c.1556T>C (p.Leu519Pro) rs998713167
NM_001113378.2(FANCI):c.1564C>A (p.Arg522=) rs371568506
NM_001113378.2(FANCI):c.158-5A>G
NM_001113378.2(FANCI):c.1583+142C>T rs2053631453
NM_001113378.2(FANCI):c.1583+3A>G rs2151559047
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr) rs2151559017
NM_001113378.2(FANCI):c.1626G>C (p.Leu542=)
NM_001113378.2(FANCI):c.1637A>G (p.Asn546Ser)
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu) rs2053681482
NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser)
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr) rs2053681603
NM_001113378.2(FANCI):c.1649T>C (p.Leu550Ser) rs2151580534
NM_001113378.2(FANCI):c.1654A>C (p.Ser552Arg) rs1060501899
NM_001113378.2(FANCI):c.1655G>A (p.Ser552Asn) rs1470686039
NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg)
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg) rs1060501901
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
NM_001113378.2(FANCI):c.1675A>C (p.Ser559Arg)
NM_001113378.2(FANCI):c.1675A>G (p.Ser559Gly)
NM_001113378.2(FANCI):c.1676G>T (p.Ser559Ile) rs1555446426
NM_001113378.2(FANCI):c.1698+4A>G rs1233338671
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro) rs555480773
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.2(FANCI):c.1708G>A (p.Asp570Asn)
NM_001113378.2(FANCI):c.1708G>C (p.Asp570His) rs2053765523
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn) rs2053765806
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
NM_001113378.2(FANCI):c.1822-3T>C rs978852872
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu) rs780853984
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe) rs2151689487
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) rs780031757
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
NM_001113378.2(FANCI):c.1863T>A (p.Asn621Lys)
NM_001113378.2(FANCI):c.1867G>A (p.Val623Ile) rs1174201813
NM_001113378.2(FANCI):c.1870A>G (p.Met624Val) rs772744597
NM_001113378.2(FANCI):c.1871T>C (p.Met624Thr) rs758191165
NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro) rs753059359
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln) rs751777082
NM_001113378.2(FANCI):c.1908_1909delinsAG (p.Pro637Ala)
NM_001113378.2(FANCI):c.1909C>T (p.Pro637Ser)
NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del) rs2151252928
NM_001113378.2(FANCI):c.1925T>C (p.Leu642Pro) rs2151709613
NM_001113378.2(FANCI):c.1931C>T (p.Pro644Leu)
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) rs746651145
NM_001113378.2(FANCI):c.1955T>G (p.Leu652Arg) rs2151709881
NM_001113378.2(FANCI):c.1962A>C (p.Gln654His)
NM_001113378.2(FANCI):c.1962A>G (p.Gln654=) rs2151709946
NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu) rs745308624
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
NM_001113378.2(FANCI):c.1992+3G>C
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu) rs748834576
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg) rs2151724076
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)
NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr)
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) rs2054115728
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
NM_001113378.2(FANCI):c.2063G>T (p.Gly688Val) rs778157971
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.2(FANCI):c.2074G>A (p.Glu692Lys)
NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly)
NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys)
NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala)
NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)
NM_001113378.2(FANCI):c.2095T>A (p.Tyr699Asn) rs769972292
NM_001113378.2(FANCI):c.2096A>G (p.Tyr699Cys) rs774148630
NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val)
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) rs2054118261
NM_001113378.2(FANCI):c.2170-7C>G rs759281018
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro) rs1596304843
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala) rs2054122961
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu) rs2052680747
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
NM_001113378.2(FANCI):c.2231T>C (p.Phe744Ser) rs1196776537
NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe)
NM_001113378.2(FANCI):c.2236G>A (p.Val746Met)
NM_001113378.2(FANCI):c.2255T>G (p.Val752Gly)
NM_001113378.2(FANCI):c.2266T>G (p.Tyr756Asp) rs752028405
NM_001113378.2(FANCI):c.226G>A (p.Val76Met) rs2151253448
NM_001113378.2(FANCI):c.2270A>G (p.Asn757Ser) rs111883566
NM_001113378.2(FANCI):c.2273T>G (p.Phe758Cys) rs750735931
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.2(FANCI):c.2280A>G (p.Ile760Met)
NM_001113378.2(FANCI):c.2288T>A (p.Phe763Tyr)
NM_001113378.2(FANCI):c.2290A>C (p.Ser764Arg)
NM_001113378.2(FANCI):c.2291+5G>A rs1315760080
NM_001113378.2(FANCI):c.2292-3C>T
NM_001113378.2(FANCI):c.2299A>G (p.Arg767Gly)
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val) rs772954096
NM_001113378.2(FANCI):c.2300G>T (p.Arg767Met) rs1555447886
NM_001113378.2(FANCI):c.2302T>G (p.Phe768Val)
NM_001113378.2(FANCI):c.2303T>A (p.Phe768Tyr)
NM_001113378.2(FANCI):c.2306A>C (p.Glu769Ala)
NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp)
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn) rs1192891263
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly) rs1363536852
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val) rs925359228
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys)
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala) rs1163712614
NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu) rs779973664
NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val) rs2151741592
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly) rs370996106
NM_001113378.2(FANCI):c.2458G>A (p.Asp820Asn) rs2151754385
NM_001113378.2(FANCI):c.2458G>T (p.Asp820Tyr) rs2151754385
NM_001113378.2(FANCI):c.2459A>G (p.Asp820Gly)
NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr)
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu) rs2151253685
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
NM_001113378.2(FANCI):c.2511G>C (p.Glu837Asp) rs2151754914
NM_001113378.2(FANCI):c.2518C>T (p.Arg840Cys)
NM_001113378.2(FANCI):c.2519G>T (p.Arg840Leu) rs777483611
NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile) rs1596307741
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro) rs541976745
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly) rs2054201315
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser) rs749604758
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
NM_001113378.2(FANCI):c.2671T>G (p.Ser891Ala) rs2054461834
NM_001113378.2(FANCI):c.2674G>T (p.Val892Leu) rs760751687
NM_001113378.2(FANCI):c.2677G>A (p.Glu893Lys)
NM_001113378.2(FANCI):c.2678A>C (p.Glu893Ala)
NM_001113378.2(FANCI):c.2683T>G (p.Ser895Ala) rs1567170319
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr) rs530089482
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile) rs1421890045
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln) rs1261021714
NM_001113378.2(FANCI):c.2738A>C (p.Gln913Pro)
NM_001113378.2(FANCI):c.2745_2747del (p.Phe916del)
NM_001113378.2(FANCI):c.2746T>C (p.Phe916Leu)
NM_001113378.2(FANCI):c.2747T>G (p.Phe916Cys)
NM_001113378.2(FANCI):c.2750G>A (p.Ser917Asn) rs2151839260
NM_001113378.2(FANCI):c.2752G>A (p.Ala918Thr)
NM_001113378.2(FANCI):c.2766C>G (p.Phe922Leu) rs2054464932
NM_001113378.2(FANCI):c.2776A>C (p.Lys926Gln) rs1596316742
NM_001113378.2(FANCI):c.2777A>C (p.Lys926Thr) rs1386770100
NM_001113378.2(FANCI):c.2782C>G (p.Gln928Glu)
NM_001113378.2(FANCI):c.2789T>G (p.Phe930Cys)
NM_001113378.2(FANCI):c.2790T>A (p.Phe930Leu)
NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr)
NM_001113378.2(FANCI):c.2803+6C>T
NM_001113378.2(FANCI):c.280A>G (p.Met94Val)
NM_001113378.2(FANCI):c.2810C>G (p.Thr937Arg) rs2151844601
NM_001113378.2(FANCI):c.2822_2824del (p.Gly941del)
NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val)
NM_001113378.2(FANCI):c.2842G>C (p.Asp948His)
NM_001113378.2(FANCI):c.2843A>G (p.Asp948Gly) rs2054481871
NM_001113378.2(FANCI):c.2849G>C (p.Ser950Thr) rs760327010
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.2(FANCI):c.2854A>G (p.Thr952Ala)
NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal) rs1555448946
NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr)
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
NM_001113378.2(FANCI):c.289-18T>C
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys) rs2151859007
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg) rs376798440
NM_001113378.2(FANCI):c.2936G>A (p.Ser979Asn) rs769453869
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr) rs769453869
NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val)
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile) rs762231803
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
NM_001113378.2(FANCI):c.2990A>T (p.Glu997Val) rs1567171375
NM_001113378.2(FANCI):c.2998T>A (p.Ser1000Thr) rs2151859745
NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)
NM_001113378.2(FANCI):c.3006+4C>G
NM_001113378.2(FANCI):c.3007-3T>A
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser) rs770185523
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
NM_001113378.2(FANCI):c.3036G>T (p.Lys1012Asn)
NM_001113378.2(FANCI):c.3054C>G (p.Ser1018Arg)
NM_001113378.2(FANCI):c.3056G>C (p.Arg1019Pro) rs772401747
NM_001113378.2(FANCI):c.3058+4A>G rs2054616468
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
NM_001113378.2(FANCI):c.3059-11C>T rs2054667046
NM_001113378.2(FANCI):c.3061G>A (p.Asp1021Asn) rs2054667740
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr) rs2054667740
NM_001113378.2(FANCI):c.3062A>G (p.Asp1021Gly) rs1290229004
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser) rs1359308008
NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu) rs2151913209
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
NM_001113378.2(FANCI):c.3157A>G (p.Ile1053Val) rs1486397190
NM_001113378.2(FANCI):c.3161A>G (p.His1054Arg)
NM_001113378.2(FANCI):c.3163G>A (p.Gly1055Arg)
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn) rs2054670897
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg) rs2054671049
NM_001113378.2(FANCI):c.3179T>C (p.Ile1060Thr) rs201376236
NM_001113378.2(FANCI):c.3186+6A>G rs910020158
NM_001113378.2(FANCI):c.3187-3C>G rs2054676661
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly) rs2052715611
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu) rs1450182027
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe) rs533779983
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3256-8_3256-4del
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile) rs2151267729
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) rs758575911
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile) rs1596325131
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro) rs768735814
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln) rs2151267825
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser) rs2151919026
NM_001113378.2(FANCI):c.3354G>C (p.Glu1118Asp)
NM_001113378.2(FANCI):c.3354G>T (p.Glu1118Asp) rs760199293
NM_001113378.2(FANCI):c.3355G>A (p.Ala1119Thr)
NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr)
NM_001113378.2(FANCI):c.3370A>C (p.Thr1124Pro)
NM_001113378.2(FANCI):c.3370A>G (p.Thr1124Ala) rs2151923443
NM_001113378.2(FANCI):c.3371C>G (p.Thr1124Ser)
NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu) rs766158703
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu) rs2054705069
NM_001113378.2(FANCI):c.3389T>A (p.Val1130Asp) rs764412863
NM_001113378.2(FANCI):c.3391G>C (p.Glu1131Gln)
NM_001113378.2(FANCI):c.3392A>G (p.Glu1131Gly)
NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe)
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg) rs772071601
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu) rs2054708416
NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu)
NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe)
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
NM_001113378.2(FANCI):c.3500G>T (p.Cys1167Phe) rs1223721098
NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr) rs2151924528
NM_001113378.2(FANCI):c.350G>C (p.Arg117Thr)
NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala)
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
NM_001113378.2(FANCI):c.3537+3_3537+6del rs780264785
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val) rs2151940603
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
NM_001113378.2(FANCI):c.3591+4A>T rs774180579
NM_001113378.2(FANCI):c.3592-12C>T rs2054775391
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) rs767466504
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile) rs978000003
NM_001113378.2(FANCI):c.3646G>T (p.Val1216Leu) rs978000003
NM_001113378.2(FANCI):c.3651+3A>G rs2151942001
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=) rs766147964
NM_001113378.2(FANCI):c.3652-10A>G rs202231175
NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser) rs1352752568
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=) rs765168059
NM_001113378.2(FANCI):c.3689A>T (p.Lys1230Met)
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu) rs1252915442
NM_001113378.2(FANCI):c.3696A>T (p.Lys1232Asn) rs2055028402
NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr) rs751025656
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) rs2055029234
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys) rs2055130158
NM_001113378.2(FANCI):c.3733C>T (p.Arg1245Trp) rs905867236
NM_001113378.2(FANCI):c.3737A>C (p.Glu1246Ala) rs2152016970
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val) rs2055130868
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp) rs1229086339
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) rs2152017364
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) rs749287934
NM_001113378.2(FANCI):c.3816+17_3816+19del rs374324314
NM_001113378.2(FANCI):c.3828G>A (p.Met1276Ile) rs745401006
NM_001113378.2(FANCI):c.3830A>G (p.Gln1277Arg) rs2152030610
NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr)
NM_001113378.2(FANCI):c.3848C>G (p.Thr1283Ser) rs2055184928
NM_001113378.2(FANCI):c.3848C>T (p.Thr1283Ile) rs2055184928
NM_001113378.2(FANCI):c.3864_3869del (p.Ile1289_Lys1290del) rs2152030819
NM_001113378.2(FANCI):c.3872G>C (p.Gly1291Ala)
NM_001113378.2(FANCI):c.3875A>G (p.Asn1292Ser) rs2055185392
NM_001113378.2(FANCI):c.3886A>T (p.Met1296Leu)
NM_001113378.2(FANCI):c.3887T>C (p.Met1296Thr)
NM_001113378.2(FANCI):c.3888G>A (p.Met1296Ile) rs777500700
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile) rs150076848
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) rs551305056
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) rs138663330
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly) rs1596343025
NM_001113378.2(FANCI):c.3924+1G>T
NM_001113378.2(FANCI):c.3925-10_3935inv
NM_001113378.2(FANCI):c.3925-84_3925-81dup rs1444126104
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs) rs2152049557
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val) rs771174269
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg) rs1402252175
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs) rs771578684
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn) rs1159813655
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329_Ter(1329_?)(?))
NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr) rs2052049943
NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys) rs2052718668
NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys)
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg) rs1282962332
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser) rs763494935
NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu) rs765811874
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys) rs766640605
NM_001113378.2(FANCI):c.466T>C (p.Cys156Arg)
NM_001113378.2(FANCI):c.473A>T (p.Lys158Ile)
NM_001113378.2(FANCI):c.477G>T (p.Gln159His)
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr) rs2151054381
NM_001113378.2(FANCI):c.501C>T (p.Gly167=) rs2151271104
NM_001113378.2(FANCI):c.503+6T>G
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val) rs1328734606
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg) rs775891592
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) rs2151291390
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
NM_001113378.2(FANCI):c.546-5C>T rs2052826764
NM_001113378.2(FANCI):c.548A>T (p.Asp183Val)
NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser)
NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser)
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu) rs2052827709
NM_001113378.2(FANCI):c.565G>A (p.Glu189Lys) rs2052827867
NM_001113378.2(FANCI):c.565G>C (p.Glu189Gln)
NM_001113378.2(FANCI):c.568G>C (p.Glu190Gln)
NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln)
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile)
NM_001113378.2(FANCI):c.603G>A (p.Met201Ile)
NM_001113378.2(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.2(FANCI):c.615G>C (p.Met205Ile)
NM_001113378.2(FANCI):c.620T>A (p.Leu207His)
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg) rs368033980
NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser) rs2151297988
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe) rs2052830473
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
NM_001113378.2(FANCI):c.669+17_669+18del rs751881445
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val) rs2151304688
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
NM_001113378.2(FANCI):c.696A>T (p.Gly232=) rs2052856419
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val) rs757102747
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr) rs1254032261
NM_001113378.2(FANCI):c.706T>C (p.Phe236Leu) rs1356319036
NM_001113378.2(FANCI):c.706_707delinsGC (p.Phe236Ala) rs2151304891
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn) rs2052858701
NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln)
NM_001113378.2(FANCI):c.755+3G>A rs2151305411
NM_001113378.2(FANCI):c.756-6T>C
NM_001113378.2(FANCI):c.756-7C>A
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del) rs1322941307
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
NM_001113378.2(FANCI):c.791T>A (p.Leu264His)
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) rs1005232714
NM_001113378.2(FANCI):c.805G>A (p.Gly269Ser)
NM_001113378.2(FANCI):c.827T>C (p.Val276Ala)
NM_001113378.2(FANCI):c.835A>G (p.Ile279Val) rs1434427258
NM_001113378.2(FANCI):c.838A>C (p.Lys280Gln) rs2053065030
NM_001113378.2(FANCI):c.838A>G (p.Lys280Glu)
NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly) rs1060501902
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001113378.2(FANCI):c.882+6A>G
NM_001113378.2(FANCI):c.883-4C>G rs2053277160
NM_001113378.2(FANCI):c.896G>A (p.Gly299Glu) rs2053277582
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr) rs1567151740
NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser) rs2053277912
NM_001113378.2(FANCI):c.919_920delinsGT (p.Pro307Val) rs2053278264
NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)
NM_001113378.2(FANCI):c.933TCT[2] (p.Leu314del) rs766563407
NM_001113378.2(FANCI):c.937C>G (p.Leu313Val)
NM_001113378.2(FANCI):c.938T>C (p.Leu313Pro)
NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)
NM_001113378.2(FANCI):c.950C>G (p.Thr317Arg) rs774051668
NM_001113378.2(FANCI):c.953G>T (p.Arg318Ile)
NM_001113378.2(FANCI):c.956T>C (p.Ile319Thr) rs1024430096
NM_001113378.2(FANCI):c.96_98del (p.Leu33del) rs747603151
NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr) rs2151439651
NM_001113378.2(FANCI):c.976-2_977dup
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro) rs2053317531
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu) rs761982725
NM_001113378.2(FANCI):c.9G>C (p.Gln3His)
NM_001113525.2(ZNF276):c.*1046A>G rs1257557473
NM_001113525.2(ZNF276):c.*1227G>A rs1353285713
NM_001113525.2(ZNF276):c.*1310G>C
NM_001113525.2(ZNF276):c.*1314C>T rs2062071481
NM_001113525.2(ZNF276):c.*1743C>T
NM_001113525.2(ZNF276):c.*1744T>C rs2062087707
NM_001113525.2(ZNF276):c.*1867G>C
NM_001113525.2(ZNF276):c.*246G>A rs55679217
NM_001113525.2(ZNF276):c.*2623G>A
NM_001113525.2(ZNF276):c.*468AG[2]
NM_001113525.2(ZNF276):c.*469G>C
NM_001113525.2(ZNF276):c.*471GAG[1] rs2151710048
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001113525.2(ZNF276):c.*475A>T rs2151710077
NM_001113525.2(ZNF276):c.*630C>A rs374793201
NM_001113525.2(ZNF276):c.*630C>G rs374793201
NM_001113525.2(ZNF276):c.*630C>T rs374793201
NM_001113525.2(ZNF276):c.*631G>A
NM_001113525.2(ZNF276):c.*732G>A rs775180524
NM_001113525.2(ZNF276):c.*882C>T
NM_001113525.2(ZNF276):c.1475-217T>C rs886052477
NM_001114636.1(FANCL):c.-34T>C rs374960980
NM_001114636.1(FANCL):c.-39A>C rs41281511
NM_001114636.1(FANCL):c.-40C>A rs199661008
NM_001114636.1(FANCL):c.-44C>T rs780348127
NM_001127671.2(LIFR):c.*1291G>A rs767087396
NM_001127671.2(LIFR):c.*1464dup rs560124949
NM_001127671.2(LIFR):c.*1854C>T rs886060619
NM_001127671.2(LIFR):c.*1855A>T rs886060618
NM_001127671.2(LIFR):c.*1952A>G rs558503590
NM_001127671.2(LIFR):c.*1972C>T rs1227741988
NM_001127671.2(LIFR):c.*2138dup rs141563662
NM_001127671.2(LIFR):c.*2360A>C rs1461084870
NM_001127671.2(LIFR):c.*2910G>A rs368109984
NM_001127671.2(LIFR):c.*2981TATTT[1] rs540513218
NM_001127671.2(LIFR):c.*3074A>G rs2112340433
NM_001127671.2(LIFR):c.*3163T>A rs142495539
NM_001127671.2(LIFR):c.*3163T>C rs142495539
NM_001127671.2(LIFR):c.*3302T>C rs868197411
NM_001127671.2(LIFR):c.*3302T>G rs868197411
NM_001127671.2(LIFR):c.*3850T>G rs886060616
NM_001127671.2(LIFR):c.*4417A>G rs886060614
NM_001127671.2(LIFR):c.*4428T>C rs10056657
NM_001127671.2(LIFR):c.*4926_*4927del rs764162435
NM_001127671.2(LIFR):c.*4927del rs764162435
NM_001127671.2(LIFR):c.*5017A>G rs886060610
NM_001127671.2(LIFR):c.*5206A>G rs1347465930
NM_001127671.2(LIFR):c.*5542G>A rs886060608
NM_001127671.2(LIFR):c.*5768A>C rs886060606
NM_001127671.2(LIFR):c.*5793C>G rs556240742
NM_001127671.2(LIFR):c.*5796A>C rs886060605
NM_001127671.2(LIFR):c.*5986T>C rs886060604
NM_001127671.2(LIFR):c.*6386A>G rs2112328487
NM_001127671.2(LIFR):c.*6491A>G rs2112328232
NM_001127671.2(LIFR):c.*9C>A rs1743984823
NM_001127671.2(LIFR):c.-19-10C>T rs775849083
NM_001127671.2(LIFR):c.-19G>C rs2112571693
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) rs543824186
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.1560C>T (p.Ser520=) rs1424683209
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449
NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly) rs121912501
NM_001127671.2(LIFR):c.183A>C (p.Gln61His) rs1243202901
NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys) rs1744714439
NM_001127671.2(LIFR):c.2262C>A (p.Gly754=) rs886060630
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224
NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val) rs769684275
NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe) rs886060629
NM_001127671.2(LIFR):c.2750T>A (p.Phe917Tyr) rs886060628
NM_001127671.2(LIFR):c.2807G>A (p.Arg936His)
NM_001127671.2(LIFR):c.2852C>T (p.Pro951Leu) rs886060627
NM_001127671.2(LIFR):c.3082T>A (p.Tyr1028Asn) rs886060626
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) rs1745754747
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) rs2112493238
NM_001127671.2(LIFR):c.935C>A (p.Thr312Lys) rs886060631
NM_001127671.2(LIFR):c.991+10T>C rs2112491503
NM_001127671.2(LIFR):c.992-8dup rs773048780
NM_001127671.2(LIFR):c.9T>G (p.Asp3Glu) rs746821182
NM_001128225.3(SLC39A13):c.-9+256T>C
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met) rs1595887083
NM_001128225.3(SLC39A13):c.1010T>C (p.Leu337Pro) rs2153301868
NM_001128225.3(SLC39A13):c.1037C>G (p.Pro346Arg)
NM_001128225.3(SLC39A13):c.1051C>T (p.Gln351Ter)
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=) rs1163501092
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro) rs2096021765
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu) rs777112793
NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)
NM_001128225.3(SLC39A13):c.133G>A (p.Ala45Thr)
NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val) rs2095991241
NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)
NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del) rs2095992049
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val) rs754729494
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala) rs2153291853
NM_001128225.3(SLC39A13):c.301+5G>A rs1351664483
NM_001128225.3(SLC39A13):c.302C>T (p.Ala101Val) rs2153295514
NM_001128225.3(SLC39A13):c.323A>G (p.Gln108Arg) rs1565662802
NM_001128225.3(SLC39A13):c.325C>G (p.Leu109Val) rs146848042
NM_001128225.3(SLC39A13):c.377dup (p.Pro127fs)
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala) rs148165667
NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile) rs1555136368
NM_001128225.3(SLC39A13):c.634C>T (p.Arg212Trp)
NM_001128225.3(SLC39A13):c.644A>C (p.Lys215Thr) rs765944959
NM_001128225.3(SLC39A13):c.645+3G>A rs2153299338
NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)
NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del) rs2153299658
NM_001128225.3(SLC39A13):c.786+5G>A rs1331180727
NM_001128225.3(SLC39A13):c.789G>A (p.Val263=) rs747750601
NM_001128225.3(SLC39A13):c.812G>C (p.Arg271Pro) rs376883075
NM_001128225.3(SLC39A13):c.849A>T (p.Gln283His) rs1468079148
NM_001128225.3(SLC39A13):c.863T>G (p.Leu288Arg)
NM_001128225.3(SLC39A13):c.86G>A (p.Arg29Lys) rs751210151
NM_001128225.3(SLC39A13):c.875T>G (p.Leu292Arg)
NM_001128225.3(SLC39A13):c.880G>A (p.Ala294Thr)
NM_001128225.3(SLC39A13):c.919+5G>A
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)
NM_001130144.3(LTBP3):c.1001G>A (p.Arg334His)
NM_001130144.3(LTBP3):c.1001G>C (p.Arg334Pro) rs750231928
NM_001130144.3(LTBP3):c.1015G>A (p.Ala339Thr)
NM_001130144.3(LTBP3):c.1021T>C (p.Cys341Arg)
NM_001130144.3(LTBP3):c.1071C>T (p.Asn357=)
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys) rs913431428
NM_001130144.3(LTBP3):c.1080_1085dup (p.Pro362_Gly363insMetPro)
NM_001130144.3(LTBP3):c.1085C>T (p.Pro362Leu)
NM_001130144.3(LTBP3):c.1097G>A (p.Arg366His)
NM_001130144.3(LTBP3):c.1102G>A (p.Gly368Ser)
NM_001130144.3(LTBP3):c.1108T>G (p.Cys370Gly)
NM_001130144.3(LTBP3):c.1126T>A (p.Ser376Thr)
NM_001130144.3(LTBP3):c.1133G>T (p.Arg378Leu)
NM_001130144.3(LTBP3):c.1138G>C (p.Val380Leu)
NM_001130144.3(LTBP3):c.1148C>G (p.Pro383Arg)
NM_001130144.3(LTBP3):c.1196C>A (p.Pro399Gln)
NM_001130144.3(LTBP3):c.1198GAG[1] (p.Glu401del) rs1856643872
NM_001130144.3(LTBP3):c.1220G>A (p.Arg407His)
NM_001130144.3(LTBP3):c.1239C>G (p.His413Gln) rs772094176
NM_001130144.3(LTBP3):c.1267C>T (p.Leu423=)
NM_001130144.3(LTBP3):c.1274G>A (p.Arg425His)
NM_001130144.3(LTBP3):c.127G>A (p.Gly43Arg)
NM_001130144.3(LTBP3):c.128G>A (p.Gly43Glu) rs759902304
NM_001130144.3(LTBP3):c.128G>C (p.Gly43Ala) rs759902304
NM_001130144.3(LTBP3):c.1292G>A (p.Ser431Asn)
NM_001130144.3(LTBP3):c.1312_1313delinsAT (p.Ala438Met)
NM_001130144.3(LTBP3):c.1316G>A (p.Arg439Gln)
NM_001130144.3(LTBP3):c.1325G>A (p.Arg442His) rs959220350
NM_001130144.3(LTBP3):c.1344C>T (p.Thr448=)
NM_001130144.3(LTBP3):c.1345G>A (p.Ala449Thr)
NM_001130144.3(LTBP3):c.1354A>G (p.Lys452Glu) rs1590782835
NM_001130144.3(LTBP3):c.1372G>A (p.Gly458Arg)
NM_001130144.3(LTBP3):c.1378G>A (p.Gly460Arg) rs2135153807
NM_001130144.3(LTBP3):c.1400A>G (p.His467Arg)
NM_001130144.3(LTBP3):c.1406C>T (p.Thr469Met)
NM_001130144.3(LTBP3):c.1412C>T (p.Thr471Ile) rs2135153763
NM_001130144.3(LTBP3):c.1419G>A (p.Gln473=)
NM_001130144.3(LTBP3):c.1422C>T (p.Gly474=)
NM_001130144.3(LTBP3):c.1423G>A (p.Glu475Lys)
NM_001130144.3(LTBP3):c.1441T>C (p.Phe481Leu)
NM_001130144.3(LTBP3):c.1456G>C (p.Gly486Arg) rs148883568
NM_001130144.3(LTBP3):c.146G>A (p.Arg49Gln)
NM_001130144.3(LTBP3):c.1480C>T (p.Pro494Ser)
NM_001130144.3(LTBP3):c.1498G>T (p.Ala500Ser)
NM_001130144.3(LTBP3):c.1505C>G (p.Pro502Arg)
NM_001130144.3(LTBP3):c.1526A>G (p.Glu509Gly)
NM_001130144.3(LTBP3):c.1534G>A (p.Val512Met)
NM_001130144.3(LTBP3):c.1537A>G (p.Thr513Ala)
NM_001130144.3(LTBP3):c.1546T>C (p.Ser516Pro)
NM_001130144.3(LTBP3):c.1557T>A (p.Ser519Arg)
NM_001130144.3(LTBP3):c.1586C>T (p.Pro529Leu)
NM_001130144.3(LTBP3):c.1588A>G (p.Thr530Ala)
NM_001130144.3(LTBP3):c.1609C>T (p.Arg537Trp) rs753655134
NM_001130144.3(LTBP3):c.1612C>T (p.Pro538Ser)
NM_001130144.3(LTBP3):c.161G>A (p.Gly54Asp)
NM_001130144.3(LTBP3):c.1621+4A>C
NM_001130144.3(LTBP3):c.1624C>G (p.Leu542Val)
NM_001130144.3(LTBP3):c.1630T>C (p.Ser544Pro)
NM_001130144.3(LTBP3):c.1640C>G (p.Ser547Trp)
NM_001130144.3(LTBP3):c.1655G>A (p.Arg552His)
NM_001130144.3(LTBP3):c.1660T>C (p.Phe554Leu) rs1229419620
NM_001130144.3(LTBP3):c.1662C>A (p.Phe554Leu)
NM_001130144.3(LTBP3):c.1682C>T (p.Ser561Phe)
NM_001130144.3(LTBP3):c.1684C>G (p.Arg562Gly)
NM_001130144.3(LTBP3):c.1699A>G (p.Ile567Val)
NM_001130144.3(LTBP3):c.1700T>C (p.Ile567Thr)
NM_001130144.3(LTBP3):c.170T>C (p.Leu57Pro)
NM_001130144.3(LTBP3):c.1712A>G (p.Gln571Arg) rs1856594821
NM_001130144.3(LTBP3):c.1721-5C>A
NM_001130144.3(LTBP3):c.1721-7C>G
NM_001130144.3(LTBP3):c.1734C>G (p.Cys578Trp) rs750943686
NM_001130144.3(LTBP3):c.1746G>C (p.Gln582His)
NM_001130144.3(LTBP3):c.1772T>C (p.Val591Ala)
NM_001130144.3(LTBP3):c.1780C>T (p.Pro594Ser) rs2135143369
NM_001130144.3(LTBP3):c.1784C>A (p.Pro595His)
NM_001130144.3(LTBP3):c.1793_1795del (p.Ser598del)
NM_001130144.3(LTBP3):c.1801T>C (p.Cys601Arg)
NM_001130144.3(LTBP3):c.1810G>A (p.Gly604Ser) rs557335712
NM_001130144.3(LTBP3):c.1817G>A (p.Arg606Gln)
NM_001130144.3(LTBP3):c.1837T>C (p.Tyr613His)
NM_001130144.3(LTBP3):c.1846+3G>A
NM_001130144.3(LTBP3):c.1846+6C>G rs760385371
NM_001130144.3(LTBP3):c.1846+6C>T rs760385371
NM_001130144.3(LTBP3):c.188A>G (p.Lys63Arg)
NM_001130144.3(LTBP3):c.1897A>C (p.Met633Leu)
NM_001130144.3(LTBP3):c.189G>T (p.Lys63Asn)
NM_001130144.3(LTBP3):c.189GGT[1] (p.Val65del)
NM_001130144.3(LTBP3):c.190G>A (p.Val64Met)
NM_001130144.3(LTBP3):c.1924C>G (p.His642Asp)
NM_001130144.3(LTBP3):c.1936G>C (p.Gly646Arg)
NM_001130144.3(LTBP3):c.1942C>T (p.Arg648Cys) rs763889449
NM_001130144.3(LTBP3):c.1950C>A (p.His650Gln)
NM_001130144.3(LTBP3):c.1963G>A (p.Gly655Arg) rs770990142
NM_001130144.3(LTBP3):c.1999C>A (p.Pro667Thr)
NM_001130144.3(LTBP3):c.1999C>T (p.Pro667Ser)
NM_001130144.3(LTBP3):c.2014G>A (p.Asp672Asn)
NM_001130144.3(LTBP3):c.2035T>C (p.Phe679Leu)
NM_001130144.3(LTBP3):c.2042G>A (p.Gly681Asp)
NM_001130144.3(LTBP3):c.2057A>G (p.Asn686Ser)
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys) rs376337792
NM_001130144.3(LTBP3):c.2065C>T (p.Pro689Ser)
NM_001130144.3(LTBP3):c.2077C>A (p.Leu693Ile)
NM_001130144.3(LTBP3):c.2090G>A (p.Arg697Gln)
NM_001130144.3(LTBP3):c.2095C>G (p.Pro699Ala)
NM_001130144.3(LTBP3):c.20C>T (p.Ala7Val)
NM_001130144.3(LTBP3):c.2123G>T (p.Arg708Leu)
NM_001130144.3(LTBP3):c.2141C>G (p.Pro714Arg) rs1252981675
NM_001130144.3(LTBP3):c.2155G>A (p.Glu719Lys)
NM_001130144.3(LTBP3):c.2155G>C (p.Glu719Gln) rs772542139
NM_001130144.3(LTBP3):c.2164C>A (p.Pro722Thr)
NM_001130144.3(LTBP3):c.2164C>T (p.Pro722Ser)
NM_001130144.3(LTBP3):c.2174T>C (p.Phe725Ser)
NM_001130144.3(LTBP3):c.2181C>T (p.Cys727=)
NM_001130144.3(LTBP3):c.2185G>A (p.Ala729Thr)
NM_001130144.3(LTBP3):c.2186C>T (p.Ala729Val)
NM_001130144.3(LTBP3):c.2188T>C (p.Cys730Arg) rs2135139983
NM_001130144.3(LTBP3):c.2206A>G (p.Ser736Gly)
NM_001130144.3(LTBP3):c.2212G>C (p.Gly738Arg) rs377496105
NM_001130144.3(LTBP3):c.2212G>T (p.Gly738Trp)
NM_001130144.3(LTBP3):c.2218G>A (p.Gly740Arg)
NM_001130144.3(LTBP3):c.2222C>T (p.Ala741Val)
NM_001130144.3(LTBP3):c.2228G>T (p.Arg743Leu)
NM_001130144.3(LTBP3):c.2230+11G>T rs1856391896
NM_001130144.3(LTBP3):c.2230+6G>A
NM_001130144.3(LTBP3):c.2231-5C>G
NM_001130144.3(LTBP3):c.2232C>G (p.Asp744Glu)
NM_001130144.3(LTBP3):c.2246C>G (p.Ala749Gly)
NM_001130144.3(LTBP3):c.2252G>A (p.Gly751Asp)
NM_001130144.3(LTBP3):c.2266C>T (p.Pro756Ser)
NM_001130144.3(LTBP3):c.2280G>C (p.Glu760Asp)
NM_001130144.3(LTBP3):c.2287C>T (p.Pro763Ser)
NM_001130144.3(LTBP3):c.2306C>T (p.Thr769Ile)
NM_001130144.3(LTBP3):c.2324CGCCCG[3] (p.Pro778_Asp779insAlaPro)
NM_001130144.3(LTBP3):c.2326C>T (p.Pro776Ser)
NM_001130144.3(LTBP3):c.2332C>A (p.Pro778Thr) rs2135138292
NM_001130144.3(LTBP3):c.2335G>A (p.Asp779Asn)
NM_001130144.3(LTBP3):c.2338G>A (p.Gly780Ser)
NM_001130144.3(LTBP3):c.2339G>C (p.Gly780Ala)
NM_001130144.3(LTBP3):c.2339G>T (p.Gly780Val)
NM_001130144.3(LTBP3):c.2342G>A (p.Arg781His)
NM_001130144.3(LTBP3):c.2345G>A (p.Ser782Asn)
NM_001130144.3(LTBP3):c.2375G>A (p.Gly792Glu)
NM_001130144.3(LTBP3):c.2386G>A (p.Asp796Asn)
NM_001130144.3(LTBP3):c.2408C>T (p.Thr803Met)
NM_001130144.3(LTBP3):c.2414G>A (p.Gly805Glu)
NM_001130144.3(LTBP3):c.2417C>T (p.Ser806Phe)
NM_001130144.3(LTBP3):c.2434C>G (p.Leu812Val)
NM_001130144.3(LTBP3):c.2434C>T (p.Leu812Phe)
NM_001130144.3(LTBP3):c.2443T>A (p.Tyr815Asn)
NM_001130144.3(LTBP3):c.2446C>T (p.His816Tyr)
NM_001130144.3(LTBP3):c.2449C>G (p.Leu817Val) rs2135131479
NM_001130144.3(LTBP3):c.2456G>A (p.Arg819Lys) rs1856241830
NM_001130144.3(LTBP3):c.2462G>A (p.Arg821Gln)
NM_001130144.3(LTBP3):c.2471G>A (p.Cys824Tyr)
NM_001130144.3(LTBP3):c.2472C>T (p.Cys824=)
NM_001130144.3(LTBP3):c.2473G>C (p.Glu825Gln)
NM_001130144.3(LTBP3):c.2475G>A (p.Glu825=) rs1465792342
NM_001130144.3(LTBP3):c.2477-12_2477-3dup rs766331896
NM_001130144.3(LTBP3):c.2477-3C>T
NM_001130144.3(LTBP3):c.247A>G (p.Ser83Gly)
NM_001130144.3(LTBP3):c.2481T>G (p.Ile827Met)
NM_001130144.3(LTBP3):c.2482G>C (p.Asp828His)
NM_001130144.3(LTBP3):c.2497C>T (p.Pro833Ser)
NM_001130144.3(LTBP3):c.2511T>G (p.Ile837Met)
NM_001130144.3(LTBP3):c.2514G>A (p.Gly838=)
NM_001130144.3(LTBP3):c.2516G>A (p.Gly839Asp) rs1856229058
NM_001130144.3(LTBP3):c.2539T>C (p.Ser847Pro) rs1856228372
NM_001130144.3(LTBP3):c.2549G>A (p.Cys850Tyr)
NM_001130144.3(LTBP3):c.2551C>T (p.Leu851Phe)
NM_001130144.3(LTBP3):c.2569C>T (p.Arg857Trp)
NM_001130144.3(LTBP3):c.2570G>A (p.Arg857Gln)
NM_001130144.3(LTBP3):c.2574G>A (p.Leu858=)
NM_001130144.3(LTBP3):c.2630G>A (p.Cys877Tyr) rs746567483
NM_001130144.3(LTBP3):c.2632C>T (p.Leu878Phe) rs1006876203
NM_001130144.3(LTBP3):c.2715C>A (p.His905Gln)
NM_001130144.3(LTBP3):c.2722G>C (p.Glu908Gln)
NM_001130144.3(LTBP3):c.2725+6T>C
NM_001130144.3(LTBP3):c.2727G>A (p.Glu909=)
NM_001130144.3(LTBP3):c.2746AAG[1] (p.Lys917del) rs749595547
NM_001130144.3(LTBP3):c.2762T>G (p.Leu921Arg)
NM_001130144.3(LTBP3):c.2770G>C (p.Asp924His)
NM_001130144.3(LTBP3):c.2788G>C (p.Asp930His)
NM_001130144.3(LTBP3):c.2804C>T (p.Thr935Ile) rs2135125492
NM_001130144.3(LTBP3):c.2807A>G (p.Asn936Ser)
NM_001130144.3(LTBP3):c.2809G>T (p.Val937Leu)
NM_001130144.3(LTBP3):c.2818C>A (p.Gln940Lys)
NM_001130144.3(LTBP3):c.2825G>A (p.Cys942Tyr) rs780427114
NM_001130144.3(LTBP3):c.2846G>A (p.Gly949Asp)
NM_001130144.3(LTBP3):c.2852G>T (p.Gly951Val)
NM_001130144.3(LTBP3):c.2894-3C>T
NM_001130144.3(LTBP3):c.2894C>T (p.Ala965Val)
NM_001130144.3(LTBP3):c.2908C>T (p.Leu970Phe)
NM_001130144.3(LTBP3):c.2917G>A (p.Asp973Asn)
NM_001130144.3(LTBP3):c.2939ACA[2] (p.Asn982del) rs778563938
NM_001130144.3(LTBP3):c.2947A>G (p.Ile983Val)
NM_001130144.3(LTBP3):c.2951T>C (p.Val984Ala)
NM_001130144.3(LTBP3):c.2974C>A (p.Arg992Ser)
NM_001130144.3(LTBP3):c.2978-11T>C
NM_001130144.3(LTBP3):c.2978-16_2995dup
NM_001130144.3(LTBP3):c.2979C>A (p.Asp993Glu)
NM_001130144.3(LTBP3):c.2986G>A (p.Glu996Lys)
NM_001130144.3(LTBP3):c.298A>G (p.Thr100Ala)
NM_001130144.3(LTBP3):c.2992A>T (p.Met998Leu) rs780796970
NM_001130144.3(LTBP3):c.3006G>A (p.Ser1002=)
NM_001130144.3(LTBP3):c.3030C>G (p.Cys1010Trp)
NM_001130144.3(LTBP3):c.3031G>T (p.Val1011Leu) rs2135122386
NM_001130144.3(LTBP3):c.3041A>G (p.Gln1014Arg)
NM_001130144.3(LTBP3):c.3076TAC[1] (p.Tyr1027del)
NM_001130144.3(LTBP3):c.3085G>A (p.Gly1029Arg)
NM_001130144.3(LTBP3):c.3103G>C (p.Val1035Leu)
NM_001130144.3(LTBP3):c.3103G>T (p.Val1035Leu) rs200797100
NM_001130144.3(LTBP3):c.3106+4A>G
NM_001130144.3(LTBP3):c.3148G>A (p.Val1050Met)
NM_001130144.3(LTBP3):c.314G>C (p.Gly105Ala)
NM_001130144.3(LTBP3):c.314G>T (p.Gly105Val)
NM_001130144.3(LTBP3):c.3154G>A (p.Glu1052Lys)
NM_001130144.3(LTBP3):c.3166G>A (p.Gly1056Ser)
NM_001130144.3(LTBP3):c.3169G>A (p.Gly1057Ser)
NM_001130144.3(LTBP3):c.3173A>G (p.Tyr1058Cys)
NM_001130144.3(LTBP3):c.3175C>A (p.Arg1059Ser) rs1371757289
NM_001130144.3(LTBP3):c.3175C>T (p.Arg1059Cys)
NM_001130144.3(LTBP3):c.3205A>T (p.Ser1069Cys)
NM_001130144.3(LTBP3):c.3212C>T (p.Ala1071Val)
NM_001130144.3(LTBP3):c.3242T>G (p.Met1081Arg)
NM_001130144.3(LTBP3):c.3247G>T (p.Val1083Leu)
NM_001130144.3(LTBP3):c.3250G>C (p.Asp1084His)
NM_001130144.3(LTBP3):c.3252C>G (p.Asp1084Glu) rs765891223
NM_001130144.3(LTBP3):c.3266C>T (p.Pro1089Leu)
NM_001130144.3(LTBP3):c.3269C>T (p.Ala1090Val)
NM_001130144.3(LTBP3):c.3275_3276delinsTT (p.Cys1092Phe)
NM_001130144.3(LTBP3):c.3278G>A (p.Arg1093His)
NM_001130144.3(LTBP3):c.3280C>T (p.Pro1094Ser)
NM_001130144.3(LTBP3):c.3293T>A (p.Val1098Asp)
NM_001130144.3(LTBP3):c.3293T>C (p.Val1098Ala)
NM_001130144.3(LTBP3):c.329T>C (p.Val110Ala)
NM_001130144.3(LTBP3):c.3305G>C (p.Gly1102Ala)
NM_001130144.3(LTBP3):c.3310T>C (p.Tyr1104His) rs1335050541
NM_001130144.3(LTBP3):c.3322T>C (p.Cys1108Arg)
NM_001130144.3(LTBP3):c.3332C>T (p.Pro1111Leu)
NM_001130144.3(LTBP3):c.3337G>A (p.Val1113Met)
NM_001130144.3(LTBP3):c.3343_3348dup (p.Gly1115_Pro1116dup) rs2135119802
NM_001130144.3(LTBP3):c.3344G>A (p.Gly1115Glu)
NM_001130144.3(LTBP3):c.3355C>G (p.Arg1119Gly)
NM_001130144.3(LTBP3):c.3359A>T (p.Asp1120Val)
NM_001130144.3(LTBP3):c.3367C>T (p.Leu1123Phe)
NM_001130144.3(LTBP3):c.3373G>A (p.Glu1125Lys)
NM_001130144.3(LTBP3):c.3383C>T (p.Ala1128Val)
NM_001130144.3(LTBP3):c.3385+6G>C
NM_001130144.3(LTBP3):c.3385G>A (p.Glu1129Lys)
NM_001130144.3(LTBP3):c.3395C>T (p.Pro1132Leu)
NM_001130144.3(LTBP3):c.3399G>T (p.Glu1133Asp) rs2135118725
NM_001130144.3(LTBP3):c.3400C>T (p.Arg1134Trp)
NM_001130144.3(LTBP3):c.3424C>A (p.Arg1142Ser)
NM_001130144.3(LTBP3):c.3437G>C (p.Gly1146Ala)
NM_001130144.3(LTBP3):c.3445G>A (p.Ala1149Thr) rs1375139471
NM_001130144.3(LTBP3):c.3449G>A (p.Gly1150Asp) rs1404901505
NM_001130144.3(LTBP3):c.3458C>T (p.Ala1153Val)
NM_001130144.3(LTBP3):c.3481G>A (p.Asp1161Asn) rs1377615305
NM_001130144.3(LTBP3):c.3482A>G (p.Asp1161Gly)
NM_001130144.3(LTBP3):c.3482_3484dup (p.Asp1161_Cys1162insTyr)
NM_001130144.3(LTBP3):c.3494G>A (p.Arg1165His)
NM_001130144.3(LTBP3):c.3496_3498del (p.Gln1166del)
NM_001130144.3(LTBP3):c.3499G>A (p.Gly1167Ser)
NM_001130144.3(LTBP3):c.3503_3504delinsTT (p.Arg1168Leu) rs2135118245
NM_001130144.3(LTBP3):c.3518A>G (p.Gln1173Arg)
NM_001130144.3(LTBP3):c.3527C>T (p.Pro1176Leu) rs889758877
NM_001130144.3(LTBP3):c.3529T>C (p.Cys1177Arg)
NM_001130144.3(LTBP3):c.3533C>T (p.Pro1178Leu)
NM_001130144.3(LTBP3):c.3535C>G (p.Pro1179Ala) rs2135118126
NM_001130144.3(LTBP3):c.3536C>T (p.Pro1179Leu)
NM_001130144.3(LTBP3):c.3541G>A (p.Gly1181Ser)
NM_001130144.3(LTBP3):c.3545C>T (p.Ala1182Val)
NM_001130144.3(LTBP3):c.3546G>T (p.Ala1182=)
NM_001130144.3(LTBP3):c.3551C>T (p.Ser1184Phe)
NM_001130144.3(LTBP3):c.3554A>G (p.His1185Arg)
NM_001130144.3(LTBP3):c.3565T>G (p.Ser1189Ala)
NM_001130144.3(LTBP3):c.3573C>A (p.Ser1191Arg) rs145046881
NM_001130144.3(LTBP3):c.3578G>A (p.Ser1193Asn)
NM_001130144.3(LTBP3):c.3602C>T (p.Pro1201Leu)
NM_001130144.3(LTBP3):c.3619C>G (p.Pro1207Ala)
NM_001130144.3(LTBP3):c.361G>A (p.Gly121Ser)
NM_001130144.3(LTBP3):c.3628G>C (p.Asp1210His) rs777097028
NM_001130144.3(LTBP3):c.3633G>C (p.Glu1211Asp)
NM_001130144.3(LTBP3):c.3644A>G (p.Glu1215Gly) rs1855958309
NM_001130144.3(LTBP3):c.3645GGA[1] (p.Glu1216del)
NM_001130144.3(LTBP3):c.3658G>A (p.Glu1220Lys)
NM_001130144.3(LTBP3):c.3674G>T (p.Ser1225Ile)
NM_001130144.3(LTBP3):c.367T>G (p.Cys123Gly)
NM_001130144.3(LTBP3):c.3680G>A (p.Arg1227His) rs1855956308
NM_001130144.3(LTBP3):c.3689C>G (p.Pro1230Arg) rs751706023
NM_001130144.3(LTBP3):c.3689_3692dup (p.Pro1232fs)
NM_001130144.3(LTBP3):c.3691C>T (p.Arg1231Trp)
NM_001130144.3(LTBP3):c.3722G>C (p.Gly1241Ala)
NM_001130144.3(LTBP3):c.3744_3745inv (p.Arg1249Gly)
NM_001130144.3(LTBP3):c.3749C>T (p.Ala1250Val)
NM_001130144.3(LTBP3):c.3756C>T (p.Cys1252=)
NM_001130144.3(LTBP3):c.3757G>A (p.Val1253Met)
NM_001130144.3(LTBP3):c.3761-2A>G
NM_001130144.3(LTBP3):c.3764T>C (p.Ile1255Thr)
NM_001130144.3(LTBP3):c.3765CGA[1] (p.Asp1256del)
NM_001130144.3(LTBP3):c.3769G>T (p.Glu1257Ter)
NM_001130144.3(LTBP3):c.3771G>C (p.Glu1257Asp)
NM_001130144.3(LTBP3):c.3776G>A (p.Arg1259Gln)
NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer)
NM_001130144.3(LTBP3):c.3786C>G (p.Asn1262Lys)
NM_001130144.3(LTBP3):c.3793G>C (p.Gly1265Arg)
NM_001130144.3(LTBP3):c.3820G>A (p.Val1274Met)
NM_001130144.3(LTBP3):c.3824A>G (p.Asn1275Ser)
NM_001130144.3(LTBP3):c.3836C>T (p.Ser1279Phe)
NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter)
NM_001130144.3(LTBP3):c.3842G>T (p.Arg1281Leu)
NM_001130144.3(LTBP3):c.3857C>T (p.Ala1286Val)
NM_001130144.3(LTBP3):c.3862T>C (p.Phe1288Leu)
NM_001130144.3(LTBP3):c.3866C>T (p.Ala1289Val)
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup) rs2135114515
NM_001130144.3(LTBP3):c.3878C>T (p.Pro1293Leu)
NM_001130144.3(LTBP3):c.3878_3907dup (p.Arg1302_Arg1303insProHisGlyAlaCysValProGlnArgArg)
NM_001130144.3(LTBP3):c.3883G>C (p.Gly1295Arg)
NM_001130144.3(LTBP3):c.3886G>A (p.Ala1296Thr)
NM_001130144.3(LTBP3):c.3900G>C (p.Gln1300His)
NM_001130144.3(LTBP3):c.3905G>A (p.Arg1302His)
NM_001130144.3(LTBP3):c.3905G>T (p.Arg1302Leu)
NM_001130144.3(LTBP3):c.3907C>A (p.Arg1303Ser)
NM_001130144.3(LTBP3):c.3908G>A (p.Arg1303His)
NM_001130144.3(LTBP3):c.3910_*6del (p.Ter1304del) rs779871744
NM_001130144.3(LTBP3):c.398C>G (p.Pro133Arg)
NM_001130144.3(LTBP3):c.398C>T (p.Pro133Leu)
NM_001130144.3(LTBP3):c.409G>A (p.Gly137Arg) rs2135160170
NM_001130144.3(LTBP3):c.410G>A (p.Gly137Glu)
NM_001130144.3(LTBP3):c.412C>T (p.Arg138Cys)
NM_001130144.3(LTBP3):c.422A>C (p.Gln141Pro)
NM_001130144.3(LTBP3):c.422A>T (p.Gln141Leu)
NM_001130144.3(LTBP3):c.427C>A (p.Pro143Thr)
NM_001130144.3(LTBP3):c.427C>T (p.Pro143Ser)
NM_001130144.3(LTBP3):c.430G>A (p.Ala144Thr) rs181842110
NM_001130144.3(LTBP3):c.430G>T (p.Ala144Ser) rs181842110
NM_001130144.3(LTBP3):c.448G>A (p.Gly150Ser)
NM_001130144.3(LTBP3):c.44T>C (p.Met15Thr)
NM_001130144.3(LTBP3):c.454G>A (p.Gly152Ser)
NM_001130144.3(LTBP3):c.461C>T (p.Ser154Leu) rs2135159939
NM_001130144.3(LTBP3):c.466C>A (p.Pro156Thr)
NM_001130144.3(LTBP3):c.469G>A (p.Gly157Ser)
NM_001130144.3(LTBP3):c.496A>G (p.Thr166Ala)
NM_001130144.3(LTBP3):c.4C>T (p.Pro2Ser)
NM_001130144.3(LTBP3):c.502G>T (p.Ala168Ser) rs1856724698
NM_001130144.3(LTBP3):c.517G>T (p.Ala173Ser)
NM_001130144.3(LTBP3):c.520C>G (p.Pro174Ala)
NM_001130144.3(LTBP3):c.526G>A (p.Gly176Ser)
NM_001130144.3(LTBP3):c.529G>A (p.Asp177Asn)
NM_001130144.3(LTBP3):c.52_66del (p.Ala18_Gly22del)
NM_001130144.3(LTBP3):c.535G>A (p.Val179Met) rs1158791095
NM_001130144.3(LTBP3):c.538G>A (p.Ala180Thr)
NM_001130144.3(LTBP3):c.545A>C (p.Lys182Thr)
NM_001130144.3(LTBP3):c.559G>A (p.Ala187Thr)
NM_001130144.3(LTBP3):c.580C>T (p.Pro194Ser)
NM_001130144.3(LTBP3):c.607G>A (p.Ala203Thr)
NM_001130144.3(LTBP3):c.616G>A (p.Ala206Thr)
NM_001130144.3(LTBP3):c.620C>T (p.Ala207Val) rs1856718865
NM_001130144.3(LTBP3):c.626T>C (p.Leu209Pro)
NM_001130144.3(LTBP3):c.62C>A (p.Ala21Glu)
NM_001130144.3(LTBP3):c.641C>T (p.Pro214Leu)
NM_001130144.3(LTBP3):c.644G>C (p.Gly215Ala)
NM_001130144.3(LTBP3):c.656C>T (p.Ala219Val)
NM_001130144.3(LTBP3):c.65G>A (p.Gly22Glu)
NM_001130144.3(LTBP3):c.666G>T (p.Gln222His)
NM_001130144.3(LTBP3):c.677C>G (p.Pro226Arg)
NM_001130144.3(LTBP3):c.679G>C (p.Val227Leu)
NM_001130144.3(LTBP3):c.703C>T (p.Pro235Ser)
NM_001130144.3(LTBP3):c.704C>G (p.Pro235Arg)
NM_001130144.3(LTBP3):c.712G>T (p.Ala238Ser)
NM_001130144.3(LTBP3):c.722A>C (p.Gln241Pro)
NM_001130144.3(LTBP3):c.74C>T (p.Ala25Val)
NM_001130144.3(LTBP3):c.752A>G (p.Glu251Gly)
NM_001130144.3(LTBP3):c.756C>A (p.Ser252Arg)
NM_001130144.3(LTBP3):c.766T>A (p.Ser256Thr)
NM_001130144.3(LTBP3):c.767C>T (p.Ser256Phe) rs2135158279
NM_001130144.3(LTBP3):c.76CTG[14] (p.Leu32_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[15] (p.Leu31_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[5] (p.Leu31_Leu35del)
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.76CTG[8] (p.Leu34_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.770A>G (p.Gln257Arg)
NM_001130144.3(LTBP3):c.776T>C (p.Leu259Pro)
NM_001130144.3(LTBP3):c.782C>A (p.Pro261Gln) rs765178350
NM_001130144.3(LTBP3):c.782C>G (p.Pro261Arg)
NM_001130144.3(LTBP3):c.7G>A (p.Gly3Arg) rs1394412946
NM_001130144.3(LTBP3):c.7G>C (p.Gly3Arg)
NM_001130144.3(LTBP3):c.802C>T (p.Pro268Ser) rs1325394664
NM_001130144.3(LTBP3):c.805C>G (p.Arg269Gly)
NM_001130144.3(LTBP3):c.811C>T (p.Pro271Ser) rs2135158119
NM_001130144.3(LTBP3):c.812C>G (p.Pro271Arg) rs768788797
NM_001130144.3(LTBP3):c.812C>T (p.Pro271Leu)
NM_001130144.3(LTBP3):c.814A>G (p.Thr272Ala)
NM_001130144.3(LTBP3):c.848C>G (p.Thr283Ser)
NM_001130144.3(LTBP3):c.876C>A (p.Asn292Lys)
NM_001130144.3(LTBP3):c.886G>C (p.Gly296Arg) rs1856688217
NM_001130144.3(LTBP3):c.892_893delinsCT (p.Thr298Leu) rs2135157538
NM_001130144.3(LTBP3):c.922G>A (p.Gly308Ser)
NM_001130144.3(LTBP3):c.926C>T (p.Thr309Ile) rs2135157407
NM_001130144.3(LTBP3):c.928G>A (p.Ala310Thr)
NM_001130144.3(LTBP3):c.942C>T (p.Ser314=)
NM_001130144.3(LTBP3):c.970+3G>A rs2135157236
NM_001142784.3(IL11RA):c.331+2T>C rs1554710108
NM_001159773.2(CANT1):c.*119G>A rs2070902561
NM_001159773.2(CANT1):c.*1264_*1265dup rs886053521
NM_001159773.2(CANT1):c.*1359C>T rs992643827
NM_001159773.2(CANT1):c.*1424GAAG[1] rs567566510
NM_001159773.2(CANT1):c.*163C>G rs529224814
NM_001159773.2(CANT1):c.*1731C>T rs2070850838
NM_001159773.2(CANT1):c.*24G>A rs760356756
NM_001159773.2(CANT1):c.*374C>T rs560554427
NM_001159773.2(CANT1):c.*450A>G rs886053523
NM_001159773.2(CANT1):c.*550A>C rs886053522
NM_001159773.2(CANT1):c.*569C>T rs2070889534
NM_001159773.2(CANT1):c.*753C>A rs745568057
NM_001159773.2(CANT1):c.*781C>A rs764123397
NM_001159773.2(CANT1):c.*813G>C rs535754990
NM_001159773.2(CANT1):c.*837C>T rs781025439
NM_001159773.2(CANT1):c.*998G>C rs78037898
NM_001159773.2(CANT1):c.-127C>A rs868277630
NM_001159773.2(CANT1):c.-164G>A rs886053532
NM_001159773.2(CANT1):c.-23+60A>G rs2071093869
NM_001159773.2(CANT1):c.-23+79T>C rs548338706
NM_001159773.2(CANT1):c.-81G>A rs886053530
NM_001159773.2(CANT1):c.187C>A (p.Arg63Ser) rs760657405
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro) rs767659113
NM_001159773.2(CANT1):c.266A>T (p.Asp89Val) rs773784258
NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu) rs375718883
NM_001159773.2(CANT1):c.54C>T (p.Leu18=) rs2071085962
NM_001159773.2(CANT1):c.570C>T (p.Ile190=) rs376733332
NM_001159773.2(CANT1):c.627G>T (p.Glu209Asp) rs2071055518
NM_001159773.2(CANT1):c.631+11C>A rs2145839791
NM_001159773.2(CANT1):c.702G>A (p.Thr234=) rs1023756732
NM_001159773.2(CANT1):c.780G>T (p.Glu260Asp) rs1438123632
NM_001159773.2(CANT1):c.835+10G>C rs779296231
NM_001165967.2(HES7):c.173T>G (p.Ile58Arg)
NM_001173467.3(SP7):c.1093C>T (p.Arg365Ter) rs1427780619
NM_001173467.3(SP7):c.135_136del (p.Lys46fs) rs546981961
NM_001173467.3(SP7):c.144C>G (p.Tyr48Ter) rs1944675478
NM_001173467.3(SP7):c.184G>T (p.Asp62Tyr) rs2136836404
NM_001173467.3(SP7):c.455G>C (p.Gly152Ala)
NM_001173467.3(SP7):c.500G>A (p.Trp167Ter) rs1294471020
NM_001173467.3(SP7):c.675C>T (p.Pro225=) rs1250981237
NM_001173467.3(SP7):c.973G>A (p.Val325Ile)
NM_001174147.2(LMX1B):c.*105C>G rs953659561
NM_001174147.2(LMX1B):c.*1115T>A rs886063425
NM_001174147.2(LMX1B):c.*1164A>T rs2030387692
NM_001174147.2(LMX1B):c.*1387TGTTT[10] rs59836255
NM_001174147.2(LMX1B):c.*1387TGTTT[12] rs59836255
NM_001174147.2(LMX1B):c.*1387TGTTT[8] rs59836255
NM_001174147.2(LMX1B):c.*1389_*1398delinsGTTTT rs886063427
NM_001174147.2(LMX1B):c.*1389_*1408delinsGTTTT rs886063428
NM_001174147.2(LMX1B):c.*1531T>G rs886063429
NM_001174147.2(LMX1B):c.*1542A>G rs886063430
NM_001174147.2(LMX1B):c.*1612C>T rs767599284
NM_001174147.2(LMX1B):c.*1737T>C rs886063433
NM_001174147.2(LMX1B):c.*17C>T rs754093597
NM_001174147.2(LMX1B):c.*1935G>A rs886063435
NM_001174147.2(LMX1B):c.*2062C>A rs1453922739
NM_001174147.2(LMX1B):c.*2344C>T rs983206651
NM_001174147.2(LMX1B):c.*2456CTT[1] rs886063436
NM_001174147.2(LMX1B):c.*253C>T rs748844195
NM_001174147.2(LMX1B):c.*2612T>C rs886063437
NM_001174147.2(LMX1B):c.*277C>T rs886063421
NM_001174147.2(LMX1B):c.*3021T>G rs886063438
NM_001174147.2(LMX1B):c.*3052T>C rs2030467754
NM_001174147.2(LMX1B):c.*3274T>G rs539927124
NM_001174147.2(LMX1B):c.*3335A>G rs2030478207
NM_001174147.2(LMX1B):c.*3346G>T rs7023938
NM_001174147.2(LMX1B):c.*3400G>A rs886063441
NM_001174147.2(LMX1B):c.*3403C>G rs776860982
NM_001174147.2(LMX1B):c.*3799G>T rs2030493794
NM_001174147.2(LMX1B):c.*3908T>C rs886063446
NM_001174147.2(LMX1B):c.*4303T>C rs545179114
NM_001174147.2(LMX1B):c.*4303T>G rs545179114
NM_001174147.2(LMX1B):c.*4331T>C rs886063448
NM_001174147.2(LMX1B):c.*4568C>A rs539011309
NM_001174147.2(LMX1B):c.*575G>T rs549542139
NM_001174147.2(LMX1B):c.*59C>T rs886063420
NM_001174147.2(LMX1B):c.*745G>A rs2030369522
NM_001174147.2(LMX1B):c.*764A>C rs897459902
NM_001174147.2(LMX1B):c.1052-5C>A rs886063419
NM_001174147.2(LMX1B):c.139+5G>C rs1114167421
NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp) rs2118823518
NM_001174147.2(LMX1B):c.253G>A (p.Ala85Thr) rs1289892661
NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys) rs149434820
NM_001174147.2(LMX1B):c.628G>C (p.Gly210Arg) rs754095270
NM_001174147.2(LMX1B):c.647C>T (p.Pro216Leu) rs779417752
NM_001174147.2(LMX1B):c.820-13G>A rs914683099
NM_001174147.2(LMX1B):c.886+36G>A
NM_001174147.2(LMX1B):c.94G>A (p.Glu32Lys) rs748676035
NM_001189.4(NKX3-2):c.295G>A (p.Glu99Lys) rs1718061894
NM_001203.3(BMPR1B):c.-17-52823C>T
NM_001203.3(BMPR1B):c.1012A>G (p.Ile338Val)
NM_001203.3(BMPR1B):c.1023G>C (p.Lys341Asn)
NM_001203.3(BMPR1B):c.1093G>A (p.Asp365Asn)
NM_001203.3(BMPR1B):c.1094A>G (p.Asp365Gly)
NM_001203.3(BMPR1B):c.1097T>C (p.Ile366Thr)
NM_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp) rs2149325883
NM_001203.3(BMPR1B):c.1171C>T (p.His391Tyr)
NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr)
NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly) rs1190618723
NM_001203.3(BMPR1B):c.1238G>C (p.Arg413Thr)
NM_001203.3(BMPR1B):c.1252+410A>G
NM_001203.3(BMPR1B):c.1367G>T (p.Arg456Leu)
NM_001203.3(BMPR1B):c.1385G>T (p.Cys462Phe)
NM_001203.3(BMPR1B):c.1393C>T (p.Gln465Ter)
NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu)
NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala)
NM_001203.3(BMPR1B):c.1411A>G (p.Thr471Ala) rs752827445
NM_001203.3(BMPR1B):c.244C>T (p.Arg82Trp) rs2149277836
NM_001203.3(BMPR1B):c.247-3T>C
NM_001203.3(BMPR1B):c.247G>A (p.Asp83Asn)
NM_001203.3(BMPR1B):c.247G>C (p.Asp83His)
NM_001203.3(BMPR1B):c.247G>T (p.Asp83Tyr)
NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile)
NM_001203.3(BMPR1B):c.289A>T (p.Thr97Ser)
NM_001203.3(BMPR1B):c.419T>G (p.Val140Gly)
NM_001203.3(BMPR1B):c.425T>C (p.Ile142Thr)
NM_001203.3(BMPR1B):c.440A>G (p.Tyr147Cys)
NM_001203.3(BMPR1B):c.464C>G (p.Thr155Ser)
NM_001203.3(BMPR1B):c.470C>G (p.Pro157Arg) rs2149292391
NM_001203.3(BMPR1B):c.470C>T (p.Pro157Leu) rs2149292391
NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) rs1579119447
NM_001203.3(BMPR1B):c.47A>G (p.Glu16Gly)
NM_001203.3(BMPR1B):c.487T>A (p.Leu163Ile) rs1438025940
NM_001203.3(BMPR1B):c.496G>A (p.Asp166Asn)
NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly) rs781670372
NM_001203.3(BMPR1B):c.503C>G (p.Thr168Ser)
NM_001203.3(BMPR1B):c.524C>G (p.Ser175Cys)
NM_001203.3(BMPR1B):c.524C>T (p.Ser175Phe)
NM_001203.3(BMPR1B):c.527T>C (p.Leu176Pro)
NM_001203.3(BMPR1B):c.556T>A (p.Ser186Thr)
NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln)
NM_001203.3(BMPR1B):c.585+10_585+12del
NM_001203.3(BMPR1B):c.616A>G (p.Met206Val)
NM_001203.3(BMPR1B):c.621_622delinsCC (p.Lys208Gln)
NM_001203.3(BMPR1B):c.622A>G (p.Lys208Glu)
NM_001203.3(BMPR1B):c.67C>G (p.Pro23Ala)
NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala) rs754365645
NM_001203.3(BMPR1B):c.724T>C (p.Phe242Leu) rs761226009
NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) rs761226009
NM_001203.3(BMPR1B):c.725T>A (p.Phe242Tyr)
NM_001203.3(BMPR1B):c.725T>G (p.Phe242Cys)
NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala)
NM_001203.3(BMPR1B):c.737A>T (p.Glu246Val) rs779737736
NM_001203.3(BMPR1B):c.746A>T (p.Gln249Leu) rs187868598
NM_001203.3(BMPR1B):c.790G>T (p.Ala264Ser)
NM_001203.3(BMPR1B):c.836C>T (p.Thr279Ile)
NM_001203.3(BMPR1B):c.842A>G (p.Tyr281Cys)
NM_001203.3(BMPR1B):c.851A>C (p.Asn284Thr)
NM_001203.3(BMPR1B):c.85G>T (p.Val29Phe)
NM_001203.3(BMPR1B):c.875A>G (p.Lys292Arg)
NM_001203.3(BMPR1B):c.899C>T (p.Ser300Leu)
NM_001203.3(BMPR1B):c.928A>G (p.Ser310Gly)
NM_001203.3(BMPR1B):c.979G>A (p.Ala327Thr)
NM_001203.3(BMPR1B):c.997C>G (p.Leu333Val)
NM_001205.3(BNIP1):c.84+3A>T rs2113831423
NM_001235.3(SERPINH1):c.-211G>A rs564033612
NM_001235.5(SERPINH1):c.*511G>A rs886048662
NM_001235.5(SERPINH1):c.*668A>G rs185499724
NM_001235.5(SERPINH1):c.*73G>T rs1018656928
NM_001235.5(SERPINH1):c.*74G>A rs116470636
NM_001235.5(SERPINH1):c.1020G>A (p.Met340Ile)
NM_001235.5(SERPINH1):c.119C>T (p.Ala40Val)
NM_001235.5(SERPINH1):c.1244G>A (p.Arg415Gln)
NM_001235.5(SERPINH1):c.339G>C (p.Glu113Asp) rs763945752
NM_001235.5(SERPINH1):c.370C>T (p.Arg124Cys) rs1942088242
NM_001235.5(SERPINH1):c.480G>C (p.Lys160Asn) rs886048661
NM_001235.5(SERPINH1):c.588C>T (p.Asp196=) rs1232634716
NM_001235.5(SERPINH1):c.918del (p.Leu306fs) rs1565243329
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
NM_001271938.2(MEGF8):c.1028A>G (p.Asp343Gly)
NM_001271938.2(MEGF8):c.1031A>G (p.Asp344Gly)
NM_001271938.2(MEGF8):c.1085G>T (p.Gly362Val)
NM_001271938.2(MEGF8):c.1117G>A (p.Gly373Arg)
NM_001271938.2(MEGF8):c.112C>T (p.Arg38Trp)
NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
NM_001271938.2(MEGF8):c.1282G>A (p.Val428Met)
NM_001271938.2(MEGF8):c.1304C>T (p.Thr435Met)
NM_001271938.2(MEGF8):c.1343G>A (p.Arg448Gln)
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val) rs764773192
NM_001271938.2(MEGF8):c.1706G>A (p.Ser569Asn)
NM_001271938.2(MEGF8):c.1707C>G (p.Ser569Arg)
NM_001271938.2(MEGF8):c.172G>A (p.Glu58Lys)
NM_001271938.2(MEGF8):c.1850C>T (p.Ala617Val)
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala) rs2039264644
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser) rs2147472784
NM_001271938.2(MEGF8):c.2660G>A (p.Gly887Asp)
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu) rs2039350288
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe) rs777017134
NM_001271938.2(MEGF8):c.2843C>G (p.Pro948Arg) rs771693018
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
NM_001271938.2(MEGF8):c.320G>A (p.Arg107Gln)
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val) rs2039399285
NM_001271938.2(MEGF8):c.3481C>T (p.Arg1161Trp)
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
NM_001271938.2(MEGF8):c.3599G>A (p.Gly1200Asp)
NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)
NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met) rs770399527
NM_001271938.2(MEGF8):c.3842G>A (p.Arg1281Gln)
NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)
NM_001271938.2(MEGF8):c.3964C>T (p.Pro1322Ser)
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
NM_001271938.2(MEGF8):c.4144+4C>T
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His) rs541874206
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg) rs1285619780
NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly) rs1050352479
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys) rs770879154
NM_001271938.2(MEGF8):c.5023C>T (p.His1675Tyr) rs2039479348
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
NM_001271938.2(MEGF8):c.5170G>A (p.Ala1724Thr)
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile) rs761809949
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe) rs1201933643
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr) rs2147493826
NM_001271938.2(MEGF8):c.5848T>A (p.Ser1950Thr) rs1409781298
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His) rs201881006
NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=) rs536661123
NM_001271938.2(MEGF8):c.6004G>A (p.Glu2002Lys)
NM_001271938.2(MEGF8):c.6057A>G (p.Thr2019=)
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr) rs2147497843
NM_001271938.2(MEGF8):c.6200G>A (p.Cys2067Tyr)
NM_001271938.2(MEGF8):c.6211C>A (p.Leu2071Met)
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His) rs1399203080
NM_001271938.2(MEGF8):c.6301C>G (p.Arg2101Gly) rs2147506322
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
NM_001271938.2(MEGF8):c.6571G>A (p.Glu2191Lys) rs760913754
NM_001271938.2(MEGF8):c.6601G>A (p.Gly2201Ser)
NM_001271938.2(MEGF8):c.6641+14C>T
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
NM_001271938.2(MEGF8):c.68C>T (p.Pro23Leu)
NM_001271938.2(MEGF8):c.6910G>A (p.Ala2304Thr)
NM_001271938.2(MEGF8):c.6920G>T (p.Arg2307Leu) rs142506261
NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
NM_001271938.2(MEGF8):c.7269+19G>A
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser) rs2039754626
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys) rs769273382
NM_001271938.2(MEGF8):c.7475C>T (p.Thr2492Met)
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe) rs773064133
NM_001271938.2(MEGF8):c.7492G>A (p.Gly2498Arg)
NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)
NM_001271938.2(MEGF8):c.7541G>A (p.Arg2514His)
NM_001271938.2(MEGF8):c.7598C>T (p.Pro2533Leu) rs2147519774
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
NM_001271938.2(MEGF8):c.7783C>T (p.Arg2595Trp)
NM_001271938.2(MEGF8):c.7786C>A (p.Leu2596Met) rs140517402
NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu) rs377001753
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8140G>T (p.Ala2714Ser) rs548176972
NM_001271938.2(MEGF8):c.8221G>A (p.Gly2741Ser)
NM_001271938.2(MEGF8):c.8227C>T (p.Pro2743Ser)
NM_001271938.2(MEGF8):c.8242G>C (p.Gly2748Arg) rs2147521006
NM_001271938.2(MEGF8):c.8446G>T (p.Gly2816Cys)
NM_001276290.1(PRKAR1A):c.973+3439G>T rs2086031493
NM_001278689.2(EOGT):c.1152+4A>G
NM_001278689.2(EOGT):c.118A>T (p.Ile40Phe) rs2107402281
NM_001278689.2(EOGT):c.1386C>T (p.Gly462=) rs1575701273
NM_001278689.2(EOGT):c.1396A>G (p.Ile466Val)
NM_001278689.2(EOGT):c.1404G>A (p.Trp468Ter) rs1179649831
NM_001278689.2(EOGT):c.1408C>T (p.Arg470Trp)
NM_001278689.2(EOGT):c.1412A>G (p.Gln471Arg)
NM_001278689.2(EOGT):c.1440_1441delinsTT (p.His481Tyr)
NM_001278689.2(EOGT):c.1442A>G (p.His481Arg)
NM_001278689.2(EOGT):c.1443C>A (p.His481Gln)
NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly)
NM_001278689.2(EOGT):c.1531C>T (p.His511Tyr)
NM_001278689.2(EOGT):c.1534G>A (p.Val512Ile)
NM_001278689.2(EOGT):c.164G>A (p.Arg55Lys)
NM_001278689.2(EOGT):c.202C>G (p.Pro68Ala)
NM_001278689.2(EOGT):c.280T>C (p.Tyr94His)
NM_001278689.2(EOGT):c.293G>A (p.Ser98Asn)
NM_001278689.2(EOGT):c.305T>A (p.Met102Lys)
NM_001278689.2(EOGT):c.350A>G (p.Lys117Arg)
NM_001278689.2(EOGT):c.404G>C (p.Cys135Ser)
NM_001278689.2(EOGT):c.421-8A>G
NM_001278689.2(EOGT):c.430A>G (p.Ser144Gly)
NM_001278689.2(EOGT):c.455A>T (p.Gln152Leu) rs2091407941
NM_001278689.2(EOGT):c.469A>G (p.Thr157Ala)
NM_001278689.2(EOGT):c.599G>A (p.Arg200His)
NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr) rs2091384133
NM_001278689.2(EOGT):c.647A>G (p.Gln216Arg)
NM_001278689.2(EOGT):c.701C>A (p.Pro234Gln)
NM_001278689.2(EOGT):c.701C>G (p.Pro234Arg) rs766531917
NM_001278689.2(EOGT):c.754G>A (p.Asp252Asn)
NM_001278689.2(EOGT):c.79C>T (p.His27Tyr)
NM_001278689.2(EOGT):c.831+10A>T
NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter) rs2107224808
NM_001281463.1(SMC1A):c.-275G>T rs1026058160
NM_001286577.2(C2CD3):c.1048C>G (p.His350Asp)
NM_001286577.2(C2CD3):c.185G>C (p.Arg62Pro) rs138748539
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys) rs1590991247
NM_001286577.2(C2CD3):c.2220G>A (p.Met740Ile) rs1956396903
NM_001286577.2(C2CD3):c.2704C>A (p.Pro902Thr) rs990276989
NM_001286577.2(C2CD3):c.3182G>C (p.Arg1061Thr)
NM_001286577.2(C2CD3):c.3967G>T (p.Val1323Phe) rs1955571784
NM_001286577.2(C2CD3):c.5500G>T (p.Asp1834Tyr) rs1591315135
NM_001286577.2(C2CD3):c.5784C>A (p.Asp1928Glu)
NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=)
NM_001330677.2(TBX15):c.1609G>A (p.Ala537Thr)
NM_001330677.2(TBX15):c.493A>G (p.Ile165Val)
NM_001330677.2(TBX15):c.943A>G (p.Ile315Val) rs867929526
NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup) rs61462443
NM_001351601.3(INTS6L):c.359del (p.Phe119_Leu120insTer) rs782242788
NM_001353214.3(DYM):c.-251G>T rs886053852
NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg) rs1260746745
NM_001353214.3(DYM):c.1115T>C (p.Met372Thr) rs886053844
NM_001353214.3(DYM):c.1116G>A (p.Met372Ile) rs775476671
NM_001353214.3(DYM):c.1626-14_1626-4del
NM_001353214.3(DYM):c.2053G>A (p.Val685Met) rs757286463
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr) rs528865224
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) rs120074164
NM_001353214.3(DYM):c.297C>T (p.Phe99=) rs886053847
NM_001353214.3(DYM):c.42T>G (p.Asn14Lys) rs768630165
NM_001353214.3(DYM):c.550T>C (p.Ser184Pro) rs2063482690
NM_001353214.3(DYM):c.831T>C (p.Ser277=) rs886053846
NM_001353214.3(DYM):c.961C>T (p.Pro321Ser) rs886053845
NM_001361.5(DHODH):c.*1035_*1038del rs886052283
NM_001361.5(DHODH):c.*189C>T rs750442401
NM_001361.5(DHODH):c.*216G>A rs549374844
NM_001361.5(DHODH):c.*500G>A rs886052281
NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala) rs770803023
NM_001361.5(DHODH):c.14A>G (p.His5Arg) rs1430616655
NM_001361.5(DHODH):c.262C>T (p.Arg88Ter)
NM_001361.5(DHODH):c.498G>A (p.Lys166=) rs199920621
NM_001361.5(DHODH):c.505A>C (p.Lys169Gln) rs1243279715
NM_001361.5(DHODH):c.616G>A (p.Asp206Asn)
NM_001361.5(DHODH):c.72C>G (p.Phe24Leu) rs61753576
NM_001361.5(DHODH):c.731G>A (p.Arg244Gln)
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr) rs200549060
NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser) rs886052279
NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys) rs886052279
NM_001361.5(DHODH):c.95G>T (p.Gly32Val)
NM_001361.5(DHODH):c.973+11C>T rs2041242918
NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn) rs1555454545
NM_001369268.1(ACAN):c.1575C>G (p.Asp525Glu) rs367724066
NM_001369268.1(ACAN):c.1817C>G (p.Ala606Gly) rs757476544
NM_001369268.1(ACAN):c.188C>A (p.Ala63Asp)
NM_001369268.1(ACAN):c.262G>A (p.Val88Met) rs1896574687
NM_001369268.1(ACAN):c.37del (p.Val13fs) rs1596128744
NM_001369268.1(ACAN):c.5434G>A (p.Val1812Ile) rs1897100294
NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp) rs34124958
NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr) rs1596148604
NM_001369268.1(ACAN):c.7508G>A (p.Arg2503Gln)
NM_001374353.1(GLI2):c.1022T>G (p.Leu341Arg)
NM_001374353.1(GLI2):c.1079C>T (p.Ser360Leu)
NM_001374353.1(GLI2):c.109G>A (p.Val37Met)
NM_001374353.1(GLI2):c.1136C>A (p.Thr379Asn)
NM_001374353.1(GLI2):c.1177A>G (p.Thr393Ala)
NM_001374353.1(GLI2):c.1262A>G (p.Asn421Ser)
NM_001374353.1(GLI2):c.1263C>G (p.Asn421Lys)
NM_001374353.1(GLI2):c.1300C>G (p.Gln434Glu) rs767205563
NM_001374353.1(GLI2):c.1330G>A (p.Glu444Lys)
NM_001374353.1(GLI2):c.1342G>A (p.Gly448Arg)
NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro) rs772017351
NM_001374353.1(GLI2):c.140C>T (p.Ala47Val)
NM_001374353.1(GLI2):c.1433G>A (p.Arg478Gln) rs2105051121
NM_001374353.1(GLI2):c.1447G>A (p.Glu483Lys)
NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met)
NM_001374353.1(GLI2):c.1468-13C>A
NM_001374353.1(GLI2):c.1472A>C (p.Glu491Ala)
NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del) rs1682772612
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) rs1553477146
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
NM_001374353.1(GLI2):c.1537G>C (p.Glu513Gln)
NM_001374353.1(GLI2):c.1571A>T (p.Asn524Ile) rs2105064513
NM_001374353.1(GLI2):c.1589C>T (p.Ala530Val)
NM_001374353.1(GLI2):c.1658G>T (p.Gly553Val)
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His) rs763503195
NM_001374353.1(GLI2):c.1691T>G (p.Leu564Arg) rs2105070545
NM_001374353.1(GLI2):c.1798G>A (p.Glu600Lys) rs2105071104
NM_001374353.1(GLI2):c.1805G>A (p.Gly602Asp)
NM_001374353.1(GLI2):c.1819G>A (p.Gly607Ser)
NM_001374353.1(GLI2):c.1868G>C (p.Cys623Ser)
NM_001374353.1(GLI2):c.1897A>C (p.Ser633Arg)
NM_001374353.1(GLI2):c.1903G>A (p.Gly635Arg)
NM_001374353.1(GLI2):c.1905+3A>G
NM_001374353.1(GLI2):c.1907T>C (p.Leu636Pro) rs1373160690
NM_001374353.1(GLI2):c.1934C>T (p.Ser645Leu)
NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)
NM_001374353.1(GLI2):c.198G>A (p.Met66Ile) rs2104869716
NM_001374353.1(GLI2):c.2028C>A (p.Asp676Glu)
NM_001374353.1(GLI2):c.2033C>T (p.Thr678Met)
NM_001374353.1(GLI2):c.2089G>T (p.Ala697Ser)
NM_001374353.1(GLI2):c.2152_2154del (p.Glu718del) rs1682985936
NM_001374353.1(GLI2):c.2161A>C (p.Lys721Gln)
NM_001374353.1(GLI2):c.2162A>G (p.Lys721Arg)
NM_001374353.1(GLI2):c.2177C>T (p.Ser726Phe)
NM_001374353.1(GLI2):c.2210G>A (p.Arg737Gln) rs144782119
NM_001374353.1(GLI2):c.2210G>C (p.Arg737Pro) rs144782119
NM_001374353.1(GLI2):c.2242G>A (p.Gly748Ser)
NM_001374353.1(GLI2):c.2243G>C (p.Gly748Ala)
NM_001374353.1(GLI2):c.2245T>C (p.Ser749Pro)
NM_001374353.1(GLI2):c.2288C>T (p.Ala763Val)
NM_001374353.1(GLI2):c.2291G>A (p.Gly764Glu)
NM_001374353.1(GLI2):c.2440_2442del (p.Ser815del) rs770837314
NM_001374353.1(GLI2):c.2453C>G (p.Ser818Cys)
NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)
NM_001374353.1(GLI2):c.2561A>G (p.Gln854Arg)
NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val)
NM_001374353.1(GLI2):c.2714C>T (p.Ala905Val)
NM_001374353.1(GLI2):c.2715_2735dup (p.Ala912_Gly913insProGluArgThrLeuProAla)
NM_001374353.1(GLI2):c.271G>A (p.Gly91Ser)
NM_001374353.1(GLI2):c.2732C>T (p.Pro911Leu)
NM_001374353.1(GLI2):c.2747G>A (p.Arg916His)
NM_001374353.1(GLI2):c.2789G>A (p.Gly930Asp)
NM_001374353.1(GLI2):c.2797C>G (p.His933Asp)
NM_001374353.1(GLI2):c.2836G>A (p.Gly946Ser) rs2105088610
NM_001374353.1(GLI2):c.285C>G (p.Ile95Met)
NM_001374353.1(GLI2):c.2860G>A (p.Asp954Asn) rs1683119644
NM_001374353.1(GLI2):c.2872C>T (p.Arg958Trp)
NM_001374353.1(GLI2):c.2893C>A (p.Pro965Thr)
NM_001374353.1(GLI2):c.2905C>T (p.Arg969Cys)
NM_001374353.1(GLI2):c.2912dup (p.His971fs)
NM_001374353.1(GLI2):c.292A>G (p.Ile98Val)
NM_001374353.1(GLI2):c.2933C>G (p.Pro978Arg)
NM_001374353.1(GLI2):c.294C>G (p.Ile98Met)
NM_001374353.1(GLI2):c.2956G>A (p.Asp986Asn)
NM_001374353.1(GLI2):c.3007G>C (p.Ala1003Pro)
NM_001374353.1(GLI2):c.3020A>G (p.Tyr1007Cys)
NM_001374353.1(GLI2):c.304C>T (p.Arg102Trp)
NM_001374353.1(GLI2):c.3172A>G (p.Ser1058Gly)
NM_001374353.1(GLI2):c.317A>G (p.His106Arg)
NM_001374353.1(GLI2):c.3196G>A (p.Gly1066Arg)
NM_001374353.1(GLI2):c.3230C>T (p.Ser1077Phe)
NM_001374353.1(GLI2):c.3265G>C (p.Gly1089Arg)
NM_001374353.1(GLI2):c.3293C>T (p.Ser1098Phe)
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys) rs368638181
NM_001374353.1(GLI2):c.3350C>T (p.Pro1117Leu)
NM_001374353.1(GLI2):c.3361A>G (p.Asn1121Asp)
NM_001374353.1(GLI2):c.3364A>G (p.Lys1122Glu)
NM_001374353.1(GLI2):c.3409G>T (p.Val1137Leu)
NM_001374353.1(GLI2):c.3418C>G (p.Leu1140Val)
NM_001374353.1(GLI2):c.3459C>G (p.Asn1153Lys)
NM_001374353.1(GLI2):c.3466G>T (p.Val1156Leu)
NM_001374353.1(GLI2):c.3482C>G (p.Pro1161Arg) rs2105092684
NM_001374353.1(GLI2):c.3577G>A (p.Gly1193Arg)
NM_001374353.1(GLI2):c.3583C>T (p.Pro1195Ser)
NM_001374353.1(GLI2):c.3644G>A (p.Ser1215Asn)
NM_001374353.1(GLI2):c.364G>T (p.Val122Leu)
NM_001374353.1(GLI2):c.3665C>T (p.Thr1222Ile)
NM_001374353.1(GLI2):c.3689A>G (p.Tyr1230Cys)
NM_001374353.1(GLI2):c.3696A>C (p.Gln1232His)
NM_001374353.1(GLI2):c.3701A>C (p.His1234Pro)
NM_001374353.1(GLI2):c.3706C>G (p.Gln1236Glu)
NM_001374353.1(GLI2):c.3766A>G (p.Met1256Val)
NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp) rs2105094470
NM_001374353.1(GLI2):c.3839A>G (p.Asn1280Ser)
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) rs767845340
NM_001374353.1(GLI2):c.3887_3888inv (p.Pro1296Leu)
NM_001374353.1(GLI2):c.3901G>A (p.Val1301Ile)
NM_001374353.1(GLI2):c.3905A>G (p.Gln1302Arg)
NM_001374353.1(GLI2):c.3967G>C (p.Val1323Leu)
NM_001374353.1(GLI2):c.4018G>A (p.Gly1340Ser)
NM_001374353.1(GLI2):c.4019G>A (p.Gly1340Asp)
NM_001374353.1(GLI2):c.4028G>C (p.Gly1343Ala)
NM_001374353.1(GLI2):c.4039G>A (p.Ala1347Thr)
NM_001374353.1(GLI2):c.4127T>G (p.Leu1376Arg)
NM_001374353.1(GLI2):c.4157T>C (p.Met1386Thr)
NM_001374353.1(GLI2):c.4184C>T (p.Thr1395Ile)
NM_001374353.1(GLI2):c.4189G>C (p.Glu1397Gln)
NM_001374353.1(GLI2):c.4292A>G (p.Tyr1431Cys)
NM_001374353.1(GLI2):c.4307T>C (p.Met1436Thr) rs886054818
NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp) rs1683230678
NM_001374353.1(GLI2):c.4357C>T (p.Arg1453Trp)
NM_001374353.1(GLI2):c.4361C>G (p.Ser1454Cys)
NM_001374353.1(GLI2):c.4434G>C (p.Gln1478His)
NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr) rs1187651972
NM_001374353.1(GLI2):c.4476G>T (p.Gln1492His)
NM_001374353.1(GLI2):c.4495A>G (p.Met1499Val)
NM_001374353.1(GLI2):c.449C>T (p.Pro150Leu) rs2104951410
NM_001374353.1(GLI2):c.4504G>A (p.Gly1502Ser)
NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro) rs781771721
NM_001374353.1(GLI2):c.4526C>T (p.Ser1509Leu)
NM_001374353.1(GLI2):c.4528G>C (p.Gly1510Arg)
NM_001374353.1(GLI2):c.4532C>T (p.Ala1511Val)
NM_001374353.1(GLI2):c.4552C>T (p.His1518Tyr)
NM_001374353.1(GLI2):c.4586C>T (p.Thr1529Ile)
NM_001374353.1(GLI2):c.4621G>A (p.Ala1541Thr)
NM_001374353.1(GLI2):c.466G>A (p.Glu156Lys) rs1681195414
NM_001374353.1(GLI2):c.493G>T (p.Gly165Cys)
NM_001374353.1(GLI2):c.508G>C (p.Gly170Arg)
NM_001374353.1(GLI2):c.539T>G (p.Met180Arg)
NM_001374353.1(GLI2):c.547G>A (p.Val183Met)
NM_001374353.1(GLI2):c.562G>A (p.Ala188Thr)
NM_001374353.1(GLI2):c.56T>A (p.Ile19Asn) rs750880487
NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys)
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro) rs1558923316
NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)
NM_001374353.1(GLI2):c.770T>C (p.Val257Ala) rs1573698341
NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln)
NM_001374353.1(GLI2):c.862C>T (p.Pro288Ser)
NM_001374353.1(GLI2):c.908A>C (p.Gln303Pro)
NM_001374353.1(GLI2):c.94G>A (p.Ala32Thr)
NM_001374353.1(GLI2):c.968T>C (p.Phe323Ser)
NM_001374353.1(GLI2):c.971T>C (p.Leu324Pro)
NM_001374353.1(GLI2):c.985A>G (p.Met329Val)
NM_001375905.1(SGMS2):c.641T>C (p.Ile214Thr)
NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile) rs1298355353
NM_001379081.2(FREM1):c.3355G>T (p.Asp1119Tyr) rs753814072
NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser) rs747949999
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) rs774280190
NM_001379081.2(FREM1):c.3694+6G>C rs749794055
NM_001379081.2(FREM1):c.4055G>C (p.Arg1352Thr) rs547296209
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=) rs561131255
NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp) rs200489692
NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile) rs886063764
NM_001379081.2(FREM1):c.922G>C (p.Asp308His) rs764642854
NM_001379291.1(BRD4):c.1164C>A (p.His388Gln) rs200443528
NM_001379291.1(BRD4):c.1292A>C (p.Lys431Thr)
NM_001379291.1(BRD4):c.1946C>G (p.Pro649Arg)
NM_001379291.1(BRD4):c.2135C>T (p.Ser712Phe) rs768842514
NM_001379291.1(BRD4):c.2800_2808del (p.Gln934_Gln936del)
NM_001379291.1(BRD4):c.2825C>T (p.Thr942Met)
NM_001384732.1(CPLANE1):c.1103A>G (p.His368Arg) rs1286291749
NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser) rs1194762831
NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala) rs1002297986
NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile) rs2150434091
NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly) rs1487026046
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3777_3788del (p.His1260_Asp1263del) rs566159499
NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe) rs2151179962
NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu) rs1783222163
NM_001384732.1(CPLANE1):c.5040A>T (p.Leu1680Phe) rs1783124765
NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu) rs2151150270
NM_001384732.1(CPLANE1):c.5255G>A (p.Arg1752Lys) rs763933855
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile) rs771457677
NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr) rs1218344038
NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys) rs186460995
NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=)
NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val) rs538086941
NM_001384732.1(CPLANE1):c.7534-4_7534-3del rs1381389715
NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile) rs988332114
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu) rs772274656
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.8373+3A>G rs780519767
NM_001384732.1(CPLANE1):c.8462-6G>C rs1029215971
NM_001384732.1(CPLANE1):c.8664-19A>G rs2150360134
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del) rs1797611349
NM_001395413.1(POR):c.*147CTC[1] rs886062444
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163
NM_001395891.1(CLASP1):c.196-601A>C rs767236617
NM_001429.4(EP300):c.*40_*44del rs751376755
NM_001429.4(EP300):c.*591_*592dup rs60283061
NM_001429.4(EP300):c.*592del rs60283061
NM_001429.4(EP300):c.*592dup rs60283061
NM_001429.4(EP300):c.*785_*786del rs886057577
NM_001429.4(EP300):c.*921dup rs1161532977
NM_001429.4(EP300):c.*922_*930delinsC rs1555912614
NM_001429.4(EP300):c.*922_*930delinsCCC rs1555912614
NM_001429.4(EP300):c.*922_*932delinsC rs886057580
NM_001429.4(EP300):c.*922_*932delinsCCC rs886057580
NM_001429.4(EP300):c.*922_*938delinsC rs886057581
NM_001429.4(EP300):c.*922_*942delinsC rs1555912616
NM_001429.4(EP300):c.*922_*942delinsCC rs1555912616
NM_001429.4(EP300):c.*926AC[18] rs59721178
NM_001429.4(EP300):c.*926AC[20] rs59721178
NM_001429.4(EP300):c.*926AC[22] rs59721178
NM_001429.4(EP300):c.*926AC[23] rs59721178
NM_001429.4(EP300):c.104C>G (p.Ser35Cys) rs2145696235
NM_001429.4(EP300):c.1143C>G (p.His381Gln) rs2145710465
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
NM_001429.4(EP300):c.1282C>T (p.Pro428Ser)
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
NM_001429.4(EP300):c.1357C>G (p.Leu453Val)
NM_001429.4(EP300):c.1372C>G (p.Gln458Glu)
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1420C>T (p.Pro474Ser)
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
NM_001429.4(EP300):c.1448A>T (p.Gln483Leu) rs2058919614
NM_001429.4(EP300):c.1456G>C (p.Val486Leu)
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
NM_001429.4(EP300):c.1528+3_1528+10del
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu)
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala)
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.1663C>T (p.Pro555Ser)
NM_001429.4(EP300):c.1672A>T (p.Thr558Ser) rs1057519397
NM_001429.4(EP300):c.1673C>G (p.Thr558Arg)
NM_001429.4(EP300):c.1681C>G (p.Gln561Glu)
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
NM_001429.4(EP300):c.1760+6_1760+9del rs2145722830
NM_001429.4(EP300):c.1761C>T (p.Leu587=)
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp)
NM_001429.4(EP300):c.1861G>A (p.Glu621Lys) rs778829658
NM_001429.4(EP300):c.189G>C (p.Gln63His)
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1996C>T (p.Pro666Ser)
NM_001429.4(EP300):c.2023A>G (p.Met675Val)
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg)
NM_001429.4(EP300):c.2052T>G (p.Ser684=)
NM_001429.4(EP300):c.2053+5G>C
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr)
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr)
NM_001429.4(EP300):c.2188A>G (p.Thr730Ala)
NM_001429.4(EP300):c.2191C>T (p.Pro731Ser)
NM_001429.4(EP300):c.2203C>T (p.His735Tyr)
NM_001429.4(EP300):c.2242-6_2242-4del rs747710183
NM_001429.4(EP300):c.2261G>A (p.Arg754His) rs544338126
NM_001429.4(EP300):c.2261G>C (p.Arg754Pro)
NM_001429.4(EP300):c.2261G>T (p.Arg754Leu)
NM_001429.4(EP300):c.2279A>T (p.Asn760Ile)
NM_001429.4(EP300):c.2302A>G (p.Thr768Ala)
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu)
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala)
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp)
NM_001429.4(EP300):c.2567CAA[2] (p.Thr858del)
NM_001429.4(EP300):c.2567CAA[4] (p.Thr858_Ile859insThr)
NM_001429.4(EP300):c.2591C>T (p.Pro864Leu)
NM_001429.4(EP300):c.2641C>T (p.Pro881Ser)
NM_001429.4(EP300):c.2647A>G (p.Arg883Gly) rs2059034589
NM_001429.4(EP300):c.2657C>G (p.Pro886Arg)
NM_001429.4(EP300):c.2720C>T (p.Ala907Val)
NM_001429.4(EP300):c.2838C>G (p.Ser946Arg) rs2059047440
NM_001429.4(EP300):c.2864C>A (p.Pro955Gln)
NM_001429.4(EP300):c.2870C>G (p.Thr957Ser)
NM_001429.4(EP300):c.2872A>G (p.Ser958Gly)
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile) rs1308182502
NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)
NM_001429.4(EP300):c.2894A>T (p.Gln965Leu)
NM_001429.4(EP300):c.28C>T (p.Pro10Ser) rs2145665490
NM_001429.4(EP300):c.2913G>C (p.Gln971His)
NM_001429.4(EP300):c.2946G>A (p.Met982Ile)
NM_001429.4(EP300):c.2955T>A (p.Asp985Glu)
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu) rs2145740050
NM_001429.4(EP300):c.2965C>A (p.Pro989Thr)
NM_001429.4(EP300):c.2975C>G (p.Thr992Ser)
NM_001429.4(EP300):c.2998-13del
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) rs775368605
NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
NM_001429.4(EP300):c.3118G>A (p.Ala1040Thr) rs2145741097
NM_001429.4(EP300):c.3143-3A>T rs749597275
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser) rs2059069019
NM_001429.4(EP300):c.320A>G (p.Gln107Arg)
NM_001429.4(EP300):c.3261+3A>G
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
NM_001429.4(EP300):c.332G>A (p.Ser111Asn) rs2145696782
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
NM_001429.4(EP300):c.3458T>A (p.Ile1153Asn)
NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu)
NM_001429.4(EP300):c.3553A>G (p.Ile1185Val)
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala)
NM_001429.4(EP300):c.3590+4A>T
NM_001429.4(EP300):c.3592T>C (p.Tyr1198His) rs1305375514
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3686A>G (p.Glu1229Gly)
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
NM_001429.4(EP300):c.3746A>G (p.Glu1249Gly)
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp) rs747187417
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
NM_001429.4(EP300):c.3800CTG[1] (p.Ala1268del)
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
NM_001429.4(EP300):c.3838G>T (p.Ala1280Ser) rs2059136013
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.4009C>T (p.Pro1337Ser) rs2145762914
NM_001429.4(EP300):c.4019A>G (p.Lys1340Arg)
NM_001429.4(EP300):c.4020A>T (p.Lys1340Asn)
NM_001429.4(EP300):c.4044G>T (p.Glu1348Asp)
NM_001429.4(EP300):c.4067G>C (p.Arg1356Pro)
NM_001429.4(EP300):c.4070C>A (p.Thr1357Asn)
NM_001429.4(EP300):c.4172+5del
NM_001429.4(EP300):c.4186T>C (p.Ser1396Pro)
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4340T>G (p.Ile1447Ser) rs2145766562
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr)
NM_001429.4(EP300):c.4360G>C (p.Asp1454His)
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
NM_001429.4(EP300):c.4438G>A (p.Val1480Ile)
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
NM_001429.4(EP300):c.4453G>T (p.Asp1485Tyr) rs2145769934
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4532A>T (p.Asn1511Ile)
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del)
NM_001429.4(EP300):c.4618-18_4618-17delinsTC
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn)
NM_001429.4(EP300):c.4723A>G (p.Asn1575Asp)
NM_001429.4(EP300):c.4735G>T (p.Asp1579Tyr)
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser) rs1480723806
NM_001429.4(EP300):c.47C>G (p.Pro16Arg)
NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu)
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
NM_001429.4(EP300):c.4923C>G (p.Phe1641Leu)
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
NM_001429.4(EP300):c.494T>C (p.Met165Thr)
NM_001429.4(EP300):c.4960A>C (p.Met1654Leu)
NM_001429.4(EP300):c.4960A>G (p.Met1654Val)
NM_001429.4(EP300):c.4994G>A (p.Arg1665His) rs1601639332
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
NM_001429.4(EP300):c.5062-3T>C
NM_001429.4(EP300):c.5092A>T (p.Thr1698Ser) rs549834848
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile)
NM_001429.4(EP300):c.5210G>A (p.Arg1737His)
NM_001429.4(EP300):c.521A>G (p.Asn174Ser)
NM_001429.4(EP300):c.5231A>G (p.His1744Arg)
NM_001429.4(EP300):c.5249A>G (p.Asn1750Ser) rs2145515265
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)
NM_001429.4(EP300):c.529A>G (p.Met177Val)
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg)
NM_001429.4(EP300):c.5411C>T (p.Pro1804Leu)
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5441G>T (p.Arg1814Leu)
NM_001429.4(EP300):c.5472G>C (p.Gln1824His)
NM_001429.4(EP300):c.5519T>G (p.Val1840Gly)
NM_001429.4(EP300):c.5532A>C (p.Gln1844His)
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe)
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del) rs1555912151
NM_001429.4(EP300):c.5558C>G (p.Ala1853Gly)
NM_001429.4(EP300):c.5560A>C (p.Thr1854Pro)
NM_001429.4(EP300):c.5587C>G (p.Pro1863Ala)
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser)
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1])
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly)
NM_001429.4(EP300):c.5678C>T (p.Ala1893Val)
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val) rs1301825643
NM_001429.4(EP300):c.5839A>G (p.Ile1947Val) rs977251718
NM_001429.4(EP300):c.5840_5848del (p.Ile1947_Gln1949del) rs1171171784
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg)
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp)
NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del)
NM_001429.4(EP300):c.6148G>C (p.Ala2050Pro)
NM_001429.4(EP300):c.6204A>C (p.Gln2068His)
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly)
NM_001429.4(EP300):c.6287A>G (p.Asn2096Ser) rs1762014323
NM_001429.4(EP300):c.6303_6323del (p.Met2106_Gly2112del)
NM_001429.4(EP300):c.6312_6332del (p.Met2106_Gly2112del) rs755425119
NM_001429.4(EP300):c.6323A>C (p.Gln2108Pro)
NM_001429.4(EP300):c.6350C>T (p.Thr2117Ile) rs2059213237
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp)
NM_001429.4(EP300):c.6402T>G (p.Asn2134Lys)
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
NM_001429.4(EP300):c.6448C>A (p.Pro2150Thr)
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1]) rs758586599
NM_001429.4(EP300):c.6467C>T (p.Pro2156Leu)
NM_001429.4(EP300):c.6472A>G (p.Met2158Val)
NM_001429.4(EP300):c.6509T>C (p.Met2170Thr)
NM_001429.4(EP300):c.6520A>G (p.Thr2174Ala) rs5758252
NM_001429.4(EP300):c.6523A>G (p.Met2175Val)
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg)
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala) rs1358846937
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr)
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg)
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe)
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val)
NM_001429.4(EP300):c.6782A>G (p.Gln2261Arg)
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu)
NM_001429.4(EP300):c.6815C>T (p.Pro2272Leu) rs1386526100
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn)
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer)
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del) rs1601642386
NM_001429.4(EP300):c.7054G>A (p.Val2352Ile)
NM_001429.4(EP300):c.7064A>G (p.Gln2355Arg)
NM_001429.4(EP300):c.706T>A (p.Leu236Met)
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup) rs2059220245
NM_001429.4(EP300):c.7109A>G (p.Asn2370Ser)
NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe)
NM_001429.4(EP300):c.7131dup (p.Ser2378Ter)
NM_001429.4(EP300):c.7135A>G (p.Asn2379Asp)
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser)
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.7183C>G (p.Leu2395Val)
NM_001429.4(EP300):c.7186A>C (p.Ser2396Arg)
NM_001429.4(EP300):c.7189A>C (p.Thr2397Pro)
NM_001429.4(EP300):c.721C>T (p.Pro241Ser)
NM_001429.4(EP300):c.7220C>T (p.Ser2407Leu) rs1424813619
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077
NM_001429.4(EP300):c.7241_7242dup (p.Ter2415ThrextTer?) rs1329239009
NM_001429.4(EP300):c.734G>A (p.Gly245Glu)
NM_001429.4(EP300):c.742A>C (p.Asn248His)
NM_001429.4(EP300):c.746A>T (p.Asn249Ile) rs200732771
NM_001429.4(EP300):c.749C>G (p.Pro250Arg) rs2058879222
NM_001429.4(EP300):c.887G>T (p.Gly296Val)
NM_001429.4(EP300):c.88G>A (p.Gly30Ser)
NM_001429.4(EP300):c.898C>T (p.Pro300Ser)
NM_001429.4(EP300):c.901A>G (p.Asn301Asp)
NM_001429.4(EP300):c.941G>A (p.Gly314Asp)
NM_001429.4(EP300):c.95-3T>C
NM_001429.4(EP300):c.952C>T (p.Pro318Ser)
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)
NM_001457.4(FLNB):c.199C>T (p.His67Tyr) rs751371914
NM_001457.4(FLNB):c.2417C>A (p.Thr806Lys) rs940585956
NM_001457.4(FLNB):c.2471T>C (p.Leu824Pro) rs2107121791
NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln) rs755928543
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) rs886044175
NM_001457.4(FLNB):c.4585T>C (p.Ser1529Pro) rs770433500
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) rs776043627
NM_001457.4(FLNB):c.4805C>A (p.Ser1602Tyr) rs2107224888
NM_001457.4(FLNB):c.5524T>C (p.Phe1842Leu) rs1178860596
NM_001457.4(FLNB):c.5696T>A (p.Ile1899Asn)
NM_001457.4(FLNB):c.6643A>G (p.Ser2215Gly) rs2097350829
NM_001457.4(FLNB):c.6866G>A (p.Arg2289His) rs1033252725
NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val) rs2107340030
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu) rs144321868
NM_001711.6(BGN):c.645C>G (p.Ile215Met) rs2089802360
NM_001711.6(BGN):c.682C>T (p.Pro228Ser) rs2089804261
NM_001753.5(CAV1):c.284C>T (p.Thr95Met)
NM_001793.4(CDH3):c.-628G>A rs796187375
NM_001793.4(CDH3):c.-633_-627AAAAAGA[1] rs886052223
NM_001793.5(CDH3):c.-140G>T rs886052227
NM_001793.6(CDH3):c.*149G>T rs549357874
NM_001793.6(CDH3):c.*180G>C rs1961820138
NM_001793.6(CDH3):c.*523G>A rs1961830575
NM_001793.6(CDH3):c.*595G>A rs111487714
NM_001793.6(CDH3):c.*87G>T rs555473968
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr) rs749754991
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys) rs886052231
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys) rs766325919
NM_001793.6(CDH3):c.1183-12C>T rs886052232
NM_001793.6(CDH3):c.1740G>C (p.Gln580His) rs886052233
NM_001793.6(CDH3):c.1796-11G>T rs752252704
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr) rs372221192
NM_001793.6(CDH3):c.2070A>G (p.Pro690=) rs886052234
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr) rs1961708493
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr) rs775268226
NM_001793.6(CDH3):c.45+6C>T rs562645181
NM_001793.6(CDH3):c.651G>C (p.Gln217His) rs1961118084
NM_001793.6(CDH3):c.958G>A (p.Asp320Asn)
NM_001844.5(COL2A1):c.*120C>G rs886049443
NM_001844.5(COL2A1):c.*131C>T rs886049442
NM_001844.5(COL2A1):c.*406A>G rs886049441
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu) rs886049448
NM_001844.5(COL2A1):c.1068+4del rs2136590056
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.12C>T (p.Leu4=) rs886049449
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) rs865903887
NM_001844.5(COL2A1):c.1581+4_1581+7del rs1565682292
NM_001844.5(COL2A1):c.1734+4del rs2136566434
NM_001844.5(COL2A1):c.1995+5G>A rs1449516565
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) rs1231988113
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs) rs1939177362
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.2410-13T>G rs574507277
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile) rs1938961773
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln) rs2136534972
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser) rs1398589070
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) rs777615798
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) rs886049445
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp) rs1347381176
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) rs886049444
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg) rs1555164561
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4317+9G>C rs1938570357
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) rs1565664375
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg) rs958614345
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser) rs2136616123
NM_001844.5(COL2A1):c.924+14A>C rs1475810942
NM_001844.5(COL2A1):c.970-6T>C
NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala) rs1428416801
NM_001851.6(COL9A1):c.2260G>C (p.Gly754Arg)
NM_001851.6(COL9A1):c.2284A>G (p.Ile762Val) rs2127559477
NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter) rs147237457
NM_001851.6(COL9A1):c.443G>A (p.Gly148Asp)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu) rs767995228
NM_001852.4(COL9A2):c.*322G>A rs1057515566
NM_001852.4(COL9A2):c.*405G>A rs1643903443
NM_001852.4(COL9A2):c.1009-2A>C rs2124065362
NM_001852.4(COL9A2):c.1054-15A>G rs774104069
NM_001852.4(COL9A2):c.1124G>T (p.Arg375Leu) rs370682522
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1242dup (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1342G>A (p.Gly448Ser) rs2124049861
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.1535G>A (p.Arg512Lys) rs1057515562
NM_001852.4(COL9A2):c.1555G>C (p.Asp519His) rs901123053
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) rs150687987
NM_001852.4(COL9A2):c.300C>T (p.Val100=) rs1644152223
NM_001852.4(COL9A2):c.370C>G (p.Pro124Ala) rs1057515526
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) rs1555824129
NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del) rs1600810127
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu) rs1432126169
NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs) rs1190301717
NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser) rs2063514944
NM_001854.4(COL11A1):c.*1082G>A rs1649568241
NM_001854.4(COL11A1):c.*1227T>A rs538679983
NM_001854.4(COL11A1):c.*1239T>C rs886044969
NM_001854.4(COL11A1):c.*1535A>C rs1649521098
NM_001854.4(COL11A1):c.*40C>A rs766361433
NM_001854.4(COL11A1):c.*901T>C rs1649591440
NM_001854.4(COL11A1):c.*953G>C rs886044970
NM_001854.4(COL11A1):c.-115C>T rs1674875374
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.-248G>A rs1674889828
NM_001854.4(COL11A1):c.-258C>A rs886044984
NM_001854.4(COL11A1):c.-75C>T rs886044980
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=) rs563115409
NM_001854.4(COL11A1):c.1245+6T>A rs2101944852
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) rs760330151
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.1351-3T>A rs1296607621
NM_001854.4(COL11A1):c.1568C>G (p.Ala523Gly) rs776610122
NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)
NM_001854.4(COL11A1):c.174G>A (p.Thr58=) rs530441485
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.1927G>C (p.Gly643Arg)
NM_001854.4(COL11A1):c.1999-10T>C rs1665243141
NM_001854.4(COL11A1):c.2143-15T>C rs886044979
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del) rs2101750401
NM_001854.4(COL11A1):c.2394+8T>C rs1322783114
NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser) rs1663713016
NM_001854.4(COL11A1):c.2590A>C (p.Asn864His) rs1557897680
