ClinVar Miner

List of variants studied for congenital limb malformation by Invitae

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41499
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) rs4614723 0.98884
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_003334.4(UBA1):c.811+9C>G rs4239964 0.98795
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_013352.4(DSE):c.1926T>C (p.Asn642=) rs560644 0.95438
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370 0.67566
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_001999.4(FBN2):c.533-2432T>C rs17677603 0.50039
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_001113525.2(ZNF276):c.*1323G>A rs1061646 0.40513
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001278689.2(EOGT):c.1084-19C>T rs4855541 0.37167
NM_006147.4(IRF6):c.459G>T (p.Ser153=) rs2013162 0.35925
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_006147.4(IRF6):c.175-5C>G rs7552506 0.32118
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) rs6021437 0.31314
NM_001278689.2(EOGT):c.465A>G (p.Arg155=) rs6781612 0.31041
NM_020436.5(SALL4):c.1056G>A (p.Ala352=) rs13038893 0.29998
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_173660.5(DOK7):c.332-18T>C rs2699425 0.28202
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839 0.27694
NM_001278689.2(EOGT):c.210+5G>A rs56761230 0.26744
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_001018115.3(FANCD2):c.3849+13A>G rs9811771 0.25616
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149 0.24315
NM_018486.3(HDAC8):c.159G>A (p.Gln53=) rs11093377 0.23437
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) rs10485183 0.23388
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) rs7175303 0.23372
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_012243.3(SLC35A3):c.357A>G (p.Leu119=) rs534252 0.22875
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_001278689.2(EOGT):c.1084-14C>G rs4855540 0.21801
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_002968.3(SALL1):c.3456C>T (p.His1152=) rs11645288 0.19907
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580 0.19378
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=) rs6850908 0.18472
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_173660.5(DOK7):c.1113A>C (p.Ser371=) rs6811856 0.18181
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997 0.16789
NM_005592.4(MUSK):c.402G>A (p.Glu134=) rs10980531 0.16445
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_003334.4(UBA1):c.1340G>A (p.Arg447His) rs2070169 0.13373
NM_001039523.2(CHRNA1):c.-478A>G rs16862847 0.13301
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051 0.13243
NM_173660.5(DOK7):c.101-11G>A rs2344209 0.13238
NM_006265.3(RAD21):c.1440T>C (p.Ala480=) rs1050838 0.13137
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly) rs35176182 0.12204
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_006265.3(RAD21):c.688+8G>A rs2921787 0.11506
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11254
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_005445.4(SMC3):c.970-8G>A rs11195199 0.11151
NM_005445.4(SMC3):c.1092-18T>C rs11195200 0.11131
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln) rs62621399 0.10677
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser) rs3743193 0.09931
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419 0.09566
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_020436.5(SALL4):c.2640G>C (p.Ser880=) rs17802735 0.09099
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772 0.08766
NM_003334.4(UBA1):c.2220G>A (p.Pro740=) rs2230147 0.08755
NM_003334.4(UBA1):c.1742-11G>C rs5953010 0.08744
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu) rs1206038 0.08528
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_001271938.2(MEGF8):c.1934-7T>C rs1206044 0.08176
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu) rs6091375 0.08032
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950 0.08024
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128 0.07918
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_020436.5(SALL4):c.2037C>T (p.Thr679=) rs13043248 0.07305
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) rs13336129 0.06797
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06297
NM_005445.4(SMC3):c.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180 0.05576
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_013352.4(DSE):c.1142T>C (p.Val381Ala) rs41313440 0.05356
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_018486.3(HDAC8):c.438-15C>T rs72630048 0.05226
NM_002968.3(SALL1):c.2343G>C (p.Leu781=) rs60270998 0.05087
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp) rs72818370 0.04955
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
NM_005592.4(MUSK):c.207-20T>C rs71501643 0.04718
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644 0.04562
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=) rs61995685 0.04463
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=) rs149155949 0.04455
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr) rs62621400 0.04196
NM_001113378.2(FANCI):c.2547A>G (p.Lys849=) rs7183618 0.04152
NM_002968.3(SALL1):c.2310C>T (p.Ile770=) rs61740811 0.04143
NM_013352.4(DSE):c.101C>T (p.Pro34Leu) rs35548455 0.04141
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04125
NM_001429.4(EP300):c.95-16T>C rs5758235 0.04095
NM_001429.4(EP300):c.1168+18G>A rs3818120 0.04073
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
NM_003334.4(UBA1):c.1742-18G>A rs5953009 0.03846
NM_006147.4(IRF6):c.-75-4A>G rs2235377 0.03786
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_006147.4(IRF6):c.820G>A (p.Val274Ile) rs2235371 0.03768
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile) rs74102304 0.03461
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255 0.03322
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802 0.03297
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_013352.4(DSE):c.53G>T (p.Cys18Phe) rs76186865 0.03160
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226 0.03114
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014 0.03012
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=) rs115052795 0.02871
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_005105.5(RBM8A):c.479+15G>A rs114923929 0.02823
NM_013352.4(DSE):c.844A>G (p.Ile282Val) rs34994230 0.02817
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230 0.02740
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) rs2298314 0.02715
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_001271938.2(MEGF8):c.1933+13A>G rs139484187 0.02617
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803 0.02616
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_133433.4(NIPBL):c.4561-16C>T rs115403650 0.02404
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783 0.02385
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) rs61737142 0.02370
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_020436.5(SALL4):c.645C>G (p.Leu215=) rs61737139 0.02226
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036 0.02192
NM_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681 0.02176
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033 0.02173
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_006147.4(IRF6):c.1153T>C (p.Leu385=) rs61099902 0.02121
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453 0.02119
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_003289.4(TPM2):c.773-4_773-3insA rs1554658501 0.02101
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02054
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895 0.01981
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001374353.1(GLI2):c.1633-17C>T rs78949549 0.01801
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143 0.01764
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423 0.01721
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152 0.01700
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630 0.01684
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598 0.01653
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498 0.01637
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435 0.01562
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422 0.01536
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246 0.01393
NM_018062.4(FANCL):c.1077T>C (p.Cys359=) rs11539575 0.01385
NM_013352.4(DSE):c.1118+15G>A rs116330739 0.01381
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=) rs114914860 0.01363
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894 0.01345
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_173660.5(DOK7):c.653-19A>C rs191981243 0.01231
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447 0.01216
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_032634.4(PIGO):c.1404A>C (p.Ala468=) rs35287398 0.01214
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_020436.5(SALL4):c.408T>C (p.Asn136=) rs76870996 0.01190
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_002968.3(SALL1):c.2178G>A (p.Arg726=) rs144019351 0.01142
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893 0.01090
NM_032634.4(PIGO):c.423C>T (p.Gly141=) rs116248521 0.01090
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_022725.4(FANCF):c.624G>T (p.Ala208=) rs7103674 0.01048
NM_001113525.2(ZNF276):c.*1316C>T rs9282680 0.01028
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071 0.00974
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721 0.00968
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_001346754.2(PIGW):c.1020C>T (p.Ala340=) rs74323480 0.00953
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_002968.3(SALL1):c.2544A>G (p.Gln848=) rs45459896 0.00931
NM_001271938.2(MEGF8):c.6641+15G>A rs118098511 0.00926
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372 0.00921
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192 0.00916
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) rs116519044 0.00914
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304 0.00870
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) rs773533401 0.00867
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_022725.4(FANCF):c.96C>T (p.Arg32=) rs151253274 0.00838
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) rs111894696 0.00835
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850 0.00832
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_000751.3(CHRND):c.932+20G>A rs114022008 0.00793
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871 0.00791
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_002968.3(SALL1):c.390G>A (p.Pro130=) rs75156807 0.00781
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00778
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_001271938.2(MEGF8):c.5011+15C>T rs78233194 0.00745
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) rs74784454 0.00742
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001271938.2(MEGF8):c.5489-16C>T rs35875097 0.00707
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_032444.4(SLX4):c.1924+19C>A rs113075119 0.00694
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_003334.4(UBA1):c.2308A>C (p.Asn770His) rs143044923 0.00683
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096 0.00664
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His) rs79843573 0.00659
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954 0.00648
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796 0.00640
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997 0.00639
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu) rs75160167 0.00623
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529 0.00618
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_001278689.2(EOGT):c.620+17G>A rs144884919 0.00611
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834 0.00602
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) rs75579358 0.00578
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_013352.4(DSE):c.114C>T (p.Ala38=) rs36061922 0.00553
NM_000751.3(CHRND):c.1253-8G>A rs144545619 0.00548
NM_003334.4(UBA1):c.2364C>T (p.Ala788=) rs2228658 0.00548
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405 0.00506
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414 0.00506
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_013352.4(DSE):c.711G>C (p.Leu237=) rs140034597 0.00484
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_002968.3(SALL1):c.292A>G (p.Met98Val) rs28643388 0.00481
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_005105.5(RBM8A):c.240C>T (p.Val80=) rs1806851 0.00473
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) rs115447262 0.00473
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681 0.00470
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332 0.00462
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys) rs61730251 0.00456
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val) rs149125003 0.00450
NM_022725.4(FANCF):c.883G>A (p.Val295Ile) rs7103293 0.00448
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 0.00427
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_006265.3(RAD21):c.938-11T>C rs200333487 0.00417
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000136.3(FANCC):c.-79+5G>A rs4647350 0.00411
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998 0.00407
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) rs145002451 0.00402
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_173660.5(DOK7):c.54+19C>T rs757053604 0.00400
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752 0.00398
NM_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049 0.00396
NM_032444.4(SLX4):c.336G>A (p.Pro112=) rs79126454 0.00393
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680 0.00382
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603 0.00380
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_002334.4(LRP4):c.2151C>T (p.Gly717=) rs114920029 0.00361
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=) rs145177450 0.00356
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_000751.3(CHRND):c.1371+7G>T rs188395796 0.00350
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=) rs115592862 0.00337
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu) rs59706816 0.00333
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_002334.4(LRP4):c.2506+18G>A rs148998354 0.00327
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_000135.4(FANCA):c.1626+16C>T rs1800333 0.00322
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=) rs11556721 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_017617.5(NOTCH1):c.5018+20C>T rs139772121 0.00320
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) rs117392855 0.00320
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=) rs142667852 0.00318
NM_001374353.1(GLI2):c.2211G>T (p.Arg737=) rs142856393 0.00317
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly) rs139646526 0.00316
NM_020937.4(FANCM):c.4222+7T>G rs148675704 0.00316
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys) rs150253578 0.00314
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_005445.4(SMC3):c.92-19A>G rs140102981 0.00310
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_001346754.2(PIGW):c.1132G>C (p.Val378Leu) rs79448900 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135 0.00308
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535 0.00307
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu) rs140892471 0.00307
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_005592.4(MUSK):c.80-8C>T rs199705752 0.00301
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_006265.3(RAD21):c.786C>T (p.Asp262=) rs34653007 0.00300
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595 0.00300
NM_006265.3(RAD21):c.1515C>G (p.Pro505=) rs9297560 0.00298
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00291
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu) rs146454164 0.00290
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00289
NM_001429.4(EP300):c.1623-20T>C rs151092312 0.00288
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_001271938.2(MEGF8):c.5488+12T>C rs188285054 0.00284
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_013352.4(DSE):c.209G>A (p.Arg70His) rs147683614 0.00278
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_003334.4(UBA1):c.346-3C>A rs149947901 0.00271
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_001374353.1(GLI2):c.148+14C>T rs190309269 0.00269
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932 0.00268
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596 0.00266
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu) rs116007086 0.00262
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_016277.5(RAB23):c.481+5A>G rs150762175 0.00259
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser) rs61732851 0.00254
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756 0.00254
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=) rs113819179 0.00254
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln) rs148382699 0.00253
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204 0.00251
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_003334.4(UBA1):c.2595A>G (p.Ala865=) rs139492208 0.00247
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) rs61748876 0.00246
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) rs150549656 0.00245
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546 0.00243
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_173660.5(DOK7):c.332-69_332-18del rs1560212382 0.00242
NM_003334.4(UBA1):c.1233+13G>A rs141049438 0.00241
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_006147.4(IRF6):c.759T>C (p.Tyr253=) rs41303263 0.00237
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_133433.4(NIPBL):c.3502+17A>C rs144725401 0.00230
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001374353.1(GLI2):c.255-17G>T rs199499256 0.00227
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys) rs199980106 0.00227
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_001999.4(FBN2):c.2428+6T>A rs77493726 0.00225
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_005055.5(RAPSN):c.913-15A>G rs185204384 0.00221
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488 0.00217
NM_005055.5(RAPSN):c.960G>A (p.Gly320=) rs145357531 0.00216
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_022725.4(FANCF):c.786A>G (p.Leu262=) rs11026706 0.00215
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) rs138878258 0.00211
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_005592.4(MUSK):c.914-14T>G rs146206123 0.00207
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) rs147158259 0.00206
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) rs144592743 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318 0.00200
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser) rs139022152 0.00200
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_130468.4(CHST14):c.288G>A (p.Arg96=) rs371684007 0.00195
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=) rs139648725 0.00193
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly) rs151178507 0.00188
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) rs141224456 0.00186
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=) rs74533173 0.00185
NM_022725.4(FANCF):c.246C>T (p.Asn82=) rs139724351 0.00185
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His) rs139686081 0.00181
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) rs35363262 0.00180
NM_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) rs764100516 0.00178
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130 0.00178
NM_133433.4(NIPBL):c.65-17G>C rs201348552 0.00178
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=) rs145886667 0.00177
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646 0.00176
NM_020937.4(FANCM):c.491A>C (p.His164Pro) rs144278051 0.00176
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_002334.4(LRP4):c.1915+6C>T rs184555624 0.00175
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) rs147287474 0.00175
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu) rs140088149 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_173660.5(DOK7):c.921C>T (p.Ala307=) rs138148221 0.00170
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210 0.00164
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn) rs111944585 0.00158
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_018062.4(FANCL):c.817T>C (p.Leu273=) rs61753272 0.00156
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237 0.00153
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys) rs140975523 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_173660.5(DOK7):c.532+18G>A rs200487431 0.00153
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=) rs58735123 0.00148
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495 0.00147
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_020436.5(SALL4):c.2376T>C (p.Asn792=) rs143601538 0.00146
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr) rs145275500 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292 0.00145
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00142
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly) rs140051968 0.00141
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00140
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_005592.4(MUSK):c.79+11G>A rs139516442 0.00138
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile) rs202073484 0.00135
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632 0.00133
NM_017617.5(NOTCH1):c.865+18C>T rs55677618 0.00133
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_173660.5(DOK7):c.1008G>A (p.Ser336=) rs185050737 0.00131
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) rs146061601 0.00128
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
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_003334.4(UBA1):c.480+19C>G rs200340536 0.00125
NM_005592.4(MUSK):c.1361-12T>C rs115337040 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001113378.2(FANCI):c.3925-14C>G rs148365638 0.00124
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_001271938.2(MEGF8):c.4504-14G>A rs111624233 0.00124
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) rs142296407 0.00124
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_014918.5(CHSY1):c.975C>T (p.Ser325=) rs142783588 0.00124
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_001374353.1(GLI2):c.1662C>T (p.Cys554=) rs143055766 0.00120
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_018486.3(HDAC8):c.57C>T (p.Ile19=) rs145362166 0.00120
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp) rs144104545 0.00118
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=) rs150097733 0.00112
NM_058216.3(RAD51C):c.837+13T>C rs188613030 0.00112
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798 0.00111
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192 0.00111
NM_130468.4(CHST14):c.210C>T (p.Pro70=) rs191997027 0.00111
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_018062.4(FANCL):c.402T>C (p.Ser134=) rs145284589 0.00110
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_005592.4(MUSK):c.1941C>T (p.Val647=) rs200312379 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_173660.5(DOK7):c.332-43_332-18del rs781466203 0.00108
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.4949-18C>G rs372234336 0.00106
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) rs143818932 0.00106
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_005592.4(MUSK):c.1683G>A (p.Leu561=) rs192173278 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_014918.5(CHSY1):c.612G>A (p.Thr204=) rs145031427 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu) rs147760280 0.00102
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) rs151090814 0.00101
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00101
NM_001999.4(FBN2):c.4222+12A>G rs79445561 0.00101
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_003289.4(TPM2):c.564-18dup rs776086128 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_005592.4(MUSK):c.1026G>A (p.Ala342=) rs200434321 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_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_173660.5(DOK7):c.816C>G (p.His272Gln) rs115614731 0.00098
NM_001271938.2(MEGF8):c.5344-14C>T rs369531263 0.00097
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=) rs373759775 0.00097
NM_147127.5(EVC2):c.707-18G>A rs144093697 0.00097
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=) rs140035679 0.00096
NM_001271938.2(MEGF8):c.7136+10A>C rs750945705 0.00096
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_003334.4(UBA1):c.909+12G>A rs367556596 0.00095
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) rs151009402 0.00095
NM_032634.4(PIGO):c.2124G>A (p.Leu708=) rs201657672 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_001374353.1(GLI2):c.129A>C (p.Ala43=) rs201041526 0.00094
NM_002334.4(LRP4):c.4951+10A>G rs371455422 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_002968.3(SALL1):c.478G>A (p.Gly160Ser) rs199760974 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_001429.4(EP300):c.6675G>A (p.Gln2225=) rs147880144 0.00092
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_020937.4(FANCM):c.1397-12A>G rs560956489 0.00092
NM_023110.3(FGFR1):c.1081+20C>T rs17175982 0.00092
NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr) rs115866745 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu) rs367649187 0.00091
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) rs151237975 0.00091
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) rs143006771 0.00091
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser) rs117789606 0.00089
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_005592.4(MUSK):c.358+20G>A rs144807641 0.00089
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939 0.00089
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_003334.4(UBA1):c.117+9C>T rs371344095 0.00088
NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu) rs150075110 0.00088
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_001374353.1(GLI2):c.2199T>G (p.Thr733=) rs146909860 0.00086
NM_001374353.1(GLI2):c.291C>T (p.Asp97=) rs199671413 0.00086
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_005105.5(RBM8A):c.318C>T (p.Leu106=) rs139097271 0.00086
NM_014918.5(CHSY1):c.21C>T (p.Arg7=) rs751409111 0.00086
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222 0.00084
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser) rs138028827 0.00084
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001429.4(EP300):c.2998-14dup rs560058125 0.00083
NM_001429.4(EP300):c.3143-9T>C rs199773872 0.00083
NM_001999.4(FBN2):c.3974-19T>C rs112950479 0.00083
NM_002334.4(LRP4):c.257G>A (p.Arg86His) rs138239756 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu) rs45600543 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_147127.5(EVC2):c.1005+3G>A rs141371552 0.00082
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001429.4(EP300):c.2054-3T>C rs375287913 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr) rs149292107 0.00079
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924 0.00078
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) rs140907869 0.00077
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002334.4(LRP4):c.141C>G (p.Ala47=) rs543418199 0.00076
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) rs145460760 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met) rs61744648 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=) rs141851878 0.00076
NM_000079.4(CHRNA1):c.189+12G>A rs201168898 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001374353.1(GLI2):c.1533C>T (p.Thr511=) rs137960978 0.00075
NM_002334.4(LRP4):c.5520T>C (p.His1840=) rs144350829 0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala) rs139192223 0.00074
NM_001374353.1(GLI2):c.4073T>C (p.Leu1358Pro) rs371219507 0.00074
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00074
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=) rs149110951 0.00073
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=) rs149290823 0.00073
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00073
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) rs77538589 0.00073
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00072
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_005592.4(MUSK):c.1779-7C>T rs114362384 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_023110.3(FGFR1):c.1855-16C>T rs371160786 0.00071
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_004380.3(CREBBP):c.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278 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_153717.3(EVC):c.802-15_802-12del rs386671011 0.00069
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00068
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_006265.3(RAD21):c.1471-11A>G rs112473657 0.00068
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_017617.5(NOTCH1):c.1669+15C>T rs576849563 0.00068
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_001271938.2(MEGF8):c.8433C>T (p.His2811=) rs371191311 0.00067
NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu) rs140481649 0.00067
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573 0.00067
NM_003334.4(UBA1):c.648A>G (p.Pro216=) rs146676571 0.00067
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln) rs139398367 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610 0.00066
NM_020937.4(FANCM):c.990A>G (p.Thr330=) rs138677111 0.00066
NM_032444.4(SLX4):c.2667A>G (p.Gln889=) rs146790631 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) rs144533405 0.00065
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397 0.00064
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=) rs142395521 0.00064
NM_005592.4(MUSK):c.1719T>C (p.Asn573=) rs373118888 0.00064
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00064
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00064
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745 0.00064
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=) rs181219364 0.00063
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met) rs201180083 0.00063
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val) rs147688807 0.00063
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser) rs376509451 0.00063
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00062
NM_001429.4(EP300):c.94+13A>G rs201124490 0.00062
NM_003289.4(TPM2):c.563+17G>A rs201633747 0.00062
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533 0.00062
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125 0.00061
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000 0.00061
NM_002334.4(LRP4):c.570C>T (p.Pro190=) rs147353838 0.00061
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 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_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_002334.4(LRP4):c.677-14T>C rs373597511 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_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_173660.5(DOK7):c.1020C>T (p.Ile340=) rs370838856 0.00059
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123 0.00058
NM_001113378.2(FANCI):c.1584-15C>G rs199531931 0.00058
NM_001271938.2(MEGF8):c.3843G>A (p.Arg1281=) rs148792547 0.00058
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) rs138589242 0.00058
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_017617.5(NOTCH1):c.140+17C>T rs377269443 0.00058
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00058
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val) rs139383231 0.00058
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_000751.3(CHRND):c.1253-9C>T rs2853458 0.00057
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 0.00057
NM_001113378.2(FANCI):c.1698+16G>A rs142941067 0.00057
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555 0.00057
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_001018115.3(FANCD2):c.205+9T>G rs34113138 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) rs73033442 0.00055
NM_020937.4(FANCM):c.4673-12A>G rs373163994 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) rs146899588 0.00054
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_014918.5(CHSY1):c.261C>T (p.Leu87=) rs369927768 0.00054
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001374353.1(GLI2):c.148+5T>C rs201273354 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) rs146325649 0.00053
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly) rs139946652 0.00053
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866 0.00053
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188 0.00052
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00052
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_002334.4(LRP4):c.676+13G>A rs200963011 0.00052
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg) rs149649831 0.00052
NM_014918.5(CHSY1):c.573C>T (p.Ser191=) rs147152103 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_032444.4(SLX4):c.2756C>T (p.Thr919Ile) rs145533919 0.00052
NM_000135.4(FANCA):c.893+19C>G rs377406711 0.00051
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn) rs202209156 0.00051
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248 0.00051
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) rs140534765 0.00051
NM_005445.4(SMC3):c.2535+18T>G rs370144623 0.00051
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_013352.4(DSE):c.1173G>A (p.Leu391=) rs146663575 0.00051
NM_013352.4(DSE):c.1653G>A (p.Leu551=) rs147124340 0.00051
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371 0.00051
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00051
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00051
NM_020937.4(FANCM):c.5067G>A (p.Ala1689=) rs148900115 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279 0.00049
NM_001113525.2(ZNF276):c.*470A>C rs372268907 0.00049
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491 0.00049
NM_002968.3(SALL1):c.129C>T (p.His43=) rs368688611 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys) rs188840021 0.00049
NM_014918.5(CHSY1):c.2040C>G (p.Ala680=) rs145837770 0.00049
NM_014918.5(CHSY1):c.698G>A (p.Arg233Gln) rs146924321 0.00049
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_022725.4(FANCF):c.672C>T (p.Pro224=) rs148955347 0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_147127.5(EVC2):c.1886+7C>G rs376738238 0.00049
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_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608 0.00048
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met) rs146997253 0.00048
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_003334.4(UBA1):c.39C>T (p.Ser13=) rs141450062 0.00048
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 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_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273 0.00047
NM_020937.4(FANCM):c.1551G>A (p.Thr517=) rs139535827 0.00047
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=) rs61749475 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_153717.3(EVC):c.175-18C>G rs114621329 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_000474.4(TWIST1):c.420G>C (p.Ser140=) rs73079389 0.00046
NM_000751.3(CHRND):c.408C>T (p.Tyr136=) rs112921420 0.00046
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala) rs970835131 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00046
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234 0.00046
NM_020937.4(FANCM):c.159C>T (p.Asp53=) rs147559750 0.00046
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln) rs138151018 0.00046
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met) rs145353518 0.00046
NM_130468.4(CHST14):c.635T>C (p.Val212Ala) rs144629123 0.00046
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 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_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001271938.2(MEGF8):c.281C>T (p.Pro94Leu) rs570125469 0.00045
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) rs148865136 0.00045
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_003289.4(TPM2):c.726C>T (p.Ala242=) rs76414035 0.00045
NM_003334.4(UBA1):c.1137C>T (p.Asp379=) rs143935711 0.00045
NM_005055.5(RAPSN):c.1166+16G>A rs377580268 0.00045
NM_006265.3(RAD21):c.468A>G (p.Gln156=) rs530697556 0.00045
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00045
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677 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_173660.5(DOK7):c.1258C>G (p.Pro420Ala) rs150497723 0.00045
NM_001999.4(FBN2):c.5675-8dup rs767398234 0.00044
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val) rs375762569 0.00044
NM_006306.4(SMC1A):c.2862+14C>T rs180705944 0.00044
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581 0.00044
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337 0.00044
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala) rs149359253 0.00044
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) rs145078336 0.00044
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 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_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00043
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 0.00043
NM_005592.4(MUSK):c.1057C>A (p.His353Asn) rs201791900 0.00043
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200 0.00043
NM_020436.5(SALL4):c.2493A>G (p.Arg831=) rs79909922 0.00043
NM_020436.5(SALL4):c.2649C>T (p.Ser883=) rs772770482 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr) rs17136464 0.00043
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr) rs138514909 0.00043
NM_147127.5(EVC2):c.229-4T>G rs375534154 0.00043
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) rs61736853 0.00042
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) rs150681693 0.00042
NM_006265.3(RAD21):c.1617A>G (p.Glu539=) rs138040512 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000751.3(CHRND):c.1416C>T (p.Leu472=) rs145857136 0.00041
NM_001271938.2(MEGF8):c.6274-9C>G rs373417416 0.00041
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853 0.00041
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195 0.00041
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) rs199747378 0.00041
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn) rs139535571 0.00041
NM_003334.4(UBA1):c.873C>T (p.Ile291=) rs143062483 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_018486.3(HDAC8):c.351G>T (p.Gly117=) rs199969298 0.00041
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) rs147195029 0.00041
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn) rs199895244 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_023110.3(FGFR1):c.1854+19C>T rs199830036 0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys) rs138418494 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_032444.4(SLX4):c.2160+18C>T rs373726275 0.00040
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly) rs925811677 0.00039
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_020436.5(SALL4):c.24A>G (p.Lys8=) rs149430070 0.00039
NM_020937.4(FANCM):c.2127G>A (p.Gln709=) rs141452622 0.00039
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser) rs201382399 0.00039
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg) rs140016031 0.00038
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr) rs186577030 0.00038
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) rs141213903 0.00038
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005592.4(MUSK):c.1928-4C>A rs375406874 0.00038
NM_012243.3(SLC35A3):c.63T>G (p.Val21=) rs141542767 0.00038
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 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_032634.4(PIGO):c.655+7A>C rs118002220 0.00038
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00038
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) rs139133047 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_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185 0.00037
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=) rs138235390 0.00037
NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile) rs138909736 0.00037
NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr) rs111840592 0.00037
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_016277.5(RAB23):c.482-13C>G rs372666007 0.00037
NM_023110.3(FGFR1):c.177C>T (p.Asp59=) rs367880371 0.00037
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_147127.5(EVC2):c.3272+17G>A rs367667945 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_173660.5(DOK7):c.332-5C>T rs375468951 0.00037
NM_000079.4(CHRNA1):c.780G>A (p.Gly260=) rs148502695 0.00036
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser) rs545987863 0.00036
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_000751.3(CHRND):c.44C>T (p.Ala15Val) rs142531974 0.00036
NM_000751.3(CHRND):c.813G>A (p.Pro271=) rs147073853 0.00036
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018 0.00036
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_001374353.1(GLI2):c.2271T>C (p.Ser757=) rs553560055 0.00036
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_002334.4(LRP4):c.1832G>A (p.Arg611His) rs140282454 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_018062.4(FANCL):c.534A>G (p.Thr178=) rs151181785 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_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.961A>C (p.Arg321=) rs138720101 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) rs199606134 0.00036
NM_173660.5(DOK7):c.972G>A (p.Pro324=) rs373041663 0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000751.3(CHRND):c.1066C>T (p.Pro356Ser) rs147050939 0.00035
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser) rs139190636 0.00035
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln) rs148442092 0.00035
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=) rs145751002 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231 0.00035
NM_001999.4(FBN2):c.6511+4C>T rs368610241 0.00035
NM_003334.4(UBA1):c.1242C>T (p.Ser414=) rs369843264 0.00035
NM_005592.4(MUSK):c.2082C>A (p.Pro694=) rs201616041 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_000135.4(FANCA):c.1827-19T>C rs370677007 0.00034
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121 0.00034
NM_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=) rs377093238 0.00034
NM_001374353.1(GLI2):c.1632+11G>A rs140347335 0.00034
NM_001999.4(FBN2):c.3087C>T (p.Val1029=) rs777392642 0.00034
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_003334.4(UBA1):c.176+13A>G rs186890744 0.00034
NM_005592.4(MUSK):c.300G>A (p.Thr100=) rs180928221 0.00034
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg) rs144953114 0.00034
NM_006265.3(RAD21):c.1705-12G>A rs189362023 0.00034
NM_012243.3(SLC35A3):c.933G>A (p.Leu311=) rs139479346 0.00034
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_147127.5(EVC2):c.1470+20A>G rs375025494 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069 0.00033
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00033
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) rs140950898 0.00033
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=) rs116615540 0.00033
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_147127.5(EVC2):c.48G>T (p.Gly16=) rs537265864 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_000751.3(CHRND):c.619+4C>A rs367936158 0.00032
NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165 0.00032
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159 0.00032
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) rs200750233 0.00032
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644 0.00032
NM_018062.4(FANCL):c.546C>T (p.Ser182=) rs200679501 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_032634.4(PIGO):c.969T>G (p.Leu323=) rs142658052 0.00032
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu) rs142820200 0.00032
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys) rs115883468 0.00032
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000751.3(CHRND):c.933-9T>C rs199592458 0.00031
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys) rs747865842 0.00031
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 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_001271938.2(MEGF8):c.4264G>A (p.Val1422Met) rs141221243 0.00031
NM_001271938.2(MEGF8):c.5512A>G (p.Met1838Val) rs200501111 0.00031
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=) rs755400663 0.00031
NM_001278689.2(EOGT):c.50G>A (p.Ser17Asn) rs139168099 0.00031
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly) rs142067039 0.00031
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=) rs200149538 0.00031
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202 0.00031
NM_002334.4(LRP4):c.3004+19G>T rs376749778 0.00031
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) rs144169411 0.00031
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=) rs144649776 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_004629.2(FANCG):c.794C>T (p.Ala265Val) rs764992007 0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys) rs578228721 0.00031
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582 0.00031
NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu) rs139485493 0.00031
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser) rs150402866 0.00031
NM_032444.4(SLX4):c.1470C>T (p.Leu490=) rs139766312 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_133433.4(NIPBL):c.1986A>C (p.Lys662Asn) rs781213650 0.00031
NM_173660.5(DOK7):c.975G>A (p.Arg325=) rs370661591 0.00031
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549 0.00030
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234 0.00030
NM_000751.3(CHRND):c.1067C>T (p.Pro356Leu) rs200671975 0.00030
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177 0.00030
NM_002334.4(LRP4):c.2815-6T>G rs372210790 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00030
NM_018486.3(HDAC8):c.933G>A (p.Thr311=) rs183108231 0.00030
NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser) rs76648342 0.00030
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_173660.5(DOK7):c.567G>A (p.Gly189=) rs141808910 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_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001018115.3(FANCD2):c.1134+8T>G rs373232961 0.00029
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 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_001374353.1(GLI2):c.3572G>A (p.Arg1191His) rs200537256 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala) rs149992874 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00029
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu) rs199811263 0.00029
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser) rs376635652 0.00029
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_006265.3(RAD21):c.735C>T (p.Pro245=) rs199767556 0.00029
NM_013352.4(DSE):c.1004G>A (p.Arg335His) rs371480627 0.00029
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=) rs201889382 0.00029
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys) rs146151355 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr) rs749920386 0.00029
NM_032444.4(SLX4):c.2210G>A (p.Arg737His) rs146901714 0.00029
NM_032444.4(SLX4):c.3663G>A (p.Ala1221=) rs760656992 0.00029
NM_032634.4(PIGO):c.2197C>T (p.Arg733Trp) rs748093757 0.00029
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036 0.00028
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg) rs757737676 0.00028
NM_003334.4(UBA1):c.132C>T (p.Asn44=) rs368727585 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_005055.5(RAPSN):c.816C>T (p.Ala272=) rs779303374 0.00028
NM_005055.5(RAPSN):c.903G>A (p.Ala301=) rs56040810 0.00028
NM_020436.5(SALL4):c.702G>A (p.Gln234=) rs146143890 0.00028
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr) rs753304968 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln) rs201140958 0.00027
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_012243.3(SLC35A3):c.753+9T>G rs200265486 0.00027
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys) rs75034086 0.00027
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser) rs535702482 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_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr) rs539190403 0.00027
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln) rs144269117 0.00027
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) rs367751078 0.00026
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser) rs144332316 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 0.00026
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=) rs373710119 0.00026
NM_001271938.2(MEGF8):c.4041C>T (p.Phe1347=) rs148895205 0.00026
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999 0.00026
NM_001999.4(FBN2):c.5353+16G>A rs187448568 0.00026
NM_001999.4(FBN2):c.8364+18dup rs752497923 0.00026
NM_006265.3(RAD21):c.1185G>A (p.Pro395=) rs138247094 0.00026
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe) rs778545156 0.00026
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_020436.5(SALL4):c.1358A>G (p.Asn453Ser) rs146644204 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_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln) rs370039804 0.00026
NM_173660.5(DOK7):c.32T>C (p.Val11Ala) rs375168516 0.00026
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_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000751.3(CHRND):c.805T>C (p.Tyr269His) rs141627135 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001271938.2(MEGF8):c.1275T>C (p.Leu425=) rs370779185 0.00025
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu) rs368693886 0.00025
NM_001271938.2(MEGF8):c.3625C>T (p.Arg1209Trp) rs372257661 0.00025
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) rs201585639 0.00025
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr) rs187589555 0.00025
NM_005592.4(MUSK):c.2331C>T (p.Asn777=) rs56394142 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_032634.4(PIGO):c.2705C>G (p.Thr902Ser) rs372802683 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
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_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 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_001271938.2(MEGF8):c.262G>A (p.Val88Met) rs372955721 0.00024
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=) rs147314921 0.00024
NM_001374353.1(GLI2):c.392G>A (p.Arg131His) rs149180414 0.00024
NM_001374353.1(GLI2):c.4473C>T (p.Pro1491=) rs139840265 0.00024
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492 0.00024
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_002334.4(LRP4):c.1059G>A (p.Thr353=) rs144710408 0.00024
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr) rs149478641 0.00024
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_005055.5(RAPSN):c.776G>A (p.Arg259His) rs766051613 0.00024
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) rs142885560 0.00024
NM_014918.5(CHSY1):c.2352A>G (p.Lys784=) rs201612305 0.00024
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.879C>T (p.Thr293=) rs370170212 0.00024
NM_020436.5(SALL4):c.2664C>T (p.His888=) rs11698418 0.00024
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile) rs148154311 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_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_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_032634.4(PIGO):c.794G>A (p.Arg265His) rs200924324 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_147127.5(EVC2):c.2898G>A (p.Ser966=) rs150055324 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_173660.5(DOK7):c.54+23_54+24insA rs759348603 0.00024
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu) rs146895834 0.00024
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=) rs145953386 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_001271938.2(MEGF8):c.8373C>T (p.Pro2791=) rs374532854 0.00023
NM_001374353.1(GLI2):c.243C>T (p.His81=) rs147403076 0.00023
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) rs142653419 0.00023
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=) rs140524372 0.00023
NM_003334.4(UBA1):c.1296C>T (p.Leu432=) rs147825775 0.00023
NM_003334.4(UBA1):c.2793G>T (p.Leu931=) rs782340410 0.00023
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp) rs201014623 0.00023
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) rs200092299 0.00023
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573 0.00023
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_020436.5(SALL4):c.1113C>G (p.Val371=) rs77810153 0.00023
NM_020436.5(SALL4):c.2260G>A (p.Val754Met) rs199607966 0.00023
NM_153717.3(EVC):c.174+16A>G rs1049950431 0.00023
NM_000079.4(CHRNA1):c.861G>A (p.Thr287=) rs144020157 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_001018115.3(FANCD2):c.3654A>G (p.Ala1218=) rs556548817 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_001271938.2(MEGF8):c.8133G>A (p.Pro2711=) rs370578585 0.00022
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser) rs149858781 0.00022
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611 0.00022
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_002334.4(LRP4):c.378G>A (p.Leu126=) rs201749120 0.00022
NM_002968.3(SALL1):c.1200G>A (p.Ser400=) rs79302764 0.00022
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp) rs201884798 0.00022
NM_005592.4(MUSK):c.1743C>A (p.Ile581=) rs756096336 0.00022
NM_005592.4(MUSK):c.549A>G (p.Glu183=) rs369254308 0.00022
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458 0.00022
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_018062.4(FANCL):c.155+9G>C rs370392756 0.00022
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro) rs192534185 0.00022
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071 0.00022
NM_130468.4(CHST14):c.993C>A (p.Ala331=) rs138273557 0.00022
NM_133433.4(NIPBL):c.869-16C>T rs3736396 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_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser) rs377555406 0.00022
NM_173660.5(DOK7):c.282C>T (p.His94=) rs377025553 0.00022
NM_173660.5(DOK7):c.846C>T (p.Thr282=) rs141147662 0.00022
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=) rs762327875 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_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_001113378.2(FANCI):c.3006+11C>T rs372049835 0.00021
NM_001278689.2(EOGT):c.516-9A>G rs374408350 0.00021
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala) rs377454502 0.00021
NM_001374353.1(GLI2):c.2007G>A (p.Thr669=) rs138592005 0.00021
NM_001429.4(EP300):c.6043A>G (p.Met2015Val) rs1351718424 0.00021
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=) rs140012679 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) rs150734530 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00021
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00021
NM_013352.4(DSE):c.2129C>T (p.Ala710Val) rs533772643 0.00021
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) rs143226402 0.00021
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys) rs370264590 0.00021
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.5604C>T (p.Asp1868=) rs370916730 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851 0.00021
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_020436.5(SALL4):c.447G>A (p.Ala149=) rs147838161 0.00021
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650 0.00021
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro) rs950301098 0.00021
NM_021922.3(FANCE):c.970-16C>T rs117779586 0.00021
NM_022725.4(FANCF):c.687A>T (p.Ser229=) rs776140806 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_147127.5(EVC2):c.894C>T (p.His298=) rs143027693 0.00021
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu) rs141141719 0.00021
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) rs151081792 0.00020
NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu) rs137852803 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_000751.3(CHRND):c.932+10G>A rs370309294 0.00020
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1699-3C>G rs372441627 0.00020
NM_001271938.2(MEGF8):c.740-6C>T rs372546741 0.00020
NM_001346754.2(PIGW):c.1241T>C (p.Ile414Thr) rs201893415 0.00020
NM_001374353.1(GLI2):c.2502C>T (p.Ser834=) rs765818439 0.00020
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=) rs137914321 0.00020
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) rs146501212 0.00020
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_003334.4(UBA1):c.1049G>A (p.Arg350His) rs5906354 0.00020
NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn) rs200808685 0.00020
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val) rs780349909 0.00020
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.3325+11G>A rs373779257 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_020937.4(FANCM):c.2267G>A (p.Arg756His) rs142763060 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_020937.4(FANCM):c.5205G>A (p.Ser1735=) rs138090463 0.00020
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_021922.3(FANCE):c.246G>A (p.Glu82=) rs769779495 0.00020
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851 0.00020
NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys) rs376829041 0.00020
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr) rs146863119 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_000135.4(FANCA):c.3912A>G (p.Ala1304=) rs545021222 0.00019
NM_000136.3(FANCC):c.-79+7G>T rs551170090 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000136.3(FANCC):c.355_358del (p.Ser119fs) rs750003253 0.00019
NM_000751.3(CHRND):c.728G>A (p.Arg243His) rs148869069 0.00019
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 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_001271938.2(MEGF8):c.4011G>A (p.Thr1337=) rs149716961 0.00019
NM_001271938.2(MEGF8):c.5492C>T (p.Ser1831Leu) rs139959427 0.00019
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=) rs145630132 0.00019
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys) rs368008171 0.00019
NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly) rs1260890491 0.00019
NM_001374353.1(GLI2):c.637G>A (p.Val213Met) rs202139687 0.00019
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_001999.4(FBN2):c.27C>G (p.Leu9=) rs369714882 0.00019
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_002968.3(SALL1):c.1950C>T (p.Gly650=) rs138705495 0.00019
NM_003289.4(TPM2):c.374+15C>T rs773380766 0.00019
NM_003334.4(UBA1):c.2733G>A (p.Lys911=) rs149284493 0.00019
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_004380.3(CREBBP):c.5991C>T (p.Pro1997=) rs201101808 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005445.4(SMC3):c.2796A>G (p.Leu932=) rs199966664 0.00019
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_012243.3(SLC35A3):c.599C>G (p.Thr200Arg) rs759966591 0.00019
NM_013352.4(DSE):c.450G>A (p.Pro150=) rs773416085 0.00019
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894 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_022725.4(FANCF):c.21C>T (p.His7=) rs199867555 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.1389A>G (p.Lys463=) rs376668879 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.3583_3585del (p.Ile1195del) rs199897550 0.00019
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val) rs372921011 0.00019
NM_032634.4(PIGO):c.2487G>T (p.Gly829=) rs763623508 0.00019
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn) rs766643057 0.00019
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 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_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_153717.3(EVC):c.617+17A>G rs113726930 0.00019
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu) rs377757018 0.00019
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) rs201304841 0.00019
NM_173660.5(DOK7):c.1320C>T (p.Ala440=) rs368868378 0.00019
NM_001018115.3(FANCD2):c.2142G>A (p.Pro714=) rs372215382 0.00018
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001346754.2(PIGW):c.1080T>C (p.Asn360=) rs138980777 0.00018
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.7177C>G (p.Leu2393Val) rs377508897 0.00018
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=) rs140010759 0.00018
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr) rs144782810 0.00018
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu) rs186224021 0.00018
NM_004629.2(FANCG):c.1144-17T>G rs367794913 0.00018
NM_005105.5(RBM8A):c.342+19T>C rs200836721 0.00018
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_005236.3(ERCC4):c.2018-18C>G rs539818239 0.00018
NM_005445.4(SMC3):c.837A>G (p.Thr279=) rs151335692 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 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_018486.3(HDAC8):c.295+13C>T rs138424378 0.00018
NM_020436.5(SALL4):c.3096T>C (p.Ala1032=) rs370319434 0.00018
NM_032444.4(SLX4):c.2079C>T (p.Val693=) rs150206155 0.00018
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu) rs149362820 0.00018
NM_130468.4(CHST14):c.471G>A (p.Val157=) rs200761477 0.00018
NM_173660.5(DOK7):c.54+31G>T rs762404326 0.00018
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_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397 0.00017
NM_001271938.2(MEGF8):c.5937G>A (p.Arg1979=) rs200310970 0.00017
NM_001374353.1(GLI2):c.132G>A (p.Ala44=) rs145778937 0.00017
NM_001999.4(FBN2):c.1466-4G>A rs371636769 0.00017
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_002334.4(LRP4):c.1310-9G>C rs200509094 0.00017
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys) rs61749460 0.00017
NM_003289.4(TPM2):c.536C>T (p.Ser179Leu) rs150120234 0.00017
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly) rs200541240 0.00017
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_006265.3(RAD21):c.1503T>G (p.Pro501=) rs150935041 0.00017
NM_006306.4(SMC1A):c.2862+20G>A rs374473076 0.00017
NM_013352.4(DSE):c.2727T>C (p.Ile909=) rs199742443 0.00017
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) rs141305214 0.00017
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His) rs148790468 0.00017
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418 0.00017
NM_017617.5(NOTCH1):c.1903+14C>T rs370541870 0.00017
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) rs202023240 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_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032444.4(SLX4):c.1809G>A (p.Ser603=) rs565202250 0.00017
NM_032444.4(SLX4):c.316C>T (p.Pro106Ser) rs534494633 0.00017
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp) rs758789462 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_058216.3(RAD51C):c.258A>T (p.Thr86=) rs149228565 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_133433.4(NIPBL):c.3665-10G>A rs200744764 0.00017
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp) rs148884226 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) rs577156980 0.00017
NM_000079.4(CHRNA1):c.945C>T (p.Val315=) rs371524795 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.2152-20T>A rs200403206 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.3409-9C>G rs368943794 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 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.2715+1G>A rs201811817 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 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_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001113378.2(FANCI):c.882+15G>T rs199522855 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.5559G>A (p.Leu1853=) rs36016565 0.00016
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val) rs142042363 0.00016
NM_001346754.2(PIGW):c.1478T>C (p.Val493Ala) rs144246473 0.00016
NM_001374353.1(GLI2):c.189G>A (p.Pro63=) rs200471311 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_001429.4(EP300):c.2765C>T (p.Ala922Val) rs150389014 0.00016
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.6684G>A (p.Gln2228=) rs148504625 0.00016
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg) rs140300789 0.00016
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170 0.00016
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys) rs371512923 0.00016
NM_002334.4(LRP4):c.695G>A (p.Arg232His) rs370407081 0.00016
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=) rs138153478 0.00016
NM_003289.4(TPM2):c.633G>A (p.Ala211=) rs199758432 0.00016
NM_003289.4(TPM2):c.846C>A (p.Thr282=) rs148516241 0.00016
NM_003334.4(UBA1):c.346-10A>C rs782089237 0.00016
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg) rs146180431 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345 0.00016
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=) rs2020960 0.00016
NM_013352.4(DSE):c.1221T>A (p.Pro407=) rs140103226 0.00016
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) rs138803099 0.00016
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571 0.00016
NM_017617.5(NOTCH1):c.4866C>T (p.Arg1622=) rs772314400 0.00016
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147 0.00016
NM_018062.4(FANCL):c.387G>A (p.Ala129=) rs141400460 0.00016
NM_018062.4(FANCL):c.97-11A>G rs201875132 0.00016
NM_018486.3(HDAC8):c.164+19A>T rs188536186 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_020937.4(FANCM):c.4709G>A (p.Arg1570His) rs201803784 0.00016
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe) rs185230199 0.00016
NM_022725.4(FANCF):c.837A>G (p.Thr279=) rs183269887 0.00016
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=) rs145504336 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) rs201279467 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_032634.4(PIGO):c.1132C>T (p.Leu378Phe) rs746870615 0.00016
NM_032634.4(PIGO):c.656-8C>T rs187058369 0.00016
NM_058216.3(RAD51C):c.744T>C (p.Phe248=) rs150142859 0.00016
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) rs560785308 0.00016
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=) rs371380435 0.00016
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147127.5(EVC2):c.984A>T (p.Gly328=) rs1023236102 0.00016
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00016
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln) rs200675356 0.00016
NM_173660.5(DOK7):c.765C>A (p.Gly255=) rs138215484 0.00016
NM_173660.5(DOK7):c.772+14C>G rs201023802 0.00016
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
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_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) rs138587722 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_001271938.2(MEGF8):c.2987+11del rs755747202 0.00015
NM_001271938.2(MEGF8):c.351+4A>G rs753271808 0.00015
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=) rs371090576 0.00015
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His) rs200080112 0.00015
NM_001374353.1(GLI2):c.845+10G>A rs199673018 0.00015
NM_001429.4(EP300):c.5565A>G (p.Pro1855=) rs150532830 0.00015
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114 0.00015
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212 0.00015
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) rs137882536 0.00015
NM_002334.4(LRP4):c.636C>T (p.Gly212=) rs17848239 0.00015
NM_003289.4(TPM2):c.18G>A (p.Lys6=) rs144658309 0.00015
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=) rs117115765 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=) rs373950003 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_005592.4(MUSK):c.2484C>T (p.Pro828=) rs779401827 0.00015
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00015
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=) rs782367851 0.00015
NM_013352.4(DSE):c.910+20G>A rs376761852 0.00015
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg) rs745978128 0.00015
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_018486.3(HDAC8):c.1111+9C>T rs368139150 0.00015
NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln) rs148688742 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_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=) rs183029626 0.00015
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_000079.4(CHRNA1):c.324A>C (p.Pro108=) rs199555685 0.00014
NM_000079.4(CHRNA1):c.547G>A (p.Asp183Asn) rs145421881 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_000135.4(FANCA):c.3240-11C>G rs138826926 0.00014
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.711C>T (p.Thr237=) rs752356816 0.00014
NM_000751.3(CHRND):c.821-2A>C rs762875734 0.00014
NM_000751.3(CHRND):c.89G>A (p.Arg30Gln) rs142992853 0.00014
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650 0.00014
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247 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_001018115.3(FANCD2):c.571-19A>T rs141566218 0.00014
NM_001113378.2(FANCI):c.882+10A>G rs370227185 0.00014
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu) rs148207079 0.00014
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr) rs373631162 0.00014
NM_001271938.2(MEGF8):c.4752G>C (p.Leu1584=) rs541175277 0.00014
NM_001271938.2(MEGF8):c.5343+9T>G rs374168560 0.00014
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln) rs139601509 0.00014
NM_001278689.2(EOGT):c.591A>G (p.Glu197=) rs576952007 0.00014
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu) rs201051196 0.00014
NM_001374353.1(GLI2):c.9G>A (p.Thr3=) rs199524680 0.00014
NM_001429.4(EP300):c.2916T>C (p.Pro972=) rs142769483 0.00014
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_001429.4(EP300):c.5361C>T (p.Ala1787=) rs200552141 0.00014
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_001999.4(FBN2):c.7841-17C>T rs371643668 0.00014
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile) rs143885233 0.00014
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.4584-5C>T rs183295145 0.00014
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu) rs147609642 0.00014
NM_002334.4(LRP4):c.605G>A (p.Arg202His) rs149056824 0.00014
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro) rs748747684 0.00014
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe) rs200346970 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00014
NM_004629.2(FANCG):c.399G>A (p.Pro133=) rs200278002 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_005055.5(RAPSN):c.225G>A (p.Glu75=) rs147923114 0.00014
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_005236.3(ERCC4):c.471A>G (p.Lys157=) rs3136092 0.00014
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_005592.4(MUSK):c.1885C>T (p.Leu629Phe) rs34267283 0.00014
NM_005592.4(MUSK):c.206+10C>T rs371617202 0.00014
NM_005592.4(MUSK):c.680C>A (p.Ser227Tyr) rs374657556 0.00014
NM_005592.4(MUSK):c.776A>G (p.Glu259Gly) rs370071178 0.00014
NM_006306.4(SMC1A):c.1337+9C>T rs376455825 0.00014
NM_012243.3(SLC35A3):c.187+13G>A rs373777045 0.00014
NM_013352.4(DSE):c.240C>T (p.Ser80=) rs143347973 0.00014
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) rs74040399 0.00014
NM_014918.5(CHSY1):c.798G>A (p.Gln266=) rs149739984 0.00014
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678 0.00014
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00014
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307 0.00014
NM_017617.5(NOTCH1):c.3901+12G>A rs367600561 0.00014
NM_017617.5(NOTCH1):c.45C>G (p.Pro15=) rs764936481 0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074 0.00014
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu) rs761345476 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 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.30G>A (p.Gln10=) rs145745979 0.00014
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) rs143152888 0.00014
NM_020937.4(FANCM):c.5341-19G>A rs375732305 0.00014
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 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_032634.4(PIGO):c.939+12G>C rs370844887 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_130468.4(CHST14):c.765C>T (p.Gly255=) rs148053059 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00014
NM_153717.3(EVC):c.702+17G>T rs559719173 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_173660.5(DOK7):c.1233T>C (p.Leu411=) rs539706052 0.00014
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val) rs768878508 0.00013
NM_000079.4(CHRNA1):c.1333G>A (p.Val445Met) rs372104868 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_000751.3(CHRND):c.199-19C>T rs145984749 0.00013
NM_000751.3(CHRND):c.305G>A (p.Arg102His) rs147919651 0.00013
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395 0.00013
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 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_001271938.2(MEGF8):c.1933+10C>T rs763206386 0.00013
NM_001271938.2(MEGF8):c.3310C>T (p.Arg1104Trp) rs370522595 0.00013
NM_001271938.2(MEGF8):c.351+10G>A rs374212597 0.00013
NM_001346754.2(PIGW):c.909C>T (p.Arg303=) rs199843214 0.00013
NM_001374353.1(GLI2):c.1497C>A (p.Arg499=) rs542656225 0.00013
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) rs143914758 0.00013
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743 0.00013
NM_001374353.1(GLI2):c.563C>T (p.Ala188Val) rs147419287 0.00013
NM_001429.4(EP300):c.1539T>C (p.Pro513=) rs377140865 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_001429.4(EP300):c.2242-14T>G rs760859922 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003334.4(UBA1):c.1149C>T (p.Ile383=) rs782140742 0.00013
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895 0.00013
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_004629.2(FANCG):c.1367A>T (p.His456Leu) rs148808709 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_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_005592.4(MUSK):c.1806T>G (p.Pro602=) rs374078491 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.2326G>A (p.Val776Met) rs377286829 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) rs547223696 0.00013
NM_020937.4(FANCM):c.3432C>T (p.Phe1144=) rs374047969 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.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg) rs148638909 0.00013
NM_021922.3(FANCE):c.903G>C (p.Gly301=) rs781287698 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032444.4(SLX4):c.2226C>T (p.Asp742=) rs376261173 0.00013
NM_032634.4(PIGO):c.1309G>A (p.Ala437Thr) rs371896003 0.00013
NM_032634.4(PIGO):c.1891T>G (p.Cys631Gly) rs371800398 0.00013
NM_032634.4(PIGO):c.2188C>G (p.Pro730Ala) rs747418653 0.00013
NM_032634.4(PIGO):c.253C>A (p.Pro85Thr) rs745754359 0.00013
NM_032634.4(PIGO):c.3070-12C>G rs199864376 0.00013
NM_032634.4(PIGO):c.676G>A (p.Val226Met) rs767554501 0.00013
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro) rs866817984 0.00013
NM_130468.4(CHST14):c.796T>C (p.Tyr266His) rs377155775 0.00013
NM_133433.4(NIPBL):c.1321A>G (p.Thr441Ala) rs144853101 0.00013
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_147127.5(EVC2):c.284-17G>A rs201654752 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met) rs373864257 0.00013
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser) rs148650015 0.00013
NM_173660.5(DOK7):c.752C>T (p.Ala251Val) rs376251309 0.00013
NM_000079.4(CHRNA1):c.320G>A (p.Arg107His) rs376844505 0.00012
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) rs550821697 0.00012
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000751.3(CHRND):c.626G>A (p.Gly209Glu) rs754652646 0.00012
NM_001018115.3(FANCD2):c.378-4A>G rs75087355 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.*1313A>G rs368376237 0.00012
NM_001113525.2(ZNF276):c.*471G>C rs368506826 0.00012
NM_001271938.2(MEGF8):c.7047C>T (p.Ala2349=) rs369359832 0.00012
NM_001374353.1(GLI2):c.2886G>A (p.Leu962=) rs777165274 0.00012
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg) rs772707021 0.00012
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_001429.4(EP300):c.448T>C (p.Ser150Pro) rs138241570 0.00012
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850 0.00012
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_001999.4(FBN2):c.7594+12G>A rs184678810 0.00012
NM_001999.4(FBN2):c.8192+8G>A rs184132548 0.00012
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_003334.4(UBA1):c.2842T>G (p.Tyr948Asp) rs781929195 0.00012
NM_003334.4(UBA1):c.2979C>T (p.Gly993=) rs145283250 0.00012
NM_003334.4(UBA1):c.753A>G (p.Ser251=) rs141505579 0.00012
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_006306.4(SMC1A):c.861G>A (p.Lys287=) rs782543093 0.00012
NM_017617.5(NOTCH1):c.1099+20G>A rs376139196 0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543 0.00012
NM_017617.5(NOTCH1):c.5472+9C>T rs200788026 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230 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_023110.3(FGFR1):c.2186+8C>T rs372639138 0.00012
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 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_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_147127.5(EVC2):c.450+17A>G rs370958428 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_153717.3(EVC):c.2583G>A (p.Arg861=) rs145317746 0.00012
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000079.4(CHRNA1):c.189+18G>A rs201082834 0.00011
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) rs141733086 0.00011
NM_000135.4(FANCA):c.105T>C (p.Tyr35=) rs747928827 0.00011
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) rs766580461 0.00011
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 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_000135.4(FANCA):c.3168C>T (p.Leu1056=) rs377633991 0.00011
NM_000135.4(FANCA):c.709+20C>T rs368328886 0.00011
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.1534-9T>C rs536836859 0.00011
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000751.3(CHRND):c.620-7C>T rs532055784 0.00011
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg) rs1039845680 0.00011
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=) rs567952571 0.00011
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys) rs200910137 0.00011
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=) rs750232469 0.00011
NM_001271938.2(MEGF8):c.4662G>A (p.Ala1554=) rs759312023 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_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 0.00011
NM_001278689.2(EOGT):c.300C>T (p.Val100=) rs371677485 0.00011
NM_001278689.2(EOGT):c.305T>C (p.Met102Thr) rs201325214 0.00011
NM_001278689.2(EOGT):c.816C>T (p.Ile272=) rs554241529 0.00011
NM_001374353.1(GLI2):c.1587C>T (p.Asn529=) rs767400136 0.00011
NM_001374353.1(GLI2):c.2458G>A (p.Glu820Lys) rs193090538 0.00011
NM_001374353.1(GLI2):c.3434A>G (p.Lys1145Arg) rs190017682 0.00011
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.2352G>A (p.Pro784=) rs140684440 0.00011
NM_001429.4(EP300):c.3502-13G>A rs547213630 0.00011
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644 0.00011
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001429.4(EP300):c.5461C>A (p.Arg1821=) rs780579609 0.00011
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.1850-14A>G rs201359451 0.00011
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419 0.00011
NM_001999.4(FBN2):c.2989+20G>A rs374450061 0.00011
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_002334.4(LRP4):c.2763C>T (p.Asp921=) rs532977473 0.00011
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg) rs193247849 0.00011
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=) rs372105627 0.00011
NM_002334.4(LRP4):c.788G>A (p.Arg263His) rs149906323 0.00011
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) rs199701845 0.00011
NM_003334.4(UBA1):c.812-4G>A rs372842152 0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005236.3(ERCC4):c.389-9C>A rs369626998 0.00011
NM_005236.3(ERCC4):c.793-13A>T rs201159142 0.00011
NM_005445.4(SMC3):c.1416G>A (p.Leu472=) rs753327472 0.00011
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val) rs191581729 0.00011
NM_005592.4(MUSK):c.198T>C (p.Ile66=) rs567402281 0.00011
NM_006265.3(RAD21):c.159A>G (p.Leu53=) rs186566723 0.00011
NM_013352.4(DSE):c.1383T>A (p.Ala461=) rs200485959 0.00011
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) rs371043332 0.00011
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) rs146336077 0.00011
NM_013352.4(DSE):c.516A>G (p.Thr172=) rs200780195 0.00011
NM_013352.4(DSE):c.645G>A (p.Thr215=) rs370613241 0.00011
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser) rs752265345 0.00011
NM_014918.5(CHSY1):c.843C>T (p.Tyr281=) rs181121069 0.00011
NM_014918.5(CHSY1):c.973T>A (p.Ser325Thr) rs765848875 0.00011
NM_017617.5(NOTCH1):c.1116C>G (p.Leu372=) rs372623058 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_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) rs370797169 0.00011
NM_017617.5(NOTCH1):c.4015-10T>C rs989085577 0.00011
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser) rs369467132 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.5301C>T (p.Leu1767=) rs372154581 0.00011
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00011
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00011
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242 0.00011
NM_018062.4(FANCL):c.1020+15T>C rs201733792 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_020436.5(SALL4):c.1020C>T (p.Gly340=) rs142790611 0.00011
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) rs146604877 0.00011
NM_020937.4(FANCM):c.1812C>T (p.Asn604=) rs377473850 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_020937.4(FANCM):c.5901T>C (p.Ser1967=) rs375558533 0.00011
NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met) rs139343255 0.00011
NM_020937.4(FANCM):c.954G>A (p.Arg318=) rs763895177 0.00011
NM_022725.4(FANCF):c.1054T>C (p.Leu352=) rs61752917 0.00011
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn) rs562958780 0.00011
NM_023110.3(FGFR1):c.92-13G>A rs373032952 0.00011
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=) rs139701369 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032444.4(SLX4):c.1925-13A>T rs201324113 0.00011
NM_032444.4(SLX4):c.2053G>A (p.Val685Ile) rs371002922 0.00011
NM_032444.4(SLX4):c.2160+8C>T rs374004875 0.00011
NM_032444.4(SLX4):c.2241C>T (p.Ala747=) rs143790956 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.2958C>G (p.Leu986=) rs148111699 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_032444.4(SLX4):c.921C>T (p.Asn307=) rs370468973 0.00011
NM_032634.4(PIGO):c.2025G>A (p.Ala675=) rs368209276 0.00011
NM_032634.4(PIGO):c.675C>T (p.Asp225=) rs200656082 0.00011
NM_133433.4(NIPBL):c.2352A>G (p.Gln784=) rs61755038 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=) rs141545751 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.3858C>T (p.His1286=) rs368103321 0.00011
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 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_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_153717.3(EVC):c.540G>A (p.Ser180=) rs200120462 0.00011
NM_153717.3(EVC):c.690G>A (p.Gln230=) rs563481672 0.00011
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_173660.5(DOK7):c.1406C>A (p.Pro469His) rs147185207 0.00011
NM_173660.5(DOK7):c.1434C>T (p.Gly478=) rs781007084 0.00011
NM_173660.5(DOK7):c.189C>T (p.Cys63=) rs372989037 0.00011
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln) rs576215366 0.00011
NM_173660.5(DOK7):c.931A>G (p.Met311Val) rs752949999 0.00011
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu) rs546889092 0.00011
NM_000079.4(CHRNA1):c.190-18C>T rs769989280 0.00010
NM_000079.4(CHRNA1):c.546C>T (p.Ser182=) rs749002411 0.00010
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 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_000135.4(FANCA):c.3348+12G>A rs374973869 0.00010
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691 0.00010
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032 0.00010
NM_000135.4(FANCA):c.634A>C (p.Arg212=) rs754839730 0.00010
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238 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_000751.3(CHRND):c.1048-7G>T rs369026633 0.00010
NM_000751.3(CHRND):c.1125G>A (p.Val375=) rs143246852 0.00010
NM_000751.3(CHRND):c.128G>A (p.Arg43Gln) rs759448201 0.00010
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001018113.3(FANCB):c.801A>C (p.Ser267=) rs773005941 0.00010
NM_001018115.3(FANCD2):c.165A>G (p.Ser55=) rs543455922 0.00010
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=) rs200118565 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_001271938.2(MEGF8):c.6469G>A (p.Gly2157Ser) rs549617171 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_001374353.1(GLI2):c.1260C>T (p.Thr420=) rs200497671 0.00010
NM_001374353.1(GLI2):c.1760A>C (p.His587Pro) rs756664261 0.00010
NM_001374353.1(GLI2):c.845+14G>A rs370294059 0.00010
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro) rs577396026 0.00010
NM_001429.4(EP300):c.2925A>G (p.Glu975=) rs75752076 0.00010
NM_001429.4(EP300):c.3143-7T>G rs778277906 0.00010
NM_001429.4(EP300):c.5454G>C (p.Leu1818=) rs148026063 0.00010
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) rs138584705 0.00010
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00010
NM_001429.4(EP300):c.7167C>T (p.Ser2389=) rs150845823 0.00010
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230 0.00010
NM_001999.4(FBN2):c.2249-15C>A rs759195113 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110 0.00010
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_001999.4(FBN2):c.3472+17C>A rs747730357 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109 0.00010
NM_001999.4(FBN2):c.8193-6A>G rs371741283 0.00010
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203 0.00010
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=) rs184109554 0.00010
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) rs146660159 0.00010
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) rs146372809 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp) rs139130383 0.00010
NM_003334.4(UBA1):c.1482C>T (p.Cys494=) rs782484295 0.00010
NM_003334.4(UBA1):c.2003+12G>A rs373695438 0.00010
NM_003334.4(UBA1):c.388G>C (p.Val130Leu) rs782523969 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 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_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 0.00010
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=) rs139525851 0.00010
NM_005055.5(RAPSN):c.640G>A (p.Val214Met) rs201124957 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_005055.5(RAPSN):c.864G>A (p.Ala288=) rs147966227 0.00010
NM_005236.3(ERCC4):c.1102+13G>T rs199772721 0.00010
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met) rs200064775 0.00010
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr) rs776201930 0.00010
NM_006147.4(IRF6):c.668-4G>T rs376679285 0.00010
NM_006265.3(RAD21):c.645T>C (p.Tyr215=) rs143910582 0.00010
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=) rs370315911 0.00010
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_016277.5(RAB23):c.675G>A (p.Lys225=) rs781622209 0.00010
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) rs748048002 0.00010
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.1698C>T (p.Asp566=) rs541992446 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.2740+14C>T rs375880798 0.00010
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=) rs536479643 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=) rs747236263 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.5631C>T (p.Arg1877=) rs35627681 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493 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_018062.4(FANCL):c.846A>G (p.Gln282=) rs535158133 0.00010
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu) rs138201476 0.00010
NM_020937.4(FANCM):c.2760G>A (p.Pro920=) rs145506906 0.00010
NM_020937.4(FANCM):c.2889C>T (p.Phe963=) rs544323144 0.00010
NM_021922.3(FANCE):c.59C>T (p.Ala20Val) rs927154227 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.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032444.4(SLX4):c.1563T>C (p.Pro521=) rs146360238 0.00010
NM_032444.4(SLX4):c.1602C>T (p.Ser534=) rs201754095 0.00010
NM_032444.4(SLX4):c.1911G>T (p.Ser637=) rs200013924 0.00010
NM_032444.4(SLX4):c.3438C>T (p.Asn1146=) rs78541095 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_032634.4(PIGO):c.394A>G (p.Met132Val) rs772678647 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro) rs762133798 0.00010
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp) rs577809616 0.00010
NM_133433.4(NIPBL):c.4776+12G>A rs199632698 0.00010
NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=) rs201036501 0.00010
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 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_173660.5(DOK7):c.1354C>T (p.Arg452Trp) rs375116985 0.00010
NM_173660.5(DOK7):c.1470G>A (p.Ser490=) rs543344505 0.00010
NM_173660.5(DOK7):c.332-13C>T rs778628534 0.00010
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu) rs560882592 0.00010
NM_000079.4(CHRNA1):c.372G>A (p.Lys124=) rs143047599 0.00009
NM_000079.4(CHRNA1):c.657G>C (p.Leu219=) rs375856493 0.00009
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875 0.00009
NM_000135.4(FANCA):c.1567-6C>T rs377706883 0.00009
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly) rs753980264 0.00009
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.189+12C>G rs753101174 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 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.2376T>C (p.Gly792=) rs756138062 0.00009
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.3239+20G>C rs755548646 0.00009
NM_000135.4(FANCA):c.3348+11C>T rs367624518 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 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.1073-5C>T rs375613884 0.00009
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 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_000474.4(TWIST1):c.330G>A (p.Arg110=) rs199932465 0.00009
NM_000751.3(CHRND):c.198+7G>A rs372767822 0.00009
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086 0.00009
NM_000751.3(CHRND):c.705C>T (p.Asp235=) rs145634347 0.00009
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu) rs370248837 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys) rs201281219 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.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=) rs780547790 0.00009
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 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_001271938.2(MEGF8):c.1572C>T (p.Ser524=) rs375943387 0.00009
NM_001271938.2(MEGF8):c.2436G>A (p.Ser812=) rs199938628 0.00009
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg) rs147068787 0.00009
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=) rs757551016 0.00009
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp) rs200195292 0.00009
NM_001271938.2(MEGF8):c.7407G>A (p.Ala2469=) rs111595088 0.00009
NM_001271938.2(MEGF8):c.8169C>T (p.Pro2723=) rs138179740 0.00009
NM_001278689.2(EOGT):c.421-7C>T rs770810315 0.00009
NM_001346754.2(PIGW):c.1293C>T (p.Ala431=) rs138225253 0.00009
NM_001346754.2(PIGW):c.491C>T (p.Thr164Ile) rs543242274 0.00009
NM_001346754.2(PIGW):c.874A>G (p.Ser292Gly) rs148837720 0.00009
NM_001374353.1(GLI2):c.1577C>G (p.Ala526Gly) rs201279367 0.00009
NM_001374353.1(GLI2):c.252C>T (p.His84=) rs201412339 0.00009
NM_001374353.1(GLI2):c.321G>A (p.Pro107=) rs578011257 0.00009
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys) rs770936696 0.00009
NM_001374353.1(GLI2):c.78C>T (p.Pro26=) rs373668718 0.00009
NM_001429.4(EP300):c.1443G>A (p.Pro481=) rs374768898 0.00009
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val) rs144933639 0.00009
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_001999.4(FBN2):c.5549-18G>A rs371995872 0.00009
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=) rs756747736 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=) rs190292877 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) rs200623154 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2092+17C>T rs200761003 0.00009
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) rs140757594 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) rs370091369 0.00009
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) rs141565454 0.00009
NM_002334.4(LRP4):c.3537-13C>A rs752687926 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=) rs376909913 0.00009
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln) rs146864522 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys) rs200465829 0.00009
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val) rs578198178 0.00009
NM_003289.4(TPM2):c.773-19C>T rs111370399 0.00009
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn) rs200629777 0.00009
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp) rs185589110 0.00009
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=) rs201062642 0.00009
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=) rs377023934 0.00009
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=) rs772392148 0.00009
NM_004380.3(CREBBP):c.6324C>T (p.Tyr2108=) rs199821421 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 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_004629.2(FANCG):c.375C>G (p.Val125=) rs199754122 0.00009
NM_004629.2(FANCG):c.646+15T>C rs551775705 0.00009
NM_004629.2(FANCG):c.647-16C>A rs200107462 0.00009
NM_005055.5(RAPSN):c.1166+13G>C rs745720985 0.00009
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys) rs367565995 0.00009
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=) rs376695854 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.1860C>G (p.Leu620=) rs758451676 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 0.00009
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 0.00009
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) rs373408411 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005445.4(SMC3):c.810C>T (p.Ile270=) rs148729748 0.00009
NM_005445.4(SMC3):c.970-14T>C rs200511874 0.00009
NM_005592.4(MUSK):c.1689C>G (p.Pro563=) rs376052538 0.00009
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg) rs768074747 0.00009
NM_005592.4(MUSK):c.2532A>G (p.Ala844=) rs193214210 0.00009
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_006147.4(IRF6):c.711C>T (p.Tyr237=) rs201940391 0.00009
NM_006147.4(IRF6):c.9C>T (p.Leu3=) rs78599614 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_006265.3(RAD21):c.450G>A (p.Gly150=) rs188711205 0.00009
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978 0.00009
NM_013352.4(DSE):c.2601C>T (p.Tyr867=) rs535021192 0.00009
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser) rs376771433 0.00009
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) rs147451395 0.00009
NM_014918.5(CHSY1):c.1893C>T (p.Asp631=) rs368276647 0.00009
NM_014918.5(CHSY1):c.320+6C>T rs553473414 0.00009
NM_014918.5(CHSY1):c.519C>T (p.Asp173=) rs143062356 0.00009
NM_014918.5(CHSY1):c.539G>A (p.Arg180His) rs770812991 0.00009
NM_016277.5(RAB23):c.594T>G (p.Gly198=) rs151203723 0.00009
NM_017617.5(NOTCH1):c.1904-13G>A rs371069516 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.3966C>T (p.Cys1322=) rs753290862 0.00009
NM_017617.5(NOTCH1):c.403+17A>T rs544324440 0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) rs78857347 0.00009
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636 0.00009
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) rs757256477 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212 0.00009
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930 0.00009
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144 0.00009
NM_018062.4(FANCL):c.217-4C>A rs369048526 0.00009
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg) rs147689487 0.00009
NM_020937.4(FANCM):c.1396+10A>G rs371211104 0.00009
NM_020937.4(FANCM):c.1668T>C (p.Asp556=) rs142380037 0.00009
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 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_021922.3(FANCE):c.856-5C>T rs749252957 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.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.69G>A (p.Pro23=) rs369704492 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 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.1223G>A (p.Arg408Gln) rs377135500 0.00009
NM_032444.4(SLX4):c.1641G>A (p.Thr547=) rs200497436 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.4151T>C (p.Leu1384Pro) rs553317304 0.00009
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu) rs72778139 0.00009
NM_032634.4(PIGO):c.2287G>T (p.Val763Leu) rs146576650 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_130468.4(CHST14):c.32C>T (p.Ala11Val) rs1030815676 0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_133433.4(NIPBL):c.1263G>A (p.Ser421=) rs777731868 0.00009
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00009
NM_133433.4(NIPBL):c.458+7T>C rs200829209 0.00009
NM_147127.5(EVC2):c.129C>T (p.Gly43=) rs985034372 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.3558-6C>T rs527866261 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.817-17C>A rs371482683 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.759A>G (p.Ser253=) rs201105095 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys) rs560463670 0.00009
NM_173660.5(DOK7):c.1290G>A (p.Ala430=) rs538047872 0.00009
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp) rs767909551 0.00009
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys) rs750262940 0.00009
NM_173660.5(DOK7):c.480C>T (p.Tyr160=) rs550024569 0.00009
NM_173660.5(DOK7):c.561C>T (p.Ala187=) rs140026458 0.00009
NM_173660.5(DOK7):c.597C>T (p.Ile199=) rs771302576 0.00009
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp) rs139573161 0.00009
NM_173660.5(DOK7):c.932T>C (p.Met311Thr) rs763124567 0.00009
NM_000079.4(CHRNA1):c.525C>T (p.Val175=) rs186421442 0.00008
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 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.3734A>G (p.Gln1245Arg) rs542032916 0.00008
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=) rs17227389 0.00008
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507 0.00008
NM_000135.4(FANCA):c.709+9A>G rs371624767 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_000751.3(CHRND):c.1531G>A (p.Val511Met) rs759384601 0.00008
NM_000751.3(CHRND):c.360C>T (p.Asp120=) rs764641517 0.00008
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000751.3(CHRND):c.53-16C>T rs776242631 0.00008
NM_001018113.3(FANCB):c.1077A>T (p.Ile359=) rs191379403 0.00008
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015 0.00008
NM_001018115.3(FANCD2):c.2269+15C>T rs374096957 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.439-18C>A rs184060118 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_001113525.2(ZNF276):c.*1224G>A rs763049986 0.00008
NM_001271938.2(MEGF8):c.2919C>T (p.His973=) rs766105588 0.00008
NM_001271938.2(MEGF8):c.3456G>A (p.Pro1152=) rs200838638 0.00008
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile) rs77422116 0.00008
NM_001271938.2(MEGF8):c.6909C>T (p.His2303=) rs552181649 0.00008
NM_001346754.2(PIGW):c.1438G>A (p.Val480Ile) rs758231021 0.00008
NM_001346754.2(PIGW):c.570T>C (p.Tyr190=) rs371568140 0.00008
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu) rs759061834 0.00008
NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg) rs780303555 0.00008
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro) rs200499648 0.00008
NM_001429.4(EP300):c.45G>A (p.Arg15=) rs752119517 0.00008
NM_001429.4(EP300):c.5967G>A (p.Met1989Ile) rs763795718 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 0.00008
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367 0.00008
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=) rs367620361 0.00008
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=) rs150305429 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501 0.00008
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile) rs142660660 0.00008
NM_002334.4(LRP4):c.282C>T (p.Asn94=) rs17848224 0.00008
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser) rs371961330 0.00008
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) rs774275092 0.00008
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_003334.4(UBA1):c.1156C>T (p.Leu386=) rs782722368 0.00008
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg) rs373305404 0.00008
NM_003334.4(UBA1):c.1665C>T (p.Asp555=) rs376109672 0.00008
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr) rs371005753 0.00008
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly) rs782120956 0.00008
NM_003334.4(UBA1):c.679-16C>T rs200690232 0.00008
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_004380.3(CREBBP):c.4560+9C>T rs201631062 0.00008
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys) rs150207592 0.00008
NM_005055.5(RAPSN):c.790-5T>C rs369823690 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.714G>A (p.Lys238=) rs780166871 0.00008
NM_005592.4(MUSK):c.1778+13A>G rs371275445 0.00008
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg) rs201291910 0.00008
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr) rs199507468 0.00008
NM_006147.4(IRF6):c.380-4G>A rs373381488 0.00008
NM_006265.3(RAD21):c.1471-16T>C rs202211817 0.00008
NM_006265.3(RAD21):c.582G>A (p.Glu194=) rs201468757 0.00008
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=) rs782123095 0.00008
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320 0.00008
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) rs181711422 0.00008
NM_013352.4(DSE):c.1860C>T (p.Asp620=) rs376227527 0.00008
NM_014918.5(CHSY1):c.135C>T (p.Pro45=) rs921119348 0.00008
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433 0.00008
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179 0.00008
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379 0.00008
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547 0.00008
NM_017617.5(NOTCH1):c.3519C>T (p.Ala1173=) rs765576108 0.00008
NM_017617.5(NOTCH1):c.3768G>A (p.Pro1256=) rs779987984 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.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=) rs377685034 0.00008
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) rs773981674 0.00008
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267 0.00008
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_018062.4(FANCL):c.1124A>C (p.His375Pro) rs545084971 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_018486.3(HDAC8):c.384C>T (p.Asp128=) rs1250641302 0.00008
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020937.4(FANCM):c.1309+5G>T rs370363591 0.00008
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=) rs574509639 0.00008
NM_020937.4(FANCM):c.4222+18dup rs760075544 0.00008
NM_020937.4(FANCM):c.4223-4A>G rs191128410 0.00008
NM_020937.4(FANCM):c.4318-1G>A rs752228025 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.4716A>G (p.Pro1572=) rs953261541 0.00008
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175 0.00008
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg) rs200083899 0.00008
NM_021922.3(FANCE):c.1464C>T (p.Ala488=) rs779775366 0.00008
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr) rs372625322 0.00008
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu) rs200416138 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) rs561300213 0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=) rs552562422 0.00008
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His) rs574214196 0.00008
NM_032444.4(SLX4):c.4572C>T (p.Thr1524=) rs144666372 0.00008
NM_032444.4(SLX4):c.4665C>T (p.Pro1555=) rs749018784 0.00008
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met) rs543847606 0.00008
NM_032444.4(SLX4):c.5153+17G>A rs768122851 0.00008
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739 0.00008
NM_032444.4(SLX4):c.630A>G (p.Leu210=) rs746155183 0.00008
NM_032634.4(PIGO):c.2024C>T (p.Ala675Val) rs567641477 0.00008
NM_032634.4(PIGO):c.2169G>A (p.Ser723=) rs780502790 0.00008
NM_130468.4(CHST14):c.151G>C (p.Val51Leu) rs199749498 0.00008
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_133433.4(NIPBL):c.6590-9C>T rs201043922 0.00008
NM_147127.5(EVC2):c.1041G>A (p.Pro347=) rs778170817 0.00008
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.2250G>A (p.Glu750=) rs552887116 0.00008
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.3558-8G>A rs775806827 0.00008
NM_147127.5(EVC2):c.520-6C>T rs747479747 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_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_173660.5(DOK7):c.1084G>A (p.Val362Met) rs760157322 0.00008
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg) rs200593935 0.00008
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly) rs769974159 0.00008
NM_173660.5(DOK7):c.213C>T (p.Tyr71=) rs760236131 0.00008
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys) rs770653049 0.00008
NM_173660.5(DOK7):c.54+13C>T rs912327595 0.00008
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys) rs202077864 0.00008
NM_173660.5(DOK7):c.772+8C>T rs199769286 0.00008
NM_173660.5(DOK7):c.804A>G (p.Ser268=) rs781113489 0.00008
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) rs374093236 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.1332G>A (p.Ala444=) rs377705748 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.2505-18T>C rs750140062 0.00007
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523 0.00007
NM_000135.4(FANCA):c.2820A>G (p.Gln940=) rs776686639 0.00007
NM_000135.4(FANCA):c.2981+4dup rs75004096 0.00007
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) rs757175768 0.00007
NM_000135.4(FANCA):c.303A>G (p.Gln101=) rs199552612 0.00007
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro) rs556235245 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.3615G>A (p.Gln1205=) rs368349576 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_000135.4(FANCA):c.918G>A (p.Thr306=) rs199634699 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397 0.00007
NM_000136.3(FANCC):c.345+6A>T rs368595927 0.00007
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719 0.00007
NM_000751.3(CHRND):c.1035G>A (p.Glu345=) rs548168819 0.00007
NM_000751.3(CHRND):c.1126C>T (p.Arg376Trp) rs368819172 0.00007
NM_000751.3(CHRND):c.620-8G>A rs377074477 0.00007
NM_000751.3(CHRND):c.892C>T (p.Arg298Cys) rs377455260 0.00007
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=) rs752268889 0.00007
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001018115.3(FANCD2):c.3642T>A (p.Ser1214=) rs538250317 0.00007
NM_001018115.3(FANCD2):c.3964-19A>G rs200544843 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_001271938.2(MEGF8):c.2856-4C>G rs749739307 0.00007
NM_001271938.2(MEGF8):c.3761+19C>A rs371147358 0.00007
NM_001271938.2(MEGF8):c.3846C>T (p.Val1282=) rs142473307 0.00007
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser) rs370106282 0.00007
NM_001271938.2(MEGF8):c.5382G>A (p.Gly1794=) rs905021679 0.00007
NM_001271938.2(MEGF8):c.6426G>A (p.Gly2142=) rs772127120 0.00007
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys) rs143643113 0.00007
NM_001346754.2(PIGW):c.798C>T (p.Leu266=) rs368650542 0.00007
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met) rs571690193 0.00007
NM_001374353.1(GLI2):c.1875C>T (p.His625=) rs372341303 0.00007
NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=) rs773098021 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_001429.4(EP300):c.2245A>G (p.Met749Val) rs370478867 0.00007
NM_001429.4(EP300):c.5832C>T (p.His1944=) rs142885571 0.00007
NM_001429.4(EP300):c.6406A>G (p.Met2136Val) rs372874467 0.00007
NM_001999.4(FBN2):c.2096-19G>A rs369377429 0.00007
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala) rs367614052 0.00007
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=) rs772465221 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.6512-7A>G rs201462445 0.00007
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=) rs765452930 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp) rs140528156 0.00007
NM_002334.4(LRP4):c.3277+5G>T rs374900441 0.00007
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) rs138238230 0.00007
NM_002334.4(LRP4):c.660A>G (p.Ser220=) rs200129866 0.00007
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) rs143637930 0.00007
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu) rs781842141 0.00007
NM_003334.4(UBA1):c.253G>A (p.Val85Met) rs782796398 0.00007
NM_003334.4(UBA1):c.720C>T (p.His240=) rs193168226 0.00007
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3301C>T (p.Leu1101=) rs766505219 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004380.3(CREBBP):c.5172+19C>G rs371471977 0.00007
NM_004380.3(CREBBP):c.5922G>A (p.Arg1974=) rs202099897 0.00007
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=) rs746868061 0.00007
NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=) rs773968231 0.00007
NM_004380.3(CREBBP):c.7197C>T (p.His2399=) rs375864984 0.00007
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys) rs201153812 0.00007
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp) rs201796294 0.00007
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_005105.5(RBM8A):c.265A>G (p.Ile89Val) rs201156815 0.00007
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 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.2265C>T (p.Pro755=) rs555317161 0.00007
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00007
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp) rs558259191 0.00007
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=) rs1392864809 0.00007
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00007
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=) rs782574044 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_006306.4(SMC1A):c.764G>A (p.Arg255His) rs782606119 0.00007
NM_013352.4(DSE):c.1005T>A (p.Arg335=) rs375802351 0.00007
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr) rs150311697 0.00007
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) rs587778558 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362 0.00007
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.3901+19C>T rs373752718 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728 0.00007
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=) rs541372272 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_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_018486.3(HDAC8):c.169G>A (p.Val57Ile) rs200737947 0.00007
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 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.2703A>G (p.Ser901=) rs781066677 0.00007
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe) rs773837264 0.00007
NM_020937.4(FANCM):c.2997G>A (p.Pro999=) rs141430587 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_020937.4(FANCM):c.93A>G (p.Arg31=) rs112641528 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_022725.4(FANCF):c.617C>T (p.Ala206Val) rs756213451 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_023110.3(FGFR1):c.359-13C>G rs376369060 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_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys) rs371185409 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 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.1701C>T (p.Pro567=) rs776750571 0.00007
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 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.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp) rs199656607 0.00007
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=) rs3810814 0.00007
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr) rs370663234 0.00007
NM_032444.4(SLX4):c.3861G>A (p.Val1287=) rs756446820 0.00007
NM_032444.4(SLX4):c.4149C>T (p.Phe1383=) rs983816841 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys) rs765485426 0.00007
NM_032444.4(SLX4):c.4869G>A (p.Ala1623=) rs372206872 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_032444.4(SLX4):c.950+19G>A rs765606980 0.00007
NM_032634.4(PIGO):c.1320C>T (p.Ile440=) rs780469801 0.00007
NM_032634.4(PIGO):c.257A>G (p.Gln86Arg) rs112670103 0.00007
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_058216.3(RAD51C):c.769C>G (p.Leu257Val) rs750551012 0.00007
NM_133433.4(NIPBL):c.1981T>C (p.Cys661Arg) rs746789978 0.00007
NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile) rs372162252 0.00007
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 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.2202C>T (p.Asp734=) rs199788223 0.00007
NM_147127.5(EVC2):c.2613C>T (p.Ile871=) rs759358405 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=) rs749901674 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu) rs200015934 0.00007
NM_173660.5(DOK7):c.297G>A (p.Ala99=) rs201351460 0.00007
NM_173660.5(DOK7):c.903A>C (p.Pro301=) rs145040126 0.00007
NM_000079.4(CHRNA1):c.1199A>G (p.Lys400Arg) rs137916282 0.00006
NM_000079.4(CHRNA1):c.1242+10G>A rs758078454 0.00006
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000079.4(CHRNA1):c.541-15del rs748211851 0.00006
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys) rs368979094 0.00006
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile) rs200102479 0.00006
NM_000079.4(CHRNA1):c.927C>A (p.Ile309=) rs758834482 0.00006
NM_000079.4(CHRNA1):c.955C>T (p.His319Tyr) rs150110639 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.1734C>T (p.Tyr578=) rs762647468 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.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.2778+83C>T rs750997715 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.3066+16C>T rs199529426 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.3279C>T (p.Ser1093=) rs575863400 0.00006
NM_000135.4(FANCA):c.3348+17C>T rs192934767 0.00006
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.3626+16G>A rs375826280 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.4226G>A (p.Arg1409Gln) rs370507983 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.537T>G (p.Leu179=) rs749811331 0.00006
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00006
NM_000135.4(FANCA):c.710-9G>A rs772864817 0.00006
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000136.3(FANCC):c.-65C>T rs371725430 0.00006
NM_000136.3(FANCC):c.1155-13G>T rs747142087 0.00006
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939 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_000474.4(TWIST1):c.152G>T (p.Gly51Val) rs1305059157 0.00006
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000751.3(CHRND):c.1476C>T (p.Gly492=) rs748744922 0.00006
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile) rs567130034 0.00006
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) rs146905561 0.00006
NM_000751.3(CHRND):c.415G>A (p.Val139Met) rs147452877 0.00006
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys) rs144063384 0.00006
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln) rs143002322 0.00006
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=) rs777812135 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.538C>T (p.Leu180=) rs373835427 0.00006
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met) rs530125285 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 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.1734C>T (p.Val578=) rs536499156 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe) rs745308624 0.00006
NM_001113378.2(FANCI):c.2023T>C (p.Leu675=) rs144800324 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.2751T>C (p.Ser917=) rs202135041 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.2890-19G>A rs758850736 0.00006
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672 0.00006
NM_001113378.2(FANCI):c.546-19T>C rs111301033 0.00006
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) rs779604966 0.00006
NM_001113378.2(FANCI):c.798T>C (p.His266=) rs148856789 0.00006
NM_001113525.2(ZNF276):c.*2634C>T rs34476949 0.00006
NM_001271938.2(MEGF8):c.1391-3C>T rs377586547 0.00006
NM_001271938.2(MEGF8):c.1789-5C>T rs752609842 0.00006
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln) rs146355445 0.00006
NM_001271938.2(MEGF8):c.2784G>A (p.Ala928=) rs750686408 0.00006
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys) rs762398666 0.00006
NM_001271938.2(MEGF8):c.3951C>T (p.Pro1317=) rs139891048 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.6753G>A (p.Thr2251=) rs372437317 0.00006
NM_001271938.2(MEGF8):c.7311C>T (p.Gly2437=) rs375011847 0.00006
NM_001271938.2(MEGF8):c.7713G>A (p.Pro2571=) rs200748447 0.00006
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr) rs373293709 0.00006
NM_001278689.2(EOGT):c.624T>C (p.Phe208=) rs371892977 0.00006
NM_001346754.2(PIGW):c.405T>C (p.Ile135=) rs150604569 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_001346754.2(PIGW):c.883C>T (p.Arg295Trp) rs367592728 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.315G>A (p.Pro105=) rs139473153 0.00006
NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly) rs370136073 0.00006
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met) rs370333257 0.00006
NM_001374353.1(GLI2):c.672G>A (p.Thr224=) rs147049153 0.00006
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179 0.00006
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu) rs749702423 0.00006
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.3591-19A>G rs376628079 0.00006
NM_001429.4(EP300):c.3750C>T (p.Cys1250=) rs747187417 0.00006
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.5568G>A (p.Thr1856=) rs202043101 0.00006
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile) rs368554118 0.00006
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00006
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776 0.00006
NM_001429.4(EP300):c.7114A>G (p.Met2372Val) rs768061933 0.00006
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His) rs1256710897 0.00006
NM_001999.4(FBN2):c.1682A>G (p.His561Arg) rs28763951 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952 0.00006
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu) rs144505094 0.00006
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro) rs143195229 0.00006
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val) rs765442038 0.00006
NM_001999.4(FBN2):c.5422+6T>G rs1000499022 0.00006
NM_001999.4(FBN2):c.5423-8C>A rs1195073601 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=) rs377133710 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu) rs766271753 0.00006
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg) rs749623269 0.00006
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_002334.4(LRP4):c.1023C>T (p.Ser341=) rs200097836 0.00006
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln) rs773234882 0.00006
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys) rs148856658 0.00006
NM_002334.4(LRP4):c.1584C>T (p.Thr528=) rs574108233 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) rs374890595 0.00006
NM_002334.4(LRP4):c.3756G>A (p.Val1252=) rs75923112 0.00006
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=) rs201016203 0.00006
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val) rs779526693 0.00006
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) rs17848229 0.00006
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=) rs372569948 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln) rs150211735 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile) rs761403316 0.00006
NM_002334.4(LRP4):c.612C>T (p.Ile204=) rs757902891 0.00006
NM_002334.4(LRP4):c.676+4A>G rs759630167 0.00006
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) rs557300271 0.00006
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met) rs373471563 0.00006
NM_002968.3(SALL1):c.2223G>A (p.Arg741=) rs1430868205 0.00006
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His) rs529030284 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_002968.3(SALL1):c.63C>T (p.Leu21=) rs536125319 0.00006
NM_002968.3(SALL1):c.649G>A (p.Gly217Ser) rs140165636 0.00006
NM_003289.4(TPM2):c.225G>A (p.Glu75=) rs375762242 0.00006
NM_003289.4(TPM2):c.357G>A (p.Ala119=) rs376028030 0.00006
NM_003289.4(TPM2):c.374+16G>A rs769858878 0.00006
NM_003289.4(TPM2):c.666A>G (p.Glu222=) rs567593410 0.00006
NM_003334.4(UBA1):c.117+15C>T rs782784799 0.00006
NM_003334.4(UBA1):c.1356C>T (p.Asp452=) rs375669736 0.00006
NM_003334.4(UBA1):c.351C>T (p.Tyr117=) rs782799228 0.00006
NM_004380.3(CREBBP):c.2364C>T (p.Pro788=) rs201070000 0.00006
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4560+6C>T rs369973805 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=) rs539366777 0.00006
NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=) rs377692518 0.00006
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) rs587783514 0.00006
NM_004629.2(FANCG):c.1048C>T (p.Leu350=) rs772109570 0.00006
NM_004629.2(FANCG):c.1182T>C (p.Pro394=) rs757225801 0.00006
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp) rs183777537 0.00006
NM_004629.2(FANCG):c.1433+9G>A rs187315404 0.00006
NM_004629.2(FANCG):c.1480+7T>C rs374096159 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.705G>A (p.Ala235=) rs148910563 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_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005055.5(RAPSN):c.30C>T (p.Ile10=) rs768838402 0.00006
NM_005055.5(RAPSN):c.690+10C>T rs78293924 0.00006
NM_005055.5(RAPSN):c.756C>T (p.Phe252=) rs758794718 0.00006
NM_005055.5(RAPSN):c.948C>T (p.Ala316=) rs374676714 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.1740T>G (p.Leu580=) rs374556359 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=) rs200818432 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_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_005445.4(SMC3):c.1670+6_1670+7insAAC rs766155607 0.00006
NM_005445.4(SMC3):c.2427+10C>G rs759235379 0.00006
NM_005592.4(MUSK):c.1863G>A (p.Ala621=) rs368049319 0.00006
NM_005592.4(MUSK):c.570T>C (p.Cys190=) rs746340721 0.00006
NM_005592.4(MUSK):c.913+10C>G rs761707078 0.00006
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro) rs201804790 0.00006
NM_006265.3(RAD21):c.540C>T (p.Asp180=) rs761693720 0.00006
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=) rs782008528 0.00006
NM_006306.4(SMC1A):c.2977G>T (p.Ala993Ser) rs782127256 0.00006
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256 0.00006
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00006
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=) rs574333514 0.00006
NM_012243.3(SLC35A3):c.525A>G (p.Gly175=) rs374048002 0.00006
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00006
NM_013352.4(DSE):c.1419C>T (p.Tyr473=) rs374010235 0.00006
NM_013352.4(DSE):c.208C>T (p.Arg70Cys) rs375337613 0.00006
NM_013352.4(DSE):c.2752A>G (p.Met918Val) rs780791978 0.00006
NM_013352.4(DSE):c.600A>G (p.Gln200=) rs150006874 0.00006
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile) rs754947736 0.00006
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) rs776515230 0.00006
NM_017617.5(NOTCH1):c.1026C>T (p.Ala342=) rs755895298 0.00006
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.1555+15C>T rs577175237 0.00006
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) rs562807473 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.2207+14C>T rs369626003 0.00006
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110 0.00006
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) rs776698364 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00006
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg) rs1397413424 0.00006
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=) rs749585921 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 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.339C>T (p.Asn113=) rs369947231 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=) rs1008389563 0.00006
NM_017617.5(NOTCH1):c.404-13C>G rs766360723 0.00006
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu) rs750010764 0.00006
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987 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.4756C>T (p.Arg1586Cys) rs1418474023 0.00006
NM_017617.5(NOTCH1):c.4833C>T (p.His1611=) rs1308437413 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00006
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958 0.00006
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) rs375073677 0.00006
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941 0.00006
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) rs777957099 0.00006
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106 0.00006
NM_017617.5(NOTCH1):c.6981G>T (p.Arg2327=) rs376490131 0.00006
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=) rs1392150131 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) rs753752321 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) rs367706382 0.00006
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416 0.00006
NM_017617.5(NOTCH1):c.7617T>G (p.Pro2539=) rs375444185 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 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.471+9C>G rs376716140 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_018486.3(HDAC8):c.213C>T (p.His71=) rs782349794 0.00006
NM_020436.5(SALL4):c.2028C>T (p.Asn676=) rs755057820 0.00006
NM_020436.5(SALL4):c.318C>T (p.Ser106=) rs371144604 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.1397-16T>A rs752547104 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.1996A>G (p.Arg666Gly) rs78437454 0.00006
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys) rs200173413 0.00006
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045 0.00006
NM_020937.4(FANCM):c.2682A>C (p.Leu894=) rs757013722 0.00006
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375 0.00006
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val) rs573485502 0.00006
NM_020937.4(FANCM):c.3570C>A (p.Leu1190=) rs766057000 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.5026G>A (p.Glu1676Lys) rs769919966 0.00006
NM_020937.4(FANCM):c.5770A>T (p.Thr1924Ser) rs747103379 0.00006
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys) rs199699785 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_021922.3(FANCE):c.1062T>C (p.Asp354=) rs377505032 0.00006
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile) rs758380315 0.00006
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr) rs1225225979 0.00006
NM_021922.3(FANCE):c.1509+8T>C rs562092952 0.00006
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr) rs377415237 0.00006
NM_021922.3(FANCE):c.1608C>G (p.Pro536=) rs370301848 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_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp) rs577253174 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.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.1977+10G>A rs770318743 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_023110.3(FGFR1):c.2292+3A>G rs747737281 0.00006
NM_023110.3(FGFR1):c.358+18G>T rs375458309 0.00006
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=) rs544977115 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.1176A>G (p.Leu392=) rs550092661 0.00006
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=) rs730881640 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 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.165C>T (p.Cys55=) rs202030834 0.00006
NM_032444.4(SLX4):c.1702G>A (p.Val568Met) rs371825444 0.00006
NM_032444.4(SLX4):c.1896G>C (p.Gly632=) rs200859735 0.00006
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val) rs746717279 0.00006
NM_032444.4(SLX4):c.2181C>T (p.Ser727=) rs565391485 0.00006
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val) rs201622632 0.00006
NM_032444.4(SLX4):c.2424C>T (p.Cys808=) rs774909246 0.00006
NM_032444.4(SLX4):c.2457G>A (p.Leu819=) rs148026020 0.00006
NM_032444.4(SLX4):c.258A>G (p.Ile86Met) rs112205823 0.00006
NM_032444.4(SLX4):c.2655G>A (p.Pro885=) rs564629312 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.2898G>A (p.Gln966=) rs748700450 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_032444.4(SLX4):c.2949C>T (p.Tyr983=) rs758944750 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.3138C>T (p.Arg1046=) rs527904726 0.00006
NM_032444.4(SLX4):c.3684T>C (p.Ser1228=) rs752040666 0.00006
NM_032444.4(SLX4):c.3738C>T (p.Ser1246=) rs376232540 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.4335G>C (p.Arg1445=) rs139377113 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.5178G>A (p.Ala1726=) rs140666540 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.873G>A (p.Lys291=) rs751904877 0.00006
NM_032444.4(SLX4):c.900A>G (p.Gln300=) rs373867005 0.00006
NM_032444.4(SLX4):c.996G>T (p.Gln332His) rs377201471 0.00006
NM_032634.4(PIGO):c.1392C>T (p.Ile464=) rs149790500 0.00006
NM_032634.4(PIGO):c.1488G>A (p.Ala496=) rs140004995 0.00006
NM_032634.4(PIGO):c.158G>A (p.Gly53Glu) rs750495026 0.00006
NM_032634.4(PIGO):c.1662G>A (p.Leu554=) rs369433160 0.00006
NM_032634.4(PIGO):c.1811G>A (p.Arg604His) rs144507866 0.00006
NM_032634.4(PIGO):c.1864C>A (p.Leu622Met) rs149262338 0.00006
NM_032634.4(PIGO):c.2506A>G (p.Met836Val) rs752108320 0.00006
NM_032634.4(PIGO):c.2908C>T (p.Arg970Trp) rs748546962 0.00006
NM_032634.4(PIGO):c.3141-15C>T rs368599591 0.00006
NM_032634.4(PIGO):c.581T>G (p.Phe194Cys) rs61755365 0.00006
NM_032634.4(PIGO):c.876G>A (p.Leu292=) rs146908736 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.336G>A (p.Gly112=) rs746122031 0.00006
NM_058216.3(RAD51C):c.351A>G (p.Leu117=) rs370986989 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_058216.3(RAD51C):c.813C>T (p.Ser271=) rs376853755 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_058216.3(RAD51C):c.967T>C (p.Leu323=) rs747727600 0.00006
NM_130468.4(CHST14):c.447C>T (p.Phe149=) rs761965484 0.00006
NM_130468.4(CHST14):c.567G>A (p.Val189=) rs758319940 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp) rs148420552 0.00006
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=) rs531615496 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.6589+9A>T rs370709104 0.00006
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=) rs398124470 0.00006
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=) rs1286310849 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260 0.00006
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676 0.00006
NM_147127.5(EVC2):c.192G>C (p.Pro64=) rs777094897 0.00006
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 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.2604C>T (p.Leu868=) rs138672121 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440 0.00006
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261 0.00006
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646 0.00006
NM_153717.3(EVC):c.1564-8C>T rs373957181 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00006
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00006
NM_153717.3(EVC):c.588C>T (p.Asn196=) rs756994584 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_173660.5(DOK7):c.1014C>T (p.Ser338=) rs768867580 0.00006
NM_173660.5(DOK7):c.1107G>A (p.Leu369=) rs778918520 0.00006
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00006
NM_173660.5(DOK7):c.1170C>T (p.Pro390=) rs199525739 0.00006
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala) rs765625554 0.00006
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser) rs140519765 0.00006
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly) rs775074100 0.00006
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln) rs201953114 0.00006
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala) rs759395609 0.00006
NM_173660.5(DOK7):c.327C>T (p.Gly109=) rs377367035 0.00006
NM_173660.5(DOK7):c.532+9G>A rs374795386 0.00006
NM_173660.5(DOK7):c.54+32G>C rs763739780 0.00006
NM_173660.5(DOK7):c.639G>A (p.Arg213=) rs1411499971 0.00006
NM_173660.5(DOK7):c.653-9C>G rs1350076940 0.00006
NM_173660.5(DOK7):c.882G>A (p.Thr294=) rs369425286 0.00006
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg) rs759691572 0.00006
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) rs376280466 0.00006
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln) rs750929473 0.00006
NM_173660.5(DOK7):c.996C>T (p.Arg332=) rs781199587 0.00006
NM_000079.4(CHRNA1):c.112G>A (p.Val38Met) rs569049580 0.00005
NM_000079.4(CHRNA1):c.575A>G (p.Glu192Gly) rs746009147 0.00005
NM_000079.4(CHRNA1):c.63C>T (p.Ser21=) rs751313425 0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.1359+16A>G rs200016746 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 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.2316+9C>G rs776301232 0.00005
NM_000135.4(FANCA):c.2317-8C>T rs753766357 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.2779-11C>G rs185392597 0.00005
NM_000135.4(FANCA):c.27C>T (p.Ser9=) rs540584108 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.897C>T (p.Phe299=) rs765341703 0.00005
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377 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.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.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_000751.3(CHRND):c.225C>G (p.Thr75=) rs146508326 0.00005
NM_000751.3(CHRND):c.260G>A (p.Arg87Gln) rs201264983 0.00005
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639 0.00005
NM_000751.3(CHRND):c.582C>T (p.Pro194=) rs773089899 0.00005
NM_000751.3(CHRND):c.849G>A (p.Ser283=) rs749757968 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.1838G>A (p.Arg613His) rs144764663 0.00005
NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile) rs750180189 0.00005
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) rs373141774 0.00005
NM_001018113.3(FANCB):c.2165+10A>T rs184385334 0.00005
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) rs756392097 0.00005
NM_001018113.3(FANCB):c.388A>G (p.Met130Val) rs776724055 0.00005
NM_001018115.3(FANCD2):c.1068T>C (p.Tyr356=) rs531943246 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.183G>A (p.Thr61=) rs771445756 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_001018115.3(FANCD2):c.3778-20C>T rs751107447 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 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_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001113378.2(FANCI):c.1113-10G>C rs756650711 0.00005
NM_001113378.2(FANCI):c.1248G>A (p.Gln416=) rs998334333 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1704T>C (p.His568=) rs200990786 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.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg) rs772035961 0.00005
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=) rs746659886 0.00005
NM_001271938.2(MEGF8):c.352-5C>T rs180788941 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.5751A>G (p.Pro1917=) rs200526872 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_001346754.2(PIGW):c.886G>T (p.Val296Phe) rs143449294 0.00005
NM_001374353.1(GLI2):c.1367G>A (p.Arg456His) rs150170739 0.00005
NM_001374353.1(GLI2):c.1383G>A (p.Thr461=) rs768606373 0.00005
NM_001374353.1(GLI2):c.1701T>C (p.His567=) rs370382506 0.00005
NM_001374353.1(GLI2):c.1947C>T (p.Ser649=) rs528985094 0.00005
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406 0.00005
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile) rs761857488 0.00005
NM_001374353.1(GLI2):c.3405C>T (p.Gly1135=) rs753450963 0.00005
NM_001429.4(EP300):c.1529-16T>C rs1343155056 0.00005
NM_001429.4(EP300):c.1878+13T>C rs200466416 0.00005
NM_001429.4(EP300):c.270C>T (p.Ser90=) rs367583060 0.00005
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) rs779792116 0.00005
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273 0.00005
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.5391G>A (p.Gln1797=) rs1014464615 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001999.4(FBN2):c.1078+9C>T rs371692018 0.00005
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554 0.00005
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063 0.00005
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile) rs146143173 0.00005
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512 0.00005
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=) rs753387547 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.5674+18T>G rs199749609 0.00005
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604 0.00005
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839 0.00005
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn) rs770279192 0.00005
NM_002334.4(LRP4):c.1437C>T (p.Arg479=) rs141108617 0.00005
NM_002334.4(LRP4):c.1779C>T (p.Ala593=) rs202063944 0.00005
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) rs762837686 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=) rs779045515 0.00005
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=) rs752801557 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) rs146362081 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter) rs147138337 0.00005
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) rs372637156 0.00005
NM_002334.4(LRP4):c.922+13G>A rs771013783 0.00005
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) rs754902005 0.00005
NM_003289.4(TPM2):c.564-18_564-17insA rs1554658810 0.00005
NM_003334.4(UBA1):c.1197C>T (p.Ala399=) rs782593880 0.00005
NM_003334.4(UBA1):c.1233+8C>T rs1178927745 0.00005
NM_003334.4(UBA1):c.1543C>A (p.Arg515=) rs150198324 0.00005
NM_003334.4(UBA1):c.1791G>A (p.Glu597=) rs372366129 0.00005
NM_003334.4(UBA1):c.2839-7C>T rs199797125 0.00005
NM_003334.4(UBA1):c.678+18A>T rs782509809 0.00005
NM_003334.4(UBA1):c.798G>A (p.Glu266=) rs202041421 0.00005
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.1854C>T (p.Pro618=) rs61754522 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004380.3(CREBBP):c.414C>T (p.Ala138=) rs542552676 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=) rs375448134 0.00005
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) rs201041980 0.00005
NM_004629.2(FANCG):c.1636+20G>A rs369348926 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_004629.2(FANCG):c.933T>C (p.Asn311=) rs1283707202 0.00005
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile) rs200892332 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.690+4G>A rs201803329 0.00005
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys) rs772054419 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_005592.4(MUSK):c.1259G>A (p.Gly420Glu) rs373421409 0.00005
NM_005592.4(MUSK):c.1542T>G (p.Thr514=) rs762656586 0.00005
NM_005592.4(MUSK):c.1674G>A (p.Pro558=) rs541645382 0.00005
NM_005592.4(MUSK):c.17A>G (p.Asn6Ser) rs747203404 0.00005
NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu) rs181652070 0.00005
NM_005592.4(MUSK):c.1862C>T (p.Ala621Val) rs777853943 0.00005
NM_005592.4(MUSK):c.206+9T>C rs753218110 0.00005
NM_005592.4(MUSK):c.486+12T>A rs757179369 0.00005
NM_005592.4(MUSK):c.885C>T (p.Ala295=) rs756029372 0.00005
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908 0.00005
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274 0.00005
NM_006306.4(SMC1A):c.825G>A (p.Arg275=) rs150488530 0.00005
NM_012243.3(SLC35A3):c.409G>A (p.Gly137Ser) rs764989689 0.00005
NM_012243.3(SLC35A3):c.754-10A>T rs765112592 0.00005
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln) rs367959320 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544 0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.1670-8C>T rs527374781 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.219A>G (p.Thr73=) rs759781673 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu) rs755058802 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.3326-16A>T rs374731388 0.00005
NM_017617.5(NOTCH1):c.3326-4G>A rs773638417 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys) rs371868900 0.00005
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090 0.00005
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val) rs752951296 0.00005
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) rs762733162 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.4981C>T (p.Arg1661Trp) rs998433493 0.00005
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=) rs775882968 0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459 0.00005
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu) rs766358616 0.00005
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) rs766444406 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.5373C>T (p.Ser1791=) rs777013344 0.00005
NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser) rs765708087 0.00005
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=) rs773621396 0.00005
NM_017617.5(NOTCH1):c.61+7G>T rs753396547 0.00005
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.6941T>C (p.Leu2314Pro) rs200929799 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171 0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893 0.00005
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val) rs777934565 0.00005
NM_017617.5(NOTCH1):c.7398G>A (p.Thr2466=) rs775056799 0.00005
NM_017617.5(NOTCH1):c.743-4G>T rs748001079 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_018062.4(FANCL):c.261G>A (p.Leu87=) rs1049409962 0.00005
NM_018062.4(FANCL):c.343A>G (p.Ile115Val) rs149414332 0.00005
NM_018062.4(FANCL):c.374+18_374+29del rs775890254 0.00005
NM_018486.3(HDAC8):c.629-14C>T rs1164078285 0.00005
NM_018486.3(HDAC8):c.639C>T (p.Asp213=) rs142540077 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.1491dup (p.Gln498fs) rs797045116 0.00005
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met) rs149473953 0.00005
NM_020937.4(FANCM):c.2161-18A>G rs780042399 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.3777A>G (p.Leu1259=) rs759051559 0.00005
NM_020937.4(FANCM):c.4387-13C>T rs548622939 0.00005
NM_020937.4(FANCM):c.4776G>A (p.Ser1592=) rs964884247 0.00005
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro) rs751104662 0.00005
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) rs779858649 0.00005
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 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_021922.3(FANCE):c.861G>A (p.Gln287=) rs772248459 0.00005
NM_022725.4(FANCF):c.372C>G (p.Ala124=) rs199705194 0.00005
NM_022725.4(FANCF):c.537G>A (p.Lys179=) rs772589448 0.00005
NM_022725.4(FANCF):c.873A>G (p.Lys291=) rs757578045 0.00005
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln) rs746602135 0.00005
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser) rs780765366 0.00005
NM_023110.3(FGFR1):c.745+7G>A rs202096944 0.00005
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly) rs577768294 0.00005
NM_032043.3(BRIP1):c.1936-4C>T rs587780552 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.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.1924+9C>T rs767533009 0.00005
NM_032444.4(SLX4):c.1932C>T (p.Asp644=) rs562351012 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.2100G>A (p.Gly700=) rs755000337 0.00005
NM_032444.4(SLX4):c.2112C>T (p.Tyr704=) rs566797597 0.00005
NM_032444.4(SLX4):c.2259C>G (p.His753Gln) rs374294258 0.00005
NM_032444.4(SLX4):c.237T>C (p.Ala79=) rs375620914 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.3801T>C (p.Arg1267=) rs772673695 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.4716G>A (p.Pro1572=) rs372472816 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.621A>G (p.Gln207=) rs747450611 0.00005
NM_032444.4(SLX4):c.668G>A (p.Arg223His) rs762475814 0.00005
NM_032634.4(PIGO):c.1288C>G (p.Gln430Glu) rs375108991 0.00005
NM_032634.4(PIGO):c.1554A>G (p.Ala518=) rs373701949 0.00005
NM_032634.4(PIGO):c.2191C>T (p.Arg731Cys) rs148341577 0.00005
NM_032634.4(PIGO):c.2562C>T (p.Arg854=) rs780108725 0.00005
NM_032634.4(PIGO):c.2617C>G (p.Leu873Val) rs542956681 0.00005
NM_032634.4(PIGO):c.268G>A (p.Val90Met) rs142276590 0.00005
NM_058216.3(RAD51C):c.331C>T (p.Leu111Phe) rs1402638488 0.00005
NM_130468.4(CHST14):c.1119G>A (p.Ala373=) rs149555952 0.00005
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp) rs751913459 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.126C>T (p.Leu42=) rs781009014 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477 0.00005
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_147127.5(EVC2):c.2157C>T (p.Ala719=) rs777141609 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=) rs777897646 0.00005
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475 0.00005
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1152T>C (p.Phe384=) rs574038265 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_153717.3(EVC):c.1962C>T (p.Asn654=) rs189626383 0.00005
NM_153717.3(EVC):c.2010C>T (p.Leu670=) rs369722491 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00005
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala) rs377326004 0.00005
NM_173660.5(DOK7):c.201C>T (p.Pro67=) rs770153614 0.00005
NM_173660.5(DOK7):c.314G>A (p.Arg105His) rs776352781 0.00005
NM_173660.5(DOK7):c.331+16C>T rs577280323 0.00005
NM_173660.5(DOK7):c.378C>T (p.Ser126=) rs753043554 0.00005
NM_173660.5(DOK7):c.54+8C>T rs577687998 0.00005
NM_173660.5(DOK7):c.653-18G>C rs762076600 0.00005
NM_173660.5(DOK7):c.822C>T (p.Asp274=) rs141732576 0.00005
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
NM_173660.5(DOK7):c.968G>A (p.Arg323His) rs763188032 0.00005
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) rs886055151 0.00004
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000079.4(CHRNA1):c.137G>A (p.Arg46His) rs149851833 0.00004
NM_000079.4(CHRNA1):c.144C>T (p.Val48=) rs766106058 0.00004
NM_000079.4(CHRNA1):c.189+16T>A rs1419917128 0.00004
NM_000079.4(CHRNA1):c.235-18G>A rs1162280178 0.00004
NM_000079.4(CHRNA1):c.345-10C>T rs775001526 0.00004
NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser) rs772271812 0.00004
NM_000079.4(CHRNA1):c.675C>T (p.Phe225=) rs531534298 0.00004
NM_000079.4(CHRNA1):c.750C>T (p.Gly250=) rs186607397 0.00004
NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys) rs536229089 0.00004
NM_000079.4(CHRNA1):c.77G>A (p.Arg26His) rs777813669 0.00004
NM_000135.4(FANCA):c.1007-6C>T rs770125368 0.00004
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241 0.00004
NM_000135.4(FANCA):c.1359+5G>C rs183569738 0.00004
NM_000135.4(FANCA):c.1360-19C>T rs766723015 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.1715+16G>A rs752140435 0.00004
NM_000135.4(FANCA):c.1716-3C>T rs760855591 0.00004
NM_000135.4(FANCA):c.1731T>G (p.Pro577=) rs770851966 0.00004
NM_000135.4(FANCA):c.1777-13T>C rs368496868 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.1887A>G (p.Glu629=) rs769662954 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.1929C>G (p.Pro643=) rs1360940645 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.2088C>T (p.Ser696=) rs150917432 0.00004
NM_000135.4(FANCA):c.2090T>C (p.Val697Ala) rs777863668 0.00004
NM_000135.4(FANCA):c.2222+14C>T rs368973617 0.00004
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355 0.00004
NM_000135.4(FANCA):c.2277T>G (p.Pro759=) rs370053960 0.00004
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) rs377442601 0.00004
NM_000135.4(FANCA):c.2371C>T (p.Leu791=) rs541949982 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.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_000135.4(FANCA):c.2982-15G>A rs55718325 0.00004
NM_000135.4(FANCA):c.2982-8C>G rs781331325 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 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.3239+7C>T rs775293779 0.00004
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=) rs139126509 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.3409-6C>T rs377428227 0.00004
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn) rs375630115 0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00004
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=) rs774029286 0.00004
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190 0.00004
NM_000135.4(FANCA):c.3693C>T (p.His1231=) rs144524132 0.00004
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu) rs576079738 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000135.4(FANCA):c.4084T>C (p.Leu1362=) rs775351812 0.00004
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=) rs368985041 0.00004
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=) rs367630825 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000135.4(FANCA):c.498C>T (p.Phe166=) rs757941026 0.00004
NM_000135.4(FANCA):c.596+6G>A rs369548513 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.826+13C>G rs34240625 0.00004
NM_000135.4(FANCA):c.827-6C>G rs756991336 0.00004
NM_000135.4(FANCA):c.894-15C>T rs753166995 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000135.4(FANCA):c.957C>G (p.Phe319Leu) rs17226068 0.00004
NM_000135.4(FANCA):c.984C>T (p.Leu328=) rs907022035 0.00004
NM_000136.3(FANCC):c.-18C>G rs762660689 0.00004
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260 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.1623T>G (p.Pro541=) rs375362894 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_000136.3(FANCC):c.250+15C>T rs200138313 0.00004
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00004
NM_000136.3(FANCC):c.457-12T>A rs188659251 0.00004
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr) rs950623649 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 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_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_000751.3(CHRND):c.1252+10C>T rs373581541 0.00004
NM_000751.3(CHRND):c.1252+1G>A rs1285705072 0.00004
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000751.3(CHRND):c.1319A>T (p.Asp440Val) rs373747090 0.00004
NM_000751.3(CHRND):c.1442T>C (p.Met481Thr) rs777430398 0.00004
NM_000751.3(CHRND):c.160G>A (p.Val54Ile) rs369869476 0.00004
NM_000751.3(CHRND):c.226A>G (p.Asn76Asp) rs200755491 0.00004
NM_000751.3(CHRND):c.390C>T (p.Asn130=) rs55700159 0.00004
NM_000751.3(CHRND):c.611G>T (p.Gly204Val) rs531000772 0.00004
NM_000751.3(CHRND):c.620-9C>T rs112019415 0.00004
NM_000751.3(CHRND):c.988G>A (p.Val330Met) rs773972915 0.00004
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_001018113.3(FANCB):c.1323G>A (p.Glu441=) rs1015824799 0.00004
NM_001018113.3(FANCB):c.162A>G (p.Thr54=) rs748284861 0.00004
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) rs190579053 0.00004
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg) rs146131050 0.00004
NM_001018113.3(FANCB):c.513G>A (p.Gln171=) rs763353362 0.00004
NM_001018115.3(FANCD2):c.1134+10A>G rs758751922 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.1657-15A>G rs753419823 0.00004
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) rs774801047 0.00004
NM_001018115.3(FANCD2):c.1740C>T (p.Thr580=) rs200041772 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.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg) rs533245636 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val) rs375415579 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001018115.3(FANCD2):c.274-6_274-4del rs762278011 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.3193C>T (p.Leu1065=) rs1267933900 0.00004
NM_001018115.3(FANCD2):c.3276T>C (p.His1092=) rs773833838 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.3483A>G (p.Gln1161=) rs143403347 0.00004
NM_001018115.3(FANCD2):c.3735G>A (p.Thr1245=) rs750130327 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.595C>G (p.Leu199Val) rs756336462 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001113378.2(FANCI):c.1113-11T>C rs112986525 0.00004
NM_001113378.2(FANCI):c.1146C>T (p.Leu382=) rs773475822 0.00004
NM_001113378.2(FANCI):c.1200T>C (p.Asp400=) rs763959132 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.2097C>T (p.Tyr699=) rs148415946 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.2334C>T (p.Tyr778=) rs139857614 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.277C>T (p.Leu93=) rs995731282 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.3006+10C>T rs753914878 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.3720+10T>C rs756636181 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.445+14G>A rs762378388 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.883-16_883-15del rs763087620 0.00004
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile) rs199713555 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_001113525.2(ZNF276):c.*2548T>C rs368372404 0.00004
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284 0.00004
NM_001271938.2(MEGF8):c.3350+11C>T rs201865376 0.00004
NM_001271938.2(MEGF8):c.3957C>A (p.Thr1319=) rs754753739 0.00004
NM_001271938.2(MEGF8):c.3990C>T (p.Pro1330=) rs141015952 0.00004
NM_001271938.2(MEGF8):c.4416C>T (p.Ala1472=) rs139822806 0.00004
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234 0.00004
NM_001271938.2(MEGF8):c.6059-18C>A rs565505835 0.00004
NM_001271938.2(MEGF8):c.6274-8C>G rs543093080 0.00004
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His) rs370984978 0.00004
NM_001271938.2(MEGF8):c.6588C>T (p.His2196=) rs751105144 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.7893C>T (p.Ala2631=) rs150486662 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_001346754.2(PIGW):c.1065C>T (p.Tyr355=) rs776190334 0.00004
NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter) rs770634248 0.00004
NM_001346754.2(PIGW):c.292T>C (p.Tyr98His) rs144724068 0.00004
NM_001346754.2(PIGW):c.764T>C (p.Ile255Thr) rs199762429 0.00004
NM_001374353.1(GLI2):c.1095C>T (p.Thr365=) rs374705620 0.00004
NM_001374353.1(GLI2):c.1158G>A (p.Pro386=) rs141647925 0.00004
NM_001374353.1(GLI2):c.118G>A (p.Ala40Thr) rs776675838 0.00004
NM_001374353.1(GLI2):c.1293C>T (p.Tyr431=) rs768259857 0.00004
NM_001374353.1(GLI2):c.1317+6C>G rs200971419 0.00004
NM_001374353.1(GLI2):c.1633-4C>G rs377701321 0.00004
NM_001374353.1(GLI2):c.1815T>C (p.Pro605=) rs146766721 0.00004
NM_001374353.1(GLI2):c.1906-11G>A rs769187484 0.00004
NM_001374353.1(GLI2):c.2061C>T (p.Ala687=) rs374564316 0.00004
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr) rs553780090 0.00004
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812 0.00004
NM_001374353.1(GLI2):c.2667G>C (p.Pro889=) rs767130064 0.00004
NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu) rs374562179 0.00004
NM_001374353.1(GLI2):c.3489T>C (p.Phe1163=) rs766031476 0.00004
NM_001374353.1(GLI2):c.402C>T (p.His134=) rs200675247 0.00004
NM_001374353.1(GLI2):c.4510C>G (p.His1504Asp) rs199843410 0.00004
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.4592G>A (p.Arg1531Gln) rs371304728 0.00004
NM_001374353.1(GLI2):c.495C>T (p.Gly165=) rs193062450 0.00004
NM_001374353.1(GLI2):c.546C>T (p.Leu182=) rs200028917 0.00004
NM_001374353.1(GLI2):c.606C>T (p.Ser202=) rs146181686 0.00004
NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser) rs144406619 0.00004
NM_001374353.1(GLI2):c.846-18G>A rs765320072 0.00004
NM_001374353.1(GLI2):c.8C>T (p.Thr3Met) rs770918439 0.00004
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569 0.00004
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339 0.00004
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001429.4(EP300):c.6923G>A (p.Arg2308His) rs759647202 0.00004
NM_001429.4(EP300):c.7140A>G (p.Pro2380=) rs543339090 0.00004
NM_001429.4(EP300):c.729+20G>T rs777496736 0.00004
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1140G>A (p.Pro380=) rs532059159 0.00004
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg) rs142228933 0.00004
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu) rs751545674 0.00004
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser) rs779849582 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022 0.00004
NM_001999.4(FBN2):c.2358C>T (p.Asn786=) rs371981691 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554 0.00004
NM_001999.4(FBN2):c.2812+7G>A rs373320057 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=) rs760695805 0.00004
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150 0.00004
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr) rs755127278 0.00004
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met) rs368105987 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352 0.00004
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His) rs139428175 0.00004
NM_001999.4(FBN2):c.4222+10C>A rs376700480 0.00004
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys) rs374493286 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052 0.00004
NM_001999.4(FBN2):c.5200+11A>C rs863223545 0.00004
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082 0.00004
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=) rs751378266 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.6293-8T>A rs375682913 0.00004
NM_001999.4(FBN2):c.645G>A (p.Pro215=) rs764473594 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 0.00004
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu) rs1415043313 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg) rs764998447 0.00004
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) rs746265117 0.00004
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943 0.00004
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847 0.00004
NM_001999.4(FBN2):c.8193-13T>C rs376023293 0.00004
NM_001999.4(FBN2):c.8193-19C>T rs771472324 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=) rs764836656 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615 0.00004
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn) rs747748647 0.00004
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) rs148456240 0.00004
NM_002334.4(LRP4):c.1086C>T (p.Asn362=) rs556905132 0.00004
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser) rs765602909 0.00004
NM_002334.4(LRP4):c.1308G>A (p.Leu436=) rs750627555 0.00004
NM_002334.4(LRP4):c.1309+6G>T rs532952316 0.00004
NM_002334.4(LRP4):c.132C>T (p.Cys44=) rs760552036 0.00004
NM_002334.4(LRP4):c.1481G>A (p.Arg494His) rs777801967 0.00004
NM_002334.4(LRP4):c.1668C>T (p.Pro556=) rs766741394 0.00004
NM_002334.4(LRP4):c.1932C>T (p.Phe644=) rs1011484252 0.00004
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys) rs1323412236 0.00004
NM_002334.4(LRP4):c.2093-16T>C rs751168409 0.00004
NM_002334.4(LRP4):c.2202C>T (p.His734=) rs757999800 0.00004
NM_002334.4(LRP4):c.2358C>T (p.His786=) rs371677748 0.00004
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) rs145557677 0.00004
NM_002334.4(LRP4):c.2610C>T (p.Gly870=) rs751431064 0.00004
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) rs376848284 0.00004
NM_002334.4(LRP4):c.2766C>T (p.Ala922=) rs773599397 0.00004
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg) rs368880157 0.00004
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val) rs748636802 0.00004
NM_002334.4(LRP4):c.3367C>A (p.Leu1123Ile) rs763514608 0.00004
NM_002334.4(LRP4):c.3388G>A (p.Ala1130Thr) rs142904009 0.00004
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=) rs768821263 0.00004
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) rs369916883 0.00004
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) rs185084650 0.00004
NM_002334.4(LRP4):c.4665T>C (p.His1555=) rs145206396 0.00004
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=) rs780329570 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.53-7C>T rs745407997 0.00004
NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His) rs146542222 0.00004
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met) rs375391856 0.00004
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=) rs751494811 0.00004
NM_002334.4(LRP4):c.761C>T (p.Ala254Val) rs767281769 0.00004
NM_002334.4(LRP4):c.933A>G (p.Gln311=) rs375108263 0.00004
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln) rs762072595 0.00004
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_002968.3(SALL1):c.3327G>A (p.Pro1109=) rs375357921 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.3957G>A (p.Lys1319=) rs1366906259 0.00004
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_003289.4(TPM2):c.773-10_773-9insG rs780351083 0.00004
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp) rs148642741 0.00004
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp) rs201504752 0.00004
NM_003334.4(UBA1):c.1610G>A (p.Arg537His) rs372418523 0.00004
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile) rs782106589 0.00004
NM_003334.4(UBA1):c.177-11del rs781797300 0.00004
NM_003334.4(UBA1):c.2376G>A (p.Gln792=) rs782085921 0.00004
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=) rs781864389 0.00004
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser) rs149161653 0.00004
NM_003334.4(UBA1):c.411G>A (p.Glu137=) rs782009712 0.00004
NM_003334.4(UBA1):c.423T>C (p.Tyr141=) rs782435953 0.00004
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr) rs370128808 0.00004
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu) rs150767375 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro) rs370012973 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu) rs143180774 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.594T>C (p.Ile198=) rs1376107928 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=) rs769325049 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.69G>A (p.Ser23=) rs766095612 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 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.18C>T (p.Thr6=) rs777459203 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.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.795A>T (p.Ala265=) rs537570311 0.00004
NM_004629.2(FANCG):c.832dup (p.Ala278fs) rs1290655946 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_005055.5(RAPSN):c.1090G>A (p.Gly364Ser) rs372865599 0.00004
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp) rs145507075 0.00004
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00004
NM_005055.5(RAPSN):c.216G>A (p.Thr72=) rs141877523 0.00004
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys) rs769989407 0.00004
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser) rs138863694 0.00004
NM_005055.5(RAPSN):c.690+19G>A rs183974908 0.00004
NM_005055.5(RAPSN):c.708G>A (p.Ala236=) rs770777539 0.00004
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) rs771749514 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=) rs144305111 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.1830C>T (p.Tyr610=) rs763332387 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.2430G>A (p.Ala810=) rs770255135 0.00004
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=) rs757316495 0.00004
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905 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.906T>C (p.Asp302=) rs148003381 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 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_005592.4(MUSK):c.1100G>A (p.Arg367Gln) rs1038479586 0.00004
NM_005592.4(MUSK):c.1323T>C (p.His441=) rs369015815 0.00004
NM_005592.4(MUSK):c.1522G>A (p.Val508Met) rs769267043 0.00004
NM_005592.4(MUSK):c.207-5T>C rs779359576 0.00004
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr) rs547450130 0.00004
NM_005592.4(MUSK):c.2283C>T (p.Asn761=) rs777419932 0.00004
NM_005592.4(MUSK):c.2286C>T (p.Asp762=) rs199832657 0.00004
NM_005592.4(MUSK):c.2403G>A (p.Gln801=) rs372194698 0.00004
NM_005592.4(MUSK):c.2539C>A (p.Pro847Thr) rs760757288 0.00004