NM_001854.4(COL11A1):c.2655+3A>G rs886044978
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.2862+3A>G
NM_001854.4(COL11A1):c.3233G>C (p.Gly1078Ala)
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001854.4(COL11A1):c.3343C>T (p.Pro1115Ser) rs1658594891
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3424G>A (p.Asp1142Asn) rs1364963653
NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln) rs1182148061
NM_001854.4(COL11A1):c.3442C>G (p.Pro1148Ala) rs764581778
NM_001854.4(COL11A1):c.3515C>T (p.Pro1172Leu)
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.4(COL11A1):c.3619G>A (p.Gly1207Ser) rs1234981157
NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)
NM_001854.4(COL11A1):c.3816+6T>G rs2101038892
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.385G>A (p.Val129Ile) rs1672174219
NM_001854.4(COL11A1):c.3978+1G>A rs1570712889
NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln) rs528959090
NM_001854.4(COL11A1):c.4140+8A>T
NM_001854.4(COL11A1):c.4230G>A (p.Arg1410=) rs1348561782
NM_001854.4(COL11A1):c.4302+5G>A
NM_001854.4(COL11A1):c.4302G>A (p.Met1434Ile)
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4357-16dup rs748850423
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
NM_001854.4(COL11A1):c.4906A>G (p.Lys1636Glu) rs886044973
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5009G>A (p.Ser1670Asn) rs1313374505
NM_001854.4(COL11A1):c.5041-2A>G
NM_001854.4(COL11A1):c.5169G>A (p.Val1723=) rs1649996140
NM_001854.4(COL11A1):c.5275-15T>C rs748518624
NM_001854.4(COL11A1):c.5275-9A>C rs200949243
NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys) rs1649735346
NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu) rs1247463879
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_001854.4(COL11A1):c.781-17T>G rs1553239331
NM_001854.4(COL11A1):c.828A>G (p.Ala276=) rs764926559
NM_002010.2(FGF9):c.-849G>T rs1871749140
NM_002010.3(FGF9):c.*1030A>G rs1872572012
NM_002010.3(FGF9):c.*1461T>C rs1872579132
NM_002010.3(FGF9):c.*1507A>G rs886050057
NM_002010.3(FGF9):c.*2210del rs577984328
NM_002010.3(FGF9):c.*2256C>T rs1872594410
NM_002010.3(FGF9):c.*2276T>C rs1340564951
NM_002010.3(FGF9):c.*2363A>G rs886050060
NM_002010.3(FGF9):c.*2463dup rs757466207
NM_002010.3(FGF9):c.*2469G>C rs1371588292
NM_002010.3(FGF9):c.*266GT[5] rs761639029
NM_002010.3(FGF9):c.*274_*275del rs886050049
NM_002010.3(FGF9):c.*274_*277del rs201279299
NM_002010.3(FGF9):c.*274_*279del rs886050047
NM_002010.3(FGF9):c.*276GT[14] rs61706549
NM_002010.3(FGF9):c.*276GT[16] rs61706549
NM_002010.3(FGF9):c.*276GT[19] rs61706549
NM_002010.3(FGF9):c.*278G>A rs1872549246
NM_002010.3(FGF9):c.*37A>T rs767958078
NM_002010.3(FGF9):c.*479CTTA[1] rs886050053
NM_002010.3(FGF9):c.*713T>C rs886050054
NM_002010.3(FGF9):c.*737G>T rs886050056
NM_002010.3(FGF9):c.-151G>T rs542009378
NM_002010.3(FGF9):c.-335del rs886050042
NM_002010.3(FGF9):c.-452A>T rs886050041
NM_002010.3(FGF9):c.-585dup rs886050040
NM_002010.3(FGF9):c.-767G>C rs796479555
NM_002010.3(FGF9):c.-796C>T rs549054241
NM_002031.3(FRK):c.484G>A (p.Val162Ile) rs764595423
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) rs2106307025
NM_002181.4(IHH):c.217C>T (p.Arg73Cys) rs2106310521
NM_002181.4(IHH):c.518C>A (p.Ala173Asp)
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) rs1574689480
NM_002181.4(IHH):c.851C>T (p.Thr284Met) rs1257383778
NM_002181.4(IHH):c.88C>A (p.Pro30Thr) rs1574689457
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.4(LRP5):c.1412+11C>T rs202149761
NM_002335.4(LRP5):c.143C>G (p.Ala48Gly) rs2098614549
NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser) rs2098653807
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu) rs1554969579
NM_002335.4(LRP5):c.1675T>C (p.Tyr559His) rs2153162994
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) rs121908665
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del) rs780882911
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn) rs1470530779
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser) rs775353605
NM_002335.4(LRP5):c.2318+3_2318+6del rs1292196959
NM_002335.4(LRP5):c.2359G>A (p.Val787Met) rs778567335
NM_002335.4(LRP5):c.2437T>C (p.Tyr813His) rs936323278
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln) rs559129140
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) rs764138752
NM_002335.4(LRP5):c.3016G>A (p.Asp1006Asn) rs147758521
NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu) rs61889560
NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys) rs753926639
NM_002335.4(LRP5):c.3204G>A (p.Lys1068=) rs2153173106
NM_002335.4(LRP5):c.3237-16C>A rs748779058
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) rs1272835374
NM_002335.4(LRP5):c.3404G>A (p.Arg1135His) rs560826688
NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del) rs72555376
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile) rs148217741
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln) rs1019409513
NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg) rs764259701
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu) rs764259701
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser) rs968164869
NM_002335.4(LRP5):c.4001-15G>A rs2098675288
NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro) rs150088620
NM_002335.4(LRP5):c.4043G>A (p.Cys1348Tyr) rs149275252
NM_002335.4(LRP5):c.4045G>A (p.Val1349Ile) rs2098675334
NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn) rs1008752977
NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr) rs2153181249
NM_002335.4(LRP5):c.4230G>A (p.Val1410=) rs752100031
NM_002335.4(LRP5):c.4236C>T (p.Cys1412=) rs750573655
NM_002335.4(LRP5):c.4252G>A (p.Ala1418Thr) rs2153181307
NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys) rs931583330
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu) rs199871539
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) rs774251511
NM_002335.4(LRP5):c.4667G>A (p.Arg1556His) rs764447598
NM_002335.4(LRP5):c.527T>A (p.Ile176Asn)
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) rs183377804
NM_002335.4(LRP5):c.575C>T (p.Ser192Leu) rs549579496
NM_002335.4(LRP5):c.787T>C (p.Cys263Arg) rs2153139472
NM_002381.5(MATN3):c.*955G>A rs1378496398
NM_002381.5(MATN3):c.1114C>A (p.His372Asn) rs747623605
NM_002381.5(MATN3):c.160C>A (p.Pro54Thr) rs1008273355
NM_002381.5(MATN3):c.197G>C (p.Ser66Thr) rs1673236096
NM_002381.5(MATN3):c.302A>G (p.Lys101Arg)
NM_002381.5(MATN3):c.477C>G (p.Gly159=) rs1673099589
NM_002381.5(MATN3):c.477C>T (p.Gly159=) rs1673099589
NM_002381.5(MATN3):c.526G>T (p.Val176Leu) rs200762092
NM_002381.5(MATN3):c.541C>T (p.Arg181Ter) rs201329777
NM_002381.5(MATN3):c.762T>G (p.Leu254=) rs1673088254
NM_002381.5(MATN3):c.906A>G (p.Lys302=) rs1673021913
NM_002381.5(MATN3):c.90C>T (p.Pro30=) rs996766896
NM_002427.4(MMP13):c.*1007T>C rs886047551
NM_002427.4(MMP13):c.*1052T>C rs1860437707
NM_002427.4(MMP13):c.*1102T>C rs886047550
NM_002427.4(MMP13):c.*374_*376dup rs886047556
NM_002427.4(MMP13):c.*436G>C rs886047555
NM_002427.4(MMP13):c.*54T>C rs1860457399
NM_002427.4(MMP13):c.*723A>T rs1860443091
NM_002427.4(MMP13):c.*756A>G rs886047554
NM_002427.4(MMP13):c.*771T>G rs886047553
NM_002427.4(MMP13):c.*849dup rs886047552
NM_002427.4(MMP13):c.*954G>C rs1860439605
NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe) rs886047557
NM_002427.4(MMP13):c.1316-15T>C rs1860462715
NM_002427.4(MMP13):c.206G>T (p.Arg69Leu) rs558630699
NM_002427.4(MMP13):c.236T>A (p.Val79Glu) rs2134523200
NM_002427.4(MMP13):c.492G>C (p.Met164Ile) rs1860664851
NM_002427.4(MMP13):c.686G>T (p.Gly229Val) rs782723542
NM_002427.4(MMP13):c.706C>T (p.Pro236Ser) rs782443296
NM_002449.5(MSX2):c.*1161C>T rs1760913049
NM_002449.5(MSX2):c.*289A>G rs886060427
NM_002449.5(MSX2):c.*512G>T rs1760894878
NM_002449.5(MSX2):c.*516A>G rs1760894980
NM_002449.5(MSX2):c.*530A>G rs886060429
NM_002449.5(MSX2):c.*601C>G rs886060430
NM_002449.5(MSX2):c.*946T>G rs886060432
NM_002449.5(MSX2):c.-50C>T rs371076863
NM_002449.5(MSX2):c.122A>T (p.Lys41Met) rs1760740243
NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) rs772051040
NM_002449.5(MSX2):c.698dup (p.Ser234fs) rs1760878980
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr) rs1435910539
NM_002449.5(MSX2):c.793C>T (p.His265Tyr) rs1760881974
NM_002470.3(MYH3):c.[721A>G;724_725delTCinsTT]
NM_002472.3(MYH8):c.1640C>T (p.Thr547Met) rs149040691
NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala) rs61730805
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
NM_002601.4(PDE6D):c.266-3C>T rs2106260539
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro) rs2106260506
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) rs2048708941
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys) rs1023549002
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp) rs2106256926
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser) rs1366113264
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
NM_002601.4(PDE6D):c.51A>C (p.Leu17=) rs1328575509
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp) rs570163390
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
NM_002615.7(SERPINF1):c.-37C>A
NM_002615.7(SERPINF1):c.-9+6G>A rs2151202480
NM_002615.7(SERPINF1):c.1057C>A (p.Leu353Met) rs746341445
NM_002615.7(SERPINF1):c.1062T>C (p.Thr354=) rs1270004032
NM_002615.7(SERPINF1):c.1112C>T (p.Thr371Ile) rs201562844
NM_002615.7(SERPINF1):c.1214C>T (p.Ala405Val) rs750443950
NM_002615.7(SERPINF1):c.194T>C (p.Leu65Pro)
NM_002615.7(SERPINF1):c.221C>T (p.Pro74Leu) rs1907621979
NM_002615.7(SERPINF1):c.252T>G (p.Ser84Arg)
NM_002615.7(SERPINF1):c.257C>T (p.Ala86Val) rs886052647
NM_002615.7(SERPINF1):c.277T>C (p.Ser93Pro)
NM_002615.7(SERPINF1):c.345C>T (p.Ser115=) rs886052648
NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp) rs148005190
NM_002615.7(SERPINF1):c.397C>A (p.Gln133Lys) rs138610575
NM_002615.7(SERPINF1):c.397C>T (p.Gln133Ter) rs138610575
NM_002615.7(SERPINF1):c.446G>A (p.Arg149His)
NM_002615.7(SERPINF1):c.517C>T (p.Pro173Ser)
NM_002615.7(SERPINF1):c.620T>G (p.Leu207Arg) rs967535162
NM_002615.7(SERPINF1):c.702_704del (p.Asp234del) rs754286883
NM_002615.7(SERPINF1):c.715G>A (p.Val239Met) rs376520683
NM_002615.7(SERPINF1):c.727ATG[1] (p.Met244del) rs750464528
NM_002615.7(SERPINF1):c.742_747del (p.Lys248_Ala249del) rs1597355459
NM_002615.7(SERPINF1):c.786G>C (p.Lys262Asn)
NM_002615.7(SERPINF1):c.840G>T (p.Leu280=) rs200114659
NM_002615.7(SERPINF1):c.868GAG[1] (p.Glu291del) rs759097183
NM_002615.7(SERPINF1):c.998-7T>A rs886052649
NM_002653.5(PITX1):c.934T>C (p.Tyr312His)
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002734.5(PRKAR1A):c.*1003C>T rs2085973222
NM_002734.5(PRKAR1A):c.*1111C>G rs2085976100
NM_002734.5(PRKAR1A):c.*1118dup rs886053312
NM_002734.5(PRKAR1A):c.*1168A>T rs886053313
NM_002734.5(PRKAR1A):c.*1640C>T rs2085991084
NM_002734.5(PRKAR1A):c.*1838A>T rs2085997664
NM_002734.5(PRKAR1A):c.*1839G>A rs886053316
NM_002734.5(PRKAR1A):c.*1842A>T rs886053317
NM_002734.5(PRKAR1A):c.*1949G>T rs1600501089
NM_002734.5(PRKAR1A):c.*2018C>T rs540185706
NM_002734.5(PRKAR1A):c.*2067T>C rs886053318
NM_002734.5(PRKAR1A):c.*2072G>A rs886053319
NM_002734.5(PRKAR1A):c.*2089A>G rs577964161
NM_002734.5(PRKAR1A):c.*2114G>A rs573817614
NM_002734.5(PRKAR1A):c.*2152T>C rs2086006345
NM_002734.5(PRKAR1A):c.*389T>G rs886053307
NM_002734.5(PRKAR1A):c.*560G>A rs1029548849
NM_002734.5(PRKAR1A):c.*587del rs398041821
NM_002734.5(PRKAR1A):c.*609C>G rs1307801222
NM_002734.5(PRKAR1A):c.*704T>G rs886053310
NM_002734.5(PRKAR1A):c.*812A>G rs116996069
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln) rs746486900
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr) rs1253034687
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) rs1308936763
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) rs773162575
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp) rs2085773408
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) rs2143324114
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe) rs557788926
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr) rs755862763
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln) rs1640467596
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile) rs763338270
NM_003036.4(SKI):c.1095+5T>C rs2100916508
NM_003036.4(SKI):c.1095+6G>A
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
NM_003036.4(SKI):c.1096-15A>G
NM_003036.4(SKI):c.1096-6C>G
NM_003036.4(SKI):c.1096-8C>G
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg) rs1269741981
NM_003036.4(SKI):c.10G>C (p.Ala4Pro) rs1638560343
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly) rs749507746
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys) rs1038237858
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser) rs1242691039
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe) rs371268096
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser) rs1640476669
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
NM_003036.4(SKI):c.1211+2T>G
NM_003036.4(SKI):c.1212-3C>T
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu) rs2100918174
NM_003036.4(SKI):c.123C>G (p.Arg41=) rs1233566903
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu) rs748787050
NM_003036.4(SKI):c.1298del (p.Pro433fs)
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr) rs1247637685
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
NM_003036.4(SKI):c.1315G>T (p.Val439Phe) rs575093513
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala) rs1569860183
NM_003036.4(SKI):c.1328C>T (p.Pro443Leu) rs1640493986
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser) rs2100918643
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr) rs1417738788
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp) rs1640495570
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu) rs1640496768
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
NM_003036.4(SKI):c.1411G>A (p.Val471Met) rs745717087
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
NM_003036.4(SKI):c.1418C>T (p.Ala473Val) rs1198385228
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
NM_003036.4(SKI):c.1474+8_1474+9del
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
NM_003036.4(SKI):c.1485_1487del (p.Leu496del) rs1640510054
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu) rs376322470
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser) rs774937962
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del) rs863223725
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
NM_003036.4(SKI):c.163G>A (p.Ala55Thr) rs769506718
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser) rs1434790266
NM_003036.4(SKI):c.164C>T (p.Ala55Val)
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys) rs1225179301
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
NM_003036.4(SKI):c.1690C>G (p.His564Asp) rs1640518223
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr) rs1640519904
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg) rs1569862379
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898
NM_003036.4(SKI):c.1767+1G>C
NM_003036.4(SKI):c.1768-3C>T
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln) rs1569865485
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del) rs1640564388
NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp) rs1640565489
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys) rs863223727
NM_003036.4(SKI):c.182C>T (p.Pro61Leu) rs1557806444
NM_003036.4(SKI):c.1848C>G (p.Ile616Met) rs1044806468
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1879A>G (p.Met627Val) rs2100924200
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys) rs1640570925
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup) rs1553189874
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
NM_003036.4(SKI):c.196G>C (p.Ala66Pro) rs1212316098
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr) rs1569866460
NM_003036.4(SKI):c.1998+1G>T
NM_003036.4(SKI):c.1998+6C>T rs1265118842
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg) rs1060502673
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
NM_003036.4(SKI):c.2028C>G (p.His676Gln) rs1203179478
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg) rs2100925789
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu) rs1021794039
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp) rs1347331671
NM_003036.4(SKI):c.2092C>G (p.Leu698Val) rs766929334
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly) rs1553201549
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly) rs2100926034
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu) rs1640595714
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys) rs1640595885
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=) rs1557854927
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly) rs863223721
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=) rs1308786369
NM_003036.4(SKI):c.2165G>T (p.Gly722Val) rs1488554459
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln) rs1640597058
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
NM_003036.4(SKI):c.217G>A (p.Val73Met)
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=) rs1640597997
NM_003036.4(SKI):c.219G>A (p.Val73=) rs1638568131
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
NM_003036.4(SKI):c.229C>T (p.Pro77Ser) rs1370601989
NM_003036.4(SKI):c.22C>G (p.Arg8Gly) rs1254990952
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.241C>G (p.Pro81Ala) rs778291636
NM_003036.4(SKI):c.248C>T (p.Pro83Leu) rs1060502672
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
NM_003036.4(SKI):c.271T>G (p.Phe91Val) rs1638570021
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
NM_003036.4(SKI):c.278C>T (p.Pro93Leu) rs749071609
NM_003036.4(SKI):c.304G>A (p.Glu102Lys) rs1638570854
NM_003036.4(SKI):c.311T>C (p.Val104Ala) rs886039149
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.358C>T (p.Arg120Cys) rs1569658411
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
NM_003036.4(SKI):c.36G>C (p.Gln12His)
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
NM_003036.4(SKI):c.414G>T (p.Gln138His)
NM_003036.4(SKI):c.419A>C (p.Asn140Thr) rs2100790187
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
NM_003036.4(SKI):c.459C>T (p.Cys153=) rs1638575263
NM_003036.4(SKI):c.463G>T (p.Ala155Ser) rs867726673
NM_003036.4(SKI):c.471G>C (p.Gln157His)
NM_003036.4(SKI):c.487G>A (p.Val163Ile) rs878854599
NM_003036.4(SKI):c.493G>A (p.Gly165Ser) rs1569658999
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys) rs758199656
NM_003036.4(SKI):c.574G>A (p.Gly192Ser) rs1638578159
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys) rs1474048036
NM_003036.4(SKI):c.587C>T (p.Pro196Leu) rs1638578545
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
NM_003036.4(SKI):c.602A>G (p.Lys201Arg) rs2100790534
NM_003036.4(SKI):c.613G>A (p.Ala205Thr) rs2100790567
NM_003036.4(SKI):c.622G>C (p.Ala208Pro) rs761138564
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
NM_003036.4(SKI):c.655C>T (p.Arg219Cys) rs1226163559
NM_003036.4(SKI):c.687G>C (p.Lys229Asn) rs750391739
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup) rs1638560188
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
NM_003036.4(SKI):c.723C>G (p.Ser241Arg) rs2100790799
NM_003036.4(SKI):c.757A>T (p.Met253Leu) rs767352419
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
NM_003036.4(SKI):c.767C>T (p.Pro256Leu) rs2100790888
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr) rs1557807366
NM_003036.4(SKI):c.83C>T (p.Ser28Phe) rs1569656949
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
NM_003036.4(SKI):c.853A>T (p.Ile285Phe) rs2100791027
NM_003036.4(SKI):c.863G>T (p.Ser288Ile) rs2100791046
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys) rs1638585706
NM_003036.4(SKI):c.879C>T (p.Gly293=) rs543890429
NM_003036.4(SKI):c.896G>C (p.Arg299Pro) rs1482824984
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
NM_003036.4(SKI):c.8C>A (p.Ala3Glu)
NM_003036.4(SKI):c.8C>G (p.Ala3Gly) rs1553189801
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
NM_003036.4(SKI):c.968G>T (p.Arg323Leu) rs1638589251
NM_003036.4(SKI):c.969G>C (p.Arg323=) rs747642639
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
NM_003052.5(SLC34A1):c.*196C>T rs1182223345
NM_003052.5(SLC34A1):c.*406C>T rs1763052743
NM_003052.5(SLC34A1):c.*52C>T rs1763040748
NM_003052.5(SLC34A1):c.*79G>C rs886060468
NM_003052.5(SLC34A1):c.-48G>C rs886060466
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003118.4(SPARC):c.*55C>G rs1224378018
NM_003394.4(WNT10B):c.290T>C (p.Leu97Pro) rs1458667581
NM_003394.4(WNT10B):c.337G>C (p.Gly113Arg)
NM_003412.4(ZIC1):c.1097T>A (p.Met366Lys) rs1189648689
NM_003458.4(BSN):c.7374GCAGCAGCAGCT[1] (p.2459QQQL[1]) rs759806020
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.882T>A (p.Asp294Glu)
NM_003722.5(TP63):c.*1130_*1133del rs886058229
NM_003722.5(TP63):c.*1164A>G rs886058230
NM_003722.5(TP63):c.*1169T>C rs775038180
NM_003722.5(TP63):c.*1217T>C rs886058231
NM_003722.5(TP63):c.*1248C>T rs1721420029
NM_003722.5(TP63):c.*1437C>G rs370056499
NM_003722.5(TP63):c.*1846C>T rs886058234
NM_003722.5(TP63):c.*1947dup rs140654135
NM_003722.5(TP63):c.*2155G>A rs573673077
NM_003722.5(TP63):c.*2162C>A rs1407968564
NM_003722.5(TP63):c.*2205A>G rs886058238
NM_003722.5(TP63):c.*2273A>G rs886058239
NM_003722.5(TP63):c.*2357C>A rs1219703516
NM_003722.5(TP63):c.*235_*238del rs886058225
NM_003722.5(TP63):c.*2555dup rs772929136
NM_003722.5(TP63):c.*280G>A rs1365557719
NM_003722.5(TP63):c.*295T>A rs886058226
NM_003722.5(TP63):c.*519C>T rs886058228
NM_003722.5(TP63):c.*736T>G rs1055700666
NM_003722.5(TP63):c.*759G>A rs1395004909
NM_003722.5(TP63):c.-38T>C rs1729451583
NM_003722.5(TP63):c.-3G>C rs770510830
NM_003722.5(TP63):c.-87C>T rs747090025
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) rs121908847
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) rs1403304957
NM_003722.5(TP63):c.1724A>G (p.Gln575Arg)
NM_003722.5(TP63):c.1802T>C (p.Ile601Thr)
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) rs1294809942
NM_003722.5(TP63):c.1834T>G (p.Ser612Ala) rs1721303299
NM_003722.5(TP63):c.1880G>A (p.Ser627Asn) rs1293584292
NM_003722.5(TP63):c.1994T>G (p.Met665Arg) rs886058223
NM_003722.5(TP63):c.2017C>T (p.Gln673Ter)
NM_003722.5(TP63):c.766+3A>G rs886058221
NM_003722.5(TP63):c.799G>A (p.Val267Ile) rs768752805
NM_003722.5(TP63):c.802G>A (p.Glu268Lys) rs2108801803
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) rs886058222
NM_003791.4(MBTPS1):c.2831+5G>T
NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys) rs1828087195
NM_003995.4(NPR2):c.1055T>C (p.Ile352Thr)
NM_003995.4(NPR2):c.1076A>C (p.Glu359Ala)
NM_003995.4(NPR2):c.1093G>C (p.Val365Leu)
NM_003995.4(NPR2):c.1103T>C (p.Met368Thr)
NM_003995.4(NPR2):c.1112G>A (p.Arg371Gln)
NM_003995.4(NPR2):c.1117T>C (p.Tyr373His)
NM_003995.4(NPR2):c.1122C>T (p.His374=)
NM_003995.4(NPR2):c.1123G>A (p.Gly375Ser) rs1828095529
NM_003995.4(NPR2):c.1123G>C (p.Gly375Arg) rs1828095529
NM_003995.4(NPR2):c.1157A>G (p.Asn386Ser)
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) rs1828106198
NM_003995.4(NPR2):c.1168A>C (p.Thr390Pro)
NM_003995.4(NPR2):c.1190T>C (p.Met397Thr)
NM_003995.4(NPR2):c.1191G>A (p.Met397Ile)
NM_003995.4(NPR2):c.11C>T (p.Pro4Leu)
NM_003995.4(NPR2):c.1219-3C>T
NM_003995.4(NPR2):c.1223C>A (p.Ala408Glu)
NM_003995.4(NPR2):c.1223C>T (p.Ala408Val) rs2132079334
NM_003995.4(NPR2):c.1225G>A (p.Ala409Thr) rs1828117923
NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu) rs796065356
NM_003995.4(NPR2):c.1267C>T (p.Arg423Trp)
NM_003995.4(NPR2):c.127C>G (p.Pro43Ala) rs1258275667
NM_003995.4(NPR2):c.1289G>A (p.Gly430Glu)
NM_003995.4(NPR2):c.1294C>T (p.Pro432Ser)
NM_003995.4(NPR2):c.1301C>T (p.Ser434Leu)
NM_003995.4(NPR2):c.130C>T (p.Arg44Trp)
NM_003995.4(NPR2):c.1313C>A (p.Pro438His) rs778410447
NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu) rs778410447
NM_003995.4(NPR2):c.1324G>A (p.Asp442Asn) rs1331619875
NM_003995.4(NPR2):c.1352-12T>A
NM_003995.4(NPR2):c.1367T>C (p.Leu456Pro)
NM_003995.4(NPR2):c.1388C>T (p.Thr463Ile) rs2132080251
NM_003995.4(NPR2):c.1403T>G (p.Ile468Ser) rs886063912
NM_003995.4(NPR2):c.1406T>C (p.Met469Thr)
NM_003995.4(NPR2):c.1462G>A (p.Ala488Thr)
NM_003995.4(NPR2):c.1469T>C (p.Met490Thr)
NM_003995.4(NPR2):c.1533A>G (p.Ala511=)
NM_003995.4(NPR2):c.1540C>T (p.Arg514Cys)
NM_003995.4(NPR2):c.1547C>T (p.Thr516Ile) rs1828173261
NM_003995.4(NPR2):c.155C>A (p.Ala52Asp) rs1827817304
NM_003995.4(NPR2):c.1573G>A (p.Gly525Ser)
NM_003995.4(NPR2):c.1577C>T (p.Ser526Leu)
NM_003995.4(NPR2):c.1585A>G (p.Thr529Ala)
NM_003995.4(NPR2):c.1589C>A (p.Ala530Asp) rs1828184008
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) rs751324720
NM_003995.4(NPR2):c.170G>C (p.Gly57Ala)
NM_003995.4(NPR2):c.1741C>T (p.Arg581Cys)
NM_003995.4(NPR2):c.1753G>A (p.Ala585Thr)
NM_003995.4(NPR2):c.1775T>C (p.Ile592Thr)
NM_003995.4(NPR2):c.1780A>G (p.Ile594Val) rs2132083748
NM_003995.4(NPR2):c.1801C>T (p.Arg601Cys) rs1563988849
NM_003995.4(NPR2):c.1802G>A (p.Arg601His) rs180950551
NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu) rs180950551
NM_003995.4(NPR2):c.1815+2T>C rs1563988864
NM_003995.4(NPR2):c.1825G>A (p.Glu609Lys)
NM_003995.4(NPR2):c.1844T>G (p.Leu615Trp) rs1828223846
NM_003995.4(NPR2):c.1849T>C (p.Trp617Arg)
NM_003995.4(NPR2):c.1888-3C>A
NM_003995.4(NPR2):c.190C>T (p.Leu64=) rs1588050194
NM_003995.4(NPR2):c.1924C>T (p.His642Tyr) rs2132089495
NM_003995.4(NPR2):c.1946A>T (p.Asn649Ile) rs761833821
NM_003995.4(NPR2):c.1948T>G (p.Cys650Gly) rs2132089545
NM_003995.4(NPR2):c.194G>A (p.Arg65Gln) rs1161458774
NM_003995.4(NPR2):c.1951G>A (p.Val651Met)
NM_003995.4(NPR2):c.1954G>A (p.Val652Met)
NM_003995.4(NPR2):c.1956G>A (p.Val652=)
NM_003995.4(NPR2):c.2028C>A (p.Asp676Glu)
NM_003995.4(NPR2):c.2036C>T (p.Ala679Val)
NM_003995.4(NPR2):c.2049G>T (p.Lys683Asn)
NM_003995.4(NPR2):c.2155C>G (p.Leu719Val)
NM_003995.4(NPR2):c.2159G>A (p.Arg720His)
NM_003995.4(NPR2):c.2163T>A (p.Ser721Arg)
NM_003995.4(NPR2):c.2226T>A (p.Asn742Lys)
NM_003995.4(NPR2):c.2234G>A (p.Arg745Gln)
NM_003995.4(NPR2):c.2260C>T (p.Arg754Trp) rs371968545
NM_003995.4(NPR2):c.2279A>G (p.Glu760Gly) rs539647497
NM_003995.4(NPR2):c.2293A>G (p.Met765Val) rs1828369816
NM_003995.4(NPR2):c.2300G>A (p.Arg767Gln)
NM_003995.4(NPR2):c.2341C>A (p.Gln781Lys)
NM_003995.4(NPR2):c.2344A>G (p.Ile782Val)
NM_003995.4(NPR2):c.2360G>A (p.Arg787Gln) rs370822948
NM_003995.4(NPR2):c.2376G>A (p.Glu792=)
NM_003995.4(NPR2):c.2377G>A (p.Gly793Ser)
NM_003995.4(NPR2):c.2390T>C (p.Ile797Thr)
NM_003995.4(NPR2):c.2411G>A (p.Arg804His) rs2132092435
NM_003995.4(NPR2):c.2414T>A (p.Met805Lys)
NM_003995.4(NPR2):c.2463G>A (p.Gln821=) rs1828391242
NM_003995.4(NPR2):c.2483G>A (p.Arg828His)
NM_003995.4(NPR2):c.2520-3T>C
NM_003995.4(NPR2):c.2523A>G (p.Ser841=) rs758756963
NM_003995.4(NPR2):c.2530G>A (p.Glu844Lys)
NM_003995.4(NPR2):c.2543G>A (p.Arg848Gln)
NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser) rs1245545691
NM_003995.4(NPR2):c.2572G>A (p.Asp858Asn) rs1477979334
NM_003995.4(NPR2):c.2629A>G (p.Ser877Gly) rs1012739989
NM_003995.4(NPR2):c.263A>C (p.Lys88Thr) rs1349881219
NM_003995.4(NPR2):c.2648T>G (p.Val883Gly) rs2132095372
NM_003995.4(NPR2):c.264G>T (p.Lys88Asn) rs2132066445
NM_003995.4(NPR2):c.2681A>C (p.Asp894Ala) rs2132095429
NM_003995.4(NPR2):c.2713G>T (p.Val905Leu) rs1357724443
NM_003995.4(NPR2):c.2731G>A (p.Ala911Thr)
NM_003995.4(NPR2):c.2732C>A (p.Ala911Asp)
NM_003995.4(NPR2):c.2738T>C (p.Met913Thr) rs2132100450
NM_003995.4(NPR2):c.2739G>A (p.Met913Ile) rs2132100462
NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)
NM_003995.4(NPR2):c.2773C>T (p.Arg925Cys)
NM_003995.4(NPR2):c.2777A>G (p.His926Arg) rs1470757644
NM_003995.4(NPR2):c.2807C>T (p.Ala936Val) rs2132100815
NM_003995.4(NPR2):c.2839C>T (p.Arg947Cys)
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) rs145008570
NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)
NM_003995.4(NPR2):c.2885C>G (p.Thr962Ser) rs201806512
NM_003995.4(NPR2):c.2888-18A>G
NM_003995.4(NPR2):c.2897G>C (p.Cys966Ser)
NM_003995.4(NPR2):c.2912G>T (p.Gly971Val)
NM_003995.4(NPR2):c.2923C>A (p.Pro975Thr) rs2132101777
NM_003995.4(NPR2):c.295C>T (p.Pro99Ser)
NM_003995.4(NPR2):c.2985A>C (p.Gln995His)
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly) rs1828609114
NM_003995.4(NPR2):c.305T>C (p.Val102Ala)
NM_003995.4(NPR2):c.3086G>T (p.Gly1029Val)
NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys) rs1828636535
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del) rs1828637001
NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)
NM_003995.4(NPR2):c.328C>T (p.Arg110Cys) rs758478717
NM_003995.4(NPR2):c.329G>A (p.Arg110His) rs1827825533
NM_003995.4(NPR2):c.331T>G (p.Phe111Val)
NM_003995.4(NPR2):c.361A>C (p.Thr121Pro)
NM_003995.4(NPR2):c.385T>G (p.Phe129Val)
NM_003995.4(NPR2):c.388T>G (p.Ser130Ala)
NM_003995.4(NPR2):c.390G>A (p.Ser130=) rs2132066726
NM_003995.4(NPR2):c.407A>T (p.Tyr136Phe)
NM_003995.4(NPR2):c.422G>A (p.Arg141His) rs1827828857
NM_003995.4(NPR2):c.477C>G (p.His159Gln)
NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)
NM_003995.4(NPR2):c.491C>G (p.Ala164Gly)
NM_003995.4(NPR2):c.493C>T (p.Arg165Cys)
NM_003995.4(NPR2):c.542A>G (p.Tyr181Cys)
NM_003995.4(NPR2):c.607T>C (p.Tyr203His)
NM_003995.4(NPR2):c.653G>A (p.Arg218Gln) rs1285934866
NM_003995.4(NPR2):c.65C>T (p.Ala22Val) rs1827813477
NM_003995.4(NPR2):c.661G>A (p.Gly221Arg) rs1440373349
NM_003995.4(NPR2):c.664C>T (p.Arg222Cys)
NM_003995.4(NPR2):c.668T>G (p.Ile223Ser)
NM_003995.4(NPR2):c.681C>G (p.Cys227Trp) rs780884094
NM_003995.4(NPR2):c.694A>G (p.Met232Val)
NM_003995.4(NPR2):c.740A>G (p.Asn247Ser)
NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys) rs1243598210
NM_003995.4(NPR2):c.753CTT[1] (p.Phe253del) rs767114653
NM_003995.4(NPR2):c.760T>C (p.Tyr254His)
NM_003995.4(NPR2):c.787C>T (p.Arg263Cys)
NM_003995.4(NPR2):c.788G>C (p.Arg263Pro) rs139036657
NM_003995.4(NPR2):c.802C>T (p.Arg268Cys)
NM_003995.4(NPR2):c.803G>A (p.Arg268His)
NM_003995.4(NPR2):c.814C>T (p.Arg272Trp)
NM_003995.4(NPR2):c.826G>A (p.Asp276Asn)
NM_003995.4(NPR2):c.826G>C (p.Asp276His)
NM_003995.4(NPR2):c.832C>T (p.Arg278Cys)
NM_003995.4(NPR2):c.839G>A (p.Arg280Gln)
NM_003995.4(NPR2):c.85G>A (p.Val29Met) rs2132066072
NM_003995.4(NPR2):c.863A>C (p.Glu288Ala) rs765509984
NM_003995.4(NPR2):c.866C>A (p.Ala289Asp) rs915823109
NM_003995.4(NPR2):c.873+3A>G rs1827874317
NM_003995.4(NPR2):c.886A>G (p.Ile296Val)
NM_003995.4(NPR2):c.890C>T (p.Thr297Met)
NM_003995.4(NPR2):c.896G>A (p.Arg299Gln)
NM_003995.4(NPR2):c.949G>T (p.Ala317Ser)
NM_003995.4(NPR2):c.965G>A (p.Gly322Asp)
NM_003995.4(NPR2):c.98A>C (p.Glu33Ala) rs886063909
NM_003995.4(NPR2):c.990G>A (p.Met330Ile)
NM_004208.4(AIFM1):c.1696T>A (p.Phe566Ile)
NM_004208.4(AIFM1):c.649C>G (p.Leu217Val)
NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys) rs2124656997
NM_004239.4(TRIP11):c.*1175C>G rs1439636951
NM_004239.4(TRIP11):c.*1185G>A rs1424828686
NM_004239.4(TRIP11):c.*1194A>G rs886050894
NM_004239.4(TRIP11):c.*1212C>T rs2056361212
NM_004239.4(TRIP11):c.*1294A>G rs143185383
NM_004239.4(TRIP11):c.*1339del rs35251290
NM_004239.4(TRIP11):c.*162G>T rs1318449538
NM_004239.4(TRIP11):c.*273A>C rs978962806
NM_004239.4(TRIP11):c.*362C>G rs886050902
NM_004239.4(TRIP11):c.*383del rs547231708
NM_004239.4(TRIP11):c.*383dup rs547231708
NM_004239.4(TRIP11):c.*409A>G rs886050899
NM_004239.4(TRIP11):c.*491A>C rs886050898
NM_004239.4(TRIP11):c.*628C>T rs886050897
NM_004239.4(TRIP11):c.*891A>G rs886050896
NM_004239.4(TRIP11):c.*904A>G rs886050895
NM_004239.4(TRIP11):c.*9C>G rs373269085
NM_004239.4(TRIP11):c.-272G>C rs886050913
NM_004239.4(TRIP11):c.-335G>A rs886050914
NM_004239.4(TRIP11):c.-337C>T rs886050915
NM_004239.4(TRIP11):c.-98C>T rs2057364879
NM_004239.4(TRIP11):c.1066G>A (p.Glu356Lys) rs2140129618
NM_004239.4(TRIP11):c.1153G>A (p.Glu385Lys) rs2057008669
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.1186+5A>G
NM_004239.4(TRIP11):c.1192G>A (p.Glu398Lys)
NM_004239.4(TRIP11):c.1268G>A (p.Arg423His)
NM_004239.4(TRIP11):c.1295C>T (p.Ser432Leu)
NM_004239.4(TRIP11):c.1409A>G (p.His470Arg) rs769103968
NM_004239.4(TRIP11):c.1457G>C (p.Ser486Thr) rs1472131979
NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val) rs1380783440
NM_004239.4(TRIP11):c.1527+4A>G rs2140121640
NM_004239.4(TRIP11):c.1580G>A (p.Ser527Asn)
NM_004239.4(TRIP11):c.1580G>C (p.Ser527Thr)
NM_004239.4(TRIP11):c.1620A>C (p.Lys540Asn)
NM_004239.4(TRIP11):c.1652T>G (p.Met551Arg)
NM_004239.4(TRIP11):c.1655A>C (p.Asp552Ala)
NM_004239.4(TRIP11):c.1671A>C (p.Leu557Phe)
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) rs749219134
NM_004239.4(TRIP11):c.178A>G (p.Ile60Val)
NM_004239.4(TRIP11):c.1814A>G (p.Glu605Gly)
NM_004239.4(TRIP11):c.1820T>C (p.Leu607Ser) rs927576762
NM_004239.4(TRIP11):c.1828A>C (p.Lys610Gln)
NM_004239.4(TRIP11):c.1828_1830del (p.Lys610del) rs2140119756
NM_004239.4(TRIP11):c.185C>A (p.Ala62Glu)
NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del) rs749191728
NM_004239.4(TRIP11):c.1935A>G (p.Lys645=) rs748335821
NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly) rs369583157
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.1993A>G (p.Asn665Asp)
NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe) rs762335316
NM_004239.4(TRIP11):c.2015C>T (p.Ala672Val) rs1177784939
NM_004239.4(TRIP11):c.2023G>A (p.Val675Ile)
NM_004239.4(TRIP11):c.2098A>G (p.Asn700Asp) rs2056895078
NM_004239.4(TRIP11):c.210G>T (p.Arg70Ser)
NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala)
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) rs188524590
NM_004239.4(TRIP11):c.2147T>C (p.Met716Thr)
NM_004239.4(TRIP11):c.2189A>G (p.Lys730Arg) rs2056893267
NM_004239.4(TRIP11):c.218A>G (p.Lys73Arg)
NM_004239.4(TRIP11):c.2200G>A (p.Glu734Lys) rs2140119189
NM_004239.4(TRIP11):c.2212A>C (p.Lys738Gln)
NM_004239.4(TRIP11):c.2257A>C (p.Asn753His)
NM_004239.4(TRIP11):c.2257A>G (p.Asn753Asp)
NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn) rs775798114
NM_004239.4(TRIP11):c.2406G>T (p.Glu802Asp) rs2140118820
NM_004239.4(TRIP11):c.2433C>A (p.Asn811Lys) rs2140118782
NM_004239.4(TRIP11):c.2444_2455del (p.Ile815_Glu818del)
NM_004239.4(TRIP11):c.2455A>G (p.Lys819Glu)
NM_004239.4(TRIP11):c.2542A>G (p.Ile848Val)
NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val) rs375135703
NM_004239.4(TRIP11):c.262C>G (p.Gln88Glu)
NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr)
NM_004239.4(TRIP11):c.2665G>C (p.Asp889His)
NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) rs886050907
NM_004239.4(TRIP11):c.2741A>C (p.His914Pro) rs147530260
NM_004239.4(TRIP11):c.2758G>A (p.Glu920Lys)
NM_004239.4(TRIP11):c.2821G>A (p.Asp941Asn)
NM_004239.4(TRIP11):c.2884G>T (p.Asp962Tyr) rs2140118037
NM_004239.4(TRIP11):c.2909A>G (p.Lys970Arg) rs2140118009
NM_004239.4(TRIP11):c.2971T>G (p.Ser991Ala)
NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val)
NM_004239.4(TRIP11):c.312+6T>C
NM_004239.4(TRIP11):c.3133C>A (p.Gln1045Lys) rs2140117610
NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr)
NM_004239.4(TRIP11):c.3233C>T (p.Thr1078Ile) rs2056875659
NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser) rs1378528757
NM_004239.4(TRIP11):c.3467G>C (p.Arg1156Thr) rs2140117119
NM_004239.4(TRIP11):c.3475A>G (p.Ile1159Val)
NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe)
NM_004239.4(TRIP11):c.3619C>T (p.Leu1207Phe) rs1595387309
NM_004239.4(TRIP11):c.3622C>A (p.Leu1208Ile)
NM_004239.4(TRIP11):c.3629A>T (p.Glu1210Val)
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) rs769979770
NM_004239.4(TRIP11):c.3728A>G (p.Gln1243Arg)
NM_004239.4(TRIP11):c.3773A>T (p.Asp1258Val)
NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) rs886050906
NM_004239.4(TRIP11):c.379G>C (p.Ala127Pro)
NM_004239.4(TRIP11):c.3821A>G (p.Tyr1274Cys) rs2056866244
NM_004239.4(TRIP11):c.3821A>T (p.Tyr1274Phe) rs2056866244
NM_004239.4(TRIP11):c.3823G>A (p.Glu1275Lys)
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly) rs781290694
NM_004239.4(TRIP11):c.3891G>C (p.Gln1297His) rs2056864796
NM_004239.4(TRIP11):c.3910C>A (p.Leu1304Ile) rs2140116435
NM_004239.4(TRIP11):c.3953C>G (p.Ser1318Cys)
NM_004239.4(TRIP11):c.4006G>C (p.Glu1336Gln)
NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys)
NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg)
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr) rs1595386646
NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del) rs1216670947
NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro)
NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)
NM_004239.4(TRIP11):c.4330G>A (p.Val1444Ile) rs779575181
NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu) rs779575181
NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys) rs2056856064
NM_004239.4(TRIP11):c.4392A>T (p.Glu1464Asp)
NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys)
NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp)
NM_004239.4(TRIP11):c.4447C>A (p.Gln1483Lys) rs767207472
NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro) rs775469397
NM_004239.4(TRIP11):c.4519G>A (p.Ala1507Thr) rs1348628757
NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro)
NM_004239.4(TRIP11):c.4567G>A (p.Gly1523Arg)
NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)
NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg)
NM_004239.4(TRIP11):c.4649T>C (p.Met1550Thr) rs2056802217
NM_004239.4(TRIP11):c.4699-4C>G rs886050905
NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)
NM_004239.4(TRIP11):c.4760A>G (p.His1587Arg) rs1466787615
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) rs886050904
NM_004239.4(TRIP11):c.4790G>A (p.Arg1597His)
NM_004239.4(TRIP11):c.4800G>C (p.Leu1600Phe) rs1251996329
NM_004239.4(TRIP11):c.4817A>G (p.Glu1606Gly)
NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu)
NM_004239.4(TRIP11):c.4828A>G (p.Arg1610Gly) rs1566855488
NM_004239.4(TRIP11):c.4851G>C (p.Glu1617Asp) rs142530328
NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser)
NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser)
NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg)
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val) rs542557164
NM_004239.4(TRIP11):c.5161-3C>G rs2140097525
NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly) rs2140097477
NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly)
NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala)
NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu)
NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe) rs2056450408
NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe)
NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln)
NM_004239.4(TRIP11):c.5449A>T (p.Met1817Leu) rs980314175
NM_004239.4(TRIP11):c.5457+13T>A rs886050903
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys) rs1051340
NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala)
NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg)
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)
NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)
NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu) rs149079426
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) rs149079426
NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)
NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val)
NM_004239.4(TRIP11):c.604G>A (p.Gly202Arg)
NM_004239.4(TRIP11):c.633A>G (p.Ile211Met) rs2140133290
NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_004239.4(TRIP11):c.688G>A (p.Asp230Asn)
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) rs373532678
NM_004239.4(TRIP11):c.863A>G (p.Tyr288Cys)
NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr)
NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu)
NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)
NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser)
NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val)
NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala)
NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr)
NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) rs2050683099
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys) rs376157050
NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys)
NM_004247.4(EFTUD2):c.1655T>C (p.Ile552Thr)
NM_004247.4(EFTUD2):c.1783G>T (p.Val595Phe)
NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser)
NM_004247.4(EFTUD2):c.1861-9_1861-7del rs2050611350
NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His) rs2145455460
NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) rs2050609262
NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg)
NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) rs1567728359
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn) rs2051147769
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) rs2051340680
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) rs2145532453
NM_004247.4(EFTUD2):c.702+3_702+4delinsAG
NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln)
NM_004252.5(NHERF1):c.107G>A (p.Gly36Asp)
NM_004252.5(NHERF1):c.809G>A (p.Arg270His)
NM_004260.3(RECQL4):c.600_602inv (p.Asp200_Phe201delinsGluAsn)
NM_004260.4(RECQL4):c.-1C>T
NM_004260.4(RECQL4):c.1000G>A (p.Glu334Lys) rs1814909763
NM_004260.4(RECQL4):c.1000G>C (p.Glu334Gln)
NM_004260.4(RECQL4):c.1001A>G (p.Glu334Gly)
NM_004260.4(RECQL4):c.1002G>C (p.Glu334Asp)
NM_004260.4(RECQL4):c.1003G>A (p.Gly335Ser) rs2130718181
NM_004260.4(RECQL4):c.1004G>A (p.Gly335Asp) rs915387235
NM_004260.4(RECQL4):c.1006A>C (p.Thr336Pro) rs2130718095
NM_004260.4(RECQL4):c.1009G>T (p.Ala337Ser) rs1171953080
NM_004260.4(RECQL4):c.1010C>A (p.Ala337Asp) rs1434732916
NM_004260.4(RECQL4):c.1010C>G (p.Ala337Gly)
NM_004260.4(RECQL4):c.1010C>T (p.Ala337Val) rs1434732916
NM_004260.4(RECQL4):c.1012C>A (p.Pro338Thr) rs754299237
NM_004260.4(RECQL4):c.1013C>A (p.Pro338His) rs1554902388
NM_004260.4(RECQL4):c.1013C>T (p.Pro338Leu) rs1554902388
NM_004260.4(RECQL4):c.1015C>G (p.Leu339Val)
NM_004260.4(RECQL4):c.1016T>C (p.Leu339Pro) rs1554902362
NM_004260.4(RECQL4):c.1018C>T (p.His340Tyr)
NM_004260.4(RECQL4):c.101C>T (p.Ala34Val)
NM_004260.4(RECQL4):c.1028C>G (p.Pro343Arg) rs549381989
NM_004260.4(RECQL4):c.1031G>C (p.Arg344Pro) rs745874353
NM_004260.4(RECQL4):c.1031G>T (p.Arg344Leu) rs745874353
NM_004260.4(RECQL4):c.1033C>T (p.Leu345=)
NM_004260.4(RECQL4):c.1034T>C (p.Leu345Pro)
NM_004260.4(RECQL4):c.1035G>A (p.Leu345=)
NM_004260.4(RECQL4):c.1036G>T (p.Ala346Ser)
NM_004260.4(RECQL4):c.1037C>G (p.Ala346Gly) rs746740293
NM_004260.4(RECQL4):c.103C>G (p.Pro35Ala) rs1304842985
NM_004260.4(RECQL4):c.1040G>C (p.Arg347Pro)
NM_004260.4(RECQL4):c.1040G>T (p.Arg347Leu) rs757988816
NM_004260.4(RECQL4):c.1042C>A (p.His348Asn) rs1060501360
NM_004260.4(RECQL4):c.1042C>T (p.His348Tyr) rs1060501360
NM_004260.4(RECQL4):c.1043A>T (p.His348Leu) rs201763704
NM_004260.4(RECQL4):c.1045G>T (p.Asp349Tyr) rs1045634487
NM_004260.4(RECQL4):c.1047C>G (p.Asp349Glu) rs766767449
NM_004260.4(RECQL4):c.104C>G (p.Pro35Arg)
NM_004260.4(RECQL4):c.1050G>C (p.Arg350Ser)
NM_004260.4(RECQL4):c.1051G>A (p.Gly351Ser)
NM_004260.4(RECQL4):c.1052G>A (p.Gly351Asp)
NM_004260.4(RECQL4):c.1053C>G (p.Gly351=)
NM_004260.4(RECQL4):c.1057T>G (p.Tyr353Asp) rs1387465313
NM_004260.4(RECQL4):c.1058A>C (p.Tyr353Ser) rs1564805480
NM_004260.4(RECQL4):c.1058A>G (p.Tyr353Cys) rs1564805480
NM_004260.4(RECQL4):c.1060G>T (p.Val354Leu) rs551940973
NM_004260.4(RECQL4):c.1063C>T (p.Arg355Trp) rs368601097
NM_004260.4(RECQL4):c.1064G>C (p.Arg355Pro) rs374743591
NM_004260.4(RECQL4):c.1064G>T (p.Arg355Leu) rs374743591
NM_004260.4(RECQL4):c.1067T>C (p.Leu356Pro)
NM_004260.4(RECQL4):c.1068_1094del (p.Asn357_Arg365del) rs1828134241
NM_004260.4(RECQL4):c.1069A>G (p.Asn357Asp) rs772924895
NM_004260.4(RECQL4):c.106G>A (p.Glu36Lys)
NM_004260.4(RECQL4):c.106G>C (p.Glu36Gln) rs1815402122
NM_004260.4(RECQL4):c.106GAG[1] (p.Glu37del) rs1239043035
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) rs376652305
NM_004260.4(RECQL4):c.1074G>A (p.Met358Ile) rs2130716492
NM_004260.4(RECQL4):c.1076A>G (p.Lys359Arg) rs2130716448
NM_004260.4(RECQL4):c.1077G>C (p.Lys359Asn) rs533185057
NM_004260.4(RECQL4):c.1077G>T (p.Lys359Asn)
NM_004260.4(RECQL4):c.1078C>G (p.Gln360Glu) rs375236875
NM_004260.4(RECQL4):c.1080G>C (p.Gln360His) rs768049351
NM_004260.4(RECQL4):c.1082A>G (p.Lys361Arg) rs2130716323
NM_004260.4(RECQL4):c.1086C>G (p.His362Gln) rs1828136142
NM_004260.4(RECQL4):c.1087T>C (p.Tyr363His) rs2130716237
NM_004260.4(RECQL4):c.1090G>C (p.Val364Leu)
NM_004260.4(RECQL4):c.1090G>T (p.Val364Leu) rs144637135
NM_004260.4(RECQL4):c.1091T>C (p.Val364Ala)
NM_004260.4(RECQL4):c.1093C>G (p.Arg365Gly)
NM_004260.4(RECQL4):c.1093C>T (p.Arg365Trp) rs1220847881
NM_004260.4(RECQL4):c.1096G>T (p.Gly366Cys) rs763114749
NM_004260.4(RECQL4):c.1099C>G (p.Arg367Gly) rs531175632
NM_004260.4(RECQL4):c.1100G>T (p.Arg367Leu) rs766344677
NM_004260.4(RECQL4):c.1101G>A (p.Arg367=)
NM_004260.4(RECQL4):c.1103C>A (p.Ala368Glu) rs1564805178
NM_004260.4(RECQL4):c.1103C>T (p.Ala368Val) rs1564805178
NM_004260.4(RECQL4):c.1106T>C (p.Leu369Pro)
NM_004260.4(RECQL4):c.1106T>G (p.Leu369Arg) rs1586821015
NM_004260.4(RECQL4):c.1111A>G (p.Ser371Gly)
NM_004260.4(RECQL4):c.1116G>T (p.Arg372Ser) rs779492418
NM_004260.4(RECQL4):c.1120C>T (p.Leu374Phe) rs2130715472
NM_004260.4(RECQL4):c.1124G>T (p.Arg375Leu)
NM_004260.4(RECQL4):c.1125C>T (p.Arg375=) rs560231629
NM_004260.4(RECQL4):c.112A>C (p.Thr38Pro)
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) rs944826681
NM_004260.4(RECQL4):c.1131+17C>T rs2130714925
NM_004260.4(RECQL4):c.1131+3A>G rs1218791786
NM_004260.4(RECQL4):c.1131+3A>T rs1218791786
NM_004260.4(RECQL4):c.1131+4A>G rs1828124749
NM_004260.4(RECQL4):c.1131G>C (p.Gln377His) rs911864123
NM_004260.4(RECQL4):c.1132-11G>C
NM_004260.4(RECQL4):c.1132-13G>A
NM_004260.4(RECQL4):c.1132-3C>G rs1586819954
NM_004260.4(RECQL4):c.1132-6C>T rs2130713970
NM_004260.4(RECQL4):c.1132-8C>G
NM_004260.4(RECQL4):c.1132G>A (p.Ala378Thr)
NM_004260.4(RECQL4):c.1135T>C (p.Trp379Arg)
NM_004260.4(RECQL4):c.113C>A (p.Thr38Asn) rs1348040384
NM_004260.4(RECQL4):c.113C>G (p.Thr38Ser) rs1348040384
NM_004260.4(RECQL4):c.1140G>T (p.Lys380Asn) rs1159732841
NM_004260.4(RECQL4):c.1143G>C (p.Gln381His)
NM_004260.4(RECQL4):c.1146G>C (p.Lys382Asn) rs759321310
NM_004260.4(RECQL4):c.1147T>C (p.Trp383Arg) rs1828094038
NM_004260.4(RECQL4):c.1150C>G (p.Arg384Gly) rs766026341
NM_004260.4(RECQL4):c.1151G>T (p.Arg384Leu) rs376045624
NM_004260.4(RECQL4):c.1154A>G (p.Lys385Arg) rs2130713589
NM_004260.4(RECQL4):c.115C>A (p.Arg39Ser) rs1815399959
NM_004260.4(RECQL4):c.1160G>A (p.Gly387Glu)
NM_004260.4(RECQL4):c.1166G>A (p.Cys389Tyr) rs1828090979
NM_004260.4(RECQL4):c.1169T>C (p.Phe390Ser) rs1586819715
NM_004260.4(RECQL4):c.1169T>G (p.Phe390Cys) rs1586819715
NM_004260.4(RECQL4):c.116G>A (p.Arg39His) rs1815399637
NM_004260.4(RECQL4):c.116G>T (p.Arg39Leu) rs1815399637
NM_004260.4(RECQL4):c.1172G>C (p.Gly391Ala) rs1225552858
NM_004260.4(RECQL4):c.1175G>A (p.Gly392Asp) rs745923592
NM_004260.4(RECQL4):c.1175G>C (p.Gly392Ala) rs745923592
NM_004260.4(RECQL4):c.1175GTG[2] (p.Gly394del) rs1828087096
NM_004260.4(RECQL4):c.1176T>C (p.Gly392=)
NM_004260.4(RECQL4):c.1178G>A (p.Gly393Asp)
NM_004260.4(RECQL4):c.1178G>T (p.Gly393Val)
NM_004260.4(RECQL4):c.118+13C>G
NM_004260.4(RECQL4):c.118+13_118+14insGCGGCTGG
NM_004260.4(RECQL4):c.118+16G>A
NM_004260.4(RECQL4):c.118+3G>A rs1815398834
NM_004260.4(RECQL4):c.118+3G>T rs1815398834
NM_004260.4(RECQL4):c.118+4A>C rs775068771
NM_004260.4(RECQL4):c.118+4A>G
NM_004260.4(RECQL4):c.118+6C>G rs1343975009
NM_004260.4(RECQL4):c.1180G>A (p.Gly394Ser) rs1828087724
NM_004260.4(RECQL4):c.1181G>T (p.Gly394Val) rs1167568999
NM_004260.4(RECQL4):c.1182T>C (p.Gly394=)
NM_004260.4(RECQL4):c.1184C>G (p.Ala395Gly) rs758299060
NM_004260.4(RECQL4):c.1186A>G (p.Thr396Ala) rs2130713097
NM_004260.4(RECQL4):c.1189G>A (p.Val397Ile) rs867681178
NM_004260.4(RECQL4):c.118G>A (p.Ala40Thr)
NM_004260.4(RECQL4):c.119-20C>A
NM_004260.4(RECQL4):c.1192A>C (p.Thr398Pro) rs765190572
NM_004260.4(RECQL4):c.1193C>A (p.Thr398Lys) rs1434143797
NM_004260.4(RECQL4):c.1193C>T (p.Thr398Ile) rs1434143797
NM_004260.4(RECQL4):c.1196C>T (p.Thr399Ile) rs1828084287
NM_004260.4(RECQL4):c.1198A>G (p.Lys400Glu) rs1828083852
NM_004260.4(RECQL4):c.119C>T (p.Ala40Val) rs1320945281
NM_004260.4(RECQL4):c.1200G>C (p.Lys400Asn) rs2130712891
NM_004260.4(RECQL4):c.1201G>A (p.Glu401Lys)
NM_004260.4(RECQL4):c.1202A>G (p.Glu401Gly) rs2130712857
NM_004260.4(RECQL4):c.1204T>A (p.Ser402Thr) rs2130712812
NM_004260.4(RECQL4):c.1210T>C (p.Phe404Leu) rs1828082019
NM_004260.4(RECQL4):c.1211_1212delinsCT (p.Phe404Ser) rs2130712707
NM_004260.4(RECQL4):c.1217A>G (p.Asn406Ser) rs1344133538
NM_004260.4(RECQL4):c.121C>A (p.Leu41Ile) rs776083037
NM_004260.4(RECQL4):c.121C>T (p.Leu41Phe) rs776083037
NM_004260.4(RECQL4):c.1220A>C (p.Glu407Ala) rs1564804098
NM_004260.4(RECQL4):c.1223A>G (p.Gln408Arg)
NM_004260.4(RECQL4):c.1227C>G (p.Phe409Leu) rs1060504219
NM_004260.4(RECQL4):c.1228G>A (p.Asp410Asn) rs558779399
NM_004260.4(RECQL4):c.1229A>G (p.Asp410Gly) rs1554901692
NM_004260.4(RECQL4):c.122T>C (p.Leu41Pro)
NM_004260.4(RECQL4):c.1231C>G (p.His411Asp)
NM_004260.4(RECQL4):c.1231C>T (p.His411Tyr)
NM_004260.4(RECQL4):c.1232A>C (p.His411Pro) rs1464725893
NM_004260.4(RECQL4):c.1234T>C (p.Trp412Arg) rs377546182
NM_004260.4(RECQL4):c.1238C>A (p.Ala413Glu)
NM_004260.4(RECQL4):c.1241C>T (p.Ala414Val)
NM_004260.4(RECQL4):c.1244A>C (p.Gln415Pro) rs1478973162
NM_004260.4(RECQL4):c.1249C>A (p.Pro417Thr) rs1457479453
NM_004260.4(RECQL4):c.124T>C (p.Tyr42His)
NM_004260.4(RECQL4):c.1252C>A (p.Arg418=)
NM_004260.4(RECQL4):c.1253G>A (p.Arg418Gln) rs548957135
NM_004260.4(RECQL4):c.1253G>T (p.Arg418Leu)
NM_004260.4(RECQL4):c.1253_1254delinsAA (p.Arg418Gln)
NM_004260.4(RECQL4):c.1257A>G (p.Pro419=) rs2130711922
NM_004260.4(RECQL4):c.1258+5G>C rs1828073339
NM_004260.4(RECQL4):c.1258+5_1258+6delinsAT rs2130711870
NM_004260.4(RECQL4):c.1258+6A>C rs34437789
NM_004260.4(RECQL4):c.1258+6A>G rs34437789
NM_004260.4(RECQL4):c.1258G>C (p.Ala420Pro) rs2130711913
NM_004260.4(RECQL4):c.1259-10C>T
NM_004260.4(RECQL4):c.1262G>A (p.Ser421Asn) rs777333651
NM_004260.4(RECQL4):c.1263T>G (p.Ser421Arg)
NM_004260.4(RECQL4):c.1266G>A (p.Glu422=) rs2130709010
NM_004260.4(RECQL4):c.1267G>A (p.Glu423Lys) rs1828019195
NM_004260.4(RECQL4):c.1270G>C (p.Asp424His) rs765611938
NM_004260.4(RECQL4):c.1270_1271delinsAT (p.Asp424Ile) rs2130708945
NM_004260.4(RECQL4):c.1272C>G (p.Asp424Glu) rs1586817672
NM_004260.4(RECQL4):c.1274C>G (p.Thr425Arg) rs1266028485
NM_004260.4(RECQL4):c.1274C>T (p.Thr425Ile)
NM_004260.4(RECQL4):c.1276G>A (p.Asp426Asn) rs1048010208
NM_004260.4(RECQL4):c.1280C>A (p.Ala427Asp) rs2130708802
NM_004260.4(RECQL4):c.1282G>C (p.Val428Leu)
NM_004260.4(RECQL4):c.1283T>C (p.Val428Ala)
NM_004260.4(RECQL4):c.1285G>A (p.Gly429Arg) rs1828017237
NM_004260.4(RECQL4):c.1289C>G (p.Pro430Arg)
NM_004260.4(RECQL4):c.1289C>T (p.Pro430Leu)
NM_004260.4(RECQL4):c.128G>A (p.Arg43Gln) rs1169021603
NM_004260.4(RECQL4):c.128G>T (p.Arg43Leu) rs1169021603
NM_004260.4(RECQL4):c.1290T>G (p.Pro430=)
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) rs1828015944
NM_004260.4(RECQL4):c.1298T>G (p.Leu433Arg)
NM_004260.4(RECQL4):c.1300G>A (p.Val434Ile) rs761938967
NM_004260.4(RECQL4):c.1303C>G (p.Pro435Ala)
NM_004260.4(RECQL4):c.1304C>T (p.Pro435Leu) rs2130708528
NM_004260.4(RECQL4):c.1306T>C (p.Ser436Pro) rs1564803061
NM_004260.4(RECQL4):c.1307C>T (p.Ser436Leu) rs2130708487
NM_004260.4(RECQL4):c.1312C>G (p.Gln438Glu)
NM_004260.4(RECQL4):c.1314A>G (p.Gln438=)
NM_004260.4(RECQL4):c.1316C>G (p.Pro439Arg) rs1586817456
NM_004260.4(RECQL4):c.1316C>T (p.Pro439Leu)
NM_004260.4(RECQL4):c.1319T>G (p.Val440Gly) rs1828012949
NM_004260.4(RECQL4):c.1321C>G (p.Pro441Ala)
NM_004260.4(RECQL4):c.1322C>T (p.Pro441Leu) rs943887894
NM_004260.4(RECQL4):c.1325A>C (p.Glu442Ala) rs1828012352
NM_004260.4(RECQL4):c.1327G>A (p.Val443Met) rs375694004
NM_004260.4(RECQL4):c.1328T>G (p.Val443Gly) rs1554901232
NM_004260.4(RECQL4):c.1329G>A (p.Val443=)
NM_004260.4(RECQL4):c.1333A>G (p.Ser445Gly)
NM_004260.4(RECQL4):c.1334G>A (p.Ser445Asn)
NM_004260.4(RECQL4):c.1334G>C (p.Ser445Thr) rs747571861
NM_004260.4(RECQL4):c.1342C>G (p.Pro448Ala) rs1586817338
NM_004260.4(RECQL4):c.1342C>T (p.Pro448Ser) rs1586817338
NM_004260.4(RECQL4):c.1343C>T (p.Pro448Leu)
NM_004260.4(RECQL4):c.1345A>G (p.Thr449Ala) rs535692036
NM_004260.4(RECQL4):c.1346C>A (p.Thr449Asn) rs1828009684
NM_004260.4(RECQL4):c.1346C>T (p.Thr449Ile) rs1828009684
NM_004260.4(RECQL4):c.134A>G (p.Tyr45Cys)
NM_004260.4(RECQL4):c.1354C>A (p.Pro452Thr) rs1198908673
NM_004260.4(RECQL4):c.1355C>T (p.Pro452Leu)
NM_004260.4(RECQL4):c.1357C>G (p.Leu453Val) rs754354054
NM_004260.4(RECQL4):c.1357C>T (p.Leu453Phe) rs754354054
NM_004260.4(RECQL4):c.1358T>C (p.Leu453Pro) rs766718254
NM_004260.4(RECQL4):c.1364C>T (p.Ser455Phe) rs1586817192
NM_004260.4(RECQL4):c.1367T>C (p.Leu456Pro) rs2130707777
NM_004260.4(RECQL4):c.1369G>A (p.Gly457Arg) rs750720279
NM_004260.4(RECQL4):c.136C>G (p.Arg46Gly)
NM_004260.4(RECQL4):c.136C>T (p.Arg46Cys) rs1268307700
NM_004260.4(RECQL4):c.1370G>A (p.Gly457Glu)
NM_004260.4(RECQL4):c.1371G>A (p.Gly457=)
NM_004260.4(RECQL4):c.1375T>C (p.Ser459Pro) rs1828003048
NM_004260.4(RECQL4):c.1379G>A (p.Gly460Glu) rs764224012
NM_004260.4(RECQL4):c.1390+12_1390+13delinsAA
NM_004260.4(RECQL4):c.1390+19G>T
NM_004260.4(RECQL4):c.1390+20C>G
NM_004260.4(RECQL4):c.1393A>G (p.Thr465Ala) rs1586816517
NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) rs562809072
NM_004260.4(RECQL4):c.1396C>T (p.Pro466Ser) rs562809072
NM_004260.4(RECQL4):c.1399G>A (p.Ala467Thr) rs770371344
NM_004260.4(RECQL4):c.139A>T (p.Thr47Ser) rs779041769
NM_004260.4(RECQL4):c.13C>T (p.Arg5Trp) rs557142503
NM_004260.4(RECQL4):c.1402G>A (p.Glu468Lys)
NM_004260.4(RECQL4):c.1404G>C (p.Glu468Asp) rs371046973
NM_004260.4(RECQL4):c.1405G>A (p.Val469Met)
NM_004260.4(RECQL4):c.1414_1415delinsTT (p.Ala472Phe) rs1827984088
NM_004260.4(RECQL4):c.1415C>A (p.Ala472Asp) rs587778653
NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val) rs587778654
NM_004260.4(RECQL4):c.1420G>A (p.Glu474Lys) rs2130706215
NM_004260.4(RECQL4):c.1424_1425delinsCC (p.Gln475Pro) rs1827982877
NM_004260.4(RECQL4):c.1425G>C (p.Gln475His) rs1263862786
NM_004260.4(RECQL4):c.1429G>A (p.Gly477Arg)
NM_004260.4(RECQL4):c.142C>G (p.Leu48Val)
NM_004260.4(RECQL4):c.1430G>A (p.Gly477Glu)
NM_004260.4(RECQL4):c.1432C>A (p.His478Asn)
NM_004260.4(RECQL4):c.1433A>G (p.His478Arg) rs925385244
NM_004260.4(RECQL4):c.1435C>G (p.Gln479Glu)
NM_004260.4(RECQL4):c.1437A>C (p.Gln479His) rs2130706041
NM_004260.4(RECQL4):c.1438G>A (p.Ala480Thr)
NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp) rs767337200
NM_004260.4(RECQL4):c.1439C>G (p.Ala480Gly) rs767337200
NM_004260.4(RECQL4):c.1439C>T (p.Ala480Val) rs767337200
NM_004260.4(RECQL4):c.1442T>C (p.Phe481Ser) rs1586816237
NM_004260.4(RECQL4):c.1442T>G (p.Phe481Cys) rs1586816237
NM_004260.4(RECQL4):c.1444C>A (p.Arg482Ser) rs573164516
NM_004260.4(RECQL4):c.1445G>C (p.Arg482Pro) rs751616549
NM_004260.4(RECQL4):c.1445G>T (p.Arg482Leu)
NM_004260.4(RECQL4):c.1447C>G (p.Pro483Ala)
NM_004260.4(RECQL4):c.1447C>T (p.Pro483Ser)
NM_004260.4(RECQL4):c.1448C>T (p.Pro483Leu)
NM_004260.4(RECQL4):c.1451G>A (p.Gly484Glu)
NM_004260.4(RECQL4):c.1452G>A (p.Gly484=)
NM_004260.4(RECQL4):c.1454A>G (p.Gln485Arg)
NM_004260.4(RECQL4):c.1463C>T (p.Ala488Val) rs2130705655
NM_004260.4(RECQL4):c.1465G>C (p.Val489Leu) rs1250323268
NM_004260.4(RECQL4):c.1465G>T (p.Val489Phe)
NM_004260.4(RECQL4):c.1468A>T (p.Met490Leu)
NM_004260.4(RECQL4):c.1469T>C (p.Met490Thr) rs1554900934
NM_004260.4(RECQL4):c.146A>G (p.Lys49Arg)
NM_004260.4(RECQL4):c.1470G>C (p.Met490Ile) rs1464951222
NM_004260.4(RECQL4):c.1474A>G (p.Ile492Val) rs1564802069
NM_004260.4(RECQL4):c.1478T>C (p.Leu493Pro) rs1245043798
NM_004260.4(RECQL4):c.147G>C (p.Lys49Asn) rs1815360727
NM_004260.4(RECQL4):c.1481C>T (p.Ser494Phe)
NM_004260.4(RECQL4):c.1483+15C>A
NM_004260.4(RECQL4):c.1483+3G>T rs771224692
NM_004260.4(RECQL4):c.1483+4A>C rs962228942
NM_004260.4(RECQL4):c.1483+6C>G
NM_004260.4(RECQL4):c.1483G>C (p.Gly495Arg)
NM_004260.4(RECQL4):c.1484-8C>A rs1235697567
NM_004260.4(RECQL4):c.1486A>T (p.Ile496Phe) rs2130704497
NM_004260.4(RECQL4):c.1487T>G (p.Ile496Ser)
NM_004260.4(RECQL4):c.148C>T (p.Arg50Cys) rs1325079305
NM_004260.4(RECQL4):c.1490C>A (p.Ser497Tyr) rs1586815479
NM_004260.4(RECQL4):c.1490C>G (p.Ser497Cys) rs1586815479
NM_004260.4(RECQL4):c.1492A>G (p.Thr498Ala)
NM_004260.4(RECQL4):c.14G>A (p.Arg5Gln) rs1815447241
NM_004260.4(RECQL4):c.14G>T (p.Arg5Leu) rs1815447241
NM_004260.4(RECQL4):c.14_34del (p.Arg5_Leu11del) rs1445577376
NM_004260.4(RECQL4):c.14_34dup (p.Arg5_Leu11dup) rs1445577376
NM_004260.4(RECQL4):c.1505T>G (p.Leu502Arg)
NM_004260.4(RECQL4):c.1507C>G (p.Pro503Ala) rs2130704218
NM_004260.4(RECQL4):c.1514G>A (p.Gly505Asp) rs1004394987
NM_004260.4(RECQL4):c.1514G>C (p.Gly505Ala) rs1004394987
NM_004260.4(RECQL4):c.1516G>A (p.Ala506Thr)
NM_004260.4(RECQL4):c.1516G>C (p.Ala506Pro) rs1473530499
NM_004260.4(RECQL4):c.1520G>A (p.Gly507Asp)
NM_004260.4(RECQL4):c.1529T>C (p.Leu510Pro) rs1564801649
NM_004260.4(RECQL4):c.152C>T (p.Thr51Ile) rs1308346776
NM_004260.4(RECQL4):c.1531T>G (p.Cys511Gly) rs1226284707
NM_004260.4(RECQL4):c.1535A>G (p.Tyr512Cys) rs2130703806
NM_004260.4(RECQL4):c.1539G>C (p.Gln513His) rs1358624560
NM_004260.4(RECQL4):c.1539G>T (p.Gln513His)
NM_004260.4(RECQL4):c.1544C>G (p.Pro515Arg) rs1260540483
NM_004260.4(RECQL4):c.1547C>G (p.Ala516Gly)
NM_004260.4(RECQL4):c.1547C>T (p.Ala516Val) rs762113412
NM_004260.4(RECQL4):c.1552_1553delinsGC (p.Leu518Ala) rs1827944394
NM_004260.4(RECQL4):c.1553T>C (p.Leu518Pro) rs2130703525
NM_004260.4(RECQL4):c.1554C>G (p.Leu518=)
NM_004260.4(RECQL4):c.1555_1560del (p.Tyr519_Ser520del) rs1210416985
NM_004260.4(RECQL4):c.1556A>C (p.Tyr519Ser) rs1038685366
NM_004260.4(RECQL4):c.1556A>G (p.Tyr519Cys) rs1038685366
NM_004260.4(RECQL4):c.1558A>G (p.Ser520Gly) rs1827943643
NM_004260.4(RECQL4):c.1559G>C (p.Ser520Thr) rs936553682
NM_004260.4(RECQL4):c.1559G>T (p.Ser520Ile)
NM_004260.4(RECQL4):c.155C>T (p.Thr52Met) rs878854641
NM_004260.4(RECQL4):c.1562G>C (p.Arg521Pro)
NM_004260.4(RECQL4):c.1568G>A (p.Ser523Asn) rs754735053
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.1570C>A (p.Pro524Thr)
NM_004260.4(RECQL4):c.1573T>G (p.Cys525Gly)
NM_004260.4(RECQL4):c.1574G>C (p.Cys525Ser) rs2130703120
NM_004260.4(RECQL4):c.1575C>G (p.Cys525Trp) rs1318317428
NM_004260.4(RECQL4):c.157G>A (p.Gly53Ser) rs1171989536
NM_004260.4(RECQL4):c.1580C>T (p.Thr527Met) rs766354337
NM_004260.4(RECQL4):c.1584G>C (p.Leu528Phe)
NM_004260.4(RECQL4):c.1585GTC[3] (p.Val530dup) rs778439963
NM_004260.4(RECQL4):c.1588G>A (p.Val530Ile) rs1554900626
NM_004260.4(RECQL4):c.158G>C (p.Gly53Ala) rs1381844543
NM_004260.4(RECQL4):c.158G>T (p.Gly53Val) rs1381844543
NM_004260.4(RECQL4):c.1592C>A (p.Ser531Tyr) rs774637277
NM_004260.4(RECQL4):c.1594C>T (p.Pro532Ser)
NM_004260.4(RECQL4):c.1595C>T (p.Pro532Leu) rs1827933646
NM_004260.4(RECQL4):c.1597C>G (p.Leu533Val) rs769939735
NM_004260.4(RECQL4):c.1601T>C (p.Leu534Pro) rs1309254569
NM_004260.4(RECQL4):c.1603T>C (p.Ser535Pro) rs777773509
NM_004260.4(RECQL4):c.1610T>C (p.Met537Thr)
NM_004260.4(RECQL4):c.1614T>G (p.Asp538Glu) rs563786469
NM_004260.4(RECQL4):c.1615G>C (p.Asp539His) rs1219418730
NM_004260.4(RECQL4):c.1619A>C (p.Gln540Pro) rs754788555
NM_004260.4(RECQL4):c.1619A>G (p.Gln540Arg) rs754788555
NM_004260.4(RECQL4):c.161A>C (p.Gln54Pro) rs35198096
NM_004260.4(RECQL4):c.1620+15C>A rs762377220
NM_004260.4(RECQL4):c.1620+3G>C rs1827929677
NM_004260.4(RECQL4):c.1620+5G>A rs1375331593
NM_004260.4(RECQL4):c.1620+6C>T rs753574521
NM_004260.4(RECQL4):c.1620G>A (p.Gln540=) rs1827929982
NM_004260.4(RECQL4):c.1620G>C (p.Gln540His) rs1827929982
NM_004260.4(RECQL4):c.1621-3C>G rs1827866210
NM_004260.4(RECQL4):c.1621-3C>T
NM_004260.4(RECQL4):c.1621-5T>A rs2130699130
NM_004260.4(RECQL4):c.1621-6T>A rs2130699137
NM_004260.4(RECQL4):c.1621G>A (p.Val541Met) rs1827866032
NM_004260.4(RECQL4):c.1621G>C (p.Val541Leu) rs1827866032
NM_004260.4(RECQL4):c.1627G>A (p.Gly543Ser) rs1193351573
NM_004260.4(RECQL4):c.1629C>T (p.Gly543=)
NM_004260.4(RECQL4):c.162G>T (p.Gln54His)
NM_004260.4(RECQL4):c.1633C>T (p.Pro545Ser) rs1398698946
NM_004260.4(RECQL4):c.1634C>T (p.Pro545Leu) rs2130698914
NM_004260.4(RECQL4):c.1635_1637del (p.Pro546del) rs1827863465
NM_004260.4(RECQL4):c.1637C>G (p.Pro546Arg) rs377298374
NM_004260.4(RECQL4):c.163_164delinsTT (p.Ala55Phe) rs1815354359
NM_004260.4(RECQL4):c.1645A>G (p.Lys549Glu) rs542466006
NM_004260.4(RECQL4):c.1646A>G (p.Lys549Arg) rs1827862355
NM_004260.4(RECQL4):c.1647G>C (p.Lys549Asn) rs371972881
NM_004260.4(RECQL4):c.1648G>A (p.Ala550Thr)
NM_004260.4(RECQL4):c.1649C>G (p.Ala550Gly) rs764297840
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1651G>A (p.Ala551Thr)
NM_004260.4(RECQL4):c.1652C>A (p.Ala551Asp) rs587778643
NM_004260.4(RECQL4):c.1652C>G (p.Ala551Gly) rs587778643
NM_004260.4(RECQL4):c.1657A>G (p.Ile553Val)
NM_004260.4(RECQL4):c.1661A>T (p.His554Leu) rs779426316
NM_004260.4(RECQL4):c.1664C>G (p.Ser555Trp)
NM_004260.4(RECQL4):c.1666G>A (p.Gly556Ser) rs756459145
NM_004260.4(RECQL4):c.1667G>T (p.Gly556Val) rs575020739
NM_004260.4(RECQL4):c.1668C>T (p.Gly556=) rs1339382948
NM_004260.4(RECQL4):c.1669A>T (p.Met557Leu) rs1270237157
NM_004260.4(RECQL4):c.166G>T (p.Gly56Cys) rs777837612
NM_004260.4(RECQL4):c.1670T>C (p.Met557Thr) rs1432340675
NM_004260.4(RECQL4):c.1671G>A (p.Met557Ile) rs1564800052
NM_004260.4(RECQL4):c.1673C>T (p.Thr558Ile)
NM_004260.4(RECQL4):c.1676G>A (p.Arg559Lys) rs1324762406
NM_004260.4(RECQL4):c.1676G>C (p.Arg559Thr) rs1324762406
NM_004260.4(RECQL4):c.1677G>C (p.Arg559Ser) rs750667308
NM_004260.4(RECQL4):c.1682A>T (p.Gln561Leu) rs2130698329
NM_004260.4(RECQL4):c.16G>T (p.Asp6Tyr)
NM_004260.4(RECQL4):c.1700A>C (p.Gln567Pro) rs2130698088
NM_004260.4(RECQL4):c.1701G>C (p.Gln567His)
NM_004260.4(RECQL4):c.1702A>G (p.Lys568Glu) rs1222844262
NM_004260.4(RECQL4):c.1704+16G>A
NM_004260.4(RECQL4):c.1704+17C>T
NM_004260.4(RECQL4):c.1704+3G>A rs1210896009
NM_004260.4(RECQL4):c.1704+3G>T
NM_004260.4(RECQL4):c.1704+4G>A
NM_004260.4(RECQL4):c.1704+5G>A rs771504530
NM_004260.4(RECQL4):c.1704+6G>T rs747653079
NM_004260.4(RECQL4):c.1705-11G>T
NM_004260.4(RECQL4):c.1705-17G>C
NM_004260.4(RECQL4):c.1705-23_1705-7dup rs749752883
NM_004260.4(RECQL4):c.1705-7C>A rs1377388737
NM_004260.4(RECQL4):c.1705A>G (p.Ile569Val) rs2130697073
NM_004260.4(RECQL4):c.1708C>G (p.Arg570Gly) rs373178405
NM_004260.4(RECQL4):c.170G>A (p.Gly57Asp)
NM_004260.4(RECQL4):c.1714G>A (p.Ala572Thr) rs1189301415
NM_004260.4(RECQL4):c.1715C>T (p.Ala572Val)
NM_004260.4(RECQL4):c.1718A>G (p.Gln573Arg) rs2130696913
NM_004260.4(RECQL4):c.1720G>C (p.Val574Leu)
NM_004260.4(RECQL4):c.1723C>G (p.His575Asp) rs1214615126
NM_004260.4(RECQL4):c.1724A>G (p.His575Arg)
NM_004260.4(RECQL4):c.1726G>T (p.Val576Leu) rs570331496
NM_004260.4(RECQL4):c.1726_1731dup (p.Val576_Leu577dup) rs1354602225
NM_004260.4(RECQL4):c.1727T>C (p.Val576Ala)
NM_004260.4(RECQL4):c.172G>A (p.Gly58Arg)
NM_004260.4(RECQL4):c.1733T>C (p.Met578Thr) rs1293785230
NM_004260.4(RECQL4):c.1733T>G (p.Met578Arg)
NM_004260.4(RECQL4):c.1734G>A (p.Met578Ile) rs1416552093
NM_004260.4(RECQL4):c.1735C>A (p.Leu579Met)
NM_004260.4(RECQL4):c.1738A>C (p.Thr580Pro) rs1827837140
NM_004260.4(RECQL4):c.1739C>T (p.Thr580Ile)
NM_004260.4(RECQL4):c.173G>A (p.Gly58Glu)
NM_004260.4(RECQL4):c.173G>C (p.Gly58Ala) rs1008942429
NM_004260.4(RECQL4):c.1740A>G (p.Thr580=)
NM_004260.4(RECQL4):c.1741C>T (p.Pro581Ser) rs776147492
NM_004260.4(RECQL4):c.1742C>G (p.Pro581Arg)
NM_004260.4(RECQL4):c.1742C>T (p.Pro581Leu)
NM_004260.4(RECQL4):c.1750C>A (p.Leu584Met) rs2130696442
NM_004260.4(RECQL4):c.1750C>G (p.Leu584Val) rs2130696442
NM_004260.4(RECQL4):c.1751TGG[1] (p.Val585del) rs2130696350
NM_004260.4(RECQL4):c.1753G>C (p.Val585Leu)
NM_004260.4(RECQL4):c.1753G>T (p.Val585Leu) rs770367395
NM_004260.4(RECQL4):c.1754T>C (p.Val585Ala) rs927576418
NM_004260.4(RECQL4):c.1755G>A (p.Val585=) rs539370260
NM_004260.4(RECQL4):c.1756G>T (p.Gly586Trp) rs878854643
NM_004260.4(RECQL4):c.1758G>A (p.Gly586=)
NM_004260.4(RECQL4):c.1759G>A (p.Ala587Thr) rs1586810759
NM_004260.4(RECQL4):c.1759G>C (p.Ala587Pro) rs1586810759
NM_004260.4(RECQL4):c.1759G>T (p.Ala587Ser)
NM_004260.4(RECQL4):c.175C>A (p.Leu59Ile) rs752508496
NM_004260.4(RECQL4):c.1760C>A (p.Ala587Glu) rs747307935
NM_004260.4(RECQL4):c.1763G>C (p.Gly588Ala)
NM_004260.4(RECQL4):c.1765G>A (p.Gly589Ser) rs1060501364
NM_004260.4(RECQL4):c.1766G>A (p.Gly589Asp) rs1586810698
NM_004260.4(RECQL4):c.1766G>C (p.Gly589Ala) rs1586810698
NM_004260.4(RECQL4):c.1769T>C (p.Leu590Pro) rs772166765
NM_004260.4(RECQL4):c.1769T>G (p.Leu590Arg) rs772166765
NM_004260.4(RECQL4):c.176T>C (p.Leu59Pro) rs1815350597
NM_004260.4(RECQL4):c.1771C>A (p.Pro591Thr) rs909777665
NM_004260.4(RECQL4):c.1771C>T (p.Pro591Ser) rs909777665
NM_004260.4(RECQL4):c.1772C>A (p.Pro591His) rs2721191
NM_004260.4(RECQL4):c.1772C>G (p.Pro591Arg) rs2721191
NM_004260.4(RECQL4):c.1774C>G (p.Pro592Ala)
NM_004260.4(RECQL4):c.1775C>T (p.Pro592Leu) rs951288456
NM_004260.4(RECQL4):c.1778C>A (p.Ala593Asp) rs1286553686
NM_004260.4(RECQL4):c.1778C>G (p.Ala593Gly) rs1286553686
NM_004260.4(RECQL4):c.1778C>T (p.Ala593Val)
NM_004260.4(RECQL4):c.1779C>G (p.Ala593=)
NM_004260.4(RECQL4):c.1783C>G (p.Gln595Glu) rs1018200211
NM_004260.4(RECQL4):c.1786C>A (p.Leu596Met) rs2130695683
NM_004260.4(RECQL4):c.1787T>C (p.Leu596Pro) rs1827827905
NM_004260.4(RECQL4):c.178C>T (p.Arg60Cys)
NM_004260.4(RECQL4):c.1790C>T (p.Pro597Leu) rs1586810446
NM_004260.4(RECQL4):c.1792C>G (p.Pro598Ala) rs1827827255
NM_004260.4(RECQL4):c.1792C>T (p.Pro598Ser) rs1827827255
NM_004260.4(RECQL4):c.1793C>G (p.Pro598Arg) rs1010524385
NM_004260.4(RECQL4):c.1793C>T (p.Pro598Leu)
NM_004260.4(RECQL4):c.1795G>A (p.Val599Ile)
NM_004260.4(RECQL4):c.1796T>C (p.Val599Ala)
NM_004260.4(RECQL4):c.1798G>A (p.Ala600Thr)
NM_004260.4(RECQL4):c.1798G>C (p.Ala600Pro)
NM_004260.4(RECQL4):c.1799C>T (p.Ala600Val)
NM_004260.4(RECQL4):c.179G>C (p.Arg60Pro) rs1060501374
NM_004260.4(RECQL4):c.179G>T (p.Arg60Leu) rs1060501374
NM_004260.4(RECQL4):c.17A>T (p.Asp6Val) rs1815445943
NM_004260.4(RECQL4):c.1804G>A (p.Ala602Thr) rs1827825605
NM_004260.4(RECQL4):c.1804G>C (p.Ala602Pro)
NM_004260.4(RECQL4):c.1804G>T (p.Ala602Ser) rs1827825605
NM_004260.4(RECQL4):c.1805C>G (p.Ala602Gly) rs773424120
NM_004260.4(RECQL4):c.1807T>C (p.Cys603Arg) rs1060501379
NM_004260.4(RECQL4):c.1811T>C (p.Ile604Thr) rs1192112207
NM_004260.4(RECQL4):c.1816G>A (p.Glu606Lys) rs878854644
NM_004260.4(RECQL4):c.1819G>A (p.Ala607Thr)
NM_004260.4(RECQL4):c.181A>G (p.Ser61Gly)
NM_004260.4(RECQL4):c.1820C>G (p.Ala607Gly) rs1479605538
NM_004260.4(RECQL4):c.1829T>G (p.Leu610Arg)
NM_004260.4(RECQL4):c.182G>A (p.Ser61Asn) rs1815349306
NM_004260.4(RECQL4):c.1831T>C (p.Ser611Pro) rs2130694941
NM_004260.4(RECQL4):c.1832C>T (p.Ser611Phe) rs766282231
NM_004260.4(RECQL4):c.183C>A (p.Ser61Arg)
NM_004260.4(RECQL4):c.1843C>G (p.His615Asp)
NM_004260.4(RECQL4):c.1844A>C (p.His615Pro) rs1586810045
NM_004260.4(RECQL4):c.1844_1852del (p.His615_Phe617del)
NM_004260.4(RECQL4):c.1845C>A (p.His615Gln)
NM_004260.4(RECQL4):c.1846A>C (p.Asn616His)
NM_004260.4(RECQL4):c.1846A>G (p.Asn616Asp) rs752370500
NM_004260.4(RECQL4):c.1851C>A (p.Phe617Leu)
NM_004260.4(RECQL4):c.1851C>G (p.Phe617Leu) rs754403044
NM_004260.4(RECQL4):c.1852C>G (p.Arg618Gly) rs766726409
NM_004260.4(RECQL4):c.1853G>C (p.Arg618Pro) rs776616498
NM_004260.4(RECQL4):c.1855C>T (p.Pro619Ser) rs773620376
NM_004260.4(RECQL4):c.1856C>T (p.Pro619Leu) rs1586809939
NM_004260.4(RECQL4):c.1858T>C (p.Cys620Arg) rs762061985
NM_004260.4(RECQL4):c.185C>T (p.Ser62Phe) rs1815348340
NM_004260.4(RECQL4):c.1860C>G (p.Cys620Trp) rs1827815076
NM_004260.4(RECQL4):c.1861_1875del (p.Tyr621_Cys625del)
NM_004260.4(RECQL4):c.1864C>G (p.Leu622Val)
NM_004260.4(RECQL4):c.1868G>C (p.Arg623Pro) rs201734382
NM_004260.4(RECQL4):c.1870G>C (p.Val624Leu)
NM_004260.4(RECQL4):c.1877A>G (p.Lys626Arg) rs778391731
NM_004260.4(RECQL4):c.1878+20G>C
NM_004260.4(RECQL4):c.1878+5G>A rs1827811268
NM_004260.4(RECQL4):c.1879-3C>A rs773289669
NM_004260.4(RECQL4):c.1879-3C>T rs773289669
NM_004260.4(RECQL4):c.1879-7G>C
NM_004260.4(RECQL4):c.187G>A (p.Glu63Lys)
NM_004260.4(RECQL4):c.187_188delinsTT (p.Glu63Leu)
NM_004260.4(RECQL4):c.1882C>G (p.Leu628Val)
NM_004260.4(RECQL4):c.1882C>T (p.Leu628Phe) rs1336158277
NM_004260.4(RECQL4):c.1886G>C (p.Arg629Pro) rs761794554
NM_004260.4(RECQL4):c.1889A>C (p.Glu630Ala) rs2130692831
NM_004260.4(RECQL4):c.1889A>G (p.Glu630Gly) rs2130692831
NM_004260.4(RECQL4):c.1889A>T (p.Glu630Val) rs2130692831
NM_004260.4(RECQL4):c.1889_1890delinsCA (p.Glu630Ala) rs2130692809
NM_004260.4(RECQL4):c.1891C>A (p.Arg631Ser) rs748941688
NM_004260.4(RECQL4):c.1892G>C (p.Arg631Pro) rs771179943
NM_004260.4(RECQL4):c.1892G>T (p.Arg631Leu) rs771179943
NM_004260.4(RECQL4):c.1895T>C (p.Met632Thr) rs757829517
NM_004260.4(RECQL4):c.1895T>G (p.Met632Arg) rs757829517
NM_004260.4(RECQL4):c.1896G>A (p.Met632Ile) rs1827792863
NM_004260.4(RECQL4):c.1897G>T (p.Gly633Cys)
NM_004260.4(RECQL4):c.1898G>C (p.Gly633Ala) rs2130692660
NM_004260.4(RECQL4):c.18_26dup (p.Asp6_Arg8dup) rs1554905167
NM_004260.4(RECQL4):c.1901T>C (p.Val634Ala) rs1827791855
NM_004260.4(RECQL4):c.1904A>C (p.His635Pro) rs1291839407
NM_004260.4(RECQL4):c.1906T>C (p.Cys636Arg)
NM_004260.4(RECQL4):c.1909T>C (p.Phe637Leu) rs1554899485
NM_004260.4(RECQL4):c.1916G>A (p.Gly639Asp)
NM_004260.4(RECQL4):c.1916G>T (p.Gly639Val)
NM_004260.4(RECQL4):c.1918C>G (p.Leu640Val)
NM_004260.4(RECQL4):c.1918_1920del (p.Leu640del) rs1564798241
NM_004260.4(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) rs786200890
NM_004260.4(RECQL4):c.191C>G (p.Ser64Trp)
NM_004260.4(RECQL4):c.191C>T (p.Ser64Leu) rs1554904702
NM_004260.4(RECQL4):c.1921A>G (p.Thr641Ala)
NM_004260.4(RECQL4):c.1922C>T (p.Thr641Ile) rs867428284
NM_004260.4(RECQL4):c.1924G>A (p.Ala642Thr) rs2130692174
NM_004260.4(RECQL4):c.1924GCCACA[1] (p.642AT[1]) rs781471399
NM_004260.4(RECQL4):c.1924GCCACA[3] (p.642AT[3]) rs781471399
NM_004260.4(RECQL4):c.1928C>T (p.Thr643Ile) rs1285078612
NM_004260.4(RECQL4):c.1931C>A (p.Ala644Asp)
NM_004260.4(RECQL4):c.1933A>T (p.Thr645Ser) rs1302391250
NM_004260.4(RECQL4):c.1934C>G (p.Thr645Arg) rs1827786205
NM_004260.4(RECQL4):c.1934C>T (p.Thr645Ile)
NM_004260.4(RECQL4):c.1936C>A (p.Arg646Ser) rs398124116
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.4(RECQL4):c.193C>A (p.Leu65Ile)
NM_004260.4(RECQL4):c.193C>T (p.Leu65Phe) rs1564811672
NM_004260.4(RECQL4):c.1940G>A (p.Arg647His) rs372664774
NM_004260.4(RECQL4):c.1940G>C (p.Arg647Pro)
NM_004260.4(RECQL4):c.1943C>T (p.Thr648Ile) rs2130691808
NM_004260.4(RECQL4):c.1949G>C (p.Ser650Thr)
NM_004260.4(RECQL4):c.1951G>A (p.Asp651Asn)
NM_004260.4(RECQL4):c.1955T>G (p.Val652Gly) rs1167635927
NM_004260.4(RECQL4):c.1957G>A (p.Ala653Thr) rs1339042314
NM_004260.4(RECQL4):c.1958C>G (p.Ala653Gly) rs1478522762
NM_004260.4(RECQL4):c.1958C>T (p.Ala653Val) rs1478522762
NM_004260.4(RECQL4):c.1964A>C (p.His655Pro) rs2130691445
NM_004260.4(RECQL4):c.1965C>G (p.His655Gln)
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser) rs993147176
NM_004260.4(RECQL4):c.1969_2017delinsC (p.Ala657_Asn673delinsHis) rs1827771929
NM_004260.4(RECQL4):c.1976C>T (p.Ala659Val) rs1336325647
NM_004260.4(RECQL4):c.1978G>C (p.Glu660Gln)
NM_004260.4(RECQL4):c.1979A>T (p.Glu660Val)
NM_004260.4(RECQL4):c.197C>G (p.Pro66Arg)
NM_004260.4(RECQL4):c.1981G>C (p.Glu661Gln) rs775332504
NM_004260.4(RECQL4):c.1984C>G (p.Pro662Ala) rs1827777139
NM_004260.4(RECQL4):c.1984C>T (p.Pro662Ser) rs1827777139
NM_004260.4(RECQL4):c.1985C>A (p.Pro662His) rs1586808386
NM_004260.4(RECQL4):c.1985C>T (p.Pro662Leu) rs1586808386
NM_004260.4(RECQL4):c.1990C>T (p.Leu664Phe)
NM_004260.4(RECQL4):c.1994A>C (p.His665Pro)
NM_004260.4(RECQL4):c.1994A>G (p.His665Arg) rs1554899274
NM_004260.4(RECQL4):c.1995C>G (p.His665Gln) rs759235313
NM_004260.4(RECQL4):c.1996G>C (p.Gly666Arg)
NM_004260.4(RECQL4):c.1999C>T (p.Pro667Ser)
NM_004260.4(RECQL4):c.199G>A (p.Ala67Thr) rs1815343882
NM_004260.4(RECQL4):c.199G>T (p.Ala67Ser) rs1815343882
NM_004260.4(RECQL4):c.1A>C (p.Met1Leu) rs964623569
NM_004260.4(RECQL4):c.2000C>T (p.Pro667Leu) rs1420577458
NM_004260.4(RECQL4):c.2002G>A (p.Ala668Thr)
NM_004260.4(RECQL4):c.2003C>A (p.Ala668Asp) rs865819673
NM_004260.4(RECQL4):c.2005C>T (p.Pro669Ser) rs888214723
NM_004260.4(RECQL4):c.2006C>G (p.Pro669Arg)
NM_004260.4(RECQL4):c.2008G>T (p.Val670Phe) rs1484366007
NM_004260.4(RECQL4):c.200C>T (p.Ala67Val)
NM_004260.4(RECQL4):c.2011C>A (p.Pro671Thr)
NM_004260.4(RECQL4):c.2011C>G (p.Pro671Ala) rs1256215770
NM_004260.4(RECQL4):c.2011C>T (p.Pro671Ser) rs1256215770
NM_004260.4(RECQL4):c.2012C>G (p.Pro671Arg) rs889029109
NM_004260.4(RECQL4):c.2012CCA[1] (p.Thr672del) rs1827771729
NM_004260.4(RECQL4):c.2015C>T (p.Thr672Ile) rs772696526
NM_004260.4(RECQL4):c.2017A>T (p.Asn673Tyr)
NM_004260.4(RECQL4):c.2023C>T (p.His675Tyr) rs1564797690
NM_004260.4(RECQL4):c.2025C>A (p.His675Gln) rs779458343
NM_004260.4(RECQL4):c.2027T>C (p.Leu676Pro) rs2130690448
NM_004260.4(RECQL4):c.202G>A (p.Ala68Thr) rs1222240717
NM_004260.4(RECQL4):c.2030C>T (p.Ser677Phe)
NM_004260.4(RECQL4):c.2032G>C (p.Val678Leu) rs780282337
NM_004260.4(RECQL4):c.2035T>C (p.Ser679Pro)
NM_004260.4(RECQL4):c.203C>T (p.Ala68Val) rs2130740261
NM_004260.4(RECQL4):c.2040G>A (p.Met680Ile) rs1474548278
NM_004260.4(RECQL4):c.2041G>C (p.Asp681His) rs1586807847
NM_004260.4(RECQL4):c.2041G>T (p.Asp681Tyr) rs1586807847
NM_004260.4(RECQL4):c.2044A>G (p.Arg682Gly) rs1455596790
NM_004260.4(RECQL4):c.2045G>A (p.Arg682Lys)
NM_004260.4(RECQL4):c.2048A>G (p.Asp683Gly) rs1827765739
NM_004260.4(RECQL4):c.204G>A (p.Ala68=) rs904506458
NM_004260.4(RECQL4):c.2050A>C (p.Thr684Pro) rs1483958590
NM_004260.4(RECQL4):c.2050A>G (p.Thr684Ala) rs1483958590
NM_004260.4(RECQL4):c.2053G>C (p.Asp685His)
NM_004260.4(RECQL4):c.2055C>G (p.Asp685Glu)
NM_004260.4(RECQL4):c.2057A>C (p.Gln686Pro)
NM_004260.4(RECQL4):c.2058+17T>G
NM_004260.4(RECQL4):c.2058+3G>A rs1554899156
NM_004260.4(RECQL4):c.2058+4G>C
NM_004260.4(RECQL4):c.2058+5G>C rs1041802349
NM_004260.4(RECQL4):c.2058G>C (p.Gln686His)
NM_004260.4(RECQL4):c.2059-10_2069dup rs1554898831
NM_004260.4(RECQL4):c.2059-3C>T
NM_004260.4(RECQL4):c.2059-9C>A
NM_004260.4(RECQL4):c.205G>A (p.Ala69Thr) rs2130740225
NM_004260.4(RECQL4):c.2060C>G (p.Ala687Gly) rs1204590426
NM_004260.4(RECQL4):c.2062C>T (p.Leu688=)
NM_004260.4(RECQL4):c.2063T>C (p.Leu688Pro) rs1315661208
NM_004260.4(RECQL4):c.2063T>G (p.Leu688Arg)
NM_004260.4(RECQL4):c.2068A>T (p.Thr690Ser) rs1246782381
NM_004260.4(RECQL4):c.206C>A (p.Ala69Asp) rs768035751
NM_004260.4(RECQL4):c.206C>G (p.Ala69Gly) rs768035751
NM_004260.4(RECQL4):c.206C>T (p.Ala69Val) rs768035751
NM_004260.4(RECQL4):c.2071C>G (p.Leu691Val) rs1330868114
NM_004260.4(RECQL4):c.2073G>T (p.Leu691=)
NM_004260.4(RECQL4):c.2075T>G (p.Leu692Arg)
NM_004260.4(RECQL4):c.2078A>C (p.Gln693Pro)
NM_004260.4(RECQL4):c.2078A>G (p.Gln693Arg)
NM_004260.4(RECQL4):c.2079A>G (p.Gln693=)
NM_004260.4(RECQL4):c.2080G>A (p.Gly694Ser) rs750118023
NM_004260.4(RECQL4):c.2081G>A (p.Gly694Asp) rs887964523
NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys) rs531970883
NM_004260.4(RECQL4):c.2087G>C (p.Arg696Pro) rs1026729951
NM_004260.4(RECQL4):c.2087G>T (p.Arg696Leu)
NM_004260.4(RECQL4):c.208G>A (p.Glu70Lys) rs1404280214
NM_004260.4(RECQL4):c.2091T>A (p.Phe697Leu)
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.4(RECQL4):c.2093A>G (p.Gln698Arg) rs1827683274
NM_004260.4(RECQL4):c.2096A>C (p.Asn699Thr) rs1827683037
NM_004260.4(RECQL4):c.2097C>G (p.Asn699Lys) rs896790337
NM_004260.4(RECQL4):c.2098C>T (p.Leu700Phe) rs1586805351
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.2102A>G (p.Asp701Gly) rs2130684119
NM_004260.4(RECQL4):c.2104T>A (p.Ser702Thr) rs1827681779
NM_004260.4(RECQL4):c.2105C>G (p.Ser702Cys) rs1320752740
NM_004260.4(RECQL4):c.2108T>A (p.Ile703Asn) rs2130684034
NM_004260.4(RECQL4):c.2109T>G (p.Ile703Met) rs759753484
NM_004260.4(RECQL4):c.2112_2114del (p.Ile705del) rs770270259
NM_004260.4(RECQL4):c.2113A>C (p.Ile705Leu) rs374262706
NM_004260.4(RECQL4):c.2116T>A (p.Tyr706Asn) rs1827677165
NM_004260.4(RECQL4):c.2122A>G (p.Asn708Asp) rs2130683818
NM_004260.4(RECQL4):c.2123A>G (p.Asn708Ser) rs1564796315
NM_004260.4(RECQL4):c.2123A>T (p.Asn708Ile) rs1564796315
NM_004260.4(RECQL4):c.2124C>A (p.Asn708Lys) rs749266091
NM_004260.4(RECQL4):c.2124C>G (p.Asn708Lys) rs749266091
NM_004260.4(RECQL4):c.2125C>G (p.Arg709Gly) rs199562131
NM_004260.4(RECQL4):c.2127_2128delinsCT (p.Arg710Cys)
NM_004260.4(RECQL4):c.2128_2145dup (p.Arg715_Ile716insArgGluAspThrGluArg)
NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.4(RECQL4):c.213+13C>A
NM_004260.4(RECQL4):c.213+17G>T
NM_004260.4(RECQL4):c.213+20C>G
NM_004260.4(RECQL4):c.213+4C>A
NM_004260.4(RECQL4):c.213+6C>T rs1554904641
NM_004260.4(RECQL4):c.2136C>G (p.Asp712Glu) rs377493345
NM_004260.4(RECQL4):c.2137A>C (p.Thr713Pro) rs760077772
NM_004260.4(RECQL4):c.2137A>G (p.Thr713Ala)
NM_004260.4(RECQL4):c.213G>A (p.Glu71=) rs1564811591
NM_004260.4(RECQL4):c.213G>C (p.Glu71Asp) rs1564811591
NM_004260.4(RECQL4):c.213_213+2dup rs1815339349
NM_004260.4(RECQL4):c.214-16_214-15del
NM_004260.4(RECQL4):c.214-19C>T
NM_004260.4(RECQL4):c.214-3C>T rs367849648
NM_004260.4(RECQL4):c.2140G>A (p.Glu714Lys) rs776931639
NM_004260.4(RECQL4):c.2143C>G (p.Arg715Gly) rs373292946
NM_004260.4(RECQL4):c.2146A>C (p.Ile716Leu) rs1331893787
NM_004260.4(RECQL4):c.2146A>G (p.Ile716Val) rs1331893787
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2149G>C (p.Ala717Pro) rs970075256
NM_004260.4(RECQL4):c.214G>A (p.Ala72Thr)
NM_004260.4(RECQL4):c.214G>C (p.Ala72Pro)
NM_004260.4(RECQL4):c.214G>T (p.Ala72Ser) rs1815258229
NM_004260.4(RECQL4):c.2150C>T (p.Ala717Val) rs775509164
NM_004260.4(RECQL4):c.2152G>A (p.Ala718Thr) rs1586804739
NM_004260.4(RECQL4):c.2156T>A (p.Leu719His) rs1827665831
NM_004260.4(RECQL4):c.2161C>A (p.Arg721=) rs746691436
NM_004260.4(RECQL4):c.2161C>G (p.Arg721Gly) rs746691436
NM_004260.4(RECQL4):c.2162G>C (p.Arg721Pro)
NM_004260.4(RECQL4):c.2164A>G (p.Thr722Ala)
NM_004260.4(RECQL4):c.2165C>G (p.Thr722Ser) rs985482776
NM_004260.4(RECQL4):c.2165C>T (p.Thr722Ile)
NM_004260.4(RECQL4):c.2168G>A (p.Cys723Tyr)
NM_004260.4(RECQL4):c.2173C>T (p.His725Tyr) rs1827661449
NM_004260.4(RECQL4):c.2177C>T (p.Ala726Val) rs2130682790
NM_004260.4(RECQL4):c.2179G>A (p.Ala727Thr) rs773424301
NM_004260.4(RECQL4):c.2179G>T (p.Ala727Ser) rs773424301
NM_004260.4(RECQL4):c.217C>G (p.Pro73Ala)
NM_004260.4(RECQL4):c.2180C>T (p.Ala727Val) rs1827659174
NM_004260.4(RECQL4):c.2185G>C (p.Val729Leu) rs376141829
NM_004260.4(RECQL4):c.2188C>T (p.Pro730Ser) rs1209776908
NM_004260.4(RECQL4):c.2189C>T (p.Pro730Leu) rs1554898674
NM_004260.4(RECQL4):c.218C>G (p.Pro73Arg) rs1815256853
NM_004260.4(RECQL4):c.218C>T (p.Pro73Leu)
NM_004260.4(RECQL4):c.2192G>A (p.Gly731Glu) rs762080821
NM_004260.4(RECQL4):c.2192G>C (p.Gly731Ala) rs762080821
NM_004260.4(RECQL4):c.2193G>T (p.Gly731=)
NM_004260.4(RECQL4):c.2194T>C (p.Ser732Pro) rs2130682486
NM_004260.4(RECQL4):c.2195C>G (p.Ser732Cys) rs1060501366
NM_004260.4(RECQL4):c.2195C>T (p.Ser732Phe) rs1060501366
NM_004260.4(RECQL4):c.2198G>C (p.Gly733Ala) rs1060501359
NM_004260.4(RECQL4):c.2200+4C>A rs776670526
NM_004260.4(RECQL4):c.2200+6G>C rs2130682284
NM_004260.4(RECQL4):c.2200+6G>T rs2130682284
NM_004260.4(RECQL4):c.2200+7C>T rs2130682268
NM_004260.4(RECQL4):c.2200G>A (p.Gly734Ser)
NM_004260.4(RECQL4):c.2201-3A>G rs1554898541
NM_004260.4(RECQL4):c.2201-7C>G rs751734833
NM_004260.4(RECQL4):c.2201G>A (p.Gly734Asp)
NM_004260.4(RECQL4):c.2203_2205del (p.Arg735del) rs1827640804
NM_004260.4(RECQL4):c.2204G>C (p.Arg735Pro) rs773155492
NM_004260.4(RECQL4):c.2204G>T (p.Arg735Leu) rs773155492
NM_004260.4(RECQL4):c.2206G>A (p.Ala736Thr) rs864309583
NM_004260.4(RECQL4):c.2207C>T (p.Ala736Val) rs771790911
NM_004260.4(RECQL4):c.2210C>A (p.Pro737His)
NM_004260.4(RECQL4):c.2210C>G (p.Pro737Arg)
NM_004260.4(RECQL4):c.2218A>G (p.Thr740Ala) rs1586803619
NM_004260.4(RECQL4):c.221_283del (p.Glu74_Pro94del) rs2130735614
NM_004260.4(RECQL4):c.2221G>A (p.Ala741Thr) rs748933048
NM_004260.4(RECQL4):c.2221G>C (p.Ala741Pro)
NM_004260.4(RECQL4):c.2228C>A (p.Ala743Asp) rs781675349
NM_004260.4(RECQL4):c.2228C>G (p.Ala743Gly) rs781675349
NM_004260.4(RECQL4):c.2228C>T (p.Ala743Val)
NM_004260.4(RECQL4):c.222G>C (p.Glu74Asp)
NM_004260.4(RECQL4):c.2231A>G (p.Tyr744Cys) rs757576880
NM_004260.4(RECQL4):c.2235C>A (p.His745Gln)
NM_004260.4(RECQL4):c.2237C>A (p.Ala746Glu) rs201883228
NM_004260.4(RECQL4):c.2237C>G (p.Ala746Gly) rs201883228
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2241C>T (p.Gly747=) rs957407351
NM_004260.4(RECQL4):c.2242A>C (p.Met748Leu)
NM_004260.4(RECQL4):c.2243T>C (p.Met748Thr) rs2130680231
NM_004260.4(RECQL4):c.2245T>C (p.Cys749Arg) rs1564795333
NM_004260.4(RECQL4):c.2246G>A (p.Cys749Tyr) rs1586803374
NM_004260.4(RECQL4):c.2247C>T (p.Cys749=)
NM_004260.4(RECQL4):c.2249G>A (p.Ser750Asn)
NM_004260.4(RECQL4):c.2249G>T (p.Ser750Ile)
NM_004260.4(RECQL4):c.224C>T (p.Pro75Leu) rs943035311
NM_004260.4(RECQL4):c.2250C>G (p.Ser750Arg) rs761639839
NM_004260.4(RECQL4):c.2254G>A (p.Glu752Lys) rs1586803311
NM_004260.4(RECQL4):c.2257CGG[2] (p.Arg755del) rs751765974
NM_004260.4(RECQL4):c.2263C>T (p.Arg755Trp) rs1269867447
NM_004260.4(RECQL4):c.2266G>A (p.Val756Ile) rs1319987748
NM_004260.4(RECQL4):c.2266G>T (p.Val756Leu)
NM_004260.4(RECQL4):c.226C>A (p.Arg76Ser)
NM_004260.4(RECQL4):c.226C>T (p.Arg76Cys) rs1815254850
NM_004260.4(RECQL4):c.2270A>G (p.Gln757Arg) rs1827629600
NM_004260.4(RECQL4):c.2272C>G (p.Arg758Gly) rs758790200
NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro) rs748416710
NM_004260.4(RECQL4):c.2276C>A (p.Ala759Asp)
NM_004260.4(RECQL4):c.2276C>T (p.Ala759Val) rs1586803103
NM_004260.4(RECQL4):c.2282T>C (p.Met761Thr) rs1586803043
NM_004260.4(RECQL4):c.2287G>A (p.Gly763Ser)
NM_004260.4(RECQL4):c.2287G>C (p.Gly763Arg)
NM_004260.4(RECQL4):c.2293T>G (p.Leu765Val)
NM_004260.4(RECQL4):c.229T>G (p.Cys77Gly) rs2130736466
NM_004260.4(RECQL4):c.22C>G (p.Arg8Gly) rs1554905170
NM_004260.4(RECQL4):c.22C>T (p.Arg8Trp) rs1554905170
NM_004260.4(RECQL4):c.2302G>C (p.Val768Leu) rs1827623151
NM_004260.4(RECQL4):c.2303T>G (p.Val768Gly) rs370863264
NM_004260.4(RECQL4):c.2306T>C (p.Val769Ala) rs1827622405
NM_004260.4(RECQL4):c.2309C>T (p.Ala770Val)
NM_004260.4(RECQL4):c.230G>T (p.Cys77Phe) rs373705170
NM_004260.4(RECQL4):c.2312C>A (p.Thr771Lys) rs770327474
NM_004260.4(RECQL4):c.2315T>C (p.Val772Ala) rs773819025
NM_004260.4(RECQL4):c.2317G>A (p.Ala773Thr) rs1385567680
NM_004260.4(RECQL4):c.2317G>C (p.Ala773Pro)
NM_004260.4(RECQL4):c.2317_2318delinsTT (p.Ala773Phe) rs1564794977
NM_004260.4(RECQL4):c.2318C>T (p.Ala773Val) rs772573389
NM_004260.4(RECQL4):c.231C>T (p.Cys77=)
NM_004260.4(RECQL4):c.2323G>A (p.Gly775Arg) rs2130678662
NM_004260.4(RECQL4):c.2324G>T (p.Gly775Val)
NM_004260.4(RECQL4):c.2326A>G (p.Met776Val) rs1406170971
NM_004260.4(RECQL4):c.2326_2334del (p.Met776_Leu778del)
NM_004260.4(RECQL4):c.2327T>C (p.Met776Thr) rs1554898312
NM_004260.4(RECQL4):c.2329G>A (p.Gly777Arg) rs377173936
NM_004260.4(RECQL4):c.2329G>C (p.Gly777Arg)
NM_004260.4(RECQL4):c.232T>G (p.Trp78Gly) rs768539707
NM_004260.4(RECQL4):c.2330G>A (p.Gly777Glu) rs768986171
NM_004260.4(RECQL4):c.2330G>C (p.Gly777Ala) rs768986171
NM_004260.4(RECQL4):c.2335G>T (p.Asp779Tyr) rs780228802
NM_004260.4(RECQL4):c.2336A>G (p.Asp779Gly) rs2130678409
NM_004260.4(RECQL4):c.2338C>G (p.Arg780Gly) rs372741479
NM_004260.4(RECQL4):c.2339G>A (p.Arg780Gln) rs369488194
NM_004260.4(RECQL4):c.2339G>T (p.Arg780Leu) rs369488194
NM_004260.4(RECQL4):c.2340G>A (p.Arg780=)
NM_004260.4(RECQL4):c.2341C>G (p.Pro781Ala)
NM_004260.4(RECQL4):c.2341C>T (p.Pro781Ser) rs1490845255
NM_004260.4(RECQL4):c.2342C>G (p.Pro781Arg)
NM_004260.4(RECQL4):c.2348T>C (p.Val783Ala) rs764988329
NM_004260.4(RECQL4):c.2350C>G (p.Arg784Gly)
NM_004260.4(RECQL4):c.2351G>C (p.Arg784Pro) rs536096413
NM_004260.4(RECQL4):c.2353G>A (p.Ala785Thr) rs1060501362
NM_004260.4(RECQL4):c.2354C>A (p.Ala785Asp)
NM_004260.4(RECQL4):c.2354C>T (p.Ala785Val) rs1827614027
NM_004260.4(RECQL4):c.2357T>G (p.Val786Gly) rs990445273
NM_004260.4(RECQL4):c.2358_2359insACA (p.Val786_Leu787insThr)
NM_004260.4(RECQL4):c.2359C>G (p.Leu787Val) rs1827613025
NM_004260.4(RECQL4):c.235G>A (p.Gly79Arg)
NM_004260.4(RECQL4):c.2360T>C (p.Leu787Pro) rs760041795
NM_004260.4(RECQL4):c.2360T>G (p.Leu787Arg)
NM_004260.4(RECQL4):c.2362C>A (p.His788Asn) rs773864273
NM_004260.4(RECQL4):c.2362C>T (p.His788Tyr) rs773864273
NM_004260.4(RECQL4):c.2364T>G (p.His788Gln) rs1410031368
NM_004260.4(RECQL4):c.2365C>G (p.Leu789Val) rs2130677910
NM_004260.4(RECQL4):c.2368G>A (p.Gly790Arg)
NM_004260.4(RECQL4):c.2369G>A (p.Gly790Glu)
NM_004260.4(RECQL4):c.236G>T (p.Gly79Val) rs1173220801
NM_004260.4(RECQL4):c.2371C>A (p.Leu791Met) rs1240837003
NM_004260.4(RECQL4):c.2372T>C (p.Leu791Pro) rs774894142
NM_004260.4(RECQL4):c.2374C>T (p.Pro792Ser)
NM_004260.4(RECQL4):c.2378C>G (p.Pro793Arg)
NM_004260.4(RECQL4):c.2384T>C (p.Phe795Ser) rs1827608208
NM_004260.4(RECQL4):c.2385C>A (p.Phe795Leu) rs587778644
NM_004260.4(RECQL4):c.2385C>G (p.Phe795Leu) rs587778644
NM_004260.4(RECQL4):c.2388G>C (p.Glu796Asp)
NM_004260.4(RECQL4):c.238C>T (p.Pro80Ser) rs1815251986
NM_004260.4(RECQL4):c.2392T>C (p.Tyr798His)
NM_004260.4(RECQL4):c.2395G>C (p.Val799Leu)
NM_004260.4(RECQL4):c.2398C>G (p.Gln800Glu) rs1206089987
NM_004260.4(RECQL4):c.23G>A (p.Arg8Gln) rs896245546
NM_004260.4(RECQL4):c.2401G>A (p.Ala801Thr) rs994146252
NM_004260.4(RECQL4):c.2401G>C (p.Ala801Pro) rs994146252
NM_004260.4(RECQL4):c.2408G>A (p.Gly803Asp)
NM_004260.4(RECQL4):c.2414C>A (p.Ala805Asp) rs765894032
NM_004260.4(RECQL4):c.2417G>C (p.Gly806Ala) rs762456224
NM_004260.4(RECQL4):c.2418_2419delinsAG (p.Arg807Gly) rs1827602475
NM_004260.4(RECQL4):c.241C>A (p.His81Asn)
NM_004260.4(RECQL4):c.241C>T (p.His81Tyr)
NM_004260.4(RECQL4):c.2420G>C (p.Arg807Pro) rs571684398
NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn) rs1423500226
NM_004260.4(RECQL4):c.2429_2431del (p.Gln810del) rs2130676571
NM_004260.4(RECQL4):c.242A>G (p.His81Arg) rs1478497967
NM_004260.4(RECQL4):c.243T>G (p.His81Gln) rs1423806349
NM_004260.4(RECQL4):c.2441G>A (p.Cys814Tyr) rs1827598421
NM_004260.4(RECQL4):c.2443C>T (p.His815Tyr) rs1060501371
NM_004260.4(RECQL4):c.2449T>A (p.Phe817Ile) rs1364205283
NM_004260.4(RECQL4):c.244C>G (p.Leu82Val) rs749101720
NM_004260.4(RECQL4):c.244C>T (p.Leu82=)
NM_004260.4(RECQL4):c.2451C>A (p.Phe817Leu) rs778652987
NM_004260.4(RECQL4):c.2453T>C (p.Leu818Pro)
NM_004260.4(RECQL4):c.2455C>G (p.Gln819Glu) rs2130676259
NM_004260.4(RECQL4):c.2456A>C (p.Gln819Pro) rs1467362119
NM_004260.4(RECQL4):c.2458C>G (p.Pro820Ala) rs1827596130
NM_004260.4(RECQL4):c.2458_2463del (p.Pro820_Gln821del) rs1247860633
NM_004260.4(RECQL4):c.2459C>T (p.Pro820Leu) rs749090018
NM_004260.4(RECQL4):c.2463+5G>A rs1264630646
NM_004260.4(RECQL4):c.2463G>C (p.Gln821His)
NM_004260.4(RECQL4):c.2464G>A (p.Gly822Ser)
NM_004260.4(RECQL4):c.2465G>A (p.Gly822Asp)
NM_004260.4(RECQL4):c.2465G>C (p.Gly822Ala)
NM_004260.4(RECQL4):c.2468A>G (p.Glu823Gly) rs2130674107
NM_004260.4(RECQL4):c.2470G>A (p.Asp824Asn) rs901313954
NM_004260.4(RECQL4):c.2471A>T (p.Asp824Val)
NM_004260.4(RECQL4):c.2472_2480del (p.Asp824_Arg826del) rs2130673898
NM_004260.4(RECQL4):c.2474T>C (p.Leu825Pro) rs1286406860
NM_004260.4(RECQL4):c.2474_2476del (p.Leu825del) rs2130673988
NM_004260.4(RECQL4):c.2475G>A (p.Leu825=)
NM_004260.4(RECQL4):c.2475G>C (p.Leu825=)
NM_004260.4(RECQL4):c.2476C>G (p.Arg826Gly) rs386833851
NM_004260.4(RECQL4):c.2477G>C (p.Arg826Pro) rs770800467
NM_004260.4(RECQL4):c.2477G>T (p.Arg826Leu) rs770800467
NM_004260.4(RECQL4):c.2479G>C (p.Glu827Gln)
NM_004260.4(RECQL4):c.2480A>G (p.Glu827Gly) rs1827567523
NM_004260.4(RECQL4):c.2483T>A (p.Leu828Gln) rs891542221
NM_004260.4(RECQL4):c.2483T>C (p.Leu828Pro)
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.2489G>C (p.Arg830Thr) rs747748330
NM_004260.4(RECQL4):c.2492A>C (p.His831Pro) rs754324912
NM_004260.4(RECQL4):c.2497C>G (p.His833Asp) rs2130673512
NM_004260.4(RECQL4):c.2497C>T (p.His833Tyr)
NM_004260.4(RECQL4):c.2498A>G (p.His833Arg)
NM_004260.4(RECQL4):c.2499C>G (p.His833Gln)
NM_004260.4(RECQL4):c.2504A>C (p.Asp835Ala)
NM_004260.4(RECQL4):c.2507G>A (p.Ser836Asn) rs1827562066
NM_004260.4(RECQL4):c.2513A>G (p.Asp838Gly) rs1317677692
NM_004260.4(RECQL4):c.2515T>C (p.Phe839Leu) rs1827560416
NM_004260.4(RECQL4):c.2516T>C (p.Phe839Ser)
NM_004260.4(RECQL4):c.2517C>G (p.Phe839Leu)
NM_004260.4(RECQL4):c.2518C>G (p.Leu840Val) rs201106179
NM_004260.4(RECQL4):c.2519T>A (p.Leu840Gln) rs773904395
NM_004260.4(RECQL4):c.251G>A (p.Arg84Gln) rs745596664
NM_004260.4(RECQL4):c.2521G>A (p.Ala841Thr)
NM_004260.4(RECQL4):c.2521G>C (p.Ala841Pro)
NM_004260.4(RECQL4):c.2521G>T (p.Ala841Ser)
NM_004260.4(RECQL4):c.2529G>T (p.Lys843Asn) rs1554897835
NM_004260.4(RECQL4):c.2532_2533delinsTT (p.Arg844Ser) rs2130672839
NM_004260.4(RECQL4):c.2536G>A (p.Val846Ile)
NM_004260.4(RECQL4):c.2537T>C (p.Val846Ala) rs756449897
NM_004260.4(RECQL4):c.2542C>G (p.Arg848Gly) rs757540549
NM_004260.4(RECQL4):c.2545G>C (p.Val849Leu) rs201661055
NM_004260.4(RECQL4):c.2545G>T (p.Val849Leu) rs201661055
NM_004260.4(RECQL4):c.2549T>C (p.Phe850Ser) rs2130672533
NM_004260.4(RECQL4):c.254C>G (p.Ala85Gly) rs756838362
NM_004260.4(RECQL4):c.254C>T (p.Ala85Val) rs756838362
NM_004260.4(RECQL4):c.2550C>A (p.Phe850Leu) rs1363197248
NM_004260.4(RECQL4):c.2550C>G (p.Phe850Leu) rs1363197248
NM_004260.4(RECQL4):c.2554G>A (p.Ala852Thr)
NM_004260.4(RECQL4):c.2557TGCACC[5] (p.853CT[5]) rs548804317
NM_004260.4(RECQL4):c.2560_2561insACTGCA (p.Cys853_Thr854insAsnCys) rs2130672276
NM_004260.4(RECQL4):c.2561C>G (p.Thr854Ser)
NM_004260.4(RECQL4):c.2561C>T (p.Thr854Ile) rs1167531855
NM_004260.4(RECQL4):c.2563T>A (p.Cys855Ser)
NM_004260.4(RECQL4):c.2564G>C (p.Cys855Ser)
NM_004260.4(RECQL4):c.2567C>T (p.Thr856Ile) rs1827549635
NM_004260.4(RECQL4):c.2568C>G (p.Thr856=)
NM_004260.4(RECQL4):c.2569T>G (p.Cys857Gly)
NM_004260.4(RECQL4):c.256G>A (p.Ala86Thr) rs2130736069
NM_004260.4(RECQL4):c.2571_2576del (p.Cys857_Arg859delinsTrp)
NM_004260.4(RECQL4):c.2572A>G (p.Thr858Ala) rs1586799711
NM_004260.4(RECQL4):c.2573C>G (p.Thr858Ser) rs965539808
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
NM_004260.4(RECQL4):c.2576G>C (p.Arg859Thr)
NM_004260.4(RECQL4):c.2579C>G (p.Pro860Arg) rs774850992
NM_004260.4(RECQL4):c.257C>G (p.Ala86Gly) rs1207989827
NM_004260.4(RECQL4):c.257C>T (p.Ala86Val)
NM_004260.4(RECQL4):c.2584T>A (p.Ser862Thr)
NM_004260.4(RECQL4):c.2590C>A (p.Gln864Lys) rs1054186954
NM_004260.4(RECQL4):c.2594A>C (p.Glu865Ala)
NM_004260.4(RECQL4):c.2594A>G (p.Glu865Gly) rs1827541741
NM_004260.4(RECQL4):c.2594A>T (p.Glu865Val)
NM_004260.4(RECQL4):c.2597G>A (p.Gly866Glu) rs1827541354
NM_004260.4(RECQL4):c.2598G>A (p.Gly866=)
NM_004260.4(RECQL4):c.2599G>A (p.Ala867Thr) rs1000281324
NM_004260.4(RECQL4):c.2600C>T (p.Ala867Val) rs2130671496
NM_004260.4(RECQL4):c.2603T>C (p.Val868Ala)
NM_004260.4(RECQL4):c.2609G>C (p.Gly870Ala) rs1827539195
NM_004260.4(RECQL4):c.2613G>C (p.Glu871Asp)
NM_004260.4(RECQL4):c.2615G>A (p.Arg872Lys) rs1827538570
NM_004260.4(RECQL4):c.2620G>A (p.Val874Met) rs1554897651
NM_004260.4(RECQL4):c.2620G>C (p.Val874Leu) rs1554897651
NM_004260.4(RECQL4):c.2623C>T (p.Pro875Ser)
NM_004260.4(RECQL4):c.2627A>G (p.Lys876Arg) rs2130671089
NM_004260.4(RECQL4):c.2628G>C (p.Lys876Asn) rs1195462139
NM_004260.4(RECQL4):c.262A>G (p.Lys88Glu)
NM_004260.4(RECQL4):c.2632C>A (p.Pro878Thr)
NM_004260.4(RECQL4):c.2636C>G (p.Pro879Arg)
NM_004260.4(RECQL4):c.2636C>T (p.Pro879Leu) rs137975310
NM_004260.4(RECQL4):c.2636_2638del (p.Pro879del)
NM_004260.4(RECQL4):c.2638C>A (p.Gln880Lys)
NM_004260.4(RECQL4):c.263A>G (p.Lys88Arg)
NM_004260.4(RECQL4):c.2641G>A (p.Glu881Lys) rs2130670791
NM_004260.4(RECQL4):c.2644G>A (p.Ala882Thr) rs771434161
NM_004260.4(RECQL4):c.2644G>T (p.Ala882Ser) rs771434161
NM_004260.4(RECQL4):c.2645C>T (p.Ala882Val)
NM_004260.4(RECQL4):c.2647G>C (p.Glu883Gln)
NM_004260.4(RECQL4):c.2648A>G (p.Glu883Gly) rs1305824852
NM_004260.4(RECQL4):c.2650C>G (p.Gln884Glu)
NM_004260.4(RECQL4):c.2654T>G (p.Leu885Arg)
NM_004260.4(RECQL4):c.2657G>A (p.Ser886Asn)
NM_004260.4(RECQL4):c.2661C>A (p.His887Gln) rs2130670528
NM_004260.4(RECQL4):c.2662C>G (p.Gln888Glu) rs1406641581
NM_004260.4(RECQL4):c.2663A>G (p.Gln888Arg) rs1564792721
NM_004260.4(RECQL4):c.2664A>C (p.Gln888His) rs779076624
NM_004260.4(RECQL4):c.2668G>T (p.Ala890Ser)
NM_004260.4(RECQL4):c.2669C>T (p.Ala890Val) rs1827530347
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn) rs372648595
NM_004260.4(RECQL4):c.266G>C (p.Ser89Thr) rs372648595
NM_004260.4(RECQL4):c.2671C>A (p.Pro891Thr) rs757175211
NM_004260.4(RECQL4):c.2671C>G (p.Pro891Ala) rs757175211
NM_004260.4(RECQL4):c.2672C>T (p.Pro891Leu) rs2130670349
NM_004260.4(RECQL4):c.2675G>A (p.Gly892Glu) rs1461172672
NM_004260.4(RECQL4):c.2677C>G (p.Pro893Ala) rs1264247879
NM_004260.4(RECQL4):c.2681G>A (p.Arg894Lys)
NM_004260.4(RECQL4):c.2681G>T (p.Arg894Ile)
NM_004260.4(RECQL4):c.2684G>C (p.Arg895Thr)
NM_004260.4(RECQL4):c.2685G>C (p.Arg895Ser) rs1259701902
NM_004260.4(RECQL4):c.2686G>A (p.Val896Ile) rs762644049
NM_004260.4(RECQL4):c.2690G>A (p.Cys897Tyr)
NM_004260.4(RECQL4):c.2693T>A (p.Met898Lys)
NM_004260.4(RECQL4):c.2695G>A (p.Gly899Ser)
NM_004260.4(RECQL4):c.2696G>A (p.Gly899Asp) rs1827524891
NM_004260.4(RECQL4):c.2698C>A (p.His900Asn)
NM_004260.4(RECQL4):c.2698C>T (p.His900Tyr)
NM_004260.4(RECQL4):c.2699A>T (p.His900Leu)
NM_004260.4(RECQL4):c.269C>T (p.Pro90Leu) rs758928559
NM_004260.4(RECQL4):c.2701G>A (p.Glu901Lys)
NM_004260.4(RECQL4):c.2702A>G (p.Glu901Gly) rs1827523235
NM_004260.4(RECQL4):c.2707G>A (p.Ala903Thr) rs1827522325
NM_004260.4(RECQL4):c.2708C>T (p.Ala903Val)
NM_004260.4(RECQL4):c.2710C>G (p.Leu904Val)
NM_004260.4(RECQL4):c.2710C>T (p.Leu904Phe) rs748437594
NM_004260.4(RECQL4):c.2713C>G (p.Pro905Ala)
NM_004260.4(RECQL4):c.2713C>T (p.Pro905Ser) rs778939539
NM_004260.4(RECQL4):c.2714C>T (p.Pro905Leu) rs768797926
NM_004260.4(RECQL4):c.2716A>G (p.Ile906Val) rs1261656954
NM_004260.4(RECQL4):c.2717T>A (p.Ile906Lys)
NM_004260.4(RECQL4):c.2718A>G (p.Ile906Met)
NM_004260.4(RECQL4):c.2720A>G (p.Gln907Arg) rs1827518669
NM_004260.4(RECQL4):c.2722C>G (p.Leu908Val)
NM_004260.4(RECQL4):c.2723T>C (p.Leu908Pro) rs1244850943
NM_004260.4(RECQL4):c.2725A>G (p.Thr909Ala) rs1564792382
NM_004260.4(RECQL4):c.2726C>T (p.Thr909Ile) rs1586798501
NM_004260.4(RECQL4):c.2730_2732del (p.Gln911del)
NM_004260.4(RECQL4):c.2734G>A (p.Ala912Thr)
NM_004260.4(RECQL4):c.2735C>G (p.Ala912Gly) rs752408076
NM_004260.4(RECQL4):c.2740G>A (p.Asp914Asn) rs371327041
NM_004260.4(RECQL4):c.2740G>C (p.Asp914His) rs371327041
NM_004260.4(RECQL4):c.2744T>C (p.Met915Thr) rs1165798216
NM_004260.4(RECQL4):c.2746C>A (p.Pro916Thr)
NM_004260.4(RECQL4):c.2746C>T (p.Pro916Ser) rs1827511034
NM_004260.4(RECQL4):c.2747C>A (p.Pro916Gln)
NM_004260.4(RECQL4):c.274_275delinsCG (p.Ser92Arg)
NM_004260.4(RECQL4):c.2750A>G (p.Glu917Gly)
NM_004260.4(RECQL4):c.2750AGG[1] (p.Glu918del) rs755113079
NM_004260.4(RECQL4):c.2752G>A (p.Glu918Lys) rs762028333
NM_004260.4(RECQL4):c.2755+13G>C
NM_004260.4(RECQL4):c.2755+19G>A
NM_004260.4(RECQL4):c.2755+5G>A rs1280919842
NM_004260.4(RECQL4):c.2755+9C>G
NM_004260.4(RECQL4):c.2756-19_2756-13del
NM_004260.4(RECQL4):c.2756-23_2756-16del
NM_004260.4(RECQL4):c.2756-34_2756-8del
NM_004260.4(RECQL4):c.2756-5C>G rs541518527
NM_004260.4(RECQL4):c.2756-6C>G rs369289550
NM_004260.4(RECQL4):c.2760C>G (p.Ile920Met) rs752058642
NM_004260.4(RECQL4):c.2768T>C (p.Leu923Ser)
NM_004260.4(RECQL4):c.2769G>T (p.Leu923Phe) rs368618566
NM_004260.4(RECQL4):c.2771T>C (p.Leu924Pro) rs1827488371
NM_004260.4(RECQL4):c.2771T>G (p.Leu924Arg) rs1827488371
NM_004260.4(RECQL4):c.2775C>G (p.Cys925Trp) rs376838923
NM_004260.4(RECQL4):c.2776T>A (p.Tyr926Asn)
NM_004260.4(RECQL4):c.2776T>C (p.Tyr926His) rs1060501365
NM_004260.4(RECQL4):c.2777A>G (p.Tyr926Cys) rs1280395082
NM_004260.4(RECQL4):c.2779C>G (p.Leu927Val) rs372304382
NM_004260.4(RECQL4):c.277A>G (p.Thr93Ala) rs1815241311
NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg) rs774274636
NM_004260.4(RECQL4):c.2784G>C (p.Glu928Asp) rs1827486203
NM_004260.4(RECQL4):c.2789A>G (p.His930Arg) rs1586797279
NM_004260.4(RECQL4):c.2789_2812del (p.His930_Leu937del) rs1827481798
NM_004260.4(RECQL4):c.2790C>G (p.His930Gln)
NM_004260.4(RECQL4):c.2791C>A (p.Pro931Thr)
NM_004260.4(RECQL4):c.2791C>G (p.Pro931Ala) rs768352855
NM_004260.4(RECQL4):c.2794C>T (p.His932Tyr) rs1554897279
NM_004260.4(RECQL4):c.2795A>G (p.His932Arg)
NM_004260.4(RECQL4):c.2796C>G (p.His932Gln) rs1827484697
NM_004260.4(RECQL4):c.2798A>G (p.His933Arg) rs1554897277
NM_004260.4(RECQL4):c.2799C>G (p.His933Gln)
NM_004260.4(RECQL4):c.2800T>C (p.Trp934Arg)
NM_004260.4(RECQL4):c.2800T>G (p.Trp934Gly) rs1827484063
NM_004260.4(RECQL4):c.2802G>C (p.Trp934Cys)
NM_004260.4(RECQL4):c.2803C>G (p.Leu935Val) rs745494721
NM_004260.4(RECQL4):c.2808G>C (p.Glu936Asp) rs1442521340
NM_004260.4(RECQL4):c.2809C>G (p.Leu937Val) rs1827482477
NM_004260.4(RECQL4):c.2816C>A (p.Ala939Glu) rs561220929
NM_004260.4(RECQL4):c.281C>T (p.Pro94Leu) rs1586830544
NM_004260.4(RECQL4):c.2822C>T (p.Thr941Ile) rs1060501368
NM_004260.4(RECQL4):c.2824T>C (p.Tyr942His) rs1827479492
NM_004260.4(RECQL4):c.2825A>C (p.Tyr942Ser) rs1586797102
NM_004260.4(RECQL4):c.2825A>G (p.Tyr942Cys)
NM_004260.4(RECQL4):c.2828C>T (p.Thr943Ile) rs1827478545
NM_004260.4(RECQL4):c.2832T>A (p.His944Gln) rs754047453
NM_004260.4(RECQL4):c.2833T>C (p.Cys945Arg)
NM_004260.4(RECQL4):c.2834G>A (p.Cys945Tyr) rs1554897223
NM_004260.4(RECQL4):c.2839C>G (p.Leu947Val)
NM_004260.4(RECQL4):c.283G>C (p.Gly95Arg) rs1564810489
NM_004260.4(RECQL4):c.2846G>T (p.Cys949Phe)
NM_004260.4(RECQL4):c.2849C>T (p.Pro950Leu)
NM_004260.4(RECQL4):c.284G>C (p.Gly95Ala) rs2130735581
NM_004260.4(RECQL4):c.2851G>A (p.Gly951Arg)
NM_004260.4(RECQL4):c.2852G>C (p.Gly951Ala)
NM_004260.4(RECQL4):c.2854G>A (p.Gly952Ser) rs2130666255
NM_004260.4(RECQL4):c.2857C>A (p.Pro953Thr)
NM_004260.4(RECQL4):c.2857C>G (p.Pro953Ala) rs2130666187
NM_004260.4(RECQL4):c.2858C>G (p.Pro953Arg)
NM_004260.4(RECQL4):c.2858C>T (p.Pro953Leu)
NM_004260.4(RECQL4):c.2860G>C (p.Ala954Pro) rs1564791493
NM_004260.4(RECQL4):c.2861C>A (p.Ala954Asp) rs746594220
NM_004260.4(RECQL4):c.2861C>T (p.Ala954Val) rs746594220
NM_004260.4(RECQL4):c.2864A>G (p.Gln955Arg) rs1827473213
NM_004260.4(RECQL4):c.2866C>T (p.Leu956Phe) rs1827472743
NM_004260.4(RECQL4):c.286C>T (p.Arg96Trp)
NM_004260.4(RECQL4):c.2870A>G (p.Gln957Arg)
NM_004260.4(RECQL4):c.2871G>C (p.Gln957His) rs548485975
NM_004260.4(RECQL4):c.2872G>A (p.Ala958Thr) rs1564791450
NM_004260.4(RECQL4):c.2872G>C (p.Ala958Pro) rs1564791450
NM_004260.4(RECQL4):c.2872_2873delinsTT (p.Ala958Phe) rs2130665884
NM_004260.4(RECQL4):c.2873C>G (p.Ala958Gly) rs758952928
NM_004260.4(RECQL4):c.2876T>C (p.Leu959Pro) rs1554897159
NM_004260.4(RECQL4):c.2876T>G (p.Leu959Arg) rs1554897159
NM_004260.4(RECQL4):c.2878G>T (p.Ala960Ser)
NM_004260.4(RECQL4):c.2879C>G (p.Ala960Gly) rs373651108
NM_004260.4(RECQL4):c.287G>A (p.Arg96Gln)
NM_004260.4(RECQL4):c.2880C>G (p.Ala960=) rs766684128
NM_004260.4(RECQL4):c.2885+5G>C
NM_004260.4(RECQL4):c.2885+6C>T rs1827466838
NM_004260.4(RECQL4):c.2885G>A (p.Arg962Lys) rs577462627
NM_004260.4(RECQL4):c.2886-3C>G rs765331236
NM_004260.4(RECQL4):c.2886-7G>A rs757341042
NM_004260.4(RECQL4):c.2886G>C (p.Arg962Ser)
NM_004260.4(RECQL4):c.2890C>T (p.Pro964Ser) rs33972310
NM_004260.4(RECQL4):c.2891C>G (p.Pro964Arg)
NM_004260.4(RECQL4):c.2891C>T (p.Pro964Leu)
NM_004260.4(RECQL4):c.2894C>A (p.Pro965His)
NM_004260.4(RECQL4):c.2894C>G (p.Pro965Arg)
NM_004260.4(RECQL4):c.2895T>G (p.Pro965=)
NM_004260.4(RECQL4):c.2899G>T (p.Ala967Ser) rs2130664179
NM_004260.4(RECQL4):c.28C>G (p.Arg10Gly) rs757678397
NM_004260.4(RECQL4):c.2900C>G (p.Ala967Gly) rs1827447336
NM_004260.4(RECQL4):c.2901_2912del (p.Val968_Ala971del) rs1827445302
NM_004260.4(RECQL4):c.2902G>C (p.Val968Leu) rs1060501382
NM_004260.4(RECQL4):c.2903T>C (p.Val968Ala)
NM_004260.4(RECQL4):c.2904G>T (p.Val968=)
NM_004260.4(RECQL4):c.290G>A (p.Ser97Asn) rs773114060
NM_004260.4(RECQL4):c.291C>A (p.Ser97Arg) rs762806249
NM_004260.4(RECQL4):c.2920C>G (p.Leu974Val) rs1263288809
NM_004260.4(RECQL4):c.2924C>T (p.Pro975Leu) rs769194048
NM_004260.4(RECQL4):c.292C>T (p.Arg98Cys) rs2130735434
NM_004260.4(RECQL4):c.2931C>T (p.Asp977=)
NM_004260.4(RECQL4):c.2933C>T (p.Pro978Leu) rs746107365
NM_004260.4(RECQL4):c.2935G>A (p.Gly979Arg) rs587778645
NM_004260.4(RECQL4):c.2936G>A (p.Gly979Glu) rs1564790952
NM_004260.4(RECQL4):c.2939A>G (p.Gln980Arg)
NM_004260.4(RECQL4):c.293G>A (p.Arg98His)
NM_004260.4(RECQL4):c.293G>T (p.Arg98Leu) rs769634470
NM_004260.4(RECQL4):c.293_294delinsAA (p.Arg98Gln)
NM_004260.4(RECQL4):c.2941G>T (p.Gly981Cys) rs757541591
NM_004260.4(RECQL4):c.2941_2942insTTCCAA (p.Gly981delinsValProSer) rs776993029
NM_004260.4(RECQL4):c.2942G>A (p.Gly981Asp)
NM_004260.4(RECQL4):c.2944A>C (p.Ser982Arg) rs2130663507
NM_004260.4(RECQL4):c.2944A>G (p.Ser982Gly)
NM_004260.4(RECQL4):c.2945G>C (p.Ser982Thr) rs1158680101
NM_004260.4(RECQL4):c.2948G>A (p.Ser983Asn) rs1586795561
NM_004260.4(RECQL4):c.2950T>A (p.Ser984Thr)
NM_004260.4(RECQL4):c.2951C>A (p.Ser984Tyr)
NM_004260.4(RECQL4):c.2951C>T (p.Ser984Phe) rs777976493
NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu) rs200629599
NM_004260.4(RECQL4):c.2956G>A (p.Glu986Lys) rs1362276556
NM_004260.4(RECQL4):c.2957A>C (p.Glu986Ala)
NM_004260.4(RECQL4):c.2960T>G (p.Phe987Cys)
NM_004260.4(RECQL4):c.2961T>A (p.Phe987Leu) rs1060501363
NM_004260.4(RECQL4):c.2961T>G (p.Phe987Leu) rs1060501363
NM_004260.4(RECQL4):c.2962G>A (p.Asp988Asn) rs1554896950
NM_004260.4(RECQL4):c.2962G>T (p.Asp988Tyr) rs1554896950
NM_004260.4(RECQL4):c.2964C>G (p.Asp988Glu) rs1564790791
NM_004260.4(RECQL4):c.2966T>C (p.Met989Thr) rs767220757
NM_004260.4(RECQL4):c.296A>G (p.Gln99Arg) rs1586830416
NM_004260.4(RECQL4):c.2971A>G (p.Lys991Glu)
NM_004260.4(RECQL4):c.2974C>G (p.Leu992Val) rs1564790741
NM_004260.4(RECQL4):c.2978T>C (p.Val993Ala) rs2130662892
NM_004260.4(RECQL4):c.2978T>G (p.Val993Gly)
NM_004260.4(RECQL4):c.2979G>A (p.Val993=)
NM_004260.4(RECQL4):c.2980G>A (p.Asp994Asn) rs1827434628
NM_004260.4(RECQL4):c.2981A>C (p.Asp994Ala)
NM_004260.4(RECQL4):c.2988G>A (p.Met996Ile) rs1827433430
NM_004260.4(RECQL4):c.2989G>A (p.Gly997Ser) rs948234493
NM_004260.4(RECQL4):c.2991C>T (p.Gly997=)
NM_004260.4(RECQL4):c.2995G>C (p.Glu999Gln)
NM_004260.4(RECQL4):c.2997G>T (p.Glu999Asp) rs902652277
NM_004260.4(RECQL4):c.299G>A (p.Gly100Asp) rs1815236076
NM_004260.4(RECQL4):c.2T>C (p.Met1Thr) rs1815451689
NM_004260.4(RECQL4):c.3001G>A (p.Ala1001Thr)
NM_004260.4(RECQL4):c.3001G>C (p.Ala1001Pro) rs2130662576
NM_004260.4(RECQL4):c.3005C>T (p.Ser1002Phe)
NM_004260.4(RECQL4):c.3012G>A (p.Arg1004=)
NM_004260.4(RECQL4):c.3022T>A (p.Cys1008Ser)
NM_004260.4(RECQL4):c.3022T>C (p.Cys1008Arg) rs762312510
NM_004260.4(RECQL4):c.3023G>A (p.Cys1008Tyr) rs1564790487
NM_004260.4(RECQL4):c.3028C>G (p.Leu1010Val) rs1373023053
NM_004260.4(RECQL4):c.3029T>C (p.Leu1010Pro) rs1827424443
NM_004260.4(RECQL4):c.3034T>C (p.Trp1012Arg)
NM_004260.4(RECQL4):c.3037G>A (p.Asp1013Asn)
NM_004260.4(RECQL4):c.3037G>T (p.Asp1013Tyr)
NM_004260.4(RECQL4):c.3038A>C (p.Asp1013Ala) rs898859819
NM_004260.4(RECQL4):c.3040C>T (p.His1014Tyr) rs760096494
NM_004260.4(RECQL4):c.3040_3042del (p.His1014del) rs1827421175
NM_004260.4(RECQL4):c.3041A>C (p.His1014Pro)
NM_004260.4(RECQL4):c.3043G>C (p.Glu1015Gln) rs771381171
NM_004260.4(RECQL4):c.3046C>T (p.Pro1016Ser) rs1158975362
NM_004260.4(RECQL4):c.3050G>A (p.Arg1017Lys) rs1554896820
NM_004260.4(RECQL4):c.3050G>C (p.Arg1017Thr)
NM_004260.4(RECQL4):c.3055+20A>G
NM_004260.4(RECQL4):c.3055+3G>A
NM_004260.4(RECQL4):c.3055+5G>T
NM_004260.4(RECQL4):c.3056-20T>A
NM_004260.4(RECQL4):c.3056-4G>T rs2130660782
NM_004260.4(RECQL4):c.3056-7C>G
NM_004260.4(RECQL4):c.3056G>A (p.Gly1019Asp)
NM_004260.4(RECQL4):c.3058G>T (p.Val1020Leu)
NM_004260.4(RECQL4):c.305_310dup (p.Val102_Pro103dup) rs1362235551
NM_004260.4(RECQL4):c.3062G>C (p.Arg1021Pro) rs34666647
NM_004260.4(RECQL4):c.3062_3079dup (p.Arg1021_Val1026dup) rs1310379257
NM_004260.4(RECQL4):c.3065G>C (p.Arg1022Pro) rs560476442
NM_004260.4(RECQL4):c.3065G>T (p.Arg1022Leu) rs560476442
NM_004260.4(RECQL4):c.3067G>A (p.Gly1023Arg) rs1586793995
NM_004260.4(RECQL4):c.3067G>C (p.Gly1023Arg)
NM_004260.4(RECQL4):c.3068G>A (p.Gly1023Glu) rs764657835
NM_004260.4(RECQL4):c.3068G>C (p.Gly1023Ala) rs764657835
NM_004260.4(RECQL4):c.3070A>C (p.Thr1024Pro) rs1454305448
NM_004260.4(RECQL4):c.3070A>G (p.Thr1024Ala)
NM_004260.4(RECQL4):c.3071C>T (p.Thr1024Ile)
NM_004260.4(RECQL4):c.3075G>T (p.Gly1025=)
NM_004260.4(RECQL4):c.3076G>A (p.Val1026Met) rs370954099
NM_004260.4(RECQL4):c.3077T>A (p.Val1026Glu) rs1586793873
NM_004260.4(RECQL4):c.3078G>A (p.Val1026=)
NM_004260.4(RECQL4):c.307C>G (p.Pro103Ala) rs587778650
NM_004260.4(RECQL4):c.307C>T (p.Pro103Ser) rs587778650
NM_004260.4(RECQL4):c.3080T>C (p.Leu1027Pro) rs1827394535
NM_004260.4(RECQL4):c.3082G>C (p.Val1028Leu) rs1827394205
NM_004260.4(RECQL4):c.3083T>C (p.Val1028Ala) rs952414985
NM_004260.4(RECQL4):c.3083T>G (p.Val1028Gly) rs952414985
NM_004260.4(RECQL4):c.3086A>G (p.Glu1029Gly)
NM_004260.4(RECQL4):c.3087G>C (p.Glu1029Asp) rs767786765
NM_004260.4(RECQL4):c.3087G>T (p.Glu1029Asp) rs767786765
NM_004260.4(RECQL4):c.3090C>A (p.Phe1030Leu) rs767876394
NM_004260.4(RECQL4):c.3091A>G (p.Ser1031Gly) rs2130660092
NM_004260.4(RECQL4):c.3092G>C (p.Ser1031Thr) rs1307953192
NM_004260.4(RECQL4):c.3094G>A (p.Glu1032Lys) rs1249753953
NM_004260.4(RECQL4):c.3096G>C (p.Glu1032Asp) rs2130660032
NM_004260.4(RECQL4):c.309G>C (p.Pro103=)
NM_004260.4(RECQL4):c.3101C>A (p.Ala1034Asp)
NM_004260.4(RECQL4):c.3101C>G (p.Ala1034Gly)
NM_004260.4(RECQL4):c.3101C>T (p.Ala1034Val) rs1586793697
NM_004260.4(RECQL4):c.3105C>T (p.Phe1035=)
NM_004260.4(RECQL4):c.3106C>G (p.His1036Asp) rs1827388895
NM_004260.4(RECQL4):c.3106C>T (p.His1036Tyr)
NM_004260.4(RECQL4):c.3107A>G (p.His1036Arg) rs2130659859
NM_004260.4(RECQL4):c.3109C>T (p.Leu1037Phe) rs2130659824
NM_004260.4(RECQL4):c.310G>C (p.Asp104His)
NM_004260.4(RECQL4):c.310G>T (p.Asp104Tyr)
NM_004260.4(RECQL4):c.3114C>T (p.Arg1038=)
NM_004260.4(RECQL4):c.3115A>G (p.Ser1039Gly) rs2130659728
NM_004260.4(RECQL4):c.3116G>A (p.Ser1039Asn)
NM_004260.4(RECQL4):c.3119C>T (p.Pro1040Leu) rs370867731
NM_004260.4(RECQL4):c.3121G>A (p.Gly1041Arg) rs2130659641
NM_004260.4(RECQL4):c.3122G>A (p.Gly1041Glu) rs1827385602
NM_004260.4(RECQL4):c.3123_3124delinsAA (p.Asp1042Asn) rs1827384886
NM_004260.4(RECQL4):c.3124G>A (p.Asp1042Asn) rs1827384465
NM_004260.4(RECQL4):c.3124G>T (p.Asp1042Tyr) rs1827384465
NM_004260.4(RECQL4):c.3126_3127delinsAC (p.Asp1042Glu)
NM_004260.4(RECQL4):c.3126_3127delinsGC (p.Asp1042Glu) rs1827383516
NM_004260.4(RECQL4):c.3127T>G (p.Leu1043Val) rs4925828
NM_004260.4(RECQL4):c.3127_3128delinsCA (p.Leu1043Gln) rs2130659424
NM_004260.4(RECQL4):c.3127_3128delinsCC (p.Leu1043Pro)
NM_004260.4(RECQL4):c.3130A>G (p.Thr1044Ala)
NM_004260.4(RECQL4):c.3130A>T (p.Thr1044Ser) rs1827381348
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) rs771349728
NM_004260.4(RECQL4):c.3136GAG[1] (p.Glu1047del) rs747349932
NM_004260.4(RECQL4):c.3138G>T (p.Glu1046Asp) rs1286948806
NM_004260.4(RECQL4):c.3142A>G (p.Lys1048Glu) rs2130659205
NM_004260.4(RECQL4):c.3142_3144del (p.Lys1048del) rs772583454
NM_004260.4(RECQL4):c.3145G>C (p.Asp1049His) rs1176326208
NM_004260.4(RECQL4):c.3145_3150del (p.Asp1049_Gln1050del) rs2130659055
NM_004260.4(RECQL4):c.3150G>C (p.Gln1050His) rs2130659036
NM_004260.4(RECQL4):c.3153A>G (p.Ile1051Met) rs2130659004
NM_004260.4(RECQL4):c.3154T>C (p.Cys1052Arg) rs573929442
NM_004260.4(RECQL4):c.3154T>G (p.Cys1052Gly)
NM_004260.4(RECQL4):c.3159C>G (p.Asp1053Glu) rs763131728
NM_004260.4(RECQL4):c.3161T>G (p.Phe1054Cys) rs1564789631
NM_004260.4(RECQL4):c.3164T>C (p.Leu1055Pro) rs1060501380
NM_004260.4(RECQL4):c.3166T>C (p.Tyr1056His) rs1827370250
NM_004260.4(RECQL4):c.3166T>G (p.Tyr1056Asp) rs1827370250
NM_004260.4(RECQL4):c.3167A>G (p.Tyr1056Cys) rs773143092
NM_004260.4(RECQL4):c.3169G>A (p.Gly1057Ser)
NM_004260.4(RECQL4):c.3169G>C (p.Gly1057Arg)
NM_004260.4(RECQL4):c.316G>T (p.Gly106Trp) rs1379063242
NM_004260.4(RECQL4):c.3172C>A (p.Arg1058Ser) rs375297971
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3172C>T (p.Arg1058Cys) rs375297971
NM_004260.4(RECQL4):c.3173G>T (p.Arg1058Leu) rs778819494
NM_004260.4(RECQL4):c.3176T>G (p.Val1059Gly)
NM_004260.4(RECQL4):c.317G>A (p.Gly106Glu) rs1815229251
NM_004260.4(RECQL4):c.3180G>C (p.Gln1060His)
NM_004260.4(RECQL4):c.3182C>T (p.Ala1061Val) rs1827365759
NM_004260.4(RECQL4):c.3184C>G (p.Arg1062Gly) rs199658221
NM_004260.4(RECQL4):c.3185G>C (p.Arg1062Pro) rs558058260
NM_004260.4(RECQL4):c.3185G>T (p.Arg1062Leu)
NM_004260.4(RECQL4):c.3185_3199dup (p.Arg1062_Ala1066dup) rs1564789441
NM_004260.4(RECQL4):c.3186G>A (p.Arg1062=)
NM_004260.4(RECQL4):c.3186_3206del (p.Glu1063_Arg1069del) rs1827356241
NM_004260.4(RECQL4):c.3187G>A (p.Glu1063Lys)
NM_004260.4(RECQL4):c.3187_3188delinsAG (p.Glu1063Arg) rs2130658407
NM_004260.4(RECQL4):c.3188A>C (p.Glu1063Ala) rs1827365223
NM_004260.4(RECQL4):c.3188A>G (p.Glu1063Gly) rs1827365223
NM_004260.4(RECQL4):c.3189G>T (p.Glu1063Asp) rs1827364974
NM_004260.4(RECQL4):c.318G>T (p.Gly106=) rs756229189
NM_004260.4(RECQL4):c.3190C>T (p.Arg1064Cys) rs781751586
NM_004260.4(RECQL4):c.3194A>C (p.Gln1065Pro) rs2130658284
NM_004260.4(RECQL4):c.3196G>A (p.Ala1066Thr) rs1564789456
NM_004260.4(RECQL4):c.3200_3205del (p.Leu1067_Ala1068del) rs921796381
NM_004260.4(RECQL4):c.3202G>A (p.Ala1068Thr) rs1827358772
NM_004260.4(RECQL4):c.3205C>A (p.Arg1069Ser)
NM_004260.4(RECQL4):c.3205C>G (p.Arg1069Gly) rs758648484
NM_004260.4(RECQL4):c.3208C>T (p.Leu1070=)
NM_004260.4(RECQL4):c.320A>C (p.Gln107Pro) rs564527898
NM_004260.4(RECQL4):c.3211C>G (p.Arg1071Gly)
NM_004260.4(RECQL4):c.3211C>T (p.Arg1071Cys) rs767530194
NM_004260.4(RECQL4):c.3215G>C (p.Arg1072Thr) rs2130657787
NM_004260.4(RECQL4):c.3217A>C (p.Thr1073Pro) rs1827351854
NM_004260.4(RECQL4):c.3218C>G (p.Thr1073Ser)
NM_004260.4(RECQL4):c.3221T>A (p.Phe1074Tyr)
NM_004260.4(RECQL4):c.3226G>A (p.Ala1076Thr) rs1192096078
NM_004260.4(RECQL4):c.3226G>T (p.Ala1076Ser)
NM_004260.4(RECQL4):c.3228_3344del117 (p.Phe1077_Glu1115del)
NM_004260.4(RECQL4):c.322C>T (p.Arg108Trp)
NM_004260.4(RECQL4):c.3234C>A (p.His1078Gln)
NM_004260.4(RECQL4):c.3235A>G (p.Ser1079Gly)
NM_004260.4(RECQL4):c.3236+13_3236+14delinsTA
NM_004260.4(RECQL4):c.3236+6G>A rs1315586319
NM_004260.4(RECQL4):c.3236+8G>A
NM_004260.4(RECQL4):c.3236G>A (p.Ser1079Asn)
NM_004260.4(RECQL4):c.3236G>C (p.Ser1079Thr)
NM_004260.4(RECQL4):c.3237-10C>G
NM_004260.4(RECQL4):c.3237-34_3237-5dup rs2130656481
NM_004260.4(RECQL4):c.3237-6C>T rs1827332199
NM_004260.4(RECQL4):c.3237-9_3237-7del
NM_004260.4(RECQL4):c.3237C>A (p.Ser1079Arg) rs770553956
NM_004260.4(RECQL4):c.3237C>G (p.Ser1079Arg) rs770553956
NM_004260.4(RECQL4):c.3239T>C (p.Val1080Ala) rs757086331
NM_004260.4(RECQL4):c.323G>A (p.Arg108Gln) rs750502685
NM_004260.4(RECQL4):c.3242C>T (p.Ala1081Val) rs772617043
NM_004260.4(RECQL4):c.3247C>A (p.Pro1083Thr) rs374434439
NM_004260.4(RECQL4):c.3248C>T (p.Pro1083Leu) rs1586791818
NM_004260.4(RECQL4):c.3251G>A (p.Ser1084Asn) rs1362921798
NM_004260.4(RECQL4):c.3252C>T (p.Ser1084=)
NM_004260.4(RECQL4):c.3253T>C (p.Cys1085Arg) rs1161967688
NM_004260.4(RECQL4):c.3253_3255del (p.Cys1085del) rs1564788945
NM_004260.4(RECQL4):c.3254G>A (p.Cys1085Tyr) rs1827324588
NM_004260.4(RECQL4):c.3254G>C (p.Cys1085Ser)
NM_004260.4(RECQL4):c.3254G>T (p.Cys1085Phe) rs1827324588
NM_004260.4(RECQL4):c.3255C>G (p.Cys1085Trp) rs779365826
NM_004260.4(RECQL4):c.3256G>C (p.Gly1086Arg) rs587778646
NM_004260.4(RECQL4):c.3256G>T (p.Gly1086Trp)
NM_004260.4(RECQL4):c.3257G>A (p.Gly1086Glu) rs1827323404
NM_004260.4(RECQL4):c.3257G>T (p.Gly1086Val) rs1827323404
NM_004260.4(RECQL4):c.3259C>A (p.Pro1087Thr)
NM_004260.4(RECQL4):c.3259C>T (p.Pro1087Ser)
NM_004260.4(RECQL4):c.325C>T (p.Leu109Phe) rs1815226105
NM_004260.4(RECQL4):c.3262T>C (p.Cys1088Arg) rs1554896393
NM_004260.4(RECQL4):c.3263G>C (p.Cys1088Ser) rs780200030
NM_004260.4(RECQL4):c.3263G>T (p.Cys1088Phe) rs780200030
NM_004260.4(RECQL4):c.3265C>G (p.Leu1089Val) rs1350035847
NM_004260.4(RECQL4):c.3268G>C (p.Glu1090Gln) rs756401653
NM_004260.4(RECQL4):c.3269A>G (p.Glu1090Gly)
NM_004260.4(RECQL4):c.3274C>A (p.Gln1092Lys)
NM_004260.4(RECQL4):c.3275A>G (p.Gln1092Arg)
NM_004260.4(RECQL4):c.3280GAG[1] (p.Glu1095del) rs1586791499
NM_004260.4(RECQL4):c.3283G>A (p.Glu1095Lys)
NM_004260.4(RECQL4):c.3285G>T (p.Glu1095Asp) rs2130655535
NM_004260.4(RECQL4):c.3287G>T (p.Arg1096Leu)
NM_004260.4(RECQL4):c.3289A>T (p.Ser1097Cys)
NM_004260.4(RECQL4):c.3290G>C (p.Ser1097Thr) rs1400903506
NM_004260.4(RECQL4):c.3291C>G (p.Ser1097Arg) rs1827313240
NM_004260.4(RECQL4):c.3292A>G (p.Thr1098Ala) rs2130655429
NM_004260.4(RECQL4):c.3296G>A (p.Arg1099Lys) rs760298099
NM_004260.4(RECQL4):c.3298C>T (p.Leu1100Phe)
NM_004260.4(RECQL4):c.32T>A (p.Leu11Gln)
NM_004260.4(RECQL4):c.3304G>A (p.Asp1102Asn) rs1422371025
NM_004260.4(RECQL4):c.3308T>G (p.Leu1103Arg) rs1827309086
NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg) rs34915097
NM_004260.4(RECQL4):c.3316C>G (p.Arg1106Gly) rs770193726
NM_004260.4(RECQL4):c.3318C>G (p.Arg1106=) rs781456397
NM_004260.4(RECQL4):c.331G>A (p.Ala111Thr) rs1586830068
NM_004260.4(RECQL4):c.3320A>G (p.Tyr1107Cys) rs1827305384
NM_004260.4(RECQL4):c.3323T>C (p.Phe1108Ser) rs1332079370
NM_004260.4(RECQL4):c.3324T>A (p.Phe1108Leu)
NM_004260.4(RECQL4):c.3325G>A (p.Glu1109Lys) rs1586791117
NM_004260.4(RECQL4):c.3325G>C (p.Glu1109Gln) rs1586791117
NM_004260.4(RECQL4):c.3326A>C (p.Glu1109Ala) rs1445287185
NM_004260.4(RECQL4):c.3328G>A (p.Glu1110Lys)
NM_004260.4(RECQL4):c.3329A>G (p.Glu1110Gly) rs1827302126
NM_004260.4(RECQL4):c.332C>G (p.Ala111Gly) rs1586830051
NM_004260.4(RECQL4):c.3333G>C (p.Glu1111Asp) rs1324387645
NM_004260.4(RECQL4):c.3337G>A (p.Gly1113Arg) rs35101495
NM_004260.4(RECQL4):c.3341A>G (p.Gln1114Arg) rs1827298476
NM_004260.4(RECQL4):c.3343G>A (p.Glu1115Lys) rs2130654574
NM_004260.4(RECQL4):c.3344_3370del (p.Glu1115_Gln1123del) rs1827291045
NM_004260.4(RECQL4):c.3346C>G (p.Pro1116Ala)
NM_004260.4(RECQL4):c.3347C>A (p.Pro1116Gln)
NM_004260.4(RECQL4):c.3349G>A (p.Gly1117Arg) rs1238752974
NM_004260.4(RECQL4):c.3350G>A (p.Gly1117Glu)
NM_004260.4(RECQL4):c.3350G>C (p.Gly1117Ala) rs1199300079
NM_004260.4(RECQL4):c.3352G>T (p.Gly1118Cys)
NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp) rs1276726206
NM_004260.4(RECQL4):c.3353G>C (p.Gly1118Ala)
NM_004260.4(RECQL4):c.3353G>T (p.Gly1118Val) rs1276726206
NM_004260.4(RECQL4):c.3355A>T (p.Met1119Leu) rs2130654418
NM_004260.4(RECQL4):c.3355_3372del (p.Met1119_Gly1124del)
NM_004260.4(RECQL4):c.3356T>C (p.Met1119Thr)
NM_004260.4(RECQL4):c.335A>T (p.Asn112Ile) rs372651895
NM_004260.4(RECQL4):c.335_337dup (p.Asn112_Leu113insHis)
NM_004260.4(RECQL4):c.3360G>C (p.Glu1120Asp) rs770246912
NM_004260.4(RECQL4):c.3363C>A (p.Asp1121Glu) rs148752485
NM_004260.4(RECQL4):c.3367C>G (p.Gln1123Glu) rs995015088
NM_004260.4(RECQL4):c.3368A>C (p.Gln1123Pro) rs1827291422
NM_004260.4(RECQL4):c.3370G>A (p.Gly1124Ser) rs1586790742
NM_004260.4(RECQL4):c.3373C>A (p.Pro1125Thr) rs1253536369
NM_004260.4(RECQL4):c.3373C>T (p.Pro1125Ser)
NM_004260.4(RECQL4):c.3374C>A (p.Pro1125His)
NM_004260.4(RECQL4):c.3374C>G (p.Pro1125Arg)
NM_004260.4(RECQL4):c.3374C>T (p.Pro1125Leu)
NM_004260.4(RECQL4):c.3375C>A (p.Pro1125=)
NM_004260.4(RECQL4):c.3377A>C (p.Glu1126Ala) rs1030415007
NM_004260.4(RECQL4):c.3378G>C (p.Glu1126Asp)
NM_004260.4(RECQL4):c.3378G>T (p.Glu1126Asp) rs1827286724
NM_004260.4(RECQL4):c.3379C>T (p.Pro1127Ser) rs1418891842
NM_004260.4(RECQL4):c.3380C>T (p.Pro1127Leu) rs1827286027
NM_004260.4(RECQL4):c.3383G>A (p.Gly1128Glu) rs755845445
NM_004260.4(RECQL4):c.3383G>T (p.Gly1128Val)
NM_004260.4(RECQL4):c.3388G>A (p.Ala1130Thr) rs1186946412
NM_004260.4(RECQL4):c.338T>G (p.Leu113Arg) rs1245684504
NM_004260.4(RECQL4):c.3392G>T (p.Arg1131Ile) rs201369291
NM_004260.4(RECQL4):c.3393+11T>G
NM_004260.4(RECQL4):c.3393+14G>A
NM_004260.4(RECQL4):c.3393+16C>T
NM_004260.4(RECQL4):c.3393+18A>T
NM_004260.4(RECQL4):c.3393+4A>T
NM_004260.4(RECQL4):c.3394-13C>T
NM_004260.4(RECQL4):c.3394-4A>T rs777542762
NM_004260.4(RECQL4):c.3394-4dup rs2130652323
NM_004260.4(RECQL4):c.3394-8C>A
NM_004260.4(RECQL4):c.3394-9del rs2130652385
NM_004260.4(RECQL4):c.3394C>T (p.Leu1132Phe) rs1554895894
NM_004260.4(RECQL4):c.3396C>T (p.Leu1132=)
NM_004260.4(RECQL4):c.3399G>A (p.Gln1133=)
NM_004260.4(RECQL4):c.3400G>A (p.Asp1134Asn)
NM_004260.4(RECQL4):c.3400G>T (p.Asp1134Tyr)
NM_004260.4(RECQL4):c.3402T>G (p.Asp1134Glu)
NM_004260.4(RECQL4):c.3409G>A (p.Asp1137Asn)
NM_004260.4(RECQL4):c.3410A>G (p.Asp1137Gly) rs950715422
NM_004260.4(RECQL4):c.3410A>T (p.Asp1137Val) rs950715422
NM_004260.4(RECQL4):c.3411C>G (p.Asp1137Glu)
NM_004260.4(RECQL4):c.3412C>G (p.Gln1138Glu) rs1827255071
NM_004260.4(RECQL4):c.3413A>C (p.Gln1138Pro) rs1554895884
NM_004260.4(RECQL4):c.3413A>G (p.Gln1138Arg) rs1554895884
NM_004260.4(RECQL4):c.3415G>A (p.Val1139Ile) rs1431803679
NM_004260.4(RECQL4):c.3415G>T (p.Val1139Phe) rs1431803679
NM_004260.4(RECQL4):c.3417C>G (p.Val1139=) rs761157177
NM_004260.4(RECQL4):c.3421T>C (p.Cys1141Arg) rs587778647
NM_004260.4(RECQL4):c.3424G>A (p.Asp1142Asn) rs61755067
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.4(RECQL4):c.3430C>G (p.Arg1144Gly)
NM_004260.4(RECQL4):c.3433C>A (p.Gln1145Lys) rs1827248750
NM_004260.4(RECQL4):c.343G>A (p.Gly115Ser) rs1289970181
NM_004260.4(RECQL4):c.343G>C (p.Gly115Arg)
NM_004260.4(RECQL4):c.3440T>C (p.Leu1147Pro) rs1446094881
NM_004260.4(RECQL4):c.3443C>G (p.Ser1148Cys) rs35346077
NM_004260.4(RECQL4):c.3446T>C (p.Leu1149Pro) rs1358801934
NM_004260.4(RECQL4):c.3449G>A (p.Arg1150Lys) rs780676589
NM_004260.4(RECQL4):c.3449G>C (p.Arg1150Thr)
NM_004260.4(RECQL4):c.3449G>T (p.Arg1150Met) rs780676589
NM_004260.4(RECQL4):c.3451C>T (p.Pro1151Ser) rs1554895829
NM_004260.4(RECQL4):c.3454G>A (p.Glu1152Lys) rs1554895824
NM_004260.4(RECQL4):c.3454G>C (p.Glu1152Gln) rs1554895824
NM_004260.4(RECQL4):c.3454GAG[1] (p.Glu1153del) rs780986647
NM_004260.4(RECQL4):c.3456G>C (p.Glu1152Asp) rs756549605
NM_004260.4(RECQL4):c.3457G>C (p.Glu1153Gln)
NM_004260.4(RECQL4):c.3459G>C (p.Glu1153Asp) rs1827242769
NM_004260.4(RECQL4):c.3460A>T (p.Lys1154Ter) rs1564787413
NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del) rs1564787405
NM_004260.4(RECQL4):c.3462G>A (p.Lys1154=)
NM_004260.4(RECQL4):c.3462G>C (p.Lys1154Asn) rs1439767800
NM_004260.4(RECQL4):c.3467C>G (p.Ser1156Cys) rs373652049
NM_004260.4(RECQL4):c.3467C>T (p.Ser1156Phe) rs373652049
NM_004260.4(RECQL4):c.3472A>G (p.Arg1158Gly) rs1827239771
NM_004260.4(RECQL4):c.3475G>A (p.Ala1159Thr) rs1043628799
NM_004260.4(RECQL4):c.3476C>A (p.Ala1159Asp) rs766385605
NM_004260.4(RECQL4):c.3478G>A (p.Val1160Met) rs1827238382
NM_004260.4(RECQL4):c.3478G>C (p.Val1160Leu) rs1827238382
NM_004260.4(RECQL4):c.3479_3502+47del rs2130650294
NM_004260.4(RECQL4):c.347C>A (p.Thr116Asn) rs565419066
NM_004260.4(RECQL4):c.3481G>A (p.Ala1161Thr) rs916484589
NM_004260.4(RECQL4):c.3482C>T (p.Ala1161Val) rs1827237447
NM_004260.4(RECQL4):c.3484C>G (p.Arg1162Gly) rs773088003
NM_004260.4(RECQL4):c.3484_3502+8del rs1827230385
NM_004260.4(RECQL4):c.3485G>C (p.Arg1162Pro) rs747815189
NM_004260.4(RECQL4):c.3486_3502dup (p.Gly1168fs) rs751332709
NM_004260.4(RECQL4):c.3493C>G (p.His1165Asp) rs774202918
NM_004260.4(RECQL4):c.3493C>T (p.His1165Tyr)
NM_004260.4(RECQL4):c.3494_3502+8del
NM_004260.4(RECQL4):c.3495_3502+23del rs1827224893
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3496G>C (p.Gly1166Arg) rs779410033
NM_004260.4(RECQL4):c.3497G>T (p.Gly1166Val) rs1416975304
NM_004260.4(RECQL4):c.3497del (p.Gly1166fs) rs35626651
NM_004260.4(RECQL4):c.349C>G (p.Leu117Val)
NM_004260.4(RECQL4):c.34C>G (p.Gln12Glu)
NM_004260.4(RECQL4):c.3502+1G>T rs757563486
NM_004260.4(RECQL4):c.3502+2T>A
NM_004260.4(RECQL4):c.3502+3G>A
NM_004260.4(RECQL4):c.3502+4A>G rs1586788693
NM_004260.4(RECQL4):c.3502+5G>A rs758521652
NM_004260.4(RECQL4):c.3502+8C>T
NM_004260.4(RECQL4):c.3502G>T (p.Gly1168Ter) rs781543298
NM_004260.4(RECQL4):c.3502_3502+8del rs2130650891
NM_004260.4(RECQL4):c.3503-10T>C
NM_004260.4(RECQL4):c.3503-11C>A
NM_004260.4(RECQL4):c.3503-1G>A
NM_004260.4(RECQL4):c.3503-2A>C rs1371218064
NM_004260.4(RECQL4):c.3503-2A>G
NM_004260.4(RECQL4):c.3503-2A>T rs1371218064
NM_004260.4(RECQL4):c.3503-3T>C
NM_004260.4(RECQL4):c.3503-3T>G
NM_004260.4(RECQL4):c.3503-5C>G rs539465528
NM_004260.4(RECQL4):c.3503-7_3509del rs1827197544
NM_004260.4(RECQL4):c.3503G>A (p.Gly1168Glu)
NM_004260.4(RECQL4):c.3507C>A (p.Ser1169Arg) rs370738615
NM_004260.4(RECQL4):c.3508C>G (p.Pro1170Ala)
NM_004260.4(RECQL4):c.350T>A (p.Leu117Gln) rs1815218756
NM_004260.4(RECQL4):c.3511T>C (p.Cys1171Arg)
NM_004260.4(RECQL4):c.3513C>G (p.Cys1171Trp) rs2130649211
NM_004260.4(RECQL4):c.3520G>A (p.Ala1174Thr)
NM_004260.4(RECQL4):c.3520G>C (p.Ala1174Pro) rs1452579046
NM_004260.4(RECQL4):c.3521C>A (p.Ala1174Asp) rs587778648
NM_004260.4(RECQL4):c.3523C>T (p.Gln1175Ter) rs879192998
NM_004260.4(RECQL4):c.3525G>C (p.Gln1175His) rs757292188
NM_004260.4(RECQL4):c.3526G>A (p.Val1176Met) rs751477241
NM_004260.4(RECQL4):c.352C>G (p.Gln118Glu)
NM_004260.4(RECQL4):c.3531C>G (p.Tyr1177Ter) rs139228543
NM_004260.4(RECQL4):c.3532G>C (p.Gly1178Arg) rs776146178
NM_004260.4(RECQL4):c.3532G>T (p.Gly1178Trp) rs776146178
NM_004260.4(RECQL4):c.3533G>C (p.Gly1178Ala)
NM_004260.4(RECQL4):c.3536A>G (p.Gln1179Arg)
NM_004260.4(RECQL4):c.353A>G (p.Gln118Arg) rs757435100
NM_004260.4(RECQL4):c.354+19G>C
NM_004260.4(RECQL4):c.354+5G>T rs780212446
NM_004260.4(RECQL4):c.354+6G>A
NM_004260.4(RECQL4):c.354+6G>C
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.4(RECQL4):c.3542G>C (p.Arg1181Pro)
NM_004260.4(RECQL4):c.3542G>T (p.Arg1181Leu) rs370069034
NM_004260.4(RECQL4):c.3545_3546delinsTT (p.Arg1182Leu) rs1827186377
NM_004260.4(RECQL4):c.355-14T>C
NM_004260.4(RECQL4):c.355-3C>G rs778042700
NM_004260.4(RECQL4):c.355-9C>A rs571686323
NM_004260.4(RECQL4):c.3551G>A (p.Trp1184Ter)
NM_004260.4(RECQL4):c.3555A>T (p.Arg1185Ser) rs1586787396
NM_004260.4(RECQL4):c.3560A>C (p.Tyr1187Ser) rs1586787364
NM_004260.4(RECQL4):c.3560A>G (p.Tyr1187Cys) rs1586787364
NM_004260.4(RECQL4):c.3562C>G (p.Leu1188Val)
NM_004260.4(RECQL4):c.3565C>G (p.His1189Asp)
NM_004260.4(RECQL4):c.3569T>G (p.Leu1190Arg)
NM_004260.4(RECQL4):c.356C>A (p.Ala119Asp) rs997621519
NM_004260.4(RECQL4):c.356C>T (p.Ala119Val)
NM_004260.4(RECQL4):c.3571A>C (p.Ser1191Arg)
NM_004260.4(RECQL4):c.3573C>G (p.Ser1191Arg) rs199885535
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) rs758966528
NM_004260.4(RECQL4):c.3575T>G (p.Phe1192Cys)
NM_004260.4(RECQL4):c.3576C>G (p.Phe1192Leu) rs1586787251
NM_004260.4(RECQL4):c.3578A>G (p.His1193Arg) rs753427189
NM_004260.4(RECQL4):c.3578_3583del (p.His1193_Ala1194del) rs2130648343
NM_004260.4(RECQL4):c.3580G>A (p.Ala1194Thr) rs201809411
NM_004260.4(RECQL4):c.3580G>T (p.Ala1194Ser) rs201809411
NM_004260.4(RECQL4):c.3581C>A (p.Ala1194Asp)
NM_004260.4(RECQL4):c.3583C>G (p.Leu1195Val) rs1353637154
NM_004260.4(RECQL4):c.3589G>A (p.Gly1197Ser) rs1333144821
NM_004260.4(RECQL4):c.3589G>T (p.Gly1197Cys) rs1333144821
NM_004260.4(RECQL4):c.358G>A (p.Gly120Arg) rs571635676
NM_004260.4(RECQL4):c.3590G>A (p.Gly1197Asp) rs546643758
NM_004260.4(RECQL4):c.3593T>C (p.Leu1198Pro)
NM_004260.4(RECQL4):c.3595G>A (p.Ala1199Thr) rs1586787093
NM_004260.4(RECQL4):c.359G>A (p.Gly120Glu)
NM_004260.4(RECQL4):c.359G>C (p.Gly120Ala) rs779891153
NM_004260.4(RECQL4):c.3601del (p.Glu1201fs)
NM_004260.4(RECQL4):c.3604G>A (p.Glu1202Lys) rs1827173179
NM_004260.4(RECQL4):c.3606G>C (p.Glu1202Asp) rs1259980040
NM_004260.4(RECQL4):c.3606G>T (p.Glu1202Asp) rs1259980040
NM_004260.4(RECQL4):c.3607C>T (p.Leu1203Phe)
NM_004260.4(RECQL4):c.3609_3611del (p.Leu1204del) rs1554895414
NM_004260.4(RECQL4):c.3610C>T (p.Leu1204=)
NM_004260.4(RECQL4):c.3611T>A (p.Leu1204Gln) rs2130647931
NM_004260.4(RECQL4):c.3615G>C (p.Gln1205His) rs1586786914
NM_004260.4(RECQL4):c.3616G>A (p.Val1206Met) rs1346196114
NM_004260.4(RECQL4):c.3622C>G (p.Arg1208Gly) rs41555416
NM_004260.4(RECQL4):c.364G>T (p.Ala122Ser) rs750245958
NM_004260.4(RECQL4):c.365C>G (p.Ala122Gly)
NM_004260.4(RECQL4):c.365C>T (p.Ala122Val)
NM_004260.4(RECQL4):c.368T>G (p.Leu123Arg) rs1301601410
NM_004260.4(RECQL4):c.36G>C (p.Gln12His)
NM_004260.4(RECQL4):c.373C>T (p.Arg125Cys) rs762400332
NM_004260.4(RECQL4):c.374G>A (p.Arg125His)
NM_004260.4(RECQL4):c.377G>A (p.Arg126Lys) rs1815101790
NM_004260.4(RECQL4):c.379C>G (p.Pro127Ala) rs1815101287
NM_004260.4(RECQL4):c.379C>T (p.Pro127Ser)
NM_004260.4(RECQL4):c.37G>C (p.Ala13Pro) rs747356389
NM_004260.4(RECQL4):c.37G>T (p.Ala13Ser) rs747356389
NM_004260.4(RECQL4):c.384G>T (p.Trp128Cys) rs1335967859
NM_004260.4(RECQL4):c.386C>G (p.Pro129Arg)
NM_004260.4(RECQL4):c.391G>A (p.Gly131Arg) rs561427528
NM_004260.4(RECQL4):c.394A>G (p.Arg132Gly) rs929989281
NM_004260.4(RECQL4):c.395G>A (p.Arg132Lys) rs1815096415
NM_004260.4(RECQL4):c.398C>G (p.Ala133Gly) rs1815095431
NM_004260.4(RECQL4):c.3G>A (p.Met1Ile)
NM_004260.4(RECQL4):c.3G>T (p.Met1Ile) rs1815451127
NM_004260.4(RECQL4):c.401C>T (p.Ser134Leu)
NM_004260.4(RECQL4):c.402A>G (p.Ser134=)
NM_004260.4(RECQL4):c.403T>C (p.Ser135Pro) rs2130729542
NM_004260.4(RECQL4):c.404C>T (p.Ser135Phe) rs748201614
NM_004260.4(RECQL4):c.405T>A (p.Ser135=)
NM_004260.4(RECQL4):c.407A>C (p.Lys136Thr) rs1224242466
NM_004260.4(RECQL4):c.409G>A (p.Ala137Thr)
NM_004260.4(RECQL4):c.40T>C (p.Trp14Arg) rs758579262
NM_004260.4(RECQL4):c.40T>G (p.Trp14Gly) rs758579262
NM_004260.4(RECQL4):c.415A>G (p.Thr139Ala)
NM_004260.4(RECQL4):c.418C>T (p.Pro140Ser)
NM_004260.4(RECQL4):c.419C>T (p.Pro140Leu)
NM_004260.4(RECQL4):c.424C>G (p.Pro142Ala) rs781248589
NM_004260.4(RECQL4):c.427C>T (p.Pro143Ser) rs1023001689
NM_004260.4(RECQL4):c.428C>T (p.Pro143Leu) rs751329011
NM_004260.4(RECQL4):c.429A>C (p.Pro143=)
NM_004260.4(RECQL4):c.430G>T (p.Gly144Cys)
NM_004260.4(RECQL4):c.431G>T (p.Gly144Val)
NM_004260.4(RECQL4):c.433A>G (p.Thr145Ala)
NM_004260.4(RECQL4):c.433A>T (p.Thr145Ser)
NM_004260.4(RECQL4):c.434C>G (p.Thr145Arg)
NM_004260.4(RECQL4):c.434C>T (p.Thr145Ile) rs2130728963
NM_004260.4(RECQL4):c.436G>A (p.Gly146Arg) rs1815085488
NM_004260.4(RECQL4):c.439C>T (p.Pro147Ser)
NM_004260.4(RECQL4):c.43G>A (p.Glu15Lys)
NM_004260.4(RECQL4):c.445C>A (p.Pro149Thr)
NM_004260.4(RECQL4):c.445C>G (p.Pro149Ala) rs766844431
NM_004260.4(RECQL4):c.446C>G (p.Pro149Arg) rs773579080
NM_004260.4(RECQL4):c.447C>A (p.Pro149=)
NM_004260.4(RECQL4):c.449C>A (p.Ser150Tyr) rs748466411
NM_004260.4(RECQL4):c.449C>T (p.Ser150Phe)
NM_004260.4(RECQL4):c.454G>A (p.Ala152Thr) rs2130728610
NM_004260.4(RECQL4):c.455C>G (p.Ala152Gly) rs774699880
NM_004260.4(RECQL4):c.457G>C (p.Glu153Gln) rs2130728564
NM_004260.4(RECQL4):c.458A>G (p.Glu153Gly) rs1815075943
NM_004260.4(RECQL4):c.460A>G (p.Lys154Glu) rs2130728507
NM_004260.4(RECQL4):c.462A>G (p.Lys154=)
NM_004260.4(RECQL4):c.463G>C (p.Val155Leu)
NM_004260.4(RECQL4):c.464T>A (p.Val155Asp)
NM_004260.4(RECQL4):c.464T>G (p.Val155Gly)
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374
NM_004260.4(RECQL4):c.468T>A (p.Ser156Arg)
NM_004260.4(RECQL4):c.46C>A (p.Arg16Ser)
NM_004260.4(RECQL4):c.470A>G (p.Asp157Gly) rs1815072083
NM_004260.4(RECQL4):c.471T>G (p.Asp157Glu)
NM_004260.4(RECQL4):c.472G>C (p.Glu158Gln) rs1387642543
NM_004260.4(RECQL4):c.473A>T (p.Glu158Val) rs2130728222
NM_004260.4(RECQL4):c.476C>A (p.Pro159His)
NM_004260.4(RECQL4):c.476C>T (p.Pro159Leu) rs1815070006
NM_004260.4(RECQL4):c.478C>G (p.Pro160Ala) rs758124770
NM_004260.4(RECQL4):c.478C>T (p.Pro160Ser) rs758124770
NM_004260.4(RECQL4):c.479C>T (p.Pro160Leu) rs752454965
NM_004260.4(RECQL4):c.47G>A (p.Arg16His)
NM_004260.4(RECQL4):c.484C>T (p.Leu162Phe) rs2130727988
NM_004260.4(RECQL4):c.487C>T (p.Pro163Ser) rs1815067197
NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)
NM_004260.4(RECQL4):c.488C>T (p.Pro163Leu)
NM_004260.4(RECQL4):c.490G>C (p.Glu164Gln) rs576735078
NM_004260.4(RECQL4):c.491A>G (p.Glu164Gly) rs1554903532
NM_004260.4(RECQL4):c.497A>G (p.Gln166Arg) rs1815064202
NM_004260.4(RECQL4):c.498G>C (p.Gln166His)
NM_004260.4(RECQL4):c.499C>T (p.Pro167Ser) rs1312949637
NM_004260.4(RECQL4):c.49G>A (p.Ala17Thr)
NM_004260.4(RECQL4):c.4G>C (p.Glu2Gln)
NM_004260.4(RECQL4):c.500C>T (p.Pro167Leu)
NM_004260.4(RECQL4):c.506C>T (p.Pro169Leu) rs1815062742
NM_004260.4(RECQL4):c.508G>A (p.Gly170Ser) rs774750928
NM_004260.4(RECQL4):c.508G>C (p.Gly170Arg)
NM_004260.4(RECQL4):c.509G>C (p.Gly170Ala) rs768956367
NM_004260.4(RECQL4):c.50C>T (p.Ala17Val) rs1815433589
NM_004260.4(RECQL4):c.511C>G (p.Arg171Gly) rs775651175
NM_004260.4(RECQL4):c.512G>T (p.Arg171Leu) rs770777125
NM_004260.4(RECQL4):c.519G>T (p.Gln173His)
NM_004260.4(RECQL4):c.520C>A (p.His174Asn) rs369382124
NM_004260.4(RECQL4):c.520C>G (p.His174Asp) rs369382124
NM_004260.4(RECQL4):c.527A>C (p.Gln176Pro) rs2130727180
NM_004260.4(RECQL4):c.529G>A (p.Ala177Thr) rs2130727146
NM_004260.4(RECQL4):c.530C>T (p.Ala177Val)
NM_004260.4(RECQL4):c.531A>T (p.Ala177=)
NM_004260.4(RECQL4):c.532T>C (p.Ser178Pro) rs1294313948
NM_004260.4(RECQL4):c.533C>T (p.Ser178Phe) rs1203672864
NM_004260.4(RECQL4):c.538A>G (p.Ser180Gly)
NM_004260.4(RECQL4):c.539G>C (p.Ser180Thr) rs1060501378
NM_004260.4(RECQL4):c.53T>C (p.Phe18Ser) rs2130745700
NM_004260.4(RECQL4):c.541C>G (p.Gln181Glu)
NM_004260.4(RECQL4):c.542A>G (p.Gln181Arg) rs1001801628
NM_004260.4(RECQL4):c.543G>C (p.Gln181His) rs34159914
NM_004260.4(RECQL4):c.544C>G (p.Arg182Gly) rs750986351
NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro) rs565903685
NM_004260.4(RECQL4):c.545G>T (p.Arg182Leu)
NM_004260.4(RECQL4):c.548T>A (p.Leu183Gln) rs1347831284
NM_004260.4(RECQL4):c.548T>C (p.Leu183Pro) rs1347831284
NM_004260.4(RECQL4):c.554C>A (p.Ser185Tyr)
NM_004260.4(RECQL4):c.555C>T (p.Ser185=)
NM_004260.4(RECQL4):c.556C>G (p.Leu186Val) rs1171892293
NM_004260.4(RECQL4):c.559G>T (p.Asp187Tyr)
NM_004260.4(RECQL4):c.55C>G (p.Arg19Gly) rs1401366375
NM_004260.4(RECQL4):c.560A>G (p.Asp187Gly) rs1815046572
NM_004260.4(RECQL4):c.561T>G (p.Asp187Glu) rs2130726467
NM_004260.4(RECQL4):c.563C>A (p.Pro188His) rs773241386
NM_004260.4(RECQL4):c.563C>G (p.Pro188Arg) rs773241386
NM_004260.4(RECQL4):c.566G>A (p.Gly189Asp) rs1564808143
NM_004260.4(RECQL4):c.569G>C (p.Trp190Ser) rs2130726288
NM_004260.4(RECQL4):c.56G>T (p.Arg19Leu)
NM_004260.4(RECQL4):c.581G>A (p.Cys194Tyr) rs1206707992
NM_004260.4(RECQL4):c.586A>G (p.Ser196Gly)
NM_004260.4(RECQL4):c.58C>T (p.Arg20Trp) rs1564812906
NM_004260.4(RECQL4):c.592G>T (p.Val198Phe) rs749010505
NM_004260.4(RECQL4):c.595C>T (p.Pro199Ser)
NM_004260.4(RECQL4):c.596C>T (p.Pro199Leu) rs1564808023
NM_004260.4(RECQL4):c.598G>A (p.Asp200Asn) rs779547501
NM_004260.4(RECQL4):c.59G>A (p.Arg20Gln)
NM_004260.4(RECQL4):c.5A>G (p.Glu2Gly) rs2130746663
NM_004260.4(RECQL4):c.603T>G (p.Phe201Leu) rs1300462160
NM_004260.4(RECQL4):c.604C>G (p.Leu202Val) rs61754062
NM_004260.4(RECQL4):c.605T>C (p.Leu202Pro)
NM_004260.4(RECQL4):c.610G>A (p.Ala204Thr)
NM_004260.4(RECQL4):c.610G>C (p.Ala204Pro) rs879075324
NM_004260.4(RECQL4):c.611C>G (p.Ala204Gly) rs757780731
NM_004260.4(RECQL4):c.619G>T (p.Ala207Ser) rs2130725510
NM_004260.4(RECQL4):c.620C>T (p.Ala207Val) rs2130725479
NM_004260.4(RECQL4):c.623G>A (p.Cys208Tyr) rs1815031928
NM_004260.4(RECQL4):c.627G>T (p.Arg209Ser) rs1586825129
NM_004260.4(RECQL4):c.629C>T (p.Pro210Leu)
NM_004260.4(RECQL4):c.62A>G (p.Gln21Arg) rs2130745502
NM_004260.4(RECQL4):c.631G>A (p.Asp211Asn)
NM_004260.4(RECQL4):c.632A>G (p.Asp211Gly)
NM_004260.4(RECQL4):c.634C>A (p.Leu212Ile) rs377012693
NM_004260.4(RECQL4):c.634C>G (p.Leu212Val) rs377012693
NM_004260.4(RECQL4):c.635T>G (p.Leu212Arg) rs2130725247
NM_004260.4(RECQL4):c.637G>A (p.Gly213Ser)
NM_004260.4(RECQL4):c.638G>T (p.Gly213Val)
NM_004260.4(RECQL4):c.641C>T (p.Ser214Leu)
NM_004260.4(RECQL4):c.643G>A (p.Glu215Lys) rs749049274
NM_004260.4(RECQL4):c.643G>C (p.Glu215Gln) rs749049274
NM_004260.4(RECQL4):c.64C>T (p.Arg22Cys) rs960379510
NM_004260.4(RECQL4):c.650C>T (p.Ser217Leu)
NM_004260.4(RECQL4):c.652C>G (p.Gln218Glu)
NM_004260.4(RECQL4):c.653A>G (p.Gln218Arg) rs1815022318
NM_004260.4(RECQL4):c.655C>G (p.Leu219Val)
NM_004260.4(RECQL4):c.657_659del (p.Leu220del) rs2130724840
NM_004260.4(RECQL4):c.658C>G (p.Leu220Val) rs747576464
NM_004260.4(RECQL4):c.65G>A (p.Arg22His)
NM_004260.4(RECQL4):c.661A>T (p.Ile221Phe)
NM_004260.4(RECQL4):c.663C>G (p.Ile221Met) rs367960606
NM_004260.4(RECQL4):c.665C>G (p.Pro222Arg)
NM_004260.4(RECQL4):c.665C>T (p.Pro222Leu) rs1452356265
NM_004260.4(RECQL4):c.668G>A (p.Gly223Asp)
NM_004260.4(RECQL4):c.671A>C (p.Glu224Ala)
NM_004260.4(RECQL4):c.671_694dup (p.Glu224_Gly231dup) rs1423848473
NM_004260.4(RECQL4):c.672G>A (p.Glu224=)
NM_004260.4(RECQL4):c.672G>C (p.Glu224Asp)
NM_004260.4(RECQL4):c.673T>A (p.Ser225Thr) rs1259887674
NM_004260.4(RECQL4):c.673T>C (p.Ser225Pro) rs1259887674
NM_004260.4(RECQL4):c.674C>G (p.Ser225Trp) rs753959069
NM_004260.4(RECQL4):c.674C>T (p.Ser225Leu) rs753959069
NM_004260.4(RECQL4):c.676G>A (p.Ala226Thr)
NM_004260.4(RECQL4):c.676G>C (p.Ala226Pro) rs2130724478
NM_004260.4(RECQL4):c.677C>G (p.Ala226Gly) rs763975196
NM_004260.4(RECQL4):c.679G>A (p.Val227Ile)
NM_004260.4(RECQL4):c.679G>C (p.Val227Leu)
NM_004260.4(RECQL4):c.682C>A (p.Leu228Ile) rs1316434470
NM_004260.4(RECQL4):c.685G>C (p.Gly229Arg) rs374104402
NM_004260.4(RECQL4):c.685G>T (p.Gly229Cys) rs374104402
NM_004260.4(RECQL4):c.686G>A (p.Gly229Asp) rs1049360087
NM_004260.4(RECQL4):c.688C>A (p.Pro230Thr) rs745571670
NM_004260.4(RECQL4):c.68G>T (p.Gly23Val) rs1815429028
NM_004260.4(RECQL4):c.691G>A (p.Gly231Ser) rs1001434106
NM_004260.4(RECQL4):c.692G>A (p.Gly231Asp) rs1363657823
NM_004260.4(RECQL4):c.694G>A (p.Ala232Thr) rs776332812
NM_004260.4(RECQL4):c.695C>T (p.Ala232Val)
NM_004260.4(RECQL4):c.698G>A (p.Gly233Asp) rs2130724078
NM_004260.4(RECQL4):c.700T>A (p.Ser234Thr)
NM_004260.4(RECQL4):c.701C>T (p.Ser234Phe) rs746487281
NM_004260.4(RECQL4):c.704A>G (p.Gln235Arg) rs1586824485
NM_004260.4(RECQL4):c.705G>C (p.Gln235His) rs1177971610
NM_004260.4(RECQL4):c.706G>A (p.Gly236Ser)
NM_004260.4(RECQL4):c.707G>A (p.Gly236Asp) rs778457870
NM_004260.4(RECQL4):c.707G>C (p.Gly236Ala)
NM_004260.4(RECQL4):c.707G>T (p.Gly236Val) rs778457870
NM_004260.4(RECQL4):c.709C>T (p.Pro237Ser) rs370391716
NM_004260.4(RECQL4):c.70C>T (p.Arg24Trp) rs1586835635
NM_004260.4(RECQL4):c.712G>A (p.Glu238Lys) rs587778651
NM_004260.4(RECQL4):c.712G>C (p.Glu238Gln)
NM_004260.4(RECQL4):c.715G>A (p.Ala239Thr)
NM_004260.4(RECQL4):c.715G>C (p.Ala239Pro)
NM_004260.4(RECQL4):c.715G>T (p.Ala239Ser)
NM_004260.4(RECQL4):c.716C>A (p.Ala239Asp) rs146709578
NM_004260.4(RECQL4):c.717_719del (p.Ser240del)
NM_004260.4(RECQL4):c.71G>A (p.Arg24Gln) rs1296633763
NM_004260.4(RECQL4):c.721G>A (p.Ala241Thr) rs1815000155
NM_004260.4(RECQL4):c.721G>C (p.Ala241Pro) rs1815000155
NM_004260.4(RECQL4):c.722C>G (p.Ala241Gly) rs749435879
NM_004260.4(RECQL4):c.722C>T (p.Ala241Val) rs749435879
NM_004260.4(RECQL4):c.723C>G (p.Ala241=)
NM_004260.4(RECQL4):c.726C>A (p.Phe242Leu) rs1814998636
NM_004260.4(RECQL4):c.728AAG[1] (p.Glu244del) rs1814996685
NM_004260.4(RECQL4):c.729A>C (p.Gln243His) rs1227594944
NM_004260.4(RECQL4):c.731A>G (p.Glu244Gly) rs1814997320
NM_004260.4(RECQL4):c.733G>A (p.Val245Ile) rs2130723324
NM_004260.4(RECQL4):c.734T>G (p.Val245Gly) rs1814996367
NM_004260.4(RECQL4):c.736A>C (p.Ser246Arg) rs1564807240
NM_004260.4(RECQL4):c.737G>C (p.Ser246Thr) rs1586824146
NM_004260.4(RECQL4):c.737_738delinsTT (p.Ser246Ile)
NM_004260.4(RECQL4):c.740T>G (p.Ile247Ser)
NM_004260.4(RECQL4):c.741C>G (p.Ile247Met) rs1389538148
NM_004260.4(RECQL4):c.745G>C (p.Val249Leu) rs756397882
NM_004260.4(RECQL4):c.748G>A (p.Gly250Arg) rs1174607613
NM_004260.4(RECQL4):c.752G>A (p.Ser251Asn)
NM_004260.4(RECQL4):c.752G>C (p.Ser251Thr) rs1269997113
NM_004260.4(RECQL4):c.752G>T (p.Ser251Ile) rs1269997113
NM_004260.4(RECQL4):c.753C>A (p.Ser251Arg) rs1202043761
NM_004260.4(RECQL4):c.754C>T (p.Pro252Ser) rs376485578
NM_004260.4(RECQL4):c.763A>G (p.Ser255Gly)
NM_004260.4(RECQL4):c.764G>A (p.Ser255Asn) rs1814987051
NM_004260.4(RECQL4):c.767G>A (p.Ser256Asn) rs2130722622
NM_004260.4(RECQL4):c.768C>A (p.Ser256Arg) rs772714143
NM_004260.4(RECQL4):c.768C>G (p.Ser256Arg) rs772714143
NM_004260.4(RECQL4):c.769A>G (p.Ser257Gly) rs748671989
NM_004260.4(RECQL4):c.76C>G (p.Pro26Ala) rs2130745257
NM_004260.4(RECQL4):c.76C>T (p.Pro26Ser)
NM_004260.4(RECQL4):c.770G>A (p.Ser257Asn)
NM_004260.4(RECQL4):c.772G>A (p.Gly258Arg)
NM_004260.4(RECQL4):c.77C>G (p.Pro26Arg) rs1815427295
NM_004260.4(RECQL4):c.780G>C (p.Glu260Asp) rs780272651
NM_004260.4(RECQL4):c.781A>G (p.Lys261Glu) rs756268379
NM_004260.4(RECQL4):c.784C>G (p.Arg262Gly)
NM_004260.4(RECQL4):c.789A>C (p.Arg263Ser) rs1430320264
NM_004260.4(RECQL4):c.789A>T (p.Arg263Ser) rs1430320264
NM_004260.4(RECQL4):c.794A>G (p.Asn265Ser) rs1814980293
NM_004260.4(RECQL4):c.79A>G (p.Ser27Gly)
NM_004260.4(RECQL4):c.7C>G (p.Arg3Gly) rs886042531
NM_004260.4(RECQL4):c.80G>A (p.Ser27Asn) rs1815426587
NM_004260.4(RECQL4):c.812G>A (p.Ser271Asn)
NM_004260.4(RECQL4):c.812G>C (p.Ser271Thr)
NM_004260.4(RECQL4):c.814C>A (p.Pro272Thr) rs1202501641
NM_004260.4(RECQL4):c.814C>T (p.Pro272Ser)
NM_004260.4(RECQL4):c.815C>T (p.Pro272Leu) rs771543750
NM_004260.4(RECQL4):c.818C>T (p.Ala273Val) rs1349749745
NM_004260.4(RECQL4):c.820C>A (p.Gln274Lys)
NM_004260.4(RECQL4):c.821A>G (p.Gln274Arg) rs1279942403
NM_004260.4(RECQL4):c.823G>A (p.Val275Ile) rs1814968941
NM_004260.4(RECQL4):c.823G>C (p.Val275Leu)
NM_004260.4(RECQL4):c.825C>A (p.Val275=) rs1814968623
NM_004260.4(RECQL4):c.828G>C (p.Gln276His)
NM_004260.4(RECQL4):c.829C>A (p.Gln277Lys)
NM_004260.4(RECQL4):c.82C>A (p.Gln28Lys) rs794726912
NM_004260.4(RECQL4):c.82C>G (p.Gln28Glu)
NM_004260.4(RECQL4):c.830A>T (p.Gln277Leu) rs913014713
NM_004260.4(RECQL4):c.833A>G (p.Glu278Gly)
NM_004260.4(RECQL4):c.837C>G (p.Ser279Arg) rs1814966596
NM_004260.4(RECQL4):c.84+13_84+20del
NM_004260.4(RECQL4):c.84+16G>A
NM_004260.4(RECQL4):c.84+2dup
NM_004260.4(RECQL4):c.84+4C>A
NM_004260.4(RECQL4):c.84+5G>A
NM_004260.4(RECQL4):c.84+5G>C rs1060501367
NM_004260.4(RECQL4):c.84+5G>T rs1060501367
NM_004260.4(RECQL4):c.840C>G (p.Ser280Arg) rs1407076588
NM_004260.4(RECQL4):c.842A>G (p.Gln281Arg)
NM_004260.4(RECQL4):c.845C>A (p.Ala282Asp)
NM_004260.4(RECQL4):c.847G>A (p.Gly283Arg) rs2130721404
NM_004260.4(RECQL4):c.848G>T (p.Gly283Val) rs1814964597
NM_004260.4(RECQL4):c.84G>A (p.Gln28=) rs1586835584
NM_004260.4(RECQL4):c.84G>C (p.Gln28His) rs1586835584
NM_004260.4(RECQL4):c.85-17A>G
NM_004260.4(RECQL4):c.85-21_85-12del rs2130744106
NM_004260.4(RECQL4):c.85-26_85-20dup
NM_004260.4(RECQL4):c.85-5T>G rs1815407702
NM_004260.4(RECQL4):c.85-9C>G
NM_004260.4(RECQL4):c.857C>G (p.Ser286Trp) rs757320755
NM_004260.4(RECQL4):c.862G>C (p.Gly288Arg) rs199706417
NM_004260.4(RECQL4):c.863G>A (p.Gly288Glu) rs980430542
NM_004260.4(RECQL4):c.863GGGCTG[3] (p.288GA[3]) rs1554902664
NM_004260.4(RECQL4):c.865G>C (p.Ala289Pro)
NM_004260.4(RECQL4):c.866C>T (p.Ala289Val) rs1586823053
NM_004260.4(RECQL4):c.868G>A (p.Gly290Arg) rs1814954879
NM_004260.4(RECQL4):c.86A>G (p.Asp29Gly)
NM_004260.4(RECQL4):c.871G>A (p.Ala291Thr) rs1814953388
NM_004260.4(RECQL4):c.872C>T (p.Ala291Val) rs1396400224
NM_004260.4(RECQL4):c.874G>A (p.Val292Ile) rs1814952259
NM_004260.4(RECQL4):c.877G>A (p.Ala293Thr)
NM_004260.4(RECQL4):c.880G>A (p.Val294Ile) rs753691518
NM_004260.4(RECQL4):c.881T>C (p.Val294Ala) rs766346414
NM_004260.4(RECQL4):c.88G>C (p.Asp30His)
NM_004260.4(RECQL4):c.891C>A (p.Asp297Glu)
NM_004260.4(RECQL4):c.891C>G (p.Asp297Glu) rs34700133
NM_004260.4(RECQL4):c.892C>A (p.Pro298Thr)
NM_004260.4(RECQL4):c.893C>T (p.Pro298Leu) rs373334948
NM_004260.4(RECQL4):c.895C>G (p.Pro299Ala) rs1319378486
NM_004260.4(RECQL4):c.895C>T (p.Pro299Ser) rs1319378486
NM_004260.4(RECQL4):c.898G>A (p.Gly300Arg) rs764510816
NM_004260.4(RECQL4):c.899G>A (p.Gly300Glu) rs369842607
NM_004260.4(RECQL4):c.899G>T (p.Gly300Val)
NM_004260.4(RECQL4):c.89A>G (p.Asp30Gly)
NM_004260.4(RECQL4):c.8G>A (p.Arg3Gln) rs979012066
NM_004260.4(RECQL4):c.8_10dup (p.Arg3_Leu4insArg)
NM_004260.4(RECQL4):c.903A>T (p.Glu301Asp) rs746200109
NM_004260.4(RECQL4):c.904C>G (p.Pro302Ala) rs771135444
NM_004260.4(RECQL4):c.905C>A (p.Pro302His)
NM_004260.4(RECQL4):c.905C>G (p.Pro302Arg)
NM_004260.4(RECQL4):c.905C>T (p.Pro302Leu) rs1242395636
NM_004260.4(RECQL4):c.907G>A (p.Val303Ile) rs1489813654
NM_004260.4(RECQL4):c.907G>T (p.Val303Leu) rs1489813654
NM_004260.4(RECQL4):c.910C>G (p.Gln304Glu)
NM_004260.4(RECQL4):c.911A>G (p.Gln304Arg) rs2130720006
NM_004260.4(RECQL4):c.917_922dup (p.Pro307_Pro308insGlnPro)
NM_004260.4(RECQL4):c.922C>A (p.Pro308Thr) rs756016498
NM_004260.4(RECQL4):c.922C>T (p.Pro308Ser)
NM_004260.4(RECQL4):c.923C>G (p.Pro308Arg)
NM_004260.4(RECQL4):c.925C>G (p.Gln309Glu) rs1554902528
NM_004260.4(RECQL4):c.926A>C (p.Gln309Pro) rs2130719699
NM_004260.4(RECQL4):c.926A>G (p.Gln309Arg)
NM_004260.4(RECQL4):c.927G>T (p.Gln309His) rs1814934410
NM_004260.4(RECQL4):c.928C>T (p.Pro310Ser) rs1060501376
NM_004260.4(RECQL4):c.929C>T (p.Pro310Leu) rs368504960
NM_004260.4(RECQL4):c.929_930delinsTT (p.Pro310Leu) rs2130719606
NM_004260.4(RECQL4):c.92T>C (p.Val31Ala)
NM_004260.4(RECQL4):c.931T>G (p.Cys311Gly)
NM_004260.4(RECQL4):c.934A>G (p.Ser312Gly)
NM_004260.4(RECQL4):c.935G>A (p.Ser312Asn)
NM_004260.4(RECQL4):c.941C>T (p.Pro314Leu) rs1814931093
NM_004260.4(RECQL4):c.944C>G (p.Ser315Trp) rs376493359
NM_004260.4(RECQL4):c.945G>T (p.Ser315=)
NM_004260.4(RECQL4):c.946A>C (p.Asn316His) rs915773238
NM_004260.4(RECQL4):c.94G>C (p.Glu32Gln) rs1815404112
NM_004260.4(RECQL4):c.950C>T (p.Pro317Leu) rs2130719164
NM_004260.4(RECQL4):c.952A>G (p.Arg318Gly) rs2130719127
NM_004260.4(RECQL4):c.953G>A (p.Arg318Lys) rs1814927713
NM_004260.4(RECQL4):c.953G>C (p.Arg318Thr) rs1814927713
NM_004260.4(RECQL4):c.954G>C (p.Arg318Ser)
NM_004260.4(RECQL4):c.956A>G (p.Tyr319Cys) rs773296181
NM_004260.4(RECQL4):c.958_960dup (p.His320_Gly321insHis)
NM_004260.4(RECQL4):c.960C>G (p.His320Gln)
NM_004260.4(RECQL4):c.964C>A (p.Leu322Ile) rs780176764
NM_004260.4(RECQL4):c.964C>T (p.Leu322Phe) rs780176764
NM_004260.4(RECQL4):c.965T>C (p.Leu322Pro) rs2130718879
NM_004260.4(RECQL4):c.968G>A (p.Ser323Asn)
NM_004260.4(RECQL4):c.969C>G (p.Ser323Arg) rs745658597
NM_004260.4(RECQL4):c.971C>T (p.Pro324Leu) rs756986756
NM_004260.4(RECQL4):c.972_973delinsTC (p.Ser325Pro)
NM_004260.4(RECQL4):c.974C>G (p.Ser325Cys) rs1441068518
NM_004260.4(RECQL4):c.974C>T (p.Ser325Phe) rs1441068518
NM_004260.4(RECQL4):c.977G>A (p.Ser326Asn)
NM_004260.4(RECQL4):c.977G>T (p.Ser326Ile) rs1586822184
NM_004260.4(RECQL4):c.980A>C (p.Gln327Pro) rs1183506714
NM_004260.4(RECQL4):c.982G>C (p.Ala328Pro) rs2130718555
NM_004260.4(RECQL4):c.983C>G (p.Ala328Gly) rs777258662
NM_004260.4(RECQL4):c.986G>A (p.Arg329Lys) rs1814915989
NM_004260.4(RECQL4):c.986G>C (p.Arg329Thr)
NM_004260.4(RECQL4):c.989C>T (p.Ala330Val)
NM_004260.4(RECQL4):c.98C>T (p.Ala33Val)
NM_004260.4(RECQL4):c.991G>A (p.Gly331Arg) rs2130718366
NM_004273.5(CHST3):c.*1088A>G rs115617050
NM_004273.5(CHST3):c.*1088A>T rs115617050
NM_004273.5(CHST3):c.*1090G>A rs148125052
NM_004273.5(CHST3):c.*1184C>G rs187692473
NM_004273.5(CHST3):c.*1185C>G rs373515105
NM_004273.5(CHST3):c.*1212C>G rs866928391
NM_004273.5(CHST3):c.*1399T>C rs562405951
NM_004273.5(CHST3):c.*1404C>G rs886047170
NM_004273.5(CHST3):c.*1453G>A rs1840091934
NM_004273.5(CHST3):c.*1584T>G rs886047171
NM_004273.5(CHST3):c.*1608C>T rs1840094081
NM_004273.5(CHST3):c.*2178G>T rs886047174
NM_004273.5(CHST3):c.*2352G>T rs544408735
NM_004273.5(CHST3):c.*238G>A rs543236876
NM_004273.5(CHST3):c.*2484A>G rs1840104088
NM_004273.5(CHST3):c.*2656A>G rs886047177
NM_004273.5(CHST3):c.*2717C>T rs555301573
NM_004273.5(CHST3):c.*2810C>A rs1840107728
NM_004273.5(CHST3):c.*3167G>A rs886047179
NM_004273.5(CHST3):c.*3384G>A rs886047180
NM_004273.5(CHST3):c.*3542A>G rs1840115763
NM_004273.5(CHST3):c.*3633C>T rs1840116651
NM_004273.5(CHST3):c.*3706G>A rs1471803578
NM_004273.5(CHST3):c.*3877A>G rs1840120030
NM_004273.5(CHST3):c.*3961T>C rs1840121287
NM_004273.5(CHST3):c.*4108G>A rs1840122795
NM_004273.5(CHST3):c.*4265T>G rs1840124387
NM_004273.5(CHST3):c.*4580G>A rs1237981753
NM_004273.5(CHST3):c.*4609G>A rs552018988
NM_004273.5(CHST3):c.*4820C>T rs886047183
NM_004273.5(CHST3):c.*4886G>C rs761110067
NM_004273.5(CHST3):c.*57G>T rs760264135
NM_004273.5(CHST3):c.*66G>T rs55939908
NM_004273.5(CHST3):c.*710G>T rs190298233
NM_004273.5(CHST3):c.*786G>C rs906037991
NM_004273.5(CHST3):c.*900C>T rs1840084420
NM_004273.5(CHST3):c.*922C>T rs886047164
NM_004273.5(CHST3):c.*969A>C rs571247438
NM_004273.5(CHST3):c.-108+6T>G rs886047159
NM_004273.5(CHST3):c.-164C>T rs1335747560
NM_004273.5(CHST3):c.100G>A (p.Val34Ile)
NM_004273.5(CHST3):c.1036G>A (p.Glu346Lys)
NM_004273.5(CHST3):c.1042A>C (p.Ile348Leu) rs2131776087
NM_004273.5(CHST3):c.1052C>A (p.Ser351Tyr) rs1057520111
NM_004273.5(CHST3):c.1058A>C (p.Glu353Ala) rs2131776149
NM_004273.5(CHST3):c.1109G>A (p.Arg370His) rs1355385307
NM_004273.5(CHST3):c.1109G>C (p.Arg370Pro) rs1355385307
NM_004273.5(CHST3):c.1151A>G (p.Glu384Gly)
NM_004273.5(CHST3):c.1165G>A (p.Ala389Thr)
NM_004273.5(CHST3):c.1169G>A (p.Gly390Asp)
NM_004273.5(CHST3):c.11G>A (p.Gly4Glu) rs1840033319
NM_004273.5(CHST3):c.1204C>G (p.Gln402Glu)
NM_004273.5(CHST3):c.1264T>C (p.Ser422Pro)
NM_004273.5(CHST3):c.1276G>A (p.Glu426Lys) rs1223108562
NM_004273.5(CHST3):c.1304A>G (p.Lys435Arg)
NM_004273.5(CHST3):c.1318_1327del (p.Val440fs)
NM_004273.5(CHST3):c.1367C>A (p.Ala456Glu)
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.1394G>A (p.Arg465His) rs569940449
NM_004273.5(CHST3):c.1420G>A (p.Gly474Ser)
NM_004273.5(CHST3):c.162G>C (p.Gln54His)
NM_004273.5(CHST3):c.195C>T (p.Thr65=) rs759935618
NM_004273.5(CHST3):c.196G>A (p.Asp66Asn) rs964738146
NM_004273.5(CHST3):c.19T>A (p.Leu7Met) rs2131772503
NM_004273.5(CHST3):c.268C>T (p.Leu90Phe)
NM_004273.5(CHST3):c.296T>C (p.Leu99Ser)
NM_004273.5(CHST3):c.2T>C (p.Met1Thr)
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.307G>A (p.Val103Met)
NM_004273.5(CHST3):c.316G>A (p.Ala106Thr)
NM_004273.5(CHST3):c.322G>A (p.Glu108Lys)
NM_004273.5(CHST3):c.328G>A (p.Ala110Thr)
NM_004273.5(CHST3):c.347A>G (p.Glu116Gly) rs2131774439
NM_004273.5(CHST3):c.34C>T (p.Arg12Trp)
NM_004273.5(CHST3):c.368C>T (p.Pro123Leu)
NM_004273.5(CHST3):c.377C>A (p.Pro126Gln) rs371091098
NM_004273.5(CHST3):c.377C>T (p.Pro126Leu)
NM_004273.5(CHST3):c.37G>A (p.Asp13Asn)
NM_004273.5(CHST3):c.386C>A (p.Ala129Glu)
NM_004273.5(CHST3):c.386C>T (p.Ala129Val)
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.395G>A (p.Arg132Gln)
NM_004273.5(CHST3):c.422C>T (p.Thr141Met) rs267606735
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) rs1360950889
NM_004273.5(CHST3):c.434C>T (p.Ser145Phe)
NM_004273.5(CHST3):c.442G>T (p.Val148Leu)
NM_004273.5(CHST3):c.445G>A (p.Gly149Ser)
NM_004273.5(CHST3):c.449A>C (p.Glu150Ala) rs1840053078
NM_004273.5(CHST3):c.467G>A (p.Gly156Asp)
NM_004273.5(CHST3):c.469A>G (p.Asn157Asp)
NM_004273.5(CHST3):c.505G>A (p.Glu169Lys)
NM_004273.5(CHST3):c.512_513del (p.Thr171fs) rs1564532120
NM_004273.5(CHST3):c.527C>T (p.Pro176Leu)
NM_004273.5(CHST3):c.530G>C (p.Gly177Ala)
NM_004273.5(CHST3):c.535G>A (p.Ala179Thr)
NM_004273.5(CHST3):c.571G>A (p.Val191Met) rs774652828
NM_004273.5(CHST3):c.582G>C (p.Gln194His)
NM_004273.5(CHST3):c.582G>T (p.Gln194His) rs759873741
NM_004273.5(CHST3):c.597C>A (p.Asp199Glu)
NM_004273.5(CHST3):c.613C>T (p.His205Tyr)
NM_004273.5(CHST3):c.634G>A (p.Glu212Lys) rs371650865
NM_004273.5(CHST3):c.635A>T (p.Glu212Val) rs1840057080
NM_004273.5(CHST3):c.677G>T (p.Arg226Leu) rs1287871626
NM_004273.5(CHST3):c.680C>G (p.Ser227Cys) rs1554817549
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004273.5(CHST3):c.697G>A (p.Val233Ile)
NM_004273.5(CHST3):c.726C>A (p.Phe242Leu) rs764522356
NM_004273.5(CHST3):c.773C>G (p.Thr258Arg) rs1840059581
NM_004273.5(CHST3):c.791G>A (p.Cys264Tyr)
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) rs199515173
NM_004273.5(CHST3):c.808dup (p.Met270fs)
NM_004273.5(CHST3):c.812C>T (p.Ala271Val)
NM_004273.5(CHST3):c.845T>A (p.Phe282Tyr)
NM_004273.5(CHST3):c.84_98dup (p.Val32_Ile33insMetValPheValVal)
NM_004273.5(CHST3):c.85G>T (p.Val29Phe) rs751067074
NM_004273.5(CHST3):c.874C>G (p.Leu292Val) rs1474879888
NM_004273.5(CHST3):c.877G>T (p.Asp293Tyr)
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) rs762224143
NM_004273.5(CHST3):c.901C>T (p.Arg301Cys)
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_004273.5(CHST3):c.916G>A (p.Val306Met) rs1564532505
NM_004273.5(CHST3):c.928C>A (p.Arg310Ser)
NM_004273.5(CHST3):c.929G>C (p.Arg310Pro)
NM_004273.5(CHST3):c.947del (p.Gly316fs)
NM_004273.5(CHST3):c.976G>A (p.Asp326Asn)
NM_004282.4(BAG2):c.*2973T>C rs1170431413
NM_004282.4(BAG2):c.*4454T>C rs368441472
NM_004282.4(BAG2):c.*4735A>C rs931746824
NM_004282.4(BAG2):c.*4777T>C rs1764724130
NM_004282.4(BAG2):c.*5084TGAT[3] rs139778770
NM_004282.4(BAG2):c.*5219A>G rs1764744688
NM_004282.4(BAG2):c.*5421T>C rs1764753710
NM_004282.4(BAG2):c.*5536A>C rs886061652
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro) rs1179677806
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu) rs2053545106
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu) rs2053544204
NM_004380.3(CREBBP):c.1216+4A>G
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
NM_004380.3(CREBBP):c.1577A>G (p.Asn526Ser)
NM_004380.3(CREBBP):c.1582C>G (p.Pro528Ala)
NM_004380.3(CREBBP):c.1594C>A (p.Pro532Thr)
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
NM_004380.3(CREBBP):c.1655C>T (p.Pro552Leu)
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
NM_004380.3(CREBBP):c.1678C>A (p.Pro560Thr)
NM_004380.3(CREBBP):c.1679C>A (p.Pro560Gln)
NM_004380.3(CREBBP):c.1690G>A (p.Asp564Asn)
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
NM_004380.3(CREBBP):c.1941+4G>C
NM_004380.3(CREBBP):c.1941+8G>A rs761673254
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
NM_004380.3(CREBBP):c.2113+3A>G
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)
NM_004380.3(CREBBP):c.2179A>G (p.Met727Val)
NM_004380.3(CREBBP):c.2181G>T (p.Met727Ile)
NM_004380.3(CREBBP):c.2194G>A (p.Val732Ile)
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004380.3(CREBBP):c.2323A>G (p.Met775Val) rs990281677
NM_004380.3(CREBBP):c.2339C>A (p.Thr780Asn)
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
NM_004380.3(CREBBP):c.2347A>T (p.Met783Leu)
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
NM_004380.3(CREBBP):c.2349G>C (p.Met783Ile)
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys) rs1318683084
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys) rs1596895058
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr) rs1596895058
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg) rs1596895058
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2463+4C>T
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile) rs759041100
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser) rs2052990480
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro) rs587783472
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del) rs2141199443
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
NM_004380.3(CREBBP):c.2881-13G>A rs751913060
NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr) rs147795744
NM_004380.3(CREBBP):c.2917C>A (p.Pro973Thr)
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
NM_004380.3(CREBBP):c.3185A>C (p.Glu1062Ala)
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
NM_004380.3(CREBBP):c.318G>T (p.Gln106His)
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys) rs886041006
NM_004380.3(CREBBP):c.3208A>C (p.Thr1070Pro)
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg) rs766844540
NM_004380.3(CREBBP):c.3212C>T (p.Ala1071Val)
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe) rs1476678901
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn) rs2141181124
NM_004380.3(CREBBP):c.3250+4G>A
NM_004380.3(CREBBP):c.3250A>C (p.Ile1084Leu)
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
NM_004380.3(CREBBP):c.326G>A (p.Ser109Asn)
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr) rs2151383193
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
NM_004380.3(CREBBP):c.363C>A (p.Ser121Arg)
NM_004380.3(CREBBP):c.3667C>T (p.Arg1223Cys)
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr) rs2052609627
NM_004380.3(CREBBP):c.3698+5G>T rs1596852349
NM_004380.3(CREBBP):c.3698+6C>T
NM_004380.3(CREBBP):c.3699-11C>A
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
NM_004380.3(CREBBP):c.37A>C (p.Lys13Gln) rs587783484
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg) rs749189606
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
NM_004380.3(CREBBP):c.3839T>G (p.Phe1280Cys) rs2151355973
NM_004380.3(CREBBP):c.3841G>T (p.Val1281Phe)
NM_004380.3(CREBBP):c.3844G>A (p.Asp1282Asn)
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His) rs2052315739
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser) rs2151355349
NM_004380.3(CREBBP):c.3914+17_3914+32del
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala) rs2151354200
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile) rs760292945
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg) rs587783487
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp) rs2151341032
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly) rs794727401
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
NM_004380.3(CREBBP):c.4394+3G>A
NM_004380.3(CREBBP):c.4394+3_4394+7del rs1596810185
NM_004380.3(CREBBP):c.4394+5G>C
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe) rs1555473126
NM_004380.3(CREBBP):c.4438GAT[1] (p.Asp1481del)
NM_004380.3(CREBBP):c.4465C>A (p.Pro1489Thr)
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala) rs1303444757
NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)
NM_004380.3(CREBBP):c.44C>G (p.Ala15Gly)
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met) rs1596805575
NM_004380.3(CREBBP):c.4561-3C>A
NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
NM_004380.3(CREBBP):c.4728+4C>G
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser) rs2151319330
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr) rs2151316910
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu) rs1275659601
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
NM_004380.3(CREBBP):c.5172+4G>A
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln) rs2151311865
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) rs1448187215
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
NM_004380.3(CREBBP):c.5540A>G (p.Lys1847Arg)
NM_004380.3(CREBBP):c.5549T>C (p.Leu1850Pro)
NM_004380.3(CREBBP):c.5557C>G (p.Gln1853Glu)
NM_004380.3(CREBBP):c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro) rs770325046
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro) rs2051850835
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
NM_004380.3(CREBBP):c.5695A>G (p.Thr1899Ala)
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
NM_004380.3(CREBBP):c.5796_5804del (p.Val1933_Thr1935del)
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile) rs2151308115
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr) rs1231016252
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) rs2151307787
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val) rs986406817
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
NM_004380.3(CREBBP):c.5962A>G (p.Met1988Val)
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) rs777318563
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser) rs1282498604
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg) rs751739281
NM_004380.3(CREBBP):c.6050C>T (p.Pro2017Leu)
NM_004380.3(CREBBP):c.6055G>A (p.Gly2019Arg)
NM_004380.3(CREBBP):c.6071C>G (p.Ala2024Gly)
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
NM_004380.3(CREBBP):c.61G>A (p.Gly21Ser)
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup) rs772003652
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
NM_004380.3(CREBBP):c.6398T>C (p.Met2133Thr)
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser) rs773348705
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile) rs1358192617
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) rs2151303211
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6603_6620del (p.Gln2211_Gln2216del) rs2151302749
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621ACA[1] (p.Gln2216del)
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del) rs778507028
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.6625C>G (p.Gln2209Glu)
NM_004380.3(CREBBP):c.6633_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGln)
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6646C>A (p.Gln2216Lys)
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
NM_004380.3(CREBBP):c.6673A>C (p.Met2225Leu)
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
NM_004380.3(CREBBP):c.6680G>A (p.Gly2227Glu)
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala) rs2054806972
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup) rs753283086
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu) rs1191357764
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val) rs1306100144
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg) rs2054805900
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del) rs766383937
NM_004380.3(CREBBP):c.70G>A (p.Ala24Thr)
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
NM_004380.3(CREBBP):c.719C>T (p.Ala240Val)
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) rs1239213391
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
NM_004380.3(CREBBP):c.907A>G (p.Met303Val) rs1567331335
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
NM_004380.3(CREBBP):c.975+3A>G
NM_004608.4(TBX6):c.1174G>T (p.Gly392Trp) rs773515679
NM_004608.4(TBX6):c.1277G>T (p.Gly426Val) rs764233509
NM_004608.4(TBX6):c.1278C>T (p.Gly426=) rs577918214
NM_004608.4(TBX6):c.373C>T (p.Arg125Ter)
NM_004608.4(TBX6):c.448C>A (p.Arg150Ser)
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln) rs1554670417
NM_004629.2(FANCG):c.*77C>T rs1829028329
NM_004629.2(FANCG):c.-182del rs886063899
NM_004629.2(FANCG):c.1002A>T (p.Leu334=) rs984958735
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
NM_004629.2(FANCG):c.1017T>A (p.His339Gln) rs764465471
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr) rs2131055383
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu) rs1829085768
NM_004629.2(FANCG):c.1032C>A (p.Ser344Arg)
NM_004629.2(FANCG):c.1045A>T (p.Ile349Leu)
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_004629.2(FANCG):c.1076+3_1076+7del rs780410457
NM_004629.2(FANCG):c.1076+4A>G rs1829084813
NM_004629.2(FANCG):c.107C>T (p.Thr36Ile) rs1587144550
NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu) rs1276088946
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly) rs1829076408
NM_004629.2(FANCG):c.1087G>A (p.Ala363Thr)
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu) rs1326382443
NM_004629.2(FANCG):c.1100A>C (p.Tyr367Ser)
NM_004629.2(FANCG):c.1113G>A (p.Leu371=) rs1829075976
NM_004629.2(FANCG):c.1125G>A (p.Leu375=)
NM_004629.2(FANCG):c.1126G>T (p.Asp376Tyr) rs1587140699
NM_004629.2(FANCG):c.1129A>G (p.Ser377Gly)
NM_004629.2(FANCG):c.1143+4G>A rs2131054635
NM_004629.2(FANCG):c.1143+5G>C rs778328620
NM_004629.2(FANCG):c.1144-3C>T
NM_004629.2(FANCG):c.1152A>C (p.Pro384=) rs1487531031
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr) rs1288516919
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala) rs1288516919
NM_004629.2(FANCG):c.1155_1163del (p.Ser387_Pro389del) rs1554670228
NM_004629.2(FANCG):c.1156C>A (p.Pro386Thr)
NM_004629.2(FANCG):c.1157C>A (p.Pro386His) rs141147618
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1161_1163dup (p.Pro389_Gly390insPro)
NM_004629.2(FANCG):c.1199C>T (p.Ala400Val)
NM_004629.2(FANCG):c.119A>C (p.Gln40Pro)
NM_004629.2(FANCG):c.1228G>A (p.Ala410Thr) rs1829068737
NM_004629.2(FANCG):c.123G>C (p.Gln41His)
NM_004629.2(FANCG):c.1277C>G (p.Ser426Cys)
NM_004629.2(FANCG):c.1292T>C (p.Met431Thr)
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser) rs1829066600
NM_004629.2(FANCG):c.1377G>A (p.Gln459=) rs1587140019
NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp) rs2131053797
NM_004629.2(FANCG):c.1400G>A (p.Gly467Asp)
NM_004629.2(FANCG):c.1403C>T (p.Ala468Val) rs1829065605
NM_004629.2(FANCG):c.1408A>G (p.Lys470Glu)
NM_004629.2(FANCG):c.1433+5G>T
NM_004629.2(FANCG):c.1437C>G (p.Cys479Trp) rs904322133
NM_004629.2(FANCG):c.1441G>A (p.Glu481Lys)
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro) rs1829061760
NM_004629.2(FANCG):c.1460C>T (p.Thr487Ile) rs2131053434
NM_004629.2(FANCG):c.1462C>T (p.Pro488Ser)
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln) rs1018027137
NM_004629.2(FANCG):c.1480+5T>C rs1554670176
NM_004629.2(FANCG):c.1480+5T>G rs1554670176
NM_004629.2(FANCG):c.1481G>T (p.Gly494Val) rs770011456
NM_004629.2(FANCG):c.1495T>G (p.Cys499Gly)
NM_004629.2(FANCG):c.1498G>A (p.Glu500Lys)
NM_004629.2(FANCG):c.1505G>T (p.Gly502Val)
NM_004629.2(FANCG):c.1519G>T (p.Ala507Ser)
NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
NM_004629.2(FANCG):c.1546G>A (p.Ala516Thr)
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn) rs1209146448
NM_004629.2(FANCG):c.1582G>A (p.Gly528Ser)
NM_004629.2(FANCG):c.1586A>G (p.Gln529Arg)
NM_004629.2(FANCG):c.1592C>T (p.Thr531Ile)
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1633C>G (p.Pro545Ala) rs1315654777
NM_004629.2(FANCG):c.1635A>G (p.Pro545=)
NM_004629.2(FANCG):c.1636+1G>A rs1829054352
NM_004629.2(FANCG):c.1636+5G>A rs748961871
NM_004629.2(FANCG):c.1636+7_1636+8delinsGA
NM_004629.2(FANCG):c.1642C>G (p.Arg548Gly)
NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln) rs1587138702
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala) rs1255677446
NM_004629.2(FANCG):c.1651T>C (p.Tyr551His)
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr) rs1251259584
NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe) rs2131051917
NM_004629.2(FANCG):c.1668G>T (p.Gln556His) rs1829042320
NM_004629.2(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met) rs200466062
NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)
NM_004629.2(FANCG):c.1745A>G (p.His582Arg) rs1196002404
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) rs786204205
NM_004629.2(FANCG):c.175+4G>C rs1060501869
NM_004629.2(FANCG):c.1760+4A>T
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His) rs768325047
NM_004629.2(FANCG):c.1777C>T (p.Leu593=) rs746613103
NM_004629.2(FANCG):c.1782A>C (p.Glu594Asp)
NM_004629.2(FANCG):c.1785C>G (p.Ser595Arg)
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe) rs1026058105
NM_004629.2(FANCG):c.1793G>A (p.Ser598Asn)
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
NM_004629.2(FANCG):c.179del (p.Leu60fs) rs1829130643
NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)
NM_004629.2(FANCG):c.1810G>C (p.Asp604His)
NM_004629.2(FANCG):c.1813C>T (p.Arg605Cys)
NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)
NM_004629.2(FANCG):c.1825del (p.Glu610fs)
NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs) rs532302967
NM_004629.2(FANCG):c.193C>T (p.Pro65Ser) rs2131059151
NM_004629.2(FANCG):c.244G>A (p.Ala82Thr)
NM_004629.2(FANCG):c.247del (p.Ser83fs) rs1829129667
NM_004629.2(FANCG):c.263T>G (p.Phe88Cys)
NM_004629.2(FANCG):c.292C>A (p.Arg98=) rs532525154
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu) rs372854981
NM_004629.2(FANCG):c.308-12T>G
NM_004629.2(FANCG):c.308-25_308-12del rs1563987234
NM_004629.2(FANCG):c.322G>A (p.Glu108Lys)
NM_004629.2(FANCG):c.335_352del (p.Pro112_Gly117del)
NM_004629.2(FANCG):c.337A>G (p.Arg113Gly) rs2131058590
NM_004629.2(FANCG):c.355A>C (p.Arg119=)
NM_004629.2(FANCG):c.403C>A (p.Leu135Met)
NM_004629.2(FANCG):c.410C>G (p.Ser137Cys) rs1203036492
NM_004629.2(FANCG):c.412G>C (p.Ala138Pro)
NM_004629.2(FANCG):c.420C>A (p.His140Gln)
NM_004629.2(FANCG):c.431G>C (p.Gly144Ala) rs767880403
NM_004629.2(FANCG):c.443C>T (p.Ala148Val) rs1829121038
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg) rs202114813
NM_004629.2(FANCG):c.486A>T (p.Leu162Phe) rs779677132
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
NM_004629.2(FANCG):c.510+5T>C rs921564097
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.517G>A (p.Ala173Thr)
NM_004629.2(FANCG):c.525G>C (p.Lys175Asn)
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys) rs1829144761
NM_004629.2(FANCG):c.542_556del (p.Leu181_Ser185del)
NM_004629.2(FANCG):c.54A>C (p.Glu18Asp) rs1563987701
NM_004629.2(FANCG):c.560C>A (p.Pro187Gln)
NM_004629.2(FANCG):c.563C>T (p.Ala188Val)
NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser) rs1554670412
NM_004629.2(FANCG):c.587C>T (p.Thr196Ile)
NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)
NM_004629.2(FANCG):c.616G>A (p.Val206Ile) rs768648609
NM_004629.2(FANCG):c.626C>T (p.Thr209Ile) rs1382724792
NM_004629.2(FANCG):c.633T>A (p.Phe211Leu)
NM_004629.2(FANCG):c.63C>A (p.Asp21Glu)
NM_004629.2(FANCG):c.647-3C>T rs1311964497
NM_004629.2(FANCG):c.64C>T (p.Arg22Trp)
NM_004629.2(FANCG):c.65G>A (p.Arg22Gln) rs1829144428
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn) rs1829099355
NM_004629.2(FANCG):c.665C>T (p.Thr222Ile)
NM_004629.2(FANCG):c.690C>A (p.Ser230Arg) rs1333976481
NM_004629.2(FANCG):c.706G>A (p.Ala236Thr) rs2131056564
NM_004629.2(FANCG):c.70G>C (p.Val24Leu)
NM_004629.2(FANCG):c.714C>T (p.Gly238=)
NM_004629.2(FANCG):c.725G>A (p.Arg242Gln)
NM_004629.2(FANCG):c.736G>T (p.Val246Phe)
NM_004629.2(FANCG):c.743T>C (p.Val248Ala) rs1221668009
NM_004629.2(FANCG):c.763T>C (p.Cys255Arg)
NM_004629.2(FANCG):c.764G>A (p.Cys255Tyr)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu) rs149721361
NM_004629.2(FANCG):c.801G>C (p.Leu267Phe) rs1482595465
NM_004629.2(FANCG):c.807G>C (p.Leu269Phe)
NM_004629.2(FANCG):c.833C>T (p.Ala278Val) rs771395169
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_004629.2(FANCG):c.844C>T (p.Pro282Ser) rs770009374
NM_004629.2(FANCG):c.865C>A (p.Leu289Ile)
NM_004629.2(FANCG):c.889A>G (p.Thr297Ala)
NM_004629.2(FANCG):c.895G>A (p.Glu299Lys)
NM_004629.2(FANCG):c.899del (p.Leu300fs) rs1829092191
NM_004629.2(FANCG):c.906_907delinsAT (p.Ser302Arg)
NM_004629.2(FANCG):c.910G>C (p.Glu304Gln)
NM_004629.2(FANCG):c.916C>A (p.Leu306Ile)
NM_004629.2(FANCG):c.917T>C (p.Leu306Pro)
NM_004629.2(FANCG):c.920T>G (p.Val307Gly) rs774982952
NM_004629.2(FANCG):c.955C>A (p.Pro319Thr)
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004629.2(FANCG):c.965T>G (p.Leu322Arg)
NM_004629.2(FANCG):c.978A>G (p.Glu326=)
NM_004655.4(AXIN2):c.1972A>T (p.Ser658Cys) rs1567754376
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met) rs757666530
NM_004793.4(LONP1):c.2812C>T (p.His938Tyr)
NM_004793.4(LONP1):c.488A>C (p.Tyr163Ser) rs2055279214
NM_004793.4(LONP1):c.64_90del (p.Pro22_Arg30del) rs1355376280
NM_004793.4(LONP1):c.889G>A (p.Val297Met) rs1599470758
NM_004836.6(EIF2AK3):c.-195G>T rs886056421
NM_004836.7(EIF2AK3):c.*104A>C rs1474906844
NM_004836.7(EIF2AK3):c.*175A>T rs886056415
NM_004836.7(EIF2AK3):c.*286G>C rs886056413
NM_004836.7(EIF2AK3):c.*300TA[7] rs767645334
NM_004836.7(EIF2AK3):c.*340A>G rs1376568962
NM_004836.7(EIF2AK3):c.*408T>G rs148457589
NM_004836.7(EIF2AK3):c.*459G>T rs886056412
NM_004836.7(EIF2AK3):c.*864ATGTTT[1] rs565147927
NM_004836.7(EIF2AK3):c.*894AATC[1] rs886056411
NM_004836.7(EIF2AK3):c.-10C>T rs1291618208
NM_004836.7(EIF2AK3):c.-162G>A rs886056420
NM_004836.7(EIF2AK3):c.101G>A (p.Arg34His) rs1675887917
NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del) rs747505731
NM_004836.7(EIF2AK3):c.1092T>A (p.Asn364Lys) rs886056417
NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val) rs947983532
NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg) rs1674645367
NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly) rs770192517
NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val) rs540704378
NM_004836.7(EIF2AK3):c.2092C>A (p.Arg698Ser) rs189064501
NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys) rs189064501
NM_004836.7(EIF2AK3):c.212C>T (p.Thr71Ile) rs1675883639
NM_004836.7(EIF2AK3):c.2135T>C (p.Ile712Thr) rs760433148
NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys) rs2104411903
NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg) rs369837691
NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del) rs758593623
NM_004836.7(EIF2AK3):c.2736C>T (p.Ser912=) rs886056416
NM_004836.7(EIF2AK3):c.2801T>G (p.Met934Arg) rs1674406193
NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser) rs755369984
NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile)
NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys) rs1441763585
NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val) rs1425626815
NM_004836.7(EIF2AK3):c.53T>G (p.Leu18Arg) rs1045275032
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) rs529920914
NM_004991.4(MECOM):c.1256C>T (p.Ser419Phe)
NM_004991.4(MECOM):c.1268A>C (p.His423Pro)
NM_004991.4(MECOM):c.1384G>T (p.Ala462Ser)
NM_004991.4(MECOM):c.1630G>T (p.Ala544Ser) rs2149079059
NM_004991.4(MECOM):c.2315C>T (p.Pro772Leu)
NM_004991.4(MECOM):c.2327G>A (p.Ser776Asn)
NM_004991.4(MECOM):c.2577+4A>T
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_004991.4(MECOM):c.2873_2875del (p.Phe958_Ser959delinsCys) rs2148891166
NM_004991.4(MECOM):c.2889C>G (p.Asn963Lys)
NM_004991.4(MECOM):c.3065C>T (p.Ala1022Val)
NM_004991.4(MECOM):c.405C>A (p.Phe135Leu)
NM_004991.4(MECOM):c.695G>A (p.Cys232Tyr) rs2149176584
NM_005032.7(PLS3):c.188A>G (p.Asp63Gly) rs987712053
NM_005032.7(PLS3):c.347G>A (p.Gly116Glu) rs2147533013
NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)
NM_005032.7(PLS3):c.892G>A (p.Asp298Asn) rs202076515
NM_005032.7(PLS3):c.89G>A (p.Gly30Glu) rs2074663738
NM_005105.5(RBM8A):c.404A>G (p.Asn135Ser)
NM_005105.5(RBM8A):c.479G>A (p.Arg160Lys) rs2101877556
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile) rs755219554
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys) rs145851520
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr) rs201410515
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) rs2032238318
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly) rs374470560
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe) rs1596616623
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys)
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del) rs2141607630
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) rs765254949
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly) rs147105770
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) rs1336284412
NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu) rs2031938186
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=) rs766395322
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp) rs766395322
NM_005236.3(ERCC4):c.187A>C (p.Asn63His) rs1203098300
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu) rs770771750
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
NM_005236.3(ERCC4):c.1A>G (p.Met1Val)
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) rs2141619663
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
NM_005236.3(ERCC4):c.207+5G>C rs766355378
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.208-3T>G
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val) rs774900622
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val) rs2032542117
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn) rs1442567731
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr) rs2141619950
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu) rs2141939855
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val) rs754771000
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) rs756050702
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His) rs748870665
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) rs2032550979
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu) rs1303709169
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val) rs765253522
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe) rs2141939932
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr) rs2032559742
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met) rs759042927
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr) rs2032561804
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val) rs766946690
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) rs2141621448
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro) rs1214498950
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) rs2032565777
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser) rs374243778
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys) rs1307031587
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser) rs181993439
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu) rs2032078220
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp) rs2032078374
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln) rs373789508
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.514G>C (p.Asp172His) rs1405781900
NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser)
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu) rs2032105702
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) rs2032106630
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser) rs962536419
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) rs143479220
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu) rs143479220
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) rs2141948413
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys) rs996851583
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser) rs772385411
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
NM_005349.4(RBPJ):c.20C>A (p.Ser7Ter)
NM_005430.4(WNT1):c.1060del (p.His354fs) rs1233798164
NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) rs1435433748
NM_005430.4(WNT1):c.23C>T (p.Pro8Leu) rs1219729580
NM_005430.4(WNT1):c.501G>C (p.Trp167Cys) rs1592257435
NM_005430.4(WNT1):c.625-5C>T rs1207715560
NM_005430.4(WNT1):c.937C>A (p.Arg313Ser) rs1162097828
NM_005430.4(WNT1):c.989G>A (p.Cys330Tyr) rs1565722031
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) rs946075316
NM_005431.2(XRCC2):c.756_758del (p.Gln252_Phe253delinsHis)
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) rs771671971
NM_005445.3(SMC3):c.-136A>G rs994198170
NM_005445.4(SMC3):c.*12T>A rs1861435243
NM_005445.4(SMC3):c.*298del rs886046697
NM_005445.4(SMC3):c.*36A>G rs1861435668
NM_005445.4(SMC3):c.*50C>G rs368890227
NM_005445.4(SMC3):c.*77C>T rs886046696
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly)
NM_005445.4(SMC3):c.1229A>G (p.Lys410Arg)
NM_005445.4(SMC3):c.125T>C (p.Phe42Ser) rs1554881901
NM_005445.4(SMC3):c.130+11C>G rs1860907572
NM_005445.4(SMC3):c.131-3C>T
NM_005445.4(SMC3):c.1330G>A (p.Val444Ile) rs1861177028
NM_005445.4(SMC3):c.1410-11_1410-6del
NM_005445.4(SMC3):c.1445C>A (p.Ala482Glu)
NM_005445.4(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005445.4(SMC3):c.1480_1481dup (p.Gln494fs)
NM_005445.4(SMC3):c.15+5_15+12del
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
NM_005445.4(SMC3):c.1509+4G>C
NM_005445.4(SMC3):c.1509+5G>C
NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser)
NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser) rs768778247
NM_005445.4(SMC3):c.1692T>A (p.Asp564Glu)
NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr)
NM_005445.4(SMC3):c.1783G>A (p.Val595Ile)
NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys) rs780811321
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005445.4(SMC3):c.1861A>T (p.Lys621Ter)
NM_005445.4(SMC3):c.2018A>G (p.Lys673Arg)
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln) rs2134745310
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.2085G>A (p.Lys695=) rs886046694
NM_005445.4(SMC3):c.2099T>C (p.Leu700Pro) rs2134745404
NM_005445.4(SMC3):c.2102G>A (p.Arg701His)
NM_005445.4(SMC3):c.2132T>C (p.Ile711Thr) rs1590567899
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala) rs2134747764
NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu) rs76568464
NM_005445.4(SMC3):c.2268+5G>C
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
NM_005445.4(SMC3):c.2406T>C (p.Asp802=) rs934660926
NM_005445.4(SMC3):c.2427+13C>T rs190798929
NM_005445.4(SMC3):c.2464G>T (p.Glu822Ter) rs2134750874
NM_005445.4(SMC3):c.2472T>C (p.Ile824=) rs1861369074
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)
NM_005445.4(SMC3):c.2535+28dup rs397847637
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
NM_005445.4(SMC3):c.2569A>G (p.Thr857Ala)
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly)
NM_005445.4(SMC3):c.2653A>C (p.Asn885His)
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg) rs112281749
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu)
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln) rs2134752688
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.2892+9T>C rs1861393233
NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)
NM_005445.4(SMC3):c.2964T>C (p.Asp988=) rs111611128
NM_005445.4(SMC3):c.3105+3A>T
NM_005445.4(SMC3):c.3147T>C (p.Pro1049=) rs1861402400
NM_005445.4(SMC3):c.3168G>A (p.Val1056=)
NM_005445.4(SMC3):c.3183T>A (p.Asp1061Glu)
NM_005445.4(SMC3):c.3212_3214del (p.Gly1071del)
NM_005445.4(SMC3):c.3231T>A (p.Ser1077Arg)
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
NM_005445.4(SMC3):c.3298-17_3298-13del
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly) rs1861413861
NM_005445.4(SMC3):c.351-4A>G
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg)
NM_005445.4(SMC3):c.371T>G (p.Leu124Arg) rs1590553017
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly) rs113411202
NM_005445.4(SMC3):c.386G>T (p.Gly129Val)
NM_005445.4(SMC3):c.424G>A (p.Gly142Arg) rs1554882316
NM_005445.4(SMC3):c.429+16G>T
NM_005445.4(SMC3):c.429+9A>G
NM_005445.4(SMC3):c.430-3T>C
NM_005445.4(SMC3):c.538A>C (p.Lys180Gln)
NM_005445.4(SMC3):c.547+6A>G
NM_005445.4(SMC3):c.624A>C (p.Glu208Asp)
NM_005445.4(SMC3):c.661C>T (p.Arg221Ter) rs1564789897
NM_005445.4(SMC3):c.662G>A (p.Arg221Gln) rs1861038686
NM_005445.4(SMC3):c.723+4A>T rs886046693
NM_005445.4(SMC3):c.723+6A>G
NM_005445.4(SMC3):c.786T>A (p.Asp262Glu)
NM_005445.4(SMC3):c.7A>G (p.Ile3Val) rs1860796091
NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)
NM_005445.4(SMC3):c.913T>G (p.Leu305Val)
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg) rs1861062802
NM_005445.4(SMC3):c.993G>C (p.Gln331His)
NM_005499.3(UBA2):c.364C>G (p.Arg122Gly) rs1599889628
NM_005515.4(MNX1):c.1055G>C (p.Arg352Thr)
NM_005515.4(MNX1):c.1074GGACGA[2] (p.358ED[2]) rs763608839
NM_005515.4(MNX1):c.1081GACGAGGAC[1] (p.361DED[1]) rs762400153
NM_005515.4(MNX1):c.1136C>T (p.Ala379Val)
NM_005515.4(MNX1):c.132CGG[8] (p.Gly47_Gly49dup) rs781217883
NM_005515.4(MNX1):c.145G>A (p.Gly49Arg)
NM_005515.4(MNX1):c.355C>A (p.Pro119Thr)
NM_005515.4(MNX1):c.375CGC[16] (p.Ala128_Ala134dup) rs548755417
NM_005515.4(MNX1):c.504GGC[6] (p.Ala174dup) rs748208450
NM_005515.4(MNX1):c.808A>C (p.Lys270Gln) rs1191651587
NM_005515.4(MNX1):c.852G>A (p.Gln284=)
NM_005523.6(HOXA11):c.451C>A (p.Pro151Thr)
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys) rs570850437
NM_005529.7(HSPG2):c.1012G>A (p.Ala338Thr) rs1641972004
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.10409G>A (p.Gly3470Glu) rs2152698051
NM_005529.7(HSPG2):c.10618G>A (p.Val3540Ile) rs372760688
NM_005529.7(HSPG2):c.10722dup (p.Pro3576fs) rs2152695644
NM_005529.7(HSPG2):c.10969C>A (p.Gln3657Lys) rs2098013447
NM_005529.7(HSPG2):c.11187G>A (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11353-13C>T rs765268891
NM_005529.7(HSPG2):c.11563-16G>A
NM_005529.7(HSPG2):c.11648C>G (p.Ser3883Trp) rs138145234
NM_005529.7(HSPG2):c.1175G>A (p.Ser392Asn) rs1217699227
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.11890G>A (p.Gly3964Arg)
NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn) rs1553171928
NM_005529.7(HSPG2):c.11946G>A (p.Leu3982=) rs2097992012
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.12143T>C (p.Leu4048Pro) rs1368598061
NM_005529.7(HSPG2):c.12533-15T>C rs2097983783
NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser) rs769986876
NM_005529.7(HSPG2):c.13101C>T (p.Gly4367=) rs1323835816
NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser) rs767431377
NM_005529.7(HSPG2):c.1376G>T (p.Gly459Val) rs886046044
NM_005529.7(HSPG2):c.1601G>A (p.Arg534His) rs138259006
NM_005529.7(HSPG2):c.1654+15G>A rs886046043
NM_005529.7(HSPG2):c.1707G>A (p.Thr569=) rs151214695
NM_005529.7(HSPG2):c.1870C>T (p.Arg624Cys) rs779022485
NM_005529.7(HSPG2):c.199+14C>T rs886046047
NM_005529.7(HSPG2):c.1A>G (p.Met1Val) rs2152809610
NM_005529.7(HSPG2):c.212G>A (p.Ser71Asn) rs781177979
NM_005529.7(HSPG2):c.2251C>T (p.Arg751Trp) rs192500073
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2860A>G (p.Ser954Gly) rs1641064668
NM_005529.7(HSPG2):c.2951T>A (p.Leu984His) rs776853465
NM_005529.7(HSPG2):c.3131C>T (p.Ala1044Val) rs886046040
NM_005529.7(HSPG2):c.3132C>G (p.Ala1044=) rs759433713
NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser) rs544172715
NM_005529.7(HSPG2):c.3183+8A>G rs886046039
NM_005529.7(HSPG2):c.3207G>A (p.Gly1069=) rs886046038
NM_005529.7(HSPG2):c.3302+15G>T rs376065244
NM_005529.7(HSPG2):c.3436C>T (p.Arg1146Cys) rs886046037
NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=) rs886046036
NM_005529.7(HSPG2):c.3656+4C>T rs1177290016
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg) rs747787010
NM_005529.7(HSPG2):c.4129C>T (p.Pro1377Ser)
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
NM_005529.7(HSPG2):c.4314+4A>T rs1553166653
NM_005529.7(HSPG2):c.4406G>A (p.Arg1469His) rs373234129
NM_005529.7(HSPG2):c.4638C>T (p.Pro1546=) rs777118903
NM_005529.7(HSPG2):c.467C>T (p.Ala156Val) rs771803144
NM_005529.7(HSPG2):c.4868+10C>G rs886046035
NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) rs745892835
NM_005529.7(HSPG2):c.5686A>C (p.Thr1896Pro) rs1192648239
NM_005529.7(HSPG2):c.5701+9G>A rs549778143
NM_005529.7(HSPG2):c.5747G>A (p.Gly1916Asp) rs868030362
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=) rs147669915
NM_005529.7(HSPG2):c.6029T>C (p.Leu2010Pro) rs886046034
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6307C>A (p.Arg2103=) rs755167311
NM_005529.7(HSPG2):c.6487G>T (p.Val2163Leu) rs777503522