NM_005592.4(MUSK):c.358+19C>T rs376236950 0.00004
NM_005592.4(MUSK):c.397A>G (p.Ile133Val) rs570136508 0.00004
NM_005592.4(MUSK):c.453A>G (p.Ser151=) rs373961420 0.00004
NM_005592.4(MUSK):c.486+15T>C rs369902312 0.00004
NM_005592.4(MUSK):c.647G>A (p.Arg216Gln) rs188464904 0.00004
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg) rs1319203200 0.00004
NM_006265.3(RAD21):c.1221A>G (p.Gly407=) rs147090806 0.00004
NM_006265.3(RAD21):c.1471-3A>G rs202098276 0.00004
NM_006265.3(RAD21):c.393G>A (p.Gln131=) rs759582860 0.00004
NM_006265.3(RAD21):c.640C>G (p.Gln214Glu) rs767342502 0.00004
NM_006265.3(RAD21):c.807T>C (p.Asn269=) rs372221161 0.00004
NM_006265.3(RAD21):c.892C>G (p.Pro298Ala) rs148308569 0.00004
NM_006265.3(RAD21):c.999T>C (p.Asp333=) rs768725843 0.00004
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=) rs142531536 0.00004
NM_006306.4(SMC1A):c.298+12T>C rs782781148 0.00004
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=) rs374246357 0.00004
NM_006306.4(SMC1A):c.3438-3C>T rs782161734 0.00004
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val) rs1171109209 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=) rs773812783 0.00004
NM_012243.3(SLC35A3):c.42C>G (p.Val14=) rs761558203 0.00004
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs) rs866803539 0.00004
NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe) rs137902416 0.00004
NM_013352.4(DSE):c.120C>T (p.Tyr40=) rs75392879 0.00004
NM_013352.4(DSE):c.1737C>T (p.Pro579=) rs765462761 0.00004
NM_013352.4(DSE):c.215C>T (p.Thr72Met) rs201564300 0.00004
NM_013352.4(DSE):c.2242C>T (p.His748Tyr) rs770096528 0.00004
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr) rs140764351 0.00004
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly) rs377694163 0.00004
NM_013352.4(DSE):c.730C>T (p.Leu244=) rs1041865456 0.00004
NM_013352.4(DSE):c.95T>C (p.Met32Thr) rs140765634 0.00004
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) rs192677621 0.00004
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp) rs758494719 0.00004
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.481+10C>T rs546078370 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_017617.5(NOTCH1):c.1023C>T (p.Ser341=) rs200324222 0.00004
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn) rs770729642 0.00004
NM_017617.5(NOTCH1):c.1206G>A (p.Ser402=) rs746848165 0.00004
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874 0.00004
NM_017617.5(NOTCH1):c.1376A>G (p.Asn459Ser) rs574143345 0.00004
NM_017617.5(NOTCH1):c.1441+13G>C rs765812485 0.00004
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178 0.00004
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn) rs367873715 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.1904-10A>G rs200896186 0.00004
NM_017617.5(NOTCH1):c.1904-3C>A rs748118679 0.00004
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) rs780810308 0.00004
NM_017617.5(NOTCH1):c.2015-13G>A rs772867940 0.00004
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00004
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg) rs373233257 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.2503C>T (p.Pro835Ser) rs377353441 0.00004
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) rs201521828 0.00004
NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=) rs763472606 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.2613C>T (p.Asn871=) rs767614547 0.00004
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629 0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859 0.00004
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) rs762732089 0.00004
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470 0.00004
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile) rs367860186 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=) rs768144709 0.00004
NM_017617.5(NOTCH1):c.3282C>T (p.Cys1094=) rs748813647 0.00004
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln) rs756087913 0.00004
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr) rs767963898 0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00004
NM_017617.5(NOTCH1):c.3483G>A (p.Thr1161=) rs369392246 0.00004
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=) rs758860870 0.00004
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp) rs761304479 0.00004
NM_017617.5(NOTCH1):c.3732C>T (p.Cys1244=) rs746262173 0.00004
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His) rs368400902 0.00004
NM_017617.5(NOTCH1):c.3901+9C>T rs370537711 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His) rs1180096756 0.00004
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569 0.00004
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791 0.00004
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530 0.00004
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) rs773323801 0.00004
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855 0.00004
NM_017617.5(NOTCH1):c.4587-6C>T rs368601709 0.00004
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102 0.00004
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285 0.00004
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=) rs370200858 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754 0.00004
NM_017617.5(NOTCH1):c.5384+10C>T rs748380110 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737 0.00004
NM_017617.5(NOTCH1):c.5473-6A>G rs367958280 0.00004
NM_017617.5(NOTCH1):c.5485G>A (p.Val1829Met) rs765486614 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 0.00004
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 0.00004
NM_017617.5(NOTCH1):c.5638+7G>C rs747630187 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494 0.00004
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425 0.00004
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588 0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640 0.00004
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) rs756874994 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=) rs746762310 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6540G>A (p.Arg2180=) rs549193636 0.00004
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166 0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) rs61751491 0.00004
NM_017617.5(NOTCH1):c.6750G>A (p.Ala2250=) rs758285863 0.00004
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254 0.00004
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740 0.00004
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu) rs767435492 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.7401G>A (p.Ser2467=) rs371306178 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042 0.00004
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile) rs1052013977 0.00004
NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=) rs370124241 0.00004
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=) rs759443061 0.00004
NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr) rs1217015143 0.00004
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556 0.00004
NM_017617.5(NOTCH1):c.865+10C>T rs760702631 0.00004
NM_017617.5(NOTCH1):c.865+16G>A rs199828787 0.00004
NM_017617.5(NOTCH1):c.924C>T (p.Asn308=) rs765208754 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.155+7T>C rs200849840 0.00004
NM_018062.4(FANCL):c.208G>A (p.Val70Ile) rs758754024 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile) rs371154063 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 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_018062.4(FANCL):c.739A>G (p.Met247Val) rs561027973 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_018486.3(HDAC8):c.522C>T (p.Tyr174=) rs146015223 0.00004
NM_018486.3(HDAC8):c.834C>T (p.Asn278=) rs781878660 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.2385C>T (p.Ala795=) rs142446452 0.00004
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) rs373111608 0.00004
NM_020436.5(SALL4):c.594G>A (p.Ala198=) rs377028033 0.00004
NM_020937.4(FANCM):c.1051-12C>T rs374855389 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.1752G>A (p.Arg584=) rs373696744 0.00004
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter) rs773014744 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.231C>T (p.Thr77=) rs377164876 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.3405G>T (p.Leu1135=) rs1318683898 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.3882T>C (p.Val1294=) rs774984454 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.5340+1G>T rs754297345 0.00004
NM_020937.4(FANCM):c.5532A>G (p.Gln1844=) rs970724368 0.00004
NM_020937.4(FANCM):c.5545C>A (p.Pro1849Thr) rs1359477676 0.00004
NM_020937.4(FANCM):c.5919C>A (p.Leu1973=) rs368568579 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_021922.3(FANCE):c.1027C>T (p.Arg343Trp) rs567313440 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_021922.3(FANCE):c.1238-13G>C rs756557647 0.00004
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg) rs996436646 0.00004
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_021922.3(FANCE):c.312C>T (p.Ala104=) rs575747751 0.00004
NM_021922.3(FANCE):c.499C>T (p.Leu167=) rs140563583 0.00004
NM_021922.3(FANCE):c.84C>T (p.Leu28=) rs1160645936 0.00004
NM_021922.3(FANCE):c.856-11C>G rs756018135 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_022725.4(FANCF):c.1048C>T (p.Leu350Phe) rs368170054 0.00004
NM_022725.4(FANCF):c.126C>T (p.Arg42=) rs764431374 0.00004
NM_022725.4(FANCF):c.360C>T (p.Gly120=) rs775422716 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.714C>T (p.Val238=) rs774956968 0.00004
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys) rs145666363 0.00004
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=) rs1331582263 0.00004
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=) rs56273573 0.00004
NM_023110.3(FGFR1):c.1431-6C>T rs375706016 0.00004
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met) rs752601407 0.00004
NM_023110.3(FGFR1):c.2187-5C>T rs770230705 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=) rs780308433 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.333C>T (p.Thr111=) rs771522317 0.00004
NM_023110.3(FGFR1):c.449-8C>A rs551551806 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 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_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_023110.3(FGFR1):c.937-4C>T rs777156333 0.00004
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe) rs770306753 0.00004
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn) rs759835916 0.00004
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=) rs775431508 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=) rs142572387 0.00004
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_032043.3(BRIP1):c.2097+20T>G rs771066665 0.00004
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu) rs748616469 0.00004
NM_032043.3(BRIP1):c.2193A>G (p.Glu731=) rs781712098 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=) rs776990704 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.400C>A (p.Leu134Met) rs876658195 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.69G>A (p.Pro23=) rs45458996 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.162C>A (p.Leu54=) rs776979024 0.00004
NM_032444.4(SLX4):c.1662C>T (p.Leu554=) rs375996119 0.00004
NM_032444.4(SLX4):c.1740C>T (p.Ser580=) rs200354014 0.00004
NM_032444.4(SLX4):c.1764C>T (p.His588=) rs201638593 0.00004
NM_032444.4(SLX4):c.1824G>A (p.Glu608=) rs1028896815 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.2046C>T (p.Gly682=) rs762708132 0.00004
NM_032444.4(SLX4):c.2193C>T (p.Asp731=) rs551541558 0.00004
NM_032444.4(SLX4):c.2340T>C (p.Ser780=) rs935117725 0.00004
NM_032444.4(SLX4):c.2346C>T (p.Leu782=) rs775150046 0.00004
NM_032444.4(SLX4):c.246C>T (p.Asn82=) rs1021522087 0.00004
NM_032444.4(SLX4):c.2490G>A (p.Ala830=) rs753595071 0.00004
NM_032444.4(SLX4):c.2500T>C (p.Leu834=) rs755984266 0.00004
NM_032444.4(SLX4):c.2613G>A (p.Ala871=) rs549139986 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.3012C>T (p.Pro1004=) rs533668167 0.00004
NM_032444.4(SLX4):c.3108A>G (p.Leu1036=) rs751431046 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.3782C>T (p.Pro1261Leu) rs374056556 0.00004
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met) rs373107728 0.00004
NM_032444.4(SLX4):c.3873G>A (p.Thr1291=) rs751302297 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.4446C>T (p.Cys1482=) rs1331923595 0.00004
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796 0.00004
NM_032444.4(SLX4):c.4637-17T>G rs112687420 0.00004
NM_032444.4(SLX4):c.4740-19C>T rs770943153 0.00004
NM_032444.4(SLX4):c.4740-5G>A rs372656323 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.4857G>A (p.Pro1619=) rs146423772 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.535+8G>C rs1438562094 0.00004
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His) rs560381786 0.00004
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191 0.00004
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn) rs760435859 0.00004
NM_032444.4(SLX4):c.5427C>T (p.Thr1809=) rs999815509 0.00004
NM_032444.4(SLX4):c.570T>G (p.Pro190=) rs764067884 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_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_032634.4(PIGO):c.1224G>A (p.Gln408=) rs765426156 0.00004
NM_032634.4(PIGO):c.1298G>A (p.Arg433Gln) rs201911029 0.00004
NM_032634.4(PIGO):c.1456C>T (p.Pro486Ser) rs766397462 0.00004
NM_032634.4(PIGO):c.1487C>T (p.Ala496Val) rs763688561 0.00004
NM_032634.4(PIGO):c.1810C>T (p.Arg604Cys) rs368997214 0.00004
NM_032634.4(PIGO):c.1841C>T (p.Pro614Leu) rs749184960 0.00004
NM_032634.4(PIGO):c.1843C>T (p.Arg615Trp) rs375787674 0.00004
NM_032634.4(PIGO):c.198A>C (p.Arg66=) rs140028855 0.00004
NM_032634.4(PIGO):c.2049C>T (p.Ala683=) rs561156571 0.00004
NM_032634.4(PIGO):c.2053C>T (p.Arg685Cys) rs138547909 0.00004
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) rs373305585 0.00004
NM_032634.4(PIGO):c.2421G>A (p.Glu807=) rs573261706 0.00004
NM_032634.4(PIGO):c.2522C>T (p.Thr841Ile) rs371089504 0.00004
NM_032634.4(PIGO):c.2807C>G (p.Ala936Gly) rs375724131 0.00004
NM_032634.4(PIGO):c.2839C>T (p.His947Tyr) rs769624406 0.00004
NM_032634.4(PIGO):c.2989C>T (p.Arg997Trp) rs773926580 0.00004
NM_032634.4(PIGO):c.3002C>T (p.Ala1001Val) rs149391665 0.00004
NM_032634.4(PIGO):c.3096C>T (p.Ser1032=) rs754771965 0.00004
NM_032634.4(PIGO):c.3104G>A (p.Arg1035His) rs763001837 0.00004
NM_032634.4(PIGO):c.3230G>C (p.Ser1077Thr) rs150257961 0.00004
NM_032634.4(PIGO):c.325A>T (p.Arg109Trp) rs144631345 0.00004
NM_032634.4(PIGO):c.339T>G (p.Ile113Met) rs370330559 0.00004
NM_032634.4(PIGO):c.34T>C (p.Trp12Arg) rs779967894 0.00004
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln) rs756043994 0.00004
NM_032634.4(PIGO):c.401G>A (p.Arg134His) rs754686515 0.00004
NM_032634.4(PIGO):c.468C>T (p.His156=) rs374876329 0.00004
NM_032634.4(PIGO):c.575A>G (p.Lys192Arg) rs138004232 0.00004
NM_032634.4(PIGO):c.789G>A (p.Val263=) rs750328169 0.00004
NM_032634.4(PIGO):c.900G>A (p.Leu300=) rs575290480 0.00004
NM_032634.4(PIGO):c.90C>T (p.Leu30=) rs145530412 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 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.546T>G (p.Leu182=) rs1476282276 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 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_130468.4(CHST14):c.111G>C (p.Pro37=) rs746603977 0.00004
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro) rs1352733612 0.00004
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe) rs755535418 0.00004
NM_130468.4(CHST14):c.315G>A (p.Arg105=) rs903042632 0.00004
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) rs368203130 0.00004
NM_130468.4(CHST14):c.869C>T (p.Ala290Val) rs763074027 0.00004
NM_130468.4(CHST14):c.891C>G (p.Gly297=) rs772809123 0.00004
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp) rs927457735 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.2120G>T (p.Gly707Val) rs768620796 0.00004
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=) rs188565385 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.3481C>T (p.Pro1161Ser) rs557147929 0.00004
NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys) rs149451089 0.00004
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys) rs774109272 0.00004
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=) rs369177620 0.00004
NM_133433.4(NIPBL):c.6343+10A>G rs767173489 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_133433.4(NIPBL):c.948A>G (p.Leu316=) rs201213428 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.1530G>A (p.Leu510=) rs750953517 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913 0.00004
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.3058-4G>A rs1490949079 0.00004
NM_147127.5(EVC2):c.30C>T (p.Pro10=) rs1193570001 0.00004
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=) rs770163191 0.00004
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=) rs756880962 0.00004
NM_147127.5(EVC2):c.3192G>A (p.Val1064=) rs755786659 0.00004
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=) rs776832054 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827 0.00004
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=) rs772566880 0.00004
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234 0.00004
NM_147127.5(EVC2):c.732C>T (p.Tyr244=) rs765159349 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_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.279G>A (p.Ser93=) rs373072919 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_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277 0.00004
NM_153717.3(EVC):c.906G>A (p.Lys302=) rs368231289 0.00004
NM_173660.5(DOK7):c.1023C>T (p.Ala341=) rs773612095 0.00004
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser) rs760412846 0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr) rs753026831 0.00004
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly) rs771017173 0.00004
NM_173660.5(DOK7):c.1386C>T (p.Ser462=) rs776733631 0.00004
NM_173660.5(DOK7):c.257C>T (p.Ala86Val) rs575986565 0.00004
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) rs377554325 0.00004
NM_173660.5(DOK7):c.54+10C>T rs1260785223 0.00004
NM_173660.5(DOK7):c.541G>A (p.Val181Ile) rs146076204 0.00004
NM_173660.5(DOK7):c.652+14C>G rs368188578 0.00004
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp) rs140544446 0.00004
NM_173660.5(DOK7):c.772+20T>C rs376466543 0.00004
NM_173660.5(DOK7):c.773-7G>A rs775008753 0.00004
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu) rs763936252 0.00004
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu) rs748566350 0.00004
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala) rs143821601 0.00004
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr) rs754476094 0.00004
NM_000079.4(CHRNA1):c.1088C>T (p.Thr363Ile) rs146771663 0.00003
NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys) rs199545638 0.00003
NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=) rs776420240 0.00003
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val) rs146464862 0.00003
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_000079.4(CHRNA1):c.488G>C (p.Ser163Thr) rs375645058 0.00003
NM_000079.4(CHRNA1):c.801C>T (p.Ile267=) rs1397059147 0.00003
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) rs746404398 0.00003
NM_000135.4(FANCA):c.1006+19C>A rs371384565 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.1084-8T>C rs1466884693 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.135A>G (p.Glu45=) rs141820040 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.1593C>T (p.Tyr531=) rs762342197 0.00003
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344 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.1901-9T>C rs886052486 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.2014+12T>A rs370998253 0.00003
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) rs777032467 0.00003
NM_000135.4(FANCA):c.2222+9G>C rs774316742 0.00003
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys) rs1354855145 0.00003
NM_000135.4(FANCA):c.2317-7G>A rs763945801 0.00003
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val) rs756082739 0.00003
NM_000135.4(FANCA):c.2504+12T>C rs1299971836 0.00003
NM_000135.4(FANCA):c.2661C>T (p.Asp887=) rs145941808 0.00003
NM_000135.4(FANCA):c.2847T>C (p.Thr949=) rs570751234 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.2964G>C (p.Leu988=) rs751495133 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.3024T>C (p.Phe1008=) rs970239067 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3240-4C>G rs778933108 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.3349-19G>T rs377180908 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.3514-17T>C rs1183051961 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.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) rs780031277 0.00003
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=) rs371798854 0.00003
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229 0.00003
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser) rs374945563 0.00003
NM_000135.4(FANCA):c.3924G>A (p.Leu1308=) rs775127240 0.00003
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr) rs925649874 0.00003
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly) rs778544563 0.00003
NM_000135.4(FANCA):c.4038G>A (p.Ala1346=) rs755479861 0.00003
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser) rs750839091 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.426+13C>T rs755598667 0.00003
NM_000135.4(FANCA):c.4365C>T (p.Phe1455=) rs1440013855 0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881 0.00003
NM_000135.4(FANCA):c.522+9G>C rs113051956 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000135.4(FANCA):c.576C>T (p.Ser192=) rs150448150 0.00003
NM_000135.4(FANCA):c.596+12A>G rs377151927 0.00003
NM_000135.4(FANCA):c.793-10A>T rs368979136 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000136.3(FANCC):c.1073-20G>A rs781438798 0.00003
NM_000136.3(FANCC):c.111C>T (p.His37=) rs751219956 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 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.1353C>T (p.Gly451=) rs745338413 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.165+8del rs1281745385 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.528T>C (p.Ala176=) rs1237481707 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.906C>G (p.Leu302=) rs766079351 0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316 0.00003
NM_000751.3(CHRND):c.1100A>G (p.Asp367Gly) rs770099656 0.00003
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln) rs563035306 0.00003
NM_000751.3(CHRND):c.1255C>T (p.Arg419Trp) rs140455307 0.00003
NM_000751.3(CHRND):c.178C>A (p.Leu60Ile) rs200743096 0.00003
NM_000751.3(CHRND):c.353+14C>G rs765810417 0.00003
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp) rs777271963 0.00003
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys) rs376642208 0.00003
NM_000751.3(CHRND):c.882C>T (p.Leu294=) rs1178183798 0.00003
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) rs143585647 0.00003
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His) rs776805534 0.00003
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=) rs753355273 0.00003
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=) rs1232908863 0.00003
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly) rs1041477988 0.00003
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met) rs775216604 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_001018113.3(FANCB):c.7A>G (p.Ser3Gly) rs139111718 0.00003
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg) rs748171507 0.00003
NM_001018115.3(FANCD2):c.1221T>C (p.Ile407=) rs745305575 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.1766+7G>A rs563561289 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.2196G>A (p.Pro732=) rs200848801 0.00003
NM_001018115.3(FANCD2):c.2238C>T (p.Asn746=) rs35817402 0.00003
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser) rs758718558 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.273+14C>T rs749849880 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.3466+9C>G rs33998487 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.65-18A>C rs747412191 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_001113378.2(FANCI):c.1102G>A (p.Val368Met) rs1060501897 0.00003
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=) rs780568718 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.1699-11C>T rs753750358 0.00003
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) rs779310267 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) rs143105092 0.00003
NM_001113378.2(FANCI):c.1993-6C>T rs1419780732 0.00003
NM_001113378.2(FANCI):c.2170-6T>C rs764818761 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.2349C>T (p.Asp783=) rs768234660 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.2803+15A>T rs372343510 0.00003
NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln) rs201553891 0.00003
NM_001113378.2(FANCI):c.2907A>C (p.Leu969Phe) rs568094959 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.3622_3623del (p.Leu1208fs) rs1491132258 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.445+19T>C rs1340366575 0.00003
NM_001113378.2(FANCI):c.446-9C>T rs761356536 0.00003
NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn) rs574154974 0.00003
NM_001113378.2(FANCI):c.579T>C (p.Phe193=) rs746361181 0.00003
NM_001113378.2(FANCI):c.595T>C (p.Leu199=) rs373954813 0.00003
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_001113378.2(FANCI):c.883-9C>T rs563201817 0.00003
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys) rs554274233 0.00003
NM_001271938.2(MEGF8):c.1707C>T (p.Ser569=) rs201780276 0.00003
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg) rs754432292 0.00003
NM_001271938.2(MEGF8):c.2961C>T (p.His987=) rs760802467 0.00003
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu) rs768036287 0.00003
NM_001271938.2(MEGF8):c.3648C>T (p.His1216=) rs144358189 0.00003
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu) rs757227265 0.00003
NM_001271938.2(MEGF8):c.5556C>T (p.Arg1852=) rs756300122 0.00003
NM_001271938.2(MEGF8):c.5601G>C (p.Leu1867=) rs772768540 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.5907T>C (p.Asn1969=) rs751281117 0.00003
NM_001271938.2(MEGF8):c.6093C>T (p.Thr2031=) rs992577271 0.00003
NM_001271938.2(MEGF8):c.6705C>T (p.Pro2235=) rs149735243 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_001278689.2(EOGT):c.515+7T>A rs764750079 0.00003
NM_001346754.2(PIGW):c.1404A>G (p.Thr468=) rs149579850 0.00003
NM_001346754.2(PIGW):c.152C>T (p.Pro51Leu) rs112443711 0.00003
NM_001346754.2(PIGW):c.431T>G (p.Ile144Ser) rs754061279 0.00003
NM_001346754.2(PIGW):c.647G>A (p.Arg216Gln) rs764219730 0.00003
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133 0.00003
NM_001374353.1(GLI2):c.131C>T (p.Ala44Val) rs200095340 0.00003
NM_001374353.1(GLI2):c.1633-5C>T rs551256208 0.00003
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=) rs139202322 0.00003
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=) rs565184396 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.2486C>T (p.Pro829Leu) rs761090665 0.00003
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr) rs751028726 0.00003
NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=) rs369264013 0.00003
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His) rs201523549 0.00003
NM_001374353.1(GLI2):c.4440C>T (p.Ser1480=) rs1403391073 0.00003
NM_001374353.1(GLI2):c.677G>A (p.Arg226His) rs766283583 0.00003
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345 0.00003
NM_001429.4(EP300):c.1528+15T>C rs200147263 0.00003
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793 0.00003
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001429.4(EP300):c.2744G>A (p.Arg915His) rs748820220 0.00003
NM_001429.4(EP300):c.4172+16A>G rs777335301 0.00003
NM_001429.4(EP300):c.545A>G (p.Asn182Ser) rs201487387 0.00003
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555 0.00003
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp) rs762615993 0.00003
NM_001999.4(FBN2):c.1410C>A (p.Gly470=) rs750103822 0.00003
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val) rs56312356 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.186G>A (p.Glu62=) rs759839753 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.2258A>G (p.His753Arg) rs777266350 0.00003
NM_001999.4(FBN2):c.244G>A (p.Val82Met) rs550387143 0.00003
NM_001999.4(FBN2):c.2634G>A (p.Ser878=) rs143905167 0.00003
NM_001999.4(FBN2):c.2674+10A>G rs371734006 0.00003
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689 0.00003
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=) rs142809999 0.00003
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569 0.00003
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=) rs374833053 0.00003
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981 0.00003
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964 0.00003
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314 0.00003
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=) rs372613935 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala) rs28763942 0.00003
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=) rs773650336 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=) rs144018137 0.00003
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=) rs756084999 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser) rs1085307788 0.00003
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp) rs1476723489 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_001999.4(FBN2):c.5548+20T>C rs372334617 0.00003
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser) rs780989245 0.00003
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr) rs546148828 0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=) rs752114619 0.00003
NM_001999.4(FBN2):c.629-19T>C rs374428361 0.00003
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=) rs552637321 0.00003
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn) rs370650204 0.00003
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys) rs1450302477 0.00003
NM_001999.4(FBN2):c.6909C>T (p.His2303=) rs762440824 0.00003
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=) rs145809024 0.00003
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg) rs747305733 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=) rs370851605 0.00003
NM_001999.4(FBN2):c.8192+7C>T rs376135657 0.00003
NM_001999.4(FBN2):c.81C>T (p.Ala27=) rs746484599 0.00003
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421 0.00003
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser) rs372206279 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799 0.00003
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169 0.00003
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) rs368744612 0.00003
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) rs374136996 0.00003
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val) rs761341366 0.00003
NM_002334.4(LRP4):c.1368C>T (p.His456=) rs570223328 0.00003
NM_002334.4(LRP4):c.1433G>A (p.Arg478His) rs1349507715 0.00003
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg) rs1389594811 0.00003
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu) rs886048355 0.00003
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val) rs373683358 0.00003
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg) rs754071316 0.00003
NM_002334.4(LRP4):c.3136+10A>G rs377543577 0.00003
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln) rs772332690 0.00003
NM_002334.4(LRP4):c.3344A>G (p.His1115Arg) rs758144252 0.00003
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met) rs751933622 0.00003
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=) rs570258125 0.00003
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=) rs377557349 0.00003
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu) rs749792822 0.00003
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=) rs751449110 0.00003
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=) rs952249452 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn) rs200746048 0.00003
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp) rs766025454 0.00003
NM_002334.4(LRP4):c.4517G>A (p.Arg1506Gln) rs142300637 0.00003
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00003
NM_002334.4(LRP4):c.501C>T (p.Cys167=) rs369739623 0.00003
NM_002334.4(LRP4):c.504C>T (p.Asp168=) rs749048211 0.00003
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) rs1035754612 0.00003
NM_002334.4(LRP4):c.5385+13A>G rs370288647 0.00003
NM_002334.4(LRP4):c.768T>C (p.Cys256=) rs774343834 0.00003
NM_002334.4(LRP4):c.825C>A (p.Phe275Leu) rs772586265 0.00003
NM_002334.4(LRP4):c.842G>A (p.Arg281His) rs146670859 0.00003
NM_002334.4(LRP4):c.968G>A (p.Arg323His) rs745607286 0.00003
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966 0.00003
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) rs535981732 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 0.00003
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg) rs767612617 0.00003
NM_002968.3(SALL1):c.39A>G (p.Gln13=) rs768989589 0.00003
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) rs756723612 0.00003
NM_003289.4(TPM2):c.241-7C>A rs759898332 0.00003
NM_003289.4(TPM2):c.563+12C>T rs185397376 0.00003
NM_003289.4(TPM2):c.564-19C>G rs1374322376 0.00003
NM_003289.4(TPM2):c.618C>A (p.Ser206=) rs370079073 0.00003
NM_003334.4(UBA1):c.1077A>C (p.Val359=) rs782342123 0.00003
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln) rs781909775 0.00003
NM_003334.4(UBA1):c.1152G>A (p.Arg384=) rs782140095 0.00003
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala) rs1556788859 0.00003
NM_003334.4(UBA1):c.1576-19C>T rs782315217 0.00003
NM_003334.4(UBA1):c.1683T>C (p.Asp561=) rs781873529 0.00003
NM_003334.4(UBA1):c.176+18C>T rs782702800 0.00003
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_003334.4(UBA1):c.2275-7C>T rs782291288 0.00003
NM_003334.4(UBA1):c.2359G>A (p.Val787Met) rs1204889932 0.00003
NM_003334.4(UBA1):c.2391C>T (p.Pro797=) rs1556793279 0.00003
NM_003334.4(UBA1):c.2661A>G (p.Ala887=) rs782783941 0.00003
NM_003334.4(UBA1):c.2838+17G>A rs1467681554 0.00003
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys) rs1466232811 0.00003
NM_003334.4(UBA1):c.2913C>T (p.Thr971=) rs782810108 0.00003
NM_003334.4(UBA1):c.2982G>T (p.Val994=) rs782156608 0.00003
NM_003334.4(UBA1):c.31C>T (p.Arg11Cys) rs1556786387 0.00003
NM_003334.4(UBA1):c.436G>A (p.Ala146Thr) rs781969406 0.00003
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala) rs782084400 0.00003
NM_003334.4(UBA1):c.733G>A (p.Gly245Arg) rs781803482 0.00003
NM_003334.4(UBA1):c.852C>T (p.Ser284=) rs781839047 0.00003
NM_003334.4(UBA1):c.910-8C>T rs374197052 0.00003
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys) rs200206019 0.00003
NM_004380.3(CREBBP):c.1026A>G (p.Thr342=) rs751666077 0.00003
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=) rs138353979 0.00003
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=) rs1028648371 0.00003
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His) rs141098117 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu) rs766086544 0.00003
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser) rs779479811 0.00003
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr) rs200673670 0.00003
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser) rs200673670 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.4560+7G>C rs587783498 0.00003
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=) rs770241645 0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5169C>T (p.Cys1723=) rs146718571 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.5970C>T (p.Thr1990=) rs773118274 0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=) rs1348561145 0.00003
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu) rs765821935 0.00003
NM_004380.3(CREBBP):c.675G>A (p.Pro225=) rs140708841 0.00003
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val) rs727503892 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_004629.2(FANCG):c.1062C>T (p.Cys354=) rs745928033 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.1704T>C (p.Thr568=) rs759675304 0.00003
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr) rs200466062 0.00003
NM_004629.2(FANCG):c.1758G>T (p.Leu586=) rs549578835 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.867C>T (p.Leu289=) rs755031729 0.00003
NM_004629.2(FANCG):c.927C>T (p.Ala309=) rs370002843 0.00003
NM_004629.2(FANCG):c.934G>A (p.Val312Ile) rs530535955 0.00003
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=) rs565321918 0.00003
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) rs762532220 0.00003
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys) rs201197735 0.00003
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr) rs145197671 0.00003
NM_005055.5(RAPSN):c.246C>T (p.Leu82=) rs780420252 0.00003
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val) rs543224303 0.00003
NM_005055.5(RAPSN):c.567G>A (p.Ala189=) rs886043559 0.00003
NM_005055.5(RAPSN):c.705C>T (p.Ile235=) rs562539081 0.00003
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr) rs545915312 0.00003
NM_005055.5(RAPSN):c.717C>T (p.His239=) rs576729861 0.00003
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) rs780963721 0.00003
NM_005055.5(RAPSN):c.729A>G (p.Pro243=) rs1297914613 0.00003
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) rs768011436 0.00003
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg) rs778371396 0.00003
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val) rs760068830 0.00003
NM_005055.5(RAPSN):c.966+16G>A rs759757902 0.00003
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys) rs144602005 0.00003
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=) rs760367072 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=) rs367595904 0.00003
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00003
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) rs565249189 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.69G>A (p.Val23=) rs201606798 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_005445.4(SMC3):c.1410-20G>A rs772063912 0.00003
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys) rs773285595 0.00003
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr) rs368044285 0.00003
NM_005592.4(MUSK):c.1385-3C>T rs775863015 0.00003
NM_005592.4(MUSK):c.1583A>C (p.Lys528Thr) rs776545636 0.00003
NM_005592.4(MUSK):c.2111G>A (p.Cys704Tyr) rs577931355 0.00003
NM_005592.4(MUSK):c.2300G>A (p.Arg767His) rs370079610 0.00003
NM_005592.4(MUSK):c.230T>C (p.Ile77Thr) rs547322569 0.00003
NM_005592.4(MUSK):c.2406C>T (p.Pro802=) rs1444464544 0.00003
NM_005592.4(MUSK):c.468G>C (p.Lys156Asn) rs187347916 0.00003
NM_005592.4(MUSK):c.754-6T>A rs762500701 0.00003
NM_006147.4(IRF6):c.351T>G (p.Pro117=) rs550521875 0.00003
NM_006147.4(IRF6):c.888C>T (p.Asp296=) rs748882482 0.00003
NM_006265.3(RAD21):c.1237T>C (p.Leu413=) rs201779352 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_006265.3(RAD21):c.363G>C (p.Leu121=) rs959964243 0.00003
NM_006265.3(RAD21):c.741C>G (p.Ala247=) rs141798668 0.00003
NM_006265.3(RAD21):c.849C>T (p.Pro283=) rs369661655 0.00003
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048 0.00003
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=) rs782547781 0.00003
NM_006306.4(SMC1A):c.1566A>G (p.Leu522=) rs782191187 0.00003
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=) rs987473076 0.00003
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=) rs370873072 0.00003
NM_006306.4(SMC1A):c.2058+9C>G rs1356800269 0.00003
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00003
NM_006306.4(SMC1A):c.227A>G (p.Asn76Ser) rs200243549 0.00003
NM_006306.4(SMC1A):c.2421-20C>T rs1282673050 0.00003
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr) rs1034852654 0.00003
NM_006306.4(SMC1A):c.2973+16_2973+17del rs782659050 0.00003
NM_006306.4(SMC1A):c.3618+8G>A rs782319907 0.00003
NM_006306.4(SMC1A):c.412-14T>G rs782106342 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_006306.4(SMC1A):c.594A>G (p.Glu198=) rs1556890814 0.00003
NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr) rs775651587 0.00003
NM_012243.3(SLC35A3):c.301C>T (p.Leu101=) rs374410007 0.00003
NM_012243.3(SLC35A3):c.543A>T (p.Thr181=) rs746093643 0.00003
NM_012243.3(SLC35A3):c.765C>T (p.Gly255=) rs1226277790 0.00003
NM_012243.3(SLC35A3):c.888-6A>G rs911464311 0.00003
NM_013352.4(DSE):c.1140G>A (p.Ser380=) rs756171586 0.00003
NM_013352.4(DSE):c.136C>T (p.Leu46=) rs754023509 0.00003
NM_013352.4(DSE):c.753G>A (p.Thr251=) rs769250716 0.00003
NM_014918.5(CHSY1):c.1198G>A (p.Ala400Thr) rs573681382 0.00003
NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg) rs1315448986 0.00003
NM_014918.5(CHSY1):c.253A>G (p.Asn85Asp) rs762384442 0.00003
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 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.1446C>T (p.Tyr482=) rs757373430 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.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.1845G>A (p.Gly615=) rs1442503672 0.00003
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016 0.00003
NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser) rs769696527 0.00003
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro) rs752513330 0.00003
NM_017617.5(NOTCH1):c.1988A>T (p.Glu663Val) rs1468283318 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys) rs746213819 0.00003
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=) rs763414200 0.00003
NM_017617.5(NOTCH1):c.225C>T (p.His75=) rs776616401 0.00003
NM_017617.5(NOTCH1):c.2354-14C>A rs376797282 0.00003
NM_017617.5(NOTCH1):c.2379C>T (p.Asn793=) rs200565505 0.00003
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) rs544653892 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.246G>C (p.Val82=) rs1055942607 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.2588-5C>T rs764684418 0.00003
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563 0.00003
NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg) rs764327751 0.00003
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) rs557590721 0.00003
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn) rs763217096 0.00003
NM_017617.5(NOTCH1):c.2895C>T (p.Asp965=) rs769901855 0.00003
NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met) rs756840659 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn) rs772134978 0.00003
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro) rs1408874772 0.00003
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532 0.00003
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) rs758471372 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3354T>C (p.His1118=) rs754633274 0.00003
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) rs773375573 0.00003
NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg) rs777194812 0.00003
NM_017617.5(NOTCH1):c.362C>T (p.Thr121Met) rs529738206 0.00003
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570 0.00003
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251 0.00003
NM_017617.5(NOTCH1):c.3644-18C>T rs575836415 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.3724G>A (p.Gly1242Ser) rs558191127 0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772 0.00003
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862 0.00003
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771 0.00003
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017617.5(NOTCH1):c.4356C>T (p.Pro1452=) rs770281345 0.00003
NM_017617.5(NOTCH1):c.4393C>T (p.Leu1465=) rs779863069 0.00003
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val) rs376799353 0.00003
NM_017617.5(NOTCH1):c.4596C>T (p.Tyr1532=) rs751774685 0.00003
NM_017617.5(NOTCH1):c.4671C>T (p.Asp1557=) rs757602593 0.00003
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=) rs377357743 0.00003
NM_017617.5(NOTCH1):c.474C>T (p.Phe158=) rs774011231 0.00003
NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=) rs558708604 0.00003
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158 0.00003
NM_017617.5(NOTCH1):c.5019C>G (p.Gly1673=) rs754785324 0.00003
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176 0.00003
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=) rs201797774 0.00003
NM_017617.5(NOTCH1):c.5154C>T (p.Ile1718=) rs755764089 0.00003
NM_017617.5(NOTCH1):c.5168-11C>T rs756486803 0.00003
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) rs758562368 0.00003
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp) rs575513935 0.00003
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) rs760147171 0.00003
NM_017617.5(NOTCH1):c.5384+7G>A rs374235818 0.00003
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser) rs369526652 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.5499C>T (p.Asp1833=) rs754075361 0.00003
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr) rs375102032 0.00003
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) rs779880917 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His) rs771407924 0.00003
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138 0.00003
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=) rs762092431 0.00003
NM_017617.5(NOTCH1):c.6082+19G>A rs780533166 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) rs759344174 0.00003
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966 0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624 0.00003
NM_017617.5(NOTCH1):c.6270G>A (p.Thr2090=) rs755970286 0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928 0.00003
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val) rs748138179 0.00003
NM_017617.5(NOTCH1):c.6351C>A (p.Asn2117Lys) rs755509796 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.6665C>T (p.Pro2222Leu) rs779125725 0.00003
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894 0.00003
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) rs1163673587 0.00003
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) rs370652630 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 0.00003
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met) rs574436740 0.00003
NM_017617.5(NOTCH1):c.742+20G>A rs754496640 0.00003
NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=) rs748244353 0.00003
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr) rs779039862 0.00003
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003 0.00003
NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His) rs754570072 0.00003
NM_017617.5(NOTCH1):c.870G>A (p.Gln290=) rs779434286 0.00003
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) rs753681098 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.374+13T>C rs776463455 0.00003
NM_018062.4(FANCL):c.375-13C>T rs761490451 0.00003
NM_018062.4(FANCL):c.375-6C>T rs773848254 0.00003
NM_018062.4(FANCL):c.471+12G>A rs369756342 0.00003
NM_018062.4(FANCL):c.822-13C>T rs756047554 0.00003
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys) rs376528147 0.00003
NM_018062.4(FANCL):c.948C>T (p.Asp316=) rs1409256364 0.00003
NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn) rs373083907 0.00003
NM_018486.3(HDAC8):c.372A>G (p.Gln124=) rs141306915 0.00003
NM_018486.3(HDAC8):c.915C>G (p.Gly305=) rs782121649 0.00003
NM_018486.3(HDAC8):c.984C>T (p.Ser328=) rs782234700 0.00003
NM_020436.5(SALL4):c.216C>T (p.His72=) rs138604469 0.00003
NM_020436.5(SALL4):c.2462-12T>C rs770440198 0.00003
NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) rs943513953 0.00003
NM_020436.5(SALL4):c.3153G>A (p.Ala1051=) rs142551587 0.00003
NM_020937.4(FANCM):c.1029A>G (p.Lys343=) rs777761113 0.00003
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln) rs140744346 0.00003
NM_020937.4(FANCM):c.1397-4A>G rs765857460 0.00003
NM_020937.4(FANCM):c.1602C>T (p.Asp534=) rs201951080 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.1788+19A>G rs373941822 0.00003
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) rs777379515 0.00003
NM_020937.4(FANCM):c.2240A>G (p.His747Arg) rs181827583 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.3112C>T (p.Leu1038=) rs566514015 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.4270C>T (p.Arg1424Ter) rs751954386 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.4515+10T>C rs747493198 0.00003
NM_020937.4(FANCM):c.4578T>G (p.Val1526=) rs368982372 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.4672+11T>C rs778527745 0.00003
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp) rs919256712 0.00003
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=) rs150389713 0.00003
NM_020937.4(FANCM):c.5409T>C (p.Ala1803=) rs141214060 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.5745A>G (p.Thr1915=) rs535316621 0.00003
NM_020937.4(FANCM):c.5772C>A (p.Thr1924=) rs377475907 0.00003
NM_020937.4(FANCM):c.5823C>T (p.Thr1941=) rs766031579 0.00003
NM_020937.4(FANCM):c.5898T>C (p.Asn1966=) rs780323169 0.00003
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=) rs949619907 0.00003
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) rs756119280 0.00003
NM_020937.4(FANCM):c.6127A>C (p.Arg2043=) rs746223444 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_021922.3(FANCE):c.1086G>C (p.Val362=) rs146571065 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 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.1200C>T (p.Ser400=) rs752689765 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.1509+19T>C rs760565814 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.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_022725.4(FANCF):c.1002G>C (p.Ala334=) rs761698961 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.234G>A (p.Pro78=) rs144503236 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.1319G>A (p.Gly440Glu) rs372654433 0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) rs777345476 0.00003
NM_023110.3(FGFR1):c.1663+9C>T rs557754125 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_023110.3(FGFR1):c.2049-12G>A rs563601371 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_023110.3(FGFR1):c.92-20C>T rs559825541 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.1257G>A (p.Arg419=) rs148429663 0.00003
NM_032043.3(BRIP1):c.1314A>G (p.Leu438=) rs1291435424 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.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.1794+19T>C rs752328575 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.2100A>G (p.Leu700=) rs766047812 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032043.3(BRIP1):c.2492+8G>C rs772953115 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.2748C>T (p.Tyr916=) rs555200296 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.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 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.379+4_379+5del rs773332695 0.00003
NM_032043.3(BRIP1):c.628-16C>A rs770648312 0.00003
NM_032043.3(BRIP1):c.672A>G (p.Gly224=) rs752356873 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_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.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.1881G>A (p.Pro627=) rs766325727 0.00003
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828 0.00003
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr) rs138124860 0.00003
NM_032444.4(SLX4):c.2097C>T (p.Ser699=) rs747941542 0.00003
NM_032444.4(SLX4):c.2124C>T (p.Phe708=) rs564042887 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.2787G>A (p.Pro929=) rs766824198 0.00003
NM_032444.4(SLX4):c.2940C>T (p.Ala980=) rs1415684146 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.3042G>A (p.Arg1014=) rs752948857 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.3106C>T (p.Leu1036=) rs781572774 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.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_032444.4(SLX4):c.4131G>A (p.Ser1377=) rs757513165 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg) rs376437029 0.00003
NM_032444.4(SLX4):c.4272C>T (p.Asp1424=) rs771297945 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.4485G>C (p.Ala1495=) rs140872903 0.00003
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu) rs370637700 0.00003
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=) rs1320958776 0.00003
NM_032444.4(SLX4):c.4686G>T (p.Pro1562=) rs752013105 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.5265G>A (p.Ala1755=) rs527440287 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.708G>A (p.Ala236=) rs765742613 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_032634.4(PIGO):c.1013G>A (p.Gly338Glu) rs749274989 0.00003
NM_032634.4(PIGO):c.1020C>T (p.Ile340=) rs777808521 0.00003
NM_032634.4(PIGO):c.1177C>T (p.Leu393Phe) rs748782878 0.00003
NM_032634.4(PIGO):c.1187T>A (p.Leu396Gln) rs146501297 0.00003
NM_032634.4(PIGO):c.1522C>G (p.Leu508Val) rs1398099043 0.00003
NM_032634.4(PIGO):c.157G>A (p.Gly53Arg) rs1361264867 0.00003
NM_032634.4(PIGO):c.1776C>G (p.Gly592=) rs752370056 0.00003
NM_032634.4(PIGO):c.1935A>G (p.Thr645=) rs138435332 0.00003
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys) rs571768342 0.00003
NM_032634.4(PIGO):c.2186C>T (p.Pro729Leu) rs140561049 0.00003
NM_032634.4(PIGO):c.2196C>T (p.Leu732=) rs779088175 0.00003
NM_032634.4(PIGO):c.2205G>T (p.Leu735=) rs565127635 0.00003
NM_032634.4(PIGO):c.2267C>T (p.Ala756Val) rs757452987 0.00003
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) rs140470862 0.00003
NM_032634.4(PIGO):c.2679G>A (p.Ser893=) rs376154801 0.00003
NM_032634.4(PIGO):c.2763C>T (p.Phe921=) rs150780733 0.00003
NM_032634.4(PIGO):c.2854+7C>A rs768338180 0.00003
NM_032634.4(PIGO):c.2909G>A (p.Arg970Gln) rs781623319 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_032634.4(PIGO):c.356G>A (p.Arg119Gln) rs753918558 0.00003
NM_032634.4(PIGO):c.54C>T (p.Tyr18=) rs773054712 0.00003
NM_032634.4(PIGO):c.655+6C>T rs901654668 0.00003
NM_032634.4(PIGO):c.662G>C (p.Ser221Thr) rs754088095 0.00003
NM_032634.4(PIGO):c.816G>A (p.Leu272=) rs760142386 0.00003
NM_032634.4(PIGO):c.942G>A (p.Glu314=) rs764488316 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.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.706-13C>G rs747406535 0.00003
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526 0.00003
NM_058216.3(RAD51C):c.783A>G (p.Leu261=) rs138643096 0.00003
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr) rs777575172 0.00003
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp) rs371189136 0.00003
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala) rs778069410 0.00003
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu) rs1321331803 0.00003
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152 0.00003
NM_133433.4(NIPBL):c.2555A>G (p.Asn852Ser) rs776280237 0.00003
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784 0.00003
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938 0.00003
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485 0.00003
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=) rs1356246775 0.00003
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) rs61755039 0.00003
NM_133433.4(NIPBL):c.458+18C>T rs759013143 0.00003
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=) rs756897581 0.00003
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His) rs770286768 0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018 0.00003
NM_147127.5(EVC2):c.1887-6A>G rs772186122 0.00003
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998 0.00003
NM_147127.5(EVC2):c.2501+20G>A rs371570790 0.00003
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013 0.00003
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.2994G>A (p.Glu998=) rs769447158 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.3272+16C>T rs200378678 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 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.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.3660-10A>G rs371900491 0.00003
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538 0.00003
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.888C>T (p.Gly296=) rs370515818 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_147127.5(EVC2):c.93C>T (p.Leu31=) rs1217842109 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1377G>A (p.Thr459=) rs138725840 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1563+11T>A rs1014470434 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.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.1798C>T (p.Leu600=) rs750023994 0.00003
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.231G>A (p.Ser77=) rs140615894 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.2529C>T (p.Gly843=) rs377066936 0.00003
NM_153717.3(EVC):c.2535T>C (p.His845=) rs773156946 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 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.771A>G (p.Leu257=) rs756340487 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) rs769643041 0.00003
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=) rs200284964 0.00003
NM_173660.5(DOK7):c.1083C>T (p.Asp361=) rs554026540 0.00003
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser) rs574663125 0.00003
NM_173660.5(DOK7):c.1262C>A (p.Pro421His) rs373261147 0.00003
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly) rs1390831169 0.00003
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu) rs1057518522 0.00003
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala) rs748438470 0.00003
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg) rs865879271 0.00003
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_173660.5(DOK7):c.332-6C>G rs1482072459 0.00003
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn) rs368106071 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_173660.5(DOK7):c.486C>T (p.Ala162=) rs371609452 0.00003
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser) rs762376200 0.00003
NM_173660.5(DOK7):c.54+3C>T rs1560200971 0.00003
NM_173660.5(DOK7):c.55-16C>T rs976572936 0.00003
NM_173660.5(DOK7):c.564G>A (p.Glu188=) rs375631042 0.00003
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr) rs1219693310 0.00003
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln) rs371408752 0.00003
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu) rs769699131 0.00003
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly) rs370967580 0.00003
NM_173660.5(DOK7):c.773-18C>T rs749706359 0.00003
NM_173660.5(DOK7):c.828C>T (p.Ser276=) rs772682276 0.00003
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly) rs754105518 0.00003
NM_173660.5(DOK7):c.864C>G (p.Ser288=) rs554816775 0.00003
NM_173660.5(DOK7):c.94G>A (p.Val32Met) rs1417673287 0.00003
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro) rs752168445 0.00003
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) rs200394790 0.00003
NM_000079.4(CHRNA1):c.1162A>C (p.Lys388Gln) rs202090282 0.00002
NM_000079.4(CHRNA1):c.1171G>A (p.Glu391Lys) rs762411124 0.00002
NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=) rs779379425 0.00002
NM_000079.4(CHRNA1):c.145G>A (p.Val49Met) rs1019158028 0.00002
NM_000079.4(CHRNA1):c.539C>T (p.Pro180Leu) rs373561258 0.00002
NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln) rs769337073 0.00002
NM_000079.4(CHRNA1):c.841G>A (p.Val281Met) rs764265345 0.00002
NM_000079.4(CHRNA1):c.895C>T (p.Leu299=) rs768256648 0.00002
NM_000079.4(CHRNA1):c.919G>A (p.Ala307Thr) rs550013897 0.00002
NM_000079.4(CHRNA1):c.942C>T (p.Ile314=) rs200535960 0.00002
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) rs762938254 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.1236G>A (p.Ala412=) rs371993688 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.1254A>G (p.Ala418=) rs757442919 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val) rs144234991 0.00002
NM_000135.4(FANCA):c.1359+13C>T rs754740338 0.00002
NM_000135.4(FANCA):c.1471-17C>T rs750970650 0.00002
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.1557C>T (p.Ala519=) rs765079866 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.1627-4C>A rs201163548 0.00002
NM_000135.4(FANCA):c.1627-7G>A rs1208978768 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.1716-19C>G rs372263763 0.00002
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val) rs775255736 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 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.1896A>G (p.Pro632=) rs776251919 0.00002
NM_000135.4(FANCA):c.190-20T>C rs755351504 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.1900+16G>A rs757981356 0.00002
NM_000135.4(FANCA):c.1959C>T (p.Leu653=) rs368643963 0.00002
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) rs889618840 0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00002
NM_000135.4(FANCA):c.2015-12C>T rs769141220 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.2151+20A>G rs374555419 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.228A>G (p.Lys76=) rs372180286 0.00002
NM_000135.4(FANCA):c.2317-10C>G rs757166295 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.2505-7T>C rs374909752 0.00002
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro) rs1017352035 0.00002
NM_000135.4(FANCA):c.2586A>C (p.Pro862=) rs765499572 0.00002
NM_000135.4(FANCA):c.2610C>T (p.Phe870=) rs201160735 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+18C>G rs368370420 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.2778+7G>A rs374581674 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.3348+19C>T rs200217850 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.3626+10G>C rs753929458 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val) rs576401459 0.00002
NM_000135.4(FANCA):c.3714G>A (p.Arg1238=) rs368437504 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.3876C>T (p.Leu1292=) rs878934420 0.00002
NM_000135.4(FANCA):c.393C>T (p.Thr131=) rs1217316233 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.427-20A>G rs755584134 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
NM_000135.4(FANCA):c.4299C>T (p.Ser1433=) rs568293451 0.00002
NM_000135.4(FANCA):c.492T>G (p.Leu164=) rs951810885 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.596+14G>A rs757255187 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.624G>A (p.Ser208=) rs922099383 0.00002
NM_000135.4(FANCA):c.667G>A (p.Ala223Thr) rs771195871 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 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.80-5C>T rs777687671 0.00002
NM_000135.4(FANCA):c.831A>G (p.Ala277=) rs773050347 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.888G>A (p.Arg296=) rs942855447 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_000135.4(FANCA):c.946C>T (p.Leu316=) rs775506986 0.00002
NM_000136.3(FANCC):c.-41A>G rs768624552 0.00002
NM_000136.3(FANCC):c.1002G>A (p.Arg334=) rs772717264 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.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000136.3(FANCC):c.1248C>T (p.Ala416=) rs747051975 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 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.351A>G (p.Val117=) rs754914546 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.520C>T (p.Arg174Ter) rs781542763 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.654G>A (p.Glu218=) rs754705988 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.675G>A (p.Glu225=) rs760906091 0.00002
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515 0.00002
NM_000136.3(FANCC):c.783A>T (p.Leu261=) rs1060504646 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_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000136.3(FANCC):c.897-19C>T rs368830981 0.00002
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690 0.00002
NM_000136.3(FANCC):c.975T>G (p.Ala325=) rs747463354 0.00002
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850 0.00002
NM_000751.3(CHRND):c.1047+16G>A rs1287834322 0.00002
NM_000751.3(CHRND):c.1047+19G>A rs749274268 0.00002
NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln) rs564930869 0.00002
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp) rs55868108 0.00002
NM_000751.3(CHRND):c.1371+10C>A rs762637499 0.00002
NM_000751.3(CHRND):c.1372G>A (p.Glu458Lys) rs140982683 0.00002
NM_000751.3(CHRND):c.1411C>T (p.Arg471Cys) rs533115724 0.00002
NM_000751.3(CHRND):c.1417dup (p.Cys473fs) rs1468893310 0.00002
NM_000751.3(CHRND):c.1552T>G (p.Ter518Glu) rs756238142 0.00002
NM_000751.3(CHRND):c.198+15G>A rs764503079 0.00002
NM_000751.3(CHRND):c.315G>A (p.Pro105=) rs770730077 0.00002
NM_000751.3(CHRND):c.463G>A (p.Val155Ile) rs767201456 0.00002
NM_000751.3(CHRND):c.698G>A (p.Arg233His) rs146416320 0.00002
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000751.3(CHRND):c.928G>A (p.Gly310Ser) rs771670415 0.00002
NM_000751.3(CHRND):c.932+16G>A rs759403975 0.00002
NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro) rs1425904046 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.1331A>T (p.Glu444Val) rs368679125 0.00002
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410 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.2301A>C (p.Leu767=) rs962222970 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018113.3(FANCB):c.2517T>C (p.Thr839=) rs760440816 0.00002
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=) rs759020755 0.00002
NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr) rs770685871 0.00002
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn) rs749099779 0.00002
NM_001018113.3(FANCB):c.552G>A (p.Leu184=) rs771998496 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_001018113.3(FANCB):c.688C>T (p.Pro230Ser) rs200970121 0.00002
NM_001018113.3(FANCB):c.741C>A (p.Ile247=) rs760773732 0.00002
NM_001018115.3(FANCD2):c.1014C>T (p.Ser338=) rs527769128 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.1317T>A (p.Ala439=) rs368441247 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.1788C>A (p.Thr596=) rs779249492 0.00002
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile) rs1221930544 0.00002
NM_001018115.3(FANCD2):c.2586C>T (p.Ile862=) rs367838566 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 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.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001018115.3(FANCD2):c.3683+19C>T rs377723227 0.00002
NM_001018115.3(FANCD2):c.3684-9G>A rs748312392 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.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.3778-15A>G rs755821273 0.00002
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val) rs587778333 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001018115.3(FANCD2):c.3871C>T (p.Leu1291=) rs771698231 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.3964-10T>C rs2302844 0.00002
NM_001018115.3(FANCD2):c.4053G>A (p.Thr1351=) rs760800033 0.00002
NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln) rs1334082637 0.00002
NM_001018115.3(FANCD2):c.4209T>C (p.Asn1403=) rs758210208 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_001018115.3(FANCD2):c.903T>A (p.Leu301=) rs752360517 0.00002
NM_001113378.2(FANCI):c.1092C>T (p.Ile364=) rs147055918 0.00002
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) rs201871288 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser) rs774909787 0.00002
NM_001113378.2(FANCI):c.1699-20T>C rs770951736 0.00002
NM_001113378.2(FANCI):c.1716C>T (p.His572=) rs750999079 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.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.1822-7C>G rs758739224 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.1923G>A (p.Leu641=) rs750462548 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.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.2454C>T (p.Phe818=) rs747796401 0.00002
NM_001113378.2(FANCI):c.2636+20T>C rs767625078 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.3549G>A (p.Val1183=) rs774699547 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001113378.2(FANCI):c.3816+6C>T rs989969696 0.00002
NM_001113378.2(FANCI):c.3925-4C>T rs765962856 0.00002
NM_001113378.2(FANCI):c.503+11T>C rs749071182 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.755+9T>C rs369467223 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_001113378.2(FANCI):c.975+7T>C rs766659063 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_001113525.2(ZNF276):c.*480G>C rs781731674 0.00002
NM_001113525.2(ZNF276):c.*732G>T rs775180524 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.2724C>T (p.His908=) rs752713774 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.5364C>T (p.His1788=) rs1038902556 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.6540C>T (p.Asp2180=) rs781099770 0.00002
NM_001271938.2(MEGF8):c.6834+11C>T rs369152755 0.00002
NM_001271938.2(MEGF8):c.7099C>T (p.Leu2367=) rs768745459 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_001346754.2(PIGW):c.1068A>G (p.Val356=) rs781391447 0.00002
NM_001346754.2(PIGW):c.1153C>T (p.Leu385Phe) rs1289299909 0.00002
NM_001346754.2(PIGW):c.134_135del (p.Tyr45fs) rs1279743396 0.00002
NM_001346754.2(PIGW):c.1410C>T (p.His470=) rs773413994 0.00002
NM_001346754.2(PIGW):c.1497G>A (p.Lys499=) rs772409187 0.00002
NM_001346754.2(PIGW):c.186T>C (p.Val62=) rs951359490 0.00002
NM_001346754.2(PIGW):c.34A>G (p.Ser12Gly) rs745967175 0.00002
NM_001346754.2(PIGW):c.398G>A (p.Arg133His) rs997305566 0.00002
NM_001346754.2(PIGW):c.69C>T (p.Thr23=) rs760295760 0.00002
NM_001346754.2(PIGW):c.796C>T (p.Leu266Phe) rs189401029 0.00002
NM_001346754.2(PIGW):c.919A>G (p.Ile307Val) rs773988121 0.00002
NM_001346754.2(PIGW):c.963A>G (p.Gln321=) rs1213857166 0.00002
NM_001346754.2(PIGW):c.994C>T (p.His332Tyr) rs141448923 0.00002
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840 0.00002
NM_001374353.1(GLI2):c.1632+10C>T rs769094105 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.2005A>T (p.Thr669Ser) rs750174908 0.00002
NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro) rs781438228 0.00002
NM_001374353.1(GLI2):c.2243-4G>A rs568001894 0.00002
NM_001374353.1(GLI2):c.2571C>G (p.Gly857=) rs757164059 0.00002
NM_001374353.1(GLI2):c.30C>T (p.Ser10=) rs145169912 0.00002
NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=) rs771337922 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_001429.4(EP300):c.108A>G (p.Leu36=) rs374715858 0.00002
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889 0.00002
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 0.00002
NM_001429.4(EP300):c.2766G>A (p.Ala922=) rs370810144 0.00002
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NM_001429.4(EP300):c.4980G>A (p.Thr1660=) rs570470790 0.00002
NM_001429.4(EP300):c.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile) rs1204127908 0.00002
NM_001999.4(FBN2):c.1079-10A>G rs766920012 0.00002
NM_001999.4(FBN2):c.1093A>G (p.Met365Val) rs1401325502 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 0.00002
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327 0.00002
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly) rs143515269 0.00002
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987 0.00002
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822 0.00002
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala) rs928205576 0.00002
NM_001999.4(FBN2):c.1422C>T (p.Ala474=) rs764073494 0.00002
NM_001999.4(FBN2):c.1434C>T (p.Ala478=) rs755786214 0.00002
NM_001999.4(FBN2):c.150T>C (p.Ala50=) rs543546489 0.00002
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln) rs748051713 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.1849+8A>G rs747219934 0.00002
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.1911C>G (p.Gly637=) rs537558351 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.1973-20T>C rs774598343 0.00002
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser) rs746408145 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg) rs1204171410 0.00002
NM_001999.4(FBN2):c.2532G>A (p.Arg844=) rs369638207 0.00002
NM_001999.4(FBN2):c.255-15G>A rs587780942 0.00002
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.2772C>T (p.Leu924=) rs773453872 0.00002
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093 0.00002
NM_001999.4(FBN2):c.2811A>G (p.Leu937=) rs1751336276 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.2990-8C>T rs370825177 0.00002
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro) rs551801199 0.00002
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val) rs754884110 0.00002
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=) rs201631085 0.00002
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn) rs537477883 0.00002
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu) rs772041342 0.00002
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=) rs757682009 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769 0.00002
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu) rs769665538 0.00002
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=) rs141505866 0.00002
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929 0.00002
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu) rs778566871 0.00002
NM_001999.4(FBN2):c.4099+8T>C rs765204163 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=) rs368341114 0.00002
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=) rs753935960 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.5097T>A (p.His1699Gln) rs757807339 0.00002
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys) rs759117573 0.00002
NM_001999.4(FBN2):c.533-6A>G rs56400997 0.00002
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val) rs779901706 0.00002
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=) rs757483263 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=) rs746592808 0.00002
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443 0.00002
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln) rs749907917 0.00002
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile) rs763393398 0.00002
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile) rs527609978 0.00002
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser) rs868031420 0.00002
NM_001999.4(FBN2):c.629-6T>C rs757696693 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 0.00002
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly) rs763160605 0.00002
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser) rs751231315 0.00002
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=) rs942158485 0.00002
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys) rs886038992 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011 0.00002
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292 0.00002
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu) rs1464960068 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.7138+10C>T rs1187342807 0.00002
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile) rs753865904 0.00002
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836 0.00002
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=) rs749843181 0.00002
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529 0.00002
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu) rs199583859 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.7595-13T>C rs747620496 0.00002
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753 0.00002
NM_001999.4(FBN2):c.7712-11T>A rs776926809 0.00002
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly) rs1430209734 0.00002
NM_001999.4(FBN2):c.7960+13T>G rs1023942727 0.00002
NM_001999.4(FBN2):c.7961-10G>A rs752746367 0.00002
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=) rs144013739 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427 0.00002
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met) rs754475064 0.00002
NM_001999.4(FBN2):c.891C>A (p.Gly297=) rs539258943 0.00002
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met) rs769661653 0.00002
NM_002334.4(LRP4):c.105A>C (p.Ala35=) rs766633369 0.00002
NM_002334.4(LRP4):c.1200C>T (p.Ala400=) rs755019127 0.00002
NM_002334.4(LRP4):c.1209G>A (p.Gly403=) rs751742961 0.00002
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=) rs373523952 0.00002
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln) rs774924956 0.00002
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00002
NM_002334.4(LRP4):c.1731C>G (p.Pro577=) rs762761020 0.00002
NM_002334.4(LRP4):c.1824C>T (p.Ala608=) rs368577516 0.00002
NM_002334.4(LRP4):c.228T>C (p.Phe76=) rs146007685 0.00002
NM_002334.4(LRP4):c.2425-20C>T rs760531886 0.00002
NM_002334.4(LRP4):c.2481C>G (p.Thr827=) rs759325895 0.00002
NM_002334.4(LRP4):c.2747G>A (p.Arg916His) rs752315031 0.00002
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser) rs765716290 0.00002
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys) rs775608977 0.00002
NM_002334.4(LRP4):c.2863G>A (p.Gly955Arg) rs772232191 0.00002
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala) rs766174802 0.00002
NM_002334.4(LRP4):c.2910C>T (p.Ser970=) rs754936858 0.00002
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=) rs534064794 0.00002
NM_002334.4(LRP4):c.3278-6C>T rs373579793 0.00002
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln) rs754092006 0.00002
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser) rs748719669 0.00002
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val) rs764853604 0.00002
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His) rs779038341 0.00002
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=) rs775166531 0.00002
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) rs200506943 0.00002
NM_002334.4(LRP4):c.471C>T (p.Asp157=) rs765171137 0.00002
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp) rs546318025 0.00002
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=) rs369034386 0.00002
NM_002334.4(LRP4):c.5087+14A>G rs376251083 0.00002
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser) rs774058346 0.00002
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr) rs914781633 0.00002
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala) rs367608390 0.00002
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) rs541585714 0.00002
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) rs778676466 0.00002
NM_002334.4(LRP4):c.548-20C>A rs1267038625 0.00002
NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln) rs779079160 0.00002
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly) rs749482785 0.00002
NM_002334.4(LRP4):c.585G>A (p.Glu195=) rs147714102 0.00002
NM_002334.4(LRP4):c.923-16C>A rs756847264 0.00002
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys) rs772004553 0.00002
NM_002968.3(SALL1):c.2452T>G (p.Phe818Val) rs1297554616 0.00002
NM_002968.3(SALL1):c.2461C>G (p.Leu821Val) rs766208261 0.00002
NM_002968.3(SALL1):c.3720G>A (p.Ala1240=) rs185996794 0.00002
NM_003289.4(TPM2):c.234C>T (p.Ala78=) rs749197310 0.00002
NM_003289.4(TPM2):c.399G>A (p.Arg133=) rs370635046 0.00002
NM_003289.4(TPM2):c.450G>A (p.Glu150=) rs775425326 0.00002
NM_003289.4(TPM2):c.639+10A>G rs749160249 0.00002
NM_003289.4(TPM2):c.759C>T (p.Ile253=) rs1057524292 0.00002
NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg) rs550631811 0.00002
NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser) rs782429883 0.00002
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln) rs1261345480 0.00002
NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu) rs782051479 0.00002
NM_003334.4(UBA1):c.1117G>A (p.Val373Met) rs782354395 0.00002
NM_003334.4(UBA1):c.117+10C>T rs1390029777 0.00002
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr) rs917269296 0.00002
NM_003334.4(UBA1):c.1173T>C (p.Ala391=) rs781783732 0.00002
NM_003334.4(UBA1):c.118-10C>T rs1288832522 0.00002
NM_003334.4(UBA1):c.1234-9C>T rs374680331 0.00002
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe) rs781838601 0.00002
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro) rs1028156593 0.00002
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg) rs888369922 0.00002
NM_003334.4(UBA1):c.1420-8C>T rs782038176 0.00002
NM_003334.4(UBA1):c.1485G>A (p.Gly495=) rs782721809 0.00002
NM_003334.4(UBA1):c.1638A>G (p.Thr546=) rs201169336 0.00002
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln) rs1215231057 0.00002
NM_003334.4(UBA1):c.1818T>C (p.Asn606=) rs782565505 0.00002
NM_003334.4(UBA1):c.1851G>A (p.Ser617=) rs782523119 0.00002
NM_003334.4(UBA1):c.1875T>C (p.Pro625=) rs1361428166 0.00002
NM_003334.4(UBA1):c.210C>T (p.Leu70=) rs191969626 0.00002
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=) rs782394637 0.00002
NM_003334.4(UBA1):c.2460T>C (p.Ser820=) rs782208544 0.00002
NM_003334.4(UBA1):c.2464+9_2464+16del rs782707059 0.00002
NM_003334.4(UBA1):c.2465-17T>C rs1354603007 0.00002
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr) rs1556793806 0.00002
NM_003334.4(UBA1):c.2724G>A (p.Glu908=) rs376593996 0.00002
NM_003334.4(UBA1):c.2725C>T (p.Leu909=) rs1268375603 0.00002
NM_003334.4(UBA1):c.2928C>T (p.Leu976=) rs782070102 0.00002
NM_003334.4(UBA1):c.2940+4A>G rs782751765 0.00002
NM_003334.4(UBA1):c.2949C>T (p.His983=) rs139697760 0.00002
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu) rs1185350232 0.00002
NM_003334.4(UBA1):c.3133G>A (p.Gly1045Ser) rs782451807 0.00002
NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser) rs1164940967 0.00002
NM_003334.4(UBA1):c.334C>T (p.Leu112Phe) rs782536219 0.00002
NM_003334.4(UBA1):c.486G>A (p.Val162=) rs370643219 0.00002
NM_003334.4(UBA1):c.499A>G (p.Thr167Ala) rs781828163 0.00002
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln) rs782068633 0.00002
NM_003334.4(UBA1):c.687C>T (p.Pro229=) rs782311444 0.00002
NM_003334.4(UBA1):c.741T>G (p.Phe247Leu) rs1556788006 0.00002
NM_003334.4(UBA1):c.781G>A (p.Gly261Arg) rs199512751 0.00002
NM_003334.4(UBA1):c.812-8C>T rs1196797596 0.00002
NM_003334.4(UBA1):c.863G>A (p.Arg288His) rs782554153 0.00002
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn) rs1365209491 0.00002
NM_003334.4(UBA1):c.910-7G>A rs782321523 0.00002
NM_003334.4(UBA1):c.93C>T (p.Ser31=) rs782703384 0.00002
NM_003334.4(UBA1):c.954G>A (p.Thr318=) rs368506746 0.00002
NM_004380.3(CREBBP):c.1331-4A>G rs756291909 0.00002
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=) rs753242611 0.00002
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014 0.00002
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg) rs754981072 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.4394+8T>C rs750961246 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004380.3(CREBBP):c.4812C>T (p.Asn1604=) rs762565460 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser) rs141184151 0.00002
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val) rs190153828 0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004380.3(CREBBP):c.759C>T (p.His253=) rs548980748 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1144-1G>T rs755363896 0.00002
NM_004629.2(FANCG):c.1155C>T (p.Pro385=) rs1217203217 0.00002
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter) rs776122485 0.00002
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg) rs759285011 0.00002
NM_004629.2(FANCG):c.1335G>A (p.Leu445=) rs780612204 0.00002
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu) rs757442131 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1581C>T (p.Ser527=) rs768671803 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_004629.2(FANCG):c.1677G>A (p.Lys559=) rs779403243 0.00002
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala) rs750212705 0.00002
NM_004629.2(FANCG):c.176-10G>A rs376273679 0.00002
NM_004629.2(FANCG):c.308-8C>T rs776375811 0.00002
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly) rs200074432 0.00002
NM_004629.2(FANCG):c.583T>C (p.Leu195=) rs370461759 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_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=) rs376829572 0.00002
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=) rs763094966 0.00002
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly) rs768059942 0.00002
NM_005055.5(RAPSN):c.1167-17G>A rs770347768 0.00002
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=) rs1013183854 0.00002
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln) rs1380619456 0.00002
NM_005055.5(RAPSN):c.360G>T (p.Gln120His) rs780338213 0.00002
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr) rs199506866 0.00002
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe) rs376041895 0.00002
NM_005055.5(RAPSN):c.650G>A (p.Arg217His) rs763058066 0.00002
NM_005055.5(RAPSN):c.726G>A (p.Arg242=) rs754654883 0.00002
NM_005055.5(RAPSN):c.912+20A>G rs763929869 0.00002
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) rs753728949 0.00002
NM_005236.3(ERCC4):c.105C>T (p.Cys35=) rs762885804 0.00002
NM_005236.3(ERCC4):c.1214-19T>C rs747124669 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.1452C>A (p.Thr484=) rs1420641422 0.00002
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=) rs769817145 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.2436G>A (p.Leu812=) rs373510515 0.00002
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) rs200069811 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.2604C>T (p.His868=) rs370809250 0.00002
NM_005236.3(ERCC4):c.2607C>T (p.His869=) rs769736716 0.00002
NM_005236.3(ERCC4):c.540A>G (p.Arg180=) rs765599689 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_005445.4(SMC3):c.1241C>T (p.Ala414Val) rs555886077 0.00002
NM_005445.4(SMC3):c.1670+7G>A rs762555190 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_005592.4(MUSK):c.1014C>A (p.Asn338Lys) rs373175897 0.00002
NM_005592.4(MUSK):c.1148G>T (p.Ser383Ile) rs571312240 0.00002
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys) rs751972431 0.00002
NM_005592.4(MUSK):c.1257A>G (p.Arg419=) rs550568354 0.00002
NM_005592.4(MUSK):c.1363T>G (p.Tyr455Asp) rs369240171 0.00002
NM_005592.4(MUSK):c.1400C>T (p.Thr467Met) rs777107917 0.00002
NM_005592.4(MUSK):c.1657A>G (p.Met553Val) rs753213086 0.00002
NM_005592.4(MUSK):c.1716G>A (p.Arg572=) rs747237685 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn) rs147562871 0.00002
NM_005592.4(MUSK):c.1799A>G (p.Tyr600Cys) rs760793449 0.00002
NM_005592.4(MUSK):c.1928-13C>A rs779820360 0.00002
NM_005592.4(MUSK):c.1944G>A (p.Gly648=) rs1206244035 0.00002
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser) rs779042240 0.00002
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg) rs1216581384 0.00002
NM_005592.4(MUSK):c.2184C>A (p.Thr728=) rs918997958 0.00002
NM_005592.4(MUSK):c.2442C>T (p.Tyr814=) rs779578271 0.00002
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln) rs764486887 0.00002
NM_005592.4(MUSK):c.2506C>T (p.Arg836Cys) rs769657813 0.00002
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln) rs754275653 0.00002
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys) rs200450921 0.00002
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu) rs370094071 0.00002
NM_005592.4(MUSK):c.359-19A>G rs751238962 0.00002
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys) rs371157090 0.00002
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe) rs1311636142 0.00002
NM_005592.4(MUSK):c.667G>A (p.Val223Ile) rs774463260 0.00002
NM_005592.4(MUSK):c.744C>T (p.Asn248=) rs765006536 0.00002
NM_005592.4(MUSK):c.753+7G>C rs193147263 0.00002
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser) rs747154421 0.00002
NM_005592.4(MUSK):c.978T>C (p.Asn326=) rs563391603 0.00002
NM_006265.3(RAD21):c.1364T>C (p.Val455Ala) rs373625369 0.00002
NM_006265.3(RAD21):c.145-4A>G rs752213732 0.00002
NM_006265.3(RAD21):c.1471-9T>C rs763912364 0.00002
NM_006265.3(RAD21):c.1576G>C (p.Glu526Gln) rs373026310 0.00002
NM_006265.3(RAD21):c.1629T>C (p.Asp543=) rs377080076 0.00002
NM_006265.3(RAD21):c.717C>T (p.Gly239=) rs1293278125 0.00002
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=) rs369057648 0.00002
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.1546-5C>T rs1556889651 0.00002
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00002
NM_006306.4(SMC1A):c.15A>G (p.Lys5=) rs782396631 0.00002
NM_006306.4(SMC1A):c.174A>G (p.Val58=) rs200428075 0.00002
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln) rs782176647 0.00002
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=) rs1388876894 0.00002
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=) rs1198625423 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu) rs376589639 0.00002
NM_006306.4(SMC1A):c.2718C>G (p.Thr906=) rs1556888013 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
NM_006306.4(SMC1A):c.27T>C (p.Ile9=) rs1396001151 0.00002
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=) rs782146571 0.00002
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=) rs782788248 0.00002
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=) rs1390804289 0.00002
NM_006306.4(SMC1A):c.299-15T>G rs782364230 0.00002
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=) rs782049998 0.00002
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly) rs782241632 0.00002
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=) rs368345004 0.00002
NM_006306.4(SMC1A):c.3618+7C>T rs782267492 0.00002
NM_006306.4(SMC1A):c.3619-16C>T rs1556885717 0.00002
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser) rs782012594 0.00002
NM_006306.4(SMC1A):c.453G>A (p.Arg151=) rs782287101 0.00002
NM_006306.4(SMC1A):c.652C>T (p.Arg218Trp) rs782811561 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_012243.3(SLC35A3):c.114A>G (p.Leu38=) rs757521726 0.00002
NM_012243.3(SLC35A3):c.282T>C (p.Tyr94=) rs912076311 0.00002
NM_012243.3(SLC35A3):c.347C>T (p.Thr116Met) rs774263178 0.00002
NM_012243.3(SLC35A3):c.54C>G (p.Thr18=) rs1409412016 0.00002
NM_012243.3(SLC35A3):c.74G>A (p.Arg25His) rs903783945 0.00002
NM_012243.3(SLC35A3):c.753+8A>G rs781326156 0.00002
NM_013352.4(DSE):c.121G>A (p.Asp41Asn) rs754763310 0.00002
NM_013352.4(DSE):c.189G>A (p.Ser63=) rs953029145 0.00002
NM_013352.4(DSE):c.2184G>A (p.Lys728=) rs150939596 0.00002
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly) rs199731077 0.00002
NM_013352.4(DSE):c.2661A>G (p.Thr887=) rs762839207 0.00002
NM_013352.4(DSE):c.2850C>T (p.Tyr950=) rs751986225 0.00002
NM_013352.4(DSE):c.780G>A (p.Ala260=) rs765697282 0.00002
NM_014918.5(CHSY1):c.1972A>G (p.Ile658Val) rs570222707 0.00002
NM_014918.5(CHSY1):c.255C>T (p.Asn85=) rs775018701 0.00002
NM_014918.5(CHSY1):c.685C>T (p.Arg229Trp) rs757906025 0.00002
NM_014918.5(CHSY1):c.686G>A (p.Arg229Gln) rs757665488 0.00002
NM_014918.5(CHSY1):c.756C>T (p.Asp252=) rs145660234 0.00002
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys) rs768914522 0.00002
NM_016277.5(RAB23):c.57A>G (p.Ala19=) rs750598308 0.00002
NM_016277.5(RAB23):c.606C>T (p.Ser202=) rs771204930 0.00002
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=) rs777575093 0.00002
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=) rs553606088 0.00002
NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=) rs749267756 0.00002
NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser) rs752255207 0.00002
NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=) rs367567190 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1256-15G>A rs200086842 0.00002
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=) rs775219296 0.00002
NM_017617.5(NOTCH1):c.1308C>T (p.Phe436=) rs758751583 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.1362C>T (p.Asn454=) rs373152976 0.00002
NM_017617.5(NOTCH1):c.1368C>T (p.Cys456=) rs559866409 0.00002
NM_017617.5(NOTCH1):c.1441+8G>A rs765031085 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.1555+18C>G rs376982757 0.00002
NM_017617.5(NOTCH1):c.1677G>A (p.Thr559=) rs1391226025 0.00002
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met) rs750330670 0.00002
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=) rs377472138 0.00002
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001 0.00002
NM_017617.5(NOTCH1):c.1758C>A (p.Thr586=) rs369523266 0.00002
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=) rs755070916 0.00002
NM_017617.5(NOTCH1):c.1861C>T (p.Arg621Cys) rs774622686 0.00002
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856 0.00002
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324 0.00002
NM_017617.5(NOTCH1):c.2014+7G>A rs562353347 0.00002
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser) rs373556820 0.00002
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549 0.00002
NM_017617.5(NOTCH1):c.2207+7G>A rs138935812 0.00002
NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=) rs752226005 0.00002
NM_017617.5(NOTCH1):c.226G>A (p.Val76Met) rs532574807 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.242G>A (p.Gly81Asp) rs749152413 0.00002
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg) rs747529236 0.00002
NM_017617.5(NOTCH1):c.2468-20C>T rs756381967 0.00002
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met) rs772945824 0.00002
NM_017617.5(NOTCH1):c.2523C>T (p.Gly841=) rs779908981 0.00002
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986 0.00002
NM_017617.5(NOTCH1):c.2741-18C>T rs775954871 0.00002
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) rs373787791 0.00002
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958 0.00002
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu) rs756174213 0.00002
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met) rs781201059 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.2928C>T (p.Ser976=) rs534911025 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_017617.5(NOTCH1):c.2969+7G>A rs770026189 0.00002
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314 0.00002
NM_017617.5(NOTCH1):c.3171+8C>T rs985717588 0.00002
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185 0.00002
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282 0.00002
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met) rs369730402 0.00002
NM_017617.5(NOTCH1):c.3325+9C>A rs1413516206 0.00002
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys) rs1399392600 0.00002
NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe) rs375190395 0.00002
NM_017617.5(NOTCH1):c.3564C>T (p.Leu1188=) rs367932079 0.00002
NM_017617.5(NOTCH1):c.363G>A (p.Thr121=) rs777400734 0.00002
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=) rs577243605 0.00002
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His) rs781658171 0.00002
NM_017617.5(NOTCH1):c.3748G>A (p.Gly1250Ser) rs771192471 0.00002
NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu) rs200245794 0.00002
NM_017617.5(NOTCH1):c.3777C>T (p.Phe1259=) rs761586260 0.00002
NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys) rs751275854 0.00002
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388 0.00002
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=) rs201791826 0.00002
NM_017617.5(NOTCH1):c.393C>T (p.Pro131=) rs1250243662 0.00002
NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His) rs864622727 0.00002
NM_017617.5(NOTCH1):c.4251C>T (p.Pro1417=) rs1453185145 0.00002
NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr) rs1290588213 0.00002
NM_017617.5(NOTCH1):c.4308C>T (p.Ala1436=) rs749702298 0.00002
NM_017617.5(NOTCH1):c.4312C>T (p.Arg1438Cys) rs746077264 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.4329G>A (p.Pro1443=) rs1466689418 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe) rs765839822 0.00002
NM_017617.5(NOTCH1):c.4587-11G>A rs778356792 0.00002
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5004C>T (p.Pro1668=) rs1200928521 0.00002
NM_017617.5(NOTCH1):c.5010C>T (p.Asp1670=) rs780348772 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.5167+19C>T rs751046078 0.00002
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704 0.00002
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=) rs781386640 0.00002
NM_017617.5(NOTCH1):c.5340G>A (p.Lys1780=) rs148187717 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.5562C>T (p.Arg1854=) rs777125560 0.00002
NM_017617.5(NOTCH1):c.5639-17C>T rs749795813 0.00002
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu) rs970443298 0.00002
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501 0.00002
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His) rs777423973 0.00002
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978 0.00002
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127 0.00002
NM_017617.5(NOTCH1):c.5935-11C>T rs768074148 0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) rs531156367 0.00002
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr) rs759749364 0.00002
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830 0.00002
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816 0.00002
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410 0.00002
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401 0.00002
NM_017617.5(NOTCH1):c.6498G>A (p.Leu2166=) rs201289055 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.6948C>T (p.Ser2316=) rs771142030 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.7158G>A (p.Gln2386=) rs371664086 0.00002
NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=) rs761927126 0.00002
NM_017617.5(NOTCH1):c.723C>T (p.His241=) rs11574873 0.00002
NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=) rs1032110986 0.00002
NM_017617.5(NOTCH1):c.7278C>T (p.Ser2426=) rs757461161 0.00002
NM_017617.5(NOTCH1):c.7284C>T (p.His2428=) rs1248029549 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.742+12C>T rs1303732934 0.00002
NM_017617.5(NOTCH1):c.7458G>A (p.Ser2486=) rs781225824 0.00002
NM_017617.5(NOTCH1):c.7605C>T (p.Gly2535=) rs757253280 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_017617.5(NOTCH1):c.948C>T (p.His316=) rs904456632 0.00002
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val) rs140758986 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_018062.4(FANCL):c.375-14C>G rs1361463338 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.775+13A>C rs764413990 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_018486.3(HDAC8):c.1047G>A (p.Thr349=) rs782747900 0.00002
NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln) rs781862582 0.00002
NM_018486.3(HDAC8):c.111+20A>C rs782224300 0.00002
NM_018486.3(HDAC8):c.1111+16C>T rs1039038766 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_018486.3(HDAC8):c.281T>C (p.Ile94Thr) rs1452290404 0.00002
NM_018486.3(HDAC8):c.318A>G (p.Glu106=) rs1388554395 0.00002
NM_018486.3(HDAC8):c.429T>C (p.His143=) rs374885534 0.00002
NM_018486.3(HDAC8):c.516T>A (p.Ile172=) rs61752447 0.00002
NM_018486.3(HDAC8):c.561C>T (p.Asp187=) rs931276707 0.00002
NM_018486.3(HDAC8):c.756C>T (p.Tyr252=) rs368682006 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.1456C>T (p.Arg486Ter) rs1011870043 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.2161-9A>T rs752101829 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.2628T>C (p.Asp876=) rs374313777 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.3513T>C (p.Pro1171=) rs771150480 0.00002
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala) rs1227473930 0.00002
NM_020937.4(FANCM):c.3558T>C (p.Asn1186=) rs757952471 0.00002
NM_020937.4(FANCM):c.3609T>G (p.Ser1203=) rs372956385 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.4833G>A (p.Glu1611=) rs1479169742 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.5208G>A (p.Leu1736=) rs746368298 0.00002
NM_020937.4(FANCM):c.5250T>G (p.Pro1750=) rs750305966 0.00002
NM_020937.4(FANCM):c.5340+18G>A rs765324547 0.00002
NM_020937.4(FANCM):c.5341-18T>C rs1479142290 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.5436G>A (p.Pro1812=) rs377630399 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.5685T>C (p.Cys1895=) rs746870942 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.63G>C (p.Gly21=) rs563248675 0.00002
NM_020937.4(FANCM):c.681+12G>A rs200644561 0.00002
NM_020937.4(FANCM):c.840T>C (p.Tyr280=) rs777422576 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_020937.4(FANCM):c.996T>C (p.Tyr332=) rs752677621 0.00002
NM_021922.3(FANCE):c.1237+8T>A rs1767499963 0.00002
NM_021922.3(FANCE):c.1316+18C>T rs768893669 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.1510-12C>G rs747704642 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg) rs767509954 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_021922.3(FANCE):c.970-15G>A rs369631267 0.00002
NM_021922.3(FANCE):c.981G>A (p.Leu327=) rs772385794 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.654C>G (p.Pro218=) rs779948183 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.1178C>T (p.Ser393Leu) rs369059499 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.193A>C (p.Asn65His) rs768919123 0.00002
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=) rs376421301 0.00002
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=) rs760681522 0.00002
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=) rs773144331 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.243C>T (p.Ile81=) rs764340351 0.00002
NM_023110.3(FGFR1):c.288C>T (p.Ser96=) rs757362905 0.00002
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser) rs1419947824 0.00002
NM_023110.3(FGFR1):c.448+20C>T rs767029419 0.00002
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile) rs762665767 0.00002
NM_023110.3(FGFR1):c.507G>A (p.Pro169=) rs374145904 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_023110.3(FGFR1):c.937-15C>T rs966338298 0.00002
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225 0.00002
NM_032043.3(BRIP1):c.1340+7A>T rs755399646 0.00002
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520 0.00002
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser) rs780310294 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg) rs1603367704 0.00002
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=) rs372760869 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_032043.3(BRIP1):c.1752T>C (p.Thr584=) rs778774207 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.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe) rs768393936 0.00002
NM_032043.3(BRIP1):c.2258-15T>C rs780573511 0.00002
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=) rs748981650 0.00002
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp) rs745782331 0.00002
NM_032043.3(BRIP1):c.2575+7T>A rs750874535 0.00002
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg) rs1060501733 0.00002
NM_032043.3(BRIP1):c.2751T>C (p.Ser917=) rs150780318 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=) rs113697814 0.00002
NM_032043.3(BRIP1):c.2905+15T>G rs749855085 0.00002
NM_032043.3(BRIP1):c.2905+4T>C rs373835270 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.3489T>C (p.Asp1163=) rs144245485 0.00002
NM_032043.3(BRIP1):c.3546C>T (p.Ala1182=) rs755440956 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.507+14A>G rs754102734 0.00002
NM_032043.3(BRIP1):c.507+20A>C rs369270945 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.633del (p.Gly212fs) rs779466229 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.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln) rs758360637 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala) rs62620988 0.00002
NM_032043.3(BRIP1):c.859G>A (p.Glu287Lys) rs1309409845 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_032043.3(BRIP1):c.94-4A>G rs765154059 0.00002
NM_032444.4(SLX4):c.1125A>G (p.Thr375=) rs369510675 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.1163+8G>A rs777094715 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.1404C>G (p.Pro468=) rs765351696 0.00002
NM_032444.4(SLX4):c.1500G>A (p.Thr500=) rs747483922 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.1782C>T (p.Gly594=) rs1356071644 0.00002
NM_032444.4(SLX4):c.1806T>C (p.Pro602=) rs925073189 0.00002
NM_032444.4(SLX4):c.1944C>T (p.Gly648=) rs149315267 0.00002
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 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.2013+19C>T rs1463441770 0.00002
NM_032444.4(SLX4):c.2013+20C>T rs779231117 0.00002
NM_032444.4(SLX4):c.2013+8C>A rs372272797 0.00002
NM_032444.4(SLX4):c.2055C>T (p.Val685=) rs775934995 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.2169T>C (p.Asn723=) rs750908864 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.2256G>A (p.Leu752=) rs767795477 0.00002
NM_032444.4(SLX4):c.2301C>T (p.Ser767=) rs555778729 0.00002
NM_032444.4(SLX4):c.2328-17G>A rs766325618 0.00002
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro) rs762300440 0.00002
NM_032444.4(SLX4):c.2658T>G (p.Val886=) rs769552773 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.3321G>A (p.Leu1107=) rs367891675 0.00002
NM_032444.4(SLX4):c.3471G>A (p.Ser1157=) rs748090102 0.00002
NM_032444.4(SLX4):c.3481C>T (p.Leu1161=) rs371122297 0.00002
NM_032444.4(SLX4):c.3583A>G (p.Ile1195Val) rs370761463 0.00002
NM_032444.4(SLX4):c.3669G>A (p.Pro1223=) rs200407926 0.00002
NM_032444.4(SLX4):c.3677G>A (p.Arg1226Gln) rs748607152 0.00002
NM_032444.4(SLX4):c.36C>T (p.Phe12=) rs775948210 0.00002
NM_032444.4(SLX4):c.3846G>A (p.Leu1282=) rs1040333386 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.3951G>A (p.Pro1317=) rs147600630 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.4116G>T (p.Arg1372=) rs765606538 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.4377C>T (p.Asn1459=) rs773941480 0.00002
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) rs372321470 0.00002
NM_032444.4(SLX4):c.4449T>C (p.Thr1483=) rs145444328 0.00002
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val) rs777033175 0.00002
NM_032444.4(SLX4):c.4539T>C (p.Val1513=) rs146731362 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.4953T>C (p.Pro1651=) rs1448549529 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.5106C>T (p.Ser1702=) rs1421905027 0.00002
NM_032444.4(SLX4):c.5153+19T>C rs374696176 0.00002
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter) rs776789371 0.00002
NM_032444.4(SLX4):c.5247G>A (p.Ala1749=) rs775552034 0.00002
NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys) rs371390105 0.00002
NM_032444.4(SLX4):c.5457G>A (p.Gln1819=) rs1471160430 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.795C>T (p.Asp265=) rs751115644 0.00002
NM_032444.4(SLX4):c.7C>T (p.Leu3=) rs751472980 0.00002
NM_032444.4(SLX4):c.801G>A (p.Ala267=) rs375643423 0.00002
NM_032444.4(SLX4):c.802G>A (p.Val268Met) rs1060501798 0.00002
NM_032444.4(SLX4):c.846G>A (p.Ser282=) rs745750001 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_032634.4(PIGO):c.1069C>T (p.His357Tyr) rs141121202 0.00002
NM_032634.4(PIGO):c.1127G>A (p.Arg376Gln) rs768552303 0.00002
NM_032634.4(PIGO):c.1459G>A (p.Val487Met) rs762885128 0.00002
NM_032634.4(PIGO):c.1460T>C (p.Val487Ala) rs750242299 0.00002
NM_032634.4(PIGO):c.1619C>A (p.Ala540Glu) rs1488869656 0.00002
NM_032634.4(PIGO):c.1721C>G (p.Pro574Arg) rs558371613 0.00002
NM_032634.4(PIGO):c.1723T>G (p.Phe575Val) rs769087057 0.00002
NM_032634.4(PIGO):c.1749C>G (p.Leu583=) rs377734849 0.00002
NM_032634.4(PIGO):c.17T>C (p.Val6Ala) rs767770355 0.00002
NM_032634.4(PIGO):c.1815T>G (p.Leu605=) rs553734046 0.00002
NM_032634.4(PIGO):c.1831A>G (p.Thr611Ala) rs774281466 0.00002
NM_032634.4(PIGO):c.1918C>T (p.Arg640Cys) rs552540556 0.00002
NM_032634.4(PIGO):c.2066G>A (p.Arg689His) rs771748735 0.00002
NM_032634.4(PIGO):c.236G>A (p.Arg79Gln) rs759013444 0.00002
NM_032634.4(PIGO):c.2383T>C (p.Tyr795His) rs760038249 0.00002
NM_032634.4(PIGO):c.2415G>A (p.Gln805=) rs1419929157 0.00002
NM_032634.4(PIGO):c.2634C>T (p.Pro878=) rs534875041 0.00002
NM_032634.4(PIGO):c.2647+12A>C rs765544018 0.00002
NM_032634.4(PIGO):c.264A>C (p.Ser88=) rs758614814 0.00002
NM_032634.4(PIGO):c.2854+10C>T rs535228820 0.00002
NM_032634.4(PIGO):c.2889G>C (p.Leu963=) rs959471469 0.00002
NM_032634.4(PIGO):c.3070-15C>T rs201927771 0.00002
NM_032634.4(PIGO):c.3070-6C>T rs751434613 0.00002
NM_032634.4(PIGO):c.3113T>G (p.Leu1038Arg) rs761199326 0.00002
NM_032634.4(PIGO):c.3140+13G>C rs374450091 0.00002
NM_032634.4(PIGO):c.3178G>A (p.Val1060Met) rs551920425 0.00002
NM_032634.4(PIGO):c.537T>C (p.Asp179=) rs761993139 0.00002
NM_032634.4(PIGO):c.599A>G (p.Asn200Ser) rs755621448 0.00002
NM_032634.4(PIGO):c.646T>C (p.Tyr216His) rs372754217 0.00002
NM_032634.4(PIGO):c.807C>T (p.Asp269=) rs369714563 0.00002
NM_032634.4(PIGO):c.859G>A (p.Gly287Arg) rs780295527 0.00002
NM_032634.4(PIGO):c.940-9T>C rs1056263001 0.00002
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys) rs773998134 0.00002
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198 0.00002
NM_058216.3(RAD51C):c.1117G>A (p.Glu373Lys) rs1433497291 0.00002
NM_058216.3(RAD51C):c.146-3C>T rs765143155 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.315A>G (p.Ser105=) rs876660032 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.453G>A (p.Val151=) rs45553636 0.00002
NM_058216.3(RAD51C):c.481G>C (p.Glu161Gln) rs768903850 0.00002
NM_058216.3(RAD51C):c.513C>T (p.Asp171=) rs140279158 0.00002
NM_058216.3(RAD51C):c.537C>A (p.His179Gln) rs372385738 0.00002
NM_058216.3(RAD51C):c.571+15G>T rs375007340 0.00002
NM_058216.3(RAD51C):c.571+20T>C rs577697136 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.705+10A>G rs377586976 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 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.773G>A (p.Arg258His) rs267606997 0.00002
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp) rs374196453 0.00002
NM_058216.3(RAD51C):c.837+14A>G rs1057517644 0.00002
NM_058216.3(RAD51C):c.837+1G>A rs760235677 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_058216.3(RAD51C):c.945T>C (p.Phe315=) rs201235884 0.00002
NM_058216.3(RAD51C):c.948T>C (p.His316=) rs773196250 0.00002
NM_130468.4(CHST14):c.138G>C (p.Met46Ile) rs1466102278 0.00002
NM_130468.4(CHST14):c.143C>T (p.Ala48Val) rs780919131 0.00002
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro) rs749135787 0.00002
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr) rs1394541294 0.00002
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser) rs561964206 0.00002
NM_130468.4(CHST14):c.252C>T (p.Arg84=) rs1377145039 0.00002
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu) rs770839880 0.00002
NM_130468.4(CHST14):c.501G>C (p.Lys167Asn) rs763410236 0.00002
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) rs781430388 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_130468.4(CHST14):c.861G>A (p.Gln287=) rs772452727 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 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.126T>C (p.Phe42=) rs727504046 0.00002
NM_133433.4(NIPBL):c.1383A>G (p.Gln461=) rs1488544687 0.00002
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly) rs780665254 0.00002
NM_133433.4(NIPBL):c.2616T>C (p.His872=) rs750703789 0.00002
NM_133433.4(NIPBL):c.2877G>A (p.Pro959=) rs1038314771 0.00002
NM_133433.4(NIPBL):c.300G>A (p.Leu100=) rs768550843 0.00002
NM_133433.4(NIPBL):c.3018A>G (p.Gln1006=) rs776669672 0.00002
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr) rs747918239 0.00002
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=) rs768002739 0.00002
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val) rs1223302517 0.00002
NM_133433.4(NIPBL):c.5226-4G>A rs370826969 0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) rs587783983 0.00002
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala) rs764147606 0.00002
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=) rs778876578 0.00002
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile) rs769447796 0.00002
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073 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.1503C>G (p.Thr501=) rs369530549 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.1608A>G (p.Glu536=) rs201898124 0.00002
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612 0.00002
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2046+20A>C rs777490147 0.00002
NM_147127.5(EVC2):c.2073G>A (p.Ala691=) rs765197478 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2337G>A (p.Glu779=) rs985968905 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2439C>T (p.Asp813=) rs370538823 0.00002
NM_147127.5(EVC2):c.2502-19T>C rs564320592 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.2637A>G (p.Gln879=) rs749805702 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_147127.5(EVC2):c.2949G>A (p.Ser983=) rs755297128 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_147127.5(EVC2):c.3057+13G>A rs770915834 0.00002
NM_147127.5(EVC2):c.3058-5T>C rs765936867 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=) rs778954685 0.00002
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=) rs779715707 0.00002
NM_147127.5(EVC2):c.3360+9G>A rs747744305 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile) rs751725959 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=) rs966509995 0.00002
NM_147127.5(EVC2):c.522G>A (p.Val174=) rs140251602 0.00002
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser) rs753207027 0.00002
NM_147127.5(EVC2):c.753A>G (p.Gly251=) rs369737795 0.00002
NM_147127.5(EVC2):c.792A>G (p.Gln264=) rs1014985062 0.00002
NM_147127.5(EVC2):c.869C>T (p.Thr290Met) rs149414427 0.00002
NM_147127.5(EVC2):c.924C>T (p.Leu308=) rs140800339 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.114C>G (p.Leu38=) rs1167442380 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_153717.3(EVC):c.1389G>A (p.Thr463=) rs765596595 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.1539C>T (p.Thr513=) rs549251750 0.00002
NM_153717.3(EVC):c.1581C>T (p.Thr527=) rs748792939 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 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.2098-4C>G rs771784128 0.00002
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588 0.00002
NM_153717.3(EVC):c.2331G>A (p.Glu777=) rs749197907 0.00002
NM_153717.3(EVC):c.2334C>T (p.Ser778=) rs754983705 0.00002
NM_153717.3(EVC):c.2449+8A>C rs575130220 0.00002
NM_153717.3(EVC):c.246A>G (p.Pro82=) rs144606687 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_153717.3(EVC):c.2894+9G>C rs776278582 0.00002
NM_153717.3(EVC):c.384+19A>G rs200666993 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.411G>A (p.Pro137=) rs758770136 0.00002
NM_153717.3(EVC):c.474C>T (p.Ser158=) rs751812626 0.00002
NM_153717.3(EVC):c.519C>T (p.Ser173=) rs1287616282 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_153717.3(EVC):c.660C>T (p.Asp220=) rs200294295 0.00002
NM_153717.3(EVC):c.702+8G>A rs757444170 0.00002
NM_153717.3(EVC):c.801+16A>G rs774227453 0.00002
NM_153717.3(EVC):c.801+8T>C rs1388494242 0.00002
NM_173660.5(DOK7):c.101-16G>A rs755933024 0.00002
NM_173660.5(DOK7):c.1059G>A (p.Ser353=) rs781086422 0.00002
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu) rs1418197383 0.00002
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys) rs751691265 0.00002
NM_173660.5(DOK7):c.1197C>T (p.Thr399=) rs756540534 0.00002
NM_173660.5(DOK7):c.1226G>A (p.Arg409His) rs377528603 0.00002
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg) rs142510199 0.00002
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val) rs745414274 0.00002
NM_173660.5(DOK7):c.1314G>A (p.Thr438=) rs371276345 0.00002
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys) rs1359635065 0.00002
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp) rs915179362 0.00002
NM_173660.5(DOK7):c.1458G>A (p.Pro486=) rs763843300 0.00002
NM_173660.5(DOK7):c.1506C>T (p.Pro502=) rs753827494 0.00002
NM_173660.5(DOK7):c.321G>A (p.Ala107=) rs769702844 0.00002
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp) rs1319317420 0.00002
NM_173660.5(DOK7):c.453G>A (p.Gln151=) rs764598148 0.00002
NM_173660.5(DOK7):c.54+31_54+32insT rs1245236150 0.00002
NM_173660.5(DOK7):c.55-10G>A rs886043943 0.00002
NM_173660.5(DOK7):c.55-19C>T rs1316334613 0.00002
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu) rs772577244 0.00002
NM_173660.5(DOK7):c.623G>T (p.Gly208Val) rs572714394 0.00002
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys) rs756962738 0.00002
NM_173660.5(DOK7):c.689G>A (p.Arg230His) rs760941977 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr) rs139429423 0.00002
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu) rs1478257270 0.00002
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg) rs747816956 0.00002
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser) rs1425852835 0.00002
NM_000079.4(CHRNA1):c.1002+17C>G rs777724002 0.00001
NM_000079.4(CHRNA1):c.1003-9T>C rs769523120 0.00001
NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val) rs755304714 0.00001
NM_000079.4(CHRNA1):c.102C>A (p.Asp34Glu) rs377254749 0.00001
NM_000079.4(CHRNA1):c.1045A>G (p.Met349Val) rs760175390 0.00001
NM_000079.4(CHRNA1):c.1097T>C (p.Ile366Thr) rs942359952 0.00001
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=) rs767048858 0.00001
NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg) rs776811077 0.00001
NM_000079.4(CHRNA1):c.118C>T (p.Arg40Trp) rs774423842 0.00001
NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln) rs1180739514 0.00001
NM_000079.4(CHRNA1):c.1244C>T (p.Ala415Val) rs200394375 0.00001
NM_000079.4(CHRNA1):c.1245G>A (p.Ala415=) rs372181669 0.00001
NM_000079.4(CHRNA1):c.124G>T (p.Val42Leu) rs1376655390 0.00001
NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=) rs1553541913 0.00001
NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile) rs754320308 0.00001
NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=) rs761249168 0.00001
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe) rs759664482 0.00001
NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=) rs137852808 0.00001
NM_000079.4(CHRNA1):c.1318A>G (p.Ile440Val) rs1479795714 0.00001
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) rs771587252 0.00001
NM_000079.4(CHRNA1):c.157G>A (p.Val53Met) rs779877755 0.00001
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter) rs750329103 0.00001
NM_000079.4(CHRNA1):c.177G>C (p.Gln59His) rs199899006 0.00001
NM_000079.4(CHRNA1):c.265C>G (p.Pro89Ala) rs912456299 0.00001
NM_000079.4(CHRNA1):c.270T>C (p.Asp90=) rs746590795 0.00001
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) rs779169597 0.00001
NM_000079.4(CHRNA1):c.314T>C (p.Ile105Thr) rs764809207 0.00001
NM_000079.4(CHRNA1):c.327C>T (p.Asp109=) rs1684006081 0.00001
NM_000079.4(CHRNA1):c.330T>C (p.Leu110=) rs763984762 0.00001
NM_000079.4(CHRNA1):c.344+12G>C rs774924187 0.00001
NM_000079.4(CHRNA1):c.344+6C>A rs1438960872 0.00001
NM_000079.4(CHRNA1):c.345-14T>A rs776569258 0.00001
NM_000079.4(CHRNA1):c.35T>C (p.Leu12Pro) rs765824911 0.00001
NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser) rs1235810008 0.00001
NM_000079.4(CHRNA1):c.439T>C (p.Tyr147His) rs1224199250 0.00001
NM_000079.4(CHRNA1):c.449T>G (p.Ile150Ser) rs1040313532 0.00001
NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met) rs200163630 0.00001
NM_000079.4(CHRNA1):c.453C>T (p.Ile151=) rs372122272 0.00001
NM_000079.4(CHRNA1):c.454G>A (p.Val152Ile) rs137852807 0.00001
NM_000079.4(CHRNA1):c.514G>A (p.Asp172Asn) rs1232135247 0.00001
NM_000079.4(CHRNA1):c.51C>T (p.Leu17=) rs751402231 0.00001
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.579C>T (p.Ser193=) rs534185815 0.00001
NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg) rs201147926 0.00001
NM_000079.4(CHRNA1):c.594C>G (p.Ile198Met) rs1054392349 0.00001
NM_000079.4(CHRNA1):c.642C>T (p.Pro214=) rs757027133 0.00001
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) rs745355427 0.00001
NM_000079.4(CHRNA1):c.706G>A (p.Val236Ile) rs1332781017 0.00001
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) rs137852798 0.00001
NM_000079.4(CHRNA1):c.735C>T (p.Phe245=) rs773397465 0.00001
NM_000079.4(CHRNA1):c.749G>A (p.Gly250Asp) rs1261346012 0.00001
NM_000079.4(CHRNA1):c.778+18G>A rs375471139 0.00001
NM_000079.4(CHRNA1):c.779-1_779insA rs771260711 0.00001
NM_000079.4(CHRNA1):c.838A>G (p.Ile280Val) rs1184577812 0.00001
NM_000079.4(CHRNA1):c.840C>T (p.Ile280=) rs754070026 0.00001
NM_000079.4(CHRNA1):c.860C>T (p.Thr287Met) rs370345788 0.00001
NM_000079.4(CHRNA1):c.924C>T (p.Ser308=) rs1175922060 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000135.4(FANCA):c.1006+10G>A rs762536802 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys) rs374835951 0.00001
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) rs755018069 0.00001
NM_000135.4(FANCA):c.1068C>G (p.Thr356=) rs1161525939 0.00001
NM_000135.4(FANCA):c.1077C>T (p.Tyr359=) rs2040108827 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.1084-18C>T rs368730853 0.00001
NM_000135.4(FANCA):c.1084-7A>T rs543350684 0.00001
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser) rs780833865 0.00001
NM_000135.4(FANCA):c.1137G>A (p.Leu379=) rs372829977 0.00001
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala) rs774319222 0.00001
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) rs769718381 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.1194C>T (p.Val398=) rs1158857420 0.00001
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781 0.00001
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg) rs769664248 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1221T>G (p.Leu407=) rs780963734 0.00001
NM_000135.4(FANCA):c.1225+7T>C rs200008791 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1226-6A>T rs200953509 0.00001
NM_000135.4(FANCA):c.1233G>A (p.Val411=) rs781735964 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.1257C>T (p.Phe419=) rs764140346 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.1284C>T (p.Val428=) rs780409039 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.1305C>T (p.Arg435=) rs756132296 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.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1360-15C>G rs773560865 0.00001
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553 0.00001
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro) rs2041098152 0.00001
NM_000135.4(FANCA):c.1380A>G (p.Arg460=) rs1035276734 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.1416C>T (p.Phe472=) rs750815711 0.00001
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144 0.00001
NM_000135.4(FANCA):c.1425G>A (p.Thr475=) rs1330646289 0.00001
NM_000135.4(FANCA):c.1440C>T (p.Leu480=) rs1401053307 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.1470+16C>T rs929828617 0.00001
NM_000135.4(FANCA):c.1471-16T>C rs1450990297 0.00001
NM_000135.4(FANCA):c.1471-3C>G rs1291307989 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886 0.00001
NM_000135.4(FANCA):c.1485C>T (p.His495=) rs773084743 0.00001
NM_000135.4(FANCA):c.1491C>T (p.Pro497=) rs979593313 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.1512C>T (p.Arg504=) rs1298473070 0.00001
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala) rs1218121624 0.00001
NM_000135.4(FANCA):c.1518C>A (p.Leu506=) rs781524409 0.00001
NM_000135.4(FANCA):c.1521C>T (p.Leu507=) rs2039775150 0.00001
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn) rs754123446 0.00001
NM_000135.4(FANCA):c.1563C>T (p.Leu521=) rs995956285 0.00001
NM_000135.4(FANCA):c.1567-15G>C rs748616829 0.00001
NM_000135.4(FANCA):c.1567-18T>C rs771520715 0.00001
NM_000135.4(FANCA):c.1567-4G>A rs1391630461 0.00001
NM_000135.4(FANCA):c.1567-7C>A rs780475585 0.00001
NM_000135.4(FANCA):c.1567-9T>A rs747184077 0.00001
NM_000135.4(FANCA):c.1587A>T (p.Gly529=) rs1300063021 0.00001
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr) rs761614742 0.00001
NM_000135.4(FANCA):c.1590C>G (p.Leu530=) rs773856680 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.1626+13G>C rs1341742486 0.00001
NM_000135.4(FANCA):c.1627-13G>T rs372205127 0.00001
NM_000135.4(FANCA):c.1627-15C>T rs779706968 0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 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.1689C>T (p.Asn563=) rs773446807 0.00001
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu) rs1032990637 0.00001
NM_000135.4(FANCA):c.1692C>T (p.Ile564=) rs1176095983 0.00001
NM_000135.4(FANCA):c.1695A>T (p.Pro565=) rs139181196 0.00001
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.1715+15C>T rs755381554 0.00001
NM_000135.4(FANCA):c.1716-10T>G rs1270971513 0.00001
NM_000135.4(FANCA):c.1725G>A (p.Arg575=) rs551108542 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791 0.00001
NM_000135.4(FANCA):c.1776+10C>T rs767506133 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.1777-10C>G rs781605892 0.00001
NM_000135.4(FANCA):c.1777-4A>G rs1422606508 0.00001
NM_000135.4(FANCA):c.177C>T (p.Ala59=) rs1439661268 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.1833T>C (p.Asp611=) rs749173228 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1842C>A (p.Pro614=) rs769546891 0.00001
NM_000135.4(FANCA):c.184del (p.Glu63fs) rs1260966020 0.00001
NM_000135.4(FANCA):c.1857C>T (p.Ser619=) rs754522096 0.00001
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) rs1041601770 0.00001
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) rs571449307 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.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.18C>T (p.Val6=) rs916719756 0.00001
NM_000135.4(FANCA):c.1900+1G>A rs1598120768 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.1938T>C (p.Ala646=) rs1429790431 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.2010T>C (p.Arg670=) rs1335322113 0.00001
NM_000135.4(FANCA):c.2015-8C>T rs747546976 0.00001
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr) rs1319264119 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2066G>A (p.Gly689Asp) rs769209218 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 0.00001
NM_000135.4(FANCA):c.2085C>T (p.Ser695=) rs746285925 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.2115C>T (p.Ser705=) rs1158246204 0.00001
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358 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.2142G>A (p.Arg714=) rs1387853957 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.2151+13G>A rs554897273 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.2152-18A>G rs760146323 0.00001
NM_000135.4(FANCA):c.2152-7T>C rs763531092 0.00001
NM_000135.4(FANCA):c.2167C>T (p.Leu723=) rs2039290580 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.2190G>A (p.Leu730=) rs745845683 0.00001
NM_000135.4(FANCA):c.2199C>T (p.Ala733=) rs757095786 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.2222+10C>T rs770711287 0.00001
NM_000135.4(FANCA):c.2222+14del rs1423390984 0.00001
NM_000135.4(FANCA):c.2222+17C>T rs755657610 0.00001
NM_000135.4(FANCA):c.2222+1G>A rs775388912 0.00001
NM_000135.4(FANCA):c.2223-15C>T rs775834091 0.00001
NM_000135.4(FANCA):c.2226G>A (p.Gln742=) rs1336946372 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.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2295C>G (p.Leu765=) rs1193622990 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.2316+19G>A rs1421219472 0.00001
NM_000135.4(FANCA):c.2316+7C>G rs1366206489 0.00001
NM_000135.4(FANCA):c.2317-6T>C rs760617819 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2326C>T (p.Leu776=) rs527300192 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.2448G>A (p.Ala816=) rs752705496 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.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2487C>T (p.Ser829=) rs776013293 0.00001
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950 0.00001
NM_000135.4(FANCA):c.2504+10T>G rs770043372 0.00001
NM_000135.4(FANCA):c.2517A>G (p.Ala839=) rs1325322271 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 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.2601+10C>G rs745601855 0.00001
NM_000135.4(FANCA):c.2601+15T>C rs373423046 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2601+20A>C rs557565599 0.00001
NM_000135.4(FANCA):c.2602-10T>C rs899604473 0.00001
NM_000135.4(FANCA):c.2602-20C>T rs752731568 0.00001
NM_000135.4(FANCA):c.2602-8T>C rs772897825 0.00001
NM_000135.4(FANCA):c.2602-9C>G rs1406509004 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 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.2613C>T (p.Leu871=) rs532032511 0.00001
NM_000135.4(FANCA):c.2628C>T (p.Phe876=) rs368987148 0.00001
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter) rs762804216 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.2700T>G (p.Ser900=) rs755783870 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.2730C>T (p.Leu910=) rs749774911 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) rs748454613 0.00001
NM_000135.4(FANCA):c.2748C>T (p.Phe916=) rs755154360 0.00001
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln) rs747220449 0.00001
NM_000135.4(FANCA):c.2778+14C>T rs767053728 0.00001
NM_000135.4(FANCA):c.2779-9C>G rs764825402 0.00001
NM_000135.4(FANCA):c.2786del (p.Tyr929fs) rs779480428 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.283+18T>A rs1266280397 0.00001
NM_000135.4(FANCA):c.283+9T>C rs779593295 0.00001
NM_000135.4(FANCA):c.284-9G>A rs367672895 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2852+8T>C rs763249422 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 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.2904G>T (p.Ser968=) rs568354015 0.00001
NM_000135.4(FANCA):c.2922C>T (p.Asp974=) rs756241886 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 0.00001
NM_000135.4(FANCA):c.2940G>A (p.Ala980=) rs769418220 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.2981+12A>G rs1416505835 0.00001
NM_000135.4(FANCA):c.2982-17T>C rs763475096 0.00001
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536 0.00001
NM_000135.4(FANCA):c.3003A>C (p.Ser1001=) rs2038619241 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.3067-20A>C rs1213920786 0.00001
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val) rs545999415 0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142 0.00001
NM_000135.4(FANCA):c.3108G>C (p.Val1036=) rs759859528 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.312G>A (p.Arg104=) rs937043976 0.00001
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr) rs747913731 0.00001
NM_000135.4(FANCA):c.3153T>C (p.Ile1051=) rs1401723593 0.00001
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=) rs778275451 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.3186G>A (p.Gly1062=) rs2038517320 0.00001
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys) rs776391208 0.00001
NM_000135.4(FANCA):c.318G>T (p.Gly106=) rs1288618851 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 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.3223C>T (p.Leu1075=) rs751987951 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.3239+18C>G rs781742623 0.00001
NM_000135.4(FANCA):c.3239+8C>G rs2038514547 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054 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.3300C>T (p.Pro1100=) rs1372873475 0.00001
NM_000135.4(FANCA):c.3321G>A (p.Gln1107=) rs1276452090 0.00001
NM_000135.4(FANCA):c.3349-14G>A rs1248372954 0.00001
NM_000135.4(FANCA):c.3349-17C>T rs962847137 0.00001
NM_000135.4(FANCA):c.3349-5T>C rs1055846604 0.00001
NM_000135.4(FANCA):c.3349-9C>G rs1463228706 0.00001
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664 0.00001
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968 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.3381A>G (p.Thr1127=) rs946344673 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.33G>C (p.Ser11=) rs1159682058 0.00001
NM_000135.4(FANCA):c.3409-16G>C rs1340274026 0.00001
NM_000135.4(FANCA):c.3409-4G>T rs2038401980 0.00001
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282 0.00001
NM_000135.4(FANCA):c.3447C>T (p.Ser1149=) rs2038400334 0.00001
NM_000135.4(FANCA):c.3448C>T (p.Leu1150=) rs369073173 0.00001
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547 0.00001
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=) rs768306527 0.00001
NM_000135.4(FANCA):c.3513+13T>C rs560352340 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.3513+7C>G rs2038397980 0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) rs765106818 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 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.3558G>A (p.Arg1186=) rs1248260786 0.00001
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=) rs781679210 0.00001
NM_000135.4(FANCA):c.3594G>A (p.Gln1198=) rs935013716 0.00001
NM_000135.4(FANCA):c.3612G>A (p.Arg1204=) rs762402959 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.3627-16G>A rs369154534 0.00001
NM_000135.4(FANCA):c.3627-4C>T rs2062172483 0.00001
NM_000135.4(FANCA):c.3627-5C>G rs1417894512 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr) rs1262639465 0.00001
NM_000135.4(FANCA):c.3651C>T (p.Ser1217=) rs1351099497 0.00001
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877 0.00001
NM_000135.4(FANCA):c.3660C>T (p.Pro1220=) rs751703958 0.00001
NM_000135.4(FANCA):c.3690G>A (p.Leu1230=) rs1369764790 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.3720A>G (p.Glu1240=) rs2062170339 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3736C>T (p.Leu1246=) rs2062169927 0.00001
NM_000135.4(FANCA):c.3738A>G (p.Leu1246=) rs2062169862 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.3765+16C>A rs745639466 0.00001
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.3768A>G (p.Leu1256=) rs747616573 0.00001
NM_000135.4(FANCA):c.3802C>T (p.Leu1268=) rs143982249 0.00001
NM_000135.4(FANCA):c.3804G>A (p.Leu1268=) rs1449170388 0.00001
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=) rs757641646 0.00001
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu) rs752800577 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) rs759514393 0.00001
NM_000135.4(FANCA):c.3822C>T (p.Thr1274=) rs1382340096 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.3857A>C (p.His1286Pro) rs138620653 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3861T>A (p.Val1287=) rs1227504086 0.00001
NM_000135.4(FANCA):c.3870A>G (p.Ala1290=) rs780156842 0.00001
NM_000135.4(FANCA):c.387G>A (p.Ala129=) rs1181727153 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_000135.4(FANCA):c.3951G>C (p.Arg1317=) rs1439529670 0.00001
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg) rs1439125894 0.00001
NM_000135.4(FANCA):c.3954C>G (p.Leu1318=) rs187297609 0.00001
NM_000135.4(FANCA):c.3960C>T (p.Leu1320=) rs541385700 0.00001
NM_000135.4(FANCA):c.3969C>T (p.Ala1323=) rs1337959697 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=) rs1446370085 0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His) rs1486155993 0.00001
NM_000135.4(FANCA):c.4011-3_4011-2del rs911481295 0.00001
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe) rs112734327 0.00001
NM_000135.4(FANCA):c.4029T>C (p.His1343=) rs745577614 0.00001
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln) rs761934804 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 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.414T>G (p.Thr138=) rs574311470 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.4183C>T (p.Leu1395=) rs780156946 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.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) rs1379441535 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.4254G>C (p.Val1418=) rs200284171 0.00001
NM_000135.4(FANCA):c.4264C>T (p.Leu1422=) rs753660236 0.00001
NM_000135.4(FANCA):c.427-6T>C rs1295402252 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.4329C>T (p.Ala1443=) rs371228419 0.00001
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val) rs2062029094 0.00001
NM_000135.4(FANCA):c.4338T>C (p.Ala1446=) rs746256466 0.00001
NM_000135.4(FANCA):c.441C>T (p.Ser147=) rs772133367 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.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.486C>T (p.Ser162=) rs2040845636 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.522+1G>T rs1365019056 0.00001
NM_000135.4(FANCA):c.522+8T>A rs764367299 0.00001
NM_000135.4(FANCA):c.523-20T>C rs773036631 0.00001
NM_000135.4(FANCA):c.546G>A (p.Val182=) rs766417293 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.561A>T (p.Val187=) rs1050053060 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.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164 0.00001
NM_000135.4(FANCA):c.589C>T (p.Leu197=) rs755202969 0.00001
NM_000135.4(FANCA):c.591G>A (p.Leu197=) rs1567650751 0.00001
NM_000135.4(FANCA):c.596+5C>T rs758345423 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.603C>T (p.Pro201=) rs542064386 0.00001
NM_000135.4(FANCA):c.606C>T (p.Asp202=) rs1431969235 0.00001
NM_000135.4(FANCA):c.60G>A (p.Arg20=) rs1321607523 0.00001
NM_000135.4(FANCA):c.612T>C (p.His204=) rs1226994862 0.00001
NM_000135.4(FANCA):c.630C>T (p.Leu210=) rs781089592 0.00001
NM_000135.4(FANCA):c.642G>C (p.Leu214=) rs751215437 0.00001
NM_000135.4(FANCA):c.660G>C (p.Gln220His) rs1555571174 0.00001
NM_000135.4(FANCA):c.675C>T (p.Cys225=) rs367717307 0.00001
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu) rs1598177148 0.00001
NM_000135.4(FANCA):c.684T>C (p.Ala228=) rs1354391809 0.00001
NM_000135.4(FANCA):c.687C>T (p.Asp229=) rs1598177104 0.00001
NM_000135.4(FANCA):c.693C>T (p.Ala231=) rs779839381 0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000135.4(FANCA):c.69C>T (p.Ala23=) rs746429608 0.00001
NM_000135.4(FANCA):c.700A>G (p.Met234Val) rs1042676101 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.710-8T>C rs181310336 0.00001
NM_000135.4(FANCA):c.769G>A (p.Val257Met) rs777311234 0.00001
NM_000135.4(FANCA):c.79+18G>C rs1214190329 0.00001
NM_000135.4(FANCA):c.79+1G>A rs1483028018 0.00001
NM_000135.4(FANCA):c.79+8G>T rs1210341859 0.00001
NM_000135.4(FANCA):c.792+15C>G rs199866285 0.00001
NM_000135.4(FANCA):c.793-11T>C rs1030329914 0.00001
NM_000135.4(FANCA):c.793-12C>G rs746312984 0.00001
NM_000135.4(FANCA):c.793-15A>G rs772612378 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.80-4G>T rs747881254 0.00001
NM_000135.4(FANCA):c.80-8C>T rs749080227 0.00001
NM_000135.4(FANCA):c.807A>C (p.Val269=) rs766352671 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.827-16C>G rs758496205 0.00001
NM_000135.4(FANCA):c.827-17C>G rs1483669797 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.856C>T (p.Gln286Ter) rs1291524243 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.891C>T (p.Cys297=) rs1210939756 0.00001
NM_000135.4(FANCA):c.893+9C>T rs1313828842 0.00001
NM_000135.4(FANCA):c.894-10G>A rs751912856 0.00001
NM_000135.4(FANCA):c.894-20T>C rs1475016373 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.894-9C>T rs376093765 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.90C>G (p.Val30=) rs532713581 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.927T>C (p.Ser309=) rs780226614 0.00001
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg) rs2041101472 0.00001
NM_000135.4(FANCA):c.969C>G (p.Thr323=) rs747408661 0.00001
NM_000135.4(FANCA):c.96G>A (p.Arg32=) rs1381349863 0.00001
NM_000135.4(FANCA):c.982C>G (p.Leu328Val) rs779244841 0.00001
NM_000135.4(FANCA):c.990C>T (p.His330=) rs1413024545 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.-12G>A rs779454514 0.00001
NM_000136.3(FANCC):c.-13C>T rs1057521107 0.00001
NM_000136.3(FANCC):c.-2A>G rs773045474 0.00001
NM_000136.3(FANCC):c.-48G>A rs1283535718 0.00001
NM_000136.3(FANCC):c.-61C>G rs1048489323 0.00001
NM_000136.3(FANCC):c.-64G>C rs1343004289 0.00001
NM_000136.3(FANCC):c.-71G>A rs1296685064 0.00001
NM_000136.3(FANCC):c.-76T>G rs1304078154 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.1035T>G (p.Ser345=) rs1057522277 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.1072+14G>C rs763466918 0.00001
NM_000136.3(FANCC):c.1073-8A>G rs1256220248 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.108_109dup (p.His37fs) rs1057517131 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.1152T>C (p.His384=) rs748127093 0.00001
NM_000136.3(FANCC):c.1155-16T>G rs1202931082 0.00001
NM_000136.3(FANCC):c.1179C>T (p.Ser393=) rs1328914149 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.1275C>G (p.Leu425=) rs767126985 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.1305G>C (p.Gly435=) rs765092951 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 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.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.1330-4C>G rs762141353 0.00001
NM_000136.3(FANCC):c.1330-9A>G rs1264460608 0.00001
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) rs760983825 0.00001
NM_000136.3(FANCC):c.1350G>A (p.Leu450=) rs892063660 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.1365A>C (p.Ala455=) rs1463739066 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.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1437C>T (p.Leu479=) rs765396609 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.1488C>G (p.Leu496=) rs1057520505 0.00001
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met) rs779982610 0.00001
NM_000136.3(FANCC):c.1512C>T (p.Ile504=) rs746940880 0.00001
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187 0.00001
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.1534-10C>T rs1356632872 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.1534-20C>T rs1564635514 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.1587C>T (p.Thr529=) rs1015147630 0.00001
NM_000136.3(FANCC):c.1588T>C (p.Leu530=) rs988780618 0.00001
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354 0.00001
NM_000136.3(FANCC):c.1594A>C (p.Arg532=) rs764649916 0.00001
NM_000136.3(FANCC):c.15A>G (p.Ser5=) rs778408360 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.1628C>A (p.Ser543Ter) rs867319477 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.165+10G>A rs767721720 0.00001
NM_000136.3(FANCC):c.165+12A>G rs200547296 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 0.00001
NM_000136.3(FANCC):c.166-5C>T rs753820400 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.1660C>T (p.Leu554=) rs769743634 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.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr) rs4647419 0.00001
NM_000136.3(FANCC):c.250+18G>A rs751544011 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.291A>G (p.Leu97=) rs1216348860 0.00001
NM_000136.3(FANCC):c.321A>G (p.Gln107=) rs1441770870 0.00001
NM_000136.3(FANCC):c.327A>G (p.Lys109=) rs1399574459 0.00001
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro) rs777731560 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.345G>A (p.Gln115=) rs1031713372 0.00001
NM_000136.3(FANCC):c.346-12T>C rs769706832 0.00001
NM_000136.3(FANCC):c.346-8T>C rs747950159 0.00001
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp) rs1282106098 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 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.456+8T>C rs761639538 0.00001
NM_000136.3(FANCC):c.457-9G>A rs762529432 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.468A>G (p.Ser156=) rs148616725 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.474G>A (p.Ala158=) rs768342908 0.00001
NM_000136.3(FANCC):c.501T>C (p.Asn167=) rs1057520284 0.00001
NM_000136.3(FANCC):c.510C>T (p.Asn170=) rs777734585 0.00001
NM_000136.3(FANCC):c.521+10_521+13del rs1372625836 0.00001
NM_000136.3(FANCC):c.521+5G>C rs1301899973 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 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.535C>T (p.Arg179Ter) rs769039987 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.543G>A (p.Ala181=) rs758919360 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.576C>T (p.Thr192=) rs759392396 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.678C>T (p.Ala226=) rs775845203 0.00001
NM_000136.3(FANCC):c.679A>G (p.Ile227Val) rs864622550 0.00001
NM_000136.3(FANCC):c.686+8G>A rs1312864289 0.00001
NM_000136.3(FANCC):c.687-15A>C rs765327075 0.00001
NM_000136.3(FANCC):c.690G>A (p.Lys230=) rs199744457 0.00001
NM_000136.3(FANCC):c.693G>A (p.Lys231=) rs955961811 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.843+9del rs1827516873 0.00001
NM_000136.3(FANCC):c.844-14T>C rs759280421 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 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.882T>C (p.Val294=) rs750639831 0.00001
NM_000136.3(FANCC):c.896+11C>G rs1012591196 0.00001
NM_000136.3(FANCC):c.897-10C>T rs955495354 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.916_917del (p.Asp306fs) rs779806106 0.00001
NM_000136.3(FANCC):c.917A>T (p.Asp306Val) rs1383010376 0.00001
NM_000136.3(FANCC):c.924C>G (p.Ala308=) rs864622225 0.00001
NM_000136.3(FANCC):c.943A>G (p.Ile315Val) rs587779910 0.00001
NM_000136.3(FANCC):c.956C>T (p.Thr319Met) rs745910444 0.00001
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647 0.00001
NM_000136.3(FANCC):c.996+17A>G rs767279490 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.996+6T>C rs200934877 0.00001
NM_000136.3(FANCC):c.996+9dup rs781108327 0.00001
NM_000136.3(FANCC):c.997-12A>G rs1368651985 0.00001
NM_000136.3(FANCC):c.997-6T>C rs1057524604 0.00001
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191 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.546G>T (p.Arg182=) rs115322362 0.00001
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) rs559821440 0.00001
NM_000751.3(CHRND):c.1084T>A (p.Ser362Thr) rs778769803 0.00001
NM_000751.3(CHRND):c.1088G>A (p.Arg363His) rs748108743 0.00001
NM_000751.3(CHRND):c.1122G>A (p.Leu374=) rs1438844656 0.00001
NM_000751.3(CHRND):c.1143G>C (p.Leu381=) rs1464265235 0.00001
NM_000751.3(CHRND):c.1199T>C (p.Met400Thr) rs774443865 0.00001
NM_000751.3(CHRND):c.1200G>C (p.Met400Ile) rs1691804529 0.00001
NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys) rs1011570439 0.00001
NM_000751.3(CHRND):c.1237C>T (p.Arg413Cys) rs1242056715 0.00001
NM_000751.3(CHRND):c.129G>A (p.Arg43=) rs765106484 0.00001
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_000751.3(CHRND):c.132C>T (p.Pro44=) rs774771779 0.00001
NM_000751.3(CHRND):c.1330T>C (p.Phe444Leu) rs772140028 0.00001
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr) rs573680102 0.00001
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr) rs1085307559 0.00001
NM_000751.3(CHRND):c.1434G>A (p.Thr478=) rs554876874 0.00001
NM_000751.3(CHRND):c.1452C>A (p.Gly484=) rs1221932092 0.00001
NM_000751.3(CHRND):c.1462A>G (p.Ile488Val) rs1317082231 0.00001
NM_000751.3(CHRND):c.1497C>G (p.Pro499=) rs772552126 0.00001
NM_000751.3(CHRND):c.1527C>T (p.Tyr509=) rs572853269 0.00001
NM_000751.3(CHRND):c.1544G>A (p.Arg515His) rs570911554 0.00001
NM_000751.3(CHRND):c.155T>A (p.Val52Glu) rs1260266473 0.00001
NM_000751.3(CHRND):c.159C>T (p.Asp53=) rs370725931 0.00001
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe) rs752410720 0.00001
NM_000751.3(CHRND):c.199-12G>A rs937840228 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys) rs121909509 0.00001
NM_000751.3(CHRND):c.243+1G>A rs751237539 0.00001
NM_000751.3(CHRND):c.244G>A (p.Gly82Ser) rs794727630 0.00001
NM_000751.3(CHRND):c.264G>C (p.Leu88=) rs1029592483 0.00001
NM_000751.3(CHRND):c.314C>T (p.Pro105Leu) rs769160054 0.00001
NM_000751.3(CHRND):c.375C>T (p.Ile125=) rs756324982 0.00001
NM_000751.3(CHRND):c.380A>G (p.Tyr127Cys) rs1231032358 0.00001
NM_000751.3(CHRND):c.435C>T (p.Ala145=) rs1691569899 0.00001
NM_000751.3(CHRND):c.446C>T (p.Ser149Phe) rs762904291 0.00001
NM_000751.3(CHRND):c.447C>T (p.Ser149=) rs371097455 0.00001
NM_000751.3(CHRND):c.510-16C>A rs1038117512 0.00001
NM_000751.3(CHRND):c.524C>T (p.Thr175Met) rs752113659 0.00001
NM_000751.3(CHRND):c.571C>T (p.Arg191Cys) rs778217557 0.00001
NM_000751.3(CHRND):c.606T>C (p.Pro202=) rs762417696 0.00001
NM_000751.3(CHRND):c.624C>T (p.Asn208=) rs1473541483 0.00001
NM_000751.3(CHRND):c.647G>A (p.Arg216Gln) rs746959201 0.00001
NM_000751.3(CHRND):c.662A>G (p.Asn221Ser) rs774497252 0.00001
NM_000751.3(CHRND):c.70G>A (p.Glu24Lys) rs144310284 0.00001
NM_000751.3(CHRND):c.723C>G (p.Ile241Met) rs1416558563 0.00001
NM_000751.3(CHRND):c.769T>C (p.Cys257Arg) rs776218605 0.00001
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser) rs373187583 0.00001
NM_000751.3(CHRND):c.84G>A (p.Leu28=) rs1323332117 0.00001
NM_000751.3(CHRND):c.88C>T (p.Arg30Trp) rs1047325384 0.00001
NM_000751.3(CHRND):c.890A>G (p.Lys297Arg) rs187055404 0.00001
NM_000751.3(CHRND):c.899C>A (p.Pro300His) rs145981548 0.00001
NM_000751.3(CHRND):c.932+3G>A rs772540464 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000751.3(CHRND):c.945C>T (p.Phe315=) rs777931139 0.00001
NM_000751.3(CHRND):c.957G>A (p.Leu319=) rs1691699126 0.00001
NM_000751.3(CHRND):c.984C>G (p.Val328=) rs763965619 0.00001
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly) rs1422244944 0.00001
NM_001018113.3(FANCB):c.111T>C (p.Pro37=) rs1172968993 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.1149A>G (p.Lys383=) rs751649474 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.1225C>T (p.Arg409Trp) rs750569208 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.1314A>C (p.Ser438=) rs2092408394 0.00001
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr) rs1313938907 0.00001
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 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.1552T>A (p.Phe518Ile) rs373632536 0.00001
NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln) rs1379342414 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.1659G>A (p.Thr553=) rs767952529 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.1746A>G (p.Thr582=) rs1228686996 0.00001
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=) rs745472535 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.1894T>G (p.Tyr632Asp) rs149387792 0.00001
NM_001018113.3(FANCB):c.18A>G (p.Ala6=) rs2092465606 0.00001
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu) rs776713934 0.00001
NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val) rs370765798 0.00001
NM_001018113.3(FANCB):c.1928-20G>T rs780575945 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.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_001018113.3(FANCB):c.2379A>G (p.Gly793=) rs1374912480 0.00001
NM_001018113.3(FANCB):c.2391C>T (p.Val797=) rs778731279 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.2563A>G (p.Lys855Glu) rs773885877 0.00001
NM_001018113.3(FANCB):c.318A>G (p.Glu106=) rs1215227353 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.609A>C (p.Ser203=) rs1206454126 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.667T>C (p.Leu223=) rs1308832555 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.884G>A (p.Gly295Glu) rs1270593506 0.00001
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421 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.923C>T (p.Ala308Val) rs1242186487 0.00001
NM_001018113.3(FANCB):c.939A>G (p.Lys313=) rs767512088 0.00001
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp) rs1246382467 0.00001
NM_001018115.3(FANCD2):c.1047A>G (p.Val349=) rs761258624 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 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.1310C>T (p.Ser437Leu) rs1349417700 0.00001
NM_001018115.3(FANCD2):c.1311G>A (p.Ser437=) rs564577177 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.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile) rs761454597 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.1546-7T>A rs548887691 0.00001
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln) rs1249790407 0.00001
NM_001018115.3(FANCD2):c.1671G>A (p.Leu557=) rs746726118 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile) rs773483393 0.00001
NM_001018115.3(FANCD2):c.1758G>A (p.Ala586=) rs370284275 0.00001
NM_001018115.3(FANCD2):c.1767-7T>C rs756066137 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.2085T>C (p.Ile695=) rs760296624 0.00001
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val) rs201243424 0.00001
NM_001018115.3(FANCD2):c.2175G>A (p.Val725=) rs776116877 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.2265A>G (p.Leu755=) rs376828609 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.2386-15A>G rs542904509 0.00001
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val) rs1305213202 0.00001
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 0.00001
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.2494+9A>G rs754665005 0.00001
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys) rs375506300 0.00001
NM_001018115.3(FANCD2):c.2577A>G (p.Ser859=) rs772038476 0.00001
NM_001018115.3(FANCD2):c.2605+20C>G rs1429678820 0.00001
NM_001018115.3(FANCD2):c.2606-7A>G rs757102395 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.2989C>T (p.Arg997Trp) rs587778330 0.00001
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln) rs587778331 0.00001
NM_001018115.3(FANCD2):c.3012C>G (p.Leu1004=) rs773625038 0.00001
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3222T>C (p.Ala1074=) rs1238683323 0.00001
NM_001018115.3(FANCD2):c.3224+13G>C rs764386433 0.00001
NM_001018115.3(FANCD2):c.3224+8T>A rs1412513898 0.00001
NM_001018115.3(FANCD2):c.3225-13T>C rs996065278 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.3299_3300del (p.Gln1100fs) rs770686014 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.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser) rs764205355 0.00001
NM_001018115.3(FANCD2):c.3543G>A (p.Gln1181=) rs138409505 0.00001
NM_001018115.3(FANCD2):c.3549T>C (p.His1183=) rs758749466 0.00001
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=) rs745765337 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.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.376A>G (p.Ser126Gly) rs764507146 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.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys) rs772201181 0.00001
NM_001018115.3(FANCD2):c.3888+2T>G rs1419879344 0.00001
NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg) rs756078235 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.3963+8C>T rs201623111 0.00001
NM_001018115.3(FANCD2):c.4047G>A (p.Gln1349=) rs370343891 0.00001
NM_001018115.3(FANCD2):c.4048G>A (p.Asp1350Asn) rs772169028 0.00001
NM_001018115.3(FANCD2):c.4056A>G (p.Arg1352=) rs1336906399 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.4140T>C (p.Cys1380=) rs954149471 0.00001
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4185+20A>G rs770768796 0.00001
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys) rs753272541 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+22_4281+29del rs878855172 0.00001
NM_001018115.3(FANCD2):c.4281+42C>T rs1415649585 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.438+8T>G rs762114353 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.695+10C>T rs757359450 0.00001
NM_001018115.3(FANCD2):c.695+18C>T rs767119830 0.00001
NM_001018115.3(FANCD2):c.696-1G>A rs954555240 0.00001
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro) rs760574880 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001018115.3(FANCD2):c.778T>C (p.Leu260=) rs756621826 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 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.813G>A (p.Ser271=) rs773072936 0.00001
NM_001018115.3(FANCD2):c.828G>A (p.Glu276=) rs1246470195 0.00001
NM_001018115.3(FANCD2):c.888+8C>G rs201124351 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 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_001018115.3(FANCD2):c.989+9C>T rs2086907710 0.00001
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) rs72762644 0.00001
NM_001113378.2(FANCI):c.1026A>G (p.Gln342=) rs752386484 0.00001
NM_001113378.2(FANCI):c.1038C>T (p.Gly346=) rs1465922906 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.1185A>C (p.Pro395=) rs371838837 0.00001
NM_001113378.2(FANCI):c.1212T>C (p.Ile404=) rs749893514 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.1386G>A (p.Leu462=) rs1427057962 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.1479T>G (p.Leu493=) rs775006497 0.00001
NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys) rs554471987 0.00001
NM_001113378.2(FANCI):c.1513-13G>C rs1451472127 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.1557T>C (p.Leu519=) rs138767485 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.1680G>A (p.Gln560=) rs1181466139 0.00001
NM_001113378.2(FANCI):c.1698+11T>C rs1349464743 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.1821+9G>A rs1596292257 0.00001
NM_001113378.2(FANCI):c.1824G>A (p.Gly608=) rs777877618 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.18A>G (p.Leu6=) rs1344119716 0.00001
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=) rs770437879 0.00001
NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe) rs776139524 0.00001
NM_001113378.2(FANCI):c.1993-7C>G rs773420007 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.228G>A (p.Val76=) rs1296744474 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.2422A>T (p.Lys808Ter) rs375656231 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.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2520C>G (p.Arg840=) rs1210098933 0.00001
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) rs777269384 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp) rs1361710673 0.00001
NM_001113378.2(FANCI):c.2577G>C (p.Val859=) rs562877308 0.00001
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) rs199758631 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.2673A>T (p.Ser891=) rs1567170286 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.2721G>A (p.Leu907=) rs369902896 0.00001
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) rs748546731 0.00001
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter) rs1303324683 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.288+13A>T rs748684931 0.00001
NM_001113378.2(FANCI):c.288+15_288+16insGT rs770691019 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.3058+10C>G rs1375877085 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3069G>A (p.Leu1023=) rs777093571 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.3186+7_3186+8insG rs762412096 0.00001
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) rs763822728 0.00001
NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=) rs1331419585 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.3252C>T (p.Val1084=) rs1270769440 0.00001
NM_001113378.2(FANCI):c.3255+8T>C rs200754997 0.00001
NM_001113378.2(FANCI):c.3255+9T>A rs1596324771 0.00001
NM_001113378.2(FANCI):c.3256-9T>C rs1464839356 0.00001
NM_001113378.2(FANCI):c.3273G>A (p.Gln1091=) rs147496890 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.3350-11T>C rs779052518 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.33A>G (p.Glu11=) rs878854180 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.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.3538-10T>C rs1415270918 0.00001
NM_001113378.2(FANCI):c.3561C>T (p.Ser1187=) rs748619003 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.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3594G>A (p.Val1198=) rs986193169 0.00001
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala) rs759758760 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro) rs373184027 0.00001
NM_001113378.2(FANCI):c.3652-14T>G rs372032678 0.00001
NM_001113378.2(FANCI):c.3652-6C>G rs752433847 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 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.3675T>C (p.Tyr1225=) rs768895822 0.00001
NM_001113378.2(FANCI):c.3678G>A (p.Thr1226=) rs748187517 0.00001
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) rs751025656 0.00001
NM_001113378.2(FANCI):c.3721-1G>C rs1173483373 0.00001
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile) rs1321885310 0.00001
NM_001113378.2(FANCI):c.3801T>G (p.Leu1267=) rs993279086 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.3834C>T (p.His1278=) rs1450412741 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+16T>G rs1260139637 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.3925-10C>G rs1308242761 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.3954C>T (p.Asn1318=) rs778130460 0.00001
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met) rs916916820 0.00001
NM_001113378.2(FANCI):c.39A>T (p.Thr13=) rs201981373 0.00001
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) rs768553208 0.00001
NM_001113378.2(FANCI):c.411G>A (p.Leu137=) rs770909223 0.00001
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met) rs1161378135 0.00001
NM_001113378.2(FANCI):c.417G>A (p.Thr139=) rs776382823 0.00001
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) rs1410323660 0.00001
NM_001113378.2(FANCI):c.445+13C>T rs369924984 0.00001
NM_001113378.2(FANCI):c.446-19G>A rs775410661 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.511C>T (p.Gln171Ter) rs771312042 0.00001
NM_001113378.2(FANCI):c.538A>T (p.Met180Leu) rs1233794193 0.00001
NM_001113378.2(FANCI):c.546-6C>T rs754929965 0.00001
NM_001113378.2(FANCI):c.558G>T (p.Leu186=) rs746658213 0.00001
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) rs1296106146 0.00001
NM_001113378.2(FANCI):c.609C>T (p.Ser203=) rs762005980 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.669+8T>C rs942269232 0.00001
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) rs749779839 0.00001
NM_001113378.2(FANCI):c.735T>C (p.Asn245=) rs1230412125 0.00001
NM_001113378.2(FANCI):c.755+11T>C rs763895201 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.837C>T (p.Ile279=) rs2053064958 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.924C>T (p.Phe308=) rs1201490769 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+11A>T rs759815521 0.00001
NM_001113378.2(FANCI):c.975+3A>G rs773615217 0.00001
NM_001113378.2(FANCI):c.976-9A>G rs1350162211 0.00001
NM_001113378.2(FANCI):c.999G>A (p.Ser333=) rs367991076 0.00001
NM_001113525.2(ZNF276):c.*1047G>C rs372364590 0.00001
NM_001113525.2(ZNF276):c.*1063G>A rs766594215 0.00001
NM_001113525.2(ZNF276):c.*1218G>A rs1339996571 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.*1311C>T rs1392135704 0.00001
NM_001113525.2(ZNF276):c.*1738dup rs755153673 0.00001
NM_001113525.2(ZNF276):c.*1739G>A rs201323033 0.00001
NM_001113525.2(ZNF276):c.*1863G>A rs374510260 0.00001
NM_001113525.2(ZNF276):c.*473G>A rs2062032586 0.00001
NM_001113525.2(ZNF276):c.*883C>T rs370080063 0.00001
NM_001271938.2(MEGF8):c.123A>G (p.Pro41=) rs964840099 0.00001
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 0.00001
NM_001271938.2(MEGF8):c.1791T>C (p.Cys597=) rs777831498 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.3378G>A (p.Val1126=) rs780556649 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.3603C>T (p.Asn1201=) rs540512909 0.00001
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys) rs377750684 0.00001
NM_001271938.2(MEGF8):c.3804C>T (p.Leu1268=) rs780442723 0.00001
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) rs1229026252 0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292 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.5583A>C (p.Gly1861=) rs746270596 0.00001
NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu) rs766493787 0.00001
NM_001271938.2(MEGF8):c.5853C>A (p.Thr1951=) rs754567747 0.00001
NM_001271938.2(MEGF8):c.6059-16C>T rs760323076 0.00001
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780 0.00001
NM_001271938.2(MEGF8):c.610C>T (p.Leu204=) rs1351465017 0.00001
NM_001271938.2(MEGF8):c.6261C>T (p.Ser2087=) rs2039558834 0.00001
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716 0.00001
NM_001271938.2(MEGF8):c.6482-9C>T rs776227273 0.00001
NM_001271938.2(MEGF8):c.6693A>C (p.Ser2231=) rs746097325 0.00001
NM_001271938.2(MEGF8):c.6739C>T (p.Arg2247Cys) rs1438199181 0.00001
NM_001271938.2(MEGF8):c.6936C>A (p.Ile2312=) rs764031754 0.00001