NM_005529.7(HSPG2):c.6520G>A (p.Val2174Met) rs777069767
NM_005529.7(HSPG2):c.6545A>C (p.Gln2182Pro) rs1401615464
NM_005529.7(HSPG2):c.6640G>A (p.Gly2214Ser) rs1639002819
NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=) rs565594406
NM_005529.7(HSPG2):c.7159-9T>A rs886046032
NM_005529.7(HSPG2):c.7294+9C>A rs886046031
NM_005529.7(HSPG2):c.7347C>G (p.Ala2449=) rs765923626
NM_005529.7(HSPG2):c.7411C>T (p.His2471Tyr) rs886046030
NM_005529.7(HSPG2):c.7559T>C (p.Ile2520Thr) rs900344590
NM_005529.7(HSPG2):c.7684C>T (p.Pro2562Ser) rs755215244
NM_005529.7(HSPG2):c.7687C>T (p.His2563Tyr) rs1557709915
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.8026-10G>A rs377601366
NM_005529.7(HSPG2):c.8055A>G (p.Gln2685=) rs377715367
NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=) rs140067347
NM_005529.7(HSPG2):c.8224G>A (p.Glu2742Lys) rs886046029
NM_005529.7(HSPG2):c.828T>G (p.Leu276=) rs1642001864
NM_005529.7(HSPG2):c.8364G>A (p.Ser2788=) rs377366418
NM_005529.7(HSPG2):c.8458G>A (p.Val2820Ile) rs771648867
NM_005529.7(HSPG2):c.8514G>A (p.Val2838=) rs886046028
NM_005529.7(HSPG2):c.8609G>C (p.Arg2870Pro) rs111846397
NM_005529.7(HSPG2):c.8616+9G>C rs189754659
NM_005529.7(HSPG2):c.8971T>G (p.Cys2991Gly) rs745575586
NM_005529.7(HSPG2):c.9041G>T (p.Gly3014Val) rs1230028155
NM_005529.7(HSPG2):c.9300C>T (p.Ala3100=) rs2098048599
NM_005529.7(HSPG2):c.960C>T (p.Gly320=) rs886046046
NM_005529.7(HSPG2):c.9826T>C (p.Tyr3276His)
NM_005529.7(HSPG2):c.9890-7C>A rs377609659
NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup) rs1345312289
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005585.5(SMAD6):c.1016A>C (p.His339Pro) rs142278375
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter) rs200493039
NM_005585.5(SMAD6):c.1109A>G (p.Gln370Arg) rs1567115899
NM_005585.5(SMAD6):c.1304_1313dup (p.Phe439fs) rs1595805211
NM_005585.5(SMAD6):c.1339C>T (p.Gln447Ter) rs1595805270
NM_005585.5(SMAD6):c.1412G>A (p.Gly471Asp) rs1595805424
NM_005585.5(SMAD6):c.1460G>T (p.Trp487Leu) rs1894576455
NM_005585.5(SMAD6):c.442del (p.Ala148fs) rs1595756920
NM_005585.5(SMAD6):c.452_458del (p.Glu151fs) rs1595756941
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005585.5(SMAD6):c.613T>A (p.Cys205Ser) rs1595757271
NM_005585.5(SMAD6):c.649G>C (p.Gly217Arg) rs1222990058
NM_005585.5(SMAD6):c.779G>A (p.Cys260Tyr) rs1893051090
NM_005585.5(SMAD6):c.793C>T (p.His265Tyr) rs1555434295
NM_005585.5(SMAD6):c.837C>G (p.Tyr279Ter) rs1595763070
NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup) rs1473812330
NM_005585.5(SMAD6):c.900C>A (p.Tyr300Ter) rs767259025
NM_005585.5(SMAD6):c.995G>T (p.Cys332Phe) rs1245654025
NM_005631.5(SMO):c.1102C>G (p.Pro368Ala)
NM_005631.5(SMO):c.537G>A (p.Thr179=)
NM_005631.5(SMO):c.771G>A (p.Arg257=)
NM_005816.5(CD96):c.*2076del rs886057782
NM_005816.5(CD96):c.*2092_*2093insGAA rs557338377
NM_005816.5(CD96):c.*2092_*2093insGAAAGAA rs557338377
NM_005816.5(CD96):c.*2093_*2097del rs771511889
NM_005816.5(CD96):c.*2094del rs886057786
NM_005816.5(CD96):c.1181-12T>C
NM_005816.5(CD96):c.1249+1G>A
NM_005816.5(CD96):c.1390A>G (p.Asn464Asp) rs1939421281
NM_005816.5(CD96):c.1618C>T (p.Pro540Ser) rs1939992902
NM_005816.5(CD96):c.544-1477_544-1459del rs2107579299
NM_005816.5(CD96):c.54dup (p.Val19fs) rs200703204
NM_005816.5(CD96):c.718dup (p.Ile240fs) rs766366613
NM_005816.5(CD96):c.794A>G (p.Asp265Gly) rs1936662124
NM_005816.5(CD96):c.934del (p.Asp312fs) rs1937457440
NM_005850.5(SF3B4):c.152G>T (p.Gly51Val)
NM_005850.5(SF3B4):c.863A>G (p.His288Arg)
NM_006031.5(PCNT):c.*451G>A rs897212255
NM_006031.6(PCNT):c.*221C>G rs1013799749
NM_006031.6(PCNT):c.*225G>A rs528999705
NM_006031.6(PCNT):c.*318A>G rs1242193691
NM_006031.6(PCNT):c.-35T>A rs886057177
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.1396G>A (p.Glu466Lys) rs2084269624
NM_006031.6(PCNT):c.1483A>G (p.Thr495Ala) rs2084338403
NM_006031.6(PCNT):c.1586A>G (p.Asp529Gly) rs2084341884
NM_006031.6(PCNT):c.1716A>G (p.Lys572=) rs138617654
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn) rs138617654
NM_006031.6(PCNT):c.1813C>G (p.Leu605Val) rs2084439675
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr) rs886057179
NM_006031.6(PCNT):c.2154+7C>A rs376236418
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.2545G>T (p.Gly849Trp) rs776223654
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr) rs768342760
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val) rs763541418
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg) rs886057180
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3228G>T (p.Gln1076His) rs986050062
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu) rs587784303
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His) rs78484478
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=) rs2085811037
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del) rs759470656
NM_006031.6(PCNT):c.366_369del (p.Ser123fs) rs1569162602
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val) rs886057182
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) rs886057184
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala) rs139106698
NM_006031.6(PCNT):c.3812T>G (p.Met1271Arg) rs1484681697
NM_006031.6(PCNT):c.4177G>T (p.Gly1393Trp) rs753662756
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup) rs759009997
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp) rs549834885
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4551T>C (p.Pro1517=) rs762692764
NM_006031.6(PCNT):c.4584+11G>A rs752879780
NM_006031.6(PCNT):c.4584+11G>C rs752879780
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr) rs1296247151
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala) rs761232554
NM_006031.6(PCNT):c.513G>C (p.Met171Ile) rs142422937
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=) rs886057185
NM_006031.6(PCNT):c.5320G>C (p.Glu1774Gln) rs201709021
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro) rs200285580
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.537G>A (p.Pro179=) rs754732068
NM_006031.6(PCNT):c.5470C>T (p.Leu1824Phe) rs1602005527
NM_006031.6(PCNT):c.55-5C>T rs587784310
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His) rs776640595
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro) rs2086799208
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys) rs199564971
NM_006031.6(PCNT):c.5874C>T (p.His1958=) rs2086801367
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)
NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe)
NM_006031.6(PCNT):c.6147C>T (p.Gly2049=) rs2086841170
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) rs1173590566
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) rs886057189
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=) rs372022297
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr) rs771286324
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) rs770226991
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.721-7G>T rs2839217
NM_006031.6(PCNT):c.7246C>T (p.Pro2416Ser) rs576796827
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly) rs751345838
NM_006031.6(PCNT):c.7690+5G>A rs754618153
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe) rs372068143
NM_006031.6(PCNT):c.8028C>T (p.His2676=) rs886057191
NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys) rs1211566024
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
NM_006031.6(PCNT):c.8818_8819del (p.Asp2940fs) rs1214290914
NM_006031.6(PCNT):c.8829G>A (p.Ser2943=) rs773483379
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) rs201877661
NM_006031.6(PCNT):c.8996+10C>G rs748036380
NM_006031.6(PCNT):c.8996+5G>A rs886057193
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) rs1569308924
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly) rs886057194
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu) rs374857206
NM_006031.6(PCNT):c.9280G>C (p.Glu3094Gln) rs1404639711
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=) rs201798996
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)
NM_006031.6(PCNT):c.9632T>G (p.Phe3211Cys) rs559822257
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006129.4(BMP1):c.*601T>C rs1829476921
NM_006129.5(BMP1):c.*275G>A rs886062822
NM_006129.5(BMP1):c.*333G>A rs567556443
NM_006129.5(BMP1):c.1081A>T (p.Ile361Phe) rs1828947056
NM_006129.5(BMP1):c.1184G>T (p.Arg395Leu) rs375380551
NM_006129.5(BMP1):c.1215C>G (p.Ile405Met) rs1586459952
NM_006129.5(BMP1):c.1416C>T (p.His472=) rs148614326
NM_006129.5(BMP1):c.1519G>A (p.Gly507Arg) rs768570264
NM_006129.5(BMP1):c.1639+5C>T rs1829038661
NM_006129.5(BMP1):c.204A>G (p.Val68=) rs749485360
NM_006129.5(BMP1):c.224G>C (p.Arg75Thr) rs2131844680
NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu) rs886062819
NM_006129.5(BMP1):c.2430G>T (p.Gly810=) rs374092044
NM_006129.5(BMP1):c.2487C>A (p.Pro829=) rs367978759
NM_006129.5(BMP1):c.2487C>T (p.Pro829=) rs367978759
NM_006129.5(BMP1):c.2543A>G (p.Gln848Arg) rs1829384655
NM_006129.5(BMP1):c.2576-2A>C rs1368161403
NM_006129.5(BMP1):c.2724C>T (p.Thr908=) rs140092629
NM_006129.5(BMP1):c.2803C>T (p.Leu935=) rs886062821
NM_006129.5(BMP1):c.49C>T (p.Pro17Ser) rs1362079805
NM_006129.5(BMP1):c.820C>G (p.Arg274Gly)
NM_006129.5(BMP1):c.837-5T>C rs369882085
NM_006129.5(BMP1):c.916A>C (p.Ser306Arg) rs1357950133
NM_006182.4(DDR2):c.*152C>A rs1050990901
NM_006182.4(DDR2):c.*171AC[1] rs886045500
NM_006182.4(DDR2):c.*188del rs5778295
NM_006182.4(DDR2):c.*77C>G rs886045499
NM_006182.4(DDR2):c.-219T>C rs2292335
NM_006182.4(DDR2):c.-221C>T rs1656610008
NM_006182.4(DDR2):c.-258G>A rs944192097
NM_006182.4(DDR2):c.1005G>C (p.Thr335=) rs201957075
NM_006182.4(DDR2):c.100C>A (p.Leu34Met) rs1663295489
NM_006182.4(DDR2):c.1421T>C (p.Ile474Thr)
NM_006182.4(DDR2):c.2031C>T (p.Ser677=) rs773962213
NM_006182.4(DDR2):c.215G>T (p.Trp72Leu) rs2102132581
NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu) rs1558083144
NM_006182.4(DDR2):c.243T>C (p.Asp81=) rs138537887
NM_006182.4(DDR2):c.313C>A (p.Arg105Ser) rs759709680
NM_006182.4(DDR2):c.421C>T (p.Leu141=) rs1188435532
NM_006182.4(DDR2):c.691C>T (p.Gln231Ter) rs760194869
NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro)
NM_006265.3(RAD21):c.1130C>T (p.Ala377Val)
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) rs2130462808
NM_006265.3(RAD21):c.1153C>G (p.Leu385Val)
NM_006265.3(RAD21):c.1186C>T (p.Leu396Phe)
NM_006265.3(RAD21):c.1211G>A (p.Arg404Lys)
NM_006265.3(RAD21):c.1228G>T (p.Ala410Ser)
NM_006265.3(RAD21):c.1235A>G (p.Asn412Ser)
NM_006265.3(RAD21):c.1273G>A (p.Val425Ile)
NM_006265.3(RAD21):c.1276C>T (p.Pro426Ser)
NM_006265.3(RAD21):c.1296GCA[1] (p.Gln433del) rs2130459649
NM_006265.3(RAD21):c.1298A>G (p.Gln433Arg)
NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro)
NM_006265.3(RAD21):c.1382_1384del (p.Thr461del)
NM_006265.3(RAD21):c.144+5G>A
NM_006265.3(RAD21):c.1489A>G (p.Met497Val)
NM_006265.3(RAD21):c.1517C>G (p.Pro506Arg)
NM_006265.3(RAD21):c.1528C>G (p.Pro510Ala)
NM_006265.3(RAD21):c.1532A>G (p.Asn511Ser) rs1202371552
NM_006265.3(RAD21):c.1538G>C (p.Cys513Ser)
NM_006265.3(RAD21):c.1549C>T (p.Pro517Ser)
NM_006265.3(RAD21):c.1579_1581del (p.Lys527del)
NM_006265.3(RAD21):c.1592A>G (p.Lys531Arg)
NM_006265.3(RAD21):c.1602A>T (p.Glu534Asp)
NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del)
NM_006265.3(RAD21):c.1620G>A (p.Glu540=)
NM_006265.3(RAD21):c.1621-12A>T
NM_006265.3(RAD21):c.1621-13C>T
NM_006265.3(RAD21):c.1694A>G (p.His565Arg)
NM_006265.3(RAD21):c.1705-2A>G
NM_006265.3(RAD21):c.1727C>T (p.Ala576Val)
NM_006265.3(RAD21):c.1729G>A (p.Glu577Lys)
NM_006265.3(RAD21):c.1742T>C (p.Leu581Ser) rs2130450108
NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg)
NM_006265.3(RAD21):c.1815G>C (p.Lys605Asn)
NM_006265.3(RAD21):c.1852A>G (p.Ser618Gly) rs1554610467
NM_006265.3(RAD21):c.1863C>G (p.Ile621Met) rs763059424
NM_006265.3(RAD21):c.1890T>G (p.Ile630Met)
NM_006265.3(RAD21):c.1895A>G (p.Ter632=)
NM_006265.3(RAD21):c.273A>G (p.Pro91=) rs1812624997
NM_006265.3(RAD21):c.431C>T (p.Thr144Ile)
NM_006265.3(RAD21):c.482G>A (p.Gly161Asp)
NM_006265.3(RAD21):c.513G>A (p.Met171Ile)
NM_006265.3(RAD21):c.583T>C (p.Ser195Pro)
NM_006265.3(RAD21):c.623A>G (p.His208Arg)
NM_006265.3(RAD21):c.676G>A (p.Gly226Ser)
NM_006265.3(RAD21):c.686T>C (p.Leu229Ser)
NM_006265.3(RAD21):c.767C>T (p.Pro256Leu)
NM_006265.3(RAD21):c.814+6C>G
NM_006265.3(RAD21):c.838T>A (p.Ser280Thr)
NM_006265.3(RAD21):c.850G>A (p.Val284Ile) rs760261220
NM_006265.3(RAD21):c.865A>G (p.Thr289Ala)
NM_006265.3(RAD21):c.868A>G (p.Met290Val)
NM_006265.3(RAD21):c.871A>G (p.Thr291Ala)
NM_006265.3(RAD21):c.925A>G (p.Ile309Val)
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.*1028C>T rs1057515967
NM_006306.4(SMC1A):c.*1240A>G rs1057515966
NM_006306.4(SMC1A):c.*1559G>A rs782736361
NM_006306.4(SMC1A):c.*1967C>T rs2075567451
NM_006306.4(SMC1A):c.*2490T>C rs1057515962
NM_006306.4(SMC1A):c.*2936C>T rs782494133
NM_006306.4(SMC1A):c.*3305A>G rs1057515960
NM_006306.4(SMC1A):c.*3392T>C rs2075561045
NM_006306.4(SMC1A):c.*3807G>A rs1057515958
NM_006306.4(SMC1A):c.*5051G>T rs2075555081
NM_006306.4(SMC1A):c.*5352C>T rs1057515953
NM_006306.4(SMC1A):c.*5443C>G rs375348750
NM_006306.4(SMC1A):c.*5506A>T rs2075553176
NM_006306.4(SMC1A):c.*5722A>T rs2075552232
NM_006306.4(SMC1A):c.*5853A>G rs2075551728
NM_006306.4(SMC1A):c.*5915T>C rs1057515951
NM_006306.4(SMC1A):c.*626A>G rs1057515970
NM_006306.4(SMC1A):c.*665A>G rs1057515969
NM_006306.4(SMC1A):c.*817ACAG[1] rs1057515968
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)
NM_006306.4(SMC1A):c.1114-3C>T
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln)
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg)
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu) rs2075714342
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn) rs2075714119
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn)
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln) rs781890390
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=) rs2075703211
NM_006306.4(SMC1A):c.1338-4G>C
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg)
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala)
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser)
NM_006306.4(SMC1A):c.140T>G (p.Phe47Cys) rs1569359530
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly) rs2146602338
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro) rs2075701962
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1546-10C>G rs2146600160
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His) rs2146600129
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
NM_006306.4(SMC1A):c.1665C>G (p.Asp555Glu)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln) rs2075689185
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg) rs2075689167
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys) rs2146600005
NM_006306.4(SMC1A):c.1731+3G>T rs2075688980
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe)
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu)
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser) rs2146599772
NM_006306.4(SMC1A):c.1847C>T (p.Ala616Val) rs782196047
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu) rs1369059288
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys)
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His) rs2146599709
NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr)
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=) rs2075687850
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val)
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=) rs2075686281
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val) rs2075686262
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys) rs2075686139
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro)
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly)
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del)
NM_006306.4(SMC1A):c.2313+3T>G rs782384493
NM_006306.4(SMC1A):c.2314-15G>A rs2146598343
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu) rs2075680361
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn) rs2075680329
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)
NM_006306.4(SMC1A):c.2420+5G>A rs1556889217
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser) rs587784413
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
NM_006306.4(SMC1A):c.2555T>C (p.Leu852Pro)
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
NM_006306.4(SMC1A):c.2563-3C>G
NM_006306.4(SMC1A):c.2563-3C>T
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del) rs1569359505
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr)
NM_006306.4(SMC1A):c.2671A>G (p.Met891Val) rs2146593592
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.2708+7G>A
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.4(SMC1A):c.2717C>T (p.Thr906Ile) rs2146593520
NM_006306.4(SMC1A):c.2727G>T (p.Gln909His)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del) rs2075651266
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro) rs2146593453
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
NM_006306.4(SMC1A):c.2862+4A>G rs1445281439
NM_006306.4(SMC1A):c.2873A>G (p.Gln958Arg) rs1253991330
NM_006306.4(SMC1A):c.2882A>T (p.Asp961Val) rs2146592435
NM_006306.4(SMC1A):c.2887G>C (p.Val963Leu) rs2146592426
NM_006306.4(SMC1A):c.2890A>G (p.Ser964Gly)
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) rs2075644860
NM_006306.4(SMC1A):c.2974-9G>A rs2146583272
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg) rs781817923
NM_006306.4(SMC1A):c.298G>C (p.Gly100Arg) rs1569359487
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His)
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala) rs2146606564
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg) rs2075591743
NM_006306.4(SMC1A):c.3056G>A (p.Arg1019His)
NM_006306.4(SMC1A):c.3131-13T>G rs1273874101
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly) rs2075588188
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe) rs2146582586
NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala) rs1602398590
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met) rs587784417
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr) rs1131692271
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser) rs2146582465
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val) rs2146614101
NM_006306.4(SMC1A):c.3507+3G>A rs1556885809
NM_006306.4(SMC1A):c.3507+5G>A
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val) rs2146581303
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=) rs2146581022
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)
NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla) rs2075576498
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala) rs2146580992
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln) rs2075764777
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser) rs2146605688
NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln) rs2075720519
NM_006306.4(SMC1A):c.526G>A (p.Val176Met)
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys) rs2146605558
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys)
NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu)
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del) rs2146605357
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) rs370671274
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro)
NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg)
NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg)
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp) rs2146605306
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
NM_006306.4(SMC1A):c.859_861del (p.Lys287del) rs1556890626
NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr) rs2146604807
NM_006306.4(SMC1A):c.920A>G (p.His307Arg) rs1556890616
NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys)
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg)
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro) rs782449052
NM_006371.4(CRTAP):c.-83G>A rs890031275
NM_006371.5(CRTAP):c.*1181A>T rs556192429
NM_006371.5(CRTAP):c.*1254C>A rs886058357
NM_006371.5(CRTAP):c.*1564A>G rs886058359
NM_006371.5(CRTAP):c.*1606C>G rs2030655041
NM_006371.5(CRTAP):c.*2146C>T rs113966745
NM_006371.5(CRTAP):c.*2218C>T rs886058361
NM_006371.5(CRTAP):c.*2302G>A rs886058363
NM_006371.5(CRTAP):c.*2431G>A rs886058364
NM_006371.5(CRTAP):c.*2585G>C rs886058365
NM_006371.5(CRTAP):c.*2837G>T rs764661352
NM_006371.5(CRTAP):c.*3110G>C rs2030698620
NM_006371.5(CRTAP):c.*3332G>T rs535312612
NM_006371.5(CRTAP):c.*3588A>G rs1336476058
NM_006371.5(CRTAP):c.*3710T>C rs1575522291
NM_006371.5(CRTAP):c.*3731C>T rs561959158
NM_006371.5(CRTAP):c.*3891C>A rs4678478
NM_006371.5(CRTAP):c.*4099A>G rs886058370
NM_006371.5(CRTAP):c.*4124G>A rs183098032
NM_006371.5(CRTAP):c.*4124G>T rs183098032
NM_006371.5(CRTAP):c.*4427A>G rs2030735903
NM_006371.5(CRTAP):c.*4568C>T rs536756882
NM_006371.5(CRTAP):c.*4592T>C rs2030740279
NM_006371.5(CRTAP):c.*4647T>A rs886058373
NM_006371.5(CRTAP):c.*4705G>A rs145711257
NM_006371.5(CRTAP):c.*4786G>C rs1019554127
NM_006371.5(CRTAP):c.*4809A>G rs886058375
NM_006371.5(CRTAP):c.*5054A>G rs886058377
NM_006371.5(CRTAP):c.*5077A>G rs886058378
NM_006371.5(CRTAP):c.*5183C>A rs1284480065
NM_006371.5(CRTAP):c.*526G>C rs886058351
NM_006371.5(CRTAP):c.*69G>T rs2030606287
NM_006371.5(CRTAP):c.*703A>T rs886058353
NM_006371.5(CRTAP):c.*712A>T rs544339410
NM_006371.5(CRTAP):c.*910T>C rs886058354
NM_006371.5(CRTAP):c.101G>T (p.Arg34Leu) rs1468902182
NM_006371.5(CRTAP):c.101_109dup (p.Arg34_Phe36dup) rs778741063
NM_006371.5(CRTAP):c.1030A>G (p.Thr344Ala) rs1575518722
NM_006371.5(CRTAP):c.1031C>A (p.Thr344Asn) rs1305456639
NM_006371.5(CRTAP):c.104G>C (p.Ser35Thr) rs573867257
NM_006371.5(CRTAP):c.1068+12G>A
NM_006371.5(CRTAP):c.1112T>C (p.Leu371Pro)
NM_006371.5(CRTAP):c.1135A>G (p.Ile379Val)
NM_006371.5(CRTAP):c.113G>C (p.Arg38Pro) rs1311153988
NM_006371.5(CRTAP):c.1141del (p.Asp381fs)
NM_006371.5(CRTAP):c.1152+5G>C rs1553617810
NM_006371.5(CRTAP):c.1153-3C>T
NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr) rs768482278
NM_006371.5(CRTAP):c.1192G>A (p.Glu398Lys) rs201513139
NM_006371.5(CRTAP):c.143A>T (p.Tyr48Phe)
NM_006371.5(CRTAP):c.146G>C (p.Arg49Pro) rs1376339738
NM_006371.5(CRTAP):c.155T>C (p.Leu52Pro) rs1435396409
NM_006371.5(CRTAP):c.163T>C (p.Tyr55His)
NM_006371.5(CRTAP):c.169G>A (p.Gly57Ser)
NM_006371.5(CRTAP):c.16C>A (p.Arg6=) rs1701306755
NM_006371.5(CRTAP):c.173A>G (p.Glu58Gly) rs1701312995
NM_006371.5(CRTAP):c.196T>G (p.Tyr66Asp)
NM_006371.5(CRTAP):c.215G>T (p.Arg72Leu)
NM_006371.5(CRTAP):c.224G>A (p.Arg75His) rs1488937584
NM_006371.5(CRTAP):c.235G>C (p.Asp79His) rs375833342
NM_006371.5(CRTAP):c.235G>T (p.Asp79Tyr) rs375833342
NM_006371.5(CRTAP):c.257G>C (p.Arg86Pro) rs2125595979
NM_006371.5(CRTAP):c.260A>G (p.Asn87Ser)
NM_006371.5(CRTAP):c.261C>A (p.Asn87Lys)
NM_006371.5(CRTAP):c.267C>G (p.Ser89Arg) rs2125595986
NM_006371.5(CRTAP):c.280C>T (p.Pro94Ser)
NM_006371.5(CRTAP):c.29C>T (p.Ala10Val) rs769955892
NM_006371.5(CRTAP):c.329G>T (p.Gly110Val) rs761073068
NM_006371.5(CRTAP):c.32T>C (p.Leu11Pro) rs1701307738
NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys)
NM_006371.5(CRTAP):c.340C>T (p.Arg114Cys)
NM_006371.5(CRTAP):c.343C>G (p.Arg115Gly)
NM_006371.5(CRTAP):c.352_353delinsCT (p.Cys118Leu) rs1701317564
NM_006371.5(CRTAP):c.353G>A (p.Cys118Tyr) rs765234021
NM_006371.5(CRTAP):c.35T>C (p.Leu12Pro)
NM_006371.5(CRTAP):c.36_44dup (p.10ALL[3]) rs777594626
NM_006371.5(CRTAP):c.380C>A (p.Pro127Gln) rs921862940
NM_006371.5(CRTAP):c.387C>G (p.Phe129Leu) rs778764392
NM_006371.5(CRTAP):c.400C>A (p.Pro134Thr)
NM_006371.5(CRTAP):c.40C>G (p.Leu14Val) rs909805285
NM_006371.5(CRTAP):c.412G>A (p.Val138Met)
NM_006371.5(CRTAP):c.430C>T (p.Arg144Cys)
NM_006371.5(CRTAP):c.436G>A (p.Glu146Lys)
NM_006371.5(CRTAP):c.438G>T (p.Glu146Asp)
NM_006371.5(CRTAP):c.443A>C (p.Tyr148Ser) rs1185323876
NM_006371.5(CRTAP):c.44_64dup (p.Leu15_Leu21dup) rs1701307846
NM_006371.5(CRTAP):c.452T>G (p.Leu151Arg) rs1405064021
NM_006371.5(CRTAP):c.471+2C>T rs137853943
NM_006371.5(CRTAP):c.471+8C>G rs1215281758
NM_006371.5(CRTAP):c.473C>G (p.Ala158Gly)
NM_006371.5(CRTAP):c.4G>C (p.Glu2Gln)
NM_006371.5(CRTAP):c.50T>A (p.Val17Glu) rs1701308393
NM_006371.5(CRTAP):c.517C>G (p.Leu173Val) rs778115119
NM_006371.5(CRTAP):c.518T>C (p.Leu173Pro) rs139024557
NM_006371.5(CRTAP):c.527C>A (p.Pro176His)
NM_006371.5(CRTAP):c.534C>G (p.Asp178Glu) rs4076086
NM_006371.5(CRTAP):c.542T>C (p.Met181Thr) rs2125598667
NM_006371.5(CRTAP):c.544A>C (p.Lys182Gln)
NM_006371.5(CRTAP):c.57C>T (p.Cys19=)
NM_006371.5(CRTAP):c.58G>A (p.Ala20Thr)
NM_006371.5(CRTAP):c.602T>G (p.Leu201Arg) rs376333603
NM_006371.5(CRTAP):c.60G>T (p.Ala20=) rs1393255225
NM_006371.5(CRTAP):c.621A>T (p.Glu207Asp)
NM_006371.5(CRTAP):c.680C>T (p.Thr227Ile) rs564175168
NM_006371.5(CRTAP):c.684C>G (p.Asp228Glu)
NM_006371.5(CRTAP):c.685A>T (p.Met229Leu)
NM_006371.5(CRTAP):c.687G>A (p.Met229Ile)
NM_006371.5(CRTAP):c.703G>A (p.Asp235Asn) rs770887829
NM_006371.5(CRTAP):c.721T>G (p.Tyr241Asp) rs2125600442
NM_006371.5(CRTAP):c.728G>A (p.Cys243Tyr)
NM_006371.5(CRTAP):c.733G>A (p.Ala245Thr)
NM_006371.5(CRTAP):c.73C>A (p.Arg25Ser)
NM_006371.5(CRTAP):c.756G>C (p.Glu252Asp) rs116519163
NM_006371.5(CRTAP):c.769A>C (p.Lys257Gln)
NM_006371.5(CRTAP):c.793+12G>T
NM_006371.5(CRTAP):c.794-3C>T
NM_006371.5(CRTAP):c.802G>A (p.Val268Ile) rs112423184
NM_006371.5(CRTAP):c.83A>G (p.Tyr28Cys)
NM_006371.5(CRTAP):c.88C>T (p.Arg30Cys) rs553076085
NM_006371.5(CRTAP):c.896A>G (p.His299Arg)
NM_006371.5(CRTAP):c.8C>A (p.Pro3Gln)
NM_006371.5(CRTAP):c.903_908del (p.Leu301_Gln302del) rs2030205751
NM_006371.5(CRTAP):c.904C>A (p.Gln302Lys) rs2030205875
NM_006371.5(CRTAP):c.90C>G (p.Arg30=) rs1256135890
NM_006371.5(CRTAP):c.930C>T (p.Asp310=) rs762039541
NM_006371.5(CRTAP):c.94A>G (p.Ser32Gly) rs748431852
NM_006371.5(CRTAP):c.959G>A (p.Ser320Asn) rs2125603844
NM_006371.5(CRTAP):c.962A>G (p.Tyr321Cys)
NM_006371.5(CRTAP):c.988G>A (p.Val330Ile) rs2030300085
NM_006371.5(CRTAP):c.99C>G (p.Phe33Leu)
NM_006494.4(ERF):c.1030C>G (p.Arg344Gly) rs1395870549
NM_006494.4(ERF):c.1243_1245del (p.Ala415del) rs759202471
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly) rs766642440
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)
NM_006494.4(ERF):c.1500del (p.Ala501fs)
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006494.4(ERF):c.199T>G (p.Trp67Gly) rs141468833
NM_006494.4(ERF):c.226A>G (p.Met76Val)
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006494.4(ERF):c.257G>A (p.Arg86His) rs765295141
NM_006494.4(ERF):c.281T>C (p.Leu94Pro)
NM_006494.4(ERF):c.355A>C (p.Ile119Leu)
NM_006494.4(ERF):c.383T>G (p.Val128Gly) rs781452659
NM_006494.4(ERF):c.398C>T (p.Pro133Leu) rs2036411561
NM_006494.4(ERF):c.40T>G (p.Trp14Gly)
NM_006494.4(ERF):c.532G>C (p.Ala178Pro) rs767011693
NM_006494.4(ERF):c.748G>C (p.Val250Leu) rs2036399893
NM_006494.4(ERF):c.810G>A (p.Met270Ile)
NM_006494.4(ERF):c.911_913del (p.Ser304del) rs2146949300
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)
NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)
NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg)
NM_006766.5(KAT6A):c.2135G>A (p.Ser712Asn) rs2150863487
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)
NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)
NM_006766.5(KAT6A):c.2242C>T (p.Arg748Cys)
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu) rs2150932891
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys) rs745933378
NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys) rs1822089938
NM_006766.5(KAT6A):c.3061dup (p.Arg1021fs)
NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe) rs978156504
NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)
NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)
NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)
NM_006766.5(KAT6A):c.3670_3672del (p.Lys1224del)
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp) rs1240578716
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) rs774544767
NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)
NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu) rs1821690064
NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)
NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) rs1821679735
NM_006766.5(KAT6A):c.4625C>T (p.Ser1542Phe)
NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4759T>G (p.Cys1587Gly) rs2150855850
NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)
NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr) rs1264564304
NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup) rs2150855509
NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu) rs867327550
NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val) rs1821630087
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr) rs1587706129
NM_006766.5(KAT6A):c.5705A>G (p.Asn1902Ser)
NM_006766.5(KAT6A):c.5924A>G (p.Asn1975Ser)
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln) rs1824373842
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)
NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)
NM_006907.4(PYCR1):c.-378G>C
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) rs2041142934
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) rs763349891
NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) rs199760382
NM_007055.4(POLR3A):c.2988+18C>T rs369684554
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
NM_007255.3(B4GALT7):c.640-12T>A
NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp) rs876659028
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile) rs876660144
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) rs876658843
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) rs1555588389
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) rs80357136
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del) rs1057517536
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp) rs2053486938
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr) rs876660684
NM_007294.4(BRCA1):c.442-2A>G rs80358155
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys) rs786202165
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu) rs886040263
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys) rs397509268
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly) rs55767801
NM_007317.3(KIF22):c.127C>T (p.Arg43Cys)
NM_007317.3(KIF22):c.1396C>T (p.Arg466Ter)
NM_007317.3(KIF22):c.1424T>G (p.Val475Gly) rs1555499767
NM_007317.3(KIF22):c.1630C>G (p.Pro544Ala) rs1899240993
NM_007317.3(KIF22):c.1898_1915del (p.Asp633_Glu638del)
NM_007317.3(KIF22):c.361G>A (p.Ala121Thr)
NM_007317.3(KIF22):c.392C>G (p.Ala131Gly)
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007317.3(KIF22):c.502T>C (p.Trp168Arg) rs779247770
NM_012330.4(KAT6B):c.1009C>T (p.Arg337Ter)
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn) rs182392778
NM_012330.4(KAT6B):c.1070C>A (p.Thr357Asn) rs2133719323
NM_012330.4(KAT6B):c.1087A>G (p.Met363Val)
NM_012330.4(KAT6B):c.109A>G (p.Ser37Gly) rs770545156
NM_012330.4(KAT6B):c.1145C>A (p.Thr382Asn)
NM_012330.4(KAT6B):c.1147A>G (p.Thr383Ala)
NM_012330.4(KAT6B):c.1159G>T (p.Gly387Cys)
NM_012330.4(KAT6B):c.1162C>T (p.His388Tyr) rs2133720225
NM_012330.4(KAT6B):c.1184C>T (p.Ser395Leu) rs1157587933
NM_012330.4(KAT6B):c.1210C>T (p.Pro404Ser)
NM_012330.4(KAT6B):c.1213A>C (p.Thr405Pro)
NM_012330.4(KAT6B):c.1216C>T (p.Arg406Trp)
NM_012330.4(KAT6B):c.1217G>A (p.Arg406Gln)
NM_012330.4(KAT6B):c.1228A>G (p.Thr410Ala)
NM_012330.4(KAT6B):c.1252A>G (p.Thr418Ala) rs2133721937
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.1366A>C (p.Ile456Leu) rs763282624
NM_012330.4(KAT6B):c.1449_1451del (p.Thr484del)
NM_012330.4(KAT6B):c.1475C>T (p.Ser492Phe)
NM_012330.4(KAT6B):c.1495C>T (p.Pro499Ser)
NM_012330.4(KAT6B):c.1513C>G (p.Pro505Ala) rs1842122441
NM_012330.4(KAT6B):c.1527G>C (p.Lys509Asn)
NM_012330.4(KAT6B):c.1542_1543delinsCA (p.Ser515Thr) rs2133726080
NM_012330.4(KAT6B):c.1543T>A (p.Ser515Thr)
NM_012330.4(KAT6B):c.1543TCT[1] (p.Ser516del)
NM_012330.4(KAT6B):c.1549C>T (p.Pro517Ser)
NM_012330.4(KAT6B):c.1576T>A (p.Cys526Ser)
NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly)
NM_012330.4(KAT6B):c.1646A>G (p.His549Arg)
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) rs1315521603
NM_012330.4(KAT6B):c.1673G>A (p.Arg558His)
NM_012330.4(KAT6B):c.1697C>T (p.Ala566Val)
NM_012330.4(KAT6B):c.1708C>T (p.Arg570Cys)
NM_012330.4(KAT6B):c.1715G>A (p.Arg572His)
NM_012330.4(KAT6B):c.1732T>C (p.Ser578Pro) rs2133729503
NM_012330.4(KAT6B):c.1756C>G (p.His586Asp)
NM_012330.4(KAT6B):c.1757A>C (p.His586Pro)
NM_012330.4(KAT6B):c.1786C>T (p.Arg596Trp)
NM_012330.4(KAT6B):c.1805C>A (p.Ser602Tyr)
NM_012330.4(KAT6B):c.1805C>T (p.Ser602Phe)
NM_012330.4(KAT6B):c.1808C>T (p.Ser603Phe)
NM_012330.4(KAT6B):c.1813A>C (p.Ser605Arg) rs2133730853
NM_012330.4(KAT6B):c.1839T>G (p.Ile613Met)
NM_012330.4(KAT6B):c.1844A>G (p.Lys615Arg)
NM_012330.4(KAT6B):c.1849A>C (p.Ile617Leu)
NM_012330.4(KAT6B):c.1849A>G (p.Ile617Val)
NM_012330.4(KAT6B):c.1855C>G (p.His619Asp)
NM_012330.4(KAT6B):c.1874T>G (p.Phe625Cys) rs760605044
NM_012330.4(KAT6B):c.1876C>T (p.Leu626Phe)
NM_012330.4(KAT6B):c.1901G>C (p.Arg634Thr)
NM_012330.4(KAT6B):c.1906A>G (p.Lys636Glu)
NM_012330.4(KAT6B):c.1914A>T (p.Lys638Asn)
NM_012330.4(KAT6B):c.1947G>T (p.Gly649=)
NM_012330.4(KAT6B):c.1996A>G (p.Thr666Ala)
NM_012330.4(KAT6B):c.2048G>A (p.Gly683Glu)
NM_012330.4(KAT6B):c.2084T>C (p.Val695Ala)
NM_012330.4(KAT6B):c.2095G>A (p.Ala699Thr)
NM_012330.4(KAT6B):c.2096C>T (p.Ala699Val) rs2133747800
NM_012330.4(KAT6B):c.2101G>A (p.Glu701Lys)
NM_012330.4(KAT6B):c.2134G>T (p.Gly712Trp)
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp) rs1842359062
NM_012330.4(KAT6B):c.2168T>C (p.Ile723Thr)
NM_012330.4(KAT6B):c.2195C>G (p.Thr732Ser)
NM_012330.4(KAT6B):c.2282A>G (p.Lys761Arg)
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) rs1589750251
NM_012330.4(KAT6B):c.2306A>G (p.Lys769Arg)
NM_012330.4(KAT6B):c.230del (p.Pro77fs)
NM_012330.4(KAT6B):c.2324A>T (p.His775Leu)
NM_012330.4(KAT6B):c.2348G>A (p.Arg783Gln)
NM_012330.4(KAT6B):c.2373+6C>A rs192506542
NM_012330.4(KAT6B):c.2374-3T>C
NM_012330.4(KAT6B):c.2390G>A (p.Ser797Asn)
NM_012330.4(KAT6B):c.2405A>G (p.Gln802Arg)
NM_012330.4(KAT6B):c.2413T>C (p.Cys805Arg)
NM_012330.4(KAT6B):c.2506G>A (p.Gly836Ser)
NM_012330.4(KAT6B):c.2509T>C (p.Cys837Arg)
NM_012330.4(KAT6B):c.2555A>G (p.Lys852Arg)
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr)
NM_012330.4(KAT6B):c.2611C>T (p.Arg871Trp)
NM_012330.4(KAT6B):c.2615T>G (p.Phe872Cys)
NM_012330.4(KAT6B):c.2666C>G (p.Ser889Cys)
NM_012330.4(KAT6B):c.2686G>A (p.Asp896Asn)
NM_012330.4(KAT6B):c.2696G>A (p.Arg899His)
NM_012330.4(KAT6B):c.2717G>A (p.Trp906Ter)
NM_012330.4(KAT6B):c.2726T>C (p.Val909Ala)
NM_012330.4(KAT6B):c.2742_2743del (p.Tyr915fs) rs2134154014
NM_012330.4(KAT6B):c.2744A>C (p.Tyr915Ser)
NM_012330.4(KAT6B):c.279G>C (p.Lys93Asn)
NM_012330.4(KAT6B):c.2807A>G (p.His936Arg)
NM_012330.4(KAT6B):c.2822C>T (p.Thr941Ile)
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn)
NM_012330.4(KAT6B):c.2861G>A (p.Arg954Lys)
NM_012330.4(KAT6B):c.2903T>C (p.Met968Thr)
NM_012330.4(KAT6B):c.2920T>C (p.Cys974Arg)
NM_012330.4(KAT6B):c.292T>A (p.Ser98Thr)
NM_012330.4(KAT6B):c.2933A>G (p.Asn978Ser)
NM_012330.4(KAT6B):c.293C>T (p.Ser98Leu)
NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn)
NM_012330.4(KAT6B):c.2968A>G (p.Ile990Val)
NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr) rs776774212
NM_012330.4(KAT6B):c.3021+6G>A
NM_012330.4(KAT6B):c.3052T>C (p.Trp1018Arg)
NM_012330.4(KAT6B):c.3056A>G (p.Glu1019Gly)
NM_012330.4(KAT6B):c.308G>T (p.Arg103Leu)
NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr) rs1841861253
NM_012330.4(KAT6B):c.3128A>G (p.Asn1043Ser)
NM_012330.4(KAT6B):c.3152G>C (p.Ser1051Thr)
NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs) rs1057519003
NM_012330.4(KAT6B):c.3155G>C (p.Arg1052Pro)
NM_012330.4(KAT6B):c.3157C>T (p.Pro1053Ser)
NM_012330.4(KAT6B):c.3173G>A (p.Arg1058Gln)
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) rs765976563
NM_012330.4(KAT6B):c.3210AGA[4] (p.Glu1076_Asp1077insGlu)
NM_012330.4(KAT6B):c.3217G>C (p.Glu1073Gln)
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val)
NM_012330.4(KAT6B):c.3228_3242del (p.Asp1077_Glu1081del)
NM_012330.4(KAT6B):c.3231C>G (p.Asp1077Glu) rs11001247
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3231_3242dup (p.Glu1080_Glu1081insAspGluGluGlu)
NM_012330.4(KAT6B):c.3235G>A (p.Glu1079Lys)
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del)
NM_012330.4(KAT6B):c.3252_3269del (p.Glu1084_Glu1089del)
NM_012330.4(KAT6B):c.3255AGA[3] (p.Glu1089_Asp1090insGlu)
NM_012330.4(KAT6B):c.3256G>C (p.Glu1086Gln)
NM_012330.4(KAT6B):c.3258A>T (p.Glu1086Asp)
NM_012330.4(KAT6B):c.3267_3293dup (p.Glu1098_Glu1099insAspGluGluGluGluGluGluGluGlu)
NM_012330.4(KAT6B):c.3270T>A (p.Asp1090Glu)
NM_012330.4(KAT6B):c.3275A>G (p.Glu1092Gly)
NM_012330.4(KAT6B):c.3279G>T (p.Glu1093Asp)
NM_012330.4(KAT6B):c.3286G>A (p.Glu1096Lys)
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3289GAA[12] (p.Glu1104_Asn1105insGluGluGluGlu)
NM_012330.4(KAT6B):c.3289GAA[4] (p.Glu1101_Glu1104del)
NM_012330.4(KAT6B):c.3289GAA[5] (p.Glu1102_Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3293_3294insGGATGAAGAGGAGGA (p.Glu1098_Glu1099insAspGluGluGluGlu)
NM_012330.4(KAT6B):c.3296A>G (p.Glu1099Gly)
NM_012330.4(KAT6B):c.3296_3297insGGAAGA (p.Glu1104_Asn1105insGluGlu)
NM_012330.4(KAT6B):c.3310G>A (p.Glu1104Lys)
NM_012330.4(KAT6B):c.3316A>G (p.Ile1106Val)
NM_012330.4(KAT6B):c.3328C>T (p.Pro1110Ser)
NM_012330.4(KAT6B):c.3329C>G (p.Pro1110Arg)
NM_012330.4(KAT6B):c.3331C>T (p.Pro1111Ser)
NM_012330.4(KAT6B):c.3334A>G (p.Arg1112Gly)
NM_012330.4(KAT6B):c.3335G>A (p.Arg1112Lys)
NM_012330.4(KAT6B):c.3341C>A (p.Thr1114Lys)
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3355G>C (p.Val1119Leu)
NM_012330.4(KAT6B):c.3376C>A (p.Pro1126Thr)
NM_012330.4(KAT6B):c.3381T>G (p.Phe1127Leu)
NM_012330.4(KAT6B):c.3382G>A (p.Val1128Ile)
NM_012330.4(KAT6B):c.338G>A (p.Arg113Lys)
NM_012330.4(KAT6B):c.3400G>A (p.Gly1134Ser)
NM_012330.4(KAT6B):c.3404G>A (p.Arg1135His) rs138617006
NM_012330.4(KAT6B):c.3415A>G (p.Arg1139Gly)
NM_012330.4(KAT6B):c.3455C>T (p.Thr1152Met)
NM_012330.4(KAT6B):c.3500G>A (p.Arg1167Lys)
NM_012330.4(KAT6B):c.3505A>G (p.Met1169Val)
NM_012330.4(KAT6B):c.3509C>T (p.Pro1170Leu)
NM_012330.4(KAT6B):c.3518A>G (p.Glu1173Gly)
NM_012330.4(KAT6B):c.3543G>C (p.Glu1181Asp)
NM_012330.4(KAT6B):c.3562G>A (p.Val1188Ile)
NM_012330.4(KAT6B):c.3601A>G (p.Arg1201Gly)
NM_012330.4(KAT6B):c.361C>T (p.Pro121Ser)
NM_012330.4(KAT6B):c.3623G>A (p.Gly1208Glu)
NM_012330.4(KAT6B):c.3632A>T (p.Asn1211Ile)
NM_012330.4(KAT6B):c.3659G>A (p.Cys1220Tyr)
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
NM_012330.4(KAT6B):c.3671T>A (p.Met1224Lys)
NM_012330.4(KAT6B):c.3671T>C (p.Met1224Thr) rs367677006
NM_012330.4(KAT6B):c.3694A>G (p.Lys1232Glu) rs762337174
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn)
NM_012330.4(KAT6B):c.3712A>G (p.Asn1238Asp)
NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg)
NM_012330.4(KAT6B):c.3730T>G (p.Cys1244Gly)
NM_012330.4(KAT6B):c.3737A>G (p.Gln1246Arg)
NM_012330.4(KAT6B):c.3761G>A (p.Arg1254His)
NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser)
NM_012330.4(KAT6B):c.3763G>C (p.Gly1255Arg)
NM_012330.4(KAT6B):c.376C>A (p.Leu126Met)
NM_012330.4(KAT6B):c.3770C>G (p.Ser1257Cys) rs1424209939
NM_012330.4(KAT6B):c.3855G>T (p.Glu1285Asp)
NM_012330.4(KAT6B):c.3877A>G (p.Lys1293Glu)
NM_012330.4(KAT6B):c.387A>G (p.Ile129Met)
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys) rs2132074046
NM_012330.4(KAT6B):c.3943G>C (p.Gly1315Arg)
NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis)
NM_012330.4(KAT6B):c.3962A>G (p.Gln1321Arg)
NM_012330.4(KAT6B):c.3997G>A (p.Val1333Ile)
NM_012330.4(KAT6B):c.4004C>T (p.Pro1335Leu)
NM_012330.4(KAT6B):c.4006A>G (p.Asn1336Asp) rs2134235938
NM_012330.4(KAT6B):c.4033GAT[1] (p.Asp1346del)
NM_012330.4(KAT6B):c.4051G>C (p.Glu1351Gln)
NM_012330.4(KAT6B):c.4053G>C (p.Glu1351Asp) rs1314906622
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4068_4085dup (p.Glu1368_Gly1369insGluGluGluGluGluGlu)
NM_012330.4(KAT6B):c.4079AAGAGGAAG[5] (p.Glu1363_Glu1368dup) rs375513122
NM_012330.4(KAT6B):c.4120GGA[2] (p.Gly1376del)
NM_012330.4(KAT6B):c.4144C>A (p.Pro1382Thr)
NM_012330.4(KAT6B):c.4148A>C (p.Asp1383Ala) rs1846099902
NM_012330.4(KAT6B):c.4150G>A (p.Gly1384Ser)
NM_012330.4(KAT6B):c.4171G>A (p.Glu1391Lys)
NM_012330.4(KAT6B):c.4177C>T (p.Pro1393Ser)
NM_012330.4(KAT6B):c.4208C>T (p.Ala1403Val)
NM_012330.4(KAT6B):c.4211G>T (p.Arg1404Leu) rs563033366
NM_012330.4(KAT6B):c.4217A>G (p.Asp1406Gly)
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) rs745314195
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala)
NM_012330.4(KAT6B):c.428C>T (p.Thr143Ile)
NM_012330.4(KAT6B):c.4297C>T (p.His1433Tyr)
NM_012330.4(KAT6B):c.431A>C (p.Asn144Thr)
NM_012330.4(KAT6B):c.4372A>G (p.Thr1458Ala)
NM_012330.4(KAT6B):c.4402C>T (p.His1468Tyr)
NM_012330.4(KAT6B):c.4414G>C (p.Glu1472Gln)
NM_012330.4(KAT6B):c.4420T>G (p.Leu1474Val) rs1846124520
NM_012330.4(KAT6B):c.4438G>C (p.Asp1480His)
NM_012330.4(KAT6B):c.4492G>T (p.Ala1498Ser)
NM_012330.4(KAT6B):c.4495_4496inv (p.Val1499Thr)
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) rs2134241318
NM_012330.4(KAT6B):c.4526G>A (p.Gly1509Glu) rs2134241407
NM_012330.4(KAT6B):c.4526_4528del (p.Gly1509del)
NM_012330.4(KAT6B):c.4528G>A (p.Glu1510Lys)
NM_012330.4(KAT6B):c.4549C>A (p.Gln1517Lys)
NM_012330.4(KAT6B):c.4555A>C (p.Asn1519His)
NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter) rs1564516087
NM_012330.4(KAT6B):c.460C>G (p.Leu154Val)
NM_012330.4(KAT6B):c.4648C>G (p.Gln1550Glu)
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys) rs761295315
NM_012330.4(KAT6B):c.4669G>A (p.Asp1557Asn)
NM_012330.4(KAT6B):c.466G>A (p.Ala156Thr)
NM_012330.4(KAT6B):c.4670A>T (p.Asp1557Val)
NM_012330.4(KAT6B):c.467C>T (p.Ala156Val)
NM_012330.4(KAT6B):c.4690G>A (p.Glu1564Lys)
NM_012330.4(KAT6B):c.4694C>T (p.Thr1565Ile)
NM_012330.4(KAT6B):c.4727C>G (p.Thr1576Ser)
NM_012330.4(KAT6B):c.4729C>T (p.Arg1577Cys)
NM_012330.4(KAT6B):c.4730G>A (p.Arg1577His)
NM_012330.4(KAT6B):c.4739A>G (p.Gln1580Arg)
NM_012330.4(KAT6B):c.4760C>A (p.Thr1587Lys)
NM_012330.4(KAT6B):c.476C>G (p.Ala159Gly)
NM_012330.4(KAT6B):c.4778A>G (p.Gln1593Arg)
NM_012330.4(KAT6B):c.4783G>A (p.Asp1595Asn)
NM_012330.4(KAT6B):c.4816C>T (p.His1606Tyr)
NM_012330.4(KAT6B):c.4828T>C (p.Ser1610Pro)
NM_012330.4(KAT6B):c.4829C>G (p.Ser1610Cys)
NM_012330.4(KAT6B):c.4852A>G (p.Ser1618Gly) rs370040258
NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val)
NM_012330.4(KAT6B):c.4898A>C (p.Gln1633Pro)
NM_012330.4(KAT6B):c.4936A>G (p.Thr1646Ala)
NM_012330.4(KAT6B):c.4994G>A (p.Ser1665Asn)
NM_012330.4(KAT6B):c.5057A>G (p.Tyr1686Cys)
NM_012330.4(KAT6B):c.5070G>A (p.Met1690Ile)
NM_012330.4(KAT6B):c.5083T>A (p.Cys1695Ser) rs1408947850
NM_012330.4(KAT6B):c.5093G>A (p.Gly1698Asp)
NM_012330.4(KAT6B):c.509C>G (p.Pro170Arg)
NM_012330.4(KAT6B):c.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
NM_012330.4(KAT6B):c.5228C>T (p.Pro1743Leu)
NM_012330.4(KAT6B):c.5254C>G (p.Gln1752Glu)
NM_012330.4(KAT6B):c.5257G>T (p.Gly1753Cys)
NM_012330.4(KAT6B):c.5263G>A (p.Val1755Met)
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys)
NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His)
NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu) rs2132075192
NM_012330.4(KAT6B):c.5330C>A (p.Pro1777Gln)
NM_012330.4(KAT6B):c.5333C>G (p.Pro1778Arg)
NM_012330.4(KAT6B):c.533G>T (p.Ser178Ile)
NM_012330.4(KAT6B):c.5356G>A (p.Glu1786Lys)
NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp)
NM_012330.4(KAT6B):c.5423A>G (p.Tyr1808Cys)
NM_012330.4(KAT6B):c.5432C>T (p.Pro1811Leu)
NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro)
NM_012330.4(KAT6B):c.5476A>G (p.Thr1826Ala)
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.5506C>A (p.His1836Asn)
NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr)
NM_012330.4(KAT6B):c.5547G>T (p.Leu1849Phe)
NM_012330.4(KAT6B):c.5554C>T (p.Pro1852Ser)
NM_012330.4(KAT6B):c.5584T>C (p.Ser1862Pro)
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile)
NM_012330.4(KAT6B):c.5634G>A (p.Met1878Ile)
NM_012330.4(KAT6B):c.5641C>T (p.Pro1881Ser)
NM_012330.4(KAT6B):c.5665A>G (p.Met1889Val)
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val)
NM_012330.4(KAT6B):c.569C>T (p.Ala190Val)
NM_012330.4(KAT6B):c.5704G>A (p.Ala1902Thr)
NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter) rs1564633281
NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu)
NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro)
NM_012330.4(KAT6B):c.5788G>A (p.Ala1930Thr)
NM_012330.4(KAT6B):c.5806G>A (p.Ala1936Thr)
NM_012330.4(KAT6B):c.5806G>C (p.Ala1936Pro)
NM_012330.4(KAT6B):c.5813C>T (p.Thr1938Ile) rs376112744
NM_012330.4(KAT6B):c.5818C>G (p.Gln1940Glu)
NM_012330.4(KAT6B):c.581C>T (p.Ser194Leu)
NM_012330.4(KAT6B):c.5826A>T (p.Gln1942His) rs2134253644
NM_012330.4(KAT6B):c.5831del (p.Tyr1944fs)
NM_012330.4(KAT6B):c.5866G>A (p.Ala1956Thr)
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) rs2132075785
NM_012330.4(KAT6B):c.5870G>A (p.Arg1957Gln)
NM_012330.4(KAT6B):c.5899A>G (p.Met1967Val) rs750955934
NM_012330.4(KAT6B):c.5918C>G (p.Pro1973Arg)
NM_012330.4(KAT6B):c.5920G>A (p.Ala1974Thr)
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) rs745470061
NM_012330.4(KAT6B):c.5950A>G (p.Met1984Val)
NM_012330.4(KAT6B):c.5984A>C (p.Tyr1995Ser)
NM_012330.4(KAT6B):c.5987G>A (p.Ser1996Asn)
NM_012330.4(KAT6B):c.6001A>G (p.Met2001Val)
NM_012330.4(KAT6B):c.6037A>G (p.Met2013Val) rs1846270592
NM_012330.4(KAT6B):c.6058C>G (p.Pro2020Ala)
NM_012330.4(KAT6B):c.6061A>T (p.Met2021Leu)
NM_012330.4(KAT6B):c.6072G>T (p.Gln2024His)
NM_012330.4(KAT6B):c.6076G>T (p.Gly2026Cys)
NM_012330.4(KAT6B):c.6079A>G (p.Met2027Val) rs1564633848
NM_012330.4(KAT6B):c.6109C>A (p.Pro2037Thr)
NM_012330.4(KAT6B):c.6112A>G (p.Met2038Val)
NM_012330.4(KAT6B):c.6154G>A (p.Gly2052Arg)
NM_012330.4(KAT6B):c.6167A>G (p.Tyr2056Cys)
NM_012330.4(KAT6B):c.6172A>G (p.Asn2058Asp)
NM_012330.4(KAT6B):c.6196C>G (p.Leu2066Val) rs901914485
NM_012330.4(KAT6B):c.6200A>G (p.Asn2067Ser)
NM_012330.4(KAT6B):c.622-53842A>G rs2132837198
NM_012330.4(KAT6B):c.6221A>G (p.Ter2074Trp)
NM_012330.4(KAT6B):c.625C>G (p.Arg209Gly)
NM_012330.4(KAT6B):c.626G>A (p.Arg209His)
NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr)
NM_012330.4(KAT6B):c.643A>G (p.Ile215Val) rs2133519678
NM_012330.4(KAT6B):c.673T>G (p.Ser225Ala)
NM_012330.4(KAT6B):c.680G>A (p.Arg227His)
NM_012330.4(KAT6B):c.709_710delinsGT (p.Cys237Val)
NM_012330.4(KAT6B):c.728G>A (p.Ser243Asn)
NM_012330.4(KAT6B):c.758C>T (p.Pro253Leu)
NM_012330.4(KAT6B):c.779A>G (p.Lys260Arg)
NM_012330.4(KAT6B):c.788G>T (p.Arg263Met)
NM_012330.4(KAT6B):c.799A>G (p.Ile267Val)
NM_012330.4(KAT6B):c.801C>A (p.Ile267=)
NM_012330.4(KAT6B):c.817A>G (p.Ser273Gly)
NM_012330.4(KAT6B):c.840A>C (p.Arg280Ser)
NM_012330.4(KAT6B):c.881G>A (p.Gly294Glu)
NM_012330.4(KAT6B):c.928+1G>T
NM_012463.4(ATP6V0A2):c.*1620T>A rs189881056
NM_012463.4(ATP6V0A2):c.*1950G>A rs1956794312
NM_012463.4(ATP6V0A2):c.*2161C>G rs886049071
NM_012463.4(ATP6V0A2):c.*2771A>G rs1026356999
NM_012463.4(ATP6V0A2):c.*2782C>A rs183280767
NM_012463.4(ATP6V0A2):c.*3368T>G rs1956822109
NM_012463.4(ATP6V0A2):c.*564T>C rs886049066
NM_012463.4(ATP6V0A2):c.*63C>T rs576086591
NM_012463.4(ATP6V0A2):c.-170C>A rs540324717
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) rs139454557
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) rs886049061
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) rs780465961
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) rs886049062
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) rs1414004996
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) rs2135923855
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) rs1956303931
NM_013432.5(TONSL):c.122-7C>G rs2129704572
NM_013432.5(TONSL):c.1290G>C (p.Gln430His) rs770094484
NM_013432.5(TONSL):c.1471_1472del (p.Ser491fs) rs2129675776
NM_013432.5(TONSL):c.1986GCT[1] (p.Leu664del) rs745362266
NM_013432.5(TONSL):c.3809+36G>A
NM_013432.5(TONSL):c.521G>A (p.Ser174Asn) rs1188878572
NM_013432.5(TONSL):c.994G>C (p.Glu332Gln) rs1401572179
NM_014140.3(SMARCAL1):c.-262C>G rs567657407
NM_014140.4(SMARCAL1):c.-82T>C rs886055615
NM_014140.4(SMARCAL1):c.1061T>C (p.Ile354Thr)
NM_014140.4(SMARCAL1):c.1064C>A (p.Ala355Glu)
NM_014140.4(SMARCAL1):c.1071T>G (p.Phe357Leu) rs776604578
NM_014140.4(SMARCAL1):c.1076A>G (p.Gln359Arg) rs1213884759
NM_014140.4(SMARCAL1):c.109A>G (p.Ser37Gly) rs2106014375
NM_014140.4(SMARCAL1):c.119C>T (p.Thr40Ile) rs1693551035
NM_014140.4(SMARCAL1):c.1211C>A (p.Ala404Glu)
NM_014140.4(SMARCAL1):c.1211C>T (p.Ala404Val)
NM_014140.4(SMARCAL1):c.1301C>T (p.Ser434Phe)
NM_014140.4(SMARCAL1):c.1325C>G (p.Ala442Gly) rs2106029294
NM_014140.4(SMARCAL1):c.1375G>A (p.Asp459Asn) rs1574456732
NM_014140.4(SMARCAL1):c.1415C>T (p.Ala472Val)
NM_014140.4(SMARCAL1):c.1433A>G (p.Glu478Gly) rs2106033669
NM_014140.4(SMARCAL1):c.1434G>T (p.Glu478Asp)
NM_014140.4(SMARCAL1):c.1442T>C (p.Leu481Pro) rs2106033691
NM_014140.4(SMARCAL1):c.1450G>A (p.Val484Met)
NM_014140.4(SMARCAL1):c.1453G>T (p.Val485Leu) rs1574456834
NM_014140.4(SMARCAL1):c.1475C>T (p.Thr492Ile)
NM_014140.4(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.4(SMARCAL1):c.1488C>T (p.Ala496=) rs1694058200
NM_014140.4(SMARCAL1):c.148A>G (p.Lys50Glu) rs2106014433
NM_014140.4(SMARCAL1):c.1529A>G (p.Asn510Ser) rs772559717
NM_014140.4(SMARCAL1):c.1579G>T (p.Val527Phe)
NM_014140.4(SMARCAL1):c.1594C>T (p.Leu532Phe) rs968239393
NM_014140.4(SMARCAL1):c.1603T>G (p.Leu535Val) rs978339577
NM_014140.4(SMARCAL1):c.1657T>A (p.Phe553Ile) rs866600715
NM_014140.4(SMARCAL1):c.1700C>A (p.Pro567Gln)
NM_014140.4(SMARCAL1):c.1723G>A (p.Val575Met) rs2106050197
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.4(SMARCAL1):c.1762G>C (p.Ala588Pro) rs769553029
NM_014140.4(SMARCAL1):c.176G>C (p.Arg59Thr)
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg) rs199876834
NM_014140.4(SMARCAL1):c.1784T>G (p.Ile595Ser)
NM_014140.4(SMARCAL1):c.179A>C (p.Glu60Ala) rs766086132
NM_014140.4(SMARCAL1):c.1808C>G (p.Pro603Arg) rs772439671
NM_014140.4(SMARCAL1):c.1828C>G (p.Leu610Val)
NM_014140.4(SMARCAL1):c.1832G>A (p.Arg611His) rs753996369
NM_014140.4(SMARCAL1):c.1847A>G (p.Lys616Arg)
NM_014140.4(SMARCAL1):c.1850G>A (p.Arg617Gln) rs199805996
NM_014140.4(SMARCAL1):c.1851+3A>G
NM_014140.4(SMARCAL1):c.1855C>T (p.Pro619Ser) rs778421852
NM_014140.4(SMARCAL1):c.1860G>C (p.Trp620Cys) rs909012139
NM_014140.4(SMARCAL1):c.1860G>T (p.Trp620Cys)
NM_014140.4(SMARCAL1):c.1869C>G (p.Asp623Glu)
NM_014140.4(SMARCAL1):c.1910T>C (p.Leu637Pro) rs2106055162
NM_014140.4(SMARCAL1):c.1947C>A (p.Asp649Glu) rs2066526
NM_014140.4(SMARCAL1):c.1958A>G (p.Gln653Arg) rs2106055268
NM_014140.4(SMARCAL1):c.1967C>G (p.Ala656Gly)
NM_014140.4(SMARCAL1):c.1982T>G (p.Ile661Arg)
NM_014140.4(SMARCAL1):c.1987G>T (p.Val663Leu)
NM_014140.4(SMARCAL1):c.199C>A (p.His67Asn) rs1693553354
NM_014140.4(SMARCAL1):c.200A>C (p.His67Pro) rs765151021
NM_014140.4(SMARCAL1):c.2014A>G (p.Arg672Gly)
NM_014140.4(SMARCAL1):c.2016G>C (p.Arg672Ser) rs1303862591
NM_014140.4(SMARCAL1):c.2044A>G (p.Lys682Glu)
NM_014140.4(SMARCAL1):c.2045A>G (p.Lys682Arg)
NM_014140.4(SMARCAL1):c.2046G>C (p.Lys682Asn)
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln) rs1694788304
NM_014140.4(SMARCAL1):c.2099T>C (p.Leu700Pro)
NM_014140.4(SMARCAL1):c.209T>G (p.Ile70Ser) rs2106014513
NM_014140.4(SMARCAL1):c.2132_2133delinsTT (p.Pro711Leu) rs2106073109
NM_014140.4(SMARCAL1):c.2157C>G (p.Asp719Glu)
NM_014140.4(SMARCAL1):c.2185T>G (p.Leu729Val)
NM_014140.4(SMARCAL1):c.2203A>G (p.Lys735Glu)
NM_014140.4(SMARCAL1):c.2216A>C (p.Asp739Ala)
NM_014140.4(SMARCAL1):c.2221A>G (p.Ile741Val)
NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met) rs369634860
NM_014140.4(SMARCAL1):c.2244+17A>G rs2106077346
NM_014140.4(SMARCAL1):c.2245C>T (p.His749Tyr) rs764751292
NM_014140.4(SMARCAL1):c.2248G>A (p.Val750Met) rs763200185
NM_014140.4(SMARCAL1):c.2260C>G (p.Arg754Gly)
NM_014140.4(SMARCAL1):c.2261G>A (p.Arg754His)
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) rs1301876154
NM_014140.4(SMARCAL1):c.2306A>G (p.Gln769Arg)
NM_014140.4(SMARCAL1):c.2309A>G (p.Gln770Arg)
NM_014140.4(SMARCAL1):c.2320T>C (p.Ser774Pro)
NM_014140.4(SMARCAL1):c.2332G>A (p.Ala778Thr) rs746945317
NM_014140.4(SMARCAL1):c.2333C>A (p.Ala778Asp)
NM_014140.4(SMARCAL1):c.2333C>G (p.Ala778Gly)
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met) rs745349150
NM_014140.4(SMARCAL1):c.2350A>G (p.Ile784Val)
NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg) rs1695052762
NM_014140.4(SMARCAL1):c.2449C>T (p.Arg817Cys)
NM_014140.4(SMARCAL1):c.251A>G (p.Gln84Arg) rs1384951552
NM_014140.4(SMARCAL1):c.2527T>C (p.Trp843Arg) rs1323958612
NM_014140.4(SMARCAL1):c.2528+6G>C
NM_014140.4(SMARCAL1):c.2569G>A (p.Gly857Arg)
NM_014140.4(SMARCAL1):c.2589T>G (p.Phe863Leu) rs759400963
NM_014140.4(SMARCAL1):c.2599A>T (p.Thr867Ser)
NM_014140.4(SMARCAL1):c.25C>G (p.Gln9Glu)
NM_014140.4(SMARCAL1):c.2625+1G>T rs2106089962
NM_014140.4(SMARCAL1):c.2626-1G>T rs2106094746
NM_014140.4(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter) rs1559140275
NM_014140.4(SMARCAL1):c.2662_2664del (p.Lys888del) rs1460396872
NM_014140.4(SMARCAL1):c.2687A>C (p.Asp896Ala)
NM_014140.4(SMARCAL1):c.2692G>A (p.Glu898Lys)
NM_014140.4(SMARCAL1):c.2699T>C (p.Leu900Pro)
NM_014140.4(SMARCAL1):c.2738G>A (p.Gly913Glu) rs1695230816
NM_014140.4(SMARCAL1):c.2768G>A (p.Gly923Glu) rs1559140332
NM_014140.4(SMARCAL1):c.2782G>A (p.Glu928Lys)
NM_014140.4(SMARCAL1):c.2803C>G (p.Pro935Ala)
NM_014140.4(SMARCAL1):c.2810A>G (p.Lys937Arg) rs375276319
NM_014140.4(SMARCAL1):c.2823del (p.Phe941fs) rs774004064
NM_014140.4(SMARCAL1):c.2832dup (p.Asp945Ter)
NM_014140.4(SMARCAL1):c.2849T>G (p.Phe950Cys) rs1168400155
NM_014140.4(SMARCAL1):c.29G>T (p.Arg10Met)
NM_014140.4(SMARCAL1):c.313C>T (p.Pro105Ser)
NM_014140.4(SMARCAL1):c.314C>T (p.Pro105Leu)
NM_014140.4(SMARCAL1):c.319G>A (p.Ala107Thr)
NM_014140.4(SMARCAL1):c.322T>C (p.Cys108Arg)
NM_014140.4(SMARCAL1):c.325C>T (p.Pro109Ser)
NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val) rs1693557419
NM_014140.4(SMARCAL1):c.370C>T (p.Pro124Ser)
NM_014140.4(SMARCAL1):c.378G>A (p.Leu126=) rs2106014724
NM_014140.4(SMARCAL1):c.403A>G (p.Lys135Glu)
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys) rs1296535575
NM_014140.4(SMARCAL1):c.424G>A (p.Glu142Lys) rs756864375
NM_014140.4(SMARCAL1):c.426G>C (p.Glu142Asp) rs767158204
NM_014140.4(SMARCAL1):c.443C>T (p.Ala148Val)
NM_014140.4(SMARCAL1):c.454C>T (p.Pro152Ser) rs1384608239
NM_014140.4(SMARCAL1):c.508C>T (p.Pro170Ser)
NM_014140.4(SMARCAL1):c.50G>A (p.Arg17Gln)
NM_014140.4(SMARCAL1):c.521A>G (p.Gln174Arg)
NM_014140.4(SMARCAL1):c.527C>T (p.Thr176Ile)
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser) rs1693565636
NM_014140.4(SMARCAL1):c.545G>T (p.Gly182Val)
NM_014140.4(SMARCAL1):c.596C>A (p.Pro199His)
NM_014140.4(SMARCAL1):c.5C>T (p.Ser2Phe) rs771595818
NM_014140.4(SMARCAL1):c.629G>T (p.Ser210Ile) rs760336986
NM_014140.4(SMARCAL1):c.638G>T (p.Ser213Ile)
NM_014140.4(SMARCAL1):c.644C>T (p.Thr215Met)
NM_014140.4(SMARCAL1):c.662G>T (p.Arg221Ile)
NM_014140.4(SMARCAL1):c.668A>C (p.Gln223Pro) rs1316299314
NM_014140.4(SMARCAL1):c.674A>G (p.Lys225Arg) rs1378058989
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu) rs1693572522
NM_014140.4(SMARCAL1):c.68G>C (p.Arg23Pro)
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His) rs985760536
NM_014140.4(SMARCAL1):c.701T>G (p.Val234Gly) rs1184288846
NM_014140.4(SMARCAL1):c.705C>A (p.Asn235Lys)
NM_014140.4(SMARCAL1):c.714G>C (p.Lys238Asn) rs2106015223
NM_014140.4(SMARCAL1):c.724G>T (p.Val242Leu) rs375140716
NM_014140.4(SMARCAL1):c.734G>A (p.Gly245Asp) rs1574443795
NM_014140.4(SMARCAL1):c.746A>G (p.Gln249Arg)
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu) rs1693575449
NM_014140.4(SMARCAL1):c.755T>C (p.Ile252Thr) rs1693575527
NM_014140.4(SMARCAL1):c.761A>C (p.Tyr254Ser) rs368040473
NM_014140.4(SMARCAL1):c.761A>G (p.Tyr254Cys)
NM_014140.4(SMARCAL1):c.763A>G (p.Asn255Asp) rs2106015300
NM_014140.4(SMARCAL1):c.804G>C (p.Lys268Asn)
NM_014140.4(SMARCAL1):c.811+6G>A rs1269883110
NM_014140.4(SMARCAL1):c.841A>G (p.Met281Val) rs1382103008
NM_014140.4(SMARCAL1):c.863-4G>T rs1693689203
NM_014140.4(SMARCAL1):c.895C>A (p.Leu299Met) rs2106020536
NM_014140.4(SMARCAL1):c.89C>T (p.Ala30Val)
NM_014140.4(SMARCAL1):c.912G>T (p.Trp304Cys)
NM_014140.4(SMARCAL1):c.922A>G (p.Ser308Gly) rs1312214950
NM_014140.4(SMARCAL1):c.92A>G (p.Glu31Gly) rs1237615679
NM_014140.4(SMARCAL1):c.934C>G (p.Pro312Ala)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_014140.4(SMARCAL1):c.989T>A (p.Phe330Tyr)
NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp) rs145874548
NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu) rs771103623
NM_014314.4(RIGI):c.396_399del (p.Asn133fs) rs760088776
NM_014314.4(RIGI):c.816dup (p.Val273fs) rs781124785
NM_014314.4(RIGI):c.877G>C (p.Val293Leu)
NM_014694.4(ADAMTSL2):c.157T>C (p.Trp53Arg)
NM_014694.4(ADAMTSL2):c.1934G>A (p.Arg645His) rs1831023991
NM_014694.4(ADAMTSL2):c.1998C>G (p.Cys666Trp)
NM_014694.4(ADAMTSL2):c.2137T>C (p.Cys713Arg)
NM_014694.4(ADAMTSL2):c.2626C>G (p.Arg876Gly)
NM_014762.4(DHCR24):c.*1121A>G rs886046415
NM_014762.4(DHCR24):c.*1137G>C rs768244621
NM_014762.4(DHCR24):c.*1535G>A rs1646870155
NM_014762.4(DHCR24):c.*180_*181del rs886046419
NM_014762.4(DHCR24):c.*2245A>T rs886046413
NM_014762.4(DHCR24):c.*225T>C rs886046418
NM_014762.4(DHCR24):c.*426G>A rs1646876717
NM_014762.4(DHCR24):c.*434A>T rs886046417
NM_014762.4(DHCR24):c.*508T>C rs886046416
NM_014762.4(DHCR24):c.*597T>C rs1646875615
NM_014762.4(DHCR24):c.*600G>A rs184125615
NM_014762.4(DHCR24):c.-27G>C rs532827290
NM_014762.4(DHCR24):c.-27G>T rs532827290
NM_014762.4(DHCR24):c.1155G>A (p.Gln385=) rs1646893615
NM_014762.4(DHCR24):c.1228A>G (p.Ile410Val) rs1646890427
NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs) rs1570178668
NM_014762.4(DHCR24):c.1397+2T>A rs1314761103
NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) rs563822834
NM_014762.4(DHCR24):c.286G>C (p.Gly96Arg) rs2101578761
NM_014762.4(DHCR24):c.388-10G>T rs774425757
NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser) rs1557437639
NM_014762.4(DHCR24):c.726C>A (p.Phe242Leu) rs138043637
NM_014822.4(SEC24D):c.1261T>C (p.Ser421Pro)
NM_014822.4(SEC24D):c.1614-10T>A rs1404593679
NM_014822.4(SEC24D):c.719G>A (p.Gly240Glu)
NM_015103.3(PLXND1):c.2467C>A (p.Pro823Thr)
NM_015139.3(SLC35D1):c.139G>A (p.Gly47Ser)
NM_015139.3(SLC35D1):c.157T>G (p.Ser53Ala)
NM_015139.3(SLC35D1):c.169G>A (p.Val57Met)
NM_015139.3(SLC35D1):c.209C>A (p.Pro70His)
NM_015139.3(SLC35D1):c.20G>T (p.Arg7Leu) rs1222758290
NM_015139.3(SLC35D1):c.221G>A (p.Cys74Tyr)
NM_015139.3(SLC35D1):c.237+5G>C
NM_015139.3(SLC35D1):c.244G>T (p.Ala82Ser)
NM_015139.3(SLC35D1):c.24_26del (p.Gln8del) rs759849927
NM_015139.3(SLC35D1):c.376A>G (p.Ser126Gly) rs2102375722
NM_015139.3(SLC35D1):c.40G>A (p.Gly14Arg) rs1553268935
NM_015139.3(SLC35D1):c.412C>G (p.Leu138Val)
NM_015139.3(SLC35D1):c.431T>A (p.Leu144Gln)
NM_015139.3(SLC35D1):c.492G>A (p.Met164Ile) rs775048147
NM_015139.3(SLC35D1):c.50C>T (p.Pro17Leu) rs762478600
NM_015139.3(SLC35D1):c.526G>T (p.Ala176Ser) rs368016786
NM_015139.3(SLC35D1):c.553_554delinsAC (p.Leu185Thr) rs2102361914
NM_015139.3(SLC35D1):c.596C>T (p.Ala199Val)
NM_015139.3(SLC35D1):c.605G>C (p.Gly202Ala)
NM_015139.3(SLC35D1):c.738G>T (p.Glu246Asp)
NM_015139.3(SLC35D1):c.757A>G (p.Thr253Ala)
NM_015139.3(SLC35D1):c.830C>T (p.Thr277Met)
NM_015139.3(SLC35D1):c.845C>A (p.Ala282Asp)
NM_015139.3(SLC35D1):c.876+5G>A
NM_015139.3(SLC35D1):c.892T>C (p.Tyr298His)
NM_015139.3(SLC35D1):c.945T>A (p.Ile315=) rs1667509944
NM_015139.3(SLC35D1):c.976G>T (p.Val326Leu)
NM_015189.3(EXOC6B):c.925G>T (p.Glu309Ter)
NM_015330.6(SPECC1L):c.1915C>T (p.Arg639Ter) rs1601553546
NM_015330.6(SPECC1L):c.2454G>A (p.Leu818=) rs2041009092
NM_015386.3(COG4):c.2026T>C (p.Tyr676His) rs2151737380
NM_015412.4(NEPRO):c.280C>T (p.Arg94Cys) rs1236015814
NM_015425.6(POLR1A):c.1106C>G (p.Ala369Gly)
NM_015425.6(POLR1A):c.1612-3dup
NM_015425.6(POLR1A):c.1846C>T (p.Gln616Ter)
NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro) rs1673068500
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del) rs1064794956
NM_015425.6(POLR1A):c.4034+1G>T rs1672543159
NM_015425.6(POLR1A):c.4501C>T (p.Arg1501Trp)
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg) rs1206102625
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg) rs982781639
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro) rs200742071
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly) rs2139738378
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr) rs2139738242
NM_015631.6(TCTN3):c.1299-3T>C rs2097944388
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg) rs2097944204
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser) rs1190331074
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) rs143735885
NM_015631.6(TCTN3):c.1647del (p.Thr550fs) rs2139691832
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) rs2139691743
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) rs1352225292
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) rs1566062590
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile) rs2097955954
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val) rs2139768503
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly) rs2139767099
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser) rs1165732615
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg) rs1005806916
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg) rs533262975
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu) rs1489817091
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr) rs2139764940
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn) rs2139769650
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068
NM_015631.6(TCTN3):c.566A>G (p.Glu189Gly)
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
NM_015631.6(TCTN3):c.627+6C>G
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu) rs1406986953
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala) rs1389518788
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.852+4G>A rs2139748541
NM_015631.6(TCTN3):c.853-11T>C
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
NM_015631.6(TCTN3):c.888+3A>T
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
NM_015631.6(TCTN3):c.969G>T (p.Gln323His)
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys) rs745387147
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu) rs1267152740
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
NM_015874.6(RBPJ):c.140A>G (p.Tyr47Cys)
NM_015884.4(MBTPS2):c.175C>T (p.Arg59Cys) rs2092904689
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)
NM_015884.4(MBTPS2):c.670+2688G>C
NM_015909.4(NBAS):c.2065T>C (p.Leu689=) rs1131692172
NM_015909.4(NBAS):c.3577A>G (p.Met1193Val)
NM_015909.4(NBAS):c.4300G>A (p.Asp1434Asn) rs750091340
NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) rs1553367826
NM_015909.4(NBAS):c.6237-3C>G
NM_015909.4(NBAS):c.632G>T (p.Arg211Ile)
NM_015909.4(NBAS):c.886-3C>G rs765170132
NM_016277.5(RAB23):c.*117A>G rs1764790940
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.-66+5021dup
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) rs774195943
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) rs748398827
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) rs1485030118
NM_016277.5(RAB23):c.399-14A>T rs974936952
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) rs1593208594
NM_016277.5(RAB23):c.481+4A>C
NM_016277.5(RAB23):c.522dup (p.Gln175fs)
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe) rs2127996379
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487
NM_016653.3(MAP3K20):c.817T>C (p.Cys273Arg) rs1683820514
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp)
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr) rs1843317533
NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg) rs1843774247
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe) rs1843316270
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) rs1843316172
NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg) rs1843315932
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys) rs1064795070
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) rs1564199987
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) rs1843307597
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg) rs200562991
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys)
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe)
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg)
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser)
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) rs1448146225
NM_017617.5(NOTCH1):c.1442-3C>T rs1589067790
NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val) rs2133367544
NM_017617.5(NOTCH1):c.1474G>A (p.Asp492Asn)
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys) rs1554729862
NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln)
NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn)
NM_017617.5(NOTCH1):c.1487G>C (p.Ser496Thr) rs2133367463
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe) rs1843292131
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) rs1060502240
NM_017617.5(NOTCH1):c.1522A>G (p.Lys508Glu)
NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met)
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp)
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His) rs747069934
NM_017617.5(NOTCH1):c.1555+5G>A
NM_017617.5(NOTCH1):c.1555+6G>A
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg)
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn)
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg)
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His)
NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr) rs2133365061
NM_017617.5(NOTCH1):c.1669+3G>A
NM_017617.5(NOTCH1):c.1669+4C>A rs1227337588
NM_017617.5(NOTCH1):c.1669+4C>T
NM_017617.5(NOTCH1):c.1670-7G>A
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu)
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu)
NM_017617.5(NOTCH1):c.16G>A (p.Ala6Thr) rs1564217184
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met) rs773932034
NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr)
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala) rs764854903
NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile) rs1843254040
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser) rs771440130
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro) rs747384159
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg)
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr) rs1589066307
NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln)
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe) rs1843252800
NM_017617.5(NOTCH1):c.17C>A (p.Ala6Glu)
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys) rs781029850
NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly) rs774622686
NM_017617.5(NOTCH1):c.1871C>G (p.Ala624Gly)
NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val) rs2133363294
NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg)
NM_017617.5(NOTCH1):c.1894G>A (p.Gly632Arg) rs2133363267
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala) rs1843250416
NM_017617.5(NOTCH1):c.1903+15G>A
NM_017617.5(NOTCH1):c.1903+6C>G
NM_017617.5(NOTCH1):c.1904-3C>T rs748118679
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser)
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr)
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser)
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly)
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser)
NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu)
NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys) rs2133362310
NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile)
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly) rs2133361218
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys)
NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala)
NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr)
NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser)
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser)
NM_017617.5(NOTCH1):c.20C>T (p.Pro7Leu) rs1554733804
NM_017617.5(NOTCH1):c.2125C>A (p.His709Asn) rs2133360792
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp) rs376468003
NM_017617.5(NOTCH1):c.214G>A (p.Gly72Arg)
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr) rs1400821402
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val) rs1843231402
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe)
NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu)
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu) rs201889382
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn) rs1284149123
NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His)
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser) rs993388875
NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg)
NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro)
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn)
NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn)
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) rs758073507
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del)
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser)
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser) rs2133358146
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del) rs587778561
NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile)
NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys)
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser) rs2133358091
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg)
NM_017617.5(NOTCH1):c.2416T>A (p.Cys806Ser) rs1805487567
NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr) rs1265223880
NM_017617.5(NOTCH1):c.2428G>C (p.Val810Leu) rs948647691
NM_017617.5(NOTCH1):c.242G>T (p.Gly81Val)
NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala) rs1843208318
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu) rs571831870
NM_017617.5(NOTCH1):c.2452C>G (p.Leu818Val) rs199841979
NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=)
NM_017617.5(NOTCH1):c.2467+7G>T rs1843207149
NM_017617.5(NOTCH1):c.2468-5C>A rs932196144
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr)
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2504_2506del (p.Pro835_Ser836delinsArg)
NM_017617.5(NOTCH1):c.2509C>T (p.Pro837Ser) rs1843176956
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) rs754554370
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.2540C>G (p.Ser847Cys)
NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys)
NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys) rs1843175664
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser) rs373941045
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=) rs761604720
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met)
NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly)
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.2655G>C (p.Gln885His) rs2133353313
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val) rs1554728783
NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg)
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly)
NM_017617.5(NOTCH1):c.2689G>A (p.Ala897Thr) rs2133353126
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn) rs1589062647
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2702G>A (p.Gly901Glu)
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg) rs1843166003
NM_017617.5(NOTCH1):c.2717C>T (p.Thr906Ile) rs2133352988
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro)
NM_017617.5(NOTCH1):c.2741-6T>A rs2133351503
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp)
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val)
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg)
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val)
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del)
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val) rs777658333
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly) rs1843150410
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys) rs760227470
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=)
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.2969+18G>A
NM_017617.5(NOTCH1):c.2969+2TG[3]
NM_017617.5(NOTCH1):c.2969+6C>T
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile)
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser)
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=) rs2133348920
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg) rs2133379239
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) rs878855025
NM_017617.5(NOTCH1):c.3110A>G (p.Gln1037Arg) rs1408874772
NM_017617.5(NOTCH1):c.3112G>A (p.Asp1038Asn) rs2133348754
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg) rs1060502235
NM_017617.5(NOTCH1):c.3137C>A (p.Thr1046Asn)
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr) rs1843132240
NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His)
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile)
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys) rs1431940702
NM_017617.5(NOTCH1):c.3171+3G>A
NM_017617.5(NOTCH1):c.3171+6del
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr) rs766126767
NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr) rs1843122994
NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile) rs1843122920
NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr) rs1233569898
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu) rs758471372
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln) rs766361207
NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg)
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn)
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp)
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys)
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met)
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu)
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala) rs772310059
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro)
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg) rs1843118145
NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val)
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr) rs1589060802
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn) rs1564192948
NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His) rs1336014812
NM_017617.5(NOTCH1):c.3401_3402delinsTT (p.Gln1134Leu)
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) rs1554728380
NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser)
NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr) rs1843116111
NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg) rs1354855330
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
NM_017617.5(NOTCH1):c.3510+17G>A
NM_017617.5(NOTCH1):c.3510+18G>A
NM_017617.5(NOTCH1):c.3510+3G>C rs372739350
NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser) rs1272399533
NM_017617.5(NOTCH1):c.3530G>C (p.Gly1177Ala)
NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys)
NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr) rs1218904003
NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro)
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del) rs1370411882
NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe)
NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr)
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro)
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val) rs1473062369
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys) rs1843104558
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr)
NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu) rs561646185
NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala)
NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His)
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu)
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu) rs1478449371
NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala)
NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile)
NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly)
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=)
NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe) rs779240492
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu) rs1589072528
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu)
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) rs1406056612
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp) rs377289044
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.3868G>A (p.Asp1290Asn)
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
NM_017617.5(NOTCH1):c.3880G>A (p.Glu1294Lys)
NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser) rs1056341092
NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val)
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=)
NM_017617.5(NOTCH1):c.3901+4G>A
NM_017617.5(NOTCH1):c.3901+5G>A
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln)
NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn)
NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser)
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) rs896438598
NM_017617.5(NOTCH1):c.4001G>A (p.Cys1334Tyr)
NM_017617.5(NOTCH1):c.4014+9A>G rs1843087537
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4015-6G>A
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp)
NM_017617.5(NOTCH1):c.403+3G>A
NM_017617.5(NOTCH1):c.403+3del rs2133378865
NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr) rs553328686
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) rs150343794
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) rs1274662962
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro) rs1589059022
NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser)
NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr)
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)
NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu) rs1843073620
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser) rs1589058950
NM_017617.5(NOTCH1):c.4142C>T (p.Pro1381Leu) rs752551426
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg) rs2133340569
NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu)
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser) rs1416597670
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu)
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser)
NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys) rs2133340251
NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys) rs1348438354
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) rs1554728005
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val) rs1363126385
NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile) rs1843069355
NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg) rs751904604
NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala) rs1247192040
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser) rs746077264
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr)
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.436_450dup (p.Ala150_Asn151insSerAsnProCysAla)
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn) rs2133339457
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile)
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val) rs779863069
NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr) rs1414066424
NM_017617.5(NOTCH1):c.4411G>T (p.Ala1471Ser)
NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu)
NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly) rs376799353
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp) rs1843065776
NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu)
NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp)
NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys)
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly) rs1843065225
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg)
NM_017617.5(NOTCH1):c.44C>G (p.Pro15Arg)
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg) rs1243264280
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg) rs1843064220
NM_017617.5(NOTCH1):c.4520G>A (p.Ser1507Asn)
NM_017617.5(NOTCH1):c.4586+6G>T
NM_017617.5(NOTCH1):c.4587-8C>A rs1470543120
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr)
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg) rs533102436
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp)
NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala) rs781602537
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met)
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu)
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) rs1333725995
NM_017617.5(NOTCH1):c.4740G>A (p.Met1580Ile) rs990474354
NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser) rs769288225
NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys)
NM_017617.5(NOTCH1):c.4763G>A (p.Ser1588Asn) rs1843055486
NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro) rs1490218456
NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln)
NM_017617.5(NOTCH1):c.4776C>A (p.Phe1592Leu) rs752861485
NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro)
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile) rs1564190486
NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg) rs2133336705
NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro)
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg)
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val) rs1554727837
NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser) rs1166328821
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del)
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys)
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln) rs1843052920
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp) rs1275439825
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) rs878855026
NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro)
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro)
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=) rs1589058142
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del)
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His) rs1381525257
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)
NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu)
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr)
NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile)
NM_017617.5(NOTCH1):c.5018+5G>A
NM_017617.5(NOTCH1):c.5018+6_5018+9del
NM_017617.5(NOTCH1):c.5019-3C>T
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile) rs1261408162
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly)
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr) rs1443819558
NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg)
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp)
NM_017617.5(NOTCH1):c.5138A>C (p.Asn1713Thr) rs200053816
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val) rs2133333190
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met)
NM_017617.5(NOTCH1):c.5167+3A>G rs1025172473
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn)
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met)
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp) rs1843014055
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro) rs771225163
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile)
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly)
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp)
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe) rs1843012177
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) rs1564203258
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys) rs1843011278
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg)
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val)
NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala)
NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro) rs986394043
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly) rs1422917398
NM_017617.5(NOTCH1):c.5350C>G (p.Arg1784Gly) rs1843010487
NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser) rs1843010413
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser) rs1843010334
NM_017617.5(NOTCH1):c.5384+3G>C rs1843010026
NM_017617.5(NOTCH1):c.5385-2dup
NM_017617.5(NOTCH1):c.5385-3C>T
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser)
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp)
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile) rs556708225
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly) rs1589056398
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys) rs1843005451
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly) rs2133329831
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln) rs2133329789
NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg)
NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp)
NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu)
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys)
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg) rs1843399830
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) rs73668312
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu)
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg)
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) rs878855027
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro) rs1843001736
NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu)
NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr)
NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser)
NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly) rs1370862526
NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu) rs2133377659
NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg)
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp) rs2133328665
NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe)
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe)
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu) rs545259523
NM_017617.5(NOTCH1):c.5671A>G (p.Ser1891Gly) rs2133326726
NM_017617.5(NOTCH1):c.5678G>T (p.Gly1893Val) rs1292487339
NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys) rs747229390
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly) rs200190466
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp)
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro) rs2133326413
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)
NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln)
NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys)
NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg) rs1842981791
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met) rs1554826860
NM_017617.5(NOTCH1):c.578G>T (p.Gly193Val) rs774966208
NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser) rs1842981231
NM_017617.5(NOTCH1):c.5806G>T (p.Ala1936Ser)
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) rs1036442909
NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly)
NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn)
NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr)
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met) rs1842979490
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys)
NM_017617.5(NOTCH1):c.5934+6C>T
NM_017617.5(NOTCH1):c.5965G>C (p.Asp1989His)
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu) rs1554733799
NM_017617.5(NOTCH1):c.6000C>G (p.Ile2000Met)
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys) rs1589054589
NM_017617.5(NOTCH1):c.6026G>A (p.Gly2009Asp)
NM_017617.5(NOTCH1):c.6029T>C (p.Met2010Thr) rs2133322772
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys)
NM_017617.5(NOTCH1):c.6082+3G>A
NM_017617.5(NOTCH1):c.6082+5G>A rs1280026920
NM_017617.5(NOTCH1):c.6082+6C>G
NM_017617.5(NOTCH1):c.6083-3C>T
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.6116A>G (p.Asn2039Ser)
NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) rs1554826688
NM_017617.5(NOTCH1):c.6130G>T (p.Ala2044Ser)
NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala) rs1374171839
NM_017617.5(NOTCH1):c.6147G>C (p.Lys2049Asn) rs2133321599
NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala) rs1589054356
NM_017617.5(NOTCH1):c.6157A>C (p.Asn2053His) rs1474607963
NM_017617.5(NOTCH1):c.6157A>G (p.Asn2053Asp)
NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp)
NM_017617.5(NOTCH1):c.6180+1G>T rs1842955649
NM_017617.5(NOTCH1):c.6180+3G>T
NM_017617.5(NOTCH1):c.6180+6C>T
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys)
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys)
NM_017617.5(NOTCH1):c.62-3T>C rs2133406300
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg)
NM_017617.5(NOTCH1):c.6232A>G (p.Lys2078Glu) rs1186927156
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly) rs1215496202
NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr)
NM_017617.5(NOTCH1):c.6269C>T (p.Thr2090Met) rs1215473021
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro) rs1554826539
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys) rs1307220376
NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His) rs1842934984
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu) rs746682300
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg)
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr) rs2133318919
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser)
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=) rs1390112624
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs) rs1842932983
NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser)
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser) rs1842932370
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser) rs1035043614
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys)
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr) rs1564568574
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)
NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp)
NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser)
NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg)
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr) rs1060502234
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg) rs2133318027
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His)
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=) rs1842929880
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)
NM_017617.5(NOTCH1):c.6598G>A (p.Val2200Met)
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg)
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser) rs1842928462
NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg)
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala)
NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser)
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln) rs1842927243
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro)
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys) rs372771288
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr) rs1436539393
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val)
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu) rs1843395886
NM_017617.5(NOTCH1):c.6791T>A (p.Leu2264Gln) rs2133317177
NM_017617.5(NOTCH1):c.6793G>C (p.Ala2265Pro)
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del)
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn) rs763183789
NM_017617.5(NOTCH1):c.6869G>T (p.Ser2290Ile) rs763183789
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val)
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe)
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp) rs756653663
NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro)
NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn)
NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala)
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro)
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr)
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg)
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile)
NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His)
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val)
NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del)
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys)
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr) rs780869345
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg)
NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val) rs2133316248
NM_017617.5(NOTCH1):c.7138G>C (p.Val2380Leu) rs769693988
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile) rs1564567924
NM_017617.5(NOTCH1):c.7147C>T (p.Gln2383Ter) rs759362012
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys) rs1036612594
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu)
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg) rs1564567879
NM_017617.5(NOTCH1):c.7198G>A (p.Ala2400Thr) rs1842917839
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) rs61751486
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val)
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7232CAC[7] (p.Pro2414_Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg) rs1842916921
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu)
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu) rs768311067
NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met) rs2133315021
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs) rs2133314943
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met) rs763785541
NM_017617.5(NOTCH1):c.743-3C>A rs778646322
NM_017617.5(NOTCH1):c.743-5G>A
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser) rs551150550
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)
NM_017617.5(NOTCH1):c.7510G>A (p.Val2504Met) rs2133314443
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro) rs1554826340
NM_017617.5(NOTCH1):c.752G>T (p.Gly251Val) rs749943647
NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn)
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=)
NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser)
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg)
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)
NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr) rs182522714
NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val) rs2133313653
NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp)
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg) rs2133372814
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val)
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys)
NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala)
NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp)
NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser)
NM_017617.5(NOTCH1):c.865+11G>A
NM_017617.5(NOTCH1):c.865+2C>T rs1164392989
NM_017617.5(NOTCH1):c.865+4C>T rs527248111
NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala)
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His)
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro)
NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys)
NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg) rs1843318767
NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser) rs2133406228
NM_017633.3(TENT5A):c.204G>T (p.Trp68Cys)
NM_017633.3(TENT5A):c.749dup (p.Met251fs) rs2127726557
NM_018010.4(IFT57):c.463G>T (p.Ala155Ser)
NM_018060.4(IARS2):c.1255G>A (p.Asp419Asn) rs745601033
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu) rs747014267
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) rs373436822
NM_018060.4(IARS2):c.991G>A (p.Val331Ile)
NM_018062.4(FANCL):c.*128G>A rs781556579
NM_018062.4(FANCL):c.*165A>C rs866675905
NM_018062.4(FANCL):c.*165A>G rs866675905
NM_018062.4(FANCL):c.*281C>G rs951671744
NM_018062.4(FANCL):c.*434A>G rs1395685917
NM_018062.4(FANCL):c.*447_*450del rs748896681
NM_018062.4(FANCL):c.*89C>T rs1684780470
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg) rs1558727863
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr) rs748875030
NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala) rs748875030
NM_018062.4(FANCL):c.1093-13T>A
NM_018062.4(FANCL):c.1096A>G (p.Ile366Val)
NM_018062.4(FANCL):c.1109T>C (p.Met370Thr) rs1684813547
NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)
NM_018062.4(FANCL):c.1123C>G (p.His375Asp)
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
NM_018062.4(FANCL):c.134A>T (p.Asp45Val) rs1573820532
NM_018062.4(FANCL):c.136T>A (p.Leu46Ile) rs781357185
NM_018062.4(FANCL):c.136T>G (p.Leu46Val)
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys) rs1693636944
NM_018062.4(FANCL):c.156-3T>G
NM_018062.4(FANCL):c.159A>C (p.Leu53Phe)
NM_018062.4(FANCL):c.163T>A (p.Cys55Ser)
NM_018062.4(FANCL):c.167G>C (p.Ser56Thr) rs778972805
NM_018062.4(FANCL):c.181A>G (p.Thr61Ala)
NM_018062.4(FANCL):c.191G>A (p.Ser64Asn) rs1693400339
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln) rs143819820
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn) rs376224867
NM_018062.4(FANCL):c.20G>C (p.Ser7Thr) rs376224867
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile) rs376224867
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg) rs200559825
NM_018062.4(FANCL):c.224A>G (p.Gln75Arg) rs754363760
NM_018062.4(FANCL):c.226C>T (p.His76Tyr) rs1693047999
NM_018062.4(FANCL):c.229T>C (p.Ser77Pro)
NM_018062.4(FANCL):c.22C>A (p.Leu8Met) rs764378405
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
NM_018062.4(FANCL):c.241A>G (p.Met81Val) rs1440897827
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
NM_018062.4(FANCL):c.252G>A (p.Met84Ile)
NM_018062.4(FANCL):c.259T>A (p.Leu87Met)
NM_018062.4(FANCL):c.267G>T (p.Met89Ile) rs1378650753
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys) rs2103754665
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe) rs370409722
NM_018062.4(FANCL):c.27G>T (p.Leu9Phe)
NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys) rs1196510455
NM_018062.4(FANCL):c.308C>T (p.Ala103Val) rs746623168
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala) rs754028115
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg) rs2103752897
NM_018062.4(FANCL):c.350A>C (p.Glu117Ala) rs2103752683
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr) rs2104082854
NM_018062.4(FANCL):c.35G>C (p.Cys12Ser)
NM_018062.4(FANCL):c.361C>T (p.Leu121Phe)
NM_018062.4(FANCL):c.365G>T (p.Gly122Val) rs2103752402
NM_018062.4(FANCL):c.374+3A>G rs999309828
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.378T>A (p.Leu126=) rs746200741
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr) rs1690340999
NM_018062.4(FANCL):c.408C>G (p.Ile136Met) rs1389670408
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly) rs756000370
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr) rs2105147558
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
NM_018062.4(FANCL):c.44T>A (p.Leu15His) rs1694519859
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
NM_018062.4(FANCL):c.471+16A>G rs1026741275
NM_018062.4(FANCL):c.472-6T>A
NM_018062.4(FANCL):c.476C>T (p.Pro159Leu)
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr) rs2105101201
NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys) rs2105100994
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys) rs1689674094
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) rs1573532439
NM_018062.4(FANCL):c.550A>G (p.Ile184Val) rs2104818711
NM_018062.4(FANCL):c.556A>G (p.Ile186Val) rs1685886480
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
NM_018062.4(FANCL):c.578C>T (p.Ala193Val) rs2104818267
NM_018062.4(FANCL):c.57C>G (p.Asn19Lys) rs1694517921
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
NM_018062.4(FANCL):c.5C>T (p.Ala2Val) rs551142193
NM_018062.4(FANCL):c.608T>C (p.Val203Ala) rs1453411120
NM_018062.4(FANCL):c.608T>G (p.Val203Gly) rs1453411120
NM_018062.4(FANCL):c.612G>A (p.Met204Ile)
NM_018062.4(FANCL):c.614A>C (p.Asp205Ala)
NM_018062.4(FANCL):c.614A>G (p.Asp205Gly)
NM_018062.4(FANCL):c.625_627del (p.Glu209del) rs1348381378
NM_018062.4(FANCL):c.626A>G (p.Glu209Gly)
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
NM_018062.4(FANCL):c.637G>C (p.Val213Leu) rs2104817334
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly) rs1360050423
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu) rs761742545
NM_018062.4(FANCL):c.671C>A (p.Thr224Lys) rs779439089
NM_018062.4(FANCL):c.676C>T (p.Arg226Cys)
NM_018062.4(FANCL):c.677G>T (p.Arg226Leu)
NM_018062.4(FANCL):c.680G>C (p.Arg227Thr)
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro) rs1383696633
NM_018062.4(FANCL):c.719T>C (p.Val240Ala) rs1195674676
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile) rs2104800049
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu) rs780414432
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe) rs1331385236
NM_018062.4(FANCL):c.763G>A (p.Gly255Arg) rs2104799685
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly) rs781438290
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln) rs1694515857
NM_018062.4(FANCL):c.775+10C>G rs751857451
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.775+6A>G
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_018062.4(FANCL):c.776-13_776-10del rs374236117
NM_018062.4(FANCL):c.776-6C>G rs1359670933
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_018062.4(FANCL):c.795T>C (p.Ile265=) rs1685442755
NM_018062.4(FANCL):c.801G>A (p.Leu267=)
NM_018062.4(FANCL):c.803G>A (p.Ser268Asn)
NM_018062.4(FANCL):c.805A>C (p.Arg269=)
NM_018062.4(FANCL):c.80G>T (p.Gly27Val)
NM_018062.4(FANCL):c.814C>G (p.His272Asp) rs1047208127
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser) rs935920468
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg) rs2104794990
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser) rs1573513610
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp) rs763615183
NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)
NM_018062.4(FANCL):c.902C>G (p.Ser301Cys) rs1405173705
NM_018062.4(FANCL):c.903+6T>A
NM_018062.4(FANCL):c.904-4G>T rs757211531
NM_018062.4(FANCL):c.904-9_904-7del rs757041554
NM_018062.4(FANCL):c.904-9del rs779011743
NM_018062.4(FANCL):c.908T>G (p.Phe303Cys)
NM_018062.4(FANCL):c.911C>T (p.Thr304Ile) rs746454771
NM_018062.4(FANCL):c.913A>G (p.Met305Val) rs553742734
NM_018062.4(FANCL):c.913A>T (p.Met305Leu) rs553742734
NM_018062.4(FANCL):c.914T>C (p.Met305Thr)
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu) rs2104783676
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser) rs2104783559
NM_018062.4(FANCL):c.942A>G (p.Gln314=) rs1163349462
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser) rs1060501896
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
NM_018062.4(FANCL):c.96+4C>A rs1279339819
NM_018062.4(FANCL):c.96+6C>T rs544743506
NM_018062.4(FANCL):c.965A>G (p.Gln322Arg)
NM_018062.4(FANCL):c.967G>A (p.Val323Met) rs763057392
NM_018062.4(FANCL):c.967G>T (p.Val323Leu) rs763057392
NM_018062.4(FANCL):c.971G>C (p.Cys324Ser) rs1685176362
NM_018062.4(FANCL):c.974A>T (p.Asp325Val)
NM_018062.4(FANCL):c.984G>T (p.Gln328His)
NM_018112.3(TMEM38B):c.390C>A (p.Val130=) rs376335301
NM_018112.3(TMEM38B):c.661-8del rs751973432
NM_018124.4(RFWD3):c.1189G>C (p.Val397Leu) rs1567572985
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)
NM_018475.5(TMEM165):c.*121T>A rs1722162103
NM_018475.5(TMEM165):c.124C>T (p.Arg42Trp)
NM_018475.5(TMEM165):c.143C>T (p.Ala48Val)
NM_018475.5(TMEM165):c.163C>G (p.Pro55Ala)
NM_018475.5(TMEM165):c.164C>A (p.Pro55Gln) rs1436584785
NM_018475.5(TMEM165):c.17_18delinsGG (p.Pro6Arg)
NM_018475.5(TMEM165):c.185G>T (p.Gly62Val)
NM_018475.5(TMEM165):c.191A>G (p.Glu64Gly) rs1720726251
NM_018475.5(TMEM165):c.196G>T (p.Ala66Ser)
NM_018475.5(TMEM165):c.207+3G>A rs1720727389
NM_018475.5(TMEM165):c.218C>T (p.Thr73Ile)
NM_018475.5(TMEM165):c.242A>G (p.Asn81Ser)
NM_018475.5(TMEM165):c.295G>A (p.Ala99Thr)
NM_018475.5(TMEM165):c.35C>G (p.Ser12Trp)
NM_018475.5(TMEM165):c.400A>G (p.Met134Val)
NM_018475.5(TMEM165):c.402G>A (p.Met134Ile)
NM_018475.5(TMEM165):c.41C>T (p.Pro14Leu) rs2109509637
NM_018475.5(TMEM165):c.43C>T (p.Arg15Trp)
NM_018475.5(TMEM165):c.464C>G (p.Pro155Arg)
NM_018475.5(TMEM165):c.527G>A (p.Arg176Gln)
NM_018475.5(TMEM165):c.612T>G (p.Phe204Leu)
NM_018475.5(TMEM165):c.690G>C (p.Leu230Phe) rs2109553145
NM_018475.5(TMEM165):c.712G>A (p.Val238Ile)
NM_018475.5(TMEM165):c.724A>T (p.Thr242Ser)
NM_018475.5(TMEM165):c.733_738del (p.Phe245_Leu246del)
NM_018475.5(TMEM165):c.772A>G (p.Ile258Val)
NM_018475.5(TMEM165):c.781G>A (p.Ala261Thr)
NM_018475.5(TMEM165):c.792+4_792+5insTATTTGA rs2109553419
NM_018475.5(TMEM165):c.811G>T (p.Val271Leu) rs764212150
NM_018475.5(TMEM165):c.824T>C (p.Val275Ala) rs1455810384
NM_018475.5(TMEM165):c.82C>G (p.Pro28Ala)
NM_018475.5(TMEM165):c.833G>A (p.Cys278Tyr) rs2109566525
NM_018475.5(TMEM165):c.892A>G (p.Arg298Gly) rs1310344895
NM_018475.5(TMEM165):c.899-6T>G rs2109568314
NM_018475.5(TMEM165):c.8C>T (p.Ala3Val)
NM_018475.5(TMEM165):c.929C>T (p.Ala310Val)
NM_018475.5(TMEM165):c.92T>C (p.Val31Ala) rs1720719387
NM_018475.5(TMEM165):c.952A>G (p.Ile318Val) rs1318388651
NM_018486.3(HDAC8):c.-5G>T rs587783662
NM_018486.3(HDAC8):c.1005+5G>A
NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys) rs1555949010
NM_018486.3(HDAC8):c.104C>T (p.Pro35Leu) rs782296225
NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr)
NM_018486.3(HDAC8):c.111+6G>A
NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg)
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met)
NM_018486.3(HDAC8):c.111G>C (p.Arg37=)
NM_018486.3(HDAC8):c.1126G>A (p.Val376Met)
NM_018486.3(HDAC8):c.134T>C (p.Ile45Thr) rs2147614771
NM_018486.3(HDAC8):c.164+4del rs2147614572
NM_018486.3(HDAC8):c.182T>G (p.Val61Gly) rs2051901690
NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu)
NM_018486.3(HDAC8):c.24G>A (p.Ala8=) rs61736843
NM_018486.3(HDAC8):c.291G>A (p.Gly97=)
NM_018486.3(HDAC8):c.296-13T>G
NM_018486.3(HDAC8):c.29G>A (p.Ser10Asn) rs2147618964
NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr)
NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg)
NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg)
NM_018486.3(HDAC8):c.383A>T (p.Asp128Val)
NM_018486.3(HDAC8):c.418G>A (p.Gly140Arg) rs1569412360
NM_018486.3(HDAC8):c.421_423del (p.Trp141del) rs587783664
NM_018486.3(HDAC8):c.43G>A (p.Val15Ile)
NM_018486.3(HDAC8):c.440A>T (p.Asp147Val)
NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln)
NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu) rs2148144312
NM_018486.3(HDAC8):c.508G>A (p.Glu170Lys) rs1556012224
NM_018486.3(HDAC8):c.587T>C (p.Met196Thr)
NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn)
NM_018486.3(HDAC8):c.602A>T (p.His201Leu)
NM_018486.3(HDAC8):c.640G>A (p.Val214Met)
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534
NM_018486.3(HDAC8):c.683A>T (p.Asn228Ile) rs2148124551
NM_018486.3(HDAC8):c.68A>C (p.Glu23Ala) rs2147618656
NM_018486.3(HDAC8):c.717A>T (p.Lys239Asn)
NM_018486.3(HDAC8):c.731G>A (p.Cys244Tyr)
NM_018486.3(HDAC8):c.737+3A>G
NM_018486.3(HDAC8):c.737+6G>A
NM_018486.3(HDAC8):c.738-1619G>A rs2148050178
NM_018486.3(HDAC8):c.738-9969T>C rs782287729
NM_018486.3(HDAC8):c.822G>A (p.Met274Ile)
NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu)
NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro)
NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu)
NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp) rs2148039310
NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser)
NM_018486.3(HDAC8):c.938G>A (p.Arg313Gln)
NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala)
NM_018946.4(NANS):c.668T>C (p.Ile223Thr)
NM_018946.4(NANS):c.937A>G (p.Thr313Ala)
NM_019074.4(DLL4):c.1240+5G>C rs1555393082
NM_019074.4(DLL4):c.1429G>T (p.Val477Leu)
NM_019074.4(DLL4):c.265_267del (p.Phe89del) rs1555392837
NM_019074.4(DLL4):c.382G>A (p.Asp128Asn) rs374022749
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_019885.4(CYP26B1):c.1333C>T (p.His445Tyr) rs1676614895
NM_020223.4(FAM20C):c.1375C>T (p.Arg459Cys) rs1232400875
NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) rs371584776
NM_020223.4(FAM20C):c.1690A>C (p.Asn564His) rs36139924
NM_020223.4(FAM20C):c.600G>C (p.Pro200=) rs201631664
NM_020223.4(FAM20C):c.838G>A (p.Gly280Arg) rs779708323
NM_020297.4(ABCC9):c.1008T>C (p.Thr336=) rs778283866
NM_020297.4(ABCC9):c.1165-4del rs886049172
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.1247T>C (p.Leu416Ser) rs1948252880
NM_020297.4(ABCC9):c.133T>C (p.Leu45=) rs1555125400
NM_020297.4(ABCC9):c.146G>C (p.Trp49Ser) rs886049175
NM_020297.4(ABCC9):c.1657G>T (p.Ala553Ser) rs2137747839
NM_020297.4(ABCC9):c.1670C>G (p.Thr557Ser) rs886049171
NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala) rs878854783
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=) rs780071007
NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter) rs1194330942
NM_020297.4(ABCC9):c.2238-16del rs886049170
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter) rs779866340
NM_020297.4(ABCC9):c.2481T>C (p.Tyr827=) rs1945402350
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser) rs1373377020
NM_020297.4(ABCC9):c.2863G>A (p.Glu955Lys) rs1452956891
NM_020297.4(ABCC9):c.295T>A (p.Ser99Thr) rs1270249014
NM_020297.4(ABCC9):c.3141T>C (p.Ile1047=) rs1944562003
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) rs886049174
NM_020297.4(ABCC9):c.4014del (p.Gly1339fs) rs2137173765
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.4512+693G>T rs876657737
NM_020297.4(ABCC9):c.4512+824G>C rs1941745235
NM_020297.4(ABCC9):c.669G>T (p.Leu223=) rs17846788
NM_020297.4(ABCC9):c.6C>T (p.Ser2=) rs765382139
NM_020297.4(ABCC9):c.723G>T (p.Lys241Asn) rs1948578084
NM_020297.4(ABCC9):c.7C>G (p.Leu3Val) rs976596252
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr)
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)
NM_020436.5(SALL4):c.122G>A (p.Gly41Glu)
NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg)
NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro)
NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys)
NM_020436.5(SALL4):c.1358A>T (p.Asn453Ile)
NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg) rs2078036143
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)
NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp)
NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del)
NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln)
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)
NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro) rs1415936268
NM_020436.5(SALL4):c.2049C>G (p.Cys683Trp)
NM_020436.5(SALL4):c.2065G>A (p.Glu689Lys)
NM_020436.5(SALL4):c.2074G>A (p.Asp692Asn)
NM_020436.5(SALL4):c.2081A>C (p.Glu694Ala)
NM_020436.5(SALL4):c.2114C>G (p.Ser705Cys)
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
NM_020436.5(SALL4):c.2234G>A (p.Arg745His)
NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala)
NM_020436.5(SALL4):c.2370G>A (p.Pro790=) rs570760124
NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn) rs147768774
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) rs2078023413
NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu)
NM_020436.5(SALL4):c.250A>G (p.Ile84Val) rs1601172072
NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys) rs756470912
NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) rs2078012508
NM_020436.5(SALL4):c.2704A>G (p.Ile902Val) rs2122959420
NM_020436.5(SALL4):c.2743-3T>C
NM_020436.5(SALL4):c.2765C>T (p.Ala922Val)
NM_020436.5(SALL4):c.2782C>T (p.Arg928Cys)
NM_020436.5(SALL4):c.2816T>G (p.Met939Arg) rs770912668
NM_020436.5(SALL4):c.2944G>A (p.Val982Met)
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) rs138891224
NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg)
NM_020436.5(SALL4):c.2984T>G (p.Val995Gly) rs1601162110
NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)
NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)
NM_020436.5(SALL4):c.31C>T (p.His11Tyr)
NM_020436.5(SALL4):c.412G>A (p.Gly138Ser)
NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu)
NM_020436.5(SALL4):c.485C>T (p.Pro162Leu)
NM_020436.5(SALL4):c.526G>A (p.Val176Met)
NM_020436.5(SALL4):c.540_541inv (p.Val181Met)
NM_020436.5(SALL4):c.575C>A (p.Ala192Glu)
NM_020436.5(SALL4):c.593C>T (p.Ala198Val)
NM_020436.5(SALL4):c.596A>G (p.Asp199Gly)
NM_020436.5(SALL4):c.599C>T (p.Ala200Val)
NM_020436.5(SALL4):c.646G>A (p.Glu216Lys)
NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr) rs774714248
NM_020436.5(SALL4):c.770T>G (p.Leu257Arg)
NM_020436.5(SALL4):c.776C>T (p.Thr259Ile)
NM_020436.5(SALL4):c.853T>C (p.Ser285Pro)
NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)
NM_020436.5(SALL4):c.986G>A (p.Arg329His)
NM_020754.4(ARHGAP31):c.-172CCCGCGG[3] rs886057796
NM_020754.4(ARHGAP31):c.1063G>T (p.Val355Leu)
NM_020754.4(ARHGAP31):c.1220C>A (p.Ala407Asp)
NM_020754.4(ARHGAP31):c.1276C>G (p.Arg426Gly)
NM_020754.4(ARHGAP31):c.1345A>G (p.Lys449Glu)
NM_020754.4(ARHGAP31):c.142C>T (p.His48Tyr) rs2080244695
NM_020754.4(ARHGAP31):c.1462G>C (p.Glu488Gln)
NM_020754.4(ARHGAP31):c.1487T>C (p.Leu496Pro)
NM_020754.4(ARHGAP31):c.1807G>A (p.Glu603Lys)
NM_020754.4(ARHGAP31):c.2411C>A (p.Pro804Gln) rs760373610
NM_020754.4(ARHGAP31):c.2471C>T (p.Ser824Phe) rs1395872373
NM_020754.4(ARHGAP31):c.3199A>G (p.Ser1067Gly)
NM_020754.4(ARHGAP31):c.3223G>A (p.Val1075Met)
NM_020754.4(ARHGAP31):c.3247G>A (p.Glu1083Lys) rs2107647546
NM_020754.4(ARHGAP31):c.349-9_349-7del rs771235886
NM_020754.4(ARHGAP31):c.3545G>A (p.Ser1182Asn)
NM_020754.4(ARHGAP31):c.3635T>C (p.Ile1212Thr)
NM_020754.4(ARHGAP31):c.3698A>T (p.Gln1233Leu)
NM_020754.4(ARHGAP31):c.4289G>A (p.Arg1430Gln)
NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)
NM_020754.4(ARHGAP31):c.745A>G (p.Ser249Gly) rs2080497464
NM_020779.4(WDR35):c.*1005C>A rs746476400
NM_020779.4(WDR35):c.*1270C>T rs568999408
NM_020779.4(WDR35):c.*1461A>C rs886055400
NM_020779.4(WDR35):c.*1637C>T rs1669848389
NM_020779.4(WDR35):c.*16T>C rs1669898811
NM_020779.4(WDR35):c.*1754C>G rs1188052659
NM_020779.4(WDR35):c.*1934A>G rs886055399
NM_020779.4(WDR35):c.*1960G>T rs1669835588
NM_020779.4(WDR35):c.*2029GTCT[1] rs566446459
NM_020779.4(WDR35):c.*2239G>A rs1042042509
NM_020779.4(WDR35):c.*2341G>C rs886055397
NM_020779.4(WDR35):c.*2629T>A rs1001737898
NM_020779.4(WDR35):c.*271A>G rs994131640
NM_020779.4(WDR35):c.*2962C>T rs886055393
NM_020779.4(WDR35):c.*2990G>T rs781556463
NM_020779.4(WDR35):c.*635C>T rs1669878199
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys) rs1572375239
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu) rs1228739567
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu) rs2103444974
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val) rs1418266904
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
NM_020779.4(WDR35):c.1392G>T (p.Gly464=) rs1476590827
NM_020779.4(WDR35):c.1400+6del
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys) rs1462353387
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala) rs2103417008
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser) rs2103416923
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu) rs1416766008
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile) rs748998292
NM_020779.4(WDR35):c.1846-7T>A rs1479233566
NM_020779.4(WDR35):c.1866A>G (p.Gly622=) rs2103410659
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu) rs775076264
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys) rs2103405475
NM_020779.4(WDR35):c.2129G>A (p.Arg710His) rs370797645
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu) rs144493712
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val) rs1670697417
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln) rs1670696748
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg) rs748153278
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
NM_020779.4(WDR35):c.24+4A>G rs780961583
NM_020779.4(WDR35):c.2400T>C (p.Ala800=) rs886055404
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg) rs2103403345
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys) rs768049606
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) rs886055403
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg) rs2103399882
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser) rs2103463081
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) rs1670554390
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu) rs2103398404
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser) rs2103398314
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn) rs376786810
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
NM_020779.4(WDR35):c.2823G>A (p.Lys941=) rs2103398260
NM_020779.4(WDR35):c.2856A>G (p.Lys952=) rs755843830
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn) rs1558328135
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly) rs886055402
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu) rs750968053
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs1184414721
NM_020779.4(WDR35):c.297G>A (p.Met99Ile) rs779065567
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del) rs746953019
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile) rs201153804
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala) rs886055406
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
NM_020779.4(WDR35):c.3162G>A (p.Val1054=) rs2103378366
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys) rs2103378015
NM_020779.4(WDR35):c.3362+6C>T
NM_020779.4(WDR35):c.3363-29_3363-18del rs1270558293
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg) rs1558317812
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) rs1558317742
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) rs1669900626
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
NM_020779.4(WDR35):c.436+4A>G rs1672290200
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
NM_020779.4(WDR35):c.497C>T (p.Ala166Val) rs374556044
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) rs1553322982
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
NM_020779.4(WDR35):c.837G>C (p.Gln279His) rs764069624
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
NM_020812.4(DOCK6):c.100C>G (p.His34Asp) rs201065561
NM_020812.4(DOCK6):c.292G>A (p.Gly98Arg)
NM_020812.4(DOCK6):c.3125T>A (p.Met1042Lys)
NM_020812.4(DOCK6):c.3616A>G (p.Ile1206Val)
NM_020812.4(DOCK6):c.4339-8G>A
NM_020812.4(DOCK6):c.521G>A (p.Arg174His)
NM_020812.4(DOCK6):c.5272G>A (p.Gly1758Ser)
NM_020812.4(DOCK6):c.5345T>C (p.Ile1782Thr) rs866624292
NM_020812.4(DOCK6):c.5615G>C (p.Arg1872Pro)
NM_020812.4(DOCK6):c.804C>T (p.Leu268=)
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.1760G>C (p.Arg587Thr)
NM_020928.2(ZSWIM6):c.2248G>A (p.Gly750Arg)
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) rs772099709
NM_020928.2(ZSWIM6):c.683A>G (p.His228Arg) rs1747601529
NM_020928.2(ZSWIM6):c.79_96dup (p.Ser27_Gly32dup) rs1554028299
NM_020937.4(FANCM):c.*100TTTA[1] rs886050504
NM_020937.4(FANCM):c.*140_*144del rs886050505
NM_020937.4(FANCM):c.*254dup rs112491585
NM_020937.4(FANCM):c.1000A>C (p.Ile334Leu)
NM_020937.4(FANCM):c.1010C>T (p.Ala337Val)
NM_020937.4(FANCM):c.1022T>G (p.Phe341Cys) rs756238597
NM_020937.4(FANCM):c.1028A>G (p.Lys343Arg)
NM_020937.4(FANCM):c.1037C>A (p.Ser346Tyr) rs2139160555
NM_020937.4(FANCM):c.1056A>G (p.Ile352Met) rs1376949981
NM_020937.4(FANCM):c.1071C>G (p.Ile357Met) rs780333012
NM_020937.4(FANCM):c.1087A>G (p.Ile363Val)
NM_020937.4(FANCM):c.108C>T (p.Gly36=) rs760179836
NM_020937.4(FANCM):c.1097G>A (p.Ser366Asn)
NM_020937.4(FANCM):c.1100T>C (p.Leu367Ser) rs769814213
NM_020937.4(FANCM):c.1111T>C (p.Tyr371His)
NM_020937.4(FANCM):c.1115A>C (p.Glu372Ala)
NM_020937.4(FANCM):c.1127A>G (p.Gln376Arg) rs1284198432
NM_020937.4(FANCM):c.1129A>G (p.Met377Val)
NM_020937.4(FANCM):c.1132G>C (p.Gly378Arg)
NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu) rs1060501894
NM_020937.4(FANCM):c.1155C>T (p.Phe385=)
NM_020937.4(FANCM):c.1163G>T (p.Gly388Val) rs2139169070
NM_020937.4(FANCM):c.1186A>C (p.Met396Leu) rs768041388
NM_020937.4(FANCM):c.1189A>G (p.Thr397Ala)
NM_020937.4(FANCM):c.1208T>C (p.Leu403Pro) rs1887059226
NM_020937.4(FANCM):c.1214G>A (p.Arg405Gln)
NM_020937.4(FANCM):c.121C>A (p.Pro41Thr)
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly) rs1887060432
NM_020937.4(FANCM):c.1224C>G (p.Asp408Glu) rs1887060648
NM_020937.4(FANCM):c.1235T>C (p.Leu412Pro)
NM_020937.4(FANCM):c.124T>A (p.Leu42Met) rs947215531
NM_020937.4(FANCM):c.1253G>A (p.Cys418Tyr) rs527417380
NM_020937.4(FANCM):c.1253G>C (p.Cys418Ser) rs527417380
NM_020937.4(FANCM):c.1260T>A (p.Phe420Leu)
NM_020937.4(FANCM):c.1260T>G (p.Phe420Leu)
NM_020937.4(FANCM):c.1265G>A (p.Arg422His) rs570510177
NM_020937.4(FANCM):c.1268C>T (p.Thr423Ile)
NM_020937.4(FANCM):c.1270C>G (p.Arg424Gly)
NM_020937.4(FANCM):c.1282G>C (p.Ala428Pro) rs1177585747
NM_020937.4(FANCM):c.1283C>T (p.Ala428Val)
NM_020937.4(FANCM):c.1285A>T (p.Asn429Tyr)
NM_020937.4(FANCM):c.1295C>T (p.Ser432Phe) rs149379175
NM_020937.4(FANCM):c.1309+3C>G
NM_020937.4(FANCM):c.1309+6del
NM_020937.4(FANCM):c.1310-13T>A rs749995672
NM_020937.4(FANCM):c.1310G>C (p.Gly437Ala) rs1290183944
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del) rs771036341
NM_020937.4(FANCM):c.1315A>G (p.Lys439Glu) rs2139173788
NM_020937.4(FANCM):c.1316A>C (p.Lys439Thr) rs1594773798
NM_020937.4(FANCM):c.1317A>C (p.Lys439Asn) rs2139173806
NM_020937.4(FANCM):c.1327T>A (p.Phe443Ile)
NM_020937.4(FANCM):c.1358T>C (p.Leu453Ser)
NM_020937.4(FANCM):c.1361AAG[1] (p.Glu455del) rs1566739002
NM_020937.4(FANCM):c.1364A>C (p.Glu455Ala) rs889654019
NM_020937.4(FANCM):c.136G>A (p.Ala46Thr)
NM_020937.4(FANCM):c.1391G>T (p.Trp464Leu) rs1566739075
NM_020937.4(FANCM):c.1395T>C (p.Asn465=) rs1594773895
NM_020937.4(FANCM):c.1395T>G (p.Asn465Lys) rs1594773895
NM_020937.4(FANCM):c.1396+5G>A rs1887116899
NM_020937.4(FANCM):c.1396+6T>A rs1887117102
NM_020937.4(FANCM):c.1396G>A (p.Ala466Thr)
NM_020937.4(FANCM):c.1421G>A (p.Arg474His)
NM_020937.4(FANCM):c.1423G>A (p.Asp475Asn) rs1060501892
NM_020937.4(FANCM):c.1423G>T (p.Asp475Tyr) rs1060501892
NM_020937.4(FANCM):c.1428G>T (p.Glu476Asp)
NM_020937.4(FANCM):c.1430C>T (p.Thr477Ile)
NM_020937.4(FANCM):c.1439T>A (p.Met480Lys) rs776804525
NM_020937.4(FANCM):c.1442TCT[1] (p.Phe482del) rs1163631547
NM_020937.4(FANCM):c.1447T>G (p.Ser483Ala)
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala) rs1887398867
NM_020937.4(FANCM):c.1457G>A (p.Arg486Gln)
NM_020937.4(FANCM):c.1463G>A (p.Ser488Asn) rs1566742540
NM_020937.4(FANCM):c.1466T>C (p.Val489Ala) rs1887401440
NM_020937.4(FANCM):c.1472A>G (p.Glu491Gly) rs2139186360
NM_020937.4(FANCM):c.14A>G (p.Gln5Arg)
NM_020937.4(FANCM):c.1501C>G (p.Pro501Ala) rs1887404285
NM_020937.4(FANCM):c.1511G>C (p.Arg504Thr) rs1023546372
NM_020937.4(FANCM):c.1518G>A (p.Met506Ile) rs1236513030
NM_020937.4(FANCM):c.1528G>T (p.Gly510Cys) rs146291619
NM_020937.4(FANCM):c.1533T>A (p.His511Gln) rs1887408716
NM_020937.4(FANCM):c.1540G>C (p.Gly514Arg)
NM_020937.4(FANCM):c.1565A>C (p.Gln522Pro) rs371569048
NM_020937.4(FANCM):c.1577T>A (p.Leu526Gln) rs766715021
NM_020937.4(FANCM):c.1577T>C (p.Leu526Pro) rs766715021
NM_020937.4(FANCM):c.157G>A (p.Asp53Asn)
NM_020937.4(FANCM):c.1582-16A>G
NM_020937.4(FANCM):c.1603G>A (p.Gly535Ser) rs757592514
NM_020937.4(FANCM):c.1607G>T (p.Gly536Val)
NM_020937.4(FANCM):c.160G>C (p.Asp54His)
NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del) rs1566716075
NM_020937.4(FANCM):c.1628C>T (p.Thr543Ile) rs1887816758
NM_020937.4(FANCM):c.1646G>A (p.Gly549Asp)
NM_020937.4(FANCM):c.164A>T (p.Asp55Val) rs1255434449
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del) rs866897480
NM_020937.4(FANCM):c.1675A>G (p.Ile559Val)
NM_020937.4(FANCM):c.1678T>C (p.Cys560Arg) rs2139204843
NM_020937.4(FANCM):c.1688C>T (p.Ser563Phe) rs1313731290
NM_020937.4(FANCM):c.1690C>A (p.Gln564Lys)
NM_020937.4(FANCM):c.1705C>A (p.Arg569Ser) rs1388696715
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys) rs1388696715
NM_020937.4(FANCM):c.1709T>C (p.Leu570Pro) rs757831397
NM_020937.4(FANCM):c.1711G>A (p.Val571Ile) rs1887826018
NM_020937.4(FANCM):c.1718G>A (p.Arg573Gln)
NM_020937.4(FANCM):c.172C>T (p.Leu58Phe) rs1555358404
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln) rs1887827994
NM_020937.4(FANCM):c.1747G>A (p.Gly583Ser)
NM_020937.4(FANCM):c.1763T>G (p.Ile588Ser)
NM_020937.4(FANCM):c.1771G>A (p.Glu591Lys)
NM_020937.4(FANCM):c.1778G>A (p.Arg593Gln) rs1887831277
NM_020937.4(FANCM):c.1783G>A (p.Glu595Lys) rs568513434
NM_020937.4(FANCM):c.1786C>A (p.Arg596Ser) rs765671208
NM_020937.4(FANCM):c.1787G>A (p.Arg596His) rs1325033142
NM_020937.4(FANCM):c.1788+6T>G rs2139205570
NM_020937.4(FANCM):c.1795A>T (p.Asn599Tyr)
NM_020937.4(FANCM):c.179C>T (p.Ala60Val) rs200717151
NM_020937.4(FANCM):c.17G>T (p.Arg6Ile) rs1464500995
NM_020937.4(FANCM):c.1808C>A (p.Ser603Tyr) rs1888020761
NM_020937.4(FANCM):c.1810A>G (p.Asn604Asp)
NM_020937.4(FANCM):c.1814A>G (p.Lys605Arg)
NM_020937.4(FANCM):c.1826A>G (p.Tyr609Cys)
NM_020937.4(FANCM):c.182C>G (p.Ala61Gly)
NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr) rs1888024744
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr) rs2139214385
NM_020937.4(FANCM):c.1862T>A (p.Phe621Tyr) rs2139214525
NM_020937.4(FANCM):c.1871G>A (p.Arg624Lys)
NM_020937.4(FANCM):c.1876C>T (p.Pro626Ser) rs1462865463
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln) rs777379515
NM_020937.4(FANCM):c.1882A>C (p.Met628Leu) rs1888029552
NM_020937.4(FANCM):c.1892A>T (p.Asp631Val)
NM_020937.4(FANCM):c.189G>T (p.Glu63Asp) rs1885484309
NM_020937.4(FANCM):c.1913A>G (p.His638Arg) rs2139214853
NM_020937.4(FANCM):c.1914C>G (p.His638Gln)
NM_020937.4(FANCM):c.1916A>G (p.Lys639Arg) rs2139214881
NM_020937.4(FANCM):c.1922T>A (p.Phe641Tyr) rs2139214923
NM_020937.4(FANCM):c.1924A>G (p.Ile642Val) rs1555363268
NM_020937.4(FANCM):c.1931A>G (p.His644Arg)
NM_020937.4(FANCM):c.1933G>A (p.Gly645Ser)
NM_020937.4(FANCM):c.1933G>C (p.Gly645Arg)
NM_020937.4(FANCM):c.1934G>A (p.Gly645Asp)
NM_020937.4(FANCM):c.1942G>A (p.Glu648Lys) rs2139215069
NM_020937.4(FANCM):c.1951A>C (p.Lys651Gln) rs774816428
NM_020937.4(FANCM):c.1954C>G (p.Pro652Ala) rs945079138
NM_020937.4(FANCM):c.1958C>G (p.Ser653Cys) rs1888036983
NM_020937.4(FANCM):c.1976A>T (p.Lys659Met) rs1888039727
NM_020937.4(FANCM):c.1981T>G (p.Ser661Ala)
NM_020937.4(FANCM):c.1982C>T (p.Ser661Phe)
NM_020937.4(FANCM):c.1984A>G (p.Ile662Val) rs1175276940
NM_020937.4(FANCM):c.1A>G (p.Met1Val) rs752141076
NM_020937.4(FANCM):c.2003-5T>G rs2139226103
NM_020937.4(FANCM):c.2012A>G (p.Gln671Arg) rs1888274919
NM_020937.4(FANCM):c.2024A>G (p.Lys675Arg) rs1888275563
NM_020937.4(FANCM):c.2029G>A (p.Asp677Asn) rs1888276122
NM_020937.4(FANCM):c.2040A>T (p.Leu680Phe)
NM_020937.4(FANCM):c.2041T>C (p.Ser681Pro)
NM_020937.4(FANCM):c.2046A>T (p.Glu682Asp)
NM_020937.4(FANCM):c.2049A>T (p.Glu683Asp) rs1888277477
NM_020937.4(FANCM):c.2053T>C (p.Phe685Leu)
NM_020937.4(FANCM):c.2053T>G (p.Phe685Val) rs772645088
NM_020937.4(FANCM):c.2058A>C (p.Lys686Asn) rs1888278178
NM_020937.4(FANCM):c.2062T>C (p.Trp688Arg) rs1888278549
NM_020937.4(FANCM):c.2063G>C (p.Trp688Ser) rs2139226471
NM_020937.4(FANCM):c.2064G>C (p.Trp688Cys)
NM_020937.4(FANCM):c.2078G>A (p.Arg693Lys)
NM_020937.4(FANCM):c.2089A>G (p.Ser697Gly)
NM_020937.4(FANCM):c.2104_2105delinsAG (p.Glu702Arg)
NM_020937.4(FANCM):c.2107A>T (p.Ile703Leu)
NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg) rs1594792069
NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala) rs1888283068
NM_020937.4(FANCM):c.2122G>A (p.Val708Ile) rs1888284033
NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu)
NM_020937.4(FANCM):c.2138T>C (p.Leu713Ser)
NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu)
NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)
NM_020937.4(FANCM):c.2160+10A>G rs767254996
NM_020937.4(FANCM):c.2161-5T>C rs2139234390
NM_020937.4(FANCM):c.2162C>G (p.Ala721Gly) rs1479368252
NM_020937.4(FANCM):c.2162C>T (p.Ala721Val)
NM_020937.4(FANCM):c.2164C>G (p.Gln722Glu)
NM_020937.4(FANCM):c.2167G>A (p.Glu723Lys)
NM_020937.4(FANCM):c.2185C>T (p.His729Tyr)
NM_020937.4(FANCM):c.2190A>T (p.Gln730His) rs117392855
NM_020937.4(FANCM):c.2191C>T (p.Leu731Phe)
NM_020937.4(FANCM):c.2203G>C (p.Glu735Gln)
NM_020937.4(FANCM):c.2205A>T (p.Glu735Asp) rs759456936
NM_020937.4(FANCM):c.2208G>C (p.Trp736Cys) rs2139234709
NM_020937.4(FANCM):c.221G>C (p.Gly74Ala) rs1348903394
NM_020937.4(FANCM):c.2225A>G (p.His742Arg)
NM_020937.4(FANCM):c.2234C>G (p.Pro745Arg) rs371756587
NM_020937.4(FANCM):c.2237C>T (p.Thr746Ile) rs773541028
NM_020937.4(FANCM):c.2253C>A (p.His751Gln)
NM_020937.4(FANCM):c.2257G>T (p.Asp753Tyr) rs1888448129
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly) rs756438082
NM_020937.4(FANCM):c.2261G>C (p.Arg754Pro)
NM_020937.4(FANCM):c.2263T>C (p.Cys755Arg)
NM_020937.4(FANCM):c.2266C>A (p.Arg756Ser)
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu) rs142763060
NM_020937.4(FANCM):c.226T>C (p.Cys76Arg)
NM_020937.4(FANCM):c.2284A>G (p.Met762Val) rs746984040
NM_020937.4(FANCM):c.2285T>C (p.Met762Thr) rs1359486439
NM_020937.4(FANCM):c.2285T>G (p.Met762Arg)
NM_020937.4(FANCM):c.2302A>G (p.Met768Val) rs1594795205
NM_020937.4(FANCM):c.2304G>A (p.Met768Ile)
NM_020937.4(FANCM):c.2305A>G (p.Arg769Gly) rs2139235357
NM_020937.4(FANCM):c.2310C>G (p.His770Gln) rs566935444
NM_020937.4(FANCM):c.2316+11_2316+13del rs2139235450
NM_020937.4(FANCM):c.2316+4G>C
NM_020937.4(FANCM):c.2316G>A (p.Glu772=)
NM_020937.4(FANCM):c.2318G>A (p.Gly773Glu)
NM_020937.4(FANCM):c.2323T>A (p.Cys775Ser)
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg) rs1181869875
NM_020937.4(FANCM):c.2333A>C (p.Glu778Ala) rs1888576524
NM_020937.4(FANCM):c.2342T>A (p.Val781Asp)
NM_020937.4(FANCM):c.2377A>G (p.Thr793Ala)
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser) rs201232194
NM_020937.4(FANCM):c.2380T>C (p.Phe794Leu)
NM_020937.4(FANCM):c.23T>A (p.Leu8His)
NM_020937.4(FANCM):c.2420A>G (p.Asp807Gly)
NM_020937.4(FANCM):c.2423C>A (p.Thr808Asn)
NM_020937.4(FANCM):c.2436C>A (p.His812Gln)
NM_020937.4(FANCM):c.2436C>G (p.His812Gln) rs1888585906
NM_020937.4(FANCM):c.2457G>T (p.Lys819Asn) rs145592211
NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser) rs2139241694
NM_020937.4(FANCM):c.2471G>T (p.Gly824Val)
NM_020937.4(FANCM):c.247T>G (p.Trp83Gly) rs1885493663
NM_020937.4(FANCM):c.2492A>C (p.Glu831Ala)
NM_020937.4(FANCM):c.2498A>C (p.Asp833Ala)
NM_020937.4(FANCM):c.2501A>C (p.Glu834Ala) rs923735366
NM_020937.4(FANCM):c.2507G>T (p.Cys836Phe)
NM_020937.4(FANCM):c.251T>G (p.Ile84Ser)
NM_020937.4(FANCM):c.2527A>T (p.Thr843Ser)
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr) rs2139242067
NM_020937.4(FANCM):c.2539C>A (p.Pro847Thr)
NM_020937.4(FANCM):c.2545A>G (p.Lys849Glu) rs1007624205
NM_020937.4(FANCM):c.2548A>G (p.Ile850Val) rs2139242181
NM_020937.4(FANCM):c.254A>G (p.Tyr85Cys) rs1555358445
NM_020937.4(FANCM):c.2563A>G (p.Lys855Glu)
NM_020937.4(FANCM):c.2567A>C (p.Lys856Thr) rs565751937
NM_020937.4(FANCM):c.256C>T (p.Pro86Ser) rs2139101859
NM_020937.4(FANCM):c.2578_2580del (p.Glu860del) rs1888597959
NM_020937.4(FANCM):c.2582_2584del (p.Ile861del) rs759751361
NM_020937.4(FANCM):c.2584A>G (p.Lys862Glu) rs1888599671
NM_020937.4(FANCM):c.2599A>G (p.Lys867Glu) rs1888601587
NM_020937.4(FANCM):c.2603A>T (p.Lys868Ile)
NM_020937.4(FANCM):c.260C>T (p.Thr87Ile)
NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser) rs538729337
NM_020937.4(FANCM):c.2617G>T (p.Gly873Cys) rs538729337
NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr) rs1594797856
NM_020937.4(FANCM):c.263A>G (p.Asn88Ser) rs1566716433
NM_020937.4(FANCM):c.2642A>G (p.Asp881Gly)
NM_020937.4(FANCM):c.2661A>C (p.Glu887Asp) rs1888608441
NM_020937.4(FANCM):c.2662A>C (p.Asn888His) rs755964806
NM_020937.4(FANCM):c.2672A>G (p.Gln891Arg) rs753820999
NM_020937.4(FANCM):c.2673A>G (p.Gln891=) rs1314872979
NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly)
NM_020937.4(FANCM):c.2678_2680dup (p.Asp893_Leu894insHis)
NM_020937.4(FANCM):c.2686A>G (p.Asn896Asp)
NM_020937.4(FANCM):c.2687A>G (p.Asn896Ser) rs2139243150
NM_020937.4(FANCM):c.2693A>G (p.Lys898Arg)
NM_020937.4(FANCM):c.2698A>C (p.Thr900Pro)
NM_020937.4(FANCM):c.2699C>T (p.Thr900Ile) rs1555364640
NM_020937.4(FANCM):c.2705A>C (p.Asp902Ala)
NM_020937.4(FANCM):c.2723C>G (p.Ala908Gly) rs201464936
NM_020937.4(FANCM):c.2723C>T (p.Ala908Val) rs201464936
NM_020937.4(FANCM):c.2729G>A (p.Cys910Tyr) rs2139243498
NM_020937.4(FANCM):c.272T>C (p.Val91Ala) rs1885496103
NM_020937.4(FANCM):c.2741A>C (p.Glu914Ala) rs774814027
NM_020937.4(FANCM):c.2754A>C (p.Lys918Asn)
NM_020937.4(FANCM):c.2764G>A (p.Val922Met) rs1888619129
NM_020937.4(FANCM):c.2784G>T (p.Gln928His)
NM_020937.4(FANCM):c.2792A>G (p.Asn931Ser)
NM_020937.4(FANCM):c.2801C>G (p.Thr934Ser)
NM_020937.4(FANCM):c.2801C>T (p.Thr934Ile)
NM_020937.4(FANCM):c.2804G>A (p.Ser935Asn) rs1888621670
NM_020937.4(FANCM):c.2804G>T (p.Ser935Ile) rs1888621670
NM_020937.4(FANCM):c.2812G>T (p.Ala938Ser)
NM_020937.4(FANCM):c.2813C>G (p.Ala938Gly) rs2139244001
NM_020937.4(FANCM):c.2834G>C (p.Gly945Ala) rs1193165722
NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys)
NM_020937.4(FANCM):c.2842A>G (p.Ser948Gly)
NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys) rs1594798282
NM_020937.4(FANCM):c.2869T>C (p.Ser957Pro) rs1888628299
NM_020937.4(FANCM):c.2881_2901del (p.Leu961_Leu967del) rs1888630158
NM_020937.4(FANCM):c.2888T>C (p.Phe963Ser)
NM_020937.4(FANCM):c.2889C>G (p.Phe963Leu)
NM_020937.4(FANCM):c.2892A>G (p.Glu964=) rs1300082794
NM_020937.4(FANCM):c.2896G>C (p.Glu966Gln) rs762791482
NM_020937.4(FANCM):c.2908G>A (p.Val970Ile)
NM_020937.4(FANCM):c.2908G>T (p.Val970Phe) rs1245895480
NM_020937.4(FANCM):c.2921A>G (p.Asp974Gly)
NM_020937.4(FANCM):c.2922C>A (p.Asp974Glu) rs1888633712
NM_020937.4(FANCM):c.2952A>C (p.Lys984Asn)
NM_020937.4(FANCM):c.2956G>A (p.Val986Ile) rs112345761
NM_020937.4(FANCM):c.295T>C (p.Ser99Pro)
NM_020937.4(FANCM):c.2967T>G (p.Asn989Lys)
NM_020937.4(FANCM):c.2971_2972delinsAG (p.Glu991Arg) rs2139245094
NM_020937.4(FANCM):c.2979T>G (p.Phe993Leu)
NM_020937.4(FANCM):c.2990C>A (p.Ser997Tyr)
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly) rs1594798521
NM_020937.4(FANCM):c.301G>T (p.Ala101Ser)
NM_020937.4(FANCM):c.3037A>G (p.Lys1013Glu) rs1888643453
NM_020937.4(FANCM):c.3041G>T (p.Gly1014Val)
NM_020937.4(FANCM):c.3054G>T (p.Glu1018Asp)
NM_020937.4(FANCM):c.3058T>A (p.Leu1020Met)
NM_020937.4(FANCM):c.3061C>T (p.Leu1021Phe)
NM_020937.4(FANCM):c.3064T>C (p.Phe1022Leu)
NM_020937.4(FANCM):c.3065T>C (p.Phe1022Ser) rs1263906591
NM_020937.4(FANCM):c.307C>G (p.Leu103Val) rs768136056
NM_020937.4(FANCM):c.3089G>A (p.Arg1030Gln) rs1594798699
NM_020937.4(FANCM):c.3092G>T (p.Ser1031Ile) rs1176625946
NM_020937.4(FANCM):c.3095A>G (p.Asp1032Gly) rs776989238
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val) rs776989238
NM_020937.4(FANCM):c.3102C>G (p.Cys1034Trp)
NM_020937.4(FANCM):c.3103A>C (p.Thr1035Pro) rs1594798747
NM_020937.4(FANCM):c.3103A>T (p.Thr1035Ser)
NM_020937.4(FANCM):c.3111G>C (p.Leu1037Phe) rs2139246120
NM_020937.4(FANCM):c.3113T>C (p.Leu1038Pro)
NM_020937.4(FANCM):c.3134C>T (p.Ser1045Phe)
NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val)
NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser) rs1888655331
NM_020937.4(FANCM):c.3166T>G (p.Cys1056Gly)
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu) rs1171533572
NM_020937.4(FANCM):c.3191G>A (p.Ser1064Asn)
NM_020937.4(FANCM):c.3205A>G (p.Ile1069Val) rs2139246678
NM_020937.4(FANCM):c.3206T>C (p.Ile1069Thr)
NM_020937.4(FANCM):c.3218A>G (p.Asn1073Ser) rs1888660531
NM_020937.4(FANCM):c.3221T>C (p.Ile1074Thr)
NM_020937.4(FANCM):c.3224C>A (p.Ser1075Tyr) rs1888661185
NM_020937.4(FANCM):c.3224C>T (p.Ser1075Phe)
NM_020937.4(FANCM):c.3227A>G (p.Asp1076Gly)
NM_020937.4(FANCM):c.3238C>G (p.Leu1080Val) rs1888662319
NM_020937.4(FANCM):c.3238C>T (p.Leu1080Phe)
NM_020937.4(FANCM):c.3240CTGTGA[1] (p.1081CD[1]) rs1888662522
NM_020937.4(FANCM):c.3242G>A (p.Cys1081Tyr) rs1273042421
NM_020937.4(FANCM):c.3244G>A (p.Asp1082Asn) rs2139246974
NM_020937.4(FANCM):c.3247T>C (p.Cys1083Arg) rs1594798970
NM_020937.4(FANCM):c.324G>A (p.Leu108=) rs1885502120
NM_020937.4(FANCM):c.3254T>C (p.Val1085Ala)
NM_020937.4(FANCM):c.3258T>A (p.His1086Gln) rs2139247109
NM_020937.4(FANCM):c.3261A>T (p.Lys1087Asn) rs1888664392
NM_020937.4(FANCM):c.3263A>G (p.His1088Arg)
NM_020937.4(FANCM):c.3268C>G (p.Gln1090Glu) rs752061240
NM_020937.4(FANCM):c.326T>C (p.Val109Ala) rs1594750831
NM_020937.4(FANCM):c.3292A>G (p.Asn1098Asp) rs1888666556
NM_020937.4(FANCM):c.3303A>C (p.Gln1101His) rs1403821078
NM_020937.4(FANCM):c.3313A>G (p.Ser1105Gly) rs777264888
NM_020937.4(FANCM):c.3319G>A (p.Ala1107Thr) rs996666429
NM_020937.4(FANCM):c.3323A>G (p.Gln1108Arg) rs376223629
NM_020937.4(FANCM):c.3327T>A (p.Asn1109Lys)
NM_020937.4(FANCM):c.3331G>A (p.Val1111Ile)
NM_020937.4(FANCM):c.3344A>G (p.Asn1115Ser)
NM_020937.4(FANCM):c.3366C>A (p.Asp1122Glu) rs768546653
NM_020937.4(FANCM):c.3367C>T (p.Leu1123Phe) rs1888672087
NM_020937.4(FANCM):c.3368T>C (p.Leu1123Pro)
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu) rs1594799126
NM_020937.4(FANCM):c.3382A>T (p.Thr1128Ser)
NM_020937.4(FANCM):c.3394G>A (p.Glu1132Lys)
NM_020937.4(FANCM):c.3402G>C (p.Leu1134Phe) rs1888675805
NM_020937.4(FANCM):c.3410T>G (p.Phe1137Cys) rs774431370
NM_020937.4(FANCM):c.3436G>C (p.Asp1146His)
NM_020937.4(FANCM):c.3440T>G (p.Val1147Gly)
NM_020937.4(FANCM):c.3442A>G (p.Ser1148Gly) rs1888681289
NM_020937.4(FANCM):c.3455T>C (p.Leu1152Ser) rs948354347
NM_020937.4(FANCM):c.3460A>G (p.Ser1154Gly)
NM_020937.4(FANCM):c.3461G>T (p.Ser1154Ile)
NM_020937.4(FANCM):c.3467G>A (p.Ser1156Asn) rs2139248693
NM_020937.4(FANCM):c.3478C>G (p.Pro1160Ala)
NM_020937.4(FANCM):c.3489C>A (p.Asp1163Glu)
NM_020937.4(FANCM):c.3489C>G (p.Asp1163Glu)
NM_020937.4(FANCM):c.3494C>G (p.Thr1165Ser) rs200110609
NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla)
NM_020937.4(FANCM):c.3500T>C (p.Ile1167Thr) rs1888687169
NM_020937.4(FANCM):c.3504T>G (p.Ser1168Arg) rs2139249069
NM_020937.4(FANCM):c.3514C>G (p.Leu1172Val) rs774361836
NM_020937.4(FANCM):c.3517G>A (p.Val1173Ile) rs772176794
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3539A>G (p.Asp1180Gly) rs2139249394
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp) rs1375995948
NM_020937.4(FANCM):c.3568C>T (p.Leu1190Phe) rs367682848
NM_020937.4(FANCM):c.3578A>C (p.Gln1193Pro) rs1888695039
NM_020937.4(FANCM):c.3584C>G (p.Thr1195Ser)
NM_020937.4(FANCM):c.3586C>T (p.Arg1196Cys) rs1360072407
NM_020937.4(FANCM):c.3613G>A (p.Asp1205Asn) rs936653683
NM_020937.4(FANCM):c.3625G>A (p.Val1209Ile)
NM_020937.4(FANCM):c.3626T>C (p.Val1209Ala)
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu) rs372276411
NM_020937.4(FANCM):c.362C>T (p.Ala121Val) rs899740775
NM_020937.4(FANCM):c.3631G>A (p.Glu1211Lys)
NM_020937.4(FANCM):c.3640G>A (p.Val1214Met) rs1888701877
NM_020937.4(FANCM):c.3650A>C (p.His1217Pro) rs762245674
NM_020937.4(FANCM):c.3653A>G (p.Glu1218Gly) rs2139250247
NM_020937.4(FANCM):c.3654G>C (p.Glu1218Asp)
NM_020937.4(FANCM):c.3659T>G (p.Ile1220Ser) rs2139250318
NM_020937.4(FANCM):c.3662T>C (p.Phe1221Ser) rs1350824740
NM_020937.4(FANCM):c.3664G>C (p.Asp1222His) rs145411480
NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser) rs1566765698
NM_020937.4(FANCM):c.3692C>A (p.Thr1231Asn) rs1555364981
NM_020937.4(FANCM):c.3697G>C (p.Asp1233His) rs1888706777
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys) rs2139099472
NM_020937.4(FANCM):c.3703G>C (p.Gly1235Arg) rs1888706953
NM_020937.4(FANCM):c.3706T>G (p.Phe1236Val)
NM_020937.4(FANCM):c.3725A>G (p.Asp1242Gly) rs994282538
NM_020937.4(FANCM):c.3729T>G (p.Asp1243Glu)
NM_020937.4(FANCM):c.3736T>G (p.Leu1246Val) rs1888710046
NM_020937.4(FANCM):c.3743A>G (p.His1248Arg) rs1181209142
NM_020937.4(FANCM):c.3746C>A (p.Thr1249Lys) rs768667842
NM_020937.4(FANCM):c.374T>C (p.Met125Thr) rs780601895
NM_020937.4(FANCM):c.3752A>G (p.Asp1251Gly) rs1425871684
NM_020937.4(FANCM):c.375G>A (p.Met125Ile)
NM_020937.4(FANCM):c.3760A>G (p.Arg1254Gly)
NM_020937.4(FANCM):c.3763C>T (p.Pro1255Ser) rs770651053
NM_020937.4(FANCM):c.3767T>G (p.Leu1256Arg)
NM_020937.4(FANCM):c.3769GAT[1] (p.Asp1258del) rs2139251128
NM_020937.4(FANCM):c.3785G>A (p.Arg1262Lys) rs2139251254
NM_020937.4(FANCM):c.3788A>G (p.Tyr1263Cys)
NM_020937.4(FANCM):c.3793G>C (p.Glu1265Gln) rs1566766047
NM_020937.4(FANCM):c.3799A>C (p.Lys1267Gln) rs1888716067
NM_020937.4(FANCM):c.3819T>A (p.Asn1273Lys) rs2139251440
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.3831T>A (p.Asn1277Lys) rs1888717904
NM_020937.4(FANCM):c.3856A>G (p.Ser1286Gly)
NM_020937.4(FANCM):c.3857G>T (p.Ser1286Ile)
NM_020937.4(FANCM):c.385T>C (p.Tyr129His) rs1360033335
NM_020937.4(FANCM):c.3871A>G (p.Ser1291Gly)
NM_020937.4(FANCM):c.3875G>A (p.Gly1292Glu)
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del) rs1312125043
NM_020937.4(FANCM):c.3883A>G (p.Ile1295Val) rs2139251959
NM_020937.4(FANCM):c.388C>G (p.Arg130Gly) rs758891745
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys) rs758891745
NM_020937.4(FANCM):c.3896A>T (p.Asn1299Ile) rs761637559
NM_020937.4(FANCM):c.389G>A (p.Arg130His) rs751804045
NM_020937.4(FANCM):c.389G>T (p.Arg130Leu)
NM_020937.4(FANCM):c.3900A>C (p.Glu1300Asp)
NM_020937.4(FANCM):c.3902A>T (p.Asp1301Val) rs1183935509
NM_020937.4(FANCM):c.3907C>A (p.Gln1303Lys) rs369549739
NM_020937.4(FANCM):c.3916A>G (p.Asn1306Asp)
NM_020937.4(FANCM):c.3919T>C (p.Tyr1307His) rs1888726971
NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser) rs143997277
NM_020937.4(FANCM):c.3941C>T (p.Ala1314Val)
NM_020937.4(FANCM):c.3960G>C (p.Leu1320Phe)
NM_020937.4(FANCM):c.3962T>C (p.Leu1321Ser)
NM_020937.4(FANCM):c.3964T>G (p.Ser1322Ala)
NM_020937.4(FANCM):c.3965C>T (p.Ser1322Phe) rs1594800025
NM_020937.4(FANCM):c.3968C>A (p.Pro1323His)
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu) rs1369746830
NM_020937.4(FANCM):c.3977C>T (p.Ser1326Phe)
NM_020937.4(FANCM):c.3989T>C (p.Leu1330Ser)
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu) rs139382920
NM_020937.4(FANCM):c.3995T>C (p.Val1332Ala)
NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)
NM_020937.4(FANCM):c.4027A>G (p.Lys1343Glu) rs2139253150
NM_020937.4(FANCM):c.4030T>C (p.Ser1344Pro) rs1888737260
NM_020937.4(FANCM):c.403G>A (p.Gly135Arg) rs1594750987
NM_020937.4(FANCM):c.4045T>A (p.Ser1349Thr)
NM_020937.4(FANCM):c.4054A>G (p.Lys1352Glu) rs1888737946
NM_020937.4(FANCM):c.4057A>T (p.Ile1353Leu)
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys) rs1302733474
NM_020937.4(FANCM):c.4069A>G (p.Ile1357Val) rs1555365093
NM_020937.4(FANCM):c.4073T>C (p.Leu1358Pro)
NM_020937.4(FANCM):c.4084G>T (p.Asp1362Tyr)
NM_020937.4(FANCM):c.4088C>G (p.Ser1363Cys)
NM_020937.4(FANCM):c.4090A>G (p.Ser1364Gly)
NM_020937.4(FANCM):c.4096G>A (p.Glu1366Lys) rs2139253441
NM_020937.4(FANCM):c.4103T>C (p.Val1368Ala) rs958088496
NM_020937.4(FANCM):c.4115G>T (p.Arg1372Ile) rs1888742620
NM_020937.4(FANCM):c.4121A>G (p.Lys1374Arg) rs1888743641
NM_020937.4(FANCM):c.4132A>C (p.Asn1378His) rs1594800247
NM_020937.4(FANCM):c.4143T>G (p.Phe1381Leu) rs2139253752
NM_020937.4(FANCM):c.4145A>G (p.Asp1382Gly) rs2139253766
NM_020937.4(FANCM):c.4145A>T (p.Asp1382Val)
NM_020937.4(FANCM):c.4148A>G (p.Tyr1383Cys)
NM_020937.4(FANCM):c.4162C>G (p.Leu1388Val) rs769653358
NM_020937.4(FANCM):c.4163T>C (p.Leu1388Pro)
NM_020937.4(FANCM):c.4174A>G (p.Lys1392Glu)
NM_020937.4(FANCM):c.4184G>T (p.Gly1395Val) rs1203349245
NM_020937.4(FANCM):c.4187_4189dup (p.Pro1396_Met1397insThr) rs1888747763
NM_020937.4(FANCM):c.419T>C (p.Met140Thr) rs1885514534
NM_020937.4(FANCM):c.420G>A (p.Met140Ile) rs1329485751
NM_020937.4(FANCM):c.4222+4A>C
NM_020937.4(FANCM):c.4223A>G (p.Asp1408Gly)
NM_020937.4(FANCM):c.4223A>T (p.Asp1408Val)
NM_020937.4(FANCM):c.4225G>A (p.Gly1409Arg)
NM_020937.4(FANCM):c.4231TTA[1] (p.Leu1412del) rs1889061790
NM_020937.4(FANCM):c.4246G>A (p.Glu1416Lys)
NM_020937.4(FANCM):c.424C>A (p.Pro142Thr)
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys) rs886050502
NM_020937.4(FANCM):c.4274G>A (p.Arg1425Lys) rs2139270169
NM_020937.4(FANCM):c.4277A>G (p.Lys1426Arg)
NM_020937.4(FANCM):c.427A>G (p.Thr143Ala)
NM_020937.4(FANCM):c.4318G>A (p.Asp1440Asn)
NM_020937.4(FANCM):c.4319A>G (p.Asp1440Gly) rs2139270979
NM_020937.4(FANCM):c.431A>C (p.Lys144Thr)
NM_020937.4(FANCM):c.4320T>G (p.Asp1440Glu) rs2139270994
NM_020937.4(FANCM):c.4342T>A (p.Ser1448Thr)
NM_020937.4(FANCM):c.4346C>T (p.Pro1449Leu)
NM_020937.4(FANCM):c.4348C>T (p.Leu1450Phe)
NM_020937.4(FANCM):c.4352A>T (p.His1451Leu) rs572890751
NM_020937.4(FANCM):c.4353T>A (p.His1451Gln)
NM_020937.4(FANCM):c.4360A>G (p.Lys1454Glu)
NM_020937.4(FANCM):c.4367G>T (p.Arg1456Leu) rs749332566
NM_020937.4(FANCM):c.4383C>G (p.Asn1461Lys)
NM_020937.4(FANCM):c.4386+14A>G
NM_020937.4(FANCM):c.4386+16G>C
NM_020937.4(FANCM):c.4386+2dup rs1889085424
NM_020937.4(FANCM):c.4387-5_4387-3del rs1566775466
NM_020937.4(FANCM):c.4387-6T>C rs1889209053
NM_020937.4(FANCM):c.4391A>G (p.Glu1464Gly) rs1889210004
NM_020937.4(FANCM):c.4405G>T (p.Asp1469Tyr) rs1889211661
NM_020937.4(FANCM):c.443C>T (p.Thr148Ile)
NM_020937.4(FANCM):c.4447G>C (p.Asp1483His) rs1889215664
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg) rs2139278064
NM_020937.4(FANCM):c.4469A>G (p.Asn1490Ser)
NM_020937.4(FANCM):c.447_448delinsAG (p.Gln150Glu) rs1885518528
NM_020937.4(FANCM):c.4480G>T (p.Gly1494Cys) rs772085199
NM_020937.4(FANCM):c.4481G>A (p.Gly1494Asp) rs1889220204
NM_020937.4(FANCM):c.4486A>G (p.Lys1496Glu)
NM_020937.4(FANCM):c.4489G>A (p.Val1497Ile) rs369576101
NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg)
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys) rs755947203
NM_020937.4(FANCM):c.4515+4A>G
NM_020937.4(FANCM):c.4515+6C>A
NM_020937.4(FANCM):c.4517A>T (p.His1506Leu) rs775457463
NM_020937.4(FANCM):c.4536A>C (p.Leu1512Phe)
NM_020937.4(FANCM):c.4545A>T (p.Glu1515Asp) rs1889323052
NM_020937.4(FANCM):c.454G>A (p.Glu152Lys) rs1885519043
NM_020937.4(FANCM):c.4552C>G (p.Leu1518Val)
NM_020937.4(FANCM):c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
NM_020937.4(FANCM):c.4562A>T (p.Glu1521Val)
NM_020937.4(FANCM):c.4566T>G (p.Asp1522Glu) rs375131983
NM_020937.4(FANCM):c.4568C>A (p.Ala1523Glu)
NM_020937.4(FANCM):c.4568C>G (p.Ala1523Gly) rs960743288
NM_020937.4(FANCM):c.4573T>C (p.Tyr1525His)
NM_020937.4(FANCM):c.4576G>A (p.Val1526Ile) rs982820875
NM_020937.4(FANCM):c.457G>C (p.Ala153Pro)
NM_020937.4(FANCM):c.4582T>G (p.Ser1528Ala) rs1889328561
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn) rs1245071059
NM_020937.4(FANCM):c.4591A>G (p.Asn1531Asp)
NM_020937.4(FANCM):c.4593TGA[1] (p.Asp1532del)
NM_020937.4(FANCM):c.4594G>A (p.Asp1532Asn)
NM_020937.4(FANCM):c.4603G>C (p.Glu1535Gln)
NM_020937.4(FANCM):c.4619C>T (p.Ser1540Phe) rs1889332251
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys) rs932577451
NM_020937.4(FANCM):c.4643A>G (p.Asp1548Gly)
NM_020937.4(FANCM):c.4645G>A (p.Glu1549Lys)
NM_020937.4(FANCM):c.4648A>T (p.Thr1550Ser)
NM_020937.4(FANCM):c.4651C>G (p.Gln1551Glu) rs1889335215
NM_020937.4(FANCM):c.4654C>A (p.Leu1552Ile)
NM_020937.4(FANCM):c.4657T>G (p.Ser1553Ala) rs2139284324
NM_020937.4(FANCM):c.4661A>G (p.Gln1554Arg)
NM_020937.4(FANCM):c.4664C>G (p.Ala1555Gly) rs2139284354
NM_020937.4(FANCM):c.4666A>G (p.Ile1556Val)
NM_020937.4(FANCM):c.4668A>G (p.Ile1556Met)
NM_020937.4(FANCM):c.4672+6T>A
NM_020937.4(FANCM):c.4681A>G (p.Met1561Val) rs2139291810
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr) rs1889499436
NM_020937.4(FANCM):c.46A>G (p.Ile16Val)
NM_020937.4(FANCM):c.4708C>A (p.Arg1570Ser) rs139376041
NM_020937.4(FANCM):c.4709G>T (p.Arg1570Leu)
NM_020937.4(FANCM):c.4721T>G (p.Met1574Arg)
NM_020937.4(FANCM):c.4725C>G (p.Asn1575Lys)
NM_020937.4(FANCM):c.4739T>G (p.Met1580Arg) rs1889503433
NM_020937.4(FANCM):c.4741A>G (p.Ile1581Val) rs1649188416
NM_020937.4(FANCM):c.474_479del (p.Met158_Gly159del)
NM_020937.4(FANCM):c.4763T>C (p.Ile1588Thr) rs2139292209
NM_020937.4(FANCM):c.476G>C (p.Gly159Ala)
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile) rs773152045
NM_020937.4(FANCM):c.4779+5_4779+9del rs1889507289
NM_020937.4(FANCM):c.4779+6A>T
NM_020937.4(FANCM):c.4780-20T>G
NM_020937.4(FANCM):c.4780A>G (p.Ile1594Val)
NM_020937.4(FANCM):c.4805T>C (p.Leu1602Ser)
NM_020937.4(FANCM):c.4810G>T (p.Asp1604Tyr)
NM_020937.4(FANCM):c.4817T>C (p.Phe1606Ser)
NM_020937.4(FANCM):c.4821T>G (p.Cys1607Trp)
NM_020937.4(FANCM):c.4825G>A (p.Asp1609Asn)
NM_020937.4(FANCM):c.4850A>G (p.Gln1617Arg)
NM_020937.4(FANCM):c.4857T>A (p.Ser1619Arg) rs1594814748
NM_020937.4(FANCM):c.4859A>G (p.Glu1620Gly) rs2139295530
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys) rs1594814788
NM_020937.4(FANCM):c.4901_4902delinsTT (p.Cys1634Phe)
NM_020937.4(FANCM):c.4934G>C (p.Arg1645Pro)
NM_020937.4(FANCM):c.4943T>G (p.Met1648Arg) rs766886760
NM_020937.4(FANCM):c.4951G>C (p.Glu1651Gln) rs752279370
NM_020937.4(FANCM):c.4954A>G (p.Met1652Val)
NM_020937.4(FANCM):c.4972G>C (p.Ala1658Pro) rs1889586772
NM_020937.4(FANCM):c.4979C>T (p.Ser1660Leu) rs547959452
NM_020937.4(FANCM):c.4981A>G (p.Lys1661Glu) rs1324848045
NM_020937.4(FANCM):c.4999ATT[1] (p.Ile1668del)
NM_020937.4(FANCM):c.5008C>T (p.Pro1670Ser) rs1594814972
NM_020937.4(FANCM):c.5023GAG[2] (p.Glu1677del) rs750497256
NM_020937.4(FANCM):c.5034C>A (p.Asn1678Lys)
NM_020937.4(FANCM):c.5041A>G (p.Asn1681Asp) rs2139296522
NM_020937.4(FANCM):c.5044G>C (p.Asp1682His)
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala) rs2139296568
NM_020937.4(FANCM):c.5045A>G (p.Asp1682Gly)
NM_020937.4(FANCM):c.5046T>G (p.Asp1682Glu) rs1302536129
NM_020937.4(FANCM):c.5059A>G (p.Asn1687Asp)
NM_020937.4(FANCM):c.505A>G (p.Thr169Ala)
NM_020937.4(FANCM):c.5062A>G (p.Ile1688Val)
NM_020937.4(FANCM):c.5068G>A (p.Val1690Ile) rs752352756
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu) rs752352756
NM_020937.4(FANCM):c.5072A>G (p.Asn1691Ser) rs1594815120
NM_020937.4(FANCM):c.5078G>A (p.Ser1693Asn) rs528554660
NM_020937.4(FANCM):c.508+3A>G rs775341176
NM_020937.4(FANCM):c.508+5C>G rs886050497
NM_020937.4(FANCM):c.5088GAA[1] (p.Lys1697del) rs2139296928
NM_020937.4(FANCM):c.509-16T>C
NM_020937.4(FANCM):c.5095A>G (p.Lys1699Glu) rs2139296999
NM_020937.4(FANCM):c.5096A>G (p.Lys1699Arg)
NM_020937.4(FANCM):c.5104G>C (p.Asp1702His)
NM_020937.4(FANCM):c.5104G>T (p.Asp1702Tyr) rs1033212754
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp) rs367653310
NM_020937.4(FANCM):c.5107C>T (p.His1703Tyr)
NM_020937.4(FANCM):c.511T>C (p.Ser171Pro) rs1885568109
NM_020937.4(FANCM):c.5120C>T (p.Ser1707Leu)
NM_020937.4(FANCM):c.5122G>T (p.Val1708Leu) rs1566783242
NM_020937.4(FANCM):c.5141C>A (p.Ala1714Glu) rs139383231
NM_020937.4(FANCM):c.5147C>T (p.Ser1716Phe)
NM_020937.4(FANCM):c.5149A>C (p.Lys1717Gln)
NM_020937.4(FANCM):c.5156G>T (p.Arg1719Leu) rs760421586
NM_020937.4(FANCM):c.5177C>G (p.Pro1726Arg)
NM_020937.4(FANCM):c.5185A>G (p.Lys1729Glu)
NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu) rs374587255
NM_020937.4(FANCM):c.5200A>G (p.Thr1734Ala) rs756631911
NM_020937.4(FANCM):c.5233G>A (p.Val1745Ile)
NM_020937.4(FANCM):c.5237C>T (p.Ser1746Leu) rs1889613187
NM_020937.4(FANCM):c.5239G>C (p.Asp1747His)
NM_020937.4(FANCM):c.5249C>T (p.Pro1750Leu)
NM_020937.4(FANCM):c.5260A>T (p.Asn1754Tyr)
NM_020937.4(FANCM):c.526A>C (p.Thr176Pro)
NM_020937.4(FANCM):c.5270A>G (p.Gln1757Arg)
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala) rs540327722
NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu) rs1395216158
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg) rs747356020
NM_020937.4(FANCM):c.5290A>G (p.Thr1764Ala) rs776417170
NM_020937.4(FANCM):c.5291C>T (p.Thr1764Ile) rs1889619711
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) rs1386457912
NM_020937.4(FANCM):c.5297T>C (p.Val1766Ala) rs368109537
NM_020937.4(FANCM):c.5305C>G (p.Gln1769Glu) rs1277570500
NM_020937.4(FANCM):c.5313C>A (p.Asp1771Glu)
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr) rs1594815624
NM_020937.4(FANCM):c.5327C>T (p.Pro1776Leu)
NM_020937.4(FANCM):c.5333C>T (p.Pro1778Leu) rs1212903067
NM_020937.4(FANCM):c.5340+4T>C
NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr) rs1889624694
NM_020937.4(FANCM):c.5341-3C>T rs1890043451
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn) rs997324391
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_020937.4(FANCM):c.5372C>T (p.Ser1791Leu)
NM_020937.4(FANCM):c.5375G>A (p.Gly1792Glu)
NM_020937.4(FANCM):c.5387C>G (p.Ser1796Cys)
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe) rs1275681669
NM_020937.4(FANCM):c.5396G>T (p.Arg1799Ile) rs996654030
NM_020937.4(FANCM):c.539T>C (p.Ile180Thr) rs2139106376
NM_020937.4(FANCM):c.541T>C (p.Trp181Arg) rs1885571765
NM_020937.4(FANCM):c.5432T>A (p.Leu1811His)
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr) rs3736772
NM_020937.4(FANCM):c.543G>T (p.Trp181Cys) rs749507878
NM_020937.4(FANCM):c.5443G>A (p.Gly1815Arg) rs766516817
NM_020937.4(FANCM):c.5444G>A (p.Gly1815Glu)
NM_020937.4(FANCM):c.5447A>G (p.Lys1816Arg) rs2139319399
NM_020937.4(FANCM):c.5449G>A (p.Gly1817Arg)
NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala)
NM_020937.4(FANCM):c.5453C>T (p.Thr1818Ile)
NM_020937.4(FANCM):c.5456G>A (p.Cys1819Tyr)
NM_020937.4(FANCM):c.546C>T (p.Cys182=)
NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp) rs1890053191
NM_020937.4(FANCM):c.548G>A (p.Ser183Asn) rs961990525
NM_020937.4(FANCM):c.5504C>T (p.Ser1835Phe)
NM_020937.4(FANCM):c.5513G>A (p.Arg1838Lys)
NM_020937.4(FANCM):c.5532A>T (p.Gln1844His)
NM_020937.4(FANCM):c.5539G>T (p.Val1847Phe)
NM_020937.4(FANCM):c.5568C>G (p.Ile1856Met)
NM_020937.4(FANCM):c.5578C>G (p.Arg1860Gly) rs139996409
NM_020937.4(FANCM):c.5584G>A (p.Val1862Met) rs1280753248
NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser)
NM_020937.4(FANCM):c.5600C>T (p.Ser1867Phe)
NM_020937.4(FANCM):c.5605T>C (p.Ser1869Pro) rs1890063101
NM_020937.4(FANCM):c.5608G>A (p.Glu1870Lys)
NM_020937.4(FANCM):c.5612T>C (p.Met1871Thr)
NM_020937.4(FANCM):c.5613G>A (p.Met1871Ile) rs1890063687
NM_020937.4(FANCM):c.5624T>C (p.Val1875Ala)
NM_020937.4(FANCM):c.5658C>G (p.His1886Gln) rs1364697360
NM_020937.4(FANCM):c.5667T>G (p.Ser1889Arg)
NM_020937.4(FANCM):c.5669T>C (p.Met1890Thr) rs1392653043
NM_020937.4(FANCM):c.5672T>C (p.Phe1891Ser) rs1890067683
NM_020937.4(FANCM):c.5679A>T (p.Arg1893Ser) rs750143582
NM_020937.4(FANCM):c.5680A>G (p.Ile1894Val)
NM_020937.4(FANCM):c.5682A>G (p.Ile1894Met)
NM_020937.4(FANCM):c.5692G>A (p.Val1898Met)
NM_020937.4(FANCM):c.5692G>T (p.Val1898Leu)
NM_020937.4(FANCM):c.569C>G (p.Thr190Arg)
NM_020937.4(FANCM):c.5713A>G (p.Thr1905Ala)
NM_020937.4(FANCM):c.5716+5G>A
NM_020937.4(FANCM):c.5716+6T>C
NM_020937.4(FANCM):c.5729G>C (p.Arg1910Thr) rs1193767487
NM_020937.4(FANCM):c.572C>T (p.Pro191Leu) rs1555358635
NM_020937.4(FANCM):c.5732T>A (p.Met1911Lys) rs1346827067
NM_020937.4(FANCM):c.5741G>A (p.Arg1914Lys) rs1890202191
NM_020937.4(FANCM):c.5744C>A (p.Thr1915Lys) rs2139328014
NM_020937.4(FANCM):c.5747A>G (p.Lys1916Arg) rs908307807
NM_020937.4(FANCM):c.5750G>A (p.Ser1917Asn)
NM_020937.4(FANCM):c.5771C>T (p.Thr1924Ile)
NM_020937.4(FANCM):c.577G>T (p.Val193Phe)
NM_020937.4(FANCM):c.5783C>A (p.Ala1928Asp)
NM_020937.4(FANCM):c.5805T>A (p.Ser1935Arg) rs1890206867
NM_020937.4(FANCM):c.5806T>A (p.Ser1936Thr)
NM_020937.4(FANCM):c.5816A>G (p.Glu1939Gly) rs1890207596
NM_020937.4(FANCM):c.5821A>C (p.Thr1941Pro) rs2139328515
NM_020937.4(FANCM):c.5824G>T (p.Ala1942Ser) rs759078220
NM_020937.4(FANCM):c.5828A>G (p.Asp1943Gly)
NM_020937.4(FANCM):c.582G>A (p.Met194Ile)
NM_020937.4(FANCM):c.5839G>C (p.Glu1947Gln) rs1890209507
NM_020937.4(FANCM):c.583G>A (p.Val195Ile)
NM_020937.4(FANCM):c.5843T>A (p.Leu1948Gln)
NM_020937.4(FANCM):c.5864A>T (p.Lys1955Met)
NM_020937.4(FANCM):c.5870T>C (p.Val1957Ala) rs1890211851
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys) rs1441113303
NM_020937.4(FANCM):c.5875A>G (p.Ile1959Val)
NM_020937.4(FANCM):c.5879A>G (p.His1960Arg)
NM_020937.4(FANCM):c.5888C>A (p.Thr1963Lys)
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del) rs769106934
NM_020937.4(FANCM):c.5901TAA[1] (p.Asn1968del) rs1890214050
NM_020937.4(FANCM):c.5903A>G (p.Asn1968Ser)
NM_020937.4(FANCM):c.5910T>G (p.Ser1970Arg) rs2139329050
NM_020937.4(FANCM):c.5914G>A (p.Ala1972Thr) rs2139329078
NM_020937.4(FANCM):c.5927A>G (p.Tyr1976Cys) rs1594486279
NM_020937.4(FANCM):c.5965A>C (p.Asn1989His)
NM_020937.4(FANCM):c.5989G>C (p.Val1997Leu) rs1890218222
NM_020937.4(FANCM):c.5997G>C (p.Arg1999Ser) rs1890218564
NM_020937.4(FANCM):c.6008+1G>A rs984955481
NM_020937.4(FANCM):c.6008+4T>C
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr) rs760258217
NM_020937.4(FANCM):c.6010T>C (p.Ser2004Pro)
NM_020937.4(FANCM):c.6016C>A (p.Gln2006Lys)
NM_020937.4(FANCM):c.6019G>A (p.Glu2007Lys) rs1890266228
NM_020937.4(FANCM):c.6026C>A (p.Ser2009Tyr)
NM_020937.4(FANCM):c.6028A>G (p.Met2010Val) rs776577985
NM_020937.4(FANCM):c.6030G>A (p.Met2010Ile) rs1890267290
NM_020937.4(FANCM):c.6038A>G (p.Gln2013Arg)
NM_020937.4(FANCM):c.6055G>C (p.Ala2019Pro) rs1890268255
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del) rs770012987
NM_020937.4(FANCM):c.605C>T (p.Ala202Val) rs1885579524
NM_020937.4(FANCM):c.6061G>A (p.Glu2021Lys)
NM_020937.4(FANCM):c.6065T>G (p.Ile2022Ser) rs2139331987
NM_020937.4(FANCM):c.6066C>G (p.Ile2022Met) rs2139331995
NM_020937.4(FANCM):c.6071_6076del (p.Arg2024_Tyr2025del) rs773456844
NM_020937.4(FANCM):c.6075T>A (p.Tyr2025Ter)
NM_020937.4(FANCM):c.6075T>G (p.Tyr2025Ter)
NM_020937.4(FANCM):c.6092A>G (p.Asp2031Gly)
NM_020937.4(FANCM):c.6095T>A (p.Ile2032Lys)
NM_020937.4(FANCM):c.6102G>A (p.Met2034Ile) rs1890272153
NM_020937.4(FANCM):c.6122_6125del (p.Gln2041fs)
NM_020937.4(FANCM):c.6137C>A (p.Ser2046Tyr)
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs) rs1594488249
NM_020937.4(FANCM):c.6143del (p.Ile2048fs)
NM_020937.4(FANCM):c.620A>T (p.Glu207Val) rs1885580819
NM_020937.4(FANCM):c.625A>C (p.Lys209Gln) rs1555358657
NM_020937.4(FANCM):c.632T>C (p.Leu211Ser) rs2139107015
NM_020937.4(FANCM):c.642T>A (p.Asp214Glu) rs1885582744
NM_020937.4(FANCM):c.645A>T (p.Glu215Asp) rs1215370736
NM_020937.4(FANCM):c.656C>T (p.Ala219Val) rs1566718197
NM_020937.4(FANCM):c.661G>A (p.Gly221Arg)
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys) rs1594751903
NM_020937.4(FANCM):c.682-5T>G
NM_020937.4(FANCM):c.684T>G (p.Val228=) rs1885848310
NM_020937.4(FANCM):c.695T>A (p.Leu232Gln) rs2139118252
NM_020937.4(FANCM):c.698T>C (p.Val233Ala) rs1885849616
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)
NM_020937.4(FANCM):c.710A>G (p.Asn237Ser) rs760977059
NM_020937.4(FANCM):c.717T>G (p.Phe239Leu) rs1365220972
NM_020937.4(FANCM):c.71G>T (p.Gly24Val) rs1885468827
NM_020937.4(FANCM):c.730C>G (p.Leu244Val) rs376357342
NM_020937.4(FANCM):c.734G>A (p.Ser245Asn)
NM_020937.4(FANCM):c.736G>A (p.Ala246Thr) rs2139118418
NM_020937.4(FANCM):c.746G>C (p.Gly249Ala) rs965199350
NM_020937.4(FANCM):c.748A>G (p.Ser250Gly) rs2139118486
NM_020937.4(FANCM):c.759+2dup rs1885856344
NM_020937.4(FANCM):c.760-4A>G rs1886615518
NM_020937.4(FANCM):c.760-6A>G rs2139151266
NM_020937.4(FANCM):c.760G>A (p.Ala254Thr)
NM_020937.4(FANCM):c.760G>T (p.Ala254Ser)
NM_020937.4(FANCM):c.778A>G (p.Thr260Ala) rs1886617707
NM_020937.4(FANCM):c.787C>A (p.Leu263Ile) rs1594766754
NM_020937.4(FANCM):c.790A>G (p.Ile264Val)
NM_020937.4(FANCM):c.799A>G (p.Ile267Val)
NM_020937.4(FANCM):c.80C>T (p.Ser27Phe) rs1885469771
NM_020937.4(FANCM):c.815A>T (p.Glu272Val) rs1456725108
NM_020937.4(FANCM):c.818A>T (p.Asp273Val)
NM_020937.4(FANCM):c.821C>A (p.Ser274Tyr)
NM_020937.4(FANCM):c.830T>C (p.Ile277Thr)
NM_020937.4(FANCM):c.836C>T (p.Thr279Ile) rs556857964
NM_020937.4(FANCM):c.83G>T (p.Gly28Val) rs1885470299
NM_020937.4(FANCM):c.844C>T (p.His282Tyr) rs955969135
NM_020937.4(FANCM):c.845A>C (p.His282Pro)
NM_020937.4(FANCM):c.851G>A (p.Arg284Lys) rs1886623846
NM_020937.4(FANCM):c.853A>G (p.Lys285Glu) rs1428587779
NM_020937.4(FANCM):c.865C>G (p.Leu289Val) rs1594766833
NM_020937.4(FANCM):c.866T>C (p.Leu289Pro) rs1594766838
NM_020937.4(FANCM):c.871G>A (p.Val291Ile) rs1566732276
NM_020937.4(FANCM):c.874C>A (p.Pro292Thr) rs142747831
NM_020937.4(FANCM):c.877C>T (p.Leu293Phe) rs1886627288
NM_020937.4(FANCM):c.893C>T (p.Ala298Val) rs1316547284
NM_020937.4(FANCM):c.908C>A (p.Thr303Asn) rs980293400
NM_020937.4(FANCM):c.920T>C (p.Ile307Thr) rs2139159942
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys) rs372710600
NM_020937.4(FANCM):c.938G>T (p.Arg313Leu) rs767487612
NM_020937.4(FANCM):c.941C>G (p.Ser314Cys) rs774801698
NM_020937.4(FANCM):c.956A>G (p.Asn319Ser)
NM_020937.4(FANCM):c.958G>A (p.Val320Ile)
NM_020937.4(FANCM):c.95C>T (p.Pro32Leu)
NM_020937.4(FANCM):c.964A>T (p.Met322Leu) rs1886810282
NM_020937.4(FANCM):c.971G>C (p.Arg324Thr) rs2139160191
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser) rs1886810472
NM_020937.4(FANCM):c.989C>T (p.Thr330Ile) rs759774206
NM_020937.4(FANCM):c.98A>C (p.Gln33Pro)
NM_020937.4(FANCM):c.991A>G (p.Lys331Glu)
NM_020937.4(FANCM):c.998A>G (p.Gln333Arg) rs922819033
NM_021625.4(TRPV4):c.-92G>T rs906360195
NM_021625.5(TRPV4):c.*145C>T rs1889461810
NM_021625.5(TRPV4):c.*227A>G rs1889456342
NM_021625.5(TRPV4):c.*2G>A rs1889473862
NM_021625.5(TRPV4):c.*421G>A rs1010774371
NM_021625.5(TRPV4):c.*83C>G rs1360617913
NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val) rs886048940
NM_021625.5(TRPV4):c.171T>C (p.Pro57=) rs886048941
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.5(TRPV4):c.195A>G (p.Pro65=) rs1891742510
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys) rs1889714023
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) rs34071623
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val) rs1890720450
NM_021922.3(FANCE):c.*225T>C rs1767848319
NM_021922.3(FANCE):c.*63C>T rs1767839821
NM_021922.3(FANCE):c.*729A>G rs886061334
NM_021922.3(FANCE):c.-162G>C rs979441521
NM_021922.3(FANCE):c.-182G>A rs886061324
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del) rs2150885287
NM_021922.3(FANCE):c.-32A>T rs1767142098
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu)
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)
NM_021922.3(FANCE):c.1031T>A (p.Leu344His) rs2150894790
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro) rs1767436675
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp)
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val)
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala) rs878855070
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu) rs587778339
NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly) rs1767439057
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys) rs1767440781
NM_021922.3(FANCE):c.1113+6T>C rs764119752
NM_021922.3(FANCE):c.1114-3T>C
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro) rs113175592
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly) rs1233194875
NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe)
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly)
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro) rs2150896332
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala) rs759782690
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro) rs2150885696
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe) rs1256696675
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp) rs1767153896
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp) rs1767499219
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser) rs757769907
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del) rs2150897160
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr) rs936988373
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) rs747692546
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu) rs2150897194
NM_021922.3(FANCE):c.1276A>G (p.Met426Val) rs764652720
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser) rs892819655
NM_021922.3(FANCE):c.1283C>G (p.Ser428Cys)
NM_021922.3(FANCE):c.128G>T (p.Gly43Val) rs1767154137
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg) rs2150897316
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg) rs1554122137
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala) rs2150898436
NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)
NM_021922.3(FANCE):c.134G>T (p.Gly45Val)
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu) rs541746126
NM_021922.3(FANCE):c.1383+6C>G rs763606597
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile) rs759978029
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) rs1767643426
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu) rs1242729665
NM_021922.3(FANCE):c.1459A>G (p.Met487Val) rs373735272
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro) rs1225225979
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe) rs1345207143
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr) rs979790377
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile) rs1442055811
NM_021922.3(FANCE):c.1486G>A (p.Val496Met) rs2150901627
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn) rs2150901647
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro) rs1767156443
NM_021922.3(FANCE):c.14A>T (p.Asp5Val) rs1767146702
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter) rs746321808
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr) rs2150901658
NM_021922.3(FANCE):c.1509+3G>A rs773938335
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala)
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val)
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys)
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr) rs373712711
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln) rs767896075
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter)
NM_021922.3(FANCE):c.1598A>T (p.His533Leu)
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala) rs1060501873
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg) rs1767835596
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?) rs1767835895
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr) rs1561787173
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser) rs1561787173
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr) rs1581696567
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg) rs2150885964
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe) rs2150885989
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro) rs1767159493
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro) rs1309426375
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser) rs587778335
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)
NM_021922.3(FANCE):c.239G>A (p.Arg80His) rs1243363612
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro) rs1767163490
NM_021922.3(FANCE):c.249G>T (p.Leu83=)
NM_021922.3(FANCE):c.256C>G (p.Leu86Val)
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr) rs956659254
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) rs45600543
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro) rs45600543
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu) rs1767301656
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) rs373159305
NM_021922.3(FANCE):c.313G>C (p.Val105Leu) rs373159305
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
NM_021922.3(FANCE):c.387A>T (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His) rs2150890289
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu) rs1220564322
NM_021922.3(FANCE):c.448A>G (p.Met150Val) rs1489457999
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe) rs1016962570
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala) rs2150890589
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser) rs2150890589
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys) rs1767316578
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro) rs1767316710
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.3(FANCE):c.521G>T (p.Gly174Val) rs1014679374
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys)
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser)
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu) rs1767323169
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln) rs373268808
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu) rs2150891086
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala) rs2150891378
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys) rs1287242303
NM_021922.3(FANCE):c.691_693del (p.Lys231del) rs1767333988
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys)
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp) rs1045892220
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe) rs933204286
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn) rs1767336620
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr) rs1330517530
NM_021922.3(FANCE):c.743C>T (p.Ala248Val) rs1767337048
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe) rs1036490024
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)
NM_021922.3(FANCE):c.751A>G (p.Ile251Val)
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
NM_021922.3(FANCE):c.812C>T (p.Ala271Val) rs1060501874
NM_021922.3(FANCE):c.818G>T (p.Gly273Val) rs1468356265
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
NM_021922.3(FANCE):c.855+4C>G
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln) rs2150885592
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg) rs1767398617
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1]) rs780106496
NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)
NM_021922.3(FANCE):c.892T>A (p.Leu298Met)
NM_021922.3(FANCE):c.901-5C>A rs747168225
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln) rs1470052853
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala)
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser) rs372788363
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg) rs139600847
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu) rs139600847
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr) rs1440691539
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn) rs1767417019
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu) rs924383249
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg) rs1034716031
NM_021922.3(FANCE):c.970-6A>G
NM_021922.3(FANCE):c.970-6A>T rs1206121566
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe)
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu) rs1263409404
NM_021922.3(FANCE):c.991C>G (p.Leu331Val) rs45468994
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro)
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe) rs2150894670
NM_021939.3(FKBP10):c.-271G>C rs2047762029
NM_021939.3(FKBP10):c.-35C>A rs2047765734
NM_021939.4(FKBP10):c.*125C>T rs2047906187
NM_021939.4(FKBP10):c.*197T>A rs2047907188
NM_021939.4(FKBP10):c.*293G>A rs2047907943
NM_021939.4(FKBP10):c.*747C>T rs2047913178
NM_021939.4(FKBP10):c.1029C>G (p.Ile343Met) rs782632205
NM_021939.4(FKBP10):c.1256+11G>A rs199627092
NM_021939.4(FKBP10):c.1256+11G>T rs199627092
NM_021939.4(FKBP10):c.1256+17del rs55720039
NM_021939.4(FKBP10):c.1367T>C (p.Val456Ala) rs2047885191
NM_021939.4(FKBP10):c.1382C>T (p.Ala461Val) rs782004558
NM_021939.4(FKBP10):c.1400-6C>T rs782331462
NM_021939.4(FKBP10):c.1403G>A (p.Arg468Gln) rs1555617122
NM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn) rs1597910363
NM_021939.4(FKBP10):c.21C>T (p.Pro7=) rs781985978
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_021939.4(FKBP10):c.385G>A (p.Gly129Ser)
NM_021939.4(FKBP10):c.392-3C>G
NM_021939.4(FKBP10):c.505C>G (p.Arg169Gly) rs782676847
NM_021939.4(FKBP10):c.773T>G (p.Leu258Arg) rs1597907453
NM_021939.4(FKBP10):c.825C>A (p.Leu275=) rs782638955
NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala) rs138089753
NM_022039.4(FBXW4):c.*311_*314dup rs562226127
NM_022039.4(FBXW4):c.*381C>G rs2063775084
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=) rs2064322238
NM_022039.4(FBXW4):c.1302-9C>T rs771930157
NM_022039.4(FBXW4):c.1473C>T (p.His491=) rs147424741
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser) rs2064658916
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly) rs886046645
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter) rs886046644
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys) rs886046643
NM_022039.4(FBXW4):c.504GGC[3] (p.Ala170dup) rs768227529
NM_022039.4(FBXW4):c.507G>A (p.Ala169=) rs1404824736
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser) rs759941552
NM_022039.4(FBXW4):c.923G>A (p.Arg308His) rs771654851
NM_022166.4(XYLT1):c.1028A>G (p.Gln343Arg)
NM_022166.4(XYLT1):c.1033A>C (p.Met345Leu)
NM_022166.4(XYLT1):c.1100T>A (p.Leu367Gln)
NM_022166.4(XYLT1):c.1145G>A (p.Arg382His)
NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg)
NM_022166.4(XYLT1):c.1271C>T (p.Ala424Val)
NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys) rs2141970457
NM_022166.4(XYLT1):c.1322G>A (p.Arg441Gln)
NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu) rs371420301
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys) rs1180844430
NM_022166.4(XYLT1):c.143G>T (p.Gly48Val)
NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu)
NM_022166.4(XYLT1):c.1520C>A (p.Thr507Asn) rs1290402731
NM_022166.4(XYLT1):c.152T>C (p.Val51Ala) rs865812042
NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr) rs561119865
NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met)
NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu) rs2036977208
NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)
NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)
NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys) rs2141515545
NM_022166.4(XYLT1):c.1765-8G>A
NM_022166.4(XYLT1):c.176C>A (p.Pro59Gln)
NM_022166.4(XYLT1):c.178G>A (p.Ala60Thr)
NM_022166.4(XYLT1):c.178GCCCCG[3] (p.60AP[3]) rs965735566
NM_022166.4(XYLT1):c.1793G>A (p.Arg598His)
NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg)
NM_022166.4(XYLT1):c.1883G>A (p.Arg628His)
NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp)
NM_022166.4(XYLT1):c.197A>T (p.Glu66Val)
NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)
NM_022166.4(XYLT1):c.200_208dup (p.Arg67_Asp69dup) rs2036975094
NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln)
NM_022166.4(XYLT1):c.2038A>G (p.Met680Val)
NM_022166.4(XYLT1):c.2047C>A (p.Pro683Thr)
NM_022166.4(XYLT1):c.2050G>A (p.Ala684Thr)
NM_022166.4(XYLT1):c.2069T>C (p.Phe690Ser) rs2141496310
NM_022166.4(XYLT1):c.2071C>G (p.Leu691Val)
NM_022166.4(XYLT1):c.2080C>T (p.Arg694Cys)
NM_022166.4(XYLT1):c.2098A>G (p.Ile700Val)
NM_022166.4(XYLT1):c.2105A>T (p.His702Leu)
NM_022166.4(XYLT1):c.2159T>C (p.Met720Thr)
NM_022166.4(XYLT1):c.2162C>A (p.Pro721Gln) rs767151460
NM_022166.4(XYLT1):c.2169A>T (p.Lys723Asn)
NM_022166.4(XYLT1):c.2192C>G (p.Pro731Arg)
NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile) rs1388039038
NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys)
NM_022166.4(XYLT1):c.2272G>C (p.Gly758Arg)
NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly)
NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr) rs2029899993
NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys) rs1338243795
NM_022166.4(XYLT1):c.2425A>G (p.Lys809Glu)
NM_022166.4(XYLT1):c.249_269del (p.Gly84_Gly90del)
NM_022166.4(XYLT1):c.2519C>A (p.Ala840Glu)
NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser)
NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr)
NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln) rs200659049
NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys) rs769391314
NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)
NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup) rs748140156
NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)
NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr)
NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)
NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del)
NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)
NM_022166.4(XYLT1):c.279_284del (p.Gln94_Ala95del) rs1210050000
NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)
NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp)
NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)
NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu) rs1800826564
NM_022166.4(XYLT1):c.317G>A (p.Arg106Gln) rs1438453537
NM_022166.4(XYLT1):c.317G>C (p.Arg106Pro) rs1438453537
NM_022166.4(XYLT1):c.337C>T (p.Arg113Trp) rs2036970942
NM_022166.4(XYLT1):c.346C>G (p.Leu116Val) rs2036970723
NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu) rs2033690309
NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)
NM_022166.4(XYLT1):c.436G>A (p.Val146Met) rs2033689677
NM_022166.4(XYLT1):c.45C>G (p.His15Gln)
NM_022166.4(XYLT1):c.4G>A (p.Val2Met) rs1567216029
NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile)
NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)
NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala)
NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn)
NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg)
NM_022166.4(XYLT1):c.71TGC[5] (p.Leu27_Gln28insLeu)
NM_022166.4(XYLT1):c.742G>A (p.Glu248Lys) rs765052371
NM_022166.4(XYLT1):c.764C>T (p.Pro255Leu) rs771239606
NM_022166.4(XYLT1):c.809G>A (p.Arg270His)
NM_022166.4(XYLT1):c.829C>T (p.Arg277Cys)
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) rs751753807
NM_022166.4(XYLT1):c.863A>G (p.Lys288Arg)
NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser) rs2141757551
NM_022166.4(XYLT1):c.907C>G (p.Leu303Val)
NM_022166.4(XYLT1):c.914-9T>A rs1244804362
NM_022166.4(XYLT1):c.923A>C (p.Asn308Thr) rs2141589656
NM_022166.4(XYLT1):c.927G>C (p.Lys309Asn) rs1368460695
NM_022166.4(XYLT1):c.952G>A (p.Val318Met)
NM_022166.4(XYLT1):c.958T>C (p.Tyr320His)
NM_022166.4(XYLT1):c.962T>G (p.Met321Arg)
NM_022167.4(XYLT2):c.1581C>A (p.Pro527=) rs377456488
NM_022167.4(XYLT2):c.1985T>C (p.Phe662Ser) rs762379910
NM_022167.4(XYLT2):c.239G>T (p.Arg80Leu) rs371420967
NM_022167.4(XYLT2):c.2443G>T (p.Glu815Ter)
NM_022167.4(XYLT2):c.2585_2586insTAGCAGGCGACTCAG (p.Gly862_Arg863insSerArgArgLeuArg) rs1567809273
NM_022167.4(XYLT2):c.914G>T (p.Arg305Met) rs12451299
NM_022168.4(IFIH1):c.1001G>T (p.Gly334Val) rs2105208967
NM_022168.4(IFIH1):c.1013T>C (p.Val338Ala)
NM_022168.4(IFIH1):c.1024A>G (p.Ile342Val)
NM_022168.4(IFIH1):c.103C>G (p.Leu35Val)
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met) rs72650664
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr) rs762847175
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys) rs887114201
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter) rs887114201
NM_022168.4(IFIH1):c.1069G>A (p.Gly357Arg)
NM_022168.4(IFIH1):c.1070G>A (p.Gly357Glu)
NM_022168.4(IFIH1):c.1075G>C (p.Val359Leu)
NM_022168.4(IFIH1):c.1075G>T (p.Val359Phe)
NM_022168.4(IFIH1):c.1081G>A (p.Val361Ile)
NM_022168.4(IFIH1):c.1084C>G (p.Leu362Val)
NM_022168.4(IFIH1):c.1085T>C (p.Leu362Pro)
NM_022168.4(IFIH1):c.1091A>G (p.Asn364Ser) rs1410059196
NM_022168.4(IFIH1):c.1095+1G>A rs140125523
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1095+4T>C
NM_022168.4(IFIH1):c.1099C>G (p.Leu367Val)
NM_022168.4(IFIH1):c.1114C>G (p.Leu372Val) rs587777576
NM_022168.4(IFIH1):c.1118T>C (p.Phe373Ser) rs2105203313
NM_022168.4(IFIH1):c.1121G>T (p.Arg374Leu) rs145520044
NM_022168.4(IFIH1):c.1133A>G (p.Gln378Arg) rs1682830281
NM_022168.4(IFIH1):c.1150T>C (p.Trp384Arg)
NM_022168.4(IFIH1):c.1151G>C (p.Trp384Ser) rs752544919
NM_022168.4(IFIH1):c.1151G>T (p.Trp384Leu)
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His) rs1682829536
NM_022168.4(IFIH1):c.1156C>T (p.Arg386Cys)
NM_022168.4(IFIH1):c.1157G>T (p.Arg386Leu) rs138611889
NM_022168.4(IFIH1):c.1159G>A (p.Val387Ile) rs374766201
NM_022168.4(IFIH1):c.1159G>T (p.Val387Phe)
NM_022168.4(IFIH1):c.1169T>G (p.Leu390Ter) rs2105203236
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp) rs1304955037
NM_022168.4(IFIH1):c.1181C>A (p.Thr394Asn)
NM_022168.4(IFIH1):c.1191A>G (p.Lys397=) rs1682828092
NM_022168.4(IFIH1):c.1194A>G (p.Ile398Met)
NM_022168.4(IFIH1):c.1196C>G (p.Ser399Ter) rs772585139
NM_022168.4(IFIH1):c.1200T>A (p.Phe400Leu)
NM_022168.4(IFIH1):c.1207G>A (p.Val403Ile)
NM_022168.4(IFIH1):c.1208T>C (p.Val403Ala)
NM_022168.4(IFIH1):c.1211T>C (p.Val404Ala) rs111797285
NM_022168.4(IFIH1):c.1220G>A (p.Cys407Tyr)
NM_022168.4(IFIH1):c.1229T>C (p.Ile410Thr) rs746025085
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr) rs1682827216
NM_022168.4(IFIH1):c.1238C>T (p.Thr413Ile)
NM_022168.4(IFIH1):c.1250T>A (p.Leu417His)
NM_022168.4(IFIH1):c.1261C>T (p.Leu421Phe)
NM_022168.4(IFIH1):c.1270T>G (p.Leu424Val) rs762510649
NM_022168.4(IFIH1):c.1271del (p.Leu424fs) rs1180019447
NM_022168.4(IFIH1):c.1288G>T (p.Ala430Ser) rs2105203031
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr) rs1682826089
NM_022168.4(IFIH1):c.1306+6T>C rs2105202990
NM_022168.4(IFIH1):c.1321A>G (p.Ile441Val) rs2105202129
NM_022168.4(IFIH1):c.1321A>T (p.Ile441Phe)
NM_022168.4(IFIH1):c.1322T>C (p.Ile441Thr)
NM_022168.4(IFIH1):c.1324A>G (p.Ile442Val)
NM_022168.4(IFIH1):c.1342_1343del (p.Thr448fs)
NM_022168.4(IFIH1):c.1343C>T (p.Thr448Ile) rs1576226711
NM_022168.4(IFIH1):c.1345A>C (p.Asn449His)
NM_022168.4(IFIH1):c.1353A>C (p.Glu451Asp) rs764763183
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu) rs147642994
NM_022168.4(IFIH1):c.1357G>A (p.Val453Met) rs367921237
NM_022168.4(IFIH1):c.1368C>G (p.Asn456Lys) rs1682808224
NM_022168.4(IFIH1):c.1378_1379inv (p.His460Cys)
NM_022168.4(IFIH1):c.1380T>A (p.His460Gln)
NM_022168.4(IFIH1):c.1384T>G (p.Leu462Val) rs2105201962
NM_022168.4(IFIH1):c.1387A>T (p.Met463Leu) rs1247355630
NM_022168.4(IFIH1):c.1388T>G (p.Met463Arg)
NM_022168.4(IFIH1):c.138T>G (p.Ile46Met)
NM_022168.4(IFIH1):c.1405A>G (p.Asn469Asp)
NM_022168.4(IFIH1):c.1406A>G (p.Asn469Ser)
NM_022168.4(IFIH1):c.1407_1417del (p.Asn469fs)
NM_022168.4(IFIH1):c.1419del (p.Glu474fs) rs2105201912
NM_022168.4(IFIH1):c.1431_1439del (p.Val478_Pro480del)
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met) rs1018712289
NM_022168.4(IFIH1):c.1439C>A (p.Pro480His) rs753401995
NM_022168.4(IFIH1):c.1449G>C (p.Gln483His)