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=) rs754666704 0.00001
NM_001271938.2(MEGF8):c.7155C>T (p.His2385=) rs775919574 0.00001
NM_001271938.2(MEGF8):c.7368G>A (p.Thr2456=) rs779163527 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_001271938.2(MEGF8):c.948C>A (p.Gly316=) rs971549656 0.00001
NM_001278689.2(EOGT):c.1153-3C>T rs1465028816 0.00001
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=) rs527394057 0.00001
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=) rs750519290 0.00001
NM_001278689.2(EOGT):c.1440C>T (p.Gly480=) rs778355816 0.00001
NM_001278689.2(EOGT):c.1488C>T (p.Phe496=) rs771945573 0.00001
NM_001278689.2(EOGT):c.1524T>C (p.Ala508=) rs1575699109 0.00001
NM_001278689.2(EOGT):c.308G>T (p.Gly103Val) rs778771949 0.00001
NM_001278689.2(EOGT):c.730G>T (p.Val244Phe) rs1386656563 0.00001
NM_001278689.2(EOGT):c.831+2T>C rs1559604548 0.00001
NM_001346754.2(PIGW):c.1027C>G (p.Leu343Val) rs761421862 0.00001
NM_001346754.2(PIGW):c.1066G>A (p.Val356Ile) rs757289253 0.00001
NM_001346754.2(PIGW):c.1082T>A (p.Val361Glu) rs551293655 0.00001
NM_001346754.2(PIGW):c.1096C>T (p.Arg366Ter) rs747591955 0.00001
NM_001346754.2(PIGW):c.1123A>G (p.Ile375Val) rs1267632826 0.00001
NM_001346754.2(PIGW):c.1136C>A (p.Ala379Asp) rs1183657483 0.00001
NM_001346754.2(PIGW):c.1177A>G (p.Ile393Val) rs546733529 0.00001
NM_001346754.2(PIGW):c.1210G>A (p.Gly404Arg) rs200125663 0.00001
NM_001346754.2(PIGW):c.1282G>A (p.Val428Ile) rs1198359147 0.00001
NM_001346754.2(PIGW):c.1306C>T (p.Pro436Ser) rs752621297 0.00001
NM_001346754.2(PIGW):c.1376C>T (p.Thr459Ile) rs749727512 0.00001
NM_001346754.2(PIGW):c.1396G>A (p.Val466Ile) rs2074174413 0.00001
NM_001346754.2(PIGW):c.1448A>G (p.Tyr483Cys) rs757082131 0.00001
NM_001346754.2(PIGW):c.1492G>A (p.Asp498Asn) rs1427870747 0.00001
NM_001346754.2(PIGW):c.1507T>C (p.Phe503Leu) rs1403836098 0.00001
NM_001346754.2(PIGW):c.153T>C (p.Pro51=) rs748068199 0.00001
NM_001346754.2(PIGW):c.155C>T (p.Thr52Ile) rs1276450545 0.00001
NM_001346754.2(PIGW):c.295C>T (p.Arg99Ter) rs745493713 0.00001
NM_001346754.2(PIGW):c.307T>C (p.Cys103Arg) rs762575873 0.00001
NM_001346754.2(PIGW):c.313G>A (p.Ala105Thr) rs752927440 0.00001
NM_001346754.2(PIGW):c.320T>G (p.Leu107Arg) rs148520565 0.00001
NM_001346754.2(PIGW):c.397C>T (p.Arg133Cys) rs1292555631 0.00001
NM_001346754.2(PIGW):c.424A>G (p.Ile142Val) rs1156430576 0.00001
NM_001346754.2(PIGW):c.462A>G (p.Arg154=) rs1170311490 0.00001
NM_001346754.2(PIGW):c.512dup (p.Gly172fs) rs1255315606 0.00001
NM_001346754.2(PIGW):c.560G>A (p.Arg187Lys) rs544953074 0.00001
NM_001346754.2(PIGW):c.599C>T (p.Thr200Ile) rs753730055 0.00001
NM_001346754.2(PIGW):c.624A>G (p.Pro208=) rs776949283 0.00001
NM_001346754.2(PIGW):c.637G>A (p.Gly213Arg) rs145283085 0.00001
NM_001346754.2(PIGW):c.642C>T (p.Ile214=) rs775786836 0.00001
NM_001346754.2(PIGW):c.656T>C (p.Ile219Thr) rs1165869015 0.00001
NM_001346754.2(PIGW):c.727A>G (p.Ile243Val) rs752393681 0.00001
NM_001346754.2(PIGW):c.777T>C (p.Asn259=) rs774528615 0.00001
NM_001346754.2(PIGW):c.799G>A (p.Gly267Ser) rs765071059 0.00001
NM_001346754.2(PIGW):c.809T>C (p.Val270Ala) rs1305809089 0.00001
NM_001346754.2(PIGW):c.824C>G (p.Ala275Gly) rs560786982 0.00001
NM_001346754.2(PIGW):c.894A>G (p.Leu298=) rs1483319678 0.00001
NM_001346754.2(PIGW):c.910G>A (p.Glu304Lys) rs763678894 0.00001
NM_001346754.2(PIGW):c.951G>T (p.Met317Ile) rs756600566 0.00001
NM_001346754.2(PIGW):c.978G>T (p.Met326Ile) rs1367171449 0.00001
NM_001374353.1(GLI2):c.120G>A (p.Ala40=) rs202130125 0.00001
NM_001374353.1(GLI2):c.123A>G (p.Ala41=) rs200321870 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.1519C>T (p.Leu507=) rs1205997619 0.00001
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly) rs561810561 0.00001
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00001
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser) rs531807595 0.00001
NM_001374353.1(GLI2):c.2484C>T (p.Arg828=) rs1190519823 0.00001
NM_001374353.1(GLI2):c.257C>T (p.Pro86Leu) rs757479194 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 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.2884C>T (p.Leu962=) rs1345329176 0.00001
NM_001374353.1(GLI2):c.2957A>C (p.Asp986Ala) rs930268229 0.00001
NM_001374353.1(GLI2):c.3051C>T (p.Asn1017=) rs751735227 0.00001
NM_001374353.1(GLI2):c.3066C>T (p.Ala1022=) rs1472557461 0.00001
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile) rs200999705 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.4093C>T (p.Arg1365Cys) rs761959609 0.00001
NM_001374353.1(GLI2):c.4122G>C (p.Gln1374His) rs1489027653 0.00001
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val) rs577126364 0.00001
NM_001374353.1(GLI2):c.4350G>A (p.Gln1450=) rs1683233094 0.00001
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514 0.00001
NM_001374353.1(GLI2):c.819C>T (p.Tyr273=) rs527693910 0.00001
NM_001374353.1(GLI2):c.841C>A (p.Leu281Ile) rs1558923649 0.00001
NM_001374353.1(GLI2):c.879C>T (p.Pro293=) rs1318325355 0.00001
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.12T>C (p.Asn4=) rs758604225 0.00001
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser) rs746628829 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.1874A>G (p.Asn625Ser) rs775426461 0.00001
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256 0.00001
NM_001429.4(EP300):c.206G>A (p.Gly69Asp) rs370355846 0.00001
NM_001429.4(EP300):c.2078T>C (p.Met693Thr) rs199636064 0.00001
NM_001429.4(EP300):c.2145T>C (p.Phe715=) rs750344330 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser) rs374502005 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.271C>T (p.Pro91Ser) rs138538553 0.00001
NM_001429.4(EP300):c.2975C>A (p.Thr992Asn) rs760974878 0.00001
NM_001429.4(EP300):c.2997+12G>A rs372770495 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.3501+17A>G rs774004879 0.00001
NM_001429.4(EP300):c.3502-9C>A rs752128445 0.00001
NM_001429.4(EP300):c.3573T>C (p.Tyr1191=) rs565779970 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.3875-8A>C rs747796024 0.00001
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val) rs1448116681 0.00001
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=) rs373428278 0.00001
NM_001429.4(EP300):c.469C>A (p.Pro157Thr) rs748538778 0.00001
NM_001429.4(EP300):c.471A>G (p.Pro157=) rs770598337 0.00001
NM_001429.4(EP300):c.4842T>C (p.Asp1614=) rs755816596 0.00001
NM_001429.4(EP300):c.5280G>A (p.Lys1760=) rs148892028 0.00001
NM_001429.4(EP300):c.5440C>A (p.Arg1814=) rs757325753 0.00001
NM_001429.4(EP300):c.5709C>T (p.Gly1903=) rs200728751 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.6225C>T (p.His2075=) rs543501228 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 0.00001
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr) rs778354178 0.00001
NM_001429.4(EP300):c.650A>G (p.Asn217Ser) rs139130083 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001429.4(EP300):c.6582A>G (p.Gln2194=) rs761195313 0.00001
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser) rs201369756 0.00001
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259 0.00001
NM_001999.4(FBN2):c.1011C>T (p.Thr337=) rs781086796 0.00001
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly) rs761066631 0.00001
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln) rs773969876 0.00001
NM_001999.4(FBN2):c.1079-14T>G rs754310681 0.00001
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys) rs759013590 0.00001
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met) rs371826887 0.00001
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly) rs763202121 0.00001
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys) rs1382726763 0.00001
NM_001999.4(FBN2):c.1260A>C (p.Gly420=) rs766241911 0.00001
NM_001999.4(FBN2):c.126G>A (p.Pro42=) rs771657289 0.00001
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile) rs749969520 0.00001
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser) rs1173562709 0.00001
NM_001999.4(FBN2):c.1338C>G (p.Gly446=) rs1060504933 0.00001
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140 0.00001
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu) rs376096770 0.00001
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050 0.00001
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser) rs200850552 0.00001
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln) rs1194684025 0.00001
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111 0.00001
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val) rs753734866 0.00001
NM_001999.4(FBN2):c.1603+7T>C rs1477450908 0.00001
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr) rs1456682417 0.00001
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=) rs1487989552 0.00001
NM_001999.4(FBN2):c.1716A>G (p.Ala572=) rs771782180 0.00001
NM_001999.4(FBN2):c.1724-6T>C rs1259657269 0.00001
NM_001999.4(FBN2):c.1724-7T>G rs1490528227 0.00001
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294 0.00001
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu) rs762427107 0.00001
NM_001999.4(FBN2):c.1776G>A (p.Val592=) rs775492838 0.00001
NM_001999.4(FBN2):c.1812C>T (p.Ala604=) rs745811885 0.00001
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553 0.00001
NM_001999.4(FBN2):c.1842C>T (p.Asn614=) rs968593645 0.00001
NM_001999.4(FBN2):c.1866A>G (p.Thr622=) rs1060504934 0.00001
NM_001999.4(FBN2):c.1884G>A (p.Leu628=) rs1237327921 0.00001
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214 0.00001
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys) rs138963610 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys) rs750406193 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.2043C>T (p.Arg681=) rs1476851135 0.00001
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys) rs747447916 0.00001
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436 0.00001
NM_001999.4(FBN2):c.2096-13del rs746826953 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.2160C>T (p.Pro720=) rs889188442 0.00001
NM_001999.4(FBN2):c.2202C>T (p.Asp734=) rs1057470455 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2259C>T (p.His753=) rs1751768248 0.00001
NM_001999.4(FBN2):c.2271T>C (p.Ser757=) rs1338036259 0.00001
NM_001999.4(FBN2):c.2283T>C (p.Gly761=) rs1235214641 0.00001
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly) rs1485036763 0.00001
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu) rs889066564 0.00001
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658 0.00001
NM_001999.4(FBN2):c.2428+9T>C rs368374358 0.00001
NM_001999.4(FBN2):c.2429-11G>A rs201849584 0.00001
NM_001999.4(FBN2):c.2487G>T (p.Thr829=) rs779455710 0.00001
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu) rs547769591 0.00001
NM_001999.4(FBN2):c.2511C>T (p.Cys837=) rs756813212 0.00001
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715 0.00001
NM_001999.4(FBN2):c.2554+18C>T rs778973357 0.00001
NM_001999.4(FBN2):c.2554+19G>A rs199897237 0.00001
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp) rs1751527556 0.00001
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006 0.00001
NM_001999.4(FBN2):c.258C>T (p.Pro86=) rs780509984 0.00001
NM_001999.4(FBN2):c.2661A>G (p.Gly887=) rs774598529 0.00001
NM_001999.4(FBN2):c.2675-8C>G rs1451128883 0.00001
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558 0.00001
NM_001999.4(FBN2):c.2715C>T (p.Ser905=) rs998086640 0.00001
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys) rs763094104 0.00001
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val) rs368766120 0.00001
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr) rs370312107 0.00001
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045 0.00001
NM_001999.4(FBN2):c.2813-12T>C rs1395669341 0.00001
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met) rs766590294 0.00001
NM_001999.4(FBN2):c.2863+3G>A rs762144935 0.00001
NM_001999.4(FBN2):c.2864-12A>G rs1234935460 0.00001
NM_001999.4(FBN2):c.2874G>A (p.Glu958=) rs765859878 0.00001
NM_001999.4(FBN2):c.294C>T (p.Cys98=) rs765214316 0.00001
NM_001999.4(FBN2):c.2989+18A>T rs769856454 0.00001
NM_001999.4(FBN2):c.2990-13G>A rs375326505 0.00001
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg) rs547410742 0.00001
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile) rs773235785 0.00001
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=) rs1255532545 0.00001
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys) rs773473369 0.00001
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp) rs199938409 0.00001
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346 0.00001
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr) rs139118782 0.00001
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538 0.00001
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr) rs765437414 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile) rs863223602 0.00001
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=) rs756541654 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143 0.00001
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817 0.00001
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr) rs1581226080 0.00001
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp) rs771385579 0.00001
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) rs375710546 0.00001
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503 0.00001
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646 0.00001
NM_001999.4(FBN2):c.3567C>T (p.His1189=) rs945523399 0.00001
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe) rs914081385 0.00001
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992 0.00001
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=) rs941219425 0.00001
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe) rs1389689622 0.00001
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=) rs764902856 0.00001
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met) rs558632824 0.00001
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=) rs141485941 0.00001
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=) rs750559514 0.00001
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg) rs1018550681 0.00001
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe) rs1263059454 0.00001
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser) rs755489065 0.00001
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471 0.00001
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe) rs763595235 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr) rs150872093 0.00001
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=) rs1394998823 0.00001
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile) rs1231103337 0.00001
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg) rs1039821634 0.00001
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316 0.00001
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val) rs768753485 0.00001
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=) rs775405425 0.00001
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu) rs149305476 0.00001
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp) rs750327890 0.00001
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144 0.00001
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn) rs367961012 0.00001
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=) rs761049150 0.00001
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=) rs147046215 0.00001
NM_001999.4(FBN2):c.42G>T (p.Leu14=) rs376407285 0.00001
NM_001999.4(FBN2):c.432A>G (p.Lys144=) rs201247200 0.00001
NM_001999.4(FBN2):c.4346-6G>T rs755217606 0.00001
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly) rs766483687 0.00001
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238 0.00001
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe) rs199668238 0.00001
NM_001999.4(FBN2):c.4406C>T (p.Pro1469Leu) rs770606176 0.00001
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=) rs1750619535 0.00001
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=) rs371629482 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=) rs751938197 0.00001
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489 0.00001
NM_001999.4(FBN2):c.4595-19T>C rs201459526 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys) rs1554121027 0.00001
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667 0.00001
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900 0.00001
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His) rs751661259 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237 0.00001
NM_001999.4(FBN2):c.4879+7A>G rs555328744 0.00001
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660 0.00001
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=) rs1488160637 0.00001
NM_001999.4(FBN2):c.4949-5T>C rs1264068007 0.00001
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn) rs1018411631 0.00001
NM_001999.4(FBN2):c.5074+5G>A rs374651068 0.00001
NM_001999.4(FBN2):c.5074+7T>C rs201951284 0.00001
NM_001999.4(FBN2):c.5075-4C>G rs779999668 0.00001
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile) rs572030603 0.00001
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu) rs1402545685 0.00001
NM_001999.4(FBN2):c.5201-3T>C rs1057521162 0.00001
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter) rs1178371653 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.522T>C (p.Tyr174=) rs573915338 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=) rs941916367 0.00001
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser) rs1033004512 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.533-4G>T rs372596001 0.00001
NM_001999.4(FBN2):c.5353+20A>G rs759401474 0.00001
NM_001999.4(FBN2):c.5354-14T>C rs756825167 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=) rs756365546 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu) rs863223610 0.00001
NM_001999.4(FBN2):c.5549-8T>A rs1339062362 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser) rs773732645 0.00001
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val) rs779567163 0.00001
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959 0.00001
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=) rs991908659 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp) rs1010422106 0.00001
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg) rs1581202795 0.00001
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=) rs768733086 0.00001
NM_001999.4(FBN2):c.573C>T (p.Ile191=) rs370698125 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly) rs1554119542 0.00001
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser) rs863223578 0.00001
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr) rs369652475 0.00001
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg) rs1314671452 0.00001
NM_001999.4(FBN2):c.5918-4A>G rs1382347293 0.00001
NM_001999.4(FBN2):c.5918-7C>G rs750463932 0.00001
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr) rs1060503501 0.00001
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648 0.00001
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp) rs1437992406 0.00001
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr) rs878854476 0.00001
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=) rs147474868 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp) rs547583705 0.00001
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293 0.00001
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys) rs368453513 0.00001
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611 0.00001
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu) rs1207752455 0.00001
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe) rs201321678 0.00001
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu) rs1295335940 0.00001
NM_001999.4(FBN2):c.6292+7T>C rs775471488 0.00001
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303 0.00001
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=) rs374717631 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.6445+10A>G rs774706397 0.00001
NM_001999.4(FBN2):c.6445+11T>C rs766726816 0.00001
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470 0.00001
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=) rs1199375914 0.00001
NM_001999.4(FBN2):c.6477T>C (p.His2159=) rs768972914 0.00001
NM_001999.4(FBN2):c.6511+7T>C rs1201683263 0.00001
NM_001999.4(FBN2):c.6512-14G>A rs765303543 0.00001
NM_001999.4(FBN2):c.6512-3T>C rs764271022 0.00001
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser) rs143054385 0.00001
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys) rs761101580 0.00001
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val) rs201541140 0.00001
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro) rs772480416 0.00001
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His) rs745396297 0.00001
NM_001999.4(FBN2):c.6637+18A>G rs777841785 0.00001
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser) rs863223582 0.00001
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu) rs747908706 0.00001
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=) rs754724355 0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.6758-14A>G rs757283004 0.00001
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=) rs753071532 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.681G>T (p.Gly227=) rs772923075 0.00001
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=) rs374853253 0.00001
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met) rs770011418 0.00001
NM_001999.4(FBN2):c.6881-8T>G rs1355994517 0.00001
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=) rs754211806 0.00001
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856 0.00001
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr) rs1208950525 0.00001
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613 0.00001
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942 0.00001
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile) rs780214155 0.00001
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928 0.00001
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=) rs753673393 0.00001
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr) rs760494751 0.00001
NM_001999.4(FBN2):c.7013-18T>C rs375140877 0.00001
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys) rs863223586 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys) rs762730300 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val) rs762058983 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=) rs776227906 0.00001
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019 0.00001
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=) rs1005611432 0.00001
NM_001999.4(FBN2):c.7317T>C (p.His2439=) rs1554117089 0.00001
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128 0.00001
NM_001999.4(FBN2):c.7345+3A>G rs776419198 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser) rs576501460 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7471+5C>T rs369559870 0.00001
NM_001999.4(FBN2):c.7472-14T>A rs772646837 0.00001
NM_001999.4(FBN2):c.7472-17A>G rs773888786 0.00001
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=) rs1765389228 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.7595-8A>G rs878854479 0.00001
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His) rs1451291857 0.00001
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg) rs375790581 0.00001
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu) rs1473525001 0.00001
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=) rs763586091 0.00001
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu) rs770193908 0.00001
NM_001999.4(FBN2):c.767C>T (p.Ala256Val) rs1345155944 0.00001
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys) rs377689621 0.00001
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=) rs942206547 0.00001
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe) rs146316163 0.00001
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=) rs777828326 0.00001
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala) rs774323549 0.00001
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128 0.00001
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542 0.00001
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp) rs746046058 0.00001
NM_001999.4(FBN2):c.7960+20A>G rs761551216 0.00001
NM_001999.4(FBN2):c.7960+5G>A rs863223590 0.00001
NM_001999.4(FBN2):c.7961-11C>T rs751924753 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr) rs1245151549 0.00001
NM_001999.4(FBN2):c.798C>G (p.Ile266Met) rs1754660877 0.00001
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu) rs370250073 0.00001
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu) rs776788539 0.00001
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser) rs145809527 0.00001
NM_001999.4(FBN2):c.8193-7C>G rs754837805 0.00001
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123 0.00001
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn) rs529742815 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234 0.00001
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=) rs368712261 0.00001
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr) rs745600341 0.00001
NM_001999.4(FBN2):c.8365-5T>C rs1237152538 0.00001
NM_001999.4(FBN2):c.8365-7C>A rs1185451078 0.00001
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val) rs776610785 0.00001
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met) rs565816741 0.00001
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser) rs772227931 0.00001
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882 0.00001
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg) rs772928933 0.00001
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=) rs573245869 0.00001
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser) rs779659640 0.00001
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro) rs771712321 0.00001
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp) rs757052151 0.00001
NM_001999.4(FBN2):c.885A>G (p.Thr295=) rs989219711 0.00001
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys) rs577855501 0.00001
NM_001999.4(FBN2):c.951A>G (p.Glu317=) rs1326391832 0.00001
NM_001999.4(FBN2):c.953-3T>A rs1020574940 0.00001
NM_001999.4(FBN2):c.953-9C>T rs1181205032 0.00001
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) rs767110056 0.00001
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys) rs1446754894 0.00001
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln) rs772931812 0.00001
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) rs776484311 0.00001
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=) rs1941501832 0.00001
NM_002334.4(LRP4):c.1251A>G (p.Gln417=) rs753671990 0.00001
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly) rs1032020389 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1344C>T (p.Ile448=) rs748651620 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln) rs201502598 0.00001
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys) rs760105990 0.00001
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg) rs748357296 0.00001
NM_002334.4(LRP4):c.1599G>A (p.Ser533=) rs745607132 0.00001
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp) rs371763360 0.00001
NM_002334.4(LRP4):c.1696G>A (p.Gly566Ser) rs1941453950 0.00001
NM_002334.4(LRP4):c.1761T>C (p.Ser587=) rs1191198188 0.00001
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn) rs779387728 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.1829G>A (p.Arg610His) rs17848218 0.00001
NM_002334.4(LRP4):c.1831C>T (p.Arg611Cys) rs771793515 0.00001
NM_002334.4(LRP4):c.186T>C (p.Asp62=) rs1941691871 0.00001
NM_002334.4(LRP4):c.1915+10T>C rs566481615 0.00001
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) rs752512047 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2118C>T (p.Asn706=) rs762032159 0.00001
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met) rs777222715 0.00001
NM_002334.4(LRP4):c.21G>A (p.Ala7=) rs967769665 0.00001
NM_002334.4(LRP4):c.2216-13G>A rs376073181 0.00001
NM_002334.4(LRP4):c.2216-3C>T rs555994387 0.00001
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) rs545112106 0.00001
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys) rs376444422 0.00001
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) rs886048354 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2424+12C>T rs765593279 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr) rs754708237 0.00001
NM_002334.4(LRP4):c.2593G>A (p.Val865Met) rs765202931 0.00001
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00001
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) rs147259655 0.00001
NM_002334.4(LRP4):c.2835C>T (p.Leu945=) rs201362411 0.00001
NM_002334.4(LRP4):c.2859C>T (p.Leu953=) rs1368908778 0.00001
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp) rs368011278 0.00001
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp) rs757565682 0.00001
NM_002334.4(LRP4):c.3005-17C>T rs778370608 0.00001
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) rs201695857 0.00001
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=) rs537403005 0.00001
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=) rs1000744964 0.00001
NM_002334.4(LRP4):c.3137-8C>T rs1941047135 0.00001
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00001
NM_002334.4(LRP4):c.317-11T>C rs776234303 0.00001
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu) rs556889686 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp) rs775191643 0.00001
NM_002334.4(LRP4):c.3277+11C>T rs761158182 0.00001
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn) rs770071302 0.00001
NM_002334.4(LRP4):c.3365-7C>T rs1565783851 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00001
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln) rs150306458 0.00001
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=) rs767837337 0.00001
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu) rs1189743163 0.00001
NM_002334.4(LRP4):c.3580C>T (p.Arg1194Trp) rs746573834 0.00001
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg) rs745459741 0.00001
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr) rs752888601 0.00001
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=) rs755263623 0.00001
NM_002334.4(LRP4):c.3699+10G>A rs770541308 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.3731A>G (p.Asn1244Ser) rs376299085 0.00001
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=) rs200028319 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) rs371205300 0.00001
NM_002334.4(LRP4):c.3865G>A (p.Val1289Met) rs756641717 0.00001
NM_002334.4(LRP4):c.390T>C (p.Asp130=) rs140186161 0.00001
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) rs771126504 0.00001
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=) rs1424152195 0.00001
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr) rs1940969409 0.00001
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=) rs771308040 0.00001
NM_002334.4(LRP4):c.4109A>G (p.Asp1370Gly) rs1565782159 0.00001
NM_002334.4(LRP4):c.4134T>A (p.His1378Gln) rs763442262 0.00001
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) rs768733310 0.00001
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=) rs1246562304 0.00001
NM_002334.4(LRP4):c.417C>T (p.Ser139=) rs760201117 0.00001
NM_002334.4(LRP4):c.4222G>A (p.Val1408Ile) rs777975583 0.00001
NM_002334.4(LRP4):c.4250G>A (p.Ser1417Asn) rs758719937 0.00001
NM_002334.4(LRP4):c.4270G>A (p.Gly1424Arg) rs1026948492 0.00001
NM_002334.4(LRP4):c.429T>C (p.Cys143=) rs1486932718 0.00001
NM_002334.4(LRP4):c.430+7G>A rs1261702662 0.00001
NM_002334.4(LRP4):c.4369C>G (p.Leu1457Val) rs571418643 0.00001
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe) rs61738061 0.00001
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His) rs777932389 0.00001
NM_002334.4(LRP4):c.441G>A (p.Lys147=) rs986524567 0.00001
NM_002334.4(LRP4):c.4432G>C (p.Val1478Leu) rs764880010 0.00001
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe) rs1239578585 0.00001
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) rs764079526 0.00001
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=) rs766956711 0.00001
NM_002334.4(LRP4):c.4525C>T (p.Leu1509Phe) rs1940914910 0.00001
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala) rs758635404 0.00001
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys) rs756059712 0.00001
NM_002334.4(LRP4):c.461G>A (p.Arg154His) rs748199837 0.00001
NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser) rs142352845 0.00001
NM_002334.4(LRP4):c.4741C>T (p.Arg1581Cys) rs771144609 0.00001
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln) rs746746234 0.00001
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln) rs756543033 0.00001
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=) rs143849188 0.00001
NM_002334.4(LRP4):c.4943G>C (p.Cys1648Ser) rs769497270 0.00001
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr) rs768284053 0.00001
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=) rs762976165 0.00001
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys) rs528376810 0.00001
NM_002334.4(LRP4):c.5088-19A>C rs1338147762 0.00001
NM_002334.4(LRP4):c.5088-5C>T rs994961184 0.00001
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn) rs1241649761 0.00001
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=) rs777935842 0.00001
NM_002334.4(LRP4):c.5156-15C>A rs1204328295 0.00001
NM_002334.4(LRP4):c.52+13C>T rs1434991490 0.00001
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr) rs776705313 0.00001
NM_002334.4(LRP4):c.5247C>T (p.His1749=) rs138596351 0.00001
NM_002334.4(LRP4):c.531C>T (p.Ser177=) rs751226124 0.00001
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His) rs1208850907 0.00001
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=) rs376540994 0.00001
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp) rs1208569811 0.00001
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=) rs772706817 0.00001
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile) rs779299308 0.00001
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser) rs765567296 0.00001
NM_002334.4(LRP4):c.548-18C>A rs779705585 0.00001
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=) rs767372541 0.00001
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met) rs368840169 0.00001
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=) rs762431184 0.00001
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr) rs1312872252 0.00001
NM_002334.4(LRP4):c.563C>T (p.Ala188Val) rs772245536 0.00001
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile) rs777229906 0.00001
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala) rs773770584 0.00001
NM_002334.4(LRP4):c.724C>T (p.Leu242=) rs1037889784 0.00001
NM_002334.4(LRP4):c.746G>A (p.Arg249His) rs780066978 0.00001
NM_002334.4(LRP4):c.750C>T (p.Cys250=) rs758493823 0.00001
NM_002334.4(LRP4):c.759C>T (p.Asp253=) rs368640705 0.00001
NM_002334.4(LRP4):c.806T>C (p.Met269Thr) rs776417067 0.00001
NM_002334.4(LRP4):c.812C>T (p.Thr271Met) rs768904639 0.00001
NM_002334.4(LRP4):c.851G>A (p.Arg284His) rs369307795 0.00001
NM_002334.4(LRP4):c.894C>T (p.Asn298=) rs1592542950 0.00001
NM_002334.4(LRP4):c.922+12C>T rs1297911489 0.00001
NM_002334.4(LRP4):c.922+19C>G rs749318305 0.00001
NM_002334.4(LRP4):c.923-19T>C rs528895748 0.00001
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys) rs1257559745 0.00001
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr) rs753709386 0.00001
NM_002968.3(SALL1):c.1014T>G (p.Ser338=) rs960886445 0.00001
NM_002968.3(SALL1):c.1398C>A (p.Ile466=) rs758330038 0.00001
NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile) rs768794489 0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile) rs529479120 0.00001
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr) rs199626036 0.00001
NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser) rs764408117 0.00001
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) rs1238657472 0.00001
NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp) rs1352323090 0.00001
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_003289.4(TPM2):c.114+9C>T rs537297747 0.00001
NM_003289.4(TPM2):c.192G>A (p.Val64=) rs1382163428 0.00001
NM_003289.4(TPM2):c.230A>G (p.Lys77Arg) rs1486146333 0.00001
NM_003289.4(TPM2):c.248C>T (p.Ala83Val) rs770922057 0.00001
NM_003289.4(TPM2):c.295C>T (p.Leu99=) rs904588318 0.00001
NM_003289.4(TPM2):c.436A>G (p.Met146Val) rs764320619 0.00001
NM_003289.4(TPM2):c.462C>T (p.Ile154=) rs1294721413 0.00001
NM_003289.4(TPM2):c.492+9C>T rs1037460279 0.00001
NM_003289.4(TPM2):c.493-10C>T rs770755856 0.00001
NM_003289.4(TPM2):c.537G>A (p.Ser179=) rs758819415 0.00001
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.563+13G>C rs200644786 0.00001
NM_003289.4(TPM2):c.563+18T>A rs370352040 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003289.4(TPM2):c.588G>A (p.Glu196=) rs777013950 0.00001
NM_003289.4(TPM2):c.640-15G>A rs374069635 0.00001
NM_003289.4(TPM2):c.640-18dup rs746703203 0.00001
NM_003289.4(TPM2):c.640-19G>A rs1455692788 0.00001
NM_003289.4(TPM2):c.645C>T (p.Ser215=) rs1231488023 0.00001
NM_003289.4(TPM2):c.679C>G (p.Leu227Val) rs779397499 0.00001
NM_003289.4(TPM2):c.70C>T (p.Gln24Ter) rs201987709 0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=) rs201215303 0.00001
NM_003334.4(UBA1):c.1014G>C (p.Gln338His) rs1157237217 0.00001
NM_003334.4(UBA1):c.1047C>T (p.Pro349=) rs782664927 0.00001
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe) rs1341394275 0.00001
NM_003334.4(UBA1):c.117+16G>A rs375750779 0.00001
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val) rs1556788826 0.00001
NM_003334.4(UBA1):c.1339-9A>G rs782104383 0.00001
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys) rs570568650 0.00001
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=) rs1488418187 0.00001
NM_003334.4(UBA1):c.1401C>G (p.Gly467=) rs782569910 0.00001
NM_003334.4(UBA1):c.147C>T (p.Asp49=) rs1556786556 0.00001
NM_003334.4(UBA1):c.1576-20G>A rs377335190 0.00001
NM_003334.4(UBA1):c.1629C>G (p.Ile543Met) rs1556790800 0.00001
NM_003334.4(UBA1):c.1710C>T (p.Gly570=) rs1556790843 0.00001
NM_003334.4(UBA1):c.1758C>T (p.Arg586=) rs782655127 0.00001
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln) rs1318594436 0.00001
NM_003334.4(UBA1):c.1929C>T (p.His643=) rs782419696 0.00001
NM_003334.4(UBA1):c.2053T>C (p.Leu685=) rs781839671 0.00001
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln) rs782425809 0.00001
NM_003334.4(UBA1):c.2115C>T (p.Asp705=) rs1481710267 0.00001
NM_003334.4(UBA1):c.2118C>T (p.Cys706=) rs782597501 0.00001
NM_003334.4(UBA1):c.2136C>T (p.His712=) rs781845476 0.00001
NM_003334.4(UBA1):c.2187C>T (p.Phe729=) rs1480401128 0.00001
NM_003334.4(UBA1):c.2202C>A (p.Leu734=) rs1556793129 0.00001
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser) rs1556793160 0.00001
NM_003334.4(UBA1):c.231A>G (p.Val77=) rs1556786690 0.00001
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg) rs868922840 0.00001
NM_003334.4(UBA1):c.2371C>T (p.Leu791=) rs1556793265 0.00001
NM_003334.4(UBA1):c.2412C>T (p.Gly804=) rs201456998 0.00001
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln) rs782097752 0.00001
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser) rs781800261 0.00001
NM_003334.4(UBA1):c.2474G>A (p.Arg825His) rs781852793 0.00001
NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn) rs782586380 0.00001
NM_003334.4(UBA1):c.2554-6T>C rs370565575 0.00001
NM_003334.4(UBA1):c.2567A>G (p.Asn856Ser) rs374003677 0.00001
NM_003334.4(UBA1):c.2575A>G (p.Met859Val) rs782649232 0.00001
NM_003334.4(UBA1):c.2584A>G (p.Ile862Val) rs1351999233 0.00001
NM_003334.4(UBA1):c.2586C>T (p.Ile862=) rs150512668 0.00001
NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala) rs782749176 0.00001
NM_003334.4(UBA1):c.2640G>C (p.Arg880=) rs1262504002 0.00001
NM_003334.4(UBA1):c.2688G>A (p.Thr896=) rs781811327 0.00001
NM_003334.4(UBA1):c.2742G>C (p.Gln914His) rs1487402125 0.00001
NM_003334.4(UBA1):c.2754G>C (p.Gln918His) rs782576505 0.00001
NM_003334.4(UBA1):c.2763C>G (p.Ser921=) rs1317157419 0.00001
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr) rs1556794067 0.00001
NM_003334.4(UBA1):c.2831G>A (p.Arg944His) rs782687555 0.00001
NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys) rs781997101 0.00001
NM_003334.4(UBA1):c.2893C>G (p.Pro965Ala) rs1556794528 0.00001
NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys) rs782527493 0.00001
NM_003334.4(UBA1):c.2941-14C>T rs782755186 0.00001
NM_003334.4(UBA1):c.303A>G (p.Leu101=) rs782052238 0.00001
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=) rs782246207 0.00001
NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys) rs782810802 0.00001
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=) rs781808756 0.00001
NM_003334.4(UBA1):c.330T>G (p.Ala110=) rs781828321 0.00001
NM_003334.4(UBA1):c.34G>T (p.Val12Leu) rs982155788 0.00001
NM_003334.4(UBA1):c.360G>A (p.Glu120=) rs782436604 0.00001
NM_003334.4(UBA1):c.453C>T (p.Leu151=) rs782803598 0.00001
NM_003334.4(UBA1):c.465C>T (p.Phe155=) rs1556787010 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003334.4(UBA1):c.573G>A (p.Thr191=) rs1556787692 0.00001
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly) rs200692291 0.00001
NM_003334.4(UBA1):c.603C>T (p.Asp201=) rs782085880 0.00001
NM_003334.4(UBA1):c.663T>A (p.Val221=) rs782741702 0.00001
NM_003334.4(UBA1):c.734G>A (p.Gly245Glu) rs1409013948 0.00001
NM_003334.4(UBA1):c.97G>A (p.Val33Met) rs1449173671 0.00001
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052 0.00001
NM_004380.3(CREBBP):c.1331-12T>C rs779542354 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.2043C>T (p.Asn681=) rs555628489 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg) rs746552957 0.00001
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala) rs1186080322 0.00001
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) rs746902106 0.00001
NM_004380.3(CREBBP):c.2823C>T (p.Thr941=) rs762072105 0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu) rs766844540 0.00001
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) rs190925539 0.00001
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile) rs774047746 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=) rs775872294 0.00001
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=) rs745617177 0.00001
NM_004380.3(CREBBP):c.3837-18G>A rs780739661 0.00001
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser) rs558051943 0.00001
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=) rs777425519 0.00001
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) rs563033919 0.00001
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.501C>T (p.Ala167=) rs376613398 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 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.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly) rs794727274 0.00001
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=) rs768626011 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=) rs759497776 0.00001
NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=) rs762700575 0.00001
NM_004380.3(CREBBP):c.6282G>A (p.Pro2094=) rs772950054 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.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.651C>T (p.Gly217=) rs375403937 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 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_004380.3(CREBBP):c.7239C>T (p.Asn2413=) rs757539209 0.00001
NM_004380.3(CREBBP):c.825A>C (p.Pro275=) rs370509157 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004380.3(CREBBP):c.975+14G>A rs535745718 0.00001
NM_004629.2(FANCG):c.1005C>T (p.Ala335=) rs1243179658 0.00001
NM_004629.2(FANCG):c.1077-19A>T rs771086628 0.00001
NM_004629.2(FANCG):c.1077G>A (p.Arg359=) rs901079231 0.00001
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) rs376623996 0.00001
NM_004629.2(FANCG):c.1095G>A (p.Glu365=) rs1587140720 0.00001
NM_004629.2(FANCG):c.1128T>C (p.Asp376=) rs1428329520 0.00001
NM_004629.2(FANCG):c.1134G>A (p.Ser378=) rs530574134 0.00001
NM_004629.2(FANCG):c.1144-9C>T rs778217810 0.00001
NM_004629.2(FANCG):c.1162C>G (p.Pro388Ala) rs1356114266 0.00001
NM_004629.2(FANCG):c.1188G>A (p.Val396=) rs771715036 0.00001
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu) rs1060501868 0.00001
NM_004629.2(FANCG):c.1203G>A (p.Ala401=) rs770325434 0.00001
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser) rs371171892 0.00001
NM_004629.2(FANCG):c.1233A>G (p.Gln411=) rs371809395 0.00001
NM_004629.2(FANCG):c.124T>C (p.Leu42=) rs775053536 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.1287C>T (p.Pro429=) rs767253119 0.00001
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro) rs748738986 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004629.2(FANCG):c.1422T>C (p.Ser474=) rs144369518 0.00001
NM_004629.2(FANCG):c.1433+12G>A rs201070684 0.00001
NM_004629.2(FANCG):c.1433+8C>T rs772542885 0.00001
NM_004629.2(FANCG):c.1434-6C>T rs1404150675 0.00001
NM_004629.2(FANCG):c.1437C>T (p.Cys479=) rs904322133 0.00001
NM_004629.2(FANCG):c.1473A>G (p.Lys491=) rs769921972 0.00001
NM_004629.2(FANCG):c.1481-4C>A rs1829057884 0.00001
NM_004629.2(FANCG):c.1492A>C (p.Asn498His) rs748364103 0.00001
NM_004629.2(FANCG):c.1497T>C (p.Cys499=) rs1340517333 0.00001
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr) rs373151602 0.00001
NM_004629.2(FANCG):c.1563A>G (p.Gly521=) rs1240720328 0.00001
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln) rs761993636 0.00001
NM_004629.2(FANCG):c.156G>C (p.Gly52=) rs778234892 0.00001
NM_004629.2(FANCG):c.1575A>G (p.Val525=) rs1340065874 0.00001
NM_004629.2(FANCG):c.1578C>T (p.Ala526=) rs1060504371 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 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.1617C>T (p.Leu539=) rs1000355215 0.00001
NM_004629.2(FANCG):c.1626G>C (p.Gln542His) rs1060501867 0.00001
NM_004629.2(FANCG):c.1637-2del rs1224034435 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.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.175+7G>A rs1340619797 0.00001
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu) rs538555981 0.00001
NM_004629.2(FANCG):c.1806C>T (p.Pro602=) rs756632525 0.00001
NM_004629.2(FANCG):c.1814G>A (p.Arg605His) rs751710424 0.00001
NM_004629.2(FANCG):c.1815T>C (p.Arg605=) rs1455440698 0.00001
NM_004629.2(FANCG):c.1818C>T (p.Asp606=) rs766524415 0.00001
NM_004629.2(FANCG):c.282G>A (p.Gln94=) rs1373739426 0.00001
NM_004629.2(FANCG):c.308-11A>G rs371822998 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys) rs778894219 0.00001
NM_004629.2(FANCG):c.387C>T (p.Ser129=) rs1419629240 0.00001
NM_004629.2(FANCG):c.423C>A (p.Arg141=) rs1829121800 0.00001
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys) rs200926249 0.00001
NM_004629.2(FANCG):c.495C>G (p.Thr165=) rs1829120053 0.00001
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser) rs749946550 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_004629.2(FANCG):c.564T>C (p.Ala188=) rs1015283839 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.646+9G>A rs1829102198 0.00001
NM_004629.2(FANCG):c.647-15C>A rs764036260 0.00001
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) rs1209807088 0.00001
NM_004629.2(FANCG):c.654G>A (p.Gln218=) rs1260636663 0.00001
NM_004629.2(FANCG):c.678C>T (p.Asp226=) rs1187334238 0.00001
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr) rs765095688 0.00001
NM_004629.2(FANCG):c.6C>T (p.Ser2=) rs774139167 0.00001
NM_004629.2(FANCG):c.73C>G (p.Arg25Gly) rs752839554 0.00001
NM_004629.2(FANCG):c.747C>T (p.Tyr249=) rs1043957 0.00001
NM_004629.2(FANCG):c.774G>A (p.Lys258=) rs1159014432 0.00001
NM_004629.2(FANCG):c.777+8C>G rs367809061 0.00001
NM_004629.2(FANCG):c.778-20G>T rs749563301 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_004629.2(FANCG):c.84+9G>T rs759504806 0.00001
NM_004629.2(FANCG):c.840T>C (p.Gly280=) rs778142751 0.00001
NM_004629.2(FANCG):c.85-19C>T rs1028747262 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004629.2(FANCG):c.85-8T>C rs767607055 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.925-6T>C rs768761780 0.00001
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup) rs1199832786 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_004629.2(FANCG):c.999C>T (p.Asp333=) rs762238437 0.00001
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His) rs768445220 0.00001
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) rs757902272 0.00001
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp) rs529117281 0.00001
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=) rs764482974 0.00001
NM_005055.5(RAPSN):c.1044C>T (p.His348=) rs1014137280 0.00001
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs) rs1475015182 0.00001
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) rs768394140 0.00001
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) rs1231669536 0.00001
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=) rs150934532 0.00001
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys) rs756519962 0.00001
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=) rs150503333 0.00001
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=) rs1048200516 0.00001
NM_005055.5(RAPSN):c.111G>A (p.Ser37=) rs146825957 0.00001
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=) rs1368702539 0.00001
NM_005055.5(RAPSN):c.1166+18G>A rs536788411 0.00001
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=) rs1353799875 0.00001
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser) rs370123138 0.00001
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=) rs530896580 0.00001
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys) rs1165174416 0.00001
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=) rs2076326463 0.00001
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr) rs1486159580 0.00001
NM_005055.5(RAPSN):c.132C>T (p.Arg44=) rs772917848 0.00001
NM_005055.5(RAPSN):c.150C>A (p.Val50=) rs768214983 0.00001
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu) rs750772292 0.00001
NM_005055.5(RAPSN):c.192+12C>T rs774654232 0.00001
NM_005055.5(RAPSN):c.192+7G>T rs767745050 0.00001
NM_005055.5(RAPSN):c.195C>T (p.Phe65=) rs772563068 0.00001
NM_005055.5(RAPSN):c.210C>T (p.Ile70=) rs773975835 0.00001
NM_005055.5(RAPSN):c.219C>G (p.Ala73=) rs2076424955 0.00001
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp) rs778157857 0.00001
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln) rs568433059 0.00001
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys) rs11556408 0.00001
NM_005055.5(RAPSN):c.237C>T (p.Ala79=) rs888989685 0.00001
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn) rs781724566 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala) rs770016019 0.00001
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr) rs1341207988 0.00001
NM_005055.5(RAPSN):c.321G>A (p.Lys107=) rs781529364 0.00001
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe) rs1164228546 0.00001
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp) rs1047615316 0.00001
NM_005055.5(RAPSN):c.345C>A (p.Thr115=) rs1353205717 0.00001
NM_005055.5(RAPSN):c.408C>T (p.Leu136=) rs1466576877 0.00001
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe) rs1256816164 0.00001
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) rs104894300 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.429G>A (p.Leu143=) rs762052702 0.00001
NM_005055.5(RAPSN):c.438C>T (p.Phe146=) rs1459059463 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys) rs1326936118 0.00001
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys) rs148600999 0.00001
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr) rs780985479 0.00001
NM_005055.5(RAPSN):c.483C>T (p.Leu161=) rs754775068 0.00001
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) rs121909255 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.528C>G (p.Val176=) rs761149747 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.532-12T>C rs768129120 0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys) rs1452482859 0.00001
NM_005055.5(RAPSN):c.558C>T (p.Pro186=) rs773462623 0.00001
NM_005055.5(RAPSN):c.576T>C (p.Leu192=) rs745749798 0.00001
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile) rs747627949 0.00001
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp) rs756738642 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005055.5(RAPSN):c.645C>T (p.Ala215=) rs1338665465 0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.662G>A (p.Arg221His) rs1377574572 0.00001
NM_005055.5(RAPSN):c.690+14G>T rs752360126 0.00001
NM_005055.5(RAPSN):c.691-5C>T rs1291023159 0.00001
NM_005055.5(RAPSN):c.723C>T (p.Asp241=) rs769383562 0.00001
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro) rs780963721 0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584 0.00001
NM_005055.5(RAPSN):c.738G>A (p.Ala246=) rs889862832 0.00001
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn) rs750888238 0.00001
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp) rs753956536 0.00001
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn) rs762865029 0.00001
NM_005055.5(RAPSN):c.789+17G>A rs369690955 0.00001
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter) rs2076433607 0.00001
NM_005055.5(RAPSN):c.813C>T (p.Ser271=) rs760253392 0.00001
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu) rs199984356 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005055.5(RAPSN):c.90A>G (p.Thr30=) rs753896492 0.00001
NM_005055.5(RAPSN):c.912+11G>T rs780444573 0.00001
NM_005055.5(RAPSN):c.912+6G>A rs781362707 0.00001
NM_005055.5(RAPSN):c.912+8C>T rs375174267 0.00001
NM_005055.5(RAPSN):c.913-18C>T rs570429072 0.00001
NM_005055.5(RAPSN):c.927C>T (p.Ile309=) rs144813373 0.00001
NM_005055.5(RAPSN):c.957G>C (p.Val319=) rs794727796 0.00001
NM_005055.5(RAPSN):c.967-10C>T rs754320492 0.00001
NM_005055.5(RAPSN):c.987C>T (p.His329=) rs1340342787 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.1102+1G>T rs1314323456 0.00001
NM_005236.3(ERCC4):c.1102+7T>A rs766826151 0.00001
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) rs774643449 0.00001
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=) rs760060914 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.1214-4T>G rs2032257283 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.1251T>A (p.Cys417Ter) rs762738968 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.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.1347C>A (p.Val449=) rs1352012558 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.1554A>C (p.Ile518=) rs768020598 0.00001
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) rs779170299 0.00001
NM_005236.3(ERCC4):c.15G>A (p.Gln5=) rs748509102 0.00001
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=) rs1002156756 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 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.1899C>G (p.Leu633=) rs954215121 0.00001
NM_005236.3(ERCC4):c.1905-7C>G rs1459073174 0.00001
NM_005236.3(ERCC4):c.1971A>G (p.Val657=) rs993218238 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.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=) rs769731155 0.00001
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) rs777184889 0.00001
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541 0.00001
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=) rs1477890575 0.00001
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) rs535728795 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu) rs765712858 0.00001
NM_005236.3(ERCC4):c.2421T>C (p.His807=) rs1387272253 0.00001
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=) rs1295720869 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.2646C>T (p.Asp882=) rs538267970 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.541G>A (p.Val181Met) rs750673145 0.00001
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu) rs748499820 0.00001
NM_005236.3(ERCC4):c.718C>T (p.Leu240=) rs746904084 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.840G>A (p.Lys280=) rs886051659 0.00001
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193 0.00001
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) rs1340754747 0.00001
NM_005236.3(ERCC4):c.948G>A (p.Thr316=) rs770736492 0.00001
NM_005236.3(ERCC4):c.974-17T>C rs2032183635 0.00001
NM_005445.4(SMC3):c.1671-4T>C rs201392611 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005445.4(SMC3):c.2352T>C (p.Asp784=) rs768545555 0.00001
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser) rs777828072 0.00001
NM_005445.4(SMC3):c.3228G>A (p.Glu1076=) rs768560730 0.00001
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=) rs189703529 0.00001
NM_005445.4(SMC3):c.3363C>T (p.Ser1121=) rs1332828083 0.00001
NM_005445.4(SMC3):c.372C>T (p.Leu124=) rs972620847 0.00001
NM_005445.4(SMC3):c.621G>A (p.Lys207=) rs1412736656 0.00001
NM_005445.4(SMC3):c.959G>C (p.Ser320Thr) rs755859881 0.00001
NM_005592.4(MUSK):c.1063G>A (p.Ala355Thr) rs758777519 0.00001
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser) rs768323977 0.00001
NM_005592.4(MUSK):c.1119G>T (p.Leu373Phe) rs747717789 0.00001
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu) rs770907001 0.00001
NM_005592.4(MUSK):c.1273G>A (p.Glu425Lys) rs745722798 0.00001
NM_005592.4(MUSK):c.1279C>G (p.His427Asp) rs751266636 0.00001
NM_005592.4(MUSK):c.1291G>A (p.Val431Met) rs372013406 0.00001
NM_005592.4(MUSK):c.1329C>T (p.Asp443=) rs1174184253 0.00001
NM_005592.4(MUSK):c.133G>C (p.Ala45Pro) rs763800237 0.00001
NM_005592.4(MUSK):c.1360+6dup rs1329670157 0.00001
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn) rs202239254 0.00001
NM_005592.4(MUSK):c.138T>C (p.Thr46=) rs776479773 0.00001
NM_005592.4(MUSK):c.1419G>A (p.Val473=) rs750052542 0.00001
NM_005592.4(MUSK):c.1446C>T (p.Ser482=) rs754903785 0.00001
NM_005592.4(MUSK):c.1465T>C (p.Ser489Pro) rs1161905783 0.00001
NM_005592.4(MUSK):c.1512T>C (p.Phe504=) rs374722867 0.00001
NM_005592.4(MUSK):c.1541C>T (p.Thr514Ile) rs1467052958 0.00001
NM_005592.4(MUSK):c.1556G>A (p.Arg519Gln) rs773818596 0.00001
NM_005592.4(MUSK):c.1650C>T (p.Pro550=) rs2077842363 0.00001
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg) rs202126269 0.00001
NM_005592.4(MUSK):c.1754C>T (p.Ala585Val) rs953823198 0.00001
NM_005592.4(MUSK):c.1755G>A (p.Ala585=) rs377355441 0.00001
NM_005592.4(MUSK):c.1767G>C (p.Val589=) rs546916589 0.00001
NM_005592.4(MUSK):c.1778+17A>G rs769781832 0.00001
NM_005592.4(MUSK):c.1778+20A>G rs773113428 0.00001
NM_005592.4(MUSK):c.1813A>G (p.Met605Val) rs758777089 0.00001
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val) rs769807910 0.00001
NM_005592.4(MUSK):c.1915G>A (p.Val639Met) rs766810675 0.00001
NM_005592.4(MUSK):c.1925T>C (p.Leu642Ser) rs751851038 0.00001
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His) rs760452360 0.00001
NM_005592.4(MUSK):c.2002C>T (p.Arg668Cys) rs754730206 0.00001
NM_005592.4(MUSK):c.206+5G>A rs767539226 0.00001
NM_005592.4(MUSK):c.2065G>T (p.Val689Phe) rs1464125081 0.00001
NM_005592.4(MUSK):c.2085A>C (p.Pro695=) rs772759899 0.00001
NM_005592.4(MUSK):c.2140G>C (p.Ala714Pro) rs1377981904 0.00001
NM_005592.4(MUSK):c.2156G>A (p.Arg719His) rs545173798 0.00001
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala) rs1238400476 0.00001
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter) rs1255531873 0.00001
NM_005592.4(MUSK):c.220C>T (p.Arg74Trp) rs1370203787 0.00001
NM_005592.4(MUSK):c.221G>A (p.Arg74Gln) rs758118087 0.00001
NM_005592.4(MUSK):c.2222T>C (p.Ile741Thr) rs752514384 0.00001
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys) rs750833487 0.00001
NM_005592.4(MUSK):c.2333G>A (p.Arg778His) rs751712655 0.00001
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln) rs776815006 0.00001
NM_005592.4(MUSK):c.2346G>T (p.Glu782Asp) rs34614566 0.00001
NM_005592.4(MUSK):c.2397C>T (p.Gly799=) rs775509048 0.00001
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys) rs376837791 0.00001
NM_005592.4(MUSK):c.242G>C (p.Gly81Ala) rs1644805907 0.00001
NM_005592.4(MUSK):c.2430G>C (p.Glu810Asp) rs1455145377 0.00001
NM_005592.4(MUSK):c.2433C>T (p.Val811=) rs761652640 0.00001
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter) rs1487680236 0.00001
NM_005592.4(MUSK):c.2507G>A (p.Arg836His) rs371689428 0.00001
NM_005592.4(MUSK):c.2579G>T (p.Cys860Phe) rs748071334 0.00001
NM_005592.4(MUSK):c.2581G>A (p.Glu861Lys) rs1588054854 0.00001
NM_005592.4(MUSK):c.2600T>C (p.Val867Ala) rs779710805 0.00001
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln) rs201134491 0.00001
NM_005592.4(MUSK):c.296G>T (p.Cys99Phe) rs760781844 0.00001
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795 0.00001
NM_005592.4(MUSK):c.315G>A (p.Val105=) rs751133130 0.00001
NM_005592.4(MUSK):c.359-2dup rs1185775471 0.00001
NM_005592.4(MUSK):c.430A>G (p.Thr144Ala) rs1210600769 0.00001
NM_005592.4(MUSK):c.43C>A (p.Leu15Met) rs746254848 0.00001
NM_005592.4(MUSK):c.441T>A (p.Asn147Lys) rs1476034971 0.00001
NM_005592.4(MUSK):c.467A>T (p.Lys156Met) rs1048310820 0.00001
NM_005592.4(MUSK):c.486+6T>G rs763532251 0.00001
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter) rs763656507 0.00001
NM_005592.4(MUSK):c.538G>A (p.Val180Ile) rs1468498564 0.00001
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala) rs373304727 0.00001
NM_005592.4(MUSK):c.57C>T (p.Ser19=) rs750615817 0.00001
NM_005592.4(MUSK):c.58G>A (p.Gly20Arg) rs758427621 0.00001
NM_005592.4(MUSK):c.593C>T (p.Thr198Ile) rs561525761 0.00001
NM_005592.4(MUSK):c.635C>T (p.Ala212Val) rs756953369 0.00001
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg) rs376911820 0.00001
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile) rs1170201682 0.00001
NM_005592.4(MUSK):c.745G>A (p.Gly249Arg) rs1372004765 0.00001
NM_005592.4(MUSK):c.788A>C (p.Asp263Ala) rs1187474550 0.00001
NM_005592.4(MUSK):c.791G>A (p.Arg264Gln) rs193019632 0.00001
NM_005592.4(MUSK):c.872A>G (p.Lys291Arg) rs752641780 0.00001
NM_005592.4(MUSK):c.875T>G (p.Phe292Cys) rs1416891382 0.00001
NM_005592.4(MUSK):c.951C>T (p.Cys317=) rs1311522447 0.00001
NM_006147.4(IRF6):c.921C>T (p.Ser307=) rs750815592 0.00001
NM_006265.3(RAD21):c.1065G>A (p.Pro355=) rs202233096 0.00001
NM_006265.3(RAD21):c.1068C>T (p.Pro356=) rs1348606480 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.1848G>A (p.Pro616=) rs761965871 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.102T>C (p.Asn34=) rs782100278 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.1410T>C (p.Ile470=) rs782223677 0.00001
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=) rs781957759 0.00001
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=) rs781835493 0.00001
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=) rs782379340 0.00001
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=) rs1458553359 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.2039G>A (p.Arg680His) rs1556889522 0.00001
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=) rs1388761806 0.00001
NM_006306.4(SMC1A):c.2313+14G>T rs1556889255 0.00001
NM_006306.4(SMC1A):c.2421-15C>A rs1002384123 0.00001
NM_006306.4(SMC1A):c.2421-4A>G rs782673405 0.00001
NM_006306.4(SMC1A):c.2505A>G (p.Val835=) rs782491758 0.00001
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln) rs904926146 0.00001
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=) rs886362301 0.00001
NM_006306.4(SMC1A):c.2709-10C>A rs2083250975 0.00001
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=) rs781912370 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.2950G>A (p.Gly984Ser) rs782381563 0.00001
NM_006306.4(SMC1A):c.2956C>T (p.Leu986=) rs1556887757 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006306.4(SMC1A):c.3285+4G>A rs1459975526 0.00001
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985 0.00001
NM_006306.4(SMC1A):c.3286-7C>T rs782657390 0.00001
NM_006306.4(SMC1A):c.3437+10A>T rs782079503 0.00001
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile) rs782084021 0.00001
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=) rs781977704 0.00001
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=) rs138015913 0.00001
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe) rs781998306 0.00001
NM_006306.4(SMC1A):c.3619-14C>T rs782732704 0.00001
NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=) rs1313105752 0.00001
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) rs782063495 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.402C>T (p.Leu134=) rs1211706449 0.00001
NM_006306.4(SMC1A):c.411+6C>T rs782515915 0.00001
NM_006306.4(SMC1A):c.42G>C (p.Ser14=) rs1463770411 0.00001
NM_006306.4(SMC1A):c.480T>A (p.Arg160=) rs782369322 0.00001
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val) rs1556890833 0.00001
NM_006306.4(SMC1A):c.495G>A (p.Ala165=) rs782260918 0.00001
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) rs1556890821 0.00001
NM_006306.4(SMC1A):c.63C>T (p.Ile21=) rs781999328 0.00001
NM_006306.4(SMC1A):c.675C>T (p.Leu225=) rs782182228 0.00001
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006306.4(SMC1A):c.753G>A (p.Lys251=) rs782297601 0.00001
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys) rs782209409 0.00001
NM_006306.4(SMC1A):c.816A>G (p.Lys272=) rs782455775 0.00001
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp) rs781812690 0.00001
NM_006306.4(SMC1A):c.855-13C>T rs1556890636 0.00001
NM_006306.4(SMC1A):c.986G>A (p.Arg329His) rs782449052 0.00001
NM_012243.3(SLC35A3):c.107G>A (p.Arg36His) rs747574982 0.00001
NM_012243.3(SLC35A3):c.187+5G>A rs1327580386 0.00001
NM_012243.3(SLC35A3):c.188-10T>C rs1184385628 0.00001
NM_012243.3(SLC35A3):c.198A>G (p.Leu66=) rs779900260 0.00001
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter) rs778502240 0.00001
NM_012243.3(SLC35A3):c.21C>T (p.Tyr7=) rs775151826 0.00001
NM_012243.3(SLC35A3):c.252A>C (p.Thr84=) rs760512680 0.00001
NM_012243.3(SLC35A3):c.329C>G (p.Ala110Gly) rs1157464372 0.00001
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=) rs761280692 0.00001
NM_012243.3(SLC35A3):c.405A>C (p.Lys135Asn) rs754559092 0.00001
NM_012243.3(SLC35A3):c.406T>C (p.Leu136=) rs1226291849 0.00001
NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile) rs1392040093 0.00001
NM_012243.3(SLC35A3):c.439T>C (p.Leu147=) rs1055726 0.00001
NM_012243.3(SLC35A3):c.44T>C (p.Phe15Ser) rs951750313 0.00001
NM_012243.3(SLC35A3):c.452T>A (p.Val151Asp) rs1415934934 0.00001
NM_012243.3(SLC35A3):c.465+7A>C rs1460106177 0.00001
NM_012243.3(SLC35A3):c.466-5T>C rs767037243 0.00001
NM_012243.3(SLC35A3):c.528C>T (p.Leu176=) rs1176598016 0.00001
NM_012243.3(SLC35A3):c.540C>T (p.Leu180=) rs1031141712 0.00001
NM_012243.3(SLC35A3):c.546A>G (p.Ala182=) rs745812553 0.00001
NM_012243.3(SLC35A3):c.585A>G (p.Lys195=) rs747139028 0.00001
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=) rs370227291 0.00001
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=) rs745545998 0.00001
NM_012243.3(SLC35A3):c.780T>C (p.Ala260=) rs1287725180 0.00001
NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter) rs1660258358 0.00001
NM_012243.3(SLC35A3):c.927T>G (p.Thr309=) rs753983040 0.00001
NM_012243.3(SLC35A3):c.942T>C (p.Tyr314=) rs1462890927 0.00001
NM_012243.3(SLC35A3):c.957A>G (p.Ala319=) rs139278027 0.00001
NM_012243.3(SLC35A3):c.975A>G (p.Ala325=) rs1425121794 0.00001
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser) rs775032838 0.00001
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) rs767730463 0.00001
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys) rs746187739 0.00001
NM_013352.4(DSE):c.1278A>G (p.Ala426=) rs1253141581 0.00001
NM_013352.4(DSE):c.1437C>T (p.Phe479=) rs757356537 0.00001
NM_013352.4(DSE):c.1491C>T (p.Pro497=) rs768130032 0.00001
NM_013352.4(DSE):c.1512A>G (p.Glu504=) rs200018749 0.00001
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe) rs1213902929 0.00001
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu) rs762084403 0.00001
NM_013352.4(DSE):c.17G>A (p.Arg6Gln) rs758271302 0.00001
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp) rs763787753 0.00001
NM_013352.4(DSE):c.2054T>C (p.Val685Ala) rs749911499 0.00001
NM_013352.4(DSE):c.2147G>A (p.Arg716His) rs549153887 0.00001
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn) rs779169990 0.00001
NM_013352.4(DSE):c.2221A>G (p.Ile741Val) rs780336360 0.00001
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys) rs752624508 0.00001
NM_013352.4(DSE):c.2334G>T (p.Leu778=) rs534248134 0.00001
NM_013352.4(DSE):c.2386A>G (p.Ile796Val) rs774012350 0.00001
NM_013352.4(DSE):c.243C>T (p.Ser81=) rs780478969 0.00001
NM_013352.4(DSE):c.2580A>G (p.Leu860=) rs1361177296 0.00001
NM_013352.4(DSE):c.2724C>T (p.Asn908=) rs750711471 0.00001
NM_013352.4(DSE):c.2766T>C (p.Tyr922=) rs148311424 0.00001
NM_013352.4(DSE):c.404C>T (p.Ala135Val) rs370430595 0.00001
NM_013352.4(DSE):c.416+13C>T rs765373035 0.00001
NM_013352.4(DSE):c.495G>T (p.Leu165Phe) rs1057524129 0.00001
NM_013352.4(DSE):c.670+12C>T rs190922886 0.00001
NM_013352.4(DSE):c.75C>T (p.Thr25=) rs752936676 0.00001
NM_013352.4(DSE):c.864G>A (p.Pro288=) rs780424278 0.00001
NM_013352.4(DSE):c.885A>C (p.Ala295=) rs1444681997 0.00001
NM_013352.4(DSE):c.911-15A>G rs1232495093 0.00001
NM_014918.5(CHSY1):c.1109G>A (p.Arg370Gln) rs769801559 0.00001
NM_014918.5(CHSY1):c.1224T>C (p.Ile408=) rs1463101536 0.00001
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) rs773396835 0.00001
NM_014918.5(CHSY1):c.1468G>T (p.Ala490Ser) rs756263767 0.00001
NM_014918.5(CHSY1):c.1494T>C (p.Asn498=) rs567994246 0.00001
NM_014918.5(CHSY1):c.1552C>G (p.Gln518Glu) rs1274574182 0.00001
NM_014918.5(CHSY1):c.51C>T (p.Val17=) rs1192394140 0.00001
NM_014918.5(CHSY1):c.645T>A (p.Gly215=) rs567957962 0.00001
NM_014918.5(CHSY1):c.793G>A (p.Val265Met) rs372381623 0.00001
NM_014918.5(CHSY1):c.816+10G>C rs1261634441 0.00001
NM_014918.5(CHSY1):c.965G>A (p.Arg322His) rs140855609 0.00001
NM_014918.5(CHSY1):c.966C>T (p.Arg322=) rs911382649 0.00001
NM_014918.5(CHSY1):c.989G>A (p.Arg330His) rs749508854 0.00001
NM_016277.5(RAB23):c.117G>A (p.Lys39=) rs771469793 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_016277.5(RAB23):c.155+6dup rs761067059 0.00001
NM_016277.5(RAB23):c.184T>C (p.Leu62=) rs779101760 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=) rs759497648 0.00001
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro) rs766250966 0.00001
NM_016277.5(RAB23):c.24C>T (p.Val8=) rs752991124 0.00001
NM_016277.5(RAB23):c.327C>T (p.Ala109=) rs370959474 0.00001
NM_016277.5(RAB23):c.333G>A (p.Val111=) rs749833240 0.00001
NM_016277.5(RAB23):c.351A>G (p.Val117=) rs751291871 0.00001
NM_016277.5(RAB23):c.398+10C>T rs897972213 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.399-6G>A rs778655052 0.00001
NM_016277.5(RAB23):c.426G>A (p.Arg142=) rs763680429 0.00001
NM_016277.5(RAB23):c.482-9T>G rs777259479 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.547C>T (p.Leu183=) rs1473586028 0.00001
NM_016277.5(RAB23):c.555T>C (p.His185=) rs765954442 0.00001
NM_016277.5(RAB23):c.574+10T>C rs754164616 0.00001
NM_016277.5(RAB23):c.574+8C>T rs779119268 0.00001
NM_016277.5(RAB23):c.582T>C (p.Phe194=) rs1332930442 0.00001
NM_016277.5(RAB23):c.603C>T (p.His201=) rs372315508 0.00001
NM_016277.5(RAB23):c.627C>T (p.Leu209=) rs1318546806 0.00001
NM_016277.5(RAB23):c.693T>C (p.Phe231=) rs1764796444 0.00001
NM_016277.5(RAB23):c.699C>T (p.Ser233=) rs755447089 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.1007T>C (p.Ile336Thr) rs753734433 0.00001
NM_017617.5(NOTCH1):c.1039G>A (p.Gly347Ser) rs746187371 0.00001
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419 0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1099+16C>T rs777024482 0.00001
NM_017617.5(NOTCH1):c.1099+8C>T rs555823368 0.00001
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772 0.00001
NM_017617.5(NOTCH1):c.1100-13G>A rs762047198 0.00001
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720 0.00001
NM_017617.5(NOTCH1):c.1135A>C (p.Asn379His) rs758017301 0.00001
NM_017617.5(NOTCH1):c.1161C>T (p.Cys387=) rs761176244 0.00001
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) rs774399901 0.00001
NM_017617.5(NOTCH1):c.1188C>G (p.Ala396=) rs779573597 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met) rs370746889 0.00001
NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=) rs747864683 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1236C>T (p.Asp412=) rs780769573 0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272 0.00001
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=) rs762533002 0.00001
NM_017617.5(NOTCH1):c.1275T>C (p.His425=) rs1443278185 0.00001
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610 0.00001
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=) rs372751855 0.00001
NM_017617.5(NOTCH1):c.1296G>T (p.Thr432=) rs747450858 0.00001
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) rs1060502238 0.00001
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=) rs564566136 0.00001
NM_017617.5(NOTCH1):c.1356C>T (p.Asp452=) rs767527946 0.00001
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile) rs573153379 0.00001
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607 0.00001
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu) rs747502723 0.00001
NM_017617.5(NOTCH1):c.1392C>T (p.Asp464=) rs748499336 0.00001
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=) rs1405995623 0.00001
NM_017617.5(NOTCH1):c.1441+12G>A rs759506343 0.00001
NM_017617.5(NOTCH1):c.1442-7C>T rs1410661374 0.00001
NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=) rs754876256 0.00001
NM_017617.5(NOTCH1):c.1462G>A (p.Glu488Lys) rs753661188 0.00001
NM_017617.5(NOTCH1):c.1476C>T (p.Asp492=) rs749990260 0.00001
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=) rs763271019 0.00001
NM_017617.5(NOTCH1):c.1555+17C>A rs760877301 0.00001
NM_017617.5(NOTCH1):c.1555+9C>T rs764637985 0.00001
NM_017617.5(NOTCH1):c.1556-15C>T rs769589921 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890 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.1641C>G (p.Pro547=) rs759501071 0.00001
NM_017617.5(NOTCH1):c.1644C>T (p.Asn548=) rs776488663 0.00001
NM_017617.5(NOTCH1):c.1669+12C>T rs780649182 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.1670-7G>T rs1242028632 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1683G>A (p.Thr561=) rs766351093 0.00001
NM_017617.5(NOTCH1):c.1701C>T (p.Ile567=) rs773932034 0.00001
NM_017617.5(NOTCH1):c.1710C>T (p.Cys570=) rs762590262 0.00001
NM_017617.5(NOTCH1):c.1716C>T (p.Pro572=) rs746366255 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.1761C>T (p.Phe587=) rs1176092277 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.1788G>A (p.Thr596=) rs925293836 0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850 0.00001
NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His) rs369522885 0.00001
NM_017617.5(NOTCH1):c.1842C>T (p.His614=) rs375349485 0.00001
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg) rs764942073 0.00001
NM_017617.5(NOTCH1):c.1903+6C>T rs753388966 0.00001
NM_017617.5(NOTCH1):c.1904-4T>C rs552137707 0.00001
NM_017617.5(NOTCH1):c.1904-7C>T rs771097212 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.1929T>C (p.Asp643=) rs527323201 0.00001
NM_017617.5(NOTCH1):c.1951G>A (p.Asp651Asn) rs1182867386 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) rs752133245 0.00001
NM_017617.5(NOTCH1):c.1986C>T (p.Tyr662=) rs749156185 0.00001
NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys) rs548000491 0.00001
NM_017617.5(NOTCH1):c.2015-14C>T rs149013721 0.00001
NM_017617.5(NOTCH1):c.2015-8G>T rs1272176843 0.00001
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn) rs749761941 0.00001
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709 0.00001
NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=) rs751619078 0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) rs1385815860 0.00001
NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=) rs753710836 0.00001
NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=) rs777838108 0.00001
NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys) rs368494947 0.00001
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr) rs753106233 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn) rs950236535 0.00001
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala) rs200692749 0.00001
NM_017617.5(NOTCH1):c.213C>T (p.Ala71=) rs765437443 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.2207+5G>A rs1214619547 0.00001
NM_017617.5(NOTCH1):c.2207+9C>T rs751315476 0.00001
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser) rs761072761 0.00001
NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly) rs760700593 0.00001
NM_017617.5(NOTCH1):c.2311A>G (p.Met771Val) rs371117125 0.00001
NM_017617.5(NOTCH1):c.2339G>A (p.Arg780Gln) rs750859847 0.00001
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) rs767935604 0.00001
NM_017617.5(NOTCH1):c.2353+15C>T rs773271446 0.00001
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn) rs762729988 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2464A>G (p.Thr822Ala) rs1245057191 0.00001
NM_017617.5(NOTCH1):c.2468-4G>A rs752696927 0.00001
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met) rs754775789 0.00001
NM_017617.5(NOTCH1):c.2497T>A (p.Cys833Ser) rs775954717 0.00001
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877 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.2577G>A (p.Thr859=) rs747189377 0.00001
NM_017617.5(NOTCH1):c.2588-15C>T rs757061203 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.2611A>G (p.Asn871Asp) rs200235006 0.00001
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys) rs762050048 0.00001
NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu) rs371050668 0.00001
NM_017617.5(NOTCH1):c.2631G>A (p.Pro877=) rs777573424 0.00001
NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser) rs756555345 0.00001
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=) rs750777328 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2675G>A (p.Arg892His) rs199506721 0.00001
NM_017617.5(NOTCH1):c.2692G>A (p.Gly898Ser) rs748777783 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) rs369645726 0.00001
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn) rs757628476 0.00001
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln) rs773185855 0.00001
NM_017617.5(NOTCH1):c.2741-13C>T rs545249713 0.00001
NM_017617.5(NOTCH1):c.2741-9C>A rs758820499 0.00001
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.27C>G (p.Leu9=) rs1422526202 0.00001
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667 0.00001
NM_017617.5(NOTCH1):c.2820T>A (p.Thr940=) rs199912866 0.00001
NM_017617.5(NOTCH1):c.2823C>T (p.Phe941=) rs749408618 0.00001
NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg) rs773902766 0.00001
NM_017617.5(NOTCH1):c.2876A>C (p.Asn959Thr) rs1358942894 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met) rs769132985 0.00001
NM_017617.5(NOTCH1):c.2970-15C>G rs749173624 0.00001
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser) rs868369610 0.00001
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) rs991348745 0.00001
NM_017617.5(NOTCH1):c.3033C>T (p.Pro1011=) rs941714067 0.00001
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107 0.00001
NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser) rs1181594680 0.00001
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) rs760908627 0.00001
NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser) rs937138982 0.00001
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=) rs764208271 0.00001
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg) rs1397562033 0.00001
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser) rs981281975 0.00001
NM_017617.5(NOTCH1):c.3120C>T (p.Cys1040=) rs1189026962 0.00001
NM_017617.5(NOTCH1):c.3141C>T (p.Cys1047=) rs1221606038 0.00001
NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly) rs1212259128 0.00001
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr) rs1018501056 0.00001
NM_017617.5(NOTCH1):c.3172-7T>C rs370144650 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566 0.00001
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886 0.00001
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser) rs780582836 0.00001
NM_017617.5(NOTCH1):c.3231C>T (p.Thr1077=) rs781656729 0.00001
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys) rs1386494518 0.00001
NM_017617.5(NOTCH1):c.3261C>T (p.Ser1087=) rs543586029 0.00001
NM_017617.5(NOTCH1):c.3285C>T (p.Asp1095=) rs770364830 0.00001
NM_017617.5(NOTCH1):c.3326-5C>T rs765346348 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 0.00001
NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=) rs534486656 0.00001
NM_017617.5(NOTCH1):c.3387C>T (p.His1129=) rs1843117451 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3408C>G (p.Gly1136=) rs1171001832 0.00001
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=) rs377488165 0.00001
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys) rs1060502239 0.00001
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg) rs549630973 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.3495C>T (p.Gly1165=) rs778909557 0.00001
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser) rs754815022 0.00001
NM_017617.5(NOTCH1):c.3514G>A (p.Val1172Met) rs1234358553 0.00001
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=) rs768642611 0.00001
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg) rs754086177 0.00001
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649 0.00001
NM_017617.5(NOTCH1):c.355C>T (p.Leu119=) rs1458520239 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3570C>A (p.His1190Gln) rs769619561 0.00001
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) rs746547529 0.00001
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305 0.00001
NM_017617.5(NOTCH1):c.360C>T (p.Leu120=) rs541839947 0.00001
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) rs766644919 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812 0.00001
NM_017617.5(NOTCH1):c.3643+13G>C rs759356560 0.00001
NM_017617.5(NOTCH1):c.3643+9C>T rs764985096 0.00001
NM_017617.5(NOTCH1):c.3644-7C>G rs1243301340 0.00001
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg) rs984769025 0.00001
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525 0.00001
NM_017617.5(NOTCH1):c.3669C>T (p.Asp1223=) rs781546439 0.00001
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) rs753711100 0.00001
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile) rs766198119 0.00001
NM_017617.5(NOTCH1):c.3693C>T (p.Pro1231=) rs1330174392 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) rs749988739 0.00001
NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg) rs576434469 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 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.3829G>A (p.Asp1277Asn) rs550872754 0.00001
NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile) rs752264096 0.00001
NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser) rs1281437674 0.00001
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365 0.00001
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=) rs777242726 0.00001
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) rs750539322 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.3960C>T (p.Gly1320=) rs1843089049 0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) rs1249540119 0.00001
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=) rs775448292 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.4014+8C>G rs748956877 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.4057G>A (p.Gly1353Ser) rs761908188 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=) rs762830852 0.00001
NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=) rs745455844 0.00001
NM_017617.5(NOTCH1):c.4086A>G (p.Thr1362=) rs1394594896 0.00001
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=) rs769259782 0.00001
NM_017617.5(NOTCH1):c.4100C>T (p.Pro1367Leu) rs758787267 0.00001
NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His) rs779086531 0.00001
NM_017617.5(NOTCH1):c.4128C>T (p.Gly1376=) rs1292953898 0.00001
NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met) rs764123906 0.00001
NM_017617.5(NOTCH1):c.4158G>A (p.Pro1386=) rs760205847 0.00001
NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser) rs1210347209 0.00001
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=) rs989398598 0.00001
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) rs1348438354 0.00001
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521 0.00001
NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg) rs1255471066 0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677 0.00001
NM_017617.5(NOTCH1):c.4272G>A (p.Leu1424=) rs1352111936 0.00001
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=) rs757406877 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys) rs1198437870 0.00001
NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys) rs746144524 0.00001
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) rs777768691 0.00001
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) rs750183248 0.00001
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304 0.00001
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser) rs763685504 0.00001
NM_017617.5(NOTCH1):c.4425C>T (p.Asp1475=) rs371948072 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 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.447C>T (p.Cys149=) rs1042034779 0.00001
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) rs766362765 0.00001
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=) rs368733465 0.00001
NM_017617.5(NOTCH1):c.4564C>G (p.Gln1522Glu) rs537085062 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.4587-9C>T rs1390687627 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.4662C>T (p.Cys1554=) rs756662728 0.00001
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys) rs746342893 0.00001
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=) rs370713185 0.00001
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=) rs1392196185 0.00001
NM_017617.5(NOTCH1):c.4709C>T (p.Ala1570Val) rs199860726 0.00001
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774 0.00001
NM_017617.5(NOTCH1):c.4743G>A (p.Pro1581=) rs781672648 0.00001
NM_017617.5(NOTCH1):c.4776C>T (p.Phe1592=) rs752861485 0.00001
NM_017617.5(NOTCH1):c.4810G>A (p.Val1604Met) rs763765573 0.00001
NM_017617.5(NOTCH1):c.4830A>G (p.Ala1610=) rs1322054624 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.4900G>A (p.Ala1634Thr) rs757260114 0.00001
NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys) rs764006572 0.00001
NM_017617.5(NOTCH1):c.4919C>T (p.Ala1640Val) rs1183355532 0.00001
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790 0.00001
NM_017617.5(NOTCH1):c.4959C>G (p.Leu1653=) rs773609261 0.00001
NM_017617.5(NOTCH1):c.4984C>T (p.Arg1662Trp) rs1456612268 0.00001
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser) rs1439038323 0.00001
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala) rs975429231 0.00001
NM_017617.5(NOTCH1):c.5019-7C>T rs778742802 0.00001
NM_017617.5(NOTCH1):c.5049G>A (p.Arg1683=) rs749951491 0.00001
NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly) rs1394975333 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273 0.00001
NM_017617.5(NOTCH1):c.5168-15C>T rs1422578873 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371 0.00001
NM_017617.5(NOTCH1):c.5187C>T (p.Pro1729=) rs1391812990 0.00001
NM_017617.5(NOTCH1):c.5214C>T (p.Tyr1738=) rs757538884 0.00001
NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val) rs752754662 0.00001
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala) rs1843012616 0.00001
NM_017617.5(NOTCH1):c.5247C>T (p.Phe1749=) rs762483384 0.00001
NM_017617.5(NOTCH1):c.5271C>T (p.Ser1757=) rs747336695 0.00001
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) rs750318685 0.00001
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208 0.00001
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln) rs1188095516 0.00001
NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp) rs1843010487 0.00001
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) rs1198855127 0.00001
NM_017617.5(NOTCH1):c.5374G>A (p.Val1792Met) rs771399165 0.00001
NM_017617.5(NOTCH1):c.5384+11G>A rs1340470620 0.00001
NM_017617.5(NOTCH1):c.5384+6C>T rs747363366 0.00001
NM_017617.5(NOTCH1):c.5385-13C>T rs1045447812 0.00001
NM_017617.5(NOTCH1):c.5397C>T (p.Asn1799=) rs761147379 0.00001
NM_017617.5(NOTCH1):c.5406C>T (p.Asp1802=) rs768810954 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.541G>A (p.Glu181Lys) rs780209394 0.00001
NM_017617.5(NOTCH1):c.5460C>T (p.Thr1820=) rs1176961989 0.00001
NM_017617.5(NOTCH1):c.5472+10G>A rs1484527670 0.00001
NM_017617.5(NOTCH1):c.5472+13G>C rs774075034 0.00001
NM_017617.5(NOTCH1):c.5472+18C>T rs199812169 0.00001
NM_017617.5(NOTCH1):c.5472+8G>A rs776640246 0.00001
NM_017617.5(NOTCH1):c.5473-10C>T rs1226558286 0.00001
NM_017617.5(NOTCH1):c.5473-8C>G rs1353579181 0.00001
NM_017617.5(NOTCH1):c.5484C>T (p.Pro1828=) rs1381340038 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.5505C>T (p.Asp1835=) rs760776152 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=) rs535478432 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn) rs1313068805 0.00001
NM_017617.5(NOTCH1):c.5619C>T (p.Asp1873=) rs770755811 0.00001
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys) rs1446708596 0.00001
NM_017617.5(NOTCH1):c.5652G>A (p.Pro1884=) rs766279504 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=) rs1020718980 0.00001
NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile) rs751228412 0.00001
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn) rs375978224 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_017617.5(NOTCH1):c.5790C>T (p.Thr1930=) rs772372556 0.00001
NM_017617.5(NOTCH1):c.5793C>A (p.Ala1931=) rs569844183 0.00001
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val) rs374787627 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 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.5870A>C (p.Gln1957Pro) rs201174576 0.00001
NM_017617.5(NOTCH1):c.587A>G (p.His196Arg) rs1157720260 0.00001
NM_017617.5(NOTCH1):c.5945G>A (p.Arg1982Gln) rs763052700 0.00001
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys) rs759553984 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.5991G>A (p.Thr1997=) rs577642121 0.00001
NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=) rs557773323 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.6061G>A (p.Val2021Ile) rs759643831 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.6084C>G (p.Gly2028=) rs1060504524 0.00001
NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr) rs932710972 0.00001
NM_017617.5(NOTCH1):c.61+11A>G rs1400816809 0.00001
NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr) rs542300217 0.00001
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) rs749488166 0.00001
NM_017617.5(NOTCH1):c.6119A>G (p.Asn2040Ser) rs780257585 0.00001
NM_017617.5(NOTCH1):c.612C>T (p.Cys204=) rs1208829487 0.00001
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val) rs1085307562 0.00001
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile) rs979299004 0.00001
NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=) rs768912472 0.00001
NM_017617.5(NOTCH1):c.62-9C>T rs368106834 0.00001
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276 0.00001
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=) rs761295801 0.00001
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) rs549258808 0.00001
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242 0.00001
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995 0.00001
NM_017617.5(NOTCH1):c.6237G>A (p.Val2079=) rs1246059704 0.00001
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser) rs201058656 0.00001
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp) rs373806373 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val) rs749262096 0.00001
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His) rs759998676 0.00001
NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn) rs766745955 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.6350A>C (p.Asn2117Thr) rs765820020 0.00001
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725 0.00001
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp) rs1842933513 0.00001
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met) rs777501680 0.00001
NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile) rs1249825304 0.00001
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=) rs933773128 0.00001
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu) rs756571156 0.00001
NM_017617.5(NOTCH1):c.6414G>A (p.Pro2138=) rs750732295 0.00001
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=) rs368287903 0.00001
NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys) rs371742334 0.00001
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His) rs1060502233 0.00001
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp) rs757003332 0.00001
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr) rs1055326153 0.00001
NM_017617.5(NOTCH1):c.6536G>C (p.Arg2179Pro) rs587778571 0.00001
NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg) rs746372139 0.00001
NM_017617.5(NOTCH1):c.6564C>A (p.Gly2188=) rs747353119 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 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.6637G>A (p.Val2213Met) rs376241938 0.00001
NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=) rs745339419 0.00001
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu) rs751456570 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.6756G>A (p.Lys2252=) rs1842926814 0.00001
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) rs1204397173 0.00001
NM_017617.5(NOTCH1):c.6759C>T (p.Pro2253=) rs770738954 0.00001
NM_017617.5(NOTCH1):c.675G>A (p.Ser225=) rs1334701310 0.00001
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412 0.00001
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276 0.00001
NM_017617.5(NOTCH1):c.6787C>T (p.Arg2263Trp) rs770022692 0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) rs1367699274 0.00001
NM_017617.5(NOTCH1):c.678C>G (p.Pro226=) rs950648628 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.6871G>A (p.Gly2291Arg) rs367721906 0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359 0.00001
NM_017617.5(NOTCH1):c.6889A>G (p.Thr2297Ala) rs748988550 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=) rs201643432 0.00001
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro) rs869025260 0.00001
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val) rs749993527 0.00001
NM_017617.5(NOTCH1):c.6915T>C (p.Asn2305=) rs1223420495 0.00001
NM_017617.5(NOTCH1):c.6921A>G (p.Gln2307=) rs1361904973 0.00001
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp) rs374453977 0.00001
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser) rs747022065 0.00001
NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys) rs779811889 0.00001
NM_017617.5(NOTCH1):c.6969C>T (p.Tyr2323=) rs755844275 0.00001
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=) rs756811995 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 0.00001
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu) rs540165156 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) rs374362224 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7104G>A (p.Leu2368=) rs779525805 0.00001
NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp) rs754234580 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.7134C>T (p.His2378=) rs775424890 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137 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.7161A>T (p.Pro2387=) rs1413339098 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.7189C>T (p.Leu2397=) rs374789141 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.7315A>C (p.Ser2439Arg) rs942055234 0.00001
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile) rs1358523874 0.00001
NM_017617.5(NOTCH1):c.743-14C>T rs536768165 0.00001
NM_017617.5(NOTCH1):c.743-17G>A rs759467563 0.00001
NM_017617.5(NOTCH1):c.743-18C>T rs769949581 0.00001
NM_017617.5(NOTCH1):c.743-6C>T rs200395304 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.752G>A (p.Gly251Asp) rs749943647 0.00001
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=) rs758931699 0.00001
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147 0.00001
NM_017617.5(NOTCH1):c.7554C>T (p.Asp2518=) rs771410115 0.00001
NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=) rs778937268 0.00001
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=) rs371067732 0.00001
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg) rs764749582 0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) rs761156723 0.00001
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly) rs1186718194 0.00001
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=) rs190691338 0.00001
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) rs769784635 0.00001
NM_017617.5(NOTCH1):c.822C>T (p.Asp274=) rs775275739 0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00001
NM_017617.5(NOTCH1):c.865+19G>A rs775120395 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.866-7C>T rs368001435 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_017617.5(NOTCH1):c.94C>T (p.Leu32=) rs367858719 0.00001
NM_018062.4(FANCL):c.1033C>T (p.Leu345=) rs929280865 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.1092+18C>A rs373854636 0.00001
NM_018062.4(FANCL):c.1092+8A>G rs1337458150 0.00001
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_018062.4(FANCL):c.1093-34_1093-16del rs760337641 0.00001
NM_018062.4(FANCL):c.117G>A (p.Arg39=) rs774840155 0.00001
NM_018062.4(FANCL):c.121G>T (p.Val41Leu) rs763523035 0.00001
NM_018062.4(FANCL):c.129T>G (p.Pro43=) rs746046267 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.18G>C (p.Ala6=) rs759021953 0.00001
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys) rs200306031 0.00001
NM_018062.4(FANCL):c.1A>T (p.Met1Leu) rs772037896 0.00001
NM_018062.4(FANCL):c.216+1G>T rs1205006300 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.2T>C (p.Met1Thr) rs761291501 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.36C>T (p.Cys12=) rs756487177 0.00001
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu) rs1032497636 0.00001
NM_018062.4(FANCL):c.381G>T (p.Val127=) rs1198509820 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.39C>T (p.Pro13=) rs201708705 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro) rs1694519859 0.00001
NM_018062.4(FANCL):c.471+11C>T rs373493158 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.525C>T (p.Ala175=) rs757892335 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.565C>T (p.Gln189Ter) rs1191111879 0.00001
NM_018062.4(FANCL):c.588A>T (p.Ser196=) rs1205526780 0.00001
NM_018062.4(FANCL):c.589C>T (p.Leu197=) rs779745877 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.621C>T (p.Ile207=) rs374195602 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.692-17A>G rs1281803537 0.00001
NM_018062.4(FANCL):c.692-2A>G rs1558737575 0.00001
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp) rs1558737546 0.00001
NM_018062.4(FANCL):c.6G>A (p.Ala2=) rs781559042 0.00001
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe) rs1202806362 0.00001
NM_018062.4(FANCL):c.750G>A (p.Glu250=) rs1337676826 0.00001
NM_018062.4(FANCL):c.775+3A>T rs975755966 0.00001
NM_018062.4(FANCL):c.804C>T (p.Ser268=) rs1327227877 0.00001
NM_018062.4(FANCL):c.822-15T>C rs1282819073 0.00001
NM_018062.4(FANCL):c.860T>G (p.Val287Gly) rs61757387 0.00001
NM_018062.4(FANCL):c.879A>T (p.Pro293=) rs1217731968 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.894G>T (p.Leu298=) rs373364584 0.00001
NM_018062.4(FANCL):c.903+10A>G rs779834767 0.00001
NM_018062.4(FANCL):c.918T>C (p.Asp306=) rs1060504376 0.00001
NM_018062.4(FANCL):c.96+10C>T rs184741617 0.00001
NM_018062.4(FANCL):c.96+3A>T rs764782273 0.00001
NM_018062.4(FANCL):c.993A>G (p.Gln331=) rs777378352 0.00001
NM_018486.3(HDAC8):c.1052G>C (p.Ser351Thr) rs782558250 0.00001
NM_018486.3(HDAC8):c.1111+10G>T rs373892213 0.00001
NM_018486.3(HDAC8):c.135T>C (p.Ile45=) rs1556159779 0.00001
NM_018486.3(HDAC8):c.342T>C (p.Ala114=) rs1324464792 0.00001
NM_018486.3(HDAC8):c.357G>A (p.Thr119=) rs782021788 0.00001
NM_018486.3(HDAC8):c.438-17A>G rs782753936 0.00001
NM_018486.3(HDAC8):c.835A>G (p.Met279Val) rs1555993170 0.00001
NM_018486.3(HDAC8):c.910+17G>T rs782676451 0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NM_020436.5(SALL4):c.130+6dup rs750625183 0.00001
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) rs769115027 0.00001
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg) rs113920122 0.00001
NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu) rs746614693 0.00001
NM_020436.5(SALL4):c.536C>G (p.Thr179Ser) rs201303046 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020436.5(SALL4):c.732C>T (p.Ser244=) rs567647391 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.1035A>G (p.Pro345=) rs779231612 0.00001
NM_020937.4(FANCM):c.105T>C (p.Pro35=) rs1190089439 0.00001
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_020937.4(FANCM):c.106G>A (p.Gly36Ser) rs1416346759 0.00001
NM_020937.4(FANCM):c.1071C>T (p.Ile357=) rs780333012 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.111C>T (p.Ser37=) rs763486658 0.00001
NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu) rs765686151 0.00001
NM_020937.4(FANCM):c.1143A>G (p.Ser381=) rs750921743 0.00001
NM_020937.4(FANCM):c.114C>G (p.Ser38=) rs761652077 0.00001
NM_020937.4(FANCM):c.1178C>T (p.Thr393Ile) rs1029198668 0.00001
NM_020937.4(FANCM):c.117G>A (p.Lys39=) rs765275634 0.00001
NM_020937.4(FANCM):c.1183+8A>G rs538172189 0.00001
NM_020937.4(FANCM):c.1184-20C>A rs763504552 0.00001
NM_020937.4(FANCM):c.119C>G (p.Ala40Gly) rs750184645 0.00001
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter) rs1034818403 0.00001
NM_020937.4(FANCM):c.1251G>A (p.Glu417=) rs1238085525 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.1397-1G>T rs1887394029 0.00001
NM_020937.4(FANCM):c.1397-20G>A rs767201661 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.1527C>T (p.Val509=) rs1199608395 0.00001
NM_020937.4(FANCM):c.1530C>T (p.Gly510=) rs367951081 0.00001
NM_020937.4(FANCM):c.1563C>G (p.Thr521=) rs775472302 0.00001
NM_020937.4(FANCM):c.1566G>T (p.Gln522His) rs763980494 0.00001
NM_020937.4(FANCM):c.1581+17T>C rs1276397814 0.00001
NM_020937.4(FANCM):c.1598G>A (p.Arg533His) rs1183879113 0.00001
NM_020937.4(FANCM):c.15A>G (p.Gln5=) rs374315790 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.1717C>T (p.Arg573Ter) rs140760056 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.1788+10G>C rs1203353298 0.00001
NM_020937.4(FANCM):c.1789-14A>G rs980289508 0.00001
NM_020937.4(FANCM):c.1805A>G (p.Gln602Arg) rs1343909660 0.00001
NM_020937.4(FANCM):c.1845C>T (p.Asn615=) rs770287146 0.00001
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly) rs763557682 0.00001
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter) rs374626826 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.1941T>C (p.Tyr647=) rs1280545288 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.1959T>C (p.Ser653=) rs760000633 0.00001
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter) rs903442271 0.00001
NM_020937.4(FANCM):c.1974A>C (p.Arg658=) rs1888039482 0.00001
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys) rs148250143 0.00001
NM_020937.4(FANCM):c.2002+19T>C rs748316001 0.00001
NM_020937.4(FANCM):c.2002+5A>G rs1888042696 0.00001
NM_020937.4(FANCM):c.2003-16T>C rs750329568 0.00001
NM_020937.4(FANCM):c.2003-7C>T rs758398053 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.2073T>G (p.Leu691=) rs534278963 0.00001
NM_020937.4(FANCM):c.2079A>G (p.Arg693=) rs747434711 0.00001
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly) rs991105099 0.00001
NM_020937.4(FANCM):c.2163T>G (p.Ala721=) rs781479852 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.2316+12T>C rs764384464 0.00001
NM_020937.4(FANCM):c.2317-5T>C rs370111392 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.2406T>C (p.Asn802=) rs1231624693 0.00001
NM_020937.4(FANCM):c.2423C>T (p.Thr808Ile) rs200194850 0.00001
NM_020937.4(FANCM):c.244C>T (p.Leu82=) rs746349291 0.00001
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp) rs765507230 0.00001
NM_020937.4(FANCM):c.246G>A (p.Leu82=) rs1885493418 0.00001
NM_020937.4(FANCM):c.2485G>T (p.Val829Leu) rs754426327 0.00001
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter) rs1383262366 0.00001
NM_020937.4(FANCM):c.2595G>A (p.Gln865=) rs1280478322 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.2616C>T (p.His872=) rs372803974 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.2700A>G (p.Thr900=) rs1594798013 0.00001
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val) rs770155583 0.00001
NM_020937.4(FANCM):c.2715A>G (p.Glu905=) rs1230956702 0.00001
NM_020937.4(FANCM):c.2721T>G (p.Ala907=) rs150172333 0.00001
NM_020937.4(FANCM):c.2725A>G (p.Thr909Ala) rs1475086312 0.00001
NM_020937.4(FANCM):c.2745T>C (p.Asn915=) rs915093857 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.2799C>T (p.Ser933=) rs1292603050 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.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs) rs1888623566 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.2856A>G (p.Glu952=) rs1366592524 0.00001
NM_020937.4(FANCM):c.286C>T (p.Leu96=) rs1412746996 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.2898G>A (p.Glu966=) rs146050453 0.00001
NM_020937.4(FANCM):c.2922C>G (p.Asp974Glu) rs1888633712 0.00001
NM_020937.4(FANCM):c.2937T>C (p.Cys979=) rs1188507113 0.00001
NM_020937.4(FANCM):c.2962G>A (p.Ala988Thr) rs1454000944 0.00001
NM_020937.4(FANCM):c.2988T>C (p.Tyr996=) rs373971974 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.3003C>T (p.Leu1001=) rs1177034125 0.00001
NM_020937.4(FANCM):c.3023A>C (p.Glu1008Ala) rs1420000591 0.00001
NM_020937.4(FANCM):c.3048A>C (p.Ala1016=) rs1024727528 0.00001
NM_020937.4(FANCM):c.3074G>A (p.Cys1025Tyr) rs908243528 0.00001
NM_020937.4(FANCM):c.3081G>A (p.Glu1027=) rs770803476 0.00001
NM_020937.4(FANCM):c.314G>T (p.Cys105Phe) rs955997534 0.00001
NM_020937.4(FANCM):c.3150A>G (p.Glu1050=) rs1311277085 0.00001
NM_020937.4(FANCM):c.315C>T (p.Cys105=) rs371888194 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.3276A>G (p.Glu1092=) rs1042757360 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.3417T>C (p.Asp1139=) rs759993342 0.00001
NM_020937.4(FANCM):c.3435C>T (p.Asp1145=) rs760913813 0.00001
NM_020937.4(FANCM):c.343C>T (p.Leu115=) rs1200564694 0.00001
NM_020937.4(FANCM):c.3441G>A (p.Val1147=) rs371637649 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.3510G>A (p.Thr1170=) rs749416896 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.366C>G (p.Ala122=) rs770311755 0.00001
NM_020937.4(FANCM):c.3704G>T (p.Gly1235Val) rs146490925 0.00001
NM_020937.4(FANCM):c.3705A>G (p.Gly1235=) rs755896402 0.00001
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr) rs770651053 0.00001
NM_020937.4(FANCM):c.3828G>A (p.Ser1276=) rs755082451 0.00001
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=) rs188061266 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.3888C>A (p.Ile1296=) rs764040527 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.3921T>C (p.Tyr1307=) rs764339843 0.00001
NM_020937.4(FANCM):c.3960G>A (p.Leu1320=) rs745456931 0.00001
NM_020937.4(FANCM):c.3971G>A (p.Gly1324Asp) rs1888731038 0.00001
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs) rs757391108 0.00001
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs) rs1566766719 0.00001
NM_020937.4(FANCM):c.4047A>G (p.Ser1349=) rs772889740 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.4245C>T (p.Asn1415=) rs368936983 0.00001
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) rs771875070 0.00001
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=) rs1017827085 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.4359C>G (p.Val1453=) rs779903070 0.00001
NM_020937.4(FANCM):c.4375C>G (p.Pro1459Ala) rs1429932349 0.00001
NM_020937.4(FANCM):c.4387-12G>T rs776419214 0.00001
NM_020937.4(FANCM):c.4395A>G (p.Leu1465=) rs749970691 0.00001
NM_020937.4(FANCM):c.4401del (p.Ser1468fs) rs1405059699 0.00001
NM_020937.4(FANCM):c.4429C>A (p.Pro1477Thr) rs1373913163 0.00001
NM_020937.4(FANCM):c.4437A>C (p.Ser1479=) rs1889215260 0.00001
NM_020937.4(FANCM):c.4439A>G (p.Gln1480Arg) rs772095334 0.00001
NM_020937.4(FANCM):c.4449C>T (p.Asp1483=) rs1889215868 0.00001
NM_020937.4(FANCM):c.4452C>G (p.Phe1484Leu) rs143239291 0.00001
NM_020937.4(FANCM):c.4464C>T (p.Asn1488=) rs376583120 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.4536A>G (p.Leu1512=) rs1340500564 0.00001
NM_020937.4(FANCM):c.4542T>C (p.Asp1514=) rs372272824 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.4575T>C (p.Tyr1525=) rs756538862 0.00001
NM_020937.4(FANCM):c.4599G>A (p.Glu1533=) rs770525500 0.00001
NM_020937.4(FANCM):c.4624T>C (p.Leu1542=) rs1394104664 0.00001
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His) rs1251556461 0.00001
NM_020937.4(FANCM):c.4674T>C (p.Asp1558=) rs1264214406 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.4731G>A (p.Lys1577=) rs769405541 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.4860A>G (p.Glu1620=) rs776303176 0.00001
NM_020937.4(FANCM):c.4871G>T (p.Cys1624Phe) rs1457271846 0.00001
NM_020937.4(FANCM):c.4908A>G (p.Ala1636=) rs1457220401 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.5046T>C (p.Asp1682=) rs1302536129 0.00001
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg) rs763454366 0.00001
NM_020937.4(FANCM):c.509-13C>T rs1383624464 0.00001
NM_020937.4(FANCM):c.5094C>T (p.Asn1698=) rs1042174034 0.00001
NM_020937.4(FANCM):c.5103G>A (p.Gln1701=) rs1160184503 0.00001
NM_020937.4(FANCM):c.5127T>C (p.Pro1709=) rs1157235486 0.00001
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met) rs371629950 0.00001
NM_020937.4(FANCM):c.5154G>A (p.Val1718=) rs775219071 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.5221dup (p.Thr1741fs) rs758498345 0.00001
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr) rs768392812 0.00001
NM_020937.4(FANCM):c.5229C>T (p.Ser1743=) rs1298918449 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.5271G>A (p.Gln1757=) rs1193398969 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.5400A>G (p.Pro1800=) rs1220530493 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.5509C>T (p.Leu1837=) rs1890055603 0.00001
NM_020937.4(FANCM):c.5530del (p.Gln1844fs) rs778451008 0.00001
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile) rs775021812 0.00001
NM_020937.4(FANCM):c.5568C>T (p.Ile1856=) rs771670832 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.5647C>T (p.Gln1883Ter) rs1379375089 0.00001
NM_020937.4(FANCM):c.565C>G (p.Leu189Val) rs149010517 0.00001
NM_020937.4(FANCM):c.5661G>A (p.Leu1887=) rs754173937 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.5716+12T>G rs1890072677 0.00001
NM_020937.4(FANCM):c.5717-4T>A rs781258517 0.00001
NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu) rs755903696 0.00001
NM_020937.4(FANCM):c.5754T>C (p.Tyr1918=) rs772310452 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.5859A>G (p.Gln1953=) rs1162450469 0.00001
NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe) rs1890214915 0.00001
NM_020937.4(FANCM):c.6009-18G>T rs774599483 0.00001
NM_020937.4(FANCM):c.6020A>G (p.Glu2007Gly) rs1350057442 0.00001
NM_020937.4(FANCM):c.6075T>C (p.Tyr2025=) rs180764458 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.679C>T (p.Gln227Ter) rs1209536013 0.00001
NM_020937.4(FANCM):c.682-7T>C rs1012042292 0.00001
NM_020937.4(FANCM):c.693A>G (p.Glu231=) rs146597866 0.00001
NM_020937.4(FANCM):c.6C>T (p.Ser2=) rs1215540624 0.00001
NM_020937.4(FANCM):c.717T>C (p.Phe239=) rs1365220972 0.00001
NM_020937.4(FANCM):c.768A>G (p.Gln256=) rs1886616759 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.882T>G (p.Gly294=) rs1298378119 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.975T>C (p.Asp325=) rs765094256 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_021922.3(FANCE):c.1017C>T (p.Leu339=) rs1277513595 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.1053T>G (p.Leu351=) rs755165473 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.1221C>T (p.Leu407=) rs752130850 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 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.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.1384-5T>C rs777064305 0.00001
NM_021922.3(FANCE):c.1395C>T (p.Thr465=) rs770219946 0.00001
NM_021922.3(FANCE):c.148C>T (p.Leu50=) rs1278828834 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.1512C>A (p.Ile504=) rs760228323 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.1525A>C (p.Arg509=) rs1293230097 0.00001
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu) rs1256798501 0.00001
NM_021922.3(FANCE):c.1581G>A (p.Leu527=) rs757384407 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.15C>T (p.Asp5=) rs1298974698 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.248+1del rs1767163932 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln) rs369035099 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.327G>C (p.Leu109=) rs1767304773 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.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu) rs1554121253 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.466C>T (p.Leu156=) rs747537380 0.00001
NM_021922.3(FANCE):c.480C>T (p.Cys160=) rs45509302 0.00001
NM_021922.3(FANCE):c.495A>G (p.Gln165=) rs781480072 0.00001
NM_021922.3(FANCE):c.501A>G (p.Leu167=) rs769404523 0.00001
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg) rs370057221 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.540C>T (p.Ser180=) rs781691272 0.00001
NM_021922.3(FANCE):c.599G>A (p.Arg200His) rs150278839 0.00001
NM_021922.3(FANCE):c.621G>A (p.Glu207=) rs1195525206 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.693G>A (p.Lys231=) rs202207657 0.00001
NM_021922.3(FANCE):c.744A>G (p.Ala248=) rs774688796 0.00001
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr) rs766901564 0.00001
NM_021922.3(FANCE):c.786C>T (p.Gly262=) rs755421532 0.00001
NM_021922.3(FANCE):c.792C>T (p.Asp264=) rs758132363 0.00001
NM_021922.3(FANCE):c.798G>A (p.Ser266=) rs746542545 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.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_021922.3(FANCE):c.951C>T (p.His317=) rs753841588 0.00001
NM_021922.3(FANCE):c.969+16T>G rs780283194 0.00001
NM_021922.3(FANCE):c.970-18C>G rs1376629458 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_021922.3(FANCE):c.993G>A (p.Leu331=) rs1358873070 0.00001
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro) rs770592868 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_022725.4(FANCF):c.1026T>C (p.Pro342=) rs745879868 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.13C>T (p.Leu5=) rs778821124 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.201G>A (p.Arg67=) rs765970178 0.00001
NM_022725.4(FANCF):c.210C>T (p.Gly70=) rs769740744 0.00001
NM_022725.4(FANCF):c.22C>T (p.Leu8=) rs1181623769 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.24G>C (p.Leu8=) rs1035401874 0.00001
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg) rs756488831 0.00001
NM_022725.4(FANCF):c.2T>G (p.Met1Arg) rs745495865 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.384A>C (p.Thr128=) rs200307118 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.640T>C (p.Leu214=) rs773556058 0.00001
NM_022725.4(FANCF):c.675C>T (p.Gly225=) rs767689033 0.00001
NM_022725.4(FANCF):c.680A>G (p.His227Arg) rs1248152779 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
NM_022725.4(FANCF):c.699G>A (p.Gly233=) rs1565055031 0.00001
NM_022725.4(FANCF):c.705A>C (p.Gln235His) rs768107677 0.00001
NM_022725.4(FANCF):c.729G>A (p.Gly243=) rs778844305 0.00001
NM_022725.4(FANCF):c.807G>A (p.Ala269=) rs754312601 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.84C>A (p.Pro28=) rs771462007 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.927T>C (p.Asn309=) rs200073415 0.00001
NM_022725.4(FANCF):c.936A>T (p.Gln312His) rs371631248 0.00001
NM_022725.4(FANCF):c.984C>T (p.Ala328=) rs1858616188 0.00001
NM_022725.4(FANCF):c.993C>G (p.Thr331=) rs751274756 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.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 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.1430+9A>G rs371390925 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=) rs755702592 0.00001
NM_023110.3(FGFR1):c.1476G>A (p.Val492=) rs1817294749 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.1977+18C>T rs201805975 0.00001
NM_023110.3(FGFR1):c.1977+9C>T rs372632166 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2048+18A>G rs1340003441 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=) rs767613285 0.00001
NM_023110.3(FGFR1):c.2186+18T>G rs764343061 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 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.279C>T (p.Pro93=) rs781034707 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.359-7C>T rs749216266 0.00001
NM_023110.3(FGFR1):c.359-9T>C rs770811938 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.386A>C (p.Asp129Ala) rs765615419 0.00001
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro) rs764533580 0.00001
NM_023110.3(FGFR1):c.39G>A (p.Leu13=) rs760206071 0.00001
NM_023110.3(FGFR1):c.405T>C (p.Ser135=) rs374139613 0.00001
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser) rs746094709 0.00001
NM_023110.3(FGFR1):c.450C>T (p.Pro150=) rs766091702 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 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.648A>C (p.Ile216=) rs756132460 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=) rs373644620 0.00001
NM_023110.3(FGFR1):c.786C>T (p.Pro262=) rs769599671 0.00001
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe) rs1230569367 0.00001
NM_023110.3(FGFR1):c.891G>A (p.Gly297=) rs774652525 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_023110.3(FGFR1):c.937-10T>C rs757823303 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1023C>T (p.Val341=) rs957014406 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.1059C>T (p.Tyr353=) rs864622375 0.00001
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile) rs776939714 0.00001
NM_032043.3(BRIP1):c.1065C>G (p.Ala355=) rs1222801209 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=) rs761017296 0.00001
NM_032043.3(BRIP1):c.1074A>C (p.Leu358=) rs771682192 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.1117C>T (p.Leu373=) rs755992778 0.00001
NM_032043.3(BRIP1):c.1141-4A>G rs1226658018 0.00001
NM_032043.3(BRIP1):c.1152T>C (p.Asn384=) rs1055794932 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.1194C>T (p.Ile398=) rs757427498 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.120A>G (p.Gln40=) rs878855136 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.1240C>T (p.Gln414Ter) rs368796923 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.1266A>G (p.Leu422=) rs1484320639 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.1315C>T (p.Arg439Ter) rs587780226 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.1332C>T (p.Ser444=) rs200581792 0.00001
NM_032043.3(BRIP1):c.1340+17A>G rs1450290454 0.00001
NM_032043.3(BRIP1):c.1341-12A>G rs1441257544 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.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met) rs587780230 0.00001
NM_032043.3(BRIP1):c.1473+19C>T rs201603389 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.1476A>T (p.Gly492=) rs1398626535 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.1542A>G (p.Arg514=) rs779454200 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.1594dup (p.Met532fs) rs1339743866 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.1628+11A>G rs1064793459 0.00001
NM_032043.3(BRIP1):c.1628+18G>C rs1005163267 0.00001
NM_032043.3(BRIP1):c.1628+20A>G rs200292462 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.1710G>A (p.Leu570=) rs370087045 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.1731G>A (p.Lys577=) rs587780829 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.1752T>G (p.Thr584=) rs778774207 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.1794+1G>A rs766516963 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.1795-7C>G rs760326491 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.1797C>G (p.Ala599=) rs771672834 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.1935+14T>G rs773754230 0.00001
NM_032043.3(BRIP1):c.1935+15T>C rs796483567 0.00001
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His) rs1254051324 0.00001
NM_032043.3(BRIP1):c.1936-7A>T rs1427111542 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.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.1989C>A (p.Thr663=) rs376628979 0.00001
NM_032043.3(BRIP1):c.1989C>T (p.Thr663=) rs376628979 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.2031A>T (p.Gly677=) rs1288620174 0.00001
NM_032043.3(BRIP1):c.2038T>C (p.Leu680=) rs786203872 0.00001
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly) rs1294492499 0.00001
NM_032043.3(BRIP1):c.205+16A>G rs1057520253 0.00001
NM_032043.3(BRIP1):c.205+20C>G rs1567876836 0.00001
NM_032043.3(BRIP1):c.205+3A>G rs539329589 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.2098-3T>C rs1057520463 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.2121T>C (p.Arg707=) rs1481107855 0.00001
NM_032043.3(BRIP1):c.2136T>C (p.Gly712=) rs1426003140 0.00001
NM_032043.3(BRIP1):c.2155T>C (p.Leu719=) rs771122056 0.00001
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile) rs145616741 0.00001
NM_032043.3(BRIP1):c.2172T>A (p.Ile724=) rs777860588 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+17T>C rs730881639 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.2258-18T>G rs544273704 0.00001
NM_032043.3(BRIP1):c.2258-8T>C rs2077009801 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.225C>T (p.Gly75=) rs186802750 0.00001
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile) rs769573395 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 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.2295G>A (p.Val765=) rs752509701 0.00001
NM_032043.3(BRIP1):c.2301G>A (p.Glu767=) rs369434185 0.00001
NM_032043.3(BRIP1):c.2304T>C (p.Gly768=) rs1603303843 0.00001
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=) rs148752066 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.2370A>G (p.Lys790=) rs372122365 0.00001
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr) rs1289778155 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2380-3T>A rs587782542 0.00001
NM_032043.3(BRIP1):c.2382T>G (p.Val794=) rs560088455 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.2419T>C (p.Leu807=) rs786201708 0.00001
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=) rs754927538 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.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237 0.00001
NM_032043.3(BRIP1):c.2478C>T (p.Asn826=) rs774939280 0.00001
NM_032043.3(BRIP1):c.2492+5G>A rs763222019 0.00001
NM_032043.3(BRIP1):c.2493-11A>G rs890923836 0.00001
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter) rs752411477 0.00001
NM_032043.3(BRIP1):c.2505C>T (p.His835=) rs775547651 0.00001
NM_032043.3(BRIP1):c.2514T>C (p.Asp838=) rs1555574808 0.00001
NM_032043.3(BRIP1):c.2523T>C (p.Ala841=) rs1603280558 0.00001
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs) rs2061477722 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.2568T>C (p.Tyr856=) rs370175724 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.2576-7T>C rs759408257 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.2598G>A (p.Gln866=) rs769021796 0.00001
NM_032043.3(BRIP1):c.2613T>C (p.His871=) rs199721657 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.2628T>C (p.Ser876=) rs1032574757 0.00001
NM_032043.3(BRIP1):c.2646T>C (p.Ala882=) rs1342595412 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.2689A>G (p.Lys897Glu) rs587781644 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.2732dup (p.Thr912fs) rs752780954 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr) rs1003917080 0.00001
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val) rs1483709056 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.2820G>A (p.Lys940=) rs786201396 0.00001
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln) rs863224802 0.00001
NM_032043.3(BRIP1):c.2841G>A (p.Gln947=) rs786201414 0.00001
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu) rs761639530 0.00001
NM_032043.3(BRIP1):c.2874A>T (p.Leu958=) rs886041147 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.2906-15T>A rs771068891 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.2936A>G (p.Lys979Arg) rs2061326120 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.3045A>G (p.Lys1015=) rs1555572892 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.3075A>T (p.Ser1025=) rs1060504319 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.3139T>C (p.Leu1047=) rs1060504333 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.315A>G (p.Ser105=) rs1555617827 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.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NM_032043.3(BRIP1):c.3234G>A (p.Lys1078=) rs570238270 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.3243C>T (p.Ala1081=) rs754003636 0.00001
NM_032043.3(BRIP1):c.3252T>C (p.Thr1084=) rs1555572745 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.3276G>A (p.Pro1092=) rs375911315 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.3306C>T (p.Asp1102=) rs1220971956 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.3354T>C (p.Asn1118=) rs757427210 0.00001
NM_032043.3(BRIP1):c.3381T>C (p.Asp1127=) rs1403990854 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.3468T>C (p.Asn1156=) rs747624574 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.357T>C (p.Asn119=) rs786202477 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.3636T>C (p.Asn1212=) rs374392860 0.00001
NM_032043.3(BRIP1):c.3681T>C (p.His1227=) rs370581038 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.3717C>T (p.Ser1239=) rs758809865 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.380-10C>T rs1187614578 0.00001
NM_032043.3(BRIP1):c.380-11A>G rs1407822955 0.00001
NM_032043.3(BRIP1):c.380-20T>C rs748849028 0.00001
NM_032043.3(BRIP1):c.380-7A>G rs748143260 0.00001
NM_032043.3(BRIP1):c.380-9T>C rs876661141 0.00001
NM_032043.3(BRIP1):c.412T>C (p.Leu138=) rs786201292 0.00001
NM_032043.3(BRIP1):c.426A>G (p.Lys142=) rs768008017 0.00001
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys) rs762701532 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_032043.3(BRIP1):c.507+19C>T rs1057520658 0.00001
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser) rs1265322103 0.00001
NM_032043.3(BRIP1):c.51T>C (p.Phe17=) rs762827371 0.00001
NM_032043.3(BRIP1):c.537A>G (p.Glu179=) rs775509896 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.570A>G (p.Gly190=) rs1368897810 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_032043.3(BRIP1):c.627+16A>G rs1428730008 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_032043.3(BRIP1):c.628-10T>A rs375646029 0.00001
NM_032043.3(BRIP1):c.628-11C>G rs762672738 0.00001
NM_032043.3(BRIP1):c.628-20G>A rs533827333 0.00001
NM_032043.3(BRIP1):c.630C>G (p.Pro210=) rs864622510 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.684G>A (p.Glu228=) rs876659909 0.00001
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu) rs1292425366 0.00001
NM_032043.3(BRIP1):c.705G>A (p.Lys235=) rs1332585999 0.00001
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro) rs1490001091 0.00001
NM_032043.3(BRIP1):c.714A>G (p.Thr238=) rs548018916 0.00001
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro) rs771542690 0.00001
NM_032043.3(BRIP1):c.732C>A (p.Pro244=) rs786202300 0.00001
NM_032043.3(BRIP1):c.750A>G (p.Thr250=) rs1057522393 0.00001
NM_032043.3(BRIP1):c.752G>A (p.Arg251His) rs780834054 0.00001
NM_032043.3(BRIP1):c.753C>T (p.Arg251=) rs876659416 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.795G>A (p.Arg265=) rs61754143 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.867C>T (p.Val289=) rs147739458 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.919-10T>G rs748497834 0.00001
NM_032043.3(BRIP1):c.919-17T>C rs770416347 0.00001
NM_032043.3(BRIP1):c.919-8G>T rs777079928 0.00001
NM_032043.3(BRIP1):c.93+13C>T rs2078970776 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.972A>T (p.Thr324=) rs779627397 0.00001
NM_032043.3(BRIP1):c.975A>G (p.Leu325=) rs771630777 0.00001
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe) rs772319724 0.00001
NM_032043.3(BRIP1):c.984C>T (p.Phe328=) rs745379285 0.00001
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424 0.00001
NM_032444.4(SLX4):c.1011G>A (p.Pro337=) rs778310070 0.00001
NM_032444.4(SLX4):c.1026G>A (p.Pro342=) rs755211335 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.1140T>C (p.Gly380=) rs1255116355 0.00001
NM_032444.4(SLX4):c.1143C>T (p.Ser381=) rs1398627485 0.00001
NM_032444.4(SLX4):c.1155C>T (p.Pro385=) rs763763182 0.00001
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys) rs199774640 0.00001
NM_032444.4(SLX4):c.1163+11G>A rs2040719573 0.00001
NM_032444.4(SLX4):c.1163+5G>A rs762454252 0.00001
NM_032444.4(SLX4):c.1163+7C>T rs1367462435 0.00001
NM_032444.4(SLX4):c.1178G>A (p.Ser393Asn) rs112301713 0.00001
NM_032444.4(SLX4):c.1179T>C (p.Ser393=) rs772030041 0.00001
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu) rs202204661 0.00001
NM_032444.4(SLX4):c.1251G>A (p.Pro417=) rs780972710 0.00001
NM_032444.4(SLX4):c.1284C>T (p.Ser428=) rs2040683174 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.1308G>A (p.Ala436=) rs147915773 0.00001
NM_032444.4(SLX4):c.1320G>A (p.Ala440=) rs776448104 0.00001
NM_032444.4(SLX4):c.1366+7G>A rs199889969 0.00001
NM_032444.4(SLX4):c.1367-18G>A rs771618757 0.00001
NM_032444.4(SLX4):c.13G>A (p.Val5Met) rs750091754 0.00001
NM_032444.4(SLX4):c.1407A>G (p.Pro469=) rs1567174102 0.00001
NM_032444.4(SLX4):c.1429G>C (p.Glu477Gln) rs748957904 0.00001
NM_032444.4(SLX4):c.1437A>G (p.Thr479=) rs376641868 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 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.1629G>A (p.Glu543=) rs749696604 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.1647G>A (p.Arg549=) rs1596527389 0.00001
NM_032444.4(SLX4):c.1673G>A (p.Arg558Gln) rs773558127 0.00001
NM_032444.4(SLX4):c.1683+15T>C rs1215077519 0.00001
NM_032444.4(SLX4):c.1684-15dup rs1434348843 0.00001
NM_032444.4(SLX4):c.1691T>C (p.Met564Thr) rs1315121473 0.00001
NM_032444.4(SLX4):c.1698G>A (p.Glu566=) rs1284128847 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.171C>T (p.Ser57=) rs1193950128 0.00001
NM_032444.4(SLX4):c.1734G>A (p.Glu578=) rs777492094 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.1845C>T (p.Leu615=) rs1056084 0.00001
NM_032444.4(SLX4):c.1856C>T (p.Ala619Val) rs371325486 0.00001
NM_032444.4(SLX4):c.1872C>T (p.Ser624=) rs767618166 0.00001
NM_032444.4(SLX4):c.1900C>T (p.Leu634=) rs768182554 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.1992G>A (p.Pro664=) rs770441819 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.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.2118C>T (p.His706=) rs371401752 0.00001
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe) rs768477511 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser) rs770015489 0.00001
NM_032444.4(SLX4):c.2166C>T (p.Asn722=) rs767528538 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.2289T>C (p.Pro763=) rs1389488864 0.00001
NM_032444.4(SLX4):c.2328-7G>A rs761644117 0.00001
NM_032444.4(SLX4):c.2334C>T (p.Gly778=) rs1235572029 0.00001
NM_032444.4(SLX4):c.2349T>C (p.Val783=) rs1229447712 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.2412A>G (p.Glu804=) rs753755892 0.00001
NM_032444.4(SLX4):c.2421T>C (p.Asn807=) rs760214045 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.2455T>C (p.Leu819=) rs2040589478 0.00001
NM_032444.4(SLX4):c.2464A>G (p.Met822Val) rs779985555 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 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.2517C>T (p.His839=) rs766929821 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.2682C>T (p.Val894=) rs751088370 0.00001
NM_032444.4(SLX4):c.2684A>G (p.Gln895Arg) rs779708181 0.00001
NM_032444.4(SLX4):c.2724G>A (p.Pro908=) rs760071419 0.00001
NM_032444.4(SLX4):c.2725T>C (p.Leu909=) rs774477719 0.00001
NM_032444.4(SLX4):c.2776T>C (p.Cys926Arg) rs201703364 0.00001
NM_032444.4(SLX4):c.2778C>T (p.Cys926=) rs375872764 0.00001
NM_032444.4(SLX4):c.2779G>A (p.Ala927Thr) rs767916829 0.00001
NM_032444.4(SLX4):c.2784C>T (p.Leu928=) rs372754390 0.00001
NM_032444.4(SLX4):c.279C>G (p.Thr93=) rs543091261 0.00001
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs) rs767631456 0.00001
NM_032444.4(SLX4):c.2828C>A (p.Ala943Asp) rs745380963 0.00001
NM_032444.4(SLX4):c.2850G>A (p.Glu950=) rs751882942 0.00001
NM_032444.4(SLX4):c.2856G>A (p.Ala952=) rs1434868021 0.00001
NM_032444.4(SLX4):c.2889G>A (p.Arg963=) rs201978747 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.2925G>A (p.Pro975=) rs1431725463 0.00001
NM_032444.4(SLX4):c.2928C>G (p.His976Gln) rs1054086781 0.00001
NM_032444.4(SLX4):c.2964A>G (p.Ser988=) rs1596522182 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.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=) rs1313995893 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.3245A>G (p.Gln1082Arg) rs368657696 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.3363T>C (p.Ser1121=) rs770731522 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.3388A>G (p.Asn1130Asp) rs1276163880 0.00001
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr) rs1391353238 0.00001
NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu) rs769688259 0.00001
NM_032444.4(SLX4):c.3507G>A (p.Lys1169=) rs183926603 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.3588T>C (p.Asp1196=) rs112016711 0.00001
NM_032444.4(SLX4):c.3594T>C (p.Asp1198=) rs1238819543 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.3634G>A (p.Ala1212Thr) rs574844562 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.3741G>A (p.Glu1247=) rs769032315 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.3810T>C (p.Ser1270=) rs563781078 0.00001
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly) rs1252550783 0.00001
NM_032444.4(SLX4):c.3858G>A (p.Ala1286=) rs771503932 0.00001
NM_032444.4(SLX4):c.3894C>G (p.Asn1298Lys) rs1260811996 0.00001
NM_032444.4(SLX4):c.3894C>T (p.Asn1298=) rs1260811996 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.3906C>T (p.Asn1302=) rs763731687 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.3981C>T (p.Pro1327=) rs752013274 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.4056G>A (p.Pro1352=) rs768415277 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.4098C>T (p.Arg1366=) rs770811758 0.00001
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu) rs770241338 0.00001
NM_032444.4(SLX4):c.4134G>A (p.Pro1378=) rs760757846 0.00001
NM_032444.4(SLX4):c.4182A>G (p.Glu1394=) rs1232843058 0.00001
NM_032444.4(SLX4):c.4197C>T (p.Asp1399=) rs146079010 0.00001
NM_032444.4(SLX4):c.423G>A (p.Gly141=) rs111405249 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.429G>A (p.Val143=) rs747624579 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.4359C>T (p.Ser1453=) rs776711072 0.00001
NM_032444.4(SLX4):c.4383C>T (p.Ala1461=) rs556719111 0.00001
NM_032444.4(SLX4):c.4386C>T (p.Ala1462=) rs747185125 0.00001
NM_032444.4(SLX4):c.4397A>G (p.Asp1466Gly) rs753668854 0.00001
NM_032444.4(SLX4):c.4410G>A (p.Pro1470=) rs1555449966 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.4524G>A (p.Ser1508=) rs1423670990 0.00001
NM_032444.4(SLX4):c.4536C>T (p.Asp1512=) rs1212941188 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.4563T>C (p.Pro1521=) rs200225783 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.4636+10C>G rs757181978 0.00001
NM_032444.4(SLX4):c.4683G>A (p.Thr1561=) rs141196682 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+1G>T rs759186986 0.00001
NM_032444.4(SLX4):c.4739+2T>C rs774356384 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.4797C>T (p.Phe1599=) rs1159059195 0.00001
NM_032444.4(SLX4):c.4815C>G (p.Thr1605=) rs752758310 0.00001
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala) rs1480904013 0.00001
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=) rs767845523 0.00001
NM_032444.4(SLX4):c.4845G>C (p.Gln1615His) rs988625732 0.00001
NM_032444.4(SLX4):c.486G>A (p.Thr162=) rs762711558 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.4887C>T (p.Leu1629=) rs761814315 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.4947A>G (p.Thr1649=) rs540634044 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.5056G>A (p.Ala1686Thr) rs751219957 0.00001
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val) rs761226343 0.00001
NM_032444.4(SLX4):c.5097T>A (p.Ser1699=) rs202099433 0.00001
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn) rs754498907 0.00001
NM_032444.4(SLX4):c.5153+7G>A rs370334914 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.5214G>A (p.Gly1738=) rs369714623 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.5289G>A (p.Lys1763=) rs759412447 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.531C>G (p.Thr177=) rs749641379 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.536-12C>T rs1190879833 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.5436C>T (p.Ala1812=) rs200473811 0.00001
NM_032444.4(SLX4):c.5445G>A (p.Arg1815=) rs199998573 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.645G>A (p.Gln215=) rs1449991903 0.00001
NM_032444.4(SLX4):c.702G>C (p.Glu234Asp) rs201161027 0.00001
NM_032444.4(SLX4):c.755G>A (p.Gly252Glu) rs1060501795 0.00001
NM_032444.4(SLX4):c.792C>T (p.Ser264=) rs201383482 0.00001
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr) rs755289589 0.00001
NM_032444.4(SLX4):c.813C>T (p.Thr271=) rs765351938 0.00001
NM_032444.4(SLX4):c.842C>G (p.Ala281Gly) rs1263321133 0.00001
NM_032444.4(SLX4):c.843A>G (p.Ala281=) rs1009573141 0.00001
NM_032444.4(SLX4):c.860G>T (p.Ser287Ile) rs1264580208 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 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.888C>T (p.Cys296=) rs758846114 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.950+7G>A rs772672664 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_032634.4(PIGO):c.1046C>T (p.Ser349Leu) rs371657025 0.00001
NM_032634.4(PIGO):c.1049G>C (p.Gly350Ala) rs368691880 0.00001
NM_032634.4(PIGO):c.1083A>G (p.Leu361=) rs773370567 0.00001
NM_032634.4(PIGO):c.1087C>T (p.Gln363Ter) rs1829507609 0.00001
NM_032634.4(PIGO):c.1109A>G (p.Asn370Ser) rs1214104267 0.00001
NM_032634.4(PIGO):c.1122G>A (p.Val374=) rs549662606 0.00001
NM_032634.4(PIGO):c.1136A>C (p.His379Pro) rs1285901155 0.00001
NM_032634.4(PIGO):c.113A>G (p.His38Arg) rs993053284 0.00001
NM_032634.4(PIGO):c.1151C>T (p.Ala384Val) rs745507962 0.00001
NM_032634.4(PIGO):c.1199T>C (p.Phe400Ser) rs1322962283 0.00001
NM_032634.4(PIGO):c.1222C>T (p.Gln408Ter) rs750636989 0.00001
NM_032634.4(PIGO):c.1255G>A (p.Ala419Thr) rs879658217 0.00001
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val) rs777439274 0.00001
NM_032634.4(PIGO):c.1269T>C (p.Thr423=) rs1399537198 0.00001
NM_032634.4(PIGO):c.1283T>A (p.Leu428Gln) rs182396158 0.00001
NM_032634.4(PIGO):c.1307G>A (p.Arg436Gln) rs772960218 0.00001
NM_032634.4(PIGO):c.1321G>A (p.Glu441Lys) rs148970282 0.00001
NM_032634.4(PIGO):c.1333C>T (p.Arg445Cys) rs779260324 0.00001
NM_032634.4(PIGO):c.1348C>T (p.Arg450Cys) rs756670230 0.00001
NM_032634.4(PIGO):c.1355C>T (p.Ala452Val) rs767418527 0.00001
NM_032634.4(PIGO):c.1356G>C (p.Ala452=) rs759532728 0.00001
NM_032634.4(PIGO):c.1359G>A (p.Gly453=) rs368706055 0.00001
NM_032634.4(PIGO):c.1363A>G (p.Thr455Ala) rs766309374 0.00001
NM_032634.4(PIGO):c.1367C>T (p.Ala456Val) rs202109643 0.00001
NM_032634.4(PIGO):c.1369C>G (p.Leu457Val) rs769460289 0.00001
NM_032634.4(PIGO):c.1416A>T (p.Ala472=) rs749630366 0.00001
NM_032634.4(PIGO):c.1441C>T (p.Pro481Ser) rs146556990 0.00001
NM_032634.4(PIGO):c.1444C>T (p.Leu482=) rs1348890946 0.00001
NM_032634.4(PIGO):c.1526A>T (p.Asp509Val) rs1307463691 0.00001
NM_032634.4(PIGO):c.1549G>A (p.Ala517Thr) rs781222643 0.00001
NM_032634.4(PIGO):c.1607A>G (p.Lys536Arg) rs559748160 0.00001
NM_032634.4(PIGO):c.1612C>G (p.Pro538Ala) rs763462649 0.00001
NM_032634.4(PIGO):c.1618G>C (p.Ala540Pro) rs1404216766 0.00001
NM_032634.4(PIGO):c.1622C>T (p.Thr541Ile) rs748438924 0.00001
NM_032634.4(PIGO):c.1644C>T (p.Pro548=) rs776953036 0.00001
NM_032634.4(PIGO):c.1708G>A (p.Ala570Thr) rs767046819 0.00001
NM_032634.4(PIGO):c.1718C>T (p.Thr573Ile) rs185911232 0.00001
NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser) rs765632190 0.00001
NM_032634.4(PIGO):c.1737A>G (p.Ser579=) rs775812284 0.00001
NM_032634.4(PIGO):c.1809C>T (p.Pro603=) rs148443358 0.00001
NM_032634.4(PIGO):c.1844G>A (p.Arg615Gln) rs142897141 0.00001
NM_032634.4(PIGO):c.1869G>A (p.Arg623=) rs1377334648 0.00001
NM_032634.4(PIGO):c.1884G>A (p.Leu628=) rs746618634 0.00001
NM_032634.4(PIGO):c.1904C>G (p.Ala635Gly) rs1829445064 0.00001
NM_032634.4(PIGO):c.1916A>G (p.His639Arg) rs1829444705 0.00001
NM_032634.4(PIGO):c.1945C>T (p.His649Tyr) rs759688557 0.00001
NM_032634.4(PIGO):c.1955C>A (p.Pro652His) rs375182208 0.00001
NM_032634.4(PIGO):c.2030T>C (p.Leu677Pro) rs1587164392 0.00001
NM_032634.4(PIGO):c.2039T>C (p.Leu680Pro) rs766592273 0.00001
NM_032634.4(PIGO):c.2050G>A (p.Val684Met) rs761745437 0.00001
NM_032634.4(PIGO):c.2065C>T (p.Arg689Cys) rs775041042 0.00001
NM_032634.4(PIGO):c.2069G>A (p.Arg690His) rs778578535 0.00001
NM_032634.4(PIGO):c.206G>A (p.Arg69Gln) rs1479047885 0.00001
NM_032634.4(PIGO):c.2080C>A (p.Leu694Ile) rs1489661507 0.00001
NM_032634.4(PIGO):c.2082C>G (p.Leu694=) rs781688792 0.00001
NM_032634.4(PIGO):c.2091C>T (p.Pro697=) rs751948800 0.00001
NM_032634.4(PIGO):c.2113C>T (p.Arg705Cys) rs551682667 0.00001
NM_032634.4(PIGO):c.2114G>A (p.Arg705His) rs761836966 0.00001
NM_032634.4(PIGO):c.2119G>A (p.Gly707Arg) rs1013394440 0.00001
NM_032634.4(PIGO):c.2168C>T (p.Ser723Leu) rs1554672556 0.00001
NM_032634.4(PIGO):c.217G>T (p.Val73Leu) rs371057978 0.00001
NM_032634.4(PIGO):c.2233C>T (p.Arg745Trp) rs762428877 0.00001
NM_032634.4(PIGO):c.2234G>A (p.Arg745Gln) rs371317684 0.00001
NM_032634.4(PIGO):c.2235G>A (p.Arg745=) rs1286743624 0.00001
NM_032634.4(PIGO):c.2253T>C (p.Ala751=) rs775929587 0.00001
NM_032634.4(PIGO):c.2285C>T (p.Pro762Leu) rs767539954 0.00001
NM_032634.4(PIGO):c.2313A>G (p.Ala771=) rs764827608 0.00001
NM_032634.4(PIGO):c.2316C>T (p.Gly772=) rs761210725 0.00001
NM_032634.4(PIGO):c.2347T>C (p.Phe783Leu) rs1314015092 0.00001
NM_032634.4(PIGO):c.2355C>T (p.Gly785=) rs766309673 0.00001
NM_032634.4(PIGO):c.2360C>G (p.Pro787Arg) rs1396329353 0.00001
NM_032634.4(PIGO):c.237A>G (p.Arg79=) rs376966684 0.00001
NM_032634.4(PIGO):c.2405G>A (p.Arg802Gln) rs771347652 0.00001
NM_032634.4(PIGO):c.2411T>G (p.Met804Arg) rs763204004 0.00001
NM_032634.4(PIGO):c.2435T>C (p.Leu812Ser) rs746967719 0.00001
NM_032634.4(PIGO):c.2458C>T (p.Pro820Ser) rs1413004957 0.00001
NM_032634.4(PIGO):c.2461C>T (p.Leu821=) rs758257961 0.00001
NM_032634.4(PIGO):c.2474C>T (p.Ala825Val) rs750185627 0.00001
NM_032634.4(PIGO):c.2485G>A (p.Gly829Arg) rs149950408 0.00001
NM_032634.4(PIGO):c.2497T>G (p.Ser833Ala) rs931445470 0.00001
NM_032634.4(PIGO):c.2526G>T (p.Leu842=) rs1587161908 0.00001
NM_032634.4(PIGO):c.2555C>T (p.Ala852Val) rs768909165 0.00001
NM_032634.4(PIGO):c.2556G>A (p.Ala852=) rs1237736509 0.00001
NM_032634.4(PIGO):c.2574G>C (p.Val858=) rs188635839 0.00001
NM_032634.4(PIGO):c.2584C>G (p.Leu862Val) rs377645902 0.00001
NM_032634.4(PIGO):c.258G>A (p.Gln86=) rs113007517 0.00001
NM_032634.4(PIGO):c.2612A>C (p.His871Pro) rs909488930 0.00001
NM_032634.4(PIGO):c.2647+8T>C rs1413916804 0.00001
NM_032634.4(PIGO):c.2648-18G>A rs1187825054 0.00001
NM_032634.4(PIGO):c.2648-1G>A rs755750516 0.00001
NM_032634.4(PIGO):c.2663C>A (p.Pro888Gln) rs1829377572 0.00001
NM_032634.4(PIGO):c.2664A>G (p.Pro888=) rs780598733 0.00001
NM_032634.4(PIGO):c.2673A>G (p.Ala891=) rs754462625 0.00001
NM_032634.4(PIGO):c.2696C>G (p.Ala899Gly) rs774193694 0.00001
NM_032634.4(PIGO):c.2699C>T (p.Thr900Ile) rs770850061 0.00001
NM_032634.4(PIGO):c.272C>G (p.Pro91Arg) rs995820474 0.00001
NM_032634.4(PIGO):c.2747A>G (p.His916Arg) rs1331077224 0.00001
NM_032634.4(PIGO):c.2764G>A (p.Val922Met) rs756455405 0.00001
NM_032634.4(PIGO):c.2767G>A (p.Gly923Arg) rs1285786753 0.00001
NM_032634.4(PIGO):c.2773C>T (p.Pro925Ser) rs767750872 0.00001
NM_032634.4(PIGO):c.2792G>A (p.Cys931Tyr) rs891303491 0.00001
NM_032634.4(PIGO):c.2793T>C (p.Cys931=) rs1829368380 0.00001
NM_032634.4(PIGO):c.2803C>T (p.Pro935Ser) rs1160072970 0.00001
NM_032634.4(PIGO):c.2811G>A (p.Leu937=) rs1829367601 0.00001
NM_032634.4(PIGO):c.2817G>A (p.Val939=) rs371834214 0.00001
NM_032634.4(PIGO):c.2826C>T (p.Asn942=) rs1197727015 0.00001
NM_032634.4(PIGO):c.2852C>T (p.Ala951Val) rs761635526 0.00001
NM_032634.4(PIGO):c.2855-3C>T rs746026821 0.00001
NM_032634.4(PIGO):c.2874G>C (p.Leu958=) rs1269359376 0.00001
NM_032634.4(PIGO):c.2891G>A (p.Cys964Tyr) rs148648652 0.00001
NM_032634.4(PIGO):c.2995C>T (p.Arg999Trp) rs61746764 0.00001
NM_032634.4(PIGO):c.2996G>A (p.Arg999Gln) rs1160814644 0.00001
NM_032634.4(PIGO):c.3014T>C (p.Phe1005Ser) rs1829344388 0.00001
NM_032634.4(PIGO):c.3061G>A (p.Gly1021Ser) rs1006221471 0.00001
NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala) rs139423183 0.00001
NM_032634.4(PIGO):c.3069G>T (p.Gln1023His) rs746286276 0.00001
NM_032634.4(PIGO):c.3070-18C>T rs757401378 0.00001
NM_032634.4(PIGO):c.3135C>T (p.Ala1045=) rs771048903 0.00001
NM_032634.4(PIGO):c.3141-13C>T rs1308554473 0.00001
NM_032634.4(PIGO):c.3169G>T (p.Val1057Leu) rs1374835915 0.00001
NM_032634.4(PIGO):c.3198A>G (p.Ile1066Met) rs1205267378 0.00001
NM_032634.4(PIGO):c.324G>T (p.Gln108His) rs773937388 0.00001
NM_032634.4(PIGO):c.333G>A (p.Leu111=) rs1334218397 0.00001
NM_032634.4(PIGO):c.342G>T (p.Gln114His) rs1470054515 0.00001
NM_032634.4(PIGO):c.348C>T (p.His116=) rs1180613769 0.00001
NM_032634.4(PIGO):c.362A>G (p.Tyr121Cys) rs1283775272 0.00001
NM_032634.4(PIGO):c.371A>C (p.Gln124Pro) rs1204483753 0.00001
NM_032634.4(PIGO):c.372G>T (p.Gln124His) rs952844998 0.00001
NM_032634.4(PIGO):c.398A>G (p.Gln133Arg) rs1384669720 0.00001
NM_032634.4(PIGO):c.448G>A (p.Gly150Ser) rs774734630 0.00001
NM_032634.4(PIGO):c.459C>T (p.Phe153=) rs201331400 0.00001
NM_032634.4(PIGO):c.460G>A (p.Ala154Thr) rs201813691 0.00001
NM_032634.4(PIGO):c.469G>A (p.Ala157Thr) rs542399310 0.00001
NM_032634.4(PIGO):c.477G>A (p.Val159=) rs761159621 0.00001
NM_032634.4(PIGO):c.484A>G (p.Asn162Asp) rs776095449 0.00001
NM_032634.4(PIGO):c.490A>G (p.Ile164Val) rs1425816362 0.00001
NM_032634.4(PIGO):c.511G>T (p.Gly171Ter) rs1247927038 0.00001
NM_032634.4(PIGO):c.512-7C>T rs760113080 0.00001
NM_032634.4(PIGO):c.531G>A (p.Met177Ile) rs769886723 0.00001
NM_032634.4(PIGO):c.579T>C (p.Ala193=) rs778672240 0.00001
NM_032634.4(PIGO):c.588C>T (p.Phe196=) rs753452597 0.00001
NM_032634.4(PIGO):c.594C>A (p.Ser198=) rs945097037 0.00001
NM_032634.4(PIGO):c.618A>G (p.Thr206=) rs1829567186 0.00001
NM_032634.4(PIGO):c.651C>A (p.Pro217=) rs1215068157 0.00001
NM_032634.4(PIGO):c.655+12G>A rs1396401104 0.00001
NM_032634.4(PIGO):c.693C>G (p.Phe231Leu) rs1587173214 0.00001
NM_032634.4(PIGO):c.698G>A (p.Gly233Asp) rs1210708486 0.00001
NM_032634.4(PIGO):c.710G>T (p.Cys237Phe) rs773052205 0.00001
NM_032634.4(PIGO):c.739G>A (p.Glu247Lys) rs1266167213 0.00001
NM_032634.4(PIGO):c.749A>G (p.Lys250Arg) rs200782253 0.00001
NM_032634.4(PIGO):c.773del (p.Val258fs) rs765723177 0.00001
NM_032634.4(PIGO):c.777C>T (p.Ile259=) rs752829826 0.00001
NM_032634.4(PIGO):c.780-17C>T rs201657567 0.00001
NM_032634.4(PIGO):c.780-7C>T rs751631767 0.00001
NM_032634.4(PIGO):c.782G>C (p.Gly261Ala) rs762970543 0.00001
NM_032634.4(PIGO):c.793C>T (p.Arg265Cys) rs765131021 0.00001
NM_032634.4(PIGO):c.817G>A (p.Val273Ile) rs776286607 0.00001
NM_032634.4(PIGO):c.828G>C (p.Gly276=) rs1487288215 0.00001
NM_032634.4(PIGO):c.852A>G (p.Gly284=) rs1371825838 0.00001
NM_032634.4(PIGO):c.890C>G (p.Ala297Gly) rs760357843 0.00001
NM_032634.4(PIGO):c.902A>G (p.Tyr301Cys) rs771571749 0.00001
NM_032634.4(PIGO):c.907C>T (p.Pro303Ser) rs1175305039 0.00001
NM_032634.4(PIGO):c.937G>C (p.Glu313Gln) rs747260799 0.00001
NM_032634.4(PIGO):c.939+10G>A rs1587170803 0.00001
NM_032634.4(PIGO):c.95G>A (p.Arg32His) rs550039576 0.00001
NM_032634.4(PIGO):c.961G>C (p.Val321Leu) rs1829514232 0.00001
NM_032634.4(PIGO):c.978G>A (p.Thr326=) rs1423655238 0.00001
NM_032634.4(PIGO):c.984C>T (p.Ala328=) rs774644826 0.00001
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615 0.00001
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=) rs1057521598 0.00001
NM_058216.3(RAD51C):c.1016T>C (p.Phe339Ser) rs1060502602 0.00001
NM_058216.3(RAD51C):c.1027-3C>T rs587782459 0.00001
NM_058216.3(RAD51C):c.102T>G (p.Thr34=) rs550757849 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.1077A>G (p.Thr359=) rs763424319 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.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.145+11C>G rs1263551026 0.00001
NM_058216.3(RAD51C):c.145+13G>A rs1177750681 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.15G>T (p.Thr5=) rs777585467 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.240G>A (p.Glu80=) rs779053608 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.276G>A (p.Glu92=) rs1217274682 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.363A>G (p.Thr121=) rs876659626 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+16C>G rs376465837 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 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.414G>C (p.Leu138Phe) rs267606999 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.537C>T (p.His179=) rs372385738 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.572-11T>G rs746890699 0.00001
NM_058216.3(RAD51C):c.572-15G>A rs757896995 0.00001
NM_058216.3(RAD51C):c.572-20A>C rs933464572 0.00001
NM_058216.3(RAD51C):c.572-2A>G rs145310733 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.651A>G (p.Thr217=) rs757915374 0.00001
NM_058216.3(RAD51C):c.653A>G (p.Glu218Gly) rs1321358603 0.00001
NM_058216.3(RAD51C):c.654G>A (p.Glu218=) rs1388636466 0.00001
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791 0.00001
NM_058216.3(RAD51C):c.66G>A (p.Ala22=) rs876660695 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.692C>G (p.Ser231Ter) rs1060502588 0.00001
NM_058216.3(RAD51C):c.6C>T (p.Arg2=) rs1334508786 0.00001
NM_058216.3(RAD51C):c.706-17A>G rs772028189 0.00001
NM_058216.3(RAD51C):c.706-6A>G rs776931174 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln) rs370393672 0.00001
NM_058216.3(RAD51C):c.714A>G (p.Leu238=) rs1251441432 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.75G>A (p.Val25=) rs779332818 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.78G>A (p.Lys26=) rs864622460 0.00001
NM_058216.3(RAD51C):c.79C>T (p.Leu27=) rs786201775 0.00001
NM_058216.3(RAD51C):c.837+10A>C rs1438994462 0.00001
NM_058216.3(RAD51C):c.837+16T>G rs776692560 0.00001
NM_058216.3(RAD51C):c.838-15A>G rs150042209 0.00001
NM_058216.3(RAD51C):c.838-16C>T rs374620446 0.00001
NM_058216.3(RAD51C):c.840A>G (p.Val280=) rs756503509 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.904+16G>C rs929872458 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.904+8A>G rs2048894791 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_058216.3(RAD51C):c.905-5C>T rs371968149 0.00001
NM_058216.3(RAD51C):c.905-7C>T rs757624360 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 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.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_058216.3(RAD51C):c.965+4A>G rs1555603065 0.00001
NM_058216.3(RAD51C):c.966-12T>C rs1057522948 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.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_058216.3(RAD51C):c.982A>G (p.Lys328Glu) rs1555605064 0.00001
NM_058216.3(RAD51C):c.9G>C (p.Gly3=) rs751117852 0.00001
NM_130468.4(CHST14):c.1010A>G (p.His337Arg) rs772159874 0.00001
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr) rs896003662 0.00001
NM_130468.4(CHST14):c.171del (p.Leu58fs) rs1256212335 0.00001
NM_130468.4(CHST14):c.180C>T (p.Ile60=) rs938393246 0.00001
NM_130468.4(CHST14):c.189C>T (p.Gly63=) rs1398111943 0.00001
NM_130468.4(CHST14):c.198C>G (p.Ala66=) rs1014902072 0.00001
NM_130468.4(CHST14):c.217C>T (p.Leu73=) rs1482604204 0.00001
NM_130468.4(CHST14):c.297C>T (p.Asp99=) rs1328842726 0.00001
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) rs201632751 0.00001
NM_130468.4(CHST14):c.378C>G (p.Pro126=) rs752221539 0.00001
NM_130468.4(CHST14):c.401G>A (p.Arg134Gln) rs1484119071 0.00001
NM_130468.4(CHST14):c.439T>C (p.Tyr147His) rs775350610 0.00001
NM_130468.4(CHST14):c.45C>G (p.Ala15=) rs1566969002 0.00001
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg) rs1017593366 0.00001
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly) rs1595869476 0.00001
NM_130468.4(CHST14):c.580C>T (p.Leu194=) rs1310579126 0.00001
NM_130468.4(CHST14):c.582G>A (p.Leu194=) rs1377861803 0.00001
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_130468.4(CHST14):c.642G>A (p.Glu214=) rs146662235 0.00001
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) rs370299419 0.00001
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp) rs766320306 0.00001
NM_130468.4(CHST14):c.732G>C (p.Arg244=) rs1208945086 0.00001
NM_130468.4(CHST14):c.801G>C (p.Leu267=) rs998708059 0.00001
NM_130468.4(CHST14):c.822C>G (p.Arg274=) rs111456654 0.00001
NM_130468.4(CHST14):c.843C>T (p.Pro281=) rs778120798 0.00001
NM_130468.4(CHST14):c.871G>A (p.Val291Met) rs369563820 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu) rs1389417786 0.00001
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp) rs767533841 0.00001
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys) rs373443856 0.00001
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter) rs1555410784 0.00001
NM_130468.4(CHST14):c.978C>T (p.Ala326=) rs576061822 0.00001
NM_130468.4(CHST14):c.99G>A (p.Gly33=) rs545629118 0.00001
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) rs587783881 0.00001
NM_133433.4(NIPBL):c.1224A>G (p.Gln408=) rs764746811 0.00001
NM_133433.4(NIPBL):c.123C>T (p.Leu41=) rs774269226 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.1496-9A>G rs754119799 0.00001
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584 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.230+10A>T rs1342924796 0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) rs587783903 0.00001
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370 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.2703T>C (p.Asn901=) rs774346043 0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916 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.3574+20A>C rs530238141 0.00001
NM_133433.4(NIPBL):c.3574+7C>T rs1382498807 0.00001
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=) rs372752190 0.00001
NM_133433.4(NIPBL):c.3894C>G (p.Asp1298Glu) rs770936588 0.00001
NM_133433.4(NIPBL):c.4087+9G>A rs757255852 0.00001
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=) rs752419634 0.00001
NM_133433.4(NIPBL):c.42G>A (p.Ala14=) rs727504045 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.5225+7T>A rs767449402 0.00001
NM_133433.4(NIPBL):c.5226-9T>G rs774131588 0.00001
NM_133433.4(NIPBL):c.5403T>C (p.Ala1801=) rs1394378576 0.00001
NM_133433.4(NIPBL):c.585C>T (p.Tyr195=) rs80358360 0.00001
NM_133433.4(NIPBL):c.606A>G (p.Gln202=) rs1233849776 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.6400C>T (p.Leu2134=) rs372730081 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.7602C>T (p.Ile2534=) rs398124472 0.00001
NM_147127.5(EVC2):c.1006-12A>G rs1205381388 0.00001
NM_147127.5(EVC2):c.1006-7C>T rs760800233 0.00001
NM_147127.5(EVC2):c.1035C>G (p.Pro345=) rs1719022666 0.00001
NM_147127.5(EVC2):c.1056T>C (p.Asp352=) rs900466909 0.00001
NM_147127.5(EVC2):c.1062G>A (p.Val354=) rs756157217 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.1107T>C (p.Ser369=) rs776250707 0.00001
NM_147127.5(EVC2):c.1134A>G (p.Gln378=) rs756310412 0.00001
NM_147127.5(EVC2):c.1146-9G>T rs774847750 0.00001
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu) rs1468421367 0.00001
NM_147127.5(EVC2):c.1245C>G (p.Thr415=) rs747208576 0.00001
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) rs1369020144 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1380G>C (p.Leu460=) rs1438407396 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1392G>A (p.Lys464=) rs1362654881 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1440A>G (p.Ala480=) rs779955202 0.00001
NM_147127.5(EVC2):c.1455A>G (p.Lys485=) rs1371814417 0.00001
NM_147127.5(EVC2):c.1476T>C (p.Ala492=) rs141479252 0.00001
NM_147127.5(EVC2):c.1485C>T (p.Cys495=) rs911180448 0.00001
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile) rs1209098952 0.00001
NM_147127.5(EVC2):c.1542C>T (p.Leu514=) rs376252506 0.00001
NM_147127.5(EVC2):c.1545T>A (p.Ala515=) rs1716570565 0.00001
NM_147127.5(EVC2):c.1584G>A (p.Gln528=) rs1273439269 0.00001
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789 0.00001
NM_147127.5(EVC2):c.1650C>T (p.Phe550=) rs765432520 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.1710+10C>T rs779023251 0.00001
NM_147127.5(EVC2):c.1711-6T>A rs780082286 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.171G>T (p.Gly57=) rs1722350740 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.174C>G (p.Pro58=) rs1317163956 0.00001
NM_147127.5(EVC2):c.180G>C (p.Leu60=) rs746557117 0.00001
NM_147127.5(EVC2):c.1827G>A (p.Val609=) rs758243772 0.00001
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr) rs765933739 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1881C>T (p.His627=) rs1181526421 0.00001
NM_147127.5(EVC2):c.1897C>T (p.Leu633=) rs755775994 0.00001
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407 0.00001
NM_147127.5(EVC2):c.1908C>T (p.Asp636=) rs753259274 0.00001
NM_147127.5(EVC2):c.1923A>G (p.Leu641=) rs1193715900 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.1947C>G (p.Val649=) rs748436461 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.195G>A (p.Gly65=) rs1351285832 0.00001
NM_147127.5(EVC2):c.1974T>C (p.Asn658=) rs146401544 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly) rs754390055 0.00001
NM_147127.5(EVC2):c.2026A>C (p.Arg676=) rs922218808 0.00001
NM_147127.5(EVC2):c.2043A>G (p.Gln681=) rs774467445 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2088C>G (p.Ala696=) rs1460893645 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.2109C>T (p.Ala703=) rs1290218024 0.00001
NM_147127.5(EVC2):c.2169G>A (p.Glu723=) rs1300347009 0.00001
NM_147127.5(EVC2):c.216G>A (p.Glu72=) rs1478999602 0.00001
NM_147127.5(EVC2):c.2172G>T (p.Leu724=) rs546009991 0.00001
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952 0.00001
NM_147127.5(EVC2):c.219C>T (p.Ser73=) rs1423567913 0.00001
NM_147127.5(EVC2):c.2226G>A (p.Ser742=) rs1225003407 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2265G>A (p.Gln755=) rs962222538 0.00001
NM_147127.5(EVC2):c.2274C>T (p.Ala758=) rs1195932614 0.00001
NM_147127.5(EVC2):c.228+10G>T rs1478451043 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.229-7T>G rs763121941 0.00001
NM_147127.5(EVC2):c.2292C>G (p.Leu764=) rs200598574 0.00001
NM_147127.5(EVC2):c.2364C>T (p.Ala788=) rs575617564 0.00001
NM_147127.5(EVC2):c.2376G>A (p.Glu792=) rs752095410 0.00001
NM_147127.5(EVC2):c.2379G>A (p.Gly793=) rs984357172 0.00001
NM_147127.5(EVC2):c.2391C>T (p.Asp797=) rs920334676 0.00001
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) rs1282621867 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.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) rs1715453232 0.00001
NM_147127.5(EVC2):c.2607C>G (p.Pro869=) rs752513992 0.00001
NM_147127.5(EVC2):c.2649G>A (p.Ala883=) rs751714104 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.2685C>T (p.Ala895=) rs771623926 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.2832T>C (p.Val944=) rs1380334833 0.00001
NM_147127.5(EVC2):c.284-10T>C rs1192584069 0.00001
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu) rs1228531350 0.00001
NM_147127.5(EVC2):c.2925G>A (p.Ala975=) rs760612784 0.00001
NM_147127.5(EVC2):c.2937C>T (p.Thr979=) rs750126669 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.2995C>T (p.Leu999=) rs745415485 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=) rs751382770 0.00001
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=) rs775309745 0.00001
NM_147127.5(EVC2):c.3057+13G>T rs770915834 0.00001
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=) rs1284265777 0.00001
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=) rs987312090 0.00001
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=) rs777020546 0.00001
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=) rs777724107 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138 0.00001
NM_147127.5(EVC2):c.3219C>T (p.Val1073=) rs776929675 0.00001
NM_147127.5(EVC2):c.3264T>C (p.His1088=) rs756868538 0.00001
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=) rs754317285 0.00001
NM_147127.5(EVC2):c.3273-7A>T rs1382818953 0.00001
NM_147127.5(EVC2):c.3273-8C>T rs756556239 0.00001
NM_147127.5(EVC2):c.327C>G (p.Val109=) rs1721335332 0.00001
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=) rs746688755 0.00001
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=) rs1451776773 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.3361-4G>T rs1378260553 0.00001
NM_147127.5(EVC2):c.3361-5T>C rs374025466 0.00001
NM_147127.5(EVC2):c.3361-7C>G rs772860972 0.00001
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=) rs1461295651 0.00001
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=) rs778492108 0.00001
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=) rs757807439 0.00001
NM_147127.5(EVC2):c.33G>A (p.Thr11=) rs1202476781 0.00001
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867 0.00001
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=) rs1321179195 0.00001
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=) rs1291370512 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.3523_3527dup (p.Gln1179fs) rs1560126707 0.00001
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=) rs770872108 0.00001
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3557+7G>C rs748684933 0.00001
NM_147127.5(EVC2):c.3557+9C>T rs928653922 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.3609G>C (p.Leu1203=) rs754595798 0.00001
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=) rs374425966 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=) rs962774281 0.00001
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=) rs770129558 0.00001
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=) rs767740349 0.00001
NM_147127.5(EVC2):c.372T>C (p.Ala124=) rs753895375 0.00001
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=) rs775355661 0.00001