NM_022168.4(IFIH1):c.1457G>A (p.Gly486Glu)
NM_022168.4(IFIH1):c.1463C>G (p.Thr488Arg)
NM_022168.4(IFIH1):c.1471C>T (p.Pro491Ser)
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp) rs1474848285
NM_022168.4(IFIH1):c.1480G>A (p.Gly494Arg) rs1682805179
NM_022168.4(IFIH1):c.1483G>C (p.Gly495Arg)
NM_022168.4(IFIH1):c.1484G>C (p.Gly495Ala)
NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp)
NM_022168.4(IFIH1):c.148G>T (p.Val50Phe)
NM_022168.4(IFIH1):c.1499C>G (p.Ala500Gly)
NM_022168.4(IFIH1):c.149T>G (p.Val50Gly)
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser) rs1485039163
NM_022168.4(IFIH1):c.14A>G (p.Tyr5Cys)
NM_022168.4(IFIH1):c.14_15del (p.Tyr5fs)
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys) rs772032662
NM_022168.4(IFIH1):c.1513C>T (p.His505Tyr)
NM_022168.4(IFIH1):c.1515C>G (p.His505Gln) rs147738489
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.1524+1G>T rs898118498
NM_022168.4(IFIH1):c.1524+2T>G rs865898522
NM_022168.4(IFIH1):c.1524+5G>A
NM_022168.4(IFIH1):c.1524+5G>C
NM_022168.4(IFIH1):c.1525C>T (p.Leu509=) rs2105200537
NM_022168.4(IFIH1):c.1526T>G (p.Leu509Arg) rs770811079
NM_022168.4(IFIH1):c.1528T>C (p.Cys510Arg) rs1576226013
NM_022168.4(IFIH1):c.1534A>C (p.Asn512His) rs2105200526
NM_022168.4(IFIH1):c.1534A>G (p.Asn512Asp)
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser) rs370753836
NM_022168.4(IFIH1):c.1540G>C (p.Asp514His)
NM_022168.4(IFIH1):c.1550C>T (p.Thr517Ile) rs2105200508
NM_022168.4(IFIH1):c.1555A>C (p.Lys519Gln)
NM_022168.4(IFIH1):c.1562T>C (p.Val521Ala) rs2105200485
NM_022168.4(IFIH1):c.1567G>C (p.Glu523Gln)
NM_022168.4(IFIH1):c.1572C>A (p.Asn524Lys)
NM_022168.4(IFIH1):c.1579C>A (p.Gln527Lys)
NM_022168.4(IFIH1):c.1583T>C (p.Leu528Pro)
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.1592A>G (p.Gln531Arg)
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr) rs764183171
NM_022168.4(IFIH1):c.1603C>T (p.Pro535Ser) rs764183171
NM_022168.4(IFIH1):c.1616T>C (p.Phe539Ser)
NM_022168.4(IFIH1):c.1627G>T (p.Asp543Tyr)
NM_022168.4(IFIH1):c.1628A>G (p.Asp543Gly)
NM_022168.4(IFIH1):c.162del (p.Asn55fs)
NM_022168.4(IFIH1):c.1641+16T>A
NM_022168.4(IFIH1):c.1641+1G>A
NM_022168.4(IFIH1):c.1641+3A>G
NM_022168.4(IFIH1):c.1642-1G>A rs1682743875
NM_022168.4(IFIH1):c.1650T>A (p.Phe550Leu)
NM_022168.4(IFIH1):c.1652A>C (p.Lys551Thr)
NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs)
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys) rs1193030860
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys) rs111732322
NM_022168.4(IFIH1):c.1674G>A (p.Met558Ile)
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro) rs752832328
NM_022168.4(IFIH1):c.1679G>A (p.Arg560Lys)
NM_022168.4(IFIH1):c.1687A>T (p.Thr563Ser) rs2105198654
NM_022168.4(IFIH1):c.1689_1690del (p.Tyr564fs) rs1464362256
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1724C>T (p.Thr575Ile)
NM_022168.4(IFIH1):c.1726C>T (p.Gln576Ter) rs2105198568
NM_022168.4(IFIH1):c.1744G>A (p.Ala582Thr)
NM_022168.4(IFIH1):c.1751A>T (p.Gln584Leu)
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)
NM_022168.4(IFIH1):c.1762A>C (p.Lys588Gln)
NM_022168.4(IFIH1):c.1764del (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1765+1del rs1227440828
NM_022168.4(IFIH1):c.1765+2T>C
NM_022168.4(IFIH1):c.1765+5T>G rs1682738622
NM_022168.4(IFIH1):c.1766C>T (p.Ala589Val)
NM_022168.4(IFIH1):c.1769C>G (p.Ala590Gly) rs768993250
NM_022168.4(IFIH1):c.1769C>T (p.Ala590Val)
NM_022168.4(IFIH1):c.1774G>A (p.Glu592Lys)
NM_022168.4(IFIH1):c.1783C>A (p.Arg595Ser)
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys) rs191839015
NM_022168.4(IFIH1):c.1787A>G (p.Lys596Arg)
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys) rs963903258
NM_022168.4(IFIH1):c.1789G>C (p.Glu597Gln)
NM_022168.4(IFIH1):c.1792C>T (p.Arg598Cys)
NM_022168.4(IFIH1):c.1801G>A (p.Ala601Thr)
NM_022168.4(IFIH1):c.1808A>G (p.His603Arg)
NM_022168.4(IFIH1):c.1818G>C (p.Lys606Asn) rs2105197801
NM_022168.4(IFIH1):c.1819T>C (p.Tyr607His)
NM_022168.4(IFIH1):c.1822_1824del (p.Asn608del)
NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)
NM_022168.4(IFIH1):c.1829C>A (p.Ala610Asp)
NM_022168.4(IFIH1):c.1837A>G (p.Ile613Val) rs1235926337
NM_022168.4(IFIH1):c.1844A>G (p.Asp615Gly)
NM_022168.4(IFIH1):c.1846A>C (p.Thr616Pro)
NM_022168.4(IFIH1):c.1847C>T (p.Thr616Ile)
NM_022168.4(IFIH1):c.1861G>T (p.Asp621Tyr)
NM_022168.4(IFIH1):c.1862A>T (p.Asp621Val)
NM_022168.4(IFIH1):c.1864G>A (p.Ala622Thr)
NM_022168.4(IFIH1):c.1865C>A (p.Ala622Glu)
NM_022168.4(IFIH1):c.1876C>G (p.Leu626Val)
NM_022168.4(IFIH1):c.1885T>C (p.Phe629Leu) rs145818112
NM_022168.4(IFIH1):c.1894G>A (p.Glu632Lys)
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile) rs1682719356
NM_022168.4(IFIH1):c.1922_1923del (p.Ile641fs) rs2105197614
NM_022168.4(IFIH1):c.1928A>T (p.Asp643Val)
NM_022168.4(IFIH1):c.1934G>C (p.Ser645Thr)
NM_022168.4(IFIH1):c.1936G>A (p.Asp646Asn)
NM_022168.4(IFIH1):c.1936G>C (p.Asp646His)
NM_022168.4(IFIH1):c.193A>C (p.Thr65Pro)
NM_022168.4(IFIH1):c.1940A>G (p.Glu647Gly)
NM_022168.4(IFIH1):c.1943del (p.Gly648fs) rs751231371
NM_022168.4(IFIH1):c.1949A>G (p.Asp650Gly)
NM_022168.4(IFIH1):c.194C>G (p.Thr65Ser)
NM_022168.4(IFIH1):c.194C>T (p.Thr65Ile)
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp) rs1682717892
NM_022168.4(IFIH1):c.1976A>C (p.Asp659Ala) rs2105197504
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn) rs2105197482
NM_022168.4(IFIH1):c.1990A>C (p.Lys664Gln)
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn) rs2105197453
NM_022168.4(IFIH1):c.1996C>G (p.Pro666Ala)
NM_022168.4(IFIH1):c.199G>C (p.Glu67Gln) rs2105238398
NM_022168.4(IFIH1):c.19A>G (p.Thr7Ala)
NM_022168.4(IFIH1):c.2006T>G (p.Leu669Arg)
NM_022168.4(IFIH1):c.2008G>A (p.Asp670Asn) rs370203250
NM_022168.4(IFIH1):c.2012A>G (p.Glu671Gly) rs1682715644
NM_022168.4(IFIH1):c.2019_2020del (p.Asp673fs) rs2105197403
NM_022168.4(IFIH1):c.201G>T (p.Glu67Asp) rs2105238393
NM_022168.4(IFIH1):c.2021G>A (p.Arg674Lys)
NM_022168.4(IFIH1):c.2021G>C (p.Arg674Thr) rs758006242
NM_022168.4(IFIH1):c.2022A>G (p.Arg674=)
NM_022168.4(IFIH1):c.2030T>C (p.Met677Thr) rs1268091953
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2037_2042dup (p.Phe680_Phe681insLeuPhe)
NM_022168.4(IFIH1):c.2044+12A>G
NM_022168.4(IFIH1):c.2045-1G>T rs748813106
NM_022168.4(IFIH1):c.2046A>C (p.Glu682Asp)
NM_022168.4(IFIH1):c.2056A>G (p.Met686Val)
NM_022168.4(IFIH1):c.2061G>T (p.Leu687Phe)
NM_022168.4(IFIH1):c.2066G>A (p.Arg689Lys)
NM_022168.4(IFIH1):c.2068del (p.Leu690fs)
NM_022168.4(IFIH1):c.2072C>A (p.Ala691Asp)
NM_022168.4(IFIH1):c.2072C>T (p.Ala691Val)
NM_022168.4(IFIH1):c.2092_2304+447del
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer) rs1682679223
NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln)
NM_022168.4(IFIH1):c.2111dup (p.Leu704fs)
NM_022168.4(IFIH1):c.2113A>G (p.Arg705Gly)
NM_022168.4(IFIH1):c.2120C>A (p.Thr707Asn) rs2105196747
NM_022168.4(IFIH1):c.2127G>A (p.Met709Ile)
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
NM_022168.4(IFIH1):c.2150A>G (p.Glu717Gly)
NM_022168.4(IFIH1):c.2152T>C (p.Ser718Pro) rs2105196679
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly) rs761864966
NM_022168.4(IFIH1):c.2158C>T (p.Arg720Ter)
NM_022168.4(IFIH1):c.2159G>T (p.Arg720Leu)
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg) rs2105196666
NM_022168.4(IFIH1):c.216C>A (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.216C>G (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn) rs375745122
NM_022168.4(IFIH1):c.2189G>C (p.Ser730Thr)
NM_022168.4(IFIH1):c.2191G>A (p.Ala731Thr)
NM_022168.4(IFIH1):c.2196T>A (p.Tyr732Ter)
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
NM_022168.4(IFIH1):c.2203T>G (p.Ser735Ala) rs1268036060
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg) rs1683544639
NM_022168.4(IFIH1):c.2212A>G (p.Ile738Val)
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) rs745948096
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp) rs765738865
NM_022168.4(IFIH1):c.2223T>A (p.Asn741Lys)
NM_022168.4(IFIH1):c.2231T>G (p.Phe744Cys)
NM_022168.4(IFIH1):c.223T>A (p.Trp75Arg) rs750844573
NM_022168.4(IFIH1):c.224G>C (p.Trp75Ser)
NM_022168.4(IFIH1):c.2257C>T (p.His753Tyr)
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln) rs1682675340
NM_022168.4(IFIH1):c.2261T>A (p.Leu754Gln)
NM_022168.4(IFIH1):c.226A>T (p.Thr76Ser) rs957068367
NM_022168.4(IFIH1):c.2277C>A (p.His759Gln)
NM_022168.4(IFIH1):c.227C>T (p.Thr76Ile)
NM_022168.4(IFIH1):c.2280del (p.Ser760fs)
NM_022168.4(IFIH1):c.2286G>C (p.Glu762Asp)
NM_022168.4(IFIH1):c.2287T>C (p.Phe763Leu)
NM_022168.4(IFIH1):c.2299A>G (p.Thr767Ala) rs766399254
NM_022168.4(IFIH1):c.2300C>T (p.Thr767Ile) rs2105196465
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2304G>A (p.Gln768=)
NM_022168.4(IFIH1):c.2305-3C>T rs2105193842
NM_022168.4(IFIH1):c.230G>C (p.Arg77Pro) rs367851471
NM_022168.4(IFIH1):c.2315AAG[1] (p.Glu773del)
NM_022168.4(IFIH1):c.2321_2323delinsGTT (p.Val774_Ile775delinsGlyPhe) rs2105193797
NM_022168.4(IFIH1):c.2323A>G (p.Ile775Val) rs1691096839
NM_022168.4(IFIH1):c.2324_2326del (p.Ile775del) rs2105193787
NM_022168.4(IFIH1):c.2339C>G (p.Thr780Ser)
NM_022168.4(IFIH1):c.2345A>G (p.Lys782Arg) rs2105193747
NM_022168.4(IFIH1):c.2351A>G (p.Asn784Ser)
NM_022168.4(IFIH1):c.2372T>C (p.Val791Ala) rs2105193712
NM_022168.4(IFIH1):c.238G>A (p.Val80Met)
NM_022168.4(IFIH1):c.2400A>C (p.Glu800Asp)
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2407A>C (p.Ile803Leu)
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr) rs778884536
NM_022168.4(IFIH1):c.2413A>G (p.Ile805Val)
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe) rs1691095136
NM_022168.4(IFIH1):c.241G>A (p.Glu81Lys) rs2105238289
NM_022168.4(IFIH1):c.2420A>G (p.Tyr807Cys) rs752226580
NM_022168.4(IFIH1):c.2426T>C (p.Leu809Pro)
NM_022168.4(IFIH1):c.2429T>A (p.Val810Asp)
NM_022168.4(IFIH1):c.242A>C (p.Glu81Ala) rs1168844368
NM_022168.4(IFIH1):c.2443G>A (p.Ala815Thr)
NM_022168.4(IFIH1):c.2449G>A (p.Val817Ile)
NM_022168.4(IFIH1):c.2454+1G>T rs778780074
NM_022168.4(IFIH1):c.2454+4C>A
NM_022168.4(IFIH1):c.2454+4C>G
NM_022168.4(IFIH1):c.2454+6T>G
NM_022168.4(IFIH1):c.2454G>A (p.Gln818=)
NM_022168.4(IFIH1):c.2455-1G>A
NM_022168.4(IFIH1):c.2455-6T>A rs2105192046
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.2459G>T (p.Arg820Leu) rs74162087
NM_022168.4(IFIH1):c.247C>T (p.Leu83Phe)
NM_022168.4(IFIH1):c.2481G>C (p.Glu827Asp)
NM_022168.4(IFIH1):c.2483G>T (p.Ser828Ile)
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
NM_022168.4(IFIH1):c.250C>G (p.Arg84Gly)
NM_022168.4(IFIH1):c.2515G>C (p.Gly839Arg)
NM_022168.4(IFIH1):c.2525A>T (p.Glu842Val)
NM_022168.4(IFIH1):c.2527_2528inv (p.His843Cys)
NM_022168.4(IFIH1):c.2530G>C (p.Glu844Gln)
NM_022168.4(IFIH1):c.2542G>A (p.Asp848Asn)
NM_022168.4(IFIH1):c.2549G>C (p.Arg850Pro) rs370618144
NM_022168.4(IFIH1):c.2558T>C (p.Met853Thr) rs1691055209
NM_022168.4(IFIH1):c.2560A>T (p.Met854Leu)
NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr) rs768238624
NM_022168.4(IFIH1):c.2569G>C (p.Ala857Pro)
NM_022168.4(IFIH1):c.2574A>G (p.Ile858Met)
NM_022168.4(IFIH1):c.2575C>G (p.His859Asp) rs373382295
NM_022168.4(IFIH1):c.2576A>G (p.His859Arg)
NM_022168.4(IFIH1):c.257C>T (p.Thr86Ile) rs2105238259
NM_022168.4(IFIH1):c.2581del (p.Val861fs)
NM_022168.4(IFIH1):c.2587A>G (p.Asn863Asp)
NM_022168.4(IFIH1):c.2591T>C (p.Met864Thr)
NM_022168.4(IFIH1):c.2596C>T (p.Pro866Ser)
NM_022168.4(IFIH1):c.259G>A (p.Gly87Ser)
NM_022168.4(IFIH1):c.2601G>C (p.Glu867Asp) rs764489663
NM_022168.4(IFIH1):c.2604G>C (p.Glu868Asp) rs760907862
NM_022168.4(IFIH1):c.2609C>T (p.Ala870Val)
NM_022168.4(IFIH1):c.2614A>C (p.Lys872Gln)
NM_022168.4(IFIH1):c.2616+3A>T
NM_022168.4(IFIH1):c.2616+6G>A rs761784724
NM_022168.4(IFIH1):c.2616G>C (p.Lys872Asn)
NM_022168.4(IFIH1):c.2617-1G>T
NM_022168.4(IFIH1):c.2618T>G (p.Ile873Ser)
NM_022168.4(IFIH1):c.2623G>A (p.Glu875Lys)
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
NM_022168.4(IFIH1):c.2639G>T (p.Ser880Ile)
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val) rs1169761887
NM_022168.4(IFIH1):c.2644A>C (p.Met882Leu) rs2105187946
NM_022168.4(IFIH1):c.2652G>T (p.Lys884Asn)
NM_022168.4(IFIH1):c.2658G>A (p.Met886Ile) rs2105187934
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter) rs1252022173
NM_022168.4(IFIH1):c.2687A>C (p.Tyr896Ser)
NM_022168.4(IFIH1):c.2689A>C (p.Lys897Gln)
NM_022168.4(IFIH1):c.2707A>T (p.Ile903Leu)
NM_022168.4(IFIH1):c.2713T>C (p.Phe905Leu)
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe) rs1690962431
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile) rs1690962335
NM_022168.4(IFIH1):c.2728T>A (p.Cys910Ser)
NM_022168.4(IFIH1):c.2734G>C (p.Val912Leu) rs763049591
NM_022168.4(IFIH1):c.2744G>A (p.Cys915Tyr)
NM_022168.4(IFIH1):c.2755G>T (p.Asp919Tyr)
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr) rs748895438
NM_022168.4(IFIH1):c.275C>T (p.Ala92Val) rs2105238199
NM_022168.4(IFIH1):c.2770G>A (p.Glu924Lys) rs2105187737
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly) rs1690960964
NM_022168.4(IFIH1):c.2777T>C (p.Met926Thr)
NM_022168.4(IFIH1):c.2778G>A (p.Met926Ile)
NM_022168.4(IFIH1):c.277C>G (p.Arg93Gly) rs947699715
NM_022168.4(IFIH1):c.2780A>T (p.His927Leu) rs747311719
NM_022168.4(IFIH1):c.2783_2784delinsG (p.His928fs)
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp) rs374202040
NM_022168.4(IFIH1):c.2789A>G (p.Asn930Ser)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile) rs1576220013
NM_022168.4(IFIH1):c.2795C>A (p.Thr932Asn)
NM_022168.4(IFIH1):c.2798del (p.Pro933fs)
NM_022168.4(IFIH1):c.2800G>A (p.Glu934Lys)
NM_022168.4(IFIH1):c.2810A>G (p.Glu937Gly)
NM_022168.4(IFIH1):c.2812C>G (p.Leu938Val) rs2105187108
NM_022168.4(IFIH1):c.2812del (p.Leu938fs) rs2105187112
NM_022168.4(IFIH1):c.2816del (p.Tyr939fs)
NM_022168.4(IFIH1):c.2818A>T (p.Ile940Phe)
NM_022168.4(IFIH1):c.2820T>G (p.Ile940Met) rs2105187091
NM_022168.4(IFIH1):c.2827G>T (p.Glu943Ter) rs2105187079
NM_022168.4(IFIH1):c.2832C>G (p.Asn944Lys)
NM_022168.4(IFIH1):c.2832del (p.Asn944fs)
NM_022168.4(IFIH1):c.2847G>C (p.Lys949Asn)
NM_022168.4(IFIH1):c.284T>C (p.Met95Thr) rs769741397
NM_022168.4(IFIH1):c.2850G>T (p.Lys950Asn) rs2105187036
NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu)
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile) rs748006043
NM_022168.4(IFIH1):c.2867T>A (p.Ile956Lys)
NM_022168.4(IFIH1):c.2867T>C (p.Ile956Thr)
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser) rs1466752669
NM_022168.4(IFIH1):c.2884T>C (p.Cys962Arg) rs1559808756
NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val) rs2105186932
NM_022168.4(IFIH1):c.2898+4A>G
NM_022168.4(IFIH1):c.2898G>C (p.Gln966His)
NM_022168.4(IFIH1):c.2899G>A (p.Ala967Thr)
NM_022168.4(IFIH1):c.2899G>C (p.Ala967Pro)
NM_022168.4(IFIH1):c.289C>A (p.Pro97Thr)
NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter) rs1690944637
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu) rs2105186745
NM_022168.4(IFIH1):c.2922C>G (p.His974Gln)
NM_022168.4(IFIH1):c.2932G>C (p.Asp978His)
NM_022168.4(IFIH1):c.2942G>T (p.Cys981Phe)
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
NM_022168.4(IFIH1):c.2950A>G (p.Ile984Val)
NM_022168.4(IFIH1):c.2952A>G (p.Ile984Met)
NM_022168.4(IFIH1):c.2954G>C (p.Arg985Thr)
NM_022168.4(IFIH1):c.2960T>C (p.Phe987Ser)
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile) rs74162090
NM_022168.4(IFIH1):c.296T>C (p.Leu99Pro) rs751197215
NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu) rs763358277
NM_022168.4(IFIH1):c.2978A>C (p.Asn993Thr) rs2105186636
NM_022168.4(IFIH1):c.2990del (p.Lys997fs) rs2105186622
NM_022168.4(IFIH1):c.3001A>G (p.Lys1001Glu)
NM_022168.4(IFIH1):c.3003A>C (p.Lys1001Asn)
NM_022168.4(IFIH1):c.3005A>C (p.Lys1002Thr)
NM_022168.4(IFIH1):c.3006G>T (p.Lys1002Asn)
NM_022168.4(IFIH1):c.3025A>G (p.Thr1009Ala) rs1690942148
NM_022168.4(IFIH1):c.3026C>G (p.Thr1009Arg)
NM_022168.4(IFIH1):c.3042C>G (p.Asp1014Glu)
NM_022168.4(IFIH1):c.3044A>G (p.Tyr1015Cys)
NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly)
NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr) rs1559808617
NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)
NM_022168.4(IFIH1):c.313_314delinsGA (p.Pro105Glu)
NM_022168.4(IFIH1):c.319T>G (p.Phe107Val) rs1047156211
NM_022168.4(IFIH1):c.322G>A (p.Glu108Lys)
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser) rs1355798943
NM_022168.4(IFIH1):c.332A>G (p.His111Arg) rs2105237997
NM_022168.4(IFIH1):c.337G>A (p.Glu113Lys) rs1419235573
NM_022168.4(IFIH1):c.337G>T (p.Glu113Ter)
NM_022168.4(IFIH1):c.340T>A (p.Tyr114Asn)
NM_022168.4(IFIH1):c.343C>T (p.Leu115Phe)
NM_022168.4(IFIH1):c.364C>T (p.Gln122Ter)
NM_022168.4(IFIH1):c.366G>T (p.Gln122His)
NM_022168.4(IFIH1):c.367C>A (p.Pro123Thr)
NM_022168.4(IFIH1):c.367C>T (p.Pro123Ser) rs1683538119
NM_022168.4(IFIH1):c.36C>G (p.Arg12=) rs1683553380
NM_022168.4(IFIH1):c.373C>A (p.Leu125Met) rs139219083
NM_022168.4(IFIH1):c.373C>G (p.Leu125Val) rs139219083
NM_022168.4(IFIH1):c.384G>C (p.Lys128Asn)
NM_022168.4(IFIH1):c.386T>C (p.Leu129Pro) rs2105237875
NM_022168.4(IFIH1):c.389T>C (p.Leu130Pro) rs1683537130
NM_022168.4(IFIH1):c.391G>A (p.Val131Ile) rs2105237866
NM_022168.4(IFIH1):c.406G>A (p.Asp136Asn) rs1683536418
NM_022168.4(IFIH1):c.412T>A (p.Cys138Ser) rs759791512
NM_022168.4(IFIH1):c.413G>T (p.Cys138Phe)
NM_022168.4(IFIH1):c.416T>C (p.Met139Thr)
NM_022168.4(IFIH1):c.418G>T (p.Glu140Ter) rs766508793
NM_022168.4(IFIH1):c.443A>G (p.Asp148Gly)
NM_022168.4(IFIH1):c.448A>G (p.Asn150Asp) rs2105237729
NM_022168.4(IFIH1):c.448_453+39del
NM_022168.4(IFIH1):c.454-3C>G rs2105230636
NM_022168.4(IFIH1):c.454-4A>G rs1683376303
NM_022168.4(IFIH1):c.456del (p.Ile152fs) rs1683376227
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_022168.4(IFIH1):c.460G>C (p.Ala154Pro)
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp) rs372313271
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser) rs1007619458
NM_022168.4(IFIH1):c.496G>C (p.Glu166Gln)
NM_022168.4(IFIH1):c.4T>A (p.Ser2Thr)
NM_022168.4(IFIH1):c.505A>G (p.Lys169Glu)
NM_022168.4(IFIH1):c.510G>C (p.Arg170Ser) rs2105230566
NM_022168.4(IFIH1):c.511A>C (p.Ile171Leu)
NM_022168.4(IFIH1):c.523G>A (p.Glu175Lys)
NM_022168.4(IFIH1):c.538G>A (p.Ala180Thr)
NM_022168.4(IFIH1):c.542T>C (p.Phe181Ser)
NM_022168.4(IFIH1):c.54C>G (p.Phe18Leu)
NM_022168.4(IFIH1):c.554T>C (p.Leu185Pro)
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro) rs189443152
NM_022168.4(IFIH1):c.574G>A (p.Glu192Lys)
NM_022168.4(IFIH1):c.577C>A (p.Leu193Ile)
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg) rs1558876231
NM_022168.4(IFIH1):c.592A>G (p.Thr198Ala) rs1683373192
NM_022168.4(IFIH1):c.596G>T (p.Gly199Val)
NM_022168.4(IFIH1):c.599C>T (p.Ser200Phe) rs2105230439
NM_022168.4(IFIH1):c.602A>C (p.Asp201Ala)
NM_022168.4(IFIH1):c.614G>A (p.Ser205Asn)
NM_022168.4(IFIH1):c.617A>G (p.Asn206Ser)
NM_022168.4(IFIH1):c.61A>G (p.Arg21Gly)
NM_022168.4(IFIH1):c.622+3A>G
NM_022168.4(IFIH1):c.623-1G>A
NM_022168.4(IFIH1):c.626T>C (p.Ile209Thr)
NM_022168.4(IFIH1):c.629A>C (p.Glu210Ala)
NM_022168.4(IFIH1):c.633T>A (p.Asn211Lys)
NM_022168.4(IFIH1):c.63G>C (p.Arg21Ser) rs553228814
NM_022168.4(IFIH1):c.646G>A (p.Asp216Asn)
NM_022168.4(IFIH1):c.64G>A (p.Val22Met)
NM_022168.4(IFIH1):c.652C>A (p.Pro218Thr) rs2105226887
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala) rs1396124415
NM_022168.4(IFIH1):c.680C>A (p.Thr227Asn)
NM_022168.4(IFIH1):c.699G>A (p.Leu233=)
NM_022168.4(IFIH1):c.703A>G (p.Lys235Glu)
NM_022168.4(IFIH1):c.705G>T (p.Lys235Asn)
NM_022168.4(IFIH1):c.713G>A (p.Trp238Ter) rs1346345254
NM_022168.4(IFIH1):c.728A>G (p.Asn243Ser)
NM_022168.4(IFIH1):c.730T>A (p.Ser244Thr) rs753380568
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_022168.4(IFIH1):c.737_739dup (p.Ser247Ter) rs1399614346
NM_022168.4(IFIH1):c.764T>C (p.Val255Ala) rs771145026
NM_022168.4(IFIH1):c.766T>G (p.Ser256Ala)
NM_022168.4(IFIH1):c.768A>G (p.Ser256=)
NM_022168.4(IFIH1):c.769+3A>G rs769979161
NM_022168.4(IFIH1):c.770-10T>C rs1683038128
NM_022168.4(IFIH1):c.775G>C (p.Asp259His)
NM_022168.4(IFIH1):c.77T>C (p.Ile26Thr) rs1442046271
NM_022168.4(IFIH1):c.787G>A (p.Ala263Thr)
NM_022168.4(IFIH1):c.78C>G (p.Ile26Met)
NM_022168.4(IFIH1):c.797G>A (p.Ser266Asn)
NM_022168.4(IFIH1):c.797G>C (p.Ser266Thr)
NM_022168.4(IFIH1):c.80A>C (p.Gln27Pro) rs1261297304
NM_022168.4(IFIH1):c.80A>G (p.Gln27Arg)
NM_022168.4(IFIH1):c.810A>C (p.Leu270Phe)
NM_022168.4(IFIH1):c.811G>T (p.Asp271Tyr) rs544744271
NM_022168.4(IFIH1):c.828T>A (p.His276Gln) rs2105214711
NM_022168.4(IFIH1):c.829A>G (p.Asn277Asp)
NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)
NM_022168.4(IFIH1):c.855_874+1dup
NM_022168.4(IFIH1):c.860T>C (p.Met287Thr)
NM_022168.4(IFIH1):c.863G>T (p.Gly288Val)
NM_022168.4(IFIH1):c.865A>G (p.Ser289Gly)
NM_022168.4(IFIH1):c.871T>A (p.Ser291Thr)
NM_022168.4(IFIH1):c.874+6G>T
NM_022168.4(IFIH1):c.875-11A>G
NM_022168.4(IFIH1):c.875-1G>C rs1682933667
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly) rs2105209194
NM_022168.4(IFIH1):c.896G>T (p.Arg299Ile)
NM_022168.4(IFIH1):c.8A>G (p.Asn3Ser) rs2105238788
NM_022168.4(IFIH1):c.901T>C (p.Ser301Pro)
NM_022168.4(IFIH1):c.902C>T (p.Ser301Phe) rs764283944
NM_022168.4(IFIH1):c.905C>T (p.Pro302Leu)
NM_022168.4(IFIH1):c.911C>T (p.Pro304Leu) rs1682932788
NM_022168.4(IFIH1):c.91G>T (p.Val31Leu) rs1683550615
NM_022168.4(IFIH1):c.926G>C (p.Arg309Thr)
NM_022168.4(IFIH1):c.929del (p.Pro310fs) rs1212715492
NM_022168.4(IFIH1):c.937del (p.Met313fs)
NM_022168.4(IFIH1):c.946G>A (p.Ala316Thr) rs1355343871
NM_022168.4(IFIH1):c.946G>T (p.Ala316Ser) rs1355343871
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly) rs1682931873
NM_022168.4(IFIH1):c.971A>G (p.Asn324Ser) rs2105209017
NM_022168.4(IFIH1):c.973A>T (p.Ile325Phe) rs1474944804
NM_022168.4(IFIH1):c.974T>C (p.Ile325Thr)
NM_022168.4(IFIH1):c.977T>C (p.Ile326Thr) rs1682931491
NM_022168.4(IFIH1):c.97G>T (p.Asp33Tyr)
NM_022168.4(IFIH1):c.980T>C (p.Ile327Thr)
NM_022168.4(IFIH1):c.996G>T (p.Gly332=) rs1576229569
NM_022168.4(IFIH1):c.997A>G (p.Ser333Gly)
NM_022356.4(P3H1):c.1003G>A (p.Glu335Lys) rs941343754
NM_022356.4(P3H1):c.1018A>G (p.Asn340Asp)
NM_022356.4(P3H1):c.1019A>G (p.Asn340Ser) rs759697322
NM_022356.4(P3H1):c.1021T>G (p.Leu341Val) rs1652488613
NM_022356.4(P3H1):c.1027T>C (p.Tyr343His)
NM_022356.4(P3H1):c.103C>T (p.Pro35Ser) rs2124176478
NM_022356.4(P3H1):c.1066A>T (p.Ile356Phe)
NM_022356.4(P3H1):c.1067T>A (p.Ile356Asn) rs1184804170
NM_022356.4(P3H1):c.1075C>G (p.Arg359Gly) rs548639069
NM_022356.4(P3H1):c.1080+3G>A
NM_022356.4(P3H1):c.1080+3G>C
NM_022356.4(P3H1):c.109C>G (p.Leu37Val)
NM_022356.4(P3H1):c.1102C>G (p.Arg368Gly) rs118203996
NM_022356.4(P3H1):c.112C>T (p.Leu38Phe) rs2124176450
NM_022356.4(P3H1):c.1169C>T (p.Pro390Leu)
NM_022356.4(P3H1):c.1170+15A>G
NM_022356.4(P3H1):c.1170+18A>T rs2124124471
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
NM_022356.4(P3H1):c.1175C>T (p.Ser392Leu)
NM_022356.4(P3H1):c.1223+9C>T rs768165212
NM_022356.4(P3H1):c.1243G>T (p.Val415Leu)
NM_022356.4(P3H1):c.1256A>G (p.Gln419Arg)
NM_022356.4(P3H1):c.1281A>T (p.Glu427Asp)
NM_022356.4(P3H1):c.1325T>C (p.Val442Ala) rs1308933452
NM_022356.4(P3H1):c.1342G>A (p.Glu448Lys)
NM_022356.4(P3H1):c.1346G>A (p.Gly449Asp)
NM_022356.4(P3H1):c.1391A>G (p.Lys464Arg)
NM_022356.4(P3H1):c.1406C>T (p.Ser469Phe) rs2124110566
NM_022356.4(P3H1):c.1411C>G (p.Arg471Gly) rs147230023
NM_022356.4(P3H1):c.1412G>A (p.Arg471Gln) rs377645905
NM_022356.4(P3H1):c.1417G>A (p.Val473Met)
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser) rs761570342
NM_022356.4(P3H1):c.1448G>A (p.Cys483Tyr)
NM_022356.4(P3H1):c.1473+3A>G rs1652167519
NM_022356.4(P3H1):c.1473+4A>G
NM_022356.4(P3H1):c.1473T>C (p.Asn491=)
NM_022356.4(P3H1):c.1511C>T (p.Thr504Ile) rs2124108863
NM_022356.4(P3H1):c.1523C>G (p.Thr508Ser) rs759787229
NM_022356.4(P3H1):c.1526C>A (p.Pro509His)
NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr) rs149894086
NM_022356.4(P3H1):c.1541A>G (p.Tyr514Cys) rs1011790349
NM_022356.4(P3H1):c.1604C>T (p.Ala535Val) rs1651963746
NM_022356.4(P3H1):c.1610T>C (p.Leu537Pro) rs2124094046
NM_022356.4(P3H1):c.1618_1620del (p.Asn540del) rs1557562500
NM_022356.4(P3H1):c.1621G>A (p.Val541Met) rs369552220
NM_022356.4(P3H1):c.1621G>C (p.Val541Leu)
NM_022356.4(P3H1):c.1627G>A (p.Glu543Lys) rs1651960578
NM_022356.4(P3H1):c.163G>A (p.Val55Ile) rs2124175927
NM_022356.4(P3H1):c.1661G>T (p.Arg554Leu) rs376337637
NM_022356.4(P3H1):c.1685C>G (p.Ser562Cys) rs1651954957
NM_022356.4(P3H1):c.1709C>T (p.Thr570Ile)
NM_022356.4(P3H1):c.1720+3G>A
NM_022356.4(P3H1):c.1721-5C>A rs1430349543
NM_022356.4(P3H1):c.1722G>C (p.Glu574Asp) rs1651848301
NM_022356.4(P3H1):c.1793T>G (p.Leu598Arg) rs2124082697
NM_022356.4(P3H1):c.1795G>C (p.Val599Leu) rs140254470
NM_022356.4(P3H1):c.1795G>T (p.Val599Leu) rs140254470
NM_022356.4(P3H1):c.1829G>T (p.Arg610Leu)
NM_022356.4(P3H1):c.1840G>A (p.Ala614Thr) rs868224632
NM_022356.4(P3H1):c.1840G>T (p.Ala614Ser) rs868224632
NM_022356.4(P3H1):c.1914+5G>C rs1570454763
NM_022356.4(P3H1):c.1914G>A (p.Thr638=) rs765091931
NM_022356.4(P3H1):c.1931A>C (p.Gln644Pro) rs2124077511
NM_022356.4(P3H1):c.1945G>C (p.Val649Leu) rs775492271
NM_022356.4(P3H1):c.1972C>A (p.Pro658Thr) rs1570453990
NM_022356.4(P3H1):c.1988C>G (p.Ala663Gly) rs1651782504
NM_022356.4(P3H1):c.1996A>G (p.Arg666Gly) rs1477470732
NM_022356.4(P3H1):c.1998G>C (p.Arg666Ser)
NM_022356.4(P3H1):c.2001G>C (p.Gly667=) rs2124076813
NM_022356.4(P3H1):c.200C>G (p.Ala67Gly) rs757325811
NM_022356.4(P3H1):c.2017G>A (p.Ala673Thr) rs192750565
NM_022356.4(P3H1):c.2017G>T (p.Ala673Ser)
NM_022356.4(P3H1):c.2024G>T (p.Trp675Leu) rs1226770904
NM_022356.4(P3H1):c.2054G>T (p.Arg685Leu)
NM_022356.4(P3H1):c.2056-5T>A
NM_022356.4(P3H1):c.2073T>A (p.Asp691Glu) rs764716982
NM_022356.4(P3H1):c.208_216dup (p.Arg72_Leu73insAlaLeuArg)
NM_022356.4(P3H1):c.2108T>C (p.Met703Thr) rs915416583
NM_022356.4(P3H1):c.2124G>C (p.Glu708Asp)
NM_022356.4(P3H1):c.2135A>T (p.Asp712Val)
NM_022356.4(P3H1):c.2146G>C (p.Gly716Arg) rs1295977850
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.2181C>T (p.Gly727=) rs2124072049
NM_022356.4(P3H1):c.2209T>C (p.Ter737Arg)
NM_022356.4(P3H1):c.235T>C (p.Cys79Arg)
NM_022356.4(P3H1):c.239C>T (p.Ala80Val) rs1356821838
NM_022356.4(P3H1):c.272G>C (p.Trp91Ser) rs2124175198
NM_022356.4(P3H1):c.278C>T (p.Pro93Leu) rs2124175148
NM_022356.4(P3H1):c.308C>T (p.Ala103Val)
NM_022356.4(P3H1):c.310del (p.Leu104fs) rs1653018691
NM_022356.4(P3H1):c.32C>T (p.Thr11Ile) rs1570487789
NM_022356.4(P3H1):c.331G>C (p.Gly111Arg) rs1557580485
NM_022356.4(P3H1):c.332G>A (p.Gly111Glu) rs763732280
NM_022356.4(P3H1):c.337C>G (p.Leu113Val) rs965203707
NM_022356.4(P3H1):c.343C>T (p.Arg115Cys) rs1653015841
NM_022356.4(P3H1):c.395T>C (p.Leu132Pro) rs951159895
NM_022356.4(P3H1):c.399C>A (p.Ser133Arg) rs1557580282
NM_022356.4(P3H1):c.41C>G (p.Ala14Gly)
NM_022356.4(P3H1):c.420C>G (p.Phe140Leu) rs1027100537
NM_022356.4(P3H1):c.466A>G (p.Ile156Val) rs751518628
NM_022356.4(P3H1):c.527A>T (p.His176Leu)
NM_022356.4(P3H1):c.530T>C (p.Met177Thr)
NM_022356.4(P3H1):c.586G>A (p.Asp196Asn)
NM_022356.4(P3H1):c.589T>C (p.Phe197Leu)
NM_022356.4(P3H1):c.617T>C (p.Met206Thr)
NM_022356.4(P3H1):c.62A>G (p.Gln21Arg)
NM_022356.4(P3H1):c.641_643del (p.Arg214del) rs2124143063
NM_022356.4(P3H1):c.643C>T (p.Leu215Phe) rs1652579090
NM_022356.4(P3H1):c.674T>C (p.Val225Ala) rs1557573602
NM_022356.4(P3H1):c.691G>A (p.Ala231Thr) rs2124142756
NM_022356.4(P3H1):c.69G>C (p.Glu23Asp) rs1237398609
NM_022356.4(P3H1):c.728G>C (p.Arg243Pro)
NM_022356.4(P3H1):c.730G>A (p.Ala244Thr)
NM_022356.4(P3H1):c.751_765dup (p.Asp251_Tyr255dup) rs1652568948
NM_022356.4(P3H1):c.781A>G (p.Asn261Asp)
NM_022356.4(P3H1):c.808+4C>T
NM_022356.4(P3H1):c.808+5G>A rs368972030
NM_022356.4(P3H1):c.808+5G>T
NM_022356.4(P3H1):c.808+6T>C
NM_022356.4(P3H1):c.815A>T (p.Tyr272Phe) rs1652552999
NM_022356.4(P3H1):c.881A>C (p.Lys294Thr)
NM_022356.4(P3H1):c.895T>C (p.Phe299Leu)
NM_022356.4(P3H1):c.905C>T (p.Ser302Leu) rs772625904
NM_022356.4(P3H1):c.941-3C>T
NM_022356.4(P3H1):c.950A>T (p.Tyr317Phe)
NM_022356.4(P3H1):c.957G>C (p.Gln319His) rs2124135719
NM_022356.4(P3H1):c.961G>A (p.Val321Ile) rs866278783
NM_022356.4(P3H1):c.971C>T (p.Ala324Val)
NM_022356.4(P3H1):c.988T>G (p.Phe330Val)
NM_022458.4(LMBR1):c.*1259C>T rs1180240267
NM_022458.4(LMBR1):c.*1347A>G rs1805281351
NM_022458.4(LMBR1):c.*1534A>G rs886062114
NM_022458.4(LMBR1):c.*166G>T rs886062119
NM_022458.4(LMBR1):c.*1862T>A rs886062113
NM_022458.4(LMBR1):c.*2080C>T rs970281844
NM_022458.4(LMBR1):c.*2451C>A rs1351176342
NM_022458.4(LMBR1):c.*2458A>G rs1805049784
NM_022458.4(LMBR1):c.*2519T>A rs772161675
NM_022458.4(LMBR1):c.*2744G>T rs886062112
NM_022458.4(LMBR1):c.*2771G>A rs756411300
NM_022458.4(LMBR1):c.*2773G>T rs886062111
NM_022458.4(LMBR1):c.*2899A>T rs748449219
NM_022458.4(LMBR1):c.*2948G>T rs777769323
NM_022458.4(LMBR1):c.*650A>G rs886062117
NM_022458.4(LMBR1):c.*916C>A rs182736380
NM_022458.4(LMBR1):c.-146C>T rs751044177
NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val) rs886062120
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) rs886062121
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) rs756376000
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) rs1816107259
NM_022725.4(FANCF):c.*1338dup rs45554234
NM_022725.4(FANCF):c.*1509G>C rs886048153
NM_022725.4(FANCF):c.*1525T>G rs886048152
NM_022725.4(FANCF):c.*1696G>A rs886048149
NM_022725.4(FANCF):c.*286A>G rs1858607148
NM_022725.4(FANCF):c.*287C>T rs886048156
NM_022725.4(FANCF):c.*539T>A rs1858602761
NM_022725.4(FANCF):c.*624G>C rs768178918
NM_022725.4(FANCF):c.*650ATTAA[1] rs886048154
NM_022725.4(FANCF):c.*695dup rs796646840
NM_022725.4(FANCF):c.*857G>A rs964945469
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val) rs772941983
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn) rs886048157
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly) rs2133796304
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter) rs587778343
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp) rs2133798660
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys) rs1858614312
NM_022725.4(FANCF):c.1064G>A (p.Arg355His) rs758175326
NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg) rs2133796173
NM_022725.4(FANCF):c.1089A>C (p.Gln363His) rs1858613638
NM_022725.4(FANCF):c.10C>T (p.Leu4Phe)
NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln)
NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys) rs1359473267
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)
NM_022725.4(FANCF):c.136C>G (p.Arg46Gly) rs758925111
NM_022725.4(FANCF):c.137G>A (p.Arg46Gln)
NM_022725.4(FANCF):c.139C>T (p.Arg47Cys)
NM_022725.4(FANCF):c.140_141delinsTT (p.Arg47Leu)
NM_022725.4(FANCF):c.160A>G (p.Ile54Val) rs2133798534
NM_022725.4(FANCF):c.164G>A (p.Arg55His)
NM_022725.4(FANCF):c.175G>C (p.Glu59Gln)
NM_022725.4(FANCF):c.191A>G (p.Asn64Ser) rs756433846
NM_022725.4(FANCF):c.192C>A (p.Asn64Lys) rs1413335884
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro)
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser) rs1590542146
NM_022725.4(FANCF):c.214T>G (p.Phe72Val)
NM_022725.4(FANCF):c.221G>A (p.Arg74Gln) rs1858634295
NM_022725.4(FANCF):c.223G>T (p.Gly75Cys) rs958516903
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr)
NM_022725.4(FANCF):c.260G>T (p.Gly87Val)
NM_022725.4(FANCF):c.261_263del (p.His88del) rs886048158
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly) rs746415789
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys)
NM_022725.4(FANCF):c.281C>T (p.Ser94Phe) rs1454810693
NM_022725.4(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.4(FANCF):c.301C>G (p.Arg101Gly) rs760571335
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro) rs1565055434
NM_022725.4(FANCF):c.322C>T (p.Arg108Cys) rs200995539
NM_022725.4(FANCF):c.325T>C (p.Tyr109His) rs2133798077
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) rs372625322
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser)
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys) rs1060501871
NM_022725.4(FANCF):c.353G>T (p.Gly118Val) rs200874455
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp)
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser) rs201357673
NM_022725.4(FANCF):c.385C>A (p.Leu129Ile)
NM_022725.4(FANCF):c.388C>A (p.Gln130Lys)
NM_022725.4(FANCF):c.388C>G (p.Gln130Glu)
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)
NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser) rs565372884
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln) rs868692458
NM_022725.4(FANCF):c.433A>G (p.Met145Val) rs766160698
NM_022725.4(FANCF):c.434T>G (p.Met145Arg)
NM_022725.4(FANCF):c.445A>G (p.Asn149Asp)
NM_022725.4(FANCF):c.447T>C (p.Asn149=)
NM_022725.4(FANCF):c.448G>C (p.Gly150Arg)
NM_022725.4(FANCF):c.449G>A (p.Gly150Asp)
NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn) rs984455929
NM_022725.4(FANCF):c.457G>A (p.Glu153Lys) rs748768759
NM_022725.4(FANCF):c.462C>A (p.Asn154Lys)
NM_022725.4(FANCF):c.473A>G (p.Gln158Arg)
NM_022725.4(FANCF):c.477G>A (p.Glu159=)
NM_022725.4(FANCF):c.482C>G (p.Ser161Cys)
NM_022725.4(FANCF):c.484C>G (p.Leu162Val) rs2133797641
NM_022725.4(FANCF):c.489G>C (p.Met163Ile) rs1590541541
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile)
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
NM_022725.4(FANCF):c.49G>A (p.Val17Ile)
NM_022725.4(FANCF):c.49G>T (p.Val17Phe) rs758897077
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln)
NM_022725.4(FANCF):c.50T>C (p.Val17Ala)
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)
NM_022725.4(FANCF):c.544G>A (p.Ala182Thr) rs1858626528
NM_022725.4(FANCF):c.547G>A (p.Glu183Lys) rs774728053
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln) rs774728053
NM_022725.4(FANCF):c.54A>G (p.Ser18=)
NM_022725.4(FANCF):c.551G>C (p.Arg184Pro)
NM_022725.4(FANCF):c.552_554inv (p.Pro185Asp)
NM_022725.4(FANCF):c.553C>T (p.Pro185Ser)
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly) rs1274843959
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys) rs1231820160
NM_022725.4(FANCF):c.606G>T (p.Leu202=)
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr) rs764300983
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)
NM_022725.4(FANCF):c.623C>T (p.Ala208Val)
NM_022725.4(FANCF):c.626T>C (p.Leu209Pro) rs1554963662
NM_022725.4(FANCF):c.628T>C (p.Leu210=)
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser) rs765672591
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln) rs1590541259
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg) rs1230568893
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys) rs1590542501
NM_022725.4(FANCF):c.668A>C (p.Glu223Ala)
NM_022725.4(FANCF):c.670C>A (p.Pro224Thr) rs767765820
NM_022725.4(FANCF):c.683A>C (p.Lys228Thr)
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg) rs766802308
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser) rs773724648
NM_022725.4(FANCF):c.689C>G (p.Pro230Arg) rs762305649
NM_022725.4(FANCF):c.692G>A (p.Gly231Glu) rs1858622610
NM_022725.4(FANCF):c.696G>C (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.696G>T (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly) rs1858638724
NM_022725.4(FANCF):c.70A>T (p.Ser24Cys) rs1858638724
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)
NM_022725.4(FANCF):c.763C>G (p.Leu255Val)
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)
NM_022725.4(FANCF):c.78G>C (p.Trp26Cys) rs764519472
NM_022725.4(FANCF):c.790A>T (p.Thr264Ser) rs1663559839
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg) rs758796858
NM_022725.4(FANCF):c.799C>T (p.His267Tyr)
NM_022725.4(FANCF):c.801C>A (p.His267Gln) rs762356967
NM_022725.4(FANCF):c.80A>C (p.Asp27Ala)
NM_022725.4(FANCF):c.814C>T (p.Pro272Ser)
NM_022725.4(FANCF):c.817G>C (p.Val273Leu) rs1858619819
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser) rs144524228
NM_022725.4(FANCF):c.821A>G (p.Tyr274Cys) rs144524228
NM_022725.4(FANCF):c.829C>G (p.Leu277Val)
NM_022725.4(FANCF):c.838G>A (p.Asp280Asn)
NM_022725.4(FANCF):c.838G>T (p.Asp280Tyr)
NM_022725.4(FANCF):c.841T>C (p.Trp281Arg)
NM_022725.4(FANCF):c.845G>A (p.Gly282Asp) rs2133796678
NM_022725.4(FANCF):c.851G>C (p.Arg284Pro)
NM_022725.4(FANCF):c.857A>C (p.His286Pro)
NM_022725.4(FANCF):c.857A>G (p.His286Arg) rs368940253
NM_022725.4(FANCF):c.85G>C (p.Ala29Pro)
NM_022725.4(FANCF):c.866T>C (p.Leu289Pro) rs1177443868
NM_022725.4(FANCF):c.869A>C (p.Gln290Pro) rs2133796621
NM_022725.4(FANCF):c.886G>T (p.Gly296Ter)
NM_022725.4(FANCF):c.889A>G (p.Thr297Ala) rs1060501872
NM_022725.4(FANCF):c.88A>G (p.Thr30Ala)
NM_022725.4(FANCF):c.899A>G (p.Gln300Arg) rs915379462
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser) rs370347668
NM_022725.4(FANCF):c.921G>T (p.Leu307Phe) rs1205605542
NM_022725.4(FANCF):c.923A>G (p.His308Arg) rs1590540697
NM_022725.4(FANCF):c.924C>A (p.His308Gln)
NM_022725.4(FANCF):c.940C>T (p.Leu314Phe) rs1858617232
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser) rs746120363
NM_022725.4(FANCF):c.95G>A (p.Arg32His)
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup) rs1554963731
NM_022725.4(FANCF):c.98G>A (p.Arg33Gln) rs2133798673
NM_022725.4(FANCF):c.98G>C (p.Arg33Pro)
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile) rs1250903119
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)
NM_023110.3(FGFR1):c.*1124C>G rs561923573
NM_023110.3(FGFR1):c.*1144G>A rs886062911
NM_023110.3(FGFR1):c.*118C>T rs886062916
NM_023110.3(FGFR1):c.*1218T>C rs886062910
NM_023110.3(FGFR1):c.*1616T>G rs886062908
NM_023110.3(FGFR1):c.*1676G>A rs763761019
NM_023110.3(FGFR1):c.*1723C>T rs1200256665
NM_023110.3(FGFR1):c.*1823G>A rs1814497706
NM_023110.3(FGFR1):c.*212G>A rs1815042970
NM_023110.3(FGFR1):c.*231C>T rs1815036929
NM_023110.3(FGFR1):c.*313T>C rs886062915
NM_023110.3(FGFR1):c.*313T>G rs886062915
NM_023110.3(FGFR1):c.*71A>G rs886062917
NM_023110.3(FGFR1):c.*819T>G rs1814814648
NM_023110.3(FGFR1):c.*845T>C rs886062913
NM_023110.3(FGFR1):c.*958G>A rs537880800
NM_023110.3(FGFR1):c.-116C>T rs1835923576
NM_023110.3(FGFR1):c.-117C>G rs994485282
NM_023110.3(FGFR1):c.-278C>A rs1835944475
NM_023110.3(FGFR1):c.-413G>A rs984098100
NM_023110.3(FGFR1):c.-434G>A rs941457992
NM_023110.3(FGFR1):c.-466C>T rs1835975713
NM_023110.3(FGFR1):c.-522G>T rs1208796305
NM_023110.3(FGFR1):c.-552C>G rs1835988153
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met) rs1064793123
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr) rs2150966948
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=) rs1338926241
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val) rs376921992
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys) rs1817962450
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg) rs2150706408
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg) rs1232639613
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) rs1817948350
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu) rs758138124
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe) rs2150675272
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His) rs121909637
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
NM_023110.3(FGFR1):c.1430+4A>G
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.3(FGFR1):c.1552+5G>A
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr) rs2150964150
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg) rs760702592
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val) rs2150591908
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg) rs531903077
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) rs1816417552
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp) rs1162148796
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr) rs2150585866
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del) rs1387712427
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
NM_023110.3(FGFR1):c.1854+15_1854+31del
NM_023110.3(FGFR1):c.1854+17C>G
NM_023110.3(FGFR1):c.1854+7A>T
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln) rs1815818452
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu) rs2150563316
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val) rs1815800575
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe) rs2150549553
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) rs267606806
NM_023110.3(FGFR1):c.2187-13A>G
NM_023110.3(FGFR1):c.2193G>A (p.Met731Ile)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro) rs755160898
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn) rs759376422
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
NM_023110.3(FGFR1):c.256G>A (p.Val86Met) rs1404670039
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His) rs1822219907
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser) rs2150955298
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del) rs1328266877
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val) rs1161536828
NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn) rs1821566729
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
NM_023110.3(FGFR1):c.449-4dup
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro) rs1033377277
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu) rs1413642890
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg) rs2150912609
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
NM_023110.3(FGFR1):c.621+5G>A
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn) rs1833133571
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
NM_023110.3(FGFR1):c.92-19G>A rs753723806
NM_023110.3(FGFR1):c.92-3C>T rs1822349929
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)
NM_024675.4(PALB2):c.-108C>A rs180177140
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu) rs144944814
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser) rs876660876
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) rs786204243
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys) rs1567221497
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro) rs367578415
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) rs1060502757
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu) rs776294034
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu) rs1555461334
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg) rs867817029
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro) rs577969558
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn) rs75023630
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro) rs869025294
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser) rs1555461232
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala) rs1060502741
NM_024675.4(PALB2):c.1684+11A>G rs201368043
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys) rs876659354
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg) rs1555460644
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu) rs1567218668
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr) rs876659058
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala) rs876659058
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) rs71379822
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile) rs1567218311
NM_024675.4(PALB2):c.205C>T (p.His69Tyr) rs879253891
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys) rs770145849
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu) rs1966858909
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly) rs1060502779
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg) rs1060502794
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr) rs925044785
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg) rs746117401
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly) rs745747228
NM_024675.4(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys) rs1567216902
NM_024675.4(PALB2):c.2667T>A (p.Thr889=) rs876659224
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val) rs730881890
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala) rs1555459734
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu) rs1555459732
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile) rs1597082795
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly) rs769009609
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys) rs1567214295
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe) rs876659160
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly) rs375942535
NM_024675.4(PALB2):c.2996+14T>G rs1407045774
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile) rs876659643
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val) rs1567212950
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe) rs863224783
NM_024675.4(PALB2):c.3202-13T>C
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro) rs863224785
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe) rs1555458226
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) rs781049663
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val) rs1057523330
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met) rs142132127
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg) rs911734555
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu) rs772480747
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met) rs757118000
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=) rs1966403904
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly) rs62625283
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro) rs62625284
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr) rs1251150895
NM_024675.4(PALB2):c.388C>T (p.His130Tyr) rs1555461809
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys) rs2142443443
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) rs1060502796
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr) rs587780220
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.637G>C (p.Val213Leu) rs786203875
NM_024675.4(PALB2):c.66A>G (p.Ala22=) rs1057520982
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly) rs779278389
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro) rs886051831
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg) rs1597098293
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.4(PALB2):c.968C>T (p.Ala323Val) rs730881882
NM_025132.3(WDR19):c.-59dup rs558898928
NM_025132.4(WDR19):c.*124T>G rs1737119800
NM_025132.4(WDR19):c.*184T>G rs886059405
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.*83G>C rs111976533
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1293C>T (p.Ala431=) rs886059397
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.171T>C (p.Cys57=) rs1483597668
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.198A>T (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys) rs1730954326
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu) rs1375996391
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro) rs1057523257
NM_025132.4(WDR19):c.3358+15C>T rs750722358
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) rs886059402
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.750A>T (p.Ser250=) rs886059395
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.98+5G>T
NM_025132.4(WDR19):c.[291-21A>G];[542C>G]
NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser) rs771289643
NM_031263.4(HNRNPK):c.1191+3A>T
NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg)
NM_031263.4(HNRNPK):c.1225C>T (p.Arg409Trp) rs750307456
NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys) rs2133014344
NM_031263.4(HNRNPK):c.1361+7T>G
NM_031263.4(HNRNPK):c.203T>C (p.Leu68Pro) rs1588432187
NM_031263.4(HNRNPK):c.214-6A>G
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.455A>T (p.His152Leu)
NM_031263.4(HNRNPK):c.560A>G (p.His187Arg) rs1588420417
NM_031263.4(HNRNPK):c.709G>A (p.Gly237Ser)
NM_031263.4(HNRNPK):c.779G>A (p.Gly260Asp) rs757092061
NM_031296.2(RAB33B):c.-348G>C rs886059072
NM_031296.2(RAB33B):c.-368C>T rs886059071
NM_031296.3(RAB33B):c.*1157T>G rs141155369
NM_031296.3(RAB33B):c.*118T>G rs886059077
NM_031296.3(RAB33B):c.*1235G>A rs1750460236
NM_031296.3(RAB33B):c.*1455A>G rs1750463892
NM_031296.3(RAB33B):c.*1925A>G rs1750475544
NM_031296.3(RAB33B):c.*1976A>G rs886059083
NM_031296.3(RAB33B):c.*1994T>A rs886059084
NM_031296.3(RAB33B):c.*1A>G rs1750422873
NM_031296.3(RAB33B):c.*2271A>C rs1750482331
NM_031296.3(RAB33B):c.*2522A>C rs1028103416
NM_031296.3(RAB33B):c.*2599A>G rs886059085
NM_031296.3(RAB33B):c.*776C>T rs77490600
NM_031296.3(RAB33B):c.*796_*797del rs10604111
NM_031296.3(RAB33B):c.*924G>A rs1044833370
NM_031296.3(RAB33B):c.133G>A (p.Gly45Ser)
NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala) rs2111067573
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031296.3(RAB33B):c.600G>A (p.Lys200=) rs1750420600
NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr) rs2111088217
NM_032043.2(BRIP1):c.1474-7C>A rs886041146
NM_032043.2(BRIP1):c.1780_1781inv (p.Leu594Lys)
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle) rs1555572724
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs) rs1555572516
NM_032043.3(BRIP1):c.*1048_*1050del rs564290244
NM_032043.3(BRIP1):c.*1255AG[1] rs886053209
NM_032043.3(BRIP1):c.*1381G>T rs886053208
NM_032043.3(BRIP1):c.*1409T>A rs554933640
NM_032043.3(BRIP1):c.*1801T>G rs1479468180
NM_032043.3(BRIP1):c.*1930G>C rs2061267341
NM_032043.3(BRIP1):c.*2672G>A rs924486012
NM_032043.3(BRIP1):c.*2715C>T rs886053203
NM_032043.3(BRIP1):c.*2744A>G rs1311178838
NM_032043.3(BRIP1):c.*2756G>A rs182264505
NM_032043.3(BRIP1):c.*2811_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2812_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.3(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.3(BRIP1):c.*2868A>G rs1044791743
NM_032043.3(BRIP1):c.*288A>G rs886053213
NM_032043.3(BRIP1):c.*2926T>A rs886053201
NM_032043.3(BRIP1):c.*3093A>T rs944576811
NM_032043.3(BRIP1):c.*3145A>G rs886053200
NM_032043.3(BRIP1):c.*3821A>G rs886053197
NM_032043.3(BRIP1):c.*3918C>T rs886053196
NM_032043.3(BRIP1):c.*394CT[1] rs546666211
NM_032043.3(BRIP1):c.*421C>T rs886053211
NM_032043.3(BRIP1):c.*612A>G rs2061285626
NM_032043.3(BRIP1):c.*684C>A rs2061284724
NM_032043.3(BRIP1):c.-232G>A rs2078998991
NM_032043.3(BRIP1):c.-38C>T rs371225829
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val) rs1365389773
NM_032043.3(BRIP1):c.1009A>T (p.Ile337Leu)
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly) rs2145852980
NM_032043.3(BRIP1):c.1010T>C (p.Ile337Thr) rs2077990704
NM_032043.3(BRIP1):c.1012G>A (p.Glu338Lys) rs777653224
NM_032043.3(BRIP1):c.1012G>C (p.Glu338Gln)
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.3(BRIP1):c.1015G>A (p.Glu339Lys) rs2145337853
NM_032043.3(BRIP1):c.1019T>C (p.Leu340Pro)
NM_032043.3(BRIP1):c.1021G>A (p.Val341Ile) rs863224797
NM_032043.3(BRIP1):c.1022T>G (p.Val341Gly) rs2145337483
NM_032043.3(BRIP1):c.1024A>C (p.Ser342Arg) rs1603343284
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro) rs1414803437
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg) rs1555607734
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu) rs751841684
NM_032043.3(BRIP1):c.1032GAA[1] (p.Lys346del) rs2145336622
NM_032043.3(BRIP1):c.1034A>C (p.Lys345Thr) rs2077989830
NM_032043.3(BRIP1):c.1034A>G (p.Lys345Arg) rs2077989830
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr) rs149364097
NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser) rs149364097
NM_032043.3(BRIP1):c.1046C>T (p.Ala349Val) rs1184306036
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg) rs876658173
NM_032043.3(BRIP1):c.1048T>G (p.Cys350Gly) rs876658173
NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr)
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser) rs2077989056
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala) rs2145335496
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.3(BRIP1):c.1067G>A (p.Arg356Gln) rs1289648562
NM_032043.3(BRIP1):c.1069G>A (p.Glu357Lys) rs769081927
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile) rs775191379
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr) rs2145334735
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser) rs1060501767
NM_032043.3(BRIP1):c.1081G>A (p.Asp361Asn) rs1060501737
NM_032043.3(BRIP1):c.1081G>T (p.Asp361Tyr) rs1060501737
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe) rs774586397
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val) rs770306753
NM_032043.3(BRIP1):c.1091T>C (p.Ile364Thr) rs2077987772
NM_032043.3(BRIP1):c.1093A>C (p.Ile365Leu) rs749251680
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val) rs749251680
NM_032043.3(BRIP1):c.1098T>G (p.Phe366Leu)
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg) rs1567831592
NM_032043.3(BRIP1):c.1102C>T (p.Pro368Ser) rs1555607669
NM_032043.3(BRIP1):c.1103C>T (p.Pro368Leu)
NM_032043.3(BRIP1):c.1106A>C (p.Tyr369Ser) rs786202218
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser) rs876659105
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys) rs1060501768
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile) rs786202637
NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)
NM_032043.3(BRIP1):c.1122T>A (p.Asp374Glu)
NM_032043.3(BRIP1):c.1123G>A (p.Ala375Thr) rs878855135
NM_032043.3(BRIP1):c.1124C>T (p.Ala375Val) rs786202192
NM_032043.3(BRIP1):c.1129A>G (p.Ile377Val) rs876659688
NM_032043.3(BRIP1):c.112A>G (p.Ser38Gly) rs2145852551
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1133G>A (p.Arg378Lys) rs1555607637
NM_032043.3(BRIP1):c.1136A>G (p.Glu379Gly) rs1555607635
NM_032043.3(BRIP1):c.1138A>G (p.Ser380Gly) rs1555607633
NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn) rs569696977
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile) rs569696977
NM_032043.3(BRIP1):c.113G>A (p.Ser38Asn) rs1555618429
NM_032043.3(BRIP1):c.1140+3G>A rs1322162359
NM_032043.3(BRIP1):c.1140+3G>T rs1322162359
NM_032043.3(BRIP1):c.1140+4A>T rs2077985597
NM_032043.3(BRIP1):c.1140+7A>G rs1299846526
NM_032043.3(BRIP1):c.1141-3T>C rs773264592
NM_032043.3(BRIP1):c.1141-5T>A rs1060501760
NM_032043.3(BRIP1):c.1141-6T>A
NM_032043.3(BRIP1):c.1141-7_1141-3del rs1060501744
NM_032043.3(BRIP1):c.1142T>A (p.Met381Lys) rs1060501741
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr) rs1060501741
NM_032043.3(BRIP1):c.1144G>A (p.Asp382Asn) rs1452168198
NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr)
NM_032043.3(BRIP1):c.1147T>G (p.Leu383Val) rs1603342360
NM_032043.3(BRIP1):c.114C>A (p.Ser38Arg) rs2078951392
NM_032043.3(BRIP1):c.1150A>T (p.Asn384Tyr) rs1603342354
NM_032043.3(BRIP1):c.1151A>G (p.Asn384Ser) rs1060501750
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu) rs730881635
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys) rs1555607230
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del) rs2145309517
NM_032043.3(BRIP1):c.1164G>T (p.Gln388His) rs1603342334
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile) rs587780825
NM_032043.3(BRIP1):c.1165G>C (p.Val389Leu) rs587780825
NM_032043.3(BRIP1):c.1165G>T (p.Val389Phe) rs587780825
NM_032043.3(BRIP1):c.1166T>C (p.Val389Ala) rs2145309289
NM_032043.3(BRIP1):c.1166T>G (p.Val389Gly)
NM_032043.3(BRIP1):c.1168G>A (p.Val390Ile) rs781168634
NM_032043.3(BRIP1):c.1168G>T (p.Val390Phe) rs781168634
NM_032043.3(BRIP1):c.1173T>G (p.Ile391Met) rs1427603031
NM_032043.3(BRIP1):c.1177G>C (p.Asp393His) rs1555607200
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln) rs2077952602
NM_032043.3(BRIP1):c.1183G>A (p.Ala395Thr) rs2077952484
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val) rs778992385
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His) rs587782039
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
NM_032043.3(BRIP1):c.1193T>G (p.Ile398Ser) rs2145307952
NM_032043.3(BRIP1):c.1195G>C (p.Glu399Gln) rs587782816
NM_032043.3(BRIP1):c.1197G>C (p.Glu399Asp) rs1567829526
NM_032043.3(BRIP1):c.119A>C (p.Gln40Pro) rs2078951315
NM_032043.3(BRIP1):c.11T>C (p.Met4Thr) rs2078973570
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg) rs756636362
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val) rs876659282
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly) rs369631413
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly) rs1555607156
NM_032043.3(BRIP1):c.121C>T (p.His41Tyr) rs770930270
NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg) rs2077950726
NM_032043.3(BRIP1):c.1225A>G (p.Ser409Gly)
NM_032043.3(BRIP1):c.1226G>A (p.Ser409Asn) rs587782247
NM_032043.3(BRIP1):c.1226G>C (p.Ser409Thr) rs587782247
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile) rs2145305888
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu) rs2145305445
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala) rs45576134
NM_032043.3(BRIP1):c.1242G>C (p.Gln414His) rs1257200897
NM_032043.3(BRIP1):c.1247G>T (p.Arg416Leu)
NM_032043.3(BRIP1):c.124T>C (p.Cys42Arg) rs1567877037
NM_032043.3(BRIP1):c.124T>G (p.Cys42Gly) rs1567877037
NM_032043.3(BRIP1):c.1250T>A (p.Phe417Tyr)
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu) rs2077949494
NM_032043.3(BRIP1):c.1252G>A (p.Ala418Thr)
NM_032043.3(BRIP1):c.1252G>T (p.Ala418Ser) rs1567829310
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly) rs150624408
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
NM_032043.3(BRIP1):c.1258G>A (p.Asp420Asn) rs2077949084
NM_032043.3(BRIP1):c.125G>T (p.Cys42Phe) rs1555618423
NM_032043.3(BRIP1):c.1261G>A (p.Glu421Lys) rs2077949016
NM_032043.3(BRIP1):c.1262A>T (p.Glu421Val) rs2077948964
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
NM_032043.3(BRIP1):c.1270A>C (p.Ser424Arg) rs1028779004
NM_032043.3(BRIP1):c.1270A>G (p.Ser424Gly) rs1028779004
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn) rs1354610577
NM_032043.3(BRIP1):c.1273A>G (p.Met425Val) rs1567829230
NM_032043.3(BRIP1):c.1274T>C (p.Met425Thr)
NM_032043.3(BRIP1):c.1275G>A (p.Met425Ile) rs1555607086
NM_032043.3(BRIP1):c.1280A>G (p.Asn427Ser) rs1466605276
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr) rs779237423
NM_032043.3(BRIP1):c.1285A>C (p.Asn429His)
NM_032043.3(BRIP1):c.1285A>G (p.Asn429Asp) rs1555607082
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val) rs1567829158
NM_032043.3(BRIP1):c.1288A>T (p.Ile430Leu) rs1567829158
NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys)
NM_032043.3(BRIP1):c.1289T>C (p.Ile430Thr) rs1555607077
NM_032043.3(BRIP1):c.1291A>T (p.Arg431Trp)
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys) rs1328630889
NM_032043.3(BRIP1):c.129G>T (p.Leu43Phe) rs2145852056
NM_032043.3(BRIP1):c.12G>A (p.Met4Ile) rs1386396228
NM_032043.3(BRIP1):c.1301A>C (p.Asp434Ala) rs1567829117
NM_032043.3(BRIP1):c.1301A>G (p.Asp434Gly) rs1567829117
NM_032043.3(BRIP1):c.1301A>T (p.Asp434Val) rs1567829117
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln) rs1352266926
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala) rs878855137
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro) rs1555607056
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser) rs2145300568
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly) rs1458068665
NM_032043.3(BRIP1):c.1324T>C (p.Cys442Arg) rs1603342146
NM_032043.3(BRIP1):c.1324T>G (p.Cys442Gly)
NM_032043.3(BRIP1):c.1325G>C (p.Cys442Ser) rs1555607040
NM_032043.3(BRIP1):c.1327T>C (p.Cys443Arg)
NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr) rs1555607035
NM_032043.3(BRIP1):c.1329T>C (p.Cys443=) rs2145299845
NM_032043.3(BRIP1):c.1330A>G (p.Ser444Gly)
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_032043.3(BRIP1):c.1332C>A (p.Ser444Arg) rs200581792
NM_032043.3(BRIP1):c.1332C>G (p.Ser444Arg) rs200581792
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.3(BRIP1):c.1336A>G (p.Ile446Val) rs786203496
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr) rs1555607024
NM_032043.3(BRIP1):c.1339A>C (p.Asn447His) rs2077945752
NM_032043.3(BRIP1):c.133G>A (p.Glu45Lys) rs587781292
NM_032043.3(BRIP1):c.133G>C (p.Glu45Gln) rs587781292
NM_032043.3(BRIP1):c.1340+3A>C rs1060501770
NM_032043.3(BRIP1):c.1340+6A>T
NM_032043.3(BRIP1):c.1340+9A>G rs376487588
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr) rs1603342134
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1341-5T>C
NM_032043.3(BRIP1):c.1341-6T>G
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu) rs775171520
NM_032043.3(BRIP1):c.1348G>A (p.Glu450Lys) rs2077857156
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val) rs771861055
NM_032043.3(BRIP1):c.1354A>G (p.Asn452Asp) rs2077857017
NM_032043.3(BRIP1):c.1356C>G (p.Asn452Lys) rs730881640
NM_032043.3(BRIP1):c.1360G>A (p.Glu454Lys)
NM_032043.3(BRIP1):c.1361A>C (p.Glu454Ala) rs769918040
NM_032043.3(BRIP1):c.1362A>C (p.Glu454Asp) rs786202553
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His) rs587780826
NM_032043.3(BRIP1):c.1364A>G (p.Tyr455Cys) rs2077856391
NM_032043.3(BRIP1):c.1366C>A (p.Leu456Ile) rs1379791142
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
NM_032043.3(BRIP1):c.1367T>A (p.Leu456His) rs1555605947
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile) rs748221377
NM_032043.3(BRIP1):c.1369G>T (p.Val457Leu) rs748221377
NM_032043.3(BRIP1):c.1370T>G (p.Val457Gly) rs1369274888
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly) rs1555605942
NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp) rs2145243668
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser) rs780310294
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn) rs1567877002
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
NM_032043.3(BRIP1):c.1384G>C (p.Glu462Gln) rs1603340353
NM_032043.3(BRIP1):c.1387T>C (p.Ser463Pro) rs1555605920
NM_032043.3(BRIP1):c.1393T>A (p.Cys465Ser)
NM_032043.3(BRIP1):c.1399A>T (p.Ile467Leu)
NM_032043.3(BRIP1):c.139C>A (p.Pro47Thr) rs28903098
NM_032043.3(BRIP1):c.13T>G (p.Trp5Gly) rs2078973498
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met) rs764979728
NM_032043.3(BRIP1):c.1402T>C (p.Trp468Arg) rs1369814158
NM_032043.3(BRIP1):c.1405A>T (p.Ser469Cys) rs2077854841
NM_032043.3(BRIP1):c.1406G>A (p.Ser469Asn)
NM_032043.3(BRIP1):c.1408G>A (p.Gly470Arg) rs1603340339
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser) rs1555605906
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln) rs1555605902
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr) rs761452695
NM_032043.3(BRIP1):c.1433A>C (p.His478Pro) rs45501097
NM_032043.3(BRIP1):c.1434C>A (p.His478Gln) rs2077853857
NM_032043.3(BRIP1):c.1435A>G (p.Lys479Glu) rs2077853790
NM_032043.3(BRIP1):c.1436A>G (p.Lys479Arg)
NM_032043.3(BRIP1):c.1438A>G (p.Met480Val) rs1422020047
NM_032043.3(BRIP1):c.143C>G (p.Thr48Arg) rs755317452
NM_032043.3(BRIP1):c.143C>T (p.Thr48Ile) rs755317452
NM_032043.3(BRIP1):c.1440G>A (p.Met480Ile)
NM_032043.3(BRIP1):c.1440G>C (p.Met480Ile) rs1555605887
NM_032043.3(BRIP1):c.1441G>A (p.Gly481Ser) rs587780229
NM_032043.3(BRIP1):c.1442G>T (p.Gly481Val) rs200062099
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met) rs759360709
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser) rs1555605874
NM_032043.3(BRIP1):c.1451C>T (p.Thr484Ile) rs2145239872
NM_032043.3(BRIP1):c.1453G>A (p.Ala485Thr) rs2077853006
NM_032043.3(BRIP1):c.1453_1455del (p.Ala485del) rs2077852941
NM_032043.3(BRIP1):c.1454C>A (p.Ala485Asp)
NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala)
NM_032043.3(BRIP1):c.1457C>T (p.Thr486Ile) rs1603340296
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser) rs1450320184
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu) rs1237035767
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val) rs1555605855
NM_032043.3(BRIP1):c.1469T>C (p.Leu490Ser)
NM_032043.3(BRIP1):c.1469T>G (p.Leu490Trp) rs2077852333
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe) rs1567824994
NM_032043.3(BRIP1):c.1472A>G (p.Gln491Arg) rs1555605852
NM_032043.3(BRIP1):c.1472A>T (p.Gln491Leu) rs1555605852
NM_032043.3(BRIP1):c.1473+3A>T rs2077852092
NM_032043.3(BRIP1):c.1473+4_1473+8del rs730881650
NM_032043.3(BRIP1):c.1473G>C (p.Gln491His)
NM_032043.3(BRIP1):c.1474-10T>C rs1555603645
NM_032043.3(BRIP1):c.1474-11A>G rs1230175864
NM_032043.3(BRIP1):c.1474-5T>G
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg) rs2145142389
NM_032043.3(BRIP1):c.1475G>T (p.Gly492Val) rs2077672955
NM_032043.3(BRIP1):c.1477C>T (p.His493Tyr) rs1555603628
NM_032043.3(BRIP1):c.1478A>T (p.His493Leu) rs1555603626
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala) rs1555603617
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr) rs536081549
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val) rs1555603612
NM_032043.3(BRIP1):c.1489G>A (p.Val497Ile) rs876658725
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu) rs876658725
NM_032043.3(BRIP1):c.148A>G (p.Ser50Gly) rs2078950409
NM_032043.3(BRIP1):c.1492C>A (p.Leu498Ile) rs1603337024
NM_032043.3(BRIP1):c.1493T>A (p.Leu498His) rs1555603600
NM_032043.3(BRIP1):c.1496A>G (p.Gln499Arg)
NM_032043.3(BRIP1):c.1497A>G (p.Gln499=) rs1555603597
NM_032043.3(BRIP1):c.1498A>G (p.Lys500Glu) rs2077672083
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu) rs1555603594
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn) rs1443429619
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr) rs755306832
NM_032043.3(BRIP1):c.1512C>G (p.Ile504Met) rs876660478
NM_032043.3(BRIP1):c.1513T>C (p.Ser505Pro) rs1603337009
NM_032043.3(BRIP1):c.1514C>T (p.Ser505Leu) rs945661395
NM_032043.3(BRIP1):c.1516C>A (p.Pro506Thr) rs2077671245
NM_032043.3(BRIP1):c.1516C>T (p.Pro506Ser) rs2077671245
NM_032043.3(BRIP1):c.1517C>A (p.Pro506Gln) rs2077671171
NM_032043.3(BRIP1):c.1517C>T (p.Pro506Leu)
NM_032043.3(BRIP1):c.1519A>G (p.Ile507Val) rs1555603569
NM_032043.3(BRIP1):c.1522T>G (p.Tyr508Asp) rs2077671034
NM_032043.3(BRIP1):c.1523A>G (p.Tyr508Cys) rs1567817029
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp) rs1555603567
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu) rs1603336991
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
NM_032043.3(BRIP1):c.1545A>C (p.Glu515Asp) rs1567816977
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile) rs1567816972
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu) rs2077670264
NM_032043.3(BRIP1):c.1549C>T (p.Pro517Ser) rs1603336970
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu) rs786202169
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032043.3(BRIP1):c.1553T>A (p.Val518Asp) rs1555603541
NM_032043.3(BRIP1):c.1555A>T (p.Ile519Phe) rs2145137902
NM_032043.3(BRIP1):c.1556T>C (p.Ile519Thr) rs1555603538
NM_032043.3(BRIP1):c.1558A>G (p.Ser520Gly) rs2077669665
NM_032043.3(BRIP1):c.1559G>A (p.Ser520Asn) rs757629526
NM_032043.3(BRIP1):c.1561G>A (p.Ala521Thr) rs913184257
NM_032043.3(BRIP1):c.1562C>T (p.Ala521Val) rs2077669449
NM_032043.3(BRIP1):c.1564T>C (p.Ser522Pro) rs2077669404
NM_032043.3(BRIP1):c.1567A>G (p.Thr523Ala) rs1555603510
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn) rs1603367700
NM_032043.3(BRIP1):c.1571A>C (p.Gln524Pro) rs587781726
NM_032043.3(BRIP1):c.1571A>T (p.Gln524Leu)
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.3(BRIP1):c.1577T>A (p.Met526Lys)
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile) rs2077668951
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg) rs1603336934
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu) rs748962730
NM_032043.3(BRIP1):c.1585G>C (p.Gly529Arg) rs876659321
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe) rs1326418771
NM_032043.3(BRIP1):c.1589T>C (p.Leu530Pro) rs1603336923
NM_032043.3(BRIP1):c.158G>A (p.Ser53Asn) rs751182362
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile) rs786202417
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.3(BRIP1):c.1592T>C (p.Phe531Ser) rs878855139
NM_032043.3(BRIP1):c.1594A>T (p.Met532Leu)
NM_032043.3(BRIP1):c.1596G>A (p.Met532Ile) rs2145136186
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys) rs2078973424
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
NM_032043.3(BRIP1):c.1609C>G (p.Leu537Val) rs864622208
NM_032043.3(BRIP1):c.1610T>C (p.Leu537Pro) rs1567816751
NM_032043.3(BRIP1):c.1612T>C (p.Phe538Leu) rs1603336907
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1620A>G (p.Gln540=) rs2145135063
NM_032043.3(BRIP1):c.1623T>G (p.Asn541Lys) rs786203897
NM_032043.3(BRIP1):c.1626_1628del (p.Ser542del) rs1555603461
NM_032043.3(BRIP1):c.1628+4del
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1628+6T>C rs1567816699
NM_032043.3(BRIP1):c.1628+6T>G rs1567816699
NM_032043.3(BRIP1):c.1629-3T>G
NM_032043.3(BRIP1):c.1637A>G (p.Asp546Gly) rs2077612367
NM_032043.3(BRIP1):c.1639G>T (p.Asp547Tyr)
NM_032043.3(BRIP1):c.1640A>G (p.Asp547Gly) rs2077612324
NM_032043.3(BRIP1):c.1643A>C (p.Tyr548Ser) rs587782405
NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys) rs587782405
NM_032043.3(BRIP1):c.164C>T (p.Ala55Val) rs1603367684
NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro) rs766302517
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val) rs375246789
NM_032043.3(BRIP1):c.1654A>G (p.Ile552Val) rs1603334819
NM_032043.3(BRIP1):c.1659A>C (p.Gln553His) rs876660693
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
NM_032043.3(BRIP1):c.1662G>C (p.Gln554His) rs1060501749
NM_032043.3(BRIP1):c.1663A>G (p.Thr555Ala) rs2077611229
NM_032043.3(BRIP1):c.1666T>C (p.Tyr556His) rs752797989
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro) rs2145096206
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg) rs876658266
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
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.1683G>C (p.Gln561His) rs1209325148
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr) rs2077610488
NM_032043.3(BRIP1):c.1687G>A (p.Asp563Asn) rs2145095363
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del) rs780590493
NM_032043.3(BRIP1):c.1688A>T (p.Asp563Val) rs577768294
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr) rs755635967
NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu) rs1603334619
NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala) rs1603334596
NM_032043.3(BRIP1):c.1697A>T (p.Asp566Val) rs1603334596
NM_032043.3(BRIP1):c.1698C>G (p.Asp566Glu)
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr) rs2077609583
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del) rs1555602554
NM_032043.3(BRIP1):c.1705G>C (p.Gly569Arg) rs1259933364
NM_032043.3(BRIP1):c.1705G>T (p.Gly569Trp) rs1259933364
NM_032043.3(BRIP1):c.1706G>A (p.Gly569Glu)
NM_032043.3(BRIP1):c.1706G>C (p.Gly569Ala) rs373228183
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val) rs373228183
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del) rs754566378
NM_032043.3(BRIP1):c.1709T>C (p.Leu570Ser) rs2077609103
NM_032043.3(BRIP1):c.1710G>C (p.Leu570Phe) rs370087045
NM_032043.3(BRIP1):c.1713G>C (p.Leu571Phe)
NM_032043.3(BRIP1):c.1714G>A (p.Val572Ile) rs1567813643
NM_032043.3(BRIP1):c.1714G>C (p.Val572Leu) rs1567813643
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly) rs1603334516
NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)
NM_032043.3(BRIP1):c.1721C>G (p.Pro574Arg)
NM_032043.3(BRIP1):c.1725A>G (p.Lys575=) rs1555602537
NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser) rs587778132
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
NM_032043.3(BRIP1):c.1730A>G (p.Lys577Arg) rs1411869768
NM_032043.3(BRIP1):c.1731_1733del (p.Lys578del) rs1355330975
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser) rs28997571
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu) rs1356014648
NM_032043.3(BRIP1):c.173G>C (p.Cys58Ser) rs749920386
NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys)
NM_032043.3(BRIP1):c.1751C>A (p.Thr584Asn) rs2145092153
NM_032043.3(BRIP1):c.1751C>G (p.Thr584Ser) rs2145092153
NM_032043.3(BRIP1):c.1753G>A (p.Ala585Thr)
NM_032043.3(BRIP1):c.1753G>C (p.Ala585Pro) rs1603334364
NM_032043.3(BRIP1):c.1756G>C (p.Val586Leu)
NM_032043.3(BRIP1):c.1759C>A (p.His587Asn) rs876660519
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met) rs876660355
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
NM_032043.3(BRIP1):c.176C>G (p.Ser59Cys)
NM_032043.3(BRIP1):c.176C>T (p.Ser59Phe) rs2078949491
NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys)
NM_032043.3(BRIP1):c.1770C>G (p.Asn590Lys) rs2077606990
NM_032043.3(BRIP1):c.1774T>C (p.Trp592Arg)
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly) rs587780231
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys) rs753023295
NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val) rs876658256
NM_032043.3(BRIP1):c.1781T>C (p.Leu594Ser) rs587781559
NM_032043.3(BRIP1):c.1782A>T (p.Leu594Phe) rs1567813260
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu) rs864622155
NM_032043.3(BRIP1):c.1789G>T (p.Ala597Ser) rs2077606219
NM_032043.3(BRIP1):c.178G>A (p.Ala60Thr) rs1555618394
NM_032043.3(BRIP1):c.178G>C (p.Ala60Pro) rs1555618394
NM_032043.3(BRIP1):c.1790C>G (p.Ala597Gly) rs751667661
NM_032043.3(BRIP1):c.1794+13T>G rs2145089397
NM_032043.3(BRIP1):c.1794+2dup rs2077605901
NM_032043.3(BRIP1):c.1794+6C>T rs1429375125
NM_032043.3(BRIP1):c.1795-16T>G
NM_032043.3(BRIP1):c.1795-17A>G rs1567812766
NM_032043.3(BRIP1):c.1795G>A (p.Ala599Thr)
NM_032043.3(BRIP1):c.1795G>T (p.Ala599Ser) rs2145081985
NM_032043.3(BRIP1):c.1796C>T (p.Ala599Val)
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe) rs1603368484
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly) rs1555602221
NM_032043.3(BRIP1):c.1808T>A (p.Ile603Asn) rs1555602215
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr) rs1555602215
NM_032043.3(BRIP1):c.1814G>A (p.Gly605Asp) rs2145081033
NM_032043.3(BRIP1):c.1816A>C (p.Lys606Gln) rs1386348664
NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)
NM_032043.3(BRIP1):c.181T>G (p.Leu61Val)
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.1826C>G (p.Thr609Ser)
NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)
NM_032043.3(BRIP1):c.1828A>G (p.Ile610Val)
NM_032043.3(BRIP1):c.1829T>C (p.Ile610Thr)
NM_032043.3(BRIP1):c.182T>C (p.Leu61Ser) rs1567876917
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser) rs2077597358
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe) rs1464898721
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile) rs864622345
NM_032043.3(BRIP1):c.1840T>A (p.Ser614Thr) rs2145079541
NM_032043.3(BRIP1):c.1841C>T (p.Ser614Phe)
NM_032043.3(BRIP1):c.1843G>A (p.Gly615Ser) rs1555602203
NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp)
NM_032043.3(BRIP1):c.1844G>T (p.Gly615Val) rs2077597056
NM_032043.3(BRIP1):c.1846A>G (p.Thr616Ala) rs1397233707
NM_032043.3(BRIP1):c.1848A>G (p.Thr616=) rs1603333238
NM_032043.3(BRIP1):c.184G>A (p.Ala62Thr) rs786202861
NM_032043.3(BRIP1):c.184G>T (p.Ala62Ser) rs786202861
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser) rs1064794095
NM_032043.3(BRIP1):c.1852T>A (p.Ser618Thr) rs876660191
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro) rs876660191
NM_032043.3(BRIP1):c.1855C>G (p.Pro619Ala) rs2077596661
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser) rs2077596661
NM_032043.3(BRIP1):c.1858A>G (p.Met620Val) rs876658346
NM_032043.3(BRIP1):c.1859T>A (p.Met620Lys) rs1555602185
NM_032043.3(BRIP1):c.1859T>C (p.Met620Thr) rs1555602185
NM_032043.3(BRIP1):c.185C>T (p.Ala62Val) rs2078949086
NM_032043.3(BRIP1):c.1861A>G (p.Lys621Glu)
NM_032043.3(BRIP1):c.1864T>C (p.Ser622Pro) rs2077596367
NM_032043.3(BRIP1):c.1865C>T (p.Ser622Phe) rs2077596312
NM_032043.3(BRIP1):c.1867T>A (p.Phe623Ile) rs864622438
NM_032043.3(BRIP1):c.1867T>C (p.Phe623Leu) rs864622438
NM_032043.3(BRIP1):c.1868T>G (p.Phe623Cys) rs2145077916
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1874C>T (p.Ser625Leu)
NM_032043.3(BRIP1):c.1877A>T (p.Glu626Val) rs2145077565
NM_032043.3(BRIP1):c.1879C>T (p.Leu627Phe) rs2077595930
NM_032043.3(BRIP1):c.187T>A (p.Trp63Arg) rs1603367652
NM_032043.3(BRIP1):c.1880T>A (p.Leu627His) rs1567812479
NM_032043.3(BRIP1):c.1880T>G (p.Leu627Arg) rs1567812479
NM_032043.3(BRIP1):c.1882G>A (p.Gly628Ser)
NM_032043.3(BRIP1):c.1883G>A (p.Gly628Asp) rs1064794907
NM_032043.3(BRIP1):c.1883G>T (p.Gly628Val) rs1064794907
NM_032043.3(BRIP1):c.1888A>G (p.Thr630Ala) rs2077595608
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys) rs780407946
NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala) rs1555602149
NM_032043.3(BRIP1):c.1894A>T (p.Thr632Ser) rs1555602149
NM_032043.3(BRIP1):c.1895C>G (p.Thr632Ser)
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu) rs765314472
NM_032043.3(BRIP1):c.1898T>A (p.Ile633Asn) rs587780232
NM_032043.3(BRIP1):c.1898T>C (p.Ile633Thr) rs587780232
NM_032043.3(BRIP1):c.1901A>G (p.Gln634Arg) rs2145076105
NM_032043.3(BRIP1):c.1902G>C (p.Gln634His) rs1060501748
NM_032043.3(BRIP1):c.1904T>C (p.Leu635Pro) rs2145075890
NM_032043.3(BRIP1):c.1906G>A (p.Glu636Lys) rs1060501769
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro) rs541203428
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp) rs2077594670
NM_032043.3(BRIP1):c.1915C>A (p.His639Asn) rs2145075261
NM_032043.3(BRIP1):c.1916A>G (p.His639Arg) rs1603333030
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val) rs2145075101
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe) rs1603333007
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His) rs2145074666
NM_032043.3(BRIP1):c.1930T>A (p.Ser644Thr) rs2077594282
NM_032043.3(BRIP1):c.1933C>G (p.Gln645Glu) rs2145074343
NM_032043.3(BRIP1):c.1935+4_1935+7del rs766199221
NM_032043.3(BRIP1):c.1935+5G>A rs1209289625
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.1935+6T>C rs1555602118
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=) rs1254051324
NM_032043.3(BRIP1):c.1936-12T>G
NM_032043.3(BRIP1):c.1936-12_1936-10del rs2145034941
NM_032043.3(BRIP1):c.1936-4C>G rs587780552
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT rs587781481
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1943T>G (p.Val648Gly) rs2077537998
NM_032043.3(BRIP1):c.1946G>A (p.Gly649Asp) rs746066323
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala) rs746066323
NM_032043.3(BRIP1):c.1949C>T (p.Thr650Ile) rs2077537888
NM_032043.3(BRIP1):c.194A>C (p.Gln65Pro) rs1555618377
NM_032043.3(BRIP1):c.194_199del (p.Gln65_Ser66del) rs2078948660
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val) rs778867622
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu) rs756511744
NM_032043.3(BRIP1):c.195A>C (p.Gln65His) rs141436143
NM_032043.3(BRIP1):c.1960G>A (p.Gly654Ser) rs1567809053
NM_032043.3(BRIP1):c.1963C>T (p.Pro655Ser) rs753036322
NM_032043.3(BRIP1):c.1964C>G (p.Pro655Arg) rs767872111
NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg) rs1322017079
NM_032043.3(BRIP1):c.1968G>T (p.Lys656Asn) rs1064793415
NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)
NM_032043.3(BRIP1):c.1969G>T (p.Gly657Cys)
NM_032043.3(BRIP1):c.1970G>A (p.Gly657Asp) rs1603328878
NM_032043.3(BRIP1):c.1970G>T (p.Gly657Val) rs1603328878
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly) rs786203170
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln) rs759142191
NM_032043.3(BRIP1):c.1976A>G (p.Asn659Ser) rs1213142447
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe) rs1060501746
NM_032043.3(BRIP1):c.197C>T (p.Ser66Phe) rs2078948703
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr) rs1160736353
NM_032043.3(BRIP1):c.1982G>T (p.Cys661Phe) rs1160736353
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala) rs1567808933
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu) rs2145031487
NM_032043.3(BRIP1):c.1996A>C (p.Asn666His) rs765816425
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp) rs765816425
NM_032043.3(BRIP1):c.199C>G (p.Leu67Val)
NM_032043.3(BRIP1):c.199C>T (p.Leu67Phe)
NM_032043.3(BRIP1):c.19G>A (p.Glu7Lys) rs1246321339
NM_032043.3(BRIP1):c.1A>T (p.Met1Leu) rs764585550
NM_032043.3(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser) rs1555601107
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly) rs587778135
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg) rs786203619
NM_032043.3(BRIP1):c.2020G>A (p.Asp674Asn) rs1567808842
NM_032043.3(BRIP1):c.2021A>G (p.Asp674Gly) rs1555601087
NM_032043.3(BRIP1):c.2022T>G (p.Asp674Glu)
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala) rs1555601081
NM_032043.3(BRIP1):c.2026G>A (p.Val676Met) rs2077535030
NM_032043.3(BRIP1):c.2029G>A (p.Gly677Arg) rs1555601069
NM_032043.3(BRIP1):c.2029_2049del (p.Gly677_Val683del) rs2077534052
NM_032043.3(BRIP1):c.202A>G (p.Ser68Gly)
NM_032043.3(BRIP1):c.2030G>A (p.Gly677Glu) rs1567808797
NM_032043.3(BRIP1):c.2032G>A (p.Ala678Thr) rs2077534711
NM_032043.3(BRIP1):c.2033C>T (p.Ala678Val) rs1211313166
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe) rs1555601056
NM_032043.3(BRIP1):c.2039T>C (p.Leu680Ser) rs2077534379
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro) rs2077534218
NM_032043.3(BRIP1):c.205+4A>G rs1060501753
NM_032043.3(BRIP1):c.205+4A>T
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe) rs2145028133
NM_032043.3(BRIP1):c.2054A>T (p.Gln685Leu) rs2077533936
NM_032043.3(BRIP1):c.2055G>C (p.Gln685His) rs1603328545
NM_032043.3(BRIP1):c.2055_2066del (p.Thr686_Gln689del) rs2145027145
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met) rs876659296
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp) rs372581879
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
NM_032043.3(BRIP1):c.206-1G>T rs1555617934
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala) rs1555601030
NM_032043.3(BRIP1):c.2063G>A (p.Ser688Asn)
NM_032043.3(BRIP1):c.2066A>G (p.Gln689Arg) rs2145027105
NM_032043.3(BRIP1):c.2068G>A (p.Gly690Arg)
NM_032043.3(BRIP1):c.2069G>C (p.Gly690Ala)
NM_032043.3(BRIP1):c.2071A>G (p.Ile691Val) rs587782356
NM_032043.3(BRIP1):c.2073T>G (p.Ile691Met)
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe) rs1555601008
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro) rs1603328426
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
NM_032043.3(BRIP1):c.2097+5G>T
NM_032043.3(BRIP1):c.2097+6G>A rs1603328382
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=) rs1060501754
NM_032043.3(BRIP1):c.2098T>C (p.Leu700=) rs2077034962
NM_032043.3(BRIP1):c.209A>C (p.Lys70Thr) rs957072709
NM_032043.3(BRIP1):c.209A>G (p.Lys70Arg) rs957072709
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser) rs876658270
NM_032043.3(BRIP1):c.2105A>G (p.Glu702Gly)
NM_032043.3(BRIP1):c.2107A>G (p.Lys703Glu)
NM_032043.3(BRIP1):c.2108A>G (p.Lys703Arg) rs756412722
NM_032043.3(BRIP1):c.2119C>A (p.Arg707Ser) rs764803896
NM_032043.3(BRIP1):c.2119C>G (p.Arg707Gly) rs764803896
NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)
NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser) rs876659680
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His) rs200313471
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu) rs200313471
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=) rs1481107855
NM_032043.3(BRIP1):c.2125C>G (p.Leu709Val) rs2077033994
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro) rs1567781600
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala) rs1555591505
NM_032043.3(BRIP1):c.2131A>C (p.Thr711Pro) rs760515227
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
NM_032043.3(BRIP1):c.2135G>A (p.Gly712Asp) rs1060501755
NM_032043.3(BRIP1):c.2135G>C (p.Gly712Ala) rs1060501755
NM_032043.3(BRIP1):c.2135G>T (p.Gly712Val) rs1060501755
NM_032043.3(BRIP1):c.2140T>C (p.Trp714Arg) rs1603304614
NM_032043.3(BRIP1):c.2143C>G (p.His715Asp) rs2077033211
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg) rs1253181575
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.2150T>C (p.Leu717Pro) rs2077032975
NM_032043.3(BRIP1):c.2151G>A (p.Leu717=) rs2077032938
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)
NM_032043.3(BRIP1):c.2157G>T (p.Leu719Phe) rs2144699040
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met) rs1555591459
NM_032043.3(BRIP1):c.2158G>T (p.Val720Leu) rs1555591459
NM_032043.3(BRIP1):c.2158_2160del (p.Val720del) rs878855146
NM_032043.3(BRIP1):c.215C>A (p.Ala72Glu) rs2078910927
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile) rs1603304593
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu) rs2077032430
NM_032043.3(BRIP1):c.2170A>G (p.Ile724Val)
NM_032043.3(BRIP1):c.2171T>C (p.Ile724Thr) rs1312043643
NM_032043.3(BRIP1):c.2172T>G (p.Ile724Met) rs777860588
NM_032043.3(BRIP1):c.2173G>A (p.Val725Ile) rs1236873736
NM_032043.3(BRIP1):c.2174T>A (p.Val725Glu) rs2144698131
NM_032043.3(BRIP1):c.2178A>C (p.Glu726Asp) rs1555591425
NM_032043.3(BRIP1):c.2180C>A (p.Pro727Gln) rs876659309
NM_032043.3(BRIP1):c.2180C>T (p.Pro727Leu) rs876659309
NM_032043.3(BRIP1):c.2182C>G (p.Gln728Glu) rs1296238058
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu) rs2144697784
NM_032043.3(BRIP1):c.2184G>C (p.Gln728His) rs2077031766
NM_032043.3(BRIP1):c.2185G>A (p.Gly729Arg) rs1555591407
NM_032043.3(BRIP1):c.2186G>A (p.Gly729Glu) rs1404094308
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys) rs1603304544
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile) rs2077031435
NM_032043.3(BRIP1):c.2200A>C (p.Asn734His) rs2144697244
NM_032043.3(BRIP1):c.2201A>G (p.Asn734Ser) rs2144697198
NM_032043.3(BRIP1):c.2205T>G (p.Phe735Leu)
NM_032043.3(BRIP1):c.2206G>A (p.Asp736Asn) rs2144697004
NM_032043.3(BRIP1):c.2208T>G (p.Asp736Glu) rs2077031257
NM_032043.3(BRIP1):c.220G>C (p.Glu74Gln) rs2145831329
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro) rs587780234
NM_032043.3(BRIP1):c.2216T>G (p.Leu739Arg)
NM_032043.3(BRIP1):c.2218C>G (p.Gln740Glu) rs1555591361
NM_032043.3(BRIP1):c.2221G>A (p.Val741Met) rs1308293137
NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu) rs1308293137
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala) rs1555591357
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser) rs1555591351
NM_032043.3(BRIP1):c.2227T>G (p.Tyr743Asp) rs2144695971
NM_032043.3(BRIP1):c.2228A>C (p.Tyr743Ser) rs750033391
NM_032043.3(BRIP1):c.2228A>G (p.Tyr743Cys)
NM_032043.3(BRIP1):c.222G>C (p.Glu74Asp)
NM_032043.3(BRIP1):c.2230G>C (p.Asp744His) rs2144695830
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu) rs374362388
NM_032043.3(BRIP1):c.2234C>T (p.Ala745Val) rs2144695654
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys) rs1317680188
NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)
NM_032043.3(BRIP1):c.2249G>A (p.Gly750Glu)
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val) rs764061653
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln) rs760438320
NM_032043.3(BRIP1):c.2254A>C (p.Lys752Gln) rs876659651
NM_032043.3(BRIP1):c.2255A>G (p.Lys752Arg) rs876660016
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
NM_032043.3(BRIP1):c.2257+3A>G rs2144694655
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His) rs1603304458
NM_032043.3(BRIP1):c.2258-3A>C rs786203561
NM_032043.3(BRIP1):c.2258-3A>G rs786203561
NM_032043.3(BRIP1):c.2258-5T>G rs1555590588
NM_032043.3(BRIP1):c.2258-7G>A rs1060501777
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu) rs2077009355
NM_032043.3(BRIP1):c.2263G>A (p.Ala755Thr)
NM_032043.3(BRIP1):c.2264C>G (p.Ala755Gly) rs1555590565
NM_032043.3(BRIP1):c.2264C>T (p.Ala755Val) rs1555590565
NM_032043.3(BRIP1):c.226G>T (p.Val76Leu) rs769573395
NM_032043.3(BRIP1):c.2272G>A (p.Val758Ile) rs1192826909
NM_032043.3(BRIP1):c.2272G>T (p.Val758Leu) rs1192826909
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly) rs2144679532
NM_032043.3(BRIP1):c.2282G>A (p.Cys761Tyr)
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser) rs1567779745
NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr) rs1555590511
NM_032043.3(BRIP1):c.2285G>T (p.Arg762Leu) rs200960251
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu) rs1603303860
NM_032043.3(BRIP1):c.2292A>G (p.Lys764=) rs2144678763
NM_032043.3(BRIP1):c.2296A>G (p.Ser766Gly)
NM_032043.3(BRIP1):c.2297G>A (p.Ser766Asn) rs2144678538
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp) rs369434185
NM_032043.3(BRIP1):c.2302G>A (p.Gly768Ser) rs2077008054
NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val) rs1603303846
NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)
NM_032043.3(BRIP1):c.2308G>A (p.Asp770Asn) rs2077007860
NM_032043.3(BRIP1):c.2308G>T (p.Asp770Tyr) rs2077007860
NM_032043.3(BRIP1):c.2309A>G (p.Asp770Gly) rs1555590457
NM_032043.3(BRIP1):c.2311T>C (p.Phe771Leu) rs2144677768
NM_032043.3(BRIP1):c.2313C>G (p.Phe771Leu)
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn) rs146091205
NM_032043.3(BRIP1):c.2321A>G (p.Asp774Gly) rs992780498
NM_032043.3(BRIP1):c.2321A>T (p.Asp774Val)
NM_032043.3(BRIP1):c.2322C>A (p.Asp774Glu) rs1057520434
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys) rs375146450
NM_032043.3(BRIP1):c.2326G>A (p.Ala776Thr) rs2077007192
NM_032043.3(BRIP1):c.2327C>A (p.Ala776Asp) rs1555590421
NM_032043.3(BRIP1):c.2329C>G (p.Arg777Gly) rs768555161
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys) rs768555161
NM_032043.3(BRIP1):c.232G>A (p.Glu78Lys) rs2145830931
NM_032043.3(BRIP1):c.2330G>C (p.Arg777Pro) rs747568830
NM_032043.3(BRIP1):c.2332G>A (p.Ala778Thr) rs2144676807
NM_032043.3(BRIP1):c.2332G>T (p.Ala778Ser) rs2144676807
NM_032043.3(BRIP1):c.2333C>T (p.Ala778Val) rs2077006983
NM_032043.3(BRIP1):c.2335G>A (p.Val779Ile) rs1603303802
NM_032043.3(BRIP1):c.2335G>C (p.Val779Leu) rs1603303802
NM_032043.3(BRIP1):c.2335G>T (p.Val779Phe) rs1603303802
NM_032043.3(BRIP1):c.2336T>A (p.Val779Asp) rs1567779485
NM_032043.3(BRIP1):c.2338A>G (p.Ile780Val) rs776131401
NM_032043.3(BRIP1):c.2339T>A (p.Ile780Lys) rs1467232177
NM_032043.3(BRIP1):c.2339T>C (p.Ile780Thr) rs1467232177
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg) rs1467232177
NM_032043.3(BRIP1):c.2345T>A (p.Ile782Lys)
NM_032043.3(BRIP1):c.2348G>A (p.Gly783Glu) rs2077006387
NM_032043.3(BRIP1):c.2349A>T (p.Gly783=) rs863224799
NM_032043.3(BRIP1):c.2350A>G (p.Ile784Val) rs1603303771
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu) rs2144675861
NM_032043.3(BRIP1):c.2356T>C (p.Phe786Leu)
NM_032043.3(BRIP1):c.2360C>G (p.Pro787Arg) rs1555590356
NM_032043.3(BRIP1):c.2364T>A (p.Asn788Lys) rs587783045
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu) rs876661097
NM_032043.3(BRIP1):c.2366T>C (p.Val789Ala) rs1060501728
NM_032043.3(BRIP1):c.236A>C (p.Lys79Thr) rs2145830866
NM_032043.3(BRIP1):c.2372A>G (p.Asp791Gly) rs876658934
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032043.3(BRIP1):c.2373T>A (p.Asp791Glu) rs876659615
NM_032043.3(BRIP1):c.2374C>A (p.Leu792Ile) rs2144675104
NM_032043.3(BRIP1):c.2375T>A (p.Leu792Gln)
NM_032043.3(BRIP1):c.2379+17T>G rs2144674490
NM_032043.3(BRIP1):c.2379+4G>A
NM_032043.3(BRIP1):c.2379+5G>C rs1567779316
NM_032043.3(BRIP1):c.2380-10A>G rs2061858108
NM_032043.3(BRIP1):c.2380-20A>G rs977667900
NM_032043.3(BRIP1):c.2380-7T>G rs2144384592
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe) rs1261005517
NM_032043.3(BRIP1):c.2383G>A (p.Glu795Lys)
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His) rs1305107535
NM_032043.3(BRIP1):c.2399A>G (p.Tyr800Cys) rs2061856846
NM_032043.3(BRIP1):c.23A>G (p.Tyr8Cys)
NM_032043.3(BRIP1):c.2401A>G (p.Asn801Asp) rs1408016407
NM_032043.3(BRIP1):c.2404G>A (p.Asp802Asn)
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly) rs876660273
NM_032043.3(BRIP1):c.2406C>A (p.Asp802Glu) rs748981650
NM_032043.3(BRIP1):c.2407C>T (p.His803Tyr) rs2061856155
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg) rs777277034
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu) rs747622456
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly) rs587780237
NM_032043.3(BRIP1):c.2425G>A (p.Gly809Ser) rs1555580892
NM_032043.3(BRIP1):c.2426G>A (p.Gly809Asp)
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val) rs1555580886
NM_032043.3(BRIP1):c.2429T>C (p.Leu810Pro) rs2061855206
NM_032043.3(BRIP1):c.2429T>G (p.Leu810Arg)
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val) rs2144381821
NM_032043.3(BRIP1):c.2434C>A (p.Pro812Thr) rs779915262
NM_032043.3(BRIP1):c.2435C>A (p.Pro812His) rs876659410
NM_032043.3(BRIP1):c.2435C>G (p.Pro812Arg) rs876659410
NM_032043.3(BRIP1):c.2436T>A (p.Pro812=) rs2061854737
NM_032043.3(BRIP1):c.2437G>C (p.Gly813Arg) rs2144381512
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly) rs201869624
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly) rs1338241931
NM_032043.3(BRIP1):c.2448G>T (p.Trp816Cys) rs1064795352
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys) rs1555580828
NM_032043.3(BRIP1):c.2452G>A (p.Glu818Lys) rs1555580819
NM_032043.3(BRIP1):c.2452G>C (p.Glu818Gln) rs1555580819
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu) rs876659594
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val) rs876658697
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys) rs587781572
NM_032043.3(BRIP1):c.2468G>A (p.Arg823Lys) rs45479297
NM_032043.3(BRIP1):c.2468G>T (p.Arg823Met) rs45479297
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
NM_032043.3(BRIP1):c.2478C>G (p.Asn826Lys) rs774939280
NM_032043.3(BRIP1):c.2479C>A (p.Gln827Lys) rs786203898
NM_032043.3(BRIP1):c.2479C>G (p.Gln827Glu) rs786203898
NM_032043.3(BRIP1):c.2481G>C (p.Gln827His) rs2061853111
NM_032043.3(BRIP1):c.2483C>G (p.Ala828Gly) rs2061853042
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser) rs876659062
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly) rs2144378901
NM_032043.3(BRIP1):c.2492+3A>C rs1555580758
NM_032043.3(BRIP1):c.2492+3A>T
NM_032043.3(BRIP1):c.2492+5G>C rs763222019
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys) rs771382903
NM_032043.3(BRIP1):c.2493-17_2493-16del
NM_032043.3(BRIP1):c.2493-3T>G rs2061479378
NM_032043.3(BRIP1):c.2494T>C (p.Cys832Arg) rs768222842
NM_032043.3(BRIP1):c.2494T>G (p.Cys832Gly) rs768222842
NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)
NM_032043.3(BRIP1):c.2495G>T (p.Cys832Phe)
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr) rs876660936
NM_032043.3(BRIP1):c.2500A>G (p.Arg834Gly)
NM_032043.3(BRIP1):c.2501G>A (p.Arg834Lys)
NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)
NM_032043.3(BRIP1):c.2505C>G (p.His835Gln) rs775547651
NM_032043.3(BRIP1):c.2507G>T (p.Arg836Ile) rs1060501736
NM_032043.3(BRIP1):c.2508A>C (p.Arg836Ser) rs2061478740
NM_032043.3(BRIP1):c.2510A>G (p.Asn837Ser) rs1555574810
NM_032043.3(BRIP1):c.2512G>C (p.Asp838His)
NM_032043.3(BRIP1):c.2513A>T (p.Asp838Val) rs1567737801
NM_032043.3(BRIP1):c.2515T>A (p.Trp839Arg) rs1555574807
NM_032043.3(BRIP1):c.2515T>G (p.Trp839Gly) rs1555574807
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
NM_032043.3(BRIP1):c.2521G>A (p.Ala841Thr) rs1555574790
NM_032043.3(BRIP1):c.2524C>G (p.Leu842Val) rs786201802
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe) rs786201802
NM_032043.3(BRIP1):c.2525T>C (p.Leu842Pro) rs1060501751
NM_032043.3(BRIP1):c.2525T>G (p.Leu842Arg) rs1060501751
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr) rs996693020
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His) rs876659409
NM_032043.3(BRIP1):c.2537A>T (p.Asp846Val) rs2144186438
NM_032043.3(BRIP1):c.2538T>G (p.Asp846Glu)
NM_032043.3(BRIP1):c.2539G>A (p.Asp847Asn) rs876659013
NM_032043.3(BRIP1):c.253T>C (p.Ser85Pro) rs2145830182
NM_032043.3(BRIP1):c.2540A>G (p.Asp847Gly)
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser) rs45572934
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly) rs45572934
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys) rs45572934
NM_032043.3(BRIP1):c.2545T>C (p.Phe849Leu) rs786202317
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys) rs2061477480
NM_032043.3(BRIP1):c.2550G>T (p.Arg850Ser) rs2144185990
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser) rs2061477443
NM_032043.3(BRIP1):c.2553T>G (p.Asn851Lys) rs587781793
NM_032043.3(BRIP1):c.2556C>A (p.Asn852Lys)
NM_032043.3(BRIP1):c.2556C>G (p.Asn852Lys) rs876658785
NM_032043.3(BRIP1):c.2558C>G (p.Pro853Arg) rs1060501775
NM_032043.3(BRIP1):c.2558C>T (p.Pro853Leu) rs1060501775
NM_032043.3(BRIP1):c.2561G>A (p.Ser854Asn) rs2061477133
NM_032043.3(BRIP1):c.2561G>T (p.Ser854Ile) rs2061477133
NM_032043.3(BRIP1):c.2562T>G (p.Ser854Arg) rs1555574734
NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser) rs146031731
NM_032043.3(BRIP1):c.2564G>T (p.Arg855Leu) rs200894063
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His) rs2061476921
NM_032043.3(BRIP1):c.256T>C (p.Cys86Arg) rs1555617900
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del) rs587781388
NM_032043.3(BRIP1):c.2570T>C (p.Ile857Thr) rs766432760
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=) rs1555574712
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.2575+6A>G rs1555574710
NM_032043.3(BRIP1):c.2576-3T>C rs2144119000
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe) rs1555573507
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro) rs1567732145
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu) rs1603277012
NM_032043.3(BRIP1):c.2586A>T (p.Lys862Asn) rs745318756
NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg) rs876660452
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.2591T>C (p.Val864Ala) rs1294102948
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro) rs781609846
NM_032043.3(BRIP1):c.2597A>T (p.Gln866Leu) rs1603276987
NM_032043.3(BRIP1):c.2599C>A (p.Gln867Lys) rs182028200
NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser) rs1555617897
NM_032043.3(BRIP1):c.259T>C (p.Cys87Arg) rs1555617897
NM_032043.3(BRIP1):c.25A>G (p.Thr9Ala) rs2078973246
NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)
NM_032043.3(BRIP1):c.2603T>C (p.Ile868Thr) rs2061361421
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu) rs1060501766
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
NM_032043.3(BRIP1):c.2609A>C (p.His870Pro) rs864622201
NM_032043.3(BRIP1):c.2609A>G (p.His870Arg)
NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr) rs863224800
NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser) rs863224800
NM_032043.3(BRIP1):c.2610C>A (p.His870Gln)
NM_032043.3(BRIP1):c.2610C>G (p.His870Gln) rs2144117805
NM_032043.3(BRIP1):c.2611C>T (p.His871Tyr) rs786203288
NM_032043.3(BRIP1):c.2613T>A (p.His871Gln)
NM_032043.3(BRIP1):c.2614T>A (p.Ser872Thr) rs2061360803
NM_032043.3(BRIP1):c.2615C>T (p.Ser872Leu) rs587781964
NM_032043.3(BRIP1):c.2617A>T (p.Thr873Ser) rs758444508
NM_032043.3(BRIP1):c.2624A>G (p.Glu875Gly)
NM_032043.3(BRIP1):c.2626A>G (p.Ser876Gly) rs1555573469
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn) rs750961319
NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)
NM_032043.3(BRIP1):c.2628T>G (p.Ser876Arg) rs1032574757
NM_032043.3(BRIP1):c.2629G>A (p.Ala877Thr)
NM_032043.3(BRIP1):c.2629G>C (p.Ala877Pro) rs1567731966
NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly) rs1555617890
NM_032043.3(BRIP1):c.2630C>T (p.Ala877Val) rs1555573465
NM_032043.3(BRIP1):c.2635G>A (p.Glu879Lys) rs1391013628
NM_032043.3(BRIP1):c.2636A>G (p.Glu879Gly) rs1202665874
NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)
NM_032043.3(BRIP1):c.2642T>C (p.Leu881Ser) rs2061359874
NM_032043.3(BRIP1):c.2642T>G (p.Leu881Trp) rs2061359874
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys) rs2061359691
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
NM_032043.3(BRIP1):c.2656A>C (p.Lys886Gln)
NM_032043.3(BRIP1):c.265G>A (p.Ala89Thr) rs1555617884
NM_032043.3(BRIP1):c.265G>T (p.Ala89Ser)
NM_032043.3(BRIP1):c.2661G>T (p.Lys887Asn)
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp) rs757668121
NM_032043.3(BRIP1):c.2663A>C (p.His888Pro) rs2061359359
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg) rs2061359230
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg) rs902432731
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.3(BRIP1):c.2671G>A (p.Val891Ile) rs754224663
NM_032043.3(BRIP1):c.2672T>C (p.Val891Ala)
NM_032043.3(BRIP1):c.2674C>G (p.Leu892Val) rs2144115542
NM_032043.3(BRIP1):c.2675T>A (p.Leu892His) rs2061358811
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His) rs2144115463
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile) rs1603276880
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu) rs764406913
NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)
NM_032043.3(BRIP1):c.2697A>C (p.Arg899Ser) rs1603276849
NM_032043.3(BRIP1):c.2698A>C (p.Thr900Pro)
NM_032043.3(BRIP1):c.2699C>A (p.Thr900Asn) rs1359809807
NM_032043.3(BRIP1):c.2699C>G (p.Thr900Ser) rs1359809807
NM_032043.3(BRIP1):c.2699C>T (p.Thr900Ile)
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys) rs1603276837
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro) rs2061357542
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn) rs1555573413
NM_032043.3(BRIP1):c.2712C>A (p.Asp904Glu) rs1567731807
NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser) rs1555573412
NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp) rs1042327124
NM_032043.3(BRIP1):c.271C>T (p.His91Tyr) rs2145829433
NM_032043.3(BRIP1):c.2720C>T (p.Ser907Phe) rs2061357079
NM_032043.3(BRIP1):c.2725C>A (p.Leu909Ile)
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val) rs587781853
NM_032043.3(BRIP1):c.2725C>T (p.Leu909Phe) rs587781853
NM_032043.3(BRIP1):c.2726T>C (p.Leu909Pro) rs770966270
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg) rs770966270
NM_032043.3(BRIP1):c.2728G>C (p.Glu910Gln) rs1007808618
NM_032043.3(BRIP1):c.2729A>G (p.Glu910Gly) rs1603276787
NM_032043.3(BRIP1):c.272A>C (p.His91Pro)
NM_032043.3(BRIP1):c.2731G>T (p.Val911Leu) rs1555573392
NM_032043.3(BRIP1):c.2732T>G (p.Val911Gly) rs2144113358
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn) rs571949350
NM_032043.3(BRIP1):c.2737T>G (p.Ser913Ala) rs1555573382
NM_032043.3(BRIP1):c.273T>G (p.His91Gln) rs2145829382
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.3(BRIP1):c.2746T>A (p.Tyr916Asn)
NM_032043.3(BRIP1):c.2746T>C (p.Tyr916His) rs2144112786
NM_032043.3(BRIP1):c.2749A>G (p.Ser917Gly) rs1603276749
NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro) rs755930156
NM_032043.3(BRIP1):c.2752A>G (p.Thr918Ala) rs1060501759
NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)
NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile) rs587781298
NM_032043.3(BRIP1):c.2759C>T (p.Pro920Leu)
NM_032043.3(BRIP1):c.275C>T (p.Ser92Leu)
NM_032043.3(BRIP1):c.2761T>A (p.Tyr921Asn) rs2144112225
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del) rs2061355023
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro) rs2144112007
NM_032043.3(BRIP1):c.2770G>A (p.Glu924Lys) rs1555573342
NM_032043.3(BRIP1):c.2771A>T (p.Glu924Val) rs1567731533
NM_032043.3(BRIP1):c.2773G>A (p.Ala925Thr) rs2061355245
NM_032043.3(BRIP1):c.2774C>G (p.Ala925Gly) rs2061355212
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly) rs2061355061
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro) rs772087074
NM_032043.3(BRIP1):c.2788T>A (p.Ser930Thr)
NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser) rs745940032
NM_032043.3(BRIP1):c.2792C>A (p.Pro931Gln) rs932408573
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu) rs932408573
NM_032043.3(BRIP1):c.2801T>G (p.Phe934Cys) rs778916092
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.2807A>G (p.Glu936Gly) rs878855149
NM_032043.3(BRIP1):c.2807A>T (p.Glu936Val) rs878855149
NM_032043.3(BRIP1):c.2809G>A (p.Asp937Asn) rs2061354513
NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr) rs2061354513
NM_032043.3(BRIP1):c.2810A>G (p.Asp937Gly) rs2061354479
NM_032043.3(BRIP1):c.2811T>G (p.Asp937Glu) rs374335608
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys) rs199643061
NM_032043.3(BRIP1):c.2813A>G (p.Glu938Gly)
NM_032043.3(BRIP1):c.2814A>C (p.Glu938Asp) rs1555573311
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr) rs2061354305
NM_032043.3(BRIP1):c.2820G>C (p.Lys940Asn)
NM_032043.3(BRIP1):c.2821A>C (p.Ile941Leu)
NM_032043.3(BRIP1):c.2821A>G (p.Ile941Val) rs2144110175
NM_032043.3(BRIP1):c.2824T>A (p.Cys942Ser)
NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg) rs1567731308
NM_032043.3(BRIP1):c.2825G>A (p.Cys942Tyr) rs370330739
NM_032043.3(BRIP1):c.2827G>C (p.Val943Leu) rs1401830781
NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala) rs786204143
NM_032043.3(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro) rs148232408
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg) rs148232408
NM_032043.3(BRIP1):c.2832G>C (p.Gln944His) rs1603276606
NM_032043.3(BRIP1):c.2833G>A (p.Glu945Lys) rs863224802
NM_032043.3(BRIP1):c.2836C>A (p.Leu946Ile) rs1603276593
NM_032043.3(BRIP1):c.2836C>G (p.Leu946Val) rs1603276593
NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln)
NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)
NM_032043.3(BRIP1):c.2840A>G (p.Gln947Arg) rs876659756
NM_032043.3(BRIP1):c.2844T>G (p.Cys948Trp) rs1567731150
NM_032043.3(BRIP1):c.2848A>C (p.Lys950Gln)
NM_032043.3(BRIP1):c.2850A>C (p.Lys950Asn) rs1603276576
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val) rs730881626
NM_032043.3(BRIP1):c.2855T>G (p.Ile952Ser) rs1060501735
NM_032043.3(BRIP1):c.2857A>G (p.Thr953Ala) rs587780245
NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)
NM_032043.3(BRIP1):c.2861A>C (p.Lys954Thr) rs2144108739
NM_032043.3(BRIP1):c.2861A>G (p.Lys954Arg) rs2144108739
NM_032043.3(BRIP1):c.2863A>G (p.Asn955Asp) rs587782244
NM_032043.3(BRIP1):c.2864A>G (p.Asn955Ser) rs2144108643
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala) rs2061352600
NM_032043.3(BRIP1):c.286A>G (p.Thr96Ala)
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu) rs786203077
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro) rs145859791
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.3(BRIP1):c.2878A>C (p.Ser960Arg) rs1603276532
NM_032043.3(BRIP1):c.2878A>G (p.Ser960Gly) rs1603276532
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile) rs2078908690
NM_032043.3(BRIP1):c.2882G>A (p.Ser961Asn) rs1060501732
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val) rs1603276520
NM_032043.3(BRIP1):c.2891C>T (p.Ser964Phe)
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
NM_032043.3(BRIP1):c.2894G>A (p.Arg965Lys) rs2061351932
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys) rs1305928655
NM_032043.3(BRIP1):c.289A>T (p.Asn97Tyr) rs2078908581
NM_032043.3(BRIP1):c.28A>G (p.Ile10Val) rs945685514
NM_032043.3(BRIP1):c.2905+117_2905+118insTA rs2144105643
NM_032043.3(BRIP1):c.2905+2T>A
NM_032043.3(BRIP1):c.2905+3A>T
NM_032043.3(BRIP1):c.2905+4T>A rs373835270
NM_032043.3(BRIP1):c.2905+5G>A
NM_032043.3(BRIP1):c.2906-2A>C
NM_032043.3(BRIP1):c.2906-3T>A rs370819200
NM_032043.3(BRIP1):c.2906-3T>G rs370819200
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser) rs1603275723
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn) rs1555572994
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile) rs1060501727
NM_032043.3(BRIP1):c.2917T>G (p.Phe973Val) rs1060501727
NM_032043.3(BRIP1):c.291C>A (p.Asn97Lys) rs766561078
NM_032043.3(BRIP1):c.2923G>C (p.Glu975Gln) rs1603275707
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr) rs864622628
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro) rs864622628
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser) rs864622628
NM_032043.3(BRIP1):c.2932G>A (p.Gly978Arg)
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg) rs2061326304
NM_032043.3(BRIP1):c.2938G>C (p.Ala980Pro) rs2061325944
NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu)
NM_032043.3(BRIP1):c.2944A>G (p.Lys982Glu) rs1316369686
NM_032043.3(BRIP1):c.2946A>T (p.Lys982Asn) rs2144093397
NM_032043.3(BRIP1):c.2947A>G (p.Ile983Val) rs755337038
NM_032043.3(BRIP1):c.2947A>T (p.Ile983Phe) rs755337038
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr) rs587781417
NM_032043.3(BRIP1):c.2949T>G (p.Ile983Met) rs746715917
NM_032043.3(BRIP1):c.294T>G (p.Asn98Lys) rs1555617859
NM_032043.3(BRIP1):c.2950G>A (p.Val984Met) rs2061325330
NM_032043.3(BRIP1):c.2950G>T (p.Val984Leu) rs2061325330
NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)
NM_032043.3(BRIP1):c.2954T>C (p.Ile985Thr)
NM_032043.3(BRIP1):c.295G>A (p.Asp99Asn) rs1603366321
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.3(BRIP1):c.2962T>C (p.Ser988Pro) rs2061324880
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe) rs758032378
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn) rs2144092757
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu) rs2061324725
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser) rs1276811545
NM_032043.3(BRIP1):c.2975C>A (p.Thr992Asn) rs2061324557
NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile) rs2061324557
NM_032043.3(BRIP1):c.2978T>A (p.Phe993Tyr)
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu) rs201617644
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu) rs1555572929
NM_032043.3(BRIP1):c.2986C>G (p.Gln996Glu) rs1567729513
NM_032043.3(BRIP1):c.2987A>G (p.Gln996Arg) rs1603275641
NM_032043.3(BRIP1):c.298A>T (p.Met100Leu)
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu) rs1603275633
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn) rs757225144
NM_032043.3(BRIP1):c.2996G>T (p.Arg999Ile) rs1603275620
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.3(BRIP1):c.3002G>A (p.Ser1001Asn) rs1603275610
NM_032043.3(BRIP1):c.3002G>C (p.Ser1001Thr)
NM_032043.3(BRIP1):c.3017A>G (p.Asn1006Ser)
NM_032043.3(BRIP1):c.301A>G (p.Asn101Asp) rs2145828545
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.3(BRIP1):c.3022T>A (p.Leu1008Met) rs1165704345
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser) rs2061323067
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg) rs587781328
NM_032043.3(BRIP1):c.3025G>C (p.Gly1009Arg) rs587781328
NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu) rs1555572908
NM_032043.3(BRIP1):c.3026G>T (p.Gly1009Val) rs1555572908
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His) rs1567729362
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
NM_032043.3(BRIP1):c.3041G>A (p.Gly1014Asp) rs876659757
NM_032043.3(BRIP1):c.3041G>C (p.Gly1014Ala) rs876659757
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg) rs1006002613
NM_032043.3(BRIP1):c.3047T>G (p.Ile1016Arg) rs2061322186
NM_032043.3(BRIP1):c.3048A>G (p.Ile1016Met)
NM_032043.3(BRIP1):c.3053A>G (p.Lys1018Arg) rs2061321875
NM_032043.3(BRIP1):c.3055G>A (p.Ala1019Thr) rs1603275556
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val) rs1555572884
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg) rs1484234707
NM_032043.3(BRIP1):c.305A>T (p.Gln102Leu)
NM_032043.3(BRIP1):c.3061C>T (p.Pro1021Ser) rs1555572880
NM_032043.3(BRIP1):c.3064G>C (p.Glu1022Gln) rs587782808
NM_032043.3(BRIP1):c.3065A>T (p.Glu1022Val) rs2144089594
NM_032043.3(BRIP1):c.3068T>C (p.Leu1023Pro) rs747345595
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg) rs147119272
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro) rs756712872
NM_032043.3(BRIP1):c.307G>A (p.Gly103Arg) rs777068696
NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala) rs863224804
NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)
NM_032043.3(BRIP1):c.3083A>C (p.Asn1028Thr) rs1060501762
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser) rs1060501762
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys) rs1424179519
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup) rs1187782159
NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val) rs767255426
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser) rs876659119
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr) rs765416041
NM_032043.3(BRIP1):c.3104G>C (p.Arg1035Pro) rs367816363
NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala) rs2145828204
NM_032043.3(BRIP1):c.3112A>G (p.Thr1038Ala) rs2061319595
NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg)
NM_032043.3(BRIP1):c.3113C>T (p.Thr1038Ile) rs2061319540
NM_032043.3(BRIP1):c.3116A>G (p.Glu1039Gly)
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln) rs876659428
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu) rs876659428
NM_032043.3(BRIP1):c.3121A>G (p.Met1041Val) rs1555572831
NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)
NM_032043.3(BRIP1):c.3125A>G (p.Glu1042Gly) rs1555572828
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn) rs1555572825
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile) rs1555572824
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu) rs1555572824
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu) rs896510433
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala) rs1567728933
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg) rs2061318138
NM_032043.3(BRIP1):c.3163T>A (p.Ser1055Thr) rs2144086036
NM_032043.3(BRIP1):c.3163T>C (p.Ser1055Pro)
NM_032043.3(BRIP1):c.3164C>A (p.Ser1055Tyr)
NM_032043.3(BRIP1):c.3169A>G (p.Asn1057Asp) rs2144085839
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser) rs587780247
NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys) rs2061317850
NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val) rs2061317781
NM_032043.3(BRIP1):c.3173T>G (p.Leu1058Arg) rs2144085714
NM_032043.3(BRIP1):c.3176C>G (p.Thr1059Arg) rs1400975728
NM_032043.3(BRIP1):c.3181A>C (p.Asn1061His) rs778430337
NM_032043.3(BRIP1):c.3181A>G (p.Asn1061Asp) rs778430337
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile) rs770517912
NM_032043.3(BRIP1):c.3192T>G (p.Phe1064Leu) rs2144084979
NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr) rs1199327421
NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro) rs1199327421
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg) rs878855153
NM_032043.3(BRIP1):c.319C>T (p.His107Tyr) rs2078907400
NM_032043.3(BRIP1):c.3200G>T (p.Cys1067Phe) rs2144084686
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu) rs2061316462
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu) rs2061316417
NM_032043.3(BRIP1):c.320A>C (p.His107Pro) rs876659809
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala) rs756074244
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn) rs786204068
NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr) rs1219988835
NM_032043.3(BRIP1):c.3223T>A (p.Ser1075Thr) rs368867532
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu) rs864622113
NM_032043.3(BRIP1):c.3233A>C (p.Lys1078Thr) rs1603275371
NM_032043.3(BRIP1):c.3234G>T (p.Lys1078Asn) rs570238270
NM_032043.3(BRIP1):c.3238G>C (p.Asp1080His) rs786204230
NM_032043.3(BRIP1):c.3238G>T (p.Asp1080Tyr) rs786204230
NM_032043.3(BRIP1):c.3241G>A (p.Ala1081Thr) rs1567728640
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val) rs1555572749
NM_032043.3(BRIP1):c.3245C>A (p.Thr1082Asn) rs1603275338
NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser) rs1603275338
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
NM_032043.3(BRIP1):c.3251C>G (p.Thr1084Ser) rs876660768
NM_032043.3(BRIP1):c.3253_3254delinsGT (p.Arg1085Val) rs2061314506
NM_032043.3(BRIP1):c.3254G>C (p.Arg1085Thr) rs1567728589
NM_032043.3(BRIP1):c.3256A>G (p.Lys1086Glu)
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp) rs2078907245
NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys) rs1567728557
NM_032043.3(BRIP1):c.3263A>G (p.His1088Arg) rs2061314121
NM_032043.3(BRIP1):c.3265T>G (p.Ser1089Ala) rs764205156
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys) rs761278503
NM_032043.3(BRIP1):c.3266C>T (p.Ser1089Phe) rs761278503
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr) rs1555572732
NM_032043.3(BRIP1):c.3274C>A (p.Pro1092Thr) rs768065626
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3275C>G (p.Pro1092Arg) rs587780830
NM_032043.3(BRIP1):c.3277C>G (p.Leu1093Val) rs876660638
NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe) rs876660638
NM_032043.3(BRIP1):c.3283T>C (p.Ser1095Pro) rs2061313248
NM_032043.3(BRIP1):c.3284C>T (p.Ser1095Phe) rs1479296707
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup) rs1603275271
NM_032043.3(BRIP1):c.328T>C (p.Tyr110His) rs1555617821
NM_032043.3(BRIP1):c.3290A>G (p.Glu1097Gly) rs876658746
NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser) rs1034545913
NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp) rs1361161166
NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)
NM_032043.3(BRIP1):c.3298G>C (p.Asp1100His) rs587781923
NM_032043.3(BRIP1):c.3298G>T (p.Asp1100Tyr) rs587781923
NM_032043.3(BRIP1):c.3299A>T (p.Asp1100Val) rs864622072
NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)
NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu) rs2061312470
NM_032043.3(BRIP1):c.3305A>G (p.Asp1102Gly) rs748140041
NM_032043.3(BRIP1):c.3307A>G (p.Ile1103Val) rs1555572700
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val) rs1567728360
NM_032043.3(BRIP1):c.3312A>T (p.Glu1104Asp) rs1555572697
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe) rs1603275236
NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile) rs1275343223
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys) rs1060501774
NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly) rs1060501742
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu) rs201790351
NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys) rs587780248
NM_032043.3(BRIP1):c.3332A>T (p.Glu1111Val) rs2061311057
NM_032043.3(BRIP1):c.3334G>A (p.Asp1112Asn) rs968860042
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu) rs369843642
NM_032043.3(BRIP1):c.3337A>C (p.Lys1113Gln)
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu) rs2061310712
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His) rs2144079516
NM_032043.3(BRIP1):c.3343T>A (p.Ser1115Thr)
NM_032043.3(BRIP1):c.3343T>C (p.Ser1115Pro) rs1567728281
NM_032043.3(BRIP1):c.3344C>A (p.Ser1115Tyr) rs1419933310
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys) rs1419933310
NM_032043.3(BRIP1):c.3344C>T (p.Ser1115Phe) rs1419933310
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu) rs1555572672
NM_032043.3(BRIP1):c.3352A>G (p.Asn1118Asp) rs2061310251
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser) rs1060501773
NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn) rs1555572663
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn) rs1555617813
NM_032043.3(BRIP1):c.3364G>C (p.Glu1122Gln)
NM_032043.3(BRIP1):c.3365A>G (p.Glu1122Gly) rs2144078743
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala) rs754056526
NM_032043.3(BRIP1):c.3368C>G (p.Thr1123Arg)
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly) rs1064793894
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) rs745344948
NM_032043.3(BRIP1):c.3378A>T (p.Glu1126Asp) rs145855459
NM_032043.3(BRIP1):c.3379G>C (p.Asp1127His) rs2144078261
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro) rs1555617812
NM_032043.3(BRIP1):c.3382G>A (p.Glu1128Lys) rs45552539
NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln) rs45552539
NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe) rs786202549
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr) rs1057522432
NM_032043.3(BRIP1):c.3390C>G (p.Ile1130Met) rs2061308845
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys) rs1567728145
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile) rs1555572645
NM_032043.3(BRIP1):c.3404A>G (p.Glu1135Gly) rs1235908208
NM_032043.3(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg) rs1603275121
NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe) rs1555572626
NM_032043.3(BRIP1):c.3407T>G (p.Leu1136Arg) rs2061308258
NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His) rs2061308195
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser) rs2145827137
NM_032043.3(BRIP1):c.3410_3411delinsGC (p.Tyr1137Cys)
NM_032043.3(BRIP1):c.3411_3412delinsCC (p.Asp1138His) rs1555572620
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr) rs1555572620
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.3413A>G (p.Asp1138Gly) rs1057518847
NM_032043.3(BRIP1):c.3415C>T (p.Pro1139Ser) rs1186451404
NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu) rs1555572613
NM_032043.3(BRIP1):c.341C>A (p.Pro114Gln) rs876658965
NM_032043.3(BRIP1):c.341C>T (p.Pro114Leu) rs876658965
NM_032043.3(BRIP1):c.3420dup (p.Asp1141fs)
NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala) rs1034551306
NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val) rs1034551306
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg) rs1279318199
NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn) rs1217932471
NM_032043.3(BRIP1):c.3428A>G (p.Asp1143Gly) rs2061307264
NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu) rs1315917374
NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys)
NM_032043.3(BRIP1):c.3430G>C (p.Glu1144Gln)
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu) rs786202247
NM_032043.3(BRIP1):c.3437A>G (p.Lys1146Arg) rs1567727955
NM_032043.3(BRIP1):c.3437A>T (p.Lys1146Ile) rs1567727955
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp) rs1258403817
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser) rs876659142
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly) rs2061306531
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly) rs1064796059
NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)
NM_032043.3(BRIP1):c.344C>A (p.Pro115His) rs1555617800
NM_032043.3(BRIP1):c.344C>T (p.Pro115Leu) rs1555617800
NM_032043.3(BRIP1):c.3451G>A (p.Glu1151Lys) rs1555572587
NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)
NM_032043.3(BRIP1):c.3458A>G (p.Asp1153Gly) rs1603275027
NM_032043.3(BRIP1):c.3461G>A (p.Arg1154Lys)
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr) rs1057522433
NM_032043.3(BRIP1):c.3466A>G (p.Asn1156Asp)
NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser) rs1603275008
NM_032043.3(BRIP1):c.3472T>A (p.Leu1158Met) rs1060504330
NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp) rs876659655
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr) rs368610199
NM_032043.3(BRIP1):c.3475G>C (p.Ala1159Pro) rs368610199
NM_032043.3(BRIP1):c.3475G>T (p.Ala1159Ser) rs368610199
NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp) rs2061305104
NM_032043.3(BRIP1):c.347C>T (p.Ser116Phe) rs748793974
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup) rs2061304922
NM_032043.3(BRIP1):c.3488A>G (p.Asp1163Gly) rs2061304985
NM_032043.3(BRIP1):c.3489_3490delinsCG (p.Cys1164Gly) rs2061304770
NM_032043.3(BRIP1):c.3493A>T (p.Ile1165Phe) rs771889454
NM_032043.3(BRIP1):c.3496T>G (p.Leu1166Val) rs2144073872
NM_032043.3(BRIP1):c.3497T>C (p.Leu1166Ser) rs2061304526
NM_032043.3(BRIP1):c.3499G>C (p.Ala1167Pro) rs1555572570
NM_032043.3(BRIP1):c.34G>A (p.Gly12Arg)
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr) rs749589266
NM_032043.3(BRIP1):c.3504del (p.Asp1169fs)
NM_032043.3(BRIP1):c.3506A>C (p.Asp1169Ala) rs2061304201
NM_032043.3(BRIP1):c.3507C>G (p.Asp1169Glu) rs375741316
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val) rs587782552
NM_032043.3(BRIP1):c.3508del (p.Leu1170fs) rs2144073489
NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His)
NM_032043.3(BRIP1):c.3512T>C (p.Phe1171Ser) rs878855155
NM_032043.3(BRIP1):c.3513del (p.Phe1171fs)
NM_032043.3(BRIP1):c.3517A>C (p.Ile1173Leu) rs2061303840
NM_032043.3(BRIP1):c.3520A>G (p.Arg1174Gly) rs2144073209
NM_032043.3(BRIP1):c.3521G>A (p.Arg1174Lys)
NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val) rs2061303537
NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
NM_032043.3(BRIP1):c.3530A>G (p.Lys1177Arg)
NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del) rs1567727749
NM_032043.3(BRIP1):c.3532G>A (p.Glu1178Lys) rs876661115
NM_032043.3(BRIP1):c.3532G>C (p.Glu1178Gln) rs876661115
NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)
NM_032043.3(BRIP1):c.3535G>A (p.Val1179Ile)
NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
NM_032043.3(BRIP1):c.3536_3538del (p.Val1179del) rs1603274921
NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His) rs2061303001
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr) rs1555572535
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
NM_032043.3(BRIP1):c.3553G>C (p.Val1185Leu) rs1567727691
NM_032043.3(BRIP1):c.3553G>T (p.Val1185Leu) rs1567727691
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val) rs1603274878
NM_032043.3(BRIP1):c.3562G>A (p.Glu1188Lys) rs786201962
NM_032043.3(BRIP1):c.3563A>G (p.Glu1188Gly) rs2061301893
NM_032043.3(BRIP1):c.3565G>A (p.Asp1189Asn)
NM_032043.3(BRIP1):c.3569G>C (p.Cys1190Ser) rs2061301683
NM_032043.3(BRIP1):c.3569_3570delinsCT (p.Cys1190Ser)
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser) rs889877039
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr) rs2061301543
NM_032043.3(BRIP1):c.3575A>G (p.Asp1192Gly)
NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys) rs1368343911
NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg) rs1368343911
NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys) rs786202477
NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met) rs2144071092
NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs) rs1555572519
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu) rs587781677
NM_032043.3(BRIP1):c.3592A>T (p.Ile1198Phe) rs2061300867
NM_032043.3(BRIP1):c.3594T>G (p.Ile1198Met) rs1603274842
NM_032043.3(BRIP1):c.3595C>G (p.Leu1199Val) rs876659839
NM_032043.3(BRIP1):c.3597_3598delinsCA (p.His1200Asn)
NM_032043.3(BRIP1):c.3599A>G (p.His1200Arg) rs730881628
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp) rs730881637
NM_032043.3(BRIP1):c.359G>T (p.Gly120Val)
NM_032043.3(BRIP1):c.35G>C (p.Gly12Ala) rs1555618733
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr) rs2061300384
NM_032043.3(BRIP1):c.3605A>C (p.Glu1202Ala) rs776010326
NM_032043.3(BRIP1):c.3607del (p.Glu1203fs) rs2144070111
NM_032043.3(BRIP1):c.3608A>G (p.Glu1203Gly) rs1403310555
NM_032043.3(BRIP1):c.3613A>G (p.Lys1205Glu)
NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn) rs768156067
NM_032043.3(BRIP1):c.3616A>G (p.Ile1206Val)
NM_032043.3(BRIP1):c.3617T>C (p.Ile1206Thr)
NM_032043.3(BRIP1):c.3618T>G (p.Ile1206Met) rs2061299577
NM_032043.3(BRIP1):c.3619G>A (p.Asp1207Asn)
NM_032043.3(BRIP1):c.3622G>A (p.Asp1208Asn) rs760589795
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His) rs760589795
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val) rs1603274780
NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly) rs112214651
NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del) rs1064794200
NM_032043.3(BRIP1):c.362C>T (p.Thr121Ile) rs777630298
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser) rs1567727439
NM_032043.3(BRIP1):c.3632del (p.Gly1211fs) rs2144069324
NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp) rs2144069259
NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)
NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)
NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn) rs2061298986
NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile) rs1567727417
NM_032043.3(BRIP1):c.364T>G (p.Ser122Ala) rs1555617788
NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His) rs1567727404
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs) rs2061298543
NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys) rs1555572476
NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter) rs1555572476
NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly) rs2061298409
NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val) rs2061298344
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg) rs778805688
NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln) rs2144068196
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs) rs752586524
NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val) rs770175142
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs) rs2061297923
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr) rs2144067914
NM_032043.3(BRIP1):c.3676del (p.Thr1226fs) rs2144067889
NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp) rs2061297833
NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg) rs755069935
NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)
NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)
NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)
NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr) rs1157058742
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr) rs780578438
NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg) rs780578438
NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)
NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg) rs1555572446
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu) rs878855156
NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys) rs587778137
NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu) rs2061296981
NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu) rs1567727245
NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser) rs1060501771
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu) rs1265133595
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro) rs45617634
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr) rs587781819
NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe) rs587781819
NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr) rs1192747697
NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del) rs1603274664
NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro) rs587781886
NM_032043.3(BRIP1):c.371C>A (p.Thr124Asn) rs2145826085
NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs) rs1491231712
NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp) rs765545033
NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)
NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val) rs765545033
NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu) rs761468878
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys) rs1260819959
NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs) rs1555572407
NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile) rs753516000
NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu) rs876660074
NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp) rs2144065748
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu) rs1567727102
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs) rs2061295225
NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs) rs1555572410
NM_032043.3(BRIP1):c.374G>C (p.Cys125Ser) rs876660020
NM_032043.3(BRIP1):c.374G>T (p.Cys125Phe) rs876660020
NM_032043.3(BRIP1):c.378A>G (p.Gln126=) rs2145825894
NM_032043.3(BRIP1):c.379+5T>A rs1603366174
NM_032043.3(BRIP1):c.37G>A (p.Val13Met) rs1488264110
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
NM_032043.3(BRIP1):c.380-14A>G
NM_032043.3(BRIP1):c.380-18T>A
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe) rs1603362723
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser) rs1555616229
NM_032043.3(BRIP1):c.386C>A (p.Pro129His) rs587780831
NM_032043.3(BRIP1):c.386C>G (p.Pro129Arg) rs587780831
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys) rs876658860
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg) rs2078781626
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn) rs2078781577
NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)
NM_032043.3(BRIP1):c.396C>G (p.Thr132=)
NM_032043.3(BRIP1):c.396_398dup (p.Thr133_Leu134insThr)
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala) rs764256720
NM_032043.3(BRIP1):c.398C>G (p.Thr133Ser)
NM_032043.3(BRIP1):c.401T>C (p.Leu134Pro)
NM_032043.3(BRIP1):c.403G>T (p.Ala135Ser)
NM_032043.3(BRIP1):c.404C>G (p.Ala135Gly)
NM_032043.3(BRIP1):c.404C>T (p.Ala135Val) rs1295736478
NM_032043.3(BRIP1):c.407C>A (p.Ala136Glu)
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu) rs878855157
NM_032043.3(BRIP1):c.40A>G (p.Lys14Glu) rs1555618727
NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro)
NM_032043.3(BRIP1):c.416C>T (p.Ser139Phe) rs1567868653
NM_032043.3(BRIP1):c.418G>A (p.Ala140Thr) rs2078780535
NM_032043.3(BRIP1):c.423G>C (p.Lys141Asn) rs1603362663
NM_032043.3(BRIP1):c.427_428delinsGG (p.Gln143Gly)
NM_032043.3(BRIP1):c.428A>C (p.Gln143Pro) rs1603362656
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg) rs1603362656
NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu)
NM_032043.3(BRIP1):c.42G>C (p.Lys14Asn) rs2078972704
NM_032043.3(BRIP1):c.42G>T (p.Lys14Asn) rs2078972704
NM_032043.3(BRIP1):c.430G>T (p.Ala144Ser)
NM_032043.3(BRIP1):c.431C>A (p.Ala144Glu) rs1555616182
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val) rs1567868598
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met) rs886038702
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.3(BRIP1):c.43A>G (p.Ile15Val) rs1567878177
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys) rs1243511600
NM_032043.3(BRIP1):c.445G>A (p.Asp149Asn)
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly) rs770613242
NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser) rs1555616165
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly) rs2145763474
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu) rs587781786
NM_032043.3(BRIP1):c.465A>G (p.Gln155=) rs876659453
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu) rs876659373
NM_032043.3(BRIP1):c.467T>C (p.Val156Ala) rs1567868429
NM_032043.3(BRIP1):c.469G>A (p.Glu157Lys) rs2078778379
NM_032043.3(BRIP1):c.469G>C (p.Glu157Gln) rs2078778379
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg) rs769364081
NM_032043.3(BRIP1):c.475A>C (p.Lys159Gln) rs2078778116
NM_032043.3(BRIP1):c.475A>G (p.Lys159Glu) rs2078778116
NM_032043.3(BRIP1):c.476A>G (p.Lys159Arg) rs1603362575
NM_032043.3(BRIP1):c.477A>C (p.Lys159Asn) rs2078778020
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile) rs1330277587
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val) rs786203916
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln) rs61757643
NM_032043.3(BRIP1):c.485G>C (p.Arg162Pro) rs61757643
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.3(BRIP1):c.487C>G (p.Pro163Ala) rs1064795902
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser) rs1064795902
NM_032043.3(BRIP1):c.488C>A (p.Pro163His) rs2145761987
NM_032043.3(BRIP1):c.488C>T (p.Pro163Leu) rs2145761987
NM_032043.3(BRIP1):c.495A>C (p.Glu165Asp) rs780024960
NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala) rs1060501738
NM_032043.3(BRIP1):c.49T>C (p.Phe17Leu) rs1603368465
NM_032043.3(BRIP1):c.500C>A (p.Thr167Lys) rs758218234
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile) rs758218234
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys) rs748211848
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro) rs2078776978
NM_032043.3(BRIP1):c.507+3A>G
NM_032043.3(BRIP1):c.507+6C>T rs2078776834
NM_032043.3(BRIP1):c.507G>T (p.Gln169His) rs876660937
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val) rs1603361718
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu) rs1060501765
NM_032043.3(BRIP1):c.518G>C (p.Arg173Pro) rs761432927
NM_032043.3(BRIP1):c.520C>T (p.His174Tyr) rs776248182
NM_032043.3(BRIP1):c.524G>A (p.Cys175Tyr) rs2145744852
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val) rs746963627
NM_032043.3(BRIP1):c.527T>G (p.Phe176Cys) rs2078748560
NM_032043.3(BRIP1):c.529G>C (p.Gly177Arg) rs2078748501
NM_032043.3(BRIP1):c.52C>G (p.Pro18Ala)
NM_032043.3(BRIP1):c.52C>T (p.Pro18Ser) rs1555618724
NM_032043.3(BRIP1):c.530G>A (p.Gly177Glu) rs2078748443
NM_032043.3(BRIP1):c.532A>C (p.Thr178Pro)
NM_032043.3(BRIP1):c.533C>G (p.Thr178Arg) rs876658780
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile) rs876658780
NM_032043.3(BRIP1):c.536_538dup (p.Glu179dup) rs1567866837
NM_032043.3(BRIP1):c.538G>A (p.Val180Ile) rs1603361670
NM_032043.3(BRIP1):c.538G>C (p.Val180Leu)
NM_032043.3(BRIP1):c.542A>G (p.His181Arg) rs2078748128
NM_032043.3(BRIP1):c.543C>A (p.His181Gln)
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser) rs2145744130
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe) rs1060504335
NM_032043.3(BRIP1):c.54T>C (p.Pro18=) rs886053216
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn) rs201047375
NM_032043.3(BRIP1):c.556A>C (p.Lys186Gln) rs730881624
NM_032043.3(BRIP1):c.559G>T (p.Val187Phe) rs876659064
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala) rs2078747614
NM_032043.3(BRIP1):c.566C>T (p.Ser189Leu) rs1555615763
NM_032043.3(BRIP1):c.568G>A (p.Gly190Arg)
NM_032043.3(BRIP1):c.572A>G (p.Lys191Arg) rs748268716
NM_032043.3(BRIP1):c.574A>C (p.Thr192Pro) rs2078747261
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn) rs1429063662
NM_032043.3(BRIP1):c.582A>T (p.Lys194Asn)
NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro) rs530897769
NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr) rs533184563
NM_032043.3(BRIP1):c.590C>G (p.Ser197Cys) rs533184563
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
NM_032043.3(BRIP1):c.597G>A (p.Leu199=) rs2078746387
NM_032043.3(BRIP1):c.598G>A (p.Glu200Lys) rs2078746295
NM_032043.3(BRIP1):c.599A>G (p.Glu200Gly) rs1555615732
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe) rs751194347
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg) rs1555615729
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val) rs778275257
NM_032043.3(BRIP1):c.604A>T (p.Ile202Leu) rs778275257
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser) rs2078745913
NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala) rs761401027
NM_032043.3(BRIP1):c.611_613del (p.Ser204del) rs1060501731
NM_032043.3(BRIP1):c.613T>C (p.Phe205Leu) rs1603361561
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val) rs1603361561
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu) rs2145741807
NM_032043.3(BRIP1):c.625A>G (p.Lys209Glu) rs2078745221
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg) rs748912293
NM_032043.3(BRIP1):c.627+3A>G rs777434654
NM_032043.3(BRIP1):c.627+6T>C
NM_032043.3(BRIP1):c.627A>G (p.Lys209=) rs1555615717
NM_032043.3(BRIP1):c.628-2dup
NM_032043.3(BRIP1):c.628-3C>T
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.3(BRIP1):c.629C>T (p.Pro210Leu) rs140097800
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp) rs1603368436
NM_032043.3(BRIP1):c.62C>T (p.Ala21Val) rs1603368436
NM_032043.3(BRIP1):c.631C>T (p.Pro211Ser) rs2078117905
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu) rs780026145
NM_032043.3(BRIP1):c.634G>A (p.Gly212Ser) rs1555609387
NM_032043.3(BRIP1):c.634G>C (p.Gly212Arg) rs1555609387
NM_032043.3(BRIP1):c.638A>C (p.His213Pro) rs376760085
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr) rs12947398
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe) rs12947398
NM_032043.3(BRIP1):c.645T>G (p.Ser215=)
NM_032043.3(BRIP1):c.646A>G (p.Arg216Gly) rs2078116990
NM_032043.3(BRIP1):c.648G>A (p.Arg216=)
NM_032043.3(BRIP1):c.649T>A (p.Cys217Ser) rs2145422887
NM_032043.3(BRIP1):c.64T>A (p.Tyr22Asn) rs876659008
NM_032043.3(BRIP1):c.650G>A (p.Cys217Tyr) rs587782156
NM_032043.3(BRIP1):c.650G>T (p.Cys217Phe) rs587782156
NM_032043.3(BRIP1):c.653G>T (p.Cys218Phe)
NM_032043.3(BRIP1):c.653GTT[1] (p.Cys219del) rs1555609353
NM_032043.3(BRIP1):c.654T>G (p.Cys218Trp)
NM_032043.3(BRIP1):c.656G>A (p.Cys219Tyr) rs587782238
NM_032043.3(BRIP1):c.658T>C (p.Ser220Pro) rs1555609351
NM_032043.3(BRIP1):c.65A>C (p.Tyr22Ser)
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro) rs777618772
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
NM_032043.3(BRIP1):c.670G>C (p.Gly224Arg) rs1567838486
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn) rs2078115717
NM_032043.3(BRIP1):c.67C>A (p.Pro23Thr) rs1603368425
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala) rs1603368425
NM_032043.3(BRIP1):c.683A>G (p.Glu228Gly)
NM_032043.3(BRIP1):c.684G>T (p.Glu228Asp) rs876659909
NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro) rs2145421239
NM_032043.3(BRIP1):c.688T>C (p.Ser230Pro) rs2145421148
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
NM_032043.3(BRIP1):c.694A>C (p.Thr232Pro) rs2078115132
NM_032043.3(BRIP1):c.695C>G (p.Thr232Ser) rs762781085
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val) rs769535320
NM_032043.3(BRIP1):c.700A>C (p.Lys234Gln) rs1060501780
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu) rs1060501780
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del) rs876659379
NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr) rs587780834
NM_032043.3(BRIP1):c.706G>C (p.Asp236His) rs1555609300
NM_032043.3(BRIP1):c.707A>T (p.Asp236Val) rs1567838306
NM_032043.3(BRIP1):c.710A>G (p.His237Arg) rs1567838288
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala) rs1490001091
NM_032043.3(BRIP1):c.719A>C (p.Lys240Thr) rs1350322711
NM_032043.3(BRIP1):c.719A>T (p.Lys240Ile) rs1350322711
NM_032043.3(BRIP1):c.71C>T (p.Ser24Leu) rs1567878087
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg) rs876660647
NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn)
NM_032043.3(BRIP1):c.726_734del (p.Pro244_Ile246del)
NM_032043.3(BRIP1):c.727A>T (p.Ile243Leu) rs2078113517
NM_032043.3(BRIP1):c.730C>G (p.Pro244Ala)
NM_032043.3(BRIP1):c.730_738del (p.Pro244_Ile246del) rs1603346861
NM_032043.3(BRIP1):c.731C>G (p.Pro244Arg) rs2145419213
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg) rs1064795594
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
NM_032043.3(BRIP1):c.736A>C (p.Ile246Leu) rs376893571
NM_032043.3(BRIP1):c.736A>T (p.Ile246Leu) rs376893571
NM_032043.3(BRIP1):c.737T>G (p.Ile246Arg)
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg) rs2145864048
NM_032043.3(BRIP1):c.743T>C (p.Phe248Ser) rs2078112912
NM_032043.3(BRIP1):c.746G>A (p.Gly249Glu) rs2078112856
NM_032043.3(BRIP1):c.748A>T (p.Thr250Ser) rs2078112756
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg) rs1555609275
NM_032043.3(BRIP1):c.752G>C (p.Arg251Pro) rs780834054
NM_032043.3(BRIP1):c.754A>C (p.Thr252Pro)
NM_032043.3(BRIP1):c.754A>G (p.Thr252Ala) rs1567838131
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile) rs1567838124
NM_032043.3(BRIP1):c.757C>G (p.His253Asp) rs2078112338
NM_032043.3(BRIP1):c.758A>G (p.His253Arg) rs2078112284
NM_032043.3(BRIP1):c.759C>G (p.His253Gln)
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg) rs2145417925
NM_032043.3(BRIP1):c.764A>C (p.Gln255Pro) rs1567838107
NM_032043.3(BRIP1):c.764A>G (p.Gln255Arg) rs1567838107
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val) rs2145417649
NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr) rs754515912
NM_032043.3(BRIP1):c.769_777dup (p.Ala257_Ile259dup) rs1603346813
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val) rs1555609260
NM_032043.3(BRIP1):c.773A>C (p.Gln258Pro) rs1567838078
NM_032043.3(BRIP1):c.775A>G (p.Ile259Val) rs2145417254
NM_032043.3(BRIP1):c.775A>T (p.Ile259Phe)
NM_032043.3(BRIP1):c.77T>C (p.Leu26Pro) rs1603368414
NM_032043.3(BRIP1):c.77T>G (p.Leu26Arg) rs1603368414
NM_032043.3(BRIP1):c.781A>G (p.Arg261Gly) rs2078111313
NM_032043.3(BRIP1):c.783A>T (p.Arg261Ser) rs1441703380
NM_032043.3(BRIP1):c.784G>A (p.Glu262Lys) rs2145416868
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala) rs876658283
NM_032043.3(BRIP1):c.786G>T (p.Glu262Asp)
NM_032043.3(BRIP1):c.787C>G (p.Leu263Val) rs1060501776
NM_032043.3(BRIP1):c.788T>C (p.Leu263Pro)
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly) rs28997569
NM_032043.3(BRIP1):c.793A>G (p.Arg265Gly) rs876659650
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser) rs61754143
NM_032043.3(BRIP1):c.800C>T (p.Ala267Val) rs730881631
NM_032043.3(BRIP1):c.803A>G (p.Tyr268Cys) rs2078110465
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro) rs2078110345
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu) rs1412610651
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg) rs1401241698
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
NM_032043.3(BRIP1):c.817A>C (p.Met273Leu) rs587781797
NM_032043.3(BRIP1):c.817A>G (p.Met273Val) rs587781797
NM_032043.3(BRIP1):c.819_824del (p.Met273_Thr274del) rs2145414960
NM_032043.3(BRIP1):c.823A>C (p.Ile275Leu)
NM_032043.3(BRIP1):c.823A>T (p.Ile275Phe) rs587781425
NM_032043.3(BRIP1):c.826C>T (p.Leu276Phe)
NM_032043.3(BRIP1):c.82A>G (p.Met28Val) rs1330147176
NM_032043.3(BRIP1):c.82A>T (p.Met28Leu) rs1330147176
NM_032043.3(BRIP1):c.832A>C (p.Ser278Arg) rs1567837876
NM_032043.3(BRIP1):c.832A>G (p.Ser278Gly) rs1567837876
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
NM_032043.3(BRIP1):c.837G>C (p.Arg279Ser) rs759584091
NM_032043.3(BRIP1):c.837G>T (p.Arg279Ser) rs759584091
NM_032043.3(BRIP1):c.838G>T (p.Asp280Tyr) rs2078109366
NM_032043.3(BRIP1):c.839A>T (p.Asp280Val)
NM_032043.3(BRIP1):c.83T>A (p.Met28Lys) rs786202674
NM_032043.3(BRIP1):c.841C>A (p.His281Asn) rs1064795442
NM_032043.3(BRIP1):c.842A>C (p.His281Pro) rs1603346710
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile) rs45624635
NM_032043.3(BRIP1):c.847T>C (p.Cys283Arg) rs1555609186
NM_032043.3(BRIP1):c.847T>G (p.Cys283Gly) rs1555609186
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr) rs771096783
NM_032043.3(BRIP1):c.848G>T (p.Cys283Phe) rs771096783
NM_032043.3(BRIP1):c.851T>C (p.Val284Ala)
NM_032043.3(BRIP1):c.854A>C (p.His285Pro) rs141055990
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser) rs770289817
NM_032043.3(BRIP1):c.857C>G (p.Pro286Arg) rs2078108519
NM_032043.3(BRIP1):c.85A>G (p.Met29Val) rs2078971287
NM_032043.3(BRIP1):c.861G>C (p.Glu287Asp) rs1603346684
NM_032043.3(BRIP1):c.863T>C (p.Val288Ala) rs1375475281
NM_032043.3(BRIP1):c.865G>A (p.Val289Ile) rs1567837768
NM_032043.3(BRIP1):c.865G>C (p.Val289Leu) rs1567837768
NM_032043.3(BRIP1):c.866T>G (p.Val289Gly) rs2078108215
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser) rs145601931
NM_032043.3(BRIP1):c.869G>C (p.Gly290Ala) rs148556781
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile) rs769585673
NM_032043.3(BRIP1):c.886G>A (p.Glu296Lys) rs876660125
NM_032043.3(BRIP1):c.887A>C (p.Glu296Ala) rs878855158
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp) rs876658249
NM_032043.3(BRIP1):c.889A>C (p.Lys297Gln) rs876658528
NM_032043.3(BRIP1):c.88A>C (p.Asn30His)
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr) rs28997570
NM_032043.3(BRIP1):c.890A>T (p.Lys297Met)
NM_032043.3(BRIP1):c.892T>C (p.Cys298Arg) rs1555609145
NM_032043.3(BRIP1):c.893G>A (p.Cys298Tyr)
NM_032043.3(BRIP1):c.894C>G (p.Cys298Trp)
NM_032043.3(BRIP1):c.894C>T (p.Cys298=) rs2078107086
NM_032043.3(BRIP1):c.895A>C (p.Met299Leu)
NM_032043.3(BRIP1):c.895A>G (p.Met299Val) rs1242769076
NM_032043.3(BRIP1):c.896T>C (p.Met299Thr) rs2078106961
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile) rs137852985
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter) rs1603368491
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser) rs750376292
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
NM_032043.3(BRIP1):c.907G>T (p.Asp303Tyr) rs2145410870
NM_032043.3(BRIP1):c.908A>G (p.Asp303Gly) rs1555609130
NM_032043.3(BRIP1):c.910G>A (p.Gly304Arg) rs1567837588
NM_032043.3(BRIP1):c.911G>A (p.Gly304Glu) rs1459305482
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser) rs1567837564
NM_032043.3(BRIP1):c.918+5G>A rs2078106072
NM_032043.3(BRIP1):c.919-10T>A
NM_032043.3(BRIP1):c.919-3T>C rs2077994124
NM_032043.3(BRIP1):c.920G>A (p.Gly307Glu) rs1603343427
NM_032043.3(BRIP1):c.920G>C (p.Gly307Ala) rs1603343427
NM_032043.3(BRIP1):c.926C>A (p.Ser309Tyr) rs2077993753
NM_032043.3(BRIP1):c.926C>T (p.Ser309Phe) rs2077993753
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr) rs1567832184
NM_032043.3(BRIP1):c.929G>C (p.Cys310Ser) rs1567832184
NM_032043.3(BRIP1):c.929_931del (p.Cys310del) rs2145342477
NM_032043.3(BRIP1):c.93+3A>C
NM_032043.3(BRIP1):c.93+4A>T
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032043.3(BRIP1):c.93+6T>C rs2078970954
NM_032043.3(BRIP1):c.93+8T>G rs1567878012
NM_032043.3(BRIP1):c.931T>C (p.Tyr311His) rs1603343412
NM_032043.3(BRIP1):c.932A>T (p.Tyr311Phe) rs587782731
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile) rs2145342258
NM_032043.3(BRIP1):c.93T>C (p.Ser31=) rs1555618697
NM_032043.3(BRIP1):c.94-5C>G rs2078952191
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
NM_032043.3(BRIP1):c.941A>G (p.His314Arg) rs112076926
NM_032043.3(BRIP1):c.944G>A (p.Gly315Glu) rs867548960
NM_032043.3(BRIP1):c.944G>T (p.Gly315Val) rs867548960
NM_032043.3(BRIP1):c.945A>G (p.Gly315=)
NM_032043.3(BRIP1):c.949C>G (p.His317Asp)
NM_032043.3(BRIP1):c.94A>T (p.Ile32Phe) rs776386693
NM_032043.3(BRIP1):c.953A>G (p.Lys318Arg) rs2077992906
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly) rs2145341128
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly) rs2077992652
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg) rs1567832102
NM_032043.3(BRIP1):c.967C>T (p.His323Tyr) rs2077992477
NM_032043.3(BRIP1):c.969C>A (p.His323Gln) rs1555607775
NM_032043.3(BRIP1):c.969C>G (p.His323Gln) rs1555607775
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe) rs771630777
NM_032043.3(BRIP1):c.976C>G (p.Gln326Glu) rs1555607768
NM_032043.3(BRIP1):c.977A>G (p.Gln326Arg) rs1064794046
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile) rs2145339793
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser) rs876659057
NM_032043.3(BRIP1):c.986A>G (p.Gln329Arg) rs778863018
NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile) rs587780252
NM_032043.3(BRIP1):c.995G>A (p.Cys332Tyr) rs876660521
NM_032043.3(BRIP1):c.997A>G (p.Lys333Glu) rs757196702
NM_032043.3(BRIP1):c.998A>G (p.Lys333Arg) rs2145338700
NM_032444.4(SLX4):c.*298_*301del rs566716185
NM_032444.4(SLX4):c.*469A>T rs868278470
NM_032444.4(SLX4):c.*493G>T rs530681898
NM_032444.4(SLX4):c.*54A>C rs1596514118
NM_032444.4(SLX4):c.*82C>T rs2040444401
NM_032444.4(SLX4):c.*944A>G rs1032936956
NM_032444.4(SLX4):c.-143_-140del rs779611690
NM_032444.4(SLX4):c.-210G>A rs747849749
NM_032444.4(SLX4):c.-211dup rs149138178
NM_032444.4(SLX4):c.-614G>C rs2040876181
NM_032444.4(SLX4):c.-631G>A rs1430818218
NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln) rs200363140
NM_032444.4(SLX4):c.1018G>A (p.Gly340Arg)
NM_032444.4(SLX4):c.1019G>C (p.Gly340Ala)
NM_032444.4(SLX4):c.101A>T (p.Gln34Leu) rs1567178416
NM_032444.4(SLX4):c.1025C>T (p.Pro342Leu)
NM_032444.4(SLX4):c.103C>T (p.Pro35Ser) rs2040816588
NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)
NM_032444.4(SLX4):c.1055A>G (p.His352Arg)
NM_032444.4(SLX4):c.1059G>C (p.Leu353Phe) rs1431335924
NM_032444.4(SLX4):c.1062G>T (p.Lys354Asn) rs2151134083
NM_032444.4(SLX4):c.1076A>T (p.Lys359Met) rs2151134068
NM_032444.4(SLX4):c.107A>T (p.Glu36Val) rs370082083
NM_032444.4(SLX4):c.1080G>A (p.Met360Ile)
NM_032444.4(SLX4):c.1083G>C (p.Glu361Asp) rs1361684518
NM_032444.4(SLX4):c.1084G>C (p.Val362Leu) rs2040721687
NM_032444.4(SLX4):c.1090C>T (p.Pro364Ser) rs775276756
NM_032444.4(SLX4):c.1091C>A (p.Pro364His)
NM_032444.4(SLX4):c.1094A>G (p.Gln365Arg) rs1243083910
NM_032444.4(SLX4):c.1094A>T (p.Gln365Leu)
NM_032444.4(SLX4):c.1097_1098delinsAA (p.Leu366Gln) rs2151134024
NM_032444.4(SLX4):c.1108G>C (p.Ala370Pro)
NM_032444.4(SLX4):c.1110T>C (p.Ala370=) rs886051981
NM_032444.4(SLX4):c.1114C>T (p.Arg372Trp) rs781393524
NM_032444.4(SLX4):c.1115G>T (p.Arg372Leu) rs372956623
NM_032444.4(SLX4):c.1123A>C (p.Thr375Pro) rs2151133974
NM_032444.4(SLX4):c.1130A>G (p.Gln377Arg)
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del) rs938490986
NM_032444.4(SLX4):c.1142G>A (p.Ser381Asn) rs2040720721
NM_032444.4(SLX4):c.1151_1152inv (p.Pro384Leu)
NM_032444.4(SLX4):c.1164-9G>A rs2040686112
NM_032444.4(SLX4):c.1175A>C (p.His392Pro) rs2151132152
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val) rs1596528058
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro) rs200030312
NM_032444.4(SLX4):c.1195A>G (p.Arg399Gly) rs2040685339
NM_032444.4(SLX4):c.1207_1208delinsCC (p.Ser403Pro)
NM_032444.4(SLX4):c.1212G>C (p.Lys404Asn)
NM_032444.4(SLX4):c.1226A>G (p.Lys409Arg) rs2151132042
NM_032444.4(SLX4):c.1237G>C (p.Val413Leu)
NM_032444.4(SLX4):c.1246G>A (p.Ala416Thr) rs1273526453
NM_032444.4(SLX4):c.1250C>T (p.Pro417Leu)
NM_032444.4(SLX4):c.1259A>G (p.Asp420Gly) rs1596527931
NM_032444.4(SLX4):c.1274T>C (p.Met425Thr)
NM_032444.4(SLX4):c.1276G>T (p.Ala426Ser)
NM_032444.4(SLX4):c.1283C>T (p.Ser428Phe)
NM_032444.4(SLX4):c.1286G>A (p.Arg429Gln)
NM_032444.4(SLX4):c.1286G>T (p.Arg429Leu)
NM_032444.4(SLX4):c.1298A>G (p.Glu433Gly) rs2151131871
NM_032444.4(SLX4):c.1302G>A (p.Pro434=)
NM_032444.4(SLX4):c.1322T>A (p.Leu441His) rs2040681820
NM_032444.4(SLX4):c.1322T>C (p.Leu441Pro)
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr) rs886051979
NM_032444.4(SLX4):c.1331A>C (p.Glu444Ala) rs2040681362
NM_032444.4(SLX4):c.1334G>A (p.Ser445Asn) rs2151131780
NM_032444.4(SLX4):c.1352T>A (p.Ile451Lys) rs1380174760
NM_032444.4(SLX4):c.1366+16A>T
NM_032444.4(SLX4):c.1366+4T>C
NM_032444.4(SLX4):c.1366+6T>C rs756854257
NM_032444.4(SLX4):c.1373A>G (p.Lys458Arg)
NM_032444.4(SLX4):c.1379G>T (p.Arg460Leu) rs369994733
NM_032444.4(SLX4):c.1390C>A (p.Pro464Thr) rs2040679198
NM_032444.4(SLX4):c.1396G>A (p.Val466Ile)
NM_032444.4(SLX4):c.139T>G (p.Ser47Ala)
NM_032444.4(SLX4):c.1400C>A (p.Ser467Tyr)
NM_032444.4(SLX4):c.1400C>T (p.Ser467Phe)
NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr) rs763833617
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser) rs763833617
NM_032444.4(SLX4):c.1421A>G (p.Gln474Arg)
NM_032444.4(SLX4):c.1438G>A (p.Gly480Ser) rs2151131486
NM_032444.4(SLX4):c.1444C>G (p.Gln482Glu) rs1567174047
NM_032444.4(SLX4):c.1448T>C (p.Ile483Thr)
NM_032444.4(SLX4):c.1450G>A (p.Glu484Lys)
NM_032444.4(SLX4):c.1475C>G (p.Ser492Cys)
NM_032444.4(SLX4):c.1498A>C (p.Thr500Pro)
NM_032444.4(SLX4):c.1499C>A (p.Thr500Lys)
NM_032444.4(SLX4):c.1507C>T (p.Leu503Phe)
NM_032444.4(SLX4):c.1546G>T (p.Ala516Ser) rs1260563876
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp) rs772562892
NM_032444.4(SLX4):c.1553A>G (p.Gln518Arg)
NM_032444.4(SLX4):c.1557TCC[2] (p.Pro523del) rs761510940
NM_032444.4(SLX4):c.1559C>G (p.Pro520Arg)
NM_032444.4(SLX4):c.1568C>G (p.Pro523Arg) rs2040675640
NM_032444.4(SLX4):c.1571A>T (p.Glu524Val)
NM_032444.4(SLX4):c.1594G>A (p.Glu532Lys) rs2040675047
NM_032444.4(SLX4):c.1596G>C (p.Glu532Asp) rs2151131185
NM_032444.4(SLX4):c.1598G>T (p.Gly533Val) rs369243098
NM_032444.4(SLX4):c.1615G>A (p.Ala539Thr) rs772612094
NM_032444.4(SLX4):c.1629_1630delinsAC (p.Asp544His) rs2040674138
NM_032444.4(SLX4):c.1643C>G (p.Ala548Gly)
NM_032444.4(SLX4):c.1646G>C (p.Arg549Thr)
NM_032444.4(SLX4):c.1655C>T (p.Pro552Leu)
NM_032444.4(SLX4):c.1663G>A (p.Val555Met) rs763869769
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1673G>T (p.Arg558Leu)
NM_032444.4(SLX4):c.1683+20C>T rs776626195
NM_032444.4(SLX4):c.1692G>A (p.Met564Ile) rs2151130279
NM_032444.4(SLX4):c.1699C>T (p.Pro567Ser) rs765739226
NM_032444.4(SLX4):c.16A>T (p.Asn6Tyr) rs1420004804
NM_032444.4(SLX4):c.1705C>T (p.Pro569Ser)
NM_032444.4(SLX4):c.1720C>G (p.Pro574Ala) rs2040659325
NM_032444.4(SLX4):c.1738A>G (p.Ser580Gly)
NM_032444.4(SLX4):c.1748G>A (p.Arg583Lys) rs750768695
NM_032444.4(SLX4):c.1748G>C (p.Arg583Thr)
NM_032444.4(SLX4):c.1759C>T (p.Leu587Phe)
NM_032444.4(SLX4):c.1766G>T (p.Gly589Val)
NM_032444.4(SLX4):c.1790C>G (p.Ser597Cys)
NM_032444.4(SLX4):c.1796G>A (p.Gly599Asp)
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln) rs749277750
NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu) rs749277750
NM_032444.4(SLX4):c.1808C>G (p.Ser603Trp)
NM_032444.4(SLX4):c.1824G>T (p.Glu608Asp) rs1028896815
NM_032444.4(SLX4):c.1844T>C (p.Leu615Pro)
NM_032444.4(SLX4):c.1880C>T (p.Pro627Leu) rs774683778
NM_032444.4(SLX4):c.1892G>C (p.Ser631Thr) rs2151129871
NM_032444.4(SLX4):c.1893T>G (p.Ser631Arg)
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032444.4(SLX4):c.1904C>A (p.Ala635Asp)
NM_032444.4(SLX4):c.1913A>C (p.Glu638Ala)
NM_032444.4(SLX4):c.1917G>T (p.Gly639=)
NM_032444.4(SLX4):c.1925-3C>T rs1567172965
NM_032444.4(SLX4):c.1928T>C (p.Leu643Ser) rs2151129378
NM_032444.4(SLX4):c.192A>C (p.Lys64Asn) rs756720856
NM_032444.4(SLX4):c.1948C>T (p.Leu650Phe)
NM_032444.4(SLX4):c.1964T>C (p.Phe655Ser) rs1567172921
NM_032444.4(SLX4):c.1969G>T (p.Val657Leu)
NM_032444.4(SLX4):c.1991C>A (p.Pro664Gln)
NM_032444.4(SLX4):c.2002G>A (p.Gly668Ser)
NM_032444.4(SLX4):c.2013+5G>T
NM_032444.4(SLX4):c.2013+6A>C rs2151129261
NM_032444.4(SLX4):c.2014-3C>T
NM_032444.4(SLX4):c.2014C>T (p.Leu672Phe)
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg) rs767473953
NM_032444.4(SLX4):c.2027T>C (p.Leu676Pro)
NM_032444.4(SLX4):c.202A>G (p.Lys68Glu)
NM_032444.4(SLX4):c.2045G>T (p.Gly682Val) rs765804056
NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro) rs115866745
NM_032444.4(SLX4):c.2054T>G (p.Val685Gly)
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser) rs571330689
NM_032444.4(SLX4):c.2072G>A (p.Ser691Asn) rs1596525216
NM_032444.4(SLX4):c.208G>C (p.Val70Leu)
NM_032444.4(SLX4):c.2093A>C (p.Asp698Ala)
NM_032444.4(SLX4):c.2117A>T (p.His706Leu) rs2151128459
NM_032444.4(SLX4):c.2120A>G (p.Lys707Arg) rs1555450869
NM_032444.4(SLX4):c.2150T>C (p.Leu717Pro) rs1596525067
NM_032444.4(SLX4):c.2160+8C>A
NM_032444.4(SLX4):c.2160T>C (p.Tyr720=)
NM_032444.4(SLX4):c.2161-6C>A rs2151127337
NM_032444.4(SLX4):c.2168A>G (p.Asn723Ser) rs2151127319
NM_032444.4(SLX4):c.2185G>A (p.Val729Ile)
NM_032444.4(SLX4):c.2187A>G (p.Val729=) rs2040609293
NM_032444.4(SLX4):c.2191G>A (p.Asp731Asn)
NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg) rs202189103
NM_032444.4(SLX4):c.2197G>C (p.Val733Leu) rs1555450668
NM_032444.4(SLX4):c.2209C>T (p.Arg737Cys) rs140706384
NM_032444.4(SLX4):c.2222G>A (p.Gly741Asp)
NM_032444.4(SLX4):c.2231G>A (p.Ser744Asn) rs1307528536
NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)
NM_032444.4(SLX4):c.2251T>G (p.Phe751Val)
NM_032444.4(SLX4):c.2261A>G (p.Tyr754Cys) rs771002901
NM_032444.4(SLX4):c.2264T>C (p.Leu755Pro)
NM_032444.4(SLX4):c.2278A>G (p.Thr760Ala) rs2040607353
NM_032444.4(SLX4):c.230A>G (p.Gln77Arg)
NM_032444.4(SLX4):c.2328-11T>C rs1390856264
NM_032444.4(SLX4):c.2335G>C (p.Val779Leu) rs768126392
NM_032444.4(SLX4):c.2347G>A (p.Val783Ile) rs771580450
NM_032444.4(SLX4):c.2357G>A (p.Cys786Tyr) rs1282868817
NM_032444.4(SLX4):c.2363A>G (p.Gln788Arg)
NM_032444.4(SLX4):c.2363A>T (p.Gln788Leu) rs748659860
NM_032444.4(SLX4):c.2364G>C (p.Gln788His)
NM_032444.4(SLX4):c.2368C>T (p.Pro790Ser)
NM_032444.4(SLX4):c.2371A>G (p.Ile791Val) rs1422973391
NM_032444.4(SLX4):c.2372T>G (p.Ile791Ser) rs2040591427
NM_032444.4(SLX4):c.2401GAG[1] (p.Glu802del) rs2151125964
NM_032444.4(SLX4):c.2416G>C (p.Glu806Gln)
NM_032444.4(SLX4):c.2418G>T (p.Glu806Asp) rs2151125944
NM_032444.4(SLX4):c.2435C>T (p.Ala812Val)
NM_032444.4(SLX4):c.2441A>G (p.Asn814Ser) rs777299783
NM_032444.4(SLX4):c.2451A>C (p.Glu817Asp)
NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)
NM_032444.4(SLX4):c.2478_2480del (p.Glu829del)
NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly) rs1488400493
NM_032444.4(SLX4):c.248G>A (p.Gly83Asp)
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala) rs771698977
NM_032444.4(SLX4):c.2494A>G (p.Thr832Ala) rs1345752601
NM_032444.4(SLX4):c.2510A>G (p.Lys837Arg) rs2151125769
NM_032444.4(SLX4):c.2517C>G (p.His839Gln)
NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del) rs2151125733
NM_032444.4(SLX4):c.2535C>A (p.Asn845Lys)
NM_032444.4(SLX4):c.2536G>A (p.Val846Met)
NM_032444.4(SLX4):c.254A>G (p.Gln85Arg) rs878855160
NM_032444.4(SLX4):c.2553G>A (p.Met851Ile) rs2040587848
NM_032444.4(SLX4):c.256A>T (p.Ile86Leu)
NM_032444.4(SLX4):c.2576C>G (p.Ala859Gly)
NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg) rs113420526
NM_032444.4(SLX4):c.2621G>T (p.Gly874Val)
NM_032444.4(SLX4):c.2637G>C (p.Trp879Cys) rs1276786771
NM_032444.4(SLX4):c.2650A>G (p.Ser884Gly)
NM_032444.4(SLX4):c.2666A>G (p.Gln889Arg)
NM_032444.4(SLX4):c.2675C>T (p.Ala892Val) rs1368217140
NM_032444.4(SLX4):c.2688G>A (p.Val896=) rs758166923
NM_032444.4(SLX4):c.2706G>T (p.Lys902Asn)
NM_032444.4(SLX4):c.2710GAG[1] (p.Glu905del) rs1292828765
NM_032444.4(SLX4):c.2719G>C (p.Glu907Gln) rs1408881754
NM_032444.4(SLX4):c.2720A>G (p.Glu907Gly)
NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp) rs141450907
NM_032444.4(SLX4):c.2723C>T (p.Pro908Leu)
NM_032444.4(SLX4):c.2728G>C (p.Glu910Gln) rs2151125290
NM_032444.4(SLX4):c.2731C>G (p.Pro911Ala) rs2151125280
NM_032444.4(SLX4):c.2742T>G (p.Asp914Glu) rs1060504342
NM_032444.4(SLX4):c.2746GCC[3] (p.Ala917dup) rs2151125227
NM_032444.4(SLX4):c.2747C>T (p.Ala916Val) rs2151125242
NM_032444.4(SLX4):c.2766G>T (p.Lys922Asn)
NM_032444.4(SLX4):c.2777G>A (p.Cys926Tyr)
NM_032444.4(SLX4):c.2789C>G (p.Pro930Arg)
NM_032444.4(SLX4):c.278C>T (p.Thr93Ile) rs2151139524
NM_032444.4(SLX4):c.2812G>C (p.Ala938Pro) rs2151125038
NM_032444.4(SLX4):c.2815C>T (p.Arg939Trp)
NM_032444.4(SLX4):c.2816G>C (p.Arg939Pro) rs768474876
NM_032444.4(SLX4):c.2821G>A (p.Ala941Thr)
NM_032444.4(SLX4):c.2825A>T (p.Glu942Val) rs2040579815
NM_032444.4(SLX4):c.2827G>A (p.Ala943Thr)
NM_032444.4(SLX4):c.2833G>A (p.Glu945Lys)
NM_032444.4(SLX4):c.2835G>C (p.Glu945Asp) rs2040579474
NM_032444.4(SLX4):c.2846C>T (p.Pro949Leu)
NM_032444.4(SLX4):c.2851G>A (p.Glu951Lys) rs1555450353
NM_032444.4(SLX4):c.2854_2856delinsATA (p.Ala952Ile) rs2040578747
NM_032444.4(SLX4):c.2857C>G (p.Leu953Val) rs1185482904
NM_032444.4(SLX4):c.2860G>A (p.Gly954Ser)
NM_032444.4(SLX4):c.2881C>A (p.Pro961Thr) rs2151124871
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu) rs886051978
NM_032444.4(SLX4):c.289G>A (p.Ala97Thr) rs2040813930
NM_032444.4(SLX4):c.2912_2913delinsGC (p.Glu971Gly) rs2151124807
NM_032444.4(SLX4):c.2914G>A (p.Gly972Ser)
NM_032444.4(SLX4):c.2915G>A (p.Gly972Asp) rs2151124801
NM_032444.4(SLX4):c.2927A>G (p.His976Arg) rs141294497
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757
NM_032444.4(SLX4):c.2960T>C (p.Phe987Ser) rs2040576468
NM_032444.4(SLX4):c.2972A>G (p.Gln991Arg)
NM_032444.4(SLX4):c.2978A>G (p.Glu993Gly) rs759599459
NM_032444.4(SLX4):c.2993C>T (p.Ser998Phe)
NM_032444.4(SLX4):c.299C>A (p.Thr100Asn) rs201163062
NM_032444.4(SLX4):c.3001A>G (p.Thr1001Ala) rs769494671
NM_032444.4(SLX4):c.3002C>T (p.Thr1001Ile)
NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys) rs746178364
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=) rs1278706933
NM_032444.4(SLX4):c.3034A>G (p.Arg1012Gly)
NM_032444.4(SLX4):c.3044G>A (p.Gly1015Glu) rs2151124497
NM_032444.4(SLX4):c.3049G>A (p.Glu1017Lys)
NM_032444.4(SLX4):c.3052G>A (p.Val1018Ile) rs948861318
NM_032444.4(SLX4):c.3059A>G (p.His1020Arg) rs2151124446
NM_032444.4(SLX4):c.3062G>A (p.Arg1021His)
NM_032444.4(SLX4):c.3073T>C (p.Trp1025Arg)
NM_032444.4(SLX4):c.3079G>T (p.Ala1027Ser)
NM_032444.4(SLX4):c.3101G>T (p.Arg1034Leu)
NM_032444.4(SLX4):c.312A>C (p.Gln104His)
NM_032444.4(SLX4):c.3142T>A (p.Ser1048Thr)
NM_032444.4(SLX4):c.3157G>A (p.Gly1053Arg)
NM_032444.4(SLX4):c.3161C>T (p.Ser1054Leu)
NM_032444.4(SLX4):c.3179G>C (p.Arg1060Pro) rs199994766
NM_032444.4(SLX4):c.317C>T (p.Pro106Leu) rs2151139456
NM_032444.4(SLX4):c.3182C>T (p.Ser1061Phe) rs2151124127
NM_032444.4(SLX4):c.3185G>A (p.Arg1062His)
NM_032444.4(SLX4):c.3191G>T (p.Gly1064Val)
NM_032444.4(SLX4):c.3200A>G (p.Gln1067Arg) rs2040570986
NM_032444.4(SLX4):c.3209C>G (p.Ser1070Cys) rs2040570774
NM_032444.4(SLX4):c.3209C>T (p.Ser1070Phe) rs2040570774
NM_032444.4(SLX4):c.320C>T (p.Ala107Val) rs2040813512
NM_032444.4(SLX4):c.3214A>G (p.Thr1072Ala)
NM_032444.4(SLX4):c.3215C>T (p.Thr1072Ile)
NM_032444.4(SLX4):c.3224C>T (p.Ser1075Phe) rs147558074
NM_032444.4(SLX4):c.3226C>A (p.Pro1076Thr) rs2151124007
NM_032444.4(SLX4):c.3226C>G (p.Pro1076Ala) rs2151124007
NM_032444.4(SLX4):c.3251G>C (p.Arg1084Thr)
NM_032444.4(SLX4):c.3254A>G (p.Asp1085Gly)
NM_032444.4(SLX4):c.3263T>C (p.Ile1088Thr)
NM_032444.4(SLX4):c.3268A>G (p.Thr1090Ala)
NM_032444.4(SLX4):c.3311G>A (p.Arg1104Gln)
NM_032444.4(SLX4):c.3313T>A (p.Ser1105Thr) rs2151123849
NM_032444.4(SLX4):c.3326G>A (p.Cys1109Tyr)
NM_032444.4(SLX4):c.332C>T (p.Pro111Leu) rs765630089
NM_032444.4(SLX4):c.3334A>C (p.Lys1112Gln) rs570382990
NM_032444.4(SLX4):c.3334A>G (p.Lys1112Glu) rs570382990
NM_032444.4(SLX4):c.3337G>C (p.Gly1113Arg) rs772246820
NM_032444.4(SLX4):c.3338_3340del (p.Gly1113del) rs2151123784
NM_032444.4(SLX4):c.3344T>C (p.Leu1115Pro) rs2040568630
NM_032444.4(SLX4):c.3350T>A (p.Phe1117Tyr) rs1596521648
NM_032444.4(SLX4):c.3353C>T (p.Pro1118Leu) rs1567170196
NM_032444.4(SLX4):c.3361T>C (p.Ser1121Pro)
NM_032444.4(SLX4):c.3362C>T (p.Ser1121Phe) rs1060501792
NM_032444.4(SLX4):c.3364C>G (p.Pro1122Ala)
NM_032444.4(SLX4):c.3370A>T (p.Ile1124Phe)
NM_032444.4(SLX4):c.3373G>A (p.Asp1125Asn)
NM_032444.4(SLX4):c.3380C>T (p.Thr1127Ile)
NM_032444.4(SLX4):c.3383A>C (p.Gln1128Pro)
NM_032444.4(SLX4):c.3398A>G (p.His1133Arg)
NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu) rs1433489753
NM_032444.4(SLX4):c.3405C>A (p.Ser1135Arg)
NM_032444.4(SLX4):c.3416A>G (p.Gln1139Arg) rs2151123634
NM_032444.4(SLX4):c.3424T>C (p.Ser1142Pro) rs1400414235
NM_032444.4(SLX4):c.3425C>T (p.Ser1142Leu) rs967412461
NM_032444.4(SLX4):c.3427T>G (p.Ser1143Ala) rs1567170136
NM_032444.4(SLX4):c.3434T>C (p.Leu1145Pro) rs759560028
NM_032444.4(SLX4):c.3438C>A (p.Asn1146Lys)
NM_032444.4(SLX4):c.343A>C (p.Ser115Arg) rs959148678
NM_032444.4(SLX4):c.3441AGA[1] (p.Glu1148del)
NM_032444.4(SLX4):c.3442G>C (p.Glu1148Gln)
NM_032444.4(SLX4):c.3444A>C (p.Glu1148Asp) rs771079071
NM_032444.4(SLX4):c.3444A>T (p.Glu1148Asp) rs771079071
NM_032444.4(SLX4):c.3446A>G (p.Asp1149Gly) rs2040566610
NM_032444.4(SLX4):c.3451G>A (p.Val1151Ile) rs1060501796
NM_032444.4(SLX4):c.3475G>A (p.Glu1159Lys)
NM_032444.4(SLX4):c.3477G>C (p.Glu1159Asp) rs1349173708
NM_032444.4(SLX4):c.3492A>C (p.Glu1164Asp) rs1324916025
NM_032444.4(SLX4):c.3497C>A (p.Thr1166Asn)
NM_032444.4(SLX4):c.349G>A (p.Ala117Thr)
NM_032444.4(SLX4):c.3502A>G (p.Met1168Val)
NM_032444.4(SLX4):c.3506A>C (p.Lys1169Thr)
NM_032444.4(SLX4):c.3522T>A (p.Asp1174Glu) rs2151123437
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala) rs1264184614
NM_032444.4(SLX4):c.3584T>C (p.Ile1195Thr) rs757575928
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala) rs1003342051
NM_032444.4(SLX4):c.3599A>T (p.Asp1200Val) rs1165195894
NM_032444.4(SLX4):c.3607C>A (p.Pro1203Thr) rs745508761
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala) rs745508761
NM_032444.4(SLX4):c.360T>C (p.Thr120=) rs886051982
NM_032444.4(SLX4):c.3623C>T (p.Pro1208Leu)
NM_032444.4(SLX4):c.3626G>A (p.Arg1209Lys)
NM_032444.4(SLX4):c.363_365del (p.Lys122del) rs2151139354
NM_032444.4(SLX4):c.3658G>A (p.Gly1220Arg) rs1160985971
NM_032444.4(SLX4):c.3661_3662delinsTT (p.Ala1221Leu)
NM_032444.4(SLX4):c.366G>C (p.Lys122Asn) rs149626570
NM_032444.4(SLX4):c.3670G>C (p.Glu1224Gln) rs2151123121
NM_032444.4(SLX4):c.3686T>C (p.Leu1229Ser)
NM_032444.4(SLX4):c.3700G>T (p.Ala1234Ser) rs1555450127
NM_032444.4(SLX4):c.370A>G (p.Arg124Gly)
NM_032444.4(SLX4):c.3715T>C (p.Cys1239Arg) rs2151122998
NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)
NM_032444.4(SLX4):c.3724G>A (p.Glu1242Lys)
NM_032444.4(SLX4):c.3727A>G (p.Ser1243Gly)
NM_032444.4(SLX4):c.3728G>A (p.Ser1243Asn)
NM_032444.4(SLX4):c.3734C>T (p.Pro1245Leu)
NM_032444.4(SLX4):c.3739G>C (p.Glu1247Gln)
NM_032444.4(SLX4):c.3743C>T (p.Ala1248Val)
NM_032444.4(SLX4):c.374T>C (p.Val125Ala)
NM_032444.4(SLX4):c.3751A>G (p.Thr1251Ala) rs1596521026
NM_032444.4(SLX4):c.3773C>G (p.Pro1258Arg)
NM_032444.4(SLX4):c.3784C>G (p.Leu1262Val)
NM_032444.4(SLX4):c.380A>T (p.Lys127Ile)
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn) rs1596520868
NM_032444.4(SLX4):c.3832C>T (p.Leu1278Phe) rs2151122691
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu) rs766299864
NM_032444.4(SLX4):c.3848C>T (p.Ala1283Val) rs140103960
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu) rs373107728
NM_032444.4(SLX4):c.3856G>A (p.Ala1286Thr)
NM_032444.4(SLX4):c.3863C>G (p.Thr1288Ser) rs1060501799
NM_032444.4(SLX4):c.3866A>G (p.Gln1289Arg)
NM_032444.4(SLX4):c.3868C>T (p.His1290Tyr) rs112596894
NM_032444.4(SLX4):c.388G>A (p.Ala130Thr) rs2040812493
NM_032444.4(SLX4):c.3890G>A (p.Gly1297Glu)
NM_032444.4(SLX4):c.38A>G (p.Tyr13Cys)
NM_032444.4(SLX4):c.3902G>T (p.Gly1301Val) rs1307466531
NM_032444.4(SLX4):c.3903G>T (p.Gly1301=) rs753464234
NM_032444.4(SLX4):c.3918G>T (p.Gln1306His)
NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del) rs775548839
NM_032444.4(SLX4):c.392G>A (p.Ser131Asn) rs2040812388
NM_032444.4(SLX4):c.3934A>G (p.Arg1312Gly)
NM_032444.4(SLX4):c.3946C>A (p.Pro1316Thr)
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_032444.4(SLX4):c.3948_3962dup (p.Pro1317_Pro1321dup) rs1302525912
NM_032444.4(SLX4):c.3952C>T (p.Pro1318Ser)
NM_032444.4(SLX4):c.3952_3963del (p.Pro1318_Pro1321del) rs771773313
NM_032444.4(SLX4):c.3958A>T (p.Thr1320Ser) rs1060501797
NM_032444.4(SLX4):c.3965C>T (p.Ser1322Phe)
NM_032444.4(SLX4):c.3970T>G (p.Cys1324Gly)
NM_032444.4(SLX4):c.3973C>G (p.Leu1325Val) rs2151122362
NM_032444.4(SLX4):c.3973C>T (p.Leu1325Phe)
NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu) rs201826765
NM_032444.4(SLX4):c.4003G>A (p.Gly1335Ser) rs367562934
NM_032444.4(SLX4):c.4003G>T (p.Gly1335Cys) rs367562934
NM_032444.4(SLX4):c.4004G>T (p.Gly1335Val)
NM_032444.4(SLX4):c.4013A>G (p.Gln1338Arg) rs2040554954
NM_032444.4(SLX4):c.4016G>A (p.Gly1339Asp) rs2040554845
NM_032444.4(SLX4):c.4036C>T (p.Pro1346Ser) rs2040554159
NM_032444.4(SLX4):c.4044_4045insCAGCGGAGA (p.Pro1348_Gly1349insGlnArgArg) rs2151122205
NM_032444.4(SLX4):c.4045G>A (p.Gly1349Arg)
NM_032444.4(SLX4):c.4049G>A (p.Gly1350Asp)
NM_032444.4(SLX4):c.4055C>G (p.Pro1352Arg)
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.4057C>T (p.His1353Tyr) rs142205392
NM_032444.4(SLX4):c.4067C>A (p.Pro1356Gln) rs764254888
NM_032444.4(SLX4):c.4075C>T (p.Pro1359Ser)
NM_032444.4(SLX4):c.4114C>T (p.Arg1372Trp)
NM_032444.4(SLX4):c.4129T>G (p.Ser1377Ala)
NM_032444.4(SLX4):c.4130C>G (p.Ser1377Trp) rs770241338
NM_032444.4(SLX4):c.4135C>G (p.Pro1379Ala)
NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)
NM_032444.4(SLX4):c.4162C>G (p.Pro1388Ala) rs1457147753
NM_032444.4(SLX4):c.416G>C (p.Gly139Ala)
NM_032444.4(SLX4):c.416G>T (p.Gly139Val)
NM_032444.4(SLX4):c.4171G>A (p.Glu1391Lys)
NM_032444.4(SLX4):c.4175TGG[1] (p.Val1393del) rs756477852
NM_032444.4(SLX4):c.4177G>C (p.Val1393Leu)
NM_032444.4(SLX4):c.4191C>A (p.Asp1397Glu)
NM_032444.4(SLX4):c.4195G>T (p.Asp1399Tyr)
NM_032444.4(SLX4):c.4197C>G (p.Asp1399Glu) rs146079010
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp) rs753015235
NM_032444.4(SLX4):c.4219C>T (p.His1407Tyr)
NM_032444.4(SLX4):c.421G>C (p.Gly141Arg) rs137976282
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4229A>G (p.Asn1410Ser) rs1596520203
NM_032444.4(SLX4):c.4230C>G (p.Asn1410Lys)
NM_032444.4(SLX4):c.4245_4246delinsAA (p.Asp1416Asn) rs2040548229
NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn) rs1158558800
NM_032444.4(SLX4):c.4255C>T (p.Pro1419Ser)
NM_032444.4(SLX4):c.4258C>G (p.Pro1420Ala) rs2151121708
NM_032444.4(SLX4):c.4258C>T (p.Pro1420Ser)
NM_032444.4(SLX4):c.4264C>G (p.Pro1422Ala)
NM_032444.4(SLX4):c.4265C>T (p.Pro1422Leu)
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336
NM_032444.4(SLX4):c.4270GAC[1] (p.Asp1425del) rs755109579
NM_032444.4(SLX4):c.427G>A (p.Val143Met)
NM_032444.4(SLX4):c.4280G>C (p.Cys1427Ser)
NM_032444.4(SLX4):c.4285C>T (p.His1429Tyr)
NM_032444.4(SLX4):c.4288A>G (p.Met1430Val)
NM_032444.4(SLX4):c.4295C>T (p.Pro1432Leu)
NM_032444.4(SLX4):c.42G>C (p.Leu14Phe) rs1332832206
NM_032444.4(SLX4):c.4306A>G (p.Ile1436Val) rs2151121602
NM_032444.4(SLX4):c.4333C>G (p.Arg1445Gly) rs777967898
NM_032444.4(SLX4):c.4336A>G (p.Thr1446Ala) rs2040546349
NM_032444.4(SLX4):c.4337C>G (p.Thr1446Ser)
NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn) rs765104618
NM_032444.4(SLX4):c.4371G>T (p.Arg1457Ser)
NM_032444.4(SLX4):c.4373T>C (p.Met1458Thr)
NM_032444.4(SLX4):c.4374G>C (p.Met1458Ile)
NM_032444.4(SLX4):c.4377C>G (p.Asn1459Lys) rs773941480
NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys) rs749082427
NM_032444.4(SLX4):c.437C>G (p.Ser146Cys)
NM_032444.4(SLX4):c.4382C>T (p.Ala1461Val)
NM_032444.4(SLX4):c.4382CCG[1] (p.Ala1462del)
NM_032444.4(SLX4):c.4384G>A (p.Ala1462Thr) rs138484365
NM_032444.4(SLX4):c.4394G>C (p.Arg1465Pro)
NM_032444.4(SLX4):c.4394G>T (p.Arg1465Leu) rs757128699
NM_032444.4(SLX4):c.4395_4406del (p.Asp1466_Ser1469del) rs2151121320
NM_032444.4(SLX4):c.4400G>A (p.Cys1467Tyr)
NM_032444.4(SLX4):c.4400G>C (p.Cys1467Ser)
NM_032444.4(SLX4):c.440C>T (p.Ala147Val)
NM_032444.4(SLX4):c.4411G>A (p.Gly1471Arg)
NM_032444.4(SLX4):c.4420G>A (p.Asp1474Asn)
NM_032444.4(SLX4):c.4429C>G (p.Pro1477Ala)
NM_032444.4(SLX4):c.442C>T (p.Pro148Ser)
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg) rs1307537720
NM_032444.4(SLX4):c.4451C>T (p.Thr1484Ile)
NM_032444.4(SLX4):c.4457G>A (p.Arg1486Lys)
NM_032444.4(SLX4):c.4464G>C (p.Leu1488Phe) rs2040543369
NM_032444.4(SLX4):c.4468G>A (p.Glu1490Lys) rs1378182049
NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del) rs750613465
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=) rs140872903
NM_032444.4(SLX4):c.4505G>A (p.Arg1502Lys)
NM_032444.4(SLX4):c.4508C>G (p.Pro1503Arg) rs370637700
NM_032444.4(SLX4):c.4510A>C (p.Ser1504Arg)
NM_032444.4(SLX4):c.4511G>C (p.Ser1504Thr) rs1485376668
NM_032444.4(SLX4):c.4523C>G (p.Ser1508Trp)
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu) rs112694849
NM_032444.4(SLX4):c.4534G>A (p.Asp1512Asn)
NM_032444.4(SLX4):c.4534G>C (p.Asp1512His)
NM_032444.4(SLX4):c.4542G>T (p.Trp1514Cys) rs1198880078
NM_032444.4(SLX4):c.4546G>C (p.Gly1516Arg) rs775915651
NM_032444.4(SLX4):c.4556A>C (p.Gln1519Pro) rs561446698
NM_032444.4(SLX4):c.455T>C (p.Val152Ala) rs2151139133
NM_032444.4(SLX4):c.4576C>T (p.Pro1526Ser)
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln) rs149362820
NM_032444.4(SLX4):c.4586A>G (p.Gln1529Arg) rs2151120875
NM_032444.4(SLX4):c.4590G>T (p.Met1530Ile)
NM_032444.4(SLX4):c.4600G>T (p.Gly1534Cys) rs78770603
NM_032444.4(SLX4):c.4601G>A (p.Gly1534Asp) rs753047651
NM_032444.4(SLX4):c.4601G>T (p.Gly1534Val) rs753047651
NM_032444.4(SLX4):c.4615C>T (p.Pro1539Ser)
NM_032444.4(SLX4):c.4620A>C (p.Glu1540Asp)
NM_032444.4(SLX4):c.4622G>A (p.Gly1541Glu)
NM_032444.4(SLX4):c.4629G>C (p.Glu1543Asp)
NM_032444.4(SLX4):c.4629G>T (p.Glu1543Asp) rs1406412705
NM_032444.4(SLX4):c.4633C>T (p.Pro1545Ser) rs2040539889
NM_032444.4(SLX4):c.4636A>G (p.Lys1546Glu)
NM_032444.4(SLX4):c.4645A>T (p.Asn1549Tyr) rs2040490377
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del) rs760517738
NM_032444.4(SLX4):c.4652A>G (p.Lys1551Arg)
NM_032444.4(SLX4):c.4678A>G (p.Ile1560Val)
NM_032444.4(SLX4):c.467C>T (p.Thr156Ile) rs144614070
NM_032444.4(SLX4):c.4697A>G (p.Tyr1566Cys)
NM_032444.4(SLX4):c.4703T>C (p.Ile1568Thr) rs377185661
NM_032444.4(SLX4):c.4706T>C (p.Met1569Thr)
NM_032444.4(SLX4):c.4717G>T (p.Val1573Leu)
NM_032444.4(SLX4):c.4720C>G (p.Leu1574Val) rs2040488671
NM_032444.4(SLX4):c.4721_4722delinsCC (p.Leu1574Pro) rs2151118023
NM_032444.4(SLX4):c.4729G>C (p.Glu1577Gln)
NM_032444.4(SLX4):c.4737T>A (p.Asp1579Glu) rs1466193115
NM_032444.4(SLX4):c.4739+6C>A rs770758859
NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)
NM_032444.4(SLX4):c.4760C>G (p.Pro1587Arg) rs2040468443
NM_032444.4(SLX4):c.476A>C (p.Asn159Thr)
NM_032444.4(SLX4):c.4774G>T (p.Val1592Phe)
NM_032444.4(SLX4):c.4787A>C (p.Lys1596Thr) rs2151117092
NM_032444.4(SLX4):c.4791G>C (p.Glu1597Asp)
NM_032444.4(SLX4):c.4792A>G (p.Ile1598Val)
NM_032444.4(SLX4):c.4799A>G (p.Gln1600Arg) rs2151117076
NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro) rs756198942
NM_032444.4(SLX4):c.4804A>G (p.Thr1602Ala)
NM_032444.4(SLX4):c.4811A>C (p.Gln1604Pro) rs2040467275
NM_032444.4(SLX4):c.4831G>A (p.Glu1611Lys)
NM_032444.4(SLX4):c.4832A>G (p.Glu1611Gly)
NM_032444.4(SLX4):c.4836C>A (p.Asp1612Glu) rs140844106
NM_032444.4(SLX4):c.4842C>G (p.Ser1614Arg) rs2151116971
NM_032444.4(SLX4):c.487G>A (p.Gly163Ser)
NM_032444.4(SLX4):c.4883C>A (p.Thr1628Asn) rs199573277
NM_032444.4(SLX4):c.4883C>T (p.Thr1628Ile) rs199573277
NM_032444.4(SLX4):c.4906C>A (p.Pro1636Thr)
NM_032444.4(SLX4):c.4916C>G (p.Ala1639Gly)
NM_032444.4(SLX4):c.4916C>T (p.Ala1639Val)
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg) rs368102037
NM_032444.4(SLX4):c.4921dup (p.Val1641fs) rs770425994
NM_032444.4(SLX4):c.4931A>G (p.Gln1644Arg) rs2151116778
NM_032444.4(SLX4):c.4936G>A (p.Glu1646Lys)
NM_032444.4(SLX4):c.4936G>C (p.Glu1646Gln)
NM_032444.4(SLX4):c.4943C>A (p.Thr1648Asn)
NM_032444.4(SLX4):c.4946C>T (p.Thr1649Ile) rs2040464427
NM_032444.4(SLX4):c.4948G>A (p.Gly1650Arg) rs770344772
NM_032444.4(SLX4):c.4949G>A (p.Gly1650Glu) rs1567166441
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr) rs2151116711
NM_032444.4(SLX4):c.4973G>A (p.Gly1658Glu)
NM_032444.4(SLX4):c.4975C>T (p.Pro1659Ser)
NM_032444.4(SLX4):c.4978_4980del (p.Ala1660del)
NM_032444.4(SLX4):c.4979C>T (p.Ala1660Val)
NM_032444.4(SLX4):c.497A>C (p.Gln166Pro) rs2151139059
NM_032444.4(SLX4):c.4990G>A (p.Gly1664Ser)
NM_032444.4(SLX4):c.4997G>A (p.Arg1666Gln)
NM_032444.4(SLX4):c.4999C>A (p.His1667Asn) rs746120772
NM_032444.4(SLX4):c.5000A>C (p.His1667Pro)
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile) rs377544881
NM_032444.4(SLX4):c.5030C>A (p.Pro1677His) rs2040462734
NM_032444.4(SLX4):c.5039G>A (p.Arg1680Lys)
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5044C>T (p.Pro1682Ser)
NM_032444.4(SLX4):c.5057C>T (p.Ala1686Val)
NM_032444.4(SLX4):c.5063C>T (p.Pro1688Leu) rs2151116555
NM_032444.4(SLX4):c.5066G>A (p.Gly1689Asp) rs2151116548
NM_032444.4(SLX4):c.506C>G (p.Ser169Trp)
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu) rs776018346
NM_032444.4(SLX4):c.5072A>T (p.Asn1691Ile) rs551385115
NM_032444.4(SLX4):c.5080G>A (p.Ala1694Thr) rs1218491919
NM_032444.4(SLX4):c.5080G>T (p.Ala1694Ser) rs1218491919
NM_032444.4(SLX4):c.5096C>G (p.Ser1699Cys) rs184699331
NM_032444.4(SLX4):c.5101_5103del (p.Glu1701del)
NM_032444.4(SLX4):c.5102A>T (p.Glu1701Val) rs2040461062
NM_032444.4(SLX4):c.5107G>A (p.Val1703Met)
NM_032444.4(SLX4):c.5107G>T (p.Val1703Leu)
NM_032444.4(SLX4):c.5108T>G (p.Val1703Gly) rs2040460900
NM_032444.4(SLX4):c.5110G>T (p.Ala1704Ser)
NM_032444.4(SLX4):c.5129G>A (p.Ser1710Asn) rs2151116448
NM_032444.4(SLX4):c.5143A>G (p.Ser1715Gly) rs2151116429
NM_032444.4(SLX4):c.5150A>C (p.Gln1717Pro) rs766089444
NM_032444.4(SLX4):c.5150A>G (p.Gln1717Arg) rs766089444
NM_032444.4(SLX4):c.5153+5C>A
NM_032444.4(SLX4):c.5153+6C>A rs754209356
NM_032444.4(SLX4):c.5153+6C>T rs754209356
NM_032444.4(SLX4):c.5154-9T>A rs1372404016
NM_032444.4(SLX4):c.5154TTC[1] (p.Ser1721del) rs770121119
NM_032444.4(SLX4):c.5171T>C (p.Phe1724Ser) rs2151116029
NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln) rs1376464922
NM_032444.4(SLX4):c.5186A>C (p.Glu1729Ala)
NM_032444.4(SLX4):c.5189C>T (p.Ser1730Phe) rs376960842
NM_032444.4(SLX4):c.5192C>T (p.Ala1731Val)
NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)
NM_032444.4(SLX4):c.5197G>A (p.Glu1733Lys)
NM_032444.4(SLX4):c.5204A>C (p.Glu1735Ala)
NM_032444.4(SLX4):c.5209G>A (p.Glu1737Lys)
NM_032444.4(SLX4):c.5211G>C (p.Glu1737Asp) rs1365924781
NM_032444.4(SLX4):c.5215G>A (p.Glu1739Lys) rs2040453082
NM_032444.4(SLX4):c.5239G>A (p.Val1747Met)
NM_032444.4(SLX4):c.5239G>T (p.Val1747Leu)
NM_032444.4(SLX4):c.5246C>T (p.Ala1749Val)
NM_032444.4(SLX4):c.5248G>A (p.Ala1750Thr)
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu) rs878855163
NM_032444.4(SLX4):c.5257G>C (p.Asp1753His) rs981311587
NM_032444.4(SLX4):c.5264C>G (p.Ala1755Gly)
NM_032444.4(SLX4):c.528A>C (p.Lys176Asn) rs778569160
NM_032444.4(SLX4):c.5300A>G (p.Tyr1767Cys) rs2040450814
NM_032444.4(SLX4):c.5305_5322dup (p.Lys1769_Gln1774dup) rs2151115686
NM_032444.4(SLX4):c.5308G>A (p.Val1770Met)
NM_032444.4(SLX4):c.5309T>A (p.Val1770Glu)
NM_032444.4(SLX4):c.5312T>C (p.Leu1771Pro)
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=) rs1596514559
NM_032444.4(SLX4):c.5327T>G (p.Phe1776Cys) rs747442815
NM_032444.4(SLX4):c.5328T>G (p.Phe1776Leu) rs2040450297
NM_032444.4(SLX4):c.5333T>G (p.Leu1778Arg)
NM_032444.4(SLX4):c.5342_5350del (p.Leu1781_Glu1784delinsGln) rs2151115638
NM_032444.4(SLX4):c.535+6T>G
NM_032444.4(SLX4):c.5359C>G (p.Gln1787Glu) rs1259909923
NM_032444.4(SLX4):c.5359C>T (p.Gln1787Ter)
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile) rs2040449660
NM_032444.4(SLX4):c.5381C>T (p.Ser1794Leu)
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met) rs886051976
NM_032444.4(SLX4):c.5434G>A (p.Ala1812Thr)
NM_032444.4(SLX4):c.5440C>G (p.Arg1814Gly)
NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys) rs767720336
NM_032444.4(SLX4):c.5444G>C (p.Arg1815Thr) rs375885941
NM_032444.4(SLX4):c.5446G>A (p.Glu1816Lys)
NM_032444.4(SLX4):c.5468G>A (p.Arg1823Gln)
NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter) rs1037474114
NM_032444.4(SLX4):c.5480G>T (p.Gly1827Val) rs2151115403
NM_032444.4(SLX4):c.5480del (p.Gly1827fs) rs780024167
NM_032444.4(SLX4):c.5482AAG[2] (p.Lys1830del) rs758485573
NM_032444.4(SLX4):c.552C>T (p.Ser184=)
NM_032444.4(SLX4):c.553G>T (p.Asp185Tyr)
NM_032444.4(SLX4):c.55C>T (p.His19Tyr)
NM_032444.4(SLX4):c.561G>T (p.Gln187His) rs778738306
NM_032444.4(SLX4):c.565C>G (p.Pro189Ala) rs757069991
NM_032444.4(SLX4):c.565C>T (p.Pro189Ser)
NM_032444.4(SLX4):c.568C>T (p.Pro190Ser) rs753758188
NM_032444.4(SLX4):c.580A>G (p.Thr194Ala)
NM_032444.4(SLX4):c.589G>A (p.Val197Met) rs1555452306
NM_032444.4(SLX4):c.595A>C (p.Ser199Arg) rs770098753
NM_032444.4(SLX4):c.607C>A (p.Pro203Thr) rs2151137984
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly) rs79842542
NM_032444.4(SLX4):c.616G>A (p.Ala206Thr)
NM_032444.4(SLX4):c.629T>C (p.Leu210Pro) rs957576825
NM_032444.4(SLX4):c.632A>G (p.Gln211Arg) rs2151137938
NM_032444.4(SLX4):c.645G>C (p.Gln215His) rs1449991903
NM_032444.4(SLX4):c.660C>A (p.Asp220Glu) rs767206967
NM_032444.4(SLX4):c.661C>T (p.Pro221Ser) rs2040785784
NM_032444.4(SLX4):c.676C>T (p.His226Tyr) rs761229867
NM_032444.4(SLX4):c.678C>A (p.His226Gln) rs28516461
NM_032444.4(SLX4):c.698T>C (p.Leu233Pro) rs2151137818
NM_032444.4(SLX4):c.703G>A (p.Ala235Thr) rs754917250
NM_032444.4(SLX4):c.704C>G (p.Ala235Gly) rs2040784637
NM_032444.4(SLX4):c.707C>T (p.Ala236Val) rs200803578
NM_032444.4(SLX4):c.718A>C (p.Asn240His)
NM_032444.4(SLX4):c.738A>G (p.Gln246=) rs905819290
NM_032444.4(SLX4):c.742G>C (p.Glu248Gln)
NM_032444.4(SLX4):c.749T>C (p.Met250Thr)
NM_032444.4(SLX4):c.760+5G>A rs1555452262
NM_032444.4(SLX4):c.761T>A (p.Val254Glu) rs776582706
NM_032444.4(SLX4):c.764A>G (p.Tyr255Cys)
NM_032444.4(SLX4):c.786A>G (p.Pro262=) rs2040736285
NM_032444.4(SLX4):c.788A>C (p.Glu263Ala) rs2151135057
NM_032444.4(SLX4):c.792C>G (p.Ser264Arg)
NM_032444.4(SLX4):c.793G>A (p.Asp265Asn)
NM_032444.4(SLX4):c.793G>C (p.Asp265His)
NM_032444.4(SLX4):c.805G>T (p.Ala269Ser)
NM_032444.4(SLX4):c.80A>T (p.Asp27Val) rs1567178445
NM_032444.4(SLX4):c.822G>C (p.Gln274His) rs1367038373
NM_032444.4(SLX4):c.853GAT[1] (p.Asp286del) rs761185763
NM_032444.4(SLX4):c.864G>A (p.Leu288=)
NM_032444.4(SLX4):c.867G>C (p.Glu289Asp)