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=) rs1032044767 0.00001
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258 0.00001
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379 0.00001
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=) rs371771308 0.00001
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro) rs746578489 0.00001
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=) rs953355815 0.00001
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=) rs1277969148 0.00001
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760 0.00001
NM_147127.5(EVC2):c.40C>T (p.Leu14=) rs1722366826 0.00001
NM_147127.5(EVC2):c.411G>A (p.Lys137=) rs762375976 0.00001
NM_147127.5(EVC2):c.429G>A (p.Glu143=) rs754435299 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.45C>T (p.Ala15=) rs1285560156 0.00001
NM_147127.5(EVC2):c.498A>G (p.Val166=) rs369509893 0.00001
NM_147127.5(EVC2):c.520-7G>T rs1177228956 0.00001
NM_147127.5(EVC2):c.534T>C (p.Ser178=) rs1720948331 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.591A>G (p.Ser197=) rs1720942772 0.00001
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908 0.00001
NM_147127.5(EVC2):c.612C>T (p.Leu204=) rs1317049169 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.630T>A (p.Ala210=) rs1386228779 0.00001
NM_147127.5(EVC2):c.636C>T (p.Leu212=) rs768639624 0.00001
NM_147127.5(EVC2):c.639C>T (p.Thr213=) rs1323570343 0.00001
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter) rs1720937470 0.00001
NM_147127.5(EVC2):c.681G>A (p.Gln227=) rs997848448 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.707-5C>T rs781300676 0.00001
NM_147127.5(EVC2):c.707-8C>G rs746187089 0.00001
NM_147127.5(EVC2):c.741G>A (p.Thr247=) rs772821703 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303 0.00001
NM_147127.5(EVC2):c.78G>A (p.Gly26=) rs1472845952 0.00001
NM_147127.5(EVC2):c.798C>G (p.Thr266=) rs1217997624 0.00001
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) rs942590430 0.00001
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg) rs771493745 0.00001
NM_147127.5(EVC2):c.855A>G (p.Ala285=) rs1277622681 0.00001
NM_147127.5(EVC2):c.870+9C>T rs749270873 0.00001
NM_147127.5(EVC2):c.871-5C>T rs745871266 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_147127.5(EVC2):c.900A>G (p.Ala300=) rs1049760300 0.00001
NM_147127.5(EVC2):c.918C>T (p.Phe306=) rs1382381005 0.00001
NM_147127.5(EVC2):c.921C>T (p.Leu307=) rs1243167455 0.00001
NM_147127.5(EVC2):c.9C>T (p.Pro3=) rs573858756 0.00001
NM_153717.3(EVC):c.100C>T (p.Leu34=) rs1577297567 0.00001
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter) rs1729663828 0.00001
NM_153717.3(EVC):c.1089G>T (p.Leu363=) rs773566770 0.00001
NM_153717.3(EVC):c.1098+9G>A rs1729682283 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00001
NM_153717.3(EVC):c.1125G>A (p.Arg375=) rs372787652 0.00001
NM_153717.3(EVC):c.1149G>A (p.Glu383=) rs1577439692 0.00001
NM_153717.3(EVC):c.117C>T (p.Gly39=) rs1424931005 0.00001
NM_153717.3(EVC):c.1188G>A (p.Arg396=) rs367659093 0.00001
NM_153717.3(EVC):c.1236G>A (p.Lys412=) rs1730618149 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.1315+7C>T rs1252318929 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.1323C>T (p.Val441=) rs201393812 0.00001
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter) rs753152908 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_153717.3(EVC):c.1461C>T (p.Leu487=) rs1414243707 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1479C>G (p.Val493=) rs751325286 0.00001
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) rs1460597472 0.00001
NM_153717.3(EVC):c.1560C>T (p.Cys520=) rs764798059 0.00001
NM_153717.3(EVC):c.1563+8G>C rs896046510 0.00001
NM_153717.3(EVC):c.1564-7G>A rs201739032 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1647C>T (p.Leu549=) rs756674302 0.00001
NM_153717.3(EVC):c.1650C>T (p.Pro550=) rs1187336928 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1698C>T (p.Ala566=) rs911132556 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1764G>A (p.Glu588=) rs1736003433 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.1777-8G>A rs760016211 0.00001
NM_153717.3(EVC):c.1794T>C (p.Cys598=) rs1162334289 0.00001
NM_153717.3(EVC):c.1806C>T (p.Ser602=) rs749141466 0.00001
NM_153717.3(EVC):c.1836C>T (p.His612=) rs1318231575 0.00001
NM_153717.3(EVC):c.1839G>A (p.Glu613=) rs1419257094 0.00001
NM_153717.3(EVC):c.1845C>A (p.Thr615=) rs1398493743 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1886+10G>A rs1194224970 0.00001
NM_153717.3(EVC):c.1911G>T (p.Gly637=) rs746048526 0.00001
NM_153717.3(EVC):c.1924T>C (p.Leu642=) rs1458268098 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.1989G>C (p.Arg663=) rs1289387183 0.00001
NM_153717.3(EVC):c.2007C>T (p.His669=) rs1309166734 0.00001
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) rs774949132 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2040G>A (p.Leu680=) rs1490178041 0.00001
NM_153717.3(EVC):c.2058G>A (p.Gln686=) rs747533747 0.00001
NM_153717.3(EVC):c.2070G>A (p.Glu690=) rs1288478366 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2088C>T (p.Leu696=) rs761661473 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2098-5C>T rs747808287 0.00001
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.216T>C (p.Asn72=) rs776973612 0.00001
NM_153717.3(EVC):c.2181C>T (p.Ala727=) rs759398050 0.00001
NM_153717.3(EVC):c.2184G>A (p.Glu728=) rs1387569961 0.00001
NM_153717.3(EVC):c.2226C>T (p.Cys742=) rs1174341100 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2250G>A (p.Val750=) rs1577624232 0.00001
NM_153717.3(EVC):c.2304+7A>G rs1714452682 0.00001
NM_153717.3(EVC):c.2313G>A (p.Leu771=) rs756905795 0.00001
NM_153717.3(EVC):c.234A>G (p.Glu78=) rs754706204 0.00001
NM_153717.3(EVC):c.2358C>G (p.Val786=) rs895641001 0.00001
NM_153717.3(EVC):c.2365C>T (p.Leu789=) rs1448746006 0.00001
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629 0.00001
NM_153717.3(EVC):c.2406G>A (p.Glu802=) rs747188003 0.00001
NM_153717.3(EVC):c.2430G>A (p.Gln810=) rs370999882 0.00001
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) rs374752679 0.00001
NM_153717.3(EVC):c.2450-7G>T rs769527486 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2562-5C>G rs747812027 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2625C>T (p.His875=) rs764729655 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.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.2782+9C>T rs768005359 0.00001
NM_153717.3(EVC):c.2783-18T>G rs544186339 0.00001
NM_153717.3(EVC):c.2783-8C>T rs905232607 0.00001
NM_153717.3(EVC):c.2790C>T (p.Pro930=) rs747237758 0.00001
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.2949G>A (p.Lys983=) rs760920720 0.00001
NM_153717.3(EVC):c.300+10G>C rs765963247 0.00001
NM_153717.3(EVC):c.301-13C>T rs1478477072 0.00001
NM_153717.3(EVC):c.301-5C>T rs1162511331 0.00001
NM_153717.3(EVC):c.303A>G (p.Glu101=) rs1001609281 0.00001
NM_153717.3(EVC):c.30C>T (p.Ser10=) rs1250304907 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.343C>T (p.Leu115=) rs755273705 0.00001
NM_153717.3(EVC):c.375G>A (p.Gln125=) rs951334006 0.00001
NM_153717.3(EVC):c.384+9C>T rs1726415422 0.00001
NM_153717.3(EVC):c.385-10G>A rs766423757 0.00001
NM_153717.3(EVC):c.385-5C>T rs897738878 0.00001
NM_153717.3(EVC):c.447A>G (p.Pro149=) rs143250379 0.00001
NM_153717.3(EVC):c.450C>T (p.His150=) rs760527698 0.00001
NM_153717.3(EVC):c.456G>A (p.Pro152=) rs776773987 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.525A>G (p.Ser175=) rs369785566 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.582G>A (p.Arg194=) rs200101865 0.00001
NM_153717.3(EVC):c.617+10G>T rs1175798148 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.624C>T (p.Asp208=) rs187457187 0.00001
NM_153717.3(EVC):c.773dup (p.Tyr258Ter) rs748201094 0.00001
NM_153717.3(EVC):c.79C>T (p.Leu27=) rs1723000600 0.00001
NM_153717.3(EVC):c.801+9T>C rs775191328 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.858G>A (p.Ser286=) rs752988350 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.876G>A (p.Glu292=) rs902304992 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NM_153717.3(EVC):c.885C>T (p.Thr295=) rs1481146042 0.00001
NM_153717.3(EVC):c.888G>T (p.Leu296=) rs998975965 0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) rs1560323242 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153717.3(EVC):c.930A>C (p.Leu310=) rs776792609 0.00001
NM_153717.3(EVC):c.940-9A>C rs1241925243 0.00001
NM_153717.3(EVC):c.99G>A (p.Leu33=) rs1723007488 0.00001
NM_173660.5(DOK7):c.100+18G>A rs1361843879 0.00001
NM_173660.5(DOK7):c.1056C>T (p.Leu352=) rs751252312 0.00001
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro) rs931160069 0.00001
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu) rs757019137 0.00001
NM_173660.5(DOK7):c.1092G>T (p.Arg364=) rs767282152 0.00001
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala) rs556239795 0.00001
NM_173660.5(DOK7):c.109C>T (p.Leu37=) rs1283794146 0.00001
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly) rs375795223 0.00001
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro) rs760412846 0.00001
NM_173660.5(DOK7):c.1158C>T (p.Cys386=) rs770365337 0.00001
NM_173660.5(DOK7):c.1191G>C (p.Val397=) rs781489489 0.00001
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys) rs746536929 0.00001
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly) rs1027188166 0.00001
NM_173660.5(DOK7):c.1227C>T (p.Arg409=) rs762828158 0.00001
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly) rs547633164 0.00001
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile) rs1392647950 0.00001
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg) rs756360879 0.00001
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp) rs2020433 0.00001
NM_173660.5(DOK7):c.12G>A (p.Ala4=) rs1202693776 0.00001
NM_173660.5(DOK7):c.1347G>A (p.Thr449=) rs776624533 0.00001
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln) rs777057956 0.00001
NM_173660.5(DOK7):c.1360C>T (p.Leu454=) rs1231920444 0.00001
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg) rs753317302 0.00001
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg) rs898026035 0.00001
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys) rs745941308 0.00001
NM_173660.5(DOK7):c.1401T>C (p.Pro467=) rs764419050 0.00001
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser) rs764872565 0.00001
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu) rs535473251 0.00001
NM_173660.5(DOK7):c.1443C>T (p.His481=) rs749462644 0.00001
NM_173660.5(DOK7):c.1446G>A (p.Ala482=) rs773592493 0.00001
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu) rs761289689 0.00001
NM_173660.5(DOK7):c.1452A>G (p.Pro484=) rs1462346774 0.00001
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu) rs773679215 0.00001
NM_173660.5(DOK7):c.1482C>T (p.Val494=) rs771501211 0.00001
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter) rs1219587536 0.00001
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg) rs1189551686 0.00001
NM_173660.5(DOK7):c.151C>A (p.Leu51Met) rs761336523 0.00001
NM_173660.5(DOK7):c.193C>T (p.Leu65=) rs546630800 0.00001
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys) rs1024410823 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu) rs376659660 0.00001
NM_173660.5(DOK7):c.386C>T (p.Ala129Val) rs1158650422 0.00001
NM_173660.5(DOK7):c.408T>C (p.Asp136=) rs1219485664 0.00001
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile) rs747942116 0.00001
NM_173660.5(DOK7):c.415G>A (p.Val139Ile) rs571769859 0.00001
NM_173660.5(DOK7):c.429C>T (p.Asp143=) rs747023250 0.00001
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser) rs1727094027 0.00001
NM_173660.5(DOK7):c.438G>C (p.Pro146=) rs776760690 0.00001
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr) rs1362167631 0.00001
NM_173660.5(DOK7):c.460C>G (p.Leu154Val) rs775014794 0.00001
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp) rs753436594 0.00001
NM_173660.5(DOK7):c.476G>A (p.Arg159His) rs1485585052 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser) rs142756576 0.00001
NM_173660.5(DOK7):c.495C>T (p.Ser165=) rs1405222108 0.00001
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) rs781227659 0.00001
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln) rs1726073976 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys) rs1388813398 0.00001
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn) rs760505816 0.00001
NM_173660.5(DOK7):c.579C>T (p.Ser193=) rs766358840 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_173660.5(DOK7):c.598G>A (p.Val200Ile) rs1388192187 0.00001
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln) rs1339181692 0.00001
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro) rs553985062 0.00001
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser) rs1301546614 0.00001
NM_173660.5(DOK7):c.652+5G>A rs772918388 0.00001
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala) rs956613882 0.00001
NM_173660.5(DOK7):c.663C>G (p.Pro221=) rs914998338 0.00001
NM_173660.5(DOK7):c.666G>A (p.Pro222=) rs756895721 0.00001
NM_173660.5(DOK7):c.675G>A (p.Ser225=) rs780065823 0.00001
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala) rs1447016347 0.00001
NM_173660.5(DOK7):c.691G>A (p.Val231Met) rs369297851 0.00001
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg) rs1023898774 0.00001
NM_173660.5(DOK7):c.759G>A (p.Arg253=) rs759824901 0.00001
NM_173660.5(DOK7):c.762G>A (p.Pro254=) rs763623892 0.00001
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly) rs750004938 0.00001
NM_173660.5(DOK7):c.772+9G>A rs778823411 0.00001
NM_173660.5(DOK7):c.849A>G (p.Ala283=) rs756234763 0.00001
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile) rs767303929 0.00001
NM_173660.5(DOK7):c.945A>C (p.Ser315=) rs757723197 0.00001
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly) rs898373845 0.00001
NC_000001.10:g.(?_100316589)_(100483381_?)del
NC_000001.10:g.(?_100316589)_(100488042_?)del
NC_000001.10:g.(?_100316599)_(100488032_?)dup
NC_000001.10:g.(?_100436083)_(100477099_?)del
NC_000001.10:g.(?_100436083)_(100480986_?)del
NC_000001.10:g.(?_100459083)_(100459307_?)del
NC_000001.10:g.(?_100472580)_(100472722_?)del
NC_000001.10:g.(?_100472580)_(100477099_?)del
NC_000001.10:g.(?_145414782)_(145610584_?)del
NC_000001.10:g.(?_145414782)_(145610584_?)dup
NC_000001.10:g.(?_145507647)_(145509231_?)del
NC_000001.10:g.(?_209961765)_(209965792_?)del
NC_000001.10:g.(?_209974565)_(209974778_?)del
NC_000001.10:g.(?_209974565)_(209979435_?)del
NC_000001.11:g.(?_100007014)_(100011553_?)del
NC_000002.11:g.(?_175612832)_(175619162_?)del
NC_000002.11:g.(?_175612842)_(175629600_?)dup
NC_000002.11:g.(?_175612852)_(175629122_?)del
NC_000002.11:g.(?_233390906)_(233410446_?)dup
NC_000002.11:g.(?_233390926)_(233400022_?)del
NC_000002.11:g.(?_233396141)_(233398358_?)del
NC_000002.11:g.(?_58386900)_(58390229_?)dup
NC_000002.11:g.(?_58386900)_(58393029_?)dup
NC_000002.11:g.(?_58386900)_(58459267_?)del
NC_000002.11:g.(?_58386900)_(58468448_?)dup
NC_000002.11:g.(?_58425719)_(58433394_?)del
NC_000002.11:g.(?_58459169)_(58468448_?)del
NC_000002.11:g.(?_58468333)_(58468448_?)del
NC_000002.12:g.(?_174747592)_(174754414_?)del
NC_000002.12:g.(?_58159755)_(58165884_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)dup
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
NC_000002.12:g.58232113del
NC_000003.11:g.(?_10070342)_(10074666_?)del
NC_000003.11:g.(?_10070342)_(10094191_?)del
NC_000003.11:g.(?_10070342)_(10140634_?)del
NC_000003.11:g.(?_10070342)_(10191719_?)del
NC_000003.11:g.(?_10074510)_(10085282_?)del
NC_000003.11:g.(?_10080953)_(10085558_?)del
NC_000003.11:g.(?_10084233)_(10085286_?)del
NC_000003.11:g.(?_10084233)_(10085558_?)dup
NC_000003.11:g.(?_10091048)_(10140634_?)del
NC_000003.11:g.(?_10105466)_(10107188_?)del
NC_000003.11:g.(?_10108063)_(10114567_?)del
NC_000003.11:g.(?_10127476)_(10136978_?)del
NC_000003.11:g.(?_10127486)_(10140634_?)dup
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NC_000003.11:g.(?_10130113)_(10133956_?)del
NC_000003.11:g.(?_10132039)_(10132856_?)del
NC_000003.11:g.(?_10138000)_(10140634_?)del
NC_000003.11:g.(?_69058768)_(69058997_?)dup
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10043874_?)dup
NC_000003.12:g.(?_10028648)_(10046733_?)del
NC_000003.12:g.(?_10064723)_(10146642_?)del
NC_000003.12:g.(?_10090282)_(10098950_?)dup
NC_000004.11:g.(?_2200251)_(5710240_?)del
NC_000004.11:g.(?_3465093)_(3495238_?)dup
NC_000004.11:g.(?_3465103)_(3465298_?)del
NC_000004.11:g.(?_3465103)_(3465298_?)dup
NC_000004.11:g.(?_3465103)_(3495228_?)dup
NC_000004.11:g.(?_3494466)_(3495228_?)del
NC_000004.11:g.(?_3494787)_3495019dup
NC_000004.11:g.(?_5563146)_(5711294_?)del
NC_000004.11:g.(?_5564565)_(5578191_?)del
NC_000004.11:g.(?_5564565)_(5586587_?)del
NC_000004.11:g.(?_5565510)_(5811251_?)del
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5576402)_(5576509_?)del
NC_000004.11:g.(?_5617139)_(5812774_?)del
NC_000004.11:g.(?_5630276)_(5633769_?)del
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5642221)_(5642585_?)del
NC_000004.11:g.(?_5682977)_(5735172_?)del
NC_000004.11:g.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.11:g.(?_5710003)_(5750043_?)del
NC_000004.11:g.(?_5711924)_(5817031_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5720955)_(5721120_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5749725)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5758099_?)del
NC_000004.11:g.(?_5754553)_(5785501_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000004.11:g.(?_5785269)_(5812774_?)del
NC_000004.11:g.(?_5798739)_(5798969_?)del
NC_000004.11:g.(?_5803667)_(5806578_?)del
NC_000004.11:g.(?_5809918)_(5811348_?)del
NC_000004.12:g.(?_3463366)_(3493511_?)del
NC_000004.12:g.(?_3473386)_(3489816_?)del
NC_000004.12:g.(?_3485519)_(3493521_?)del
NC_000004.12:g.(?_3485529)_(3485668_?)del
NC_000004.12:g.(?_3485529)_(3493511_?)del
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000004.12:g.5719249_5719252del
NC_000004.12:g.5729307del
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128301372)_(128312805_?)dup
NC_000005.10:g.(?_128318139)_(128319011_?)dup
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.10:g.(?_128328686)_(128330705_?)del
NC_000005.10:g.(?_128350858)_(128351015_?)del
NC_000005.10:g.(?_128408654)_(128530713_?)del
NC_000005.10:g.(?_128408664)_(128530703_?)del
NC_000005.10:g.(?_128530575)_(128530713_?)del
NC_000005.10:g.(?_128537340)_(128537613_?)del
NC_000005.10:g.(?_36877164)_(37064912_?)del
NC_000005.10:g.(?_36953616)_(37017182_?)del
NC_000005.10:g.(?_37038582)_(37038758_?)del
NC_000005.10:g.(?_37044327)_(37049321_?)del
NC_000005.10:g.(?_37045443)_(37048675_?)del
NC_000005.9:g.(?_127595147)_(127873296_?)del
NC_000005.9:g.(?_127622400)_(127645101_?)dup
NC_000005.9:g.(?_127666245)_(127668746_?)del
NC_000005.9:g.(?_127666331)_(127799615_?)del
NC_000005.9:g.(?_127685029)_(127686707_?)del
NC_000005.9:g.(?_127689859)_(127693060_?)del
NC_000005.9:g.(?_127712503)_(127716032_?)del
NC_000005.9:g.(?_36953718)_(37027534_?)del
NC_000005.9:g.(?_36953799)_(37064994_?)del
NC_000005.9:g.(?_36958186)_(36962396_?)del
NC_000005.9:g.(?_36970958)_(37371079_?)del
NC_000005.9:g.(?_37002744)_(37008845_?)del
NC_000005.9:g.(?_37002744)_(37046321_?)dup
NC_000005.9:g.(?_37036461)_(37036609_?)del
NC_000005.9:g.(?_37045525)_(37048797_?)del
NC_000005.9:g.(?_37057268)_(37061140_?)del
NC_000006.11:g.(?_35420323)_(35424150_?)dup
NC_000006.11:g.(?_35420323)_(35434122_?)dup
NC_000006.11:g.(?_35423579)_(35424285_?)del
NC_000006.11:g.(?_35423579)_35424285del
NC_000006.11:g.(?_35428309)_(35434122_?)dup
NC_000006.11:g.(?_35430556)_(35434122_?)del
NC_000006.12:g.(?_57186982)_(57222324_?)del
NC_000007.13:g.(?_19156336)_(19157207_?)del
NC_000007.14:g.(?_19116693)_(19117341_?)del
NC_000008.10:g.(?_117574515)_(117878968_?)dup
NC_000008.10:g.(?_117859739)_(117866727_?)dup
NC_000008.10:g.(?_37595441)_(38961219_?)del
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000008.10:g.(?_38314854)_(38314964_?)del
NC_000008.11:g.(?_116857267)_(116863259_?)del
NC_000008.11:g.(?_38424489)_(38461126_?)del
NC_000009.11:g.(?_113006437)_(113563268_?)dup
NC_000009.11:g.(?_113431185)_(113459766_?)dup
NC_000009.11:g.(?_113431185)_(113550138_?)del
NC_000009.11:g.(?_113431213)_(113441760_?)del
NC_000009.11:g.(?_113444934)_(113449568_?)del
NC_000009.11:g.(?_113449377)_(113457830_?)del
NC_000009.11:g.(?_113457663)_(113524508_?)dup
NC_000009.11:g.(?_113496521)_(113524498_?)dup
NC_000009.11:g.(?_113509901)_(113538955_?)del
NC_000009.11:g.(?_137534034)_(139440238_?)dup
NC_000009.11:g.(?_138392557)_(141016451_?)del
NC_000009.11:g.(?_138683633)_(139440248_?)del
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.(?_139404165)_(139405277_?)del
NC_000009.11:g.(?_139438456)_(139440238_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34458984)_(35809462_?)del
NC_000009.11:g.(?_34458984)_(35809462_?)dup
NC_000009.11:g.(?_34459004)_(36276941_?)del
NC_000009.11:g.(?_35072710)_(35079521_?)dup
NC_000009.11:g.(?_35683146)_(36277049_?)dup
NC_000009.11:g.(?_97861619)_(97869538_?)del
NC_000009.11:g.(?_97863979)_(97934439_?)del
NC_000009.11:g.(?_97863983)_(98270649_?)dup
NC_000009.11:g.(?_97863989)_(98079991_?)dup
NC_000009.11:g.(?_97873735)_(97897794_?)del
NC_000009.11:g.(?_97876901)_(97879682_?)del
NC_000009.11:g.(?_97876901)_(97934439_?)dup
NC_000009.11:g.(?_97897618)_(97912379_?)del
NC_000009.11:g.(?_98002921)_(98011661_?)del
NC_000009.11:g.(?_98002921)_(98079991_?)dup
NC_000009.11:g.(?_98009704)_(98009808_?)del
NC_000009.11:g.(?_98079798)_(98279100_?)del
NC_000009.12:g.(?_110668885)_(110801008_?)del
NC_000009.12:g.(?_110734231)_(110734395_?)del
NC_000009.12:g.(?_136496051)_(136523999_?)del
NC_000009.12:g.(?_136496061)_(136523989_?)del
NC_000009.12:g.(?_136496071)_(136523980_?)del
NC_000009.12:g.(?_35076714)_(35077111_?)del
NC_000009.12:g.(?_35683149)_(35689827_?)dup
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000009.12:g.(?_95107056)_(95107279_?)del
NC_000009.12:g.(?_95114619)_(95114720_?)del
NC_000009.12:g.(?_95135336)_(95135512_?)del
NC_000009.12:g.(?_95135336)_(95249379_?)del
NC_000009.12:g.(?_95149913)_(95172157_?)del
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NC_000009.12:g.(?_95240639)_(95240753_?)del
NC_000009.12:g.35079242del
NC_000010.10:g.(?_111860412)_(112839579_?)dup
NC_000011.10:g.(?_47437955)_(47438951_?)del
NC_000011.10:g.(?_47437965)_(47438941_?)del
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NC_000017.10:g.(?_59937147)_(59937278_?)del
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NC_000017.11:g.(?_36537082)_(36538636_?)del
NC_000017.11:g.(?_58692625)_(58696869_?)dup
NC_000017.11:g.(?_58692625)_(58710000_?)del
NC_000017.11:g.(?_58692625)_(58710000_?)dup
NC_000017.11:g.(?_58692625)_(58734222_?)del
NC_000017.11:g.(?_58692634)_(58692798_?)del
NC_000017.11:g.(?_58692634)_(58692798_?)dup
NC_000017.11:g.(?_58692634)_(58703339_?)del
NC_000017.11:g.(?_58692634)_(58710000_?)del
NC_000017.11:g.(?_58692634)_(58710000_?)dup
NC_000017.11:g.(?_58692634)_(58734232_?)del
NC_000017.11:g.(?_58692638)_(58734228_?)del
NC_000017.11:g.(?_58696687)_(58696865_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)dup
NC_000017.11:g.(?_58703186)_(58734222_?)del
NC_000017.11:g.(?_58703186)_(58734232_?)del
NC_000017.11:g.(?_58703196)_(58709990_?)del
NC_000017.11:g.(?_58709849)_(58710000_?)del
NC_000017.11:g.(?_58709849)_(58734222_?)del
NC_000017.11:g.(?_58709849)_(58734232_?)del
NC_000017.11:g.(?_58709849)_(58734232_?)dup
NC_000017.11:g.(?_58709853)_(58709996_?)del
NC_000017.11:g.(?_58720736)_(58720822_?)dup
NC_000017.11:g.(?_58720736)_(58734222_?)del
NC_000017.11:g.(?_58720736)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734232_?)dup
NC_000017.11:g.(?_58720736)_(58734352_?)del
NC_000017.11:g.(?_58720740)_(58720818_?)del
NC_000017.11:g.(?_58720740)_(58724106_?)del
NC_000017.11:g.(?_58720746)_(58734342_?)del
NC_000017.11:g.(?_58732474)_(58734222_?)del
NC_000017.11:g.(?_58732474)_(58734232_?)del
NC_000017.11:g.(?_58734108)_(58734232_?)del
NC_000017.11:g.(?_58734112)_(58734228_?)del
NC_000017.11:g.(?_61683286)_(61693522_?)del
NC_000017.11:g.(?_61683286)_(61716073_?)del
NC_000017.11:g.(?_61683286)_(61808767_?)dup
NC_000017.11:g.(?_61683290)_(61684146_?)del
NC_000017.11:g.(?_61683296)_(61684150_?)dup
NC_000017.11:g.(?_61683296)_(61693522_?)dup
NC_000017.11:g.(?_61683296)_(61716073_?)del
NC_000017.11:g.(?_61685826)_(61686175_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)dup
NC_000017.11:g.(?_61715941)_(61808767_?)del
NC_000017.11:g.(?_61743003)_(61781015_?)dup
NC_000017.11:g.(?_61743007)_(61808763_?)del
NC_000017.11:g.(?_61744422)_(61744601_?)del
NC_000017.11:g.(?_61776391)_(61784434_?)del
NC_000017.11:g.(?_61776391)_(61808767_?)del
NC_000017.11:g.(?_61776395)_(61801480_?)del
NC_000017.11:g.(?_61776395)_(61861545_?)del
NC_000017.11:g.(?_61780251)_(61784434_?)del
NC_000017.11:g.(?_61780255)_(61781011_?)del
NC_000017.11:g.(?_61780255)_(61784430_?)del
NC_000017.11:g.(?_61793587)_(61799309_?)del
NC_000017.11:g.(?_61799090)_(61801484_?)del
NC_000017.11:g.(?_61799090)_(61861539_?)dup
NC_000017.11:g.(?_61808457)_(61808767_?)del
NC_000017.11:g.(?_61847091)_(61847230_?)del
NC_000017.11:g.(?_61847091)_(61849266_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)dup
NC_000017.11:g.(?_61847101)_(61849256_?)del
NC_000017.11:g.(?_61857048)_(61857241_?)del
NC_000017.11:g.(?_61857048)_(61861539_?)del
NC_000017.11:g.(?_61857048)_(61861549_?)del
NC_000017.11:g.(?_61857052)_(61861545_?)del
NC_000017.11:g.(?_61859786)_(61861549_?)del
NC_000017.11:g.(?_61861437)_(61861549_?)dup
NC_000017.11:g.(?_61861441)_(61861545_?)del
NC_000019.10:g.(?_42370701)_(42370831_?)del
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NC_000020.10:g.(?_50400804)_(50401243_?)del
NC_000020.10:g.(?_50400804)_(50418947_?)del
NC_000020.11:g.(?_51802259)_(51802428_?)del
NC_000022.10:g.(?_41074407)_(41489122_?)del
NC_000022.10:g.(?_41553153)_(41554524_?)del
NC_000022.11:g.(?_41131368)_(41140277_?)del
NC_000022.11:g.(?_41151813)_(41152370_?)del
NC_000022.11:g.(?_41154975)_(41164150_?)del
NC_000023.10:g.(?_14861689)_(14877476_?)dup
NC_000023.10:g.(?_14861689)_(14891184_?)del
NC_000023.10:g.(?_14861689)_(15870650_?)dup
NC_000023.10:g.(?_14875974)_(14891184_?)del
NC_000023.10:g.(?_47058202)_(47074328_?)del
NC_000023.10:g.(?_47058202)_(47074328_?)dup
NC_000023.10:g.(?_53222149)_(55057617_?)del
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_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_53430478)_(53442138_?)del
NC_000023.10:g.(?_53435973)_(53442138_?)del
NC_000023.10:g.(?_53448825)_(53449569_?)del
NC_000023.10:g.(?_53449431)_(53449549_?)del
NC_000023.10:g.(?_71681834)_(71681968_?)del
NC_000023.10:g.(?_71681834)_(71715138_?)dup
NC_000023.11:g.(?_14843557)_(14873062_?)dup
NC_000023.11:g.(?_14857852)_(14859344_?)del
NM_000079.4(CHRNA1):c.1002+10G>C
NM_000079.4(CHRNA1):c.1002+14C>G
NM_000079.4(CHRNA1):c.1002+14C>T
NM_000079.4(CHRNA1):c.1002+5del
NM_000079.4(CHRNA1):c.1002G>A (p.Lys334=)
NM_000079.4(CHRNA1):c.1003-10T>A rs2105344468
NM_000079.4(CHRNA1):c.1003-12T>A rs771405347
NM_000079.4(CHRNA1):c.1003-12_1003-8del rs1251304590
NM_000079.4(CHRNA1):c.1003-3T>C rs1683789512
NM_000079.4(CHRNA1):c.1003-6T>C
NM_000079.4(CHRNA1):c.1003-8T>C rs1683789605
NM_000079.4(CHRNA1):c.1003-8dup
NM_000079.4(CHRNA1):c.1003-9T>A rs769523120
NM_000079.4(CHRNA1):c.1011C>T (p.Ile337=)
NM_000079.4(CHRNA1):c.1012G>C (p.Asp338His)
NM_000079.4(CHRNA1):c.1016C>T (p.Thr339Ile)
NM_000079.4(CHRNA1):c.1021C>T (p.Pro341Ser) rs2105344415
NM_000079.4(CHRNA1):c.103T>G (p.Tyr35Asp) rs1558914914
NM_000079.4(CHRNA1):c.1040C>G (p.Ser347Cys) rs1683788656
NM_000079.4(CHRNA1):c.1047G>A (p.Met349Ile) rs1683788450
NM_000079.4(CHRNA1):c.1048A>C (p.Lys350Gln) rs1683788396
NM_000079.4(CHRNA1):c.1053A>C (p.Arg351Ser) rs2105344397
NM_000079.4(CHRNA1):c.1055C>T (p.Pro352Leu)
NM_000079.4(CHRNA1):c.1058C>A (p.Ser353Tyr) rs1574002549
NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)
NM_000079.4(CHRNA1):c.1071A>G (p.Gln357=)
NM_000079.4(CHRNA1):c.1079del (p.Lys360fs) rs768863116
NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs)
NM_000079.4(CHRNA1):c.1088C>G (p.Thr363Arg) rs146771663
NM_000079.4(CHRNA1):c.1123C>T (p.Pro375Ser)
NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=)
NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)
NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)
NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe)
NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=) rs141280544
NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)
NM_000079.4(CHRNA1):c.1189G>A (p.Glu397Lys)
NM_000079.4(CHRNA1):c.118C>A (p.Arg40=) rs774423842
NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=) rs1683784412
NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr)
NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)
NM_000079.4(CHRNA1):c.1206C>T (p.Ile402=)
NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)
NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn) rs1291588996
NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys)
NM_000079.4(CHRNA1):c.1242+11T>A
NM_000079.4(CHRNA1):c.1242+17G>A
NM_000079.4(CHRNA1):c.1243-3C>T rs1574002055
NM_000079.4(CHRNA1):c.1243-7C>T
NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=)
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) rs17838545
NM_000079.4(CHRNA1):c.1248G>T (p.Ala416=)
NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)
NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=)
NM_000079.4(CHRNA1):c.1267G>A (p.Ala423Thr)
NM_000079.4(CHRNA1):c.1282C>A (p.His428Asn)
NM_000079.4(CHRNA1):c.1284C>T (p.His428=) rs1173467478
NM_000079.4(CHRNA1):c.1307T>C (p.Leu436Pro)
NM_000079.4(CHRNA1):c.1334T>A (p.Val445Glu) rs1304235259
NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp)
NM_000079.4(CHRNA1):c.1345C>T (p.Arg449Ter) rs1345496434
NM_000079.4(CHRNA1):c.1348C>T (p.Leu450Phe)
NM_000079.4(CHRNA1):c.136C>G (p.Arg46Gly)
NM_000079.4(CHRNA1):c.136C>T (p.Arg46Cys)
NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser) rs567683036
NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)
NM_000079.4(CHRNA1):c.14C>G (p.Pro5Arg)
NM_000079.4(CHRNA1):c.150G>T (p.Glu50Asp)
NM_000079.4(CHRNA1):c.155C>T (p.Thr52Ile)
NM_000079.4(CHRNA1):c.181A>C (p.Ile61Leu) rs1574011516
NM_000079.4(CHRNA1):c.189+4A>T rs1684049743
NM_000079.4(CHRNA1):c.189+7_189+8insCCT rs1348568801
NM_000079.4(CHRNA1):c.18C>T (p.Leu6=)
NM_000079.4(CHRNA1):c.190-12T>A
NM_000079.4(CHRNA1):c.190-13dup rs34695580
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.196G>A (p.Val66Ile)
NM_000079.4(CHRNA1):c.218A>C (p.Asn73Thr) rs141121555
NM_000079.4(CHRNA1):c.222del (p.Arg75fs)
NM_000079.4(CHRNA1):c.235-14G>A
NM_000079.4(CHRNA1):c.235-19T>C rs1287601157
NM_000079.4(CHRNA1):c.235-20C>T
NM_000079.4(CHRNA1):c.235-8G>T
NM_000079.4(CHRNA1):c.235-9dup rs1558913982
NM_000079.4(CHRNA1):c.23T>C (p.Leu8Pro)
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter) rs1684009556
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn) rs1684008469
NM_000079.4(CHRNA1):c.273C>G (p.Asp91Glu) rs1684008402
NM_000079.4(CHRNA1):c.274T>A (p.Tyr92Asn)
NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)
NM_000079.4(CHRNA1):c.279C>T (p.Gly93=) rs771749641
NM_000079.4(CHRNA1):c.280G>A (p.Gly94Ser) rs199470444
NM_000079.4(CHRNA1):c.283G>A (p.Val95Met) rs757698567
NM_000079.4(CHRNA1):c.284T>A (p.Val95Glu)
NM_000079.4(CHRNA1):c.292dup (p.Ile98fs) rs753250273
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.303T>C (p.Pro101=) rs2105350637
NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)
NM_000079.4(CHRNA1):c.320G>T (p.Arg107Leu) rs376844505
NM_000079.4(CHRNA1):c.344+14A>G rs1458805086
NM_000079.4(CHRNA1):c.344+15T>C
NM_000079.4(CHRNA1):c.344+17G>C
NM_000079.4(CHRNA1):c.345-19T>A rs572077048
NM_000079.4(CHRNA1):c.345-3T>C
NM_000079.4(CHRNA1):c.345-63_403del
NM_000079.4(CHRNA1):c.345-7A>G rs759145005
NM_000079.4(CHRNA1):c.345-7del
NM_000079.4(CHRNA1):c.348A>C (p.Ala116=)
NM_000079.4(CHRNA1):c.357C>G (p.Asp119Glu) rs773509048
NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr)
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter) rs1683929269
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
NM_000079.4(CHRNA1):c.383T>G (p.Val128Gly) rs1553469444
NM_000079.4(CHRNA1):c.387C>T (p.Leu129=)
NM_000079.4(CHRNA1):c.399T>A (p.Thr133=) rs1443518305
NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)
NM_000079.4(CHRNA1):c.416C>T (p.Thr139Ile)
NM_000079.4(CHRNA1):c.419C>T (p.Pro140Leu) rs1486937748
NM_000079.4(CHRNA1):c.424G>T (p.Ala142Ser)
NM_000079.4(CHRNA1):c.43+11G>A
NM_000079.4(CHRNA1):c.43+20G>T
NM_000079.4(CHRNA1):c.431T>C (p.Phe144Ser)
NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn)
NM_000079.4(CHRNA1):c.44-10G>T rs2105352253
NM_000079.4(CHRNA1):c.44-5C>G rs2105352241
NM_000079.4(CHRNA1):c.44-9C>A rs2105352249
NM_000079.4(CHRNA1):c.451A>G (p.Ile151Val)
NM_000079.4(CHRNA1):c.451A>T (p.Ile151Phe) rs560121316
NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)
NM_000079.4(CHRNA1):c.460C>T (p.His154Tyr) rs1161547381
NM_000079.4(CHRNA1):c.463T>C (p.Phe155Leu)
NM_000079.4(CHRNA1):c.484T>A (p.Cys162Ser)
NM_000079.4(CHRNA1):c.484T>C (p.Cys162Arg) rs773556274
NM_000079.4(CHRNA1):c.510C>G (p.Thr170=)
NM_000079.4(CHRNA1):c.516C>T (p.Asp172=)
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000079.4(CHRNA1):c.52G>A (p.Val18Ile) rs202221890
NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu) rs202221890
NM_000079.4(CHRNA1):c.530C>A (p.Ala177Asp) rs1487449348
NM_000079.4(CHRNA1):c.530C>T (p.Ala177Val)
NM_000079.4(CHRNA1):c.540+16A>C
NM_000079.4(CHRNA1):c.540+17T>A
NM_000079.4(CHRNA1):c.540G>A (p.Pro180=)
NM_000079.4(CHRNA1):c.541-12T>C rs1193318305
NM_000079.4(CHRNA1):c.541-13C>T
NM_000079.4(CHRNA1):c.541-17del
NM_000079.4(CHRNA1):c.548A>C (p.Asp183Ala) rs1444098674
NM_000079.4(CHRNA1):c.548A>T (p.Asp183Val) rs1444098674
NM_000079.4(CHRNA1):c.556G>C (p.Asp186His)
NM_000079.4(CHRNA1):c.556G>T (p.Asp186Tyr)
NM_000079.4(CHRNA1):c.561G>A (p.Leu187=)
NM_000079.4(CHRNA1):c.561G>C (p.Leu187=)
NM_000079.4(CHRNA1):c.562A>C (p.Ser188Arg) rs1683909326
NM_000079.4(CHRNA1):c.581G>A (p.Gly194Glu)
NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)
NM_000079.4(CHRNA1):c.591G>A (p.Val197=)
NM_000079.4(CHRNA1):c.600G>A (p.Glu200=) rs2105347898
NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp)
NM_000079.4(CHRNA1):c.639C>T (p.Cys213=) rs1574006599
NM_000079.4(CHRNA1):c.640C>T (p.Pro214Ser) rs1574006591
NM_000079.4(CHRNA1):c.648C>G (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.648C>T (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.653A>C (p.Tyr218Ser) rs1574006535
NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)
NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val)
NM_000079.4(CHRNA1):c.672C>T (p.His224=) rs1574006465
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His) rs137852809
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) rs137852809
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=) rs143252724
NM_000079.4(CHRNA1):c.708C>T (p.Val236=)
NM_000079.4(CHRNA1):c.70G>A (p.Glu24Lys)
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000079.4(CHRNA1):c.745A>C (p.Thr249Pro) rs1683900619
NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)
NM_000079.4(CHRNA1):c.746C>G (p.Thr249Ser) rs770040016
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.75C>T (p.Thr25=)
NM_000079.4(CHRNA1):c.769A>G (p.Thr257Ala) rs1558911687
NM_000079.4(CHRNA1):c.778+2T>A
NM_000079.4(CHRNA1):c.778+4G>T
NM_000079.4(CHRNA1):c.788T>C (p.Met263Thr)
NM_000079.4(CHRNA1):c.795G>A (p.Leu265=)
NM_000079.4(CHRNA1):c.7C>T (p.Pro3Ser) rs1286101751
NM_000079.4(CHRNA1):c.802T>C (p.Ser268Pro) rs1683819520
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.811C>A (p.Leu271Met)
NM_000079.4(CHRNA1):c.813G>C (p.Leu271=) rs374093236
NM_000079.4(CHRNA1):c.824T>C (p.Val275Ala) rs2105345399
NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser)
NM_000079.4(CHRNA1):c.828C>T (p.Phe276=) rs1683818752
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter) rs1208011631
NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg)
NM_000079.4(CHRNA1):c.874C>T (p.Pro292Ser)
NM_000079.4(CHRNA1):c.876C>A (p.Pro292=)
NM_000079.4(CHRNA1):c.878T>C (p.Leu293Ser) rs2105345351
NM_000079.4(CHRNA1):c.887A>G (p.Lys296Arg)
NM_000079.4(CHRNA1):c.893T>C (p.Met298Thr) rs1574003598
NM_000079.4(CHRNA1):c.901A>G (p.Thr301Ala) rs1683816643
NM_000079.4(CHRNA1):c.902C>A (p.Thr301Asn) rs2105345315
NM_000079.4(CHRNA1):c.905T>A (p.Met302Lys) rs2105345309
NM_000079.4(CHRNA1):c.923C>T (p.Ser308Phe) rs1553469062
NM_000079.4(CHRNA1):c.925A>C (p.Ile309Leu)
NM_000079.4(CHRNA1):c.943G>A (p.Val315Ile)
NM_000079.4(CHRNA1):c.954A>C (p.Thr318=)
NM_000079.4(CHRNA1):c.978T>A (p.His326Gln) rs1574003456
NM_000079.4(CHRNA1):c.984G>A (p.Met328Ile) rs2105345213
NM_000079.4(CHRNA1):c.989A>G (p.Asn330Ser)
NM_000079.4(CHRNA1):c.997C>G (p.Arg333Gly) rs374391312
NM_000079.4(CHRNA1):c.998G>A (p.Arg333Gln)
NM_000135.2(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.-1_2del (p.Met1del) rs2143732272
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val)
NM_000135.4(FANCA):c.1000C>T (p.Leu334=) rs1405549284
NM_000135.4(FANCA):c.1006+10G>C
NM_000135.4(FANCA):c.1006+10G>T rs762536802
NM_000135.4(FANCA):c.1006+11TG[3]
NM_000135.4(FANCA):c.1006+14G>C
NM_000135.4(FANCA):c.1006+19C>G
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1006+6C>A
NM_000135.4(FANCA):c.1006+6C>T
NM_000135.4(FANCA):c.1007-10C>A rs2040111171
NM_000135.4(FANCA):c.1007-10C>T rs2040111171
NM_000135.4(FANCA):c.1007-13T>G
NM_000135.4(FANCA):c.1007-16G>C
NM_000135.4(FANCA):c.1007-16_1007-15del
NM_000135.4(FANCA):c.1007-18_1007-15del
NM_000135.4(FANCA):c.1007-1G>A
NM_000135.4(FANCA):c.1007-20G>A
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1007-2dup rs2143534850
NM_000135.4(FANCA):c.1007-3C>A
NM_000135.4(FANCA):c.1007-5T>C
NM_000135.4(FANCA):c.1007-6C>G rs770125368
NM_000135.4(FANCA):c.1007-7C>T
NM_000135.4(FANCA):c.1007-9C>T
NM_000135.4(FANCA):c.1012G>C (p.Asp338His)
NM_000135.4(FANCA):c.1014T>C (p.Asp338=)
NM_000135.4(FANCA):c.1017T>C (p.Ala339=)
NM_000135.4(FANCA):c.1023G>A (p.Gln341=) rs2143534746
NM_000135.4(FANCA):c.1029G>A (p.Gln343=) rs779989777
NM_000135.4(FANCA):c.1029G>C (p.Gln343His)
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys) rs758168558
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs) rs2143534611
NM_000135.4(FANCA):c.1035G>A (p.Glu345=) rs1044759612
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.1041C>T (p.Ser347=)
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu) rs142620413
NM_000135.4(FANCA):c.1047G>T (p.Ala349=)
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1050G>A (p.Arg350=)
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala) rs1449343629
NM_000135.4(FANCA):c.1059T>A (p.Pro353=) rs563820871
NM_000135.4(FANCA):c.1062G>C (p.Leu354=)
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile)
NM_000135.4(FANCA):c.1065C>A (p.Leu355=)
NM_000135.4(FANCA):c.1065C>G (p.Leu355=)
NM_000135.4(FANCA):c.1065C>T (p.Leu355=) rs373366147
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser)
NM_000135.4(FANCA):c.1068C>A (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.1068C>T (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.106_108del (p.Asn36del) rs1598202748
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1071A>G (p.Ser357=) rs1249860808
NM_000135.4(FANCA):c.1072C>T (p.Leu358=) rs748337423
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1076A>G (p.Tyr359Cys)
NM_000135.4(FANCA):c.1079G>A (p.Arg360His)
NM_000135.4(FANCA):c.1080C>A (p.Arg360=)
NM_000135.4(FANCA):c.1080C>T (p.Arg360=)
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr)
NM_000135.4(FANCA):c.1083+14G>C rs2143534130
NM_000135.4(FANCA):c.1083+17T>C
NM_000135.4(FANCA):c.1083+18T>C
NM_000135.4(FANCA):c.1083+1G>A
NM_000135.4(FANCA):c.1083+20T>C
NM_000135.4(FANCA):c.1083+5G>A rs1412210234
NM_000135.4(FANCA):c.1083+8G>C
NM_000135.4(FANCA):c.1083+8del
NM_000135.4(FANCA):c.1083+9A>T rs1312747816
NM_000135.4(FANCA):c.1083G>A (p.Arg361=) rs2143534230
NM_000135.4(FANCA):c.1084-10T>C rs369884743
NM_000135.4(FANCA):c.1084-11T>G
NM_000135.4(FANCA):c.1084-13G>A rs2143531033
NM_000135.4(FANCA):c.1084-14T>C rs1267858023
NM_000135.4(FANCA):c.1084-16G>T
NM_000135.4(FANCA):c.1084-17G>A
NM_000135.4(FANCA):c.1084-19G>C
NM_000135.4(FANCA):c.1084-1G>A rs2040094761
NM_000135.4(FANCA):c.1084-5T>G
NM_000135.4(FANCA):c.1084-7del rs780878272
NM_000135.4(FANCA):c.1084-8T>G
NM_000135.4(FANCA):c.1084-9T>C
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val) rs2040094709
NM_000135.4(FANCA):c.1086C>T (p.Leu362=) rs2143530829
NM_000135.4(FANCA):c.1089T>C (p.Phe363=) rs2143530797
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.1096C>T (p.Leu366=)
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro) rs2143530711
NM_000135.4(FANCA):c.1098G>A (p.Leu366=)
NM_000135.4(FANCA):c.1098G>C (p.Leu366=)
NM_000135.4(FANCA):c.1098G>T (p.Leu366=) rs1598152908
NM_000135.4(FANCA):c.1101T>C (p.Ser367=)
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.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1119C>G (p.Gly373=)
NM_000135.4(FANCA):c.1122T>C (p.His374=) rs2143530454
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met) rs2040093515
NM_000135.4(FANCA):c.1123T>C (p.Leu375=) rs2040093515
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu) rs2040093330
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg) rs2143530391
NM_000135.4(FANCA):c.1135C>T (p.Leu379=) rs969577700
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala)
NM_000135.4(FANCA):c.1140A>G (p.Glu380=) rs2143530276
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer) rs2040092520
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.1146G>A (p.Gln382=) rs781015145
NM_000135.4(FANCA):c.1147del (p.Glu383fs) rs2040092247
NM_000135.4(FANCA):c.1149G>A (p.Glu383=)
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile) rs751071791
NM_000135.4(FANCA):c.1152T>G (p.Val384=)
NM_000135.4(FANCA):c.1153C>G (p.His385Asp)
NM_000135.4(FANCA):c.1154A>G (p.His385Arg)
NM_000135.4(FANCA):c.1155C>T (p.His385=)
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1161G>C (p.Gln387His)
NM_000135.4(FANCA):c.1167G>A (p.Val389=)
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile)
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr) rs151089298
NM_000135.4(FANCA):c.1170C>G (p.Leu390=) rs2143529917
NM_000135.4(FANCA):c.1170C>T (p.Leu390=)
NM_000135.4(FANCA):c.1173C>G (p.Ser391=) rs2040091412
NM_000135.4(FANCA):c.1173C>T (p.Ser391=) rs2040091412
NM_000135.4(FANCA):c.1179G>C (p.Val393=)
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr) rs202062504
NM_000135.4(FANCA):c.1185C>G (p.Ala395=) rs2143529838
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs) rs2143529729
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val)
NM_000135.4(FANCA):c.1186C>T (p.Leu396=)
NM_000135.4(FANCA):c.1188G>A (p.Leu396=)
NM_000135.4(FANCA):c.118dup (p.Ala40fs) rs2143724113
NM_000135.4(FANCA):c.1194C>G (p.Val398=) rs1158857420
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
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>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
NM_000135.4(FANCA):c.1202del (p.Pro401fs) rs2040090741
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val)
NM_000135.4(FANCA):c.1209G>T (p.Ala403=)
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met)
NM_000135.4(FANCA):c.1216C>T (p.Leu406=)
NM_000135.4(FANCA):c.1218G>A (p.Leu406=) rs2040090132
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu) rs764533094
NM_000135.4(FANCA):c.1221T>C (p.Leu407=) rs780963734
NM_000135.4(FANCA):c.1225+10del rs2143529499
NM_000135.4(FANCA):c.1225+13G>A rs201201281
NM_000135.4(FANCA):c.1225+13G>C rs201201281
NM_000135.4(FANCA):c.1225+15G>A
NM_000135.4(FANCA):c.1225+17G>A
NM_000135.4(FANCA):c.1225+17G>C
NM_000135.4(FANCA):c.1225+20C>A rs199534742
NM_000135.4(FANCA):c.1225+20C>G
NM_000135.4(FANCA):c.1225+20C>T rs199534742
NM_000135.4(FANCA):c.1225+20del rs2143529337
NM_000135.4(FANCA):c.1225+2T>A
NM_000135.4(FANCA):c.1225+2T>G
NM_000135.4(FANCA):c.1225+7_1225+15del rs2143529419
NM_000135.4(FANCA):c.1226-13G>A rs377159744
NM_000135.4(FANCA):c.1226-18G>C
NM_000135.4(FANCA):c.1226-1G>C rs1417768931
NM_000135.4(FANCA):c.1226-6A>C rs200953509
NM_000135.4(FANCA):c.1226-6A>G
NM_000135.4(FANCA):c.1227C>T (p.Asp409=) rs139944072
NM_000135.4(FANCA):c.123G>A (p.Gln41=)
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.1259del (p.Glu420fs)
NM_000135.4(FANCA):c.1266C>T (p.Cys422=)
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg)
NM_000135.4(FANCA):c.1269G>A (p.Gln423=)
NM_000135.4(FANCA):c.126A>G (p.Lys42=)
NM_000135.4(FANCA):c.1275C>T (p.Asp425=)
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile)
NM_000135.4(FANCA):c.1278C>T (p.Ser426=)
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.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly) rs772567344
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294C>T (p.Leu432=) rs1232228823
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1296G>A (p.Leu432=)
NM_000135.4(FANCA):c.1296G>C (p.Leu432=)
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala) rs1015816469
NM_000135.4(FANCA):c.129A>G (p.Leu43=) rs902594434
NM_000135.4(FANCA):c.12G>A (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.12G>T (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.1300G>A (p.Val434Met)
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1308G>C (p.Gln436His) rs1316078638
NM_000135.4(FANCA):c.1311A>G (p.Ala437=) rs2143525993
NM_000135.4(FANCA):c.1314A>C (p.Ala438=)
NM_000135.4(FANCA):c.1314A>T (p.Ala438=) rs2143525963
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter) rs2040073991
NM_000135.4(FANCA):c.1323C>A (p.Gly441=)
NM_000135.4(FANCA):c.1323C>T (p.Gly441=) rs1377621197
NM_000135.4(FANCA):c.1326C>G (p.Pro442=)
NM_000135.4(FANCA):c.1326C>T (p.Pro442=)
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.132G>A (p.Lys44=) rs200428379
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr) rs771047848
NM_000135.4(FANCA):c.1332G>T (p.Ala444=) rs377705748
NM_000135.4(FANCA):c.1335C>T (p.Phe445=)
NM_000135.4(FANCA):c.1336C>T (p.Leu446=)
NM_000135.4(FANCA):c.1338G>T (p.Leu446=)
NM_000135.4(FANCA):c.1339del (p.Ser447fs) rs2143525756
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1341A>G (p.Ser447=) rs895188167
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs) rs2143525701
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.1353G>A (p.Trp451Ter) rs2143525603
NM_000135.4(FANCA):c.1356C>T (p.Phe452=)
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg) rs139248966
NM_000135.4(FANCA):c.1359+10C>G rs34159559
NM_000135.4(FANCA):c.1359+12G>A
NM_000135.4(FANCA):c.1359+14del rs2143525386
NM_000135.4(FANCA):c.1359+16A>T rs200016746
NM_000135.4(FANCA):c.1359+18C>T
NM_000135.4(FANCA):c.1359+19G>A
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1359+20G>T
NM_000135.4(FANCA):c.1359+3A>G
NM_000135.4(FANCA):c.1359+4A>T rs35476732
NM_000135.4(FANCA):c.1359+7G>A rs749311482
NM_000135.4(FANCA):c.1359+8A>G
NM_000135.4(FANCA):c.1359+9C>A rs375487246
NM_000135.4(FANCA):c.1359+9C>T rs375487246
NM_000135.4(FANCA):c.1360-10C>T
NM_000135.4(FANCA):c.1360-13T>A
NM_000135.4(FANCA):c.1360-13TC[2] rs1598140813
NM_000135.4(FANCA):c.1360-17C>T
NM_000135.4(FANCA):c.1360-18G>C
NM_000135.4(FANCA):c.1360-2A>G
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1360-5C>T rs2143477318
NM_000135.4(FANCA):c.1360-64_1360del rs2143477254
NM_000135.4(FANCA):c.1360-8C>T rs1407800718
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr)
NM_000135.4(FANCA):c.1371G>A (p.Gly457=) rs369988875
NM_000135.4(FANCA):c.1374C>T (p.Ser458=)
NM_000135.4(FANCA):c.1378C>A (p.Arg460=) rs1438828232
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter) rs2041098068
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu) rs2041098068
NM_000135.4(FANCA):c.1380A>T (p.Arg460=)
NM_000135.4(FANCA):c.1383C>T (p.Gly461=)
NM_000135.4(FANCA):c.1386C>T (p.Tyr462=) rs2143477066
NM_000135.4(FANCA):c.1388A>G (p.His463Arg) rs2039847321
NM_000135.4(FANCA):c.1389T>C (p.His463=) rs756913331
NM_000135.4(FANCA):c.1392C>A (p.Gly464=) rs2143477008
NM_000135.4(FANCA):c.1392C>T (p.Gly464=) rs2143477008
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.1407C>T (p.Ala469=) rs1325894062
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.1410G>C (p.Leu470=) rs2143476857
NM_000135.4(FANCA):c.1413C>A (p.Val471=)
NM_000135.4(FANCA):c.1413C>G (p.Val471=) rs201561753
NM_000135.4(FANCA):c.1417del (p.Leu473fs) rs2039846326
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro)
NM_000135.4(FANCA):c.1425G>C (p.Thr475=)
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu)
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter) rs1432415523
NM_000135.4(FANCA):c.1434A>C (p.Ser478=)
NM_000135.4(FANCA):c.1434A>G (p.Ser478=)
NM_000135.4(FANCA):c.1437A>G (p.Glu479=) rs2143476678
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.1440C>A (p.Leu480=)
NM_000135.4(FANCA):c.1440C>G (p.Leu480=) rs1401053307
NM_000135.4(FANCA):c.1441G>A (p.Val481Met)
NM_000135.4(FANCA):c.1443G>A (p.Val481=)
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
NM_000135.4(FANCA):c.144G>A (p.Val48=) rs2143723828
NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr)
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.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser)
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) rs929925295
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1461G>C (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.1465C>T (p.Leu489=)
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463
NM_000135.4(FANCA):c.146G>A (p.Arg49His)
NM_000135.4(FANCA):c.1470+13C>G
NM_000135.4(FANCA):c.1470+17C>T rs2039843549
NM_000135.4(FANCA):c.1470+19C>T
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1470+6A>G
NM_000135.4(FANCA):c.1470+7A>C
NM_000135.4(FANCA):c.1470G>C (p.Gln490His) rs2039844218
NM_000135.4(FANCA):c.1471-10C>G rs368356709
NM_000135.4(FANCA):c.1471-12A>C
NM_000135.4(FANCA):c.1471-13TATC[3]
NM_000135.4(FANCA):c.1471-14C>G rs764284226
NM_000135.4(FANCA):c.1471-15G>A
NM_000135.4(FANCA):c.1471-20G>C rs374579239
NM_000135.4(FANCA):c.1471-20G>T
NM_000135.4(FANCA):c.1471-5C>T rs1035775047
NM_000135.4(FANCA):c.1471-7T>A
NM_000135.4(FANCA):c.1471-9T>C rs990892001
NM_000135.4(FANCA):c.1471-9_1471-6del rs1372488492
NM_000135.4(FANCA):c.1473G>T (p.Val491=)
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1476C>T (p.His492=)
NM_000135.4(FANCA):c.147C>G (p.Arg49=) rs762962148
NM_000135.4(FANCA):c.147C>T (p.Arg49=) rs762962148
NM_000135.4(FANCA):c.1482C>A (p.Leu494=)
NM_000135.4(FANCA):c.1482C>G (p.Leu494=) rs1431996844
NM_000135.4(FANCA):c.1482C>T (p.Leu494=)
NM_000135.4(FANCA):c.1483C>G (p.His495Asp)
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr)
NM_000135.4(FANCA):c.1491C>G (p.Pro497=)
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val) rs1486117630
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.1494G>A (p.Leu498=)
NM_000135.4(FANCA):c.1494G>C (p.Leu498=) rs747718961
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.1500_1501delinsTA (p.Gly501Ser) rs1598136992
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.4(FANCA):c.1503C>G (p.Gly501=)
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu)
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
NM_000135.4(FANCA):c.1509C>T (p.Tyr503=) rs1598136954
NM_000135.4(FANCA):c.150C>A (p.Leu50=)
NM_000135.4(FANCA):c.150C>G (p.Leu50=) rs1322931574
NM_000135.4(FANCA):c.150C>T (p.Leu50=) rs1322931574
NM_000135.4(FANCA):c.1511G>A (p.Arg504His) rs778045457
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu)
NM_000135.4(FANCA):c.1515C>T (p.Ser505=)
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.151C>T (p.Leu51=) rs1287320584
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu) rs755009951
NM_000135.4(FANCA):c.1530C>T (p.Tyr510=)
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
NM_000135.4(FANCA):c.153G>A (p.Leu51=) rs76278570
NM_000135.4(FANCA):c.153G>T (p.Leu51=)
NM_000135.4(FANCA):c.1542C>G (p.Ala514=) rs962460972
NM_000135.4(FANCA):c.1542C>T (p.Ala514=) rs962460972
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+10C>A rs774919321
NM_000135.4(FANCA):c.1566+10C>G
NM_000135.4(FANCA):c.1566+10C>T rs774919321
NM_000135.4(FANCA):c.1566+12C>G
NM_000135.4(FANCA):c.1566+12_1566+15del
NM_000135.4(FANCA):c.1566+14C>T
NM_000135.4(FANCA):c.1566+15C>T
NM_000135.4(FANCA):c.1566+16A>G
NM_000135.4(FANCA):c.1566+19C>A rs2143460183
NM_000135.4(FANCA):c.1566+1G>T
NM_000135.4(FANCA):c.1566+20C>G
NM_000135.4(FANCA):c.1566+2C>G
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1566+5G>A rs760087031
NM_000135.4(FANCA):c.1566+9T>G rs1045659143
NM_000135.4(FANCA):c.1567-11C>G
NM_000135.4(FANCA):c.1567-13G>A rs2143459544
NM_000135.4(FANCA):c.1567-13_1567-12del
NM_000135.4(FANCA):c.1567-15G>A
NM_000135.4(FANCA):c.1567-15_1567-10del rs2143459500
NM_000135.4(FANCA):c.1567-16T>C
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
NM_000135.4(FANCA):c.1570T>C (p.Ser524Pro)
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) rs753719658
NM_000135.4(FANCA):c.1572T>C (p.Ser524=)
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu) rs755925068
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
NM_000135.4(FANCA):c.1578A>G (p.Glu526=) rs2143459307
NM_000135.4(FANCA):c.1581C>T (p.Asn527=) rs1244511322
NM_000135.4(FANCA):c.1587A>G (p.Gly529=) rs1300063021
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.1590_1591del (p.Tyr531fs) rs2143459144
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter) rs762342197
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln) rs374490484
NM_000135.4(FANCA):c.1596G>A (p.Glu532=)
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr)
NM_000135.4(FANCA):c.159C>T (p.Ser53=)
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>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu)
NM_000135.4(FANCA):c.1608A>G (p.Ser536=)
NM_000135.4(FANCA):c.1614G>C (p.Gly538=)
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)
NM_000135.4(FANCA):c.1620T>C (p.Ile540=) rs1200375986
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys)
NM_000135.4(FANCA):c.1626+14A>G
NM_000135.4(FANCA):c.1626+16C>A rs1800333
NM_000135.4(FANCA):c.1626+17C>G
NM_000135.4(FANCA):c.1626+17C>T rs777619836
NM_000135.4(FANCA):c.1626+18C>T
NM_000135.4(FANCA):c.1626+20G>A
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.1626+8T>A rs746097975
NM_000135.4(FANCA):c.1626G>A (p.Glu542=) rs2143458860
NM_000135.4(FANCA):c.1627-10T>C
NM_000135.4(FANCA):c.1627-11A>G
NM_000135.4(FANCA):c.1627-15C>G
NM_000135.4(FANCA):c.1627-16C>G
NM_000135.4(FANCA):c.1627-17C>G
NM_000135.4(FANCA):c.1627-17C>T
NM_000135.4(FANCA):c.1627-19C>T rs2039645766
NM_000135.4(FANCA):c.1627-29_1627-8del rs2143433096
NM_000135.4(FANCA):c.1627-2A>G rs2143433058
NM_000135.4(FANCA):c.1627-4C>T
NM_000135.4(FANCA):c.1627-5A>G rs2039645024
NM_000135.4(FANCA):c.1627-8G>T
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.1629C>G (p.Pro543=) rs2143433021
NM_000135.4(FANCA):c.1630dup (p.His544fs) rs1598129626
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.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val)
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe)
NM_000135.4(FANCA):c.1647G>A (p.Gln549=)
NM_000135.4(FANCA):c.1647G>C (p.Gln549His)
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile) rs2039643856
NM_000135.4(FANCA):c.1659G>A (p.Lys553=)
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr) rs2143432789
NM_000135.4(FANCA):c.1662C>T (p.Ala554=) rs1235279691
NM_000135.4(FANCA):c.1665C>A (p.Ile555=) rs757932868
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met)
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn) rs1360481164
NM_000135.4(FANCA):c.1671G>A (p.Val557=)
NM_000135.4(FANCA):c.1677G>A (p.Glu559=)
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.1680T>C (p.His560=) rs2143432638
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.1683G>C (p.Thr561=)
NM_000135.4(FANCA):c.1686G>A (p.Gly562=) rs1457207387
NM_000135.4(FANCA):c.1686G>T (p.Gly562=)
NM_000135.4(FANCA):c.168C>T (p.Asp56=)
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.1698C>T (p.Val566=)
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala)
NM_000135.4(FANCA):c.16G>T (p.Val6Phe)
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser) rs775083851
NM_000135.4(FANCA):c.1701C>A (p.Thr567=) rs745466726
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu) rs778754162
NM_000135.4(FANCA):c.1704C>G (p.Val568=) rs914213734
NM_000135.4(FANCA):c.1704C>T (p.Val568=)
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+13G>T
NM_000135.4(FANCA):c.1715+14C>G
NM_000135.4(FANCA):c.1715+15C>A rs755381554
NM_000135.4(FANCA):c.1715+1G>A
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1715+4G>A
NM_000135.4(FANCA):c.1715+7T>C
NM_000135.4(FANCA):c.1715+8G>A rs1209332039
NM_000135.4(FANCA):c.1716-11C>G
NM_000135.4(FANCA):c.1716-13C>G
NM_000135.4(FANCA):c.1716-14T>C
NM_000135.4(FANCA):c.1716-16C>A rs942124383
NM_000135.4(FANCA):c.1716-16C>T rs942124383
NM_000135.4(FANCA):c.1716-18T>C
NM_000135.4(FANCA):c.1716-2A>G
NM_000135.4(FANCA):c.1716-6T>C rs2143424754
NM_000135.4(FANCA):c.1716-6_1716-5dup
NM_000135.4(FANCA):c.1716-7_1716-6del rs1252205510
NM_000135.4(FANCA):c.1716-9G>A
NM_000135.4(FANCA):c.1716-9G>T
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter) rs2041096125
NM_000135.4(FANCA):c.1722C>T (p.Phe574=)
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.1737C>A (p.Tyr579Ter)
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly) rs2143424514
NM_000135.4(FANCA):c.1743C>T (p.Ser581=) rs2039611416
NM_000135.4(FANCA):c.1746C>T (p.His582=)
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
NM_000135.4(FANCA):c.174T>C (p.Asn58=) rs2143723506
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val) rs145459403
NM_000135.4(FANCA):c.1752C>T (p.Leu584=) rs2039611137
NM_000135.4(FANCA):c.1755C>A (p.Pro585=)
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val)
NM_000135.4(FANCA):c.1758C>A (p.Ala586=) rs765437064
NM_000135.4(FANCA):c.1758C>T (p.Ala586=) rs765437064
NM_000135.4(FANCA):c.1764C>T (p.Leu588=)
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg) rs757637315
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1773A>C (p.Arg591=) rs2143423976
NM_000135.4(FANCA):c.1776+13C>G rs371272310
NM_000135.4(FANCA):c.1776+15C>G rs376346254
NM_000135.4(FANCA):c.1776+15C>T
NM_000135.4(FANCA):c.1776+16C>T
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.1776+8T>G rs2143423903
NM_000135.4(FANCA):c.1776+9G>A rs752878349
NM_000135.4(FANCA):c.1776+9G>C rs752878349
NM_000135.4(FANCA):c.1777-10C>A rs781605892
NM_000135.4(FANCA):c.1777-12C>G
NM_000135.4(FANCA):c.1777-13dup
NM_000135.4(FANCA):c.1777-15C>T rs371919426
NM_000135.4(FANCA):c.1777-17C>G
NM_000135.4(FANCA):c.1777-19G>A
NM_000135.4(FANCA):c.1777-19G>C
NM_000135.4(FANCA):c.1777-2A>G rs2143422990
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1777-7C>A
NM_000135.4(FANCA):c.1777-7C>T rs375148599
NM_000135.4(FANCA):c.1779C>A (p.Leu593=) rs1016801509
NM_000135.4(FANCA):c.1779C>T (p.Leu593=) rs1016801509
NM_000135.4(FANCA):c.177C>A (p.Ala59=) rs1439661268
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser) rs2039605850
NM_000135.4(FANCA):c.1782C>T (p.Pro594=)
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile) rs1391415619
NM_000135.4(FANCA):c.1788C>G (p.Val596=)
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser)
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu) rs2143422796
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.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1797C>A (p.Ser599=) rs2039605171
NM_000135.4(FANCA):c.1797C>T (p.Ser599=) rs2039605171
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.1806G>C (p.Ala602=) rs550064744
NM_000135.4(FANCA):c.1806G>T (p.Ala602=) rs550064744
NM_000135.4(FANCA):c.1809T>C (p.Phe603=) rs1336095406
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup) rs2039604604
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
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.1818T>C (p.Ser606=)
NM_000135.4(FANCA):c.1819C>T (p.Leu607=) rs2143422308
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs) rs2143422286
NM_000135.4(FANCA):c.1821G>C (p.Leu607=) rs2143422265
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter) rs2039604081
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) rs1598127082
NM_000135.4(FANCA):c.1826+11A>G
NM_000135.4(FANCA):c.1826+12C>G rs183513839
NM_000135.4(FANCA):c.1826+17A>G
NM_000135.4(FANCA):c.1826+17A>T
NM_000135.4(FANCA):c.1826+18G>T
NM_000135.4(FANCA):c.1826+20A>G
NM_000135.4(FANCA):c.1826+2T>A rs2039603867
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.1826+8G>A
NM_000135.4(FANCA):c.1826+9C>T
NM_000135.4(FANCA):c.1827-12C>G
NM_000135.4(FANCA):c.1827-12C>T
NM_000135.4(FANCA):c.1827-17G>C
NM_000135.4(FANCA):c.1827-20A>G
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.1827-3C>G rs772236777
NM_000135.4(FANCA):c.1827-4C>A rs775772634
NM_000135.4(FANCA):c.1827-4C>G rs775772634
NM_000135.4(FANCA):c.1827-5T>A rs1378971647
NM_000135.4(FANCA):c.1827-9G>A rs2143393607
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val) rs1598120974
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp)
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu) rs1433333223
NM_000135.4(FANCA):c.1839C>A (p.Ile613=) rs1598120925
NM_000135.4(FANCA):c.1839C>T (p.Ile613=) rs1598120925
NM_000135.4(FANCA):c.183G>A (p.Leu61=) rs1447656431
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser)
NM_000135.4(FANCA):c.1842C>T (p.Pro614=) rs769546891
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser) rs1567623107
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu)
NM_000135.4(FANCA):c.1845A>G (p.Pro615=) rs1490141721
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe)
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val)
NM_000135.4(FANCA):c.1849C>T (p.Leu617=) rs2143393232
NM_000135.4(FANCA):c.184C>G (p.Leu62Val) rs2041094921
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1851G>A (p.Leu617=)
NM_000135.4(FANCA):c.1851G>C (p.Leu617=) rs2143393205
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter) rs747994845
NM_000135.4(FANCA):c.1854C>T (p.Tyr618=) rs747994845
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr) rs2039480405
NM_000135.4(FANCA):c.1857C>A (p.Ser619=)
NM_000135.4(FANCA):c.1860C>G (p.Thr620=)
NM_000135.4(FANCA):c.1863C>T (p.Tyr621=)
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg)
NM_000135.4(FANCA):c.1869G>A (p.Gln623=)
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.1872C>T (p.Ala624=) rs571449307
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) rs139235751
NM_000135.4(FANCA):c.1875C>T (p.Cys625=)
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.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala) rs1567659053
NM_000135.4(FANCA):c.189+10A>G
NM_000135.4(FANCA):c.189+12C>T
NM_000135.4(FANCA):c.189+14G>A
NM_000135.4(FANCA):c.189+14G>T
NM_000135.4(FANCA):c.189+15G>C
NM_000135.4(FANCA):c.189+17G>T
NM_000135.4(FANCA):c.189+19C>T
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+20C>A
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.189+8G>A rs2143723236
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp)
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu)
NM_000135.4(FANCA):c.18C>A (p.Val6=)
NM_000135.4(FANCA):c.190-14G>A
NM_000135.4(FANCA):c.190-18T>C
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>G
NM_000135.4(FANCA):c.190-2_203del rs2143711687
NM_000135.4(FANCA):c.190-5T>C rs368486303
NM_000135.4(FANCA):c.190-7A>G
NM_000135.4(FANCA):c.190-7A>T rs994179410
NM_000135.4(FANCA):c.190-8G>C rs2143711952
NM_000135.4(FANCA):c.1900+10T>C rs1225612280
NM_000135.4(FANCA):c.1900+12G>A
NM_000135.4(FANCA):c.1900+13G>A
NM_000135.4(FANCA):c.1900+14C>T
NM_000135.4(FANCA):c.1900+15C>T
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1900+1del
NM_000135.4(FANCA):c.1900+20G>T
NM_000135.4(FANCA):c.1900+6T>C
NM_000135.4(FANCA):c.1900+7T>C rs377401016
NM_000135.4(FANCA):c.1900+8C>G
NM_000135.4(FANCA):c.1900+8C>T
NM_000135.4(FANCA):c.1901-13C>G
NM_000135.4(FANCA):c.1901-14C>A
NM_000135.4(FANCA):c.1901-17C>T rs373785724
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-3C>T
NM_000135.4(FANCA):c.1901-5C>G rs1060504375
NM_000135.4(FANCA):c.1901-7C>G rs1449605030
NM_000135.4(FANCA):c.1901-7C>T
NM_000135.4(FANCA):c.1901-7_1901-5del rs2143367972
NM_000135.4(FANCA):c.1901-8_1901-6del rs1263015757
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.1911G>A (p.Leu637=) rs914305609
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu)
NM_000135.4(FANCA):c.1920G>A (p.Arg640=) rs2039390557
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr) rs867961005
NM_000135.4(FANCA):c.1923A>C (p.Ala641=) rs2143367561
NM_000135.4(FANCA):c.1923A>G (p.Ala641=)
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp)
NM_000135.4(FANCA):c.1926A>G (p.Glu642=) rs2039390337
NM_000135.4(FANCA):c.192A>G (p.Val64=)
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.1932C>T (p.Asn644=) rs1598116392
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys)
NM_000135.4(FANCA):c.1935T>C (p.Ser645=) rs2143367365
NM_000135.4(FANCA):c.1935T>G (p.Ser645=) rs2143367365
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.1947C>T (p.Pro649=)
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln)
NM_000135.4(FANCA):c.1950G>A (p.Leu650=)
NM_000135.4(FANCA):c.1950G>T (p.Leu650=)
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
NM_000135.4(FANCA):c.1959C>A (p.Leu653=) rs368643963
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.1962A>C (p.Thr654=)
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr)
NM_000135.4(FANCA):c.1968A>C (p.Ala656=)
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys)
NM_000135.4(FANCA):c.1971G>T (p.Leu657=) rs1343452026
NM_000135.4(FANCA):c.1978C>T (p.Leu660=)
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp)
NM_000135.4(FANCA):c.1980G>T (p.Leu660=)
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val)
NM_000135.4(FANCA):c.1986C>A (p.Ala662=) rs568935135
NM_000135.4(FANCA):c.1986C>G (p.Ala662=) rs568935135
NM_000135.4(FANCA):c.1989C>T (p.Ser663=)
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg)
NM_000135.4(FANCA):c.1998C>T (p.Asp666=)
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.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1del (p.Met1fs)
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.2001C>T (p.Pro667=)
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.200del (p.Pro67fs)
NM_000135.4(FANCA):c.2010T>G (p.Arg670=)
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val)
NM_000135.4(FANCA):c.2014+10G>A
NM_000135.4(FANCA):c.2014+10G>T rs1567620967
NM_000135.4(FANCA):c.2014+11A>T
NM_000135.4(FANCA):c.2014+16_2014+27del
NM_000135.4(FANCA):c.2014+18C>T rs758580921
NM_000135.4(FANCA):c.2014+1G>A
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2014+1del rs2143366415
NM_000135.4(FANCA):c.2014+20C>G rs376320049
NM_000135.4(FANCA):c.2014+20C>T
NM_000135.4(FANCA):c.2014+5G>A
NM_000135.4(FANCA):c.2014+7A>G
NM_000135.4(FANCA):c.2015-16G>C rs2039337410
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2015-20_2015-17del
NM_000135.4(FANCA):c.2015-2A>C rs2143351760
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2015-4G>C
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2015-8C>G
NM_000135.4(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.2015-9C>T rs2143351892
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met)
NM_000135.4(FANCA):c.201A>C (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro) rs752701423
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) rs2143351554
NM_000135.4(FANCA):c.2028G>A (p.Gln676=) rs2039336156
NM_000135.4(FANCA):c.2028G>C (p.Gln676His) rs2039336156
NM_000135.4(FANCA):c.202C>T (p.Leu68=) rs767193138
NM_000135.4(FANCA):c.2034A>C (p.Ala678=) rs2143351424
NM_000135.4(FANCA):c.2034A>G (p.Ala678=) rs2143351424
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg)
NM_000135.4(FANCA):c.2043T>C (p.Ser681=)
NM_000135.4(FANCA):c.204G>A (p.Leu68=) rs759150554
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met)
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val) rs1284083461
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
NM_000135.4(FANCA):c.2052G>T (p.Leu684=) rs562025330
NM_000135.4(FANCA):c.2053A>C (p.Arg685=)
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs) rs2143351188
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile)
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)
NM_000135.4(FANCA):c.2062C>T (p.Leu688=)
NM_000135.4(FANCA):c.2064G>C (p.Leu688=) rs2143351022
NM_000135.4(FANCA):c.2067C>G (p.Gly689=) rs2143350973
NM_000135.4(FANCA):c.2070C>T (p.His690=) rs1422723344
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter) rs941660593
NM_000135.4(FANCA):c.2082C>T (p.Asp694=)
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.2091T>G (p.Val697=)
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.2106T>A (p.Ile702=)
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2109G>A (p.Gln703=) rs371458363
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met)
NM_000135.4(FANCA):c.2121C>T (p.Asn707=) rs544923702
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg)
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2127G>C (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile) rs2039331440
NM_000135.4(FANCA):c.2130A>G (p.Arg710=)
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser) rs2143350061
NM_000135.4(FANCA):c.2131C>T (p.Leu711=)
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro) rs2039331306
NM_000135.4(FANCA):c.2133G>A (p.Leu711=)
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.2143G>T (p.Glu715Ter) rs781436006
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val) rs2039330928
NM_000135.4(FANCA):c.2145A>G (p.Glu715=)
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr)
NM_000135.4(FANCA):c.2151+10G>A rs2039329782
NM_000135.4(FANCA):c.2151+11G>T
NM_000135.4(FANCA):c.2151+12G>T
NM_000135.4(FANCA):c.2151+16C>T
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2151+4G>A rs1598113342
NM_000135.4(FANCA):c.2151+4G>C
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC
NM_000135.4(FANCA):c.2151+7_2151+8inv
NM_000135.4(FANCA):c.2151+8T>G
NM_000135.4(FANCA):c.2151+9del rs1470258609
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2152-12G>A
NM_000135.4(FANCA):c.2152-15A>G
NM_000135.4(FANCA):c.2152-16A>T
NM_000135.4(FANCA):c.2152-19G>A
NM_000135.4(FANCA):c.2152-1G>A
NM_000135.4(FANCA):c.2152-5T>C
NM_000135.4(FANCA):c.2152-6C>T
NM_000135.4(FANCA):c.2152-6_2152-5del
NM_000135.4(FANCA):c.2152-8C>G rs1285658774
NM_000135.4(FANCA):c.2152-8C>T rs1285658774
NM_000135.4(FANCA):c.2160C>T (p.Asp720=) rs2143340191
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg)
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val) rs770314137
NM_000135.4(FANCA):c.2164C>T (p.Leu722=)
NM_000135.4(FANCA):c.2169G>A (p.Leu723=)
NM_000135.4(FANCA):c.216G>A (p.Leu72=)
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2172G>T (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
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.2178C>T (p.Phe726=)
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
NM_000135.4(FANCA):c.2187C>T (p.Asn729=) rs771833978
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe)
NM_000135.4(FANCA):c.2190G>C (p.Leu730=)
NM_000135.4(FANCA):c.2196T>A (p.Ala732=) rs2143339914
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr)
NM_000135.4(FANCA):c.21G>A (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.21G>C (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs) rs1394491958
NM_000135.4(FANCA):c.2202C>T (p.Ser734=)
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn)
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile)
NM_000135.4(FANCA):c.2205T>C (p.Ser735=) rs2143339774
NM_000135.4(FANCA):c.2208C>T (p.Val736=) rs755638734
NM_000135.4(FANCA):c.2211T>C (p.Ala737=)
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.2214C>G (p.Pro738=)
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg) rs45441106
NM_000135.4(FANCA):c.2217G>A (p.Pro739=)
NM_000135.4(FANCA):c.2217G>C (p.Pro739=) rs764163027
NM_000135.4(FANCA):c.221_222del (p.Leu74fs) rs2041026878
NM_000135.4(FANCA):c.2222+11G>A
NM_000135.4(FANCA):c.2222+11G>C
NM_000135.4(FANCA):c.2222+11G>T
NM_000135.4(FANCA):c.2222+13G>C rs2143339468
NM_000135.4(FANCA):c.2222+14C>A rs368973617
NM_000135.4(FANCA):c.2222+16G>C
NM_000135.4(FANCA):c.2222+16G>T
NM_000135.4(FANCA):c.2222+19C>A
NM_000135.4(FANCA):c.2222+1G>T rs775388912
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.2222+7dup
NM_000135.4(FANCA):c.2222+9G>A rs774316742
NM_000135.4(FANCA):c.2223-13G>T
NM_000135.4(FANCA):c.2223-17C>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.2223-6_2223-5del
NM_000135.4(FANCA):c.2223-7T>C
NM_000135.4(FANCA):c.2223-8C>G rs1598110961
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser)
NM_000135.4(FANCA):c.2232C>T (p.Pro744=)
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.4(FANCA):c.2242del (p.Leu748fs) rs2143336491
NM_000135.4(FANCA):c.2244C>G (p.Leu748=)
NM_000135.4(FANCA):c.2244del (p.Phe749fs) rs2143336461
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2250G>C (p.Val750=)
NM_000135.4(FANCA):c.2253G>A (p.Arg751=) rs1345505146
NM_000135.4(FANCA):c.2253dup (p.Thr752fs) rs2143336354
NM_000135.4(FANCA):c.2257A>G (p.Met753Val) rs757797015
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
NM_000135.4(FANCA):c.2267G>A (p.Arg756His)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2268T>G (p.Arg756=) rs2143336151
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu) rs2143711335
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser)
NM_000135.4(FANCA):c.2280A>G (p.Ala760=) rs1598110765
NM_000135.4(FANCA):c.2283G>A (p.Val761=)
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe)
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro)
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile)
NM_000135.4(FANCA):c.2289C>A (p.Thr763=) rs2143335900
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter) rs947786901
NM_000135.4(FANCA):c.2301G>A (p.Gln767=)
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe) rs917707717
NM_000135.4(FANCA):c.2307C>A (p.Leu769=) rs1226177820
NM_000135.4(FANCA):c.2307C>T (p.Leu769=)
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2316+13T>C rs2143335460
NM_000135.4(FANCA):c.2316+16A>G
NM_000135.4(FANCA):c.2316+16A>T rs779657463
NM_000135.4(FANCA):c.2316+17T>A
NM_000135.4(FANCA):c.2316+17T>C
NM_000135.4(FANCA):c.2316+18G>A
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.2317-10C>T
NM_000135.4(FANCA):c.2317-12T>A
NM_000135.4(FANCA):c.2317-13A>G
NM_000135.4(FANCA):c.2317-17C>A
NM_000135.4(FANCA):c.2317-19A>T
NM_000135.4(FANCA):c.2317-1G>A rs1230207719
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2317-20C>T
NM_000135.4(FANCA):c.2317-4G>A rs775272801
NM_000135.4(FANCA):c.2317-4G>C
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp) rs2143333930
NM_000135.4(FANCA):c.231G>A (p.Val77=)
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser)
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg) rs545765795
NM_000135.4(FANCA):c.2325C>T (p.Ser775=) rs545765795
NM_000135.4(FANCA):c.2331T>C (p.Ser777=) rs2143333727
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr) rs1242381795
NM_000135.4(FANCA):c.2334C>T (p.Ala778=) rs1308389715
NM_000135.4(FANCA):c.2337A>G (p.Pro779=)
NM_000135.4(FANCA):c.233_236del (p.Ile78fs) rs2041026343
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.2343G>T (p.Val781=)
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg) rs747315724
NM_000135.4(FANCA):c.2346G>T (p.Leu782=)
NM_000135.4(FANCA):c.2349G>C (p.Gly783=)
NM_000135.4(FANCA):c.234T>C (p.Ile78=) rs2143711235
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser)
NM_000135.4(FANCA):c.2361G>C (p.Leu787=) rs2143333278
NM_000135.4(FANCA):c.2364C>A (p.Ala788=) rs149754397
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.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.2370C>T (p.His790=) rs753818673
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val)
NM_000135.4(FANCA):c.2382C>T (p.Ser794=) rs1223394099
NM_000135.4(FANCA):c.2383A>C (p.Arg795=) rs767455904
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2391G>T (p.Ala797=)
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala) rs762439008
NM_000135.4(FANCA):c.2397A>G (p.Pro799=) rs2143332878
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
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.2403G>C (p.Val801=) rs969366978
NM_000135.4(FANCA):c.2403G>T (p.Val801=)
NM_000135.4(FANCA):c.2406T>C (p.Asp802=) rs2143332765
NM_000135.4(FANCA):c.2409G>C (p.Val803=) rs1598110129
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
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.2424T>A (p.Pro808=)
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val)
NM_000135.4(FANCA):c.2426_2427inv (p.Gly809Asp)
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.2430T>A (p.Ala810=)
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
NM_000135.4(FANCA):c.2439T>G (p.Pro813=) rs2143332287
NM_000135.4(FANCA):c.243C>T (p.Asp81=)
NM_000135.4(FANCA):c.2442C>T (p.Val814=)
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser)
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu)
NM_000135.4(FANCA):c.2445T>C (p.Pro815=) rs1489533103
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu)
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val)
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
NM_000135.4(FANCA):c.2454T>C (p.Phe818=) rs2143332088
NM_000135.4(FANCA):c.2455G>C (p.Asp819His)
NM_000135.4(FANCA):c.2457C>T (p.Asp819=) rs1216645940
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr) rs1459045387
NM_000135.4(FANCA):c.2463C>G (p.Leu821=) rs781019889
NM_000135.4(FANCA):c.2463C>T (p.Leu821=)
NM_000135.4(FANCA):c.2464C>T (p.Leu822=)
NM_000135.4(FANCA):c.2466G>A (p.Leu822=)
NM_000135.4(FANCA):c.2466G>T (p.Leu822=) rs2143331866
NM_000135.4(FANCA):c.2469C>A (p.Thr823=)
NM_000135.4(FANCA):c.2472T>C (p.Cys824=) rs2039261844
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met) rs765888048
NM_000135.4(FANCA):c.2482dup (p.Asp828fs) rs2143331597
NM_000135.4(FANCA):c.2484T>C (p.Asp828=)
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.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
NM_000135.4(FANCA):c.24C>T (p.Asn8=) rs76275444
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
NM_000135.4(FANCA):c.2504+10T>C rs770043372
NM_000135.4(FANCA):c.2504+11C>T
NM_000135.4(FANCA):c.2504+11_2504+12insCA
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2504+16A>C
NM_000135.4(FANCA):c.2504+16A>G
NM_000135.4(FANCA):c.2504+17C>T
NM_000135.4(FANCA):c.2504+18del
NM_000135.4(FANCA):c.2504+1G>C rs2039260545
NM_000135.4(FANCA):c.2504+7T>C rs1212871121
NM_000135.4(FANCA):c.2504+8C>A rs529177917
NM_000135.4(FANCA):c.2505-10C>G rs1271668667
NM_000135.4(FANCA):c.2505-10_2505-9del rs766900188
NM_000135.4(FANCA):c.2505-12T>G
NM_000135.4(FANCA):c.2505-15A>T
NM_000135.4(FANCA):c.2505-15_2505-13del rs1420343115
NM_000135.4(FANCA):c.2505-17A>G
NM_000135.4(FANCA):c.2505-1G>C rs1438990537
NM_000135.4(FANCA):c.2505-30_2505-10del rs1598106124
NM_000135.4(FANCA):c.2505-4T>C
NM_000135.4(FANCA):c.2505-4del
NM_000135.4(FANCA):c.2505-5T>C rs768436599
NM_000135.4(FANCA):c.2505-8G>A rs2143308956
NM_000135.4(FANCA):c.2505-8G>C rs2143308956
NM_000135.4(FANCA):c.2505-8G>T rs2143308956
NM_000135.4(FANCA):c.2505A>G (p.Lys835=) rs1555546563
NM_000135.4(FANCA):c.2508T>C (p.Phe836=)
NM_000135.4(FANCA):c.2514A>G (p.Thr838=)
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.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys)
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529C>T (p.Tyr843=) rs1247378731
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys)
NM_000135.4(FANCA):c.2532T>C (p.Ser844=) rs778591541
NM_000135.4(FANCA):c.2535C>G (p.Leu845=)
NM_000135.4(FANCA):c.2535C>T (p.Leu845=) rs1362752790
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr) rs2143711037
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr)
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr)
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly)
NM_000135.4(FANCA):c.2550C>T (p.Ser850=) rs755395838
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter) rs1406289451
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.2558G>A (p.Arg853Gln) rs753393669
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.255C>G (p.Ala85=)
NM_000135.4(FANCA):c.255C>T (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.2562T>C (p.Asp854=)
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
NM_000135.4(FANCA):c.2564del (p.Thr855fs) rs2143308216
NM_000135.4(FANCA):c.2571C>T (p.Cys857=)
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys)
NM_000135.4(FANCA):c.2580A>G (p.Leu860=) rs1852141936
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala)
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser) rs2039157272
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
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.2600del (p.Lys867fs) rs2039156731
NM_000135.4(FANCA):c.2601+12C>G
NM_000135.4(FANCA):c.2601+12_2601+13del
NM_000135.4(FANCA):c.2601+15T>A
NM_000135.4(FANCA):c.2601+15_2601+16del
NM_000135.4(FANCA):c.2601+18C>G
NM_000135.4(FANCA):c.2601+18C>T rs748995903
NM_000135.4(FANCA):c.2601+20A>G
NM_000135.4(FANCA):c.2601+5G>T
NM_000135.4(FANCA):c.2601+8C>A
NM_000135.4(FANCA):c.2601+8C>T rs775561931
NM_000135.4(FANCA):c.2601+9A>T rs771837383
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.2602-11C>G
NM_000135.4(FANCA):c.2602-11C>T
NM_000135.4(FANCA):c.2602-12T>A
NM_000135.4(FANCA):c.2602-12T>C
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-17G>A
NM_000135.4(FANCA):c.2602-17G>C
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>A rs17233225
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2602-1G>A rs747823528
NM_000135.4(FANCA):c.2602-1G>T rs747823528
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2602-3C>G rs2143289922
NM_000135.4(FANCA):c.2602-4T>C
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2613C>A (p.Leu871=) rs532032511
NM_000135.4(FANCA):c.2613C>G (p.Leu871=)
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
NM_000135.4(FANCA):c.261T>C (p.Ala87=)
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
NM_000135.4(FANCA):c.2625G>A (p.Leu875=)
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.2634G>A (p.Glu878=) rs2143289424
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
NM_000135.4(FANCA):c.2640A>T (p.Arg880=)
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
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.2652T>G (p.Ser884=)
NM_000135.4(FANCA):c.2655G>A (p.Glu885=)
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) rs1487360770
NM_000135.4(FANCA):c.2658G>A (p.Glu886=)
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.2664A>T (p.Val888=)
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2670C>T (p.Ser890=) rs1419813684
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
NM_000135.4(FANCA):c.2676C>A (p.Ser892=) rs756478412
NM_000135.4(FANCA):c.2676C>G (p.Ser892=) rs756478412
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter) rs2039077331
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>A (p.Leu896=) rs142393744
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.2700T>C (p.Ser900=) rs755783870
NM_000135.4(FANCA):c.2703A>G (p.Ala901=) rs2143288685
NM_000135.4(FANCA):c.2707dup (p.Trp903fs) rs1225564406
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) rs1354272260
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
NM_000135.4(FANCA):c.270T>C (p.Ser90=) rs1322323561
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter) rs2039076227
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg) rs776576487
NM_000135.4(FANCA):c.2712G>C (p.Gln904His)
NM_000135.4(FANCA):c.2717del (p.Ala906fs) rs2143288542
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val)
NM_000135.4(FANCA):c.2721C>G (p.Ala907=) rs775013707
NM_000135.4(FANCA):c.2721C>T (p.Ala907=)
NM_000135.4(FANCA):c.2727T>C (p.Ser909=)
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.2730C>G (p.Leu910=)
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) rs878853663
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.2736A>C (p.Thr912=)
NM_000135.4(FANCA):c.2739_2740del (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile)
NM_000135.4(FANCA):c.2745C>A (p.Thr915=) rs781543214
NM_000135.4(FANCA):c.2745C>T (p.Thr915=) rs781543214
NM_000135.4(FANCA):c.2749C>A (p.Arg917=)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln)
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.2763_2769del (p.Glu922fs) rs1555545421
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+11G>A rs1211560919
NM_000135.4(FANCA):c.2778+11G>T rs1211560919
NM_000135.4(FANCA):c.2778+13T>G
NM_000135.4(FANCA):c.2778+19_2778+101del rs1567614267
NM_000135.4(FANCA):c.2778+1G>C rs140180549
NM_000135.4(FANCA):c.2778+20_2778+22del rs778787539
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+3A>G rs757261567
NM_000135.4(FANCA):c.2778+51_2778+133del rs2143286378
NM_000135.4(FANCA):c.2778+7_2778+36del rs1253945933
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2778+9C>T rs2143287939
NM_000135.4(FANCA):c.2778C>T (p.His926=)
NM_000135.4(FANCA):c.2779-10T>C rs1434480162
NM_000135.4(FANCA):c.2779-11C>T rs185392597
NM_000135.4(FANCA):c.2779-12T>C
NM_000135.4(FANCA):c.2779-13CT[2] rs1567612434
NM_000135.4(FANCA):c.2779-14G>C
NM_000135.4(FANCA):c.2779-14G>T
NM_000135.4(FANCA):c.2779-16T>A
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG
NM_000135.4(FANCA):c.2779-18G>A
NM_000135.4(FANCA):c.2779-18G>C
NM_000135.4(FANCA):c.2779-19T>C
NM_000135.4(FANCA):c.2779-1G>T rs2143261385
NM_000135.4(FANCA):c.2779-20T>C rs758046281
NM_000135.4(FANCA):c.2779-20T>G
NM_000135.4(FANCA):c.2779-3C>T
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2779-8T>C
NM_000135.4(FANCA):c.2779-9C>T rs764825402
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn) rs2143261377
NM_000135.4(FANCA):c.2784T>G (p.Thr928=)
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.2797T>C (p.Leu933=) rs961319091
NM_000135.4(FANCA):c.279del (p.Phe93fs)
NM_000135.4(FANCA):c.27C>A (p.Ser9=)
NM_000135.4(FANCA):c.2803C>T (p.Leu935=) rs1598096992
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.2809C>G (p.Leu937Val)
NM_000135.4(FANCA):c.2809C>T (p.Leu937=) rs773381553
NM_000135.4(FANCA):c.280A>G (p.Ile94Val)
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln) rs376106733
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
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+10A>C
NM_000135.4(FANCA):c.283+12C>A
NM_000135.4(FANCA):c.283+12C>G rs2143710577
NM_000135.4(FANCA):c.283+15C>A
NM_000135.4(FANCA):c.283+15C>T
NM_000135.4(FANCA):c.283+16A>G
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+1_283+11del rs2143710613
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.283+2T>G
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.283+5G>A rs1598199184
NM_000135.4(FANCA):c.283+8A>G
NM_000135.4(FANCA):c.283+9T>A rs779593295
NM_000135.4(FANCA):c.283+9T>G rs779593295
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn)
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr)
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
NM_000135.4(FANCA):c.2832dup (p.Ala945fs) rs2143260759
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.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-10T>C rs1318685482
NM_000135.4(FANCA):c.284-11T>C
NM_000135.4(FANCA):c.284-1328_705del
NM_000135.4(FANCA):c.284-13T>C
NM_000135.4(FANCA):c.284-14G>T rs757531036
NM_000135.4(FANCA):c.284-15T>C
NM_000135.4(FANCA):c.284-19G>A
NM_000135.4(FANCA):c.284-19G>C
NM_000135.4(FANCA):c.284-1G>C rs781216924
NM_000135.4(FANCA):c.284-20G>T
NM_000135.4(FANCA):c.284-2A>C
NM_000135.4(FANCA):c.284-7G>A rs2143681344
NM_000135.4(FANCA):c.284-8T>C rs2143681363
NM_000135.4(FANCA):c.284-940_339del
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2841A>T (p.Ser947=) rs1555544202
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala)
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val) rs193172749
NM_000135.4(FANCA):c.2844T>C (p.Asp948=) rs2143260585
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile) rs2038967398
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+10G>C rs2143260317
NM_000135.4(FANCA):c.2852+17G>C
NM_000135.4(FANCA):c.2852+18C>G
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2852+3A>G rs2038966938
NM_000135.4(FANCA):c.2852+7G>A
NM_000135.4(FANCA):c.2852+7_2852+8del
NM_000135.4(FANCA):c.2853-10G>C rs1432760258
NM_000135.4(FANCA):c.2853-11T>C
NM_000135.4(FANCA):c.2853-14G>A
NM_000135.4(FANCA):c.2853-15T>C rs1252724124
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-16G>A
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.2853-4C>T rs1289126600
NM_000135.4(FANCA):c.2853-7G>A
NM_000135.4(FANCA):c.2853-9C>G
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.2859C>T (p.Asp953=) 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.2868G>A (p.Gln956=)
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2874G>C (p.Ala958=)
NM_000135.4(FANCA):c.2877C>A (p.Ile959=) rs369548782
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met)
NM_000135.4(FANCA):c.2877C>T (p.Ile959=)
NM_000135.4(FANCA):c.2878C>G (p.His960Asp)
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr) rs923046981
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala)
NM_000135.4(FANCA):c.2885A>T (p.His962Leu)
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
NM_000135.4(FANCA):c.2886C>T (p.His962=) rs1455455628
NM_000135.4(FANCA):c.2889T>C (p.Phe963=)
NM_000135.4(FANCA):c.2892C>A (p.Leu964=) rs2143225154
NM_000135.4(FANCA):c.2892C>T (p.Leu964=) rs2143225154
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala)
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
NM_000135.4(FANCA):c.2895T>C (p.Pro965=)
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys) rs1192724266
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter) rs1192724266
NM_000135.4(FANCA):c.2901C>G (p.Ser967=)
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2904G>C (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.291_295del (p.Leu98fs)
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu) rs756241886
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
NM_000135.4(FANCA):c.2928C>T (p.Asp976=) rs1389873954
NM_000135.4(FANCA):c.2929C>T (p.Leu977=)
NM_000135.4(FANCA):c.2931G>A (p.Leu977=)
NM_000135.4(FANCA):c.2931G>T (p.Leu977=)
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly)
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.2946C>A (p.Thr982=)
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) rs1598191053
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
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.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
NM_000135.4(FANCA):c.2962C>T (p.Leu988=) rs2143224238
NM_000135.4(FANCA):c.2964G>A (p.Leu988=) rs751495133
NM_000135.4(FANCA):c.2970T>C (p.Asp990=) rs2143224147
NM_000135.4(FANCA):c.2976C>G (p.His992Gln) rs527882851
NM_000135.4(FANCA):c.2976C>T (p.His992=)
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
NM_000135.4(FANCA):c.2981+11C>T
NM_000135.4(FANCA):c.2981+13C>T
NM_000135.4(FANCA):c.2981+14A>G
NM_000135.4(FANCA):c.2981+15C>G
NM_000135.4(FANCA):c.2981+18T>C
NM_000135.4(FANCA):c.2981+19A>G
NM_000135.4(FANCA):c.2981+3T>A
NM_000135.4(FANCA):c.2981+3T>C rs2038838887
NM_000135.4(FANCA):c.2981+8G>A
NM_000135.4(FANCA):c.2981+8G>C
NM_000135.4(FANCA):c.2981+8_2981+10del
NM_000135.4(FANCA):c.2981+9C>A rs2143223878
NM_000135.4(FANCA):c.2981+9C>G
NM_000135.4(FANCA):c.2981+9C>T
NM_000135.4(FANCA):c.2982-15G>T rs55718325
NM_000135.4(FANCA):c.2982-192A>C
NM_000135.4(FANCA):c.2982-19T>C
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2982-8C>T
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
NM_000135.4(FANCA):c.2985A>G (p.Ser995=) rs1598081370
NM_000135.4(FANCA):c.2985A>T (p.Ser995=) rs1598081370
NM_000135.4(FANCA):c.298G>C (p.Asp100His)
NM_000135.4(FANCA):c.2991T>C (p.Ser997=)
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.2997C>T (p.Asp999=) rs1393198725
NM_000135.4(FANCA):c.2T>G (p.Met1Arg) rs769479800
NM_000135.4(FANCA):c.3003A>T (p.Ser1001=) rs2038619241
NM_000135.4(FANCA):c.3009T>C (p.Asn1003=) rs1001303157
NM_000135.4(FANCA):c.3012T>A (p.Ser1004=)
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs) rs2143163813
NM_000135.4(FANCA):c.3021C>A (p.Val1007=) rs2143163779
NM_000135.4(FANCA):c.3021C>G (p.Val1007=)
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val)
NM_000135.4(FANCA):c.3027T>G (p.Gly1009=) rs2143163711
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val) rs767105291
NM_000135.4(FANCA):c.3036A>C (p.Thr1012=)
NM_000135.4(FANCA):c.3036A>G (p.Thr1012=) rs2038617235
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp) rs147661788
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn)
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr) rs762111755
NM_000135.4(FANCA):c.3057C>A (p.Ser1019=)
NM_000135.4(FANCA):c.3057C>T (p.Ser1019=)
NM_000135.4(FANCA):c.3058A>C (p.Arg1020=)
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr) rs777061373
NM_000135.4(FANCA):c.3061T>C (p.Leu1021=) rs2143163305
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp) rs891626452
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter) rs2143163267
NM_000135.4(FANCA):c.3066+10A>T rs2143163210
NM_000135.4(FANCA):c.3066+11G>A
NM_000135.4(FANCA):c.3066+12G>A
NM_000135.4(FANCA):c.3066+13_3066+75del
NM_000135.4(FANCA):c.3066+17C>T
NM_000135.4(FANCA):c.3066+19C>G
NM_000135.4(FANCA):c.3066+19C>T
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3066+1G>C
NM_000135.4(FANCA):c.3066+1G>T rs587783028
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.3067-10T>C rs1379021525
NM_000135.4(FANCA):c.3067-14C>G rs1227291634
NM_000135.4(FANCA):c.3067-15A>G
NM_000135.4(FANCA):c.3067-17A>G rs1598077091
NM_000135.4(FANCA):c.3067-20A>T
NM_000135.4(FANCA):c.3067-2A>G rs2143140176
NM_000135.4(FANCA):c.3067-3C>T
NM_000135.4(FANCA):c.3067-8T>C
NM_000135.4(FANCA):c.3067-9C>G rs1271317902
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly)
NM_000135.4(FANCA):c.306C>G (p.Ala102=)
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu)
NM_000135.4(FANCA):c.3075A>G (p.Val1025=) rs780769017
NM_000135.4(FANCA):c.3075A>T (p.Val1025=) rs780769017
NM_000135.4(FANCA):c.3081C>T (p.Asp1027=) rs751033993
NM_000135.4(FANCA):c.3082C>T (p.Leu1028=) rs1447648920
NM_000135.4(FANCA):c.3084G>A (p.Leu1028=) rs2038521694
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter) rs1270910813
NM_000135.4(FANCA):c.3096A>G (p.Gln1032=) rs764351074
NM_000135.4(FANCA):c.3099C>T (p.Asp1033=) rs139289675
NM_000135.4(FANCA):c.309A>C (p.Ser103=) rs1284727333
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val)
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=) rs1216824664
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala) rs771174892
NM_000135.4(FANCA):c.310A>C (p.Arg104=) rs2143680951
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs) rs2143139284
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp) rs1292002479
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
NM_000135.4(FANCA):c.3117C>G (p.Gly1039=) rs2143139529
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys) rs1057245679
NM_000135.4(FANCA):c.3120C>T (p.His1040=) rs1567603921
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser) rs769635187
NM_000135.4(FANCA):c.3123C>G (p.Thr1041=) rs978882053
NM_000135.4(FANCA):c.3123C>T (p.Thr1041=)
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser) rs1355177352
NM_000135.4(FANCA):c.3126T>A (p.Pro1042=)
NM_000135.4(FANCA):c.3126T>G (p.Pro1042=) rs2038519967
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.3135G>A (p.Glu1045=)
NM_000135.4(FANCA):c.313C>T (p.Leu105=)
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val) rs2143139226
NM_000135.4(FANCA):c.3144C>G (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala) rs954683462
NM_000135.4(FANCA):c.3150G>A (p.Glu1050=) rs2143139115
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp) rs2143139115
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs) rs2143139061
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3160A>C (p.Arg1054=)
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs) rs2143138748
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=) rs753063086
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
NM_000135.4(FANCA):c.3168C>G (p.Leu1056=) rs377633991
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter) rs373545111
NM_000135.4(FANCA):c.3169del (p.Gln1057fs) rs2143138814
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) rs964650941
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
NM_000135.4(FANCA):c.3177G>C (p.Leu1059=) rs2143138665
NM_000135.4(FANCA):c.3177G>T (p.Leu1059=) rs2143138665
NM_000135.4(FANCA):c.3180A>T (p.Thr1060=)
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg) rs142379991
NM_000135.4(FANCA):c.3186G>T (p.Gly1062=) rs2038517320
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser) rs1166286386
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys)
NM_000135.4(FANCA):c.318G>A (p.Gly106=)
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu) rs140124051
NM_000135.4(FANCA):c.3195G>A (p.Val1065=) rs2143138336
NM_000135.4(FANCA):c.3195G>C (p.Val1065=)
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly) rs1419279017
NM_000135.4(FANCA):c.319del (p.Val107fs) rs1411237340
NM_000135.4(FANCA):c.3201C>A (p.Ala1067=)
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly)
NM_000135.4(FANCA):c.3204C>T (p.Ser1068=)
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg) rs756620986
NM_000135.4(FANCA):c.3207T>C (p.Leu1069=) rs2143138181
NM_000135.4(FANCA):c.3211A>C (p.Arg1071=)
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs) rs2143138138
NM_000135.4(FANCA):c.3216G>A (p.Gln1072=) rs753298211
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His) rs753298211
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys)
NM_000135.4(FANCA):c.3219G>A (p.Arg1073=) rs755453758
NM_000135.4(FANCA):c.321T>C (p.Val107=) rs2143680806
NM_000135.4(FANCA):c.3222G>A (p.Glu1074=) rs575923160
NM_000135.4(FANCA):c.3225G>C (p.Leu1075=)
NM_000135.4(FANCA):c.3228A>G (p.Leu1076=) rs765285538
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr) rs776603588
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) rs764030196
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=)
NM_000135.4(FANCA):c.3239+10A>G
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3239+11C>T
NM_000135.4(FANCA):c.3239+12T>C
NM_000135.4(FANCA):c.3239+14C>T
NM_000135.4(FANCA):c.3239+15C>T
NM_000135.4(FANCA):c.3239+17C>A
NM_000135.4(FANCA):c.3239+18C>A rs781742623
NM_000135.4(FANCA):c.3239+1G>A rs2143137762
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239+7C>G rs775293779
NM_000135.4(FANCA):c.3239+8C>T rs2038514547
NM_000135.4(FANCA):c.323C>T (p.Pro108Leu)
NM_000135.4(FANCA):c.3240-12C>G
NM_000135.4(FANCA):c.3240-12C>T
NM_000135.4(FANCA):c.3240-16A>G
NM_000135.4(FANCA):c.3240-17C>A rs780439636
NM_000135.4(FANCA):c.3240-17C>T rs780439636
NM_000135.4(FANCA):c.3240-18A>T
NM_000135.4(FANCA):c.3240-1G>A rs2038478071
NM_000135.4(FANCA):c.3240-20A>G
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3240-8C>G rs2143128494
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=)
NM_000135.4(FANCA):c.3243C>A (p.Ile1081=) rs2143128420
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe) rs2038477938
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs) rs2143128346
NM_000135.4(FANCA):c.3246C>G (p.Leu1082=) rs753864057
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe) rs2143128365
NM_000135.4(FANCA):c.324C>A (p.Pro108=)
NM_000135.4(FANCA):c.324C>G (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu) rs752642945
NM_000135.4(FANCA):c.3252C>T (p.Arg1084=)
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg)
NM_000135.4(FANCA):c.3255G>A (p.Leu1085=) rs1485904394
NM_000135.4(FANCA):c.3255G>C (p.Leu1085=)
NM_000135.4(FANCA):c.3258T>C (p.Pro1086=)
NM_000135.4(FANCA):c.325G>A (p.Val109Met) rs772639206
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
NM_000135.4(FANCA):c.3261G>C (p.Ser1087=)
NM_000135.4(FANCA):c.3264T>C (p.Ser1088=) rs1167053992
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs) rs1035003476
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
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.3270_3271del (p.Cys1091fs) rs2143128062
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000135.4(FANCA):c.3273C>T (p.Cys1091=) rs1450151864
NM_000135.4(FANCA):c.3276C>T (p.Gly1092=)
NM_000135.4(FANCA):c.327G>C (p.Val109=)
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.3282C>T (p.Ser1094=) 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.3291A>G (p.Ala1097=) rs2143127816
NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly)
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
NM_000135.4(FANCA):c.3297G>A (p.Gln1099=) rs779268656
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His)
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val) rs2038475500
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile) rs771117949
NM_000135.4(FANCA):c.330T>C (p.Gly110=) rs2143680634
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr)
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=) rs1598074599
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=) rs749550737
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3318G>A (p.Glu1106=)
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His) rs1276452090
NM_000135.4(FANCA):c.3324C>T (p.Phe1108=) rs2143127434
NM_000135.4(FANCA):c.3327C>T (p.Phe1109=)
NM_000135.4(FANCA):c.3328del (p.His1110fs)
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln)
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val)
NM_000135.4(FANCA):c.3333G>A (p.Leu1111=)
NM_000135.4(FANCA):c.3336C>G (p.Val1112=) rs1249462859
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys) rs1236607168
NM_000135.4(FANCA):c.3342T>C (p.Ser1114=) rs2143127277
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000135.4(FANCA):c.3345G>A (p.Glu1115=)
NM_000135.4(FANCA):c.3348+11C>G rs367624518
NM_000135.4(FANCA):c.3348+13T>C
NM_000135.4(FANCA):c.3348+15T>G
NM_000135.4(FANCA):c.3348+19C>G
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3348+20G>A rs374602648
NM_000135.4(FANCA):c.3348+2T>G
NM_000135.4(FANCA):c.3348+4G>A rs1217286568
NM_000135.4(FANCA):c.3348+7G>C
NM_000135.4(FANCA):c.3348+8C>G rs571631071
NM_000135.4(FANCA):c.3348+8C>T rs571631071
NM_000135.4(FANCA):c.3348+9C>T rs2143127104
NM_000135.4(FANCA):c.3349-10T>C
NM_000135.4(FANCA):c.3349-11C>T
NM_000135.4(FANCA):c.3349-15T>C
NM_000135.4(FANCA):c.3349-18C>T
NM_000135.4(FANCA):c.3349-1G>C
NM_000135.4(FANCA):c.3349-2A>G rs2038409874
NM_000135.4(FANCA):c.3349-5dup
NM_000135.4(FANCA):c.3349-6_3349-5del rs2143109700
NM_000135.4(FANCA):c.3349-7T>C
NM_000135.4(FANCA):c.3349-8T>C rs2143109726
NM_000135.4(FANCA):c.3349-9C>T rs1463228706
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.3360C>T (p.Cys1120=) rs2143109489
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr)
NM_000135.4(FANCA):c.336C>G (p.Leu112=) rs774843944
NM_000135.4(FANCA):c.3372T>C (p.Gly1124=)
NM_000135.4(FANCA):c.3375C>G (p.Ala1125=)
NM_000135.4(FANCA):c.3376C>T (p.Leu1126=) rs2143109313
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro) rs2038408800
NM_000135.4(FANCA):c.3378G>A (p.Leu1126=)
NM_000135.4(FANCA):c.3378G>C (p.Leu1126=)
NM_000135.4(FANCA):c.3384G>A (p.Gln1128=) rs867468844
NM_000135.4(FANCA):c.3387C>T (p.Asp1129=) rs2143109171
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.3390C>T (p.Ile1130=) rs373168838
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3393T>A (p.Thr1131=)
NM_000135.4(FANCA):c.3393T>G (p.Thr1131=) rs2143109062
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)
NM_000135.4(FANCA):c.3396C>A (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>G (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>T (p.Ala1132=)
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3398del (p.His1133fs) rs2038407878
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3408+11C>T
NM_000135.4(FANCA):c.3408+18C>T
NM_000135.4(FANCA):c.3408+19C>T
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3408+6A>T rs1269046351
NM_000135.4(FANCA):c.3408+7T>A
NM_000135.4(FANCA):c.3408+7T>C
NM_000135.4(FANCA):c.3408+8G>A
NM_000135.4(FANCA):c.3408+9C>A
NM_000135.4(FANCA):c.3408+9C>T rs377702890
NM_000135.4(FANCA):c.3409-11C>T
NM_000135.4(FANCA):c.3409-14G>A
NM_000135.4(FANCA):c.3409-14G>T
NM_000135.4(FANCA):c.3409-15C>T
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3409-19G>A
NM_000135.4(FANCA):c.3409-20T>C
NM_000135.4(FANCA):c.3409-22_3409-20del
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3C>T
NM_000135.4(FANCA):c.3409-5T>G rs2038402047
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3409-7C>T
NM_000135.4(FANCA):c.3409-8T>C rs2038402291
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe) rs138417003
NM_000135.4(FANCA):c.3414C>A (p.Leu1138=) rs2143107000
NM_000135.4(FANCA):c.3414C>T (p.Leu1138=)
NM_000135.4(FANCA):c.3417G>A (p.Leu1139=) rs1376693764
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser)
NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr)
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.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.3429G>T (p.Leu1143=)
NM_000135.4(FANCA):c.342C>G (p.Ala114=) rs777989691
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys)
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His) rs2038400529
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs) rs2143106522
NM_000135.4(FANCA):c.3441C>T (p.Asp1147=) rs2038400468
NM_000135.4(FANCA):c.3450G>C (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3450G>T (p.Leu1150=)
NM_000135.4(FANCA):c.3456C>G (p.Val1152=) rs530619438
NM_000135.4(FANCA):c.3456C>T (p.Val1152=)
NM_000135.4(FANCA):c.345G>A (p.Gly115=)
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu)
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val)
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs) rs2143106211
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.3471C>G (p.Ala1157=) rs2143106130
NM_000135.4(FANCA):c.3471C>T (p.Ala1157=)
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
NM_000135.4(FANCA):c.3477C>T (p.Cys1159=) rs2143106071
NM_000135.4(FANCA):c.3480G>A (p.Gln1160=) rs983310870
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.3486A>G (p.Lys1162=) rs746491969
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3492C>G (p.Pro1164=)
NM_000135.4(FANCA):c.3493T>C (p.Leu1165=)
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val)
NM_000135.4(FANCA):c.3499T>C (p.Leu1167=) rs2143105878
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile)
NM_000135.4(FANCA):c.3504C>A (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3504C>T (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3507T>C (p.Ser1169=) rs1211736375
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+10C>T rs1431403785
NM_000135.4(FANCA):c.3513+12G>A
NM_000135.4(FANCA):c.3513+12G>T
NM_000135.4(FANCA):c.3513+14C>T
NM_000135.4(FANCA):c.3513+17G>A
NM_000135.4(FANCA):c.3513+17G>C
NM_000135.4(FANCA):c.3513+17_3513+19del rs2038397381
NM_000135.4(FANCA):c.3513+1G>C
NM_000135.4(FANCA):c.3513+20T>C
NM_000135.4(FANCA):c.3513+20T>G
NM_000135.4(FANCA):c.3513+4G>C rs878946193
NM_000135.4(FANCA):c.3513+8A>G
NM_000135.4(FANCA):c.3513+9G>C rs1394337237
NM_000135.4(FANCA):c.3514-10C>G rs561558430
NM_000135.4(FANCA):c.3514-10C>T rs561558430
NM_000135.4(FANCA):c.3514-11T>C
NM_000135.4(FANCA):c.3514-11T>G
NM_000135.4(FANCA):c.3514-11TC[2] rs1442804362
NM_000135.4(FANCA):c.3514-13G>C
NM_000135.4(FANCA):c.3514-14T>C
NM_000135.4(FANCA):c.3514-15G>A
NM_000135.4(FANCA):c.3514-16G>C
NM_000135.4(FANCA):c.3514-1G>T rs2143088468
NM_000135.4(FANCA):c.3514-5C>A rs2143088493
NM_000135.4(FANCA):c.3514-5C>T
NM_000135.4(FANCA):c.3514-6C>T rs1018130831
NM_000135.4(FANCA):c.3514-7T>C rs2143088550
NM_000135.4(FANCA):c.3514-8C>G
NM_000135.4(FANCA):c.3514-8C>T rs2143088562
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala)
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys)
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3525G>C (p.Pro1175=) rs765106818
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile)
NM_000135.4(FANCA):c.3528C>T (p.Ser1176=)
NM_000135.4(FANCA):c.3529C>T (p.Leu1177=) rs2038335485
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3534G>A (p.Glu1178=) rs1598067510
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.3540G>A (p.Val1180=) rs1423399664
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del)
NM_000135.4(FANCA):c.3541C>T (p.Leu1181=) rs2143088159
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg) rs1300778675
NM_000135.4(FANCA):c.3543G>A (p.Leu1181=)
NM_000135.4(FANCA):c.3543G>C (p.Leu1181=) rs1336604242
NM_000135.4(FANCA):c.3543G>T (p.Leu1181=) rs1336604242
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly) rs763856094
NM_000135.4(FANCA):c.354C>T (p.Ala118=) rs2143680281
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln) rs147672303
NM_000135.4(FANCA):c.3552G>C (p.Arg1184=) rs774029286
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter) rs770393751
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) rs1185165443
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3560G>A (p.Arg1187Lys)
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe)
NM_000135.4(FANCA):c.3567C>T (p.Cys1189=)
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter) rs2062210802
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.3577C>T (p.Leu1193=) rs2143087511
NM_000135.4(FANCA):c.357T>C (p.Ser119=) rs2143680257
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser) rs1415910337
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3582C>T (p.Pro1194=) rs2143087454
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.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3589C>T (p.Leu1197=) rs2143087368
NM_000135.4(FANCA):c.3591G>C (p.Leu1197=) rs55773634
NM_000135.4(FANCA):c.3591G>T (p.Leu1197=)
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=) rs1240994313
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
NM_000135.4(FANCA):c.3600A>G (p.Leu1200=) rs2143087262
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
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.360C>T (p.Ser120=) rs968636087
NM_000135.4(FANCA):c.3610C>A (p.Arg1204=)
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val)
NM_000135.4(FANCA):c.3621C>T (p.Ala1207=) rs1269626015
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+13G>T rs2143086671
NM_000135.4(FANCA):c.3626+18G>C
NM_000135.4(FANCA):c.3626+19A>C
NM_000135.4(FANCA):c.3626+1G>C rs34885858
NM_000135.4(FANCA):c.3626+2T>G
NM_000135.4(FANCA):c.3626+5G>A rs370801038
NM_000135.4(FANCA):c.3626+7G>T
NM_000135.4(FANCA):c.3627-11C>G
NM_000135.4(FANCA):c.3627-11C>T
NM_000135.4(FANCA):c.3627-13C>T
NM_000135.4(FANCA):c.3627-13CT[2]
NM_000135.4(FANCA):c.3627-14T>A
NM_000135.4(FANCA):c.3627-14dup
NM_000135.4(FANCA):c.3627-16_3627-11dup
NM_000135.4(FANCA):c.3627-18C>A
NM_000135.4(FANCA):c.3627-18C>G
NM_000135.4(FANCA):c.3627-1G>C rs2062172440
NM_000135.4(FANCA):c.3627-20C>G rs1567598547
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3627-4C>G rs2062172483
NM_000135.4(FANCA):c.3627-5C>A rs1417894512
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3627-9C>G
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs) rs2062172394
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe)
NM_000135.4(FANCA):c.3633C>G (p.Leu1211=)
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr)
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe) rs1203053045
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer) rs1567598488
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) rs1567598479
NM_000135.4(FANCA):c.3639del (p.Glu1214fs) rs2062172051
NM_000135.4(FANCA):c.363G>C (p.Val121=)
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val)
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser) rs1262639465
NM_000135.4(FANCA):c.3648C>T (p.Ala1216=)
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.3657A>T (p.Ala1219=) rs2143062526
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala)
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg) rs2062171639
NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile)
NM_000135.4(FANCA):c.3663C>T (p.Asn1221=) rs781216012
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala)
NM_000135.4(FANCA):c.3666G>T (p.Pro1222=) rs780031277
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter) rs2143062233
NM_000135.4(FANCA):c.3675C>T (p.Leu1225=)
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
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.367C>T (p.Gln123Ter)
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.3696T>C (p.Phe1232=) rs563966600
NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu) rs563966600
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
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.369G>A (p.Gln123=)
NM_000135.4(FANCA):c.36C>G (p.Gly12=) rs751361669
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val) rs1598063117
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.3715G>T (p.Glu1239Ter)
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.371T>C (p.Ile124Thr)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3726C>A (p.Ile1242=) rs972127356
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=)
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=) rs1051421921
NM_000135.4(FANCA):c.3729G>A (p.Arg1243=) rs762929756
NM_000135.4(FANCA):c.372C>A (p.Ile124=) rs765016775
NM_000135.4(FANCA):c.372C>G (p.Ile124Met) rs765016775
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn)
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs) rs2143060935
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.3754G>T (p.Glu1252Ter)
NM_000135.4(FANCA):c.3756G>A (p.Glu1252=)
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.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter) rs2062169243
NM_000135.4(FANCA):c.3765+13del
NM_000135.4(FANCA):c.3765+14T>A
NM_000135.4(FANCA):c.3765+16C>G
NM_000135.4(FANCA):c.3765+16C>T rs745639466
NM_000135.4(FANCA):c.3765+18T>G
NM_000135.4(FANCA):c.3765+19T>C
NM_000135.4(FANCA):c.3765+20T>C
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.3765+7T>C
NM_000135.4(FANCA):c.3765+8A>C rs2143060169
NM_000135.4(FANCA):c.3766-1G>A
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
NM_000135.4(FANCA):c.3768A>C (p.Leu1256=)
NM_000135.4(FANCA):c.3768A>T (p.Leu1256=) rs747616573
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala)
NM_000135.4(FANCA):c.3771G>A (p.Leu1257=) rs1402327994
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.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
NM_000135.4(FANCA):c.3783C>T (p.Phe1261=) rs2062115689
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
NM_000135.4(FANCA):c.3786C>T (p.Phe1262=)
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
NM_000135.4(FANCA):c.378G>A (p.Thr126=) rs544680245
NM_000135.4(FANCA):c.378G>C (p.Thr126=) rs544680245
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3792C>G (p.Ser1264=)
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3795G>A (p.Leu1265=) rs1010989878
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
NM_000135.4(FANCA):c.3801C>G (p.Gly1267=) rs143772894
NM_000135.4(FANCA):c.3804G>C (p.Leu1268=) rs1449170388
NM_000135.4(FANCA):c.3807G>A (p.Leu1269=)
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter) rs752800577
NM_000135.4(FANCA):c.380C>T (p.Ala127Val) rs2143679916
NM_000135.4(FANCA):c.3810G>C (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3810G>T (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3813A>T (p.Ser1271=)
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr) rs2062114648
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
NM_000135.4(FANCA):c.3819G>A (p.Leu1273=)
NM_000135.4(FANCA):c.381T>C (p.Ala127=) rs771232511
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
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.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=)
NM_000135.4(FANCA):c.3829-71_3868del
NM_000135.4(FANCA):c.3834C>T (p.Thr1278=)
NM_000135.4(FANCA):c.3837A>G (p.Thr1279=) rs2151714884
NM_000135.4(FANCA):c.3841C>T (p.Leu1281=) rs2151714870
NM_000135.4(FANCA):c.3846A>C (p.Pro1282=) rs2151714851
NM_000135.4(FANCA):c.3846A>G (p.Pro1282=) rs2151714851
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.3855C>T (p.Phe1285=)
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) rs761705192
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.3867A>T (p.Ala1289=)
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.3873C>A (p.Ile1291=) rs2062089414
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.387G>T (p.Ala129=)
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3888G>A (p.Glu1296=) rs1204611147
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.3900A>C (p.Ile1300=) rs2151714696
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs) rs2151714692
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=) rs2151714673
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro) rs1598055304
NM_000135.4(FANCA):c.3909G>A (p.Leu1303=)
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp)
NM_000135.4(FANCA):c.3910del (p.Ala1304fs) rs2151714666
NM_000135.4(FANCA):c.3912A>T (p.Ala1304=) rs545021222
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) rs748453841
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
NM_000135.4(FANCA):c.3918T>C (p.Phe1306=) rs2151714638
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.3922T>C (p.Leu1308=)
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe) rs775127240
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs) rs2151714603
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3930G>A (p.Glu1310=) rs2151714594
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp) rs2151714594
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
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+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3935-2A>T rs1189106357
NM_000135.4(FANCA):c.3936C>T (p.Asp1312=)
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.4(FANCA):c.3939C>T (p.Leu1313=)
NM_000135.4(FANCA):c.393C>A (p.Thr131=) rs1217316233
NM_000135.4(FANCA):c.3940A>C (p.Arg1314=)
NM_000135.4(FANCA):c.3945G>A (p.Leu1315=) rs941282193
NM_000135.4(FANCA):c.3945G>C (p.Leu1315=) rs941282193
NM_000135.4(FANCA):c.3948G>A (p.Gly1316=)
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys)
NM_000135.4(FANCA):c.3951G>A (p.Arg1317=) rs1439529670
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.3954C>T (p.Leu1318=) rs187297609
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
NM_000135.4(FANCA):c.3957C>T (p.Leu1319=)
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.3966G>A (p.Val1322=)
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.3972G>A (p.Pro1324=)
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu) rs962823945
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
NM_000135.4(FANCA):c.397C>T (p.His133Tyr)
NM_000135.4(FANCA):c.3981_3982inv (p.Thr1328Ala)
NM_000135.4(FANCA):c.3984C>A (p.Thr1328=) rs917010763
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
NM_000135.4(FANCA):c.3990G>C (p.Leu1330=)
NM_000135.4(FANCA):c.3996T>A (p.Pro1332=)
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu) rs774576283
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000135.4(FANCA):c.4008C>T (p.Tyr1336=) rs1278514199
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4011-1G>A rs761988162
NM_000135.4(FANCA):c.4011-1G>C rs761988162
NM_000135.4(FANCA):c.4014T>C (p.Leu1338=) rs2151712093
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4020C>T (p.Ser1340=)
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
NM_000135.4(FANCA):c.4023C>T (p.Tyr1341=)
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
NM_000135.4(FANCA):c.4026C>T (p.Phe1342=) rs775186188
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.4038G>T (p.Ala1346=) rs755479861
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr) rs751928369
NM_000135.4(FANCA):c.4041C>A (p.Ala1347=)
NM_000135.4(FANCA):c.4041C>T (p.Ala1347=) rs2062058480
NM_000135.4(FANCA):c.4045A>C (p.Arg1349=)
NM_000135.4(FANCA):c.4053G>A (p.Glu1351=) rs1477796994
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.405G>A (p.Val135=) rs1598190634
NM_000135.4(FANCA):c.4060C>T (p.Leu1354=) rs2151711931
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
NM_000135.4(FANCA):c.4062G>A (p.Leu1354=)
NM_000135.4(FANCA):c.4062G>T (p.Leu1354=)
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
NM_000135.4(FANCA):c.4068T>C (p.Val1356=)
NM_000135.4(FANCA):c.406C>T (p.Leu136=) rs2040854292
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
NM_000135.4(FANCA):c.4071T>G (p.Ala1357=) rs764090579
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His) rs1555533313
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
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.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.4098G>A (p.Gln1366=)
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
NM_000135.4(FANCA):c.4101C>T (p.Leu1367=)
NM_000135.4(FANCA):c.4104C>T (p.Phe1368=) rs375237681
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.4110dup (p.Gly1371fs)
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
NM_000135.4(FANCA):c.4116T>C (p.Asp1372=)
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs) rs1567592815
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.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) rs199599393
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser) rs2062055110
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
NM_000135.4(FANCA):c.4137A>G (p.Pro1379=) rs1172262659
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.4144A>C (p.Arg1382=)
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.4149C>T (p.Ser1383=) rs2151711619
NM_000135.4(FANCA):c.414T>C (p.Thr138=)
NM_000135.4(FANCA):c.4152G>A (p.Leu1384=) rs2062054135
NM_000135.4(FANCA):c.4155G>A (p.Glu1385=) rs770551622
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp) rs770551622
NM_000135.4(FANCA):c.4158C>G (p.Leu1386=) rs1366841040
NM_000135.4(FANCA):c.415G>A (p.Val139Met)
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4168-1G>A
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val) rs2062046761
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4173C>T (p.Asn1391=)
NM_000135.4(FANCA):c.4176C>G (p.Pro1392=) rs776860862
NM_000135.4(FANCA):c.4176C>T (p.Pro1392=) rs776860862
NM_000135.4(FANCA):c.417G>C (p.Val139=) rs2143679237
NM_000135.4(FANCA):c.4182A>G (p.Glu1394=)
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs) rs2062046121
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.418G>T (p.Glu140Ter) rs2040853528
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.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.4200T>A (p.Arg1400=)
NM_000135.4(FANCA):c.4200T>C (p.Arg1400=) rs2151710848
NM_000135.4(FANCA):c.4209G>A (p.Leu1403=)
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter) rs2151710810
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln) rs201494304
NM_000135.4(FANCA):c.4236A>G (p.Lys1412=)
NM_000135.4(FANCA):c.4239G>A (p.Lys1413=)
NM_000135.4(FANCA):c.423G>A (p.Gln141=) rs1598190596
NM_000135.4(FANCA):c.423_426+14del rs2143678941
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs) rs2062043035
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr) rs772122405
NM_000135.4(FANCA):c.4242C>T (p.Ser1414=) rs745958661
NM_000135.4(FANCA):c.4245C>T (p.Phe1415=)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
NM_000135.4(FANCA):c.4255del (p.Ala1419fs) rs2151710687
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)
NM_000135.4(FANCA):c.426+11A>G
NM_000135.4(FANCA):c.426+13C>G
NM_000135.4(FANCA):c.426+16A>G rs1598190483
NM_000135.4(FANCA):c.426+17G>A
NM_000135.4(FANCA):c.426+18A>T
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.426+2T>A rs1598190568
NM_000135.4(FANCA):c.426+2T>C
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.426+3A>G
NM_000135.4(FANCA):c.426+4A>G
NM_000135.4(FANCA):c.426+8A>C
NM_000135.4(FANCA):c.426+8A>G
NM_000135.4(FANCA):c.426+9C>A
NM_000135.4(FANCA):c.426+9C>G rs1161434880
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp) rs2151710661
NM_000135.4(FANCA):c.4261-2A>C rs915983602
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.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.4269T>C (p.Ala1423=) rs764113707
NM_000135.4(FANCA):c.427-10C>G rs766856688
NM_000135.4(FANCA):c.427-12C>G
NM_000135.4(FANCA):c.427-12C>T
NM_000135.4(FANCA):c.427-12CT[2] rs2143678081
NM_000135.4(FANCA):c.427-17G>A
NM_000135.4(FANCA):c.427-19dup
NM_000135.4(FANCA):c.427-20A>C
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.427-8C>G rs750757532
NM_000135.4(FANCA):c.427-8C>T rs750757532
NM_000135.4(FANCA):c.427-9T>C rs1598190255
NM_000135.4(FANCA):c.4272T>C (p.Asp1424=) rs2151709956
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.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val) rs1350768758
NM_000135.4(FANCA):c.4278G>A (p.Gly1426=) rs2151709922
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln)
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp) rs2040847073
NM_000135.4(FANCA):c.4281C>T (p.Asp1427=) rs1598048898
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His) rs748856769
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
NM_000135.4(FANCA):c.4287C>T (p.Asp1429=) rs2151709886
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>A (p.Glu1431=)
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.4296G>A (p.Val1432=) rs2151709848
NM_000135.4(FANCA):c.4296G>T (p.Val1432=)
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.42C>T (p.Asp14=)
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
NM_000135.4(FANCA):c.4308C>T (p.Leu1436=) rs199937973
NM_000135.4(FANCA):c.4311G>A (p.Gln1437=)
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
NM_000135.4(FANCA):c.4314C>T (p.Ser1438=)
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4317A>G (p.Arg1439=)
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.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
NM_000135.4(FANCA):c.432G>A (p.Lys144=)
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.4335C>T (p.Asp1445=) rs374830555
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
NM_000135.4(FANCA):c.433C>T (p.Leu145=) rs2143677903
NM_000135.4(FANCA):c.4341C>T (p.Asp1447=)
NM_000135.4(FANCA):c.4342C>T (p.Leu1448=)
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.4347C>A (p.Ser1449=) rs2151709677
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg) rs757549007
NM_000135.4(FANCA):c.4350G>A (p.Gln1450=) rs749315540
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.4362C>T (p.Leu1454=) rs2151709620
NM_000135.4(FANCA):c.442C>T (p.Leu148=) rs2040846687
NM_000135.4(FANCA):c.443del (p.Leu148fs)
NM_000135.4(FANCA):c.447dup (p.Glu150fs) rs2040846500
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
NM_000135.4(FANCA):c.44_69del (p.Pro15fs) rs2041137887
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu) rs2143677733
NM_000135.4(FANCA):c.456T>A (p.Ala152=)
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter) rs774448881
NM_000135.4(FANCA):c.459G>A (p.Gln153=) rs2040846276
NM_000135.4(FANCA):c.45A>G (p.Pro15=)
NM_000135.4(FANCA):c.462T>C (p.Tyr154=) rs1598190143
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
NM_000135.4(FANCA):c.471A>G (p.Ala157=) rs2143677575
NM_000135.4(FANCA):c.474C>T (p.His158=)
NM_000135.4(FANCA):c.48G>A (p.Gly16=) rs2143731322
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.495C>A (p.Ser165=)
NM_000135.4(FANCA):c.495C>G (p.Ser165=)
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.504A>G (p.Gln168=)
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.50del (p.Gly17fs) rs748624754
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.516A>G (p.Lys172=)
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys) rs1454055874
NM_000135.4(FANCA):c.522+10A>C rs2143676941
NM_000135.4(FANCA):c.522+11G>A
NM_000135.4(FANCA):c.522+13T>C rs2143676888
NM_000135.4(FANCA):c.522+17A>C
NM_000135.4(FANCA):c.522+17_522+20del
NM_000135.4(FANCA):c.522+19del
NM_000135.4(FANCA):c.522+2T>C rs2143677013
NM_000135.4(FANCA):c.522+6dup rs2143676990
NM_000135.4(FANCA):c.522+8T>G rs764367299
NM_000135.4(FANCA):c.523-10T>C rs776200171
NM_000135.4(FANCA):c.523-11T>G
NM_000135.4(FANCA):c.523-14G>C rs2040744991
NM_000135.4(FANCA):c.523-15T>C
NM_000135.4(FANCA):c.523-18T>G
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.523-19_523-16del rs748945841
NM_000135.4(FANCA):c.523-19_523-17del
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-20del
NM_000135.4(FANCA):c.523-20dup rs775750910
NM_000135.4(FANCA):c.523-24_523-10dup
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.523-37TTGTTT[4]
NM_000135.4(FANCA):c.523-4dup
NM_000135.4(FANCA):c.523-5_523-4dup rs2143657729
NM_000135.4(FANCA):c.523-7T>C
NM_000135.4(FANCA):c.523-8T>C rs2143657783
NM_000135.4(FANCA):c.523-9G>C rs2143657796
NM_000135.4(FANCA):c.523-9_523-6del rs2143657759
NM_000135.4(FANCA):c.523-9_523-7del rs777446762
NM_000135.4(FANCA):c.525T>C (p.Ser175=) rs2143657669
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys) rs35566151
NM_000135.4(FANCA):c.528T>C (p.Ser176=) rs902257190
NM_000135.4(FANCA):c.529T>G (p.Leu177Val) rs2040743961
NM_000135.4(FANCA):c.534G>A (p.Leu178=)
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr) rs2143657513
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val) rs1598184528
NM_000135.4(FANCA):c.542dup (p.Val182fs)
NM_000135.4(FANCA):c.543G>T (p.Ala181=) rs143314367
NM_000135.4(FANCA):c.544G>A (p.Val182Met)
NM_000135.4(FANCA):c.545T>C (p.Val182Ala) rs2040743042
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.54C>T (p.Arg18=) rs1380627104
NM_000135.4(FANCA):c.552T>C (p.His184=) rs2143657286
NM_000135.4(FANCA):c.553C>G (p.Leu185Val) rs587778323
NM_000135.4(FANCA):c.555del (p.His186fs)
NM_000135.4(FANCA):c.558C>G (p.His186Gln) rs149159377
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.559G>C (p.Val187Leu) rs761538996
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
NM_000135.4(FANCA):c.561A>G (p.Val187=) rs1050053060
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter) rs776471397
NM_000135.4(FANCA):c.564A>G (p.Gln188=) rs760287473
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg) rs2143657111
NM_000135.4(FANCA):c.567C>G (p.Gly189=) rs2143657102
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr)
NM_000135.4(FANCA):c.570T>C (p.Ile190=)
NM_000135.4(FANCA):c.573G>C (p.Val191=) rs2143657009
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile) rs771439604
NM_000135.4(FANCA):c.577C>T (p.Leu193=) rs141861208
NM_000135.4(FANCA):c.579G>T (p.Leu193=)
NM_000135.4(FANCA):c.57G>A (p.Arg19=)
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg)
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys) rs2143656849
NM_000135.4(FANCA):c.586C>T (p.Leu196=) rs781718994
NM_000135.4(FANCA):c.588G>C (p.Leu196=)
NM_000135.4(FANCA):c.588G>T (p.Leu196=) rs2143656786
NM_000135.4(FANCA):c.596+11A>G
NM_000135.4(FANCA):c.596+17G>A
NM_000135.4(FANCA):c.596+18A>G
NM_000135.4(FANCA):c.596+1G>A
NM_000135.4(FANCA):c.596+1G>C rs2143656696
NM_000135.4(FANCA):c.596+20T>G rs2143656568
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.596+6G>T rs369548513
NM_000135.4(FANCA):c.596+9C>T
NM_000135.4(FANCA):c.597-10G>A
NM_000135.4(FANCA):c.597-11T>G
NM_000135.4(FANCA):c.597-13T>G rs572176378
NM_000135.4(FANCA):c.597-14G>A
NM_000135.4(FANCA):c.597-14G>T
NM_000135.4(FANCA):c.597-14GT[3] rs751501568
NM_000135.4(FANCA):c.597-16C>G
NM_000135.4(FANCA):c.597-16C>T
NM_000135.4(FANCA):c.597-18C>A
NM_000135.4(FANCA):c.597-18C>T
NM_000135.4(FANCA):c.597-2A>T
NM_000135.4(FANCA):c.597-4C>G rs2143632540
NM_000135.4(FANCA):c.597-6C>T rs2143632553
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.603C>G (p.Pro201=)
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly)
NM_000135.4(FANCA):c.607A>G (p.Met203Val) rs2143632366
NM_000135.4(FANCA):c.60G>C (p.Arg20Ser)
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly) rs777556447
NM_000135.4(FANCA):c.615T>A (p.Ala205=)
NM_000135.4(FANCA):c.616G>T (p.Val206Leu) rs2143632297
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp) rs144420697
NM_000135.4(FANCA):c.624G>T (p.Ser208=) rs922099383
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter) rs2143632171
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
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.633C>T (p.Phe211=) rs1162376354
NM_000135.4(FANCA):c.63C>G (p.Ala21=)
NM_000135.4(FANCA):c.63C>T (p.Ala21=) rs973617998
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg)
NM_000135.4(FANCA):c.642G>A (p.Leu214=)
NM_000135.4(FANCA):c.642G>T (p.Leu214=)
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
NM_000135.4(FANCA):c.643_644del (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr)
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser) rs750011288
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe)
NM_000135.4(FANCA):c.657A>G (p.Glu219=) rs761287924
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser) rs761341952
NM_000135.4(FANCA):c.660G>A (p.Gln220=)
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.664G>T (p.Glu222Ter) 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.672C>G (p.Ser224=) rs2040598879
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>G (p.Ala23Gly) rs776297241
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.690C>A (p.Val230=) rs942275917
NM_000135.4(FANCA):c.690C>T (p.Val230=) rs942275917
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.69C>G (p.Ala23=) rs746429608
NM_000135.4(FANCA):c.6C>A (p.Ser2=) rs982258436
NM_000135.4(FANCA):c.6C>T (p.Ser2=) rs982258436
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe) rs1316244239
NM_000135.4(FANCA):c.709+10T>A rs2040596341
NM_000135.4(FANCA):c.709+11G>A
NM_000135.4(FANCA):c.709+12A>G
NM_000135.4(FANCA):c.709+13C>G
NM_000135.4(FANCA):c.709+13C>T rs763207362
NM_000135.4(FANCA):c.709+14A>C
NM_000135.4(FANCA):c.709+14A>G
NM_000135.4(FANCA):c.709+14_709+15del
NM_000135.4(FANCA):c.709+16G>C
NM_000135.4(FANCA):c.709+19G>A
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.709+8C>G rs2143631129
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter) rs1311396994
NM_000135.4(FANCA):c.710-11T>C
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.710-15T>A
NM_000135.4(FANCA):c.710-16T>A
NM_000135.4(FANCA):c.710-16T>C rs2143616238
NM_000135.4(FANCA):c.710-1G>A
NM_000135.4(FANCA):c.710-1G>T
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.710-3C>A
NM_000135.4(FANCA):c.710-5T>C rs2040523640
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.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.72G>A (p.Glu24=)
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter) rs868620166
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser)
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
NM_000135.4(FANCA):c.737del (p.Gly246fs) rs2143615845
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) rs760744752
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu)
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter) rs878853666
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.757C>T (p.Leu253=)
NM_000135.4(FANCA):c.760A>C (p.Arg254=) rs770552398
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.765A>G (p.Arg255=)
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>G (p.Thr256=)
NM_000135.4(FANCA):c.769G>T (p.Val257Leu) rs777311234
NM_000135.4(FANCA):c.76C>T (p.Leu26=) rs2041137276
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
NM_000135.4(FANCA):c.774G>A (p.Glu258=)
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.777T>A (p.Pro259=)
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly)
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu)
NM_000135.4(FANCA):c.789G>A (p.Pro263=) rs34354932
NM_000135.4(FANCA):c.789G>T (p.Pro263=) rs34354932
NM_000135.4(FANCA):c.78G>A (p.Leu26=) rs1180368142
NM_000135.4(FANCA):c.79+13G>C
NM_000135.4(FANCA):c.79+14G>A
NM_000135.4(FANCA):c.79+15C>G
NM_000135.4(FANCA):c.79+15C>T
NM_000135.4(FANCA):c.79+16A>T
NM_000135.4(FANCA):c.79+17G>T rs2143730538
NM_000135.4(FANCA):c.79+19C>T
NM_000135.4(FANCA):c.79+20C>T
NM_000135.4(FANCA):c.79+21_79+43del
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.79+9G>A rs2143730627
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.792+11A>G rs2143615222
NM_000135.4(FANCA):c.792+13G>A
NM_000135.4(FANCA):c.792+17_792+19del
NM_000135.4(FANCA):c.792+19T>C
NM_000135.4(FANCA):c.792+1G>A rs2143615250
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.792+8G>C rs2143615230
NM_000135.4(FANCA):c.793-10A>G rs368979136
NM_000135.4(FANCA):c.793-12C>T rs746312984
NM_000135.4(FANCA):c.793-16C>G
NM_000135.4(FANCA):c.793-16C>T rs2040372946
NM_000135.4(FANCA):c.793-16_793-15del
NM_000135.4(FANCA):c.793-18C>A rs776158574
NM_000135.4(FANCA):c.793-18C>G
NM_000135.4(FANCA):c.793-18C>T rs776158574
NM_000135.4(FANCA):c.793-1G>C rs1567642367
NM_000135.4(FANCA):c.793-2A>G
NM_000135.4(FANCA):c.793-5G>A
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-6T>C rs1159861002
NM_000135.4(FANCA):c.795_796inv (p.Thr266Ala)
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu) rs2143585439
NM_000135.4(FANCA):c.798G>A (p.Thr266=) rs767444643
NM_000135.4(FANCA):c.798G>C (p.Thr266=)
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.80-10C>A rs771005210
NM_000135.4(FANCA):c.80-10C>G
NM_000135.4(FANCA):c.80-10C>T rs771005210
NM_000135.4(FANCA):c.80-13C>G
NM_000135.4(FANCA):c.80-15G>A
NM_000135.4(FANCA):c.80-16C>G
NM_000135.4(FANCA):c.80-16C>T
NM_000135.4(FANCA):c.80-4G>A rs747881254
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.800_801dup (p.Asp268fs) rs2143585362
NM_000135.4(FANCA):c.804T>C (p.Asp268=)
NM_000135.4(FANCA):c.805G>A (p.Val269Ile) rs1555566973
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
NM_000135.4(FANCA):c.807A>G (p.Val269=)
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.814A>T (p.Arg272Ter)
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
NM_000135.4(FANCA):c.825T>A (p.Ile275=)
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000135.4(FANCA):c.826+11T>G
NM_000135.4(FANCA):c.826+14A>G
NM_000135.4(FANCA):c.826+15C>G
NM_000135.4(FANCA):c.826+15C>T
NM_000135.4(FANCA):c.826+17G>A
NM_000135.4(FANCA):c.826+17G>T
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.826+4A>G
NM_000135.4(FANCA):c.826+8A>G rs774666675
NM_000135.4(FANCA):c.826+9A>G rs2143584994
NM_000135.4(FANCA):c.826+9A>T rs2143584994
NM_000135.4(FANCA):c.827-10_827-9del rs1419817251
NM_000135.4(FANCA):c.827-10dup
NM_000135.4(FANCA):c.827-11T>C
NM_000135.4(FANCA):c.827-11T>G
NM_000135.4(FANCA):c.827-12C>T
NM_000135.4(FANCA):c.827-1G>A
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.827-20G>T
NM_000135.4(FANCA):c.827-3C>T
NM_000135.4(FANCA):c.827-4T>G
NM_000135.4(FANCA):c.827-5T>C rs751311949
NM_000135.4(FANCA):c.827-6C>T rs756991336
NM_000135.4(FANCA):c.827-7T>G rs370344285
NM_000135.4(FANCA):c.827-9T>C rs2143581941
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
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.834T>C (p.Leu278=)
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>A (p.Leu281=)
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.84_87del (p.Arg29fs)
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.85A>C (p.Arg29=) rs2143724622
NM_000135.4(FANCA):c.861G>A (p.Glu287=) rs2143581361
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.867C>T (p.Ser289=) rs1463784702
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.876C>T (p.His292=) rs527897404
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu)
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) rs1555566545
NM_000135.4(FANCA):c.882C>T (p.Ile294=) rs754520622
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.891_893+1del rs2040352874
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg) rs2040352921
NM_000135.4(FANCA):c.893+11G>A
NM_000135.4(FANCA):c.893+11G>C
NM_000135.4(FANCA):c.893+11G>T
NM_000135.4(FANCA):c.893+16T>C
NM_000135.4(FANCA):c.893+1G>C
NM_000135.4(FANCA):c.893+1G>T rs2040352832
NM_000135.4(FANCA):c.893+20C>A
NM_000135.4(FANCA):c.893+4T>C rs2143580838
NM_000135.4(FANCA):c.893+4T>G rs2143580838
NM_000135.4(FANCA):c.893+8C>G
NM_000135.4(FANCA):c.893+8C>T
NM_000135.4(FANCA):c.894-15C>G
NM_000135.4(FANCA):c.894-16T>A
NM_000135.4(FANCA):c.894-16T>C
NM_000135.4(FANCA):c.894-19C>G
NM_000135.4(FANCA):c.894-19C>T
NM_000135.4(FANCA):c.894-3C>T rs2040234388
NM_000135.4(FANCA):c.894-4G>T rs1275962279
NM_000135.4(FANCA):c.894-8A>C rs11648881
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.897del (p.Phe299fs)
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.903G>A (p.Val301=)
NM_000135.4(FANCA):c.909T>C (p.Ser303=) rs2143558882
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu) rs745451374
NM_000135.4(FANCA):c.915C>T (p.His305=)
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
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.91A>T (p.Lys31Ter) rs2041101553
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp) rs1441102361
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg)
NM_000135.4(FANCA):c.930A>G (p.Val310=)
NM_000135.4(FANCA):c.93G>A (p.Lys31=) rs759630319
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) rs759630319
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr)
NM_000135.4(FANCA):c.945T>C (p.Pro315=) rs760583815
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000135.4(FANCA):c.948G>C (p.Leu316=)
NM_000135.4(FANCA):c.954G>A (p.Arg318=)
NM_000135.4(FANCA):c.957C>T (p.Phe319=) rs17226068
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.4(FANCA):c.960C>T (p.Phe320=)
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.970C>T (p.Leu324=) rs1484944856
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.972del (p.Thr325fs)
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu)
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys) rs2041101017
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys) rs2143558288
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile) rs757617469
NM_000135.4(FANCA):c.987T>A (p.Thr329=)
NM_000135.4(FANCA):c.987T>C (p.Thr329=) rs1045997042
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.988C>G (p.His330Asp) rs753951882
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly)
NM_000135.4(FANCA):c.993C>T (p.Ser331=)
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr) rs1056497675
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser)
NM_000135.4(FANCA):c.999G>A (p.Val333=) rs1358267888
NM_000135.4(FANCA):c.999G>C (p.Val333=) rs1358267888
NM_000135.4(FANCA):c.999G>T (p.Val333=)
NM_000135.4(FANCA):c.9C>T (p.Asp3=)
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.-14del rs2136102536
NM_000136.3(FANCC):c.-18C>A rs762660689
NM_000136.3(FANCC):c.-19C>A rs772475410
NM_000136.3(FANCC):c.-19C>T
NM_000136.3(FANCC):c.-21C>G rs1017979233
NM_000136.3(FANCC):c.-21C>T rs1017979233
NM_000136.3(FANCC):c.-33G>A rs2136102765
NM_000136.3(FANCC):c.-34T>C rs2136102771
NM_000136.3(FANCC):c.-36G>A rs1226649340
NM_000136.3(FANCC):c.-44G>A rs2136102852
NM_000136.3(FANCC):c.-49T>C rs2136102893
NM_000136.3(FANCC):c.-52C>T rs2136102913
NM_000136.3(FANCC):c.-59T>C
NM_000136.3(FANCC):c.-62C>G rs1688044477
NM_000136.3(FANCC):c.-65C>G rs371725430
NM_000136.3(FANCC):c.-66C>T rs1057524245
NM_000136.3(FANCC):c.-69G>A rs1588354162
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.-78-5del rs2136103100
NM_000136.3(FANCC):c.-78-9T>C rs2136103120
NM_000136.3(FANCC):c.-79+1del
NM_000136.3(FANCC):c.-79+2dup rs2136457021
NM_000136.3(FANCC):c.-79+6C>T rs2136456999
NM_000136.3(FANCC):c.-79+7G>A rs551170090
NM_000136.3(FANCC):c.-79+7G>C rs551170090
NM_000136.3(FANCC):c.-79+8_-79+18del rs2136456958
NM_000136.3(FANCC):c.-8T>C
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser) rs78555330
NM_000136.3(FANCC):c.1008A>C (p.Ala336=)
NM_000136.3(FANCC):c.1008A>G (p.Ala336=) rs1588070906
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.1017C>A (p.Thr339=) rs754772354
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1023T>G (p.Phe341Leu) rs758439579
NM_000136.3(FANCC):c.1029C>T (p.Tyr343=) rs2072504418
NM_000136.3(FANCC):c.102C>G (p.Thr34=) rs2136101018
NM_000136.3(FANCC):c.1032T>C (p.Thr344=) rs2134693062
NM_000136.3(FANCC):c.1034C>T (p.Ser345Phe) rs1348320350
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr) rs143212932
NM_000136.3(FANCC):c.1053G>A (p.Val351=) rs1301137678
NM_000136.3(FANCC):c.1057C>T (p.Leu353=)
NM_000136.3(FANCC):c.1059G>A (p.Leu353=) rs1588070620
NM_000136.3(FANCC):c.1059G>T (p.Leu353=) rs1588070620
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
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.1068T>A (p.Pro356=)
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1072+20G>A rs773767586
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1072+3G>C rs2134691883
NM_000136.3(FANCC):c.1072+5G>A
NM_000136.3(FANCC):c.1072+9G>A rs2072499164
NM_000136.3(FANCC):c.1073-10C>T rs2134632915
NM_000136.3(FANCC):c.1073-15T>G
NM_000136.3(FANCC):c.1073-18A>C rs876661081
NM_000136.3(FANCC):c.1073-19T>C
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1073-6C>T
NM_000136.3(FANCC):c.1073-9C>T
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg) rs730881721
NM_000136.3(FANCC):c.1080T>G (p.Pro360=)
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.1086A>G (p.Gly362=) rs2134632077
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.1089C>T (p.His363=) rs2134631925
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe) rs1060502514
NM_000136.3(FANCC):c.1095C>G (p.Leu365=) rs1057521687
NM_000136.3(FANCC):c.1095C>T (p.Leu365=) rs1057521687
NM_000136.3(FANCC):c.1098G>A (p.Gln366=) rs1564652354
NM_000136.3(FANCC):c.1098G>C (p.Gln366His) rs1564652354
NM_000136.3(FANCC):c.1101A>C (p.Thr367=)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1104G>T (p.Leu368=)
NM_000136.3(FANCC):c.1106del (p.Lys369fs)
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) rs1321399501
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.1125C>G (p.Leu375=) rs2134631148
NM_000136.3(FANCC):c.1126A>C (p.Arg376=)
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.1134A>T (p.Ala378=)
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+11A>G
NM_000136.3(FANCC):c.1154+12C>T
NM_000136.3(FANCC):c.1154+13T>G
NM_000136.3(FANCC):c.1154+14G>A rs751776859
NM_000136.3(FANCC):c.1154+17C>T rs1356928463
NM_000136.3(FANCC):c.1154+19C>T
NM_000136.3(FANCC):c.1154+20T>G
NM_000136.3(FANCC):c.1154+2dup rs1386979449
NM_000136.3(FANCC):c.1154+8A>G rs2134630249
NM_000136.3(FANCC):c.1154+9A>G
NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)
NM_000136.3(FANCC):c.1155-12C>T
NM_000136.3(FANCC):c.1155-13G>A
NM_000136.3(FANCC):c.1155-13G>C rs747142087
NM_000136.3(FANCC):c.1155-14T>G rs2134552606
NM_000136.3(FANCC):c.1155-18G>C
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1155-2A>G rs1343170313
NM_000136.3(FANCC):c.1155-7G>A
NM_000136.3(FANCC):c.1155-7G>C rs2071943921
NM_000136.3(FANCC):c.1155-8del rs2071944189
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.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1170C>T (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117T>G (p.Ala39=)
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter) rs2134551203
NM_000136.3(FANCC):c.1188G>A (p.Leu396=) rs2134551050
NM_000136.3(FANCC):c.1191C>T (p.Phe397=)
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.1199del (p.Phe400fs) rs2134550787
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
NM_000136.3(FANCC):c.120G>A (p.Gln40=) rs905858585
NM_000136.3(FANCC):c.120G>C (p.Gln40His) rs905858585
NM_000136.3(FANCC):c.1212T>C (p.Ala404=) rs2134550393
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.1227G>A (p.Glu409=) rs2134549988
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)
NM_000136.3(FANCC):c.1234C>T (p.Leu412=)
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.1248C>G (p.Ala416=) rs747051975
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp) rs1064795135
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) rs1057521431
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg) rs864622514
NM_000136.3(FANCC):c.1257C>A (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1257C>G (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1260G>A (p.Thr420=) rs749709412
NM_000136.3(FANCC):c.1260G>T (p.Thr420=)
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1264C>T (p.Leu422=) rs756716463
NM_000136.3(FANCC):c.126G>A (p.Gln42=) rs1831173438
NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly)
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter) rs2134548133
NM_000136.3(FANCC):c.1275C>T (p.Leu425=)
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.1285_1297del (p.Tyr429fs)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1293C>A (p.Gly431=) rs1330163328
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.1299T>G (p.Arg433=) rs2134547152
NM_000136.3(FANCC):c.129G>A (p.Glu43=) rs1246204881
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
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.1308G>A (p.Arg436=)
NM_000136.3(FANCC):c.1311G>A (p.Gln437=) rs1588047742
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser) rs1588353402
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs) rs2071928804
NM_000136.3(FANCC):c.1327_1328del (p.Met443fs) rs2134546063
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+11G>A
NM_000136.3(FANCC):c.1329+15C>T
NM_000136.3(FANCC):c.1329+16C>T
NM_000136.3(FANCC):c.1329+16del
NM_000136.3(FANCC):c.1329+18C>T
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1329G>A (p.Met443Ile) rs772133680
NM_000136.3(FANCC):c.132C>T (p.Phe44=) rs2136100617
NM_000136.3(FANCC):c.1330-10T>C rs1386511892
NM_000136.3(FANCC):c.1330-12_1330-8del
NM_000136.3(FANCC):c.1330-13T>A
NM_000136.3(FANCC):c.1330-13T>C
NM_000136.3(FANCC):c.1330-19_1330-10del rs1389222142
NM_000136.3(FANCC):c.1330-2A>C rs2134456820
NM_000136.3(FANCC):c.1330-2A>G
NM_000136.3(FANCC):c.1330-7T>C
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.3(FANCC):c.1332C>T (p.Val444=)
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.133C>T (p.Leu45=) rs1588353394
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.1351_1352del (p.Gly451fs)
NM_000136.3(FANCC):c.1358T>C (p.Leu453Pro)
NM_000136.3(FANCC):c.1359C>T (p.Leu453=)
NM_000136.3(FANCC):c.135A>G (p.Leu45=)
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.1371C>G (p.Ser457=) rs2134456187
NM_000136.3(FANCC):c.1371C>T (p.Ser457=) rs2134456187
NM_000136.3(FANCC):c.1375A>G (p.Ser459Gly)
NM_000136.3(FANCC):c.1377C>T (p.Ser459=)
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu) rs1588029402
NM_000136.3(FANCC):c.1389A>G (p.Ser463=)
NM_000136.3(FANCC):c.138G>A (p.Arg46=) rs1057521212
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1395G>A (p.Gln465=)
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val) rs1554828405
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter) rs1831172189
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) rs1588353368
NM_000136.3(FANCC):c.140_143dup (p.Met48fs) rs1831171802
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn)
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly) rs1375711161
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1437C>G (p.Leu479=)
NM_000136.3(FANCC):c.1440A>G (p.Arg480=) rs757477758
NM_000136.3(FANCC):c.1440dup (p.Ala481fs) rs2071512726
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) rs773270231
NM_000136.3(FANCC):c.1446T>C (p.Pro482=) rs754079401
NM_000136.3(FANCC):c.1450C>A (p.Gln484Lys) rs764271678
NM_000136.3(FANCC):c.1455G>A (p.Gln485=) rs2134455295
NM_000136.3(FANCC):c.1456C>A (p.Leu486Met)
NM_000136.3(FANCC):c.1458G>C (p.Leu486=) rs1588029111
NM_000136.3(FANCC):c.1458G>T (p.Leu486=) rs1588029111
NM_000136.3(FANCC):c.1461C>G (p.Ile487Met) rs2134455188
NM_000136.3(FANCC):c.1464G>A (p.Arg488=)
NM_000136.3(FANCC):c.1467C>T (p.His489=) rs1554828385
NM_000136.3(FANCC):c.1471C>G (p.Leu491Val)
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del) rs2071510744
NM_000136.3(FANCC):c.1473C>T (p.Leu491=)
NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser)
NM_000136.3(FANCC):c.147T>C (p.Tyr49=) rs1462121358
NM_000136.3(FANCC):c.1483C>T (p.Leu495=) rs2134454968
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1485G>C (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe)
NM_000136.3(FANCC):c.1488C>T (p.Leu496=) rs1057520505
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter) rs762501862
NM_000136.3(FANCC):c.1497T>C (p.Pro499=)
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.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.1504C>T (p.His502Tyr)
NM_000136.3(FANCC):c.1513G>T (p.Ala505Ser) rs780179187
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.3(FANCC):c.1520A>T (p.Asp507Val)
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432
NM_000136.3(FANCC):c.1527C>T (p.Ile509=) rs1554828322
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn) rs1233501553
NM_000136.3(FANCC):c.1530C>G (p.Thr510=) rs372199352
NM_000136.3(FANCC):c.1531C>T (p.Leu511=) rs1588028784
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro) rs1554828313
NM_000136.3(FANCC):c.1533+11C>T
NM_000136.3(FANCC):c.1533+12del
NM_000136.3(FANCC):c.1533+17T>C
NM_000136.3(FANCC):c.1533+1G>A
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1533+5G>A rs1588028749
NM_000136.3(FANCC):c.1533+6T>A rs2071505631
NM_000136.3(FANCC):c.1533+7C>A
NM_000136.3(FANCC):c.1533+7C>T
NM_000136.3(FANCC):c.1533+8T>C rs2134454126
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1533G>C (p.Leu511=) rs2071506268
NM_000136.3(FANCC):c.1534-10C>G rs1356632872
NM_000136.3(FANCC):c.1534-13G>T
NM_000136.3(FANCC):c.1534-15C>T
NM_000136.3(FANCC):c.1534-17T>C
NM_000136.3(FANCC):c.1534-19T>C
NM_000136.3(FANCC):c.1534-5T>C rs730881727
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.1534-8G>T rs2071090579
NM_000136.3(FANCC):c.1539T>C (p.Ala513=) rs2134383837
NM_000136.3(FANCC):c.1542C>G (p.His514Gln)
NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr)
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp) rs1588008452
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp) rs2071088182
NM_000136.3(FANCC):c.1563dup (p.Ile522fs)
NM_000136.3(FANCC):c.156G>A (p.Leu52=) rs1060502518
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe) rs1060502518
NM_000136.3(FANCC):c.1572C>A (p.Gly524=)
NM_000136.3(FANCC):c.1572C>T (p.Gly524=) rs2134383478
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu) rs971409322
NM_000136.3(FANCC):c.1578T>A (p.Leu526=)
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro) rs587778326
NM_000136.3(FANCC):c.1587C>G (p.Thr529=) rs1015147630
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.15A>T (p.Ser5=)
NM_000136.3(FANCC):c.1602T>C (p.Asn534=)
NM_000136.3(FANCC):c.1608T>C (p.Leu536=)
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.1620C>T (p.Ser540=)
NM_000136.3(FANCC):c.1621C>T (p.Pro541Ser) rs2071084988
NM_000136.3(FANCC):c.1626A>G (p.Arg542=)
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.1629A>G (p.Ser543=) rs1352980665
NM_000136.3(FANCC):c.162G>A (p.Glu54=)
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer) rs2134382573
NM_000136.3(FANCC):c.1631A>G (p.Glu544Gly)
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val) rs2071083777
NM_000136.3(FANCC):c.1638G>A (p.Leu546=) rs1429537932
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.164T>C (p.Met55Thr) rs1060502513
NM_000136.3(FANCC):c.165+14C>A
NM_000136.3(FANCC):c.165+14C>T
NM_000136.3(FANCC):c.165+15A>G
NM_000136.3(FANCC):c.165+17A>C
NM_000136.3(FANCC):c.165+18A>C
NM_000136.3(FANCC):c.165+18A>G
NM_000136.3(FANCC):c.165+1G>A
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.165+5G>T
NM_000136.3(FANCC):c.165+9T>A rs1326163629
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.1655_1658dup (p.Leu554fs)
NM_000136.3(FANCC):c.166-10T>C rs2136091541
NM_000136.3(FANCC):c.166-20A>G
NM_000136.3(FANCC):c.166-3C>T rs1554857868
NM_000136.3(FANCC):c.166-6T>C rs1254372586
NM_000136.3(FANCC):c.166-9C>T rs372507085
NM_000136.3(FANCC):c.1663C>A (p.Arg555=) rs370974124
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1668T>C (p.Thr556=)
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
NM_000136.3(FANCC):c.167A>T (p.Asp56Val) rs759662786
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser) rs1831061339
NM_000136.3(FANCC):c.177A>T (p.Thr59=)
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.201del (p.Ile67fs) rs2136091157
NM_000136.3(FANCC):c.204T>G (p.Gly68=) rs2136091102
NM_000136.3(FANCC):c.207A>G (p.Gln69=) rs1554857834
NM_000136.3(FANCC):c.211T>C (p.Leu71=) rs1159035875
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe) rs2136091002
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser) rs567465885
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.226del (p.Trp76fs) rs2136090871
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys) rs876661132
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer) rs2136090829
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala) rs2136090802
NM_000136.3(FANCC):c.234T>G (p.Pro78=) rs1588350226
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro) rs752249253
NM_000136.3(FANCC):c.240T>C (p.Ile80=) rs1554857813
NM_000136.3(FANCC):c.246A>G (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.246A>T (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.250+10A>T rs2136090521
NM_000136.3(FANCC):c.250+1G>A rs2136090597
NM_000136.3(FANCC):c.250+8T>A
NM_000136.3(FANCC):c.250+9C>A rs1831054662
NM_000136.3(FANCC):c.251-10C>G rs2136049759
NM_000136.3(FANCC):c.251-10C>T rs2136049759
NM_000136.3(FANCC):c.251-12T>G rs1397340091
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.251-2A>G rs1057517219
NM_000136.3(FANCC):c.251-2A>T
NM_000136.3(FANCC):c.251-4G>A
NM_000136.3(FANCC):c.251-5T>C rs2136049740
NM_000136.3(FANCC):c.251-5del
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser) rs2136049598
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile) rs2136049561
NM_000136.3(FANCC):c.273A>G (p.Ile91Met)
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.279C>T (p.Cys93=) rs770743418
NM_000136.3(FANCC):c.27T>C (p.Ser9=) rs2136101890
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
NM_000136.3(FANCC):c.288T>C (p.Cys96=) rs864622349
NM_000136.3(FANCC):c.292A>G (p.Ile98Val)
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr) rs1830583670
NM_000136.3(FANCC):c.293_296del (p.Ile98fs) rs754779102
NM_000136.3(FANCC):c.294T>C (p.Ile98=) rs2136049291
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.303A>G (p.Glu101=)
NM_000136.3(FANCC):c.306A>G (p.Pro102=) rs1830582695
NM_000136.3(FANCC):c.30T>C (p.Cys10=)
NM_000136.3(FANCC):c.315T>C (p.Ser105=) rs749048345
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer) rs2136048818
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.328C>G (p.Leu110Val) rs1554856102
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
NM_000136.3(FANCC):c.330T>C (p.Leu110=) rs2136048963
NM_000136.3(FANCC):c.333C>T (p.Asn111=) rs2136048913
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
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.343C>T (p.Gln115Ter)
NM_000136.3(FANCC):c.345+18G>T rs765413863
NM_000136.3(FANCC):c.345+19C>T
NM_000136.3(FANCC):c.345+3A>G
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.345+9G>T rs2136048623
NM_000136.3(FANCC):c.345+9_345+11del rs1693164213
NM_000136.3(FANCC):c.346-10T>C
NM_000136.3(FANCC):c.346-11_346-10del rs863224324
NM_000136.3(FANCC):c.346-12T>A
NM_000136.3(FANCC):c.346-14T>G
NM_000136.3(FANCC):c.346-18del
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.346-3del rs766373744
NM_000136.3(FANCC):c.346-7T>A
NM_000136.3(FANCC):c.346-7T>G rs1588220867
NM_000136.3(FANCC):c.346-9G>C rs2135589079
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.351A>T (p.Val117=) rs754914546
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.354A>G (p.Leu118=)
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys) rs762884109
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) rs374602991
NM_000136.3(FANCC):c.372A>G (p.Ala124=)
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro) rs2135588560
NM_000136.3(FANCC):c.375C>G (p.Leu125=)
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.381del (p.Phe127fs) rs2135588524
NM_000136.3(FANCC):c.387A>G (p.Lys129=)
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
NM_000136.3(FANCC):c.390A>G (p.Glu130=) rs1419677503
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.396T>A (p.Ala132=) rs1482798473
NM_000136.3(FANCC):c.396T>C (p.Ala132=)
NM_000136.3(FANCC):c.399T>G (p.Leu133=) rs864622764
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.417G>A (p.Gly139=)
NM_000136.3(FANCC):c.417G>T (p.Gly139=) rs190925189
NM_000136.3(FANCC):c.422C>T (p.Ala141Val) rs2135587894
NM_000136.3(FANCC):c.423A>C (p.Ala141=)
NM_000136.3(FANCC):c.423A>T (p.Ala141=)
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.42T>C (p.Phe14=) rs760653185
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>G (p.Pro147Ala)
NM_000136.3(FANCC):c.445T>C (p.Leu149=) rs2135587533
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter) rs1825714345
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+12A>C
NM_000136.3(FANCC):c.456+16T>G
NM_000136.3(FANCC):c.456+1G>A rs2135587402
NM_000136.3(FANCC):c.456+20C>T rs1057520283
NM_000136.3(FANCC):c.456+6T>C
NM_000136.3(FANCC):c.456+8T>G rs761639538
NM_000136.3(FANCC):c.457-10del rs763416214
NM_000136.3(FANCC):c.457-12T>G rs188659251
NM_000136.3(FANCC):c.457-15G>A
NM_000136.3(FANCC):c.457-16T>A
NM_000136.3(FANCC):c.457-17C>T
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-4A>G
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.463T>C (p.Leu155=) rs2135579789
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile) rs1825652301
NM_000136.3(FANCC):c.469T>C (p.Leu157=) rs1825652301
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser) rs200828924
NM_000136.3(FANCC):c.474G>C (p.Ala158=)
NM_000136.3(FANCC):c.477T>C (p.Ser159=)
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr) rs1825650685
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
NM_000136.3(FANCC):c.495T>C (p.His165=) rs2135578887
NM_000136.3(FANCC):c.498T>A (p.Leu166=)
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
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.51G>A (p.Gln17=) rs2136101629
NM_000136.3(FANCC):c.521+11A>C
NM_000136.3(FANCC):c.521+12A>G
NM_000136.3(FANCC):c.521+14T>G
NM_000136.3(FANCC):c.521+15A>G
NM_000136.3(FANCC):c.521+17A>T
NM_000136.3(FANCC):c.521+20T>G
NM_000136.3(FANCC):c.521+5G>A rs1301899973
NM_000136.3(FANCC):c.521+5del rs2135578132
NM_000136.3(FANCC):c.521+7G>A
NM_000136.3(FANCC):c.522-16_522-14del
NM_000136.3(FANCC):c.522-6C>T rs763869417
NM_000136.3(FANCC):c.522-7del
NM_000136.3(FANCC):c.522-9C>A