NM_032444.4(SLX4):c.86G>C (p.Arg29Pro)
NM_032444.4(SLX4):c.874G>C (p.Gly292Arg) rs780402573
NM_032444.4(SLX4):c.883T>C (p.Phe295Leu)
NM_032444.4(SLX4):c.8T>G (p.Leu3Arg)
NM_032444.4(SLX4):c.908T>C (p.Leu303Pro)
NM_032444.4(SLX4):c.943G>A (p.Val315Met)
NM_032444.4(SLX4):c.950+3G>C
NM_032444.4(SLX4):c.951G>A (p.Arg317=) rs1338514538
NM_032444.4(SLX4):c.956T>C (p.Leu319Ser) rs2151134190
NM_032444.4(SLX4):c.985_987del (p.Ser329del) rs1289726066
NM_032444.4(SLX4):c.988G>A (p.Val330Met) rs2040723281
NM_032444.4(SLX4):c.99C>G (p.Asp33Glu)
NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg) rs1831978153
NM_032888.4(COL27A1):c.3754G>T (p.Gly1252Cys)
NM_032888.4(COL27A1):c.4441G>A (p.Gly1481Ser)
NM_032888.4(COL27A1):c.4643C>G (p.Pro1548Arg)
NM_032888.4(COL27A1):c.62+4A>G rs1848097795
NM_032888.4(COL27A1):c.[295G>A;3056C>A]
NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg) rs747612049
NM_052854.4(CREB3L1):c.627del (p.Ser210fs)
NM_052854.4(CREB3L1):c.667C>T (p.Arg223Cys)
NM_052989.3(IFT122):c.*121G>T rs536919948
NM_052989.3(IFT122):c.*142C>G rs977256057
NM_052989.3(IFT122):c.*241C>G rs2084614746
NM_052989.3(IFT122):c.-22C>A rs551140180
NM_052989.3(IFT122):c.1008+3A>C
NM_052989.3(IFT122):c.108+4G>A rs1559838129
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
NM_052989.3(IFT122):c.109-7T>C
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe) rs2108292713
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1353G>T (p.Glu451Asp)
NM_052989.3(IFT122):c.1367G>T (p.Cys456Phe) rs1335391766
NM_052989.3(IFT122):c.1372T>G (p.Ser458Ala)
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys) rs1577642330
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
NM_052989.3(IFT122):c.1488G>A (p.Gln496=) rs2078432243
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr) rs2078655875
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys)
NM_052989.3(IFT122):c.1634C>G (p.Thr545Ser)
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
NM_052989.3(IFT122):c.1800C>T (p.Ser600=) rs886057965
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
NM_052989.3(IFT122):c.1862T>G (p.Met621Arg)
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)
NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)
NM_052989.3(IFT122):c.189G>A (p.Lys63=)
NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu)
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser) rs181971625
NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
NM_052989.3(IFT122):c.2303T>C (p.Val768Ala)
NM_052989.3(IFT122):c.2304G>A (p.Val768=) rs886057966
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
NM_052989.3(IFT122):c.2309T>G (p.Met770Arg)
NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe) rs139943115
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
NM_052989.3(IFT122):c.2512G>C (p.Val838Leu)
NM_052989.3(IFT122):c.2523C>T (p.His841=) rs780586191
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln) rs2081966365
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg) rs2082199852
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-334T>G
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) rs747428443
NM_052989.3(IFT122):c.2792-12T>A
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp) rs747843863
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu)
NM_052989.3(IFT122):c.2876A>G (p.His959Arg)
NM_052989.3(IFT122):c.2881C>G (p.His961Asp) rs1178500227
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
NM_052989.3(IFT122):c.2901T>G (p.Ser967Arg)
NM_052989.3(IFT122):c.2903T>G (p.Val968Gly)
NM_052989.3(IFT122):c.2909G>A (p.Arg970His)
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn) rs900548596
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3265+5G>A
NM_052989.3(IFT122):c.3268G>T (p.Val1090Leu)
NM_052989.3(IFT122):c.3308C>G (p.Thr1103Ser)
NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys)
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3391+6C>T rs2084139065
NM_052989.3(IFT122):c.3400A>G (p.Ile1134Val) rs754333037
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln) rs766429633
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_052989.3(IFT122):c.3586del (p.Arg1196fs) rs1560036538
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
NM_052989.3(IFT122):c.3636+3A>G rs753825998
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=) rs2084594582
NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr) rs1278478989
NM_052989.3(IFT122):c.416+19del rs2108102299
NM_052989.3(IFT122):c.42T>C (p.Cys14=)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.521G>C (p.Gly174Ala)
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg) rs769527595
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer) rs781766922
NM_052989.3(IFT122):c.556C>T (p.Pro186Ser) rs2108118912
NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)
NM_052989.3(IFT122):c.618T>G (p.Ile206Met) rs1320096747
NM_052989.3(IFT122):c.640A>G (p.Ile214Val)
NM_052989.3(IFT122):c.686A>C (p.Glu229Ala) rs1433055646
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup) rs2076877349
NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)
NM_052989.3(IFT122):c.757A>G (p.Ile253Val)
NM_052989.3(IFT122):c.760C>A (p.Leu254Met)
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
NM_052989.3(IFT122):c.806G>A (p.Ser269Asn) rs2108198145
NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
NM_052989.3(IFT122):c.852C>G (p.Cys284Trp) rs1268071941
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
NM_052989.3(IFT122):c.977C>T (p.Thr326Met) rs1389723772
NM_058216.3(RAD51C):c.-19G>T rs375889604
NM_058216.3(RAD51C):c.-3G>A rs864622151
NM_058216.3(RAD51C):c.1000_1002del (p.Glu334del)
NM_058216.3(RAD51C):c.1003T>C (p.Cys335Arg)
NM_058216.3(RAD51C):c.1004G>A (p.Cys335Tyr) rs786203846
NM_058216.3(RAD51C):c.1007C>T (p.Thr336Ile) rs2144045960
NM_058216.3(RAD51C):c.1009G>A (p.Val337Ile) rs2049473367
NM_058216.3(RAD51C):c.1009G>C (p.Val337Leu) rs2049473367
NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu) rs2049473367
NM_058216.3(RAD51C):c.100A>C (p.Thr34Pro) rs2143678482
NM_058216.3(RAD51C):c.1013_1024del (p.Leu338_Lys342delinsGln) rs780080251
NM_058216.3(RAD51C):c.101C>T (p.Thr34Ile) rs762230288
NM_058216.3(RAD51C):c.1021A>G (p.Ile341Val) rs2049473872
NM_058216.3(RAD51C):c.1026+4A>T
NM_058216.3(RAD51C):c.1026+5G>C
NM_058216.3(RAD51C):c.1027-10T>A rs2049558368
NM_058216.3(RAD51C):c.1027-1G>A rs1567818502
NM_058216.3(RAD51C):c.1027-1G>T rs1567818502
NM_058216.3(RAD51C):c.1027-2A>G rs587780835
NM_058216.3(RAD51C):c.1027-3C>G rs587782459
NM_058216.3(RAD51C):c.1027C>T (p.Pro343Ser) rs786201890
NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg) rs2049559202
NM_058216.3(RAD51C):c.1032G>C (p.Gln344His) rs876658609
NM_058216.3(RAD51C):c.1037T>C (p.Phe346Ser) rs1555605530
NM_058216.3(RAD51C):c.1038T>A (p.Phe346Leu) rs2144060353
NM_058216.3(RAD51C):c.103G>T (p.Ala35Ser) rs1432320770
NM_058216.3(RAD51C):c.1040G>T (p.Arg347Ile)
NM_058216.3(RAD51C):c.1042G>C (p.Asp348His)
NM_058216.3(RAD51C):c.1042G>T (p.Asp348Tyr) rs1555605533
NM_058216.3(RAD51C):c.1044T>G (p.Asp348Glu) rs2144060550
NM_058216.3(RAD51C):c.1045A>C (p.Thr349Pro)
NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala) rs1567818564
NM_058216.3(RAD51C):c.1048G>A (p.Val350Ile) rs1473651696
NM_058216.3(RAD51C):c.1048G>C (p.Val350Leu)
NM_058216.3(RAD51C):c.1048G>T (p.Val350Phe) rs1473651696
NM_058216.3(RAD51C):c.1048GTT[3] (p.Val351dup) rs2049560991
NM_058216.3(RAD51C):c.104C>G (p.Ala35Gly) rs1555592011
NM_058216.3(RAD51C):c.104C>T (p.Ala35Val) rs1555592011
NM_058216.3(RAD51C):c.1054A>T (p.Thr352Ser)
NM_058216.3(RAD51C):c.1058C>A (p.Ser353Tyr)
NM_058216.3(RAD51C):c.1060G>A (p.Ala354Thr) rs1060502590
NM_058216.3(RAD51C):c.1063T>C (p.Cys355Arg) rs587782426
NM_058216.3(RAD51C):c.1067C>T (p.Ser356Leu) rs773843495
NM_058216.3(RAD51C):c.1070T>G (p.Leu357Trp)
NM_058216.3(RAD51C):c.1072C>A (p.Gln358Lys)
NM_058216.3(RAD51C):c.1072C>G (p.Gln358Glu) rs2049563238
NM_058216.3(RAD51C):c.1073A>G (p.Gln358Arg) rs1567818677
NM_058216.3(RAD51C):c.1073A>T (p.Gln358Leu) rs1567818677
NM_058216.3(RAD51C):c.1074_1110del (p.Glu360fs) rs1343626760
NM_058216.3(RAD51C):c.1075A>G (p.Thr359Ala)
NM_058216.3(RAD51C):c.1075A>T (p.Thr359Ser) rs1368752573
NM_058216.3(RAD51C):c.1076C>T (p.Thr359Ile)
NM_058216.3(RAD51C):c.1082G>A (p.Gly361Asp) rs2049564193
NM_058216.3(RAD51C):c.1082G>T (p.Gly361Val)
NM_058216.3(RAD51C):c.1085C>T (p.Ser362Phe) rs2049564336
NM_058216.3(RAD51C):c.1088T>C (p.Leu363Ser) rs2144062004
NM_058216.3(RAD51C):c.1090A>C (p.Ser364Arg) rs587782565
NM_058216.3(RAD51C):c.1091G>A (p.Ser364Asn)
NM_058216.3(RAD51C):c.1092C>G (p.Ser364Arg) rs863224805
NM_058216.3(RAD51C):c.1093A>C (p.Thr365Pro) rs1350543873
NM_058216.3(RAD51C):c.1093A>T (p.Thr365Ser) rs1350543873
NM_058216.3(RAD51C):c.1094C>A (p.Thr365Asn) rs755838887
NM_058216.3(RAD51C):c.1094C>G (p.Thr365Ser) rs755838887
NM_058216.3(RAD51C):c.1094C>T (p.Thr365Ile) rs755838887
NM_058216.3(RAD51C):c.1097G>C (p.Arg366Pro) rs577852020
NM_058216.3(RAD51C):c.1098del (p.Lys367fs) rs2144062356
NM_058216.3(RAD51C):c.1099A>C (p.Lys367Gln) rs1598540332
NM_058216.3(RAD51C):c.109G>A (p.Glu37Lys)
NM_058216.3(RAD51C):c.109G>C (p.Glu37Gln) rs1064794145
NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)
NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln) rs1378390389
NM_058216.3(RAD51C):c.1103G>T (p.Arg368Leu) rs1378390389
NM_058216.3(RAD51C):c.1106C>T (p.Ser369Leu) rs2049566471
NM_058216.3(RAD51C):c.1108C>G (p.Arg370Gly)
NM_058216.3(RAD51C):c.1111G>A (p.Asp371Asn)
NM_058216.3(RAD51C):c.1111_1112del (p.Asp371fs)
NM_058216.3(RAD51C):c.1113C>A (p.Asp371Glu) rs1598540411
NM_058216.3(RAD51C):c.1113C>G (p.Asp371Glu) rs1598540411
NM_058216.3(RAD51C):c.1114C>A (p.Pro372Thr)
NM_058216.3(RAD51C):c.1120G>A (p.Glu374Lys) rs1598540478
NM_058216.3(RAD51C):c.1123G>A (p.Glu375Lys) rs1555605640
NM_058216.3(RAD51C):c.1126T>A (p.Leu376Ile) rs864622632
NM_058216.3(RAD51C):c.1127_1129del (p.Leu376del) rs1232402052
NM_058216.3(RAD51C):c.112C>T (p.Leu38Phe)
NM_058216.3(RAD51C):c.113T>C (p.Leu38Pro) rs1555592021
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val) rs759149207
NM_058216.3(RAD51C):c.116T>G (p.Leu39Arg)
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) rs786204086
NM_058216.3(RAD51C):c.119A>G (p.Glu40Gly) rs1555592039
NM_058216.3(RAD51C):c.11A>G (p.Lys4Arg) rs2047798678
NM_058216.3(RAD51C):c.120G>C (p.Glu40Asp) rs2143679565
NM_058216.3(RAD51C):c.121G>T (p.Val41Leu) rs879254131
NM_058216.3(RAD51C):c.122T>C (p.Val41Ala)
NM_058216.3(RAD51C):c.127C>A (p.Pro43Thr) rs1442559963
NM_058216.3(RAD51C):c.127C>G (p.Pro43Ala)
NM_058216.3(RAD51C):c.127C>T (p.Pro43Ser) rs1442559963
NM_058216.3(RAD51C):c.12G>C (p.Lys4Asn)
NM_058216.3(RAD51C):c.131C>A (p.Ser44Tyr)
NM_058216.3(RAD51C):c.131C>T (p.Ser44Phe)
NM_058216.3(RAD51C):c.132_133delinsTA (p.Glu45Lys) rs1555592076
NM_058216.3(RAD51C):c.133G>A (p.Glu45Lys)
NM_058216.3(RAD51C):c.134A>C (p.Glu45Ala) rs587781383
NM_058216.3(RAD51C):c.135G>C (p.Glu45Asp) rs371608994
NM_058216.3(RAD51C):c.136C>A (p.Leu46Ile) rs1423724305
NM_058216.3(RAD51C):c.137T>C (p.Leu46Pro)
NM_058216.3(RAD51C):c.139A>C (p.Ser47Arg) rs2047818737
NM_058216.3(RAD51C):c.139A>G (p.Ser47Gly) rs2047818737
NM_058216.3(RAD51C):c.13A>G (p.Thr5Ala)
NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser) rs1314517659
NM_058216.3(RAD51C):c.140G>A (p.Ser47Asn) rs2047818916
NM_058216.3(RAD51C):c.141C>A (p.Ser47Arg)
NM_058216.3(RAD51C):c.142A>G (p.Lys48Glu)
NM_058216.3(RAD51C):c.142_144del (p.Lys48del)
NM_058216.3(RAD51C):c.143A>G (p.Lys48Arg) rs2143680972
NM_058216.3(RAD51C):c.144A>G (p.Lys48=)
NM_058216.3(RAD51C):c.145+18C>T rs763292447
NM_058216.3(RAD51C):c.145+2_145+3insTT rs1567783294
NM_058216.3(RAD51C):c.145+3A>G rs536596205
NM_058216.3(RAD51C):c.145+4A>G rs1598449822
NM_058216.3(RAD51C):c.145+4dup
NM_058216.3(RAD51C):c.145G>A (p.Glu49Lys) rs753709131
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-3C>G rs765143155
NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg) rs201523760
NM_058216.3(RAD51C):c.151G>A (p.Gly51Arg)
NM_058216.3(RAD51C):c.152G>C (p.Gly51Ala) rs758236529
NM_058216.3(RAD51C):c.152G>T (p.Gly51Val) rs758236529
NM_058216.3(RAD51C):c.154A>G (p.Ile52Val) rs730881927
NM_058216.3(RAD51C):c.155T>A (p.Ile52Lys)
NM_058216.3(RAD51C):c.155T>G (p.Ile52Arg) rs2143717510
NM_058216.3(RAD51C):c.156A>G (p.Ile52Met) rs2047940282
NM_058216.3(RAD51C):c.157T>C (p.Ser53Pro) rs2047940381
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys) rs876659265
NM_058216.3(RAD51C):c.160A>G (p.Lys54Glu) rs2047940709
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr) rs1555593472
NM_058216.3(RAD51C):c.167A>G (p.Glu56Gly) rs1567785734
NM_058216.3(RAD51C):c.168A>T (p.Glu56Asp)
NM_058216.3(RAD51C):c.169G>A (p.Ala57Thr) rs1567785745
NM_058216.3(RAD51C):c.169G>T (p.Ala57Ser) rs1567785745
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val) rs749498443
NM_058216.3(RAD51C):c.170C>G (p.Ala57Gly) rs1598455307
NM_058216.3(RAD51C):c.175G>A (p.Glu59Lys) rs2143718252
NM_058216.3(RAD51C):c.178A>G (p.Thr60Ala) rs2047941918
NM_058216.3(RAD51C):c.17T>A (p.Phe6Tyr) rs771332058
NM_058216.3(RAD51C):c.17T>G (p.Phe6Cys) rs771332058
NM_058216.3(RAD51C):c.181_189del (p.Leu61_Ile63del)
NM_058216.3(RAD51C):c.186A>C (p.Gln62His) rs28363303
NM_058216.3(RAD51C):c.187A>G (p.Ile63Val) rs876659694
NM_058216.3(RAD51C):c.189_191del (p.Ile64del) rs1555593498
NM_058216.3(RAD51C):c.18C>A (p.Phe6Leu) rs774685897
NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu) rs774685897
NM_058216.3(RAD51C):c.190A>G (p.Ile64Val) rs770335248
NM_058216.3(RAD51C):c.190A>T (p.Ile64Phe) rs770335248
NM_058216.3(RAD51C):c.191T>C (p.Ile64Thr) rs1555593511
NM_058216.3(RAD51C):c.193A>G (p.Arg65Gly) rs1227348505
NM_058216.3(RAD51C):c.198A>T (p.Arg66Ser) rs1060502585
NM_058216.3(RAD51C):c.19C>G (p.Arg7Gly) rs759759863
NM_058216.3(RAD51C):c.19C>T (p.Arg7Cys) rs759759863
NM_058216.3(RAD51C):c.1A>T (p.Met1Leu) rs921435798
NM_058216.3(RAD51C):c.206T>C (p.Leu69Pro) rs1555593527
NM_058216.3(RAD51C):c.208A>T (p.Thr70Ser)
NM_058216.3(RAD51C):c.209C>T (p.Thr70Ile) rs1060502599
NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro) rs892567748
NM_058216.3(RAD51C):c.20G>T (p.Arg7Leu) rs892567748
NM_058216.3(RAD51C):c.211A>C (p.Asn71His) rs876659936
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr) rs876659936
NM_058216.3(RAD51C):c.212A>C (p.Asn71Thr) rs1598455555
NM_058216.3(RAD51C):c.212A>G (p.Asn71Ser) rs1598455555
NM_058216.3(RAD51C):c.217C>A (p.Pro73Thr) rs1555593541
NM_058216.3(RAD51C):c.217C>G (p.Pro73Ala) rs1555593541
NM_058216.3(RAD51C):c.217C>T (p.Pro73Ser) rs1555593541
NM_058216.3(RAD51C):c.221G>A (p.Arg74Lys) rs2143720177
NM_058216.3(RAD51C):c.222A>C (p.Arg74Ser)
NM_058216.3(RAD51C):c.222A>G (p.Arg74=) rs2047945471
NM_058216.3(RAD51C):c.224A>G (p.Tyr75Cys) rs2047945655
NM_058216.3(RAD51C):c.224A>T (p.Tyr75Phe)
NM_058216.3(RAD51C):c.226G>A (p.Ala76Thr) rs1598455619
NM_058216.3(RAD51C):c.227C>A (p.Ala76Asp) rs760175119
NM_058216.3(RAD51C):c.227C>G (p.Ala76Gly) rs760175119
NM_058216.3(RAD51C):c.229G>T (p.Gly77Cys) rs2143720670
NM_058216.3(RAD51C):c.22T>A (p.Phe8Ile)
NM_058216.3(RAD51C):c.22T>C (p.Phe8Leu)
NM_058216.3(RAD51C):c.230G>C (p.Gly77Ala) rs1449359018
NM_058216.3(RAD51C):c.235T>A (p.Ser79Thr) rs1567786001
NM_058216.3(RAD51C):c.235T>G (p.Ser79Ala)
NM_058216.3(RAD51C):c.236C>G (p.Ser79Cys)
NM_058216.3(RAD51C):c.236C>T (p.Ser79Phe) rs1555593569
NM_058216.3(RAD51C):c.240G>T (p.Glu80Asp) rs779053608
NM_058216.3(RAD51C):c.242C>T (p.Ser81Leu) rs1555593587
NM_058216.3(RAD51C):c.244C>T (p.His82Tyr) rs1555593593
NM_058216.3(RAD51C):c.245A>G (p.His82Arg) rs1555593600
NM_058216.3(RAD51C):c.246C>G (p.His82Gln) rs1555593602
NM_058216.3(RAD51C):c.247A>G (p.Lys83Glu) rs2047947712
NM_058216.3(RAD51C):c.248A>C (p.Lys83Thr) rs1333679774
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.251A>G (p.Lys84Arg) rs1372016419
NM_058216.3(RAD51C):c.253T>G (p.Cys85Gly) rs1060502595
NM_058216.3(RAD51C):c.254G>A (p.Cys85Tyr) rs1555593627
NM_058216.3(RAD51C):c.254G>T (p.Cys85Phe)
NM_058216.3(RAD51C):c.256A>G (p.Thr86Ala)
NM_058216.3(RAD51C):c.257C>A (p.Thr86Lys)
NM_058216.3(RAD51C):c.257C>T (p.Thr86Ile) rs876658986
NM_058216.3(RAD51C):c.259G>A (p.Ala87Thr) rs1598455803
NM_058216.3(RAD51C):c.259G>T (p.Ala87Ser) rs1598455803
NM_058216.3(RAD51C):c.260C>A (p.Ala87Glu) rs1567786127
NM_058216.3(RAD51C):c.262C>G (p.Leu88Val) rs786201383
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys) rs876658197
NM_058216.3(RAD51C):c.265G>C (p.Glu89Gln) rs876658197
NM_058216.3(RAD51C):c.266A>G (p.Glu89Gly) rs2047949402
NM_058216.3(RAD51C):c.268C>T (p.Leu90Phe) rs876659585
NM_058216.3(RAD51C):c.269T>G (p.Leu90Arg) rs1064793934
NM_058216.3(RAD51C):c.26A>T (p.Glu9Val) rs2143673258
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe) rs1555593653
NM_058216.3(RAD51C):c.274G>A (p.Glu92Lys) rs765304898
NM_058216.3(RAD51C):c.278A>C (p.Gln93Pro)
NM_058216.3(RAD51C):c.278A>G (p.Gln93Arg)
NM_058216.3(RAD51C):c.280G>A (p.Glu94Lys) rs1277411638
NM_058216.3(RAD51C):c.283C>T (p.His95Tyr) rs1317173760
NM_058216.3(RAD51C):c.284A>C (p.His95Pro) rs1567786210
NM_058216.3(RAD51C):c.284A>G (p.His95Arg)
NM_058216.3(RAD51C):c.285T>G (p.His95Gln) rs1555593678
NM_058216.3(RAD51C):c.286A>G (p.Thr96Ala)
NM_058216.3(RAD51C):c.287C>T (p.Thr96Ile)
NM_058216.3(RAD51C):c.289C>G (p.Gln97Glu) rs1567786232
NM_058216.3(RAD51C):c.28A>G (p.Met10Val)
NM_058216.3(RAD51C):c.290A>G (p.Gln97Arg) rs2047951391
NM_058216.3(RAD51C):c.291G>C (p.Gln97His)
NM_058216.3(RAD51C):c.293G>C (p.Gly98Ala) rs1060502586
NM_058216.3(RAD51C):c.293G>T (p.Gly98Val) rs1060502586
NM_058216.3(RAD51C):c.296_297delinsCT (p.Phe99Ser) rs1555593696
NM_058216.3(RAD51C):c.298A>G (p.Ile100Val)
NM_058216.3(RAD51C):c.299T>A (p.Ile100Lys) rs1567786268
NM_058216.3(RAD51C):c.29T>A (p.Met10Lys)
NM_058216.3(RAD51C):c.29T>C (p.Met10Thr) rs730881936
NM_058216.3(RAD51C):c.301A>G (p.Ile101Val) rs1555593699
NM_058216.3(RAD51C):c.304A>G (p.Thr102Ala) rs2143723786
NM_058216.3(RAD51C):c.305C>A (p.Thr102Asn) rs755106004
NM_058216.3(RAD51C):c.305C>T (p.Thr102Ile) rs755106004
NM_058216.3(RAD51C):c.307T>C (p.Phe103Leu) rs1114167446
NM_058216.3(RAD51C):c.308_310del (p.Phe103del) rs1064794253
NM_058216.3(RAD51C):c.309C>G (p.Phe103Leu) rs1484551212
NM_058216.3(RAD51C):c.30G>T (p.Met10Ile) rs775871420
NM_058216.3(RAD51C):c.311G>A (p.Cys104Tyr) rs1598456075
NM_058216.3(RAD51C):c.316G>A (p.Ala106Thr) rs2143724307
NM_058216.3(RAD51C):c.317C>G (p.Ala106Gly)
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val) rs1060502594
NM_058216.3(RAD51C):c.319C>G (p.Leu107Val)
NM_058216.3(RAD51C):c.322G>C (p.Asp108His) rs1567786361
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly) rs1555593745
NM_058216.3(RAD51C):c.325G>T (p.Asp109Tyr) rs778313181
NM_058216.3(RAD51C):c.326A>G (p.Asp109Gly)
NM_058216.3(RAD51C):c.328A>G (p.Ile110Val)
NM_058216.3(RAD51C):c.329T>G (p.Ile110Ser) rs1555593751
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg) rs730881937
NM_058216.3(RAD51C):c.331C>G (p.Leu111Val) rs1402638488
NM_058216.3(RAD51C):c.332T>C (p.Leu111Pro)
NM_058216.3(RAD51C):c.334G>T (p.Gly112Trp)
NM_058216.3(RAD51C):c.335G>A (p.Gly112Glu) rs370212314
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.337G>C (p.Gly113Arg) rs2047954842
NM_058216.3(RAD51C):c.337G>T (p.Gly113Cys) rs2047954842
NM_058216.3(RAD51C):c.338G>A (p.Gly113Asp) rs2047954937
NM_058216.3(RAD51C):c.33G>C (p.Gln11His)
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val) rs1555593767
NM_058216.3(RAD51C):c.343G>A (p.Val115Met) rs1202473484
NM_058216.3(RAD51C):c.343G>C (p.Val115Leu)
NM_058216.3(RAD51C):c.344T>C (p.Val115Ala) rs779104845
NM_058216.3(RAD51C):c.346C>T (p.Pro116Ser)
NM_058216.3(RAD51C):c.347C>A (p.Pro116His) rs2047955710
NM_058216.3(RAD51C):c.347C>G (p.Pro116Arg) rs2047955710
NM_058216.3(RAD51C):c.347C>T (p.Pro116Leu)
NM_058216.3(RAD51C):c.34C>G (p.Arg12Gly) rs28910276
NM_058216.3(RAD51C):c.350T>C (p.Leu117Ser) rs1598456283
NM_058216.3(RAD51C):c.352A>G (p.Met118Val) rs2143725777
NM_058216.3(RAD51C):c.356A>G (p.Lys119Arg) rs2047956106
NM_058216.3(RAD51C):c.358ACA[1] (p.Thr121del) rs1555593808
NM_058216.3(RAD51C):c.362C>T (p.Thr121Ile) rs2047956659
NM_058216.3(RAD51C):c.367A>G (p.Ile123Val) rs1555593841
NM_058216.3(RAD51C):c.370T>G (p.Cys124Gly) rs1273995533
NM_058216.3(RAD51C):c.371G>C (p.Cys124Ser) rs2143726574
NM_058216.3(RAD51C):c.371G>T (p.Cys124Phe) rs2143726574
NM_058216.3(RAD51C):c.373G>A (p.Gly125Ser) rs142058115
NM_058216.3(RAD51C):c.374G>A (p.Gly125Asp) rs267606998
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val) rs1555593858
NM_058216.3(RAD51C):c.379C>G (p.Pro127Ala)
NM_058216.3(RAD51C):c.379C>T (p.Pro127Ser) rs587782222
NM_058216.3(RAD51C):c.37G>A (p.Asp13Asn) rs1060502603
NM_058216.3(RAD51C):c.37G>C (p.Asp13His) rs1060502603
NM_058216.3(RAD51C):c.380C>G (p.Pro127Arg)
NM_058216.3(RAD51C):c.380C>T (p.Pro127Leu)
NM_058216.3(RAD51C):c.382G>C (p.Gly128Arg) rs879254160
NM_058216.3(RAD51C):c.383G>T (p.Gly128Val)
NM_058216.3(RAD51C):c.386T>C (p.Val129Ala) rs876660641
NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala) rs2047958982
NM_058216.3(RAD51C):c.391A>C (p.Lys131Gln) rs2143727680
NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile) rs762761380
NM_058216.3(RAD51C):c.395C>A (p.Thr132Lys)
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg) rs730881930
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys) rs387907159
NM_058216.3(RAD51C):c.398A>C (p.Gln133Pro)
NM_058216.3(RAD51C):c.3G>C (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.401T>C (p.Leu134Ser) rs1233795152
NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg) rs878855178
NM_058216.3(RAD51C):c.404+13G>A rs547506164
NM_058216.3(RAD51C):c.404+3A>G rs1060502598
NM_058216.3(RAD51C):c.404+6A>G rs2047961180
NM_058216.3(RAD51C):c.404+6_404+10del rs757693213
NM_058216.3(RAD51C):c.404+8A>G
NM_058216.3(RAD51C):c.405-3C>G rs770815835
NM_058216.3(RAD51C):c.405-3C>T rs770815835
NM_058216.3(RAD51C):c.405-6T>A rs1064793245
NM_058216.3(RAD51C):c.405T>G (p.Cys135Trp)
NM_058216.3(RAD51C):c.406A>G (p.Met136Val)
NM_058216.3(RAD51C):c.407T>G (p.Met136Arg) rs2048021034
NM_058216.3(RAD51C):c.408G>T (p.Met136Ile) rs587780836
NM_058216.3(RAD51C):c.410A>T (p.Gln137Leu) rs1555594548
NM_058216.3(RAD51C):c.411G>T (p.Gln137His) rs1555594552
NM_058216.3(RAD51C):c.415G>A (p.Ala139Thr) rs2048021584
NM_058216.3(RAD51C):c.415G>C (p.Ala139Pro) rs2048021584
NM_058216.3(RAD51C):c.416C>T (p.Ala139Val) rs1567788274
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile) rs730881938
NM_058216.3(RAD51C):c.419T>A (p.Val140Glu) rs767247010
NM_058216.3(RAD51C):c.421G>A (p.Asp141Asn) rs587780837
NM_058216.3(RAD51C):c.422A>G (p.Asp141Gly) rs376494695
NM_058216.3(RAD51C):c.423T>G (p.Asp141Glu) rs2048022400
NM_058216.3(RAD51C):c.425T>C (p.Val142Ala) rs2143744027
NM_058216.3(RAD51C):c.430A>T (p.Ile144Leu) rs1271229750
NM_058216.3(RAD51C):c.433C>A (p.Pro145Thr) rs1555594594
NM_058216.3(RAD51C):c.433C>T (p.Pro145Ser) rs1555594594
NM_058216.3(RAD51C):c.439T>C (p.Cys147Arg) rs2048023614
NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr) rs764177838
NM_058216.3(RAD51C):c.443T>C (p.Phe148Ser) rs864622580
NM_058216.3(RAD51C):c.446G>A (p.Gly149Glu) rs1555594622
NM_058216.3(RAD51C):c.446GAG[1] (p.Gly150del) rs2048024043
NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg) rs553112850
NM_058216.3(RAD51C):c.44T>C (p.Val15Ala) rs1060502593
NM_058216.3(RAD51C):c.44T>G (p.Val15Gly) rs1060502593
NM_058216.3(RAD51C):c.454G>A (p.Ala152Thr) rs1555594643
NM_058216.3(RAD51C):c.454G>T (p.Ala152Ser) rs1555594643
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr) rs755879664
NM_058216.3(RAD51C):c.464C>G (p.Ala155Gly) rs777452778
NM_058216.3(RAD51C):c.467T>A (p.Val156Asp) rs1435180142
NM_058216.3(RAD51C):c.46A>T (p.Ser16Cys)
NM_058216.3(RAD51C):c.470T>G (p.Phe157Cys) rs1555594699
NM_058216.3(RAD51C):c.473T>C (p.Ile158Thr) rs1394901462
NM_058216.3(RAD51C):c.476A>C (p.Asp159Ala) rs1555594714
NM_058216.3(RAD51C):c.476A>T (p.Asp159Val)
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu) rs760436864
NM_058216.3(RAD51C):c.47G>A (p.Ser16Asn) rs1555591843
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val) rs1555594725
NM_058216.3(RAD51C):c.483G>T (p.Glu161Asp) rs1188093917
NM_058216.3(RAD51C):c.484G>A (p.Gly162Arg)
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu) rs35151472
NM_058216.3(RAD51C):c.488G>A (p.Ser163Asn) rs1235906176
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg) rs876659719
NM_058216.3(RAD51C):c.48T>C (p.Ser16=)
NM_058216.3(RAD51C):c.490T>G (p.Phe164Val) rs1555594754
NM_058216.3(RAD51C):c.491T>C (p.Phe164Ser) rs1060502589
NM_058216.3(RAD51C):c.493A>G (p.Met165Val) rs1555594766
NM_058216.3(RAD51C):c.494T>C (p.Met165Thr) rs1598460523
NM_058216.3(RAD51C):c.495G>A (p.Met165Ile) rs1567788704
NM_058216.3(RAD51C):c.499G>C (p.Asp167His) rs1555594778
NM_058216.3(RAD51C):c.499_501del (p.Asp167del) rs2143747370
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) rs758029117
NM_058216.3(RAD51C):c.500A>G (p.Asp167Gly) rs1598460593
NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly) rs587781490
NM_058216.3(RAD51C):c.503G>A (p.Arg168Lys)
NM_058216.3(RAD51C):c.505G>A (p.Val169Met)
NM_058216.3(RAD51C):c.508G>A (p.Val170Ile) rs2048030325
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser) rs1411454855
NM_058216.3(RAD51C):c.50T>G (p.Phe17Cys) rs1411454855
NM_058216.3(RAD51C):c.511G>A (p.Asp171Asn) rs2143747843
NM_058216.3(RAD51C):c.513C>A (p.Asp171Glu) rs140279158
NM_058216.3(RAD51C):c.514C>T (p.Leu172Phe) rs876660732
NM_058216.3(RAD51C):c.515T>G (p.Leu172Arg)
NM_058216.3(RAD51C):c.51C>A (p.Phe17Leu) rs1598448876
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala) rs864622278
NM_058216.3(RAD51C):c.521C>T (p.Thr174Ile) rs2048031047
NM_058216.3(RAD51C):c.523G>T (p.Ala175Ser) rs587780838
NM_058216.3(RAD51C):c.526T>C (p.Cys176Arg) rs2048031436
NM_058216.3(RAD51C):c.529A>G (p.Ile177Val) rs786201828
NM_058216.3(RAD51C):c.532C>A (p.Gln178Lys) rs1555594861
NM_058216.3(RAD51C):c.533A>G (p.Gln178Arg) rs1598460753
NM_058216.3(RAD51C):c.534G>T (p.Gln178His) rs1567788846
NM_058216.3(RAD51C):c.535C>A (p.His179Asn)
NM_058216.3(RAD51C):c.539T>G (p.Leu180Arg) rs1555594869
NM_058216.3(RAD51C):c.53C>A (p.Pro18Gln) rs754498936
NM_058216.3(RAD51C):c.53C>G (p.Pro18Arg) rs754498936
NM_058216.3(RAD51C):c.542A>G (p.Gln181Arg) rs1064796060
NM_058216.3(RAD51C):c.543G>C (p.Gln181His)
NM_058216.3(RAD51C):c.554A>G (p.Glu185Gly) rs2143749539
NM_058216.3(RAD51C):c.556A>G (p.Lys186Glu) rs1363104728
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup) rs776534031
NM_058216.3(RAD51C):c.559C>G (p.His187Asp)
NM_058216.3(RAD51C):c.560A>G (p.His187Arg)
NM_058216.3(RAD51C):c.561C>A (p.His187Gln) rs2048033583
NM_058216.3(RAD51C):c.561C>G (p.His187Gln)
NM_058216.3(RAD51C):c.562A>G (p.Lys188Glu)
NM_058216.3(RAD51C):c.564G>T (p.Lys188Asn) rs876658264
NM_058216.3(RAD51C):c.565G>A (p.Gly189Arg) rs1330937621
NM_058216.3(RAD51C):c.566G>A (p.Gly189Glu) rs1240012999
NM_058216.3(RAD51C):c.568G>A (p.Glu190Lys) rs779932777
NM_058216.3(RAD51C):c.56T>A (p.Leu19Gln)
NM_058216.3(RAD51C):c.56T>C (p.Leu19Pro) rs1598448973
NM_058216.3(RAD51C):c.570G>C (p.Glu190Asp)
NM_058216.3(RAD51C):c.571+3_571+6del
NM_058216.3(RAD51C):c.571+6T>G rs1598461030
NM_058216.3(RAD51C):c.571+7T>A
NM_058216.3(RAD51C):c.572-3C>G rs1567794089
NM_058216.3(RAD51C):c.572-3C>T rs1567794089
NM_058216.3(RAD51C):c.572-5T>C
NM_058216.3(RAD51C):c.576C>A (p.His192Gln) rs2143796505
NM_058216.3(RAD51C):c.576C>G (p.His192Gln)
NM_058216.3(RAD51C):c.577C>G (p.Arg193Gly)
NM_058216.3(RAD51C):c.583G>A (p.Ala195Thr) rs1060502600
NM_058216.3(RAD51C):c.589G>A (p.Glu197Lys) rs1555597094
NM_058216.3(RAD51C):c.592G>T (p.Asp198Tyr) rs2143797075
NM_058216.3(RAD51C):c.593A>G (p.Asp198Gly) rs2048269455
NM_058216.3(RAD51C):c.598A>G (p.Thr200Ala) rs1369125082
NM_058216.3(RAD51C):c.59C>A (p.Ser20Tyr) rs786203944
NM_058216.3(RAD51C):c.59C>G (p.Ser20Cys) rs786203944
NM_058216.3(RAD51C):c.59C>T (p.Ser20Phe) rs786203944
NM_058216.3(RAD51C):c.5G>A (p.Arg2His) rs2047797645
NM_058216.3(RAD51C):c.601C>T (p.Leu201Phe)
NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro) rs587780839
NM_058216.3(RAD51C):c.602T>G (p.Leu201Arg)
NM_058216.3(RAD51C):c.605A>G (p.Asp202Gly) rs1060502591
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu) rs2048270218
NM_058216.3(RAD51C):c.608A>G (p.Asn203Ser)
NM_058216.3(RAD51C):c.610A>G (p.Ile204Val) rs1598473225
NM_058216.3(RAD51C):c.617C>A (p.Ser206Tyr)
NM_058216.3(RAD51C):c.61C>A (p.Pro21Thr)
NM_058216.3(RAD51C):c.61C>G (p.Pro21Ala) rs752608224
NM_058216.3(RAD51C):c.61C>T (p.Pro21Ser) rs752608224
NM_058216.3(RAD51C):c.620A>T (p.His207Leu)
NM_058216.3(RAD51C):c.622A>T (p.Ile208Phe)
NM_058216.3(RAD51C):c.623T>G (p.Ile208Ser) rs1598473279
NM_058216.3(RAD51C):c.624T>G (p.Ile208Met) rs775006411
NM_058216.3(RAD51C):c.625T>G (p.Tyr209Asp) rs2143798413
NM_058216.3(RAD51C):c.626A>T (p.Tyr209Phe) rs1017384420
NM_058216.3(RAD51C):c.629A>G (p.Tyr210Cys) rs1598473310
NM_058216.3(RAD51C):c.631T>C (p.Phe211Leu) rs2048271607
NM_058216.3(RAD51C):c.634C>A (p.Arg212Ser) rs137947462
NM_058216.3(RAD51C):c.634C>G (p.Arg212Gly) rs137947462
NM_058216.3(RAD51C):c.635G>T (p.Arg212Leu) rs200857129
NM_058216.3(RAD51C):c.637T>C (p.Cys213Arg)
NM_058216.3(RAD51C):c.638G>C (p.Cys213Ser) rs2143798852
NM_058216.3(RAD51C):c.645C>G (p.Asp215Glu) rs2143799278
NM_058216.3(RAD51C):c.647A>G (p.Tyr216Cys) rs746755735
NM_058216.3(RAD51C):c.649A>C (p.Thr217Pro)
NM_058216.3(RAD51C):c.649A>G (p.Thr217Ala) rs1555597189
NM_058216.3(RAD51C):c.649A>T (p.Thr217Ser) rs1555597189
NM_058216.3(RAD51C):c.658C>G (p.Leu220Val)
NM_058216.3(RAD51C):c.659T>C (p.Leu220Pro)
NM_058216.3(RAD51C):c.65C>G (p.Ala22Gly)
NM_058216.3(RAD51C):c.667G>A (p.Val223Ile) rs876660177
NM_058216.3(RAD51C):c.670_705+64dup rs1555597210
NM_058216.3(RAD51C):c.671A>G (p.Tyr224Cys) rs730881924
NM_058216.3(RAD51C):c.672_705+65dup rs1555597214
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro) rs1032681872
NM_058216.3(RAD51C):c.674TTC[1] (p.Leu226del) rs1555597217
NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro) rs1225858240
NM_058216.3(RAD51C):c.679C>T (p.Pro227Ser) rs958242201
NM_058216.3(RAD51C):c.67G>A (p.Val23Met) rs1386696811
NM_058216.3(RAD51C):c.67G>C (p.Val23Leu) rs1386696811
NM_058216.3(RAD51C):c.683A>G (p.Asp228Gly) rs2048274960
NM_058216.3(RAD51C):c.683A>T (p.Asp228Val) rs2048274960
NM_058216.3(RAD51C):c.685T>A (p.Phe229Ile)
NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe) rs751528808
NM_058216.3(RAD51C):c.68T>C (p.Val23Ala)
NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu) rs1060502588
NM_058216.3(RAD51C):c.694G>A (p.Glu232Lys) rs2143801948
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp) rs786201177
NM_058216.3(RAD51C):c.697C>T (p.His233Tyr) rs2143802148
NM_058216.3(RAD51C):c.698A>C (p.His233Pro)
NM_058216.3(RAD51C):c.698A>G (p.His233Arg) rs754895072
NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu) rs1555597252
NM_058216.3(RAD51C):c.705+3A>G rs878855179
NM_058216.3(RAD51C):c.705+3A>T rs878855179
NM_058216.3(RAD51C):c.705+4T>G rs778157321
NM_058216.3(RAD51C):c.705+6A>C
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-9T>A rs1060504671
NM_058216.3(RAD51C):c.706-9T>G rs1060504671
NM_058216.3(RAD51C):c.706G>T (p.Val236Phe) rs2143849926
NM_058216.3(RAD51C):c.707T>A (p.Val236Asp) rs1555599091
NM_058216.3(RAD51C):c.70C>G (p.Arg24Gly) rs878855180
NM_058216.3(RAD51C):c.70C>T (p.Arg24Trp) rs878855180
NM_058216.3(RAD51C):c.710G>C (p.Arg237Pro) rs370393672
NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)
NM_058216.3(RAD51C):c.713T>C (p.Leu238Pro) rs1060502606
NM_058216.3(RAD51C):c.713T>G (p.Leu238Arg) rs1060502606
NM_058216.3(RAD51C):c.715G>C (p.Val239Leu) rs1064795326
NM_058216.3(RAD51C):c.715G>T (p.Val239Leu) rs1064795326
NM_058216.3(RAD51C):c.716T>A (p.Val239Glu) rs1064795220
NM_058216.3(RAD51C):c.718A>G (p.Ile240Val) rs863224806
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu) rs863224806
NM_058216.3(RAD51C):c.71G>A (p.Arg24Gln) rs777554369
NM_058216.3(RAD51C):c.71G>T (p.Arg24Leu) rs777554369
NM_058216.3(RAD51C):c.71_85dup (p.Val28_Ser29insTrpValLysLeuVal) rs1598449114
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.725A>G (p.Asp242Gly) rs2048494505
NM_058216.3(RAD51C):c.725A>T (p.Asp242Val) rs2048494505
NM_058216.3(RAD51C):c.727G>A (p.Gly243Ser) rs2048494596
NM_058216.3(RAD51C):c.728G>A (p.Gly243Asp)
NM_058216.3(RAD51C):c.728G>C (p.Gly243Ala)
NM_058216.3(RAD51C):c.730A>T (p.Ile244Phe) rs199886026
NM_058216.3(RAD51C):c.732T>G (p.Ile244Met) rs2048495083
NM_058216.3(RAD51C):c.734C>T (p.Ala245Val) rs1555599151
NM_058216.3(RAD51C):c.73G>C (p.Val25Leu) rs757116652
NM_058216.3(RAD51C):c.73G>T (p.Val25Leu) rs757116652
NM_058216.3(RAD51C):c.742T>C (p.Phe248Leu) rs876659496
NM_058216.3(RAD51C):c.744T>G (p.Phe248Leu)
NM_058216.3(RAD51C):c.745C>G (p.Arg249Gly) rs28363311
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys) rs28363311
NM_058216.3(RAD51C):c.748C>G (p.His250Asp) rs531540031
NM_058216.3(RAD51C):c.749A>G (p.His250Arg) rs1060502597
NM_058216.3(RAD51C):c.74T>C (p.Val25Ala) rs2047809263
NM_058216.3(RAD51C):c.752A>G (p.Asp251Gly) rs2048496443
NM_058216.3(RAD51C):c.755T>A (p.Leu252Gln) rs2048496750
NM_058216.3(RAD51C):c.757G>C (p.Asp253His)
NM_058216.3(RAD51C):c.764T>C (p.Leu255Pro) rs1567799667
NM_058216.3(RAD51C):c.767C>G (p.Ser256Cys) rs2143852373
NM_058216.3(RAD51C):c.773G>C (p.Arg258Pro) rs267606997
NM_058216.3(RAD51C):c.773G>T (p.Arg258Leu) rs267606997
NM_058216.3(RAD51C):c.775A>G (p.Thr259Ala) rs779954908
NM_058216.3(RAD51C):c.775A>T (p.Thr259Ser) rs779954908
NM_058216.3(RAD51C):c.779G>C (p.Arg260Pro) rs730881926
NM_058216.3(RAD51C):c.788A>G (p.Asn263Ser) rs935771120
NM_058216.3(RAD51C):c.791G>T (p.Gly264Val) rs1283065191
NM_058216.3(RAD51C):c.793C>A (p.Leu265Ile) rs759072716
NM_058216.3(RAD51C):c.797C>A (p.Ala266Asp) rs1555599239
NM_058216.3(RAD51C):c.797C>T (p.Ala266Val) rs1555599239
NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg) rs376403182
NM_058216.3(RAD51C):c.7G>T (p.Gly3Trp) rs376403182
NM_058216.3(RAD51C):c.801G>C (p.Gln267His) rs2048499866
NM_058216.3(RAD51C):c.802C>A (p.Gln268Lys) rs1567799818
NM_058216.3(RAD51C):c.803A>G (p.Gln268Arg) rs1064794654
NM_058216.3(RAD51C):c.805A>G (p.Met269Val) rs878855181
NM_058216.3(RAD51C):c.805A>T (p.Met269Leu) rs878855181
NM_058216.3(RAD51C):c.808A>G (p.Ile270Val) rs1555599250
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro) rs587781309
NM_058216.3(RAD51C):c.810C>G (p.Ile270Met) rs1555599252
NM_058216.3(RAD51C):c.811A>G (p.Ser271Gly) rs1555599256
NM_058216.3(RAD51C):c.812G>A (p.Ser271Asn) rs1060502596
NM_058216.3(RAD51C):c.814C>T (p.Leu272Phe)
NM_058216.3(RAD51C):c.817G>C (p.Ala273Pro) rs1598484818
NM_058216.3(RAD51C):c.818C>T (p.Ala273Val) rs1555599262
NM_058216.3(RAD51C):c.820A>G (p.Asn274Asp)
NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser) rs1598484851
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys) rs2048501654
NM_058216.3(RAD51C):c.826C>A (p.His276Asn) rs1567799906
NM_058216.3(RAD51C):c.826C>T (p.His276Tyr) rs1567799906
NM_058216.3(RAD51C):c.827A>C (p.His276Pro) rs1567799913
NM_058216.3(RAD51C):c.82G>A (p.Val28Met) rs1060502587
NM_058216.3(RAD51C):c.82G>C (p.Val28Leu) rs1060502587
NM_058216.3(RAD51C):c.830G>C (p.Arg277Thr)
NM_058216.3(RAD51C):c.831A>G (p.Arg277=)
NM_058216.3(RAD51C):c.831A>T (p.Arg277Ser)
NM_058216.3(RAD51C):c.833T>C (p.Leu278Ser) rs1555599274
NM_058216.3(RAD51C):c.835G>A (p.Ala279Thr)
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro) rs587782507
NM_058216.3(RAD51C):c.836C>G (p.Ala279Gly) rs2048502472
NM_058216.3(RAD51C):c.837+2dup rs2048502931
NM_058216.3(RAD51C):c.837+4A>G
NM_058216.3(RAD51C):c.837+4del rs1598484905
NM_058216.3(RAD51C):c.837+5G>C rs1567799952
NM_058216.3(RAD51C):c.837T>C (p.Ala279=)
NM_058216.3(RAD51C):c.838G>A (p.Val280Ile) rs876660718
NM_058216.3(RAD51C):c.841A>G (p.Ile281Val) rs1439877158
NM_058216.3(RAD51C):c.850A>G (p.Asn284Asp) rs1555602090
NM_058216.3(RAD51C):c.851A>G (p.Asn284Ser) rs1555602095
NM_058216.3(RAD51C):c.852T>G (p.Asn284Lys) rs2143930037
NM_058216.3(RAD51C):c.854A>G (p.Gln285Arg) rs876660018
NM_058216.3(RAD51C):c.855G>C (p.Gln285His) rs876660369
NM_058216.3(RAD51C):c.855G>T (p.Gln285His) rs876660369
NM_058216.3(RAD51C):c.856A>G (p.Met286Val) rs1567808196
NM_058216.3(RAD51C):c.858G>C (p.Met286Ile) rs2048890830
NM_058216.3(RAD51C):c.859A>C (p.Thr287Pro) rs28363317
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala) rs587781574
NM_058216.3(RAD51C):c.863C>G (p.Thr288Arg) rs2143930483
NM_058216.3(RAD51C):c.865A>G (p.Lys289Glu)
NM_058216.3(RAD51C):c.866A>G (p.Lys289Arg) rs1390237532
NM_058216.3(RAD51C):c.868A>T (p.Ile290Phe) rs2048891385
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe) rs876659683
NM_058216.3(RAD51C):c.870T>G (p.Ile290Met) rs376402418
NM_058216.3(RAD51C):c.872A>T (p.Asp291Val) rs1555602124
NM_058216.3(RAD51C):c.873T>G (p.Asp291Glu) rs1288802398
NM_058216.3(RAD51C):c.874A>G (p.Arg292Gly) rs775208053
NM_058216.3(RAD51C):c.875G>A (p.Arg292Lys)
NM_058216.3(RAD51C):c.876A>C (p.Arg292Ser)
NM_058216.3(RAD51C):c.877A>C (p.Asn293His) rs1567808290
NM_058216.3(RAD51C):c.878A>G (p.Asn293Ser) rs1246031520
NM_058216.3(RAD51C):c.87T>C (p.Ser29=) rs786203249
NM_058216.3(RAD51C):c.883G>T (p.Ala295Ser) rs746571208
NM_058216.3(RAD51C):c.884C>A (p.Ala295Asp)
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly) rs1555602136
NM_058216.3(RAD51C):c.884C>T (p.Ala295Val) rs1555602136
NM_058216.3(RAD51C):c.886T>G (p.Leu296Val)
NM_058216.3(RAD51C):c.88G>C (p.Ala30Pro) rs1331134740
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser) rs1331134740
NM_058216.3(RAD51C):c.890T>G (p.Leu297Arg) rs143026267
NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)
NM_058216.3(RAD51C):c.896C>T (p.Pro299Leu) rs878855182
NM_058216.3(RAD51C):c.898G>T (p.Ala300Ser) rs2048893581
NM_058216.3(RAD51C):c.899C>A (p.Ala300Glu) rs1444333199
NM_058216.3(RAD51C):c.89C>T (p.Ala30Val) rs1000113630
NM_058216.3(RAD51C):c.8G>A (p.Gly3Glu) rs1555591761
NM_058216.3(RAD51C):c.8G>C (p.Gly3Ala) rs1555591761
NM_058216.3(RAD51C):c.903A>C (p.Leu301Phe) rs761799817
NM_058216.3(RAD51C):c.904+3G>A
NM_058216.3(RAD51C):c.904+3G>T rs1290236617
NM_058216.3(RAD51C):c.904+4G>A
NM_058216.3(RAD51C):c.904+4G>T rs2048894318
NM_058216.3(RAD51C):c.904+6T>C rs1555602163
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.905-3C>T rs2143961087
NM_058216.3(RAD51C):c.905-5C>G rs371968149
NM_058216.3(RAD51C):c.905G>T (p.Gly302Val) rs786203304
NM_058216.3(RAD51C):c.909A>T (p.Glu303Asp) rs2049020875
NM_058216.3(RAD51C):c.910A>G (p.Ser304Gly) rs2143961390
NM_058216.3(RAD51C):c.911G>T (p.Ser304Ile) rs1598510989
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009
NM_058216.3(RAD51C):c.913T>C (p.Trp305Arg)
NM_058216.3(RAD51C):c.916G>A (p.Gly306Arg) rs587782733
NM_058216.3(RAD51C):c.920A>G (p.His307Arg) rs2049021589
NM_058216.3(RAD51C):c.921T>A (p.His307Gln) rs2143961779
NM_058216.3(RAD51C):c.922G>A (p.Ala308Thr)
NM_058216.3(RAD51C):c.926C>T (p.Ala309Val)
NM_058216.3(RAD51C):c.929C>T (p.Thr310Ile) rs2049022193
NM_058216.3(RAD51C):c.92G>C (p.Gly31Ala)
NM_058216.3(RAD51C):c.932T>A (p.Ile311Lys) rs786203766
NM_058216.3(RAD51C):c.932T>C (p.Ile311Thr) rs786203766
NM_058216.3(RAD51C):c.941T>C (p.Ile314Thr) rs2143962436
NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn) rs876659875
NM_058216.3(RAD51C):c.952G>C (p.Asp318His) rs876659875
NM_058216.3(RAD51C):c.955C>A (p.Arg319=) rs587781287
NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly) rs587781287
NM_058216.3(RAD51C):c.958A>G (p.Lys320Glu) rs1567810482
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.962A>G (p.Gln321Arg) rs1555603052
NM_058216.3(RAD51C):c.964A>C (p.Arg322=) rs864622343
NM_058216.3(RAD51C):c.965+21A>G rs752811386
NM_058216.3(RAD51C):c.965+3C>G
NM_058216.3(RAD51C):c.965+867A>G
NM_058216.3(RAD51C):c.965G>A (p.Arg322Lys) rs1555603059
NM_058216.3(RAD51C):c.965G>C (p.Arg322Thr) rs1555603059
NM_058216.3(RAD51C):c.966-1G>A rs876658272
NM_058216.3(RAD51C):c.966-1G>T rs876658272
NM_058216.3(RAD51C):c.966-2A>G rs1436204606
NM_058216.3(RAD51C):c.966-3C>T rs1064796091
NM_058216.3(RAD51C):c.966-6A>G
NM_058216.3(RAD51C):c.966G>A (p.Arg322=) rs1567817289
NM_058216.3(RAD51C):c.966G>T (p.Arg322Ser) rs1567817289
NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp) rs587782045
NM_058216.3(RAD51C):c.96C>G (p.Phe32Leu) rs1228923241
NM_058216.3(RAD51C):c.971C>T (p.Ala324Val) rs2144044470
NM_058216.3(RAD51C):c.973A>G (p.Thr325Ala) rs1555605054
NM_058216.3(RAD51C):c.974C>T (p.Thr325Ile)
NM_058216.3(RAD51C):c.977T>C (p.Leu326Ser) rs749208768
NM_058216.3(RAD51C):c.977T>G (p.Leu326Trp) rs749208768
NM_058216.3(RAD51C):c.977_979del (p.Leu326del) rs2144044664
NM_058216.3(RAD51C):c.978G>C (p.Leu326Phe) rs770652503
NM_058216.3(RAD51C):c.984G>C (p.Lys328Asn)
NM_058216.3(RAD51C):c.986C>T (p.Ser329Leu) rs1567817363
NM_058216.3(RAD51C):c.988C>T (p.Pro330Ser) rs1555605068
NM_058216.3(RAD51C):c.989C>G (p.Pro330Arg) rs1567817392
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu) rs1567817392
NM_058216.3(RAD51C):c.992G>A (p.Ser331Asn) rs786202681
NM_058216.3(RAD51C):c.992G>C (p.Ser331Thr)
NM_058216.3(RAD51C):c.992G>T (p.Ser331Ile) rs786202681
NM_058216.3(RAD51C):c.993C>A (p.Ser331Arg) rs2049471711
NM_058216.3(RAD51C):c.994C>A (p.Gln332Lys) rs1555605074
NM_058216.3(RAD51C):c.999G>T (p.Lys333Asn) rs2049471981
NM_058216.3(RAD51C):c.99G>C (p.Gln33His) rs1598449381
NM_058216.3(RAD51C):c.99G>T (p.Gln33His) rs1598449381
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)
NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)
NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp) rs1638529780
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)
NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)
NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala) rs1249919137
NM_080605.4(B3GALT6):c.149C>G (p.Pro50Arg) rs1156566104
NM_080605.4(B3GALT6):c.150dup (p.Ala51fs) rs1638536337
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly) rs1035452129
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro) rs950488335
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val) rs963500907
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr) rs1638538307
NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) rs2100993440
NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)
NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) rs1553151150
NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs) rs2100993446
NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup) rs1638539426
NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser) rs1436567011
NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met) rs1174370874
NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3]) rs1553151151
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) rs2100993592
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) rs2100993072
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs) rs1468255826
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly) rs558454078
NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)
NM_080605.4(B3GALT6):c.347A>G (p.His116Arg) rs1638548585
NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu) rs767598361
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly) rs1478246707
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val) rs2100993852
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)
NM_080605.4(B3GALT6):c.421del (p.Ala141fs)
NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) rs1638552845
NM_080605.4(B3GALT6):c.448G>C (p.Glu150Gln) rs1557526286
NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) rs1638553187
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) rs2100993929
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs) rs2100993997
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) rs778123798
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly) rs2100994072
NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup) rs1057034356
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg) rs2100994186
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.598G>A (p.Glu200Lys)
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) rs1405919033
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) rs1170976606
NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser) rs1638560291
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser) rs866914942
NM_080605.4(B3GALT6):c.651del (p.Tyr218fs) rs2100994328
NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)
NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)
NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly) rs2100994545
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val) rs2100994545
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)
NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)
NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) rs1553151166
NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)
NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn) rs2100994661
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val) rs2100994726
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu) rs988906237
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs) rs1339079870
NM_080680.3(COL11A2):c.*248C>A rs886061314
NM_080680.3(COL11A2):c.*393A>G rs1768602218
NM_080680.3(COL11A2):c.*485G>C rs1768585045
NM_080680.3(COL11A2):c.*706G>T rs548143581
NM_080680.3(COL11A2):c.*788A>C rs773303307
NM_080680.3(COL11A2):c.*819C>T rs1453667316
NM_080680.3(COL11A2):c.-79T>C rs1773232423
NM_080680.3(COL11A2):c.-92A>G rs886061319
NM_080680.3(COL11A2):c.1129_1130dup (p.Pro378fs)
NM_080680.3(COL11A2):c.1231G>T (p.Gly411Cys) rs1771618390
NM_080680.3(COL11A2):c.1471C>T (p.Pro491Ser)
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1697T>G (p.Leu566Arg) rs1771274896
NM_080680.3(COL11A2):c.1818+15G>A rs549588854
NM_080680.3(COL11A2):c.1869C>G (p.Pro623=) rs1771179784
NM_080680.3(COL11A2):c.2054G>C (p.Gly685Ala) rs757431548
NM_080680.3(COL11A2):c.2220G>A (p.Glu740=) rs202032297
NM_080680.3(COL11A2):c.222G>A (p.Gln74=) rs1772815896
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.2477G>C (p.Gly826Ala) rs767536947
NM_080680.3(COL11A2):c.2482C>T (p.Arg828Trp)
NM_080680.3(COL11A2):c.2666G>A (p.Gly889Glu) rs1770440344
NM_080680.3(COL11A2):c.2682+5G>A rs1175212667
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.3150+7G>T rs1327272043
NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr) rs886061316
NM_080680.3(COL11A2):c.3509C>G (p.Thr1170Arg)
NM_080680.3(COL11A2):c.3778G>C (p.Asp1260His) rs1769705019
NM_080680.3(COL11A2):c.3907-5C>T rs1194309539
NM_080680.3(COL11A2):c.3959G>T (p.Arg1320Leu) rs372143434
NM_080680.3(COL11A2):c.4280A>G (p.Glu1427Gly)
NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser) rs1369015834
NM_080680.3(COL11A2):c.484A>T (p.Thr162Ser)
NM_080680.3(COL11A2):c.4G>A (p.Glu2Lys)
NM_080680.3(COL11A2):c.5102G>A (p.Arg1701Gln)
NM_080680.3(COL11A2):c.830C>A (p.Pro277His) rs886061318
NM_080680.3(COL11A2):c.920T>A (p.Leu307His) rs1772205515
NM_080680.3(COL11A2):c.939G>C (p.Glu313Asp) rs886061317
NM_130837.3(OPA1):c.679-4G>T rs757018661
NM_133368.3(RSPRY1):c.1421G>A (p.Cys474Tyr) rs2075214401
NM_133368.3(RSPRY1):c.1652G>A (p.Cys551Tyr) rs2146410648
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.4(NIPBL):c.*142G>C rs886060562
NM_133433.4(NIPBL):c.*265_*266del rs886060563
NM_133433.4(NIPBL):c.*354T>C rs1755262500
NM_133433.4(NIPBL):c.*460del rs768908921
NM_133433.4(NIPBL):c.*742_*743del rs886060567
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-315del
NM_133433.4(NIPBL):c.-338C>T rs886060556
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-424T>C rs886060552
NM_133433.4(NIPBL):c.-428G>C rs886060551
NM_133433.4(NIPBL):c.-80+11G>C rs1257470313
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile)
NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg) rs1743395526
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys) rs1743404672
NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr)
NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu)
NM_133433.4(NIPBL):c.1202C>T (p.Ser401Leu)
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.1235G>A (p.Arg412His)
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu) rs1554015229
NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val) rs1743429461
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
NM_133433.4(NIPBL):c.1411T>G (p.Leu471Val)
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) rs1017711925
NM_133433.4(NIPBL):c.1469G>A (p.Arg490His)
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
NM_133433.4(NIPBL):c.1626C>T (p.Ser542=)
NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr)
NM_133433.4(NIPBL):c.1643C>G (p.Ala548Gly) rs2149643225
NM_133433.4(NIPBL):c.1669A>G (p.Ile557Val)
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr)
NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg) rs1744567400
NM_133433.4(NIPBL):c.1745A>G (p.Gln582Arg)
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp)
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn)
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly)
NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys) rs1744586399
NM_133433.4(NIPBL):c.1849G>C (p.Glu617Gln) rs1744586399
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile) rs1744597297
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala) rs2149644038
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)
NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg)
NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr) rs762097133
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser)
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser) rs2149599601
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) rs1178033980
NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr)
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
NM_133433.4(NIPBL):c.2332G>C (p.Glu778Gln) rs1744671339
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala)
NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp)
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu) rs376912534
NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro)
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu)
NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg) rs1744681690
NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe)
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) rs80358365
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His) rs775238155
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr) rs1744758389
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) rs1580399961
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser)
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe)
NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly)
NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile) rs2149662601
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly) rs2149668934
NM_133433.4(NIPBL):c.334A>C (p.Met112Leu) rs1242572717
NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys)
NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly) rs2149669051
NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr)
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr)
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del)
NM_133433.4(NIPBL):c.3503-9T>G rs587783924
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile) rs1746709380
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly) rs1275880743
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val) rs892589257
NM_133433.4(NIPBL):c.3574+12_3574+16del
NM_133433.4(NIPBL):c.3575-3_3575-2insG
NM_133433.4(NIPBL):c.358+3G>C rs1580330420
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
NM_133433.4(NIPBL):c.3769C>T (p.Leu1257Phe)
NM_133433.4(NIPBL):c.3775A>C (p.Thr1259Pro)
NM_133433.4(NIPBL):c.3778G>A (p.Asp1260Asn) rs2149673199
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-12A>C rs199847583
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del) rs773996562
NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys) rs1741620942
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu) rs1170839204
NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr) rs2149676816
NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala)
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) rs886042218
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val) rs1747443386
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys) rs1747444771
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn) rs1741623090
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr)
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr) rs2149677952
NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser)
NM_133433.4(NIPBL):c.4181T>C (p.Val1394Ala)
NM_133433.4(NIPBL):c.4183A>G (p.Ser1395Gly)
NM_133433.4(NIPBL):c.4225A>G (p.Thr1409Ala)
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.432A>C (p.Gln144His)
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser) rs80358358
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4455G>A (p.Met1485Ile)
NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg)
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala)
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del)
NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=)
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile) rs1351097452
NM_133433.4(NIPBL):c.4576G>C (p.Val1526Leu)
NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val)
NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln)
NM_133433.4(NIPBL):c.460C>A (p.Arg154=)
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser) rs1447713911
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg)
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp) rs1749083607
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala)
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu) rs772077115
NM_133433.4(NIPBL):c.4920+5T>G
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
NM_133433.4(NIPBL):c.5017C>T (p.Arg1673Cys)
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
NM_133433.4(NIPBL):c.5115T>C (p.His1705=) rs2149696602
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly)
NM_133433.4(NIPBL):c.5226-3C>T
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu)
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) rs483353060
NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=)
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
NM_133433.4(NIPBL):c.5574+5G>T
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val) rs1750049593
NM_133433.4(NIPBL):c.5709+4G>C
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del) rs1750256312
NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr)
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn)
NM_133433.4(NIPBL):c.5808+6_5808+8del
NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg) rs587783989
NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn) rs587783990
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu) rs587783992
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser)
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr) rs2149607994
NM_133433.4(NIPBL):c.611-3C>T
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln) rs587783999
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu) rs587783999
NM_133433.4(NIPBL):c.6222G>A (p.Met2074Ile)
NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del) rs1554031820
NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=) rs1131691272
NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg)
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser)
NM_133433.4(NIPBL):c.6343+4A>T rs1344872907
NM_133433.4(NIPBL):c.6343+5G>A rs80358383
NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His) rs369295272
NM_133433.4(NIPBL):c.64+4del rs1740653321
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe)
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) rs1579561078
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser)
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val) rs1368217611
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)
NM_133433.4(NIPBL):c.6694C>G (p.Gln2232Glu)
NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu)
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del) rs797045778
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.678G>A (p.Pro226=) rs192822119
NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly) rs1401102641
NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly) rs2149737924
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=)
NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile)
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro) rs2149750216
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val)
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu)
NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr)
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys) rs1561224805
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe) rs759115050
NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)
NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln)
NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=) rs1754384795
NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly) rs1754386332
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) rs587784044
NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)
NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly) rs756187678
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
NM_133433.4(NIPBL):c.760C>T (p.Leu254=)
NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His)
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) rs80358351
NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr) rs2149755591
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
NM_133433.4(NIPBL):c.8049+6G>A
NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn)
NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser) rs886060561
NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)
NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile)
NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del)
NM_133433.4(NIPBL):c.8299A>G (p.Lys2767Glu) rs2149761150
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met) rs587784057
NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu)
NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)
NM_133433.4(NIPBL):c.8370del (p.Thr2791fs) rs1755229121
NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)
NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
NM_133433.4(NIPBL):c.868+4C>G
NM_133433.4(NIPBL):c.868+4C>T
NM_133433.4(NIPBL):c.873A>C (p.Ser291=) rs1743370604
NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064
NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly)
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)
NM_144643.4(SCLT1):c.1294-1_1294dup rs1560875393
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn) rs888701582
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp) rs1329925495
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser) rs775815805
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln) rs1560177469
NM_147127.5(EVC2):c.1886+3A>G rs2108846962
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe) rs2108843340
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly) rs1722347761
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr) rs1381479998
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn) rs371896802
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn) rs1715808033
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg) rs976833828
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser) rs1454769055
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser) rs1272970867
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala) rs931667385
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile) rs2108833529
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
NM_147127.5(EVC2):c.2707-9C>A rs772234395
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu) rs536732931
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp) rs60809236
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3360+16C>G
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) rs144511301
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr) rs752599166
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
NM_147127.5(EVC2):c.3659+3A>C
NM_147127.5(EVC2):c.3659+3A>G
NM_147127.5(EVC2):c.3659+5T>C rs1722200321
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val) rs894829697
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile) rs2151733915
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
NM_147127.5(EVC2):c.555A>G (p.Ile185Met) rs2151731889
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg) rs1342830628
NM_147127.5(EVC2):c.55C>A (p.Leu19Met) rs1722364834
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser) rs567458437
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile) rs2151731712
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu) rs1720935592
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
NM_147127.5(EVC2):c.706+6A>G
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu) rs1720636458
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys) rs144730069
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
NM_152281.2(GORAB):c.3G>A (p.Met1Ile) rs769937320
NM_152281.3(GORAB):c.*1305T>C rs1330502353
NM_152281.3(GORAB):c.*349G>A rs886045554
NM_152281.3(GORAB):c.*404A>G rs1308965013
NM_152281.3(GORAB):c.*612A>G rs1650226571
NM_152281.3(GORAB):c.*771A>T rs886045557
NM_152281.3(GORAB):c.-24T>C
NM_152281.3(GORAB):c.1003del (p.Ser335fs)
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) rs369967804
NM_152281.3(GORAB):c.236C>G (p.Pro79Arg)
NM_152281.3(GORAB):c.282C>G (p.Pro94=) rs767686838
NM_152281.3(GORAB):c.340A>T (p.Asn114Tyr)
NM_152281.3(GORAB):c.408G>C (p.Lys136Asn) rs964155812
NM_152281.3(GORAB):c.560G>A (p.Arg187Gln) rs190557815
NM_152281.3(GORAB):c.596T>G (p.Val199Gly) rs764819857
NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr) rs1648727549
NM_152281.3(GORAB):c.668G>C (p.Arg223Pro) rs564838793
NM_152281.3(GORAB):c.859G>T (p.Val287Leu)
NM_152633.4(FANCB):c.-70-3463_951dup
NM_152730.6(TBC1D32):c.769+5G>A
NM_152739.4(HOXA9):c.304G>C (p.Ala102Pro)
NM_153365.3(TAPT1):c.323T>G (p.Leu108Trp)
NM_153376.3(CCDC96):c.114_120dup (p.Gly41fs) rs1723504197
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile) rs1729670311
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1]) rs1164121689
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro) rs535632933
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro) rs372089496
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
NM_153717.3(EVC):c.2449+5G>A
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser) rs1446692986
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2783-3C>A
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
NM_153717.3(EVC):c.2842del (p.Val948fs)
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala) rs2152394644
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.300+3A>G
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.698A>C (p.His233Pro)
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.700A>G (p.Met234Val)
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.734T>A (p.Leu245His)
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu) rs1558129629
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_181486.4(TBX5):c.*1196T>C rs886048984
NM_181486.4(TBX5):c.*1548C>T rs1868723623
NM_181486.4(TBX5):c.*439T>A rs1868799935
NM_181486.4(TBX5):c.*545C>G rs886048994
NM_181486.4(TBX5):c.*717C>T rs148346089
NM_181486.4(TBX5):c.*755_*759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG rs886048992
NM_181486.4(TBX5):c.*806C>G rs886048990
NM_181486.4(TBX5):c.*852C>T rs886048989
NM_181486.4(TBX5):c.*856T>A rs886048988
NM_181486.4(TBX5):c.*926T>C rs886048986
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile) rs971831243
NM_181486.4(TBX5):c.13G>A (p.Asp5Asn) rs886048999
NM_181486.4(TBX5):c.174C>T (p.Leu58=) rs886048998
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.242G>T (p.Arg81Met)
NM_181486.4(TBX5):c.254C>T (p.Pro85Leu) rs1565941576
NM_181486.4(TBX5):c.372G>C (p.Thr124=) rs778117002
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.454C>G (p.Leu152Val) rs2136416738
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.520A>G (p.Asn174Asp) rs1565939347
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.585C>T (p.Gly195=) rs753457483
NM_181486.4(TBX5):c.634A>G (p.Ile212Val)
NM_181486.4(TBX5):c.663+4A>T
NM_181486.4(TBX5):c.664-11C>T rs771400478
NM_181486.4(TBX5):c.694T>G (p.Phe232Val) rs1565935405
NM_181486.4(TBX5):c.846C>T (p.Ser282=) rs886048997
NM_182943.3(PLOD2):c.*1034A>C rs1936052669
NM_182943.3(PLOD2):c.*1169T>C rs1576566139
NM_182943.3(PLOD2):c.*148T>C rs886058064
NM_182943.3(PLOD2):c.*292C>T rs886058063
NM_182943.3(PLOD2):c.*418A>T rs1936077742
NM_182943.3(PLOD2):c.*673A>T rs1413215458
NM_182943.3(PLOD2):c.*930A>C rs757669792
NM_182943.3(PLOD2):c.103C>T (p.Pro35Ser) rs1401879984
NM_182943.3(PLOD2):c.121G>A (p.Val41Ile) rs2030399859
NM_182943.3(PLOD2):c.153A>G (p.Gly51=) rs1397987910
NM_182943.3(PLOD2):c.1565G>C (p.Gly522Ala) rs775017069
NM_182943.3(PLOD2):c.1626C>T (p.Tyr542=) rs1936359379
NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)
NM_182943.3(PLOD2):c.1995G>A (p.Lys665=) rs1936119443
NM_182943.3(PLOD2):c.2104G>T (p.Val702Leu) rs780062874
NM_182943.3(PLOD2):c.2143A>G (p.Arg715Gly)
NM_182943.3(PLOD2):c.2270A>T (p.Asp757Val) rs1936095846
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu) rs764056697
NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys) rs771710305
NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr) rs1936980905
NM_183065.4(TMEM107):c.179C>T (p.Thr60Ile)
NM_198239.2(CCN6):c.183C>T (p.Cys61=) rs886060987
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) rs1562595388
NM_198239.2(CCN6):c.29T>C (p.Leu10Pro) rs1776282450
NM_198239.2(CCN6):c.346+5G>A
NM_198239.2(CCN6):c.535T>G (p.Cys179Gly) rs782783177
NM_198239.2(CCN6):c.648G>T (p.Trp216Cys) rs781860587
NM_198525.3(KIF7):c.1706G>A (p.Gly569Glu) rs1964023213
NM_198525.3(KIF7):c.1894C>T (p.Pro632Ser) rs1254624184
NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly) rs137905815
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp) rs141867330
NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly) rs202229910
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu) rs756521084
NM_198525.3(KIF7):c.848G>A (p.Gly283Asp) rs1964076095
NM_203486.3(DLL3):c.-12dup rs747003629
NM_203486.3(DLL3):c.1123C>G (p.Leu375Val) rs777253263
NM_203486.3(DLL3):c.1140C>G (p.Arg380=) rs934368057
NM_203486.3(DLL3):c.1362T>C (p.Ala454=) rs768998068
NM_203486.3(DLL3):c.1378A>G (p.Met460Val) rs766274162
NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu) rs777442783
NM_203486.3(DLL3):c.1674-9C>T rs2079653502
NM_203486.3(DLL3):c.1759-97G>T rs569619393
NM_203486.3(DLL3):c.221A>C (p.Glu74Ala) rs1600751637
NM_203486.3(DLL3):c.343G>A (p.Ala115Thr) rs71647811
NM_203486.3(DLL3):c.367A>G (p.Ile123Val) rs1568448479
NM_203486.3(DLL3):c.583A>G (p.Ser195Gly) rs2079619248
NM_203486.3(DLL3):c.615C>T (p.Arg205=) rs780088167
NM_203486.3(DLL3):c.654G>A (p.Leu218=) rs140489087
NM_203486.3(DLL3):c.870+3C>T rs377288340
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254
NM_207037.2(TCF12):c.*646T>G rs1204777319
NM_207037.2(TCF12):c.1035+4660C>T rs2151950851
NM_207037.2(TCF12):c.1991del (p.Asn664fs)
NM_207037.2(TCF12):c.2068C>T (p.Pro690Ser) rs2061739586
NM_207037.2(TCF12):c.801C>T (p.Gly267=) rs2059176608
NM_212472.2(PRKAR1A):c.-200T>A rs534001445
NM_213599.3(ANO5):c.1013G>A (p.Ser338Asn)
NM_213599.3(ANO5):c.1014-3C>T
NM_213599.3(ANO5):c.1014-6T>A rs760705359
NM_213599.3(ANO5):c.1016C>T (p.Thr339Ile)
NM_213599.3(ANO5):c.1022T>C (p.Ile341Thr)
NM_213599.3(ANO5):c.1036A>G (p.Ile346Val) rs146233625
NM_213599.3(ANO5):c.103A>G (p.Arg35Gly) rs1852267355
NM_213599.3(ANO5):c.1042G>T (p.Gly348Cys) rs139344099
NM_213599.3(ANO5):c.1050G>C (p.Met350Ile)
NM_213599.3(ANO5):c.1050G>T (p.Met350Ile)
NM_213599.3(ANO5):c.1052T>C (p.Ile351Thr)
NM_213599.3(ANO5):c.1055T>C (p.Met352Thr) rs991625488
NM_213599.3(ANO5):c.1056G>A (p.Met352Ile)
NM_213599.3(ANO5):c.1061C>T (p.Pro354Leu)
NM_213599.3(ANO5):c.1063C>T (p.Leu355Phe) rs886042583
NM_213599.3(ANO5):c.1075G>T (p.Val359Leu)
NM_213599.3(ANO5):c.108G>C (p.Glu36Asp) rs1417289245
NM_213599.3(ANO5):c.108G>T (p.Glu36Asp) rs1417289245
NM_213599.3(ANO5):c.1103C>G (p.Thr368Arg)
NM_213599.3(ANO5):c.1105T>G (p.Cys369Gly)
NM_213599.3(ANO5):c.1106G>A (p.Cys369Tyr) rs886044154
NM_213599.3(ANO5):c.1117A>C (p.Lys373Gln) rs2133704406
NM_213599.3(ANO5):c.1120-9T>G rs1334854466
NM_213599.3(ANO5):c.1120T>C (p.Phe374Leu)
NM_213599.3(ANO5):c.113G>A (p.Ser38Asn) rs2133551587
NM_213599.3(ANO5):c.1168A>T (p.Met390Leu) rs1853797522
NM_213599.3(ANO5):c.1180+3G>A
NM_213599.3(ANO5):c.1180+3G>T rs2133705171
NM_213599.3(ANO5):c.1180G>A (p.Val394Ile)
NM_213599.3(ANO5):c.11C>A (p.Pro4Gln) rs376116831
NM_213599.3(ANO5):c.11C>T (p.Pro4Leu)
NM_213599.3(ANO5):c.123C>G (p.Ile41Met)
NM_213599.3(ANO5):c.1243G>A (p.Val415Met) rs886042432
NM_213599.3(ANO5):c.1256A>C (p.Glu419Ala) rs1853970837
NM_213599.3(ANO5):c.1265A>C (p.Gln422Pro) rs1554930319
NM_213599.3(ANO5):c.1311G>C (p.Arg437Ser)
NM_213599.3(ANO5):c.1332G>A (p.Lys444=) rs550454492
NM_213599.3(ANO5):c.1333-5T>A
NM_213599.3(ANO5):c.1348A>G (p.Met450Val) rs1362712764
NM_213599.3(ANO5):c.1363C>T (p.Arg455Cys) rs200633920
NM_213599.3(ANO5):c.1369C>G (p.Pro457Ala)
NM_213599.3(ANO5):c.1372T>C (p.Trp458Arg)
NM_213599.3(ANO5):c.1376A>G (p.Tyr459Cys)
NM_213599.3(ANO5):c.137T>A (p.Met46Lys)
NM_213599.3(ANO5):c.137T>C (p.Met46Thr)
NM_213599.3(ANO5):c.1388G>A (p.Gly463Glu) rs1854050845
NM_213599.3(ANO5):c.139C>T (p.Pro47Ser) rs147323556
NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)
NM_213599.3(ANO5):c.1405T>C (p.Trp469Arg)
NM_213599.3(ANO5):c.1409T>A (p.Met470Lys) rs1403946332
NM_213599.3(ANO5):c.140C>T (p.Pro47Leu)
NM_213599.3(ANO5):c.1410G>A (p.Met470Ile) rs2133737951
NM_213599.3(ANO5):c.1417G>C (p.Val473Leu)
NM_213599.3(ANO5):c.1438_1439insGTG (p.Ala479_Val480insGly) rs886042702
NM_213599.3(ANO5):c.1444G>A (p.Val482Met)
NM_213599.3(ANO5):c.1463T>C (p.Phe488Ser) rs1590300142
NM_213599.3(ANO5):c.1468A>G (p.Thr490Ala) rs375611559
NM_213599.3(ANO5):c.1468A>T (p.Thr490Ser) rs375611559
NM_213599.3(ANO5):c.146A>G (p.Lys49Arg) rs2133578091
NM_213599.3(ANO5):c.1486G>A (p.Glu496Lys) rs1854122899
NM_213599.3(ANO5):c.1489A>G (p.Ser497Gly)
NM_213599.3(ANO5):c.1528C>G (p.Pro510Ala)
NM_213599.3(ANO5):c.1534A>G (p.Ile512Val) rs1354557357
NM_213599.3(ANO5):c.1567T>G (p.Phe523Val) rs1854128264
NM_213599.3(ANO5):c.1576A>C (p.Ile526Leu)
NM_213599.3(ANO5):c.1595T>C (p.Phe532Ser)
NM_213599.3(ANO5):c.1606A>C (p.Ile536Leu)
NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)
NM_213599.3(ANO5):c.1612_1613delinsTT (p.Ala538Phe)
NM_213599.3(ANO5):c.1628T>A (p.Met543Lys) rs2133739053
NM_213599.3(ANO5):c.1629G>T (p.Met543Ile) rs1854131377
NM_213599.3(ANO5):c.1636C>A (p.Pro546Thr) rs2133747368
NM_213599.3(ANO5):c.1648C>A (p.Gln550Lys) rs1854208561
NM_213599.3(ANO5):c.1649A>G (p.Gln550Arg)
NM_213599.3(ANO5):c.1657G>A (p.Glu553Lys)
NM_213599.3(ANO5):c.1665T>A (p.Ser555Arg) rs1554931739
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213599.3(ANO5):c.169C>G (p.Arg57Gly) rs1323349209
NM_213599.3(ANO5):c.16C>T (p.Leu6Phe)
NM_213599.3(ANO5):c.1711T>C (p.Ser571Pro)
NM_213599.3(ANO5):c.1712C>T (p.Ser571Phe)
NM_213599.3(ANO5):c.1718T>C (p.Phe573Ser) rs2133747819
NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys) rs2133747827
NM_213599.3(ANO5):c.1726G>A (p.Ala576Thr)
NM_213599.3(ANO5):c.1734T>C (p.Phe578=)
NM_213599.3(ANO5):c.1736A>T (p.Lys579Ile) rs1554931810
NM_213599.3(ANO5):c.173G>T (p.Arg58Leu) rs749698519
NM_213599.3(ANO5):c.1754A>G (p.Tyr585Cys) rs2133748070
NM_213599.3(ANO5):c.1790G>A (p.Arg597Lys) rs1854215396
NM_213599.3(ANO5):c.1793G>T (p.Ser598Ile)
NM_213599.3(ANO5):c.180+6A>G
NM_213599.3(ANO5):c.181-3C>T rs1413673264
NM_213599.3(ANO5):c.1817G>A (p.Cys606Tyr) rs2133750545
NM_213599.3(ANO5):c.1835C>T (p.Thr612Ile)
NM_213599.3(ANO5):c.1837C>A (p.Gln613Lys) rs1854241987
NM_213599.3(ANO5):c.1854G>A (p.Met618Ile)
NM_213599.3(ANO5):c.1856C>A (p.Thr619Asn) rs1554931947
NM_213599.3(ANO5):c.1889C>G (p.Ala630Gly)
NM_213599.3(ANO5):c.1899-4A>G
NM_213599.3(ANO5):c.1908G>C (p.Leu636Phe)
NM_213599.3(ANO5):c.1912TGG[1] (p.Trp639del) rs886043515
NM_213599.3(ANO5):c.1919G>C (p.Arg640Thr)
NM_213599.3(ANO5):c.1920A>T (p.Arg640Ser) rs2133778259
NM_213599.3(ANO5):c.1930G>C (p.Ala644Pro) rs1302354806
NM_213599.3(ANO5):c.1930G>T (p.Ala644Ser) rs1302354806
NM_213599.3(ANO5):c.1936A>G (p.Thr646Ala) rs1398971952
NM_213599.3(ANO5):c.1952T>C (p.Leu651Pro)
NM_213599.3(ANO5):c.1959T>G (p.Ser653Arg)
NM_213599.3(ANO5):c.1961G>A (p.Arg654Gln)
NM_213599.3(ANO5):c.1970A>T (p.Gln657Leu) rs1854564032
NM_213599.3(ANO5):c.1972G>A (p.Asp658Asn) rs1243399386
NM_213599.3(ANO5):c.1975C>G (p.His659Asp) rs1177606947
NM_213599.3(ANO5):c.197A>G (p.Gln66Arg) rs1852632637
NM_213599.3(ANO5):c.1985A>G (p.Glu662Gly) rs2133778741
NM_213599.3(ANO5):c.1992T>G (p.Phe664Leu)
NM_213599.3(ANO5):c.2024_2029del (p.Glu675_Thr676del) rs2133778948
NM_213599.3(ANO5):c.2039T>A (p.Phe680Tyr) rs777640863
NM_213599.3(ANO5):c.2051C>T (p.Thr684Ile) rs1554934236
NM_213599.3(ANO5):c.2056T>G (p.Phe686Val) rs1554934237
NM_213599.3(ANO5):c.2062G>A (p.Ala688Thr) rs1411918733
NM_213599.3(ANO5):c.2063C>T (p.Ala688Val)
NM_213599.3(ANO5):c.2075T>C (p.Leu692Ser)
NM_213599.3(ANO5):c.2080C>T (p.Pro694Ser) rs886042582
NM_213599.3(ANO5):c.211A>G (p.Ile71Val)
NM_213599.3(ANO5):c.2138C>T (p.Thr713Ile)
NM_213599.3(ANO5):c.2144A>G (p.Gln715Arg) rs886043450
NM_213599.3(ANO5):c.2156C>G (p.Thr719Ser)
NM_213599.3(ANO5):c.2170G>C (p.Ala724Pro)
NM_213599.3(ANO5):c.2173C>A (p.His725Asn)
NM_213599.3(ANO5):c.2179A>G (p.Ile727Val) rs1053189991
NM_213599.3(ANO5):c.2181A>G (p.Ile727Met)
NM_213599.3(ANO5):c.2193A>C (p.Gln731His) rs745356431
NM_213599.3(ANO5):c.2201T>C (p.Leu734Pro) rs2133788943
NM_213599.3(ANO5):c.2203T>G (p.Tyr735Asp) rs1564951438
NM_213599.3(ANO5):c.2207G>A (p.Gly736Glu)
NM_213599.3(ANO5):c.2209A>T (p.Met737Leu) rs1854679617
NM_213599.3(ANO5):c.2216T>G (p.Val739Gly) rs2133789005
NM_213599.3(ANO5):c.2218C>G (p.Leu740Val) rs2133789024
NM_213599.3(ANO5):c.2222C>A (p.Ser741Tyr)
NM_213599.3(ANO5):c.2222C>T (p.Ser741Phe)
NM_213599.3(ANO5):c.2231C>G (p.Thr744Ser)
NM_213599.3(ANO5):c.2235+6T>C rs1246421086
NM_213599.3(ANO5):c.2236-8T>G
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.3(ANO5):c.2237C>G (p.Ala746Gly)
NM_213599.3(ANO5):c.223G>C (p.Asp75His) rs886044184
NM_213599.3(ANO5):c.2243T>G (p.Ile748Ser)
NM_213599.3(ANO5):c.2255C>T (p.Thr752Met)
NM_213599.3(ANO5):c.2263A>G (p.Ile755Val)
NM_213599.3(ANO5):c.226G>A (p.Gly76Arg)
NM_213599.3(ANO5):c.2279T>A (p.Val760Asp)
NM_213599.3(ANO5):c.2285A>G (p.Tyr762Cys)
NM_213599.3(ANO5):c.2294A>C (p.Tyr765Ser)
NM_213599.3(ANO5):c.2296T>A (p.Ser766Thr) rs1854763150
NM_213599.3(ANO5):c.22G>A (p.Glu8Lys)
NM_213599.3(ANO5):c.22G>C (p.Glu8Gln) rs1191668273
NM_213599.3(ANO5):c.2309C>T (p.Thr770Ile)
NM_213599.3(ANO5):c.230T>G (p.Ile77Ser)
NM_213599.3(ANO5):c.2347G>C (p.Val783Leu)
NM_213599.3(ANO5):c.2357T>A (p.Ile786Lys)
NM_213599.3(ANO5):c.2362G>A (p.Asp788Asn)
NM_213599.3(ANO5):c.2362G>C (p.Asp788His)
NM_213599.3(ANO5):c.2369C>T (p.Pro790Leu)
NM_213599.3(ANO5):c.2374C>T (p.His792Tyr) rs1854766846
NM_213599.3(ANO5):c.2377A>G (p.Thr793Ala)
NM_213599.3(ANO5):c.2377A>T (p.Thr793Ser) rs1854767183
NM_213599.3(ANO5):c.2389G>A (p.Glu797Lys)
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser) rs1233836740
NM_213599.3(ANO5):c.2416T>G (p.Tyr806Asp)
NM_213599.3(ANO5):c.2435C>T (p.Pro812Leu) rs1854836805
NM_213599.3(ANO5):c.2445C>G (p.Asp815Glu)
NM_213599.3(ANO5):c.2455T>C (p.Tyr819His) rs1854838230
NM_213599.3(ANO5):c.2456A>G (p.Tyr819Cys) rs1554935116
NM_213599.3(ANO5):c.2461C>T (p.His821Tyr)
NM_213599.3(ANO5):c.2482G>T (p.Val828Phe) rs796172838
NM_213599.3(ANO5):c.2488G>A (p.Ala830Thr)
NM_213599.3(ANO5):c.2501_2502delinsTG (p.Thr834Met) rs1854840862
NM_213599.3(ANO5):c.2503T>A (p.Phe835Ile) rs374725506
NM_213599.3(ANO5):c.2509A>G (p.Ile837Val)
NM_213599.3(ANO5):c.2520+5G>A rs1564954182
NM_213599.3(ANO5):c.2524G>A (p.Val842Ile)
NM_213599.3(ANO5):c.2540A>T (p.Lys847Ile) rs375940033
NM_213599.3(ANO5):c.2542T>C (p.Phe848Leu)
NM_213599.3(ANO5):c.2554T>C (p.Trp852Arg) rs1405710743
NM_213599.3(ANO5):c.2561T>A (p.Ile854Lys) rs1311724644
NM_213599.3(ANO5):c.2563C>T (p.Pro855Ser)
NM_213599.3(ANO5):c.2579A>G (p.Asp860Gly)
NM_213599.3(ANO5):c.2581G>A (p.Val861Ile)
NM_213599.3(ANO5):c.2587G>A (p.Glu863Lys)
NM_213599.3(ANO5):c.2587G>C (p.Glu863Gln) rs1442498026
NM_213599.3(ANO5):c.2591G>T (p.Arg864Ile) rs1854998392
NM_213599.3(ANO5):c.2593A>C (p.Ile865Leu) rs772869621
NM_213599.3(ANO5):c.2594_2604del (p.Ile865fs) rs1371210536
NM_213599.3(ANO5):c.259G>C (p.Val87Leu) rs34994927
NM_213599.3(ANO5):c.259G>T (p.Val87Phe)
NM_213599.3(ANO5):c.2600G>T (p.Arg867Ile) rs1223713660
NM_213599.3(ANO5):c.2602_2603del (p.Glu868fs) rs1554935928
NM_213599.3(ANO5):c.2603A>G (p.Glu868Gly) rs2133810964
NM_213599.3(ANO5):c.2609T>G (p.Leu870Ter) rs1855000095
NM_213599.3(ANO5):c.2613G>A (p.Met871Ile)
NM_213599.3(ANO5):c.2624T>C (p.Ile875Thr) rs2133811100
NM_213599.3(ANO5):c.2639A>G (p.Glu880Gly) rs1554935957
NM_213599.3(ANO5):c.2642T>C (p.Leu881Pro) rs1394763627
NM_213599.3(ANO5):c.2642T>G (p.Leu881Arg) rs1394763627
NM_213599.3(ANO5):c.2646C>A (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.2672dup (p.Asn891fs) rs2133811319
NM_213599.3(ANO5):c.2677A>G (p.Asn893Asp)
NM_213599.3(ANO5):c.2679T>A (p.Asn893Lys) rs2133811375
NM_213599.3(ANO5):c.267_268inv (p.Val90Ile)
NM_213599.3(ANO5):c.2698A>G (p.Met900Val) rs148293985
NM_213599.3(ANO5):c.2703T>G (p.Ile901Met)
NM_213599.3(ANO5):c.2704G>A (p.Glu902Lys)
NM_213599.3(ANO5):c.2715A>C (p.Lys905Asn)
NM_213599.3(ANO5):c.2716G>C (p.Ala906Pro) rs2133811614
NM_213599.3(ANO5):c.2719C>G (p.Gln907Glu) rs765305152
NM_213599.3(ANO5):c.2735C>T (p.Thr912Ile)
NM_213599.3(ANO5):c.2737C>T (p.Leu913Phe)
NM_213599.3(ANO5):c.2740T>C (p.Ter914Gln)
NM_213599.3(ANO5):c.2741A>C (p.Ter914Ser)
NM_213599.3(ANO5):c.2742A>T (p.Ter914Tyr)
NM_213599.3(ANO5):c.2742_*3dup (p.Ter914_Ter(914_?)(?))
NM_213599.3(ANO5):c.274A>G (p.Lys92Glu)
NM_213599.3(ANO5):c.277G>A (p.Asp93Asn) rs2133588922
NM_213599.3(ANO5):c.278A>G (p.Asp93Gly)
NM_213599.3(ANO5):c.285G>C (p.Glu95Asp)
NM_213599.3(ANO5):c.296A>G (p.Glu99Gly) rs571318959
NM_213599.3(ANO5):c.298A>G (p.Arg100Gly) rs1554924008
NM_213599.3(ANO5):c.312T>G (p.Phe104Leu)
NM_213599.3(ANO5):c.322C>T (p.Leu108Phe)
NM_213599.3(ANO5):c.337C>T (p.Leu113Phe)
NM_213599.3(ANO5):c.345G>A (p.Leu115=) rs975757101
NM_213599.3(ANO5):c.346_347delinsTT (p.Glu116Leu)
NM_213599.3(ANO5):c.358A>C (p.Lys120Gln)
NM_213599.3(ANO5):c.363G>A (p.Arg121=)
NM_213599.3(ANO5):c.364-3C>A
NM_213599.3(ANO5):c.365A>G (p.Asp122Gly)
NM_213599.3(ANO5):c.366C>A (p.Asp122Glu)
NM_213599.3(ANO5):c.385T>C (p.Tyr129His) rs370952911
NM_213599.3(ANO5):c.392T>G (p.Val131Gly)
NM_213599.3(ANO5):c.39A>G (p.Glu13=) rs774709754
NM_213599.3(ANO5):c.40+18_40+19delinsTC
NM_213599.3(ANO5):c.407C>T (p.Pro136Leu)
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
NM_213599.3(ANO5):c.414G>T (p.Glu138Asp) rs1421178168
NM_213599.3(ANO5):c.421G>C (p.Val141Leu) rs2133611690
NM_213599.3(ANO5):c.43G>C (p.Glu15Gln) rs2133520474
NM_213599.3(ANO5):c.458T>C (p.Ile153Thr)
NM_213599.3(ANO5):c.474T>G (p.Ile158Met)
NM_213599.3(ANO5):c.512G>T (p.Gly171Val) rs977056246
NM_213599.3(ANO5):c.526C>T (p.Pro176Ser)
NM_213599.3(ANO5):c.534T>G (p.Ser178Arg) rs1852879821
NM_213599.3(ANO5):c.535G>A (p.Val179Met) rs1852879938
NM_213599.3(ANO5):c.544C>G (p.Pro182Ala)
NM_213599.3(ANO5):c.544_558del (p.Pro182_Tyr186del)
NM_213599.3(ANO5):c.589G>A (p.Glu197Lys) rs770413331
NM_213599.3(ANO5):c.598C>G (p.Leu200Val) rs1323200040
NM_213599.3(ANO5):c.603C>A (p.Ile201=) rs182532539
NM_213599.3(ANO5):c.607G>C (p.Asp203His) rs750779803
NM_213599.3(ANO5):c.617C>G (p.Thr206Ser) rs1852885137
NM_213599.3(ANO5):c.618CTT[1] (p.Phe208del) rs774304728
NM_213599.3(ANO5):c.625C>G (p.Pro209Ala) rs2133612986
NM_213599.3(ANO5):c.648+4G>A
NM_213599.3(ANO5):c.648+4G>C
NM_213599.3(ANO5):c.648+5G>C rs752512585
NM_213599.3(ANO5):c.649-11T>G rs2133647759
NM_213599.3(ANO5):c.655T>C (p.Tyr219His)
NM_213599.3(ANO5):c.681C>T (p.Gly227=)
NM_213599.3(ANO5):c.686A>G (p.Glu229Gly)
NM_213599.3(ANO5):c.728C>A (p.Ser243Tyr) rs1853214556
NM_213599.3(ANO5):c.742T>C (p.Ser248Pro)
NM_213599.3(ANO5):c.742T>G (p.Ser248Ala) rs751085690
NM_213599.3(ANO5):c.751C>A (p.Pro251Thr)
NM_213599.3(ANO5):c.751C>T (p.Pro251Ser) rs2133648746
NM_213599.3(ANO5):c.754C>G (p.Leu252Val)
NM_213599.3(ANO5):c.762+3_762+4del
NM_213599.3(ANO5):c.762+4T>C
NM_213599.3(ANO5):c.762+6T>G
NM_213599.3(ANO5):c.763-7T>G
NM_213599.3(ANO5):c.772T>C (p.Trp258Arg) rs747860868
NM_213599.3(ANO5):c.791C>G (p.Pro264Arg)
NM_213599.3(ANO5):c.794A>T (p.Asn265Ile) rs377553546
NM_213599.3(ANO5):c.811T>G (p.Tyr271Asp)
NM_213599.3(ANO5):c.823C>G (p.Gln275Glu)
NM_213599.3(ANO5):c.830G>T (p.Trp277Leu)
NM_213599.3(ANO5):c.832G>C (p.Ala278Pro)
NM_213599.3(ANO5):c.833C>T (p.Ala278Val) rs1853359096
NM_213599.3(ANO5):c.841T>C (p.Ser281Pro)
NM_213599.3(ANO5):c.842C>A (p.Ser281Tyr) rs1590266478
NM_213599.3(ANO5):c.851A>T (p.Tyr284Phe)
NM_213599.3(ANO5):c.863C>T (p.Pro288Leu)
NM_213599.3(ANO5):c.877A>C (p.Lys293Gln) rs1853361556
NM_213599.3(ANO5):c.88-8A>T
NM_213599.3(ANO5):c.899T>A (p.Ile300Asn) rs886044659
NM_213599.3(ANO5):c.932C>A (p.Thr311Lys) rs1564935740
NM_213599.3(ANO5):c.932C>T (p.Thr311Ile)
NM_213599.3(ANO5):c.934G>A (p.Glu312Lys) rs1853761986
NM_213599.3(ANO5):c.950C>A (p.Ala317Glu)
NM_213599.3(ANO5):c.991T>A (p.Ser331Thr)
NR_003051.3(RMRP):n.-10C>A rs572830134
NR_003051.3(RMRP):n.-10C>G rs572830134
NR_003051.3(RMRP):n.-11G>A rs545020206
NR_003051.3(RMRP):n.-12A>G rs372044910
NR_003051.3(RMRP):n.-12dup rs1554651504
NR_003051.3(RMRP):n.-15T>C rs765292137
NR_003051.3(RMRP):n.-18C>T rs775303012
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-20C>T rs183974004
NR_003051.3(RMRP):n.-21_-17dup5 rs1472119885
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-23C>A rs188660894
NR_003051.3(RMRP):n.-24A>C rs529852688
NR_003051.3(RMRP):n.-24A>T rs529852688
NR_003051.3(RMRP):n.-25_-21dup rs1563908297
NR_003051.3(RMRP):n.-2G>A rs958637129
NR_003051.3(RMRP):n.-2G>T rs958637129
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-31A>G rs145463993
NR_003051.3(RMRP):n.-35_-8dup rs1823641404
NR_003051.3(RMRP):n.-44_-4dup rs1823636607
NR_003051.3(RMRP):n.-4A>G rs555890962
NR_003051.3(RMRP):n.-4A>T rs555890962
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-53A>G rs551474332
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-55delA rs1554651600
NR_003051.3(RMRP):n.-56C>G rs531089786
NR_003051.3(RMRP):n.-56_-14dup rs1823645721
NR_003051.3(RMRP):n.-57T>A rs3829077
NR_003051.3(RMRP):n.-58_-57delinsCC rs1587919975
NR_003051.3(RMRP):n.-58_-57delinsGC rs1587919975
NR_003051.3(RMRP):n.-5G>C rs7024732
NR_003051.3(RMRP):n.-5G>T rs7024732
NR_003051.3(RMRP):n.-6G>C rs191438045
NR_003051.3(RMRP):n.-6G>T rs191438045
NR_003051.3(RMRP):n.-77C>T rs553651882
NR_003051.3(RMRP):n.-7A>T rs111909453
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.-8G>A rs898955976
NR_003051.3(RMRP):n.-9T>C rs12552387
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.3(RMRP):n.168A>C
NR_003051.3(RMRP):n.177G>A
NR_003051.3(RMRP):n.198_202dup
NR_003051.3(RMRP):n.200T>C
NR_003051.3(RMRP):n.201dup
NR_003051.3(RMRP):n.211dup
NR_003051.3(RMRP):n.232G>T
NR_003051.3(RMRP):n.253_265delTTCTCAGCGCGGC
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.32dup
NR_003051.3(RMRP):n.98dup
NR_003051.4(RMRP):n.101C>G rs536333075
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.102A>C
NR_003051.4(RMRP):n.102_105delACGT rs1823618701
NR_003051.4(RMRP):n.107C>G
NR_003051.4(RMRP):n.108A>G
NR_003051.4(RMRP):n.10C>G rs893651141
NR_003051.4(RMRP):n.111C>G
NR_003051.4(RMRP):n.111_112insT
NR_003051.4(RMRP):n.113C>T rs1479610947
NR_003051.4(RMRP):n.114A>G
NR_003051.4(RMRP):n.114_115insCC rs1823617443
NR_003051.4(RMRP):n.115C>G rs769331218
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.117T>C
NR_003051.4(RMRP):n.118A>G
NR_003051.4(RMRP):n.118_119delAG rs1380611840
NR_003051.4(RMRP):n.120A>G
NR_003051.4(RMRP):n.120_121insT rs2131808600
NR_003051.4(RMRP):n.121_122insT
NR_003051.4(RMRP):n.121_124delCATT rs1191061440
NR_003051.4(RMRP):n.122A>T
NR_003051.4(RMRP):n.123T>C
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.126C>A
NR_003051.4(RMRP):n.126C>G rs938089991
NR_003051.4(RMRP):n.128C>T
NR_003051.4(RMRP):n.12G>A
NR_003051.4(RMRP):n.134C>T rs1587918293
NR_003051.4(RMRP):n.134_135insT rs1823614344
NR_003051.4(RMRP):n.136A>C rs765138079
NR_003051.4(RMRP):n.139dup rs1823613724
NR_003051.4(RMRP):n.140C>G
NR_003051.4(RMRP):n.142A>T
NR_003051.4(RMRP):n.144G>A rs113967059
NR_003051.4(RMRP):n.144G>C rs113967059
NR_003051.4(RMRP):n.144_145insTCCGTCT
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.147C>G rs757576534
NR_003051.4(RMRP):n.148G>C rs753874439
NR_003051.4(RMRP):n.148G>T rs753874439
NR_003051.4(RMRP):n.14A>C rs534146932
NR_003051.4(RMRP):n.14A>G
NR_003051.4(RMRP):n.150C>A
NR_003051.4(RMRP):n.151A>G
NR_003051.4(RMRP):n.151A>T
NR_003051.4(RMRP):n.152A>G rs534955648
NR_003051.4(RMRP):n.153G>A
NR_003051.4(RMRP):n.153G>T
NR_003051.4(RMRP):n.153_154insT
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156_172dup rs1587918082
NR_003051.4(RMRP):n.157C>T
NR_003051.4(RMRP):n.158G>A rs7021463
NR_003051.4(RMRP):n.161T>C
NR_003051.4(RMRP):n.162C>A
NR_003051.4(RMRP):n.162C>G rs751373603
NR_003051.4(RMRP):n.162C>T rs751373603
NR_003051.4(RMRP):n.165G>A rs1405507797
NR_003051.4(RMRP):n.165G>C
NR_003051.4(RMRP):n.166C>T
NR_003051.4(RMRP):n.168G>A
NR_003051.4(RMRP):n.170G>A
NR_003051.4(RMRP):n.170_174dup rs2131808312
NR_003051.4(RMRP):n.172G>C
NR_003051.4(RMRP):n.173G>T
NR_003051.4(RMRP):n.175G>T rs1823609688
NR_003051.4(RMRP):n.178G>C
NR_003051.4(RMRP):n.179C>G
NR_003051.4(RMRP):n.180G>C rs1287720442
NR_003051.4(RMRP):n.181C>G
NR_003051.4(RMRP):n.181C>T rs188907984
NR_003051.4(RMRP):n.182G>C rs1004469515
NR_003051.4(RMRP):n.182delG rs1563906794
NR_003051.4(RMRP):n.186G>T rs908555769
NR_003051.4(RMRP):n.187C>A rs1051076135
NR_003051.4(RMRP):n.188G>A
NR_003051.4(RMRP):n.18C>G rs769169620
NR_003051.4(RMRP):n.190C>T
NR_003051.4(RMRP):n.192T>C rs1303560278
NR_003051.4(RMRP):n.195G>C rs761398394
NR_003051.4(RMRP):n.198A>G rs773432147
NR_003051.4(RMRP):n.198A>T rs773432147
NR_003051.4(RMRP):n.199G>A rs1384419955
NR_003051.4(RMRP):n.200C>T
NR_003051.4(RMRP):n.204C>G rs964504772
NR_003051.4(RMRP):n.207T>C
NR_003051.4(RMRP):n.210T>C rs1219992892
NR_003051.4(RMRP):n.211T>A
NR_003051.4(RMRP):n.212A>C rs1243849504
NR_003051.4(RMRP):n.213C>T
NR_003051.4(RMRP):n.214G>T
NR_003051.4(RMRP):n.214_217GCAG[1]
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.216A>T
NR_003051.4(RMRP):n.217_218insGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGCTTTTTGTTCCCGAGACCA rs2131807830
NR_003051.4(RMRP):n.217_218insTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGTTTTTTGTTCCCGAGACCA
NR_003051.4(RMRP):n.220A>C rs936059863
NR_003051.4(RMRP):n.222dup rs2131808061
NR_003051.4(RMRP):n.223G>A
NR_003051.4(RMRP):n.223G>C rs924622406
NR_003051.4(RMRP):n.223G>T
NR_003051.4(RMRP):n.224C>T rs1364719732
NR_003051.4(RMRP):n.225G>A rs1823603024
NR_003051.4(RMRP):n.227G>A rs1472791197
NR_003051.4(RMRP):n.227G>T
NR_003051.4(RMRP):n.228T>C rs2131808028
NR_003051.4(RMRP):n.230C>A rs1169686514
NR_003051.4(RMRP):n.230_231CG[3]
NR_003051.4(RMRP):n.231G>A
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.238A>G
NR_003051.4(RMRP):n.239A>G rs2131807964
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.242A>G
NR_003051.4(RMRP):n.242dup
NR_003051.4(RMRP):n.243C>G
NR_003051.4(RMRP):n.243C>T rs912498335
NR_003051.4(RMRP):n.246_254delGGGGCTCAT
NR_003051.4(RMRP):n.24C>T
NR_003051.4(RMRP):n.252C>T
NR_003051.4(RMRP):n.254T>C
NR_003051.4(RMRP):n.255T>G
NR_003051.4(RMRP):n.259A>G
NR_003051.4(RMRP):n.25C>G rs1345823900
NR_003051.4(RMRP):n.260G>A rs2131807882
NR_003051.4(RMRP):n.261C>G
NR_003051.4(RMRP):n.262G>A rs769080777
NR_003051.4(RMRP):n.263_264delCGinsAA
NR_003051.4(RMRP):n.264G>A
NR_003051.4(RMRP):n.266C>G
NR_003051.4(RMRP):n.266C>T rs962412737
NR_003051.4(RMRP):n.267T>C rs557906740
NR_003051.4(RMRP):n.267T>G
NR_003051.4(RMRP):n.269T>A rs572399988
NR_003051.4(RMRP):n.27A>G rs1554651331
NR_003051.4(RMRP):n.2G>C rs773520232
NR_003051.4(RMRP):n.31T>A rs1823627300
NR_003051.4(RMRP):n.33C>T
NR_003051.4(RMRP):n.34A>G
NR_003051.4(RMRP):n.35C>G rs758862328
NR_003051.4(RMRP):n.35C>T
NR_003051.4(RMRP):n.36A>C
NR_003051.4(RMRP):n.38T>C
NR_003051.4(RMRP):n.38T>G
NR_003051.4(RMRP):n.3G>A
NR_003051.4(RMRP):n.3G>C rs905844277
NR_003051.4(RMRP):n.3G>T
NR_003051.4(RMRP):n.40A>G
NR_003051.4(RMRP):n.42_56dup rs1823624249
NR_003051.4(RMRP):n.43A>G
NR_003051.4(RMRP):n.43A>T
NR_003051.4(RMRP):n.44C>G
NR_003051.4(RMRP):n.45_46insA
NR_003051.4(RMRP):n.45dup rs2131809106
NR_003051.4(RMRP):n.47T>C rs529328233
NR_003051.4(RMRP):n.49T>A
NR_003051.4(RMRP):n.49T>C rs1012176091
NR_003051.4(RMRP):n.49dup rs2131809055
NR_003051.4(RMRP):n.50T>A rs890235700
NR_003051.4(RMRP):n.50T>G
NR_003051.4(RMRP):n.52C>A rs1064793373
NR_003051.4(RMRP):n.52C>G rs1064793373
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.54C>A rs1229819090
NR_003051.4(RMRP):n.54delC
NR_003051.4(RMRP):n.57C>A rs999349961
NR_003051.4(RMRP):n.57C>G rs999349961
NR_003051.4(RMRP):n.57C>T rs999349961
NR_003051.4(RMRP):n.5T>G rs1023574374
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.63G>C rs544069410
NR_003051.4(RMRP):n.66T>C
NR_003051.4(RMRP):n.67A>C
NR_003051.4(RMRP):n.68G>A rs1235939791
NR_003051.4(RMRP):n.6C>A rs772443941
NR_003051.4(RMRP):n.70G>A rs1823622604
NR_003051.4(RMRP):n.71_72invGA
NR_003051.4(RMRP):n.72_73insT
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.73_74insT
NR_003051.4(RMRP):n.74A>G
NR_003051.4(RMRP):n.78C>G
NR_003051.4(RMRP):n.78C>T
NR_003051.4(RMRP):n.79C>T
NR_003051.4(RMRP):n.79_86delCCGGACCT rs2131808810
NR_003051.4(RMRP):n.7G>C rs552002151
NR_003051.4(RMRP):n.81G>C rs756128568
NR_003051.4(RMRP):n.81G>T
NR_003051.4(RMRP):n.83A>G
NR_003051.4(RMRP):n.84C>G rs1372572486
NR_003051.4(RMRP):n.84dup rs1222001621
NR_003051.4(RMRP):n.86dup
NR_003051.4(RMRP):n.87C>G rs545284014
NR_003051.4(RMRP):n.87C>T rs545284014
NR_003051.4(RMRP):n.88_89insA
NR_003051.4(RMRP):n.89G>A rs1264110860
NR_003051.4(RMRP):n.89_96dup rs1823619515
NR_003051.4(RMRP):n.8T>G rs587781140
NR_003051.4(RMRP):n.90G>C rs780957606
NR_003051.4(RMRP):n.91C>A rs1418128709
NR_003051.4(RMRP):n.91C>T
NR_003051.4(RMRP):n.92A>G rs752723025
NR_003051.4(RMRP):n.93G>A
NR_003051.4(RMRP):n.94A>G rs928762713
NR_003051.4(RMRP):n.94_95insT
NR_003051.4(RMRP):n.95dup
NR_003051.4(RMRP):n.96A>G
NR_003051.4(RMRP):n.97G>T rs970510851
NR_003051.4(RMRP):n.9G>A
NR_003051.4(RMRP):n.9G>C
Single allele

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