NM_000136.3(FANCC):c.522-9C>G
NM_000136.3(FANCC):c.523A>G (p.Met175Val) rs876661083
NM_000136.3(FANCC):c.529C>T (p.Pro177Ser)
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)
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.540G>A (p.Val180=) rs2135428712
NM_000136.3(FANCC):c.540_557del (p.Ala181_Val186del)
NM_000136.3(FANCC):c.546C>G (p.Ser182=)
NM_000136.3(FANCC):c.547C>G (p.Leu183Val)
NM_000136.3(FANCC):c.547C>T (p.Leu183=) rs1554838616
NM_000136.3(FANCC):c.549G>T (p.Leu183=) rs863224611
NM_000136.3(FANCC):c.552A>G (p.Ser184=) rs2135428471
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.574dup (p.Thr192fs) rs2135428096
NM_000136.3(FANCC):c.576C>G (p.Thr192=)
NM_000136.3(FANCC):c.577C>T (p.Leu193=) rs2135427993
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.591C>G (p.Asp197Glu) rs1457631500
NM_000136.3(FANCC):c.591C>T (p.Asp197=) rs1457631500
NM_000136.3(FANCC):c.592C>A (p.Pro198Thr)
NM_000136.3(FANCC):c.594C>G (p.Pro198=)
NM_000136.3(FANCC):c.595del (p.Leu199fs) rs1057519366
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.5dup (p.Gln3fs) rs1268491295
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.60T>C (p.Ser20=) rs2136101529
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe) rs1830064754
NM_000136.3(FANCC):c.612del (p.Ile205fs)
NM_000136.3(FANCC):c.615C>A (p.Ile205=)
NM_000136.3(FANCC):c.61G>C (p.Val21Leu) rs772386467
NM_000136.3(FANCC):c.621T>C (p.His207=) rs1588181585
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu) rs140781259
NM_000136.3(FANCC):c.633T>C (p.Pro211=) rs2135427041
NM_000136.3(FANCC):c.635del (p.Gln212fs) rs2135427018
NM_000136.3(FANCC):c.63A>G (p.Val21=) rs1477321622
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.641T>A (p.Ile214Asn)
NM_000136.3(FANCC):c.642C>A (p.Ile214=) rs777274497
NM_000136.3(FANCC):c.642C>T (p.Ile214=) rs777274497
NM_000136.3(FANCC):c.645C>T (p.Leu215=)
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
NM_000136.3(FANCC):c.648G>A (p.Gln216=)
NM_000136.3(FANCC):c.651A>G (p.Pro217=)
NM_000136.3(FANCC):c.657C>T (p.Phe219=) rs2135426603
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys) rs1012529150
NM_000136.3(FANCC):c.663G>A (p.Glu221=) rs2135426464
NM_000136.3(FANCC):c.666T>C (p.Ala222=) rs2135426385
NM_000136.3(FANCC):c.669A>G (p.Val223=) rs1588181348
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys) rs374176091
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.676G>A (p.Ala226Thr)
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.683T>C (p.Leu228Ser) rs2135426128
NM_000136.3(FANCC):c.686+10A>G rs2135425899
NM_000136.3(FANCC):c.686+13T>C
NM_000136.3(FANCC):c.686+16T>G rs774813556
NM_000136.3(FANCC):c.686+17T>C
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)
NM_000136.3(FANCC):c.687-11C>A
NM_000136.3(FANCC):c.687-12T>G
NM_000136.3(FANCC):c.687-14T>A
NM_000136.3(FANCC):c.687-15A>G
NM_000136.3(FANCC):c.687-16T>C
NM_000136.3(FANCC):c.687-17T>G
NM_000136.3(FANCC):c.687-19_687-16del
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.687-4A>G rs2135168785
NM_000136.3(FANCC):c.687-6T>C rs2135168920
NM_000136.3(FANCC):c.687-6T>G
NM_000136.3(FANCC):c.687-6dup
NM_000136.3(FANCC):c.687-9T>G rs2135169028
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.6T>C (p.Ala2=) rs376084231
NM_000136.3(FANCC):c.700C>G (p.Leu234Val) rs1827537458
NM_000136.3(FANCC):c.704C>G (p.Pro235Arg)
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.707T>C (p.Met236Thr)
NM_000136.3(FANCC):c.711A>G (p.Ser237=)
NM_000136.3(FANCC):c.718G>A (p.Val240Ile) rs866787972
NM_000136.3(FANCC):c.720C>A (p.Val240=) rs1444550098
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter) rs2135167716
NM_000136.3(FANCC):c.733C>G (p.Arg245Gly)
NM_000136.3(FANCC):c.735G>A (p.Arg245=) rs1174763492
NM_000136.3(FANCC):c.738C>T (p.His246=) rs1414558793
NM_000136.3(FANCC):c.742C>T (p.Pro248Ser)
NM_000136.3(FANCC):c.743C>G (p.Pro248Arg)
NM_000136.3(FANCC):c.744C>G (p.Pro248=) rs758201013
NM_000136.3(FANCC):c.744C>T (p.Pro248=) rs758201013
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.753A>G (p.Glu251=)
NM_000136.3(FANCC):c.759A>T (p.Ala253=)
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.765G>A (p.Leu255=) rs1588134446
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
NM_000136.3(FANCC):c.773T>C (p.Phe258Ser)
NM_000136.3(FANCC):c.778A>G (p.Lys260Glu) rs1282238372
NM_000136.3(FANCC):c.783A>C (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.783A>G (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.78C>T (p.Ser26=)
NM_000136.3(FANCC):c.797G>A (p.Arg266Lys)
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)
NM_000136.3(FANCC):c.798A>G (p.Arg266=)
NM_000136.3(FANCC):c.803G>A (p.Cys268Tyr) rs2135165898
NM_000136.3(FANCC):c.804T>C (p.Cys268=)
NM_000136.3(FANCC):c.807G>A (p.Leu269=) rs2135165808
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.819A>G (p.Glu273=)
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.834T>C (p.Asp278=) rs1259273920
NM_000136.3(FANCC):c.837A>G (p.Ser279=)
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro) rs1588134159
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter) rs749230615
NM_000136.3(FANCC):c.840G>C (p.Ser280=)
NM_000136.3(FANCC):c.840G>T (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+12G>A rs2135164340
NM_000136.3(FANCC):c.843+16T>C
NM_000136.3(FANCC):c.843+19_843+20insTTTT
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+1G>T rs587779909
NM_000136.3(FANCC):c.843+20G>A
NM_000136.3(FANCC):c.843+5G>T rs369082921
NM_000136.3(FANCC):c.844-10C>T rs1588106888
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.844-15C>T
NM_000136.3(FANCC):c.844-18G>A
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.844-1G>T rs774209201
NM_000136.3(FANCC):c.844-20A>G
NM_000136.3(FANCC):c.844-6T>C rs1417324884
NM_000136.3(FANCC):c.844-6T>G rs1417324884
NM_000136.3(FANCC):c.844-7T>C
NM_000136.3(FANCC):c.844-8T>C rs2134968959
NM_000136.3(FANCC):c.844-9C>G
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys) rs1564667865
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter) 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.863del (p.Pro288fs) rs2134968283
NM_000136.3(FANCC):c.866C>T (p.Ala289Val) rs777732881
NM_000136.3(FANCC):c.867C>T (p.Ala289=) rs1588106727
NM_000136.3(FANCC):c.873C>T (p.Phe291=) rs2134967899
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.876G>T (p.Arg292=) rs1215600153
NM_000136.3(FANCC):c.879T>G (p.Val293=)
NM_000136.3(FANCC):c.880G>A (p.Val294Ile)
NM_000136.3(FANCC):c.883dup (p.Asp295fs) rs1826007748
NM_000136.3(FANCC):c.885T>C (p.Asp295=)
NM_000136.3(FANCC):c.887A>G (p.Glu296Gly) rs2134967462
NM_000136.3(FANCC):c.888G>A (p.Glu296=) rs779166059
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.3(FANCC):c.896+10A>C
NM_000136.3(FANCC):c.896+13_896+48del rs749142233
NM_000136.3(FANCC):c.896+14T>C rs2134966492
NM_000136.3(FANCC):c.896+16T>C rs764624750
NM_000136.3(FANCC):c.896+19C>T
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>A rs863224441
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.896+5A>T rs1826005529
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.897-11G>T
NM_000136.3(FANCC):c.897-12T>G
NM_000136.3(FANCC):c.897-20T>A
NM_000136.3(FANCC):c.897-6G>A rs2134925431
NM_000136.3(FANCC):c.897-7dup
NM_000136.3(FANCC):c.897G>C (p.Arg299Ser)
NM_000136.3(FANCC):c.900T>C (p.Cys300=)
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.903A>G (p.Ala301=) rs1825785279
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.909G>C (p.Leu303=) rs1588100992
NM_000136.3(FANCC):c.90C>A (p.Thr30=) rs756684704
NM_000136.3(FANCC):c.90C>G (p.Thr30=) rs756684704
NM_000136.3(FANCC):c.911A>C (p.Glu304Ala)
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala) rs1397912085
NM_000136.3(FANCC):c.915C>G (p.Thr305=)
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu) rs1564665867
NM_000136.3(FANCC):c.921G>A (p.Gly307=) rs1410236696
NM_000136.3(FANCC):c.922G>A (p.Ala308Thr)
NM_000136.3(FANCC):c.924C>T (p.Ala308=) rs864622225
NM_000136.3(FANCC):c.935_936del (p.Ile312fs)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.956C>A (p.Thr319Lys)
NM_000136.3(FANCC):c.957G>T (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.957_958delinsTT (p.Gln320Ter) rs2134922671
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000136.3(FANCC):c.960G>A (p.Gln320=)
NM_000136.3(FANCC):c.972A>C (p.Glu324Asp) rs1261385032
NM_000136.3(FANCC):c.972A>G (p.Glu324=) rs1261385032
NM_000136.3(FANCC):c.975T>C (p.Ala325=)
NM_000136.3(FANCC):c.981G>A (p.Glu327=) rs2134922117
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.992_995dup (p.Leu333fs)
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg) rs781746980
NM_000136.3(FANCC):c.996+11T>C
NM_000136.3(FANCC):c.996+18T>C
NM_000136.3(FANCC):c.996+19A>G rs2134920464
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>C rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000136.3(FANCC):c.996+2T>C
NM_000136.3(FANCC):c.996+8A>T
NM_000136.3(FANCC):c.996+8dup
NM_000136.3(FANCC):c.996+9T>A rs757984397
NM_000136.3(FANCC):c.996+9T>C rs757984397
NM_000136.3(FANCC):c.997-14C>A
NM_000136.3(FANCC):c.997-15T>C rs922997650
NM_000136.3(FANCC):c.997-3C>T rs878853674
NM_000136.3(FANCC):c.997-5G>T
NM_000136.3(FANCC):c.997-64_997-16dup
NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val) rs1788590971
NM_000474.4(TWIST1):c.176del (p.Gly59fs)
NM_000474.4(TWIST1):c.180C>T (p.Val60=) rs565371578
NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)
NM_000474.4(TWIST1):c.197del (p.Pro66fs) rs1585617611
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) rs1051003265
NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) rs104894065
NM_000474.4(TWIST1):c.211del (p.Gln71fs)
NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) rs754552080
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.256_276dup (p.Gly86_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs) rs2115396985
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup) rs750238627
NM_000474.4(TWIST1):c.264C>T (p.Gly88=)
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.277dup (p.Ser93fs) rs1585617402
NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)
NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter) rs757253926
NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) rs1585617188
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs) rs2115396782
NM_000474.4(TWIST1):c.33G>T (p.Ser11=) rs1554442101
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) rs1554442021
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter) rs2115396763
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly) rs1554442016
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly) rs1233220987
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) rs1233220987
NM_000474.4(TWIST1):c.359G>A (p.Arg120His)
NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro) rs1788582586
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile) rs1585617108
NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro) rs1554442008
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) rs1554441995
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) rs1554441992
NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup) rs1554441992
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) rs1554441989
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) rs1563159980
NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del) rs2115396671
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) rs1585616948
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.408dup (p.Thr137fs) rs1554441993
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser) rs2115396651
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu) rs1788580776
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu) rs1554441987
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) rs1788580326
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.443C>T (p.Thr148Ile) rs1788580077
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) rs1788579980
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser) rs2115396578
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu) rs2115396574
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu) rs2115396572
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe) rs1563159945
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.51G>C (p.Leu17=)
NM_000474.4(TWIST1):c.530_537dup (p.His180fs) rs2115396467
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs) rs2115397248
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter) rs2115396414
NM_000474.4(TWIST1):c.600G>C (p.Ala200=)
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) rs1585617865
NM_000474.4(TWIST1):c.79dup (p.Gln27fs)
NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter) rs104894055
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)
NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)
NM_000751.3(CHRND):c.1026G>A (p.Val342=) rs1574634359
NM_000751.3(CHRND):c.102A>C (p.Gln34His) rs780478522
NM_000751.3(CHRND):c.1033G>C (p.Glu345Gln) rs758772612
NM_000751.3(CHRND):c.1047+10T>C rs2106211747
NM_000751.3(CHRND):c.1047+15C>T
NM_000751.3(CHRND):c.1047+17G>A rs997482710
NM_000751.3(CHRND):c.1047+20C>T
NM_000751.3(CHRND):c.1047+3G>A
NM_000751.3(CHRND):c.1047+5G>T rs780881475
NM_000751.3(CHRND):c.1048-12A>G
NM_000751.3(CHRND):c.1056G>T (p.Leu352=)
NM_000751.3(CHRND):c.1068G>A (p.Pro356=)
NM_000751.3(CHRND):c.1071G>C (p.Glu357Asp) rs1235160365
NM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)
NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)
NM_000751.3(CHRND):c.1083G>C (p.Met361Ile)
NM_000751.3(CHRND):c.1085C>G (p.Ser362Cys) rs1054895490
NM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)
NM_000751.3(CHRND):c.108G>A (p.Lys36=) rs2106206094
NM_000751.3(CHRND):c.1098G>C (p.Glu366Asp)
NM_000751.3(CHRND):c.1106C>G (p.Pro369Arg) rs1691800096
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
NM_000751.3(CHRND):c.1122G>T (p.Leu374=) rs1438844656
NM_000751.3(CHRND):c.1123G>T (p.Val375Leu)
NM_000751.3(CHRND):c.1151T>A (p.Ile384Asn)
NM_000751.3(CHRND):c.1155C>T (p.Ser385=) rs2106214377
NM_000751.3(CHRND):c.1161C>G (p.Ala387=) rs376017740
NM_000751.3(CHRND):c.1161C>T (p.Ala387=) rs376017740
NM_000751.3(CHRND):c.1167G>T (p.Glu389Asp)
NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)
NM_000751.3(CHRND):c.1187G>A (p.Arg396His) rs770837281
NM_000751.3(CHRND):c.118A>G (p.Lys40Glu) rs1475752234
NM_000751.3(CHRND):c.1197C>A (p.Leu399=) rs2106214422
NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)
NM_000751.3(CHRND):c.1203C>T (p.Phe401=) rs138405676
NM_000751.3(CHRND):c.1218G>T (p.Glu406Asp)
NM_000751.3(CHRND):c.1219C>T (p.Arg407Trp) rs766721840
NM_000751.3(CHRND):c.1223A>G (p.His408Arg)
NM_000751.3(CHRND):c.1233C>T (p.Ala411=) rs1553575402
NM_000751.3(CHRND):c.1237C>A (p.Arg413Ser) rs1242056715
NM_000751.3(CHRND):c.1238G>A (p.Arg413His)
NM_000751.3(CHRND):c.1238G>T (p.Arg413Leu)
NM_000751.3(CHRND):c.1252+16T>A
NM_000751.3(CHRND):c.1252+9C>A
NM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)
NM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)
NM_000751.3(CHRND):c.1253-11C>A
NM_000751.3(CHRND):c.1253-11C>G
NM_000751.3(CHRND):c.1253-13C>A
NM_000751.3(CHRND):c.1290A>T (p.Glu430Asp) rs1691812180
NM_000751.3(CHRND):c.1298A>G (p.Asn433Ser)
NM_000751.3(CHRND):c.1305G>A (p.Leu435=)
NM_000751.3(CHRND):c.1325C>T (p.Ala442Val)
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs) rs1553575435
NM_000751.3(CHRND):c.1367del (p.Asn456fs) rs775837014
NM_000751.3(CHRND):c.1371+17T>C
NM_000751.3(CHRND):c.1371+1G>T
NM_000751.3(CHRND):c.1375A>G (p.Lys459Glu)
NM_000751.3(CHRND):c.1391G>A (p.Arg464Gln) rs1574638484
NM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)
NM_000751.3(CHRND):c.13G>T (p.Val5Leu)
NM_000751.3(CHRND):c.1403C>G (p.Thr468Arg)
NM_000751.3(CHRND):c.1403C>T (p.Thr468Ile) rs374459301
NM_000751.3(CHRND):c.1407G>A (p.Val469=)
NM_000751.3(CHRND):c.140A>T (p.His47Leu)
NM_000751.3(CHRND):c.1411C>G (p.Arg471Gly) rs533115724
NM_000751.3(CHRND):c.1413C>G (p.Arg471=) rs766187603
NM_000751.3(CHRND):c.1422G>A (p.Leu474=)
NM_000751.3(CHRND):c.1428G>A (p.Val476=)
NM_000751.3(CHRND):c.1433C>T (p.Thr478Met)
NM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)
NM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)
NM_000751.3(CHRND):c.1442TGG[2] (p.Val483del)
NM_000751.3(CHRND):c.1444G>C (p.Val482Leu)
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)
NM_000751.3(CHRND):c.1482C>T (p.Tyr494=)
NM_000751.3(CHRND):c.1484A>G (p.Asn495Ser)
NM_000751.3(CHRND):c.148G>A (p.Glu50Lys)
NM_000751.3(CHRND):c.1494A>G (p.Pro498=)
NM_000751.3(CHRND):c.1515C>A (p.Asp505Glu) rs2106215790
NM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)
NM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)
NM_000751.3(CHRND):c.1530C>G (p.Asn510Lys) rs114463490
NM_000751.3(CHRND):c.1535A>G (p.Gln512Arg) rs2106215821
NM_000751.3(CHRND):c.1553A>G (p.Ter518Trp) rs1203669806
NM_000751.3(CHRND):c.1554G>T (p.Ter518Tyr) rs780761579
NM_000751.3(CHRND):c.158A>G (p.Asp53Gly)
NM_000751.3(CHRND):c.167T>C (p.Leu56Pro) rs1553573832
NM_000751.3(CHRND):c.170C>T (p.Ala57Val)
NM_000751.3(CHRND):c.174C>A (p.Leu58=)
NM_000751.3(CHRND):c.178C>G (p.Leu60Val) rs200743096
NM_000751.3(CHRND):c.180C>T (p.Leu60=)
NM_000751.3(CHRND):c.187C>A (p.Leu63Ile) rs2106206284
NM_000751.3(CHRND):c.198+12_198+13insA
NM_000751.3(CHRND):c.198+13C>G
NM_000751.3(CHRND):c.199-13C>T
NM_000751.3(CHRND):c.199-8A>G rs2106207309
NM_000751.3(CHRND):c.211del (p.Glu71fs)
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro) rs1691518594
NM_000751.3(CHRND):c.231G>A (p.Val77=)
NM_000751.3(CHRND):c.236T>C (p.Ile79Thr)
NM_000751.3(CHRND):c.243+9G>A rs1015689711
NM_000751.3(CHRND):c.244-18A>T
NM_000751.3(CHRND):c.244-3C>T
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter) rs2106208285
NM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)
NM_000751.3(CHRND):c.259C>T (p.Arg87Trp)
NM_000751.3(CHRND):c.262C>G (p.Leu88Val) rs180971628
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) rs545298641
NM_000751.3(CHRND):c.27G>C (p.Gly9=) rs554645326
NM_000751.3(CHRND):c.27G>T (p.Gly9=) rs554645326
NM_000751.3(CHRND):c.281A>G (p.Glu94Gly) rs1691557368
NM_000751.3(CHRND):c.292A>G (p.Ile98Val)
NM_000751.3(CHRND):c.298G>C (p.Val100Leu) rs955184518
NM_000751.3(CHRND):c.29T>C (p.Leu10Pro)
NM_000751.3(CHRND):c.2T>C (p.Met1Thr) rs750174953
NM_000751.3(CHRND):c.304C>A (p.Arg102Ser)
NM_000751.3(CHRND):c.304C>T (p.Arg102Cys) rs775578238
NM_000751.3(CHRND):c.312C>G (p.Pro104=)
NM_000751.3(CHRND):c.314C>G (p.Pro105Arg) rs769160054
NM_000751.3(CHRND):c.316dup (p.Asp106fs)
NM_000751.3(CHRND):c.31C>T (p.Leu11=) rs1235166420
NM_000751.3(CHRND):c.336G>A (p.Glu112=)
NM_000751.3(CHRND):c.340G>C (p.Val114Leu)
NM_000751.3(CHRND):c.34G>A (p.Ala12Thr) rs1691456942
NM_000751.3(CHRND):c.361G>A (p.Gly121Ser) rs752699014
NM_000751.3(CHRND):c.361G>C (p.Gly121Arg) rs752699014
NM_000751.3(CHRND):c.364T>C (p.Ser122Pro)
NM_000751.3(CHRND):c.369C>G (p.Phe123Leu)
NM_000751.3(CHRND):c.36del (p.Ala13fs)
NM_000751.3(CHRND):c.378C>T (p.Ser126=)
NM_000751.3(CHRND):c.385T>C (p.Cys129Arg)
NM_000751.3(CHRND):c.389A>G (p.Asn130Ser) rs1553574327
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile) rs1553574327
NM_000751.3(CHRND):c.391G>A (p.Val131Met) rs755141289
NM_000751.3(CHRND):c.391G>C (p.Val131Leu)
NM_000751.3(CHRND):c.409G>A (p.Gly137Ser)
NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)
NM_000751.3(CHRND):c.42G>C (p.Leu14=) rs746207666
NM_000751.3(CHRND):c.440T>C (p.Phe147Ser)
NM_000751.3(CHRND):c.443G>A (p.Arg148His)
NM_000751.3(CHRND):c.449C>G (p.Ser150Cys) rs1441233980
NM_000751.3(CHRND):c.461C>T (p.Ser154Phe) rs2106208649
NM_000751.3(CHRND):c.468C>G (p.Thr156=)
NM_000751.3(CHRND):c.481G>A (p.Asp161Asn)
NM_000751.3(CHRND):c.492C>G (p.Asn164Lys)
NM_000751.3(CHRND):c.494G>T (p.Cys165Phe) rs1258523257
NM_000751.3(CHRND):c.509+11T>C
NM_000751.3(CHRND):c.509+18G>A
NM_000751.3(CHRND):c.510-16C>G
NM_000751.3(CHRND):c.510-17C>A
NM_000751.3(CHRND):c.513C>T (p.Ser171=) rs2106208903
NM_000751.3(CHRND):c.52+15C>A
NM_000751.3(CHRND):c.52+18C>A
NM_000751.3(CHRND):c.52+18C>G
NM_000751.3(CHRND):c.52+6G>A rs1301307735
NM_000751.3(CHRND):c.520T>C (p.Tyr174His)
NM_000751.3(CHRND):c.521_524dup (p.Ala176fs) rs1574630951
NM_000751.3(CHRND):c.528C>T (p.Ala176=)
NM_000751.3(CHRND):c.529A>G (p.Lys177Glu) rs1691581371
NM_000751.3(CHRND):c.53-15G>A
NM_000751.3(CHRND):c.536T>C (p.Ile179Thr)
NM_000751.3(CHRND):c.543G>T (p.Leu181=)
NM_000751.3(CHRND):c.549G>A (p.Leu183=)
NM_000751.3(CHRND):c.570C>G (p.Asn190Lys) rs768218659
NM_000751.3(CHRND):c.571C>G (p.Arg191Gly)
NM_000751.3(CHRND):c.572G>A (p.Arg191His)
NM_000751.3(CHRND):c.582C>G (p.Pro194=) rs773089899
NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn) rs1691584182
NM_000751.3(CHRND):c.619+10del rs2106209037
NM_000751.3(CHRND):c.619+15C>T
NM_000751.3(CHRND):c.619+16G>A
NM_000751.3(CHRND):c.619+16G>C
NM_000751.3(CHRND):c.619+16G>T rs753490642
NM_000751.3(CHRND):c.620-3C>G rs1691619642
NM_000751.3(CHRND):c.620-3C>T
NM_000751.3(CHRND):c.625G>A (p.Gly209Arg) rs766740341
NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)
NM_000751.3(CHRND):c.641T>C (p.Val214Ala) rs1691620619
NM_000751.3(CHRND):c.650C>T (p.Pro217Leu) rs149439815
NM_000751.3(CHRND):c.658G>A (p.Val220Ile)
NM_000751.3(CHRND):c.663C>T (p.Asn221=)
NM_000751.3(CHRND):c.664G>A (p.Val222Met)
NM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs)
NM_000751.3(CHRND):c.68A>T (p.Asn23Ile) rs1691474796
NM_000751.3(CHRND):c.691C>T (p.Pro231Ser)
NM_000751.3(CHRND):c.709A>T (p.Thr237Ser)
NM_000751.3(CHRND):c.710C>T (p.Thr237Ile)
NM_000751.3(CHRND):c.713_715del (p.Phe238del) rs2106210087
NM_000751.3(CHRND):c.718C>T (p.Leu240Phe)
NM_000751.3(CHRND):c.720C>A (p.Leu240=) rs935801687
NM_000751.3(CHRND):c.725T>C (p.Ile242Thr)
NM_000751.3(CHRND):c.726C>T (p.Ile242=) rs1335079963
NM_000751.3(CHRND):c.731G>A (p.Arg244His)
NM_000751.3(CHRND):c.736C>T (p.Pro246Ser)
NM_000751.3(CHRND):c.738C>G (p.Pro246=)
NM_000751.3(CHRND):c.772G>A (p.Val258Met)
NM_000751.3(CHRND):c.784_786del (p.Phe262del)
NM_000751.3(CHRND):c.79C>T (p.Arg27Trp)
NM_000751.3(CHRND):c.820+13G>A rs763880179
NM_000751.3(CHRND):c.820+13G>T
NM_000751.3(CHRND):c.820+17C>G
NM_000751.3(CHRND):c.820+17C>T
NM_000751.3(CHRND):c.820+5G>A
NM_000751.3(CHRND):c.820_820+1del rs879255564
NM_000751.3(CHRND):c.821-19C>T
NM_000751.3(CHRND):c.821-5C>A
NM_000751.3(CHRND):c.822T>G (p.Ser274Arg)
NM_000751.3(CHRND):c.839T>C (p.Val280Ala)
NM_000751.3(CHRND):c.859G>T (p.Ala287Ser) rs1691690683
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) rs121909502
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) rs1574633904
NM_000751.3(CHRND):c.888C>T (p.Ser296=) rs2106211370
NM_000751.3(CHRND):c.88del (p.Arg30fs) rs1266948051
NM_000751.3(CHRND):c.904A>C (p.Thr302Pro) rs561839978
NM_000751.3(CHRND):c.912G>A (p.Met304Ile)
NM_000751.3(CHRND):c.921C>T (p.Pro307=) rs1691694178
NM_000751.3(CHRND):c.929G>A (p.Gly310Asp)
NM_000751.3(CHRND):c.932+17C>A
NM_000751.3(CHRND):c.932+2T>A
NM_000751.3(CHRND):c.932+5G>T
NM_000751.3(CHRND):c.933-19G>A
NM_000751.3(CHRND):c.933-6C>G
NM_000751.3(CHRND):c.933-7C>T
NM_000751.3(CHRND):c.938T>C (p.Leu313Pro)
NM_000751.3(CHRND):c.954G>C (p.Val318=)
NM_000751.3(CHRND):c.956T>C (p.Leu319Pro) rs1553575093
NM_000751.3(CHRND):c.962C>A (p.Thr321Asn) rs776316455
NM_000751.3(CHRND):c.967G>T (p.Val323Phe)
NM_000751.3(CHRND):c.96G>T (p.Leu32=) rs1574627606
NM_000751.3(CHRND):c.982G>T (p.Val328Phe)
NM_000751.3(CHRND):c.983T>A (p.Val328Asp) rs2106211615
NM_000751.3(CHRND):c.987C>T (p.Ile329=)
NM_000751.3(CHRND):c.991C>T (p.Leu331Phe) rs1292476417
NM_000751.3(CHRND):c.993C>T (p.Leu331=)
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.1062G>A (p.Leu354=)
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)
NM_001018113.3(FANCB):c.1068A>G (p.Ser356=)
NM_001018113.3(FANCB):c.1080G>A (p.Thr360=)
NM_001018113.3(FANCB):c.1080G>C (p.Thr360=) rs754983238
NM_001018113.3(FANCB):c.1104+10A>G
NM_001018113.3(FANCB):c.1104+11T>C
NM_001018113.3(FANCB):c.1104+18A>C
NM_001018113.3(FANCB):c.1104+20T>G
NM_001018113.3(FANCB):c.1104+20_1104+22del
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
NM_001018113.3(FANCB):c.1105-16T>A
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[5] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1105-5A>G
NM_001018113.3(FANCB):c.1105-7T>G
NM_001018113.3(FANCB):c.1105-9A>T
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
NM_001018113.3(FANCB):c.1110A>G (p.Glu370=)
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.1134C>T (p.Asp378=)
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
NM_001018113.3(FANCB):c.1167G>T (p.Leu389=)
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
NM_001018113.3(FANCB):c.1182A>G (p.Leu394=)
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
NM_001018113.3(FANCB):c.1191A>G (p.Gly397=) rs2147424764
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
NM_001018113.3(FANCB):c.1197+10T>C
NM_001018113.3(FANCB):c.1197+11G>A rs2147424729
NM_001018113.3(FANCB):c.1197+13_1197+15del rs2147424707
NM_001018113.3(FANCB):c.1197+19_1197+21del rs755825913
NM_001018113.3(FANCB):c.1197+8T>C
NM_001018113.3(FANCB):c.1198-3C>T
NM_001018113.3(FANCB):c.1212T>G (p.Ser404=)
NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=)
NM_001018113.3(FANCB):c.123C>T (p.Pro41=)
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
NM_001018113.3(FANCB):c.1251A>G (p.Lys417=)
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
NM_001018113.3(FANCB):c.1257T>C (p.Ile419=) rs1601989714
NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=)
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.1326+13A>G
NM_001018113.3(FANCB):c.1326+13_1326+14del
NM_001018113.3(FANCB):c.1326+16T>C rs747443650
NM_001018113.3(FANCB):c.1326+18A>G
NM_001018113.3(FANCB):c.1326+7G>C
NM_001018113.3(FANCB):c.1326+7del
NM_001018113.3(FANCB):c.1327-10T>A
NM_001018113.3(FANCB):c.1327-12dup rs202067682
NM_001018113.3(FANCB):c.1327-17T>G
NM_001018113.3(FANCB):c.1327-19_1327-16del rs766440560
NM_001018113.3(FANCB):c.1327-3del rs202067682
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.1373A>G (p.His458Arg)
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.1428G>A (p.Glu476=)
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter) rs2147404831
NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=)
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.1496+10T>C
NM_001018113.3(FANCB):c.1496+14A>G
NM_001018113.3(FANCB):c.1496+16C>A
NM_001018113.3(FANCB):c.1496+18dup
NM_001018113.3(FANCB):c.1496+19_1496+21del
NM_001018113.3(FANCB):c.1496+8A>T
NM_001018113.3(FANCB):c.1497-12G>T
NM_001018113.3(FANCB):c.1497-18del
NM_001018113.3(FANCB):c.1497-20A>G
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.1521A>G (p.Ser507=)
NM_001018113.3(FANCB):c.1521A>T (p.Ser507=)
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
NM_001018113.3(FANCB):c.153C>T (p.Asp51=)
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) rs1555904475
NM_001018113.3(FANCB):c.1542T>C (p.His514=)
NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)
NM_001018113.3(FANCB):c.1563A>G (p.Leu521=)
NM_001018113.3(FANCB):c.1566G>A (p.Lys522=) rs2092371545
NM_001018113.3(FANCB):c.1569T>C (p.Cys523=)
NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser)
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
NM_001018113.3(FANCB):c.1581G>T (p.Val527=)
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) rs1555904458
NM_001018113.3(FANCB):c.1611A>G (p.Ala537=)
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg) rs2147391147
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)
NM_001018113.3(FANCB):c.1620G>A (p.Leu540=)
NM_001018113.3(FANCB):c.1626A>G (p.Pro542=) rs1277532078
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.1683G>A (p.Glu561=)
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr) rs5935815
NM_001018113.3(FANCB):c.1701A>G (p.Glu567=)
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro) rs2092370560
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
NM_001018113.3(FANCB):c.171T>C (p.Phe57=)
NM_001018113.3(FANCB):c.1725A>G (p.Val575=)
NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu)
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.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.177G>A (p.Gln59=) rs1602006672
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)
NM_001018113.3(FANCB):c.1788T>C (p.Thr596=)
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=) rs2147390430
NM_001018113.3(FANCB):c.1818T>C (p.Ser606=)
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.1872A>C (p.Leu624=)
NM_001018113.3(FANCB):c.1887T>G (p.Thr629=)
NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)
NM_001018113.3(FANCB):c.1927+13G>C
NM_001018113.3(FANCB):c.1927+16C>T
NM_001018113.3(FANCB):c.1927+8T>A
NM_001018113.3(FANCB):c.1927+9del
NM_001018113.3(FANCB):c.1928-5del
NM_001018113.3(FANCB):c.1928-5dup
NM_001018113.3(FANCB):c.1928-6_1928-5del
NM_001018113.3(FANCB):c.192T>C (p.Phe64=)
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
NM_001018113.3(FANCB):c.1950A>G (p.Ala650=)
NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg) rs2092368529
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.1992A>T (p.Ser664=) rs2147389619
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.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.207A>G (p.Glu69=)
NM_001018113.3(FANCB):c.2091G>A (p.Pro697=)
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)
NM_001018113.3(FANCB):c.2100C>T (p.Phe700=)
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser) rs2092367669
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=) rs1555904303
NM_001018113.3(FANCB):c.2112C>T (p.Leu704=)
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) rs1060501875
NM_001018113.3(FANCB):c.2136A>G (p.Pro712=)
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
NM_001018113.3(FANCB):c.2139C>T (p.Phe713=)
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys) rs868748586
NM_001018113.3(FANCB):c.2142A>G (p.Glu714=) rs2147389159
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met) rs2092367373
NM_001018113.3(FANCB):c.2165+12T>G
NM_001018113.3(FANCB):c.2165+18G>A
NM_001018113.3(FANCB):c.2165+18G>T
NM_001018113.3(FANCB):c.2165+6G>A
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)
NM_001018113.3(FANCB):c.2166-14T>C
NM_001018113.3(FANCB):c.2166-15_2166-12del
NM_001018113.3(FANCB):c.2166-8del
NM_001018113.3(FANCB):c.2166-9T>C rs2147387583
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser) rs1300715683
NM_001018113.3(FANCB):c.2190C>T (p.Cys730=)
NM_001018113.3(FANCB):c.2193T>G (p.Leu731=) rs2147387445
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.2214C>A (p.Leu738=)
NM_001018113.3(FANCB):c.2214C>G (p.Leu738=)
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)
NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)
NM_001018113.3(FANCB):c.2229C>T (p.Phe743=)
NM_001018113.3(FANCB):c.2238T>C (p.Asn746=)
NM_001018113.3(FANCB):c.2241A>C (p.Leu747=) rs2147387279
NM_001018113.3(FANCB):c.2244A>G (p.Lys748=)
NM_001018113.3(FANCB):c.2271T>C (p.Asp757=)
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val)
NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)
NM_001018113.3(FANCB):c.2280A>T (p.Ala760=)
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
NM_001018113.3(FANCB):c.2299C>T (p.Leu767=)
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
NM_001018113.3(FANCB):c.2301A>G (p.Leu767=)
NM_001018113.3(FANCB):c.2322T>G (p.Ser774=)
NM_001018113.3(FANCB):c.2328C>T (p.Ala776=)
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.2340T>C (p.His780=)
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val)
NM_001018113.3(FANCB):c.2359A>C (p.Arg787=)
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018113.3(FANCB):c.2361G>A (p.Arg787=)
NM_001018113.3(FANCB):c.2370G>A (p.Val790=)
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) rs2147386876
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) rs2092363086
NM_001018113.3(FANCB):c.2391C>G (p.Val797=) rs778731279
NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)
NM_001018113.3(FANCB):c.2397G>A (p.Ala799=)
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)
NM_001018113.3(FANCB):c.2404T>C (p.Leu802=)
NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)
NM_001018113.3(FANCB):c.2415A>G (p.Arg805=)
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr) rs2147386628
NM_001018113.3(FANCB):c.2433C>G (p.Pro811=) rs2147386620
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser) rs748392793
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=)
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.2496T>A (p.Gly832=)
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
NM_001018113.3(FANCB):c.2520G>A (p.Leu840=)
NM_001018113.3(FANCB):c.2526A>T (p.Val842=)
NM_001018113.3(FANCB):c.2539T>C (p.Leu847=)
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu) rs759020755
NM_001018113.3(FANCB):c.2556T>C (p.Ala852=)
NM_001018113.3(FANCB):c.2562G>A (p.Gln854=)
NM_001018113.3(FANCB):c.2565A>G (p.Lys855=)
NM_001018113.3(FANCB):c.2575T>C (p.Leu859=)
NM_001018113.3(FANCB):c.2577A>G (p.Leu859=)
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
NM_001018113.3(FANCB):c.273C>T (p.Leu91=)
NM_001018113.3(FANCB):c.291A>G (p.Glu97=)
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu) rs2092464184
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
NM_001018113.3(FANCB):c.300A>G (p.Lys100=)
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.30C>T (p.Asn10=)
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
NM_001018113.3(FANCB):c.339C>T (p.His113=)
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile)
NM_001018113.3(FANCB):c.372T>C (p.Phe124=)
NM_001018113.3(FANCB):c.376C>T (p.Leu126=) rs1602006225
NM_001018113.3(FANCB):c.378A>G (p.Leu126=)
NM_001018113.3(FANCB):c.381C>T (p.Gly127=)
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)
NM_001018113.3(FANCB):c.408C>T (p.Val136=)
NM_001018113.3(FANCB):c.417C>A (p.Gly139=)
NM_001018113.3(FANCB):c.417C>G (p.Gly139=)
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.447A>G (p.Ala149=)
NM_001018113.3(FANCB):c.447A>T (p.Ala149=)
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu) rs2092463362
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
NM_001018113.3(FANCB):c.468A>G (p.Gln156=)
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
NM_001018113.3(FANCB):c.480T>A (p.Val160=)
NM_001018113.3(FANCB):c.483T>C (p.Val161=)
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.501T>C (p.Phe167=)
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.560A>G (p.Lys187Arg)
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr) rs2147446437
NM_001018113.3(FANCB):c.591T>G (p.Thr197=)
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.603A>C (p.Ser201=)
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
NM_001018113.3(FANCB):c.615T>C (p.Tyr205=)
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.666A>G (p.Val222=)
NM_001018113.3(FANCB):c.681C>T (p.Tyr227=)
NM_001018113.3(FANCB):c.699C>T (p.Tyr233=)
NM_001018113.3(FANCB):c.702C>T (p.Ser234=)
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.708G>A (p.Val236=) rs2147445876
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) rs1555907444
NM_001018113.3(FANCB):c.720A>G (p.Val240=)
NM_001018113.3(FANCB):c.722A>G (p.His241Arg) rs2147445804
NM_001018113.3(FANCB):c.735T>C (p.Thr245=)
NM_001018113.3(FANCB):c.744C>A (p.Ile248=)
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
NM_001018113.3(FANCB):c.774C>G (p.Ala258=) rs1168908937
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001018113.3(FANCB):c.795G>A (p.Leu265=)
NM_001018113.3(FANCB):c.795G>T (p.Leu265=)
NM_001018113.3(FANCB):c.834G>C (p.Gln278His) rs1569092087
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
NM_001018113.3(FANCB):c.852T>C (p.Pro284=)
NM_001018113.3(FANCB):c.864A>G (p.Gln288=)
NM_001018113.3(FANCB):c.876A>G (p.Ser292=)
NM_001018113.3(FANCB):c.885A>G (p.Gly295=) rs1477082234
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)
NM_001018113.3(FANCB):c.906C>T (p.Ser302=)
NM_001018113.3(FANCB):c.93T>C (p.Asn31=)
NM_001018113.3(FANCB):c.951+13T>C
NM_001018113.3(FANCB):c.951+19T>C
NM_001018113.3(FANCB):c.951+7C>T
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.952-14T>C
NM_001018113.3(FANCB):c.952-16G>A
NM_001018113.3(FANCB):c.952-19A>G
NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln)
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) rs1456143136
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
NM_001018113.3(FANCB):c.987G>C (p.Leu329=)
NM_001018113.3(FANCB):c.990A>T (p.Ile330=) rs2147429139
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
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.1018C>T (p.Gln340Ter)
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
NM_001018115.3(FANCD2):c.1020G>A (p.Gln340=)
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.1044T>C (p.Asp348=)
NM_001018115.3(FANCD2):c.1053G>A (p.Lys351=)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
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+16C>G
NM_001018115.3(FANCD2):c.1098+16C>T
NM_001018115.3(FANCD2):c.1098+17T>A
NM_001018115.3(FANCD2):c.1098+19T>C
NM_001018115.3(FANCD2):c.1098+20_1098+23del
NM_001018115.3(FANCD2):c.1098+2T>A
NM_001018115.3(FANCD2):c.1099-6T>G rs759324309
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
NM_001018115.3(FANCD2):c.111T>C (p.Ile37=)
NM_001018115.3(FANCD2):c.1128A>G (p.Glu376=)
NM_001018115.3(FANCD2):c.1134+10A>C
NM_001018115.3(FANCD2):c.1134+1G>A
NM_001018115.3(FANCD2):c.1135-6C>A rs2087017963
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala) rs1006403887
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser) rs765339192
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys) rs2086637443
NM_001018115.3(FANCD2):c.1200C>T (p.Asp400=) rs755295382
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer) rs2125000318
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val) rs753223864
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln) rs370522983
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
NM_001018115.3(FANCD2):c.1278+2dup rs1553608861
NM_001018115.3(FANCD2):c.1279-3A>T rs1354341272
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile) rs529893298
NM_001018115.3(FANCD2):c.1311G>T (p.Ser437=) rs564577177
NM_001018115.3(FANCD2):c.1335T>C (p.Ser445=) rs1575759741
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>C rs1459222478
NM_001018115.3(FANCD2):c.1413+8G>A rs2087079196
NM_001018115.3(FANCD2):c.1414-9C>T rs35557429
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg) rs2087129366
NM_001018115.3(FANCD2):c.144T>C (p.Phe48=) rs750534583
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly) rs780343756
NM_001018115.3(FANCD2):c.1470T>C (p.Asp490=) rs567183176
NM_001018115.3(FANCD2):c.150G>A (p.Lys50=)
NM_001018115.3(FANCD2):c.1546-1G>A
NM_001018115.3(FANCD2):c.1546-6C>T
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>C (p.Asp519His)
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1577dup (p.Gln527fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1596C>A (p.Leu532=)
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.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser) rs765324038
NM_001018115.3(FANCD2):c.1626C>T (p.Ser542=)
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
NM_001018115.3(FANCD2):c.1653C>T (p.Ile551=)
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
NM_001018115.3(FANCD2):c.1656+10A>C rs2087247708
NM_001018115.3(FANCD2):c.1656+1G>A
NM_001018115.3(FANCD2):c.1656+7G>A
NM_001018115.3(FANCD2):c.1657-12A>T
NM_001018115.3(FANCD2):c.1657-12_1657-10del
NM_001018115.3(FANCD2):c.1657-16C>G rs1335826866
NM_001018115.3(FANCD2):c.1657-18T>G
NM_001018115.3(FANCD2):c.1657-5T>G rs2125026589
NM_001018115.3(FANCD2):c.1659T>C (p.Asp553=)
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
NM_001018115.3(FANCD2):c.1668C>T (p.His556=) rs2125026611
NM_001018115.3(FANCD2):c.1678A>C (p.Arg560=)
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1689C>G (p.Leu563=)
NM_001018115.3(FANCD2):c.1689C>T (p.Leu563=) rs1281020807
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr) rs2087530880
NM_001018115.3(FANCD2):c.1734T>C (p.Ala578=)
NM_001018115.3(FANCD2):c.174T>A (p.Ile58=)
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+13A>G
NM_001018115.3(FANCD2):c.1766+15T>G
NM_001018115.3(FANCD2):c.1766+17T>C
NM_001018115.3(FANCD2):c.1766+19A>G
NM_001018115.3(FANCD2):c.1766+1G>A
NM_001018115.3(FANCD2):c.1766+4C>G
NM_001018115.3(FANCD2):c.1766+4C>T
NM_001018115.3(FANCD2):c.1766+7G>T
NM_001018115.3(FANCD2):c.1767-10T>C
NM_001018115.3(FANCD2):c.1788C>G (p.Thr596=)
NM_001018115.3(FANCD2):c.1794G>A (p.Glu598=)
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.1809C>T (p.Ser603=)
NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)
NM_001018115.3(FANCD2):c.1815G>A (p.Glu605=)
NM_001018115.3(FANCD2):c.1821C>T (p.Cys607=) rs2087590153
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter) rs1247410343
NM_001018115.3(FANCD2):c.1827+15del
NM_001018115.3(FANCD2):c.1827+15dup
NM_001018115.3(FANCD2):c.1828-11C>T
NM_001018115.3(FANCD2):c.1828-12T>G
NM_001018115.3(FANCD2):c.1828-18T>C
NM_001018115.3(FANCD2):c.1828-20A>C
NM_001018115.3(FANCD2):c.1837T>C (p.Leu613=) rs2125032558
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
NM_001018115.3(FANCD2):c.1839G>A (p.Leu613=)
NM_001018115.3(FANCD2):c.183G>T (p.Thr61=) rs771445756
NM_001018115.3(FANCD2):c.1854T>C (p.His618=)
NM_001018115.3(FANCD2):c.1863T>C (p.Ser621=)
NM_001018115.3(FANCD2):c.1866G>A (p.Glu622=)
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
NM_001018115.3(FANCD2):c.186A>G (p.Gly62=)
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001018115.3(FANCD2):c.1917C>T (p.Ile639=)
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg) rs750353000
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs) rs1221526082
NM_001018115.3(FANCD2):c.1938A>G (p.Pro646=)
NM_001018115.3(FANCD2):c.1945C>T (p.Leu649=)
NM_001018115.3(FANCD2):c.1947+14T>G
NM_001018115.3(FANCD2):c.1947+1G>A
NM_001018115.3(FANCD2):c.1947+3A>G
NM_001018115.3(FANCD2):c.1947+6G>A
NM_001018115.3(FANCD2):c.1947+7C>T
NM_001018115.3(FANCD2):c.1947+9A>G
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.1948-15G>C
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.1956del (p.His654fs)
NM_001018115.3(FANCD2):c.1965C>G (p.Thr655=)
NM_001018115.3(FANCD2):c.1989C>G (p.Ala663=) rs2087655199
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)
NM_001018115.3(FANCD2):c.2001C>T (p.Asp667=)
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.2020G>A (p.Gly674Ser)
NM_001018115.3(FANCD2):c.2021+15C>T rs2125034247
NM_001018115.3(FANCD2):c.2021+5G>A rs1243372102
NM_001018115.3(FANCD2):c.2022-4G>T rs748941966
NM_001018115.3(FANCD2):c.2022-5C>A
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2022-6C>T rs2125034948
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
NM_001018115.3(FANCD2):c.2025C>T (p.Asp675=)
NM_001018115.3(FANCD2):c.2028T>C (p.Phe676=)
NM_001018115.3(FANCD2):c.202C>T (p.Leu68=)
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) rs2087667280
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
NM_001018115.3(FANCD2):c.2049G>A (p.Leu683=) rs768608195
NM_001018115.3(FANCD2):c.205+16A>G
NM_001018115.3(FANCD2):c.205+1G>A rs2124970985
NM_001018115.3(FANCD2):c.205+4_205+6del
NM_001018115.3(FANCD2):c.2052C>T (p.Tyr684=) rs776906387
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
NM_001018115.3(FANCD2):c.206-14T>C
NM_001018115.3(FANCD2):c.206-15C>T
NM_001018115.3(FANCD2):c.206-18C>G
NM_001018115.3(FANCD2):c.206-4A>G
NM_001018115.3(FANCD2):c.206-5C>T
NM_001018115.3(FANCD2):c.206-6G>A rs1386251857
NM_001018115.3(FANCD2):c.206-9T>C
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr) rs2125035150
NM_001018115.3(FANCD2):c.2082G>T (p.Gly694=) rs1575792797
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.2097C>A (p.Leu699=)
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
NM_001018115.3(FANCD2):c.2103G>A (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
NM_001018115.3(FANCD2):c.2121C>T (p.Asp707=)
NM_001018115.3(FANCD2):c.2133T>C (p.Asp711=) rs2125035366
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
NM_001018115.3(FANCD2):c.2136G>A (p.Gly712=)
NM_001018115.3(FANCD2):c.2136G>C (p.Gly712=)
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
NM_001018115.3(FANCD2):c.2148C>T (p.Thr716=)
NM_001018115.3(FANCD2):c.2151A>G (p.Ser717=)
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
NM_001018115.3(FANCD2):c.2168+5G>C rs1237529867
NM_001018115.3(FANCD2):c.2168+9A>T
NM_001018115.3(FANCD2):c.2168+9del rs1364300331
NM_001018115.3(FANCD2):c.2168_2168+1delinsT rs2087674573
NM_001018115.3(FANCD2):c.2169-15A>G
NM_001018115.3(FANCD2):c.2169-17T>A
NM_001018115.3(FANCD2):c.2169-19A>T
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2169-6_2169-4del
NM_001018115.3(FANCD2):c.2169-9C>T
NM_001018115.3(FANCD2):c.216A>G (p.Gln72=)
NM_001018115.3(FANCD2):c.2188C>T (p.Leu730=)
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met) rs2124974577
NM_001018115.3(FANCD2):c.2205G>T (p.Arg735=) rs2125036460
NM_001018115.3(FANCD2):c.2214A>G (p.Arg738=) rs527711543
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
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.2253G>A (p.Glu751=) rs2125036589
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
NM_001018115.3(FANCD2):c.2259T>C (p.Asp753=)
NM_001018115.3(FANCD2):c.2266C>T (p.Leu756=)
NM_001018115.3(FANCD2):c.2269+11_2269+12del
NM_001018115.3(FANCD2):c.2269+16A>G
NM_001018115.3(FANCD2):c.2269+16A>T
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2269+20G>C rs2087695350
NM_001018115.3(FANCD2):c.2269+9T>G
NM_001018115.3(FANCD2):c.2270-10T>C rs2125037080
NM_001018115.3(FANCD2):c.2270-1G>C
NM_001018115.3(FANCD2):c.2270-7C>T
NM_001018115.3(FANCD2):c.2270-9C>G
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu) rs2087705679
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2311T>C (p.Leu771=) rs1045809342
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His) rs377083479
NM_001018115.3(FANCD2):c.2340A>G (p.Ser780=)
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val) rs779740652
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met) rs2087707764
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs) rs2124974621
NM_001018115.3(FANCD2):c.2367T>G (p.Thr789=)
NM_001018115.3(FANCD2):c.2373C>T (p.Asn791=) rs1575795387
NM_001018115.3(FANCD2):c.237C>G (p.Leu79=)
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
NM_001018115.3(FANCD2):c.2385+6C>T
NM_001018115.3(FANCD2):c.2385+8G>T
NM_001018115.3(FANCD2):c.2386-11G>A
NM_001018115.3(FANCD2):c.2386-5T>C
NM_001018115.3(FANCD2):c.2386-9A>G
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.2397C>A (p.Ala799=)
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter) rs1374735618
NM_001018115.3(FANCD2):c.2406G>A (p.Gln802=)
NM_001018115.3(FANCD2):c.2412A>G (p.Thr804=)
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu) rs375415579
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
NM_001018115.3(FANCD2):c.2436G>A (p.Val812=)
NM_001018115.3(FANCD2):c.2442T>C (p.Thr814=)
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val) rs2125039040
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
NM_001018115.3(FANCD2):c.2451G>A (p.Lys817=)
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
NM_001018115.3(FANCD2):c.2464T>C (p.Leu822=)
NM_001018115.3(FANCD2):c.2472A>C (p.Ile824=)
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
NM_001018115.3(FANCD2):c.2490G>A (p.Leu830=)
NM_001018115.3(FANCD2):c.2494+10G>A
NM_001018115.3(FANCD2):c.2494+11T>A
NM_001018115.3(FANCD2):c.2494+13T>C
NM_001018115.3(FANCD2):c.2494+18T>G
NM_001018115.3(FANCD2):c.2495-13C>T
NM_001018115.3(FANCD2):c.2495-14G>A
NM_001018115.3(FANCD2):c.2495-16C>T
NM_001018115.3(FANCD2):c.2495-18G>C
NM_001018115.3(FANCD2):c.2495-2A>G
NM_001018115.3(FANCD2):c.2495-3C>A rs2125047914
NM_001018115.3(FANCD2):c.2495-4T>G rs1553612428
NM_001018115.3(FANCD2):c.2495-7G>A
NM_001018115.3(FANCD2):c.2496C>T (p.Val832=)
NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)
NM_001018115.3(FANCD2):c.249G>C (p.Leu83=) rs2086682680
NM_001018115.3(FANCD2):c.2502A>G (p.Pro834=)
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
NM_001018115.3(FANCD2):c.2508T>C (p.Tyr836=)
NM_001018115.3(FANCD2):c.2511C>A (p.Val837=)
NM_001018115.3(FANCD2):c.2511C>G (p.Val837=)
NM_001018115.3(FANCD2):c.2514T>G (p.Pro838=)
NM_001018115.3(FANCD2):c.2544A>G (p.Leu848=)
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu) rs375827113
NM_001018115.3(FANCD2):c.2556T>C (p.Pro852=)
NM_001018115.3(FANCD2):c.2562T>C (p.Thr854=)
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del) rs1693335762
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+12C>A
NM_001018115.3(FANCD2):c.2605+25_2605+29del rs1278623181
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2605+8T>C
NM_001018115.3(FANCD2):c.2605+9G>A
NM_001018115.3(FANCD2):c.2606-11del
NM_001018115.3(FANCD2):c.2606-12_2606-11del rs754006641
NM_001018115.3(FANCD2):c.2606-15T>C rs2125048406
NM_001018115.3(FANCD2):c.2606-16C>G
NM_001018115.3(FANCD2):c.2606-18C>T rs1693351182
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.2622A>G (p.Thr874=)
NM_001018115.3(FANCD2):c.2625T>C (p.Asp875=)
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
NM_001018115.3(FANCD2):c.2640C>G (p.Ser880=)
NM_001018115.3(FANCD2):c.2652A>G (p.Thr884=)
NM_001018115.3(FANCD2):c.2667A>G (p.Lys889=)
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser) rs1693355244
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
NM_001018115.3(FANCD2):c.2691A>C (p.Pro897=)
NM_001018115.3(FANCD2):c.2691A>G (p.Pro897=)
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys) rs1693356065
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
NM_001018115.3(FANCD2):c.2697T>C (p.His899=)
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg) rs766865689
NM_001018115.3(FANCD2):c.2715+10T>G
NM_001018115.3(FANCD2):c.2715+11G>A
NM_001018115.3(FANCD2):c.2715+11G>T
NM_001018115.3(FANCD2):c.2715+16del
NM_001018115.3(FANCD2):c.2715+17T>G
NM_001018115.3(FANCD2):c.2716-12A>G
NM_001018115.3(FANCD2):c.2716-13G>A
NM_001018115.3(FANCD2):c.2716-9T>A
NM_001018115.3(FANCD2):c.2716-9T>G rs760325562
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
NM_001018115.3(FANCD2):c.2724A>G (p.Thr908=)
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
NM_001018115.3(FANCD2):c.2727G>A (p.Gly909=)
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu) rs1693428697
NM_001018115.3(FANCD2):c.273+12del rs758809407
NM_001018115.3(FANCD2):c.273+15C>T
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
NM_001018115.3(FANCD2):c.2739G>A (p.Lys913=) rs2125050010
NM_001018115.3(FANCD2):c.274-11del
NM_001018115.3(FANCD2):c.274-14del
NM_001018115.3(FANCD2):c.274-6C>A
NM_001018115.3(FANCD2):c.274-9C>G
NM_001018115.3(FANCD2):c.274-9C>T
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
NM_001018115.3(FANCD2):c.2742A>G (p.Thr914=)
NM_001018115.3(FANCD2):c.2745A>G (p.Ser915=)
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
NM_001018115.3(FANCD2):c.2769T>C (p.Ala923=)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
NM_001018115.3(FANCD2):c.2796C>T (p.Val932=)
NM_001018115.3(FANCD2):c.2799C>T (p.Phe933=)
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met) rs1559370542
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
NM_001018115.3(FANCD2):c.2811T>C (p.His937=)
NM_001018115.3(FANCD2):c.2814T>C (p.Cys938=) rs2125050162
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.2837T>G (p.Leu946Ter)
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.2854del (p.Thr952fs)
NM_001018115.3(FANCD2):c.2859+11G>A
NM_001018115.3(FANCD2):c.2859+11G>T
NM_001018115.3(FANCD2):c.2859+12G>A rs2125050262
NM_001018115.3(FANCD2):c.2859+14T>G
NM_001018115.3(FANCD2):c.2859+19T>C
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
NM_001018115.3(FANCD2):c.2860-10C>T
NM_001018115.3(FANCD2):c.2860-11C>T
NM_001018115.3(FANCD2):c.2860-4A>C rs2125054543
NM_001018115.3(FANCD2):c.2860-5G>A
NM_001018115.3(FANCD2):c.2860-8T>C
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.2886C>A (p.Pro962=)
NM_001018115.3(FANCD2):c.2886C>G (p.Pro962=)
NM_001018115.3(FANCD2):c.2886C>T (p.Pro962=)
NM_001018115.3(FANCD2):c.2889T>C (p.Pro963=)
NM_001018115.3(FANCD2):c.288T>C (p.Phe96=)
NM_001018115.3(FANCD2):c.2907G>A (p.Leu969=)
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
NM_001018115.3(FANCD2):c.2916C>T (p.Leu972=)
NM_001018115.3(FANCD2):c.2931G>A (p.Glu977=)
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.2943A>T (p.Thr981=)
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser) rs1051740558
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
NM_001018115.3(FANCD2):c.294T>C (p.Ser98=)
NM_001018115.3(FANCD2):c.2955C>T (p.Ala985=)
NM_001018115.3(FANCD2):c.2958G>A (p.Arg986=)
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
NM_001018115.3(FANCD2):c.2967C>G (p.Pro989=) rs2125054748
NM_001018115.3(FANCD2):c.2967C>T (p.Pro989=)
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val) rs1575817874
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
NM_001018115.3(FANCD2):c.2973C>G (p.Leu991=)
NM_001018115.3(FANCD2):c.2976+11G>A
NM_001018115.3(FANCD2):c.2976+12C>T
NM_001018115.3(FANCD2):c.2976+12del
NM_001018115.3(FANCD2):c.2976+15A>T rs2125054794
NM_001018115.3(FANCD2):c.2976+19A>G
NM_001018115.3(FANCD2):c.2976+19A>T
NM_001018115.3(FANCD2):c.2976+20T>C
NM_001018115.3(FANCD2):c.2976+23_2976+35del
NM_001018115.3(FANCD2):c.2976+7G>T
NM_001018115.3(FANCD2):c.2977-13G>T
NM_001018115.3(FANCD2):c.2977-14T>A rs2125059347
NM_001018115.3(FANCD2):c.2977-17C>G
NM_001018115.3(FANCD2):c.2977-17C>T
NM_001018115.3(FANCD2):c.2977-18A>C
NM_001018115.3(FANCD2):c.2977-4A>G
NM_001018115.3(FANCD2):c.2977-7A>G
NM_001018115.3(FANCD2):c.2978A>G (p.Asn993Ser)
NM_001018115.3(FANCD2):c.2979C>T (p.Asn993=)
NM_001018115.3(FANCD2):c.2985A>T (p.Gly995=) rs1575823725
NM_001018115.3(FANCD2):c.2988C>A (p.Ser996Arg)
NM_001018115.3(FANCD2):c.298C>T (p.Leu100=)
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.300G>A (p.Leu100=) rs2124975151
NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)
NM_001018115.3(FANCD2):c.3014A>G (p.Gln1005Arg) rs964376104
NM_001018115.3(FANCD2):c.3015A>G (p.Gln1005=)
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
NM_001018115.3(FANCD2):c.3020G>T (p.Arg1007Ile) rs901861823
NM_001018115.3(FANCD2):c.3021A>G (p.Arg1007=)
NM_001018115.3(FANCD2):c.3024T>C (p.Ser1008=)
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
NM_001018115.3(FANCD2):c.3039T>A (p.Val1013=)
NM_001018115.3(FANCD2):c.3043T>C (p.Cys1015Arg) rs2125059575
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
NM_001018115.3(FANCD2):c.3048T>G (p.Val1016=)
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.308_312del (p.Ser102_Tyr103insTer)
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
NM_001018115.3(FANCD2):c.3105+12A>G
NM_001018115.3(FANCD2):c.3106-13T>C
NM_001018115.3(FANCD2):c.3106-14A>C
NM_001018115.3(FANCD2):c.3106-14A>G
NM_001018115.3(FANCD2):c.3106-15C>A
NM_001018115.3(FANCD2):c.3106-15C>G
NM_001018115.3(FANCD2):c.3106-15C>T
NM_001018115.3(FANCD2):c.3106-19A>T
NM_001018115.3(FANCD2):c.3108T>C (p.Cys1036=)
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.3156_3157insGGAC (p.Gln1053fs)
NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg) rs1693827482
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs) rs2125060144
NM_001018115.3(FANCD2):c.3195G>A (p.Leu1065=)
NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)
NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)
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.3224+10T>C
NM_001018115.3(FANCD2):c.3224+11G>A
NM_001018115.3(FANCD2):c.3224+1G>C
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3224+7A>G
NM_001018115.3(FANCD2):c.3224+8T>C
NM_001018115.3(FANCD2):c.3225-10A>G
NM_001018115.3(FANCD2):c.3225-14C>G
NM_001018115.3(FANCD2):c.3225-16A>T
NM_001018115.3(FANCD2):c.3225-17T>C
NM_001018115.3(FANCD2):c.3225-4T>G
NM_001018115.3(FANCD2):c.3225-6_3225-3del
NM_001018115.3(FANCD2):c.3225-9C>T
NM_001018115.3(FANCD2):c.3240A>G (p.Gln1080=) rs1694161718
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
NM_001018115.3(FANCD2):c.3292C>T (p.Leu1098=)
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+11A>G
NM_001018115.3(FANCD2):c.3335+16A>G
NM_001018115.3(FANCD2):c.3335+19G>C
NM_001018115.3(FANCD2):c.3335+3G>A
NM_001018115.3(FANCD2):c.3335+8A>G
NM_001018115.3(FANCD2):c.3336-10C>G
NM_001018115.3(FANCD2):c.3336-4dup
NM_001018115.3(FANCD2):c.3336-8C>T
NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)
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.3354G>A (p.Leu1118=)
NM_001018115.3(FANCD2):c.3369A>G (p.Gln1123=)
NM_001018115.3(FANCD2):c.336C>T (p.Asn112=)
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
NM_001018115.3(FANCD2):c.3381T>C (p.Ser1127=)
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter) rs2125072527
NM_001018115.3(FANCD2):c.3393T>C (p.Ala1131=)
NM_001018115.3(FANCD2):c.3405C>T (p.Ile1135=)
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
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.3466+9C>T rs33998487
NM_001018115.3(FANCD2):c.3467-11T>G
NM_001018115.3(FANCD2):c.3467-12C>G
NM_001018115.3(FANCD2):c.3467-12_3467-10del
NM_001018115.3(FANCD2):c.3467-2A>G
NM_001018115.3(FANCD2):c.3467-3C>A rs1694370265
NM_001018115.3(FANCD2):c.3467-8T>G rs2125076487
NM_001018115.3(FANCD2):c.3468T>G (p.Ala1156=) rs2125076511
NM_001018115.3(FANCD2):c.3474T>C (p.Leu1158=)
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
NM_001018115.3(FANCD2):c.3489C>T (p.Leu1163=)
NM_001018115.3(FANCD2):c.348T>C (p.Ser116=)
NM_001018115.3(FANCD2):c.348T>G (p.Ser116=)
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
NM_001018115.3(FANCD2):c.3507T>G (p.Ser1169Arg) rs1373304921
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
NM_001018115.3(FANCD2):c.3528C>T (p.Asn1176=)
NM_001018115.3(FANCD2):c.3531C>A (p.Ile1177=)
NM_001018115.3(FANCD2):c.3531C>T (p.Ile1177=)
NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp) rs949980921
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter) rs1694376599
NM_001018115.3(FANCD2):c.3546C>T (p.Leu1182=) rs2125076733
NM_001018115.3(FANCD2):c.3551C>A (p.Ala1184Asp)
NM_001018115.3(FANCD2):c.3552T>A (p.Ala1184=)
NM_001018115.3(FANCD2):c.3552T>C (p.Ala1184=)
NM_001018115.3(FANCD2):c.3560+11T>C
NM_001018115.3(FANCD2):c.3560+13G>A
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.3561-13A>G
NM_001018115.3(FANCD2):c.3561-1del rs2125077559
NM_001018115.3(FANCD2):c.3561-9T>C
NM_001018115.3(FANCD2):c.3564C>T (p.Ile1188=)
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.3591G>A (p.Leu1197=)
NM_001018115.3(FANCD2):c.3594G>A (p.Lys1198=) rs1463556947
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367
NM_001018115.3(FANCD2):c.3615T>G (p.Gly1205=)
NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
NM_001018115.3(FANCD2):c.3623T>A (p.Val1208Asp)
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser) rs941244378
NM_001018115.3(FANCD2):c.3645T>G (p.Pro1215=)
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
NM_001018115.3(FANCD2):c.3660C>G (p.Ser1220=) rs1559404961
NM_001018115.3(FANCD2):c.3683+12C>A
NM_001018115.3(FANCD2):c.3683+17C>T
NM_001018115.3(FANCD2):c.3683+18T>C
NM_001018115.3(FANCD2):c.3683+5G>C
NM_001018115.3(FANCD2):c.3684-10C>T
NM_001018115.3(FANCD2):c.3684-12C>G
NM_001018115.3(FANCD2):c.3684-14T>C
NM_001018115.3(FANCD2):c.3684-18G>C
NM_001018115.3(FANCD2):c.3684-5T>C rs1262479173
NM_001018115.3(FANCD2):c.3684-9G>T
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
NM_001018115.3(FANCD2):c.3707G>T (p.Arg1236Leu)
NM_001018115.3(FANCD2):c.3716T>A (p.Met1239Lys) rs1694512844
NM_001018115.3(FANCD2):c.3723A>G (p.Glu1241=)
NM_001018115.3(FANCD2):c.3738G>A (p.Val1246=)
NM_001018115.3(FANCD2):c.3749_3777+789del rs2125081509
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
NM_001018115.3(FANCD2):c.3768C>T (p.Asp1256=)
NM_001018115.3(FANCD2):c.377+6G>A
NM_001018115.3(FANCD2):c.3771G>A (p.Ser1257=)
NM_001018115.3(FANCD2):c.3771G>T (p.Ser1257=)
NM_001018115.3(FANCD2):c.3777+16G>A
NM_001018115.3(FANCD2):c.3777+17T>A
NM_001018115.3(FANCD2):c.3777+5G>A rs368999017
NM_001018115.3(FANCD2):c.3777+8A>G
NM_001018115.3(FANCD2):c.3778-16T>A rs767539823
NM_001018115.3(FANCD2):c.3778-17del
NM_001018115.3(FANCD2):c.3778-19A>C
NM_001018115.3(FANCD2):c.3778-19A>G
NM_001018115.3(FANCD2):c.378-3C>T rs74923817
NM_001018115.3(FANCD2):c.378-5T>C
NM_001018115.3(FANCD2):c.378-9T>A
NM_001018115.3(FANCD2):c.3792A>G (p.Lys1264=)
NM_001018115.3(FANCD2):c.3793C>T (p.Leu1265Phe) rs749410557
NM_001018115.3(FANCD2):c.3798C>G (p.Leu1266=)
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)
NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)
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+12G>A
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
NM_001018115.3(FANCD2):c.3849+16G>A rs767163581
NM_001018115.3(FANCD2):c.3849+1G>A
NM_001018115.3(FANCD2):c.3849+1G>T
NM_001018115.3(FANCD2):c.3850-10A>C
NM_001018115.3(FANCD2):c.3850-10A>G
NM_001018115.3(FANCD2):c.3850-15C>T
NM_001018115.3(FANCD2):c.3850-6C>A
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.3879A>T (p.Val1293=) rs2125088663
NM_001018115.3(FANCD2):c.3883T>C (p.Leu1295=)
NM_001018115.3(FANCD2):c.3888+16G>C
NM_001018115.3(FANCD2):c.3888+18C>T
NM_001018115.3(FANCD2):c.3888+5G>A
NM_001018115.3(FANCD2):c.3888+7G>C rs1482801348
NM_001018115.3(FANCD2):c.3888+7G>T
NM_001018115.3(FANCD2):c.3889-16T>C
NM_001018115.3(FANCD2):c.3889-1G>A
NM_001018115.3(FANCD2):c.3889-20A>T rs2125090552
NM_001018115.3(FANCD2):c.3889-20_3889-19del
NM_001018115.3(FANCD2):c.3889-8T>C
NM_001018115.3(FANCD2):c.3891T>C (p.Tyr1297=)
NM_001018115.3(FANCD2):c.3894G>A (p.Gly1298=)
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
NM_001018115.3(FANCD2):c.3900C>A (p.Leu1300=)
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3924A>G (p.Gln1308=)
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.3963+10A>G
NM_001018115.3(FANCD2):c.3963+14G>A
NM_001018115.3(FANCD2):c.3963+15C>T
NM_001018115.3(FANCD2):c.3963+16A>T
NM_001018115.3(FANCD2):c.3963+19G>A rs2125090870
NM_001018115.3(FANCD2):c.3963_3963+1inv
NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)
NM_001018115.3(FANCD2):c.3972T>C (p.Val1324=)
NM_001018115.3(FANCD2):c.3981A>G (p.Leu1327=)
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
NM_001018115.3(FANCD2):c.3999G>A (p.Leu1333=) rs1694883609
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro) rs1559408827
NM_001018115.3(FANCD2):c.4021C>T (p.Leu1341=)
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
NM_001018115.3(FANCD2):c.4038+10_4038+11dup
NM_001018115.3(FANCD2):c.4038+11G>C
NM_001018115.3(FANCD2):c.4038+12A>G
NM_001018115.3(FANCD2):c.4038+20C>T
NM_001018115.3(FANCD2):c.4038+2T>G
NM_001018115.3(FANCD2):c.4039-12A>G
NM_001018115.3(FANCD2):c.4039-2A>G
NM_001018115.3(FANCD2):c.4059C>T (p.Leu1353=)
NM_001018115.3(FANCD2):c.405C>T (p.Leu135=)
NM_001018115.3(FANCD2):c.4062C>G (p.Thr1354=)
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
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.4128T>C (p.Thr1376=)
NM_001018115.3(FANCD2):c.4128_4131dup (p.Asn1378fs)
NM_001018115.3(FANCD2):c.412C>T (p.Leu138=)
NM_001018115.3(FANCD2):c.4131C>T (p.Leu1377=) rs2125095502
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.4140T>A (p.Cys1380Ter) rs954149471
NM_001018115.3(FANCD2):c.4161C>A (p.Gly1387=)
NM_001018115.3(FANCD2):c.4167A>G (p.Leu1389=) rs2125095618
NM_001018115.3(FANCD2):c.4171A>C (p.Asn1391His) rs1694972063
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
NM_001018115.3(FANCD2):c.4176G>A (p.Arg1392=)
NM_001018115.3(FANCD2):c.4185+10G>A
NM_001018115.3(FANCD2):c.4185+12A>T
NM_001018115.3(FANCD2):c.4185+5G>T rs2125095695
NM_001018115.3(FANCD2):c.4186-10T>G
NM_001018115.3(FANCD2):c.4186-11T>C
NM_001018115.3(FANCD2):c.4186-12A>G
NM_001018115.3(FANCD2):c.4186-14C>T rs1379128834
NM_001018115.3(FANCD2):c.4186-16G>A
NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)
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.4233G>A (p.Glu1411=)
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001018115.3(FANCD2):c.4239G>A (p.Glu1413=)
NM_001018115.3(FANCD2):c.4245C>T (p.Asp1415=)
NM_001018115.3(FANCD2):c.4254C>G (p.Ser1418=)
NM_001018115.3(FANCD2):c.4257G>A (p.Gln1419=)
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln) rs1695131902
NM_001018115.3(FANCD2):c.426T>A (p.Ile142=)
NM_001018115.3(FANCD2):c.4281+111A>G
NM_001018115.3(FANCD2):c.4281+132A>G
NM_001018115.3(FANCD2):c.4281+132A>T
NM_001018115.3(FANCD2):c.4281+16C>T rs1695133266
NM_001018115.3(FANCD2):c.4281+18A>G rs753560188
NM_001018115.3(FANCD2):c.4281+1del
NM_001018115.3(FANCD2):c.4281+58C>T
NM_001018115.3(FANCD2):c.4281+65G>A
NM_001018115.3(FANCD2):c.4281+72C>T
NM_001018115.3(FANCD2):c.4281+90T>C
NM_001018115.3(FANCD2):c.4281+96T>C
NM_001018115.3(FANCD2):c.4281+9A>G
NM_001018115.3(FANCD2):c.438+7C>A
NM_001018115.3(FANCD2):c.438+8dup rs2124976192
NM_001018115.3(FANCD2):c.438+9G>A
NM_001018115.3(FANCD2):c.438+9_438+10del
NM_001018115.3(FANCD2):c.439-14G>T rs778758088
NM_001018115.3(FANCD2):c.439-16A>C
NM_001018115.3(FANCD2):c.439-17T>G
NM_001018115.3(FANCD2):c.439-18C>G
NM_001018115.3(FANCD2):c.444C>G (p.Ala148=) rs2124978509
NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn) rs150444770
NM_001018115.3(FANCD2):c.456C>T (p.Thr152=)
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
NM_001018115.3(FANCD2):c.45C>T (p.Ser15=)
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
NM_001018115.3(FANCD2):c.477A>G (p.Glu159=)
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu) rs2086730814
NM_001018115.3(FANCD2):c.491+10G>C rs17032279
NM_001018115.3(FANCD2):c.491+11T>C
NM_001018115.3(FANCD2):c.491+19G>A
NM_001018115.3(FANCD2):c.491+19G>C
NM_001018115.3(FANCD2):c.491+9C>T rs370232992
NM_001018115.3(FANCD2):c.492-13C>T
NM_001018115.3(FANCD2):c.492-7A>G
NM_001018115.3(FANCD2):c.492-8C>T
NM_001018115.3(FANCD2):c.498C>T (p.Asn166=)
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
NM_001018115.3(FANCD2):c.510C>T (p.Ile170=)
NM_001018115.3(FANCD2):c.519T>C (p.Pro173=)
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
NM_001018115.3(FANCD2):c.531C>G (p.Val177=) rs747006885
NM_001018115.3(FANCD2):c.537A>G (p.Gln179=)
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr) rs2086806903
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_001018115.3(FANCD2):c.561G>A (p.Val187=)
NM_001018115.3(FANCD2):c.570+11G>A
NM_001018115.3(FANCD2):c.570+15T>C
NM_001018115.3(FANCD2):c.570+15T>G
NM_001018115.3(FANCD2):c.570+20C>G
NM_001018115.3(FANCD2):c.570+9A>G
NM_001018115.3(FANCD2):c.571-15T>A
NM_001018115.3(FANCD2):c.571-15T>C
NM_001018115.3(FANCD2):c.571-20A>C
NM_001018115.3(FANCD2):c.571-2A>G
NM_001018115.3(FANCD2):c.571-4G>A
NM_001018115.3(FANCD2):c.571-4G>T
NM_001018115.3(FANCD2):c.571-9C>T
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn) rs1257501671
NM_001018115.3(FANCD2):c.595C>T (p.Leu199=) rs756336462
NM_001018115.3(FANCD2):c.600C>T (p.Ile200=)
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val) rs2124985132
NM_001018115.3(FANCD2):c.60C>T (p.Ala20=)
NM_001018115.3(FANCD2):c.618C>T (p.Asn206=)
NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)
NM_001018115.3(FANCD2):c.633C>T (p.Ile211=)
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val) rs2124985240
NM_001018115.3(FANCD2):c.64+10T>G
NM_001018115.3(FANCD2):c.64+1_64+2del rs777719596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.64+7A>G
NM_001018115.3(FANCD2):c.64+8T>C
NM_001018115.3(FANCD2):c.64+8_64+11del
NM_001018115.3(FANCD2):c.645A>G (p.Leu215=)
NM_001018115.3(FANCD2):c.65-17A>T
NM_001018115.3(FANCD2):c.65-1G>T
NM_001018115.3(FANCD2):c.65-20G>A
NM_001018115.3(FANCD2):c.65-8A>G
NM_001018115.3(FANCD2):c.654C>A (p.Ile218=)
NM_001018115.3(FANCD2):c.666C>T (p.Ser222=)
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu) rs1307143430
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
NM_001018115.3(FANCD2):c.678T>C (p.Asp226=)
NM_001018115.3(FANCD2):c.687A>G (p.Lys229=)
NM_001018115.3(FANCD2):c.694_695+14del
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
NM_001018115.3(FANCD2):c.695+11C>A
NM_001018115.3(FANCD2):c.695+12C>G
NM_001018115.3(FANCD2):c.695+12C>T
NM_001018115.3(FANCD2):c.695+1G>A
NM_001018115.3(FANCD2):c.695+2T>A
NM_001018115.3(FANCD2):c.695+5A>G
NM_001018115.3(FANCD2):c.695+6_695+11del rs2124985470
NM_001018115.3(FANCD2):c.695+8_695+9dup
NM_001018115.3(FANCD2):c.696-7T>C
NM_001018115.3(FANCD2):c.696-9C>T
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
NM_001018115.3(FANCD2):c.700C>T (p.Leu234=)
NM_001018115.3(FANCD2):c.703C>T (p.Leu235=)
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.714T>C (p.Asn238=)
NM_001018115.3(FANCD2):c.723C>T (p.Leu241=) rs1158546653
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
NM_001018115.3(FANCD2):c.736C>T (p.Leu246=)
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.775del (p.Leu259fs) rs2124989402
NM_001018115.3(FANCD2):c.777A>C (p.Leu259=)
NM_001018115.3(FANCD2):c.777A>G (p.Leu259=)
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
NM_001018115.3(FANCD2):c.783+13C>T
NM_001018115.3(FANCD2):c.783+16C>G
NM_001018115.3(FANCD2):c.783+16C>T
NM_001018115.3(FANCD2):c.783+6A>G
NM_001018115.3(FANCD2):c.783+7A>G
NM_001018115.3(FANCD2):c.784-12T>C
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.798G>A (p.Val266=)
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.816T>A (p.Ser272=)
NM_001018115.3(FANCD2):c.81A>G (p.Pro27=)
NM_001018115.3(FANCD2):c.823T>C (p.Leu275=)
NM_001018115.3(FANCD2):c.831T>C (p.Asp277=)
NM_001018115.3(FANCD2):c.846A>C (p.Ile282=)
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val) rs2124991389
NM_001018115.3(FANCD2):c.855T>C (p.Ile285=)
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
NM_001018115.3(FANCD2):c.888+10T>C
NM_001018115.3(FANCD2):c.888+12T>C
NM_001018115.3(FANCD2):c.888+13A>G
NM_001018115.3(FANCD2):c.888+16C>T
NM_001018115.3(FANCD2):c.888+1G>A
NM_001018115.3(FANCD2):c.888+20C>G
NM_001018115.3(FANCD2):c.888+3A>G
NM_001018115.3(FANCD2):c.888+9T>G rs777620616
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
NM_001018115.3(FANCD2):c.889-20C>T
NM_001018115.3(FANCD2):c.889-2A>G
NM_001018115.3(FANCD2):c.889-7T>C rs2086903764
NM_001018115.3(FANCD2):c.897T>C (p.Ser299=) rs2124992189
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro) rs755797932
NM_001018115.3(FANCD2):c.906G>A (p.Arg302=)
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val) rs1486958347
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
NM_001018115.3(FANCD2):c.927T>C (p.His309=)
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.958C>T (p.Gln320Ter) rs121917788
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
NM_001018115.3(FANCD2):c.967T>C (p.Leu323=)
NM_001018115.3(FANCD2):c.969G>A (p.Leu323=)
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.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.984A>G (p.Arg328=)
NM_001018115.3(FANCD2):c.989+11C>T
NM_001018115.3(FANCD2):c.989+3A>G
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
NM_001018115.3(FANCD2):c.990-10C>A
NM_001018115.3(FANCD2):c.990-11G>T
NM_001018115.3(FANCD2):c.990-13C>T
NM_001018115.3(FANCD2):c.990-15C>T
NM_001018115.3(FANCD2):c.990-5T>C
NM_001018115.3(FANCD2):c.996A>C (p.Ser332=)
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile) rs1222471181
NM_001113378.2(FANCI):c.1008G>A (p.Lys336=)
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu) rs1432524532
NM_001113378.2(FANCI):c.1011C>T (p.Ser337=)
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.1044A>G (p.Lys348=) rs2151452858
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
NM_001113378.2(FANCI):c.1059A>C (p.Leu353=)
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.1074T>C (p.Ser358=)
NM_001113378.2(FANCI):c.1074T>G (p.Ser358=)
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) rs1429851841
NM_001113378.2(FANCI):c.1077T>C (p.Tyr359=)
NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu) rs2151453253
NM_001113378.2(FANCI):c.1101A>G (p.Val367=)
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
NM_001113378.2(FANCI):c.1107G>A (p.Lys369=)
NM_001113378.2(FANCI):c.1110T>C (p.Asn370=)
NM_001113378.2(FANCI):c.1112+13_1112+14insAGATATGAA
NM_001113378.2(FANCI):c.1112+14C>G
NM_001113378.2(FANCI):c.1112+16A>G
NM_001113378.2(FANCI):c.1112+7del
NM_001113378.2(FANCI):c.1113-13T>C
NM_001113378.2(FANCI):c.1113-1G>A rs2151485792
NM_001113378.2(FANCI):c.1113-20T>C
NM_001113378.2(FANCI):c.1118A>G (p.His373Arg)
NM_001113378.2(FANCI):c.1119T>C (p.His373=)
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe) rs1216132878
NM_001113378.2(FANCI):c.1134T>C (p.Val378=) rs1201574474
NM_001113378.2(FANCI):c.1140G>A (p.Gln380=) rs1056588286
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
NM_001113378.2(FANCI):c.1149A>G (p.Val383=)
NM_001113378.2(FANCI):c.114G>A (p.Val38=) rs769209297
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
NM_001113378.2(FANCI):c.1158T>G (p.Gly386=) rs2151486340
NM_001113378.2(FANCI):c.1161C>T (p.Phe387=) rs2151486354
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr) rs1174812931
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
NM_001113378.2(FANCI):c.1182G>A (p.Gly394=)
NM_001113378.2(FANCI):c.1185A>G (p.Pro395=)
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu) rs2053427139
NM_001113378.2(FANCI):c.1194T>C (p.Val398=)
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
NM_001113378.2(FANCI):c.1203A>T (p.Gly401=)
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
NM_001113378.2(FANCI):c.1218C>T (p.Thr406=)
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.123A>G (p.Lys41=)
NM_001113378.2(FANCI):c.1251T>C (p.His417=) rs2151487041
NM_001113378.2(FANCI):c.1254A>C (p.Ala418=)
NM_001113378.2(FANCI):c.1254A>G (p.Ala418=)
NM_001113378.2(FANCI):c.1254A>T (p.Ala418=) rs772465377
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1266A>G (p.Gly422=)
NM_001113378.2(FANCI):c.126T>C (p.Val42=)
NM_001113378.2(FANCI):c.1272T>C (p.Asn424=)
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1275C>T (p.Ile425=)
NM_001113378.2(FANCI):c.1278G>C (p.Leu426=)
NM_001113378.2(FANCI):c.1278G>T (p.Leu426=) rs1060504377
NM_001113378.2(FANCI):c.1293+11A>G
NM_001113378.2(FANCI):c.1293+1G>A rs768310043
NM_001113378.2(FANCI):c.1293+2T>G
NM_001113378.2(FANCI):c.1293+7C>T
NM_001113378.2(FANCI):c.1293+8A>G
NM_001113378.2(FANCI):c.1293+9C>T
NM_001113378.2(FANCI):c.1294-11G>A
NM_001113378.2(FANCI):c.1294-11G>C rs770915999
NM_001113378.2(FANCI):c.1294-16A>T
NM_001113378.2(FANCI):c.1294-17T>C
NM_001113378.2(FANCI):c.1294-20A>T
NM_001113378.2(FANCI):c.1294-8del
NM_001113378.2(FANCI):c.1294-9_1294-8insA rs1555445524
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.1312_1313del (p.Gln438fs)
NM_001113378.2(FANCI):c.1314A>T (p.Gln438His)
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
NM_001113378.2(FANCI):c.1329G>A (p.Gln443=)
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.1350C>G (p.Thr450=)
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.1365C>T (p.Pro455=) rs2053499669
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.1381+12T>C
NM_001113378.2(FANCI):c.1381+12T>G
NM_001113378.2(FANCI):c.1381+1G>T
NM_001113378.2(FANCI):c.1381+21_1381+24del
NM_001113378.2(FANCI):c.1381+8A>C
NM_001113378.2(FANCI):c.1381+8A>G
NM_001113378.2(FANCI):c.1382-11C>G
NM_001113378.2(FANCI):c.1382-11_1382-10del rs753044978
NM_001113378.2(FANCI):c.1382-18A>G
NM_001113378.2(FANCI):c.1382-18A>T rs763617822
NM_001113378.2(FANCI):c.1382-19T>C
NM_001113378.2(FANCI):c.1384C>T (p.Leu462=) rs1369888767
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter) rs2151549770
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
NM_001113378.2(FANCI):c.1410A>T (p.Ala470=)
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile) rs2053602523
NM_001113378.2(FANCI):c.1425A>G (p.Gln475=)
NM_001113378.2(FANCI):c.1428T>C (p.Ser476=)
NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr) rs2053602935
NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu)
NM_001113378.2(FANCI):c.1452T>C (p.Ala484=)
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro) rs2053603506
NM_001113378.2(FANCI):c.1467C>A (p.Ser489=) rs267604369
NM_001113378.2(FANCI):c.1471C>T (p.Leu491=)
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.1488A>G (p.Val496=)
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>A (p.Arg498=)
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser) rs767830108
NM_001113378.2(FANCI):c.1506A>C (p.Ala502=)
NM_001113378.2(FANCI):c.1512+12G>A
NM_001113378.2(FANCI):c.1512+12G>C
NM_001113378.2(FANCI):c.1512+16C>G
NM_001113378.2(FANCI):c.1512+1G>A rs2151551135
NM_001113378.2(FANCI):c.1512+20A>C
NM_001113378.2(FANCI):c.1512+5G>C rs2053605169
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=) rs377762481
NM_001113378.2(FANCI):c.1513-17C>T
NM_001113378.2(FANCI):c.1513-9C>A
NM_001113378.2(FANCI):c.1513-9C>G
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His) rs773105092
NM_001113378.2(FANCI):c.1515C>A (p.Pro505=)
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.1560C>T (p.Val520=)
NM_001113378.2(FANCI):c.1564C>A (p.Arg522=) rs371568506
NM_001113378.2(FANCI):c.157+14A>G
NM_001113378.2(FANCI):c.157+16G>C
NM_001113378.2(FANCI):c.157+19A>T
NM_001113378.2(FANCI):c.157+1G>A
NM_001113378.2(FANCI):c.157+2TAA[2]
NM_001113378.2(FANCI):c.158-15G>C
NM_001113378.2(FANCI):c.158-16T>C rs749777770
NM_001113378.2(FANCI):c.158-18C>G
NM_001113378.2(FANCI):c.158-18C>T
NM_001113378.2(FANCI):c.158-19C>A rs762350003
NM_001113378.2(FANCI):c.158-19C>T
NM_001113378.2(FANCI):c.158-20C>T
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.158-5A>G
NM_001113378.2(FANCI):c.158-9A>T
NM_001113378.2(FANCI):c.1583+10A>G
NM_001113378.2(FANCI):c.1583+12C>T
NM_001113378.2(FANCI):c.1583+15T>C
NM_001113378.2(FANCI):c.1583+16T>G
NM_001113378.2(FANCI):c.1583+19T>G
NM_001113378.2(FANCI):c.1583+20A>G
NM_001113378.2(FANCI):c.1583+3A>G rs2151559047
NM_001113378.2(FANCI):c.1583+9C>T
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr) rs2151559017
NM_001113378.2(FANCI):c.1584-13A>G
NM_001113378.2(FANCI):c.1584-14T>G rs2151579826
NM_001113378.2(FANCI):c.1584-15C>T
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1584-20C>T
NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)
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.1641_1642dup (p.Lys548fs)
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.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151580463
NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg)
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg) rs1060501901
NM_001113378.2(FANCI):c.1662A>G (p.Ser554=) rs1596287918
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs) rs2053682638
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.1689T>C (p.Ser563=)
NM_001113378.2(FANCI):c.1698+10A>G
NM_001113378.2(FANCI):c.1698+11_1698+14del rs763550734
NM_001113378.2(FANCI):c.1698+1G>A
NM_001113378.2(FANCI):c.1698+4A>G rs1233338671
NM_001113378.2(FANCI):c.1699-13G>A
NM_001113378.2(FANCI):c.1699-15del
NM_001113378.2(FANCI):c.1699-16C>T
NM_001113378.2(FANCI):c.1699-17G>A
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.1699-7del
NM_001113378.2(FANCI):c.1699-8C>T
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.1713T>C (p.Val571=)
NM_001113378.2(FANCI):c.1752C>T (p.Cys584=)
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
NM_001113378.2(FANCI):c.1761C>T (p.Ile587=)
NM_001113378.2(FANCI):c.1767T>C (p.Asp589=)
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
NM_001113378.2(FANCI):c.1777A>C (p.Arg593=)
NM_001113378.2(FANCI):c.1779A>G (p.Arg593=) rs2151610817
NM_001113378.2(FANCI):c.1782C>T (p.Cys594=)
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
NM_001113378.2(FANCI):c.1797T>G (p.Ala599=)
NM_001113378.2(FANCI):c.180T>C (p.Ala60=) rs2151252789
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
NM_001113378.2(FANCI):c.1821+13A>G rs2151611385
NM_001113378.2(FANCI):c.1821+15T>C
NM_001113378.2(FANCI):c.1821+7C>G
NM_001113378.2(FANCI):c.1821+8C>T rs1406084847
NM_001113378.2(FANCI):c.1822-12G>C rs1348604439
NM_001113378.2(FANCI):c.1822-15T>C
NM_001113378.2(FANCI):c.1822-16C>A
NM_001113378.2(FANCI):c.1822-16C>T
NM_001113378.2(FANCI):c.1822-3T>C rs978852872
NM_001113378.2(FANCI):c.1822-6T>C
NM_001113378.2(FANCI):c.1822-7del rs1457763718
NM_001113378.2(FANCI):c.1822-8C>G
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu) rs780853984
NM_001113378.2(FANCI):c.1833T>C (p.Asp611=) rs2151689444
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe) rs2151689487
NM_001113378.2(FANCI):c.183A>G (p.Gly61=)
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
NM_001113378.2(FANCI):c.1860T>C (p.Ala620=)
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.1880_1886del (p.Leu627fs)
NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro) rs753059359
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
NM_001113378.2(FANCI):c.1890+12T>C
NM_001113378.2(FANCI):c.1890+19G>T
NM_001113378.2(FANCI):c.1890+20A>C
NM_001113378.2(FANCI):c.1890+8A>G
NM_001113378.2(FANCI):c.1890+9C>T
NM_001113378.2(FANCI):c.1891-10C>A
NM_001113378.2(FANCI):c.1891-10C>T
NM_001113378.2(FANCI):c.1891-11A>G
NM_001113378.2(FANCI):c.1891-13T>C
NM_001113378.2(FANCI):c.1891-14C>G
NM_001113378.2(FANCI):c.1891-4A>G
NM_001113378.2(FANCI):c.1891-6A>G rs878854175
NM_001113378.2(FANCI):c.1891-8A>G
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln) rs751777082
NM_001113378.2(FANCI):c.1908G>A (p.Glu636=)
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.1944A>G (p.Glu648=)
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) rs746651145
NM_001113378.2(FANCI):c.1954C>T (p.Leu652=) rs1433980751
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.1968T>C (p.Asp656=)
NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu) rs745308624
NM_001113378.2(FANCI):c.1978C>T (p.Leu660=)
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
NM_001113378.2(FANCI):c.1980A>G (p.Leu660=)
NM_001113378.2(FANCI):c.1983A>G (p.Gln661=)
NM_001113378.2(FANCI):c.1986A>G (p.Glu662=) rs769047323
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
NM_001113378.2(FANCI):c.1989A>C (p.Pro663=)
NM_001113378.2(FANCI):c.1989A>G (p.Pro663=)
NM_001113378.2(FANCI):c.198T>C (p.Arg66=)
NM_001113378.2(FANCI):c.1992+12A>G
NM_001113378.2(FANCI):c.1992+15C>T rs931290756
NM_001113378.2(FANCI):c.1992+3G>C
NM_001113378.2(FANCI):c.1993-10del
NM_001113378.2(FANCI):c.1993-15T>C
NM_001113378.2(FANCI):c.1993-17C>G
NM_001113378.2(FANCI):c.1993-19_1993-15del rs2151723581
NM_001113378.2(FANCI):c.1993-7C>T
NM_001113378.2(FANCI):c.1998T>C (p.Tyr666=)
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu) rs748834576
NM_001113378.2(FANCI):c.2004G>A (p.Leu668=)
NM_001113378.2(FANCI):c.2004G>T (p.Leu668=)
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg) rs2151724076
NM_001113378.2(FANCI):c.2019T>C (p.His673=)
NM_001113378.2(FANCI):c.2029del (p.Trp677fs) rs2151724213
NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)
NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr)
NM_001113378.2(FANCI):c.2052C>G (p.Pro684=)
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
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.2076G>A (p.Glu692=)
NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly)
NM_001113378.2(FANCI):c.207C>T (p.Tyr69=)
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.2091A>G (p.Ala697=) rs1262206533
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.2097C>A (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=) rs376376537
NM_001113378.2(FANCI):c.2106A>G (p.Leu702=) rs2151725234
NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val)
NM_001113378.2(FANCI):c.2116T>C (p.Leu706=)
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
NM_001113378.2(FANCI):c.2121G>A (p.Glu707=) rs2151725442
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) rs2054118261
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
NM_001113378.2(FANCI):c.2163T>C (p.Phe721=) rs1263993972
NM_001113378.2(FANCI):c.2167C>T (p.Leu723=) rs878854177
NM_001113378.2(FANCI):c.2169+15C>T
NM_001113378.2(FANCI):c.2169+18A>G
NM_001113378.2(FANCI):c.2169+1G>A
NM_001113378.2(FANCI):c.2169+2T>C
NM_001113378.2(FANCI):c.2169+9T>C rs1205906508
NM_001113378.2(FANCI):c.2169+9T>G
NM_001113378.2(FANCI):c.2170-3dup
NM_001113378.2(FANCI):c.2170-4T>C rs1167442446
NM_001113378.2(FANCI):c.2170-7C>A rs759281018
NM_001113378.2(FANCI):c.2170-9_2170-8del
NM_001113378.2(FANCI):c.2175A>G (p.Lys725=)
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro) rs1596304843
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
NM_001113378.2(FANCI):c.2196C>T (p.Ser732=)
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala) rs2054122961
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
NM_001113378.2(FANCI):c.219C>T (p.Ile73=) rs928688700
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu) rs2052680747
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
NM_001113378.2(FANCI):c.222G>A (p.Gln74=)
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.2274C>T (p.Phe758=)
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+10T>C
NM_001113378.2(FANCI):c.2291+15T>C rs2151728206
NM_001113378.2(FANCI):c.2291+1G>A
NM_001113378.2(FANCI):c.2291+20C>A
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2291+5G>A rs1315760080
NM_001113378.2(FANCI):c.2292-12T>C
NM_001113378.2(FANCI):c.2292-12dup
NM_001113378.2(FANCI):c.2292-17T>C rs775115671
NM_001113378.2(FANCI):c.2292-18C>A rs901102009
NM_001113378.2(FANCI):c.2292-1G>T
NM_001113378.2(FANCI):c.2292-20C>G
NM_001113378.2(FANCI):c.2292-3C>T
NM_001113378.2(FANCI):c.2292-5dup rs1567165544
NM_001113378.2(FANCI):c.2292-8_2292-7insAT
NM_001113378.2(FANCI):c.2298T>C (p.Asn766=)
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>A (p.Glu769=)
NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp)
NM_001113378.2(FANCI):c.2310C>T (p.Asp770=) rs1169269440
NM_001113378.2(FANCI):c.2314C>T (p.Leu772=)
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn) rs1192891263
NM_001113378.2(FANCI):c.2319C>T (p.Ser773=)
NM_001113378.2(FANCI):c.231A>G (p.Glu77=)
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
NM_001113378.2(FANCI):c.2343C>G (p.Leu781=) rs1377037041
NM_001113378.2(FANCI):c.2343C>T (p.Leu781=)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs) rs2151740576
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly) rs1363536852
NM_001113378.2(FANCI):c.234G>A (p.Ser78=)
NM_001113378.2(FANCI):c.2352T>A (p.Ile784=)
NM_001113378.2(FANCI):c.2364A>G (p.Lys788=)
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.2370T>A (p.Gly790=) rs2151740808
NM_001113378.2(FANCI):c.237G>A (p.Gly79=)
NM_001113378.2(FANCI):c.2382T>G (p.Thr794=) rs2151740871
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val) rs761136936
NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys)
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala) rs1163712614
NM_001113378.2(FANCI):c.2400A>G (p.Thr800=)
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
NM_001113378.2(FANCI):c.241T>C (p.Leu81=)
NM_001113378.2(FANCI):c.2424A>G (p.Lys808=)
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.244C>T (p.Gln82Ter)
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly) rs370996106
NM_001113378.2(FANCI):c.2456+10T>C rs2151741937
NM_001113378.2(FANCI):c.2456+12C>G
NM_001113378.2(FANCI):c.2456+16A>G
NM_001113378.2(FANCI):c.2456+17G>C
NM_001113378.2(FANCI):c.2456+19G>A
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2457-10C>G
NM_001113378.2(FANCI):c.2457-11TC[3]
NM_001113378.2(FANCI):c.2457-12G>A
NM_001113378.2(FANCI):c.2457-12G>C
NM_001113378.2(FANCI):c.2457-12_2457-3del
NM_001113378.2(FANCI):c.2457-16C>G
NM_001113378.2(FANCI):c.2457-16C>T
NM_001113378.2(FANCI):c.2457-18C>T
NM_001113378.2(FANCI):c.2457-20C>G
NM_001113378.2(FANCI):c.2457-20C>T
NM_001113378.2(FANCI):c.2457-23TC[3] rs751389631
NM_001113378.2(FANCI):c.2457-2A>G rs2054196709
NM_001113378.2(FANCI):c.2457-4C>A
NM_001113378.2(FANCI):c.2457-4C>T
NM_001113378.2(FANCI):c.2457-7T>C
NM_001113378.2(FANCI):c.2457-8C>G rs2151754256
NM_001113378.2(FANCI):c.2457-8C>T rs2151754256
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.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr)
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu) rs2151253685
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
NM_001113378.2(FANCI):c.2484C>T (p.Ser828=) rs750041727
NM_001113378.2(FANCI):c.2496C>T (p.Leu832=)
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
NM_001113378.2(FANCI):c.24A>G (p.Leu8=)
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.2520C>A (p.Arg840=)
NM_001113378.2(FANCI):c.2520C>T (p.Arg840=)
NM_001113378.2(FANCI):c.2532T>C (p.Asn844=)
NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile) rs1596307741
NM_001113378.2(FANCI):c.2544G>A (p.Gln848=)
NM_001113378.2(FANCI):c.2550A>G (p.Val850=)
NM_001113378.2(FANCI):c.2553G>A (p.Gln851=)
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro) rs541976745
NM_001113378.2(FANCI):c.2568A>G (p.Thr856=)
NM_001113378.2(FANCI):c.2571G>A (p.Gly857=) rs2151755630
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
NM_001113378.2(FANCI):c.2583C>A (p.Gly861=)
NM_001113378.2(FANCI):c.2586T>C (p.Pro862=)
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly) rs2054201315
NM_001113378.2(FANCI):c.258G>A (p.Ala86=) rs750230813
NM_001113378.2(FANCI):c.258G>T (p.Ala86=)
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
NM_001113378.2(FANCI):c.2592C>A (p.Gly864=)
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
NM_001113378.2(FANCI):c.2616G>A (p.Gln872=)
NM_001113378.2(FANCI):c.2619C>T (p.Asn873=)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2636+10T>A
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.2636+12C>G
NM_001113378.2(FANCI):c.2636+18C>A
NM_001113378.2(FANCI):c.2636+18C>T
NM_001113378.2(FANCI):c.2636+7C>A rs1264792365
NM_001113378.2(FANCI):c.2636+7C>T
NM_001113378.2(FANCI):c.2636+8A>G
NM_001113378.2(FANCI):c.2636+9C>A
NM_001113378.2(FANCI):c.2636+9C>T
NM_001113378.2(FANCI):c.2637-12C>A
NM_001113378.2(FANCI):c.2637-12C>G
NM_001113378.2(FANCI):c.2637-15T>C rs2151838036
NM_001113378.2(FANCI):c.2637-16C>T
NM_001113378.2(FANCI):c.2637-18C>T
NM_001113378.2(FANCI):c.2637-19C>T
NM_001113378.2(FANCI):c.2637-1G>C
NM_001113378.2(FANCI):c.2637-5T>C
NM_001113378.2(FANCI):c.2640C>A (p.Val880=)
NM_001113378.2(FANCI):c.2644C>T (p.Leu882=)
NM_001113378.2(FANCI):c.2646A>C (p.Leu882=)
NM_001113378.2(FANCI):c.264G>A (p.Glu88=)
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser) rs749604758
NM_001113378.2(FANCI):c.2658T>C (p.Thr886=)
NM_001113378.2(FANCI):c.2658T>G (p.Thr886=)
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
NM_001113378.2(FANCI):c.2670T>C (p.Thr890=)
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.2680G>T (p.Glu894Ter)
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.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
NM_001113378.2(FANCI):c.2703A>G (p.Gly901=)
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile) rs1421890045
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
NM_001113378.2(FANCI):c.2724C>T (p.Cys908=)
NM_001113378.2(FANCI):c.2727G>A (p.Leu909=)
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln) rs1261021714
NM_001113378.2(FANCI):c.2733T>C (p.Gly911=)
NM_001113378.2(FANCI):c.2736A>G (p.Leu912=) rs768880495
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.2781T>A (p.Ile927=) rs771106622
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.2793C>T (p.Leu931=)
NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr)
NM_001113378.2(FANCI):c.2803+11C>G
NM_001113378.2(FANCI):c.2803+13G>A
NM_001113378.2(FANCI):c.2803+16T>A
NM_001113378.2(FANCI):c.2803+18A>T
NM_001113378.2(FANCI):c.2803+19A>G
NM_001113378.2(FANCI):c.2803+6C>T
NM_001113378.2(FANCI):c.2803+8T>C
NM_001113378.2(FANCI):c.2804-19G>A
NM_001113378.2(FANCI):c.2804-1G>C rs2054480330
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2804-4C>A
NM_001113378.2(FANCI):c.2804-5C>G
NM_001113378.2(FANCI):c.2804-9C>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.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2832A>G (p.Arg944=) rs79685648
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
NM_001113378.2(FANCI):c.283C>T (p.Leu95=)
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.2847C>T (p.Val949=)
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.2850T>C (p.Ser950=)
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.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr)
NM_001113378.2(FANCI):c.2868A>G (p.Ala956=) rs2151845184
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
NM_001113378.2(FANCI):c.2877C>A (p.Ile959=)
NM_001113378.2(FANCI):c.288+10C>G
NM_001113378.2(FANCI):c.288+13del rs748948721
NM_001113378.2(FANCI):c.288+18_288+19delinsTC rs2151254662
NM_001113378.2(FANCI):c.288+19A>T
NM_001113378.2(FANCI):c.288+19del
NM_001113378.2(FANCI):c.2889+13G>T
NM_001113378.2(FANCI):c.2889+16A>G
NM_001113378.2(FANCI):c.2889+20T>A rs2151845568
NM_001113378.2(FANCI):c.2889+2T>C
NM_001113378.2(FANCI):c.289-13T>C
NM_001113378.2(FANCI):c.289-15C>G
NM_001113378.2(FANCI):c.289-15C>T
NM_001113378.2(FANCI):c.289-17A>G rs2052714114
NM_001113378.2(FANCI):c.289-18T>C
NM_001113378.2(FANCI):c.2890-15G>A
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys) rs2151859007
NM_001113378.2(FANCI):c.2892G>A (p.Arg964=) rs780232353
NM_001113378.2(FANCI):c.2896T>C (p.Leu966=) rs1042620375
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg) rs376798440
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
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.2937C>T (p.Ser979=)
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
NM_001113378.2(FANCI):c.2949C>A (p.Leu983=) rs2151859425
NM_001113378.2(FANCI):c.294C>T (p.His98=)
NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val)
NM_001113378.2(FANCI):c.2958C>T (p.Val986=)
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
NM_001113378.2(FANCI):c.2961G>A (p.Thr987=)
NM_001113378.2(FANCI):c.2961G>C (p.Thr987=)
NM_001113378.2(FANCI):c.2961G>T (p.Thr987=)
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile) rs762231803
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
NM_001113378.2(FANCI):c.2985A>G (p.Leu995=)
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.3000_3004del (p.Pro1001fs) rs1596318782
NM_001113378.2(FANCI):c.3006+12G>A
NM_001113378.2(FANCI):c.3006+13C>A
NM_001113378.2(FANCI):c.3006+13C>T rs1412674861
NM_001113378.2(FANCI):c.3006+1G>A
NM_001113378.2(FANCI):c.3006+20A>C rs1173017190
NM_001113378.2(FANCI):c.3006+4C>G
NM_001113378.2(FANCI):c.3006+7G>A
NM_001113378.2(FANCI):c.3007-18G>A
NM_001113378.2(FANCI):c.3007-1G>A
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3007-3T>A
NM_001113378.2(FANCI):c.3007-9C>G
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser) rs770185523
NM_001113378.2(FANCI):c.3024C>T (p.Ser1008=)
NM_001113378.2(FANCI):c.3030A>G (p.Thr1010=)
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
NM_001113378.2(FANCI):c.3036G>A (p.Lys1012=)
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+10C>T rs1375877085
NM_001113378.2(FANCI):c.3058+15A>G
NM_001113378.2(FANCI):c.3058+1G>C
NM_001113378.2(FANCI):c.3058+4A>G rs2054616468
NM_001113378.2(FANCI):c.3058+8T>C
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
NM_001113378.2(FANCI):c.3059-11C>T rs2054667046
NM_001113378.2(FANCI):c.3059-14C>A
NM_001113378.2(FANCI):c.3059-18T>C
NM_001113378.2(FANCI):c.3059-4C>G rs747570773
NM_001113378.2(FANCI):c.3059-4C>T rs747570773
NM_001113378.2(FANCI):c.3059-4dup rs1317953100
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.3066C>T (p.Ala1022=)
NM_001113378.2(FANCI):c.3075C>T (p.Cys1025=)
NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=) rs2151913000
NM_001113378.2(FANCI):c.3096C>T (p.Leu1032=) rs2151913106
NM_001113378.2(FANCI):c.309A>G (p.Pro103=)
NM_001113378.2(FANCI):c.3105G>A (p.Leu1035=)
NM_001113378.2(FANCI):c.3105G>C (p.Leu1035=)
NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu) rs2151913209
NM_001113378.2(FANCI):c.3114G>T (p.Ser1038=) rs567952571
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>C (p.Tyr1039=) rs2151913256
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
NM_001113378.2(FANCI):c.3129C>T (p.Val1043=)
NM_001113378.2(FANCI):c.312A>G (p.Leu104=)
NM_001113378.2(FANCI):c.3136C>T (p.Leu1046=)
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
NM_001113378.2(FANCI):c.3147G>A (p.Leu1049=)
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3150C>T (p.Ser1050=)
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.3165G>A (p.Gly1055=) rs1596324375
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn) rs2054670897
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=) rs564447394
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.3183C>T (p.Asp1061=)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3186+10T>C
NM_001113378.2(FANCI):c.3186+14C>T
NM_001113378.2(FANCI):c.3186+6A>G rs910020158
NM_001113378.2(FANCI):c.3187-11C>G
NM_001113378.2(FANCI):c.3187-12T>C
NM_001113378.2(FANCI):c.3187-13T>G
NM_001113378.2(FANCI):c.3187-14C>A
NM_001113378.2(FANCI):c.3187-16C>T
NM_001113378.2(FANCI):c.3187-18C>G
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3187-3C>G rs2054676661
NM_001113378.2(FANCI):c.3187-7del
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
NM_001113378.2(FANCI):c.3195G>A (p.Glu1065=)
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly) rs2052715611
NM_001113378.2(FANCI):c.3219A>G (p.Ala1073=)
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu) rs1450182027
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
NM_001113378.2(FANCI):c.3231G>A (p.Leu1077=)
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=) rs1596324690
NM_001113378.2(FANCI):c.3237G>T (p.Thr1079=)
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
NM_001113378.2(FANCI):c.3246C>T (p.Pro1082=)
NM_001113378.2(FANCI):c.324A>G (p.Leu108=) rs1427386763
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe) rs533779983
NM_001113378.2(FANCI):c.3255+10G>A
NM_001113378.2(FANCI):c.3255+16G>A rs2151915712
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3256-17G>C
NM_001113378.2(FANCI):c.3256-19A>G
NM_001113378.2(FANCI):c.3256-8_3256-4del
NM_001113378.2(FANCI):c.3256-9_3256-8del rs752376850
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile) rs2151267729
NM_001113378.2(FANCI):c.3264T>A (p.Val1088=)
NM_001113378.2(FANCI):c.3265C>T (p.Leu1089=)
NM_001113378.2(FANCI):c.3276C>T (p.Ala1092=)
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) rs758575911
NM_001113378.2(FANCI):c.327C>T (p.Ala109=)
NM_001113378.2(FANCI):c.3282G>A (p.Lys1094=)
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile) rs1596325131
NM_001113378.2(FANCI):c.3285T>C (p.Val1095=) rs1567174233
NM_001113378.2(FANCI):c.3286C>T (p.Leu1096=)
NM_001113378.2(FANCI):c.3288A>T (p.Leu1096=)
NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=) rs2054690236
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
NM_001113378.2(FANCI):c.3306A>T (p.Leu1102=)
NM_001113378.2(FANCI):c.3309C>T (p.Ile1103=)
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro) rs768735814
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
NM_001113378.2(FANCI):c.3312C>T (p.Thr1104=)
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln) rs2151267825
NM_001113378.2(FANCI):c.3324A>G (p.Gly1108=)
NM_001113378.2(FANCI):c.3333C>T (p.Ser1111=)
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser) rs2151919026
NM_001113378.2(FANCI):c.3349+10G>A rs1337260318
NM_001113378.2(FANCI):c.3349+17del
NM_001113378.2(FANCI):c.3350-8C>T rs1398425984
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.3357C>G (p.Ala1119=)
NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr)
NM_001113378.2(FANCI):c.336T>C (p.Phe112=)
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.3384G>A (p.Gln1128=) rs988319051
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.3396A>G (p.Lys1132=)
NM_001113378.2(FANCI):c.3399T>C (p.Ala1133=)
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe)
NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=) rs781569040
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
NM_001113378.2(FANCI):c.3423G>A (p.Leu1141=) rs1596325708
NM_001113378.2(FANCI):c.3423G>C (p.Leu1141=)
NM_001113378.2(FANCI):c.3426T>C (p.Leu1142=) rs748087226
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg) rs772071601
NM_001113378.2(FANCI):c.342T>C (p.Ser114=)
NM_001113378.2(FANCI):c.3438C>T (p.His1146=)
NM_001113378.2(FANCI):c.345T>C (p.Ala115=)
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
NM_001113378.2(FANCI):c.3462A>G (p.Pro1154=)
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter) rs2151924296
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu) rs2054708416
NM_001113378.2(FANCI):c.3486G>A (p.Leu1162=)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu)
NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe)
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
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.3516A>G (p.Thr1172=)
NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala)
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
NM_001113378.2(FANCI):c.3525C>T (p.Ala1175=) rs114810692
NM_001113378.2(FANCI):c.3528T>C (p.Leu1176=)
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
NM_001113378.2(FANCI):c.3531C>A (p.Val1177=)
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
NM_001113378.2(FANCI):c.3537+18G>A
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3537+19C>T
NM_001113378.2(FANCI):c.3537+3_3537+6del rs780264785
NM_001113378.2(FANCI):c.3538-11T>G
NM_001113378.2(FANCI):c.3538-12T>C
NM_001113378.2(FANCI):c.3538-12T>G
NM_001113378.2(FANCI):c.3538-19A>G
NM_001113378.2(FANCI):c.3538-2A>T rs1407605188
NM_001113378.2(FANCI):c.3538-6T>A
NM_001113378.2(FANCI):c.3538-6del
NM_001113378.2(FANCI):c.3538-6dup
NM_001113378.2(FANCI):c.3543C>G (p.Leu1181=)
NM_001113378.2(FANCI):c.3546G>A (p.Gln1182=) rs1349708901
NM_001113378.2(FANCI):c.3549G>C (p.Val1183=)
NM_001113378.2(FANCI):c.3558C>T (p.Ser1186=)
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
NM_001113378.2(FANCI):c.3561C>A (p.Ser1187=)
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val) rs2151940603
NM_001113378.2(FANCI):c.3570T>A (p.Ile1190=)
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
NM_001113378.2(FANCI):c.3591+13del
NM_001113378.2(FANCI):c.3591+15C>G
NM_001113378.2(FANCI):c.3591+16C>G
NM_001113378.2(FANCI):c.3591+16C>T
NM_001113378.2(FANCI):c.3591+4A>T rs774180579
NM_001113378.2(FANCI):c.3591+8G>A
NM_001113378.2(FANCI):c.3592-12C>T rs2054775391
NM_001113378.2(FANCI):c.3592-14C>T
NM_001113378.2(FANCI):c.3592-19C>T
NM_001113378.2(FANCI):c.3592-20C>T
NM_001113378.2(FANCI):c.3592-6G>T
NM_001113378.2(FANCI):c.3592-7_3592-5del
NM_001113378.2(FANCI):c.3594G>C (p.Val1198=)
NM_001113378.2(FANCI):c.3600G>A (p.Leu1200=)
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
NM_001113378.2(FANCI):c.3615G>C (p.Leu1205=)
NM_001113378.2(FANCI):c.3621C>A (p.Pro1207=)
NM_001113378.2(FANCI):c.3621C>G (p.Pro1207=)
NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=) rs1448880215
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3630T>C (p.Tyr1210=)
NM_001113378.2(FANCI):c.3636C>T (p.Phe1212=)
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) rs767466504
NM_001113378.2(FANCI):c.363A>G (p.Leu121=) rs1596243244
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
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+12A>G
NM_001113378.2(FANCI):c.3651+14A>G
NM_001113378.2(FANCI):c.3651+18A>C
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.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3652-11T>C
NM_001113378.2(FANCI):c.3652-12C>A
NM_001113378.2(FANCI):c.3652-16G>A
NM_001113378.2(FANCI):c.3652-16G>C rs537857278
NM_001113378.2(FANCI):c.3652-18del rs763430013
NM_001113378.2(FANCI):c.3652-1G>T
NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser) rs1352752568
NM_001113378.2(FANCI):c.3654T>C (p.Asn1218=)
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
NM_001113378.2(FANCI):c.3669G>C (p.Leu1223=)
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs) rs1596336945
NM_001113378.2(FANCI):c.366G>A (p.Val122=)
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=) rs748187517
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
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>G (p.Lys1232=)
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.3714A>T (p.Thr1238=)
NM_001113378.2(FANCI):c.3720+11G>A
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.3720+14A>T
NM_001113378.2(FANCI):c.3720+16T>A
NM_001113378.2(FANCI):c.3720+16_3720+19del rs759240153
NM_001113378.2(FANCI):c.3720+20C>A
NM_001113378.2(FANCI):c.3720+20C>G
NM_001113378.2(FANCI):c.3720+20C>T rs572665348
NM_001113378.2(FANCI):c.3721-16T>C
NM_001113378.2(FANCI):c.3721-20C>G rs2152016160
NM_001113378.2(FANCI):c.3721-20C>T
NM_001113378.2(FANCI):c.3721-6C>T rs2152016648
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys) rs2055130158
NM_001113378.2(FANCI):c.372A>G (p.Gly124=) rs2151268209
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.3753T>G (p.Pro1251=)
NM_001113378.2(FANCI):c.3756C>T (p.Asn1252=)
NM_001113378.2(FANCI):c.3759C>G (p.Leu1253=)
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
NM_001113378.2(FANCI):c.3777G>A (p.Gln1259=)
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
NM_001113378.2(FANCI):c.3795C>A (p.Ile1265=)
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) rs2152017364
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
NM_001113378.2(FANCI):c.3816+10C>T
NM_001113378.2(FANCI):c.3816+12_3816+13del
NM_001113378.2(FANCI):c.3816+16T>C
NM_001113378.2(FANCI):c.3816+17_3816+19del rs374324314
NM_001113378.2(FANCI):c.3816+18A>T
NM_001113378.2(FANCI):c.3817-10C>T
NM_001113378.2(FANCI):c.3817-11T>C
NM_001113378.2(FANCI):c.3817-13A>C
NM_001113378.2(FANCI):c.3817-13A>G
NM_001113378.2(FANCI):c.3817-14C>A
NM_001113378.2(FANCI):c.3817-18C>T
NM_001113378.2(FANCI):c.3817-8T>C
NM_001113378.2(FANCI):c.3817-8T>G
NM_001113378.2(FANCI):c.3817-9T>C
NM_001113378.2(FANCI):c.3819G>C (p.Val1273=)
NM_001113378.2(FANCI):c.3822C>T (p.Asn1274=)
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.3831G>A (p.Gln1277=)
NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr)
NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=)
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.3849C>T (p.Thr1283=)
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
NM_001113378.2(FANCI):c.384G>A (p.Glu128=)
NM_001113378.2(FANCI):c.3864G>A (p.Lys1288=) rs2152030838
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.3880C>T (p.Leu1294=)
NM_001113378.2(FANCI):c.3882A>G (p.Leu1294=)
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.388C>T (p.Leu130=)
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.3895C>T (p.Arg1299Ter) 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.390A>G (p.Leu130=)
NM_001113378.2(FANCI):c.3918T>C (p.Asn1306=) rs561190476
NM_001113378.2(FANCI):c.3921A>G (p.Glu1307=)
NM_001113378.2(FANCI):c.3924+12C>A
NM_001113378.2(FANCI):c.3924+12C>T
NM_001113378.2(FANCI):c.3924+15_3924+16del
NM_001113378.2(FANCI):c.3924+16T>C
NM_001113378.2(FANCI):c.3924+17G>A
NM_001113378.2(FANCI):c.3924+19C>T
NM_001113378.2(FANCI):c.3924+1G>A rs864622739
NM_001113378.2(FANCI):c.3924+1G>T
NM_001113378.2(FANCI):c.3924+20T>C
NM_001113378.2(FANCI):c.3924+8C>T rs2055187470
NM_001113378.2(FANCI):c.3925-10_3935inv
NM_001113378.2(FANCI):c.3925-11del
NM_001113378.2(FANCI):c.3925-13_3925-10dup
NM_001113378.2(FANCI):c.3925-14C>A
NM_001113378.2(FANCI):c.3925-14C>T
NM_001113378.2(FANCI):c.3925-15_3925-11dup
NM_001113378.2(FANCI):c.3925-17A>C
NM_001113378.2(FANCI):c.3925-17A>G rs1164805902
NM_001113378.2(FANCI):c.3925-5T>C
NM_001113378.2(FANCI):c.3925-6T>G
NM_001113378.2(FANCI):c.3925-7C>T rs1389176310
NM_001113378.2(FANCI):c.3925-7del
NM_001113378.2(FANCI):c.3925-9C>T rs750218626
NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=) rs1275616370
NM_001113378.2(FANCI):c.3939G>A (p.Glu1313=)
NM_001113378.2(FANCI):c.393T>G (p.Pro131=)
NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=) rs1443770274
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.3969G>A (p.Lys1323=)
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.3984A>G (p.Lys1328=)
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.438T>C (p.Tyr146=)
NM_001113378.2(FANCI):c.441A>G (p.Gly147=)
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg) rs1282962332
NM_001113378.2(FANCI):c.445+11T>G
NM_001113378.2(FANCI):c.445+12C>T
NM_001113378.2(FANCI):c.445+13C>A
NM_001113378.2(FANCI):c.445+15A>T
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser) rs763494935
NM_001113378.2(FANCI):c.446-10G>A
NM_001113378.2(FANCI):c.446-17A>G rs768395269
NM_001113378.2(FANCI):c.446-20A>G
NM_001113378.2(FANCI):c.446-2A>G
NM_001113378.2(FANCI):c.446-4C>A rs1178021756
NM_001113378.2(FANCI):c.446-7T>C
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.474dup (p.Gln159fs)
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
NM_001113378.2(FANCI):c.477G>T (p.Gln159His)
NM_001113378.2(FANCI):c.483T>A (p.Ile161=)
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
NM_001113378.2(FANCI):c.489C>G (p.Thr163=)
NM_001113378.2(FANCI):c.490C>T (p.Leu164=)
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr) rs2151054381
NM_001113378.2(FANCI):c.501C>G (p.Gly167=)
NM_001113378.2(FANCI):c.501C>T (p.Gly167=) rs2151271104
NM_001113378.2(FANCI):c.503+19T>G
NM_001113378.2(FANCI):c.503+6T>G
NM_001113378.2(FANCI):c.504-10C>A
NM_001113378.2(FANCI):c.504-10C>T
NM_001113378.2(FANCI):c.504-12T>C
NM_001113378.2(FANCI):c.504-15A>G
NM_001113378.2(FANCI):c.504-16C>T rs1293392490
NM_001113378.2(FANCI):c.504-2A>G
NM_001113378.2(FANCI):c.504-5A>G
NM_001113378.2(FANCI):c.504-7C>T
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val) rs1328734606
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg) rs775891592
NM_001113378.2(FANCI):c.516A>G (p.Gln172=)
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) rs2151291390
NM_001113378.2(FANCI):c.519T>C (p.Tyr173=) rs1392387292
NM_001113378.2(FANCI):c.51G>T (p.Leu17=)
NM_001113378.2(FANCI):c.531C>G (p.Leu177=)
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
NM_001113378.2(FANCI):c.542_545+57del
NM_001113378.2(FANCI):c.545+12C>G rs2052802070
NM_001113378.2(FANCI):c.545+16del
NM_001113378.2(FANCI):c.545+17C>T
NM_001113378.2(FANCI):c.545+18C>T
NM_001113378.2(FANCI):c.545+7A>G rs1439143383
NM_001113378.2(FANCI):c.545+9C>T
NM_001113378.2(FANCI):c.546-18A>G rs2151297022
NM_001113378.2(FANCI):c.546-4A>G
NM_001113378.2(FANCI):c.548A>T (p.Asp183Val)
NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser)
NM_001113378.2(FANCI):c.555T>C (p.Pro185=)
NM_001113378.2(FANCI):c.558G>C (p.Leu186=) rs746658213
NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser)
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu) rs2052827709
NM_001113378.2(FANCI):c.564A>G (p.Ala188=) rs1376947158
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.573G>A (p.Val191=)
NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln)
NM_001113378.2(FANCI):c.576A>G (p.Glu192=)
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
NM_001113378.2(FANCI):c.594A>G (p.Ala198=)
NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile)
NM_001113378.2(FANCI):c.603G>A (p.Met201Ile)
NM_001113378.2(FANCI):c.609C>A (p.Ser203=)
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.624A>G (p.Gln208=)
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser) rs2151297988
NM_001113378.2(FANCI):c.642C>G (p.Val214=) rs2052830189
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe) rs2052830473
NM_001113378.2(FANCI):c.651T>G (p.Leu217=)
NM_001113378.2(FANCI):c.654G>A (p.Leu218=)
NM_001113378.2(FANCI):c.660C>G (p.Leu220=)
NM_001113378.2(FANCI):c.669+15T>C
NM_001113378.2(FANCI):c.669+17_669+18del rs751881445
NM_001113378.2(FANCI):c.669+18T>C
NM_001113378.2(FANCI):c.669+7A>G
NM_001113378.2(FANCI):c.670-11A>G
NM_001113378.2(FANCI):c.670-13G>A
NM_001113378.2(FANCI):c.670-17T>C
NM_001113378.2(FANCI):c.670-18A>G
NM_001113378.2(FANCI):c.670-8_670-6del rs747690719
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val) rs2151304688
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
NM_001113378.2(FANCI):c.690G>A (p.Leu230=)
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.69C>T (p.Thr23=)
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.70C>T (p.Leu24=)
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.741A>G (p.Glu247=) rs2151305242
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+13G>A
NM_001113378.2(FANCI):c.755+14T>C
NM_001113378.2(FANCI):c.755+16T>C
NM_001113378.2(FANCI):c.755+20A>T
NM_001113378.2(FANCI):c.755+3G>A rs2151305411
NM_001113378.2(FANCI):c.756-15T>C
NM_001113378.2(FANCI):c.756-4T>G rs1332788738
NM_001113378.2(FANCI):c.756-6T>C
NM_001113378.2(FANCI):c.756-7C>A
NM_001113378.2(FANCI):c.756-8T>C
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
NM_001113378.2(FANCI):c.760T>C (p.Leu254=) rs1567148345
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del) rs1322941307
NM_001113378.2(FANCI):c.774T>G (p.Thr258=)
NM_001113378.2(FANCI):c.777G>A (p.Val259=)
NM_001113378.2(FANCI):c.777G>T (p.Val259=)
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.816T>C (p.Ile272=) rs746104364
NM_001113378.2(FANCI):c.819A>T (p.Leu273=) rs1596258380
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001113378.2(FANCI):c.827T>C (p.Val276Ala)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
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.84+13A>C
NM_001113378.2(FANCI):c.84+16C>T rs2052052021
NM_001113378.2(FANCI):c.84+17A>G
NM_001113378.2(FANCI):c.84+19G>A rs2151055776
NM_001113378.2(FANCI):c.84+2_84+3del
NM_001113378.2(FANCI):c.84+6dup rs1275602094
NM_001113378.2(FANCI):c.84+7A>T rs2151055602
NM_001113378.2(FANCI):c.840A>G (p.Lys280=)
NM_001113378.2(FANCI):c.849T>C (p.Tyr283=)
NM_001113378.2(FANCI):c.85-10T>C
NM_001113378.2(FANCI):c.85-13T>C
NM_001113378.2(FANCI):c.85-19C>A
NM_001113378.2(FANCI):c.85-19C>G
NM_001113378.2(FANCI):c.85-1G>A
NM_001113378.2(FANCI):c.85-1G>T
NM_001113378.2(FANCI):c.85-22_85-15del
NM_001113378.2(FANCI):c.85-2A>G
NM_001113378.2(FANCI):c.85-8C>G
NM_001113378.2(FANCI):c.85-8_85-5del
NM_001113378.2(FANCI):c.85-8_85-7del
NM_001113378.2(FANCI):c.855A>T (p.Leu285=)
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001113378.2(FANCI):c.867C>T (p.Leu289=)
NM_001113378.2(FANCI):c.870G>C (p.Val290=)
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
NM_001113378.2(FANCI):c.879_882+14del
NM_001113378.2(FANCI):c.882+12C>G
NM_001113378.2(FANCI):c.882+12C>T
NM_001113378.2(FANCI):c.882+15G>A
NM_001113378.2(FANCI):c.882+15G>C
NM_001113378.2(FANCI):c.882+16T>G
NM_001113378.2(FANCI):c.882+18A>G
NM_001113378.2(FANCI):c.882+2T>A rs2053066295
NM_001113378.2(FANCI):c.882+2T>C
NM_001113378.2(FANCI):c.882+6A>G
NM_001113378.2(FANCI):c.883-11C>T
NM_001113378.2(FANCI):c.883-13T>C
NM_001113378.2(FANCI):c.883-4C>G rs2053277160
NM_001113378.2(FANCI):c.883-7C>T
NM_001113378.2(FANCI):c.883-9C>G
NM_001113378.2(FANCI):c.885A>G (p.Val295=) rs1159439786
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.894A>G (p.Gln298=)
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.912_916del (p.Asn304fs)
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>C (p.Asn31=)
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.960A>G (p.Gln320=)
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.975+10dup rs751890595
NM_001113378.2(FANCI):c.975+19A>G
NM_001113378.2(FANCI):c.975+20T>C
NM_001113378.2(FANCI):c.975+23dup
NM_001113378.2(FANCI):c.976-13A>C
NM_001113378.2(FANCI):c.976-1G>T
NM_001113378.2(FANCI):c.976-2_977dup
NM_001113378.2(FANCI):c.976-9A>T
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro) rs2053317531
NM_001113378.2(FANCI):c.996T>G (p.Thr332=)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
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.*1049G>A
NM_001113525.2(ZNF276):c.*1050G>A rs1463777596
NM_001113525.2(ZNF276):c.*1051T>G
NM_001113525.2(ZNF276):c.*1052A>G rs2151712130
NM_001113525.2(ZNF276):c.*1057C>T
NM_001113525.2(ZNF276):c.*1058A>G
NM_001113525.2(ZNF276):c.*1059_*1060del
NM_001113525.2(ZNF276):c.*1062T>C rs2151712162
NM_001113525.2(ZNF276):c.*1212A>C
NM_001113525.2(ZNF276):c.*1212_*1217del
NM_001113525.2(ZNF276):c.*1213G>A rs978377623
NM_001113525.2(ZNF276):c.*1215C>A rs1318852669
NM_001113525.2(ZNF276):c.*1216C>T
NM_001113525.2(ZNF276):c.*1216del
NM_001113525.2(ZNF276):c.*1218G>T
NM_001113525.2(ZNF276):c.*1219T>A
NM_001113525.2(ZNF276):c.*1221G>A
NM_001113525.2(ZNF276):c.*1221G>T
NM_001113525.2(ZNF276):c.*1223T>C rs1383806921
NM_001113525.2(ZNF276):c.*1223T>G rs1383806921
NM_001113525.2(ZNF276):c.*1225G>A
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.*1316C>G rs9282680
NM_001113525.2(ZNF276):c.*1317C>G rs2062071933
NM_001113525.2(ZNF276):c.*1322_*1323delinsGA rs2151713121
NM_001113525.2(ZNF276):c.*1327C>T
NM_001113525.2(ZNF276):c.*1728C>T rs2151714503
NM_001113525.2(ZNF276):c.*1731AGC[1]
NM_001113525.2(ZNF276):c.*1735G>T
NM_001113525.2(ZNF276):c.*1736C>T
NM_001113525.2(ZNF276):c.*1737G>A
NM_001113525.2(ZNF276):c.*1737GT[1] rs1491270557
NM_001113525.2(ZNF276):c.*1739G>C rs201323033
NM_001113525.2(ZNF276):c.*1740T>A
NM_001113525.2(ZNF276):c.*1741_*1742del rs2151714552
NM_001113525.2(ZNF276):c.*1743C>T
NM_001113525.2(ZNF276):c.*1744T>C rs2062087707
NM_001113525.2(ZNF276):c.*1857T>A rs2151714907
NM_001113525.2(ZNF276):c.*1860A>G
NM_001113525.2(ZNF276):c.*1861C>T
NM_001113525.2(ZNF276):c.*1862C>A rs776077648
NM_001113525.2(ZNF276):c.*1867G>A rs762916608
NM_001113525.2(ZNF276):c.*1867G>C
NM_001113525.2(ZNF276):c.*1869G>C
NM_001113525.2(ZNF276):c.*2515_*2543del
NM_001113525.2(ZNF276):c.*2541G>A
NM_001113525.2(ZNF276):c.*2542G>A rs900858198
NM_001113525.2(ZNF276):c.*2542G>T
NM_001113525.2(ZNF276):c.*2546G>C
NM_001113525.2(ZNF276):c.*2546G>T
NM_001113525.2(ZNF276):c.*2548T>G
NM_001113525.2(ZNF276):c.*2551G>A rs1443117288
NM_001113525.2(ZNF276):c.*2551G>C rs1443117288
NM_001113525.2(ZNF276):c.*2623G>A
NM_001113525.2(ZNF276):c.*2625A>G rs2151716900
NM_001113525.2(ZNF276):c.*2632A>G
NM_001113525.2(ZNF276):c.*2633_*2634dup
NM_001113525.2(ZNF276):c.*2635G>A rs749085160
NM_001113525.2(ZNF276):c.*2635G>C rs749085160
NM_001113525.2(ZNF276):c.*2636T>A
NM_001113525.2(ZNF276):c.*2638C>T
NM_001113525.2(ZNF276):c.*2639A>G rs927937594
NM_001113525.2(ZNF276):c.*2640C>A
NM_001113525.2(ZNF276):c.*2640_*2642del
NM_001113525.2(ZNF276):c.*466T>A rs2062032155
NM_001113525.2(ZNF276):c.*467G>A rs2151710015
NM_001113525.2(ZNF276):c.*468AG[2]
NM_001113525.2(ZNF276):c.*468AG[4] rs746081933
NM_001113525.2(ZNF276):c.*469G>C
NM_001113525.2(ZNF276):c.*470A>G rs372268907
NM_001113525.2(ZNF276):c.*471G>A rs368506826
NM_001113525.2(ZNF276):c.*471GAG[1] rs2151710048
NM_001113525.2(ZNF276):c.*472A>G rs2151710055
NM_001113525.2(ZNF276):c.*474G>A rs751989527
NM_001113525.2(ZNF276):c.*474G>T
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001113525.2(ZNF276):c.*478A>G
NM_001113525.2(ZNF276):c.*479G>C
NM_001113525.2(ZNF276):c.*480G>A
NM_001113525.2(ZNF276):c.*482C>A
NM_001113525.2(ZNF276):c.*523_*538del
NM_001113525.2(ZNF276):c.*607_*630del rs2151710539
NM_001113525.2(ZNF276):c.*616G>A rs1019949093
NM_001113525.2(ZNF276):c.*617G>T
NM_001113525.2(ZNF276):c.*620G>A
NM_001113525.2(ZNF276):c.*622C>T
NM_001113525.2(ZNF276):c.*623dup
NM_001113525.2(ZNF276):c.*627T>C rs2151710610
NM_001113525.2(ZNF276):c.*629A>C
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.*732GA[2] rs2062047195
NM_001113525.2(ZNF276):c.*733A>G rs2151710982
NM_001113525.2(ZNF276):c.*734G>A
NM_001113525.2(ZNF276):c.*734G>C
NM_001113525.2(ZNF276):c.*736G>C rs1235913738
NM_001113525.2(ZNF276):c.*737A>C rs1235253861
NM_001113525.2(ZNF276):c.*737A>G rs1235253861
NM_001113525.2(ZNF276):c.*738A>G rs2151711012
NM_001113525.2(ZNF276):c.*741C>G
NM_001113525.2(ZNF276):c.*742A>G rs2151711032
NM_001113525.2(ZNF276):c.*747A>C
NM_001113525.2(ZNF276):c.*814del
NM_001113525.2(ZNF276):c.*867G>T
NM_001113525.2(ZNF276):c.*868G>T
NM_001113525.2(ZNF276):c.*870C>T
NM_001113525.2(ZNF276):c.*872G>A
NM_001113525.2(ZNF276):c.*875C>T rs2151711547
NM_001113525.2(ZNF276):c.*876C>G
NM_001113525.2(ZNF276):c.*879G>C rs772665586
NM_001113525.2(ZNF276):c.*879dup
NM_001271938.2(MEGF8):c.1005A>G (p.Ala335=) rs2039124115
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
NM_001271938.2(MEGF8):c.1014G>A (p.Ala338=)
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.1137G>C (p.Val379=) rs1219090266
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
NM_001271938.2(MEGF8):c.1245-11T>G
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.1497G>A (p.Pro499=)
NM_001271938.2(MEGF8):c.1557G>A (p.Ala519=)
NM_001271938.2(MEGF8):c.1669-8C>T
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.1784_1788+3del
NM_001271938.2(MEGF8):c.1797C>T (p.Ala599=) rs749153853
NM_001271938.2(MEGF8):c.1850C>T (p.Ala617Val)
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.1934-12C>G rs2147465024
NM_001271938.2(MEGF8):c.1934-21_1934-18del rs2039263296
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala) rs2039264644
NM_001271938.2(MEGF8):c.2073G>A (p.Pro691=)
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
NM_001271938.2(MEGF8):c.2340G>A (p.Thr780=) rs776196677
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
NM_001271938.2(MEGF8):c.2355C>A (p.Arg785=)
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser) rs2147472784
NM_001271938.2(MEGF8):c.2500-10C>T
NM_001271938.2(MEGF8):c.261C>T (p.Phe87=)
NM_001271938.2(MEGF8):c.2643C>T (p.Cys881=)
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.2737-20T>A
NM_001271938.2(MEGF8):c.2751G>A (p.Glu917=)
NM_001271938.2(MEGF8):c.2796G>T (p.Arg932=)
NM_001271938.2(MEGF8):c.282G>C (p.Pro94=)
NM_001271938.2(MEGF8):c.2855+12T>C
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
NM_001271938.2(MEGF8):c.291G>T (p.Pro97=)
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
NM_001271938.2(MEGF8):c.2982C>T (p.Asp994=)
NM_001271938.2(MEGF8):c.3057C>T (p.His1019=)
NM_001271938.2(MEGF8):c.3228T>C (p.Asp1076=)
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
NM_001271938.2(MEGF8):c.3294C>T (p.Tyr1098=)
NM_001271938.2(MEGF8):c.3350+12G>A
NM_001271938.2(MEGF8):c.3350+16dup
NM_001271938.2(MEGF8):c.3351-11C>T
NM_001271938.2(MEGF8):c.3426A>G (p.Thr1142=)
NM_001271938.2(MEGF8):c.3441del (p.Thr1149fs)
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val) rs2039399285
NM_001271938.2(MEGF8):c.3498C>T (p.Ser1166=) rs1600051149
NM_001271938.2(MEGF8):c.351+18C>T
NM_001271938.2(MEGF8):c.351+20T>C
NM_001271938.2(MEGF8):c.352-16C>T
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter)
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
NM_001271938.2(MEGF8):c.3588C>T (p.Pro1196=)
NM_001271938.2(MEGF8):c.3761+2T>C
NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)
NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met) rs770399527
NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)
NM_001271938.2(MEGF8):c.4012-4C>G rs1405166507
NM_001271938.2(MEGF8):c.4074G>A (p.Ser1358=)
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
NM_001271938.2(MEGF8):c.4144+4C>T
NM_001271938.2(MEGF8):c.4149G>A (p.Leu1383=)
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
NM_001271938.2(MEGF8):c.4200T>C (p.Ala1400=)
NM_001271938.2(MEGF8):c.4212T>G (p.Ser1404=)
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
NM_001271938.2(MEGF8):c.4251C>T (p.Val1417=)
NM_001271938.2(MEGF8):c.4275C>T (p.Asp1425=)
NM_001271938.2(MEGF8):c.428C>A (p.Pro143Gln)
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4365C>T (p.Ala1455=)
NM_001271938.2(MEGF8):c.4393-19G>C
NM_001271938.2(MEGF8):c.4407C>T (p.Cys1469=)
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
NM_001271938.2(MEGF8):c.4451_4452delinsGCA (p.Leu1484fs)
NM_001271938.2(MEGF8):c.4504-11C>T
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His) rs541874206
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
NM_001271938.2(MEGF8):c.4567T>C (p.Leu1523=) rs2039453501
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg) rs1285619780
NM_001271938.2(MEGF8):c.4623-5C>A
NM_001271938.2(MEGF8):c.4668C>T (p.Ala1556=)
NM_001271938.2(MEGF8):c.4764C>T (p.Thr1588=)
NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly) rs1050352479
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
NM_001271938.2(MEGF8):c.4831-11C>T
NM_001271938.2(MEGF8):c.4968C>T (p.Thr1656=)
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys) rs770879154
NM_001271938.2(MEGF8):c.4989C>A (p.Ala1663=)
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=) rs755932452
NM_001271938.2(MEGF8):c.5025C>T (p.His1675=) rs2147488751
NM_001271938.2(MEGF8):c.5049C>T (p.Thr1683=)
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
NM_001271938.2(MEGF8):c.5100C>A (p.Ala1700=)
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
NM_001271938.2(MEGF8):c.5176-12C>G
NM_001271938.2(MEGF8):c.5176-18C>T
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile) rs761809949
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
NM_001271938.2(MEGF8):c.519G>A (p.Glu173=)
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
NM_001271938.2(MEGF8):c.5275A>G (p.Met1759Val)
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) rs150607375
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe) rs1201933643
NM_001271938.2(MEGF8):c.5343+16G>A
NM_001271938.2(MEGF8):c.5343+17G>A rs2147490241
NM_001271938.2(MEGF8):c.5344-14del
NM_001271938.2(MEGF8):c.5344-16C>A
NM_001271938.2(MEGF8):c.5344-17C>A rs780933404
NM_001271938.2(MEGF8):c.5376G>C (p.Leu1792=) rs2147490712
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
NM_001271938.2(MEGF8):c.5427C>T (p.Phe1809=)
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
NM_001271938.2(MEGF8):c.5478C>T (p.Pro1826=)
NM_001271938.2(MEGF8):c.5489-18T>C
NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His)
NM_001271938.2(MEGF8):c.5577C>T (p.Phe1859=)
NM_001271938.2(MEGF8):c.559-18_559-17del rs2147448565
NM_001271938.2(MEGF8):c.559-5C>T
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr) rs2147493826
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
NM_001271938.2(MEGF8):c.5720+11C>T
NM_001271938.2(MEGF8):c.5720+12G>A
NM_001271938.2(MEGF8):c.5720+19A>C rs2039524149
NM_001271938.2(MEGF8):c.5733G>A (p.Gly1911=)
NM_001271938.2(MEGF8):c.5847G>A (p.Ala1949=)
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.6039G>A (p.Thr2013=)
NM_001271938.2(MEGF8):c.6057A>G (p.Thr2019=)
NM_001271938.2(MEGF8):c.6058+5G>T
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr) rs2147497843
NM_001271938.2(MEGF8):c.6081C>T (p.Ser2027=)
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6087G>A (p.Gln2029=)
NM_001271938.2(MEGF8):c.6105G>A (p.Thr2035=)
NM_001271938.2(MEGF8):c.6163C>T (p.Leu2055=)
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.6267G>A (p.Leu2089=) rs934116600
NM_001271938.2(MEGF8):c.6274-18C>T
NM_001271938.2(MEGF8):c.6274-7C>G
NM_001271938.2(MEGF8):c.6274-7C>T rs772512683
NM_001271938.2(MEGF8):c.6301C>G (p.Arg2101Gly) rs2147506322
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)
NM_001271938.2(MEGF8):c.6312C>T (p.Ala2104=)
NM_001271938.2(MEGF8):c.6381C>T (p.Cys2127=) rs532126083
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
NM_001271938.2(MEGF8):c.6474C>T (p.Pro2158=)
NM_001271938.2(MEGF8):c.6482-16A>G
NM_001271938.2(MEGF8):c.648C>T (p.His216=)
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.682C>T (p.Arg228Cys)
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
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.699C>T (p.Gly233=)
NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
NM_001271938.2(MEGF8):c.7116C>G (p.Leu2372=)
NM_001271938.2(MEGF8):c.7248T>C (p.Arg2416=)
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
NM_001271938.2(MEGF8):c.7269+19G>A
NM_001271938.2(MEGF8):c.7270-5C>T
NM_001271938.2(MEGF8):c.7296C>T (p.His2432=)
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser) rs2039754626
NM_001271938.2(MEGF8):c.735C>T (p.Phe245=)
NM_001271938.2(MEGF8):c.739+11G>C
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys) rs769273382
NM_001271938.2(MEGF8):c.7422C>T (p.Arg2474=)
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.7560C>T (p.Gly2520=)
NM_001271938.2(MEGF8):c.7590A>G (p.Pro2530=)
NM_001271938.2(MEGF8):c.7598C>T (p.Pro2533Leu) rs2147519774
NM_001271938.2(MEGF8):c.7674G>C (p.Pro2558=) rs774279106
NM_001271938.2(MEGF8):c.771C>T (p.Leu257=)
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
NM_001271938.2(MEGF8):c.7743G>A (p.Thr2581=)
NM_001271938.2(MEGF8):c.7758G>A (p.Val2586=)
NM_001271938.2(MEGF8):c.7770C>T (p.Arg2590=)
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.7854C>T (p.Gly2618=)
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
NM_001271938.2(MEGF8):c.7959C>T (p.Ser2653=)
NM_001271938.2(MEGF8):c.7968C>T (p.Phe2656=)
NM_001271938.2(MEGF8):c.7C>T (p.Leu3=)
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8103C>T (p.Thr2701=)
NM_001271938.2(MEGF8):c.8109C>T (p.Cys2703=)
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.828+11del rs2147449280
NM_001271938.2(MEGF8):c.8446G>T (p.Gly2816Cys)
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly) rs2039775950
NM_001271938.2(MEGF8):c.8532C>T (p.Ser2844=)
NM_001271938.2(MEGF8):c.937C>T (p.Leu313=)
NM_001278689.2(EOGT):c.1084-8G>T
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)
NM_001278689.2(EOGT):c.1152+10del
NM_001278689.2(EOGT):c.1152+4A>G
NM_001278689.2(EOGT):c.1153-17T>G
NM_001278689.2(EOGT):c.1158A>G (p.Val386=)
NM_001278689.2(EOGT):c.118A>T (p.Ile40Phe) rs2107402281
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=) rs981266167
NM_001278689.2(EOGT):c.1214+16T>C
NM_001278689.2(EOGT):c.1215-18T>G
NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)
NM_001278689.2(EOGT):c.124T>C (p.Leu42=)
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.1437+11A>G
NM_001278689.2(EOGT):c.1437+15C>G
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.1446T>C (p.His482=)
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)
NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)
NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly)
NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)
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.210+10A>C rs1410315129
NM_001278689.2(EOGT):c.211-9A>G
NM_001278689.2(EOGT):c.252A>G (p.Lys84=)
NM_001278689.2(EOGT):c.280T>C (p.Tyr94His)
NM_001278689.2(EOGT):c.293G>A (p.Ser98Asn)
NM_001278689.2(EOGT):c.300C>G (p.Val100=)
NM_001278689.2(EOGT):c.305T>A (p.Met102Lys)
NM_001278689.2(EOGT):c.311+12del
NM_001278689.2(EOGT):c.312-10T>C rs1559615651
NM_001278689.2(EOGT):c.312-20A>G
NM_001278689.2(EOGT):c.315G>A (p.Thr105=)
NM_001278689.2(EOGT):c.350A>G (p.Lys117Arg)
NM_001278689.2(EOGT):c.404G>C (p.Cys135Ser)
NM_001278689.2(EOGT):c.421-16T>A
NM_001278689.2(EOGT):c.421-19T>C
NM_001278689.2(EOGT):c.421-6C>T
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.45A>C (p.Ser15=)
NM_001278689.2(EOGT):c.469A>G (p.Thr157Ala)
NM_001278689.2(EOGT):c.471C>A (p.Thr157=) rs560607406
NM_001278689.2(EOGT):c.495C>T (p.Asn165=)
NM_001278689.2(EOGT):c.515+17T>C
NM_001278689.2(EOGT):c.516-18T>C
NM_001278689.2(EOGT):c.516-23_516-19del rs373543747
NM_001278689.2(EOGT):c.516-8T>C
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
NM_001278689.2(EOGT):c.585G>A (p.Thr195=)
NM_001278689.2(EOGT):c.599G>A (p.Arg200His)
NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr) rs2091384133
NM_001278689.2(EOGT):c.618A>T (p.Ser206=) rs373952598
NM_001278689.2(EOGT):c.620+16C>T
NM_001278689.2(EOGT):c.620+19A>T
NM_001278689.2(EOGT):c.621-14A>T
NM_001278689.2(EOGT):c.621-14del
NM_001278689.2(EOGT):c.621-2A>T
NM_001278689.2(EOGT):c.647A>G (p.Gln216Arg)
NM_001278689.2(EOGT):c.663T>A (p.Pro221=)
NM_001278689.2(EOGT):c.701C>A (p.Pro234Gln)
NM_001278689.2(EOGT):c.701C>G (p.Pro234Arg) rs766531917
NM_001278689.2(EOGT):c.727+16T>G
NM_001278689.2(EOGT):c.728-7A>C
NM_001278689.2(EOGT):c.754G>A (p.Asp252Asn)
NM_001278689.2(EOGT):c.78_81del (p.His27fs) rs771160630
NM_001278689.2(EOGT):c.79C>T (p.His27Tyr)
NM_001278689.2(EOGT):c.807C>T (p.Asp269=)
NM_001278689.2(EOGT):c.831+10A>T
NM_001278689.2(EOGT):c.831+19T>A
NM_001278689.2(EOGT):c.831+1G>A
NM_001346754.2(PIGW):c.100C>T (p.Leu34=) rs1599476133
NM_001346754.2(PIGW):c.1016_1018del (p.Val339del)
NM_001346754.2(PIGW):c.102G>A (p.Leu34=)
NM_001346754.2(PIGW):c.1030T>C (p.Leu344=)
NM_001346754.2(PIGW):c.1030T>G (p.Leu344Val) rs371945461
NM_001346754.2(PIGW):c.1060_1061del (p.Tyr355fs) rs749338692
NM_001346754.2(PIGW):c.1062_1063del (p.Tyr355fs)
NM_001346754.2(PIGW):c.1063T>C (p.Tyr355His) rs758655367
NM_001346754.2(PIGW):c.106dup (p.Arg36fs)
NM_001346754.2(PIGW):c.1097G>A (p.Arg366Gln) rs769740282
NM_001346754.2(PIGW):c.1110T>C (p.Asn370=) rs1203780630
NM_001346754.2(PIGW):c.1112T>C (p.Leu371Ser)
NM_001346754.2(PIGW):c.1115_1121del (p.Ala372fs) rs779029016
NM_001346754.2(PIGW):c.1132G>A (p.Val378Ile) rs79448900
NM_001346754.2(PIGW):c.1136C>G (p.Ala379Gly) rs1183657483
NM_001346754.2(PIGW):c.1141A>C (p.Ser381Arg) rs2142620901
NM_001346754.2(PIGW):c.116T>C (p.Leu39Pro)
NM_001346754.2(PIGW):c.1172G>A (p.Gly391Asp)
NM_001346754.2(PIGW):c.1178T>C (p.Ile393Thr)
NM_001346754.2(PIGW):c.1183T>C (p.Leu395=) rs2074171167
NM_001346754.2(PIGW):c.1185G>A (p.Leu395=)
NM_001346754.2(PIGW):c.1194C>T (p.Ala398=)
NM_001346754.2(PIGW):c.1202del (p.Leu401fs)
NM_001346754.2(PIGW):c.1238T>C (p.Leu413Pro) rs2142621502
NM_001346754.2(PIGW):c.1238T>G (p.Leu413Arg)
NM_001346754.2(PIGW):c.1240A>C (p.Ile414Leu) rs2142621523
NM_001346754.2(PIGW):c.1246T>C (p.Ser416Pro)
NM_001346754.2(PIGW):c.1249C>G (p.Pro417Ala)
NM_001346754.2(PIGW):c.1256C>A (p.Thr419Lys) rs2142621645
NM_001346754.2(PIGW):c.1271C>G (p.Ser424Ter) rs2074172383
NM_001346754.2(PIGW):c.1277C>T (p.Ser426Phe) rs770369186
NM_001346754.2(PIGW):c.1284C>A (p.Val428=)
NM_001346754.2(PIGW):c.1286C>T (p.Pro429Leu)
NM_001346754.2(PIGW):c.1290A>G (p.Glu430=)
NM_001346754.2(PIGW):c.1297A>C (p.Arg433=) rs1240970102
NM_001346754.2(PIGW):c.12G>A (p.Lys4=)
NM_001346754.2(PIGW):c.1307C>A (p.Pro436His)
NM_001346754.2(PIGW):c.132G>A (p.Gln44=)
NM_001346754.2(PIGW):c.1334A>C (p.Asn445Thr) rs1407125462
NM_001346754.2(PIGW):c.1335C>T (p.Asn445=)
NM_001346754.2(PIGW):c.1349T>C (p.Ile450Thr)
NM_001346754.2(PIGW):c.1359G>A (p.Leu453=)
NM_001346754.2(PIGW):c.1364C>G (p.Ser455Ter)
NM_001346754.2(PIGW):c.1369A>G (p.Ile457Val) rs2142622297
NM_001346754.2(PIGW):c.1388A>C (p.Asn463Thr) rs2142622453
NM_001346754.2(PIGW):c.1411A>G (p.Ser471Gly)
NM_001346754.2(PIGW):c.1421T>C (p.Leu474Ser)
NM_001346754.2(PIGW):c.1426G>A (p.Ala476Thr)
NM_001346754.2(PIGW):c.1433T>C (p.Phe478Ser) rs2074175043
NM_001346754.2(PIGW):c.1446_1447del (p.Met484fs) rs1223732394
NM_001346754.2(PIGW):c.1449T>C (p.Tyr483=)
NM_001346754.2(PIGW):c.144T>C (p.Ser48=)
NM_001346754.2(PIGW):c.1450A>G (p.Met484Val) rs1290721958
NM_001346754.2(PIGW):c.1450_1451del (p.Met484fs) rs768711087
NM_001346754.2(PIGW):c.1476T>C (p.Tyr492=)
NM_001346754.2(PIGW):c.1479A>C (p.Val493=)
NM_001346754.2(PIGW):c.147T>C (p.Phe49=)
NM_001346754.2(PIGW):c.1482A>G (p.Leu494=)
NM_001346754.2(PIGW):c.1501_1502del (p.Val501fs)
NM_001346754.2(PIGW):c.1514G>A (p.Ter505=)
NM_001346754.2(PIGW):c.156C>G (p.Thr52=)
NM_001346754.2(PIGW):c.158G>A (p.Trp53Ter)
NM_001346754.2(PIGW):c.159G>A (p.Trp53Ter)
NM_001346754.2(PIGW):c.15G>C (p.Gln5His)
NM_001346754.2(PIGW):c.15G>T (p.Gln5His)
NM_001346754.2(PIGW):c.171C>T (p.Phe57=)
NM_001346754.2(PIGW):c.190C>T (p.Leu64=)
NM_001346754.2(PIGW):c.213T>G (p.Thr71=) rs764647885
NM_001346754.2(PIGW):c.216G>A (p.Leu72=)
NM_001346754.2(PIGW):c.21G>A (p.Lys7=)
NM_001346754.2(PIGW):c.222T>C (p.Ile74=)
NM_001346754.2(PIGW):c.234T>A (p.Phe78Leu)
NM_001346754.2(PIGW):c.234T>C (p.Phe78=) rs767714420
NM_001346754.2(PIGW):c.252C>T (p.Leu84=)
NM_001346754.2(PIGW):c.262A>G (p.Ile88Val)
NM_001346754.2(PIGW):c.271_272delinsAT (p.Ala91Ile) rs2142614917
NM_001346754.2(PIGW):c.291del (p.Tyr98fs)
NM_001346754.2(PIGW):c.294C>T (p.Tyr98=)
NM_001346754.2(PIGW):c.296G>A (p.Arg99Gln)
NM_001346754.2(PIGW):c.296G>C (p.Arg99Pro) rs769619152
NM_001346754.2(PIGW):c.308G>T (p.Cys103Phe) rs2142615234
NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)
NM_001346754.2(PIGW):c.322C>T (p.Pro108Ser)
NM_001346754.2(PIGW):c.323C>T (p.Pro108Leu)
NM_001346754.2(PIGW):c.328C>G (p.Leu110Val) rs2074157511
NM_001346754.2(PIGW):c.359G>A (p.Ser120Asn) rs1433821334
NM_001346754.2(PIGW):c.360T>C (p.Ser120=) rs1191251061
NM_001346754.2(PIGW):c.385A>G (p.Ile129Val)
NM_001346754.2(PIGW):c.400G>A (p.Val134Ile)
NM_001346754.2(PIGW):c.407C>G (p.Thr136Ser) rs762208126
NM_001346754.2(PIGW):c.410G>A (p.Ser137Asn) rs2142615931
NM_001346754.2(PIGW):c.413C>T (p.Ala138Val)
NM_001346754.2(PIGW):c.436G>T (p.Ala146Ser)
NM_001346754.2(PIGW):c.455T>G (p.Phe152Cys)
NM_001346754.2(PIGW):c.460AGA[1] (p.Arg155del) rs763712145
NM_001346754.2(PIGW):c.465A>C (p.Arg155Ser) rs2142616280
NM_001346754.2(PIGW):c.485A>G (p.Tyr162Cys) rs757111382
NM_001346754.2(PIGW):c.488G>T (p.Gly163Val) rs2142616351
NM_001346754.2(PIGW):c.501G>C (p.Met167Ile)
NM_001346754.2(PIGW):c.530G>A (p.Gly177Glu) rs2142616545
NM_001346754.2(PIGW):c.537A>G (p.Ala179=)
NM_001346754.2(PIGW):c.547C>G (p.Leu183Val)
NM_001346754.2(PIGW):c.54C>G (p.Thr18=) rs529378174
NM_001346754.2(PIGW):c.54C>T (p.Thr18=) rs529378174
NM_001346754.2(PIGW):c.558dup (p.Arg187fs) rs2142616752
NM_001346754.2(PIGW):c.55G>A (p.Val19Met)
NM_001346754.2(PIGW):c.563G>C (p.Arg188Thr)
NM_001346754.2(PIGW):c.58C>T (p.Leu20=) rs1439603716
NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)
NM_001346754.2(PIGW):c.600A>G (p.Thr200=)
NM_001346754.2(PIGW):c.606_608del (p.Leu203del) rs2074161776
NM_001346754.2(PIGW):c.607T>C (p.Leu203=)
NM_001346754.2(PIGW):c.608T>C (p.Leu203Ser)
NM_001346754.2(PIGW):c.613T>G (p.Ser205Ala)
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001346754.2(PIGW):c.619T>A (p.Trp207Arg) rs1334939813
NM_001346754.2(PIGW):c.623C>T (p.Pro208Leu)
NM_001346754.2(PIGW):c.634C>T (p.Leu212=)
NM_001346754.2(PIGW):c.643G>A (p.Gly215Arg)
NM_001346754.2(PIGW):c.660A>G (p.Ile220Met)
NM_001346754.2(PIGW):c.677A>G (p.Gln226Arg) rs1337758912
NM_001346754.2(PIGW):c.683A>G (p.His228Arg)
NM_001346754.2(PIGW):c.684T>C (p.His228=) rs1426728899
NM_001346754.2(PIGW):c.699A>T (p.Gly233=)
NM_001346754.2(PIGW):c.704A>G (p.His235Arg) rs1157493972
NM_001346754.2(PIGW):c.708del (p.His235_Trp236insTer) rs764773930
NM_001346754.2(PIGW):c.723C>A (p.Thr241=)
NM_001346754.2(PIGW):c.723C>T (p.Thr241=)
NM_001346754.2(PIGW):c.728T>C (p.Ile243Thr)
NM_001346754.2(PIGW):c.749C>T (p.Pro250Leu) rs1201986978
NM_001346754.2(PIGW):c.74G>A (p.Gly25Glu) rs2142613690
NM_001346754.2(PIGW):c.750A>G (p.Pro250=)
NM_001346754.2(PIGW):c.759G>A (p.Leu253=)
NM_001346754.2(PIGW):c.768T>C (p.Phe256=)
NM_001346754.2(PIGW):c.775_776del (p.Leu258_Asn259insTer)
NM_001346754.2(PIGW):c.776A>G (p.Asn259Ser)
NM_001346754.2(PIGW):c.801C>T (p.Gly267=)
NM_001346754.2(PIGW):c.806C>G (p.Thr269Ser) rs2142618358
NM_001346754.2(PIGW):c.810A>G (p.Val270=)
NM_001346754.2(PIGW):c.826C>T (p.Leu276Phe) rs2074165401
NM_001346754.2(PIGW):c.833T>G (p.Phe278Cys)
NM_001346754.2(PIGW):c.840A>G (p.Ser280=)
NM_001346754.2(PIGW):c.841C>T (p.Leu281=) rs2142618552
NM_001346754.2(PIGW):c.849G>A (p.Arg283=)
NM_001346754.2(PIGW):c.856T>C (p.Leu286=) rs2074165957
NM_001346754.2(PIGW):c.858A>G (p.Leu286=) rs750915031
NM_001346754.2(PIGW):c.863G>T (p.Gly288Val) rs1745821520
NM_001346754.2(PIGW):c.863del (p.Gly288fs) rs753213838
NM_001346754.2(PIGW):c.871G>T (p.Gly291Cys) rs2142618795
NM_001346754.2(PIGW):c.879C>T (p.Gly293=)
NM_001346754.2(PIGW):c.885G>C (p.Arg295=)
NM_001346754.2(PIGW):c.891T>G (p.Gly297=)
NM_001346754.2(PIGW):c.894A>C (p.Leu298=) rs1483319678
NM_001346754.2(PIGW):c.901G>T (p.Ala301Ser)
NM_001346754.2(PIGW):c.905A>G (p.Asn302Ser) rs773486077
NM_001346754.2(PIGW):c.905A>T (p.Asn302Ile) rs773486077
NM_001346754.2(PIGW):c.906C>T (p.Asn302=)
NM_001346754.2(PIGW):c.907C>T (p.Arg303Cys)
NM_001346754.2(PIGW):c.915AAT[1] (p.Ile307del) rs2142619101
NM_001346754.2(PIGW):c.924T>C (p.Ser308=)
NM_001346754.2(PIGW):c.925A>G (p.Thr309Ala)
NM_001346754.2(PIGW):c.937G>C (p.Val313Leu) rs2142619250
NM_001346754.2(PIGW):c.965C>T (p.Thr322Ile) rs2074167451
NM_001346754.2(PIGW):c.966A>G (p.Thr322=) rs754169928
NM_001346754.2(PIGW):c.966A>T (p.Thr322=)
NM_001346754.2(PIGW):c.979C>T (p.His327Tyr)
NM_001346754.2(PIGW):c.980A>G (p.His327Arg) rs528500343
NM_001346754.2(PIGW):c.989G>A (p.Arg330Gln) rs147971755
NM_001346754.2(PIGW):c.989G>T (p.Arg330Leu) rs147971755
NM_001374353.1(GLI2):c.1022T>G (p.Leu341Arg)
NM_001374353.1(GLI2):c.1059+20A>G
NM_001374353.1(GLI2):c.1060-12A>G
NM_001374353.1(GLI2):c.1079C>T (p.Ser360Leu)
NM_001374353.1(GLI2):c.1083C>T (p.Ala361=)
NM_001374353.1(GLI2):c.109G>A (p.Val37Met)
NM_001374353.1(GLI2):c.1136C>A (p.Thr379Asn)
NM_001374353.1(GLI2):c.1137C>T (p.Thr379=)
NM_001374353.1(GLI2):c.1177A>G (p.Thr393Ala)
NM_001374353.1(GLI2):c.1179G>A (p.Thr393=)
NM_001374353.1(GLI2):c.1183-4C>T rs1682382173
NM_001374353.1(GLI2):c.1183-65C>T
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.1318-14T>C
NM_001374353.1(GLI2):c.1330G>A (p.Glu444Lys)
NM_001374353.1(GLI2):c.1341C>T (p.His447=)
NM_001374353.1(GLI2):c.1342G>A (p.Gly448Arg)
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter) rs1553476382
NM_001374353.1(GLI2):c.1393A>T (p.Lys465Ter)
NM_001374353.1(GLI2):c.140C>T (p.Ala47Val)
NM_001374353.1(GLI2):c.1428C>T (p.His476=)
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.1467+9C>T
NM_001374353.1(GLI2):c.1468-12G>A
NM_001374353.1(GLI2):c.1468-13C>A
NM_001374353.1(GLI2):c.1468-13C>T
NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)
NM_001374353.1(GLI2):c.1472A>C (p.Glu491Ala)
NM_001374353.1(GLI2):c.148+12T>A rs2104697160
NM_001374353.1(GLI2):c.148+20C>T
NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del) rs1682772612
NM_001374353.1(GLI2):c.149-877_238del
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.1560C>T (p.His520=)
NM_001374353.1(GLI2):c.1584C>G (p.Ser528=) rs2105064545
NM_001374353.1(GLI2):c.1589C>T (p.Ala530Val)
NM_001374353.1(GLI2):c.1599C>T (p.Arg533=)
NM_001374353.1(GLI2):c.1633-14G>T
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.1731C>T (p.His577=)
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.1833C>T (p.Thr611=)
NM_001374353.1(GLI2):c.1868G>C (p.Cys623Ser)
NM_001374353.1(GLI2):c.1897A>C (p.Ser633Arg)
NM_001374353.1(GLI2):c.1899C>T (p.Ser633=)
NM_001374353.1(GLI2):c.1902C>T (p.Ser634=)
NM_001374353.1(GLI2):c.1903G>A (p.Gly635Arg)
NM_001374353.1(GLI2):c.1905+12T>C
NM_001374353.1(GLI2):c.1905+1G>A rs1558937172
NM_001374353.1(GLI2):c.1905+3A>G
NM_001374353.1(GLI2):c.1907T>C (p.Leu636Pro) rs1373160690
NM_001374353.1(GLI2):c.1923C>G (p.Pro641=)
NM_001374353.1(GLI2):c.1929C>T (p.Ala643=) rs1682970189
NM_001374353.1(GLI2):c.192dup (p.Asp65Ter) rs1388607733
NM_001374353.1(GLI2):c.1932G>A (p.Gln644=)
NM_001374353.1(GLI2):c.1934C>A (p.Ser645Ter)
NM_001374353.1(GLI2):c.1934C>T (p.Ser645Leu)
NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)
NM_001374353.1(GLI2):c.2028C>A (p.Asp676Glu)
NM_001374353.1(GLI2):c.2033C>T (p.Thr678Met)
NM_001374353.1(GLI2):c.2064C>T (p.Asp688=)
NM_001374353.1(GLI2):c.2088C>T (p.Ser696=)
NM_001374353.1(GLI2):c.2089G>T (p.Ala697Ser)
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu) rs151179617
NM_001374353.1(GLI2):c.2136C>T (p.Phe712=) rs151179617
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.2196G>A (p.Pro732=)
NM_001374353.1(GLI2):c.2209C>A (p.Arg737=) rs138932004
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.2242+18G>T
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.2403C>T (p.Thr801=) rs1440441101
NM_001374353.1(GLI2):c.2440_2442del (p.Ser815del) rs770837314
NM_001374353.1(GLI2):c.2453C>G (p.Ser818Cys)
NM_001374353.1(GLI2):c.2466G>A (p.Ser822=)
NM_001374353.1(GLI2):c.2481C>G (p.Gly827=)
NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)
NM_001374353.1(GLI2):c.2561A>G (p.Gln854Arg)
NM_001374353.1(GLI2):c.2577C>T (p.Ser859=)
NM_001374353.1(GLI2):c.2580G>A (p.Gly860=)
NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)
NM_001374353.1(GLI2):c.258C>T (p.Pro86=)
NM_001374353.1(GLI2):c.2617C>A (p.Arg873=)
NM_001374353.1(GLI2):c.2631G>C (p.Ala877=)
NM_001374353.1(GLI2):c.2651del (p.Pro884fs)
NM_001374353.1(GLI2):c.2652G>T (p.Pro884=) rs926908365
NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val)
NM_001374353.1(GLI2):c.2714C>T (p.Ala905Val)
NM_001374353.1(GLI2):c.2715G>T (p.Ala905=)
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.2748C>T (p.Arg916=)
NM_001374353.1(GLI2):c.2751A>C (p.Pro917=)
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.2877C>T (p.Pro959=)
NM_001374353.1(GLI2):c.2883C>G (p.Ala961=)
NM_001374353.1(GLI2):c.2893C>A (p.Pro965Thr)
NM_001374353.1(GLI2):c.2905C>T (p.Arg969Cys)
NM_001374353.1(GLI2):c.292A>G (p.Ile98Val)
NM_001374353.1(GLI2):c.2933C>G (p.Pro978Arg)
NM_001374353.1(GLI2):c.2949C>T (p.Pro983=)
NM_001374353.1(GLI2):c.294C>G (p.Ile98Met)
NM_001374353.1(GLI2):c.2956G>A (p.Asp986Asn)
NM_001374353.1(GLI2):c.2982C>T (p.Ser994=)
NM_001374353.1(GLI2):c.3007G>C (p.Ala1003Pro)
NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)
NM_001374353.1(GLI2):c.3020A>G (p.Tyr1007Cys)
NM_001374353.1(GLI2):c.304C>T (p.Arg102Trp)
NM_001374353.1(GLI2):c.3072G>C (p.Ala1024=)
NM_001374353.1(GLI2):c.3084C>T (p.Asp1028=)
NM_001374353.1(GLI2):c.3090G>A (p.Ala1030=) rs749578390
NM_001374353.1(GLI2):c.3117G>A (p.Pro1039=)
NM_001374353.1(GLI2):c.3172A>G (p.Ser1058Gly)
NM_001374353.1(GLI2):c.317A>G (p.His106Arg)
NM_001374353.1(GLI2):c.3195C>T (p.Thr1065=)
NM_001374353.1(GLI2):c.3196G>A (p.Gly1066Arg)
NM_001374353.1(GLI2):c.322del (p.Ala108fs) rs1553471273
NM_001374353.1(GLI2):c.3230C>T (p.Ser1077Phe)
NM_001374353.1(GLI2):c.3255G>A (p.Pro1085=)
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.3418C>T (p.Leu1140=) rs141988240
NM_001374353.1(GLI2):c.3423C>A (p.Ala1141=)
NM_001374353.1(GLI2):c.3459C>G (p.Asn1153Lys)
NM_001374353.1(GLI2):c.3465G>A (p.Ala1155=) rs141356812
NM_001374353.1(GLI2):c.3466G>T (p.Val1156Leu)
NM_001374353.1(GLI2):c.3468G>T (p.Val1156=)
NM_001374353.1(GLI2):c.3482C>G (p.Pro1161Arg) rs2105092684
NM_001374353.1(GLI2):c.3501G>A (p.Pro1167=)
NM_001374353.1(GLI2):c.3504C>T (p.Gly1168=)
NM_001374353.1(GLI2):c.3552G>A (p.Thr1184=)
NM_001374353.1(GLI2):c.3567del (p.Gln1189fs) rs1683179008
NM_001374353.1(GLI2):c.3577G>A (p.Gly1193Arg)
NM_001374353.1(GLI2):c.3583C>T (p.Pro1195Ser)
NM_001374353.1(GLI2):c.3585C>T (p.Pro1195=)
NM_001374353.1(GLI2):c.3603G>A (p.Arg1201=) rs2105093446
NM_001374353.1(GLI2):c.3612C>T (p.Tyr1204=)
NM_001374353.1(GLI2):c.3624G>T (p.Leu1208=)
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.3699C>T (p.Val1233=) rs1195795024
NM_001374353.1(GLI2):c.3701A>C (p.His1234Pro)
NM_001374353.1(GLI2):c.3706C>G (p.Gln1236Glu)
NM_001374353.1(GLI2):c.3732G>T (p.Gly1244=)
NM_001374353.1(GLI2):c.3766A>G (p.Met1256Val)
NM_001374353.1(GLI2):c.3839A>G (p.Asn1280Ser)
NM_001374353.1(GLI2):c.3841C>T (p.Arg1281Cys)
NM_001374353.1(GLI2):c.3879T>C (p.Ala1293=)
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.3951G>A (p.Gln1317=)
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.4023G>A (p.Pro1341=)
NM_001374353.1(GLI2):c.4028G>C (p.Gly1343Ala)
NM_001374353.1(GLI2):c.4039G>A (p.Ala1347Thr)
NM_001374353.1(GLI2):c.4074C>T (p.Leu1358=)
NM_001374353.1(GLI2):c.4110T>G (p.Arg1370=)
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.4254C>T (p.Asp1418=)
NM_001374353.1(GLI2):c.4258G>A (p.Gly1420Ser) rs149163880
NM_001374353.1(GLI2):c.4269G>A (p.Pro1423=)
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe) rs1553479775
NM_001374353.1(GLI2):c.4292A>G (p.Tyr1431Cys)
NM_001374353.1(GLI2):c.4311C>G (p.Tyr1437Ter)
NM_001374353.1(GLI2):c.4327C>T (p.Leu1443=)
NM_001374353.1(GLI2):c.4338C>T (p.Leu1446=)
NM_001374353.1(GLI2):c.4357C>T (p.Arg1453Trp)
NM_001374353.1(GLI2):c.4361C>G (p.Ser1454Cys)
NM_001374353.1(GLI2):c.4404C>G (p.Pro1468=)
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.449C>T (p.Pro150Leu) rs2104951410
NM_001374353.1(GLI2):c.4504G>A (p.Gly1502Ser)
NM_001374353.1(GLI2):c.4509T>C (p.Asp1503=)
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu) rs148902971
NM_001374353.1(GLI2):c.4515G>A (p.Ser1505=)
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.4552C>T (p.His1518Tyr)
NM_001374353.1(GLI2):c.4560C>A (p.Leu1520=) rs1335405295
NM_001374353.1(GLI2):c.4560C>T (p.Leu1520=)
NM_001374353.1(GLI2):c.4586C>T (p.Thr1529Ile)
NM_001374353.1(GLI2):c.4620C>T (p.Pro1540=)
NM_001374353.1(GLI2):c.4621G>A (p.Ala1541Thr)
NM_001374353.1(GLI2):c.4644C>T (p.Val1548=)
NM_001374353.1(GLI2):c.4677C>T (p.Ala1559=)
NM_001374353.1(GLI2):c.493G>T (p.Gly165Cys)
NM_001374353.1(GLI2):c.49del (p.Ser17fs) rs2104696745
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.564G>A (p.Ala188=)
NM_001374353.1(GLI2):c.621C>T (p.His207=)
NM_001374353.1(GLI2):c.643+15_643+16delinsTG rs2104965814
NM_001374353.1(GLI2):c.643+16C>A
NM_001374353.1(GLI2):c.643+16C>G rs6718382
NM_001374353.1(GLI2):c.644-11C>T
NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys)
NM_001374353.1(GLI2):c.654C>T (p.Phe218=)
NM_001374353.1(GLI2):c.66C>T (p.Ala22=)
NM_001374353.1(GLI2):c.693G>A (p.Arg231=)
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro) rs1558923316
NM_001374353.1(GLI2):c.75C>T (p.Phe25=)
NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)
NM_001374353.1(GLI2):c.770T>C (p.Val257Ala) rs1573698341
NM_001374353.1(GLI2):c.789_826del (p.Arg264fs) rs1681993062
NM_001374353.1(GLI2):c.804G>A (p.Ala268=)
NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln)
NM_001374353.1(GLI2):c.845+17A>G
NM_001374353.1(GLI2):c.861C>T (p.Phe287=) rs2105019550
NM_001374353.1(GLI2):c.862C>T (p.Pro288Ser)
NM_001374353.1(GLI2):c.908A>C (p.Gln303Pro)
NM_001374353.1(GLI2):c.945C>T (p.Pro315=)
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_001374353.1(GLI2):c.9dup (p.Ser4fs)
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
NM_001429.4(EP300):c.104C>G (p.Ser35Cys) rs2145696235
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
NM_001429.4(EP300):c.1169-11C>G
NM_001429.4(EP300):c.1169-11C>T
NM_001429.4(EP300):c.1169-12T>C
NM_001429.4(EP300):c.1169-19T>A
NM_001429.4(EP300):c.1169-4T>C
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1282C>T (p.Pro428Ser)
NM_001429.4(EP300):c.1283-14T>C
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1283-19dup
NM_001429.4(EP300):c.1283-20A>G
NM_001429.4(EP300):c.1283-6C>G
NM_001429.4(EP300):c.1293T>C (p.Thr431=)
NM_001429.4(EP300):c.1308A>G (p.Gly436=)
NM_001429.4(EP300):c.1334T>A (p.Val445Glu)
NM_001429.4(EP300):c.1351C>G (p.Pro451Ala) rs151308825
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
NM_001429.4(EP300):c.1355A>G (p.Asn452Ser)
NM_001429.4(EP300):c.1357C>G (p.Leu453Val)
NM_001429.4(EP300):c.1366G>A (p.Val456Ile)
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.1449A>C (p.Gln483His)
NM_001429.4(EP300):c.1456G>C (p.Val486Leu)
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
NM_001429.4(EP300):c.1528+17C>G
NM_001429.4(EP300):c.1529-12A>G
NM_001429.4(EP300):c.1529-19T>G
NM_001429.4(EP300):c.1541T>C (p.Met514Thr) rs758573292
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu)
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala)
NM_001429.4(EP300):c.156A>G (p.Glu52=)
NM_001429.4(EP300):c.1585T>C (p.Ser529Pro)
NM_001429.4(EP300):c.1622+10A>T
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn) rs547550163
NM_001429.4(EP300):c.1635T>A (p.Ser545Arg)
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.1663C>T (p.Pro555Ser)
NM_001429.4(EP300):c.1666A>G (p.Met556Val)
NM_001429.4(EP300):c.1671A>G (p.Pro557=)
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.1683A>G (p.Gln561=)
NM_001429.4(EP300):c.1686A>G (p.Pro562=)
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
NM_001429.4(EP300):c.1729del (p.Gln577fs)
NM_001429.4(EP300):c.1760+11T>C
NM_001429.4(EP300):c.1761-10C>G
NM_001429.4(EP300):c.1761-16G>A
NM_001429.4(EP300):c.1761C>T (p.Leu587=)
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp)
NM_001429.4(EP300):c.1814dup (p.Met605fs)
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
NM_001429.4(EP300):c.1839G>A (p.Arg613=)
NM_001429.4(EP300):c.1878+19dup
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.189G>C (p.Gln63His)
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
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.2034G>A (p.Pro678=)
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg)
NM_001429.4(EP300):c.2052T>G (p.Ser684=)
NM_001429.4(EP300):c.2053+17A>G
NM_001429.4(EP300):c.2053+18T>C
NM_001429.4(EP300):c.2053+5G>C
NM_001429.4(EP300):c.2053+8_2053+11del
NM_001429.4(EP300):c.2054-16C>T
NM_001429.4(EP300):c.2054-19T>C
NM_001429.4(EP300):c.2067T>C (p.Pro689=)
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.208A>G (p.Met70Val)
NM_001429.4(EP300):c.2093T>C (p.Val698Ala)
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr)
NM_001429.4(EP300):c.2131+24dup rs766192274
NM_001429.4(EP300):c.2132-11C>G
NM_001429.4(EP300):c.2132-15T>C
NM_001429.4(EP300):c.2132-8A>T
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr)
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)
NM_001429.4(EP300):c.2184G>A (p.Arg728=)
NM_001429.4(EP300):c.2184G>T (p.Arg728=)
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.2242-15T>G
NM_001429.4(EP300):c.2242-17T>G
NM_001429.4(EP300):c.2242-7T>C
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
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.2285G>A (p.Gly762Asp)
NM_001429.4(EP300):c.2302A>G (p.Thr768Ala)
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2380-19_2380-15del
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
NM_001429.4(EP300):c.2505A>G (p.Val835=)
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu)
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile)
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala)
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp)
NM_001429.4(EP300):c.2550G>T (p.Gly850=)
NM_001429.4(EP300):c.2567CAA[2] (p.Thr858del)
NM_001429.4(EP300):c.2567CAA[4] (p.Thr858_Ile859insThr)
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
NM_001429.4(EP300):c.2591C>T (p.Pro864Leu)
NM_001429.4(EP300):c.2598T>A (p.Pro866=)
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
NM_001429.4(EP300):c.2632C>T (p.Leu878=)
NM_001429.4(EP300):c.2636A>C (p.His879Pro)
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.2676A>G (p.Gln892=)
NM_001429.4(EP300):c.2690T>C (p.Val897Ala)
NM_001429.4(EP300):c.2720C>T (p.Ala907Val)
NM_001429.4(EP300):c.2730C>T (p.Pro910=)
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
NM_001429.4(EP300):c.2757C>T (p.Ser919=)
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
NM_001429.4(EP300):c.2802G>T (p.Pro934=)
NM_001429.4(EP300):c.2805G>A (p.Gln935=)
NM_001429.4(EP300):c.2818-18C>T
NM_001429.4(EP300):c.2818-19C>A
NM_001429.4(EP300):c.2818-20T>G
NM_001429.4(EP300):c.2818-5C>T
NM_001429.4(EP300):c.2818-8C>G
NM_001429.4(EP300):c.2829A>G (p.Pro943=)
NM_001429.4(EP300):c.2838C>G (p.Ser946Arg) rs2059047440
NM_001429.4(EP300):c.2864C>A (p.Pro955Gln)
NM_001429.4(EP300):c.2868T>C (p.Ser956=)
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.287G>A (p.Gly96Glu)
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)
NM_001429.4(EP300):c.2894A>T (p.Gln965Leu)
NM_001429.4(EP300):c.2898C>T (p.Ala966=)
NM_001429.4(EP300):c.28C>T (p.Pro10Ser) rs2145665490
NM_001429.4(EP300):c.2913G>C (p.Gln971His)
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)
NM_001429.4(EP300):c.2940C>T (p.Ala980=)
NM_001429.4(EP300):c.2946G>A (p.Met982Ile)
NM_001429.4(EP300):c.2955T>A (p.Asp985Glu)
NM_001429.4(EP300):c.2965C>A (p.Pro989Thr)
NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)
NM_001429.4(EP300):c.2975C>G (p.Thr992Ser)
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.2997+10G>A
NM_001429.4(EP300):c.2997+14A>G
NM_001429.4(EP300):c.2998-13C>T
NM_001429.4(EP300):c.2998-13del
NM_001429.4(EP300):c.2998-3del rs528974321
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) rs775368605
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
NM_001429.4(EP300):c.3118G>A (p.Ala1040Thr) rs2145741097
NM_001429.4(EP300):c.3123A>G (p.Pro1041=)
NM_001429.4(EP300):c.3138A>G (p.Lys1046=)
NM_001429.4(EP300):c.3142+17A>T
NM_001429.4(EP300):c.3142+20C>T
NM_001429.4(EP300):c.3142+8T>C
NM_001429.4(EP300):c.3143-12T>C
NM_001429.4(EP300):c.3143-15C>A
NM_001429.4(EP300):c.3143-3A>T rs749597275
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3143-5_3143-4dup rs757931697
NM_001429.4(EP300):c.3143-6_3143-4dup
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser) rs2059069019
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
NM_001429.4(EP300):c.320A>G (p.Gln107Arg)
NM_001429.4(EP300):c.3216C>T (p.Ser1072=)
NM_001429.4(EP300):c.3258C>A (p.Ile1086=)
NM_001429.4(EP300):c.3261+11G>A
NM_001429.4(EP300):c.3261+14G>A
NM_001429.4(EP300):c.3261+3A>G
NM_001429.4(EP300):c.3261+8T>G
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile)
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3357T>C (p.Asp1119=)
NM_001429.4(EP300):c.338C>T (p.Pro113Leu)
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
NM_001429.4(EP300):c.33T>A (p.Pro11=)
NM_001429.4(EP300):c.3410G>A (p.Arg1137Gln)
NM_001429.4(EP300):c.3417C>T (p.Tyr1139=) rs952398016
NM_001429.4(EP300):c.342A>G (p.Gly114=)
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
NM_001429.4(EP300):c.3458T>A (p.Ile1153Asn)
NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu)
NM_001429.4(EP300):c.346G>A (p.Gly116Ser)
NM_001429.4(EP300):c.3534C>T (p.Tyr1178=)
NM_001429.4(EP300):c.3553A>G (p.Ile1185Val)
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala)
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp) rs1340981566
NM_001429.4(EP300):c.3590+4A>T
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3624C>T (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
NM_001429.4(EP300):c.3671+16A>C
NM_001429.4(EP300):c.3671+5_3671+7dup
NM_001429.4(EP300):c.3672_3673dup (p.Thr1225fs)
NM_001429.4(EP300):c.3675A>G (p.Thr1225=)
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3684del (p.Glu1229fs) rs2145754777
NM_001429.4(EP300):c.3686A>G (p.Glu1229Gly)
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
NM_001429.4(EP300):c.3707dup (p.Asn1236fs) rs1601628237
NM_001429.4(EP300):c.3711C>T (p.Asp1237=)
NM_001429.4(EP300):c.3728+13C>T
NM_001429.4(EP300):c.3728+8C>T
NM_001429.4(EP300):c.3728+9G>A
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
NM_001429.4(EP300):c.3729-1G>T rs2145756375
NM_001429.4(EP300):c.3729-6T>C
NM_001429.4(EP300):c.3729-8T>C
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
NM_001429.4(EP300):c.3800CTG[1] (p.Ala1268del)
NM_001429.4(EP300):c.3802G>T (p.Ala1268Ser)
NM_001429.4(EP300):c.3806+11A>G
NM_001429.4(EP300):c.3806+12C>T
NM_001429.4(EP300):c.3806+13G>A
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3807-12G>A
NM_001429.4(EP300):c.3807-7C>T
NM_001429.4(EP300):c.3810C>T (p.Phe1270=)
NM_001429.4(EP300):c.3819T>C (p.Asp1273=)
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.3874+13C>T
NM_001429.4(EP300):c.3875-19_3875-18del
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.3996C>T (p.Thr1332=) rs142288817
NM_001429.4(EP300):c.4005A>G (p.Val1335=) rs1462493430
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.4025+12T>A
NM_001429.4(EP300):c.4026-11C>T
NM_001429.4(EP300):c.4026-12T>G
NM_001429.4(EP300):c.4026-9A>G rs2059153923
NM_001429.4(EP300):c.4044G>T (p.Glu1348Asp)
NM_001429.4(EP300):c.4065C>G (p.Tyr1355Ter) rs886043598
NM_001429.4(EP300):c.4065C>T (p.Tyr1355=)
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter) rs1440862488
NM_001429.4(EP300):c.4067G>C (p.Arg1356Pro)
NM_001429.4(EP300):c.4070C>A (p.Thr1357Asn)
NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs) rs2059154269
NM_001429.4(EP300):c.4149T>C (p.Ser1383=)
NM_001429.4(EP300):c.4155C>T (p.Cys1385=)
NM_001429.4(EP300):c.4172+11C>T
NM_001429.4(EP300):c.4172+16A>C
NM_001429.4(EP300):c.4172+5del
NM_001429.4(EP300):c.4172+7C>T
NM_001429.4(EP300):c.4173-15C>G
NM_001429.4(EP300):c.4173-17C>A
NM_001429.4(EP300):c.4173-4A>G
NM_001429.4(EP300):c.4186T>C (p.Ser1396Pro)
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
NM_001429.4(EP300):c.4216_4219dup (p.Lys1407delinsThrTer) rs2145765098
NM_001429.4(EP300):c.4221A>G (p.Lys1407=)
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.4287-20C>G
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4353T>C (p.His1451=)
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr)
NM_001429.4(EP300):c.4360G>C (p.Asp1454His)
NM_001429.4(EP300):c.4377G>A (p.Lys1459=)
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4444_4445dup (p.Asp1482fs)
NM_001429.4(EP300):c.4452+18G>A rs548353389
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
NM_001429.4(EP300):c.4453-6T>C
NM_001429.4(EP300):c.4465C>T (p.Gln1489Ter)
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4512C>T (p.Phe1504=)
NM_001429.4(EP300):c.4513G>T (p.Glu1505Ter)
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del)
NM_001429.4(EP300):c.457A>G (p.Met153Val)
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
NM_001429.4(EP300):c.4595del (p.Asn1532fs)
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
NM_001429.4(EP300):c.4611C>A (p.Ser1537Arg)
NM_001429.4(EP300):c.4617+10T>C
NM_001429.4(EP300):c.4617+13A>G
NM_001429.4(EP300):c.4617+17dup
NM_001429.4(EP300):c.4617+9A>C
NM_001429.4(EP300):c.4618-18_4618-17delinsTC
NM_001429.4(EP300):c.4618-19C>T
NM_001429.4(EP300):c.4618-9A>G
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn)
NM_001429.4(EP300):c.4668C>T (p.Thr1556=)
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4723A>G (p.Asn1575Asp)
NM_001429.4(EP300):c.4735G>T (p.Asp1579Tyr)
NM_001429.4(EP300):c.4740C>T (p.Leu1580=)
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser) rs1480723806
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4780-11_4780-8del rs748277415
NM_001429.4(EP300):c.4780-12T>A
NM_001429.4(EP300):c.4780-14T>G
NM_001429.4(EP300):c.4780-21_4780-18del rs2059199595
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4785del (p.Phe1596fs) rs2145512052
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.47C>G (p.Pro16Arg)
NM_001429.4(EP300):c.4817C>T (p.Ala1606Val)
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4826_4833dup (p.Ile1612fs) rs2145512343
NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser)
NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu)
NM_001429.4(EP300):c.4845T>G (p.Pro1615=)
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
NM_001429.4(EP300):c.4873del (p.Asp1625fs) rs2145512676
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
NM_001429.4(EP300):c.4887G>A (p.Ala1629=)
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
NM_001429.4(EP300):c.4923C>G (p.Phe1641Leu)
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
NM_001429.4(EP300):c.4947dup (p.Ser1650fs)
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.4971G>A (p.Glu1657=)
NM_001429.4(EP300):c.498C>T (p.Asn166=) rs2058828603
NM_001429.4(EP300):c.4994G>A (p.Arg1665His) rs1601639332
NM_001429.4(EP300):c.5007C>G (p.Thr1669=)
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
NM_001429.4(EP300):c.5062-15C>T
NM_001429.4(EP300):c.5062-18C>T
NM_001429.4(EP300):c.5062-3T>C
NM_001429.4(EP300):c.5062-5C>T rs1601639609
NM_001429.4(EP300):c.5076T>C (p.Cys1692=)
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=)
NM_001429.4(EP300):c.5100C>T (p.Asn1700=)
NM_001429.4(EP300):c.5122C>T (p.Leu1708=)
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile)
NM_001429.4(EP300):c.5154C>T (p.Asn1718=)
NM_001429.4(EP300):c.5169C>T (p.Ala1723=)
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.524C>T (p.Pro175Leu)
NM_001429.4(EP300):c.5268A>G (p.Pro1756=)
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)
NM_001429.4(EP300):c.529A>G (p.Met177Val)
NM_001429.4(EP300):c.5313C>T (p.Cys1771=)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5331C>G (p.Gly1777=)
NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg)
NM_001429.4(EP300):c.5388C>T (p.Cys1796=)
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
NM_001429.4(EP300):c.5411C>T (p.Pro1804Leu)
NM_001429.4(EP300):c.5412G>A (p.Pro1804=)
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5441G>T (p.Arg1814Leu)
NM_001429.4(EP300):c.5442G>A (p.Arg1814=)
NM_001429.4(EP300):c.546T>C (p.Asn182=)
NM_001429.4(EP300):c.5472G>C (p.Gln1824His)
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5532A>C (p.Gln1844His)
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe)
NM_001429.4(EP300):c.5547C>T (p.Ser1849=)
NM_001429.4(EP300):c.5550C>G (p.Pro1850=)
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.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5560A>C (p.Thr1854Pro)
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met)
NM_001429.4(EP300):c.5587C>G (p.Pro1863Ala)
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser)
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1])
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
NM_001429.4(EP300):c.5664C>G (p.Pro1888=)
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly)
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.5678C>T (p.Ala1893Val)
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val) rs1301825643
NM_001429.4(EP300):c.5838A>G (p.Gln1946=)
NM_001429.4(EP300):c.584C>A (p.Ser195Ter) rs2058829252
NM_001429.4(EP300):c.5854A>G (p.Ile1952Val)
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg)
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
NM_001429.4(EP300):c.5874G>A (p.Pro1958=)
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
NM_001429.4(EP300):c.5880dup (p.Pro1961fs)
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
NM_001429.4(EP300):c.5934G>A (p.Gly1978=)
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
NM_001429.4(EP300):c.5957C>A (p.Pro1986Gln)
NM_001429.4(EP300):c.5958G>A (p.Pro1986=)
NM_001429.4(EP300):c.5979A>G (p.Pro1993=)
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6015A>G (p.Gln2005=)
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6105G>A (p.Gln2035=)
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln)
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp)
NM_001429.4(EP300):c.613A>G (p.Met205Val)
NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del)
NM_001429.4(EP300):c.6144A>G (p.Gln2048=)
NM_001429.4(EP300):c.6148G>C (p.Ala2050Pro)
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
NM_001429.4(EP300):c.6165G>A (p.Leu2055=)
NM_001429.4(EP300):c.6166C>T (p.Arg2056Trp)
NM_001429.4(EP300):c.6183C>T (p.Pro2061=) rs2059211875
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
NM_001429.4(EP300):c.6193C>T (p.Leu2065=)
NM_001429.4(EP300):c.6195G>A (p.Leu2065=)
NM_001429.4(EP300):c.6204A>C (p.Gln2068His)
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
NM_001429.4(EP300):c.6240G>C (p.Leu2080=)
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly)
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp) rs201569846
NM_001429.4(EP300):c.6279C>T (p.Ala2093=)
NM_001429.4(EP300):c.6287A>G (p.Asn2096Ser) rs1762014323
NM_001429.4(EP300):c.6298_6317del (p.Ile2100fs)
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.6351C>T (p.Thr2117=)
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp)
NM_001429.4(EP300):c.63G>C (p.Pro21=)
NM_001429.4(EP300):c.6402T>G (p.Asn2134Lys)
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
NM_001429.4(EP300):c.6444G>A (p.Gln2148=)
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.6468A>C (p.Pro2156=)
NM_001429.4(EP300):c.6472A>G (p.Met2158Val)
NM_001429.4(EP300):c.6489C>G (p.Pro2163=)
NM_001429.4(EP300):c.6494C>T (p.Ala2165Val)
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6509T>C (p.Met2170Thr)
NM_001429.4(EP300):c.650dup (p.Asn217fs) rs2145697647
NM_001429.4(EP300):c.6520A>G (p.Thr2174Ala) rs5758252
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
NM_001429.4(EP300):c.6523A>G (p.Met2175Val)
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg)
NM_001429.4(EP300):c.6539G>A (p.Arg2180Gln)
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
NM_001429.4(EP300):c.6546C>A (p.Ile2182=)
NM_001429.4(EP300):c.6561A>G (p.Gln2187=)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6594G>A (p.Gly2198=)
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
NM_001429.4(EP300):c.6642C>G (p.Pro2214=)
NM_001429.4(EP300):c.6657C>T (p.Tyr2219=) rs2145521664
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr)
NM_001429.4(EP300):c.6681G>A (p.Met2227Ile)
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg)
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr)
NM_001429.4(EP300):c.6739dup (p.Gln2247fs)
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe)
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
NM_001429.4(EP300):c.6782A>G (p.Gln2261Arg)
NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6801A>G (p.Gln2267=)
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu)
NM_001429.4(EP300):c.680C>T (p.Ser227Phe)
NM_001429.4(EP300):c.6840C>T (p.Pro2280=)
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
NM_001429.4(EP300):c.6888C>T (p.Gly2296=)
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn)
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6914A>G (p.Asn2305Ser)
NM_001429.4(EP300):c.6920T>G (p.Val2307Gly)
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
NM_001429.4(EP300):c.6958T>C (p.Ser2320Pro)
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.6970C>A (p.His2324Asn)
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer)
NM_001429.4(EP300):c.6975C>T (p.Ser2325=)
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
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.7070A>G (p.Asn2357Ser) rs147304540
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup) rs2059220245
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
NM_001429.4(EP300):c.7094C>T (p.Ala2365Val)
NM_001429.4(EP300):c.7098C>T (p.Ser2366=)
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
NM_001429.4(EP300):c.7109A>G (p.Asn2370Ser)
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe)
NM_001429.4(EP300):c.7131dup (p.Ser2378Ter)
NM_001429.4(EP300):c.7134C>T (p.Ser2378=)
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
NM_001429.4(EP300):c.7135A>G (p.Asn2379Asp)
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.7163C>T (p.Ala2388Val)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7173G>A (p.Thr2391=)
NM_001429.4(EP300):c.7182A>G (p.Gly2394=)
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.7213A>G (p.Asn2405Asp)
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
NM_001429.4(EP300):c.721C>T (p.Pro241Ser)
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7230A>G (p.Thr2410=)
NM_001429.4(EP300):c.7241_7242dup (p.Ter2415ThrextTer?) rs1329239009
NM_001429.4(EP300):c.7242C>T (p.His2414=) rs1329691393
NM_001429.4(EP300):c.729+19T>C
NM_001429.4(EP300):c.729+8C>T
NM_001429.4(EP300):c.730-10T>A
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.730-20C>T
NM_001429.4(EP300):c.730-5C>T
NM_001429.4(EP300):c.730-7_730-2del rs762256767
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.750C>T (p.Pro250=)
NM_001429.4(EP300):c.757T>C (p.Tyr253His)
NM_001429.4(EP300):c.759T>C (p.Tyr253=)
NM_001429.4(EP300):c.75G>A (p.Ala25=)
NM_001429.4(EP300):c.770A>G (p.Tyr257Cys)
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
NM_001429.4(EP300):c.832del (p.Thr278fs) rs2058879988
NM_001429.4(EP300):c.839T>C (p.Leu280Pro)
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
NM_001429.4(EP300):c.864T>C (p.Ala288=)
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.907-14G>A
NM_001429.4(EP300):c.94+10G>A
NM_001429.4(EP300):c.94+12C>T
NM_001429.4(EP300):c.94+17C>T
NM_001429.4(EP300):c.94+18_94+19insTC
NM_001429.4(EP300):c.94+19G>A
NM_001429.4(EP300):c.941G>A (p.Gly314Asp)
NM_001429.4(EP300):c.95-3T>C
NM_001429.4(EP300):c.95-9T>C
NM_001429.4(EP300):c.952C>T (p.Pro318Ser)
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
NM_001429.4(EP300):c.960C>T (p.Ala320=)
NM_001429.4(EP300):c.963A>G (p.Gln321=)
NM_001429.4(EP300):c.984T>C (p.His328=)
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser) rs1752993803
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
NM_001999.4(FBN2):c.1014G>A (p.Val338=)
NM_001999.4(FBN2):c.1018A>G (p.Ser340Gly)
NM_001999.4(FBN2):c.1019G>A (p.Ser340Asn)
NM_001999.4(FBN2):c.102G>A (p.Pro34=)
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu) rs2112810970
NM_001999.4(FBN2):c.1053C>T (p.Thr351=) rs1554067080
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
NM_001999.4(FBN2):c.1078+10G>A
NM_001999.4(FBN2):c.1078+5G>A rs1752991507
NM_001999.4(FBN2):c.1078+9C>G rs371692018
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
NM_001999.4(FBN2):c.1079-7T>C
NM_001999.4(FBN2):c.1079-9C>T
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
NM_001999.4(FBN2):c.1107C>T (p.Gly369=) rs1060503505
NM_001999.4(FBN2):c.1119C>A (p.Gly373=) rs1554066145
NM_001999.4(FBN2):c.111G>C (p.Pro37=)
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
NM_001999.4(FBN2):c.115C>A (p.Arg39=) rs763202121
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
NM_001999.4(FBN2):c.117del (p.Gln41fs)
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser) rs2112810915
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
NM_001999.4(FBN2):c.1209dup (p.Ala404fs) rs1752614082
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
NM_001999.4(FBN2):c.1231+12G>A
NM_001999.4(FBN2):c.1231+15G>A
NM_001999.4(FBN2):c.1231+19G>A
NM_001999.4(FBN2):c.1232-6T>C rs1581260490
NM_001999.4(FBN2):c.1232-8T>C
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met) rs1752569770
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
NM_001999.4(FBN2):c.132G>A (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser) rs1554066013
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu) rs774411616
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del) rs730880109
NM_001999.4(FBN2):c.135A>G (p.Gln45=) rs1182394348
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
NM_001999.4(FBN2):c.1386T>C (p.Pro462=) rs778468050
NM_001999.4(FBN2):c.1398C>T (p.Gly466=) rs1554066010
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu) rs138046782
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
NM_001999.4(FBN2):c.1443G>A (p.Gln481=) rs923812426
NM_001999.4(FBN2):c.1443G>C (p.Gln481His) rs923812426
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
NM_001999.4(FBN2):c.1465+17C>T
NM_001999.4(FBN2):c.1466-12A>G
NM_001999.4(FBN2):c.1466-17G>T rs2126977471
NM_001999.4(FBN2):c.1466-19G>T
NM_001999.4(FBN2):c.1466-5del
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
NM_001999.4(FBN2):c.147C>T (p.Ser49=) rs1194404343
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met) rs1158937805
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
NM_001999.4(FBN2):c.1526G>A (p.Arg509His) rs199587570
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg) rs1060503509
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val) rs1752527949
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr) rs762032979
NM_001999.4(FBN2):c.1603+15C>G
NM_001999.4(FBN2):c.1603+19A>G
NM_001999.4(FBN2):c.1603+6T>C rs1752527763
NM_001999.4(FBN2):c.1603+9G>C rs774984154
NM_001999.4(FBN2):c.1604-1G>A
NM_001999.4(FBN2):c.1604-7C>T rs2126960298
NM_001999.4(FBN2):c.1604-8G>C
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys) rs1561427124
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe) rs1456682417
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp) rs781622385
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys) rs2126960231
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr) rs1581251809
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg) rs2126960181
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg) rs1283833434
NM_001999.4(FBN2):c.1662T>C (p.Gly554=) rs1400948280
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr) rs2126960142
NM_001999.4(FBN2):c.1686T>G (p.Ala562=) rs1581251758
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp) rs2112810796
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg) rs376737293
NM_001999.4(FBN2):c.1723+12T>G
NM_001999.4(FBN2):c.1723+3A>G rs2126960065
NM_001999.4(FBN2):c.1724-14C>A
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn) rs1230736233
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg) rs759733025
NM_001999.4(FBN2):c.1773C>T (p.Cys591=) rs763629454
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val) rs1581250994
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1849+20C>T
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr) rs1752093236
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg) rs1060503499
NM_001999.4(FBN2):c.189T>C (p.Tyr63=) rs1435288732
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln) rs1561504900
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
NM_001999.4(FBN2):c.1954A>C (p.Asn652His) rs749765413
NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp)
NM_001999.4(FBN2):c.1959G>T (p.Gly653=)
NM_001999.4(FBN2):c.1960C>T (p.Arg654Cys)
NM_001999.4(FBN2):c.1972+10G>T
NM_001999.4(FBN2):c.1972+4TG[2]
NM_001999.4(FBN2):c.1973-8C>A
NM_001999.4(FBN2):c.1973-9A>T
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala) rs746408145
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile) rs2126954772
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly) rs2126954710
NM_001999.4(FBN2):c.2034G>T (p.Gly678=) rs1357250229
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu) rs548605398
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr) rs1752034896
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr) rs141291125
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu) rs1581249148
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser) rs1752034485
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly) rs781745158
NM_001999.4(FBN2):c.206C>T (p.Ala69Val) rs1756883252
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
NM_001999.4(FBN2):c.208G>C (p.Val70Leu) rs1756883199
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
NM_001999.4(FBN2):c.2095+1G>A
NM_001999.4(FBN2):c.2095+2_2095+7del rs1752033073
NM_001999.4(FBN2):c.2095+5G>A rs2126954577
NM_001999.4(FBN2):c.2095+8A>T
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
NM_001999.4(FBN2):c.2103C>T (p.His701=) rs148920354
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys) rs748861935
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg) rs1006288282
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg) rs149733159
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn) rs2126947449
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
NM_001999.4(FBN2):c.21G>A (p.Leu7=) rs1002853093
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser) rs1554064242
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
NM_001999.4(FBN2):c.2248+11G>C
NM_001999.4(FBN2):c.2248+4G>A rs752467521
NM_001999.4(FBN2):c.2249-15C>T
NM_001999.4(FBN2):c.2249-18T>C rs996601598
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg) rs145259927
NM_001999.4(FBN2):c.2302+16C>A
NM_001999.4(FBN2):c.2302+9A>G
NM_001999.4(FBN2):c.2303-18T>G
NM_001999.4(FBN2):c.2303-2A>G rs1751723379
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg) rs1751722668
NM_001999.4(FBN2):c.2340C>T (p.Ala780=) rs1060504935
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile) rs756348656
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg) rs886038969
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr) rs1057524398
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2428+12G>T
NM_001999.4(FBN2):c.2428+18T>C rs775383249
NM_001999.4(FBN2):c.2428+1G>T rs1751719964
NM_001999.4(FBN2):c.2429-17T>G
NM_001999.4(FBN2):c.2429-1G>A rs1270553787
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
NM_001999.4(FBN2):c.2439A>G (p.Glu813=) rs1581241374
NM_001999.4(FBN2):c.2457G>A (p.Leu819=) rs370465689
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
NM_001999.4(FBN2):c.2487G>A (p.Thr829=) rs779455710
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu) rs2126937089
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr) rs751263399
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.254+10C>G
NM_001999.4(FBN2):c.254+14C>G
NM_001999.4(FBN2):c.254+20C>G
NM_001999.4(FBN2):c.254+5G>A
NM_001999.4(FBN2):c.2554+5G>T rs2126936993
NM_001999.4(FBN2):c.2555-20C>G
NM_001999.4(FBN2):c.2556T>C (p.Asp852=) rs2126931519
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
NM_001999.4(FBN2):c.2592G>A (p.Gly864=)
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp) rs756569459
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg) rs1751526889
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
NM_001999.4(FBN2):c.2634G>T (p.Ser878=) rs143905167
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg) rs1168151418
NM_001999.4(FBN2):c.2646A>G (p.Lys882=) rs1035674949
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
NM_001999.4(FBN2):c.264G>T (p.Val88=) rs1167442198
NM_001999.4(FBN2):c.2674+6A>T rs1381952326
NM_001999.4(FBN2):c.2674+9del rs2126931306
NM_001999.4(FBN2):c.2675-20C>T
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
NM_001999.4(FBN2):c.2736T>C (p.Asn912=) rs760088310
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser) rs370312107
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter) rs111405756
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser) rs863223559
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser) rs779579749
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
NM_001999.4(FBN2):c.2812+14T>C
NM_001999.4(FBN2):c.2812+9C>A rs751293821
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val) rs1751304507
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg) rs1751304438
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.282C>T (p.His94=)
NM_001999.4(FBN2):c.2839A>C (p.Arg947=) rs752949752
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg) rs766590294
NM_001999.4(FBN2):c.2856G>A (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2863+13T>G
NM_001999.4(FBN2):c.2863+19G>A
NM_001999.4(FBN2):c.2863+5G>A
NM_001999.4(FBN2):c.2863+9A>G
NM_001999.4(FBN2):c.2864-15T>C
NM_001999.4(FBN2):c.2864-19T>G rs2126919979
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu) rs1025184275
NM_001999.4(FBN2):c.2886C>T (p.Phe962=) rs972172170
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys) rs2126919911
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp) rs1554124089
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
NM_001999.4(FBN2):c.2909G>A (p.Arg970His) rs368402648
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg) rs1751283602
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr) rs1057519321
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro) rs1751282501
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala) rs1756849074
NM_001999.4(FBN2):c.2961G>A (p.Thr987=) rs760390469
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys) rs752905724
NM_001999.4(FBN2):c.2989+13C>A
NM_001999.4(FBN2):c.2990-7G>C rs1245936560
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.2997C>T (p.Arg999=) rs1751155993
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp) rs1064797312
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr) rs375187779
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu) rs984782865
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg) rs1756848859
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile) rs952236163
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu) rs754884110
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=) rs528529593
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln) rs773473369
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln) rs771853346
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=) rs1356177204
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His) rs753760095
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu) rs753760095
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs) rs1554123702
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=) rs2126913781
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg) rs2112809157
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln) rs563921589
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His) rs2126913738
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
NM_001999.4(FBN2):c.3217+12C>A rs375688726
NM_001999.4(FBN2):c.3217+12C>T
NM_001999.4(FBN2):c.3217+13G>C rs572013507
NM_001999.4(FBN2):c.3217+19C>T
NM_001999.4(FBN2):c.3217+1G>A rs2126913719
NM_001999.4(FBN2):c.3217+6T>C
NM_001999.4(FBN2):c.3217+8C>A rs1554123700
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3218-4T>C
NM_001999.4(FBN2):c.3218-5T>G rs1554123647
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val) rs1218249269
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=) rs1345516642
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp) rs1751116346
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg) rs1581230766
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser) rs2126912100
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val) rs148127874
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly) rs1751112929
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
NM_001999.4(FBN2):c.3343+12C>G
NM_001999.4(FBN2):c.3343+12C>T rs2126911962
NM_001999.4(FBN2):c.3344-12C>T
NM_001999.4(FBN2):c.3344-13C>A
NM_001999.4(FBN2):c.3344-6A>T
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys) rs1348701377
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser) rs764719151
NM_001999.4(FBN2):c.336C>T (p.Val112=)
NM_001999.4(FBN2):c.337+12G>T rs2112809114
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
NM_001999.4(FBN2):c.338-18C>T
NM_001999.4(FBN2):c.338-4A>G rs1756678272
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly) rs1750918931
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser) rs1750918793
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp) rs1750918059
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val) rs1042256829
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3472+2T>C rs2126903614
NM_001999.4(FBN2):c.3472+3A>G rs1750917005
NM_001999.4(FBN2):c.3472+9C>T rs372520452
NM_001999.4(FBN2):c.3473-15G>A
NM_001999.4(FBN2):c.3473-16C>T
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg) rs1750894751
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=) rs2126902161
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser) rs1756677980
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp) rs931046977
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=) rs2126902008
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
NM_001999.4(FBN2):c.3598+6T>G
NM_001999.4(FBN2):c.3599-13G>T
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr) rs1389689622
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro) rs1581224796
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala) rs1047464870
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=) rs774807410
NM_001999.4(FBN2):c.36C>T (p.Tyr12=) rs1581380471
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser) rs778784375
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3725-18G>T
NM_001999.4(FBN2):c.3725-3C>T
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly) rs1554122857
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly) rs1750812827
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly) rs1750812513
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile) rs1554122848
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser) rs1750811749
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe) rs1750811749
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly) rs1561776564
NM_001999.4(FBN2):c.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=) rs983684093
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser) rs747182286
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys) rs755489065
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=) rs754193286
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile) rs1554122803
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly) rs1581223990
NM_001999.4(FBN2):c.3973+17A>G
NM_001999.4(FBN2):c.3973+7A>G
NM_001999.4(FBN2):c.3974-19T>A rs112950479
NM_001999.4(FBN2):c.3974-3T>A
NM_001999.4(FBN2):c.3974-7T>G
NM_001999.4(FBN2):c.3974-9A>G
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp) rs1394998823
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr) rs1750792792
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=) rs759408247
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp) rs1479056828
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg) rs1750789808
NM_001999.4(FBN2):c.4099+12G>A
NM_001999.4(FBN2):c.4099+7T>G rs1750789192
NM_001999.4(FBN2):c.4100-11T>C
NM_001999.4(FBN2):c.4100-19A>G
NM_001999.4(FBN2):c.4100-19A>T rs200803675
NM_001999.4(FBN2):c.4100-6T>C
NM_001999.4(FBN2):c.4100-8T>C
NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe)
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr) rs971727405
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg) rs1255550274
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr) rs886038935
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val) rs1750732608
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4222+5G>A rs1554122550
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn) rs1478574969
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=) rs138289440
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys) rs866719857
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn) rs1750669779
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile) rs1750669779
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile) rs367961012
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser) rs1750667332
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=) rs2126889007
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg) rs1060503510
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile) rs1750666696
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr) rs2126888942
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
NM_001999.4(FBN2):c.4345+19G>A rs886038503
NM_001999.4(FBN2):c.4346-16T>A
NM_001999.4(FBN2):c.4346-2A>G rs587776518
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
NM_001999.4(FBN2):c.436+13C>T
NM_001999.4(FBN2):c.436+4T>G
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
NM_001999.4(FBN2):c.437-12T>C
NM_001999.4(FBN2):c.437-1G>A rs1180913191
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly) rs1750620648
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu) rs1750620267
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
NM_001999.4(FBN2):c.4410T>G (p.Gly1470=)
NM_001999.4(FBN2):c.4413A>G (p.Ala1471=)
NM_001999.4(FBN2):c.4423G>A (p.Glu1475Lys)
NM_001999.4(FBN2):c.4442C>T (p.Thr1481Ile)
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
NM_001999.4(FBN2):c.4471+6T>G
NM_001999.4(FBN2):c.4471+9C>A
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-12dup
NM_001999.4(FBN2):c.4472-18T>A rs200285828
NM_001999.4(FBN2):c.4472-18T>G
NM_001999.4(FBN2):c.4472-19T>A
NM_001999.4(FBN2):c.4472-2A>G rs1554121102
NM_001999.4(FBN2):c.4472-3C>T
NM_001999.4(FBN2):c.4472-7T>C
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile) rs779482726
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala) rs1581212696
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=) rs1348263135
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=) rs1434367982
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg) rs2126854542
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=) rs1554121089
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=) rs1581212624
NM_001999.4(FBN2):c.4592_4594+3del rs2126854512
NM_001999.4(FBN2):c.4594+3A>G
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.4595-4C>A
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile) rs1554121038
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=) rs1581212135
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4717+8A>G rs1750262267
NM_001999.4(FBN2):c.4718-6C>T
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala) rs1581208599
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His) rs1060503508
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=) rs1750089730
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg) rs1295579995
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=) rs753387547
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=) rs377657220
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg) rs2126847622
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser) rs139830237
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile) rs1403929477
NM_001999.4(FBN2):c.4879+12G>A
NM_001999.4(FBN2):c.4879+16A>G rs2126847534
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro) rs1561765113
NM_001999.4(FBN2):c.4880-12A>G rs376111927
NM_001999.4(FBN2):c.4880-14C>G
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.4948+15T>C
NM_001999.4(FBN2):c.4949-12C>T
NM_001999.4(FBN2):c.4949-17T>C rs2126846281
NM_001999.4(FBN2):c.4949-19A>C
NM_001999.4(FBN2):c.4949-6T>C
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=) rs1554120357
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys) rs769474473
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly) rs863223577
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg) rs141401126
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr) rs1554120340
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
NM_001999.4(FBN2):c.5074+12T>A
NM_001999.4(FBN2):c.5075-10C>G
NM_001999.4(FBN2):c.5075-19A>T
NM_001999.4(FBN2):c.5075-20_5075-17del
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=) rs1284156837
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser) rs1749990667
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe) rs1554120186
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5200+5_5200+10del
NM_001999.4(FBN2):c.5201-17dup
NM_001999.4(FBN2):c.5201-19T>G
NM_001999.4(FBN2):c.5201-20C>A
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr) rs748580764
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile) rs2126842957
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=) rs755781072
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val) rs2126842904
NM_001999.4(FBN2):c.531A>G (p.Gln177=) rs863223544
NM_001999.4(FBN2):c.532+16T>G
NM_001999.4(FBN2):c.532+1G>A
NM_001999.4(FBN2):c.533-11T>A
NM_001999.4(FBN2):c.533-14A>G
NM_001999.4(FBN2):c.533-4G>A
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=) rs1307268596
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser) rs1554120093
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=) rs2126842864
NM_001999.4(FBN2):c.5353+10C>A rs113589974
NM_001999.4(FBN2):c.5353+15C>A
NM_001999.4(FBN2):c.5353+16G>C
NM_001999.4(FBN2):c.5354-4A>G rs2126840686
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
NM_001999.4(FBN2):c.5422+11C>T
NM_001999.4(FBN2):c.5422+14G>A
NM_001999.4(FBN2):c.5422+20G>A
NM_001999.4(FBN2):c.5423-17A>G rs2126839337
NM_001999.4(FBN2):c.5423-18A>C
NM_001999.4(FBN2):c.5423-18A>G
NM_001999.4(FBN2):c.5423-1G>C
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly) rs1749861614
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala) rs1561760487
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=) rs1385121154
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg) rs1749856162
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
NM_001999.4(FBN2):c.5549-8T>C
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly) rs1749848470
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser) rs2126838900
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln) rs1447600676
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser) rs200681872
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=) rs1749846586
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
NM_001999.4(FBN2):c.55G>A (p.Val19Met) rs1357709072
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser) rs1749845932
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg) rs1060503504
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg) rs1248957106
NM_001999.4(FBN2):c.5674+12G>A
NM_001999.4(FBN2):c.5674+4A>G rs778011355
NM_001999.4(FBN2):c.5674+8A>G rs2126838714
NM_001999.4(FBN2):c.5675-14T>A
NM_001999.4(FBN2):c.5675-17A>G
NM_001999.4(FBN2):c.5675-17A>T
NM_001999.4(FBN2):c.5675-18del
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=) rs1554119714
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
NM_001999.4(FBN2):c.5800+16G>A
NM_001999.4(FBN2):c.5800+20C>T rs1554119695
NM_001999.4(FBN2):c.5800+6A>T rs2126838039
NM_001999.4(FBN2):c.5800+9G>A
NM_001999.4(FBN2):c.5801-18G>T
NM_001999.4(FBN2):c.5801-5T>G rs571282132
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del) rs1554119538
NM_001999.4(FBN2):c.5805T>C (p.Val1935=) rs777941578
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp) rs755672868
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys) rs1561495424
NM_001999.4(FBN2):c.584G>A (p.Arg195His) rs746890032
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=) rs747408641
NM_001999.4(FBN2):c.5889T>C (p.Phe1963=) rs1554119526
NM_001999.4(FBN2):c.5895C>G (p.Leu1965=) rs1581201379
NM_001999.4(FBN2):c.5898T>C (p.Thr1966=) rs2126835924
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu) rs1749761553
NM_001999.4(FBN2):c.5917+10T>G
NM_001999.4(FBN2):c.5917+20C>T
NM_001999.4(FBN2):c.5917+5G>A rs1561758622
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5918-13T>C
NM_001999.4(FBN2):c.5918-20A>G
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr) rs1749718755
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp) rs1561757902
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=) rs1749717202
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly) rs1749717138
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser) rs754066538
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu) rs976599275
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His) rs1749713036
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu) rs776937649
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val) rs1202188687
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met) rs770585421
NM_001999.4(FBN2):c.6046+10T>C rs1179452976
NM_001999.4(FBN2):c.6046+16A>G
NM_001999.4(FBN2):c.6046+2T>C rs1581200259
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His) rs1749711886
NM_001999.4(FBN2):c.6047-13T>C
NM_001999.4(FBN2):c.6047-9del
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly) rs1749697561
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
NM_001999.4(FBN2):c.60G>C (p.Val20=)
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr) rs2126833724
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
NM_001999.4(FBN2):c.6167-12C>T
NM_001999.4(FBN2):c.6167-13_6167-11del rs1749326713
NM_001999.4(FBN2):c.6167-15C>A rs1749327059
NM_001999.4(FBN2):c.6167-1G>C
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6167-4G>T rs370981323
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala) rs753305406
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg) rs2126822046
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe) rs878854478
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=) rs2126822027
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
NM_001999.4(FBN2):c.628+20T>G
NM_001999.4(FBN2):c.628+3A>G
NM_001999.4(FBN2):c.628+4A>C
NM_001999.4(FBN2):c.628+8G>A
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
NM_001999.4(FBN2):c.629-11C>T rs2127084540
NM_001999.4(FBN2):c.629-15T>G
NM_001999.4(FBN2):c.629-26TCTT[4] rs778383061
NM_001999.4(FBN2):c.629-3C>G rs376491648
NM_001999.4(FBN2):c.6292+11G>C
NM_001999.4(FBN2):c.6292+17C>G
NM_001999.4(FBN2):c.6292+17C>T rs776362563
NM_001999.4(FBN2):c.6292+6A>G
NM_001999.4(FBN2):c.6293-13C>A
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His) rs746758405
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
NM_001999.4(FBN2):c.63C>G (p.Leu21=) rs2112811119
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser) rs1266965965
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=) rs2126821243
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=) rs2126821236
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=) rs2126821236
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly) rs760548036
NM_001999.4(FBN2):c.6445+14C>T
NM_001999.4(FBN2):c.6445+3A>G
NM_001999.4(FBN2):c.6445+7G>T
NM_001999.4(FBN2):c.6446-12T>G
NM_001999.4(FBN2):c.6446-15T>C
NM_001999.4(FBN2):c.6446-4G>C
NM_001999.4(FBN2):c.6446-8C>A rs2126820462
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
NM_001999.4(FBN2):c.6511+4C>A rs368610241
NM_001999.4(FBN2):c.6512-11C>A rs759648926
NM_001999.4(FBN2):c.6512-11C>T rs759648926
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6512-2A>T
NM_001999.4(FBN2):c.6512-8T>A rs2126819626
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser) rs1561750168
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn) rs1244642553
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu) rs200489152
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
NM_001999.4(FBN2):c.6637+8T>C rs780697390
NM_001999.4(FBN2):c.6638-13T>A
NM_001999.4(FBN2):c.6638-15_6638-13del rs756212920
NM_001999.4(FBN2):c.6638-19T>C rs2126818779
NM_001999.4(FBN2):c.6638-9_6638-7del rs754187604
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys) rs2126818692
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=) rs2126818668
NM_001999.4(FBN2):c.6693T>C (p.Val2231=) rs1554118051
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
NM_001999.4(FBN2):c.6757+2C>T
NM_001999.4(FBN2):c.6757+8A>T
NM_001999.4(FBN2):c.6757+9T>C
NM_001999.4(FBN2):c.6758-12del rs757126046
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=) rs1561749096
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro) rs893243344
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val) rs1749185390
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala) rs1060503500
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
NM_001999.4(FBN2):c.685C>T (p.Leu229=) rs200698449
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile) rs1581189176
NM_001999.4(FBN2):c.6880+16C>T
NM_001999.4(FBN2):c.6880+19G>T
NM_001999.4(FBN2):c.6880+6G>A
NM_001999.4(FBN2):c.6880+6G>C rs1271195305
NM_001999.4(FBN2):c.6881-13T>C
NM_001999.4(FBN2):c.6881-15del
NM_001999.4(FBN2):c.6881-19T>A
NM_001999.4(FBN2):c.6881-1G>A
NM_001999.4(FBN2):c.6881-1G>T
NM_001999.4(FBN2):c.6881-4C>G
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu) rs199560824
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6972T>A (p.Pro2324=)
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=) rs1581188714
NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=) rs1274780641
NM_001999.4(FBN2):c.6975T>C (p.Pro2325=)
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala) rs1554117875
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter) rs1287289593
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=) rs368234173
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
NM_001999.4(FBN2):c.7011A>G (p.Val2337=) rs2126816680
NM_001999.4(FBN2):c.7012+13G>A
NM_001999.4(FBN2):c.7012+18G>T
NM_001999.4(FBN2):c.7012+7G>C rs199735209
NM_001999.4(FBN2):c.7012+8G>A rs1422660066
NM_001999.4(FBN2):c.7013-5del
NM_001999.4(FBN2):c.7013-7T>C
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser) rs1581184433
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=) rs1765497836
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly) rs1765463264
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=) rs759522946
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val) rs754380350
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile) rs768193630
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val) rs2126809569
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val) rs886038938
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro) rs2126809547
NM_001999.4(FBN2):c.7260C>T (p.His2420=) rs775251012
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=) rs773011673
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
NM_001999.4(FBN2):c.7345+10T>C
NM_001999.4(FBN2):c.7345+6G>A
NM_001999.4(FBN2):c.7345+9T>A
NM_001999.4(FBN2):c.7346-17G>T
NM_001999.4(FBN2):c.7346-3C>T rs1439389862
NM_001999.4(FBN2):c.7346-8G>A rs2126808910
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr) rs141088981
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile) rs1019541548
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln) rs28763925
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=) rs2126808790
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu) rs1765435966
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala) rs2126808746
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=) rs1765435027
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr) rs779483120
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp) rs2112811070
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=) rs1060503502
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=) rs1581181343
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=) rs2126807268
NM_001999.4(FBN2):c.756G>A (p.Glu252=) rs565550310
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val) rs768941456
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln) rs894902794
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
NM_001999.4(FBN2):c.7594+14C>T
NM_001999.4(FBN2):c.7595-12C>G
NM_001999.4(FBN2):c.7595-14C>G
NM_001999.4(FBN2):c.7595-15T>C
NM_001999.4(FBN2):c.7595-17C>A rs1353897134
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter) rs1453328210
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe) rs755760127
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7650C>T (p.Thr2550=)
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=) rs982288060
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr) rs1765342729
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=) rs778549338
NM_001999.4(FBN2):c.7712-8T>G
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val) rs572453085
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg) rs2126805299
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala) rs1447205905
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=) rs1765323936
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=) rs1554116608
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser) rs762538141
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
NM_001999.4(FBN2):c.7840+10T>C
NM_001999.4(FBN2):c.7840+1G>A
NM_001999.4(FBN2):c.7841-14G>A rs751308498
NM_001999.4(FBN2):c.7841-3C>T rs1554116417
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu) rs1554116412
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=) rs772818240
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter) rs1554116411
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln) rs769593495
NM_001999.4(FBN2):c.78G>C (p.Thr26=) rs1265112696
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala) rs1060503512
NM_001999.4(FBN2):c.7959C>A (p.Val2653=) rs773175830
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro) rs1765039937
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser) rs1229950368
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser) rs1765038866
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser) rs763870762
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=) rs150734807
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu) rs749888746
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr) rs771008563
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe) rs2126795619
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr) rs1387382061
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8082C>T (p.His2694=) rs142755118
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp) rs1765035115
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr) rs2126795584
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp) rs776788539
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu) rs148971572
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=) rs138659121
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser) rs1182788018
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=) rs141841206
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser) rs1754660014
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys) rs758149534
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met) rs754101758
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val) rs1561736199
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser) rs1765029329
NM_001999.4(FBN2):c.8192+20C>T
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8192+7C>A rs376135657
NM_001999.4(FBN2):c.8193-9T>G
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=) rs775766250
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
NM_001999.4(FBN2):c.826+18C>G
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
NM_001999.4(FBN2):c.827-10C>T
NM_001999.4(FBN2):c.827-13T>G
NM_001999.4(FBN2):c.827-4G>A
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala) rs1158966833
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile) rs1764982741
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr) rs1308073420
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=) rs1554115402
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
NM_001999.4(FBN2):c.834T>C (p.Asp278=) rs2127056960
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
NM_001999.4(FBN2):c.8364+17C>T
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_001999.4(FBN2):c.8364+8T>C rs1554115371
NM_001999.4(FBN2):c.8365-17T>G
NM_001999.4(FBN2):c.8365-4C>G rs878854480
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
NM_001999.4(FBN2):c.837A>G (p.Glu279=) rs2127056950
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe) rs1764918027
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met) rs2126791949
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His) rs1161871936
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter) rs1060503503
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val) rs1249852107
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=) rs1764914729
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=) rs1764914519
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly) rs1764914190
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile) rs2126791814
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu) rs200345491
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg) rs2127056896
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg) rs1291203524
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=) rs778576181
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=) rs886038784
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys) rs762956345
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val) rs1554115164
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg) rs1367710207
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn) rs2126791602
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu) rs1754069364
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn) rs748874308
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=) rs1194973560
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=) rs1374026282
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile) rs887275019
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser) rs1554069994
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
NM_001999.4(FBN2):c.93G>C (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.952+14C>G
NM_001999.4(FBN2):c.952+3G>T rs1554069982
NM_001999.4(FBN2):c.952+7CT[2] rs750915525
NM_001999.4(FBN2):c.953-10C>T rs2127000191
NM_001999.4(FBN2):c.953-14C>T
NM_001999.4(FBN2):c.953-18_953-16del
NM_001999.4(FBN2):c.953-9del rs757659311
NM_001999.4(FBN2):c.960T>C (p.Asp320=) rs1581270421
NM_001999.4(FBN2):c.969C>T (p.Ser323=) rs1554067083
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser) rs2127000101
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
NM_002334.4(LRP4):c.1029A>G (p.Glu343=) rs761739869
NM_002334.4(LRP4):c.1048+13A>G
NM_002334.4(LRP4):c.1049-10G>C rs2134853583
NM_002334.4(LRP4):c.1049-20C>T
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val) rs1941521066
NM_002334.4(LRP4):c.1110G>T (p.Gln370His)
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr) rs1164240481
NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)
NM_002334.4(LRP4):c.1126G>A (p.Val376Met) rs1243051904
NM_002334.4(LRP4):c.1146A>G (p.Thr382=) rs2134853133
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
NM_002334.4(LRP4):c.1184-18C>T
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.1184-5C>T
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu) rs2134851507
NM_002334.4(LRP4):c.1218C>T (p.Ser406=) rs2134851406
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
NM_002334.4(LRP4):c.1237G>A (p.Glu413Lys)
NM_002334.4(LRP4):c.1279C>T (p.Arg427Trp)
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln) rs569764064
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln)
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
NM_002334.4(LRP4):c.1306C>T (p.Leu436=) rs368827270
NM_002334.4(LRP4):c.1309+5G>C
NM_002334.4(LRP4):c.1310-3C>T rs1941491191
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr) rs1023257694
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr) rs1555174047
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
NM_002334.4(LRP4):c.1436G>A (p.Arg479His)
NM_002334.4(LRP4):c.1436G>T (p.Arg479Leu)
NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)
NM_002334.4(LRP4):c.1487A>G (p.Asn496Ser) rs746759136
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys) rs779961860
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile) rs769948678
NM_002334.4(LRP4):c.1540+13G>A
NM_002334.4(LRP4):c.1540+17C>A
NM_002334.4(LRP4):c.1540+18A>G
NM_002334.4(LRP4):c.1540+3A>G rs2134849214
NM_002334.4(LRP4):c.1540+9C>T
NM_002334.4(LRP4):c.1541-16T>C
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
NM_002334.4(LRP4):c.1546C>T (p.Leu516=) rs1592539185
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
NM_002334.4(LRP4):c.1584C>A (p.Thr528=) rs574108233
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
NM_002334.4(LRP4):c.162C>G (p.Asp54Glu)
NM_002334.4(LRP4):c.1634G>A (p.Arg545Gln)
NM_002334.4(LRP4):c.1657C>G (p.Leu553Val) rs751911145
NM_002334.4(LRP4):c.1670G>A (p.Arg557Gln)
NM_002334.4(LRP4):c.1697+19T>C
NM_002334.4(LRP4):c.1698-9_1698-5del rs1941399170
NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu) rs1941398250
NM_002334.4(LRP4):c.1733G>A (p.Arg578His)
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
NM_002334.4(LRP4):c.1915+8C>A
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
NM_002334.4(LRP4):c.199+12C>T
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp) rs1190494235
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.200-26TTTTC[4]
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
NM_002334.4(LRP4):c.2028C>T (p.Ile676=) rs1941385384
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe) rs2134837991
NM_002334.4(LRP4):c.2073C>T (p.His691=)
NM_002334.4(LRP4):c.2081G>A (p.Arg694His) rs1406466481
NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)
NM_002334.4(LRP4):c.2092+12C>T
NM_002334.4(LRP4):c.2092+18G>A
NM_002334.4(LRP4):c.2092+20G>C
NM_002334.4(LRP4):c.2092+5A>G
NM_002334.4(LRP4):c.2093-15dup rs375880498
NM_002334.4(LRP4):c.2093-19C>T rs1181290875
NM_002334.4(LRP4):c.2113A>G (p.Asn705Asp)
NM_002334.4(LRP4):c.2113AAC[1] (p.Asn706del) rs1565792675
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg) rs1382055371
NM_002334.4(LRP4):c.2130G>A (p.Thr710=) rs199674492
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
NM_002334.4(LRP4):c.2175C>T (p.Pro725=) rs369705661
NM_002334.4(LRP4):c.2178T>G (p.Thr726=) rs1941371842
NM_002334.4(LRP4):c.2201A>C (p.His734Pro)
NM_002334.4(LRP4):c.2213A>C (p.Gln738Pro)
NM_002334.4(LRP4):c.2213A>G (p.Gln738Arg)
NM_002334.4(LRP4):c.2215+5G>A rs1941370233
NM_002334.4(LRP4):c.2216-18C>T
NM_002334.4(LRP4):c.2216-20C>A
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
NM_002334.4(LRP4):c.225C>T (p.Asp75=) rs1023732809
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter) rs1565790767
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
NM_002334.4(LRP4):c.2381C>T (p.Thr794Ile) rs2134828263
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) rs753109967
NM_002334.4(LRP4):c.2425-19A>G rs2134827879
NM_002334.4(LRP4):c.2425-6G>T rs1592532832
NM_002334.4(LRP4):c.2442T>C (p.Ser814=) rs2134827694
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=) rs2134827587
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
NM_002334.4(LRP4):c.2506+8T>C
NM_002334.4(LRP4):c.2507-1G>A
NM_002334.4(LRP4):c.2531A>G (p.Asn844Ser) rs2134821602
NM_002334.4(LRP4):c.2534C>T (p.Thr845Ile)
NM_002334.4(LRP4):c.2543G>C (p.Ser848Thr)
NM_002334.4(LRP4):c.2551A>G (p.Thr851Ala) rs2134821502
NM_002334.4(LRP4):c.256C>T (p.Arg86Cys)
NM_002334.4(LRP4):c.2579G>A (p.Arg860His)
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile) rs1370824030
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
NM_002334.4(LRP4):c.2612+12C>T
NM_002334.4(LRP4):c.2612+15C>T rs926960884
NM_002334.4(LRP4):c.2613-11C>A
NM_002334.4(LRP4):c.2613-11_2613-7dup
NM_002334.4(LRP4):c.2617A>G (p.Met873Val)
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro) rs1592529316
NM_002334.4(LRP4):c.2735A>T (p.Tyr912Phe) rs756941634
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg)
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr) rs1486508644
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
NM_002334.4(LRP4):c.2770A>G (p.Met924Val) rs1247727700
NM_002334.4(LRP4):c.2774A>G (p.Lys925Arg)
NM_002334.4(LRP4):c.2786T>G (p.Phe929Cys)
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
NM_002334.4(LRP4):c.2814+10del rs534937304
NM_002334.4(LRP4):c.2814+13_2814+35del
NM_002334.4(LRP4):c.2814+17_2814+39del
NM_002334.4(LRP4):c.2814+9G>A
NM_002334.4(LRP4):c.2815-11G>T
NM_002334.4(LRP4):c.2815-16G>A rs1941096408
NM_002334.4(LRP4):c.2815-20_2815-17dup
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter) rs1218582533
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
NM_002334.4(LRP4):c.2835C>G (p.Leu945=) rs201362411
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) rs1565785959
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) rs541593593
NM_002334.4(LRP4):c.2979T>C (p.His993=)
NM_002334.4(LRP4):c.2989C>T (p.Arg997Cys)
NM_002334.4(LRP4):c.2990G>A (p.Arg997His)
NM_002334.4(LRP4):c.2995C>T (p.Arg999Trp)
NM_002334.4(LRP4):c.2996G>A (p.Arg999Gln)
NM_002334.4(LRP4):c.3002C>G (p.Pro1001Arg)
NM_002334.4(LRP4):c.3004+13T>C
NM_002334.4(LRP4):c.3004+14G>C
NM_002334.4(LRP4):c.3004+18C>A rs2306028
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3004+19G>A
NM_002334.4(LRP4):c.3005-12C>T
NM_002334.4(LRP4):c.3005-4C>T
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
NM_002334.4(LRP4):c.3020C>A (p.Ala1007Asp) rs2134807106
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val) rs886048352
NM_002334.4(LRP4):c.3045C>T (p.His1015=) rs2134807034
NM_002334.4(LRP4):c.3049T>C (p.Cys1017Arg) rs2134807022
NM_002334.4(LRP4):c.3062C>G (p.Pro1021Arg)
NM_002334.4(LRP4):c.3067C>A (p.Pro1023Thr)
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn) rs2134865411
NM_002334.4(LRP4):c.3136+16A>G
NM_002334.4(LRP4):c.3137-13C>T
NM_002334.4(LRP4):c.3137-15del rs2134802550
NM_002334.4(LRP4):c.3137-4G>A
NM_002334.4(LRP4):c.3137-4G>C
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile) rs2134802507
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=) rs2134802462
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
NM_002334.4(LRP4):c.317-12C>G
NM_002334.4(LRP4):c.317-19G>A
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu) rs2134864767
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu) rs1555172311
NM_002334.4(LRP4):c.3267C>A (p.Asp1089Glu)
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser)
NM_002334.4(LRP4):c.3272A>G (p.Gln1091Arg)
NM_002334.4(LRP4):c.3275A>G (p.Glu1092Gly)
NM_002334.4(LRP4):c.3277+5G>A rs374900441
NM_002334.4(LRP4):c.3278-8C>T rs1941033938
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
NM_002334.4(LRP4):c.3343C>A (p.His1115Asn)
NM_002334.4(LRP4):c.3345T>A (p.His1115Gln)
NM_002334.4(LRP4):c.3349G>A (p.Asp1117Asn)
NM_002334.4(LRP4):c.3364+11C>T
NM_002334.4(LRP4):c.3364+17G>T
NM_002334.4(LRP4):c.3364+3G>A
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=) rs2134800312
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
NM_002334.4(LRP4):c.3406C>T (p.Arg1136Trp) rs777439267
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser) rs1941024656
NM_002334.4(LRP4):c.3452G>A (p.Gly1151Asp)
NM_002334.4(LRP4):c.3454A>G (p.Asn1152Asp)
NM_002334.4(LRP4):c.3455A>T (p.Asn1152Ile)
NM_002334.4(LRP4):c.3504T>G (p.Ser1168Arg) rs2134799809
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA rs2134799662
NM_002334.4(LRP4):c.3536+16A>T
NM_002334.4(LRP4):c.3536+18C>T
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile) rs2134798449
NM_002334.4(LRP4):c.3554A>T (p.Asp1185Val)
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) rs387906883
NM_002334.4(LRP4):c.3557G>T (p.Trp1186Leu)
NM_002334.4(LRP4):c.356A>T (p.Asn119Ile)
NM_002334.4(LRP4):c.3571A>C (p.Lys1191Gln)
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
NM_002334.4(LRP4):c.3613C>T (p.Leu1205Phe)
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser) rs1941000568
NM_002334.4(LRP4):c.3642T>G (p.Asn1214Lys)
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002334.4(LRP4):c.3699+13T>C
NM_002334.4(LRP4):c.3699+19C>T
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.3699+8C>T
NM_002334.4(LRP4):c.3699+9C>A
NM_002334.4(LRP4):c.3699+9C>T
NM_002334.4(LRP4):c.3700-10T>C rs975882066
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=) rs2134797059
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
NM_002334.4(LRP4):c.3890T>C (p.Met1297Thr)
NM_002334.4(LRP4):c.3907G>A (p.Asp1303Asn) rs2134796086
NM_002334.4(LRP4):c.3908A>C (p.Asp1303Ala) rs777142871
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln)
NM_002334.4(LRP4):c.3925+3G>A rs1217353454
NM_002334.4(LRP4):c.3926-17G>A
NM_002334.4(LRP4):c.3926-5A>G
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser) rs756790038
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=) rs2134794190
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=) rs2134794079
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro) rs1565782170
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=) rs371098163
NM_002334.4(LRP4):c.4133A>G (p.His1378Arg)
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) rs765240067
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys)
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala) rs202151304
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly) rs202151304
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=) rs1181126034
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys) rs2134793655
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
NM_002334.4(LRP4):c.4229+11C>T
NM_002334.4(LRP4):c.4229+15G>A
NM_002334.4(LRP4):c.4229+20C>G
NM_002334.4(LRP4):c.4229+4T>C rs1836121973
NM_002334.4(LRP4):c.4230-10T>C rs1940930151
NM_002334.4(LRP4):c.4230-12G>A
NM_002334.4(LRP4):c.4234G>A (p.Ala1412Thr) rs2134789997
NM_002334.4(LRP4):c.4264G>C (p.Val1422Leu) rs2134789849
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=) rs1940926502
NM_002334.4(LRP4):c.430+4G>A
NM_002334.4(LRP4):c.431-3del rs562071882
NM_002334.4(LRP4):c.431-9T>A rs1941620373
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)
NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
NM_002334.4(LRP4):c.4424C>G (p.Ala1475Gly) rs1314468807
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn) rs1451422777
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
NM_002334.4(LRP4):c.4584-14_4584-10del rs748959880
NM_002334.4(LRP4):c.4584-16_4584-15del rs768340393
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348
NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)
NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)
NM_002334.4(LRP4):c.4693-11C>T rs1409382852
NM_002334.4(LRP4):c.4693-12C>G
NM_002334.4(LRP4):c.4693-12C>T
NM_002334.4(LRP4):c.4693-16T>C rs2134778241
NM_002334.4(LRP4):c.4702T>G (p.Trp1568Gly) rs2134778108
NM_002334.4(LRP4):c.4727C>G (p.Thr1576Ser) rs2134778058
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=) rs200270681
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys) rs1346806071
NM_002334.4(LRP4):c.4816G>A (p.Val1606Ile) rs2134777729
NM_002334.4(LRP4):c.4837+8C>G rs1243774066
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg) rs1940786470
NM_002334.4(LRP4):c.4838-8G>A
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=) rs2134776744
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr) rs1592515719
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) rs550931351
NM_002334.4(LRP4):c.489G>A (p.Glu163=) rs1941618309
NM_002334.4(LRP4):c.489G>C (p.Glu163Asp) rs1941618309
NM_002334.4(LRP4):c.4909T>C (p.Cys1637Arg) rs2134776522
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg) rs767372563
NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_002334.4(LRP4):c.4937G>C (p.Arg1646Pro) rs3816614
NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu) rs3816614
NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)
NM_002334.4(LRP4):c.4952-10T>C
NM_002334.4(LRP4):c.4952-17T>C
NM_002334.4(LRP4):c.4952-19A>G rs772798728
NM_002334.4(LRP4):c.4952-20C>A
NM_002334.4(LRP4):c.4985C>G (p.Thr1662Ser) rs1384073340
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) rs1455143794
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr) rs747440221
NM_002334.4(LRP4):c.5003G>A (p.Ser1668Asn) rs2134774974
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=) rs2134774940
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His) rs751407728
NM_002334.4(LRP4):c.507T>A (p.Gly169=) rs2134863376
NM_002334.4(LRP4):c.5087+12C>T
NM_002334.4(LRP4):c.5087+13A>G
NM_002334.4(LRP4):c.5087+14A>T rs376251083
NM_002334.4(LRP4):c.5088-6C>T
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) rs560103351
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
NM_002334.4(LRP4):c.5140G>A (p.Val1714Ile) rs1002830453
NM_002334.4(LRP4):c.514G>A (p.Asp172Asn) rs780819863
NM_002334.4(LRP4):c.5155+16C>T
NM_002334.4(LRP4):c.5155+20C>G
NM_002334.4(LRP4):c.5156-11A>G
NM_002334.4(LRP4):c.5162G>A (p.Gly1721Glu) rs2134765636
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe) rs1447336134
NM_002334.4(LRP4):c.5198G>A (p.Ser1733Asn) rs2134765445
NM_002334.4(LRP4):c.52+6C>A
NM_002334.4(LRP4):c.5243+6T>C rs376294734
NM_002334.4(LRP4):c.5244-6C>T
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn) rs1592509652
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu)
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=) rs2134760244
NM_002334.4(LRP4):c.53-12C>G
NM_002334.4(LRP4):c.53-15T>C
NM_002334.4(LRP4):c.53-6G>A
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=) rs750830696
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
NM_002334.4(LRP4):c.5386-12T>C
NM_002334.4(LRP4):c.5386-4C>G
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del) rs769465803
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn) rs373162825
NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser) rs760515633
NM_002334.4(LRP4):c.547+14G>A
NM_002334.4(LRP4):c.547+14G>C rs1243797516
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.548-18C>G rs779705585
NM_002334.4(LRP4):c.548-19A>T
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=) rs911721294
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=) rs2134750971
NM_002334.4(LRP4):c.54C>T (p.Gly18=) rs372935440
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg) rs142462686
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val) rs2134750890
NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)
NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)
NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)
NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)
NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)
NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)
NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu)
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile) rs1940461595
NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)
NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)
NM_002334.4(LRP4):c.5715C>G (p.Val1905=) rs2134750322
NM_002334.4(LRP4):c.591G>A (p.Gln197=) rs1199299804
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr) rs2134862174
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
NM_002334.4(LRP4):c.677-13T>C
NM_002334.4(LRP4):c.677-6C>T
NM_002334.4(LRP4):c.677-7T>G rs1244833731
NM_002334.4(LRP4):c.682C>T (p.His228Tyr) rs2134861515
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
NM_002334.4(LRP4):c.69C>T (p.Pro23=) rs370359994
NM_002334.4(LRP4):c.708C>T (p.Phe236=) rs2134861393
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr) rs770285774
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
NM_002334.4(LRP4):c.774C>T (p.Asp258=) rs2134861192
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
NM_002334.4(LRP4):c.796+18A>T
NM_002334.4(LRP4):c.796+20T>C
NM_002334.4(LRP4):c.796+7G>A
NM_002334.4(LRP4):c.797-3C>T rs1941546855
NM_002334.4(LRP4):c.798C>T (p.Thr266=) rs2134856058
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr)
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)
NM_002334.4(LRP4):c.827G>A (p.Arg276His) rs1592543038
NM_002334.4(LRP4):c.83G>A (p.Gly28Asp) rs1183268699
NM_002334.4(LRP4):c.841C>T (p.Arg281Cys)
NM_002334.4(LRP4):c.862C>G (p.Arg288Gly)
NM_002334.4(LRP4):c.863G>A (p.Arg288His)
NM_002334.4(LRP4):c.86G>A (p.Arg29Gln)
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly) rs1941543958
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
NM_002334.4(LRP4):c.922+13G>C
NM_002334.4(LRP4):c.923-11C>T
NM_002334.4(LRP4):c.923-14del
NM_002334.4(LRP4):c.923-8C>T
NM_002334.4(LRP4):c.926G>A (p.Ser309Asn)
NM_002334.4(LRP4):c.933A>C (p.Gln311His)
NM_002334.4(LRP4):c.952C>G (p.Leu318Val) rs2134854486
NM_002334.4(LRP4):c.970T>A (p.Cys324Ser) rs2134854401
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.2(SALL1):c.76+10C>G rs758439424
NM_002968.3(SALL1):c.1027dup (p.Ile343fs) rs2143448046
NM_002968.3(SALL1):c.1028dup (p.Leu344fs) rs2143448019
NM_002968.3(SALL1):c.1030T>C (p.Leu344=)
NM_002968.3(SALL1):c.109A>T (p.Thr37Ser)
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del) rs758101035
NM_002968.3(SALL1):c.1135G>T (p.Ala379Ser)
NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter)
NM_002968.3(SALL1):c.1199C>T (p.Ser400Leu)
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
NM_002968.3(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.3(SALL1):c.1225A>G (p.Ile409Val)
NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala)
NM_002968.3(SALL1):c.1306T>G (p.Phe436Val)
NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter)
NM_002968.3(SALL1):c.1324del (p.Ser442fs) rs1597230288
NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu)
NM_002968.3(SALL1):c.1350G>A (p.Lys450=)
NM_002968.3(SALL1):c.1362C>T (p.Cys454=)
NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly)
NM_002968.3(SALL1):c.1417G>T (p.Gly473Ter)
NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs) rs2143446012
NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu)
NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser)
NM_002968.3(SALL1):c.1566G>A (p.Thr522=)
NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys)
NM_002968.3(SALL1):c.1589T>G (p.Met530Arg)
NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala)
NM_002968.3(SALL1):c.1665C>T (p.Val555=) rs201565524
NM_002968.3(SALL1):c.1716G>A (p.Thr572=)
NM_002968.3(SALL1):c.1728C>A (p.Ala576=)
NM_002968.3(SALL1):c.1731C>G (p.Pro577=) rs767216757
NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile)
NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln)
NM_002968.3(SALL1):c.1854A>G (p.Pro618=) rs2143444187
NM_002968.3(SALL1):c.1871G>A (p.Ser624Asn)
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.1921G>A (p.Val641Ile)
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr)
NM_002968.3(SALL1):c.1955C>T (p.Ala652Val)
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)
NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg)
NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser)
NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala)
NM_002968.3(SALL1):c.2046A>G (p.Ser682=)
NM_002968.3(SALL1):c.2070G>A (p.Lys690=)
NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr)
NM_002968.3(SALL1):c.2105C>T (p.Ala702Val)
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)
NM_002968.3(SALL1):c.2130C>G (p.Ile710Met)
NM_002968.3(SALL1):c.2181A>G (p.Thr727=) rs1962388882
NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys)
NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg)
NM_002968.3(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs)
NM_002968.3(SALL1):c.2343G>A (p.Leu781=)
NM_002968.3(SALL1):c.2356C>A (p.Arg786=)
NM_002968.3(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.3(SALL1):c.2393T>G (p.Val798Gly)
NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr)
NM_002968.3(SALL1):c.2416A>G (p.Met806Val)
NM_002968.3(SALL1):c.2436C>A (p.Ser812=)
NM_002968.3(SALL1):c.243A>C (p.Pro81=)
NM_002968.3(SALL1):c.2460C>T (p.Asp820=)
NM_002968.3(SALL1):c.246C>T (p.Pro82=)
NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp)
NM_002968.3(SALL1):c.2511C>A (p.Ile837=)
NM_002968.3(SALL1):c.2535C>T (p.Asp845=)
NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys)
NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser)
NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu)
NM_002968.3(SALL1):c.2589C>T (p.Ile863=)
NM_002968.3(SALL1):c.2643A>G (p.Leu881=)
NM_002968.3(SALL1):c.268C>T (p.Pro90Ser) rs749198993
NM_002968.3(SALL1):c.2742T>C (p.Ala914=)
NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg)
NM_002968.3(SALL1):c.2793G>A (p.Pro931=)
NM_002968.3(SALL1):c.2798_2803dup (p.Asn933_Ser934dup) rs760807997
NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly)
NM_002968.3(SALL1):c.2805G>A (p.Thr935=)
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) rs766899404
NM_002968.3(SALL1):c.2862C>T (p.Ser954=)
NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys)
NM_002968.3(SALL1):c.2870C>G (p.Ala957Gly)
NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe)
NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr)
NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys)
NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs) rs1597228188
NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile)
NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs)
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3180C>T (p.Leu1060=)
NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser)
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe)
NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser)
NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu)
NM_002968.3(SALL1):c.3537A>G (p.Val1179=)
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.3(SALL1):c.359A>T (p.Asp120Val)
NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro)
NM_002968.3(SALL1):c.3630C>T (p.Pro1210=)
NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile)
NM_002968.3(SALL1):c.3666G>A (p.Ala1222=)
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)
NM_002968.3(SALL1):c.3801C>T (p.Leu1267=)
NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser)
NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys) rs1962320266
NM_002968.3(SALL1):c.389C>T (p.Pro130Leu) rs576713482
NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys)
NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys)
NM_002968.3(SALL1):c.3963C>T (p.Ile1321=)
NM_002968.3(SALL1):c.3966C>T (p.Val1322=)
NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr)
NM_002968.3(SALL1):c.420del (p.Ser141fs) rs1962442258
NM_002968.3(SALL1):c.424G>A (p.Gly142Ser) rs553871743
NM_002968.3(SALL1):c.429C>G (p.Ser143Arg)
NM_002968.3(SALL1):c.442G>A (p.Ala148Thr)
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[8] (p.Ser158_Ser159del)
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.45C>T (p.Asp15=)
NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del)
NM_002968.3(SALL1):c.469_512dup (p.Ile172fs)
NM_002968.3(SALL1):c.471C>T (p.Ser157=) rs1314370026
NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr)
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.481G>A (p.Gly161Ser)
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
NM_002968.3(SALL1):c.549A>G (p.Thr183=)
NM_002968.3(SALL1):c.567C>G (p.Ser189=)
NM_002968.3(SALL1):c.61C>A (p.Leu21Ile)
NM_002968.3(SALL1):c.630C>A (p.Phe210Leu)
NM_002968.3(SALL1):c.648C>T (p.Cys216=)
NM_002968.3(SALL1):c.651C>T (p.Gly217=)
NM_002968.3(SALL1):c.662G>A (p.Gly221Glu)
NM_002968.3(SALL1):c.663G>C (p.Gly221=)
NM_002968.3(SALL1):c.691del (p.Glu231fs) rs2143449682
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_002968.3(SALL1):c.71G>T (p.Arg24Leu)
NM_002968.3(SALL1):c.750dup (p.Arg251fs) rs1962428520
NM_002968.3(SALL1):c.76+15C>A
NM_002968.3(SALL1):c.76+5G>A
NM_002968.3(SALL1):c.77-5T>A
NM_002968.3(SALL1):c.801T>C (p.Ser267=)
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
NM_002968.3(SALL1):c.819T>A (p.Gly273=)
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.3(SALL1):c.827G>C (p.Arg276Pro)
NM_002968.3(SALL1):c.855A>G (p.Leu285=) rs762324270
NM_002968.3(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.3(SALL1):c.868T>C (p.Ser290Pro)
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236
NM_002968.3(SALL1):c.870dup (p.Gln291fs) rs2143448859
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) rs1962424706
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)
NM_002968.3(SALL1):c.878_887del (p.Leu293fs)
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs) rs2143448771
NM_002968.3(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.972C>A (p.Ser324Arg)
NM_002968.3(SALL1):c.983A>G (p.Asn328Ser)
NM_002968.3(SALL1):c.9G>A (p.Arg3=)
NM_003289.4(TPM2):c.104G>T (p.Arg35Leu)
NM_003289.4(TPM2):c.114+10G>A rs1416639797
NM_003289.4(TPM2):c.115-14C>A
NM_003289.4(TPM2):c.115-16G>A
NM_003289.4(TPM2):c.115-5C>T rs1587966246
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.14AGA[1] (p.Lys6_Lys7del)
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_003289.4(TPM2):c.180T>C (p.Tyr60=) rs1281970248
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.4(TPM2):c.189C>T (p.Ser63=)
NM_003289.4(TPM2):c.196G>A (p.Glu66Lys)
NM_003289.4(TPM2):c.220G>A (p.Ala74Thr)
NM_003289.4(TPM2):c.220del (p.Ala74fs)
NM_003289.4(TPM2):c.240+15G>T
NM_003289.4(TPM2):c.240T>C (p.Asp80=)
NM_003289.4(TPM2):c.241-14C>T
NM_003289.4(TPM2):c.241-5C>T rs372898802
NM_003289.4(TPM2):c.26A>C (p.Gln9Pro) rs1554659746
NM_003289.4(TPM2):c.272G>A (p.Arg91His)
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.301C>T (p.Arg101Trp)
NM_003289.4(TPM2):c.302G>A (p.Arg101Gln) rs2131853430
NM_003289.4(TPM2):c.302G>C (p.Arg101Pro)
NM_003289.4(TPM2):c.306C>T (p.Ala102=)
NM_003289.4(TPM2):c.314G>A (p.Arg105His)
NM_003289.4(TPM2):c.318G>A (p.Leu106=) rs2131853365
NM_003289.4(TPM2):c.341AGG[1] (p.Glu115del) rs1554659007
NM_003289.4(TPM2):c.345G>C (p.Glu115Asp) rs2131853306
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.356C>T (p.Ala119Val)
NM_003289.4(TPM2):c.360TGA[1] (p.Asp121del) rs1554658995
NM_003289.4(TPM2):c.362A>T (p.Asp121Val) rs1824862680
NM_003289.4(TPM2):c.364G>A (p.Glu122Lys) rs2131853219
NM_003289.4(TPM2):c.374+16G>C
NM_003289.4(TPM2):c.374+3G>A
NM_003289.4(TPM2):c.374+9G>A
NM_003289.4(TPM2):c.375-11C>T
NM_003289.4(TPM2):c.375-12C>A
NM_003289.4(TPM2):c.375-13C>T
NM_003289.4(TPM2):c.375-15C>T rs2131852823
NM_003289.4(TPM2):c.379A>G (p.Met127Val)
NM_003289.4(TPM2):c.382A>G (p.Lys128Glu) rs1563929143
NM_003289.4(TPM2):c.388_390dup (p.Ile130dup) rs1824851546
NM_003289.4(TPM2):c.391G>A (p.Glu131Lys)
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003289.4(TPM2):c.398G>C (p.Arg133Pro) rs199476152
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.41A>T (p.Asp14Val) rs1825151618
NM_003289.4(TPM2):c.426A>G (p.Glu142=) rs374856808
NM_003289.4(TPM2):c.428T>A (p.Leu143Gln) rs1824848681
NM_003289.4(TPM2):c.432G>A (p.Gln144=)
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) rs1563929039
NM_003289.4(TPM2):c.464C>T (p.Ala155Val) rs1824846097
NM_003289.4(TPM2):c.470A>G (p.Asp157Gly)
NM_003289.4(TPM2):c.479G>T (p.Arg160Leu)
NM_003289.4(TPM2):c.485A>T (p.Tyr162Phe)
NM_003289.4(TPM2):c.493-11_493-8del rs528068364
NM_003289.4(TPM2):c.493-2A>G rs2131851980
NM_003289.4(TPM2):c.493-7C>T rs1554658928
NM_003289.4(TPM2):c.507G>A (p.Leu169=)
NM_003289.4(TPM2):c.52G>A (p.Ala18Thr)
NM_003289.4(TPM2):c.533G>T (p.Arg178Leu) rs765802464
NM_003289.4(TPM2):c.555G>A (p.Val185=) rs1587957884
NM_003289.4(TPM2):c.562A>T (p.Ser188Cys)
NM_003289.4(TPM2):c.563+13G>A
NM_003289.4(TPM2):c.563+13G>T
NM_003289.4(TPM2):c.563+15G>T
NM_003289.4(TPM2):c.564-18G>C rs756207778
NM_003289.4(TPM2):c.564-19C>T
NM_003289.4(TPM2):c.564-19_564-18insA
NM_003289.4(TPM2):c.564-19_564-18insT
NM_003289.4(TPM2):c.564-19del rs3215700
NM_003289.4(TPM2):c.564-19dup rs3215700
NM_003289.4(TPM2):c.564-20C>T
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.564-20_564-19insT
NM_003289.4(TPM2):c.564-6dup rs1439651784
NM_003289.4(TPM2):c.565A>G (p.Lys189Glu) rs2131849903
NM_003289.4(TPM2):c.577C>G (p.Leu193Val)
NM_003289.4(TPM2):c.589C>T (p.Leu197=) rs2131849835
NM_003289.4(TPM2):c.58G>C (p.Asp20His)
NM_003289.4(TPM2):c.606C>A (p.Asn202Lys) rs137853307
NM_003289.4(TPM2):c.619C>T (p.Leu207=)
NM_003289.4(TPM2):c.627C>G (p.Ala209=) rs2131849764
NM_003289.4(TPM2):c.635A>G (p.Asp212Gly) rs1554658784
NM_003289.4(TPM2):c.639+16G>A
NM_003289.4(TPM2):c.639+6G>C
NM_003289.4(TPM2):c.640-17G>C
NM_003289.4(TPM2):c.640-19GT[6] rs1824762591
NM_003289.4(TPM2):c.640-20C>A
NM_003289.4(TPM2):c.640-9C>T rs1661588104
NM_003289.4(TPM2):c.643T>G (p.Ser215Ala)
NM_003289.4(TPM2):c.653A>C (p.Glu218Ala)
NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter) rs1465836003
NM_003289.4(TPM2):c.663T>C (p.Tyr221=) rs1465836003
NM_003289.4(TPM2):c.669G>A (p.Glu223=) rs148003612
NM_003289.4(TPM2):c.66C>G (p.Ala22=)
NM_003289.4(TPM2):c.672G>A (p.Glu224=)
NM_003289.4(TPM2):c.69G>A (p.Glu23=) rs2131865690
NM_003289.4(TPM2):c.702+17A>C
NM_003289.4(TPM2):c.703-3dup rs1554658707
NM_003289.4(TPM2):c.703-5C>T
NM_003289.4(TPM2):c.703-9T>C rs2131848760
NM_003289.4(TPM2):c.719A>G (p.Glu240Gly)
NM_003289.4(TPM2):c.727G>A (p.Glu243Lys)
NM_003289.4(TPM2):c.729G>A (p.Glu243=) rs751675623
NM_003289.4(TPM2):c.735T>A (p.Ser245=)
NM_003289.4(TPM2):c.743A>T (p.Lys248Met)
NM_003289.4(TPM2):c.747G>A (p.Leu249=) rs1431432489
NM_003289.4(TPM2):c.757A>G (p.Ile253Val) rs1476739780
NM_003289.4(TPM2):c.75C>T (p.Ala25=)
NM_003289.4(TPM2):c.773-10_773-9insCG rs1554658504
NM_003289.4(TPM2):c.773-11dup
NM_003289.4(TPM2):c.773-15C>T
NM_003289.4(TPM2):c.773-3del rs35401252
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003289.4(TPM2):c.773-5_773-3dup rs35401252
NM_003289.4(TPM2):c.773-5_773-4insT
NM_003289.4(TPM2):c.773-7_773-6insCG
NM_003289.4(TPM2):c.773-9C>A
NM_003289.4(TPM2):c.773-9_773-8insA rs756328776
NM_003289.4(TPM2):c.773-9_773-8insCA rs1554658503
NM_003289.4(TPM2):c.773-9_773-8insG rs756328776
NM_003289.4(TPM2):c.781T>C (p.Tyr261His)
NM_003289.4(TPM2):c.816G>A (p.Glu272=)
NM_003289.4(TPM2):c.81C>A (p.Ala27=) rs564977715
NM_003289.4(TPM2):c.81C>T (p.Ala27=) rs564977715
NM_003289.4(TPM2):c.829G>A (p.Ala277Thr)
NM_003289.4(TPM2):c.830C>T (p.Ala277Val) rs1824673399
NM_003289.4(TPM2):c.832C>T (p.Leu278Phe)
NM_003334.4(UBA1):c.1011C>G (p.His337Gln) rs1044559809
NM_003334.4(UBA1):c.1038A>G (p.Pro346=) rs1936453717
NM_003334.4(UBA1):c.1041T>A (p.Pro347=) rs2147259947
NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)
NM_003334.4(UBA1):c.1043G>A (p.Arg348Gln)
NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys) rs1556788657
NM_003334.4(UBA1):c.1054G>A (p.Glu352Lys) rs2147260047
NM_003334.4(UBA1):c.1056+20A>G
NM_003334.4(UBA1):c.106G>A (p.Val36Met) rs990805894
NM_003334.4(UBA1):c.1089G>T (p.Gln363His)
NM_003334.4(UBA1):c.1090G>A (p.Ala364Thr)
NM_003334.4(UBA1):c.1094T>C (p.Val365Ala) rs2147260730
NM_003334.4(UBA1):c.1114G>A (p.Ala372Thr) rs2147260791
NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)
NM_003334.4(UBA1):c.1115C>T (p.Ala372Val) rs782051479
NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys) rs1936465009
NM_003334.4(UBA1):c.1138G>A (p.Glu380Lys)
NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr) rs1556788813
NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)
NM_003334.4(UBA1):c.118-10C>G
NM_003334.4(UBA1):c.118-11_118-3del rs2147250233
NM_003334.4(UBA1):c.118-1G>C rs2147250287
NM_003334.4(UBA1):c.118-2A>C rs2147250283
NM_003334.4(UBA1):c.1194C>T (p.Asn398=) rs782489931
NM_003334.4(UBA1):c.1218C>T (p.Ala406=) rs2147261112
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003334.4(UBA1):c.1233+15G>A
NM_003334.4(UBA1):c.1233+20G>C
NM_003334.4(UBA1):c.1233+9G>A
NM_003334.4(UBA1):c.1234-18C>T
NM_003334.4(UBA1):c.1234-19_1234-16del
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)
NM_003334.4(UBA1):c.1281T>C (p.Asp427=) rs2147261868
NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser) rs1936478450
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly) rs1936479502
NM_003334.4(UBA1):c.1338+15C>T
NM_003334.4(UBA1):c.1339-17C>T
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)
NM_003334.4(UBA1):c.1377C>T (p.Gly459=) rs2147262470
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn) rs782565391
NM_003334.4(UBA1):c.1420-18T>C rs372944361
NM_003334.4(UBA1):c.1420-18T>G rs372944361
NM_003334.4(UBA1):c.1420-5C>T
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr) rs1602635435
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn) rs2147263751
NM_003334.4(UBA1):c.1533A>G (p.Ser511=) rs2147263778
NM_003334.4(UBA1):c.153C>T (p.Asp51=)
NM_003334.4(UBA1):c.1569T>C (p.Asp523=) rs1602635564
NM_003334.4(UBA1):c.1575+9G>C
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
NM_003334.4(UBA1):c.1612C>A (p.Gln538Lys)
NM_003334.4(UBA1):c.1617G>A (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln) rs1556790802
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)
NM_003334.4(UBA1):c.1673G>A (p.Arg558His) rs782746954
NM_003334.4(UBA1):c.167C>T (p.Ser56Phe) rs2147250370
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)
NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr) rs2147273137
NM_003334.4(UBA1):c.1695C>T (p.Phe565=) rs782804501
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser) rs1556790852
NM_003334.4(UBA1):c.1741+15G>A
NM_003334.4(UBA1):c.1741+20A>G
NM_003334.4(UBA1):c.1742-19C>T
NM_003334.4(UBA1):c.1742-3C>T
NM_003334.4(UBA1):c.177-13C>T
NM_003334.4(UBA1):c.1800A>G (p.Thr600=) rs1233003223
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys) rs1556791125
NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)
NM_003334.4(UBA1):c.1859C>G (p.Ser620Cys)
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)
NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)
NM_003334.4(UBA1):c.1939-10C>G
NM_003334.4(UBA1):c.1939-11_1939-3del rs1936835385
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT
NM_003334.4(UBA1):c.1939-18T>C
NM_003334.4(UBA1):c.1953G>C (p.Glu651Asp) rs2147286332
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp) rs1936314065
NM_003334.4(UBA1):c.1963C>A (p.Leu655Ile)
NM_003334.4(UBA1):c.2003+10T>C
NM_003334.4(UBA1):c.2003+11C>T
NM_003334.4(UBA1):c.2003+22_2003+23del rs782114592
NM_003334.4(UBA1):c.2004-6T>C
NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)
NM_003334.4(UBA1):c.2059G>A (p.Val687Met) rs1298433365
NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)
NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)
NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)
NM_003334.4(UBA1):c.2078G>A (p.Arg693His)
NM_003334.4(UBA1):c.2094G>A (p.Gln698=) rs1556792871
NM_003334.4(UBA1):c.2094G>T (p.Gln698His) rs1556792871
NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)
NM_003334.4(UBA1):c.2106C>G (p.Thr702=) rs1936856451
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)
NM_003334.4(UBA1):c.2124C>T (p.Thr708=) rs2147287638
NM_003334.4(UBA1):c.2130C>A (p.Ala710=) rs782185391
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)
NM_003334.4(UBA1):c.2199+17G>C
NM_003334.4(UBA1):c.2199+8C>T
NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)
NM_003334.4(UBA1):c.2250C>T (p.His750=)
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu) rs1936888439
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)
NM_003334.4(UBA1):c.2274+10C>T
NM_003334.4(UBA1):c.2274+10_2274+14del
NM_003334.4(UBA1):c.2274+14C>G
NM_003334.4(UBA1):c.2274+14C>T
NM_003334.4(UBA1):c.2275-17G>A
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)
NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)
NM_003334.4(UBA1):c.2388C>A (p.Val796=)
NM_003334.4(UBA1):c.2408C>T (p.Ser803Phe)
NM_003334.4(UBA1):c.2413G>A (p.Val805Ile)
NM_003334.4(UBA1):c.241C>T (p.Arg81Trp) rs1168231329
NM_003334.4(UBA1):c.2424T>C (p.His808=) rs1936899956
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)
NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp) rs1569216553
NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)
NM_003334.4(UBA1):c.2464+6_2464+9del rs1175155400
NM_003334.4(UBA1):c.2464+7G>T
NM_003334.4(UBA1):c.2465-5T>C
NM_003334.4(UBA1):c.246C>T (p.Gly82=) rs782336458
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)
NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)
NM_003334.4(UBA1):c.2554-6T>A
NM_003334.4(UBA1):c.2554-6_2554-5del
NM_003334.4(UBA1):c.2595A>T (p.Ala865=) rs139492208
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu) rs1556793890
NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)
NM_003334.4(UBA1):c.2646+11T>A rs367788670
NM_003334.4(UBA1):c.2646+11T>C rs367788670
NM_003334.4(UBA1):c.2646+19_2646+20del
NM_003334.4(UBA1):c.2647-9_2647-6del rs1173482035
NM_003334.4(UBA1):c.264T>C (p.Ala88=)
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met) rs782087876
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)
NM_003334.4(UBA1):c.2745G>T (p.Gly915=) rs2147297953
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu) rs782409785
NM_003334.4(UBA1):c.2778C>T (p.Phe926=) rs2147298051
NM_003334.4(UBA1):c.2793G>A (p.Leu931=) rs782340410
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) rs1556794074
NM_003334.4(UBA1):c.2838+16C>T
NM_003334.4(UBA1):c.2839-13_2839-12del
NM_003334.4(UBA1):c.2839-20C>A
NM_003334.4(UBA1):c.2839-4G>A
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)
NM_003334.4(UBA1):c.2889G>T (p.Leu963=) rs2147303075
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)
NM_003334.4(UBA1):c.2987T>A (p.Met996Lys) rs1602662535
NM_003334.4(UBA1):c.3008C>T (p.Pro1003Leu) rs2147304012
NM_003334.4(UBA1):c.3074G>A (p.Arg1025Gln)
NM_003334.4(UBA1):c.3090C>T (p.His1030=)
NM_003334.4(UBA1):c.3091G>A (p.Val1031Met)
NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)
NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=) rs2147305266
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=) rs2147305287
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)
NM_003334.4(UBA1):c.3173G>A (p.Arg1058His) rs374092856
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)
NM_003334.4(UBA1):c.345+11C>T
NM_003334.4(UBA1):c.345+20T>C
NM_003334.4(UBA1):c.345+20_345+23del
NM_003334.4(UBA1):c.345+29_345+36del
NM_003334.4(UBA1):c.346-16C>T
NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)
NM_003334.4(UBA1):c.356G>A (p.Arg119Gln) rs1556786841
NM_003334.4(UBA1):c.367A>G (p.Ile123Val)
NM_003334.4(UBA1):c.369C>T (p.Ile123=) rs200892576
NM_003334.4(UBA1):c.377A>G (p.Asn126Ser) rs781821596
NM_003334.4(UBA1):c.384C>G (p.Ala128=) rs782618684
NM_003334.4(UBA1):c.384C>T (p.Ala128=)
NM_003334.4(UBA1):c.405C>T (p.Leu135=)
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser) rs1159180530
NM_003334.4(UBA1):c.430G>A (p.Val144Ile) rs781887272
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
NM_003334.4(UBA1):c.480+9G>A
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile) rs1936389956
NM_003334.4(UBA1):c.501C>T (p.Thr167=) rs782020007
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)
NM_003334.4(UBA1):c.540C>T (p.His180=) rs1602629095
NM_003334.4(UBA1):c.545G>A (p.Arg182His)
NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)
NM_003334.4(UBA1):c.559G>T (p.Val187Leu) rs1556787682
NM_003334.4(UBA1):c.572C>T (p.Thr191Met)
NM_003334.4(UBA1):c.574C>A (p.Arg192=) rs185589110
NM_003334.4(UBA1):c.57G>A (p.Pro19=)
NM_003334.4(UBA1):c.587+21del
NM_003334.4(UBA1):c.587+3G>A rs782499064
NM_003334.4(UBA1):c.588-13C>T
NM_003334.4(UBA1):c.588-20C>T
NM_003334.4(UBA1):c.588-4A>C
NM_003334.4(UBA1):c.588-7T>C rs1428822064
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys) rs1936410112
NM_003334.4(UBA1):c.636T>C (p.Asn212=)
NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)
NM_003334.4(UBA1):c.658A>G (p.Met220Val)
NM_003334.4(UBA1):c.667A>G (p.Met223Val)
NM_003334.4(UBA1):c.669G>A (p.Met223Ile)
NM_003334.4(UBA1):c.678+4A>T
NM_003334.4(UBA1):c.678+6G>A
NM_003334.4(UBA1):c.679-16C>G
NM_003334.4(UBA1):c.683A>C (p.Asn228Thr) rs1936415717
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser) rs1936415717
NM_003334.4(UBA1):c.72C>T (p.Ser24=)
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe) rs782434472
NM_003334.4(UBA1):c.750T>C (p.Phe250=) rs1936417887
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)
NM_003334.4(UBA1):c.75T>G (p.Pro25=)
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)
NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)
NM_003334.4(UBA1):c.786T>C (p.Asn262=)
NM_003334.4(UBA1):c.790C>G (p.Pro264Ala)
NM_003334.4(UBA1):c.793A>G (p.Met265Val) rs1936419804
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) rs781996319
NM_003334.4(UBA1):c.811+17G>A
NM_003334.4(UBA1):c.811+18G>C rs2147257670
NM_003334.4(UBA1):c.822C>T (p.Thr274=)
NM_003334.4(UBA1):c.829A>G (p.Ile277Val)
NM_003334.4(UBA1):c.840C>G (p.Thr280=)
NM_003334.4(UBA1):c.840C>T (p.Thr280=) rs1936439884
NM_003334.4(UBA1):c.843C>G (p.Ser281=)
NM_003334.4(UBA1):c.846C>T (p.Asn282=)
NM_003334.4(UBA1):c.84C>T (p.Ser28=) rs782656395
NM_003334.4(UBA1):c.859A>G (p.Ile287Val) rs1556788364
NM_003334.4(UBA1):c.85G>A (p.Val29Met) rs1936300089
NM_003334.4(UBA1):c.874G>A (p.Val292Ile) rs1301756527
NM_003334.4(UBA1):c.875T>C (p.Val292Ala)
NM_003334.4(UBA1):c.909+11C>T
NM_003334.4(UBA1):c.909+9G>T
NM_003334.4(UBA1):c.910-14T>C rs782428315
NM_003334.4(UBA1):c.910-9C>G rs1602632158
NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)
NM_003334.4(UBA1):c.920T>C (p.Val307Ala)
NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)
NM_003334.4(UBA1):c.977C>T (p.Pro326Leu) rs782052714
NM_003334.4(UBA1):c.991A>G (p.Ile331Val)
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs) rs1567386034
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=) rs1439239512
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro) rs1179677806
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu) rs2053545106
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
NM_004380.3(CREBBP):c.1216+4A>G
NM_004380.3(CREBBP):c.1217-16G>A
NM_004380.3(CREBBP):c.1217-17T>C
NM_004380.3(CREBBP):c.1217-19G>A
NM_004380.3(CREBBP):c.1217-20C>T
NM_004380.3(CREBBP):c.1217-4A>G
NM_004380.3(CREBBP):c.1217-7G>A rs2053519519
NM_004380.3(CREBBP):c.1217-7G>T
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
NM_004380.3(CREBBP):c.1330+16G>A
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.1331-24CTGT[2]
NM_004380.3(CREBBP):c.1331-24CTGT[4]
NM_004380.3(CREBBP):c.1331-7G>A
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter) rs2053306001
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs) rs2053305017
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
NM_004380.3(CREBBP):c.1416C>T (p.Asn472=)
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
NM_004380.3(CREBBP):c.1574-14T>C
NM_004380.3(CREBBP):c.1574-15_1574-11del
NM_004380.3(CREBBP):c.1574-17C>A
NM_004380.3(CREBBP):c.1574-17C>G
NM_004380.3(CREBBP):c.1574-2A>G rs2141248421
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.1605A>C (p.Gly535=)
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter) rs398124138
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
NM_004380.3(CREBBP):c.1663del (p.Leu555fs) rs2053266530
NM_004380.3(CREBBP):c.1665G>T (p.Leu555=)
NM_004380.3(CREBBP):c.1676+11G>C
NM_004380.3(CREBBP):c.1676+13_1676+14insA
NM_004380.3(CREBBP):c.1676+9C>T
NM_004380.3(CREBBP):c.1677-13A>G
NM_004380.3(CREBBP):c.1677-18T>C
NM_004380.3(CREBBP):c.1677-4T>G
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.1725C>T (p.Ser575=)
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
NM_004380.3(CREBBP):c.1824-19_1824-16del
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) rs1596909915
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
NM_004380.3(CREBBP):c.1917dup (p.Met640fs) rs1567306142
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
NM_004380.3(CREBBP):c.1941+11G>A
NM_004380.3(CREBBP):c.1941+18G>A
NM_004380.3(CREBBP):c.1941+1G>A rs1555483834
NM_004380.3(CREBBP):c.1941+4G>C
NM_004380.3(CREBBP):c.1941+5G>A rs2053202354
NM_004380.3(CREBBP):c.1941+8G>T
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
NM_004380.3(CREBBP):c.1942-11T>C
NM_004380.3(CREBBP):c.1942-13T>C
NM_004380.3(CREBBP):c.1942-17A>G
NM_004380.3(CREBBP):c.1942-5T>C rs1482514446
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) rs1596908213
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
NM_004380.3(CREBBP):c.2113+11T>C
NM_004380.3(CREBBP):c.2113+13T>C
NM_004380.3(CREBBP):c.2113+19A>G
NM_004380.3(CREBBP):c.2113+20C>T
NM_004380.3(CREBBP):c.2113+3A>G
NM_004380.3(CREBBP):c.2114-14T>C
NM_004380.3(CREBBP):c.2114-5C>A
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2158+14T>C
NM_004380.3(CREBBP):c.2158+18G>A
NM_004380.3(CREBBP):c.2158+19T>C
NM_004380.3(CREBBP):c.2159-12G>A
NM_004380.3(CREBBP):c.2159-15T>C
NM_004380.3(CREBBP):c.2159-19G>A
NM_004380.3(CREBBP):c.2159-20C>T
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
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.2224C>T (p.Arg742Cys)
NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
NM_004380.3(CREBBP):c.2233del (p.Ser745fs) rs2053092574
NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2283+11T>C
NM_004380.3(CREBBP):c.2283+16C>T
NM_004380.3(CREBBP):c.2283+18C>G
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2284-5C>T
NM_004380.3(CREBBP):c.2284-7C>T
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) rs1057520652
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.2322del (p.Asn774fs) rs1596895545
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.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
NM_004380.3(CREBBP):c.2463+17G>A
NM_004380.3(CREBBP):c.2463+4C>T
NM_004380.3(CREBBP):c.2464-17_2464-16del
NM_004380.3(CREBBP):c.2464-19C>G
NM_004380.3(CREBBP):c.2464-1G>A rs2052993075
NM_004380.3(CREBBP):c.2464-6T>A rs2052993184
NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
NM_004380.3(CREBBP):c.2497C>T (p.Leu833Phe)
NM_004380.3(CREBBP):c.24A>G (p.Gly8=)
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
NM_004380.3(CREBBP):c.2502C>T (p.Asn834=)
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2511G>T (p.Gly837=)
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
NM_004380.3(CREBBP):c.252A>G (p.Pro84=) rs727503893
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
NM_004380.3(CREBBP):c.2556A>G (p.Pro852=)
NM_004380.3(CREBBP):c.255A>G (p.Gly85=)
NM_004380.3(CREBBP):c.2561A>C (p.His854Pro)
NM_004380.3(CREBBP):c.2571G>A (p.Pro857=)
NM_004380.3(CREBBP):c.2571G>T (p.Pro857=)
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.2596A>G (p.Met866Val)
NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=) rs747968181
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.273C>T (p.Ala91=)
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter) rs1596886183
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
NM_004380.3(CREBBP):c.2794del (p.Thr932fs) rs2052980008
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del) rs2141199443
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2847G>A (p.Pro949=)
NM_004380.3(CREBBP):c.2849C>A (p.Thr950Lys)
NM_004380.3(CREBBP):c.2851C>A (p.Pro951Thr)
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.2854G>T (p.Val952Leu)
NM_004380.3(CREBBP):c.2880+17_2880+18del
NM_004380.3(CREBBP):c.2881-13G>A rs751913060
NM_004380.3(CREBBP):c.2881-14C>G
NM_004380.3(CREBBP):c.2881-14C>T
NM_004380.3(CREBBP):c.2881-17T>C
NM_004380.3(CREBBP):c.2881-18C>A
NM_004380.3(CREBBP):c.2881-4A>G
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
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.2928C>T (p.Ser976=)
NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser) rs886042430
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
NM_004380.3(CREBBP):c.3061-12G>A
NM_004380.3(CREBBP):c.3061-19C>G
NM_004380.3(CREBBP):c.3061-6C>G
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs) rs1597054430
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
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.3200G>A (p.Ser1067Asn)
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
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.3214T>G (p.Ser1072Ala)
NM_004380.3(CREBBP):c.3219G>A (p.Gln1073=)
NM_004380.3(CREBBP):c.3223A>G (p.Thr1075Ala)
NM_004380.3(CREBBP):c.3234G>T (p.Ser1078=)
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.3250+11T>C
NM_004380.3(CREBBP):c.3250+15C>T
NM_004380.3(CREBBP):c.3250+16A>T
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.3251-13G>A
NM_004380.3(CREBBP):c.3251-19C>T
NM_004380.3(CREBBP):c.3251-8C>G
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.3307C>T (p.Arg1103Ter)
NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
NM_004380.3(CREBBP):c.3369+1G>A rs587783480
NM_004380.3(CREBBP):c.3370-10T>A
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.3370-18C>A
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro) rs2151383792
NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=) rs2151383343
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=) rs536159666
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
NM_004380.3(CREBBP):c.3609+20C>T
NM_004380.3(CREBBP):c.3610-14C>T
NM_004380.3(CREBBP):c.3610-1G>A rs1596852670
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs) rs2052610724
NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
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.3676del (p.Ala1226fs) rs2151381815
NM_004380.3(CREBBP):c.3698+11A>G
NM_004380.3(CREBBP):c.3698+6C>T
NM_004380.3(CREBBP):c.36del (p.Arg14fs) rs2055490682
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
NM_004380.3(CREBBP):c.3779+10G>A
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.3780-12T>C
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
NM_004380.3(CREBBP):c.37A>C (p.Lys13Gln) rs587783484
NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.3836+15A>G
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3836+1G>C rs200782888
NM_004380.3(CREBBP):c.3837-19C>T
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.3883G>A (p.Val1295Ile)
NM_004380.3(CREBBP):c.390C>T (p.Ala130=)
NM_004380.3(CREBBP):c.3914+11T>A
NM_004380.3(CREBBP):c.3914+11T>G
NM_004380.3(CREBBP):c.3914+13C>T
NM_004380.3(CREBBP):c.3914+17_3914+32del
NM_004380.3(CREBBP):c.3914+20C>T
NM_004380.3(CREBBP):c.3915-15A>G
NM_004380.3(CREBBP):c.3915-20A>C
NM_004380.3(CREBBP):c.3918T>C (p.Phe1306=)
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala) rs2151354200
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
NM_004380.3(CREBBP):c.3925G>A (p.Asp1309Asn)
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) rs1567276741
NM_004380.3(CREBBP):c.3978T>C (p.Ala1326=) rs2151353919
NM_004380.3(CREBBP):c.3982+14A>C
NM_004380.3(CREBBP):c.3982+15del
NM_004380.3(CREBBP):c.3982+19T>C
NM_004380.3(CREBBP):c.3983-17C>G
NM_004380.3(CREBBP):c.3983-4del
NM_004380.3(CREBBP):c.3983-7T>C
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.4133+20A>G
NM_004380.3(CREBBP):c.4133+6TG[4]
NM_004380.3(CREBBP):c.4133+7G>A
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
NM_004380.3(CREBBP):c.4158T>A (p.Ser1386=)
NM_004380.3(CREBBP):c.4161A>G (p.Glu1387=)
NM_004380.3(CREBBP):c.4170A>G (p.Pro1390=)
NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr) rs2052153254
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) rs1555473668
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
NM_004380.3(CREBBP):c.4280+20del
NM_004380.3(CREBBP):c.4281-19A>G
NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
NM_004380.3(CREBBP):c.4329T>A (p.Arg1443=)
NM_004380.3(CREBBP):c.432C>T (p.Thr144=)
NM_004380.3(CREBBP):c.4332C>T (p.Cys1444=)
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile) rs2151334254
NM_004380.3(CREBBP):c.435C>G (p.Pro145=)
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
NM_004380.3(CREBBP):c.4394+3G>A
NM_004380.3(CREBBP):c.4394+5G>C
NM_004380.3(CREBBP):c.4394+9G>C
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4395-13G>T rs761012080
NM_004380.3(CREBBP):c.4395-14C>T
NM_004380.3(CREBBP):c.4395-2A>C rs2151330226
NM_004380.3(CREBBP):c.4395-6C>T rs2151330246
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs) rs2052073167
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.4440T>C (p.Asp1480=)
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
NM_004380.3(CREBBP):c.4465C>A (p.Pro1489Thr)
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala) rs1303444757
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser) rs199817036
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter) rs2052070776
NM_004380.3(CREBBP):c.44C>G (p.Ala15Gly)
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg) rs1596805575
NM_004380.3(CREBBP):c.4560+10G>A
NM_004380.3(CREBBP):c.4560+11C>A
NM_004380.3(CREBBP):c.4560+20G>T
NM_004380.3(CREBBP):c.4561-1G>A rs2151327974
NM_004380.3(CREBBP):c.4561-20_4561-19del
NM_004380.3(CREBBP):c.4561-2A>T rs2151327978
NM_004380.3(CREBBP):c.4561-3C>A
NM_004380.3(CREBBP):c.4561-7C>T
NM_004380.3(CREBBP):c.4561-9C>T
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs) rs1555472938
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter) rs1555472931
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter) rs778375586
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs) rs2151327706
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
NM_004380.3(CREBBP):c.4728+4C>G
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4729-12G>A
NM_004380.3(CREBBP):c.4729-13C>T
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.4729-17C>T
NM_004380.3(CREBBP):c.4729-18C>G
NM_004380.3(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu) rs746079826
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
NM_004380.3(CREBBP):c.4890+16G>A
NM_004380.3(CREBBP):c.4890+17G>A
NM_004380.3(CREBBP):c.4890+8T>C
NM_004380.3(CREBBP):c.4891-12C>T
NM_004380.3(CREBBP):c.4891-17C>T
NM_004380.3(CREBBP):c.4891-6C>T
NM_004380.3(CREBBP):c.4891-8T>C
NM_004380.3(CREBBP):c.4893C>A (p.Val1631=)
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
NM_004380.3(CREBBP):c.4899C>T (p.Phe1633=)
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=) rs375829291
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs) rs2151317319
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
NM_004380.3(CREBBP):c.49del (p.Leu17fs) rs2055490182
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr) rs2151316910
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter) rs1555471874
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter) rs2051909999
NM_004380.3(CREBBP):c.5034C>T (p.Phe1678=)
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5049C>T (p.Arg1683=)
NM_004380.3(CREBBP):c.504G>C (p.Thr168=)
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro) rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu) rs1275659601
NM_004380.3(CREBBP):c.510G>A (p.Gln170=)
NM_004380.3(CREBBP):c.5127G>A (p.Glu1709=)
NM_004380.3(CREBBP):c.5133G>A (p.Lys1711=)
NM_004380.3(CREBBP):c.5139C>T (p.His1713=)
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=) rs376575063
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
NM_004380.3(CREBBP):c.5172+13C>A
NM_004380.3(CREBBP):c.5172+4G>A
NM_004380.3(CREBBP):c.5173-10T>G
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=) rs759268055
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=) rs1567263707
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs) rs2151311901
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln) rs2151311865
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
NM_004380.3(CREBBP):c.5415C>T (p.Thr1805=)
NM_004380.3(CREBBP):c.5418G>A (p.Lys1806=)
NM_004380.3(CREBBP):c.5439C>T (p.Asn1813=)
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
NM_004380.3(CREBBP):c.5451G>A (p.Pro1817=)
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.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro) rs770325046
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) rs1567263114
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
NM_004380.3(CREBBP):c.567del (p.Asn190fs) rs2054809165
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) rs1555471323
NM_004380.3(CREBBP):c.5695A>G (p.Thr1899Ala)
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter) rs2151308298
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
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.5817C>A (p.Thr1939=)
NM_004380.3(CREBBP):c.581del (p.Gly194fs) rs2141491677
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs) rs1596786167
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val) rs986406817
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
NM_004380.3(CREBBP):c.5910G>A (p.Gln1970=)
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
NM_004380.3(CREBBP):c.5919C>T (p.Tyr1973=)
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
NM_004380.3(CREBBP):c.5922G>T (p.Arg1974=)
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
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.5972C>T (p.Pro1991Leu)
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg) rs751739281
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=) rs763241697
NM_004380.3(CREBBP):c.6034G>A (p.Val2012Ile)
NM_004380.3(CREBBP):c.6045C>T (p.Ser2015=)
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.6072G>A (p.Ala2024=)
NM_004380.3(CREBBP):c.6077T>A (p.Leu2026His)
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
NM_004380.3(CREBBP):c.61G>A (p.Gly21Ser)
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
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.6391C>T (p.Pro2131Ser)
NM_004380.3(CREBBP):c.6398T>C (p.Met2133Thr)
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs) rs2051819669
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
NM_004380.3(CREBBP):c.6417G>A (p.Leu2139=)
NM_004380.3(CREBBP):c.6419A>G (p.Gln2140Arg)
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
NM_004380.3(CREBBP):c.6433A>T (p.Met2145Leu)
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
NM_004380.3(CREBBP):c.6453G>C (p.Arg2151=)
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
NM_004380.3(CREBBP):c.6480G>A (p.Ala2160=)
NM_004380.3(CREBBP):c.6480G>T (p.Ala2160=)
NM_004380.3(CREBBP):c.6510C>G (p.Ala2170=)
NM_004380.3(CREBBP):c.6510C>T (p.Ala2170=)
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
NM_004380.3(CREBBP):c.6536A>C (p.Asn2179Thr)
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
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.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6603G>A (p.Gln2201=)
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.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
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.6633A>G (p.Gln2211=)
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.6657C>T (p.Ala2219=)
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
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.6693C>T (p.Phe2231=)
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup) rs753283086
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu) rs1191357764
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val) rs1306100144
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)
NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg) rs2054805900
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del) rs766383937
NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
NM_004380.3(CREBBP):c.70G>A (p.Ala24Thr)
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=) rs763948946
NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=) rs934317603
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
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.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
NM_004380.3(CREBBP):c.799-18A>T
NM_004380.3(CREBBP):c.799-19del rs2141347625
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) rs2053923868
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
NM_004380.3(CREBBP):c.85+11G>A
NM_004380.3(CREBBP):c.85+13_85+28del
NM_004380.3(CREBBP):c.85+14C>T
NM_004380.3(CREBBP):c.85+2T>G
NM_004380.3(CREBBP):c.85+7_85+13del
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
NM_004380.3(CREBBP):c.86-20C>A
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
NM_004380.3(CREBBP):c.907A>G (p.Met303Val) rs1567331335
NM_004380.3(CREBBP):c.927C>G (p.Thr309=) rs575297081
NM_004380.3(CREBBP):c.934A>G (p.Thr312Ala)
NM_004380.3(CREBBP):c.941T>C (p.Ile314Thr)
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
NM_004380.3(CREBBP):c.966G>A (p.Val322=)
NM_004380.3(CREBBP):c.975+3A>G
NM_004380.3(CREBBP):c.975+9C>A
NM_004380.3(CREBBP):c.976-12G>T
NM_004380.3(CREBBP):c.976-20A>G
NM_004380.3(CREBBP):c.976-4T>G
NM_004380.3(CREBBP):c.976-6T>C
NM_004380.3(CREBBP):c.987A>G (p.Gln329=) rs778596455
NM_004380.3(CREBBP):c.993A>C (p.Ser331=)
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln) rs1554670417
NM_004629.2(FANCG):c.1002A>G (p.Leu334=) rs984958735
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter) rs2131055405
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1017T>A (p.His339Gln) rs764465471
NM_004629.2(FANCG):c.1017T>C (p.His339=) rs764465471
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr) rs2131055383
NM_004629.2(FANCG):c.1023C>T (p.Gly341=)
NM_004629.2(FANCG):c.1032C>A (p.Ser344Arg)
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter) rs2131055360
NM_004629.2(FANCG):c.1045A>T (p.Ile349Leu)
NM_004629.2(FANCG):c.105G>C (p.Leu35=)
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter) rs745928033
NM_004629.2(FANCG):c.1063C>T (p.Leu355=) rs1829085262
NM_004629.2(FANCG):c.1065A>G (p.Leu355=)
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_004629.2(FANCG):c.1071G>A (p.Thr357=) rs1829085044
NM_004629.2(FANCG):c.1074G>A (p.Gly358=) rs749198217
NM_004629.2(FANCG):c.1076+15del
NM_004629.2(FANCG):c.1076+16C>T
NM_004629.2(FANCG):c.1076+4A>G rs1829084813
NM_004629.2(FANCG):c.1076+9C>T rs1245972880
NM_004629.2(FANCG):c.1077-13T>G
NM_004629.2(FANCG):c.1077-18T>C
NM_004629.2(FANCG):c.1077-7T>C rs2131054765
NM_004629.2(FANCG):c.1077-8C>T rs1563986100
NM_004629.2(FANCG):c.1077-9A>C
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.1087G>A (p.Ala363Thr)
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu) rs1326382443
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) 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.1116C>G (p.Ala372=) rs2131054695
NM_004629.2(FANCG):c.1116C>T (p.Ala372=)
NM_004629.2(FANCG):c.1122_1123delinsAT (p.Leu374_Leu375=)
NM_004629.2(FANCG):c.1123C>T (p.Leu375=) rs1447583193
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+11C>G
NM_004629.2(FANCG):c.1143+15A>C
NM_004629.2(FANCG):c.1143+17G>A
NM_004629.2(FANCG):c.1143+17G>C
NM_004629.2(FANCG):c.1143+18C>T
NM_004629.2(FANCG):c.1143+4G>A rs2131054635
NM_004629.2(FANCG):c.1143+5G>C rs778328620
NM_004629.2(FANCG):c.1143+8T>C rs2131054621
NM_004629.2(FANCG):c.1144-10C>T rs1159181079
NM_004629.2(FANCG):c.1144-16C>G
NM_004629.2(FANCG):c.1144-18TTC[2]
NM_004629.2(FANCG):c.1144-19C>T
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1144-2A>G
NM_004629.2(FANCG):c.1144-3C>T
NM_004629.2(FANCG):c.1144-5T>C
NM_004629.2(FANCG):c.1144-6C>T
NM_004629.2(FANCG):c.1144-7_1144-6delinsTT rs2131054350
NM_004629.2(FANCG):c.1144-8C>T
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.1158C>T (p.Pro386=) rs201041980
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>A (p.Arg39=)
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.1161_1163dup (p.Pro389_Gly390insPro)
NM_004629.2(FANCG):c.1167_1168del (p.Gly390fs)
NM_004629.2(FANCG):c.1173C>G (p.Pro391=)
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1192T>C (p.Leu398=)
NM_004629.2(FANCG):c.1197G>A (p.Glu399=) rs745472311
NM_004629.2(FANCG):c.1199C>T (p.Ala400Val)
NM_004629.2(FANCG):c.119A>C (p.Gln40Pro)
NM_004629.2(FANCG):c.1209A>G (p.Ala403=)
NM_004629.2(FANCG):c.1209A>T (p.Ala403=)
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter) rs748730134
NM_004629.2(FANCG):c.1216del (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.1228G>A (p.Ala410Thr) rs1829068737
NM_004629.2(FANCG):c.1236T>C (p.Asp412=)
NM_004629.2(FANCG):c.1239C>T (p.Ala413=) rs2131054090
NM_004629.2(FANCG):c.123G>A (p.Gln41=) rs1319799772
NM_004629.2(FANCG):c.123G>C (p.Gln41His)
NM_004629.2(FANCG):c.1240T>C (p.Leu414=)
NM_004629.2(FANCG):c.1246C>T (p.Leu416=)
NM_004629.2(FANCG):c.1246_1247del (p.Leu416fs) rs2131054083
NM_004629.2(FANCG):c.1248_1249del (p.Leu416_Cys417insTer)
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.1266C>T (p.Ser422=)
NM_004629.2(FANCG):c.1269C>T (p.Arg423=) rs753829462
NM_004629.2(FANCG):c.1272A>G (p.Thr424=) rs2131054017
NM_004629.2(FANCG):c.1277C>G (p.Ser426Cys)
NM_004629.2(FANCG):c.1279C>T (p.Leu427=) rs760537318
NM_004629.2(FANCG):c.1282C>T (p.Leu428=) rs2131053992
NM_004629.2(FANCG):c.1292T>C (p.Met431Thr)
NM_004629.2(FANCG):c.129T>A (p.Ala43=)
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.1326C>T (p.Thr442=) rs2131053924
NM_004629.2(FANCG):c.132G>A (p.Gln44=) rs771581491
NM_004629.2(FANCG):c.1333C>T (p.Leu445=)
NM_004629.2(FANCG):c.1338A>T (p.Pro446=) rs758656355
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1350C>G (p.Leu450=)
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
NM_004629.2(FANCG):c.1356C>T (p.Val452=) rs2131053861
NM_004629.2(FANCG):c.1365C>A (p.Thr455=) rs767385265
NM_004629.2(FANCG):c.1365C>T (p.Thr455=) rs767385265
NM_004629.2(FANCG):c.1377G>A (p.Gln459=) rs1587140019
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
NM_004629.2(FANCG):c.1386C>G (p.Ala462=)
NM_004629.2(FANCG):c.138A>C (p.Ala46=) rs1829139114
NM_004629.2(FANCG):c.1392T>C (p.Val464=)
NM_004629.2(FANCG):c.1395A>G (p.Gln465=)
NM_004629.2(FANCG):c.139C>T (p.Leu47=)
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.1410A>G (p.Lys470=) rs2131053755
NM_004629.2(FANCG):c.1416A>G (p.Ala472=) rs1587139991
NM_004629.2(FANCG):c.1416A>T (p.Ala472=) rs1587139991
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
NM_004629.2(FANCG):c.1433+10G>A
NM_004629.2(FANCG):c.1433+1G>A rs1829065047
NM_004629.2(FANCG):c.1433+5G>T
NM_004629.2(FANCG):c.1434-10C>T
NM_004629.2(FANCG):c.1434-14_1434-5del
NM_004629.2(FANCG):c.1434-16C>T
NM_004629.2(FANCG):c.1434-19G>A
NM_004629.2(FANCG):c.1434-1G>C
NM_004629.2(FANCG):c.1434-2A>C rs1829062071
NM_004629.2(FANCG):c.1434-7A>G
NM_004629.2(FANCG):c.1437C>G (p.Cys479Trp) rs904322133
NM_004629.2(FANCG):c.1440C>G (p.Leu480=)
NM_004629.2(FANCG):c.1440C>T (p.Leu480=) rs776146510
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.1464T>G (p.Pro488=)
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln) rs1018027137
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
NM_004629.2(FANCG):c.1480+11C>T
NM_004629.2(FANCG):c.1480+14T>C
NM_004629.2(FANCG):c.1480+15C>G
NM_004629.2(FANCG):c.1480+15C>T
NM_004629.2(FANCG):c.1480+5T>C rs1554670176
NM_004629.2(FANCG):c.1480+5T>G rs1554670176
NM_004629.2(FANCG):c.1481-11G>C
NM_004629.2(FANCG):c.1481-16T>C
NM_004629.2(FANCG):c.1481-18T>C
NM_004629.2(FANCG):c.1481-18T>G
NM_004629.2(FANCG):c.1481-1G>C rs2131053141
NM_004629.2(FANCG):c.1481G>T (p.Gly494Val) rs770011456
NM_004629.2(FANCG):c.1482G>C (p.Gly494=) rs1196684565
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1495T>G (p.Cys499Gly)
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
NM_004629.2(FANCG):c.1498G>A (p.Glu500Lys)
NM_004629.2(FANCG):c.1500G>A (p.Glu500=) rs1045640267
NM_004629.2(FANCG):c.1503G>A (p.Gln501=)
NM_004629.2(FANCG):c.1505G>T (p.Gly502Val)
NM_004629.2(FANCG):c.1506A>T (p.Gly502=)
NM_004629.2(FANCG):c.150C>G (p.Leu50=)
NM_004629.2(FANCG):c.1512G>A (p.Lys504=) rs746983204
NM_004629.2(FANCG):c.1518T>C (p.Asp506=)
NM_004629.2(FANCG):c.1519G>T (p.Ala507Ser)
NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
NM_004629.2(FANCG):c.1521G>C (p.Ala507=)
NM_004629.2(FANCG):c.1525C>T (p.Leu509=)
NM_004629.2(FANCG):c.1530G>A (p.Gln510=) rs2131053024
NM_004629.2(FANCG):c.153A>G (p.Arg51=)
NM_004629.2(FANCG):c.1542A>G (p.Ala514=) rs2131052991
NM_004629.2(FANCG):c.1546G>A (p.Ala516Thr)
NM_004629.2(FANCG):c.1548C>T (p.Ala516=)
NM_004629.2(FANCG):c.1560T>C (p.Arg520=)
NM_004629.2(FANCG):c.156G>A (p.Gly52=)
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter) rs1461242610
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.1582G>A (p.Gly528Ser)
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter) rs1157985962
NM_004629.2(FANCG):c.1586A>G (p.Gln529Arg)
NM_004629.2(FANCG):c.1592C>T (p.Thr531Ile)
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.159C>T (p.Leu53=)
NM_004629.2(FANCG):c.15C>G (p.Thr5=) rs748963569
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
NM_004629.2(FANCG):c.1614C>T (p.Leu538=) rs1189580729
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1620T>C (p.Ser540=)
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+10C>G rs1291672216
NM_004629.2(FANCG):c.1636+13G>A
NM_004629.2(FANCG):c.1636+13dup
NM_004629.2(FANCG):c.1636+14C>T
NM_004629.2(FANCG):c.1636+15A>G
NM_004629.2(FANCG):c.1636+19C>T
NM_004629.2(FANCG):c.1636+1_1636+5delinsA rs1829054259
NM_004629.2(FANCG):c.1636+5G>A rs748961871
NM_004629.2(FANCG):c.1636+7_1636+8delinsGA
NM_004629.2(FANCG):c.1637-13G>A
NM_004629.2(FANCG):c.1637-18T>A rs1829043715
NM_004629.2(FANCG):c.1637-1G>A
NM_004629.2(FANCG):c.1637-2A>G
NM_004629.2(FANCG):c.1637-2_1637-1insCTG rs2131051989
NM_004629.2(FANCG):c.1637-5T>C
NM_004629.2(FANCG):c.1637-7G>A
NM_004629.2(FANCG):c.1642C>G (p.Arg548Gly)
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala) rs1255677446
NM_004629.2(FANCG):c.1651T>C (p.Tyr551His)
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) rs2131051951
NM_004629.2(FANCG):c.1653del (p.His553fs)
NM_004629.2(FANCG):c.1656T>C (p.Phe552=)
NM_004629.2(FANCG):c.1665T>G (p.Leu555=) rs2131051914
NM_004629.2(FANCG):c.1668G>T (p.Gln556His) rs1829042320
NM_004629.2(FANCG):c.1671T>G (p.Thr557=)
NM_004629.2(FANCG):c.1680G>A (p.Arg560=)
NM_004629.2(FANCG):c.1683A>G (p.Leu561=)
NM_004629.2(FANCG):c.1687C>A (p.Arg563=) rs754258080
NM_004629.2(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.2(FANCG):c.168T>C (p.Ser56=) rs2131059736
NM_004629.2(FANCG):c.1692G>A (p.Arg564=)
NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)
NM_004629.2(FANCG):c.1710C>G (p.Leu570=)
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1717A>C (p.Arg573=) rs2131051789
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met) rs200466062
NM_004629.2(FANCG):c.171G>C (p.Leu57=) rs2131059726
NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)
NM_004629.2(FANCG):c.1740G>A (p.Gly580=) rs773083883
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+13T>A
NM_004629.2(FANCG):c.175+15C>T
NM_004629.2(FANCG):c.175+16C>G
NM_004629.2(FANCG):c.175+16C>T
NM_004629.2(FANCG):c.175+16_175+17del
NM_004629.2(FANCG):c.175+4G>C rs1060501869
NM_004629.2(FANCG):c.175+7G>T
NM_004629.2(FANCG):c.175+9G>A
NM_004629.2(FANCG):c.1752T>C (p.Asp584=)
NM_004629.2(FANCG):c.1755T>C (p.Ala585=)
NM_004629.2(FANCG):c.176-14C>T rs1829131097
NM_004629.2(FANCG):c.176-18C>G
NM_004629.2(FANCG):c.176-1G>A rs2131059176
NM_004629.2(FANCG):c.176-20G>A
NM_004629.2(FANCG):c.1760+14C>T
NM_004629.2(FANCG):c.1760+4A>T
NM_004629.2(FANCG):c.1760+7C>T
NM_004629.2(FANCG):c.1760+9C>G
NM_004629.2(FANCG):c.1760+9C>T
NM_004629.2(FANCG):c.1761-10T>C rs1363368892
NM_004629.2(FANCG):c.1761-19C>T
NM_004629.2(FANCG):c.1761-8C>T rs1179718076
NM_004629.2(FANCG):c.1767C>T (p.Leu589=) rs1060504369
NM_004629.2(FANCG):c.1770C>A (p.Pro590=)
NM_004629.2(FANCG):c.1770C>G (p.Pro590=) rs1563984984
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His) rs768325047
NM_004629.2(FANCG):c.1779A>G (p.Leu593=) rs2131051289
NM_004629.2(FANCG):c.177G>A (p.Gly59=) rs1554670511
NM_004629.2(FANCG):c.177G>T (p.Gly59=)
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.1800C>T (p.Ile600=) rs2131051244
NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)
NM_004629.2(FANCG):c.1810G>C (p.Asp604His)
NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)
NM_004629.2(FANCG):c.1825del (p.Glu610fs)
NM_004629.2(FANCG):c.182del (p.Pro61fs)
NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)
NM_004629.2(FANCG):c.1846C>T (p.Leu616=)
NM_004629.2(FANCG):c.1851A>G (p.Pro617=) rs2131051090
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs) rs532302967
NM_004629.2(FANCG):c.1863C>T (p.Asp621=)
NM_004629.2(FANCG):c.1864C>T (p.Leu622=)
NM_004629.2(FANCG):c.193C>T (p.Pro65Ser) rs2131059151
NM_004629.2(FANCG):c.204C>T (p.Pro68=)
NM_004629.2(FANCG):c.210G>A (p.Glu70=)
NM_004629.2(FANCG):c.213G>A (p.Leu71=)
NM_004629.2(FANCG):c.214_217del (p.Thr72fs) rs747660501
NM_004629.2(FANCG):c.21T>C (p.Ser7=) rs747679533
NM_004629.2(FANCG):c.21T>G (p.Ser7=) rs747679533
NM_004629.2(FANCG):c.21dup (p.Val8fs)
NM_004629.2(FANCG):c.228C>T (p.Asn76=)
NM_004629.2(FANCG):c.237C>A (p.Ile79=) rs2131059090
NM_004629.2(FANCG):c.240G>A (p.Leu80=) rs1221719766
NM_004629.2(FANCG):c.243G>A (p.Arg81=)
NM_004629.2(FANCG):c.244G>A (p.Ala82Thr)
NM_004629.2(FANCG):c.24G>T (p.Val8=) rs2131060404
NM_004629.2(FANCG):c.255C>T (p.Ala85=) rs2131059041
NM_004629.2(FANCG):c.261T>C (p.Gly87=) rs2131059036
NM_004629.2(FANCG):c.263T>G (p.Phe88Cys)
NM_004629.2(FANCG):c.273T>C (p.Asp91=) rs2131059024
NM_004629.2(FANCG):c.276G>A (p.Gln92=) rs752352160
NM_004629.2(FANCG):c.279C>T (p.Ala93=) rs2131059010
NM_004629.2(FANCG):c.285T>C (p.Asp95=)
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.294G>A (p.Arg98=)
NM_004629.2(FANCG):c.297C>T (p.Ser99=) rs770190553
NM_004629.2(FANCG):c.300A>G (p.Leu100=)
NM_004629.2(FANCG):c.303G>A (p.Glu101=)
NM_004629.2(FANCG):c.307+11G>A
NM_004629.2(FANCG):c.307+15T>C
NM_004629.2(FANCG):c.307+18T>A
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.307+20C>T
NM_004629.2(FANCG):c.307+7G>A rs768958840
NM_004629.2(FANCG):c.308-11A>C
NM_004629.2(FANCG):c.308-11A>T
NM_004629.2(FANCG):c.308-12T>G
NM_004629.2(FANCG):c.308-15G>A
NM_004629.2(FANCG):c.308-17G>A
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.308-21GT[6] rs756482885
NM_004629.2(FANCG):c.308-4A>G
NM_004629.2(FANCG):c.308-6C>T rs2131058643
NM_004629.2(FANCG):c.310C>T (p.Leu104=) rs1829123908
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
NM_004629.2(FANCG):c.321G>A (p.Gln107=) rs1829123663
NM_004629.2(FANCG):c.322G>A (p.Glu108Lys)
NM_004629.2(FANCG):c.333G>A (p.Gly111=) rs1060504370
NM_004629.2(FANCG):c.335_352del (p.Pro112_Gly117del)
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004629.2(FANCG):c.33C>T (p.Ser11=)
NM_004629.2(FANCG):c.345A>G (p.Glu115=) rs1213271836
NM_004629.2(FANCG):c.351G>A (p.Gly117=)
NM_004629.2(FANCG):c.355A>C (p.Arg119=)
NM_004629.2(FANCG):c.360G>A (p.Glu120=)
NM_004629.2(FANCG):c.363G>C (p.Leu121=)
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter) rs2131058553
NM_004629.2(FANCG):c.375C>A (p.Val125=) rs199754122
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
NM_004629.2(FANCG):c.384T>A (p.Ala128=) rs2131058508
NM_004629.2(FANCG):c.395dup (p.Pro133fs) rs2131058481
NM_004629.2(FANCG):c.396G>A (p.Leu132=)
NM_004629.2(FANCG):c.39G>T (p.Leu13=) rs758976992
NM_004629.2(FANCG):c.403C>A (p.Leu135Met)
NM_004629.2(FANCG):c.405G>A (p.Leu135=) rs1251066873
NM_004629.2(FANCG):c.405G>T (p.Leu135=)
NM_004629.2(FANCG):c.410C>G (p.Ser137Cys) rs1203036492
NM_004629.2(FANCG):c.412G>C (p.Ala138Pro)
NM_004629.2(FANCG):c.415C>T (p.Leu139=)
NM_004629.2(FANCG):c.420C>A (p.His140Gln)
NM_004629.2(FANCG):c.420C>T (p.His140=) rs764566651
NM_004629.2(FANCG):c.426G>C (p.Leu142=)
NM_004629.2(FANCG):c.429T>C (p.Val143=)
NM_004629.2(FANCG):c.431G>C (p.Gly144Ala) rs767880403
NM_004629.2(FANCG):c.432C>T (p.Gly144=)
NM_004629.2(FANCG):c.433C>T (p.Leu145=)
NM_004629.2(FANCG):c.443C>T (p.Ala148Val) rs1829121038
NM_004629.2(FANCG):c.447C>G (p.Leu149=)
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg) rs202114813
NM_004629.2(FANCG):c.45G>C (p.Leu15=) rs750918728
NM_004629.2(FANCG):c.468T>C (p.Leu156=) rs2131058320
NM_004629.2(FANCG):c.480C>T (p.Ala160=) rs746680732
NM_004629.2(FANCG):c.486A>T (p.Leu162Phe) rs779677132
NM_004629.2(FANCG):c.487C>T (p.Leu163=)
NM_004629.2(FANCG):c.495C>T (p.Thr165=) rs1829120053
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
NM_004629.2(FANCG):c.501T>C (p.Asn167=)
NM_004629.2(FANCG):c.510+12del
NM_004629.2(FANCG):c.510+14T>A
NM_004629.2(FANCG):c.510+16_510+17del
NM_004629.2(FANCG):c.510+17C>T
NM_004629.2(FANCG):c.510+5T>C rs921564097
NM_004629.2(FANCG):c.510+7G>C rs1304686615
NM_004629.2(FANCG):c.511-10_511-8del rs1384885358
NM_004629.2(FANCG):c.511-11T>C rs2131057321
NM_004629.2(FANCG):c.511-3_511-2del rs1491369358
NM_004629.2(FANCG):c.511-4C>T
NM_004629.2(FANCG):c.511-5C>G
NM_004629.2(FANCG):c.511-5C>T
NM_004629.2(FANCG):c.511-6C>T rs1244108459
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.517G>A (p.Ala173Thr)
NM_004629.2(FANCG):c.519C>G (p.Ala173=) rs2131057288
NM_004629.2(FANCG):c.51G>A (p.Arg17=) rs2131060330
NM_004629.2(FANCG):c.525G>C (p.Lys175Asn)
NM_004629.2(FANCG):c.529C>T (p.Leu177=) rs1056307632
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys) rs1829144761
NM_004629.2(FANCG):c.534G>C (p.Leu178=) rs2131057260
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.54A>G (p.Glu18=)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.558C>G (p.Pro186=) rs1554670415
NM_004629.2(FANCG):c.560C>A (p.Pro187Gln)
NM_004629.2(FANCG):c.560del (p.Pro187fs) rs2131057213
NM_004629.2(FANCG):c.563C>T (p.Ala188Val)
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter) rs1829104194
NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser) rs1554670412
NM_004629.2(FANCG):c.582A>G (p.Pro194=)
NM_004629.2(FANCG):c.587C>T (p.Thr196Ile)
NM_004629.2(FANCG):c.591G>A (p.Leu197=)
NM_004629.2(FANCG):c.591G>T (p.Leu197=) rs2131057157
NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)
NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)
NM_004629.2(FANCG):c.603G>A (p.Gln201=) rs2131057141
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter) rs1449918930
NM_004629.2(FANCG):c.612G>A (p.Lys204=)
NM_004629.2(FANCG):c.618C>T (p.Val206=) rs1587142434
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.622C>T (p.Leu208=) rs1587142420
NM_004629.2(FANCG):c.626C>T (p.Thr209Ile) rs1382724792
NM_004629.2(FANCG):c.633T>A (p.Phe211Leu)
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.63C>A (p.Asp21Glu)
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
NM_004629.2(FANCG):c.646+18C>T
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.646+8A>G rs2131057022
NM_004629.2(FANCG):c.646+9G>C
NM_004629.2(FANCG):c.647-15C>G
NM_004629.2(FANCG):c.647-18C>T
NM_004629.2(FANCG):c.647-2_649del rs2131056701
NM_004629.2(FANCG):c.647-3C>T rs1311964497
NM_004629.2(FANCG):c.647-4T>G rs1436051790
NM_004629.2(FANCG):c.64C>A (p.Arg22=)
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.666A>G (p.Thr222=)
NM_004629.2(FANCG):c.669G>A (p.Gly223=) rs143230416
NM_004629.2(FANCG):c.672C>T (p.Asn224=) rs774051315
NM_004629.2(FANCG):c.684A>G (p.Ala228=)
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
NM_004629.2(FANCG):c.685C>T (p.Leu229=) rs2131056622
NM_004629.2(FANCG):c.689del (p.Ser230fs) rs2131056614
NM_004629.2(FANCG):c.690C>A (p.Ser230Arg) rs1333976481
NM_004629.2(FANCG):c.690C>T (p.Ser230=)
NM_004629.2(FANCG):c.692del (p.Ser231fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.699T>C (p.His233=)
NM_004629.2(FANCG):c.69C>T (p.Leu23=)
NM_004629.2(FANCG):c.702A>G (p.Glu234=)
NM_004629.2(FANCG):c.70G>C (p.Val24Leu)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.714C>A (p.Gly238=) rs1185716009
NM_004629.2(FANCG):c.714C>G (p.Gly238=)
NM_004629.2(FANCG):c.714C>T (p.Gly238=)
NM_004629.2(FANCG):c.717G>A (p.Leu239=) rs1350532745
NM_004629.2(FANCG):c.717G>C (p.Leu239=)
NM_004629.2(FANCG):c.725G>A (p.Arg242Gln)
NM_004629.2(FANCG):c.729T>G (p.Pro243=) rs199736443
NM_004629.2(FANCG):c.732G>T (p.Val244=)
NM_004629.2(FANCG):c.738C>A (p.Val246=)
NM_004629.2(FANCG):c.73C>A (p.Arg25=)
NM_004629.2(FANCG):c.743T>C (p.Val248Ala) rs1221668009
NM_004629.2(FANCG):c.744G>A (p.Val248=) rs1351998495
NM_004629.2(FANCG):c.763T>C (p.Cys255Arg)
NM_004629.2(FANCG):c.764G>A (p.Cys255Tyr)
NM_004629.2(FANCG):c.768C>T (p.His256=)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter) rs2131060266
NM_004629.2(FANCG):c.777+10G>A rs374991414
NM_004629.2(FANCG):c.777+12C>T
NM_004629.2(FANCG):c.777+15A>G
NM_004629.2(FANCG):c.777+18G>A
NM_004629.2(FANCG):c.777+18G>T
NM_004629.2(FANCG):c.777+1G>A rs1060501862
NM_004629.2(FANCG):c.777+8C>T rs367809061
NM_004629.2(FANCG):c.778-10A>G
NM_004629.2(FANCG):c.778-12C>G
NM_004629.2(FANCG):c.778-13C>A
NM_004629.2(FANCG):c.778-13_778-11del rs2131056154
NM_004629.2(FANCG):c.778-15C>G
NM_004629.2(FANCG):c.778-1G>A rs767518932
NM_004629.2(FANCG):c.778-1G>C rs767518932
NM_004629.2(FANCG):c.778-20G>A rs749563301
NM_004629.2(FANCG):c.778-4T>G rs2131056132
NM_004629.2(FANCG):c.778-9T>A
NM_004629.2(FANCG):c.780A>G (p.Gly260=) rs751407167
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu) rs149721361
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
NM_004629.2(FANCG):c.798G>A (p.Leu266=)
NM_004629.2(FANCG):c.801G>C (p.Leu267Phe) rs1482595465
NM_004629.2(FANCG):c.807G>C (p.Leu269Phe)
NM_004629.2(FANCG):c.819G>A (p.Leu273=) rs2131056040
NM_004629.2(FANCG):c.81C>A (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.824_825del (p.Glu275fs) rs867467817
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
NM_004629.2(FANCG):c.833C>T (p.Ala278Val) rs771395169
NM_004629.2(FANCG):c.834C>T (p.Ala278=) rs1466753644
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
NM_004629.2(FANCG):c.84+13C>T
NM_004629.2(FANCG):c.84+16G>A
NM_004629.2(FANCG):c.84+1G>A
NM_004629.2(FANCG):c.84+8_84+9del rs1829143867
NM_004629.2(FANCG):c.84+9G>A
NM_004629.2(FANCG):c.84+9G>C
NM_004629.2(FANCG):c.84+9del rs2131060242
NM_004629.2(FANCG):c.85-10C>T rs752826583
NM_004629.2(FANCG):c.85-13C>G
NM_004629.2(FANCG):c.85-16C>A
NM_004629.2(FANCG):c.85-18C>T
NM_004629.2(FANCG):c.85-19C>A
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.85-4G>T
NM_004629.2(FANCG):c.85-7G>A rs946449199
NM_004629.2(FANCG):c.85-9_85-8del
NM_004629.2(FANCG):c.865C>A (p.Leu289Ile)
NM_004629.2(FANCG):c.873G>A (p.Gln291=)
NM_004629.2(FANCG):c.877C>T (p.Leu293=)
NM_004629.2(FANCG):c.87G>T (p.Val29=)
NM_004629.2(FANCG):c.882G>C (p.Gly294=)
NM_004629.2(FANCG):c.882G>T (p.Gly294=) rs2131055932
NM_004629.2(FANCG):c.883dup (p.Asp295fs) rs1829092483
NM_004629.2(FANCG):c.889A>G (p.Thr297Ala)
NM_004629.2(FANCG):c.895G>A (p.Glu299Lys)
NM_004629.2(FANCG):c.906_907delinsAT (p.Ser302Arg)
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.912G>A (p.Glu304=)
NM_004629.2(FANCG):c.913C>T (p.Leu305=)
NM_004629.2(FANCG):c.915G>A (p.Leu305=) rs763736360
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.922G>T (p.Glu308Ter)
NM_004629.2(FANCG):c.924+14_924+15del
NM_004629.2(FANCG):c.924+1G>A rs1829091761
NM_004629.2(FANCG):c.924+20A>C
NM_004629.2(FANCG):c.924+9C>T
NM_004629.2(FANCG):c.925-11T>C
NM_004629.2(FANCG):c.925-12T>G
NM_004629.2(FANCG):c.925-13C>A rs896457719
NM_004629.2(FANCG):c.925-13C>T
NM_004629.2(FANCG):c.925-18T>C
NM_004629.2(FANCG):c.925-1G>C
NM_004629.2(FANCG):c.925-1G>T
NM_004629.2(FANCG):c.925-20T>C rs1442157681
NM_004629.2(FANCG):c.925-7C>T
NM_004629.2(FANCG):c.925-9C>T
NM_004629.2(FANCG):c.927C>G (p.Ala309=) rs370002843
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.936C>G (p.Val312=) rs934681493
NM_004629.2(FANCG):c.936C>T (p.Val312=) rs934681493
NM_004629.2(FANCG):c.939A>G (p.Pro313=)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.948C>A (p.Ser316=) rs2131055519
NM_004629.2(FANCG):c.954C>T (p.Ala318=)
NM_004629.2(FANCG):c.955C>A (p.Pro319Thr)
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004629.2(FANCG):c.957G>C (p.Pro319=) rs145092954
NM_004629.2(FANCG):c.965T>G (p.Leu322Arg)
NM_004629.2(FANCG):c.966C>T (p.Leu322=)
NM_004629.2(FANCG):c.978A>G (p.Glu326=)
NM_004629.2(FANCG):c.979T>C (p.Leu327=) rs2131055465
NM_004629.2(FANCG):c.981dup (p.Leu328fs) rs2131055463
NM_004629.2(FANCG):c.982C>T (p.Leu328=) rs1829086717
NM_004629.2(FANCG):c.984A>G (p.Leu328=) rs375991144
NM_004629.2(FANCG):c.987G>A (p.Leu329=) rs2131055445
NM_004629.2(FANCG):c.990A>G (p.Pro330=)
NM_004629.2(FANCG):c.993A>G (p.Pro331=)
NM_004629.2(FANCG):c.996T>A (p.Pro332=)
NM_004629.2(FANCG):c.99C>G (p.Ser33=) rs762740884
NM_004629.2(FANCG):c.9C>G (p.Arg3=) rs2131060423
NM_005055.4(RAPSN):c.-199C>G rs886037842
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) rs549232026
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) rs765096923
NM_005055.5(RAPSN):c.102G>A (p.Glu34=) rs2076432091
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=) rs778622975
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly) rs1252992478
NM_005055.5(RAPSN):c.1047T>C (p.Val349=)
NM_005055.5(RAPSN):c.1050G>A (p.Val350=)
NM_005055.5(RAPSN):c.1050G>C (p.Val350=)
NM_005055.5(RAPSN):c.1059C>T (p.His353=) rs544722226
NM_005055.5(RAPSN):c.105G>A (p.Lys35=) rs2153311746
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter) rs763094966
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln) rs1595896567
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=) rs565321918
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=) rs763018407
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=) rs778228002
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=) rs2153306751
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del) rs759488854
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln) rs1241928450
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=) rs1194287140
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=) rs2076335581
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys) rs1197895855
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=) rs765481657
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
NM_005055.5(RAPSN):c.1166+10C>G
NM_005055.5(RAPSN):c.1166+10C>T
NM_005055.5(RAPSN):c.1166+13G>A
NM_005055.5(RAPSN):c.1166+13G>T
NM_005055.5(RAPSN):c.1166+14G>A
NM_005055.5(RAPSN):c.1166+14G>C
NM_005055.5(RAPSN):c.1166+15G>A rs556595562
NM_005055.5(RAPSN):c.1166+15G>C rs556595562
NM_005055.5(RAPSN):c.1166+15G>T
NM_005055.5(RAPSN):c.1166+16G>T
NM_005055.5(RAPSN):c.1166+17G>A
NM_005055.5(RAPSN):c.1166+18G>C
NM_005055.5(RAPSN):c.1166+19G>A
NM_005055.5(RAPSN):c.1166+19del rs760797252
NM_005055.5(RAPSN):c.1166+19dup
NM_005055.5(RAPSN):c.1166+1G>C
NM_005055.5(RAPSN):c.1166+1G>T
NM_005055.5(RAPSN):c.1166+2T>G
NM_005055.5(RAPSN):c.1166+7G>A
NM_005055.5(RAPSN):c.1166+7G>T rs1395269562
NM_005055.5(RAPSN):c.1167-12T>C
NM_005055.5(RAPSN):c.1167-20A>G
NM_005055.5(RAPSN):c.1167-8C>T
NM_005055.5(RAPSN):c.1167-9C>T
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=) rs2153306281
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) rs768882267
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)
NM_005055.5(RAPSN):c.1185del (p.Thr396fs) rs2153306243
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)
NM_005055.5(RAPSN):c.11dup (p.Asp4fs) rs1565689206
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)
NM_005055.5(RAPSN):c.123G>A (p.Gly41=)
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
NM_005055.5(RAPSN):c.156C>A (p.Ala52=)
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr) rs2076431469
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)
NM_005055.5(RAPSN):c.173G>A (p.Arg58His) rs373437117
NM_005055.5(RAPSN):c.174C>A (p.Arg58=) rs2153311690
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His) rs1555143594
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys) rs2153311689
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)
NM_005055.5(RAPSN):c.180G>A (p.Lys60=)
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)
NM_005055.5(RAPSN):c.189G>A (p.Leu63=)
NM_005055.5(RAPSN):c.192+10C>A rs1202888760
NM_005055.5(RAPSN):c.192+10C>T rs1202888760
NM_005055.5(RAPSN):c.192+11C>T
NM_005055.5(RAPSN):c.192+12del
NM_005055.5(RAPSN):c.192+13G>A
NM_005055.5(RAPSN):c.192+17T>C
NM_005055.5(RAPSN):c.192+2T>G
NM_005055.5(RAPSN):c.192+5G>T
NM_005055.5(RAPSN):c.192+7G>A
NM_005055.5(RAPSN):c.192+8T>C rs759724477
NM_005055.5(RAPSN):c.192+9dup rs2153311675
NM_005055.5(RAPSN):c.193-10C>T rs2153311437
NM_005055.5(RAPSN):c.193-11G>A
NM_005055.5(RAPSN):c.193-12C>T
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.193-16C>A
NM_005055.5(RAPSN):c.193-16C>T
NM_005055.5(RAPSN):c.193-17A>C
NM_005055.5(RAPSN):c.193-18C>T
NM_005055.5(RAPSN):c.193-4G>A
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.193-8G>T
NM_005055.5(RAPSN):c.198T>G (p.Ala66=) rs1131389
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu) rs1565688293
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)
NM_005055.5(RAPSN):c.210del (p.Ile70fs) rs760999895
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn) rs150051760
NM_005055.5(RAPSN):c.226C>T (p.Leu76=)
NM_005055.5(RAPSN):c.228G>A (p.Leu76=) rs2153311384
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn) rs1198989939
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val) rs1007398586
NM_005055.5(RAPSN):c.246C>G (p.Leu82=) rs780420252
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln) rs2076424527
NM_005055.5(RAPSN):c.249G>A (p.Leu83=)
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)
NM_005055.5(RAPSN):c.259C>T (p.Leu87=)
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)
NM_005055.5(RAPSN):c.272G>A (p.Arg91His) rs375218091
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro) rs375218091
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005055.5(RAPSN):c.273C>G (p.Arg91=)
NM_005055.5(RAPSN):c.279C>T (p.Asn93=) rs901210204
NM_005055.5(RAPSN):c.27G>A (p.Gln9=) rs1452323802
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.280del (p.Glu94fs)
NM_005055.5(RAPSN):c.282G>A (p.Glu94=) rs2153311324
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr) rs2153311318
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.294G>A (p.Glu98=) rs1331228474
NM_005055.5(RAPSN):c.297del (p.His100fs) rs2153311310
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)
NM_005055.5(RAPSN):c.300_319del (p.His100fs) rs2153311290
NM_005055.5(RAPSN):c.30C>A (p.Ile10=) rs768838402
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg) rs777801296
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter) rs2076423585
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly) rs2076423375
NM_005055.5(RAPSN):c.327C>T (p.Cys109=) rs769245608
NM_005055.5(RAPSN):c.333G>T (p.Gly111=) rs2153311277
NM_005055.5(RAPSN):c.336G>A (p.Leu112=)
NM_005055.5(RAPSN):c.336G>T (p.Leu112=) rs747080013
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)
NM_005055.5(RAPSN):c.354T>G (p.Gly118=)
NM_005055.5(RAPSN):c.357C>T (p.Ala119=) rs1595902752
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter) rs2076422949
NM_005055.5(RAPSN):c.358del (p.Gln120fs)
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)
NM_005055.5(RAPSN):c.363C>G (p.Leu121=) rs190548363
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379
NM_005055.5(RAPSN):c.375C>T (p.Val125=)
NM_005055.5(RAPSN):c.379C>T (p.Leu127=)
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro) rs2153311254
NM_005055.5(RAPSN):c.39G>T (p.Gly13=) rs770689515
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
NM_005055.5(RAPSN):c.411C>T (p.Ser137=)
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter) rs2153311231
NM_005055.5(RAPSN):c.423G>A (p.Lys141=) rs2153311227
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer)
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr) rs1198813718
NM_005055.5(RAPSN):c.447C>T (p.Ala149=) rs2153311191
NM_005055.5(RAPSN):c.450G>A (p.Leu150=)
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser) rs1595902592
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser) rs142635726
NM_005055.5(RAPSN):c.459C>T (p.Ala153=) rs780030892
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del) rs1595902555
NM_005055.5(RAPSN):c.46dup (p.Leu16fs) rs2153311780
NM_005055.5(RAPSN):c.471T>C (p.Asp157=)
NM_005055.5(RAPSN):c.489C>T (p.Cys163=) rs1202436612
NM_005055.5(RAPSN):c.48G>A (p.Leu16=) rs2076432806
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly) rs104894294
NM_005055.5(RAPSN):c.492C>A (p.Arg164=) rs146237774
NM_005055.5(RAPSN):c.495G>A (p.Val165=)
NM_005055.5(RAPSN):c.495G>C (p.Val165=)
NM_005055.5(RAPSN):c.504C>T (p.Ser168=) rs2153311137
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
NM_005055.5(RAPSN):c.510C>G (p.Gly170=) rs1335659789
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)
NM_005055.5(RAPSN):c.522C>T (p.Ala174=)
NM_005055.5(RAPSN):c.531+15C>G
NM_005055.5(RAPSN):c.531+17G>A
NM_005055.5(RAPSN):c.531+17G>C
NM_005055.5(RAPSN):c.531+18G>A
NM_005055.5(RAPSN):c.531+19G>C
NM_005055.5(RAPSN):c.531+1G>A
NM_005055.5(RAPSN):c.531+20G>A
NM_005055.5(RAPSN):c.531+7C>G
NM_005055.5(RAPSN):c.531+8T>G rs2153311112
NM_005055.5(RAPSN):c.532-17T>C
NM_005055.5(RAPSN):c.532-19C>T
NM_005055.5(RAPSN):c.532-4G>A rs553983766
NM_005055.5(RAPSN):c.532-5T>C rs1296891027
NM_005055.5(RAPSN):c.532-8C>T
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter) rs1015604630
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=) rs1015604630
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs) rs2153309143
NM_005055.5(RAPSN):c.549G>C (p.Leu183=) rs1595899529
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs) rs786200904
NM_005055.5(RAPSN):c.54G>A (p.Gln18=) rs2153311774
NM_005055.5(RAPSN):c.558C>G (p.Pro186=)
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg) rs1219888816
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly) rs121909257
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser) rs779881502
NM_005055.5(RAPSN):c.570A>G (p.Ala190=) rs1437018541
NM_005055.5(RAPSN):c.570A>T (p.Ala190=)
NM_005055.5(RAPSN):c.573G>A (p.Glu191=)
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) rs2076375665
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter) rs1595899478
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
NM_005055.5(RAPSN):c.609G>A (p.Lys203=) rs2153309106
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile) rs752415268
NM_005055.5(RAPSN):c.639C>T (p.Ala213=)
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)
NM_005055.5(RAPSN):c.664C>T (p.Leu222=)
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp) rs2153309064
NM_005055.5(RAPSN):c.669C>T (p.Gly223=) rs1168766907
NM_005055.5(RAPSN):c.66A>C (p.Thr22=)
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup) rs1555142799
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val) rs1565684828
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter) rs2153309050
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
NM_005055.5(RAPSN):c.690+10C>G rs78293924
NM_005055.5(RAPSN):c.690+11G>A
NM_005055.5(RAPSN):c.690+14G>A
NM_005055.5(RAPSN):c.690+18G>A
NM_005055.5(RAPSN):c.691-10del
NM_005055.5(RAPSN):c.691-11C>T
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005055.5(RAPSN):c.691-16C>G
NM_005055.5(RAPSN):c.691-1G>A
NM_005055.5(RAPSN):c.691-20G>A
NM_005055.5(RAPSN):c.691-2_732dup rs2076367688
NM_005055.5(RAPSN):c.691-4G>A
NM_005055.5(RAPSN):c.691-4G>T rs886048388
NM_005055.5(RAPSN):c.691-7C>A rs2153308712
NM_005055.5(RAPSN):c.691-7del
NM_005055.5(RAPSN):c.709C>T (p.Leu237=)
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter) rs2076368388
NM_005055.5(RAPSN):c.714G>A (p.Gln238=) rs2153308678
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro) rs2076367706
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
NM_005055.5(RAPSN):c.735G>A (p.Gln245=)
NM_005055.5(RAPSN):c.738G>T (p.Ala246=) rs889862832
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro) rs1217675127
NM_005055.5(RAPSN):c.744C>T (p.Cys248=) rs780224551
NM_005055.5(RAPSN):c.745C>T (p.Leu249=)
NM_005055.5(RAPSN):c.747G>C (p.Leu249=) rs1398686820
NM_005055.5(RAPSN):c.750C>T (p.Leu250=) rs2153308626
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr) rs2153308622
NM_005055.5(RAPSN):c.75A>G (p.Ala25=)
NM_005055.5(RAPSN):c.765C>A (p.Ile255=) rs1432435738
NM_005055.5(RAPSN):c.768C>T (p.His256=) rs757302008
NM_005055.5(RAPSN):c.76T>C (p.Leu26=) rs202091676
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
NM_005055.5(RAPSN):c.774C>T (p.Ser258=) rs2153308610
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly) rs150207592
NM_005055.5(RAPSN):c.783C>T (p.Asp261=) rs2076367030
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)
NM_005055.5(RAPSN):c.784C>T (p.Leu262=)
NM_005055.5(RAPSN):c.789+11C>G
NM_005055.5(RAPSN):c.789+11C>T
NM_005055.5(RAPSN):c.789+12G>A
NM_005055.5(RAPSN):c.789+17G>T
NM_005055.5(RAPSN):c.789+8C>G
NM_005055.5(RAPSN):c.789_789+15dup rs780882080
NM_005055.5(RAPSN):c.78G>A (p.Leu26=) rs750811979
NM_005055.5(RAPSN):c.790-12C>G
NM_005055.5(RAPSN):c.790-13C>T
NM_005055.5(RAPSN):c.790-15C>A
NM_005055.5(RAPSN):c.790-15C>G rs752816353
NM_005055.5(RAPSN):c.790-15C>T
NM_005055.5(RAPSN):c.790-17C>G
NM_005055.5(RAPSN):c.790-17C>T
NM_005055.5(RAPSN):c.790-19C>A
NM_005055.5(RAPSN):c.790-6C>T rs2076365864
NM_005055.5(RAPSN):c.790-9G>C
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr) rs200695559
NM_005055.5(RAPSN):c.798C>T (p.Phe266=) rs1487536762
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=) rs104894301
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.822C>T (p.Ser274=)
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)
NM_005055.5(RAPSN):c.831C>A (p.Thr277=) rs148078235
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys) rs1418635230
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met) rs755310896
NM_005055.5(RAPSN):c.837C>T (p.Ile279=) rs755310896
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg) rs1262674788
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter) rs1262674788
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu) rs143668632
NM_005055.5(RAPSN):c.846C>T (p.Arg282=) rs1595898465
NM_005055.5(RAPSN):c.847C>T (p.Leu283=) rs761730497
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg) rs1294627986
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter) rs1555142603
NM_005055.5(RAPSN):c.864G>T (p.Ala288=)
NM_005055.5(RAPSN):c.865C>T (p.Leu289=) rs2153308454
NM_005055.5(RAPSN):c.867G>A (p.Leu289=)
NM_005055.5(RAPSN):c.868C>T (p.Leu290=)
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala) rs374604570
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)
NM_005055.5(RAPSN):c.897G>A (p.Arg299=)
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
NM_005055.5(RAPSN):c.903G>T (p.Ala301=)
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
NM_005055.5(RAPSN):c.911_912+1dup rs2153308410
NM_005055.5(RAPSN):c.912+11G>A
NM_005055.5(RAPSN):c.912+15T>C
NM_005055.5(RAPSN):c.912+18C>T
NM_005055.5(RAPSN):c.912+9G>A rs751790521
NM_005055.5(RAPSN):c.912+9G>C
NM_005055.5(RAPSN):c.912+9G>T rs751790521
NM_005055.5(RAPSN):c.912G>A (p.Lys304=) rs1273342588
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.913-4C>T
NM_005055.5(RAPSN):c.913-7del
NM_005055.5(RAPSN):c.913-8C>A rs2153308235
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)
NM_005055.5(RAPSN):c.916C>T (p.Leu306=) rs1262478144
NM_005055.5(RAPSN):c.919G>C (p.Asp307His) rs1565683625
NM_005055.5(RAPSN):c.924C>T (p.Ala308=)
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
NM_005055.5(RAPSN):c.948C>A (p.Ala316=) rs374676714
NM_005055.5(RAPSN):c.966+14C>G
NM_005055.5(RAPSN):c.966+19T>C
NM_005055.5(RAPSN):c.966+1_966+2delinsAG rs2153308170
NM_005055.5(RAPSN):c.966+7C>G rs1595898047
NM_005055.5(RAPSN):c.966+7C>T
NM_005055.5(RAPSN):c.967-19C>G
NM_005055.5(RAPSN):c.967-20T>C
NM_005055.5(RAPSN):c.967-4C>G
NM_005055.5(RAPSN):c.967-5C>A
NM_005055.5(RAPSN):c.967-5C>T rs374686678
NM_005055.5(RAPSN):c.967-6C>A
NM_005055.5(RAPSN):c.967-7G>A
NM_005055.5(RAPSN):c.967-7G>C rs1374385127
NM_005055.5(RAPSN):c.967-7G>T rs1374385127
NM_005055.5(RAPSN):c.967-9G>C
NM_005055.5(RAPSN):c.96G>T (p.Val32=) rs2076432156
NM_005055.5(RAPSN):c.972C>T (p.Ser324=) rs2076338821
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446
NM_005055.5(RAPSN):c.984G>A (p.Leu328=)
NM_005055.5(RAPSN):c.984G>T (p.Leu328=) rs1469910398
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg) rs2076338568
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
NM_005055.5(RAPSN):c.991C>T (p.Leu331=) rs1595896703
NM_005055.5(RAPSN):c.993G>T (p.Leu331=) rs867698000
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg) rs1013180221
NM_005055.5(RAPSN):c.996C>T (p.Ser332=)
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln) rs201947904
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904
NM_005055.5(RAPSN):c.999G>A (p.Glu333=)
NM_005055.5(RAPSN):c.99G>A (p.Leu33=) rs2153311752
NM_005105.5(RBM8A):c.127+19G>A
NM_005105.5(RBM8A):c.127+21dup
NM_005105.5(RBM8A):c.128-17G>C
NM_005105.5(RBM8A):c.128-7C>T rs190827695
NM_005105.5(RBM8A):c.138C>T (p.Ser46=)
NM_005105.5(RBM8A):c.177G>A (p.Gln59=)
NM_005105.5(RBM8A):c.206-13del
NM_005105.5(RBM8A):c.206-14C>G
NM_005105.5(RBM8A):c.206-18C>G
NM_005105.5(RBM8A):c.206-20T>C rs117017431
NM_005105.5(RBM8A):c.255C>T (p.Thr85=)
NM_005105.5(RBM8A):c.279C>T (p.Phe93=)
NM_005105.5(RBM8A):c.336_342+2del rs1648166006
NM_005105.5(RBM8A):c.342+8_342+11del
NM_005105.5(RBM8A):c.343-13T>C
NM_005105.5(RBM8A):c.343-17C>T
NM_005105.5(RBM8A):c.343-19G>C
NM_005105.5(RBM8A):c.345G>A (p.Gly115=)
NM_005105.5(RBM8A):c.404A>G (p.Asn135Ser)
NM_005105.5(RBM8A):c.45C>T (p.Phe15=)
NM_005105.5(RBM8A):c.479+12A>G
NM_005105.5(RBM8A):c.479G>A (p.Arg160Lys) rs2101877556
NM_005105.5(RBM8A):c.480-5C>T
NM_005105.5(RBM8A):c.480-8T>G
NM_005105.5(RBM8A):c.67+11T>C
NM_005105.5(RBM8A):c.67+13G>A
NM_005105.5(RBM8A):c.67+17C>T
NM_005105.5(RBM8A):c.68-15C>T
NM_005105.5(RBM8A):c.68-18T>C
NM_005105.5(RBM8A):c.68-4C>T rs782317229
NM_005105.5(RBM8A):c.6G>C (p.Ala2=)
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=) rs1162384254
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.1062A>G (p.Lys354=)
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)
NM_005236.3(ERCC4):c.1102+14T>C
NM_005236.3(ERCC4):c.1102+20C>T
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) rs2032238318
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
NM_005236.3(ERCC4):c.114G>A (p.Gly38=)
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.1213+8A>G
NM_005236.3(ERCC4):c.1214-10C>A
NM_005236.3(ERCC4):c.1214-8A>G
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly) rs374470560
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=) rs2141606819
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
NM_005236.3(ERCC4):c.129G>A (p.Arg43=)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe) rs1596616623
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) rs2141606968
NM_005236.3(ERCC4):c.132C>T (p.Leu44=) rs1482378244
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
NM_005236.3(ERCC4):c.1347C>G (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.147C>T (p.Leu49=)
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
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.1599A>G (p.Glu533=)
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)
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.1650C>T (p.Pro550=)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.165A>G (p.Pro55=)
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)
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.1698G>A (p.Leu566=) rs2141607987
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)
NM_005236.3(ERCC4):c.178C>T (p.Leu60=) rs2141937412
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) rs1336284412
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
NM_005236.3(ERCC4):c.1811+16T>C
NM_005236.3(ERCC4):c.1811+9T>A
NM_005236.3(ERCC4):c.1811+9T>G rs1235957230
NM_005236.3(ERCC4):c.1812-17T>C rs1399858595
NM_005236.3(ERCC4):c.1812-6A>G
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
NM_005236.3(ERCC4):c.183G>A (p.Val61=) rs1215558892
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.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=) rs954215121
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.1904+7C>T
NM_005236.3(ERCC4):c.1905-20G>C
NM_005236.3(ERCC4):c.1905-4A>G
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.1983A>T (p.Ala661=)
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=) rs2141617128
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.2000C>A (p.Thr667Asn)
NM_005236.3(ERCC4):c.2017+19del
NM_005236.3(ERCC4):c.2018-19A>T
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.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)
NM_005236.3(ERCC4):c.207+13T>A rs759023704
NM_005236.3(ERCC4):c.207+13T>C rs759023704
NM_005236.3(ERCC4):c.207+16C>G
NM_005236.3(ERCC4):c.207+19G>T
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
NM_005236.3(ERCC4):c.208-19C>G
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.208-3T>G
NM_005236.3(ERCC4):c.208-6A>G rs1596617926
NM_005236.3(ERCC4):c.208-7G>T
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)
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.2124C>A (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
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.2169C>T (p.Cys723=) rs2020959
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=) rs1193180379
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) rs756050702
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
NM_005236.3(ERCC4):c.22C>A (p.Arg8=) rs774510191
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) rs774510191
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=) rs765321722
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) rs2032550979
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)
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.2394A>G (p.Leu798=) rs111613748
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=) rs1031792719
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.2478G>A (p.Ala826=) rs1417783312
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.2535T>C (p.Asn845=)
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
NM_005236.3(ERCC4):c.2574G>A (p.Val858=) rs753126294
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.2619C>T (p.Ile873=) 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.2635C>T (p.Leu879=)
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)
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.2670T>C (p.Asn890=)
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) rs2141621448
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro) rs1214498950
NM_005236.3(ERCC4):c.2706C>T (p.His902=)
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
NM_005236.3(ERCC4):c.2724C>G (p.Val908=)
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.303C>T (p.Tyr101=)
NM_005236.3(ERCC4):c.306A>G (p.Thr102=)
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.327G>A (p.Ala109=)
NM_005236.3(ERCC4):c.336G>A (p.Arg112=)
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
NM_005236.3(ERCC4):c.355T>C (p.Leu119=)
NM_005236.3(ERCC4):c.363T>C (p.Asp121=)
NM_005236.3(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser) rs374243778
NM_005236.3(ERCC4):c.381A>G (p.Leu127=)
NM_005236.3(ERCC4):c.388+13A>G rs2078004740
NM_005236.3(ERCC4):c.388+15T>C
NM_005236.3(ERCC4):c.388+20_388+25del
NM_005236.3(ERCC4):c.389-5C>A
NM_005236.3(ERCC4):c.389-8C>G rs1325456652
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
NM_005236.3(ERCC4):c.412A>C (p.Arg138=)
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.3(ERCC4):c.420C>T (p.Ile140=) rs138724289
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
NM_005236.3(ERCC4):c.42G>A (p.Pro14=) rs2141936987
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
NM_005236.3(ERCC4):c.43C>T (p.Leu15=)
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.529C>T (p.His177Tyr)
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
NM_005236.3(ERCC4):c.534G>T (p.Val178=) rs957009045
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
NM_005236.3(ERCC4):c.555T>C (p.Leu185=) rs113129434
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.561G>A (p.Val187=)
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) rs2141944936
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.585-18A>C
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) rs1355878901
NM_005236.3(ERCC4):c.591T>C (p.His197=)
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
NM_005236.3(ERCC4):c.681T>G (p.Thr227=)
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
NM_005236.3(ERCC4):c.68del (p.Val23fs)
NM_005236.3(ERCC4):c.705A>G (p.Ala235=) rs2032105533
NM_005236.3(ERCC4):c.711A>G (p.Leu237=)
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.792+7T>C
NM_005236.3(ERCC4):c.793-17T>C rs2141948343
NM_005236.3(ERCC4):c.793-18A>G
NM_005236.3(ERCC4):c.793-2A>G rs2032155264
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.816T>A (p.Pro272=) rs2141948404
NM_005236.3(ERCC4):c.81C>T (p.Leu27=)
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) rs2141948413
NM_005236.3(ERCC4):c.837C>G (p.Ala279=) rs2032156289
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
NM_005236.3(ERCC4):c.846A>G (p.Lys282=)
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
NM_005236.3(ERCC4):c.871T>C (p.Leu291=)
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
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.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568
NM_005236.3(ERCC4):c.96A>G (p.Leu32=)
NM_005236.3(ERCC4):c.973+17C>T
NM_005236.3(ERCC4):c.973+20A>G
NM_005236.3(ERCC4):c.973+7G>A rs1216362714
NM_005236.3(ERCC4):c.974-20_974-16del rs2141949732
NM_005236.3(ERCC4):c.974-7_974-6inv
NM_005236.3(ERCC4):c.974-8C>T rs1567245872
NM_005236.3(ERCC4):c.981G>A (p.Leu327=)
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
NM_005236.3(ERCC4):c.9A>C (p.Ser3=)
NM_005445.4(SMC3):c.1032G>C (p.Leu344=)
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly)
NM_005445.4(SMC3):c.1050A>G (p.Lys350=)
NM_005445.4(SMC3):c.1091+17C>T
NM_005445.4(SMC3):c.1091+19A>G
NM_005445.4(SMC3):c.1101A>G (p.Gln367=)
NM_005445.4(SMC3):c.1113A>G (p.Glu371=)
NM_005445.4(SMC3):c.1119G>A (p.Thr373=)
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
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+17G>T
NM_005445.4(SMC3):c.131-20A>G
NM_005445.4(SMC3):c.131-3C>T
NM_005445.4(SMC3):c.1338T>C (p.Ala446=)
NM_005445.4(SMC3):c.1393C>T (p.Leu465=)
NM_005445.4(SMC3):c.1407A>G (p.Arg469=)
NM_005445.4(SMC3):c.1409+19G>A
NM_005445.4(SMC3):c.1409+20_1409+21del
NM_005445.4(SMC3):c.1409+8T>C
NM_005445.4(SMC3):c.1410-11_1410-6del
NM_005445.4(SMC3):c.1410-6_1410-3del rs546049291
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
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+11C>T
NM_005445.4(SMC3):c.15+12G>A
NM_005445.4(SMC3):c.15+5_15+12del
NM_005445.4(SMC3):c.15+8C>G
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
NM_005445.4(SMC3):c.1509+16del
NM_005445.4(SMC3):c.1509+4G>C
NM_005445.4(SMC3):c.1509+5G>C
NM_005445.4(SMC3):c.1510-7C>A
NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser)
NM_005445.4(SMC3):c.1575C>T (p.Asn525=)
NM_005445.4(SMC3):c.1584T>C (p.Val528=)
NM_005445.4(SMC3):c.16-16G>A
NM_005445.4(SMC3):c.1644A>G (p.Thr548=)
NM_005445.4(SMC3):c.1670+20A>G
NM_005445.4(SMC3):c.1670+6del
NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr)
NM_005445.4(SMC3):c.1783G>A (p.Val595Ile)
NM_005445.4(SMC3):c.1797C>A (p.Ala599=)
NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys) rs780811321
NM_005445.4(SMC3):c.1803T>C (p.Pro601=)
NM_005445.4(SMC3):c.1812+16A>T
NM_005445.4(SMC3):c.1813-19G>A
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
NM_005445.4(SMC3):c.1901G>A (p.Arg634His) rs2134740210
NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro) rs1590563617
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.1963+16T>C
NM_005445.4(SMC3):c.1964-13G>A
NM_005445.4(SMC3):c.1964-15_1964-14del
NM_005445.4(SMC3):c.1964-17A>G
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.199-15T>G
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.2099T>C (p.Leu700Pro) rs2134745404
NM_005445.4(SMC3):c.2102G>A (p.Arg701His)
NM_005445.4(SMC3):c.2116+10T>A
NM_005445.4(SMC3):c.2117-15C>T
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala) rs2134747764
NM_005445.4(SMC3):c.2226A>G (p.Leu742=)
NM_005445.4(SMC3):c.2268+5G>C
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
NM_005445.4(SMC3):c.2428-6T>A
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)
NM_005445.4(SMC3):c.2535+11G>T
NM_005445.4(SMC3):c.2535+13T>G
NM_005445.4(SMC3):c.2535+15_2535+16insG
NM_005445.4(SMC3):c.2535+9G>T
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
NM_005445.4(SMC3):c.2645-13C>T
NM_005445.4(SMC3):c.2645-17G>T
NM_005445.4(SMC3):c.2645-8del
NM_005445.4(SMC3):c.264G>T (p.Arg88=)
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly)
NM_005445.4(SMC3):c.2658C>T (p.Ser886=) rs2134752535
NM_005445.4(SMC3):c.2670A>G (p.Thr890=)
NM_005445.4(SMC3):c.2688G>A (p.Glu896=)
NM_005445.4(SMC3):c.270+17_270+18del
NM_005445.4(SMC3):c.270+18del
NM_005445.4(SMC3):c.270+18dup rs756099489
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
NM_005445.4(SMC3):c.271-12A>G
NM_005445.4(SMC3):c.271-6T>G
NM_005445.4(SMC3):c.2733T>C (p.His911=)
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu)
NM_005445.4(SMC3):c.273C>T (p.Ile91=)
NM_005445.4(SMC3):c.2802G>A (p.Lys934=)
NM_005445.4(SMC3):c.2835A>G (p.Glu945=)
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.2893-15A>G
NM_005445.4(SMC3):c.2893-17A>G
NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)
NM_005445.4(SMC3):c.2943T>C (p.His981=)
NM_005445.4(SMC3):c.2982C>G (p.Ser994=)
NM_005445.4(SMC3):c.3072G>T (p.Arg1024=)
NM_005445.4(SMC3):c.309T>C (p.Gly103=)
NM_005445.4(SMC3):c.3105+15G>A
NM_005445.4(SMC3):c.3105+3A>T
NM_005445.4(SMC3):c.3106-10T>C
NM_005445.4(SMC3):c.3106-8_3106-4del
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.3252A>G (p.Gln1084=)
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
NM_005445.4(SMC3):c.3298-17_3298-13del
NM_005445.4(SMC3):c.3298-3dup rs750133429
NM_005445.4(SMC3):c.33T>C (p.Phe11=)
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.4(SMC3):c.3408G>A (p.Pro1136=)
NM_005445.4(SMC3):c.3411T>A (p.Ala1137=)
NM_005445.4(SMC3):c.3411T>C (p.Ala1137=)
NM_005445.4(SMC3):c.3475+12G>A
NM_005445.4(SMC3):c.3476-18A>G
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly) rs1861413861
NM_005445.4(SMC3):c.350+12T>C
NM_005445.4(SMC3):c.350+19T>C
NM_005445.4(SMC3):c.350+21del
NM_005445.4(SMC3):c.350+21dup
NM_005445.4(SMC3):c.351-13T>C
NM_005445.4(SMC3):c.351-4A>G
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
NM_005445.4(SMC3):c.3528G>A (p.Arg1176=)
NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg)
NM_005445.4(SMC3):c.3534A>G (p.Glu1178=)
NM_005445.4(SMC3):c.3549T>C (p.Ala1183=)
NM_005445.4(SMC3):c.3582+18T>C
NM_005445.4(SMC3):c.3582+19_3582+24del rs758854216
NM_005445.4(SMC3):c.3583-19T>C
NM_005445.4(SMC3):c.3600G>T (p.Val1200=)
NM_005445.4(SMC3):c.363G>A (p.Val121=)
NM_005445.4(SMC3):c.381C>T (p.Ser127=)
NM_005445.4(SMC3):c.384T>C (p.Ala128=)
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+19C>A
NM_005445.4(SMC3):c.429+19C>T
NM_005445.4(SMC3):c.429+9A>G
NM_005445.4(SMC3):c.430-18T>A
NM_005445.4(SMC3):c.430-19A>T
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.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.548-8C>A
NM_005445.4(SMC3):c.548-8C>G
NM_005445.4(SMC3):c.577T>C (p.Leu193=)
NM_005445.4(SMC3):c.588T>C (p.Ile196=)
NM_005445.4(SMC3):c.624A>C (p.Glu208Asp)
NM_005445.4(SMC3):c.661C>T (p.Arg221Ter) rs1564789897
NM_005445.4(SMC3):c.69C>T (p.Phe23=)
NM_005445.4(SMC3):c.723+20C>T
NM_005445.4(SMC3):c.723+6A>G
NM_005445.4(SMC3):c.724-15T>G
NM_005445.4(SMC3):c.724-6dup rs11380915
NM_005445.4(SMC3):c.786T>A (p.Asp262Glu)
NM_005445.4(SMC3):c.804+14C>T
NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)
NM_005445.4(SMC3):c.909T>G (p.Thr303=)
NM_005445.4(SMC3):c.913T>G (p.Leu305Val)
NM_005445.4(SMC3):c.92-18del
NM_005445.4(SMC3):c.945A>G (p.Glu315=)
NM_005445.4(SMC3):c.969+14C>T
NM_005445.4(SMC3):c.969+16A>G rs2134726700
NM_005445.4(SMC3):c.969+17A>G
NM_005445.4(SMC3):c.970-4A>G
NM_005445.4(SMC3):c.993G>C (p.Gln331His)
NM_005592.4(MUSK):c.1005T>A (p.Val335=)
NM_005592.4(MUSK):c.1024G>A (p.Ala342Thr) rs2077509392
NM_005592.4(MUSK):c.1036G>C (p.Glu346Gln)
NM_005592.4(MUSK):c.1038G>C (p.Glu346Asp) rs764142979
NM_005592.4(MUSK):c.1044A>G (p.Gln348=)
NM_005592.4(MUSK):c.1052T>C (p.Leu351Pro)
NM_005592.4(MUSK):c.1056C>T (p.Val352=)
NM_005592.4(MUSK):c.1065C>G (p.Ala355=)
NM_005592.4(MUSK):c.108A>G (p.Thr36=)
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs)
NM_005592.4(MUSK):c.1098C>T (p.Cys366=)
NM_005592.4(MUSK):c.1099C>G (p.Arg367Gly) rs201014623
NM_005592.4(MUSK):c.1100G>C (p.Arg367Pro) rs1038479586
NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)
NM_005592.4(MUSK):c.1131C>T (p.His377=)
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
NM_005592.4(MUSK):c.117C>T (p.Ala39=)
NM_005592.4(MUSK):c.1184+10C>G rs2131956685
NM_005592.4(MUSK):c.1184+15A>C
NM_005592.4(MUSK):c.1184+20T>C
NM_005592.4(MUSK):c.1184+2T>C
NM_005592.4(MUSK):c.1184G>T (p.Arg395Ile) rs2131956652
NM_005592.4(MUSK):c.1185-12A>G
NM_005592.4(MUSK):c.1185-14del
NM_005592.4(MUSK):c.1185-15C>T
NM_005592.4(MUSK):c.1185-17T>A
NM_005592.4(MUSK):c.1185-19T>A
NM_005592.4(MUSK):c.1185-19T>C
NM_005592.4(MUSK):c.1185-2A>G
NM_005592.4(MUSK):c.1185-7A>G
NM_005592.4(MUSK):c.1185-8T>G rs371124725
NM_005592.4(MUSK):c.1185-9C>T
NM_005592.4(MUSK):c.1197G>A (p.Leu399=)
NM_005592.4(MUSK):c.119T>C (p.Leu40Ser)
NM_005592.4(MUSK):c.1203A>G (p.Val401=) rs1356218784
NM_005592.4(MUSK):c.1212C>A (p.Leu404=)
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)
NM_005592.4(MUSK):c.1218C>T (p.Cys406=) rs368395413
NM_005592.4(MUSK):c.1220C>T (p.Ala407Val)
NM_005592.4(MUSK):c.1224A>G (p.Lys408=) rs1588025437
NM_005592.4(MUSK):c.1233G>A (p.Leu411=)
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
NM_005592.4(MUSK):c.1238T>C (p.Met413Thr) rs930182416
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile) rs538655454
NM_005592.4(MUSK):c.1266C>T (p.Tyr422=)
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys) rs368044285
NM_005592.4(MUSK):c.1287G>C (p.Leu429=)
NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)
NM_005592.4(MUSK):c.129A>T (p.Glu43Asp) rs2131656584
NM_005592.4(MUSK):c.12C>A (p.Leu4=) rs374456998
NM_005592.4(MUSK):c.12C>G (p.Leu4=)
NM_005592.4(MUSK):c.12C>T (p.Leu4=) rs374456998
NM_005592.4(MUSK):c.1324T>A (p.Trp442Arg)
NM_005592.4(MUSK):c.132G>A (p.Val44=)
NM_005592.4(MUSK):c.1339T>C (p.Cys447Arg)
NM_005592.4(MUSK):c.1343C>A (p.Ala448Asp)
NM_005592.4(MUSK):c.1360+11G>C
NM_005592.4(MUSK):c.1360+13T>C
NM_005592.4(MUSK):c.1360+14C>T
NM_005592.4(MUSK):c.1360+18C>T
NM_005592.4(MUSK):c.1360+1G>A
NM_005592.4(MUSK):c.1360+20A>G
NM_005592.4(MUSK):c.1360+7C>G
NM_005592.4(MUSK):c.1360+7_1360+8del rs780843719
NM_005592.4(MUSK):c.1361-13C>A
NM_005592.4(MUSK):c.1361-7C>T
NM_005592.4(MUSK):c.1377C>T (p.Asn459=)
NM_005592.4(MUSK):c.1384+12T>C
NM_005592.4(MUSK):c.1384+14T>C
NM_005592.4(MUSK):c.1384+20C>G
NM_005592.4(MUSK):c.1384+5G>A rs536529195
NM_005592.4(MUSK):c.1384+9T>C
NM_005592.4(MUSK):c.1384del (p.Thr462fs)
NM_005592.4(MUSK):c.1385-12C>A
NM_005592.4(MUSK):c.1386A>G (p.Thr462=)
NM_005592.4(MUSK):c.13G>A (p.Val5Ile) rs765874906
NM_005592.4(MUSK):c.1401G>A (p.Thr467=)
NM_005592.4(MUSK):c.1401G>T (p.Thr467=) rs761610023
NM_005592.4(MUSK):c.1416T>C (p.Ser472=)
NM_005592.4(MUSK):c.141C>T (p.Phe47=)
NM_005592.4(MUSK):c.1420G>A (p.Asp474Asn)
NM_005592.4(MUSK):c.1434G>A (p.Leu478=)
NM_005592.4(MUSK):c.1440CTC[2] (p.Ser485del)
NM_005592.4(MUSK):c.1446C>G (p.Ser482=) rs754903785
NM_005592.4(MUSK):c.1452T>C (p.Ser484=) rs1588037471
NM_005592.4(MUSK):c.1455C>T (p.Ser485=)
NM_005592.4(MUSK):c.1461T>C (p.Ser487=)
NM_005592.4(MUSK):c.1462G>T (p.Val488Phe)
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)
NM_005592.4(MUSK):c.1472C>T (p.Thr491Ile) rs2132023110
NM_005592.4(MUSK):c.1473A>G (p.Thr491=)
NM_005592.4(MUSK):c.147T>C (p.Cys49=)
NM_005592.4(MUSK):c.1490T>A (p.Ile497Lys)
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr) rs886043719
NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro)
NM_005592.4(MUSK):c.1543C>G (p.Leu515Val) rs1554755295
NM_005592.4(MUSK):c.1545C>T (p.Leu515=) rs868435163
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)
NM_005592.4(MUSK):c.1556GAA[2] (p.Arg521del) rs774582687
NM_005592.4(MUSK):c.1586+12G>A
NM_005592.4(MUSK):c.1586+15dup
NM_005592.4(MUSK):c.1586+16C>T
NM_005592.4(MUSK):c.1586+1G>A
NM_005592.4(MUSK):c.1586+7T>C
NM_005592.4(MUSK):c.1586+8T>C
NM_005592.4(MUSK):c.1587-14T>C
NM_005592.4(MUSK):c.1587-16C>T
NM_005592.4(MUSK):c.1587-5T>G
NM_005592.4(MUSK):c.1587-8G>C rs980952719
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)
NM_005592.4(MUSK):c.1599A>G (p.Ala533=)
NM_005592.4(MUSK):c.1605C>A (p.Thr535=)
NM_005592.4(MUSK):c.1605C>T (p.Thr535=) rs760645831
NM_005592.4(MUSK):c.1606C>G (p.Leu536Val)
NM_005592.4(MUSK):c.1611C>T (p.Thr537=)
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg) rs928134595
NM_005592.4(MUSK):c.1615C>T (p.Leu539=)
NM_005592.4(MUSK):c.1623T>C (p.Ser541=)
NM_005592.4(MUSK):c.1626del (p.Glu542fs) rs2077841802
NM_005592.4(MUSK):c.162C>T (p.Tyr54=)
NM_005592.4(MUSK):c.1638T>C (p.Asp546=)
NM_005592.4(MUSK):c.165C>T (p.Pro55=) rs766600402
NM_005592.4(MUSK):c.166dup (p.Gln56fs)
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg) rs369745938
NM_005592.4(MUSK):c.1686C>A (p.Asn562Lys)
NM_005592.4(MUSK):c.1689C>T (p.Pro563=) rs376052538
NM_005592.4(MUSK):c.1693T>C (p.Leu565=) rs200787064
NM_005592.4(MUSK):c.1698C>G (p.Leu566=)
NM_005592.4(MUSK):c.1704G>T (p.Leu568=) rs2077843780
NM_005592.4(MUSK):c.1706A>T (p.Glu569Val) rs2077843836
NM_005592.4(MUSK):c.1707G>A (p.Glu569=)
NM_005592.4(MUSK):c.1711C>A (p.Pro571Thr)
NM_005592.4(MUSK):c.1722C>T (p.Asn574=)
NM_005592.4(MUSK):c.1734G>A (p.Val578=)
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter) rs752798426
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
NM_005592.4(MUSK):c.1743C>T (p.Ile581=)
NM_005592.4(MUSK):c.1749G>A (p.Glu583=)
NM_005592.4(MUSK):c.174G>A (p.Glu58=)
NM_005592.4(MUSK):c.1751G>A (p.Gly584Glu)
NM_005592.4(MUSK):c.1753G>C (p.Ala585Pro) rs779231840
NM_005592.4(MUSK):c.1778+18A>G
NM_005592.4(MUSK):c.1778+19A>C
NM_005592.4(MUSK):c.1778+1G>T rs2132026515
NM_005592.4(MUSK):c.1778+25del
NM_005592.4(MUSK):c.1778+25dup rs200937545
NM_005592.4(MUSK):c.1778+7T>C rs1021982098
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
NM_005592.4(MUSK):c.1779-16T>C
NM_005592.4(MUSK):c.1779-20T>C
NM_005592.4(MUSK):c.1784C>G (p.Pro595Arg) rs2077898016
NM_005592.4(MUSK):c.1788C>T (p.Gly596=)
NM_005592.4(MUSK):c.1789T>C (p.Leu597=)
NM_005592.4(MUSK):c.1795C>T (p.Pro599Ser) rs2077898173
NM_005592.4(MUSK):c.1804C>T (p.Pro602Ser) rs565780053
NM_005592.4(MUSK):c.1813A>T (p.Met605Leu) rs758777089
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile) rs766640370
NM_005592.4(MUSK):c.1818G>A (p.Val606=) rs2132034695
NM_005592.4(MUSK):c.1826del (p.Lys609fs)
NM_005592.4(MUSK):c.1833C>A (p.Leu611=)
NM_005592.4(MUSK):c.1840del (p.Glu614fs)
NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala)
NM_005592.4(MUSK):c.1847C>G (p.Ser616Trp) rs181652070
NM_005592.4(MUSK):c.1848G>A (p.Ser616=)
NM_005592.4(MUSK):c.1853A>G (p.Asp618Gly)
NM_005592.4(MUSK):c.1856T>C (p.Met619Thr) rs755642035
NM_005592.4(MUSK):c.1865A>T (p.Asp622Val) rs1292312575
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys) rs2077900685
NM_005592.4(MUSK):c.1896A>T (p.Glu632Asp)
NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser) rs1161007370
NM_005592.4(MUSK):c.1906C>A (p.Pro636Thr)
NM_005592.4(MUSK):c.1912A>C (p.Ile638Leu)
NM_005592.4(MUSK):c.1927+12C>A
NM_005592.4(MUSK):c.1927+17G>C
NM_005592.4(MUSK):c.1927+19G>A
NM_005592.4(MUSK):c.1927+8A>C
NM_005592.4(MUSK):c.1927+9dup rs555725730
NM_005592.4(MUSK):c.1928-14T>C
NM_005592.4(MUSK):c.1928-14T>G
NM_005592.4(MUSK):c.1928-20G>T
NM_005592.4(MUSK):c.1928-4C>T
NM_005592.4(MUSK):c.1928-8G>C
NM_005592.4(MUSK):c.1930G>C (p.Val644Leu) rs2132065378
NM_005592.4(MUSK):c.1965T>C (p.Phe655=)
NM_005592.4(MUSK):c.1980T>C (p.Tyr660=)
NM_005592.4(MUSK):c.2007C>T (p.Ser669=)
NM_005592.4(MUSK):c.2010del (p.Met670fs)
NM_005592.4(MUSK):c.2013C>G (p.Ser671=) rs1564300316
NM_005592.4(MUSK):c.2013C>T (p.Ser671=) rs1564300316
NM_005592.4(MUSK):c.2021_2022dup (p.Val675fs)
NM_005592.4(MUSK):c.2022C>T (p.Thr674=) rs772683882
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
NM_005592.4(MUSK):c.2031C>T (p.Ser677=)
NM_005592.4(MUSK):c.2034_2035del (p.His680fs)
NM_005592.4(MUSK):c.2058G>A (p.Arg686=) rs2132066129
NM_005592.4(MUSK):c.206+12A>T
NM_005592.4(MUSK):c.206+19_206+23del
NM_005592.4(MUSK):c.206+20A>T
NM_005592.4(MUSK):c.206+2T>C
NM_005592.4(MUSK):c.2065G>A (p.Val689Ile)
NM_005592.4(MUSK):c.207-11G>A
NM_005592.4(MUSK):c.207-11G>C
NM_005592.4(MUSK):c.207-16T>C
NM_005592.4(MUSK):c.207-1G>A
NM_005592.4(MUSK):c.2079G>C (p.Gly693=)
NM_005592.4(MUSK):c.207A>T (p.Lys69Asn) rs2076206381
NM_005592.4(MUSK):c.2082C>G (p.Pro694=)
NM_005592.4(MUSK):c.2082C>T (p.Pro694=) rs201616041
NM_005592.4(MUSK):c.2088C>A (p.Pro696=) rs751434801
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
NM_005592.4(MUSK):c.2103G>A (p.Glu701=)
NM_005592.4(MUSK):c.210C>A (p.Leu70=)
NM_005592.4(MUSK):c.2112C>T (p.Cys704=)
NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)
NM_005592.4(MUSK):c.2125G>A (p.Val709Met) rs2132066572
NM_005592.4(MUSK):c.2132C>G (p.Ala711Gly) rs758510906
NM_005592.4(MUSK):c.2136C>T (p.Gly712=)
NM_005592.4(MUSK):c.2155C>T (p.Arg719Cys) rs769211968
NM_005592.4(MUSK):c.218C>T (p.Thr73Ile) rs750101214
NM_005592.4(MUSK):c.2192del (p.Cys731fs)
NM_005592.4(MUSK):c.2196G>A (p.Leu732=)
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys) rs770373727
NM_005592.4(MUSK):c.2208C>T (p.Asn736=)
NM_005592.4(MUSK):c.2213T>C (p.Val738Ala)
NM_005592.4(MUSK):c.2226C>T (p.Ala742=)
NM_005592.4(MUSK):c.222G>C (p.Arg74=)
NM_005592.4(MUSK):c.2249T>A (p.Ile750Asn) rs781506865
NM_005592.4(MUSK):c.2256A>T (p.Ser752=)
NM_005592.4(MUSK):c.2260G>A (p.Asp754Asn) rs2078078707
NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu)
NM_005592.4(MUSK):c.2263_2268del (p.Tyr755_Tyr756del) rs1588054209
NM_005592.4(MUSK):c.2274T>G (p.Ala758=)
NM_005592.4(MUSK):c.2277T>C (p.Asn759=) rs2132067450
NM_005592.4(MUSK):c.2289T>A (p.Ala763=)
NM_005592.4(MUSK):c.228C>T (p.Ser76=) rs768514590
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211
NM_005592.4(MUSK):c.2292C>A (p.Ile764=)
NM_005592.4(MUSK):c.2292C>T (p.Ile764=) rs560916681
NM_005592.4(MUSK):c.2314G>A (p.Glu772Lys) rs2132067786
NM_005592.4(MUSK):c.232C>A (p.Arg78=) rs747987063
NM_005592.4(MUSK):c.234G>A (p.Arg78=)
NM_005592.4(MUSK):c.2350G>A (p.Asp784Asn) rs2132067949
NM_005592.4(MUSK):c.2352T>A (p.Asp784Glu)
NM_005592.4(MUSK):c.2355G>T (p.Val785=)
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)
NM_005592.4(MUSK):c.2367C>T (p.Gly789=)
NM_005592.4(MUSK):c.2382G>A (p.Glu794=)
NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)
NM_005592.4(MUSK):c.2398C>T (p.Leu800=) rs1303813392
NM_005592.4(MUSK):c.240T>C (p.Asn80=)
NM_005592.4(MUSK):c.2411A>G (p.Tyr804Cys) rs533353279
NM_005592.4(MUSK):c.2423A>G (p.His808Arg) rs2078084308
NM_005592.4(MUSK):c.243G>T (p.Gly81=) rs1587897093
NM_005592.4(MUSK):c.2440T>G (p.Tyr814Asp) rs2078084758
NM_005592.4(MUSK):c.2443G>A (p.Val815Met) rs551520537
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu) rs551520537
NM_005592.4(MUSK):c.2447G>T (p.Arg816Leu)
NM_005592.4(MUSK):c.2451T>C (p.Asp817=)
NM_005592.4(MUSK):c.2457C>T (p.Asn819=)
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe) rs2078085499
NM_005592.4(MUSK):c.2463C>T (p.Leu821=)
NM_005592.4(MUSK):c.2481C>T (p.Cys827=)
NM_005592.4(MUSK):c.2485G>A (p.Val829Met) rs578430
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005592.4(MUSK):c.2493G>A (p.Leu831=)
NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)
NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro) rs2078086619
NM_005592.4(MUSK):c.2511A>G (p.Leu837=) rs1447190013
NM_005592.4(MUSK):c.2517G>C (p.Trp839Cys) rs1011593420
NM_005592.4(MUSK):c.252C>G (p.Leu84=)
NM_005592.4(MUSK):c.253A>G (p.Thr85Ala) rs2131669584
NM_005592.4(MUSK):c.255C>T (p.Thr85=)
NM_005592.4(MUSK):c.259C>G (p.Leu87Val) rs1198739112
NM_005592.4(MUSK):c.263G>A (p.Ser88Asn)
NM_005592.4(MUSK):c.276T>C (p.Ser92=)
NM_005592.4(MUSK):c.282T>C (p.Asp94=)
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)
NM_005592.4(MUSK):c.300G>C (p.Thr100=) rs180928221
NM_005592.4(MUSK):c.309T>C (p.Asn103=)
NM_005592.4(MUSK):c.30A>G (p.Val10=)
NM_005592.4(MUSK):c.315G>C (p.Val105=)
NM_005592.4(MUSK):c.31_34del (p.His11fs)
NM_005592.4(MUSK):c.33T>C (p.His11=)
NM_005592.4(MUSK):c.342C>A (p.Ala114=)
NM_005592.4(MUSK):c.348A>C (p.Gln116His) rs2131670048
NM_005592.4(MUSK):c.351G>T (p.Val117=)
NM_005592.4(MUSK):c.358+17T>C
NM_005592.4(MUSK):c.358+18T>C
NM_005592.4(MUSK):c.358+19C>A
NM_005592.4(MUSK):c.358+20G>C
NM_005592.4(MUSK):c.358+9G>A
NM_005592.4(MUSK):c.359-16T>G
NM_005592.4(MUSK):c.359-7T>A
NM_005592.4(MUSK):c.360A>C (p.Lys120Asn) rs1318631379
NM_005592.4(MUSK):c.360A>G (p.Lys120=)
NM_005592.4(MUSK):c.361C>A (p.Pro121Thr) rs760483928
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
NM_005592.4(MUSK):c.374G>A (p.Arg125His) rs375737188
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005592.4(MUSK):c.375T>C (p.Arg125=) rs2131713591
NM_005592.4(MUSK):c.402_403delinsAA (p.Gly135Arg) rs2076418979
NM_005592.4(MUSK):c.417C>G (p.Val139=)
NM_005592.4(MUSK):c.433A>G (p.Met145Val) rs748144400
NM_005592.4(MUSK):c.444C>T (p.Pro148=)
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)
NM_005592.4(MUSK):c.471A>G (p.Gly157=)
NM_005592.4(MUSK):c.474_475delinsAC (p.Asp158_Ser159delinsGluArg) rs1587917824
NM_005592.4(MUSK):c.479C>T (p.Pro160Leu) rs1308383168
NM_005592.4(MUSK):c.484A>C (p.Arg162=)
NM_005592.4(MUSK):c.486+16G>A
NM_005592.4(MUSK):c.486+1G>C rs1204788520
NM_005592.4(MUSK):c.486+22del
NM_005592.4(MUSK):c.487-17G>A
NM_005592.4(MUSK):c.487-18C>T
NM_005592.4(MUSK):c.487-9C>T
NM_005592.4(MUSK):c.494C>T (p.Ser165Phe) rs1349731741
NM_005592.4(MUSK):c.496C>A (p.Arg166=)
NM_005592.4(MUSK):c.503C>T (p.Ala168Val)
NM_005592.4(MUSK):c.509T>A (p.Leu170His) rs1464415453
NM_005592.4(MUSK):c.513A>G (p.Glu171=)
NM_005592.4(MUSK):c.535A>T (p.Asn179Tyr) rs1554738557
NM_005592.4(MUSK):c.545dup (p.Glu183fs)
NM_005592.4(MUSK):c.546G>C (p.Lys182Asn) rs1207568075
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
NM_005592.4(MUSK):c.573G>A (p.Val191=)
NM_005592.4(MUSK):c.581dup (p.Asn194fs) rs1395885868
NM_005592.4(MUSK):c.582del (p.Asn194fs) rs2131720596
NM_005592.4(MUSK):c.588C>T (p.Leu196=)
NM_005592.4(MUSK):c.589G>A (p.Gly197Arg) rs768273510
NM_005592.4(MUSK):c.597A>G (p.Ala199=)
NM_005592.4(MUSK):c.600T>C (p.Tyr200=)
NM_005592.4(MUSK):c.601T>G (p.Ser201Ala)
NM_005592.4(MUSK):c.609G>A (p.Val203=) rs762882154
NM_005592.4(MUSK):c.617T>A (p.Leu206Gln)
NM_005592.4(MUSK):c.628+11G>A
NM_005592.4(MUSK):c.629-10T>C rs753538572
NM_005592.4(MUSK):c.629-16del
NM_005592.4(MUSK):c.629-18C>T
NM_005592.4(MUSK):c.629-6T>C
NM_005592.4(MUSK):c.629-7C>T
NM_005592.4(MUSK):c.63T>C (p.Thr21=)
NM_005592.4(MUSK):c.646C>A (p.Arg216=)
NM_005592.4(MUSK):c.647G>T (p.Arg216Leu) rs188464904
NM_005592.4(MUSK):c.648G>C (p.Arg216=)
NM_005592.4(MUSK):c.665A>T (p.Asn222Ile) rs55826142
NM_005592.4(MUSK):c.674T>A (p.Phe225Tyr)
NM_005592.4(MUSK):c.675T>C (p.Phe225=)
NM_005592.4(MUSK):c.699T>C (p.Cys233=)
NM_005592.4(MUSK):c.703G>A (p.Ala235Thr)
NM_005592.4(MUSK):c.708A>G (p.Thr236=)
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser) rs1564253296
NM_005592.4(MUSK):c.726C>A (p.Thr242=)
NM_005592.4(MUSK):c.738T>A (p.Ile246=)
NM_005592.4(MUSK):c.741A>C (p.Glu247Asp) rs2077002366
NM_005592.4(MUSK):c.753+11T>C
NM_005592.4(MUSK):c.753+15T>C
NM_005592.4(MUSK):c.753+20G>A
NM_005592.4(MUSK):c.753+5G>A rs2077002564
NM_005592.4(MUSK):c.753+8T>C
NM_005592.4(MUSK):c.754-1G>T
NM_005592.4(MUSK):c.754-2A>G rs1587986079
NM_005592.4(MUSK):c.754-4T>C
NM_005592.4(MUSK):c.754-5G>C rs991886956
NM_005592.4(MUSK):c.754-6T>G
NM_005592.4(MUSK):c.754-9C>T
NM_005592.4(MUSK):c.757TCT[3] (p.Ser254dup) rs1287375718
NM_005592.4(MUSK):c.759T>C (p.Ser253=)
NM_005592.4(MUSK):c.762T>A (p.Ser254=) rs2077190189
NM_005592.4(MUSK):c.765G>A (p.Gly255=)
NM_005592.4(MUSK):c.768C>T (p.Ser256=)
NM_005592.4(MUSK):c.778A>T (p.Ser260Cys)
NM_005592.4(MUSK):c.780T>C (p.Ser260=) rs886063353
NM_005592.4(MUSK):c.79+14A>G
NM_005592.4(MUSK):c.79+15T>C
NM_005592.4(MUSK):c.79+16C>T
NM_005592.4(MUSK):c.79+17G>A
NM_005592.4(MUSK):c.79+20T>C
NM_005592.4(MUSK):c.79+7T>C
NM_005592.4(MUSK):c.790C>A (p.Arg264=)
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)
NM_005592.4(MUSK):c.795G>A (p.Val265=)
NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
NM_005592.4(MUSK):c.80-15C>A
NM_005592.4(MUSK):c.80-19A>T
NM_005592.4(MUSK):c.80-7C>A
NM_005592.4(MUSK):c.80-7_80-3del
NM_005592.4(MUSK):c.80-9T>C
NM_005592.4(MUSK):c.804A>C (p.Ser268=)
NM_005592.4(MUSK):c.807A>G (p.Arg269=)
NM_005592.4(MUSK):c.81_84del (p.Pro28fs)
NM_005592.4(MUSK):c.831A>G (p.Pro277=)
NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
NM_005592.4(MUSK):c.843A>C (p.Thr281=)
NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
NM_005592.4(MUSK):c.848T>C (p.Ile283Thr) rs2077193041
NM_005592.4(MUSK):c.855C>G (p.Thr285=)
NM_005592.4(MUSK):c.858T>C (p.Asn286=)
NM_005592.4(MUSK):c.861G>A (p.Lys287=)
NM_005592.4(MUSK):c.864T>C (p.His288=)
NM_005592.4(MUSK):c.868del (p.Glu290fs)
NM_005592.4(MUSK):c.879T>C (p.Ser293=)
NM_005592.4(MUSK):c.882T>A (p.Thr294=)
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn) rs1554749322
NM_005592.4(MUSK):c.899C>T (p.Thr300Ile) rs1554749322
NM_005592.4(MUSK):c.900C>T (p.Thr300=)
NM_005592.4(MUSK):c.90C>T (p.Ile30=)
NM_005592.4(MUSK):c.913+10C>T
NM_005592.4(MUSK):c.913+11C>T
NM_005592.4(MUSK):c.913+13T>C
NM_005592.4(MUSK):c.913+2T>C
NM_005592.4(MUSK):c.913+9C>T
NM_005592.4(MUSK):c.914-10C>A
NM_005592.4(MUSK):c.914-5A>G
NM_005592.4(MUSK):c.916T>G (p.Trp306Gly) rs1319203200
NM_005592.4(MUSK):c.920+10T>C rs781462535
NM_005592.4(MUSK):c.920+11G>A
NM_005592.4(MUSK):c.920+11_920+12del
NM_005592.4(MUSK):c.920+1G>A
NM_005592.4(MUSK):c.920+20del
NM_005592.4(MUSK):c.920+5G>C
NM_005592.4(MUSK):c.920+9C>T rs2131931808
NM_005592.4(MUSK):c.921-18_921-16del
NM_005592.4(MUSK):c.921-7C>T rs2131955302
NM_005592.4(MUSK):c.935A>T (p.Asp312Val) rs1362784498
NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn) rs2131955443
NM_005592.4(MUSK):c.946T>C (p.Tyr316His) rs757775674
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
NM_005592.4(MUSK):c.954C>A (p.Ala318=) rs968145791
NM_005592.4(MUSK):c.954C>G (p.Ala318=) rs968145791
NM_005592.4(MUSK):c.964G>A (p.Gly322Arg) rs1449532775
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala) rs2131955587
NM_005592.4(MUSK):c.990A>G (p.Ala330=) rs1588014706
NM_006147.3(IRF6):c.-313T>A rs34743335
NM_006147.4(IRF6):c.1045G>T (p.Glu349Ter) rs2102536764
NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser) rs1224922793
NM_006147.4(IRF6):c.1053C>A (p.Phe351Leu)
NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg) rs1553247744
NM_006147.4(IRF6):c.1059C>T (p.Ser353=)
NM_006147.4(IRF6):c.1060+1G>A rs781506407
NM_006147.4(IRF6):c.1061-10C>G
NM_006147.4(IRF6):c.1061-1G>T
NM_006147.4(IRF6):c.1061-7T>C
NM_006147.4(IRF6):c.1089del (p.Ile363fs)
NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs) rs2077940243
NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) rs2077857680
NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser) rs2077857559
NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)
NM_006147.4(IRF6):c.1195del (p.Ala399fs) rs1553247602
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) rs28942095
NM_006147.4(IRF6):c.120G>T (p.Trp40Cys) rs1553248635
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) rs769068305
NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) rs1553247595
NM_006147.4(IRF6):c.1239C>A (p.Ser413=)
NM_006147.4(IRF6):c.1247G>A (p.Ser416Asn)
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser) rs1553247592
NM_006147.4(IRF6):c.1270T>G (p.Ser424Ala) rs2077848377
NM_006147.4(IRF6):c.1275C>T (p.Thr425=)
NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs) rs1558038218
NM_006147.4(IRF6):c.1315C>T (p.Leu439=) rs1286939391
NM_006147.4(IRF6):c.133del (p.Arg45fs) rs1571986293
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
NM_006147.4(IRF6):c.1368del (p.Ser457fs) rs1553247577
NM_006147.4(IRF6):c.1386del (p.Ala463fs)
NM_006147.4(IRF6):c.1398C>T (p.Pro466=)
NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg) rs1195873569
NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) rs397515434
NM_006147.4(IRF6):c.169T>C (p.Phe57Leu) rs2077939791
NM_006147.4(IRF6):c.174+2dup rs1558042839
NM_006147.4(IRF6):c.174G>A (p.Lys58=) rs2077939771
NM_006147.4(IRF6):c.175G>T (p.Ala59Ser)
NM_006147.4(IRF6):c.176C>T (p.Ala59Val) rs1571983440
NM_006147.4(IRF6):c.179G>A (p.Trp60Ter) rs2077902428
NM_006147.4(IRF6):c.180G>A (p.Trp60Ter) rs2077902411
NM_006147.4(IRF6):c.199_213dup (p.Tyr67_Val71dup) rs2077902226
NM_006147.4(IRF6):c.226C>T (p.Pro76Ser) rs886039388
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu) rs1553248271
NM_006147.4(IRF6):c.235T>C (p.Trp79Arg)
NM_006147.4(IRF6):c.242C>A (p.Ala81Asp) rs1553248270
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) rs121434226
NM_006147.4(IRF6):c.251G>A (p.Arg84His) rs121434227
NM_006147.4(IRF6):c.259C>T (p.Leu87Phe)
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) rs1553248641
NM_006147.4(IRF6):c.260T>C (p.Leu87Pro) rs1553248267
NM_006147.4(IRF6):c.263A>G (p.Asn88Ser) rs2102542868
NM_006147.4(IRF6):c.264T>A (p.Asn88Lys) rs1553248265
NM_006147.4(IRF6):c.269G>C (p.Ser90Thr) rs2102542857
NM_006147.4(IRF6):c.274G>A (p.Glu92Lys)
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) rs121434224
NM_006147.4(IRF6):c.277T>C (p.Phe93Leu) rs2077901853
NM_006147.4(IRF6):c.281A>G (p.Asn94Ser)
NM_006147.4(IRF6):c.290A>G (p.Tyr97Cys)
NM_006147.4(IRF6):c.292G>C (p.Asp98His) rs1571983348
NM_006147.4(IRF6):c.294T>C (p.Asp98=)
NM_006147.4(IRF6):c.2T>A (p.Met1Lys)
NM_006147.4(IRF6):c.301A>G (p.Lys101Glu)
NM_006147.4(IRF6):c.321_322del (p.Val108fs) rs2102542809
NM_006147.4(IRF6):c.327G>C (p.Lys109Asn) rs2102542804
NM_006147.4(IRF6):c.329T>C (p.Ile110Thr)
NM_006147.4(IRF6):c.35C>A (p.Pro12His) rs2077940711
NM_006147.4(IRF6):c.379+3G>T
NM_006147.4(IRF6):c.379G>A (p.Gly127Arg)
NM_006147.4(IRF6):c.390G>A (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.390G>T (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg) rs1558042905
NM_006147.4(IRF6):c.430G>T (p.Glu144Ter)
NM_006147.4(IRF6):c.439del (p.Glu147fs) rs2102541666
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter) rs1057520738
NM_006147.4(IRF6):c.458C>T (p.Ser153Leu)
NM_006147.4(IRF6):c.478C>T (p.Gln160Ter) rs1322638469
NM_006147.4(IRF6):c.492del (p.Phe165fs)
NM_006147.4(IRF6):c.508+15T>G
NM_006147.4(IRF6):c.522G>A (p.Ala174=)
NM_006147.4(IRF6):c.52G>A (p.Val18Met) rs2077940645
NM_006147.4(IRF6):c.558C>A (p.Cys186Ter) rs2077874511
NM_006147.4(IRF6):c.561C>A (p.Ser187Arg)
NM_006147.4(IRF6):c.565G>A (p.Glu189Lys) rs1558039763
NM_006147.4(IRF6):c.56_62del (p.Asp19fs)
NM_006147.4(IRF6):c.575G>A (p.Trp192Ter) rs1399955256
NM_006147.4(IRF6):c.622C>T (p.Gln208Ter) rs2077873846
NM_006147.4(IRF6):c.647_650dup (p.Trp217fs) rs2102538567
NM_006147.4(IRF6):c.649T>C (p.Trp217Arg)
NM_006147.4(IRF6):c.665C>T (p.Pro222Leu) rs1571980623
NM_006147.4(IRF6):c.668-5T>G rs1553247787
NM_006147.4(IRF6):c.668-8C>G rs2077865321
NM_006147.4(IRF6):c.683T>C (p.Ile228Thr) rs2102537206
NM_006147.4(IRF6):c.726C>G (p.Thr242=) rs115610019
NM_006147.4(IRF6):c.745T>C (p.Cys249Arg) rs2102537121
NM_006147.4(IRF6):c.748C>T (p.Arg250Ter) rs2077864704
NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) rs1553247774
NM_006147.4(IRF6):c.754T>G (p.Phe252Val) rs2077864661
NM_006147.4(IRF6):c.760G>A (p.Gly254Arg)
NM_006147.4(IRF6):c.777G>A (p.Met259Ile)
NM_006147.4(IRF6):c.805G>A (p.Val269Ile)
NM_006147.4(IRF6):c.819G>C (p.Gln273His) rs2077864346
NM_006147.4(IRF6):c.819_820delinsCA (p.Gln273_Val274delinsHisIle)
NM_006147.4(IRF6):c.82T>G (p.Trp28Gly) rs1553248637
NM_006147.4(IRF6):c.866T>C (p.Leu289Pro) rs2102536986
NM_006147.4(IRF6):c.889G>A (p.Val297Ile) rs779827384
NM_006147.4(IRF6):c.902del (p.Gly301fs) rs2102536939
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006147.4(IRF6):c.928G>C (p.Ala310Pro)
NM_006147.4(IRF6):c.932T>C (p.Ile311Thr) rs2077863646
NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) rs1571979607
NM_006147.4(IRF6):c.961G>A (p.Val321Met) rs2102536882
NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn) rs1553247754
NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) rs2077863259
NM_006265.3(RAD21):c.1045dup (p.Thr349fs)
NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro)
NM_006265.3(RAD21):c.1130C>T (p.Ala377Val)
NM_006265.3(RAD21):c.1153C>G (p.Leu385Val)
NM_006265.3(RAD21):c.1162-20_1162-18del
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.12A>C (p.Ala4=)
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter) rs1563688680
NM_006265.3(RAD21):c.1317T>C (p.Val439=)
NM_006265.3(RAD21):c.1322-14A>G
NM_006265.3(RAD21):c.1322-5T>G
NM_006265.3(RAD21):c.1322-6T>C
NM_006265.3(RAD21):c.1329C>G (p.Pro443=) rs765533095
NM_006265.3(RAD21):c.1353C>T (p.Leu451=)
NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro)
NM_006265.3(RAD21):c.1382_1384del (p.Thr461del)
NM_006265.3(RAD21):c.1425A>T (p.Gly475=)
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter) rs748575266
NM_006265.3(RAD21):c.144+5G>A
NM_006265.3(RAD21):c.1470+13A>G
NM_006265.3(RAD21):c.1470+20C>T
NM_006265.3(RAD21):c.1471-13G>A
NM_006265.3(RAD21):c.1489A>G (p.Met497Val)
NM_006265.3(RAD21):c.1500A>G (p.Pro500=)
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.1560_1583dup (p.Glu528_Lys529insLeuLeuProGluLysGluLysGlu)
NM_006265.3(RAD21):c.1564C>G (p.Leu522Val)
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.1620+11_1620+14del
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.165A>G (p.Thr55=)
NM_006265.3(RAD21):c.1694A>G (p.His565Arg)
NM_006265.3(RAD21):c.1705-15T>C
NM_006265.3(RAD21):c.1705-2A>G
NM_006265.3(RAD21):c.1719A>G (p.Lys573=)
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.1753T>C (p.Cys585Arg) rs387907213
NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg)
NM_006265.3(RAD21):c.1815G>C (p.Lys605Asn)
NM_006265.3(RAD21):c.1824T>G (p.Ala608=)
NM_006265.3(RAD21):c.1845A>G (p.Glu615=)
NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe) rs764118613
NM_006265.3(RAD21):c.1863C>G (p.Ile621Met) rs763059424
NM_006265.3(RAD21):c.1863C>T (p.Ile621=)
NM_006265.3(RAD21):c.1895A>G (p.Ter632=)
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)
NM_006265.3(RAD21):c.228A>T (p.Ala76=) rs2130479411
NM_006265.3(RAD21):c.351T>C (p.Phe117=)
NM_006265.3(RAD21):c.374+13T>C
NM_006265.3(RAD21):c.375-12C>T
NM_006265.3(RAD21):c.375-9_375-7del
NM_006265.3(RAD21):c.42G>C (p.Leu14=)
NM_006265.3(RAD21):c.431C>T (p.Thr144Ile)
NM_006265.3(RAD21):c.466C>T (p.Gln156Ter) rs1812515682
NM_006265.3(RAD21):c.481+8A>C
NM_006265.3(RAD21):c.482-15_482-11del rs750504354
NM_006265.3(RAD21):c.482-19C>T
NM_006265.3(RAD21):c.482-3del rs1217367738
NM_006265.3(RAD21):c.482G>A (p.Gly161Asp)
NM_006265.3(RAD21):c.513G>A (p.Met171Ile)
NM_006265.3(RAD21):c.564T>G (p.Thr188=)
NM_006265.3(RAD21):c.576A>G (p.Leu192=)
NM_006265.3(RAD21):c.583T>C (p.Ser195Pro)
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter) rs1352385210
NM_006265.3(RAD21):c.623A>G (p.His208Arg)
NM_006265.3(RAD21):c.676G>A (p.Gly226Ser)
NM_006265.3(RAD21):c.683del (p.Ile228fs)
NM_006265.3(RAD21):c.686T>C (p.Leu229Ser)
NM_006265.3(RAD21):c.689-15C>A
NM_006265.3(RAD21):c.689-15C>T
NM_006265.3(RAD21):c.689-16dup rs773593714
NM_006265.3(RAD21):c.689-17del
NM_006265.3(RAD21):c.689-4del
NM_006265.3(RAD21):c.699T>C (p.Leu233=)
NM_006265.3(RAD21):c.714T>C (p.Asp238=)
NM_006265.3(RAD21):c.741C>A (p.Ala247=)
NM_006265.3(RAD21):c.744C>T (p.Leu248=)
NM_006265.3(RAD21):c.767C>T (p.Pro256Leu)
NM_006265.3(RAD21):c.814+6C>G
NM_006265.3(RAD21):c.815-10_815-5del rs35902828
NM_006265.3(RAD21):c.815-15_815-5del
NM_006265.3(RAD21):c.815-17_815-5del rs35902828
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006265.3(RAD21):c.815-6T>A
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006265.3(RAD21):c.81A>C (p.Leu27=)
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_006265.3(RAD21):c.937+10T>C
NM_006265.3(RAD21):c.937+7A>G
NM_006265.3(RAD21):c.938-14del
NM_006265.3(RAD21):c.943_946del (p.Glu315fs) rs2130463115
NM_006265.3(RAD21):c.948A>G (p.Thr316=)
NM_006265.3(RAD21):c.9C>T (p.Tyr3=)
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=) rs782132247
NM_006306.4(SMC1A):c.1050T>C (p.Phe350=) rs2146604747
NM_006306.4(SMC1A):c.1056A>G (p.Glu352=)
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)
NM_006306.4(SMC1A):c.1059G>A (p.Arg353=)
NM_006306.4(SMC1A):c.1080T>C (p.Ser360=)
NM_006306.4(SMC1A):c.109+19C>A rs933977903
NM_006306.4(SMC1A):c.109+19C>T
NM_006306.4(SMC1A):c.1099T>C (p.Leu367=)
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer) rs2146614137
NM_006306.4(SMC1A):c.110-12C>T
NM_006306.4(SMC1A):c.110-16G>A rs929835697
NM_006306.4(SMC1A):c.110-17C>T
NM_006306.4(SMC1A):c.110-19C>T
NM_006306.4(SMC1A):c.1113+16G>C
NM_006306.4(SMC1A):c.1113+17del
NM_006306.4(SMC1A):c.1114-15C>T rs1489497654
NM_006306.4(SMC1A):c.1114-21_1114-19del
NM_006306.4(SMC1A):c.1114-3C>T
NM_006306.4(SMC1A):c.1125C>T (p.Tyr375=)
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.1152G>A (p.Lys384=)
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=) rs2075714290
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1191T>C (p.Asn397=)
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn) rs2075714119
NM_006306.4(SMC1A):c.1212G>A (p.Gln404=) rs2146604588
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn)
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)
NM_006306.4(SMC1A):c.1239G>A (p.Lys413=)
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1254+17A>G rs2146604554
NM_006306.4(SMC1A):c.1254+8A>G rs2075713975
NM_006306.4(SMC1A):c.1255-19T>G
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.12G>C (p.Leu4=) rs2146614125
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
NM_006306.4(SMC1A):c.1337+15A>C
NM_006306.4(SMC1A):c.1337+17C>T rs2075702882
NM_006306.4(SMC1A):c.1338-12C>G
NM_006306.4(SMC1A):c.1338-12del
NM_006306.4(SMC1A):c.1338-4G>A rs2146602390
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.1402C>A (p.Arg468=)
NM_006306.4(SMC1A):c.1404G>A (p.Arg468=)
NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val)
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly) rs2146602338
NM_006306.4(SMC1A):c.1419C>T (p.Ile473=)
NM_006306.4(SMC1A):c.1425G>A (p.Lys475=) rs2075702025
NM_006306.4(SMC1A):c.1428G>A (p.Glu476=) rs2146602309
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro) rs2075701962
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1467C>T (p.Ile489=)
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.4(SMC1A):c.1488C>A (p.Arg496=)
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.1497A>C (p.Arg499=) rs2146602244
NM_006306.4(SMC1A):c.1536T>C (p.Pro512=) rs200645744
NM_006306.4(SMC1A):c.1545+18A>G
NM_006306.4(SMC1A):c.1546-10C>G rs2146600160
NM_006306.4(SMC1A):c.1546-11A>G
NM_006306.4(SMC1A):c.1546-13C>G
NM_006306.4(SMC1A):c.1546-17C>T
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His) rs2146600129
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg) rs2146600076
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=) rs782582676
NM_006306.4(SMC1A):c.1653G>A (p.Lys551=)
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.1694G>A (p.Gly565Glu) rs2146600012
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys) rs2146600005
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
NM_006306.4(SMC1A):c.1731+3G>T rs2075688980
NM_006306.4(SMC1A):c.1732-19A>G rs2146599868
NM_006306.4(SMC1A):c.1732-6C>T
NM_006306.4(SMC1A):c.1732-7C>A
NM_006306.4(SMC1A):c.1782G>A (p.Val594=)
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe)
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu)
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.184C>A (p.Arg62=)
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.1899C>T (p.His633=)
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His) rs2146599709
NM_006306.4(SMC1A):c.1911+11C>T
NM_006306.4(SMC1A):c.1911+18C>T
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=) rs2075687850
NM_006306.4(SMC1A):c.1912-10C>G
NM_006306.4(SMC1A):c.1912-4G>T rs2075687357
NM_006306.4(SMC1A):c.1920A>T (p.Ala640=)
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
NM_006306.4(SMC1A):c.192G>C (p.Leu64=) rs2146606701
NM_006306.4(SMC1A):c.1935A>C (p.Leu645=)
NM_006306.4(SMC1A):c.1935A>G (p.Leu645=)
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val)
NM_006306.4(SMC1A):c.1962T>G (p.Gly654=)
NM_006306.4(SMC1A):c.1977G>A (p.Leu659=) rs2146599598
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
NM_006306.4(SMC1A):c.2040C>T (p.Arg680=) rs782816467
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val) rs2075686262
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2088A>G (p.Ala696=)
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys) rs2075686139
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs) rs2146599324
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro)
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=) rs1255531738
NM_006306.4(SMC1A):c.2160A>G (p.Glu720=) rs2146599315
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter) rs2075685944
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter) rs2146599304
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) rs968499171
NM_006306.4(SMC1A):c.2226C>T (p.Ala742=)
NM_006306.4(SMC1A):c.2229C>T (p.Asn743=)
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter) rs1556889269
NM_006306.4(SMC1A):c.2278A>C (p.Arg760=)
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.2314-12T>C
NM_006306.4(SMC1A):c.2314-15G>A rs2146598343
NM_006306.4(SMC1A):c.2314-2A>G rs1602409271
NM_006306.4(SMC1A):c.2314-2A>T rs1602409271
NM_006306.4(SMC1A):c.2314-5C>T
NM_006306.4(SMC1A):c.2314-7_2314-3del rs2146598341
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu) rs2075680361
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr) rs2075680329
NM_006306.4(SMC1A):c.2328G>A (p.Val776=) rs2146598325
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
NM_006306.4(SMC1A):c.2346G>C (p.Arg782=)
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.4(SMC1A):c.2382A>G (p.Glu794=) rs2146598260
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter) rs2146598241
NM_006306.4(SMC1A):c.2420+5G>A rs1556889217
NM_006306.4(SMC1A):c.2421-14A>C
NM_006306.4(SMC1A):c.2421-15del
NM_006306.4(SMC1A):c.2421-15dup rs781926382
NM_006306.4(SMC1A):c.2421-16C>G
NM_006306.4(SMC1A):c.2421-16C>T
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter) rs2146595540
NM_006306.4(SMC1A):c.243C>T (p.Ser81=)
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.4(SMC1A):c.2454C>T (p.Gly818=)
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser) rs587784413
NM_006306.4(SMC1A):c.2487G>A (p.Lys829=)
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
NM_006306.4(SMC1A):c.2523A>G (p.Thr841=)
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
NM_006306.4(SMC1A):c.2562+13A>G
NM_006306.4(SMC1A):c.2563-13C>T
NM_006306.4(SMC1A):c.2563-3C>G
NM_006306.4(SMC1A):c.2563-3C>T
NM_006306.4(SMC1A):c.2563-7G>A
NM_006306.4(SMC1A):c.2568A>G (p.Glu856=) rs2146593670
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) rs1602405816
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
NM_006306.4(SMC1A):c.2592T>C (p.Asp864=)
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn) rs2146593635
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.2640G>A (p.Lys880=) rs2075651961
NM_006306.4(SMC1A):c.2700C>G (p.Gly900=)
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.2708+12C>G
NM_006306.4(SMC1A):c.2708+13A>G
NM_006306.4(SMC1A):c.2708+16C>T
NM_006306.4(SMC1A):c.2708+7G>A
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.4(SMC1A):c.2709-16C>G
NM_006306.4(SMC1A):c.2709-4T>A rs1602405648
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)
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.2739A>G (p.Thr913=) rs2146593498
NM_006306.4(SMC1A):c.2742C>T (p.Ala914=)
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
NM_006306.4(SMC1A):c.2785T>C (p.Leu929=)
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro) rs2146593453
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer) rs2146593421
NM_006306.4(SMC1A):c.2862+15T>C
NM_006306.4(SMC1A):c.2862+3G>C rs2075650901
NM_006306.4(SMC1A):c.2862+4A>G rs1445281439
NM_006306.4(SMC1A):c.2863-13G>A
NM_006306.4(SMC1A):c.2863-14C>T
NM_006306.4(SMC1A):c.2863-17C>G
NM_006306.4(SMC1A):c.2863-19C>T
NM_006306.4(SMC1A):c.2863-6T>C
NM_006306.4(SMC1A):c.2863-9C>G rs371102918
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys) rs2146606642
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
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.2890_2893del (p.Ser964fs)
NM_006306.4(SMC1A):c.2895T>C (p.Gly965=) rs2075645097
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter) rs2146592415
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
NM_006306.4(SMC1A):c.2919T>C (p.Tyr973=)
NM_006306.4(SMC1A):c.2922A>G (p.Ala974=)
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter) rs2146592407
NM_006306.4(SMC1A):c.2928G>A (p.Glu976=)
NM_006306.4(SMC1A):c.2943T>C (p.Ile981=)
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
NM_006306.4(SMC1A):c.2973+11A>G
NM_006306.4(SMC1A):c.2973+12C>T
NM_006306.4(SMC1A):c.2973+16A>G
NM_006306.4(SMC1A):c.2973+16A>T
NM_006306.4(SMC1A):c.2973+18G>A rs782310979
NM_006306.4(SMC1A):c.2973+18G>C
NM_006306.4(SMC1A):c.2973+20G>A
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) rs2075644860
NM_006306.4(SMC1A):c.2974-20G>C
NM_006306.4(SMC1A):c.2974-9G>A rs2146583272
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=) rs2146583246
NM_006306.4(SMC1A):c.298+9G>A rs1556891082
NM_006306.4(SMC1A):c.299-12A>G
NM_006306.4(SMC1A):c.299-14G>A rs2146606574
NM_006306.4(SMC1A):c.299-19C>T
NM_006306.4(SMC1A):c.3024G>A (p.Gln1008=) rs2146583203
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
NM_006306.4(SMC1A):c.302del (p.Gly101fs) rs2146606566
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.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=)
NM_006306.4(SMC1A):c.3130+11C>G
NM_006306.4(SMC1A):c.3131-15C>T
NM_006306.4(SMC1A):c.3131-19C>T
NM_006306.4(SMC1A):c.3131-4del
NM_006306.4(SMC1A):c.3131-5G>C
NM_006306.4(SMC1A):c.3131-7C>T
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter) rs2146582701
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter) rs1569351907
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=) rs1432130956
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=)
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly) rs2075588188
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)
NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=)
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.3246T>C (p.Asp1082=)
NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=)
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs) rs2075587887
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met) rs587784417
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
NM_006306.4(SMC1A):c.3286-4del rs782700135
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser) rs2146582465
NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=) rs797045994
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr) rs2146582443
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe) rs2146582443
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp) rs2146582432
NM_006306.4(SMC1A):c.336C>G (p.Val112=)
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)
NM_006306.4(SMC1A):c.3437+12C>A rs2146582406
NM_006306.4(SMC1A):c.3437+1G>A rs2146582412
NM_006306.4(SMC1A):c.3438-12G>T rs2146581650
NM_006306.4(SMC1A):c.3438-8C>T
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val) rs2146614101
NM_006306.4(SMC1A):c.3507+3G>A rs1556885809
NM_006306.4(SMC1A):c.3508-13G>T
NM_006306.4(SMC1A):c.3508-15C>T
NM_006306.4(SMC1A):c.3508-18T>C
NM_006306.4(SMC1A):c.3508-20C>T
NM_006306.4(SMC1A):c.3508-2A>G rs2146581345
NM_006306.4(SMC1A):c.3508-6C>T
NM_006306.4(SMC1A):c.351C>T (p.Tyr117=)
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.3549G>A (p.Gln1183=) rs2146581326
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val) rs2146581303
NM_006306.4(SMC1A):c.357G>A (p.Glu119=)
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=) rs146216425
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
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.3651C>T (p.Thr1217=) rs2146581010
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
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.3660C>T (p.Leu1220=) rs1348100944
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala) rs2146580992
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=)
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
NM_006306.4(SMC1A):c.378T>A (p.Ile126=)
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln) rs2075764777
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
NM_006306.4(SMC1A):c.392del (p.Arg131fs) rs2075725850
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val) rs2075725792
NM_006306.4(SMC1A):c.399C>T (p.Phe133=) rs1463042305
NM_006306.4(SMC1A):c.412-12G>T
NM_006306.4(SMC1A):c.412-7T>C
NM_006306.4(SMC1A):c.412-9C>T
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser) rs2146605688
NM_006306.4(SMC1A):c.441C>T (p.Asn147=)
NM_006306.4(SMC1A):c.444C>G (p.Pro148=)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys) rs2075720794
NM_006306.4(SMC1A):c.462A>G (p.Leu154=) rs2146605662
NM_006306.4(SMC1A):c.474T>C (p.Ile158=)
NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
NM_006306.4(SMC1A):c.481del (p.Ser161fs) rs2146605644
NM_006306.4(SMC1A):c.483T>C (p.Ser161=) rs782286610
NM_006306.4(SMC1A):c.489G>A (p.Glu163=)
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg) rs2146605622
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.528G>A (p.Val176=) rs1359837999
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs) rs2146605568
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys) rs2146605558
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
NM_006306.4(SMC1A):c.582T>C (p.Ala194=)
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly) rs587784422
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.587G>A (p.Arg196His) rs1556890815
NM_006306.4(SMC1A):c.615+14C>T
NM_006306.4(SMC1A):c.615+8G>A
NM_006306.4(SMC1A):c.616-19C>T
NM_006306.4(SMC1A):c.616-4A>G
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006306.4(SMC1A):c.616-7del rs1312306004
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter) rs2146605443
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
NM_006306.4(SMC1A):c.666G>A (p.Gln222=) rs2146605417
NM_006306.4(SMC1A):c.669G>C (p.Leu223=) rs1556890780
NM_006306.4(SMC1A):c.678T>C (p.Phe226=) rs2146605400
NM_006306.4(SMC1A):c.732A>G (p.Ser244=) rs1193851590
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs) rs2146605369
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.761del (p.Lys254fs) rs2146605339
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.813C>A (p.Gly271=)
NM_006306.4(SMC1A):c.813C>T (p.Gly271=)
NM_006306.4(SMC1A):c.81C>T (p.Phe27=) rs2075764568
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
NM_006306.4(SMC1A):c.854+6_854+7del rs1569358983
NM_006306.4(SMC1A):c.855-12C>T
NM_006306.4(SMC1A):c.855-14C>T
NM_006306.4(SMC1A):c.855-17C>T
NM_006306.4(SMC1A):c.855-1G>A
NM_006306.4(SMC1A):c.859_861del (p.Lys287del) rs1556890626
NM_006306.4(SMC1A):c.867A>G (p.Ser289=) rs2146604827
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
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.951G>A (p.Lys317=) rs2146604793
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
NM_006306.4(SMC1A):c.972G>A (p.Lys324=)
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro) rs782449052
NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr) rs1199734991
NM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr) rs1658214274
NM_012243.3(SLC35A3):c.120T>A (p.Ser40=)
NM_012243.3(SLC35A3):c.123A>G (p.Thr41=)
NM_012243.3(SLC35A3):c.126A>C (p.Ala42=)
NM_012243.3(SLC35A3):c.12C>T (p.Asn4=) rs1658214469
NM_012243.3(SLC35A3):c.147G>A (p.Leu49=)
NM_012243.3(SLC35A3):c.150G>A (p.Lys50=) rs2101133972
NM_012243.3(SLC35A3):c.168A>G (p.Leu56=)
NM_012243.3(SLC35A3):c.174C>G (p.Val58=) rs1403560766
NM_012243.3(SLC35A3):c.174C>T (p.Val58=) rs1403560766
NM_012243.3(SLC35A3):c.177C>T (p.Tyr59=) rs1570588627
NM_012243.3(SLC35A3):c.183C>T (p.Asp61=)
NM_012243.3(SLC35A3):c.187+10T>C rs2101134310
NM_012243.3(SLC35A3):c.187+18_187+19dup
NM_012243.3(SLC35A3):c.187+20G>T
NM_012243.3(SLC35A3):c.187+9C>A
NM_012243.3(SLC35A3):c.188-12_188-11del
NM_012243.3(SLC35A3):c.188-14A>T
NM_012243.3(SLC35A3):c.188-1G>T
NM_012243.3(SLC35A3):c.189A>G (p.Lys63=)
NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr) rs1658606601
NM_012243.3(SLC35A3):c.194G>T (p.Ser65Ile) rs1658606953
NM_012243.3(SLC35A3):c.201A>G (p.Arg67=) rs748968538
NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer)
NM_012243.3(SLC35A3):c.210T>C (p.Asn70=) rs1287781530
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter) rs775151826
NM_012243.3(SLC35A3):c.231T>C (p.Ile77=)
NM_012243.3(SLC35A3):c.234T>G (p.Leu78=)
NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT (p.Asn79fs) rs2101195764
NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala)
NM_012243.3(SLC35A3):c.264T>C (p.Ala88=) rs1570597448
NM_012243.3(SLC35A3):c.267T>A (p.Ile89=) rs2101196455
NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu)
NM_012243.3(SLC35A3):c.285T>C (p.Thr95=)
NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs)
NM_012243.3(SLC35A3):c.28C>T (p.Leu10=)
NM_012243.3(SLC35A3):c.300A>G (p.Leu100=) rs2101196904
NM_012243.3(SLC35A3):c.303G>A (p.Leu101=) rs1265111632
NM_012243.3(SLC35A3):c.313C>T (p.Leu105=)
NM_012243.3(SLC35A3):c.327T>C (p.Asp109=) rs2101197308
NM_012243.3(SLC35A3):c.330A>G (p.Ala110=) rs2101197432
NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=)
NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)
NM_012243.3(SLC35A3):c.342+12A>G
NM_012243.3(SLC35A3):c.342+14A>G
NM_012243.3(SLC35A3):c.342+18C>A
NM_012243.3(SLC35A3):c.342+18_342+19del
NM_012243.3(SLC35A3):c.342+1G>A rs1553201582
NM_012243.3(SLC35A3):c.342+22_342+25del
NM_012243.3(SLC35A3):c.342+4C>T rs1658617673
NM_012243.3(SLC35A3):c.343-14G>C
NM_012243.3(SLC35A3):c.343-15T>C
NM_012243.3(SLC35A3):c.343-18T>C
NM_012243.3(SLC35A3):c.348G>T (p.Thr116=) rs574333514
NM_012243.3(SLC35A3):c.355T>C (p.Leu119=) rs1297581482
NM_012243.3(SLC35A3):c.384T>G (p.Ser128=) rs2101309506
NM_012243.3(SLC35A3):c.38del (p.Leu13fs) rs2101133098
NM_012243.3(SLC35A3):c.411T>A (p.Gly137=)
NM_012243.3(SLC35A3):c.414A>G (p.Val138=) rs988629039
NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)
NM_012243.3(SLC35A3):c.429C>T (p.Ser143=)
NM_012243.3(SLC35A3):c.42C>A (p.Val14=)
NM_012243.3(SLC35A3):c.430C>T (p.Leu144=)
NM_012243.3(SLC35A3):c.45del (p.Gln16fs)
NM_012243.3(SLC35A3):c.462A>G (p.Val154=) rs1659292291
NM_012243.3(SLC35A3):c.465+18G>A
NM_012243.3(SLC35A3):c.466-12C>T
NM_012243.3(SLC35A3):c.466-18A>G
NM_012243.3(SLC35A3):c.466-9_466-7del
NM_012243.3(SLC35A3):c.471C>A (p.Pro157=)
NM_012243.3(SLC35A3):c.471C>T (p.Pro157=) rs1269158450
NM_012243.3(SLC35A3):c.474A>G (p.Ser158=)
NM_012243.3(SLC35A3):c.477T>G (p.Asp159Glu)
NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter) rs1553203137
NM_012243.3(SLC35A3):c.49A>G (p.Thr17Ala) rs1334259370
NM_012243.3(SLC35A3):c.513T>C (p.Ser171=)
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter) rs398122524
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=) rs1282648211
NM_012243.3(SLC35A3):c.520del (p.Phe173_Val174insTer) rs1659624849
NM_012243.3(SLC35A3):c.534A>G (p.Ala178=)
NM_012243.3(SLC35A3):c.546A>T (p.Ala182=)
NM_012243.3(SLC35A3):c.548G>A (p.Cys183Tyr) rs1184691007
NM_012243.3(SLC35A3):c.549T>C (p.Cys183=) rs2101369309
NM_012243.3(SLC35A3):c.561C>T (p.Gly187=) rs112451945
NM_012243.3(SLC35A3):c.570G>A (p.Gly190=) rs1456464744
NM_012243.3(SLC35A3):c.570G>T (p.Gly190=)
NM_012243.3(SLC35A3):c.579T>C (p.Phe193=)
NM_012243.3(SLC35A3):c.588_589del (p.Leu197fs)
NM_012243.3(SLC35A3):c.594A>G (p.Lys198=) rs2101370023
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs) rs1332257684
NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter) rs2101370069
NM_012243.3(SLC35A3):c.597A>G (p.Glu199=)
NM_012243.3(SLC35A3):c.600A>C (p.Thr200=)
NM_012243.3(SLC35A3):c.605_606insGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACAACAGAGCAAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAACA (p.Ser203fs)
NM_012243.3(SLC35A3):c.609_610del (p.Trp205fs)
NM_012243.3(SLC35A3):c.612G>A (p.Val204=)
NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter)
NM_012243.3(SLC35A3):c.624T>C (p.Asn208=) rs1010621391
NM_012243.3(SLC35A3):c.634+11_634+12dup
NM_012243.3(SLC35A3):c.634+12A>G
NM_012243.3(SLC35A3):c.634+15T>G
NM_012243.3(SLC35A3):c.635-14_635-13del
NM_012243.3(SLC35A3):c.635-2A>T
NM_012243.3(SLC35A3):c.635-3del rs766308423
NM_012243.3(SLC35A3):c.635-3dup
NM_012243.3(SLC35A3):c.635-5_635-3del rs766308423
NM_012243.3(SLC35A3):c.63T>A (p.Val21=) rs141542767
NM_012243.3(SLC35A3):c.645A>T (p.Gly215=) rs2101423658
NM_012243.3(SLC35A3):c.669A>G (p.Val223=) rs2101424040
NM_012243.3(SLC35A3):c.672C>T (p.Tyr224=) rs1660022175
NM_012243.3(SLC35A3):c.687A>G (p.Glu229=)
NM_012243.3(SLC35A3):c.693A>G (p.Val231=) rs2101424477
NM_012243.3(SLC35A3):c.699del (p.Asn234fs)
NM_012243.3(SLC35A3):c.69A>T (p.Thr23=)
NM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp) rs1557844477
NM_012243.3(SLC35A3):c.702T>C (p.Asn234=) rs2101424655
NM_012243.3(SLC35A3):c.711dup (p.Gln238fs) rs1316448163
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter) rs1660025629
NM_012243.3(SLC35A3):c.725G>A (p.Arg242Gln) rs760633616
NM_012243.3(SLC35A3):c.726A>C (p.Arg242=)
NM_012243.3(SLC35A3):c.732C>T (p.Thr244=)
NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter)
NM_012243.3(SLC35A3):c.736A>G (p.Ile246Val)
NM_012243.3(SLC35A3):c.738A>G (p.Ile246Met)
NM_012243.3(SLC35A3):c.741A>G (p.Val247=)
NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter) rs1660027548
NM_012243.3(SLC35A3):c.753+12A>G
NM_012243.3(SLC35A3):c.753+15G>A
NM_012243.3(SLC35A3):c.753+16T>C
NM_012243.3(SLC35A3):c.753+7C>T
NM_012243.3(SLC35A3):c.753+8A>T
NM_012243.3(SLC35A3):c.753G>A (p.Gln251=) rs1660027769
NM_012243.3(SLC35A3):c.754-18del
NM_012243.3(SLC35A3):c.754_755del (p.Ala252fs)
NM_012243.3(SLC35A3):c.756A>G (p.Ala252=)
NM_012243.3(SLC35A3):c.756A>T (p.Ala252=)
NM_012243.3(SLC35A3):c.759T>C (p.Leu253=) rs2101455187
NM_012243.3(SLC35A3):c.762A>T (p.Gly254=) rs2101455378
NM_012243.3(SLC35A3):c.762_763dup (p.Gly255fs) rs1570625903
NM_012243.3(SLC35A3):c.76T>A (p.Tyr26Asn)
NM_012243.3(SLC35A3):c.771A>C (p.Val257=)
NM_012243.3(SLC35A3):c.771A>G (p.Val257=) rs2101455469
NM_012243.3(SLC35A3):c.778G>C (p.Ala260Pro) rs1557846118
NM_012243.3(SLC35A3):c.780T>A (p.Ala260=) rs1287725180
NM_012243.3(SLC35A3):c.783del (p.Ile262fs)
NM_012243.3(SLC35A3):c.792T>C (p.Tyr264=)
NM_012243.3(SLC35A3):c.796G>T (p.Asp266Tyr)
NM_012243.3(SLC35A3):c.798T>C (p.Asp266=)
NM_012243.3(SLC35A3):c.807A>G (p.Leu269=)
NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)
NM_012243.3(SLC35A3):c.81C>G (p.Ser27=)
NM_012243.3(SLC35A3):c.822C>T (p.Thr274=) rs2101456060
NM_012243.3(SLC35A3):c.827T>C (p.Leu276Ser) rs1553204431
NM_012243.3(SLC35A3):c.831G>A (p.Ser277=) rs749734512
NM_012243.3(SLC35A3):c.843A>C (p.Ser281=)
NM_012243.3(SLC35A3):c.846A>G (p.Thr282=)
NM_012243.3(SLC35A3):c.852C>A (p.Ile284=)
NM_012243.3(SLC35A3):c.858T>C (p.Tyr286=) rs1368296616
NM_012243.3(SLC35A3):c.885C>T (p.Thr295=) rs1220907691
NM_012243.3(SLC35A3):c.887+13_887+17del rs552844460
NM_012243.3(SLC35A3):c.887+17T>G
NM_012243.3(SLC35A3):c.887+25dup
NM_012243.3(SLC35A3):c.887+7del rs1553204463
NM_012243.3(SLC35A3):c.887+8G>A rs772703781
NM_012243.3(SLC35A3):c.887G>A (p.Ser296Asn) rs1310530690
NM_012243.3(SLC35A3):c.888-10T>A rs750539187
NM_012243.3(SLC35A3):c.888-13del
NM_012243.3(SLC35A3):c.891C>A (p.Val297=)
NM_012243.3(SLC35A3):c.894T>C (p.Phe298=)
NM_012243.3(SLC35A3):c.900T>A (p.Leu300=)
NM_012243.3(SLC35A3):c.906C>T (p.Ala302=) rs2101501181
NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del)
NM_012243.3(SLC35A3):c.945T>C (p.Asp315=)
NM_012243.3(SLC35A3):c.951A>G (p.Lys317=)
NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu) rs1553205151
NM_012243.3(SLC35A3):c.966C>T (p.Pro322=) rs1406942729
NM_012243.3(SLC35A3):c.96A>G (p.Glu32=)
NM_012243.3(SLC35A3):c.975A>C (p.Ala325=)
NM_013352.4(DSE):c.101C>G (p.Pro34Arg) rs35548455
NM_013352.4(DSE):c.102C>T (p.Pro34=)
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
NM_013352.4(DSE):c.110A>G (p.Asn37Ser) rs371802983
NM_013352.4(DSE):c.110A>T (p.Asn37Ile) rs371802983
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr) rs2115093579
NM_013352.4(DSE):c.1197C>T (p.Val399=)
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
NM_013352.4(DSE):c.1284T>C (p.Tyr428=) rs1583235798
NM_013352.4(DSE):c.1293C>A (p.Val431=)
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser) rs1423707879
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn) rs2115094114
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu) rs757356537
NM_013352.4(DSE):c.144C>T (p.Phe48=)
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs) rs2115094515
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn) rs2115094625
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu) rs2115094990
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs) rs2115095071
NM_013352.4(DSE):c.1686T>A (p.His562Gln) rs2115095121
NM_013352.4(DSE):c.16C>A (p.Arg6=)
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
NM_013352.4(DSE):c.171G>T (p.Gln57His)
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
NM_013352.4(DSE):c.1752G>C (p.Ala584=) rs561665809
NM_013352.4(DSE):c.1809T>C (p.His603=)
NM_013352.4(DSE):c.182C>A (p.Ala61Asp) rs2114995025
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
NM_013352.4(DSE):c.1897G>A (p.Val633Met) rs550208733
NM_013352.4(DSE):c.1911G>C (p.Arg637=) rs2115096083
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe) rs1784155007
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
NM_013352.4(DSE):c.192C>T (p.His64=)
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
NM_013352.4(DSE):c.201T>A (p.Ile67=)
NM_013352.4(DSE):c.2031C>T (p.His677=)
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
NM_013352.4(DSE):c.2063C>T (p.Ala688Val) rs143443243
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser) rs762120249
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys) rs762120249
NM_013352.4(DSE):c.2196C>A (p.Val732=)
NM_013352.4(DSE):c.21G>C (p.Gly7=)
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter) rs1784181791
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
NM_013352.4(DSE):c.2358T>C (p.Thr786=) rs781704477
NM_013352.4(DSE):c.237G>A (p.Leu79=)
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys) rs760979521
NM_013352.4(DSE):c.2465T>C (p.Val822Ala) rs778282572
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly) rs2115099078
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly) rs113277624
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp) rs113277624
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
NM_013352.4(DSE):c.2646G>A (p.Gln882=) rs2115099368
NM_013352.4(DSE):c.264C>G (p.Pro88=)
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
NM_013352.4(DSE):c.277G>A (p.Asp93Asn) rs2114995361
NM_013352.4(DSE):c.2799del (p.Arg933fs) rs1339083714
NM_013352.4(DSE):c.27C>A (p.Pro9=)
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
NM_013352.4(DSE):c.325T>G (p.Leu109Val) rs1781471216
NM_013352.4(DSE):c.331A>G (p.Met111Val) rs866132678
NM_013352.4(DSE):c.33G>A (p.Val11=)
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
NM_013352.4(DSE):c.355A>C (p.Asn119His) rs1583172956
NM_013352.4(DSE):c.357C>T (p.Asn119=)
NM_013352.4(DSE):c.364G>A (p.Ala122Thr) rs1781474657
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
NM_013352.4(DSE):c.447C>T (p.Val149=)
NM_013352.4(DSE):c.480del (p.Ala161fs)
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr) rs76186865
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
NM_013352.4(DSE):c.611A>G (p.Asn204Ser) rs2115065124
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
NM_013352.4(DSE):c.670+18C>T
NM_013352.4(DSE):c.670+20A>G
NM_013352.4(DSE):c.681A>G (p.Gln227=)
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
NM_013352.4(DSE):c.714C>T (p.Thr238=)
NM_013352.4(DSE):c.718A>G (p.Met240Val)
NM_013352.4(DSE):c.780G>T (p.Ala260=)
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
NM_013352.4(DSE):c.78C>T (p.Asp26=) rs146524076
NM_013352.4(DSE):c.807C>T (p.Leu269=)
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
NM_013352.4(DSE):c.8C>A (p.Thr3Asn) rs1164317142
NM_013352.4(DSE):c.910+10G>A
NM_013352.4(DSE):c.910+8G>A
NM_013352.4(DSE):c.910+9A>C
NM_013352.4(DSE):c.945T>C (p.Asn315=)
NM_013352.4(DSE):c.966A>G (p.Pro322=)
NM_013352.4(DSE):c.975A>G (p.Gln325=)
NM_013352.4(DSE):c.981G>A (p.Val327=) rs951430479
NM_014918.5(CHSY1):c.1002G>T (p.Leu334=)
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) rs1320280755
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) rs1596419433
NM_014918.5(CHSY1):c.1167C>T (p.Asp389=)
NM_014918.5(CHSY1):c.1183A>G (p.Arg395Gly)
NM_014918.5(CHSY1):c.120G>C (p.Arg40=)
NM_014918.5(CHSY1):c.1213T>C (p.Leu405=)
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly) rs370806474
NM_014918.5(CHSY1):c.1296C>T (p.Ile432=)
NM_014918.5(CHSY1):c.1339T>C (p.Tyr447His)
NM_014918.5(CHSY1):c.138G>A (p.Glu46=)
NM_014918.5(CHSY1):c.1410C>T (p.His470=)
NM_014918.5(CHSY1):c.1412C>T (p.Ala471Val)
NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)
NM_014918.5(CHSY1):c.1548C>G (p.Pro516=)
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val) rs2039108667
NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met)
NM_014918.5(CHSY1):c.1689G>C (p.Gln563His)
NM_014918.5(CHSY1):c.1736A>G (p.Asp579Gly)
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)
NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser)
NM_014918.5(CHSY1):c.1890C>T (p.Cys630=)
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala) rs2039108011
NM_014918.5(CHSY1):c.1926G>A (p.Gln642=)
NM_014918.5(CHSY1):c.2022C>A (p.Pro674=)
NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp) rs747715647
NM_014918.5(CHSY1):c.2119G>A (p.Gly707Ser) rs773030000
NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val)
NM_014918.5(CHSY1):c.219C>A (p.Pro73=) rs373485537
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)
NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala)
NM_014918.5(CHSY1):c.2232C>T (p.His744=)
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn)
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg) rs2038208535
NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala)
NM_014918.5(CHSY1):c.2307G>A (p.Ser769=)
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala) rs556065115
NM_014918.5(CHSY1):c.2377A>G (p.Ser793Gly) rs960887600
NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu)
NM_014918.5(CHSY1):c.2403A>G (p.Thr801=)
NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser)
NM_014918.5(CHSY1):c.306C>A (p.Ala102=) rs753652939
NM_014918.5(CHSY1):c.320+20G>C rs2039105249
NM_014918.5(CHSY1):c.404C>A (p.Pro135Gln)
NM_014918.5(CHSY1):c.417G>A (p.Val139=)
NM_014918.5(CHSY1):c.432G>A (p.Pro144=)
NM_014918.5(CHSY1):c.469C>G (p.His157Asp)
NM_014918.5(CHSY1):c.469C>T (p.His157Tyr) rs2141275520
NM_014918.5(CHSY1):c.477C>T (p.His159=)
NM_014918.5(CHSY1):c.48C>A (p.Leu16=)
NM_014918.5(CHSY1):c.49G>A (p.Val17Ile)
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) rs138311444
NM_014918.5(CHSY1):c.574G>A (p.Glu192Lys)
NM_014918.5(CHSY1):c.576G>C (p.Glu192Asp)
NM_014918.5(CHSY1):c.580C>T (p.Leu194Phe)
NM_014918.5(CHSY1):c.582C>G (p.Leu194=) rs1475060155
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602
NM_014918.5(CHSY1):c.691G>T (p.Val231Leu) rs2038928981
NM_014918.5(CHSY1):c.727C>G (p.Leu243Val)
NM_014918.5(CHSY1):c.813T>C (p.Tyr271=)
NM_014918.5(CHSY1):c.816+10G>T
NM_014918.5(CHSY1):c.817-11T>C
NM_014918.5(CHSY1):c.817-11dup rs769105634
NM_014918.5(CHSY1):c.817-6T>G
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly) rs2038235884
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro) rs760263900
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr) rs1596419735
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) rs774636195
NM_016277.5(RAB23):c.105A>G (p.Thr35=) rs576194133
NM_016277.5(RAB23):c.108A>G (p.Lys36=)
NM_016277.5(RAB23):c.114C>T (p.Tyr38=) rs888229513
NM_016277.5(RAB23):c.126T>C (p.Ile42=)
NM_016277.5(RAB23):c.12A>G (p.Glu4=)
NM_016277.5(RAB23):c.132T>G (p.Val44=) rs2128004147
NM_016277.5(RAB23):c.139T>C (p.Leu47=)
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) rs1765602287
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
NM_016277.5(RAB23):c.155+11G>A
NM_016277.5(RAB23):c.155+11G>C
NM_016277.5(RAB23):c.155+17T>C
NM_016277.5(RAB23):c.155+8C>T rs2128004127
NM_016277.5(RAB23):c.156-14A>G
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.156-20_156-17del
NM_016277.5(RAB23):c.156-8T>C rs1593221684
NM_016277.5(RAB23):c.156-8T>G
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.156-9_156-8del
NM_016277.5(RAB23):c.165T>C (p.Asp55=)
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.177A>G (p.Arg59=)
NM_016277.5(RAB23):c.17del (p.Met6fs) rs1765608519
NM_016277.5(RAB23):c.186A>G (p.Leu62=) rs2128002898
NM_016277.5(RAB23):c.207G>A (p.Glu69=)
NM_016277.5(RAB23):c.21A>G (p.Glu7=)
NM_016277.5(RAB23):c.234C>T (p.Tyr78=) rs2128002860
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
NM_016277.5(RAB23):c.241+10A>G rs2128002855
NM_016277.5(RAB23):c.241+16T>G
NM_016277.5(RAB23):c.242-17_242-16insATTC
NM_016277.5(RAB23):c.242-20G>C
NM_016277.5(RAB23):c.242-31ATTG[4] rs45542438
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.242-6T>C rs2127998723
NM_016277.5(RAB23):c.242-7C>T
NM_016277.5(RAB23):c.261C>G (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.261C>T (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.273C>G (p.Thr91=)
NM_016277.5(RAB23):c.273C>T (p.Thr91=)
NM_016277.5(RAB23):c.279T>C (p.Asp93=)
NM_016277.5(RAB23):c.27C>T (p.Ala9=)
NM_016277.5(RAB23):c.285A>G (p.Glu95=) rs2127998702
NM_016277.5(RAB23):c.312A>G (p.Arg104=)
NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
NM_016277.5(RAB23):c.321A>C (p.Val107=)
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) rs748398827
NM_016277.5(RAB23):c.33G>A (p.Lys11=)
NM_016277.5(RAB23):c.357G>A (p.Val119=)
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.376C>T (p.Leu126=)
NM_016277.5(RAB23):c.387T>C (p.Ser129=) rs1593210265
NM_016277.5(RAB23):c.390T>C (p.Cys130=) rs2127998627
NM_016277.5(RAB23):c.398+18G>A
NM_016277.5(RAB23):c.398+9G>T rs376839366
NM_016277.5(RAB23):c.399-15T>A
NM_016277.5(RAB23):c.399-15dup
NM_016277.5(RAB23):c.399-7T>C
NM_016277.5(RAB23):c.399-9G>T rs1764963102
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter) rs2127998022
NM_016277.5(RAB23):c.426del (p.Arg142fs)
NM_016277.5(RAB23):c.429A>G (p.Leu143=) rs1186623990
NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
NM_016277.5(RAB23):c.435A>G (p.Leu145=) rs2127998004
NM_016277.5(RAB23):c.453A>C (p.Ser151=)
NM_016277.5(RAB23):c.474G>A (p.Val158=)
NM_016277.5(RAB23):c.481+16del
NM_016277.5(RAB23):c.481+17G>A
NM_016277.5(RAB23):c.481+18del
NM_016277.5(RAB23):c.481+19A>G
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.481+4A>C
NM_016277.5(RAB23):c.481+7T>A rs2127997989
NM_016277.5(RAB23):c.481+8A>C rs2127997988
NM_016277.5(RAB23):c.482-10T>C
NM_016277.5(RAB23):c.482-12T>G
NM_016277.5(RAB23):c.482-14T>G
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_016277.5(RAB23):c.482-20G>A
NM_016277.5(RAB23):c.482-20del
NM_016277.5(RAB23):c.482-7A>G rs1221714796
NM_016277.5(RAB23):c.482-8T>G rs1303194537
NM_016277.5(RAB23):c.48G>A (p.Gly16=)
NM_016277.5(RAB23):c.48G>T (p.Gly16=)
NM_016277.5(RAB23):c.495G>A (p.Leu165=)
NM_016277.5(RAB23):c.4T>C (p.Leu2=) rs1593223928
NM_016277.5(RAB23):c.507C>T (p.Tyr169=) rs1593207365
NM_016277.5(RAB23):c.510T>C (p.Leu170=) rs1764929463
NM_016277.5(RAB23):c.522dup (p.Gln175fs)
NM_016277.5(RAB23):c.525A>G (p.Gln175=)
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter) rs2127997677
NM_016277.5(RAB23):c.549A>G (p.Leu183=) rs2127997659
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_016277.5(RAB23):c.552G>C (p.Thr184=) rs201731610
NM_016277.5(RAB23):c.552G>T (p.Thr184=)
NM_016277.5(RAB23):c.574+20T>G
NM_016277.5(RAB23):c.574+7A>G
NM_016277.5(RAB23):c.575-12C>A
NM_016277.5(RAB23):c.575-15C>T
NM_016277.5(RAB23):c.575-5T>A
NM_016277.5(RAB23):c.575-7T>A rs2127996399
NM_016277.5(RAB23):c.575-8_575-5dup rs1429640163
NM_016277.5(RAB23):c.576T>G (p.Gly192=) rs2127996390
NM_016277.5(RAB23):c.57A>C (p.Ala19=)
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe) rs2127996379
NM_016277.5(RAB23):c.5del (p.Leu2fs) rs1593223920
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
NM_016277.5(RAB23):c.60T>G (p.Val20=) rs2128004188
NM_016277.5(RAB23):c.642C>T (p.Val214=) rs1593204004
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487
NM_016277.5(RAB23):c.82del (p.Arg28fs) rs2128004184
NM_016277.5(RAB23):c.90C>T (p.Cys30=)
NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys)
NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=)
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp)
NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs) rs1843317673
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.1047C>T (p.Thr349=)
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)
NM_017617.5(NOTCH1):c.1059T>C (p.Arg353=)
NM_017617.5(NOTCH1):c.105G>C (p.Gly35=)
NM_017617.5(NOTCH1):c.1062G>C (p.Val354=)
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe) rs1843316270
NM_017617.5(NOTCH1):c.1068C>T (p.Ser356=)
NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)
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.1099+1G>T
NM_017617.5(NOTCH1):c.1100-16G>A rs146815871
NM_017617.5(NOTCH1):c.1100-17C>T rs373481386
NM_017617.5(NOTCH1):c.1100-4C>T rs1297218175
NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) rs1564199987
NM_017617.5(NOTCH1):c.1110C>T (p.Cys370=)
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=)
NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=)
NM_017617.5(NOTCH1):c.1239G>A (p.Val413=)
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) rs1843307597
NM_017617.5(NOTCH1):c.1251G>C (p.Ser417=)
NM_017617.5(NOTCH1):c.1255+10dup
NM_017617.5(NOTCH1):c.1255+13dup
NM_017617.5(NOTCH1):c.1255+14C>T
NM_017617.5(NOTCH1):c.1255+19G>A
NM_017617.5(NOTCH1):c.1255+19G>T
NM_017617.5(NOTCH1):c.1255+20G>T
NM_017617.5(NOTCH1):c.1256-10C>T
NM_017617.5(NOTCH1):c.1256-13G>T
NM_017617.5(NOTCH1):c.1256-15G>T
NM_017617.5(NOTCH1):c.1256-16C>T
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1256-9C>G rs1401233481
NM_017617.5(NOTCH1):c.1256-9C>T
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) rs762533002
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val)
NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=) rs1466608110
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg) rs200562991
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.1347C>T (p.Cys449=)
NM_017617.5(NOTCH1):c.1350G>A (p.Glu450=)
NM_017617.5(NOTCH1):c.1353C>T (p.Ile451=)
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys)
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe)
NM_017617.5(NOTCH1):c.1371C>T (p.Val457=) rs1463940681
NM_017617.5(NOTCH1):c.1373C>T (p.Ser458Leu)
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=) rs886039016
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg)
NM_017617.5(NOTCH1):c.1386G>A (p.Gln462=) rs2133368484
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) rs1564199476
NM_017617.5(NOTCH1):c.140+11C>A
NM_017617.5(NOTCH1):c.140+14C>T
NM_017617.5(NOTCH1):c.140+15T>G
NM_017617.5(NOTCH1):c.140+20del rs751297042
NM_017617.5(NOTCH1):c.140+9C>G
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser)
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+11C>T rs376506127
NM_017617.5(NOTCH1):c.1441+11del
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) rs1448146225
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1442-17_1442-16del
NM_017617.5(NOTCH1):c.1442-3C>T rs1589067790
NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val) rs2133367544
NM_017617.5(NOTCH1):c.1467C>G (p.Val489=)
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.1483G>A (p.Ala495Thr)
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.1527C>T (p.Ile509=) rs2133367383
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp)
NM_017617.5(NOTCH1):c.1530T>C (p.Asn510=)
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His) rs747069934
NM_017617.5(NOTCH1):c.1543G>A (p.Glu515Lys) rs749085650
NM_017617.5(NOTCH1):c.1551C>A (p.Pro517=)
NM_017617.5(NOTCH1):c.1555+11C>T
NM_017617.5(NOTCH1):c.1555+13C>G
NM_017617.5(NOTCH1):c.1555+17C>T rs760877301
NM_017617.5(NOTCH1):c.1555+5G>A
NM_017617.5(NOTCH1):c.1555+6G>A
NM_017617.5(NOTCH1):c.1556-17C>A
NM_017617.5(NOTCH1):c.1556-19C>T rs970722201
NM_017617.5(NOTCH1):c.1556-20C>G rs1268079353
NM_017617.5(NOTCH1):c.1556-23TCCCC[2]
NM_017617.5(NOTCH1):c.1556-23TCCCC[4] rs747100045
NM_017617.5(NOTCH1):c.1556-23_1556-20del
NM_017617.5(NOTCH1):c.1556-4C>T rs2133365542
NM_017617.5(NOTCH1):c.1556-8G>T rs776434236
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg)
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)
NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=) rs1304388033
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn)
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg)
NM_017617.5(NOTCH1):c.1627_1669+11del
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His)
NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu)
NM_017617.5(NOTCH1):c.1652C>T (p.Thr551Ile)
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.1669+9_1669+10inv
NM_017617.5(NOTCH1):c.1670-10_1670-9inv
NM_017617.5(NOTCH1):c.1670-11C>T
NM_017617.5(NOTCH1):c.1670-7G>A
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu)
NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln)
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
NM_017617.5(NOTCH1):c.168A>G (p.Arg56=)
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>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met) rs773932034
NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn) rs562413261
NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr)
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1713C>T (p.Asp571=)
NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His)
NM_017617.5(NOTCH1):c.1719C>T (p.Asp573=)
NM_017617.5(NOTCH1):c.1740C>T (p.Cys580=)
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=)
NM_017617.5(NOTCH1):c.1752C>T (p.Val584=) rs902251832
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1755C>T (p.Ala585=)
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.1768C>T (p.Leu590Phe)
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg)
NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=) rs949220276
NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs) rs2133363840
NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr)
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr) rs1589066307
NM_017617.5(NOTCH1):c.1794C>T (p.His598=) rs1261287469
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.1800_1801dup (p.Glu601fs) rs1843252720
NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=)
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys) rs781029850
NM_017617.5(NOTCH1):c.1821C>T (p.Cys607=)
NM_017617.5(NOTCH1):c.1830G>A (p.Gln610=) rs2133363599
NM_017617.5(NOTCH1):c.1848C>A (p.Gly616=)
NM_017617.5(NOTCH1):c.1851C>T (p.Thr617=) rs761199261
NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=)
NM_017617.5(NOTCH1):c.1857G>A (p.Gln619=)
NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly) rs774622686
NM_017617.5(NOTCH1):c.186G>A (p.Pro62=) rs374320445
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.1899C>G (p.Thr633=)
NM_017617.5(NOTCH1):c.1903+14C>G
NM_017617.5(NOTCH1):c.1903+15G>A
NM_017617.5(NOTCH1):c.1903+6C>G
NM_017617.5(NOTCH1):c.1903+7G>A rs760116150
NM_017617.5(NOTCH1):c.1903+7G>T rs760116150
NM_017617.5(NOTCH1):c.1904-15G>A
NM_017617.5(NOTCH1):c.1904-16C>A
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.1904-17A>C
NM_017617.5(NOTCH1):c.1904-20G>A
NM_017617.5(NOTCH1):c.1904-20G>C
NM_017617.5(NOTCH1):c.1904-3C>T rs748118679
NM_017617.5(NOTCH1):c.1904-9C>T rs2133362915
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser)
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
NM_017617.5(NOTCH1):c.1923C>T (p.Asn641=)
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr)
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser)
NM_017617.5(NOTCH1):c.1959C>A (p.Gly653=) rs776402525
NM_017617.5(NOTCH1):c.1961C>T (p.Thr654Ile) rs765651994
NM_017617.5(NOTCH1):c.1966C>T (p.Leu656=) rs776930100
NM_017617.5(NOTCH1):c.1971C>T (p.Asp657=) rs1843246881
NM_017617.5(NOTCH1):c.1977C>T (p.Ile659=) rs766577980
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn) rs368996332
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly)
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser)
NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=)
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.2014+10C>A rs1589065951
NM_017617.5(NOTCH1):c.2014+10C>T
NM_017617.5(NOTCH1):c.2014+11C>T rs1348123089
NM_017617.5(NOTCH1):c.2014+17G>A
NM_017617.5(NOTCH1):c.2014+17G>T
NM_017617.5(NOTCH1):c.2014+8G>A
NM_017617.5(NOTCH1):c.2015-10C>T
NM_017617.5(NOTCH1):c.2015-11C>T
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2015-2A>G
NM_017617.5(NOTCH1):c.2015-2del rs2133361331
NM_017617.5(NOTCH1):c.201C>A (p.Pro67=) rs764636339
NM_017617.5(NOTCH1):c.2026A>T (p.Asn676Tyr)
NM_017617.5(NOTCH1):c.2033A>G (p.Asn678Ser)
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly) rs2133361218
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys)
NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=)
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.2056C>T (p.Pro686Ser)
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser)
NM_017617.5(NOTCH1):c.20C>T (p.Pro7Leu) rs1554733804
NM_017617.5(NOTCH1):c.2103C>A (p.Thr701=)
NM_017617.5(NOTCH1):c.2103C>G (p.Thr701=)
NM_017617.5(NOTCH1):c.2118G>A (p.Glu706=)
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.2157G>A (p.Glu719=)
NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=)
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile)
NM_017617.5(NOTCH1):c.2181C>T (p.His727=)
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.2207+19C>G
NM_017617.5(NOTCH1):c.2208-10C>T
NM_017617.5(NOTCH1):c.2208-11C>G
NM_017617.5(NOTCH1):c.2208-14G>C
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe)
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr)
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>A (p.Gly766Ser)
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.2318G>T (p.Ser773Ile)
NM_017617.5(NOTCH1):c.2319_2354-74del rs2133358321
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del)
NM_017617.5(NOTCH1):c.2328G>A (p.Val776=)
NM_017617.5(NOTCH1):c.232G>A (p.Asp78Asn)
NM_017617.5(NOTCH1):c.2333C>T (p.Thr778Ile)
NM_017617.5(NOTCH1):c.2334C>T (p.Thr778=) rs1246624794
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser)
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2346C>A (p.Gly782=)
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
NM_017617.5(NOTCH1):c.2353+11T>A
NM_017617.5(NOTCH1):c.2353+16G>A
NM_017617.5(NOTCH1):c.2353+20C>G
NM_017617.5(NOTCH1):c.2354-16G>A
NM_017617.5(NOTCH1):c.2354-8C>T rs779665060
NM_017617.5(NOTCH1):c.2354-9T>C
NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile)
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
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.2387C>T (p.Ala796Val)
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser) rs2133358091
NM_017617.5(NOTCH1):c.240A>G (p.Arg80=)
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg)
NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met)
NM_017617.5(NOTCH1):c.2415G>A (p.Thr805=) rs774284462
NM_017617.5(NOTCH1):c.2415G>C (p.Thr805=) rs774284462
NM_017617.5(NOTCH1):c.2415G>T (p.Thr805=)
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.2424C>T (p.Asp808=)
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.2439C>T (p.Tyr813=) rs1057515422
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290
NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser)
NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=) rs1422745093
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs) rs1589064285
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.2460C>G (p.Pro820=)
NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=)
NM_017617.5(NOTCH1):c.2467+17dup
NM_017617.5(NOTCH1):c.2467+7G>T rs1843207149
NM_017617.5(NOTCH1):c.2468-10C>T rs2133355112
NM_017617.5(NOTCH1):c.2468-5C>A rs932196144
NM_017617.5(NOTCH1):c.2468-5C>T
NM_017617.5(NOTCH1):c.2468-6C>G
NM_017617.5(NOTCH1):c.2475G>A (p.Thr825=) rs766045141
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) rs760376139
NM_017617.5(NOTCH1):c.2481G>A (p.Glu827=)
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr)
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
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.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) rs754554370
NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg)
NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=)
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=) rs1191070636
NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=)
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.2574C>T (p.Pro858=) rs1589063028
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=) rs761604720
NM_017617.5(NOTCH1):c.2587+19C>G rs577190264
NM_017617.5(NOTCH1):c.2587+19C>T
NM_017617.5(NOTCH1):c.2587+1G>T
NM_017617.5(NOTCH1):c.2588-11C>G
NM_017617.5(NOTCH1):c.2588-17del
NM_017617.5(NOTCH1):c.2588-20G>A rs371359766
NM_017617.5(NOTCH1):c.2588-20G>C
NM_017617.5(NOTCH1):c.2588-7C>T
NM_017617.5(NOTCH1):c.258C>G (p.Ala86=)
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile)
NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=)
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=)
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met)
NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly)
NM_017617.5(NOTCH1):c.2631G>C (p.Pro877=)
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.2661C>T (p.Thr887=)
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val) rs1554728783
NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=)
NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=)
NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg)
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly)
NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=) rs373306460
NM_017617.5(NOTCH1):c.2685C>T (p.Cys895=) rs2133353146
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.271C>T (p.Leu91=)
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro)
NM_017617.5(NOTCH1):c.2740+12C>A
NM_017617.5(NOTCH1):c.2740+12C>G
NM_017617.5(NOTCH1):c.2740+13G>A
NM_017617.5(NOTCH1):c.2740+15G>A
NM_017617.5(NOTCH1):c.2740+16del
NM_017617.5(NOTCH1):c.2740+17C>T
NM_017617.5(NOTCH1):c.2740+18T>C
NM_017617.5(NOTCH1):c.2741-12G>C
NM_017617.5(NOTCH1):c.2741-17C>T
NM_017617.5(NOTCH1):c.2741-6T>A rs2133351503
NM_017617.5(NOTCH1):c.2741-7C>T
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=) rs1843152166
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp)
NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val)
NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp) rs1218875928
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.2794G>A (p.Asp932Asn)
NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=)
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg)
NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=) rs2133351104
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val)
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del)
NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=)
NM_017617.5(NOTCH1):c.2844G>A (p.Glu948=) rs2133350962
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.2854G>C (p.Asp952His)
NM_017617.5(NOTCH1):c.2859C>T (p.Pro953=) rs2133350864
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) rs557049479
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys) rs760227470
NM_017617.5(NOTCH1):c.2871G>T (p.Gly957=)
NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)
NM_017617.5(NOTCH1):c.2883G>A (p.Thr961=)
NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=) rs774785001
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly)
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
NM_017617.5(NOTCH1):c.2919A>G (p.Ala973=) rs766105850
NM_017617.5(NOTCH1):c.2922C>T (p.Gly974=) rs1380594425
NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=)
NM_017617.5(NOTCH1):c.2931G>C (p.Gly977=) rs767071793
NM_017617.5(NOTCH1):c.2935C>T (p.His979Tyr) rs1380298048
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=)
NM_017617.5(NOTCH1):c.2958C>T (p.Asp986=) rs775739575
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.2969+13C>G
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.2969+9G>A
NM_017617.5(NOTCH1):c.2970-10C>T rs2133349102
NM_017617.5(NOTCH1):c.2970-20G>T rs367927174
NM_017617.5(NOTCH1):c.2970-5T>G
NM_017617.5(NOTCH1):c.2970-7C>T
NM_017617.5(NOTCH1):c.2970-7del rs34868738
NM_017617.5(NOTCH1):c.2970-9C>G
NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=)
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile)
NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=)
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser)
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr) rs746491686
NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=)
NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=)
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=) rs2133348920
NM_017617.5(NOTCH1):c.304C>T (p.Leu102=)
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg) rs2133379239
NM_017617.5(NOTCH1):c.3060C>T (p.His1020=)
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
NM_017617.5(NOTCH1):c.3067A>G (p.Asn1023Asp)
NM_017617.5(NOTCH1):c.3087C>A (p.Pro1029=)
NM_017617.5(NOTCH1):c.3087C>T (p.Pro1029=)
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.3129C>T (p.Tyr1043=) rs752650941
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.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile)
NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=)
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys) rs1431940702
NM_017617.5(NOTCH1):c.3171+11C>T
NM_017617.5(NOTCH1):c.3171+14C>G
NM_017617.5(NOTCH1):c.3171+3G>A
NM_017617.5(NOTCH1):c.3171+6del
NM_017617.5(NOTCH1):c.3172-14C>T
NM_017617.5(NOTCH1):c.3172-4C>G
NM_017617.5(NOTCH1):c.3172-4C>T
NM_017617.5(NOTCH1):c.3172-5C>G
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr) rs766126767
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu)
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.3261C>A (p.Ser1087Arg)
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp)
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys)
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3291C>T (p.Pro1097=) rs1234909362
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met)
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu)
NM_017617.5(NOTCH1):c.3300C>G (p.Ser1100=) rs1484716795
NM_017617.5(NOTCH1):c.3312T>A (p.Ala1104=) rs2133347063
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3325+10T>C rs1060504526
NM_017617.5(NOTCH1):c.3325+18C>T rs762473735
NM_017617.5(NOTCH1):c.3326-13C>A
NM_017617.5(NOTCH1):c.3326-14C>G
NM_017617.5(NOTCH1):c.3326-15C>A rs371180086
NM_017617.5(NOTCH1):c.3326-8C>T rs2133346689
NM_017617.5(NOTCH1):c.3326-9C>T rs994509635
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala) rs772310059
NM_017617.5(NOTCH1):c.3327T>C (p.Gly1109=)
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro)
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) rs752440904
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.335G>T (p.Arg112Leu)
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.3372C>T (p.Asp1124=) rs530959956
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser)
NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)
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.3417C>T (p.Gly1139=) rs753526994
NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=)
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>A (p.Gln1155=)
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
NM_017617.5(NOTCH1):c.3495C>A (p.Gly1165=)
NM_017617.5(NOTCH1):c.3504C>G (p.Ser1168=)
NM_017617.5(NOTCH1):c.3504C>T (p.Ser1168=) rs1475139232
NM_017617.5(NOTCH1):c.3510+11C>T rs1057524613
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.3510+9C>T
NM_017617.5(NOTCH1):c.3511-13G>A
NM_017617.5(NOTCH1):c.3511-15C>G
NM_017617.5(NOTCH1):c.3511-18G>A
NM_017617.5(NOTCH1):c.3511-18G>T rs780629106
NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser) rs1272399533
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn) rs745590123
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.3542C>T (p.Ser1181Phe)
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del) rs1370411882
NM_017617.5(NOTCH1):c.3547G>A (p.Glu1183Lys) rs1300209111
NM_017617.5(NOTCH1):c.3549G>A (p.Glu1183=) rs760814014
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
NM_017617.5(NOTCH1):c.354C>T (p.Asp118=)
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.3579G>A (p.Gln1193=) rs61751544
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3585G>A (p.Gly1195=) rs1843105001
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.3643+16C>T
NM_017617.5(NOTCH1):c.3644-14A>G
NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr) rs1327576450
NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=)
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr)
NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser)
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.3693C>G (p.Pro1231=)
NM_017617.5(NOTCH1):c.36G>T (p.Ala12=) rs1843806561
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu)
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu) rs1478449371
NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val)
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.3768G>T (p.Pro1256=) rs779987984
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.3788G>T (p.Arg1263Leu)
NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=)
NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=)
NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=) rs2133343514
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) rs1406056612
NM_017617.5(NOTCH1):c.3833C>T (p.Ala1278Val)
NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu)
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp) rs377289044
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) 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.387C>T (p.Cys129=)
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.3891T>C (p.Ala1297=)
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=)
NM_017617.5(NOTCH1):c.3901+11C>T
NM_017617.5(NOTCH1):c.3901+20G>A
NM_017617.5(NOTCH1):c.3901+4G>A
NM_017617.5(NOTCH1):c.3901+5G>A
NM_017617.5(NOTCH1):c.3901+9C>A
NM_017617.5(NOTCH1):c.3902-5C>T
NM_017617.5(NOTCH1):c.3902-6C>T rs1226411358
NM_017617.5(NOTCH1):c.3902-7C>T
NM_017617.5(NOTCH1):c.3907C>T (p.Arg1303Cys)
NM_017617.5(NOTCH1):c.390G>C (p.Pro130=)
NM_017617.5(NOTCH1):c.390G>T (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3912C>T (p.Cys1304=)
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln)
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile)
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.3977C>T (p.Ser1326Phe)
NM_017617.5(NOTCH1):c.3984C>T (p.Thr1328=)
NM_017617.5(NOTCH1):c.3985G>A (p.Ala1329Thr) rs763098618
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.4015-19T>C
NM_017617.5(NOTCH1):c.4015-6G>A
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4020C>T (p.Phe1340=)
NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys)
NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp)
NM_017617.5(NOTCH1):c.4026C>T (p.Gly1342=)
NM_017617.5(NOTCH1):c.4029C>A (p.Ala1343=) rs969014492
NM_017617.5(NOTCH1):c.403+14C>T
NM_017617.5(NOTCH1):c.403+16C>T
NM_017617.5(NOTCH1):c.403+19C>T
NM_017617.5(NOTCH1):c.403+3G>A
NM_017617.5(NOTCH1):c.403+3del rs2133378865
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg) rs201215245
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4032G>A (p.Thr1344=)
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.404-6C>G
NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=)
NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr) rs553328686
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His) rs150343794
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) rs150343794
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4053C>A (p.Thr1351=) rs1267241464
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) rs1274662962
NM_017617.5(NOTCH1):c.405G>A (p.Gly135=)
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro) rs1589059022
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) rs1564191302
NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser)
NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr)
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg) rs778270588
NM_017617.5(NOTCH1):c.4098C>G (p.Gly1366=) rs2133340927
NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)
NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu)
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=) rs560826996
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs) rs1589058964
NM_017617.5(NOTCH1):c.4128C>G (p.Gly1376=) rs1292953898
NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu) rs1843073620
NM_017617.5(NOTCH1):c.4137G>C (p.Thr1379=) rs762733162
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.4144G>A (p.Glu1382Lys)
NM_017617.5(NOTCH1):c.4149C>T (p.Cys1383=) rs1843072777
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg) rs2133340569
NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu)
NM_017617.5(NOTCH1):c.4173C>T (p.Cys1391=) rs1589058923
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)
NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp)
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)
NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=) rs2133340344
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser) rs1416597670
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu)
NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=)
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser)
NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys) rs2133340251
NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=)
NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys) rs1348438354
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=)
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val) rs1363126385
NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=) rs2133339971
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276
NM_017617.5(NOTCH1):c.428del (p.Pro143fs) rs2133377982
NM_017617.5(NOTCH1):c.4297G>A (p.Gly1433Arg)
NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg) rs751904604
NM_017617.5(NOTCH1):c.429G>T (p.Pro143=) rs757406877
NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala) rs1247192040
NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=)
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser) rs746077264
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr)
NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=)
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser)
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val)
NM_017617.5(NOTCH1):c.4356C>A (p.Pro1452=)
NM_017617.5(NOTCH1):c.4362C>T (p.Cys1454=) rs944984360
NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter) rs2133339552
NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)
NM_017617.5(NOTCH1):c.436_450dup (p.Ala150_Asn151insSerAsnProCysAla)
NM_017617.5(NOTCH1):c.4374G>C (p.Ala1458=)
NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=)
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn) rs2133339457
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile)
NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=)
NM_017617.5(NOTCH1):c.438C>T (p.Ser146=) rs1589072128
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val) rs779863069
NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter) rs2133339381
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.4443C>T (p.Leu1481=) rs2133339138
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.4470C>T (p.Cys1490=)
NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro)
NM_017617.5(NOTCH1):c.4480C>T (p.Leu1494=)
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg)
NM_017617.5(NOTCH1):c.4482G>A (p.Leu1494=)
NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=)
NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter) rs1036363986
NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)
NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=) rs1843064502
NM_017617.5(NOTCH1):c.44C>G (p.Pro15Arg)
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser)
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.4548C>G (p.Phe1516Leu)
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=) rs1057523575
NM_017617.5(NOTCH1):c.456T>C (p.Gly152=) rs1044385750
NM_017617.5(NOTCH1):c.4586+11G>A
NM_017617.5(NOTCH1):c.4586+11G>C rs777578180
NM_017617.5(NOTCH1):c.4586+14G>A
NM_017617.5(NOTCH1):c.4586+17C>T
NM_017617.5(NOTCH1):c.4586+6G>T
NM_017617.5(NOTCH1):c.4587-10C>A
NM_017617.5(NOTCH1):c.4587-10C>T
NM_017617.5(NOTCH1):c.4587-10dup rs766780122
NM_017617.5(NOTCH1):c.4587-12C>T
NM_017617.5(NOTCH1):c.4587-18G>A
NM_017617.5(NOTCH1):c.4587-1G>T
NM_017617.5(NOTCH1):c.4587-4A>G rs2133337921
NM_017617.5(NOTCH1):c.4587-5C>G
NM_017617.5(NOTCH1):c.4587-5C>T
NM_017617.5(NOTCH1):c.4587-8C>A rs1470543120
NM_017617.5(NOTCH1):c.4590C>G (p.Pro1530=) rs1357545431
NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=)
NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn)
NM_017617.5(NOTCH1):c.45C>T (p.Pro15=) rs764936481
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr)
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn) rs1339004050
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.4659G>A (p.Glu1553=)
NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala) rs781602537
NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val)
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met)
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu)
NM_017617.5(NOTCH1):c.4692T>C (p.His1564=)
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) rs1333725995
NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=) rs2133337220
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.4749G>A (p.Glu1583=)
NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=)
NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln)
NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys)
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=) rs777947269
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.4780C>T (p.Arg1594Trp)
NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=) rs2133336800
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr)
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile) rs1564190486
NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=)
NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=) rs558708604
NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=)
NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg) rs2133336705
NM_017617.5(NOTCH1):c.4806C>G (p.Thr1602=)
NM_017617.5(NOTCH1):c.480C>T (p.Ala160=) rs762389418
NM_017617.5(NOTCH1):c.4812G>C (p.Val1604=)
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala)
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.4836C>T (p.Gly1612=)
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del)
NM_017617.5(NOTCH1):c.4857C>T (p.Tyr1619=)
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys)
NM_017617.5(NOTCH1):c.4861G>A (p.Gly1621Ser)
NM_017617.5(NOTCH1):c.4864C>T (p.Arg1622Cys)
NM_017617.5(NOTCH1):c.4866C>G (p.Arg1622=) rs772314400
NM_017617.5(NOTCH1):c.486C>T (p.Tyr162=)
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln) rs1843052920
NM_017617.5(NOTCH1):c.4878G>A (p.Leu1626=)
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=)
NM_017617.5(NOTCH1):c.4890C>T (p.Pro1630=)
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser)
NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=)
NM_017617.5(NOTCH1):c.4902C>T (p.Ala1634=)
NM_017617.5(NOTCH1):c.4903G>A (p.Ala1635Thr)
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp) rs1275439825
NM_017617.5(NOTCH1):c.4911C>G (p.Gly1637=)
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) rs878855026
NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=)
NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=)
NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro)
NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=)
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro)
NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=)
NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=)
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=) rs1589058142
NM_017617.5(NOTCH1):c.4953G>A (p.Ser1651=) rs761306198
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=) rs761306198
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del)
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His) rs1381525257
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln)
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.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5018+12C>T rs1225398496
NM_017617.5(NOTCH1):c.5018+5G>A
NM_017617.5(NOTCH1):c.5018+6_5018+9del
NM_017617.5(NOTCH1):c.5019-10G>A
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5019-18C>T
NM_017617.5(NOTCH1):c.5019-20CT[2] rs748274615
NM_017617.5(NOTCH1):c.5019-3C>T
NM_017617.5(NOTCH1):c.5019-9T>C rs1589057393
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=)
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile) rs1261408162
NM_017617.5(NOTCH1):c.5032C>T (p.Leu1678=)
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly)
NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=)
NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His) rs61751538
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr) rs1443819558
NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr)
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
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.513T>C (p.His171=)
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val) rs2133333190
NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=)
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+18C>A
NM_017617.5(NOTCH1):c.5167+19C>G rs751046078
NM_017617.5(NOTCH1):c.5167+20G>A
NM_017617.5(NOTCH1):c.5167+3A>G rs1025172473
NM_017617.5(NOTCH1):c.5168-16G>A rs2133331940
NM_017617.5(NOTCH1):c.5168-18del
NM_017617.5(NOTCH1):c.5168-20C>T
NM_017617.5(NOTCH1):c.5168-5C>G
NM_017617.5(NOTCH1):c.5168-7C>T rs1589056781
NM_017617.5(NOTCH1):c.5168-8G>A rs781506247
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn)
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met)
NM_017617.5(NOTCH1):c.5181G>A (p.Glu1727=)
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp) rs1843014055
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val) rs768040014
NM_017617.5(NOTCH1):c.5196G>A (p.Ala1732=)
NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln) rs780546252
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=)
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro) rs771225163
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile)
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5227G>A (p.Ala1743Thr)
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly)
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp)
NM_017617.5(NOTCH1):c.5256C>T (p.Cys1752=)
NM_017617.5(NOTCH1):c.525C>T (p.Cys175=)
NM_017617.5(NOTCH1):c.5266C>T (p.Leu1756=) rs746342953
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe) rs1843012177
NM_017617.5(NOTCH1):c.5272C>T (p.Arg1758Cys)
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) rs1564203258
NM_017617.5(NOTCH1):c.5281C>T (p.Arg1761Trp)
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.5298G>A (p.Gln1766=)
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val)
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)
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.5333C>T (p.Ala1778Val)
NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg)
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.5358C>T (p.Pro1786=)
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser) rs1843010334
NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=) rs2133330858
NM_017617.5(NOTCH1):c.5384+8G>A
NM_017617.5(NOTCH1):c.5385-10C>T rs2133330224
NM_017617.5(NOTCH1):c.5385-17G>A rs746960421
NM_017617.5(NOTCH1):c.5385-2dup
NM_017617.5(NOTCH1):c.5385-3C>T
NM_017617.5(NOTCH1):c.5385-7C>T
NM_017617.5(NOTCH1):c.5385-9A>G rs2133330218
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser)
NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=)
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp)
NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=)
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.5427C>T (p.Asn1809=)
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys) rs1843005451
NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser)
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly)
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
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.5472+15T>A
NM_017617.5(NOTCH1):c.5472+16C>T
NM_017617.5(NOTCH1):c.5472+18C>A
NM_017617.5(NOTCH1):c.5472+18C>G
NM_017617.5(NOTCH1):c.5472+19G>A
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5472+7C>T
NM_017617.5(NOTCH1):c.5472+8G>T
NM_017617.5(NOTCH1):c.5473-12C>T
NM_017617.5(NOTCH1):c.5473-15A>C
NM_017617.5(NOTCH1):c.5475C>T (p.Phe1825=)
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.5502G>C (p.Leu1834=) rs1259279311
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu)
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter) rs1589072024
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg)
NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=)
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) rs878855027
NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln)
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro) rs1843001736
NM_017617.5(NOTCH1):c.5557C>T (p.Leu1853=)
NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=)
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
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.5571C>T (p.Ala1857=)
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.5605G>A (p.Ala1869Thr) rs200603539
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) rs200603539
NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=)
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe)
NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile)
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
NM_017617.5(NOTCH1):c.5638+19A>C
NM_017617.5(NOTCH1):c.5639-10G>C rs1842984290
NM_017617.5(NOTCH1):c.5639-14C>T
NM_017617.5(NOTCH1):c.5639-16G>A
NM_017617.5(NOTCH1):c.5639-19C>A
NM_017617.5(NOTCH1):c.5639-7T>C rs1842984230
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu) rs545259523
NM_017617.5(NOTCH1):c.5661C>T (p.Ile1887=) rs750185397
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.5680G>A (p.Gly1894Ser)
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=) rs1060504521
NM_017617.5(NOTCH1):c.5691G>A (p.Thr1897=) rs373612059
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.569G>A (p.Arg190His) rs761616770
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp)
NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val)
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro) rs2133326413
NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=)
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)
NM_017617.5(NOTCH1):c.5742C>T (p.Ile1914=)
NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=) rs752199771
NM_017617.5(NOTCH1):c.5751C>T (p.Gly1917=)
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.5772A>C (p.Thr1924=)
NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu) rs771407924
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.5814C>T (p.Tyr1938=)
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=)
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.5906dup (p.Ser1970fs)
NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=)
NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=) rs781224907
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys)
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
NM_017617.5(NOTCH1):c.5934+10G>A
NM_017617.5(NOTCH1):c.5934+12C>G
NM_017617.5(NOTCH1):c.5934+20G>A
NM_017617.5(NOTCH1):c.5934+6C>T
NM_017617.5(NOTCH1):c.5935-19G>A
NM_017617.5(NOTCH1):c.5944C>A (p.Arg1982=)
NM_017617.5(NOTCH1):c.5944C>T (p.Arg1982Trp)
NM_017617.5(NOTCH1):c.5952A>G (p.Arg1984=)
NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=)
NM_017617.5(NOTCH1):c.5965G>C (p.Asp1989His)
NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=)
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu) rs1554733799
NM_017617.5(NOTCH1):c.6000C>G (p.Ile2000Met)
NM_017617.5(NOTCH1):c.6009C>T (p.Ala2003=)
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys) rs1589054589
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.6019G>A (p.Val2007Met)
NM_017617.5(NOTCH1):c.6026G>A (p.Gly2009Asp)
NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=) rs1232741465
NM_017617.5(NOTCH1):c.6029T>C (p.Met2010Thr) rs2133322772
NM_017617.5(NOTCH1):c.6054C>A (p.His2018Gln) rs202198360
NM_017617.5(NOTCH1):c.6055G>A (p.Ala2019Thr)
NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=)
NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=) rs1589054533
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)
NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=)
NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile)
NM_017617.5(NOTCH1):c.6072A>T (p.Val2024=)
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys)
NM_017617.5(NOTCH1):c.6082+11G>A
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.6083-16T>G
NM_017617.5(NOTCH1):c.6083-3C>T
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6090C>G (p.Ser2030=)
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) rs1060504525
NM_017617.5(NOTCH1):c.6096G>A (p.Leu2032=) rs2133321884
NM_017617.5(NOTCH1):c.61+17C>T
NM_017617.5(NOTCH1):c.61+18C>A
NM_017617.5(NOTCH1):c.61+19G>A rs957002412
NM_017617.5(NOTCH1):c.61+8C>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.6111C>A (p.Ala2037=)
NM_017617.5(NOTCH1):c.6116A>G (p.Asn2039Ser)
NM_017617.5(NOTCH1):c.6117C>T (p.Asn2039=) rs2133321780
NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=) rs563053477
NM_017617.5(NOTCH1):c.6130G>T (p.Ala2044Ser)
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=) rs920077656
NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala) rs1374171839
NM_017617.5(NOTCH1):c.6138G>A (p.Val2046=)
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu)
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.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6157A>G (p.Asn2053Asp)
NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp)
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+11G>T
NM_017617.5(NOTCH1):c.6180+13C>A rs1303958303
NM_017617.5(NOTCH1):c.6180+19T>C
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.6180+9G>C
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6181-12C>G
NM_017617.5(NOTCH1):c.6181-16C>T
NM_017617.5(NOTCH1):c.6181-5C>G
NM_017617.5(NOTCH1):c.6181-7C>G
NM_017617.5(NOTCH1):c.6192C>T (p.Pro2064=)
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys)
NM_017617.5(NOTCH1):c.6198T>C (p.Phe2066=)
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys)
NM_017617.5(NOTCH1):c.62-14C>T rs1426366565
NM_017617.5(NOTCH1):c.62-15_62-13del
NM_017617.5(NOTCH1):c.62-16T>G rs1164452688
NM_017617.5(NOTCH1):c.62-17C>G
NM_017617.5(NOTCH1):c.62-3T>C rs2133406300
NM_017617.5(NOTCH1):c.62-4C>T
NM_017617.5(NOTCH1):c.62-5C>A
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.6234G>A (p.Lys2078=) rs1485488069
NM_017617.5(NOTCH1):c.6252T>C (p.Phe2084=)
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly) rs1215496202
NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val)
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.6291G>T (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys)
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)
NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=) rs773483690
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.6349A>T (p.Asn2117Tyr)
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn) rs761054017
NM_017617.5(NOTCH1):c.6363C>G (p.Ser2121Arg)
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg)
NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg)
NM_017617.5(NOTCH1):c.636C>T (p.Gly212=) rs1843397551
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr) rs2133318919
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln) rs369009290
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser)
NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=)
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=) rs1390112624
NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
NM_017617.5(NOTCH1):c.6402C>T (p.Thr2134=) rs2133318771
NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=)
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs) rs1842932983
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)
NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser)
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)
NM_017617.5(NOTCH1):c.6450G>T (p.Lys2150Asn)
NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser) rs1842932370
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser) rs116317506
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser) rs1035043614
NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu)
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys)
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr) rs1564568574
NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=)
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)
NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=)
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=) rs2133318278
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.651G>A (p.Arg217=)
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr) rs1197184303
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp)
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg) rs2133318027
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His)
NM_017617.5(NOTCH1):c.6556G>A (p.Gly2186Ser)
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val)
NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val)
NM_017617.5(NOTCH1):c.6567C>T (p.Cys2189=)
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.657C>T (p.Tyr219=) rs772778125
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=) rs1842929880
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met) rs754236791
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)
NM_017617.5(NOTCH1):c.6594G>T (p.Ser2198=) rs774256366
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6598G>A (p.Val2200Met)
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)
NM_017617.5(NOTCH1):c.6612G>A (p.Glu2204=)
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)
NM_017617.5(NOTCH1):c.6630G>A (p.Leu2210=) rs1589053186
NM_017617.5(NOTCH1):c.6639G>A (p.Val2213=)
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg)
NM_017617.5(NOTCH1):c.6647C>T (p.Pro2216Leu)
NM_017617.5(NOTCH1):c.6651A>C (p.Pro2217=)
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6666G>C (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser) rs1842928462
NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=)
NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=)
NM_017617.5(NOTCH1):c.669C>T (p.Ser223=) rs1589071892
NM_017617.5(NOTCH1):c.66G>C (p.Pro22=)
NM_017617.5(NOTCH1):c.6700C>T (p.Leu2234=)
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.6715G>A (p.Asp2239Asn)
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
NM_017617.5(NOTCH1):c.6724C>T (p.Leu2242=) rs1589053091
NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=)
NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=)
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.6739C>T (p.Leu2247=) 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.6747G>A (p.Val2249=) rs751544476
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr) rs1436539393
NM_017617.5(NOTCH1):c.6753C>G (p.Ala2251=) rs542875894
NM_017617.5(NOTCH1):c.6759C>G (p.Pro2253=) rs770738954
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=)
NM_017617.5(NOTCH1):c.6771G>C (p.Ala2257=)
NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro)
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.6819C>T (p.Leu2273=) rs778759745
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=)
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=)
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.6879C>T (p.Ala2293=) rs1015422139
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val)
NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=)
NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser)
NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=)
NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=) rs1842923327
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe)
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp) rs756653663
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys)
NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=) rs1190107678
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.6966A>G (p.Gln2322=) rs1318983291
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro)
NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val)
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr)
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) rs1554826428
NM_017617.5(NOTCH1):c.6996A>G (p.Pro2332=) rs2133316587
NM_017617.5(NOTCH1):c.6G>A (p.Pro2=) rs2133408666
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg)
NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys) rs567890045
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile)
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=)
NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu)
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.7045C>G (p.Pro2349Ala) rs1390427898
NM_017617.5(NOTCH1):c.705C>T (p.Pro235=) rs905803751
NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=)
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys)
NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=) rs61751487
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr) rs780869345
NM_017617.5(NOTCH1):c.7080C>T (p.Ser2360=)
NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=)
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg)
NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=)
NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser)
NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val) rs2133316248
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys) rs767497870
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=)
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.721C>T (p.His241Tyr)
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val)
NM_017617.5(NOTCH1):c.7230G>A (p.Pro2410=) rs199839390
NM_017617.5(NOTCH1):c.7230G>T (p.Pro2410=) rs199839390
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) rs762336270
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.7241C>T (p.Pro2414Leu)
NM_017617.5(NOTCH1):c.7251G>T (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu)
NM_017617.5(NOTCH1):c.726G>A (p.Glu242=) rs1843394434
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser)
NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=)
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu) rs768311067
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
NM_017617.5(NOTCH1):c.736C>T (p.Leu246=)
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=)
NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile) rs750245108
NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=)
NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met) rs2133315021
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)
NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=)
NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=)
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs) rs2133314943
NM_017617.5(NOTCH1):c.742+12C>A
NM_017617.5(NOTCH1):c.742+12_742+19del
NM_017617.5(NOTCH1):c.742+13G>A
NM_017617.5(NOTCH1):c.742+15T>C
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met) rs763785541
NM_017617.5(NOTCH1):c.743-10C>T
NM_017617.5(NOTCH1):c.743-12C>G
NM_017617.5(NOTCH1):c.743-12del rs774029678
NM_017617.5(NOTCH1):c.743-19C>T
NM_017617.5(NOTCH1):c.743-3C>A rs778646322
NM_017617.5(NOTCH1):c.743-5G>A
NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=)
NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=) rs1248949192
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
NM_017617.5(NOTCH1):c.747C>T (p.Phe249=) rs2133372901
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser) rs551150550
NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.750C>T (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.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.7569G>C (p.Ser2523=) rs534623042
NM_017617.5(NOTCH1):c.7575G>A (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=)
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg)
NM_017617.5(NOTCH1):c.7614C>T (p.Ser2538=)
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs) rs2133372831
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) rs370124241
NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)
NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)
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.774C>T (p.Ile258=) rs764542894
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg) rs2133372814
NM_017617.5(NOTCH1):c.788G>A (p.Gly263Glu)
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val)
NM_017617.5(NOTCH1):c.792C>T (p.Asn264=) rs776687224
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys)
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=) rs774222164
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=)
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.844C>T (p.Arg282Cys)
NM_017617.5(NOTCH1):c.855A>G (p.Pro285=)
NM_017617.5(NOTCH1):c.865+11G>A
NM_017617.5(NOTCH1):c.865+18C>A
NM_017617.5(NOTCH1):c.865+2C>T rs1164392989
NM_017617.5(NOTCH1):c.865+4C>T rs527248111
NM_017617.5(NOTCH1):c.865+8T>C
NM_017617.5(NOTCH1):c.866-16C>G
NM_017617.5(NOTCH1):c.866-9T>C rs2133371738
NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala)
NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)
NM_017617.5(NOTCH1):c.891C>T (p.Asp297=)
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His)
NM_017617.5(NOTCH1):c.901C>T (p.Leu301=) rs1564200379
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro)
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=) rs1060504522
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_017617.5(NOTCH1):c.997A>C (p.Ser333Arg) rs895972070
NM_018062.4(FANCL):c.1005A>G (p.Gln335=) rs1158938280
NM_018062.4(FANCL):c.1014A>G (p.Leu338=)
NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)
NM_018062.4(FANCL):c.1020+14A>G
NM_018062.4(FANCL):c.1020+14del
NM_018062.4(FANCL):c.1020+17T>C
NM_018062.4(FANCL):c.1020+18T>C
NM_018062.4(FANCL):c.1020+20T>G
NM_018062.4(FANCL):c.1020+8dup
NM_018062.4(FANCL):c.1020+9_1020+11del
NM_018062.4(FANCL):c.1021-16C>G
NM_018062.4(FANCL):c.1021-18A>C
NM_018062.4(FANCL):c.1021-18_1021-14dup
NM_018062.4(FANCL):c.1021-18_1021-15dup
NM_018062.4(FANCL):c.1021-22_1021-20del
NM_018062.4(FANCL):c.1021-23_1021-15del
NM_018062.4(FANCL):c.1021-2A>G
NM_018062.4(FANCL):c.1021-7T>C
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg) rs1558727863
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.102A>G (p.Arg34=) rs759217429
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
NM_018062.4(FANCL):c.105C>T (p.Asp35=)
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
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.1080A>G (p.Pro360=)
NM_018062.4(FANCL):c.1092+14T>G
NM_018062.4(FANCL):c.1092+15A>G
NM_018062.4(FANCL):c.1092+17T>C
NM_018062.4(FANCL):c.1092+18C>G
NM_018062.4(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.4(FANCL):c.1093-10C>A
NM_018062.4(FANCL):c.1093-10_1093-8del
NM_018062.4(FANCL):c.1093-11T>A
NM_018062.4(FANCL):c.1093-12C>G
NM_018062.4(FANCL):c.1093-13T>A
NM_018062.4(FANCL):c.1093-13T>C
NM_018062.4(FANCL):c.1093-15G>A
NM_018062.4(FANCL):c.1093-15G>T rs767450055
NM_018062.4(FANCL):c.1093-17A>T
NM_018062.4(FANCL):c.1093-18T>G
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.129T>C (p.Pro43=)
NM_018062.4(FANCL):c.12G>C (p.Thr4=)
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.138A>G (p.Leu46=)
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.141A>G (p.Gln47=)
NM_018062.4(FANCL):c.147G>A (p.Lys49=)
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.150T>C (p.Asn50=)
NM_018062.4(FANCL):c.153A>G (p.Ala51=) rs2103919517
NM_018062.4(FANCL):c.155+18T>A rs1573820307
NM_018062.4(FANCL):c.155+19A>T
NM_018062.4(FANCL):c.155+8G>A
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys) rs1693636944
NM_018062.4(FANCL):c.156-11T>A
NM_018062.4(FANCL):c.156-11T>C
NM_018062.4(FANCL):c.156-12T>C
NM_018062.4(FANCL):c.156-13A>C
NM_018062.4(FANCL):c.156-13A>T
NM_018062.4(FANCL):c.156-14C>T
NM_018062.4(FANCL):c.156-15T>C rs2103886212
NM_018062.4(FANCL):c.156-16C>T
NM_018062.4(FANCL):c.156-3T>G
NM_018062.4(FANCL):c.156-8A>C rs878855045
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.1A>C (p.Met1Leu)
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
NM_018062.4(FANCL):c.202C>A (p.Arg68=)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
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.210A>G (p.Val70=)
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.4(FANCL):c.213A>G (p.Gln71=)
NM_018062.4(FANCL):c.216+13del rs1558823075
NM_018062.4(FANCL):c.216+14A>G
NM_018062.4(FANCL):c.216+17A>G
NM_018062.4(FANCL):c.216+7C>G
NM_018062.4(FANCL):c.216+8C>G
NM_018062.4(FANCL):c.216+9T>C
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg) rs200559825
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
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.231_232del (p.Ser77_Pro78insTer)
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
NM_018062.4(FANCL):c.234T>C (p.Pro78=)
NM_018062.4(FANCL):c.235del (p.Asp79fs)
NM_018062.4(FANCL):c.240A>C (p.Leu80=)
NM_018062.4(FANCL):c.241A>G (p.Met81Val) rs1440897827
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
NM_018062.4(FANCL):c.24G>A (p.Leu8=)
NM_018062.4(FANCL):c.24G>T (p.Leu8=)
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.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.273+7A>T
NM_018062.4(FANCL):c.273+7dup
NM_018062.4(FANCL):c.274-11_274-9del rs766344718
NM_018062.4(FANCL):c.274-14C>G
NM_018062.4(FANCL):c.274-19G>A
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys) rs2103754665
NM_018062.4(FANCL):c.276A>G (p.Glu92=)
NM_018062.4(FANCL):c.27G>A (p.Leu9=)
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.282C>T (p.Ala94=)
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.291T>C (p.Asn97=)
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys) rs1196510455
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter) rs1196510455
NM_018062.4(FANCL):c.2T>G (p.Met1Arg) rs761291501
NM_018062.4(FANCL):c.308C>T (p.Ala103Val) rs746623168
NM_018062.4(FANCL):c.309A>G (p.Ala103=)
NM_018062.4(FANCL):c.30C>T (p.Arg10=)
NM_018062.4(FANCL):c.310C>T (p.Leu104=) rs1225517747
NM_018062.4(FANCL):c.312A>G (p.Leu104=)
NM_018062.4(FANCL):c.318T>C (p.Pro106=)
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala) rs754028115
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
NM_018062.4(FANCL):c.320del (p.Pro107fs)
NM_018062.4(FANCL):c.324C>G (p.Pro108=)
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
NM_018062.4(FANCL):c.330C>T (p.Phe110=)
NM_018062.4(FANCL):c.333C>T (p.Tyr111=)
NM_018062.4(FANCL):c.336A>G (p.Ser112=)
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg) rs2103752897
NM_018062.4(FANCL):c.345T>A (p.Ile115=)
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.363T>C (p.Leu121=)
NM_018062.4(FANCL):c.365G>T (p.Gly122Val) rs2103752402
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter) rs756487177
NM_018062.4(FANCL):c.374+13T>G
NM_018062.4(FANCL):c.374+16_374+20del
NM_018062.4(FANCL):c.374+19_374+20del rs1692517175
NM_018062.4(FANCL):c.374+20T>A
NM_018062.4(FANCL):c.374+3A>G rs999309828
NM_018062.4(FANCL):c.374+7C>T
NM_018062.4(FANCL):c.375-11C>T
NM_018062.4(FANCL):c.375-13_375-11del rs759671554
NM_018062.4(FANCL):c.375-14C>T
NM_018062.4(FANCL):c.375-16C>T
NM_018062.4(FANCL):c.375-17T>G
NM_018062.4(FANCL):c.375-19A>C
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.375-2033C>T
NM_018062.4(FANCL):c.375-20T>A
NM_018062.4(FANCL):c.375-5A>T rs2105148555
NM_018062.4(FANCL):c.378T>A (p.Leu126=) rs746200741
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.384T>C (p.Tyr128=) rs1245585990
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
NM_018062.4(FANCL):c.385_397del (p.Ala129fs) rs2105148069
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr) rs1690340999
NM_018062.4(FANCL):c.390T>C (p.Asp130=)
NM_018062.4(FANCL):c.39C>A (p.Pro13=) rs201708705
NM_018062.4(FANCL):c.39C>G (p.Pro13=) rs201708705
NM_018062.4(FANCL):c.3G>A (p.Met1Ile) rs1694527909
NM_018062.4(FANCL):c.405C>G (p.Thr135=)
NM_018062.4(FANCL):c.408C>G (p.Ile136Met) rs1389670408
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.417A>G (p.Lys139=) rs1690337979
NM_018062.4(FANCL):c.420A>G (p.Ala140=) rs1573699668
NM_018062.4(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly) rs756000370
NM_018062.4(FANCL):c.429T>C (p.Ala143=)
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr) rs2105147558
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.435T>G (p.Gly145=) rs2105147481
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
NM_018062.4(FANCL):c.44T>A (p.Leu15His) rs1694519859
NM_018062.4(FANCL):c.450C>A (p.Ile150=)
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
NM_018062.4(FANCL):c.456C>G (p.Leu152=)
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
NM_018062.4(FANCL):c.46C>T (p.Leu16=)
NM_018062.4(FANCL):c.471+13T>C
NM_018062.4(FANCL):c.471+16A>G rs1026741275
NM_018062.4(FANCL):c.471+1G>A
NM_018062.4(FANCL):c.471+2T>C
NM_018062.4(FANCL):c.472-11T>C
NM_018062.4(FANCL):c.472-14T>C rs371196539
NM_018062.4(FANCL):c.472-15A>G rs374750427
NM_018062.4(FANCL):c.472-15A>T rs374750427
NM_018062.4(FANCL):c.472-18G>A
NM_018062.4(FANCL):c.472-5A>G
NM_018062.4(FANCL):c.472-6T>A
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter) rs1689679880
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.480A>G (p.Ala160=)
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys) rs2105100994
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
NM_018062.4(FANCL):c.507T>C (p.Phe169=) rs1423808735
NM_018062.4(FANCL):c.513T>C (p.Val171=)
NM_018062.4(FANCL):c.51C>G (p.Pro17=) rs772700022
NM_018062.4(FANCL):c.51C>T (p.Pro17=)
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
NM_018062.4(FANCL):c.528C>G (p.Ser176=)
NM_018062.4(FANCL):c.528C>T (p.Ser176=) rs764969578
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys) rs1689674094
NM_018062.4(FANCL):c.540+10_540+24del rs770182004
NM_018062.4(FANCL):c.540+13C>T rs1442784677
NM_018062.4(FANCL):c.540+16G>T
NM_018062.4(FANCL):c.540+18A>G
NM_018062.4(FANCL):c.541-10T>G
NM_018062.4(FANCL):c.541-11T>A rs1458588728
NM_018062.4(FANCL):c.541-14C>A rs765321485
NM_018062.4(FANCL):c.541-14C>T
NM_018062.4(FANCL):c.541-15T>C rs1685890518
NM_018062.4(FANCL):c.541-15T>G
NM_018062.4(FANCL):c.541-18C>G
NM_018062.4(FANCL):c.541-2A>C
NM_018062.4(FANCL):c.541-4A>G
NM_018062.4(FANCL):c.541-5C>T
NM_018062.4(FANCL):c.541-5del rs1293206231
NM_018062.4(FANCL):c.541-6dup rs746526500
NM_018062.4(FANCL):c.543C>T (p.Ser181=)
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
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.558_561dup (p.Ser188delinsLeuTer)
NM_018062.4(FANCL):c.561T>C (p.Tyr187=) rs1185627493
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
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.57C>T (p.Asn19=)
NM_018062.4(FANCL):c.591A>G (p.Leu197=) rs1320380833
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
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.60G>A (p.Arg20=)
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.616G>T (p.Glu206Ter)
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>A (p.Ser21Ter)
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
NM_018062.4(FANCL):c.642T>C (p.Leu214=)
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly) rs1360050423
NM_018062.4(FANCL):c.654A>G (p.Lys218=)
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
NM_018062.4(FANCL):c.659del (p.Pro220fs)
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu) rs761742545
NM_018062.4(FANCL):c.663G>C (p.Arg221=)
NM_018062.4(FANCL):c.663G>T (p.Arg221=)
NM_018062.4(FANCL):c.666T>C (p.Ser222=)
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.682del (p.Ile228fs)
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
NM_018062.4(FANCL):c.691+8C>T rs1327876704
NM_018062.4(FANCL):c.691+9A>G
NM_018062.4(FANCL):c.692-11T>C
NM_018062.4(FANCL):c.692-15C>A
NM_018062.4(FANCL):c.692-15C>G rs370449029
NM_018062.4(FANCL):c.692-18A>C
NM_018062.4(FANCL):c.692-4C>A
NM_018062.4(FANCL):c.692-4C>G
NM_018062.4(FANCL):c.692-6T>C rs1685523497
NM_018062.4(FANCL):c.693T>C (p.Gly231=)
NM_018062.4(FANCL):c.693T>G (p.Gly231=) rs864622189
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del) rs549637282
NM_018062.4(FANCL):c.699T>C (p.Asn233=)
NM_018062.4(FANCL):c.702T>C (p.Val234=)
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro) rs1383696633
NM_018062.4(FANCL):c.705C>T (p.Ser235=) rs1553435677
NM_018062.4(FANCL):c.719T>C (p.Val240Ala) rs1195674676
NM_018062.4(FANCL):c.726C>A (p.Pro242=)
NM_018062.4(FANCL):c.727A>C (p.Arg243=) rs941555289
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile) rs2104800049
NM_018062.4(FANCL):c.739_740dup (p.Met247fs) rs1685514075
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu) rs780414432
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.75T>C (p.Tyr25=)
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.768T>C (p.Ala256=)
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+10C>T
NM_018062.4(FANCL):c.775+11T>G
NM_018062.4(FANCL):c.775+2T>C
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.775+6A>G
NM_018062.4(FANCL):c.776-10del rs374236117
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_018062.4(FANCL):c.776-11_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.776-8A>T rs753745302
NM_018062.4(FANCL):c.776-8dup
NM_018062.4(FANCL):c.776-9A>T rs1685446346
NM_018062.4(FANCL):c.786C>T (p.Pro262=)
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.813_816del (p.His272fs) rs1558735946
NM_018062.4(FANCL):c.814C>G (p.His272Asp) rs1047208127
NM_018062.4(FANCL):c.819G>A (p.Leu273=)
NM_018062.4(FANCL):c.81A>C (p.Gly27=) rs1553459821
NM_018062.4(FANCL):c.821+1G>A
NM_018062.4(FANCL):c.822-12C>T
NM_018062.4(FANCL):c.822-13C>G
NM_018062.4(FANCL):c.822-15dup rs570217357
NM_018062.4(FANCL):c.822-4T>G rs2104795280
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.834T>C (p.Asn278=)
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser) rs935920468
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg) rs2104794990
NM_018062.4(FANCL):c.846A>T (p.Gln282His) rs535158133
NM_018062.4(FANCL):c.858T>C (p.Asp286=)
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser) rs1573513610
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
NM_018062.4(FANCL):c.873T>C (p.Asp291=) rs773117904
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
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+12C>T
NM_018062.4(FANCL):c.903+14G>A
NM_018062.4(FANCL):c.903+14G>T
NM_018062.4(FANCL):c.903+16_903+17del
NM_018062.4(FANCL):c.903+17T>A
NM_018062.4(FANCL):c.903+1G>T
NM_018062.4(FANCL):c.903+1_903+2del
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.903+6T>A
NM_018062.4(FANCL):c.904-14T>C
NM_018062.4(FANCL):c.904-18_904-15del
NM_018062.4(FANCL):c.904-19A>G
NM_018062.4(FANCL):c.904-1G>A rs2104783888
NM_018062.4(FANCL):c.904-20T>A
NM_018062.4(FANCL):c.904-4G>C
NM_018062.4(FANCL):c.904-4G>T rs757211531
NM_018062.4(FANCL):c.904-7T>G rs2104783967
NM_018062.4(FANCL):c.904-8T>G rs2104784017
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.90G>T (p.Ser30=)
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.921T>C (p.Cys307=) rs959857056
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu) rs2104783676
NM_018062.4(FANCL):c.924A>T (p.Gly308=)
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter) rs1423411761
NM_018062.4(FANCL):c.933T>C (p.Tyr311=)
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser) rs2104783559
NM_018062.4(FANCL):c.936T>G (p.Ala312=)
NM_018062.4(FANCL):c.93T>C (p.Ala31=) rs563039004
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
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.951T>G (p.Gly317=)
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
NM_018062.4(FANCL):c.954C>T (p.Thr318=)
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
NM_018062.4(FANCL):c.96+11A>G
NM_018062.4(FANCL):c.96+12G>A
NM_018062.4(FANCL):c.96+12G>C
NM_018062.4(FANCL):c.96+14G>A
NM_018062.4(FANCL):c.96+14_96+15inv
NM_018062.4(FANCL):c.96+15G>A
NM_018062.4(FANCL):c.96+18G>A
NM_018062.4(FANCL):c.96+2T>A
NM_018062.4(FANCL):c.96+2T>C
NM_018062.4(FANCL):c.96+4C>A rs1279339819
NM_018062.4(FANCL):c.96+6C>T rs544743506
NM_018062.4(FANCL):c.96+8C>G
NM_018062.4(FANCL):c.96+8C>T
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.97-13A>T
NM_018062.4(FANCL):c.97-14A>C
NM_018062.4(FANCL):c.97-14A>G
NM_018062.4(FANCL):c.97-15C>T rs2103921401
NM_018062.4(FANCL):c.97-15_97-11del
NM_018062.4(FANCL):c.97-20C>G
NM_018062.4(FANCL):c.97-4A>T rs2103921076
NM_018062.4(FANCL):c.97-7T>C
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_018486.3(HDAC8):c.1005+2T>C rs2148039062
NM_018486.3(HDAC8):c.1005+5G>A
NM_018486.3(HDAC8):c.1006-4A>G
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) rs1555949010
NM_018486.3(HDAC8):c.104C>T (p.Pro35Leu) rs782296225
NM_018486.3(HDAC8):c.1053C>T (p.Ser351=)
NM_018486.3(HDAC8):c.1058G>A (p.Arg353Gln)
NM_018486.3(HDAC8):c.1066C>T (p.Arg356Cys)
NM_018486.3(HDAC8):c.1068C>A (p.Arg356=)
NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr)
NM_018486.3(HDAC8):c.1104C>T (p.Tyr368=)
NM_018486.3(HDAC8):c.1105A>G (p.Ile369Val)
NM_018486.3(HDAC8):c.111+10G>A
NM_018486.3(HDAC8):c.111+14G>C rs2147618204
NM_018486.3(HDAC8):c.111+20A>G
NM_018486.3(HDAC8):c.111+6G>A
NM_018486.3(HDAC8):c.111+7G>A rs2147618283
NM_018486.3(HDAC8):c.1111+13C>T
NM_018486.3(HDAC8):c.1111+17del
NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg)
NM_018486.3(HDAC8):c.1112-10_1112-9del
NM_018486.3(HDAC8):c.1112-11C>G
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.1112-5T>G
NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met)
NM_018486.3(HDAC8):c.111G>C (p.Arg37=)
NM_018486.3(HDAC8):c.112-11G>T
NM_018486.3(HDAC8):c.112-14G>A
NM_018486.3(HDAC8):c.112-17del rs3830710
NM_018486.3(HDAC8):c.112-18_112-17dup
NM_018486.3(HDAC8):c.112-29dup rs3830710
NM_018486.3(HDAC8):c.1126G>A (p.Val376Met)
NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu)
NM_018486.3(HDAC8):c.12G>A (p.Pro4=)
NM_018486.3(HDAC8):c.141A>T (p.Ala47=)
NM_018486.3(HDAC8):c.164+2dup rs2147614590
NM_018486.3(HDAC8):c.164+4del rs2147614572
NM_018486.3(HDAC8):c.164+9T>C
NM_018486.3(HDAC8):c.165-11G>A
NM_018486.3(HDAC8):c.166A>G (p.Ile56Val)
NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln)
NM_018486.3(HDAC8):c.21G>C (p.Pro7=) rs1603246257
NM_018486.3(HDAC8):c.225T>C (p.Tyr75=)
NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu)
NM_018486.3(HDAC8):c.291G>A (p.Gly97=)
NM_018486.3(HDAC8):c.295+2T>G rs2051897517
NM_018486.3(HDAC8):c.296-13T>C
NM_018486.3(HDAC8):c.296-6C>T
NM_018486.3(HDAC8):c.29G>A (p.Ser10Asn) rs2147618964
NM_018486.3(HDAC8):c.306C>T (p.Cys102=)
NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr)
NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg)
NM_018486.3(HDAC8):c.330C>T (p.Asp110=) rs2051865907
NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg)
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.381T>A (p.Ile127=)
NM_018486.3(HDAC8):c.383A>T (p.Asp128Val)
NM_018486.3(HDAC8):c.437+13C>G
NM_018486.3(HDAC8):c.437+16_437+19del
NM_018486.3(HDAC8):c.43G>A (p.Val15Ile)
NM_018486.3(HDAC8):c.440A>T (p.Asp147Val)
NM_018486.3(HDAC8):c.474T>C (p.Ala158=)
NM_018486.3(HDAC8):c.477C>T (p.Val159=)
NM_018486.3(HDAC8):c.487T>C (p.Leu163=)
NM_018486.3(HDAC8):c.491G>T (p.Arg164Leu)
NM_018486.3(HDAC8):c.499C>T (p.Arg167Trp)
NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln)
NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu) rs2148144312
NM_018486.3(HDAC8):c.510G>A (p.Glu170=)
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter) rs146015223
NM_018486.3(HDAC8):c.525G>A (p.Val175=)
NM_018486.3(HDAC8):c.550+7C>T
NM_018486.3(HDAC8):c.550+9T>G
NM_018486.3(HDAC8):c.551-17G>A
NM_018486.3(HDAC8):c.558A>G (p.Glu186=) rs2148131646
NM_018486.3(HDAC8):c.587T>C (p.Met196Thr)
NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn)
NM_018486.3(HDAC8):c.603C>T (p.His201=)
NM_018486.3(HDAC8):c.615A>G (p.Pro205=)
NM_018486.3(HDAC8):c.628+20G>A rs2148131378
NM_018486.3(HDAC8):c.628+7G>A
NM_018486.3(HDAC8):c.629-11C>G
NM_018486.3(HDAC8):c.629-16C>T
NM_018486.3(HDAC8):c.629-18T>C
NM_018486.3(HDAC8):c.640G>A (p.Val214Met)
NM_018486.3(HDAC8):c.657A>C (p.Leu219=)
NM_018486.3(HDAC8):c.666A>G (p.Gly222=)
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534
NM_018486.3(HDAC8):c.669G>T (p.Arg223=)
NM_018486.3(HDAC8):c.66C>G (p.Pro22=)
NM_018486.3(HDAC8):c.66C>T (p.Pro22=)
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+16_737+28del
NM_018486.3(HDAC8):c.737+3A>G
NM_018486.3(HDAC8):c.737+6G>A
NM_018486.3(HDAC8):c.738-17del
NM_018486.3(HDAC8):c.738-2A>G
NM_018486.3(HDAC8):c.738-4A>G rs782294776
NM_018486.3(HDAC8):c.747G>A (p.Lys249=)
NM_018486.3(HDAC8):c.748del (p.Glu250fs)
NM_018486.3(HDAC8):c.767A>T (p.Asn256Ile)
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) rs886041838
NM_018486.3(HDAC8):c.822G>A (p.Met274Ile)
NM_018486.3(HDAC8):c.828C>T (p.Ser276=)
NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu)
NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro)
NM_018486.3(HDAC8):c.894A>G (p.Thr298=)
NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu)
NM_018486.3(HDAC8):c.910+20A>G rs2148045760
NM_018486.3(HDAC8):c.911-13T>C
NM_018486.3(HDAC8):c.911-5G>C
NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp) rs2148039310
NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser)
NM_018486.3(HDAC8):c.927C>T (p.Ala309=)
NM_018486.3(HDAC8):c.930C>T (p.Asn310=)
NM_018486.3(HDAC8):c.951C>T (p.Tyr317=) rs1555991936
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile) rs2148039184
NM_018486.3(HDAC8):c.957C>T (p.Thr319=) rs782144834
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala)
NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro)
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)
NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr)
NM_020436.5(SALL4):c.1092G>A (p.Pro364=)
NM_020436.5(SALL4):c.1107G>A (p.Val369=)
NM_020436.5(SALL4):c.1125C>T (p.Asp375=)
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)
NM_020436.5(SALL4):c.1209C>T (p.Ser403=)
NM_020436.5(SALL4):c.122G>A (p.Gly41Glu)
NM_020436.5(SALL4):c.1232del (p.Val411fs) rs1568864697
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)
NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg)
NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro)
NM_020436.5(SALL4):c.131-2A>G rs2122967143
NM_020436.5(SALL4):c.1314C>T (p.Asn438=)
NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys)
NM_020436.5(SALL4):c.1358A>T (p.Asn453Ile)
NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter)
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)
NM_020436.5(SALL4):c.1476G>C (p.Gly492=) rs1428240079
NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro)
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
NM_020436.5(SALL4):c.159C>T (p.Asp53=)
NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp)
NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter) rs2122963183
NM_020436.5(SALL4):c.1660T>C (p.Leu554=)
NM_020436.5(SALL4):c.1671C>T (p.Asn557=)
NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del)
NM_020436.5(SALL4):c.1698C>T (p.Asn566=)
NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter) rs2078032400
NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln)
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)
NM_020436.5(SALL4):c.1770G>A (p.Gly590=)
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter) rs2078031226
NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro) rs1415936268
NM_020436.5(SALL4):c.1851A>G (p.Arg617=)
NM_020436.5(SALL4):c.1959dup (p.Pro654fs) rs2122962507
NM_020436.5(SALL4):c.1994_1995del (p.Phe665fs)
NM_020436.5(SALL4):c.2049C>G (p.Cys683Trp)
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
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.213G>A (p.Thr71=)
NM_020436.5(SALL4):c.2151G>A (p.Ser717=)
NM_020436.5(SALL4):c.2163G>A (p.Thr721=)
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
NM_020436.5(SALL4):c.2234G>A (p.Arg745His)
NM_020436.5(SALL4):c.2253C>T (p.Asn751=)
NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala)
NM_020436.5(SALL4):c.2280dup (p.Asn761fs)
NM_020436.5(SALL4):c.2352C>A (p.Ser784=)
NM_020436.5(SALL4):c.2370G>A (p.Pro790=) rs570760124
NM_020436.5(SALL4):c.2373C>T (p.Ala791=)
NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn) rs147768774
NM_020436.5(SALL4):c.2424dup (p.Ala809fs)
NM_020436.5(SALL4):c.2462-13C>T rs778354482
NM_020436.5(SALL4):c.2496C>T (p.Ala832=)
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.2593C>T (p.Arg865Ter) rs74315425
NM_020436.5(SALL4):c.2640G>A (p.Ser880=) rs17802735
NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) rs2078012508
NM_020436.5(SALL4):c.2673T>C (p.Thr891=) rs779929335
NM_020436.5(SALL4):c.2704A>G (p.Ile902Val) rs2122959420
NM_020436.5(SALL4):c.2742+16C>T
NM_020436.5(SALL4):c.2743-3T>C
NM_020436.5(SALL4):c.2743-5C>T
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.2872C>T (p.Leu958=)
NM_020436.5(SALL4):c.2944G>A (p.Val982Met)
NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg)
NM_020436.5(SALL4):c.2982G>T (p.Gly994=)
NM_020436.5(SALL4):c.2984T>G (p.Val995Gly) rs1601162110
NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)
NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)
NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)
NM_020436.5(SALL4):c.31C>T (p.His11Tyr)
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
NM_020436.5(SALL4):c.33C>T (p.His11=)
NM_020436.5(SALL4):c.39C>T (p.Asn13=)
NM_020436.5(SALL4):c.411C>G (p.Gly137=) rs201560082
NM_020436.5(SALL4):c.412G>A (p.Gly138Ser)
NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu)
NM_020436.5(SALL4):c.432G>A (p.Lys144=)
NM_020436.5(SALL4):c.474_475del (p.Glu158fs)
NM_020436.5(SALL4):c.477A>G (p.Thr159=)
NM_020436.5(SALL4):c.485C>T (p.Pro162Leu)
NM_020436.5(SALL4):c.516_522del (p.Gly174fs) rs2078047390
NM_020436.5(SALL4):c.526G>A (p.Val176Met)
NM_020436.5(SALL4):c.531C>T (p.Ala177=)
NM_020436.5(SALL4):c.540_541inv (p.Val181Met)
NM_020436.5(SALL4):c.563del (p.Gly188fs) rs1555850961
NM_020436.5(SALL4):c.573G>A (p.Val191=)
NM_020436.5(SALL4):c.575C>A (p.Ala192Glu)
NM_020436.5(SALL4):c.588G>A (p.Arg196=)
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.762C>T (p.Ala254=) rs141546409
NM_020436.5(SALL4):c.770T>G (p.Leu257Arg)
NM_020436.5(SALL4):c.776C>T (p.Thr259Ile)
NM_020436.5(SALL4):c.789C>T (p.His263=)
NM_020436.5(SALL4):c.827dup (p.Ser276fs) rs1568865283
NM_020436.5(SALL4):c.853T>C (p.Ser285Pro)
NM_020436.5(SALL4):c.888C>T (p.His296=)
NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)
NM_020436.5(SALL4):c.891C>T (p.Ala297=)
NM_020436.5(SALL4):c.986G>A (p.Arg329His)
NM_020436.5(SALL4):c.9G>A (p.Arg3=)
NM_020937.4(FANCM):c.1000A>C (p.Ile334Leu)
NM_020937.4(FANCM):c.1010C>T (p.Ala337Val)
NM_020937.4(FANCM):c.1015del (p.Asp339fs) rs1216266838
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.1051-18C>T rs1312919356
NM_020937.4(FANCM):c.1051-19A>G rs2139168541
NM_020937.4(FANCM):c.1051-2A>T rs1886997142
NM_020937.4(FANCM):c.1051-8T>C
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.1077A>G (p.Gly359=) rs2139168714
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.1098T>C (p.Ser366=) rs747666389
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.1120T>C (p.Leu374=)
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
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.1134A>G (p.Gly378=) rs776630034
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter) rs765686151
NM_020937.4(FANCM):c.114C>T (p.Ser38=) rs761652077
NM_020937.4(FANCM):c.1155C>T (p.Phe385=)
NM_020937.4(FANCM):c.1163G>T (p.Gly388Val) rs2139169070
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
NM_020937.4(FANCM):c.1176A>C (p.Gly392=) rs2139169125
NM_020937.4(FANCM):c.1183+10A>G
NM_020937.4(FANCM):c.1183+15A>T rs1264043591
NM_020937.4(FANCM):c.1183+8A>T
NM_020937.4(FANCM):c.1183+9T>C rs1009322588
NM_020937.4(FANCM):c.1184-14C>A
NM_020937.4(FANCM):c.1184-14C>G
NM_020937.4(FANCM):c.1184-15T>A rs2139171197
NM_020937.4(FANCM):c.1184-19C>G
NM_020937.4(FANCM):c.1184-19C>T
NM_020937.4(FANCM):c.1185G>C (p.Gly395=) rs2139171262
NM_020937.4(FANCM):c.1185G>T (p.Gly395=)
NM_020937.4(FANCM):c.1186A>C (p.Met396Leu) rs768041388
NM_020937.4(FANCM):c.1189A>G (p.Thr397Ala)
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) rs1166587869
NM_020937.4(FANCM):c.1197A>G (p.Ser399=)
NM_020937.4(FANCM):c.1200A>G (p.Lys400=) rs905295349
NM_020937.4(FANCM):c.1208T>C (p.Leu403Pro) rs1887059226
NM_020937.4(FANCM):c.120G>T (p.Ala40=) rs1885476315
NM_020937.4(FANCM):c.1214G>A (p.Arg405Gln)
NM_020937.4(FANCM):c.121C>A (p.Pro41Thr)
NM_020937.4(FANCM):c.1221A>G (p.Glu407=)
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.1236C>G (p.Leu412=) rs1476021559
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer) rs1467556424
NM_020937.4(FANCM):c.1242T>C (p.Asn414=)
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.126G>A (p.Leu42=) rs2139100378
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.1286del (p.Asn429fs)
NM_020937.4(FANCM):c.1295C>T (p.Ser432Phe) rs149379175
NM_020937.4(FANCM):c.1305A>G (p.Gln435=) rs2139171928
NM_020937.4(FANCM):c.1309+10T>G rs374945162
NM_020937.4(FANCM):c.1309+3C>G
NM_020937.4(FANCM):c.1309+6del
NM_020937.4(FANCM):c.1309+7T>A
NM_020937.4(FANCM):c.1310-12G>A
NM_020937.4(FANCM):c.1310-12del rs1566738883
NM_020937.4(FANCM):c.1310-13T>A rs749995672
NM_020937.4(FANCM):c.1310-13T>C rs749995672
NM_020937.4(FANCM):c.1310-14T>C
NM_020937.4(FANCM):c.1310-18A>G rs2139173703
NM_020937.4(FANCM):c.1310-20A>G
NM_020937.4(FANCM):c.1310-7G>C rs2139173742
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.1335T>G (p.Tyr445Ter) rs1270367757
NM_020937.4(FANCM):c.1358T>C (p.Leu453Ser)
NM_020937.4(FANCM):c.1361AAG[1] (p.Glu455del) rs1566739002
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
NM_020937.4(FANCM):c.1364A>C (p.Glu455Ala) rs889654019
NM_020937.4(FANCM):c.136G>A (p.Ala46Thr)
NM_020937.4(FANCM):c.1371A>T (p.Val457=) rs1407346797
NM_020937.4(FANCM):c.1389A>T (p.Ser463=) rs2139174057
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.1396+9T>A
NM_020937.4(FANCM):c.1396G>A (p.Ala466Thr)
NM_020937.4(FANCM):c.1397-14A>G
NM_020937.4(FANCM):c.1397-14A>T rs757351765
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1397-15TA[8] rs112326758
NM_020937.4(FANCM):c.1397-1_1407del
NM_020937.4(FANCM):c.1397-8A>G
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.1432C>T (p.Arg478Ter) rs552052505
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.1452A>T (p.Ser484=) rs1594777564
NM_020937.4(FANCM):c.1457G>A (p.Arg486Gln)
NM_020937.4(FANCM):c.1461T>C (p.Asp487=)
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.147G>A (p.Gln49=) rs1250039443
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter) rs2139186499
NM_020937.4(FANCM):c.14A>G (p.Gln5Arg)
NM_020937.4(FANCM):c.1501C>G (p.Pro501Ala) rs1887404285
NM_020937.4(FANCM):c.1503A>C (p.Pro501=) rs2139186592
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
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.1521T>G (p.Thr507=) rs1444475815
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.1536C>G (p.Ala512=)
NM_020937.4(FANCM):c.1539A>G (p.Ser513=) rs886050499
NM_020937.4(FANCM):c.1540G>C (p.Gly514Arg)
NM_020937.4(FANCM):c.1551G>C (p.Thr517=) rs139535827
NM_020937.4(FANCM):c.1560del (p.Phe520fs) rs2139186964
NM_020937.4(FANCM):c.1563C>A (p.Thr521=) rs775472302
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.1581+14G>C rs781169191
NM_020937.4(FANCM):c.1581+15A>G rs1199408690
NM_020937.4(FANCM):c.1581+19G>T
NM_020937.4(FANCM):c.1581+1G>A rs373430198
NM_020937.4(FANCM):c.1581+30_1581+35del
NM_020937.4(FANCM):c.1581+7_1581+9del rs1887415979
NM_020937.4(FANCM):c.1582-13G>A
NM_020937.4(FANCM):c.1582-16A>C rs201905147
NM_020937.4(FANCM):c.1582-16A>G
NM_020937.4(FANCM):c.1584A>G (p.Val528=) rs1158678939
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) rs1447482674
NM_020937.4(FANCM):c.1599T>C (p.Arg533=)
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.1617G>A (p.Thr539=) rs779563169
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.1638T>C (p.Gly546=)
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.1665T>C (p.Val555=)
NM_020937.4(FANCM):c.1675A>G (p.Ile559Val)
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs) rs1887822022
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.1701A>C (p.Pro567=) rs2139205029
NM_020937.4(FANCM):c.1701A>T (p.Pro567=)
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.1713A>C (p.Val571=)
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.1770T>C (p.Ser590=) rs1266191069
NM_020937.4(FANCM):c.1771G>A (p.Glu591Lys)
NM_020937.4(FANCM):c.1778G>A (p.Arg593Gln) rs1887831277
NM_020937.4(FANCM):c.177C>T (p.Val59=) rs2139100946
NM_020937.4(FANCM):c.1782G>A (p.Glu594=) rs141109534
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.1786_1787insTTAC (p.Arg596fs) rs1887832125
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.1798C>T (p.Gln600Ter) rs778744393
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.180G>A (p.Ala60=)
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.1827_1828dup (p.Lys610fs) rs1888023074
NM_020937.4(FANCM):c.182C>G (p.Ala61Gly)
NM_020937.4(FANCM):c.183G>A (p.Ala61=)
NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr) rs1888024744
NM_020937.4(FANCM):c.1844del (p.Asn615fs) rs2139214355
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr) rs2139214385
NM_020937.4(FANCM):c.1851G>A (p.Gln617=)
NM_020937.4(FANCM):c.1862T>A (p.Phe621Tyr) rs2139214525
NM_020937.4(FANCM):c.1866C>T (p.Tyr622=) rs2139214549
NM_020937.4(FANCM):c.1871G>A (p.Arg624Lys)
NM_020937.4(FANCM):c.1876C>T (p.Pro626Ser) rs1462865463
NM_020937.4(FANCM):c.1879C>A (p.Arg627=) rs374626826
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.1911A>G (p.Leu637=) rs2139214829
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.1932T>C (p.His644=)
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.1944A>G (p.Glu648=)
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.195G>A (p.Glu65=) rs1885485132
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.1986C>T (p.Ile662=) rs757122378
NM_020937.4(FANCM):c.1992C>A (p.Ser664=)
NM_020937.4(FANCM):c.1995T>C (p.Tyr665=)
NM_020937.4(FANCM):c.1A>G (p.Met1Val) rs752141076
NM_020937.4(FANCM):c.2002+12T>C
NM_020937.4(FANCM):c.2002+16A>G rs370879109
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.2025G>A (p.Lys675=) rs1888275752
NM_020937.4(FANCM):c.2029G>A (p.Asp677Asn) rs1888276122
NM_020937.4(FANCM):c.202T>C (p.Leu68=)
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
NM_020937.4(FANCM):c.2037C>T (p.Phe679=) rs2139226277
NM_020937.4(FANCM):c.2040A>T (p.Leu680Phe)
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs) rs777996811
NM_020937.4(FANCM):c.2041T>C (p.Ser681Pro)
NM_020937.4(FANCM):c.2046A>G (p.Glu682=) rs201216865
NM_020937.4(FANCM):c.2046A>T (p.Glu682Asp)
NM_020937.4(FANCM):c.2049A>T (p.Glu683Asp) rs1888277477
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
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.2076T>A (p.Tyr692Ter)
NM_020937.4(FANCM):c.2078G>A (p.Arg693Lys)
NM_020937.4(FANCM):c.2088C>T (p.Asp696=) rs2139226635
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.2108dup (p.Thr704fs)
NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala) rs1888283068
NM_020937.4(FANCM):c.2115G>A (p.Leu705=) rs1279241709
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.2138del (p.Leu713fs) rs1594792135
NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu)
NM_020937.4(FANCM):c.2148G>A (p.Glu716=)
NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)
NM_020937.4(FANCM):c.2160+12A>G rs1888288038
NM_020937.4(FANCM):c.2160+9A>G rs947000515
NM_020937.4(FANCM):c.2161-11A>T
NM_020937.4(FANCM):c.2161-4dup rs2139234396
NM_020937.4(FANCM):c.2161-5T>C rs2139234390
NM_020937.4(FANCM):c.2161-7A>G
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.2169A>G (p.Glu723=)
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.2199_2202del (p.Ser734fs) rs762570903
NM_020937.4(FANCM):c.219C>A (p.Gly73=) rs111252426
NM_020937.4(FANCM):c.219C>G (p.Gly73=)
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
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.2212C>T (p.Leu738=) rs2139234741
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.2238A>G (p.Thr746=)
NM_020937.4(FANCM):c.2253C>A (p.His751Gln)
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter) rs1888447684
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer)
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.2260C>T (p.Arg754Ter)
NM_020937.4(FANCM):c.2261G>C (p.Arg754Pro)
NM_020937.4(FANCM):c.2262A>T (p.Arg754=)
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.2283T>G (p.Leu761=)
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.2289A>G (p.Gln763=) rs1431945795
NM_020937.4(FANCM):c.228C>T (p.Cys76=)
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.2310C>T (p.His770=) rs566935444
NM_020937.4(FANCM):c.2316+11_2316+13del rs2139235450
NM_020937.4(FANCM):c.2316+20T>A
NM_020937.4(FANCM):c.2316+2T>A rs2139235421
NM_020937.4(FANCM):c.2316+4G>C
NM_020937.4(FANCM):c.2316G>A (p.Glu772=)
NM_020937.4(FANCM):c.2317-6T>C
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.2335T>C (p.Leu779=) rs1888576727
NM_020937.4(FANCM):c.2336dup (p.Leu779fs) rs1404537579
NM_020937.4(FANCM):c.2340A>G (p.Glu780=)
NM_020937.4(FANCM):c.2342T>A (p.Val781Asp)
NM_020937.4(FANCM):c.2359del (p.Met787fs)
NM_020937.4(FANCM):c.2373C>T (p.Thr791=) rs2139241090
NM_020937.4(FANCM):c.2377A>G (p.Thr793Ala)
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser) rs201232194
NM_020937.4(FANCM):c.2379A>G (p.Thr793=) rs781017322
NM_020937.4(FANCM):c.2380T>C (p.Phe794Leu)
NM_020937.4(FANCM):c.23T>A (p.Leu8His)
NM_020937.4(FANCM):c.2409T>C (p.Asn803=) rs2139241288
NM_020937.4(FANCM):c.240C>T (p.Gly80=) rs1254073558
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.2442A>G (p.Lys814=)
NM_020937.4(FANCM):c.2457G>T (p.Lys819Asn) rs145592211
NM_020937.4(FANCM):c.2460C>T (p.Asn820=) rs199702587
NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser) rs2139241694
NM_020937.4(FANCM):c.2471G>T (p.Gly824Val)
NM_020937.4(FANCM):c.2475T>C (p.Ser825=)
NM_020937.4(FANCM):c.247T>G (p.Trp83Gly) rs1885493663
NM_020937.4(FANCM):c.2492A>C (p.Glu831Ala)
NM_020937.4(FANCM):c.2493A>G (p.Glu831=) rs780819683
NM_020937.4(FANCM):c.2498A>C (p.Asp833Ala)
NM_020937.4(FANCM):c.2501A>C (p.Glu834Ala) rs923735366
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
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.2529T>C (p.Thr843=)
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.2571G>A (p.Val857=) rs2139242297
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.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2589A>G (p.Lys863=) rs1566762145
NM_020937.4(FANCM):c.2589del (p.Asp864fs) rs768006618
NM_020937.4(FANCM):c.2590del (p.Asp864fs) rs1566762159
NM_020937.4(FANCM):c.2599A>G (p.Lys867Glu) rs1888601587
NM_020937.4(FANCM):c.2603A>T (p.Lys868Ile)
NM_020937.4(FANCM):c.2604A>G (p.Lys868=)
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
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.261C>A (p.Thr87=)
NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr) rs1594797856
NM_020937.4(FANCM):c.2629dup (p.Ser877fs) rs1888605629
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.267C>T (p.Cys89=)
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.2760G>C (p.Pro920=) rs145506906
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.2796A>G (p.Lys932=)
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.2805T>C (p.Ser935=) rs1049679142
NM_020937.4(FANCM):c.2812G>T (p.Ala938Ser)
NM_020937.4(FANCM):c.2813C>G (p.Ala938Gly) rs2139244001
NM_020937.4(FANCM):c.2817A>C (p.Gly939=)
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer) rs2139244126
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.2859A>G (p.Lys953=) rs142864437
NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys) rs1594798282
NM_020937.4(FANCM):c.2868A>G (p.Ser956=)
NM_020937.4(FANCM):c.2869T>C (p.Ser957Pro) rs1888628299
NM_020937.4(FANCM):c.2877A>G (p.Leu959=) rs2139244524
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.2925A>G (p.Gln975=) rs1594798411
NM_020937.4(FANCM):c.2952A>C (p.Lys984Asn)
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
NM_020937.4(FANCM):c.2956G>A (p.Val986Ile) rs112345761
NM_020937.4(FANCM):c.2958A>C (p.Val986=) rs779452715
NM_020937.4(FANCM):c.2958A>T (p.Val986=) rs779452715
NM_020937.4(FANCM):c.295T>C (p.Ser99Pro)
NM_020937.4(FANCM):c.2967T>C (p.Asn989=)
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.2982dup (p.Ser995fs)
NM_020937.4(FANCM):c.2990C>A (p.Ser997Tyr)
NM_020937.4(FANCM):c.2991T>G (p.Ser997=)
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly) rs1594798521
NM_020937.4(FANCM):c.3012C>A (p.Leu1004=)
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.3063T>A (p.Leu1021=)
NM_020937.4(FANCM):c.3064T>C (p.Phe1022Leu)
NM_020937.4(FANCM):c.3065T>C (p.Phe1022Ser) rs1263906591
NM_020937.4(FANCM):c.3066C>T (p.Phe1022=) rs1444147003
NM_020937.4(FANCM):c.306T>C (p.Ala102=)
NM_020937.4(FANCM):c.3072C>G (p.Pro1024=) rs749180096
NM_020937.4(FANCM):c.3075T>C (p.Cys1025=) rs1237374207
NM_020937.4(FANCM):c.307C>G (p.Leu103Val) rs768136056
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
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.3136C>T (p.Gln1046Ter)
NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val)
NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser) rs1888655331
NM_020937.4(FANCM):c.3159A>G (p.Ser1053=)
NM_020937.4(FANCM):c.3166T>G (p.Cys1056Gly)
NM_020937.4(FANCM):c.3177T>C (p.Tyr1059=)
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu) rs1171533572
NM_020937.4(FANCM):c.3190del (p.Ser1064fs) rs778191984
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.3213T>C (p.Asn1071=)
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.3235_3238del (p.Leu1080fs)
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.3281T>G (p.Leu1094Ter) rs1555364837
NM_020937.4(FANCM):c.3292A>G (p.Asn1098Asp) rs1888666556
NM_020937.4(FANCM):c.3297T>G (p.Arg1099=)
NM_020937.4(FANCM):c.3300T>C (p.Val1100=) rs2139247394
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.3321A>G (p.Ala1107=) rs2139247556
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.3360C>T (p.Asn1120=) rs2139247801
NM_020937.4(FANCM):c.3363T>C (p.Ser1121=) rs746805378
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.336T>A (p.Pro112=) rs2139102671
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu) rs1594799126
NM_020937.4(FANCM):c.3382A>T (p.Thr1128Ser)
NM_020937.4(FANCM):c.3384T>G (p.Thr1128=) rs1888673774
NM_020937.4(FANCM):c.3394G>A (p.Glu1132Lys)
NM_020937.4(FANCM):c.339C>T (p.Thr113=) rs2139102705
NM_020937.4(FANCM):c.3402G>C (p.Leu1134Phe) rs1888675805
NM_020937.4(FANCM):c.3405G>A (p.Leu1135=)
NM_020937.4(FANCM):c.3410T>G (p.Phe1137Cys) rs774431370
NM_020937.4(FANCM):c.3426A>G (p.Thr1142=) rs1888678554
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.3442_3443del (p.Leu1149fs) rs1888681090
NM_020937.4(FANCM):c.3453C>T (p.Pro1151=)
NM_020937.4(FANCM):c.3455T>C (p.Leu1152Ser) rs948354347
NM_020937.4(FANCM):c.3459C>T (p.Asn1153=) rs200543364
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.3468C>T (p.Ser1156=) rs756947100
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs) rs2139248770
NM_020937.4(FANCM):c.3478C>G (p.Pro1160Ala)
NM_020937.4(FANCM):c.3480T>C (p.Pro1160=) rs2139248830
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.3523C>T (p.Gln1175Ter) rs2139249281
NM_020937.4(FANCM):c.3525G>A (p.Gln1175=) rs761300333
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.3546T>G (p.Leu1182=)
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp) rs1375995948
NM_020937.4(FANCM):c.3567A>G (p.Glu1189=) rs923480918
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.3594T>C (p.Ala1198=) rs2139249785
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
NM_020937.4(FANCM):c.3606A>G (p.Lys1202=)
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.3628C>T (p.Gln1210Ter) 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.3639dup (p.Val1214fs)
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.3657T>C (p.Asp1219=) rs2139250297
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.3663T>C (p.Phe1221=) rs772996800
NM_020937.4(FANCM):c.3664G>C (p.Asp1222His) rs145411480
NM_020937.4(FANCM):c.3669C>T (p.Cys1223=)
NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)
NM_020937.4(FANCM):c.3673A>C (p.Arg1225=) rs751089780
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.3732_3735dup (p.Leu1246fs) rs1159078705
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.3747A>G (p.Thr1249=) rs1017919543
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.3753T>C (p.Asp1251=) rs748733630
NM_020937.4(FANCM):c.3759T>C (p.Asn1253=) rs762631403
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.3780T>C (p.Tyr1260=)
NM_020937.4(FANCM):c.3783A>G (p.Gly1261=)
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.3822T>C (p.Tyr1274=)
NM_020937.4(FANCM):c.3831T>A (p.Asn1277Lys) rs1888717904
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter) rs1888718087
NM_020937.4(FANCM):c.3834A>G (p.Gln1278=)
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
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.3873T>C (p.Ser1291=)
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.3898G>T (p.Glu1300Ter) rs751795256
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.3909G>A (p.Gln1303=) rs1594799961
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.3950dup (p.Asn1317fs) rs2139252496
NM_020937.4(FANCM):c.3960G>C (p.Leu1320Phe)
NM_020937.4(FANCM):c.3962T>C (p.Leu1321Ser)
NM_020937.4(FANCM):c.3963A>G (p.Leu1321=) rs2139252605
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.3975T>G (p.Tyr1325Ter)
NM_020937.4(FANCM):c.3977C>T (p.Ser1326Phe)
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
NM_020937.4(FANCM):c.3988T>C (p.Leu1330=) rs2139252786
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.4002A>G (p.Lys1334=) rs2139252929
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=) rs1888735204
NM_020937.4(FANCM):c.4005del (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4005dup (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)
NM_020937.4(FANCM):c.4017A>G (p.Thr1339=)
NM_020937.4(FANCM):c.4023C>G (p.Leu1341=) rs1594800133
NM_020937.4(FANCM):c.4027A>G (p.Lys1343Glu) rs2139253150
NM_020937.4(FANCM):c.4029A>G (p.Lys1343=)
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.4054A>T (p.Lys1352Ter)
NM_020937.4(FANCM):c.4057A>T (p.Ile1353Leu)
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys) rs1302733474
NM_020937.4(FANCM):c.4068A>G (p.Glu1356=) rs1366630408
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.4101dup (p.Val1368fs) rs747974206
NM_020937.4(FANCM):c.4103T>C (p.Val1368Ala) rs958088496
NM_020937.4(FANCM):c.4113A>G (p.Gln1371=) rs757705970
NM_020937.4(FANCM):c.4115G>T (p.Arg1372Ile) rs1888742620
NM_020937.4(FANCM):c.411G>T (p.Val137=)
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.414C>G (p.Val138=) rs2139103448
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter) rs776133776
NM_020937.4(FANCM):c.4161T>C (p.Ser1387=)
NM_020937.4(FANCM):c.4162C>G (p.Leu1388Val) rs769653358
NM_020937.4(FANCM):c.4162C>T (p.Leu1388=) rs769653358
NM_020937.4(FANCM):c.4163T>C (p.Leu1388Pro)
NM_020937.4(FANCM):c.4174A>G (p.Lys1392Glu)
NM_020937.4(FANCM):c.417C>T (p.Phe139=)
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.4188A>G (p.Pro1396=) rs2139254003
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter) rs1235515288
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+15T>C
NM_020937.4(FANCM):c.4222+15_4222+16insAT rs1177059971
NM_020937.4(FANCM):c.4222+16T>A rs753893593
NM_020937.4(FANCM):c.4222+19A>G
NM_020937.4(FANCM):c.4222+4A>C
NM_020937.4(FANCM):c.4223-15A>C rs2139269896
NM_020937.4(FANCM):c.4223-16A>T
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.426A>C (p.Pro142=)
NM_020937.4(FANCM):c.4274G>A (p.Arg1425Lys) rs2139270169
NM_020937.4(FANCM):c.4277A>G (p.Lys1426Arg)
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
NM_020937.4(FANCM):c.427A>G (p.Thr143Ala)
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
NM_020937.4(FANCM):c.4285del (p.Arg1429fs) rs1227066484
NM_020937.4(FANCM):c.4290A>C (p.Ala1430=)
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
NM_020937.4(FANCM):c.4304_4305insSVAelement
NM_020937.4(FANCM):c.4308C>T (p.Asn1436=)
NM_020937.4(FANCM):c.4317+15A>G
NM_020937.4(FANCM):c.4317+19_4317+46del
NM_020937.4(FANCM):c.4317+7C>G rs1411847222
NM_020937.4(FANCM):c.4317+8A>T rs2139270413
NM_020937.4(FANCM):c.4317+8_4317+16dup
NM_020937.4(FANCM):c.4318-13T>G
NM_020937.4(FANCM):c.4318-15A>G
NM_020937.4(FANCM):c.4318-16dup
NM_020937.4(FANCM):c.4318-2A>G
NM_020937.4(FANCM):c.4318-6C>T rs1594806015
NM_020937.4(FANCM):c.4318-7_4318-4del
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.4329T>C (p.Asn1443=)
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.4380A>T (p.Ile1460=)
NM_020937.4(FANCM):c.4383C>G (p.Asn1461Lys)
NM_020937.4(FANCM):c.4386+13C>A
NM_020937.4(FANCM):c.4386+14A>G
NM_020937.4(FANCM):c.4386+16G>C
NM_020937.4(FANCM):c.4386+1G>A rs1889085249
NM_020937.4(FANCM):c.4386+2dup rs1889085424
NM_020937.4(FANCM):c.4387-12G>A rs776419214
NM_020937.4(FANCM):c.4387-16del
NM_020937.4(FANCM):c.4387-4A>G rs567206367
NM_020937.4(FANCM):c.4387-5_4387-3del rs1566775466
NM_020937.4(FANCM):c.4387-6T>C rs1889209053
NM_020937.4(FANCM):c.4387-8T>C rs1323174217
NM_020937.4(FANCM):c.438G>A (p.Leu146=)
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.4410G>A (p.Glu1470=)
NM_020937.4(FANCM):c.4410G>C (p.Glu1470Asp) rs534488351
NM_020937.4(FANCM):c.4425C>G (p.Pro1475=)
NM_020937.4(FANCM):c.443C>T (p.Thr148Ile)
NM_020937.4(FANCM):c.4447G>C (p.Asp1483His) rs1889215664
NM_020937.4(FANCM):c.444A>T (p.Thr148=)
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg) rs2139278064
NM_020937.4(FANCM):c.4456del (p.Val1486fs) rs1478392446
NM_020937.4(FANCM):c.4461T>C (p.Cys1487=) rs2139278112
NM_020937.4(FANCM):c.4469A>G (p.Asn1490Ser)
NM_020937.4(FANCM):c.4473C>T (p.Ala1491=)
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
NM_020937.4(FANCM):c.4477del (p.Arg1493fs) rs1889219103
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.448C>T (p.Gln150Ter)
NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg)
NM_020937.4(FANCM):c.4498A>C (p.Arg1500=) rs890874156
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys) rs755947203
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs) rs1566775922
NM_020937.4(FANCM):c.4509C>T (p.His1503=) rs2139278586
NM_020937.4(FANCM):c.4515+11_4515+14del rs747887646
NM_020937.4(FANCM):c.4515+14del rs747887646
NM_020937.4(FANCM):c.4515+4A>G
NM_020937.4(FANCM):c.4515+6C>A
NM_020937.4(FANCM):c.4516-16A>C
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_020937.4(FANCM):c.4516-8T>C
NM_020937.4(FANCM):c.4517A>T (p.His1506Leu) rs775457463
NM_020937.4(FANCM):c.4524T>C (p.Ala1508=) rs1275446853
NM_020937.4(FANCM):c.4525A>C (p.Arg1509=)
NM_020937.4(FANCM):c.4527G>A (p.Arg1509=)
NM_020937.4(FANCM):c.4536A>C (p.Leu1512Phe)
NM_020937.4(FANCM):c.4545A>T (p.Glu1515Asp) rs1889323052
NM_020937.4(FANCM):c.4548A>G (p.Ala1516=) rs980940741
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>C (p.Asp1522=) rs375131983
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.4574_4575del (p.Tyr1525fs)
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.4601C>A (p.Ser1534Ter) rs1594810556
NM_020937.4(FANCM):c.4603G>C (p.Glu1535Gln)
NM_020937.4(FANCM):c.4608T>C (p.Asn1536=)
NM_020937.4(FANCM):c.4617T>C (p.Asp1539=)
NM_020937.4(FANCM):c.4619C>T (p.Ser1540Phe) rs1889332251
NM_020937.4(FANCM):c.4620C>G (p.Ser1540=)
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer) rs1594810654
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)
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.465C>T (p.Tyr155=) rs1885520790
NM_020937.4(FANCM):c.4661A>G (p.Gln1554Arg)
NM_020937.4(FANCM):c.4664C>G (p.Ala1555Gly) rs2139284354
NM_020937.4(FANCM):c.4665T>C (p.Ala1555=)
NM_020937.4(FANCM):c.4666A>G (p.Ile1556Val)
NM_020937.4(FANCM):c.4668A>G (p.Ile1556Met)
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter) rs1885521004
NM_020937.4(FANCM):c.4672+10A>G
NM_020937.4(FANCM):c.4672+18C>A
NM_020937.4(FANCM):c.4672+6T>A
NM_020937.4(FANCM):c.4672+7G>C
NM_020937.4(FANCM):c.4672+8T>A
NM_020937.4(FANCM):c.4673-10C>T
NM_020937.4(FANCM):c.4673-12A>T
NM_020937.4(FANCM):c.4673-15C>G rs2139291737
NM_020937.4(FANCM):c.4673-1G>A
NM_020937.4(FANCM):c.4673-2A>C rs2139291763
NM_020937.4(FANCM):c.4673-5C>T
NM_020937.4(FANCM):c.4681A>G (p.Met1561Val) rs2139291810
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=) rs1889498706
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.4758A>G (p.Lys1586=) rs2139292189
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+10A>G
NM_020937.4(FANCM):c.4779+10A>T
NM_020937.4(FANCM):c.4779+14A>T
NM_020937.4(FANCM):c.4779+16A>C
NM_020937.4(FANCM):c.4779+18A>G
NM_020937.4(FANCM):c.4779+1del rs764534989
NM_020937.4(FANCM):c.4779+5_4779+9del rs1889507289
NM_020937.4(FANCM):c.4779+6A>T
NM_020937.4(FANCM):c.4779+7A>T
NM_020937.4(FANCM):c.4780-10T>C
NM_020937.4(FANCM):c.4780-16T>C rs981677198
NM_020937.4(FANCM):c.4780-20T>G
NM_020937.4(FANCM):c.4780-2A>G rs1889569618
NM_020937.4(FANCM):c.4780-4G>A
NM_020937.4(FANCM):c.4780-4G>C rs1486453187
NM_020937.4(FANCM):c.4780-6T>C
NM_020937.4(FANCM):c.4780A>G (p.Ile1594Val)
NM_020937.4(FANCM):c.4805T>C (p.Leu1602Ser)
NM_020937.4(FANCM):c.4809G>A (p.Glu1603=) rs1209233923
NM_020937.4(FANCM):c.480C>T (p.Ile160=) rs753171718
NM_020937.4(FANCM):c.4810G>T (p.Asp1604Tyr)
NM_020937.4(FANCM):c.4812T>C (p.Asp1604=)
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.4851A>G (p.Gln1617=)
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.4859AAG[2] (p.Glu1622del) rs765421461
NM_020937.4(FANCM):c.486A>G (p.Gln162=)
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys) rs1594814788
NM_020937.4(FANCM):c.4896T>C (p.Asp1632=)
NM_020937.4(FANCM):c.4901_4902delinsTT (p.Cys1634Phe)
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
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.4989A>G (p.Lys1663=) rs2139296164
NM_020937.4(FANCM):c.4999ATT[1] (p.Ile1668del)
NM_020937.4(FANCM):c.5001T>A (p.Ile1667=) rs1566782787
NM_020937.4(FANCM):c.5005T>C (p.Leu1669=) rs2139296234
NM_020937.4(FANCM):c.5008C>T (p.Pro1670Ser) rs1594814972
NM_020937.4(FANCM):c.5010A>C (p.Pro1670=)
NM_020937.4(FANCM):c.5022T>C (p.Ser1674=) rs1295913364
NM_020937.4(FANCM):c.5023GAG[2] (p.Glu1677del) rs750497256
NM_020937.4(FANCM):c.5028G>A (p.Glu1676=) rs1294591452
NM_020937.4(FANCM):c.5034C>A (p.Asn1678Lys)
NM_020937.4(FANCM):c.5037T>C (p.Asn1679=) rs2139296506
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.5048_5052del (p.Lys1683fs) rs1566782962
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.5070T>C (p.Val1690=)
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+11C>T
NM_020937.4(FANCM):c.508+17T>C
NM_020937.4(FANCM):c.508+19A>G
NM_020937.4(FANCM):c.508+20T>C
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.5097_5100del (p.Lys1699fs)
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.5118T>C (p.Asn1706=)
NM_020937.4(FANCM):c.511T>C (p.Ser171Pro) rs1885568109
NM_020937.4(FANCM):c.5120C>T (p.Ser1707Leu)
NM_020937.4(FANCM):c.5121A>G (p.Ser1707=)
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.5148C>A (p.Ser1716=) rs201043779
NM_020937.4(FANCM):c.5149A>C (p.Lys1717Gln)
NM_020937.4(FANCM):c.5156G>T (p.Arg1719Leu) rs760421586
NM_020937.4(FANCM):c.5166A>C (p.Pro1722=)
NM_020937.4(FANCM):c.5166A>G (p.Pro1722=) rs753430768
NM_020937.4(FANCM):c.516dup (p.Gln173fs) rs2139106255
NM_020937.4(FANCM):c.5177C>G (p.Pro1726Arg)
NM_020937.4(FANCM):c.5185A>G (p.Lys1729Glu)
NM_020937.4(FANCM):c.5193C>T (p.Ser1731=) rs1016481325
NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu) rs374587255
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=) rs1555367253
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
NM_020937.4(FANCM):c.51C>T (p.Ser17=) rs974750486
NM_020937.4(FANCM):c.5200A>G (p.Thr1734Ala) rs756631911
NM_020937.4(FANCM):c.5201del (p.Thr1734fs) rs2139297782
NM_020937.4(FANCM):c.5202A>T (p.Thr1734=)
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.525C>T (p.Ser175=) rs1594751744
NM_020937.4(FANCM):c.5260A>T (p.Asn1754Tyr)
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
NM_020937.4(FANCM):c.526A>C (p.Thr176Pro)
NM_020937.4(FANCM):c.5270A>G (p.Gln1757Arg)
NM_020937.4(FANCM):c.5277C>G (p.Thr1759=)
NM_020937.4(FANCM):c.5277C>T (p.Thr1759=) rs757298864
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.528C>A (p.Thr176=)
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.52C>T (p.Arg18Ter)
NM_020937.4(FANCM):c.5305C>G (p.Gln1769Glu) rs1277570500
NM_020937.4(FANCM):c.5313C>A (p.Asp1771Glu)
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer) rs1566783809
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr) rs1594815624
NM_020937.4(FANCM):c.5327C>T (p.Pro1776Leu)
NM_020937.4(FANCM):c.5331T>C (p.Val1777=)
NM_020937.4(FANCM):c.5333C>T (p.Pro1778Leu) rs1212903067
NM_020937.4(FANCM):c.5340+10A>C
NM_020937.4(FANCM):c.5340+13G>T rs1566783918
NM_020937.4(FANCM):c.5340+19A>G
NM_020937.4(FANCM):c.5340+2T>C
NM_020937.4(FANCM):c.5340+4T>C
NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr) rs1889624694
NM_020937.4(FANCM):c.5341-10A>G rs900420318
NM_020937.4(FANCM):c.5341-3C>T rs1890043451
NM_020937.4(FANCM):c.5346T>C (p.Gly1782=)
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn) rs997324391
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter) rs1324635932
NM_020937.4(FANCM):c.5367C>T (p.Ser1789=)
NM_020937.4(FANCM):c.5372C>T (p.Ser1791Leu)
NM_020937.4(FANCM):c.5375G>A (p.Gly1792Glu)
NM_020937.4(FANCM):c.5376G>A (p.Gly1792=)
NM_020937.4(FANCM):c.5380del (p.Ser1794fs) rs1890046687
NM_020937.4(FANCM):c.5387C>G (p.Ser1796Cys)
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe) rs1275681669
NM_020937.4(FANCM):c.538del (p.Ile180fs) rs2139106358
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.5409T>A (p.Ala1803=)
NM_020937.4(FANCM):c.5415A>G (p.Thr1805=) rs1594481117
NM_020937.4(FANCM):c.541T>C (p.Trp181Arg) rs1885571765
NM_020937.4(FANCM):c.5424T>C (p.Ser1808=)
NM_020937.4(FANCM):c.5432T>A (p.Leu1811His)
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr) rs3736772
NM_020937.4(FANCM):c.5436G>T (p.Pro1812=) rs377630399
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.5446A>T (p.Lys1816Ter) rs1594481199
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.5466A>G (p.Val1822=) rs990911529
NM_020937.4(FANCM):c.546C>T (p.Cys182=)
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter) rs1354153410
NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp) rs1890053191
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
NM_020937.4(FANCM):c.548G>A (p.Ser183Asn) rs961990525
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) rs1566790465
NM_020937.4(FANCM):c.54A>G (p.Arg18=) rs1885467009
NM_020937.4(FANCM):c.5504C>T (p.Ser1835Phe)
NM_020937.4(FANCM):c.5508C>T (p.Ser1836=)
NM_020937.4(FANCM):c.5513G>A (p.Arg1838Lys)
NM_020937.4(FANCM):c.5523T>C (p.His1841=) rs753441608
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
NM_020937.4(FANCM):c.5532A>T (p.Gln1844His)
NM_020937.4(FANCM):c.5539G>T (p.Val1847Phe)
NM_020937.4(FANCM):c.5565C>T (p.Tyr1855=) rs745364887
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>A (p.Arg1866=) rs771248011
NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser)
NM_020937.4(FANCM):c.5600C>T (p.Ser1867Phe)
NM_020937.4(FANCM):c.5604A>G (p.Gln1868=) rs1271195801
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.5628T>C (p.Asn1876=) rs1039452790
NM_020937.4(FANCM):c.5652C>A (p.Ile1884=)
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.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
NM_020937.4(FANCM):c.5680A>G (p.Ile1894Val)
NM_020937.4(FANCM):c.5682A>G (p.Ile1894Met)
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
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.5703C>T (p.Asp1901=)
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
NM_020937.4(FANCM):c.5713A>G (p.Thr1905Ala)
NM_020937.4(FANCM):c.5716+16T>C
NM_020937.4(FANCM):c.5716+23_5716+26del rs745329742
NM_020937.4(FANCM):c.5716+5G>A
NM_020937.4(FANCM):c.5716+6T>C
NM_020937.4(FANCM):c.5716+7A>G
NM_020937.4(FANCM):c.5717-10G>T rs939194173
NM_020937.4(FANCM):c.5717-18C>T
NM_020937.4(FANCM):c.5717-19C>T
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.5749_5750del (p.Ser1917fs) rs1203346034
NM_020937.4(FANCM):c.5750G>A (p.Ser1917Asn)
NM_020937.4(FANCM):c.5760C>T (p.Ser1920=)
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
NM_020937.4(FANCM):c.5769T>C (p.Thr1923=) rs775627849
NM_020937.4(FANCM):c.576G>A (p.Gln192=)
NM_020937.4(FANCM):c.5771C>T (p.Thr1924Ile)
NM_020937.4(FANCM):c.577G>T (p.Val193Phe)
NM_020937.4(FANCM):c.5781C>T (p.Gly1927=)
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.5811C>T (p.Cys1937=) rs2139328462
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
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.5835A>G (p.Leu1945=) rs752621594
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.5844G>A (p.Leu1948=)
NM_020937.4(FANCM):c.5844G>C (p.Leu1948=)
NM_020937.4(FANCM):c.5853G>A (p.Val1951=)
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.5889A>G (p.Thr1963=)
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+12G>A rs980668545
NM_020937.4(FANCM):c.6008+1G>A rs984955481
NM_020937.4(FANCM):c.6008+4T>C
NM_020937.4(FANCM):c.6008+9G>A rs2139329468
NM_020937.4(FANCM):c.6009-8T>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.6090T>C (p.Phe2030=)
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.6117T>A (p.Leu2039=)
NM_020937.4(FANCM):c.6122_6125del (p.Gln2041fs)
NM_020937.4(FANCM):c.6135A>G (p.Lys2045=)
NM_020937.4(FANCM):c.6137C>A (p.Ser2046Tyr)
NM_020937.4(FANCM):c.6138T>C (p.Ser2046=) rs746677351
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=) rs746677351
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.639T>C (p.Ile213=)
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.660C>T (p.Leu220=)
NM_020937.4(FANCM):c.661G>A (p.Gly221Arg)
NM_020937.4(FANCM):c.666C>T (p.Asn222=) rs2139107219
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys) rs1594751903
NM_020937.4(FANCM):c.681+11T>G
NM_020937.4(FANCM):c.681+16A>G
NM_020937.4(FANCM):c.681+19G>A rs1423581956
NM_020937.4(FANCM):c.681+20G>T
NM_020937.4(FANCM):c.681+7A>C
NM_020937.4(FANCM):c.682-14T>G
NM_020937.4(FANCM):c.682-21_682-20delinsTG
NM_020937.4(FANCM):c.682-2A>G rs1885847871
NM_020937.4(FANCM):c.682-4T>C rs1566721529
NM_020937.4(FANCM):c.682-5T>G
NM_020937.4(FANCM):c.682-6del rs775413053
NM_020937.4(FANCM):c.682-6dup
NM_020937.4(FANCM):c.682-7del rs759364320
NM_020937.4(FANCM):c.682-7dup rs759364320
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.69G>C (p.Pro23=)
NM_020937.4(FANCM):c.705T>C (p.Tyr235=) rs567726889
NM_020937.4(FANCM):c.708_714del (p.Asn237fs) rs1885850135
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)
NM_020937.4(FANCM):c.710A>G (p.Asn237Ser) rs760977059
NM_020937.4(FANCM):c.710del (p.Asn237fs) rs1340295590
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.730C>T (p.Leu244=) 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+19C>T
NM_020937.4(FANCM):c.759+19dup
NM_020937.4(FANCM):c.759+2T>C rs902753970
NM_020937.4(FANCM):c.759+2dup rs1885856344
NM_020937.4(FANCM):c.75C>T (p.Cys25=) rs1885469049
NM_020937.4(FANCM):c.760-19C>T rs2139151206
NM_020937.4(FANCM):c.760-19_760-16del
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.784C>T (p.Leu262=) rs574219989
NM_020937.4(FANCM):c.786G>A (p.Leu262=)
NM_020937.4(FANCM):c.787C>A (p.Leu263Ile) rs1594766754
NM_020937.4(FANCM):c.78C>T (p.Ser26=)
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.81C>T (p.Ser27=) rs1388168603
NM_020937.4(FANCM):c.81del (p.Gly28fs) rs2139099848
NM_020937.4(FANCM):c.821C>A (p.Ser274Tyr)
NM_020937.4(FANCM):c.825A>G (p.Pro275=)
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.855del (p.Val286fs) rs2139151883
NM_020937.4(FANCM):c.865C>G (p.Leu289Val) rs1594766833
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
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.876G>A (p.Pro292=) rs150757891
NM_020937.4(FANCM):c.876G>T (p.Pro292=) rs150757891
NM_020937.4(FANCM):c.877C>T (p.Leu293Phe) rs1886627288
NM_020937.4(FANCM):c.888A>G (p.Glu296=)
NM_020937.4(FANCM):c.893C>T (p.Ala298Val) rs1316547284
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
NM_020937.4(FANCM):c.903A>G (p.Gln301=)
NM_020937.4(FANCM):c.908C>A (p.Thr303Asn) rs980293400
NM_020937.4(FANCM):c.909_910del (p.Ile305fs) rs1886630094
NM_020937.4(FANCM):c.912T>C (p.Tyr304=) rs2139152230
NM_020937.4(FANCM):c.915C>T (p.Ile305=)
NM_020937.4(FANCM):c.918+12_918+13del
NM_020937.4(FANCM):c.918+17A>G
NM_020937.4(FANCM):c.918+8A>G rs917973556
NM_020937.4(FANCM):c.919-19A>G
NM_020937.4(FANCM):c.920T>C (p.Ile307Thr) rs2139159942
NM_020937.4(FANCM):c.924G>A (p.Leu308=) rs756513033
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.993A>G (p.Lys331=)
NM_020937.4(FANCM):c.998A>G (p.Gln333Arg) rs922819033
NM_020937.4(FANCM):c.9A>G (p.Gly3=) rs2139099234
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del) rs2150885287
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu)
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)
NM_021922.3(FANCE):c.1023C>T (p.Leu341=) rs1767435236
NM_021922.3(FANCE):c.1029G>A (p.Arg343=)
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.1041G>A (p.Trp347Ter)
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
NM_021922.3(FANCE):c.1044G>A (p.Leu348=)
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.105G>A (p.Ala35=)
NM_021922.3(FANCE):c.105G>C (p.Ala35=)
NM_021922.3(FANCE):c.1068C>T (p.Ser356=)
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
NM_021922.3(FANCE):c.1087C>T (p.Leu363=)
NM_021922.3(FANCE):c.108G>T (p.Gly36=)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+10T>C
NM_021922.3(FANCE):c.1113+11T>C
NM_021922.3(FANCE):c.1113+15A>T
NM_021922.3(FANCE):c.1113+1G>A rs2150895088
NM_021922.3(FANCE):c.1113+20C>T
NM_021922.3(FANCE):c.1113+6T>C rs764119752
NM_021922.3(FANCE):c.1114-11G>T
NM_021922.3(FANCE):c.1114-16T>G rs2150896195
NM_021922.3(FANCE):c.1114-17C>T
NM_021922.3(FANCE):c.1114-17del
NM_021922.3(FANCE):c.1114-3T>C
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA rs1767491456
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro) rs113175592
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
NM_021922.3(FANCE):c.1131C>A (p.Ser377=)
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.1141_1144del (p.Arg381fs) rs2150896309
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro) rs2150896332
NM_021922.3(FANCE):c.1155T>C (p.Thr385=)
NM_021922.3(FANCE):c.1158C>A (p.Ala386=)
NM_021922.3(FANCE):c.1164C>T (p.Thr388=) rs2150896392
NM_021922.3(FANCE):c.1176C>G (p.Ala392=) rs1581704152
NM_021922.3(FANCE):c.1176C>T (p.Ala392=)
NM_021922.3(FANCE):c.1182T>C (p.Tyr394=)
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.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe) rs1256696675
NM_021922.3(FANCE):c.1206C>T (p.Leu402=)
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp) rs1767153896
NM_021922.3(FANCE):c.1221C>G (p.Leu407=) rs752130850
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp) rs1767499219
NM_021922.3(FANCE):c.1237+14C>T
NM_021922.3(FANCE):c.1237+18C>T
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1237+20C>T
NM_021922.3(FANCE):c.1237+7C>T
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser) rs757769907
NM_021922.3(FANCE):c.1238-13del
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
NM_021922.3(FANCE):c.1254G>A (p.Glu418=)
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
NM_021922.3(FANCE):c.1258C>T (p.Leu420=)
NM_021922.3(FANCE):c.1260G>T (p.Leu420=)
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.1266C>T (p.Cys422=)
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.1284C>G (p.Ser428=)
NM_021922.3(FANCE):c.128G>T (p.Gly43Val) rs1767154137
NM_021922.3(FANCE):c.1296T>C (p.Asp432=)
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg) rs2150897316
NM_021922.3(FANCE):c.1316+13G>A
NM_021922.3(FANCE):c.1316+20T>C rs2150897379
NM_021922.3(FANCE):c.1317-18A>G
NM_021922.3(FANCE):c.1317-7T>C
NM_021922.3(FANCE):c.1317-9G>A
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
NM_021922.3(FANCE):c.1332G>A (p.Leu444=)
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.1344G>A (p.Glu448=)
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.1353C>T (p.Phe451=) rs2150898463
NM_021922.3(FANCE):c.1354T>C (p.Leu452=)
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
NM_021922.3(FANCE):c.1359G>A (p.Val453=)
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.1371C>T (p.Leu457=)
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
NM_021922.3(FANCE):c.1374A>G (p.Leu458=)
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly) rs200535245
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+10C>T rs1060504374
NM_021922.3(FANCE):c.1383+12G>T
NM_021922.3(FANCE):c.1383+13C>T
NM_021922.3(FANCE):c.1383+15C>G rs1426965534
NM_021922.3(FANCE):c.1383+16T>C
NM_021922.3(FANCE):c.1383+17G>A
NM_021922.3(FANCE):c.1383+17G>C
NM_021922.3(FANCE):c.1383+20dup rs770300367
NM_021922.3(FANCE):c.1383+6C>G rs763606597
NM_021922.3(FANCE):c.1383+8G>C
NM_021922.3(FANCE):c.1384-10A>T rs2150901325
NM_021922.3(FANCE):c.1384-16C>A
NM_021922.3(FANCE):c.1384-19C>T
NM_021922.3(FANCE):c.138G>A (p.Val46=) rs2150885789
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile) rs759978029
NM_021922.3(FANCE):c.1398T>C (p.Pro466=)
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
NM_021922.3(FANCE):c.1413C>T (p.Val471=)
NM_021922.3(FANCE):c.141C>T (p.Leu47=)
NM_021922.3(FANCE):c.1428C>T (p.Leu476=)
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu) rs1242729665
NM_021922.3(FANCE):c.1440G>T (p.Gly480=) rs757745455
NM_021922.3(FANCE):c.1452C>G (p.Thr484=)
NM_021922.3(FANCE):c.1455C>T (p.Thr485=)
NM_021922.3(FANCE):c.1459A>G (p.Met487Val) rs373735272
NM_021922.3(FANCE):c.1464C>G (p.Ala488=)
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe) rs1345207143
NM_021922.3(FANCE):c.1476C>T (p.Leu492=)
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.1488G>A (p.Val496=)
NM_021922.3(FANCE):c.1494C>T (p.Thr498=)
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+13A>G
NM_021922.3(FANCE):c.1509+14G>A
NM_021922.3(FANCE):c.1509+14G>C
NM_021922.3(FANCE):c.1509+16G>T rs2150901703
NM_021922.3(FANCE):c.1509+17C>A rs748424208
NM_021922.3(FANCE):c.1509+3G>A rs773938335
NM_021922.3(FANCE):c.1509+7A>G rs1021695027
NM_021922.3(FANCE):c.1509+8T>G
NM_021922.3(FANCE):c.1510-10T>G
NM_021922.3(FANCE):c.1510-13T>A
NM_021922.3(FANCE):c.1510-15T>C
NM_021922.3(FANCE):c.1510-17T>C
NM_021922.3(FANCE):c.1510-6C>T
NM_021922.3(FANCE):c.1510-9T>C rs369210475
NM_021922.3(FANCE):c.1512C>T (p.Ile504=)
NM_021922.3(FANCE):c.1515T>C (p.Thr505=)
NM_021922.3(FANCE):c.1518G>A (p.Glu506=)
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.153C>T (p.Gly51=)
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.1587C>T (p.Ala529=)
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.159C>G (p.Arg53=)
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)
NM_021922.3(FANCE):c.1600T>C (p.Leu534=)
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.1608C>T (p.Pro536=)
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?) rs1767835895
NM_021922.3(FANCE):c.162C>T (p.Gly54=)
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter) rs2150885915
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.174C>T (p.Phe58=)
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.18G>T (p.Ala6=) rs962145261
NM_021922.3(FANCE):c.192C>G (p.Leu64=)
NM_021922.3(FANCE):c.199C>T (p.Leu67=) rs1161408735
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro) rs1767159493
NM_021922.3(FANCE):c.207G>T (p.Arg69=)
NM_021922.3(FANCE):c.209del (p.Glu70fs)
NM_021922.3(FANCE):c.216G>A (p.Pro72=)
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)
NM_021922.3(FANCE):c.222G>C (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.222G>T (p.Val74=) rs1015415361
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.248+11G>A
NM_021922.3(FANCE):c.248+11G>C
NM_021922.3(FANCE):c.248+13C>T
NM_021922.3(FANCE):c.248+14C>A
NM_021922.3(FANCE):c.248+19C>T
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro) rs1767163490
NM_021922.3(FANCE):c.249-11C>A
NM_021922.3(FANCE):c.249-18T>C
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.259T>C (p.Leu87=)
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr) rs956659254
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)
NM_021922.3(FANCE):c.265C>A (p.Arg89=)
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.273C>T (p.Pro91=)
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu) rs1767301656
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.304C>T (p.Leu102=)
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG rs2150889955
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.318G>A (p.Arg106=)
NM_021922.3(FANCE):c.325C>T (p.Leu109=)
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.342C>T (p.Leu114=)
NM_021922.3(FANCE):c.345C>T (p.Leu115=)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.351G>A (p.Val117=)
NM_021922.3(FANCE):c.358A>G (p.Ile120Val) rs201961713
NM_021922.3(FANCE):c.363C>G (p.Ala121=)
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
NM_021922.3(FANCE):c.373C>T (p.Leu125=)
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His) rs2150890289
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
NM_021922.3(FANCE):c.39C>T (p.Gly13=)
NM_021922.3(FANCE):c.405C>T (p.Ala135=) rs1767311517
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
NM_021922.3(FANCE):c.415T>C (p.Leu139=)
NM_021922.3(FANCE):c.421C>A (p.Arg141=)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
NM_021922.3(FANCE):c.426G>A (p.Arg142=)
NM_021922.3(FANCE):c.430T>C (p.Leu144=) rs1377892215
NM_021922.3(FANCE):c.435G>C (p.Gly145=)
NM_021922.3(FANCE):c.438G>A (p.Val146=)
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu) rs1220564322
NM_021922.3(FANCE):c.444C>G (p.Thr148=)
NM_021922.3(FANCE):c.447C>G (p.Ser149=)
NM_021922.3(FANCE):c.448A>G (p.Met150Val) rs1489457999
NM_021922.3(FANCE):c.456A>C (p.Gly152=)
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.465A>G (p.Pro155=)
NM_021922.3(FANCE):c.465A>T (p.Pro155=)
NM_021922.3(FANCE):c.477A>G (p.Arg159=)
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys) rs1767316578
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
NM_021922.3(FANCE):c.519G>A (p.Leu173=)
NM_021922.3(FANCE):c.519G>C (p.Leu173=)
NM_021922.3(FANCE):c.519G>T (p.Leu173=)
NM_021922.3(FANCE):c.51G>T (p.Ala17=)
NM_021922.3(FANCE):c.521G>T (p.Gly174Val) rs1014679374
NM_021922.3(FANCE):c.525C>T (p.Gly175=)
NM_021922.3(FANCE):c.531G>A (p.Arg177=)
NM_021922.3(FANCE):c.538del (p.Ser180fs)
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.543C>G (p.Pro181=)
NM_021922.3(FANCE):c.54C>T (p.Pro18=)
NM_021922.3(FANCE):c.552A>G (p.Pro184=)
NM_021922.3(FANCE):c.561A>G (p.Glu187=) rs1554121329
NM_021922.3(FANCE):c.564A>G (p.Glu188=)
NM_021922.3(FANCE):c.567G>A (p.Glu189=)
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu) rs2150891086
NM_021922.3(FANCE):c.597A>G (p.Lys199=)
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)
NM_021922.3(FANCE):c.600C>T (p.Arg200=)
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
NM_021922.3(FANCE):c.618A>G (p.Glu206=)
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
NM_021922.3(FANCE):c.627C>G (p.Ala209=)
NM_021922.3(FANCE):c.636G>A (p.Glu212=)
NM_021922.3(FANCE):c.642G>A (p.Lys214=)
NM_021922.3(FANCE):c.663G>T (p.Arg221=)
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.702C>G (p.Pro234=)
NM_021922.3(FANCE):c.702C>T (p.Pro234=)
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
NM_021922.3(FANCE):c.711G>A (p.Lys237=)
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp) rs1045892220
NM_021922.3(FANCE):c.720A>G (p.Glu240=)
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe) rs933204286
NM_021922.3(FANCE):c.723C>T (p.Ser241=)
NM_021922.3(FANCE):c.726G>A (p.Leu242=)
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
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.753_756dup (p.Asp253Ter)
NM_021922.3(FANCE):c.756G>A (p.Lys252=)
NM_021922.3(FANCE):c.759C>T (p.Asp253=) rs200243667
NM_021922.3(FANCE):c.75C>T (p.Pro25=)
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)
NM_021922.3(FANCE):c.768C>T (p.Val256=)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.777T>G (p.Val259=)
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
NM_021922.3(FANCE):c.798G>T (p.Ser266=) rs746542545
NM_021922.3(FANCE):c.807T>C (p.Asp269=)
NM_021922.3(FANCE):c.812C>T (p.Ala271Val) rs1060501874
NM_021922.3(FANCE):c.813T>C (p.Ala271=)
NM_021922.3(FANCE):c.818G>T (p.Gly273Val) rs1468356265
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
NM_021922.3(FANCE):c.832T>C (p.Leu278=)
NM_021922.3(FANCE):c.838T>C (p.Leu280=)
NM_021922.3(FANCE):c.855+17A>T
NM_021922.3(FANCE):c.855+18C>G
NM_021922.3(FANCE):c.855+4C>G
NM_021922.3(FANCE):c.855+8G>A
NM_021922.3(FANCE):c.855+9G>A
NM_021922.3(FANCE):c.856-11C>T
NM_021922.3(FANCE):c.856-14G>T
NM_021922.3(FANCE):c.856-18C>T
NM_021922.3(FANCE):c.856-20G>T
NM_021922.3(FANCE):c.856-6C>T
NM_021922.3(FANCE):c.856-7T>C
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg) rs1767398617
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
NM_021922.3(FANCE):c.880C>T (p.Leu294=)
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.897G>A (p.Glu299=) rs2150893491
NM_021922.3(FANCE):c.901-10G>A
NM_021922.3(FANCE):c.901-15G>C
NM_021922.3(FANCE):c.901-3del
NM_021922.3(FANCE):c.901-5C>T
NM_021922.3(FANCE):c.901-6C>T
NM_021922.3(FANCE):c.901-7T>C rs2150893886
NM_021922.3(FANCE):c.903G>A (p.Gly301=) rs781287698
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln) rs1470052853
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter) rs1767152512
NM_021922.3(FANCE):c.927C>G (p.Pro309=) rs763403812
NM_021922.3(FANCE):c.927C>T (p.Pro309=)
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.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.930A>G (p.Pro310=)
NM_021922.3(FANCE):c.931dup (p.Val311fs)
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.967C>T (p.Gln323Ter) rs1767417868
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg) rs1034716031
NM_021922.3(FANCE):c.969+11A>T
NM_021922.3(FANCE):c.969+18C>T
NM_021922.3(FANCE):c.969+20T>A
NM_021922.3(FANCE):c.969+7C>T
NM_021922.3(FANCE):c.969+9A>C
NM_021922.3(FANCE):c.96G>T (p.Ala32=)
NM_021922.3(FANCE):c.970-12C>T
NM_021922.3(FANCE):c.970-16C>G rs117779586
NM_021922.3(FANCE):c.970-18C>A rs1376629458
NM_021922.3(FANCE):c.970-18C>T
NM_021922.3(FANCE):c.970-20C>G rs765193137
NM_021922.3(FANCE):c.970-6A>G
NM_021922.3(FANCE):c.970-6A>T rs1206121566
NM_021922.3(FANCE):c.970-8G>A
NM_021922.3(FANCE):c.970-9T>G
NM_021922.3(FANCE):c.975C>T (p.Asp325=)
NM_021922.3(FANCE):c.976T>C (p.Leu326=)
NM_021922.3(FANCE):c.981G>T (p.Leu327=) rs772385794
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_022725.4(FANCF):c.-10C>T rs3740615
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val) rs772941983
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly) rs2133796304
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)
NM_022725.4(FANCF):c.1035C>T (p.Ser345=) rs1554963603
NM_022725.4(FANCF):c.1038C>T (p.Ile346=)
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter) rs587778343
NM_022725.4(FANCF):c.1044A>G (p.Thr348=) rs2133796228
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp) rs2133798660
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.123dup (p.Arg42fs) rs1858636931
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)
NM_022725.4(FANCF):c.133_136del (p.His45fs)
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.147T>G (p.Gly49=)
NM_022725.4(FANCF):c.156C>T (p.Gly52=)
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.183G>A (p.Arg61=)
NM_022725.4(FANCF):c.184C>T (p.Leu62=) rs2133798493
NM_022725.4(FANCF):c.186G>T (p.Leu62=)
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.192C>T (p.Asn64=)
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro)
NM_022725.4(FANCF):c.203A>G (p.Gln68Arg)
NM_022725.4(FANCF):c.204A>G (p.Gln68=)
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser) rs1590542146
NM_022725.4(FANCF):c.214T>G (p.Phe72Val)
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
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.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.231T>C (p.Val77=)
NM_022725.4(FANCF):c.236del (p.Gly79fs)
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)
NM_022725.4(FANCF):c.249C>T (p.Phe83=) rs1858633603
NM_022725.4(FANCF):c.24G>A (p.Leu8=) rs1035401874
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs) rs2133798885
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr)
NM_022725.4(FANCF):c.258C>A (p.Leu86=) rs146352365
NM_022725.4(FANCF):c.258C>T (p.Leu86=) rs146352365
NM_022725.4(FANCF):c.260G>T (p.Gly87Val)
NM_022725.4(FANCF):c.267T>C (p.Cys89=)
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly) rs746415789
NM_022725.4(FANCF):c.276G>C (p.Leu92=) rs757554175
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys)
NM_022725.4(FANCF):c.291G>A (p.Leu97=)
NM_022725.4(FANCF):c.291G>C (p.Leu97=) rs1418187939
NM_022725.4(FANCF):c.292C>T (p.Leu98=)
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.306C>T (p.Ala102=)
NM_022725.4(FANCF):c.309C>T (p.Leu103=)
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.326dup (p.Tyr109Ter) rs2133798073
NM_022725.4(FANCF):c.345C>A (p.Leu115=) rs749884571
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) rs372625322
NM_022725.4(FANCF):c.351C>T (p.Pro117=)
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser)
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys) rs1060501871
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp)
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)
NM_022725.4(FANCF):c.36C>G (p.Ser12=) rs1353229536
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser) rs201357673
NM_022725.4(FANCF):c.378G>A (p.Glu126=) rs1318651729
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.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)
NM_022725.4(FANCF):c.3G>A (p.Met1Ile) rs2133798927
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.420G>A (p.Arg140=)
NM_022725.4(FANCF):c.429G>A (p.Val143=)
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.462C>T (p.Asn154=) rs2133797693
NM_022725.4(FANCF):c.471C>A (p.Leu157=) rs201136733
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.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.489G>C (p.Met163Ile) rs1590541541
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile)
NM_022725.4(FANCF):c.49G>A (p.Val17Ile)
NM_022725.4(FANCF):c.49G>T (p.Val17Phe) rs758897077
NM_022725.4(FANCF):c.501G>A (p.Ala167=)
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln)
NM_022725.4(FANCF):c.507G>A (p.Leu169=)
NM_022725.4(FANCF):c.50T>C (p.Val17Ala)
NM_022725.4(FANCF):c.51C>T (p.Val17=) rs2133798809
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)
NM_022725.4(FANCF):c.538del (p.Ala180fs)
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.555C>T (p.Pro185=) rs1156693900
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys) rs1231820160
NM_022725.4(FANCF):c.600C>T (p.Asn200=) rs143713546
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022725.4(FANCF):c.606G>T (p.Leu202=)
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr) rs764300983
NM_022725.4(FANCF):c.615A>T (p.Ile205=) rs1858624791
NM_022725.4(FANCF):c.618G>C (p.Ala206=) rs1056134185
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.633G>A (p.Gln211=)
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln) rs1590541259
NM_022725.4(FANCF):c.636G>T (p.Pro212=) rs2133797243
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
NM_022725.4(FANCF):c.645T>A (p.Ser215=) rs2133797216
NM_022725.4(FANCF):c.654C>T (p.Pro218=)
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg) rs1230568893
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys) rs1590542501
NM_022725.4(FANCF):c.664T>C (p.Leu222=)
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
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>T (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.69C>T (p.Val23=) rs987030810
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly) rs1858638724
NM_022725.4(FANCF):c.724C>T (p.Leu242=)
NM_022725.4(FANCF):c.750C>A (p.Ala250=)
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)
NM_022725.4(FANCF):c.762C>A (p.Ala254=) rs1230699102
NM_022725.4(FANCF):c.763C>G (p.Leu255Val)
NM_022725.4(FANCF):c.765C>T (p.Leu255=)
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)
NM_022725.4(FANCF):c.771C>G (p.Ala257=)
NM_022725.4(FANCF):c.771C>T (p.Ala257=)
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.822T>C (p.Tyr274=)
NM_022725.4(FANCF):c.823C>T (p.Leu275=) rs1858619649
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.849A>G (p.Gln283=) rs146848948
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
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.861T>C (p.Tyr287=) rs1029853294
NM_022725.4(FANCF):c.864C>T (p.Asp288=)
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.885T>G (p.Val295=) rs761238804
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.88dup (p.Thr30fs)
NM_022725.4(FANCF):c.891T>G (p.Thr297=) rs1060504373
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.90C>A (p.Thr30=)
NM_022725.4(FANCF):c.90C>T (p.Thr30=) rs544395896
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.924C>T (p.His308=)
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.96C>G (p.Arg32=) rs151253274
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup) rs1554963731
NM_022725.4(FANCF):c.987G>C (p.Leu329=) rs2133796354
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.993C>A (p.Thr331=)
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)
NM_022725.4(FANCF):c.9C>A (p.Ser3=)
NM_022725.4(FANCF):c.9C>T (p.Ser3=) rs1404225853
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met) rs1064793123
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)
NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)
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.1081+16T>C rs1414301323
NM_023110.3(FGFR1):c.1081+1G>A
NM_023110.3(FGFR1):c.1081+20_1081+22del
NM_023110.3(FGFR1):c.1081+8C>G
NM_023110.3(FGFR1):c.1081+9T>C
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
NM_023110.3(FGFR1):c.1082-12G>A
NM_023110.3(FGFR1):c.1082-20C>T
NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser)
NM_023110.3(FGFR1):c.1113G>A (p.Ser371=)
NM_023110.3(FGFR1):c.111del (p.Val38fs)
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) rs121909634
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.1179G>T (p.Ser393=) rs374674165
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)
NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys) rs1817962450
NM_023110.3(FGFR1):c.1239T>C (p.Ala413=)
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg) rs2150706408
NM_023110.3(FGFR1):c.1245C>T (p.His415=)
NM_023110.3(FGFR1):c.1248G>A (p.Lys416=)
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg) rs1232639613
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs) rs2150705198
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
NM_023110.3(FGFR1):c.1272C>T (p.Arg424=)
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
NM_023110.3(FGFR1):c.1285-20G>A
NM_023110.3(FGFR1):c.1285-5T>C
NM_023110.3(FGFR1):c.1285-8C>A rs1235765985
NM_023110.3(FGFR1):c.1285-8C>G
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=) rs1377886104
NM_023110.3(FGFR1):c.1324C>T (p.Leu442Phe)
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)
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.1356T>C (p.Ser452=)
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.141C>G (p.Pro47=) rs553706848
NM_023110.3(FGFR1):c.141C>T (p.Pro47=)
NM_023110.3(FGFR1):c.1430+1G>A rs1554552774
NM_023110.3(FGFR1):c.1430+4A>G
NM_023110.3(FGFR1):c.1430+7_1430+9del rs772340109
NM_023110.3(FGFR1):c.1431-10C>T
NM_023110.3(FGFR1):c.1431-19T>A
NM_023110.3(FGFR1):c.1431-20CT[2] rs774739614
NM_023110.3(FGFR1):c.1431-7C>T
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=) rs2150658041
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) rs869025670
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)
NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)
NM_023110.3(FGFR1):c.1512del (p.Lys504fs) rs1817280576
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+12T>C rs777138222
NM_023110.3(FGFR1):c.1552+5G>A
NM_023110.3(FGFR1):c.1552+8A>G
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
NM_023110.3(FGFR1):c.1553-14C>T
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) rs1817052708
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)
NM_023110.3(FGFR1):c.162C>G (p.Arg54=)
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
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.1663+20G>A
NM_023110.3(FGFR1):c.1664-18C>T
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val) rs2150591908
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=) rs1019589019
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=) rs2150591250
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.1716C>T (p.Tyr572=)
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp) rs1162148796
NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=) rs2150585961
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr) rs2150585866
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
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.1815C>T (p.Tyr605=) rs374740971
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)
NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)
NM_023110.3(FGFR1):c.1854+14A>C
NM_023110.3(FGFR1):c.1854+15_1854+31del
NM_023110.3(FGFR1):c.1854+17C>G
NM_023110.3(FGFR1):c.1854+17C>T
NM_023110.3(FGFR1):c.1854+7A>T
NM_023110.3(FGFR1):c.1855-14_1855-11del
NM_023110.3(FGFR1):c.1855-2A>G
NM_023110.3(FGFR1):c.1855-5C>T
NM_023110.3(FGFR1):c.1855-8T>C
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln) rs1815818452
NM_023110.3(FGFR1):c.1875A>G (p.Ala625=)
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
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.1932C>T (p.Leu644=)
NM_023110.3(FGFR1):c.1946del (p.His649fs)
NM_023110.3(FGFR1):c.1948del (p.His650fs)
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
NM_023110.3(FGFR1):c.1977+12C>G
NM_023110.3(FGFR1):c.1977+15G>A
NM_023110.3(FGFR1):c.1977+19G>A
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.1977+20C>T
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
NM_023110.3(FGFR1):c.1978-15C>T
NM_023110.3(FGFR1):c.1978-17C>T
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
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.2046T>C (p.Asp682=)
NM_023110.3(FGFR1):c.2048+13T>C
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)
NM_023110.3(FGFR1):c.2049-1G>A
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445
NM_023110.3(FGFR1):c.207C>T (p.Asp69=)
NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) rs267606806
NM_023110.3(FGFR1):c.2186+11G>A
NM_023110.3(FGFR1):c.2186+12_2186+14del rs1218085532
NM_023110.3(FGFR1):c.2186+20G>A
NM_023110.3(FGFR1):c.2186+9G>A
NM_023110.3(FGFR1):c.2187-13A>G
NM_023110.3(FGFR1):c.2187-15A>G
NM_023110.3(FGFR1):c.2187-18C>G rs2150525040
NM_023110.3(FGFR1):c.2187-19C>A rs376583717
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2187-4G>A
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
NM_023110.3(FGFR1):c.222G>A (p.Ala74=)
NM_023110.3(FGFR1):c.222G>C (p.Ala74=) rs748896706
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
NM_023110.3(FGFR1):c.228C>T (p.Ser76=)
NM_023110.3(FGFR1):c.2292+12C>T
NM_023110.3(FGFR1):c.2292+13G>A
NM_023110.3(FGFR1):c.2292+9G>A rs2150517873
NM_023110.3(FGFR1):c.2293-12C>G
NM_023110.3(FGFR1):c.2293-12C>T
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
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.2367C>T (p.Ser789=)
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)
NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)
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.2406C>T (p.Pro802=) rs573344794
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.2430C>T (p.His810=)
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=) rs770921947
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.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.256G>A (p.Val86Met) rs1404670039
NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
NM_023110.3(FGFR1):c.279C>G (p.Pro93=) rs781034707
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
NM_023110.3(FGFR1):c.27C>T (p.Phe9=)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) 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.302G>T (p.Cys101Phe)
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
NM_023110.3(FGFR1):c.321G>A (p.Ser107=)
NM_023110.3(FGFR1):c.330C>T (p.Asp110=)
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
NM_023110.3(FGFR1):c.33T>C (p.Ala11=)
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser) rs2150955298
NM_023110.3(FGFR1):c.342C>T (p.Phe114=)
NM_023110.3(FGFR1):c.358+11A>G
NM_023110.3(FGFR1):c.358+18G>A rs375458309
NM_023110.3(FGFR1):c.358+19C>A
NM_023110.3(FGFR1):c.358+9C>A
NM_023110.3(FGFR1):c.359-15TTC[2] rs768778460
NM_023110.3(FGFR1):c.359-18C>T rs1177584027
NM_023110.3(FGFR1):c.359-5C>G
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
NM_023110.3(FGFR1):c.363T>A (p.Ala121=)
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
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.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.411G>A (p.Glu137=) rs1010621186
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
NM_023110.3(FGFR1):c.42C>T (p.Val14=)
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.449-4dup
NM_023110.3(FGFR1):c.449-6G>A
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro) rs1033377277
NM_023110.3(FGFR1):c.471C>G (p.Ser157=) rs376497452
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu) rs1413642890
NM_023110.3(FGFR1):c.51A>G (p.Thr17=)
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg) rs2150912609
NM_023110.3(FGFR1):c.597T>C (p.Pro199=)
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
NM_023110.3(FGFR1):c.621+14C>A
NM_023110.3(FGFR1):c.621+17G>A
NM_023110.3(FGFR1):c.621+18C>A
NM_023110.3(FGFR1):c.621+5G>A
NM_023110.3(FGFR1):c.622-2A>G rs2150866757
NM_023110.3(FGFR1):c.622-9del
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
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.687C>T (p.Thr229=)
NM_023110.3(FGFR1):c.711C>T (p.Gly237=)
NM_023110.3(FGFR1):c.714C>T (p.Ser238=) rs1586315279
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
NM_023110.3(FGFR1):c.745+13del
NM_023110.3(FGFR1):c.745+1G>T
NM_023110.3(FGFR1):c.746-13C>T
NM_023110.3(FGFR1):c.746-14C>G rs1171714073
NM_023110.3(FGFR1):c.746-14C>T
NM_023110.3(FGFR1):c.746-5C>G rs1820095016
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn) rs1833133571
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.817G>A (p.Val273Met) rs1131691929
NM_023110.3(FGFR1):c.819G>C (p.Val273=) rs779056585
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
NM_023110.3(FGFR1):c.849G>A (p.Pro283=)
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.870A>G (p.Leu290=) rs751538019
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
NM_023110.3(FGFR1):c.91+16G>C
NM_023110.3(FGFR1):c.91+19G>T
NM_023110.3(FGFR1):c.91+20C>T
NM_023110.3(FGFR1):c.92-13G>T
NM_023110.3(FGFR1):c.92-19G>A rs753723806
NM_023110.3(FGFR1):c.92-19G>C
NM_023110.3(FGFR1):c.92-6C>G
NM_023110.3(FGFR1):c.936+13C>T
NM_023110.3(FGFR1):c.936+7A>G
NM_023110.3(FGFR1):c.937-11G>T
NM_023110.3(FGFR1):c.937-17T>C
NM_023110.3(FGFR1):c.957C>G (p.Thr319=)
NM_023110.3(FGFR1):c.957C>T (p.Thr319=)
NM_023110.3(FGFR1):c.979_983del (p.His327fs) rs2150757205
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)
NM_032043.2(BRIP1):c.1474-7C>A rs886041146
NM_032043.2(BRIP1):c.1780_1781inv (p.Leu594Lys)
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) rs1555580957
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle) rs1555572724
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs) rs1555572516
NM_032043.2(BRIP1):c.630_637delCCCTGGCC rs1603347058
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.3(BRIP1):c.-31+498_187del
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
NM_032043.3(BRIP1):c.1008T>C (p.Asp336=) rs876660706
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.1011A>C (p.Ile337=) rs2145338037
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.1017A>G (p.Glu339=)
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
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.1026C>T (p.Ser342=) rs1603343281
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro) rs1414803437
NM_032043.3(BRIP1):c.102A>G (p.Arg34=)
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg) rs1555607734
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu) rs751841684
NM_032043.3(BRIP1):c.1032G>A (p.Gly344=) rs1468683560
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.1035G>A (p.Lys345=) rs2145336644
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
NM_032043.3(BRIP1):c.1039C>T (p.Leu347=) rs2145336515
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.3(BRIP1):c.1041A>G (p.Leu347=) rs1555607724
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.1047C>A (p.Ala349=) rs763189201
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.1050T>C (p.Cys350=) rs1555607717
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs) rs1603343235
NM_032043.3(BRIP1):c.1056T>C (p.Tyr352=)
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser) rs2077989056
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter) rs2145335621
NM_032043.3(BRIP1):c.105A>G (p.Gly35=) rs2145852819
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala) rs2145335496
NM_032043.3(BRIP1):c.1065C>T (p.Ala355=) rs1222801209
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.1069G>T (p.Glu357Ter) rs769081927
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile) rs775191379
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr) rs2145334735
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter) rs2145334576
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser) rs1060501767
NM_032043.3(BRIP1):c.1080A>G (p.Gln360=)
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.1086T>C (p.Ala362=)
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe) rs774586397
NM_032043.3(BRIP1):c.108A>G (p.Leu36=) 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.1092C>T (p.Ile364=) rs1555607674
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.1104C>T (p.Pro368=) rs1555607667
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
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.1107C>G (p.Tyr369Ter) rs1489355776
NM_032043.3(BRIP1):c.1107C>T (p.Tyr369=) rs1489355776
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser) rs876659105
NM_032043.3(BRIP1):c.1110C>T (p.Asn370=)
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys) rs1060501768
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
NM_032043.3(BRIP1):c.1113T>C (p.Tyr371=) rs2145332634
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile) rs786202637
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs) rs587783377
NM_032043.3(BRIP1):c.1116T>A (p.Leu372=)
NM_032043.3(BRIP1):c.1116T>C (p.Leu372=) rs2077986700
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.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.1128A>G (p.Gln376=)
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.112dup (p.Ser38fs) rs2078951497
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1131A>T (p.Ile377=) 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.1138del (p.Ser380fs) rs2077985927
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+10T>C rs1060504332
NM_032043.3(BRIP1):c.1140+10T>G rs1060504332
NM_032043.3(BRIP1):c.1140+11G>T
NM_032043.3(BRIP1):c.1140+13G>A
NM_032043.3(BRIP1):c.1140+13G>C
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
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.1140+7AT[3]
NM_032043.3(BRIP1):c.1140+9A>G rs2145330850
NM_032043.3(BRIP1):c.1141-12T>C
NM_032043.3(BRIP1):c.1141-14C>A rs2077954619
NM_032043.3(BRIP1):c.1141-14C>T
NM_032043.3(BRIP1):c.1141-15T>C rs2145311075
NM_032043.3(BRIP1):c.1141-2A>C
NM_032043.3(BRIP1):c.1141-2A>T rs769583916
NM_032043.3(BRIP1):c.1141-3T>C rs773264592
NM_032043.3(BRIP1):c.1141-4A>T rs1226658018
NM_032043.3(BRIP1):c.1141-5T>A rs1060501760
NM_032043.3(BRIP1):c.1141-6T>A
NM_032043.3(BRIP1):c.1141-6T>C rs876661277
NM_032043.3(BRIP1):c.1141-7C>G rs1603342384
NM_032043.3(BRIP1):c.1141-7_1141-3del rs1060501744
NM_032043.3(BRIP1):c.1141-8T>C
NM_032043.3(BRIP1):c.1141-9A>G rs1555607258
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.114C>T (p.Ser38=) 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.1153C>T (p.Leu385=)
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer) rs1603342339
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu) rs730881635
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.3(BRIP1):c.1158A>G (p.Lys386=) rs1567829719
NM_032043.3(BRIP1):c.1158del (p.Glu387fs) rs2145309797
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys) rs1555607230
NM_032043.3(BRIP1):c.1161A>G (p.Glu387=) rs2145309623
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del) rs2145309517
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.3(BRIP1):c.1164G>A (p.Gln388=) rs1603342334
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.1167T>C (p.Val389=)
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
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.1170C>T (p.Val390=) rs754755989
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.1182A>G (p.Glu394=) rs1555607195
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
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.1188T>C (p.His396=) rs1555607189
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His) rs587782039
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs) rs2145307730
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.1196_1197del (p.Glu399fs) rs2077951770
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.1200C>T (p.Asp400=) rs1555607173
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg) rs756636362
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs) rs730881647
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val) rs876659282
NM_032043.3(BRIP1):c.1206T>C (p.Ala402=) rs1203573533
NM_032043.3(BRIP1):c.1207C>A (p.Arg403=) rs369631413
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly) rs369631413
NM_032043.3(BRIP1):c.1209G>A (p.Arg403=) rs2077951084
NM_032043.3(BRIP1):c.1212A>G (p.Glu404=) rs2145306711
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.1222dup (p.Tyr408fs) rs1603342258
NM_032043.3(BRIP1):c.1224C>T (p.Tyr408=)
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.1227T>C (p.Ser409=) rs1555607150
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile) rs2145305888
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
NM_032043.3(BRIP1):c.1230A>C (p.Val410=) rs2145305804
NM_032043.3(BRIP1):c.1233A>G (p.Thr411=)
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.1236A>G (p.Glu412=)
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
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.1239T>C (p.Val413=)
NM_032043.3(BRIP1):c.123T>C (p.His41=)
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs) rs2077949826
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.1256_1278dup (p.Asn427delinsGlyMetAsnTer) rs2077948208
NM_032043.3(BRIP1):c.1257G>T (p.Arg419=)
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.1263A>G (p.Glu421=) rs864622423
NM_032043.3(BRIP1):c.1264C>T (p.Leu422=) rs768633507
NM_032043.3(BRIP1):c.1266A>C (p.Leu422=) rs1484320639
NM_032043.3(BRIP1):c.1266A>T (p.Leu422=) rs1484320639
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
NM_032043.3(BRIP1):c.1269T>C (p.Asp423=) rs954885174
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.1270_1271del (p.Ser424fs) rs2145303552
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn) rs1354610577
NM_032043.3(BRIP1):c.1272T>C (p.Ser424=)
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.127T>C (p.Leu43=) rs1603367726
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.1287T>C (p.Asn429=) rs863224431
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
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.1289_1290dup (p.Arg431Ter) rs2145302423
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1291A>T (p.Arg431Trp)
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys) rs1328630889
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter) rs1555607070
NM_032043.3(BRIP1):c.1296G>A (p.Lys432=) rs757400610
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs) rs2077947183
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.1302T>C (p.Asp434=)
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.3(BRIP1):c.1305T>C (p.His435=) rs1352266926
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln) rs1352266926
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
NM_032043.3(BRIP1):c.1308A>G (p.Glu436=) rs2145301245
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala) rs878855137
NM_032043.3(BRIP1):c.130T>C (p.Leu44=) rs758270108
NM_032043.3(BRIP1):c.1311C>T (p.Pro437=) rs1060504327
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro) rs1555607056
NM_032043.3(BRIP1):c.1315C>A (p.Arg439=) rs587780226
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser) rs2145300568
NM_032043.3(BRIP1):c.1320T>C (p.Ala440=)
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly) rs1458068665
NM_032043.3(BRIP1):c.1323G>A (p.Val441=)
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.1326C>A (p.Cys442Ter) rs2145300052
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.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1340+11T>C
NM_032043.3(BRIP1):c.1340+13G>A rs762531109
NM_032043.3(BRIP1):c.1340+13G>T
NM_032043.3(BRIP1):c.1340+14T>C rs1057522789
NM_032043.3(BRIP1):c.1340+17A>T
NM_032043.3(BRIP1):c.1340+18T>A
NM_032043.3(BRIP1):c.1340+19T>C rs2077944993
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+20A>G rs2145298307
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1340+3A>C rs1060501770
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1340+6A>T
NM_032043.3(BRIP1):c.1340+7_1340+9del rs1413352933
NM_032043.3(BRIP1):c.1340+8G>T rs2145298781
NM_032043.3(BRIP1):c.1340+9A>G rs376487588
NM_032043.3(BRIP1):c.1340+9A>T rs376487588
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr) rs1603342134
NM_032043.3(BRIP1):c.1341-16T>C
NM_032043.3(BRIP1):c.1341-17G>T rs2145245872
NM_032043.3(BRIP1):c.1341-17_1341-13del rs2077857551
NM_032043.3(BRIP1):c.1341-18del
NM_032043.3(BRIP1):c.1341-19T>C
NM_032043.3(BRIP1):c.1341-20del rs2145245949
NM_032043.3(BRIP1):c.1341-2A>C
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.1341-7A>G rs2145245603
NM_032043.3(BRIP1):c.1341-8_1341-4del rs1555605965
NM_032043.3(BRIP1):c.1341-8del rs1567825391
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu) rs775171520
NM_032043.3(BRIP1):c.1347A>G (p.Leu449=)
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.1356_1371del (p.Asn452fs) rs2145243883
NM_032043.3(BRIP1):c.1359T>C (p.Ala453=) rs2145244570
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.1362A>G (p.Glu454=) 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.1368T>C (p.Leu456=) rs878855138
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.1371A>G (p.Val457=) rs935612010
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>G (p.Arg459=) rs780310294
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser) rs780310294
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs) rs2145243385
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn) rs1567877002
NM_032043.3(BRIP1):c.1380T>C (p.Asp460=) rs758735370
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
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.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
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.1410A>C (p.Gly470=)
NM_032043.3(BRIP1):c.1410A>G (p.Gly470=)
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser) rs1555605906
NM_032043.3(BRIP1):c.1413T>C (p.Asn471=) rs1555605904
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln) rs1555605902
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.3(BRIP1):c.1417del (p.Met473fs) rs2145241576
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
NM_032043.3(BRIP1):c.141C>T (p.Pro47=)
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
NM_032043.3(BRIP1):c.1422C>T (p.Leu474=) rs1555605898
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
NM_032043.3(BRIP1):c.1425A>G (p.Leu475=) rs2145241141
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1428T>C (p.Thr476=) rs1603340327
NM_032043.3(BRIP1):c.1428T>G (p.Thr476=) rs1603340327
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.1442_1443dup (p.Ile482fs) rs2077853451
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met) rs759360709
NM_032043.3(BRIP1):c.1446C>T (p.Ile482=) rs759360709
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser) rs1555605874
NM_032043.3(BRIP1):c.1449C>T (p.Thr483=) rs2077853064
NM_032043.3(BRIP1):c.144A>G (p.Thr48=) rs1423058475
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
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.1457del (p.Thr486fs) rs2145239498
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs) rs2145239459
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser) rs1450320184
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs) rs1603340281
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu) rs1237035767
NM_032043.3(BRIP1):c.1464C>T (p.Pro488=) rs1603340284
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.1469del (p.Leu490fs)
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe) rs1567824994
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
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+13_1473+14del rs876660968
NM_032043.3(BRIP1):c.1473+14T>C rs1555605845
NM_032043.3(BRIP1):c.1473+14T>G
NM_032043.3(BRIP1):c.1473+14del rs876660968
NM_032043.3(BRIP1):c.1473+14dup rs876660968
NM_032043.3(BRIP1):c.1473+15C>G rs2077851707
NM_032043.3(BRIP1):c.1473+16T>C rs1555605844
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1473+1G>C rs748274524
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.1473+3A>G
NM_032043.3(BRIP1):c.1473+3A>T rs2077852092
NM_032043.3(BRIP1):c.1473+4_1473+8del rs730881650
NM_032043.3(BRIP1):c.1473+7T>C
NM_032043.3(BRIP1):c.1473+8A>G
NM_032043.3(BRIP1):c.1473+8A>T
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.1474-12A>G
NM_032043.3(BRIP1):c.1474-12A>T
NM_032043.3(BRIP1):c.1474-14G>A rs2077673537
NM_032043.3(BRIP1):c.1474-14G>T
NM_032043.3(BRIP1):c.1474-15G>A
NM_032043.3(BRIP1):c.1474-16T>C
NM_032043.3(BRIP1):c.1474-17A>G
NM_032043.3(BRIP1):c.1474-17A>T rs762049694
NM_032043.3(BRIP1):c.1474-19A>C
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-20A>C
NM_032043.3(BRIP1):c.1474-20A>T rs1462969643
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1474-4A>G rs2145142626
NM_032043.3(BRIP1):c.1474-5T>G
NM_032043.3(BRIP1):c.1474-7C>T rs886041146
NM_032043.3(BRIP1):c.1474-9T>G rs863224432
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg) rs2145142389
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
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.1479T>C (p.His493=) rs2077672800
NM_032043.3(BRIP1):c.147A>G (p.Gly49=) rs2145851438
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala) rs1555603617
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs) rs1555603622
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr) rs536081549
NM_032043.3(BRIP1):c.1485T>G (p.Ser495=) rs370658123
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val) rs1555603612
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
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.1495C>T (p.Gln499Ter) rs1060501739
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.14G>A (p.Trp5Ter) rs1555618738
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
NM_032043.3(BRIP1):c.1503G>A (p.Glu501=)
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
NM_032043.3(BRIP1):c.1506A>G (p.Glu502=) rs1057523215
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.1509A>G (p.Lys503=) rs1443429619
NM_032043.3(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr) rs755306832
NM_032043.3(BRIP1):c.1512C>A (p.Ile504=) rs876660478
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.1515A>G (p.Ser505=) rs2145139643
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.1518A>G (p.Pro506=) rs1603337002
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.1524T>C (p.Tyr508=) rs1060504326
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp) rs1555603567
NM_032043.3(BRIP1):c.1527T>C (p.Gly509=)
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu) rs1603336991
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
NM_032043.3(BRIP1):c.1533G>A (p.Glu511=) rs1418736430
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter) rs1603336980
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
NM_032043.3(BRIP1):c.1536G>A (p.Glu512=) rs876658531
NM_032043.3(BRIP1):c.1537del (p.Ala513fs) rs1567816997
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
NM_032043.3(BRIP1):c.153A>G (p.Gly51=) rs1603367703
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
NM_032043.3(BRIP1):c.1543del (p.Glu515fs) rs1064793812
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.1566A>G (p.Ser522=) rs985465808
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.1569T>C (p.Thr523=) rs2145137253
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn) rs1603367700
NM_032043.3(BRIP1):c.156A>G (p.Lys52=) 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.1581T>G (p.Leu527=) rs2145136829
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu) rs748962730
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
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>A (p.Trp5Ter) rs2078973424
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys) rs2078973424
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
NM_032043.3(BRIP1):c.1602T>C (p.Leu534=) rs974139602
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs) rs2145135739
NM_032043.3(BRIP1):c.1605C>T (p.Asp535=) rs56024614
NM_032043.3(BRIP1):c.1608T>C (p.Tyr536=) rs1603336910
NM_032043.3(BRIP1):c.1608del (p.Leu537fs) rs2145135618
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.1614T>C (p.Phe538=) rs2145135352
NM_032043.3(BRIP1):c.1614del (p.Phe538fs) rs2077667669
NM_032043.3(BRIP1):c.1615A>C (p.Arg539=) rs1555603468
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1617G>A (p.Arg539=) rs2145135194
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter) rs1603336897
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter) rs2078949879
NM_032043.3(BRIP1):c.1620A>G (p.Gln540=) rs2145135063
NM_032043.3(BRIP1):c.1622del (p.Asn541fs) rs1603336895
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+12T>C
NM_032043.3(BRIP1):c.1628+14A>G
NM_032043.3(BRIP1):c.1628+15C>T rs751454994
NM_032043.3(BRIP1):c.1628+17A>G
NM_032043.3(BRIP1):c.1628+19T>C
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
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.1628+7G>A rs2077666975
NM_032043.3(BRIP1):c.1628+9A>G
NM_032043.3(BRIP1):c.1628+9A>T rs2145134529
NM_032043.3(BRIP1):c.1629-13T>C rs2145098509
NM_032043.3(BRIP1):c.1629-14T>G rs1057523831
NM_032043.3(BRIP1):c.1629-17_1652del
NM_032043.3(BRIP1):c.1629-19G>T
NM_032043.3(BRIP1):c.1629-1G>A rs1060501757
NM_032043.3(BRIP1):c.1629-1G>C rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1629-3T>G
NM_032043.3(BRIP1):c.1629-4C>A
NM_032043.3(BRIP1):c.1629-4C>T rs747704211
NM_032043.3(BRIP1):c.1629-6A>G rs755767691
NM_032043.3(BRIP1):c.162A>G (p.Leu54=)
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.1645_1649dup (p.Ala551fs) rs1555602638
NM_032043.3(BRIP1):c.1647A>G (p.Lys549=)
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.1653G>A (p.Ala551=) rs750213758
NM_032043.3(BRIP1):c.1653G>T (p.Ala551=) rs750213758
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.1659A>G (p.Gln553=) rs876660693
NM_032043.3(BRIP1):c.165C>T (p.Ala55=) rs1603367680
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter) rs777217004
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
NM_032043.3(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.3(BRIP1):c.1662G>A (p.Gln554=)
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.1666_1669dup (p.Ser557fs) rs2077611091
NM_032043.3(BRIP1):c.1668C>T (p.Tyr556=) rs1416513467
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro) rs2145096206
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter) rs2145095898
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg) rs876658266
NM_032043.3(BRIP1):c.1677A>C (p.Thr559=)
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile) rs1555602592
NM_032043.3(BRIP1):c.1680T>C (p.Asn560=) rs2145095721
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro) rs1603334713
NM_032043.3(BRIP1):c.1683G>A (p.Gln561=)
NM_032043.3(BRIP1):c.1683G>C (p.Gln561His) rs1209325148
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs) rs2077610620
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr) rs2077610488
NM_032043.3(BRIP1):c.1686T>A (p.Ile562=)
NM_032043.3(BRIP1):c.1686T>C (p.Ile562=) rs1374464175
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.1689T>C (p.Asp563=) rs1603334654
NM_032043.3(BRIP1):c.168A>G (p.Leu56=) rs2145850652
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs) rs1603367673
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr) rs755635967
NM_032043.3(BRIP1):c.1692T>C (p.Ile564=) rs786202979
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter) rs1603334619
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.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer) rs878855140
NM_032043.3(BRIP1):c.1697del (p.Asp566fs) rs2077609777
NM_032043.3(BRIP1):c.1698C>G (p.Asp566Glu)
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter) rs2145094630
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr) rs2077609583
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
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.1707G>A (p.Gly569=) rs878855141
NM_032043.3(BRIP1):c.1707del (p.Leu570fs) rs2077609211
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del) rs754566378
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter) rs2077609103
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>A (p.Leu571=)
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.1727del (p.Asn576fs)
NM_032043.3(BRIP1):c.1728T>C (p.Asn576=) rs1555602531
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.1734A>G (p.Lys578=) rs786202592
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser) rs28997571
NM_032043.3(BRIP1):c.1737T>G (p.Arg579=)
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter) rs1356014648
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.1740A>G (p.Ser580=) rs2145092732
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.1758T>C (p.Val586=) rs863224433
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.1761T>C (p.His587=) rs1603334313
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met) rs876660355
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
NM_032043.3(BRIP1):c.1767A>G (p.Leu589=) rs1057523711
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.1770C>T (p.Asn590=)
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1773T>C (p.Phe591=) rs1057523507
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>A (p.Trp592Ter) rs753023295
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys) rs753023295
NM_032043.3(BRIP1):c.1779C>T (p.Cys593=)
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.1785T>C (p.Asn595=) rs1603334224
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu) rs864622155
NM_032043.3(BRIP1):c.1788A>G (p.Pro596=) rs1555602434
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.1791T>C (p.Ala597=)
NM_032043.3(BRIP1):c.1791T>G (p.Ala597=) rs1060504323
NM_032043.3(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.3(BRIP1):c.1794+10T>A rs763543426
NM_032043.3(BRIP1):c.1794+10T>C rs763543426
NM_032043.3(BRIP1):c.1794+11C>T
NM_032043.3(BRIP1):c.1794+12A>G rs773521085
NM_032043.3(BRIP1):c.1794+13T>C
NM_032043.3(BRIP1):c.1794+13T>G rs2145089397
NM_032043.3(BRIP1):c.1794+14G>C
NM_032043.3(BRIP1):c.1794+15T>C
NM_032043.3(BRIP1):c.1794+19T>G
NM_032043.3(BRIP1):c.1794+2T>G
NM_032043.3(BRIP1):c.1794+2dup rs2077605901
NM_032043.3(BRIP1):c.1794+6C>T rs1429375125
NM_032043.3(BRIP1):c.1794+7T>G rs2145089607
NM_032043.3(BRIP1):c.1794+8C>T
NM_032043.3(BRIP1):c.1795-12G>A rs762289143
NM_032043.3(BRIP1):c.1795-12_1795-10del rs1475317357
NM_032043.3(BRIP1):c.1795-15G>A
NM_032043.3(BRIP1):c.1795-16T>G
NM_032043.3(BRIP1):c.1795-17A>G rs1567812766
NM_032043.3(BRIP1):c.1795-17A>T
NM_032043.3(BRIP1):c.1795-18_1795-6del rs1603333451
NM_032043.3(BRIP1):c.1795-19T>C
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1795-1G>C
NM_032043.3(BRIP1):c.1795-20C>A rs750994596
NM_032043.3(BRIP1):c.1795-2del
NM_032043.3(BRIP1):c.1795-7C>A
NM_032043.3(BRIP1):c.1795-8T>A rs1012425653
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.1797C>T (p.Ala599=) rs771672834
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe) rs1603368484
NM_032043.3(BRIP1):c.1801del (p.Ser601fs) rs2145081748
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly) rs1555602221
NM_032043.3(BRIP1):c.1806T>C (p.Asp602=) rs878855142
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.1809T>C (p.Ile603=) rs370393808
NM_032043.3(BRIP1):c.180T>A (p.Ala60=) rs2078949295
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs) rs2145850255
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>A (p.Gln608=)
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.1827C>G (p.Thr609=) rs2145080349
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.1831del (p.Val611fs) rs1567812616
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser) rs2077597358
NM_032043.3(BRIP1):c.1836G>A (p.Leu612=) rs1464898721
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.1839A>G (p.Thr613=) rs1603333264
NM_032043.3(BRIP1):c.183A>G (p.Leu61=) rs1555618384
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.1850del (p.Leu617fs)
NM_032043.3(BRIP1):c.1851A>G (p.Leu617=)
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.1853_1854insG (p.Pro619fs) rs587781985
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.1857A>C (p.Pro619=) rs1603333212
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.186A>G (p.Ala62=) rs764252214
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
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.1878A>C (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1878A>G (p.Glu626=)
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp) rs1567812484
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.1888dup (p.Thr630fs) rs763818712
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys) rs780407946
NM_032043.3(BRIP1):c.1889del (p.Thr630fs) rs1064793626
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter) rs1603367649
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.1896T>C (p.Thr632=) rs2077595308
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.189G>A (p.Trp63Ter) rs1603367647
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.1903C>T (p.Leu635=) rs754280136
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.1908G>A (p.Glu636=) rs1555602134
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro) rs541203428
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter) rs2145849937
NM_032043.3(BRIP1):c.1911T>C (p.Ala637=) rs1603333046
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp) rs2077594670
NM_032043.3(BRIP1):c.1914T>C (p.Asn638=) rs764456240
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.1917T>C (p.His639=) rs763534423
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val) rs2145075101
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs) rs1555602127
NM_032043.3(BRIP1):c.1920C>A (p.Ile640=) rs2145074950
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe) rs1603333007
NM_032043.3(BRIP1):c.1926A>G (p.Lys642=) rs2145074724
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His) rs2145074666
NM_032043.3(BRIP1):c.192A>G (p.Gln64=) rs2145849875
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+11G>T rs79121306
NM_032043.3(BRIP1):c.1935+11_1935+12del
NM_032043.3(BRIP1):c.1935+11del
NM_032043.3(BRIP1):c.1935+13T>G rs1555602100
NM_032043.3(BRIP1):c.1935+14T>C
NM_032043.3(BRIP1):c.1935+16T>C rs2145073369
NM_032043.3(BRIP1):c.1935+17T>C
NM_032043.3(BRIP1):c.1935+17T>G rs1268001607
NM_032043.3(BRIP1):c.1935+1G>A
NM_032043.3(BRIP1):c.1935+1del rs2077594062
NM_032043.3(BRIP1):c.1935+4_1935+7del rs766199221
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.1935+6T>C rs1555602118
NM_032043.3(BRIP1):c.1935+7T>A
NM_032043.3(BRIP1):c.1935+8G>C
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=) rs1254051324
NM_032043.3(BRIP1):c.1936-12T>C
NM_032043.3(BRIP1):c.1936-12T>G
NM_032043.3(BRIP1):c.1936-12_1936-10del rs2145034941
NM_032043.3(BRIP1):c.1936-13A>T
NM_032043.3(BRIP1):c.1936-18G>A rs2145035153
NM_032043.3(BRIP1):c.1936-19T>C
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-1G>C rs1555601204
NM_032043.3(BRIP1):c.1936-28_1936-20dup rs2145035178
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.1936-4C>G rs587780552
NM_032043.3(BRIP1):c.1936-5T>A rs769767296
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT rs587781481
NM_032043.3(BRIP1):c.1936-7A>G rs1427111542
NM_032043.3(BRIP1):c.1936del rs1567809140
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
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.1948_1957del (p.Thr650fs) rs2077537479
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.1950C>T (p.Thr650=) rs1603328999
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val) rs778867622
NM_032043.3(BRIP1):c.1953T>C (p.Ile651=) rs754400631
NM_032043.3(BRIP1):c.1956G>A (p.Gly652=) rs778250103
NM_032043.3(BRIP1):c.1956G>T (p.Gly652=) rs778250103
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu) rs756511744
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs) rs2145033356
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.1962C>G (p.Gly654=) rs786201877
NM_032043.3(BRIP1):c.1962C>T (p.Gly654=) rs786201877
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.1966A>T (p.Lys656Ter)
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg) rs1322017079
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs) rs2077537050
NM_032043.3(BRIP1):c.1968G>A (p.Lys656=)
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.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.1971T>G (p.Gly657=) rs1555601157
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=) rs786203170
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.1974G>T (p.Arg658=) rs876658617
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs) rs2145032405
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.1983T>C (p.Cys661=) rs1603328829
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala) rs1567808933
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
NM_032043.3(BRIP1):c.1989C>G (p.Thr663=) rs376628979
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter) rs1603328780
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.1998T>C (p.Asn666=) rs876659106
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.2001T>G (p.Thr667=)
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter) rs2145031089
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser) rs1555601107
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.3(BRIP1):c.2010T>C (p.Phe670=) rs762535496
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly) rs587778135
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs) rs2145030551
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg) rs786203619
NM_032043.3(BRIP1):c.2019A>G (p.Gln673=) rs1008150951
NM_032043.3(BRIP1):c.201T>C (p.Leu67=) rs763819127
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.2023dup (p.Glu675fs) rs2145029870
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.2028G>A (p.Val676=) rs786202395
NM_032043.3(BRIP1):c.2028G>C (p.Val676=) rs786202395
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.2030del (p.Gly677fs) rs1555601064
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.2038_2039del (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2039T>C (p.Leu680Ser) rs2077534379
NM_032043.3(BRIP1):c.2040G>A (p.Leu680=) rs2145028811
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro) rs2077534218
NM_032043.3(BRIP1):c.2046T>C (p.Ser682=) rs2145028480
NM_032043.3(BRIP1):c.2049G>A (p.Val683=) rs1228288888
NM_032043.3(BRIP1):c.204T>C (p.Ser68=) rs2078948550
NM_032043.3(BRIP1):c.205+10del rs2078948200
NM_032043.3(BRIP1):c.205+13T>G
NM_032043.3(BRIP1):c.205+17T>G
NM_032043.3(BRIP1):c.205+18A>G rs1555618353
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.205+20C>A
NM_032043.3(BRIP1):c.205+2T>G rs1060501763
NM_032043.3(BRIP1):c.205+4A>G rs1060501753
NM_032043.3(BRIP1):c.205+4A>T
NM_032043.3(BRIP1):c.205+5G>A rs2078948368
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.205+6T>A rs1555618360
NM_032043.3(BRIP1):c.205+6T>C rs1555618360
NM_032043.3(BRIP1):c.205+6_205+7insTATCTTGA rs2078948236
NM_032043.3(BRIP1):c.205+8G>A rs2145849179
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe) rs2145028133
NM_032043.3(BRIP1):c.2053del (p.Gln685fs) rs2145028011
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.2058T>A (p.Thr686=)
NM_032043.3(BRIP1):c.2058T>C (p.Thr686=) rs1603328526
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met) rs876659296
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer) rs2145027657
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp) rs372581879
NM_032043.3(BRIP1):c.206-10T>A
NM_032043.3(BRIP1):c.206-14T>A rs914741353
NM_032043.3(BRIP1):c.206-14T>C rs914741353
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
NM_032043.3(BRIP1):c.206-16G>A
NM_032043.3(BRIP1):c.206-17T>C rs1567875100
NM_032043.3(BRIP1):c.206-18A>T
NM_032043.3(BRIP1):c.206-1G>T rs1555617934
NM_032043.3(BRIP1):c.206-6T>A rs1555617938
NM_032043.3(BRIP1):c.206-8A>C
NM_032043.3(BRIP1):c.206-8A>G rs2145831898
NM_032043.3(BRIP1):c.206-9C>A rs1193647766
NM_032043.3(BRIP1):c.206-9C>T
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala) rs1555601030
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
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.2079T>C (p.Cys693=) rs2145026472
NM_032043.3(BRIP1):c.207G>A (p.Gly69=) rs2078911284
NM_032043.3(BRIP1):c.2085G>A (p.Leu695=) rs1555601008
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe) rs1555601008
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs) rs1060501772
NM_032043.3(BRIP1):c.2088A>G (p.Pro696=)
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro) rs1603328426
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
NM_032043.3(BRIP1):c.2091T>C (p.Ser697=) rs2077532892
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter) rs1603328406
NM_032043.3(BRIP1):c.2094C>T (p.Tyr698=) rs1603328406
NM_032043.3(BRIP1):c.2097+10T>C rs2145024802
NM_032043.3(BRIP1):c.2097+13T>A
NM_032043.3(BRIP1):c.2097+14T>C rs2145024654
NM_032043.3(BRIP1):c.2097+14T>G
NM_032043.3(BRIP1):c.2097+14del
NM_032043.3(BRIP1):c.2097+15A>T
NM_032043.3(BRIP1):c.2097+15_2097+17del
NM_032043.3(BRIP1):c.2097+17T>C
NM_032043.3(BRIP1):c.2097+17T>G rs779183944
NM_032043.3(BRIP1):c.2097+18G>T rs2077532129
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2097+1G>T rs786202941
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2097+5G>T
NM_032043.3(BRIP1):c.2097+6G>A rs1603328382
NM_032043.3(BRIP1):c.2097+7G>C rs4988352
NM_032043.3(BRIP1):c.2097+7del
NM_032043.3(BRIP1):c.2097+8A>G rs730881642
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=) rs1060501754
NM_032043.3(BRIP1):c.2098-10C>A rs864622767
NM_032043.3(BRIP1):c.2098-10C>T rs864622767
NM_032043.3(BRIP1):c.2098-11C>A
NM_032043.3(BRIP1):c.2098-11C>T
NM_032043.3(BRIP1):c.2098-13T>G rs2077035315
NM_032043.3(BRIP1):c.2098-14T>C
NM_032043.3(BRIP1):c.2098-16T>C rs2144702212
NM_032043.3(BRIP1):c.2098-16del rs1064793669
NM_032043.3(BRIP1):c.2098-17T>A rs1555591574
NM_032043.3(BRIP1):c.2098-17T>C rs1555591574
NM_032043.3(BRIP1):c.2098-22dup rs1064793669
NM_032043.3(BRIP1):c.2098-3del rs1603304671
NM_032043.3(BRIP1):c.2098-6C>T rs2144701935
NM_032043.3(BRIP1):c.2098-8C>T rs917048033
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>A (p.Leu701Ter)
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser) rs876658270
NM_032043.3(BRIP1):c.2103A>G (p.Leu701=)
NM_032043.3(BRIP1):c.2103del (p.Glu702fs) rs2144701568
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.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2109A>G (p.Lys703=) rs2077034490
NM_032043.3(BRIP1):c.2109del (p.Lys703fs) rs2144701307
NM_032043.3(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.3(BRIP1):c.2110T>C (p.Leu704=)
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
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.2120del (p.Arg707fs)
NM_032043.3(BRIP1):c.2121T>A (p.Arg707=)
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=) rs1481107855
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
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.2127C>G (p.Leu709=) rs1060504325
NM_032043.3(BRIP1):c.2127C>T (p.Leu709=) rs1060504325
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala) rs1555591505
NM_032043.3(BRIP1):c.2130T>C (p.Ser710=) rs1555591497
NM_032043.3(BRIP1):c.2130T>G (p.Ser710=)
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.2133del (p.Gly712fs) rs1567781543
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.2138T>G (p.Leu713Ter) rs878855145
NM_032043.3(BRIP1):c.213A>G (p.Pro71=) rs1471650548
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.2149C>T (p.Leu717=) rs1555591473
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>A (p.Glu718=) rs1057523978
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
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.2160G>A (p.Val720=) rs1603304594
NM_032043.3(BRIP1):c.2163G>A (p.Lys721=)
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile) rs1603304593
NM_032043.3(BRIP1):c.2166A>G (p.Thr722=) rs2144698611
NM_032043.3(BRIP1):c.2169C>T (p.Val723=) rs749460936
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
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.2175A>G (p.Val725=)
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.2182C>T (p.Gln728Ter) rs1296238058
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu) rs2144697784
NM_032043.3(BRIP1):c.2184G>A (p.Gln728=)
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.2187del (p.Gly730fs)
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys) rs1603304544
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2197del (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile) rs2077031435
NM_032043.3(BRIP1):c.219T>C (p.Asp73=) rs1603366434
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.2205dup (p.Asp736Ter) rs1555591385
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.2211A>G (p.Glu737=) rs1603304536
NM_032043.3(BRIP1):c.2212T>C (p.Leu738=) rs1567781239
NM_032043.3(BRIP1):c.2214A>G (p.Leu738=)
NM_032043.3(BRIP1):c.2215C>T (p.Leu739=) rs1555591374
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.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.3(BRIP1):c.2218del (p.Gln740fs) rs1555591365
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.2221dup (p.Val741fs) rs1567781169
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala) rs1555591357
NM_032043.3(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser) rs1555591351
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter) rs2144696024
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.2229T>G (p.Tyr743Ter) rs2077030288
NM_032043.3(BRIP1):c.222G>A (p.Glu74=) rs1603366432
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.2237_2240del (p.Ile746fs) rs587782726
NM_032043.3(BRIP1):c.2238C>A (p.Ile746=) rs876660416
NM_032043.3(BRIP1):c.2238C>T (p.Ile746=) rs876660416
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys) rs1317680188
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2247A>G (p.Lys749=) rs587782556
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
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.2250A>C (p.Gly750=) rs1195197229
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln) rs760438320
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs) rs1555591308
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.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
NM_032043.3(BRIP1):c.2257+11A>G rs1213506782
NM_032043.3(BRIP1):c.2257+11del rs2144694434
NM_032043.3(BRIP1):c.2257+12_2257+17del
NM_032043.3(BRIP1):c.2257+13T>C
NM_032043.3(BRIP1):c.2257+15T>C rs775380026
NM_032043.3(BRIP1):c.2257+19A>G rs77851913
NM_032043.3(BRIP1):c.2257+19A>T rs77851913
NM_032043.3(BRIP1):c.2257+1G>A rs2077029293
NM_032043.3(BRIP1):c.2257+20T>C
NM_032043.3(BRIP1):c.2257+3A>G rs2144694655
NM_032043.3(BRIP1):c.2257+7G>A rs2144694497
NM_032043.3(BRIP1):c.2257+8G>T rs2077029126
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His) rs1603304458
NM_032043.3(BRIP1):c.2258-12C>G rs2144680873
NM_032043.3(BRIP1):c.2258-13T>C rs1567779896
NM_032043.3(BRIP1):c.2258-13dup rs2144680932
NM_032043.3(BRIP1):c.2258-19C>T rs1057524575
NM_032043.3(BRIP1):c.2258-19del rs2144681146
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-1G>C
NM_032043.3(BRIP1):c.2258-1G>T rs1064793887
NM_032043.3(BRIP1):c.2258-20G>A rs1555590610
NM_032043.3(BRIP1):c.2258-2dup rs2144680473
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.2258-6T>C rs2077009706
NM_032043.3(BRIP1):c.2258-7G>A rs1060501777
NM_032043.3(BRIP1):c.2258-7_2258-4del rs1064795010
NM_032043.3(BRIP1):c.2258-7_2258-5del
NM_032043.3(BRIP1):c.2258-9_2258-8dup
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu) rs2077009355
NM_032043.3(BRIP1):c.2262A>T (p.Gly754=) rs1060504324
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.2268C>T (p.Leu756=) rs864622332
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.2274A>G (p.Val758=) rs786201526
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly) rs2144679532
NM_032043.3(BRIP1):c.2280T>C (p.Val760=)
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.228A>G (p.Val76=) rs2078910583
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.2298T>C (p.Ser766=) rs1603303851
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs) rs2144678308
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.2307G>A (p.Leu769=) rs1555590464
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.2313C>T (p.Phe771=)
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs) rs758128094
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn) rs146091205
NM_032043.3(BRIP1):c.2319T>C (p.Asp773=) rs1555590447
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.2322C>T (p.Asp774=) 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.2328C>T (p.Ala776=) rs786203725
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.2329dup (p.Arg777fs)
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.2343A>G (p.Thr781=) rs772636536
NM_032043.3(BRIP1):c.2343A>T (p.Thr781=) rs772636536
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.2352T>A (p.Ile784=) rs2077006255
NM_032043.3(BRIP1):c.2352T>C (p.Ile784=)
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.2361A>C (p.Pro787=)
NM_032043.3(BRIP1):c.2364T>C (p.Asn788=) 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.2370_2379+20del rs2144674380
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.2373T>C (p.Asp791=) 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.2376A>G (p.Leu792=) rs554514054
NM_032043.3(BRIP1):c.2379+13A>C
NM_032043.3(BRIP1):c.2379+14A>T rs2144674551
NM_032043.3(BRIP1):c.2379+17T>G rs2144674490
NM_032043.3(BRIP1):c.2379+18T>C
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2379+4G>A
NM_032043.3(BRIP1):c.2379+7C>T rs1057520464
NM_032043.3(BRIP1):c.2379+8A>G rs1567779307
NM_032043.3(BRIP1):c.2379+9T>C rs1555590278
NM_032043.3(BRIP1):c.237A>G (p.Lys79=)
NM_032043.3(BRIP1):c.237del (p.Ala80fs) rs2145830843
NM_032043.3(BRIP1):c.2380-10A>G rs2061858108
NM_032043.3(BRIP1):c.2380-11A>T
NM_032043.3(BRIP1):c.2380-11dup rs2144384661
NM_032043.3(BRIP1):c.2380-14T>C rs2144384810
NM_032043.3(BRIP1):c.2380-18dup
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2380-20A>G rs977667900
NM_032043.3(BRIP1):c.2380-2A>C rs2144384449
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT rs2061856480
NM_032043.3(BRIP1):c.2380-4T>C rs2144384520
NM_032043.3(BRIP1):c.2380-6T>C
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.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
NM_032043.3(BRIP1):c.2386C>T (p.Leu796=) rs1057521362
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
NM_032043.3(BRIP1):c.2388A>G (p.Leu796=) rs1057521977
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
NM_032043.3(BRIP1):c.2394A>T (p.Arg798=) rs540236878
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.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
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.2409C>T (p.His803=) rs762039913
NM_032043.3(BRIP1):c.240T>G (p.Ala80=) rs745422385
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg) rs777277034
NM_032043.3(BRIP1):c.2412T>C (p.His804=) rs1555580913
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter) rs2061855838
NM_032043.3(BRIP1):c.2415A>G (p.Ser805=) rs769413097
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu) rs747622456
NM_032043.3(BRIP1):c.241del (p.Glu81fs) rs1292988272
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.2430T>C (p.Leu810=)
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val) rs2144381821
NM_032043.3(BRIP1):c.2433A>G (p.Leu811=) rs751455420
NM_032043.3(BRIP1):c.2433A>T (p.Leu811=) rs751455420
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.2435C>T (p.Pro812Leu) 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.2439C>T (p.Gly813=)
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
NM_032043.3(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly) rs201869624
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
NM_032043.3(BRIP1):c.2445G>A (p.Gln815=) rs764195906
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs) rs2144381014
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly) rs1338241931
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter) rs786204250
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.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs) rs2144380398
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu) rs876659594
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
NM_032043.3(BRIP1):c.2460A>G (p.Gln820=) rs1555580812
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val) rs876658697
NM_032043.3(BRIP1):c.2463A>G (p.Ala821=) rs2144380143
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys) rs587781572
NM_032043.3(BRIP1):c.2466C>T (p.Tyr822=) rs2144379956
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.2469G>A (p.Arg823=) rs587780239
NM_032043.3(BRIP1):c.246A>G (p.Val82=) rs864622659
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=) rs767666616
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.2479C>T (p.Gln827Ter) 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.2484C>A (p.Ala828=)
NM_032043.3(BRIP1):c.2484C>T (p.Ala828=) rs1277187413
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser) rs876659062
NM_032043.3(BRIP1):c.2490T>C (p.Gly830=)
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly) rs2144378901
NM_032043.3(BRIP1):c.2491del (p.Arg831fs) rs1555580769
NM_032043.3(BRIP1):c.2492+10G>A
NM_032043.3(BRIP1):c.2492+11T>A
NM_032043.3(BRIP1):c.2492+11T>G rs2061852455
NM_032043.3(BRIP1):c.2492+12G>A rs1424282420
NM_032043.3(BRIP1):c.2492+13A>T
NM_032043.3(BRIP1):c.2492+14A>G
NM_032043.3(BRIP1):c.2492+15A>G
NM_032043.3(BRIP1):c.2492+19A>G
NM_032043.3(BRIP1):c.2492+19A>T rs983179829
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2492+1G>T
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492+2T>C
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.2492+7G>A rs2144378579
NM_032043.3(BRIP1):c.2492+9A>C
NM_032043.3(BRIP1):c.2492+9A>G
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys) rs771382903
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-10T>A rs776255327
NM_032043.3(BRIP1):c.2493-10T>C rs776255327
NM_032043.3(BRIP1):c.2493-10dup rs1457869893
NM_032043.3(BRIP1):c.2493-13C>T
NM_032043.3(BRIP1):c.2493-14C>T rs2061479652
NM_032043.3(BRIP1):c.2493-15C>T rs1009398860
NM_032043.3(BRIP1):c.2493-16T>C rs1555574835
NM_032043.3(BRIP1):c.2493-16T>G rs1555574835
NM_032043.3(BRIP1):c.2493-17T>C
NM_032043.3(BRIP1):c.2493-17_2493-16del
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-2A>G rs1603280621
NM_032043.3(BRIP1):c.2493-3T>G rs2061479378
NM_032043.3(BRIP1):c.2493-3_2493-1del
NM_032043.3(BRIP1):c.2493-4C>G rs1057521675
NM_032043.3(BRIP1):c.2493-8T>C rs2144188159
NM_032043.3(BRIP1):c.2493-9T>G
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.2507_2508del (p.Arg836fs) rs2061478781
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.2510del (p.Asn837fs) rs2144187480
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.2516G>A (p.Trp839Ter)
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter) rs2145830278
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.2524_2525del (p.Leu842fs) rs1555574788
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.2526T>C (p.Leu842=) rs1603280539
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr) rs996693020
NM_032043.3(BRIP1):c.2532A>G (p.Leu844=) rs1603280519
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>C (p.Asp846=) rs2144186341
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.254C>G (p.Ser85Ter) rs587781830
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.2556C>T (p.Asn852=) 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.255A>C (p.Ser85=) rs2078909755
NM_032043.3(BRIP1):c.255A>G (p.Ser85=)
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>C (p.Ser854=) rs1555574734
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.2565C>T (p.Arg855=)
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His) rs2061476921
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter) rs370175724
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.2571A>T (p.Ile857=) rs1427254734
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=) rs1555574712
NM_032043.3(BRIP1):c.2575+10C>T rs1060504322
NM_032043.3(BRIP1):c.2575+12G>A rs1555574706
NM_032043.3(BRIP1):c.2575+12G>C rs1555574706
NM_032043.3(BRIP1):c.2575+13C>G
NM_032043.3(BRIP1):c.2575+14T>C rs1567737501
NM_032043.3(BRIP1):c.2575+15G>C
NM_032043.3(BRIP1):c.2575+16G>A
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575+20T>C
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.2575+6A>G rs1555574710
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg) rs2061476512
NM_032043.3(BRIP1):c.2576-12C>A rs2061362510
NM_032043.3(BRIP1):c.2576-12C>T rs2061362510
NM_032043.3(BRIP1):c.2576-13C>T
NM_032043.3(BRIP1):c.2576-14A>T
NM_032043.3(BRIP1):c.2576-16T>G
NM_032043.3(BRIP1):c.2576-17T>C rs1057517647
NM_032043.3(BRIP1):c.2576-18G>A rs1369955810
NM_032043.3(BRIP1):c.2576-18G>T
NM_032043.3(BRIP1):c.2576-19G>A rs1057521888
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2576-1G>T rs587782539
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2576-3T>C rs2144119000
NM_032043.3(BRIP1):c.2576-4T>C rs1603277027
NM_032043.3(BRIP1):c.2576-6C>T
NM_032043.3(BRIP1):c.2576-7T>A rs759408257
NM_032043.3(BRIP1):c.2576-8T>C rs587780874
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe) rs1555573507
NM_032043.3(BRIP1):c.2580T>C (p.Leu860=) rs1603277017
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro) rs1567732145
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs) rs1567732136
NM_032043.3(BRIP1):c.2583T>G (p.Ser861=) rs2144118726
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu) rs1603277012
NM_032043.3(BRIP1):c.2586A>G (p.Lys862=) rs745318756
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.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs) rs1603277005
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.2592A>G (p.Val864=) rs2061361778
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro) rs781609846
NM_032043.3(BRIP1):c.2595G>A (p.Arg865=)
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
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.2604T>C (p.Ile868=) rs1555573489
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu) rs1060501766
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
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.2631A>G (p.Ala877=) rs786201336
NM_032043.3(BRIP1):c.2634G>A (p.Leu878=)
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.2640C>T (p.Ser880=) rs2144116731
NM_032043.3(BRIP1):c.2640del (p.Leu881fs) rs1567731917
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.2643G>A (p.Leu881=) rs2144116635
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys) rs2061359691
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
NM_032043.3(BRIP1):c.264T>C (p.Cys88=)
NM_032043.3(BRIP1):c.2655C>T (p.Ser885=) rs2061359430
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.2664T>C (p.His888=) rs2144115975
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg) rs2061359230
NM_032043.3(BRIP1):c.2667A>G (p.Gln889=)
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg) rs902432731
NM_032043.3(BRIP1):c.2670A>G (p.Lys890=) rs1603276885
NM_032043.3(BRIP1):c.2670del (p.Val891fs) rs2144115743
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.2676T>C (p.Leu892=) rs2144115485
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His) rs2144115463
NM_032043.3(BRIP1):c.2679T>C (p.Asn893=) rs2144115408
NM_032043.3(BRIP1):c.267A>G (p.Ala89=) rs764027029
NM_032043.3(BRIP1):c.267A>T (p.Ala89=) rs764027029
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile) rs1603276880
NM_032043.3(BRIP1):c.2682A>G (p.Val894=) rs1555573439
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu) rs764406913
NM_032043.3(BRIP1):c.2690del (p.Lys897fs) rs2061358219
NM_032043.3(BRIP1):c.2691G>A (p.Lys897=) rs1555573425
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
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.26del (p.Thr9fs) rs2145865744
NM_032043.3(BRIP1):c.2700C>A (p.Thr900=)
NM_032043.3(BRIP1):c.2700C>G (p.Thr900=)
NM_032043.3(BRIP1):c.2700C>T (p.Thr900=)
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys) rs1603276837
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro) rs2061357542
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
NM_032043.3(BRIP1):c.2709G>A (p.Gln903=)
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.3(BRIP1):c.270C>T (p.Cys90=) rs1060501740
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.2716G>T (p.Glu906Ter) rs759080195
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.2721T>A (p.Ser907=) rs774467171
NM_032043.3(BRIP1):c.2721T>C (p.Ser907=) rs774467171
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.2729_2730del (p.Glu910fs) rs2144113535
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.2733del (p.Thr912fs)
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.2737del (p.Ser913fs) rs1555573386
NM_032043.3(BRIP1):c.2739T>C (p.Ser913=) rs878855147
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.2741del (p.Ser913_Leu914insTer) rs2144113001
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs) rs2144112699
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.2754C>T (p.Thr918=) rs878855148
NM_032043.3(BRIP1):c.2754_2755delinsTC (p.Ser919Pro)
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs) rs1603276728
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.2763T>C (p.Tyr921=) rs1555573356
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del) rs2061355023
NM_032043.3(BRIP1):c.2766A>G (p.Leu922=) rs2144112073
NM_032043.3(BRIP1):c.2767C>T (p.Leu923=) rs1057521544
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro) rs2144112007
NM_032043.3(BRIP1):c.2769G>A (p.Leu923=) rs1183897309
NM_032043.3(BRIP1):c.276A>G (p.Ser92=) rs786202281
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.2772A>G (p.Glu924=) rs730881625
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.2775A>G (p.Ala925=) rs1340804078
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly) rs2061355061
NM_032043.3(BRIP1):c.2785C>T (p.Leu929=) rs1603276698
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro) rs772087074
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs) rs1295703239
NM_032043.3(BRIP1):c.2788T>A (p.Ser930Thr)
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2790A>C (p.Ser930=)
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.2792del (p.Pro931fs) rs1555573327
NM_032043.3(BRIP1):c.2799T>C (p.Asn933=) rs2144110883
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.2805G>C (p.Val935=)
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.2808A>G (p.Glu936=)
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.2812G>T (p.Glu938Ter) 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.2814A>G (p.Glu938=) rs1555573311
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr) rs2061354305
NM_032043.3(BRIP1):c.2817A>G (p.Ala939=)
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.2829C>G (p.Val943=) rs767164240
NM_032043.3(BRIP1):c.2829C>T (p.Val943=) rs767164240
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
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.2831dup (p.Glu945fs)
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.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2835A>G (p.Glu945=) rs786203633
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.2839C>T (p.Gln947Ter) rs2061353270
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
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.2847T>C (p.Pro949=) rs45499991
NM_032043.3(BRIP1):c.2847T>G (p.Pro949=) rs45499991
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.2853T>C (p.Ile951=)
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.2859C>A (p.Thr953=) rs786201685
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.2867C>G (p.Ser956Ter) rs761639530
NM_032043.3(BRIP1):c.2868A>G (p.Ser956=) rs1060504321
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.2871T>C (p.Pro957=) rs786202095
NM_032043.3(BRIP1):c.2872C>T (p.Leu958=) rs1555573260
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro) rs145859791
NM_032043.3(BRIP1):c.2874A>C (p.Leu958=)
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.2883C>T (p.Ser961=) rs367728797
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val) rs1603276520
NM_032043.3(BRIP1):c.288A>G (p.Thr96=) rs1278121295
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.2895A>G (p.Arg965=) rs2061351890
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
NM_032043.3(BRIP1):c.2898G>A (p.Lys966=) rs1603276512
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys) rs1305928655
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
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+11T>C
NM_032043.3(BRIP1):c.2905+13C>A rs2144107162
NM_032043.3(BRIP1):c.2905+16C>G rs778341139
NM_032043.3(BRIP1):c.2905+17C>A rs1458780264
NM_032043.3(BRIP1):c.2905+17C>G rs1458780264
NM_032043.3(BRIP1):c.2905+17C>T rs1458780264
NM_032043.3(BRIP1):c.2905+18C>T
NM_032043.3(BRIP1):c.2905+19A>G rs1363568922
NM_032043.3(BRIP1):c.2905+19_2905+23del rs1157279744
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
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.2905+9A>C rs770944170
NM_032043.3(BRIP1):c.2906-10G>A rs1437222408
NM_032043.3(BRIP1):c.2906-13C>A
NM_032043.3(BRIP1):c.2906-13C>T
NM_032043.3(BRIP1):c.2906-15T>C
NM_032043.3(BRIP1):c.2906-17A>C
NM_032043.3(BRIP1):c.2906-18A>C
NM_032043.3(BRIP1):c.2906-18A>G
NM_032043.3(BRIP1):c.2906-18dup rs1456830185
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.2906-6T>A
NM_032043.3(BRIP1):c.2906-7T>C rs1237575383
NM_032043.3(BRIP1):c.2906-7T>G rs1237575383
NM_032043.3(BRIP1):c.2906-8A>G rs1555573005
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser) rs1603275723
NM_032043.3(BRIP1):c.2907T>C (p.Asn969=) rs1555572999
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn) rs1555572994
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2913A>G (p.Pro971=) rs1603275716
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
NM_032043.3(BRIP1):c.2916A>G (p.Val972=)
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.291C>T (p.Asn97=) rs766561078
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
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.292_293del (p.Asn97_Asn98insTer) rs2145828926
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.2940A>C (p.Ala980=) rs1603275683
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.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
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>C (p.Asn98=) rs1555617859
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.2958C>T (p.Ser986=) rs1603275662
NM_032043.3(BRIP1):c.2959A>C (p.Arg987=) rs1603275660
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.2962del (p.Ser988fs) rs2061324917
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe) rs758032378
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn) rs2144092757
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
NM_032043.3(BRIP1):c.2970C>T (p.Ser990=) rs1603275650
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu) rs2061324725
NM_032043.3(BRIP1):c.2973A>G (p.Pro991=)
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.2978dup (p.Asn994fs) rs2144092520
NM_032043.3(BRIP1):c.2979C>T (p.Phe993=)
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu) rs201617644
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
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.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs) rs771028677
NM_032043.3(BRIP1):c.2991A>C (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu) rs1603275633
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.2994G>A (p.Lys998=) rs757225144
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn) rs757225144
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
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.3003C>T (p.Ser1001=) rs2144091676
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
NM_032043.3(BRIP1):c.3009A>C (p.Ser1003=)
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=) rs751823379
NM_032043.3(BRIP1):c.3015T>C (p.Phe1005=)
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter) rs1603275598
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.3022_3047del (p.Leu1008fs)
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser) rs2061323067
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs) rs2144091036
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs) rs2144091008
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.3027A>G (p.Gly1009=) rs786201171
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His) rs1567729362
NM_032043.3(BRIP1):c.3039T>A (p.Thr1013=) rs863224803
NM_032043.3(BRIP1):c.3039T>C (p.Thr1013=) rs863224803
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs) rs2144090521
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
NM_032043.3(BRIP1):c.303C>T (p.Asn101=) rs1425170841
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
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.3053del (p.Lys1018fs) rs2144090014
NM_032043.3(BRIP1):c.3054G>A (p.Lys1018=)
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.3063T>C (p.Pro1021=) rs2061321607
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.3069C>G (p.Leu1023=) rs61754142
NM_032043.3(BRIP1):c.306A>G (p.Gln102=)
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg) rs147119272
NM_032043.3(BRIP1):c.3072G>A (p.Gly1024=) rs778500245
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3075A>C (p.Ser1025=) rs1060504319
NM_032043.3(BRIP1):c.3075A>G (p.Ser1025=) rs1060504319
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro) rs756712872
NM_032043.3(BRIP1):c.3078A>G (p.Ser1026=) rs786201657
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.3081G>A (p.Glu1027=) rs777660106
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>C (p.Asn1028=) rs1424179519
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys) rs1424179519
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
NM_032043.3(BRIP1):c.3087T>C (p.Ser1029=) rs1555572848
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.308del (p.Gly103fs) rs1555617834
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser) rs876659119
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr) rs765416041
NM_032043.3(BRIP1):c.3102C>T (p.Pro1034=) rs2144088075
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.3117G>A (p.Glu1039=) rs769310105
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
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.3120G>A (p.Lys1040=) rs2144087482
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.3126A>G (p.Glu1042=) rs2061319012
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs) rs2061318961
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn) rs1555572825
NM_032043.3(BRIP1):c.312T>C (p.Thr104=)
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
NM_032043.3(BRIP1):c.3135T>C (p.Thr1045=)
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.3136_3137del (p.Val1046fs)
NM_032043.3(BRIP1):c.3141G>A (p.Leu1047=)
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu) rs896510433
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala) rs1567728933
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
NM_032043.3(BRIP1):c.3150T>G (p.Thr1050=) rs1603275447
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg) rs2061318138
NM_032043.3(BRIP1):c.315A>C (p.Ser105=)
NM_032043.3(BRIP1):c.315A>T (p.Ser105=) rs1555617827
NM_032043.3(BRIP1):c.3162A>G (p.Glu1054=) rs2144086078
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.3165C>G (p.Ser1055=) rs1447544706
NM_032043.3(BRIP1):c.3165C>T (p.Ser1055=) rs1447544706
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
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.3174G>C (p.Leu1058=) rs1555572806
NM_032043.3(BRIP1):c.3174G>T (p.Leu1058=)
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.3183C>T (p.Asn1061=) rs1555572792
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile) rs770517912
NM_032043.3(BRIP1):c.3186A>G (p.Thr1062=)
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
NM_032043.3(BRIP1):c.3189G>A (p.Ser1063=) rs878855152
NM_032043.3(BRIP1):c.318T>A (p.Arg106=) rs772283705
NM_032043.3(BRIP1):c.318T>C (p.Arg106=) rs772283705
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.3201C>T (p.Cys1067=) rs1477019492
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
NM_032043.3(BRIP1):c.3204T>C (p.Pro1068=) rs2144084552
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu) rs2061316417
NM_032043.3(BRIP1):c.3207A>G (p.Gln1069=) rs1555572778
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.320A>C (p.His107Pro) rs876659809
NM_032043.3(BRIP1):c.3210A>C (p.Ser1070=) rs1555572773
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.3216C>T (p.Thr1072=)
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs) rs1603366250
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.3225A>G (p.Ser1075=) rs1291039468
NM_032043.3(BRIP1):c.3225A>T (p.Ser1075=) rs1291039468
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu) rs864622113
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
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.3240T>C (p.Asp1080=) rs1603275354
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
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.3246C>A (p.Thr1082=)
NM_032043.3(BRIP1):c.3246C>T (p.Thr1082=) rs2144083106
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
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.3260dup (p.Asn1087fs) rs771654971
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.3267T>C (p.Ser1089=) rs876658543
NM_032043.3(BRIP1):c.3267T>G (p.Ser1089=) rs876658543
NM_032043.3(BRIP1):c.3270A>G (p.Glu1090=) rs1358278249
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.3276G>C (p.Pro1092=) rs375911315
NM_032043.3(BRIP1):c.3276G>T (p.Pro1092=) rs375911315
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.3279C>G (p.Leu1093=) rs1555572722
NM_032043.3(BRIP1):c.3279C>T (p.Leu1093=)
NM_032043.3(BRIP1):c.327C>T (p.Asn109=)
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.3285T>C (p.Ser1095=) rs774105218
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup) rs1603275271
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter) rs770509300
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.3294C>T (p.Ala1098=) rs748928248
NM_032043.3(BRIP1):c.3295C>T (p.Leu1099=)
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.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val) rs1567728360
NM_032043.3(BRIP1):c.3312A>G (p.Glu1104=) rs1555572697
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.3321A>G (p.Leu1107=) rs1603275229
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile) rs1275343223
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
NM_032043.3(BRIP1):c.3324A>T (p.Val1108=)
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys) rs1060501774
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) 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.3330A>G (p.Glu1110=) rs2061311198
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.333A>C (p.Pro111=)
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter) rs1555572681
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.3345C>A (p.Ser1115=) rs2144079396
NM_032043.3(BRIP1):c.3345C>T (p.Ser1115=) rs2144079396
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu) rs1555572672
NM_032043.3(BRIP1):c.3351A>G (p.Ser1117=) rs2144079200
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.3357A>G (p.Arg1119=)
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn) rs1555572663
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn) rs1555617813
NM_032043.3(BRIP1):c.3360T>C (p.Asp1120=) rs876660747
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.336C>T (p.Ser112=) rs1603366251
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
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>G (p.Glu1126=) rs145855459
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.3384A>G (p.Glu1128=) rs868546317
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs) rs2144077998
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs) rs2061309076
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.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys) rs1567728145
NM_032043.3(BRIP1):c.3393T>C (p.Tyr1131=)
NM_032043.3(BRIP1):c.3396T>C (p.Phe1132=) rs876659137
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile) rs1555572645
NM_032043.3(BRIP1):c.339A>C (p.Thr113=) rs2078906632
NM_032043.3(BRIP1):c.339A>G (p.Thr113=) rs2078906632
NM_032043.3(BRIP1):c.33T>C (p.Gly11=) rs759187663
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.3402T>G (p.Pro1134=) rs2061308538
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.3405A>G (p.Glu1135=) rs2144077304
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.3423T>C (p.Asp1141=) rs2144076602
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg) rs1279318199
NM_032043.3(BRIP1):c.3426A>G (p.Thr1142=)
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>C (p.Asp1143=) rs1315917374
NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu) rs1315917374
NM_032043.3(BRIP1):c.342A>G (p.Pro114=) rs756764576
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.3441T>C (p.Asn1147=)
NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly) rs2061306531
NM_032043.3(BRIP1):c.3444C>T (p.Asp1148=) rs28997573
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.3472T>C (p.Leu1158=) 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.3480C>T (p.Asn1160=) rs746898528
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.3498A>G (p.Leu1166=) rs1196759903
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.3504A>G (p.Lys1168=) rs1259866317
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.3507C>T (p.Asp1169=)
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.3522A>G (p.Arg1174=) rs2144073145
NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val) rs2061303537
NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)
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.3531A>G (p.Lys1177=) rs181186298
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.3537A>C (p.Val1179=)
NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His) rs2061303001
NM_032043.3(BRIP1):c.3543A>G (p.Ser1181=) rs1060504328
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr) rs1555572535
NM_032043.3(BRIP1):c.3546C>A (p.Ala1182=) rs755440956
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=) rs1057522561
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.3555G>A (p.Val1185=)
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
NM_032043.3(BRIP1):c.3558A>G (p.Lys1186=) rs1555572529
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs) rs2145826463
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val) rs1603274878
NM_032043.3(BRIP1):c.3561T>G (p.Ala1187=) rs2144071810
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.3564G>A (p.Glu1188=)
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.356del (p.Asn119fs) rs2145826750
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.3579A>G (p.Thr1193=) rs1060504331
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.3585G>A (p.Leu1195=) rs2061301182
NM_032043.3(BRIP1):c.3588T>C (p.Asn1196=) rs1555572517
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
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.3595C>T (p.Leu1199=) 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.3600T>C (p.His1200=)
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr) rs2061300384
NM_032043.3(BRIP1):c.3603T>C (p.Ile1201=) rs1239998940
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.360C>T (p.Gly120=) rs1060501730
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>C (p.Ile1206=)
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.3624C>T (p.Asp1208=) rs2144069601
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val) rs1603274780
NM_032043.3(BRIP1):c.3627T>A (p.Ile1209=) rs548674096
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.3630T>C (p.Asp1210=) rs2144069414
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.3639A>G (p.Val1213=) rs2144069102
NM_032043.3(BRIP1):c.363T>A (p.Thr121=) rs876660306
NM_032043.3(BRIP1):c.363T>C (p.Thr121=) rs876660306
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.3660A>G (p.Glu1220=) rs2144068349
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val) rs2061298344
NM_032043.3(BRIP1):c.3661C>T (p.Leu1221=) 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.3667C>T (p.Leu1223=) rs748310432
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs) rs2061297923
NM_032043.3(BRIP1):c.3669G>A (p.Leu1223=) rs1567727357
NM_032043.3(BRIP1):c.366A>G (p.Ser122=) rs1603366194
NM_032043.3(BRIP1):c.366A>T (p.Ser122=) rs1603366194
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr) rs2144067914
NM_032043.3(BRIP1):c.3675A>G (p.Lys1225=)
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.3690A>G (p.Glu1230=)
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.3696G>A (p.Lys1232=) rs2061297235
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
NM_032043.3(BRIP1):c.3699C>T (p.Asn1233=)
NM_032043.3(BRIP1):c.36G>C (p.Gly12=) rs45566938
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>C (p.Phe1234=)
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.3705A>G (p.Lys1235=)
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.3711T>C (p.Ser1237=) rs786203915
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.3717C>A (p.Ser1239=) rs758809865
NM_032043.3(BRIP1):c.3717C>G (p.Ser1239=)
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.372T>C (p.Thr124=) rs1555617785
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.3741T>A (p.Gly1247=) rs1555572413
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu) rs1567727102
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs) rs2061295225
NM_032043.3(BRIP1):c.3747G>A (p.Lys1249=) rs1264149264
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.3750A>G (p.Ter1250=)
NM_032043.3(BRIP1):c.375T>C (p.Cys125=)
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
NM_032043.3(BRIP1):c.378A>G (p.Gln126=) rs2145825894
NM_032043.3(BRIP1):c.379+10A>G
NM_032043.3(BRIP1):c.379+17C>T rs1567874393
NM_032043.3(BRIP1):c.379+19G>C rs2145825488
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+1G>T rs1437158047
NM_032043.3(BRIP1):c.379+2T>C rs2145825816
NM_032043.3(BRIP1):c.379+5T>A rs1603366174
NM_032043.3(BRIP1):c.379+6T>A
NM_032043.3(BRIP1):c.379+7T>C
NM_032043.3(BRIP1):c.379+8A>C rs1057520254
NM_032043.3(BRIP1):c.379+8A>G rs1057520254
NM_032043.3(BRIP1):c.379+9T>C
NM_032043.3(BRIP1):c.37G>A (p.Val13Met) rs1488264110
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
NM_032043.3(BRIP1):c.380-12T>C rs2145767396
NM_032043.3(BRIP1):c.380-13T>C
NM_032043.3(BRIP1):c.380-14A>G
NM_032043.3(BRIP1):c.380-16A>T rs769150213
NM_032043.3(BRIP1):c.380-17del rs545021924
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_032043.3(BRIP1):c.380-18T>A
NM_032043.3(BRIP1):c.380-1G>C rs2145767071
NM_032043.3(BRIP1):c.380-4T>C rs1416727235
NM_032043.3(BRIP1):c.380-6T>C rs780921390
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe) rs1603362723
NM_032043.3(BRIP1):c.384C>T (p.Ser128=) rs1555616231
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.386dup (p.Pro129_Glu130insTer) rs876660080
NM_032043.3(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys) rs876658860
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg) rs2078781626
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn) rs2078781577
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
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.39G>A (p.Val13=) rs2078972813
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.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.408A>T (p.Ala136=)
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu) rs878855157
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
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.420T>C (p.Ala140=) rs1555616190
NM_032043.3(BRIP1):c.420T>G (p.Ala140=) rs1555616190
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>A (p.Lys14=) rs2078972704
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.432A>G (p.Ala144=)
NM_032043.3(BRIP1):c.432A>T (p.Ala144=) rs1342776835
NM_032043.3(BRIP1):c.435C>T (p.Ser145=)
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val) rs1567868598
NM_032043.3(BRIP1):c.438A>C (p.Ile146=) rs886038702
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met) rs886038702
NM_032043.3(BRIP1):c.438A>T (p.Ile146=) 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.440del (p.Tyr147fs) rs1555616176
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer) rs2078779429
NM_032043.3(BRIP1):c.442A>C (p.Arg148=) rs876658914
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys) rs1243511600
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs) rs2145763904
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.447T>C (p.Asp149=)
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser) rs1555616165
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly) rs2145763474
NM_032043.3(BRIP1):c.459T>C (p.Asp153=) rs1603362599
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs) rs1567868477
NM_032043.3(BRIP1):c.462T>C (p.Phe154=) rs1555616156
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu) rs587781786
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
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.468A>G (p.Val156=) rs876660148
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.46del (p.Tyr16fs) rs876660613
NM_032043.3(BRIP1):c.471G>A (p.Glu157=) rs2078778336
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg) rs769364081
NM_032043.3(BRIP1):c.474del (p.Arg160fs) rs1603362580
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.477A>G (p.Lys159=)
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
NM_032043.3(BRIP1):c.478del (p.Arg160fs) rs1555616150
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.484C>A (p.Arg162=) rs747604569
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.489C>G (p.Pro163=)
NM_032043.3(BRIP1):c.48C>T (p.Tyr16=) rs1603368466
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.502del (p.Gln168fs)
NM_032043.3(BRIP1):c.504G>A (p.Gln168=) rs1064795698
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2145761401
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro) rs2078776978
NM_032043.3(BRIP1):c.507+10G>A rs1057523376
NM_032043.3(BRIP1):c.507+15T>C rs2145760774
NM_032043.3(BRIP1):c.507+16T>C
NM_032043.3(BRIP1):c.507+19C>A
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507+20A>G rs369270945
NM_032043.3(BRIP1):c.507+2T>A
NM_032043.3(BRIP1):c.507+3A>G
NM_032043.3(BRIP1):c.507+6C>T rs2078776834
NM_032043.3(BRIP1):c.507+7dup rs2145761034
NM_032043.3(BRIP1):c.507+9A>G rs2145760959
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.507G>T (p.Gln169His) rs876660937
NM_032043.3(BRIP1):c.508-10G>A rs2078749443
NM_032043.3(BRIP1):c.508-10G>C rs2078749443
NM_032043.3(BRIP1):c.508-10G>T
NM_032043.3(BRIP1):c.508-12C>T rs2145745562
NM_032043.3(BRIP1):c.508-16G>C rs1423428195
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-20T>G
NM_032043.3(BRIP1):c.508-2A>C rs876659707
NM_032043.3(BRIP1):c.508-2A>G rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.508-3C>T
NM_032043.3(BRIP1):c.508-8G>A rs202074040
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val) rs1603361718
NM_032043.3(BRIP1):c.510T>C (p.Ile170=)
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu) rs1060501765
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter) rs1060501765
NM_032043.3(BRIP1):c.516A>G (p.Lys172=)
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.525C>T (p.Cys175=) rs2078748660
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val) rs746963627
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
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.532del (p.Thr178fs)
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.534A>G (p.Thr178=) rs2145744562
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
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.543C>T (p.His181=) rs1285947952
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser) rs2145744130
NM_032043.3(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.3(BRIP1):c.549G>A (p.Leu183=) rs1060504335
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe) rs1060504335
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn) rs201047375
NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr) rs745645356
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.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala) rs2078747614
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter) rs1555615763
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.576T>C (p.Thr192=) rs781282996
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.3(BRIP1):c.579A>G (p.Val193=) rs2145743084
NM_032043.3(BRIP1):c.57T>C (p.Tyr19=) rs876659588
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.588C>T (p.Asn196=) 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.591T>A (p.Ser197=)
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
NM_032043.3(BRIP1):c.594A>G (p.Pro198=) rs2145742604
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.600A>G (p.Glu200=)
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg) rs1555615729
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
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.604del (p.Lys201_Ile202insTer) rs1603361577
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser) rs2078745913
NM_032043.3(BRIP1):c.608del (p.Asn203fs) rs1603361570
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.612C>T (p.Ser204=)
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.618G>A (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.618G>C (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.618G>T (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu) rs2145741807
NM_032043.3(BRIP1):c.621A>G (p.Pro207=)
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+11A>G
NM_032043.3(BRIP1):c.627+15C>T
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+2T>A rs2078745026
NM_032043.3(BRIP1):c.627+2_627+9dup
NM_032043.3(BRIP1):c.627+3A>G rs777434654
NM_032043.3(BRIP1):c.627+6T>C
NM_032043.3(BRIP1):c.627+7A>G rs1060504334
NM_032043.3(BRIP1):c.627A>G (p.Lys209=) rs1555615717
NM_032043.3(BRIP1):c.628-10T>C rs375646029
NM_032043.3(BRIP1):c.628-11del
NM_032043.3(BRIP1):c.628-15T>C
NM_032043.3(BRIP1):c.628-15dup rs2078118670
NM_032043.3(BRIP1):c.628-1G>A rs1219435870
NM_032043.3(BRIP1):c.628-2A>G rs995056553
NM_032043.3(BRIP1):c.628-2A>T rs995056553
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
NM_032043.3(BRIP1):c.628-2dup
NM_032043.3(BRIP1):c.628-3C>T
NM_032043.3(BRIP1):c.628-5T>C
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.628-6T>G
NM_032043.3(BRIP1):c.628-7C>T rs2145424156
NM_032043.3(BRIP1):c.628-8del rs2145424216
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.630C>T (p.Pro210=) rs864622510
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.632del (p.Pro211fs) rs1060501779
NM_032043.3(BRIP1):c.633T>C (p.Pro211=) rs1603347066
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.636C>A (p.Gly212=) rs1057520255
NM_032043.3(BRIP1):c.637del (p.His213fs)
NM_032043.3(BRIP1):c.638A>C (p.His213Pro) rs376760085
NM_032043.3(BRIP1):c.63T>C (p.Ala21=) rs2145864480
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
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.644_645del (p.Cys214_Ser215insTer) rs2078117088
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.651C>T (p.Cys217=) rs1555609365
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>C (p.Cys218=) rs2145422653
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.664A>T (p.Lys222Ter) rs1603346983
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter) rs786201733
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.66C>T (p.Tyr22=) rs1603368431
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.672A>C (p.Gly224=) rs752356873
NM_032043.3(BRIP1):c.675C>T (p.Asn225=) rs2145421606
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn) rs2078115717
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
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.680_681del (p.Gln227fs)
NM_032043.3(BRIP1):c.681A>G (p.Gln227=) rs1603346946
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.688del (p.Ser230fs)
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.690G>A (p.Ser230=) rs751460179
NM_032043.3(BRIP1):c.690G>C (p.Ser230=) rs751460179
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.696C>T (p.Thr232=) rs772957320
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val) rs769535320
NM_032043.3(BRIP1):c.699T>C (p.Ile233=)
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.711T>C (p.His237=) rs772048413
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala) rs1490001091
NM_032043.3(BRIP1):c.717G>A (p.Gly239=) rs2078113961
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.71dup (p.Gln25fs) rs2145864140
NM_032043.3(BRIP1):c.720A>G (p.Lys240=) rs1259212372
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
NM_032043.3(BRIP1):c.723C>T (p.Ser241=) rs1567838225
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.732C>T (p.Pro244=) rs786202300
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg) rs1064795594
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
NM_032043.3(BRIP1):c.735A>G (p.Lys245=) rs2145419080
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.73C>T (p.Gln25Ter) rs2078971612
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg) rs2145864048
NM_032043.3(BRIP1):c.73_93+14del rs2145863122
NM_032043.3(BRIP1):c.741T>C (p.Tyr247=)
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.747G>A (p.Gly249=) rs2145418607
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.750A>T (p.Thr250=) rs1057522393
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.756A>G (p.Thr252=)
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.759_760dup (p.Lys254fs) rs2078112240
NM_032043.3(BRIP1):c.75G>A (p.Gln25=) rs1555618712
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg) rs2145417925
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
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.765G>A (p.Gln255=) rs2078111971
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val) rs2145417649
NM_032043.3(BRIP1):c.768T>C (p.Ile256=) rs1452578169
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.772C>T (p.Gln258Ter) rs1555609257
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.777dup (p.Thr260fs) rs1555609254
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
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>A (p.Glu262=) rs876658312
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.789C>A (p.Leu263=) rs1603346789
NM_032043.3(BRIP1):c.789C>G (p.Leu263=) rs1603346789
NM_032043.3(BRIP1):c.789C>T (p.Leu263=) rs1603346789
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly) rs28997569
NM_032043.3(BRIP1):c.792G>T (p.Arg264=) rs1555609230
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.798G>A (p.Thr266=) rs1260055674
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs) rs1603368490
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.804T>C (p.Tyr268=) rs587782514
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro) rs2078110345
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu) rs1412610651
NM_032043.3(BRIP1):c.807A>G (p.Ser269=)
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg) rs1401241698
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
NM_032043.3(BRIP1):c.816A>C (p.Pro272=) rs765027420
NM_032043.3(BRIP1):c.816A>G (p.Pro272=) rs765027420
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.822T>C (p.Thr274=)
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.831C>T (p.Ser277=) rs45549332
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.834C>T (p.Ser278=) rs1060501725
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
NM_032043.3(BRIP1):c.837G>A (p.Arg279=)
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.840del (p.His281fs) rs1555609191
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.843T>C (p.His281=) rs1555609187
NM_032043.3(BRIP1):c.844dup (p.Thr282fs) rs2145414039
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile) rs45624635
NM_032043.3(BRIP1):c.846T>C (p.Thr282=) rs2145413899
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.855T>C (p.His285=)
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.858T>C (p.Pro286=) rs2145413343
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.864A>G (p.Val288=) rs748545827
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.866del (p.Val289fs) rs864622166
NM_032043.3(BRIP1):c.867C>A (p.Val289=) rs147739458
NM_032043.3(BRIP1):c.867C>G (p.Val289=) rs147739458
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.876del (p.Phe292fs) rs1555609162
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile) rs769585673
NM_032043.3(BRIP1):c.885T>C (p.Asn295=)
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.890_891insT (p.Lys297fs) rs878855159
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
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>C (p.Leu301=) rs2145411199
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser) rs750376292
NM_032043.3(BRIP1):c.903G>A (p.Leu301=) rs876660578
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
NM_032043.3(BRIP1):c.906A>G (p.Leu302=)
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.909T>C (p.Asp303=)
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.912G>A (p.Gly304=) rs786201326
NM_032043.3(BRIP1):c.912G>C (p.Gly304=) rs786201326
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser) rs1567837564
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.3(BRIP1):c.918+10G>A rs1365605495
NM_032043.3(BRIP1):c.918+12T>G
NM_032043.3(BRIP1):c.918+14T>C rs757068323
NM_032043.3(BRIP1):c.918+14T>G
NM_032043.3(BRIP1):c.918+17T>C
NM_032043.3(BRIP1):c.918+17del
NM_032043.3(BRIP1):c.918+2790_1121del
NM_032043.3(BRIP1):c.918+5G>A rs2078106072
NM_032043.3(BRIP1):c.918+7A>G rs1060504329
NM_032043.3(BRIP1):c.918+8A>C rs765147876
NM_032043.3(BRIP1):c.918+9A>G rs2145410020
NM_032043.3(BRIP1):c.918C>T (p.Asn306=) rs876660724
NM_032043.3(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.3(BRIP1):c.919-10T>A
NM_032043.3(BRIP1):c.919-12A>G
NM_032043.3(BRIP1):c.919-14A>G rs928815517
NM_032043.3(BRIP1):c.919-14A>T
NM_032043.3(BRIP1):c.919-16G>A
NM_032043.3(BRIP1):c.919-16G>T
NM_032043.3(BRIP1):c.919-17dup
NM_032043.3(BRIP1):c.919-18A>C
NM_032043.3(BRIP1):c.919-18A>T rs773910941
NM_032043.3(BRIP1):c.919-1G>A
NM_032043.3(BRIP1):c.919-3T>C rs2077994124
NM_032043.3(BRIP1):c.919-4C>T
NM_032043.3(BRIP1):c.919-8G>A rs777079928
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.921A>G (p.Gly307=) rs786202337
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+10T>A rs2145863247
NM_032043.3(BRIP1):c.93+11_93+12dup rs1064794767
NM_032043.3(BRIP1):c.93+14A>C
NM_032043.3(BRIP1):c.93+15G>T rs113052745
NM_032043.3(BRIP1):c.93+17A>G rs778826728
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2T>C rs775755739
NM_032043.3(BRIP1):c.93+2del
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.93+9T>A
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.932_935del (p.Tyr311fs) rs1555607792
NM_032043.3(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile) rs2145342258
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.3(BRIP1):c.93T>C (p.Ser31=) rs1555618697
NM_032043.3(BRIP1):c.94-10del rs2145853311
NM_032043.3(BRIP1):c.94-16G>C
NM_032043.3(BRIP1):c.94-1G>A
NM_032043.3(BRIP1):c.94-4A>T rs765154059
NM_032043.3(BRIP1):c.94-5C>G rs2078952191
NM_032043.3(BRIP1):c.94-7_178dup rs1555618396
NM_032043.3(BRIP1):c.94-8G>A
NM_032043.3(BRIP1):c.94-8G>T rs750361927
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
NM_032043.3(BRIP1):c.941A>G (p.His314Arg) rs112076926
NM_032043.3(BRIP1):c.942T>C (p.His314=)
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.945A>T (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.957T>C (p.Ile319=)
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly) rs2145341128
NM_032043.3(BRIP1):c.958del (p.Ser320fs) rs864622236
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly) rs2077992652
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter) rs587778139
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg) rs1567832102
NM_032043.3(BRIP1):c.966G>A (p.Gln322=) rs2145340652
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.969C>T (p.His323=) rs1555607775
NM_032043.3(BRIP1):c.96del (p.Leu33fs) rs1603367753
NM_032043.3(BRIP1):c.972A>G (p.Thr324=) rs779627397
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.978G>A (p.Gln326=) rs1555607764
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile) rs2145339793
NM_032043.3(BRIP1):c.981T>A (p.Thr327=) rs2145339751
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser) rs876659057
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs) rs2145339188
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter) rs2077991700
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
NM_032043.3(BRIP1):c.986A>G (p.Gln329Arg) rs778863018
NM_032043.3(BRIP1):c.990G>A (p.Gly330=) rs1060504320
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.1010C>A (p.Pro337Gln) rs200363140
NM_032444.4(SLX4):c.1014T>C (p.Ile338=)
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.1029del (p.Thr345fs)
NM_032444.4(SLX4):c.103C>T (p.Pro35Ser) rs2040816588
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.106G>T (p.Glu36Ter)
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.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1094A>G (p.Gln365Arg) rs1243083910
NM_032444.4(SLX4):c.1094A>T (p.Gln365Leu)
NM_032444.4(SLX4):c.1095G>A (p.Gln365=) rs2151134031
NM_032444.4(SLX4):c.1097_1098delinsAA (p.Leu366Gln) rs2151134024
NM_032444.4(SLX4):c.1108G>C (p.Ala370Pro)
NM_032444.4(SLX4):c.1114C>T (p.Arg372Trp) rs781393524
NM_032444.4(SLX4):c.1119G>A (p.Leu373=)
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter) rs1171341642
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.1163+10C>G rs80116508
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1163+11G>T
NM_032444.4(SLX4):c.1163+1G>A
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.1164-15T>G
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.1188G>A (p.Leu396=) rs2151132132
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.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1230G>A (p.Arg410=) rs991787767
NM_032444.4(SLX4):c.1236G>A (p.Lys412=)
NM_032444.4(SLX4):c.1237G>C (p.Val413Leu)
NM_032444.4(SLX4):c.1239G>A (p.Val413=)
NM_032444.4(SLX4):c.1242C>T (p.Asp414=)
NM_032444.4(SLX4):c.1246G>A (p.Ala416Thr) rs1273526453
NM_032444.4(SLX4):c.1250C>T (p.Pro417Leu)
NM_032444.4(SLX4):c.1254C>G (p.Ser418=)
NM_032444.4(SLX4):c.1254C>T (p.Ser418=)
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
NM_032444.4(SLX4):c.1257G>A (p.Glu419=) rs2151131965
NM_032444.4(SLX4):c.1259A>G (p.Asp420Gly) rs1596527931
NM_032444.4(SLX4):c.1266G>C (p.Leu422=)
NM_032444.4(SLX4):c.1272C>T (p.Ala424=) rs2151131919
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.1284C>G (p.Ser428=)
NM_032444.4(SLX4):c.1286G>A (p.Arg429Gln)
NM_032444.4(SLX4):c.1286G>T (p.Arg429Leu)
NM_032444.4(SLX4):c.1290G>A (p.Ser430=)
NM_032444.4(SLX4):c.1298A>G (p.Glu433Gly) rs2151131871
NM_032444.4(SLX4):c.1302G>A (p.Pro434=)
NM_032444.4(SLX4):c.1302G>T (p.Pro434=)
NM_032444.4(SLX4):c.1320G>T (p.Ala440=)
NM_032444.4(SLX4):c.1322T>A (p.Leu441His) rs2040681820
NM_032444.4(SLX4):c.1322T>C (p.Leu441Pro)
NM_032444.4(SLX4):c.1326G>A (p.Arg442=)
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+10A>T
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.1367-14T>C rs2151131642
NM_032444.4(SLX4):c.1367-17C>T
NM_032444.4(SLX4):c.1367-7T>C rs2040679730
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.1395G>A (p.Pro465=) rs569518866
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.1404C>A (p.Pro468=)
NM_032444.4(SLX4):c.1404C>T (p.Pro468=)
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.1406dup (p.Leu470fs)
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.1488A>G (p.Glu496=) rs1596527585
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.1511C>G (p.Pro504Arg) rs569591337
NM_032444.4(SLX4):c.1521G>A (p.Arg507=)
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
NM_032444.4(SLX4):c.1545A>G (p.Arg515=)
NM_032444.4(SLX4):c.1546G>T (p.Ala516Ser) rs1260563876
NM_032444.4(SLX4):c.1548G>A (p.Ala516=)
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp) rs772562892
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
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.1569T>C (p.Pro523=) rs2151131241
NM_032444.4(SLX4):c.1571A>T (p.Glu524Val)
NM_032444.4(SLX4):c.1572A>G (p.Glu524=)
NM_032444.4(SLX4):c.1594G>A (p.Glu532Lys) rs2040675047
NM_032444.4(SLX4):c.1596G>A (p.Glu532=) rs2151131185
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.1641G>C (p.Thr547=)
NM_032444.4(SLX4):c.1643C>G (p.Ala548Gly)
NM_032444.4(SLX4):c.1644C>T (p.Ala548=)
NM_032444.4(SLX4):c.1646G>C (p.Arg549Thr)
NM_032444.4(SLX4):c.1655C>T (p.Pro552Leu)
NM_032444.4(SLX4):c.1656T>G (p.Pro552=) rs1596527364
NM_032444.4(SLX4):c.1663G>A (p.Val555Met) rs763869769
NM_032444.4(SLX4):c.1672C>A (p.Arg558=) rs372264472
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.1683+7C>T rs1489386420
NM_032444.4(SLX4):c.1683+9C>T rs1242929879
NM_032444.4(SLX4):c.1684-11G>A
NM_032444.4(SLX4):c.1684-12G>T
NM_032444.4(SLX4):c.1684-18C>T
NM_032444.4(SLX4):c.1684-1G>A
NM_032444.4(SLX4):c.1684-2A>C
NM_032444.4(SLX4):c.1692G>A (p.Met564Ile) rs2151130279
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.1731dup (p.Glu578fs)
NM_032444.4(SLX4):c.1738A>G (p.Ser580Gly)
NM_032444.4(SLX4):c.1743G>A (p.Glu581=)
NM_032444.4(SLX4):c.1748G>A (p.Arg583Lys) rs750768695
NM_032444.4(SLX4):c.1748G>C (p.Arg583Thr)
NM_032444.4(SLX4):c.1755C>A (p.Pro585=) rs114016359
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.1800G>A (p.Pro600=) rs777829533
NM_032444.4(SLX4):c.1808C>G (p.Ser603Trp)
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
NM_032444.4(SLX4):c.1824G>T (p.Glu608Asp) rs1028896815
NM_032444.4(SLX4):c.183G>A (p.Arg61=) rs2040815577
NM_032444.4(SLX4):c.1844T>C (p.Leu615Pro)
NM_032444.4(SLX4):c.1851C>T (p.Asp617=) rs754155444
NM_032444.4(SLX4):c.1857G>C (p.Ala619=) rs375786206
NM_032444.4(SLX4):c.1860G>A (p.Arg620=)
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
NM_032444.4(SLX4):c.186G>A (p.Val62=)
NM_032444.4(SLX4):c.1880C>T (p.Pro627Leu) rs774683778
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs) rs1266198754
NM_032444.4(SLX4):c.1881G>T (p.Pro627=)
NM_032444.4(SLX4):c.1887C>A (p.Pro629=)
NM_032444.4(SLX4):c.1887C>T (p.Pro629=) rs762862604
NM_032444.4(SLX4):c.1892G>C (p.Ser631Thr) rs2151129871
NM_032444.4(SLX4):c.1893T>C (p.Ser631=)
NM_032444.4(SLX4):c.1893T>G (p.Ser631Arg)
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032444.4(SLX4):c.189A>G (p.Lys63=)
NM_032444.4(SLX4):c.1904C>A (p.Ala635Asp)
NM_032444.4(SLX4):c.1911G>A (p.Ser637=) rs200013924
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
NM_032444.4(SLX4):c.1913A>C (p.Glu638Ala)
NM_032444.4(SLX4):c.1917G>A (p.Gly639=) rs933524149
NM_032444.4(SLX4):c.1917G>T (p.Gly639=)
NM_032444.4(SLX4):c.1920T>C (p.Thr640=)
NM_032444.4(SLX4):c.1924+11G>T rs2151129785
NM_032444.4(SLX4):c.1924+13G>C
NM_032444.4(SLX4):c.1924+8G>A
NM_032444.4(SLX4):c.1925-19C>T
NM_032444.4(SLX4):c.1925-3C>T rs1567172965
NM_032444.4(SLX4):c.1925-4T>C rs2040644472
NM_032444.4(SLX4):c.192A>C (p.Lys64Asn) rs756720856
NM_032444.4(SLX4):c.1948C>T (p.Leu650Phe)
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
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.1998G>A (p.Arg666=) rs1596525936
NM_032444.4(SLX4):c.2001C>T (p.Gly667=)
NM_032444.4(SLX4):c.2002G>A (p.Gly668Ser)
NM_032444.4(SLX4):c.2004C>G (p.Gly668=)
NM_032444.4(SLX4):c.2013+18C>T
NM_032444.4(SLX4):c.2013+2T>C
NM_032444.4(SLX4):c.2013+5G>T
NM_032444.4(SLX4):c.2013+6A>C rs2151129261
NM_032444.4(SLX4):c.2014-10C>T
NM_032444.4(SLX4):c.2014-10_2014-8del rs759422070
NM_032444.4(SLX4):c.2014-15C>T
NM_032444.4(SLX4):c.2014-17C>T
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.2026C>T (p.Leu676=)
NM_032444.4(SLX4):c.2027T>C (p.Leu676Pro)
NM_032444.4(SLX4):c.202A>G (p.Lys68Glu)
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
NM_032444.4(SLX4):c.2045G>T (p.Gly682Val) rs765804056
NM_032444.4(SLX4):c.2046C>A (p.Gly682=)
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.207A>G (p.Glu69=) rs2040815069
NM_032444.4(SLX4):c.208G>C (p.Val70Leu)
NM_032444.4(SLX4):c.2091G>A (p.Thr697=)
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.2139A>G (p.Arg713=) rs2151128422
NM_032444.4(SLX4):c.2142C>T (p.Cys714=)
NM_032444.4(SLX4):c.2145G>A (p.Pro715=)
NM_032444.4(SLX4):c.2148C>T (p.Leu716=)
NM_032444.4(SLX4):c.2150T>C (p.Leu717Pro) rs1596525067
NM_032444.4(SLX4):c.2160+11G>A
NM_032444.4(SLX4):c.2160+19G>A rs759835803
NM_032444.4(SLX4):c.2160+8C>A
NM_032444.4(SLX4):c.2160+9G>A
NM_032444.4(SLX4):c.2160T>C (p.Tyr720=)
NM_032444.4(SLX4):c.2161-2A>T rs2151127331
NM_032444.4(SLX4):c.2161-4G>T
NM_032444.4(SLX4):c.2161-6C>A rs2151127337
NM_032444.4(SLX4):c.2175C>A (p.Gly725=) rs1455889621
NM_032444.4(SLX4):c.2175C>T (p.Gly725=)
NM_032444.4(SLX4):c.2185G>A (p.Val729Ile)
NM_032444.4(SLX4):c.2190G>A (p.Glu730=)
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.2205C>T (p.Thr735=) rs2151127266
NM_032444.4(SLX4):c.2209C>T (p.Arg737Cys) rs140706384
NM_032444.4(SLX4):c.2217G>A (p.Leu739=) rs1596523977
NM_032444.4(SLX4):c.2222G>A (p.Gly741Asp)
NM_032444.4(SLX4):c.2223T>A (p.Gly741=) rs777278153
NM_032444.4(SLX4):c.2223T>G (p.Gly741=) rs777278153
NM_032444.4(SLX4):c.2231G>A (p.Ser744Asn) rs1307528536
NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)
NM_032444.4(SLX4):c.2250G>A (p.Thr750=)
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.2327+10G>C
NM_032444.4(SLX4):c.2327+15C>T
NM_032444.4(SLX4):c.2328-10C>T
NM_032444.4(SLX4):c.2328-11T>C rs1390856264
NM_032444.4(SLX4):c.2328-11T>G
NM_032444.4(SLX4):c.2328-17G>C
NM_032444.4(SLX4):c.2328-20G>A
NM_032444.4(SLX4):c.2328-9G>A rs73505419
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.2358C>T (p.Cys786=)
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>A (p.Gln788=)
NM_032444.4(SLX4):c.2364G>C (p.Gln788His)
NM_032444.4(SLX4):c.2368C>T (p.Pro790Ser)
NM_032444.4(SLX4):c.2372T>G (p.Ile791Ser) rs2040591427
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter) rs2151126006
NM_032444.4(SLX4):c.2388G>A (p.Glu796=) rs113965715
NM_032444.4(SLX4):c.2391C>A (p.Gly797=) rs147208178
NM_032444.4(SLX4):c.2391C>T (p.Gly797=)
NM_032444.4(SLX4):c.2401GAG[1] (p.Glu802del) rs2151125964
NM_032444.4(SLX4):c.2409G>A (p.Lys803=)
NM_032444.4(SLX4):c.2416G>C (p.Glu806Gln)
NM_032444.4(SLX4):c.2418G>T (p.Glu806Asp) rs2151125944
NM_032444.4(SLX4):c.2430C>T (p.Ser810=)
NM_032444.4(SLX4):c.2435C>T (p.Ala812Val)
NM_032444.4(SLX4):c.2436C>G (p.Ala812=) rs769330696
NM_032444.4(SLX4):c.2441A>G (p.Asn814Ser) rs777299783
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.2451A>C (p.Glu817Asp)
NM_032444.4(SLX4):c.2460G>A (p.Arg820=)
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.2481G>A (p.Glu827=) rs746049343
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.2535C>T (p.Asn845=) rs1174692641
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.255G>A (p.Gln85=)
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
NM_032444.4(SLX4):c.256A>T (p.Ile86Leu)
NM_032444.4(SLX4):c.2576C>G (p.Ala859Gly)
NM_032444.4(SLX4):c.2577T>C (p.Ala859=)
NM_032444.4(SLX4):c.2586A>G (p.Arg862=)
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del) rs536289991
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
NM_032444.4(SLX4):c.2616T>C (p.Gly872=)
NM_032444.4(SLX4):c.2619C>T (p.Ala873=)
NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg) rs113420526
NM_032444.4(SLX4):c.2621G>T (p.Gly874Val)
NM_032444.4(SLX4):c.2622C>G (p.Gly874=) rs1407514660
NM_032444.4(SLX4):c.2622C>T (p.Gly874=)
NM_032444.4(SLX4):c.2625G>A (p.Glu875=)
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter) rs2151125489
NM_032444.4(SLX4):c.2637G>C (p.Trp879Cys) rs1276786771
NM_032444.4(SLX4):c.264C>T (p.Ser88=)
NM_032444.4(SLX4):c.2650A>G (p.Ser884Gly)
NM_032444.4(SLX4):c.2666A>G (p.Gln889Arg)
NM_032444.4(SLX4):c.2670C>T (p.Leu890=)
NM_032444.4(SLX4):c.2675C>T (p.Ala892Val) rs1368217140
NM_032444.4(SLX4):c.2706G>A (p.Lys902=) rs764936885
NM_032444.4(SLX4):c.2706G>T (p.Lys902Asn)
NM_032444.4(SLX4):c.2709G>A (p.Val903=)
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.2730G>A (p.Glu910=)
NM_032444.4(SLX4):c.2731C>G (p.Pro911Ala) rs2151125280
NM_032444.4(SLX4):c.2736A>G (p.Gly912=) rs1162992846
NM_032444.4(SLX4):c.273A>G (p.Lys91=)
NM_032444.4(SLX4):c.2742T>C (p.Asp914=) rs1060504342
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.2748C>G (p.Ala916=)
NM_032444.4(SLX4):c.2748C>T (p.Ala916=) rs374815885
NM_032444.4(SLX4):c.2757C>A (p.Thr919=) rs2151125207
NM_032444.4(SLX4):c.2766G>T (p.Lys922Asn)
NM_032444.4(SLX4):c.2775G>A (p.Gln925=)
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.2793_2805del (p.Gln934fs)
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
NM_032444.4(SLX4):c.2808A>G (p.Ser936=) rs762090546
NM_032444.4(SLX4):c.2808A>T (p.Ser936=)
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.2820A>G (p.Gly940=) rs2151125020
NM_032444.4(SLX4):c.2821G>A (p.Ala941Thr)
NM_032444.4(SLX4):c.2825A>T (p.Glu942Val) rs2040579815
NM_032444.4(SLX4):c.2826G>A (p.Glu942=) rs2040579766
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_2855delinsAT (p.Ala952Met) rs863224277
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.2877C>T (p.Ser959=)
NM_032444.4(SLX4):c.2881C>A (p.Pro961Thr) rs2151124871
NM_032444.4(SLX4):c.289G>A (p.Ala97Thr) rs2040813930
NM_032444.4(SLX4):c.2901A>C (p.Ala967=)
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.2919T>C (p.Ser973=) rs2151124792
NM_032444.4(SLX4):c.2927A>G (p.His976Arg) rs141294497
NM_032444.4(SLX4):c.2943G>T (p.Gly981=)
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757
NM_032444.4(SLX4):c.2961C>T (p.Phe987=)
NM_032444.4(SLX4):c.2972A>G (p.Gln991Arg)
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs) rs2151124655
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.3018A>G (p.Glu1006=) rs1596522113
NM_032444.4(SLX4):c.3033C>T (p.Val1011=) rs867272668
NM_032444.4(SLX4):c.3034A>G (p.Arg1012Gly)
NM_032444.4(SLX4):c.3044G>A (p.Gly1015Glu) rs2151124497
NM_032444.4(SLX4):c.3045G>A (p.Gly1015=) rs1334575564
NM_032444.4(SLX4):c.3046C>T (p.Leu1016=) rs141412644
NM_032444.4(SLX4):c.3049G>A (p.Glu1017Lys)
NM_032444.4(SLX4):c.3051G>A (p.Glu1017=) rs1306302241
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.306C>G (p.Thr102=) rs752275926
NM_032444.4(SLX4):c.3073T>C (p.Trp1025Arg)
NM_032444.4(SLX4):c.3079G>T (p.Ala1027Ser)
NM_032444.4(SLX4):c.307del (p.Leu103fs)
NM_032444.4(SLX4):c.3081A>T (p.Ala1027=) rs2151124384
NM_032444.4(SLX4):c.3087A>G (p.Pro1029=)
NM_032444.4(SLX4):c.3090G>T (p.Pro1030=) rs771531829
NM_032444.4(SLX4):c.3101G>T (p.Arg1034Leu)
NM_032444.4(SLX4):c.3126C>T (p.Gly1042=)
NM_032444.4(SLX4):c.312A>C (p.Gln104His)
NM_032444.4(SLX4):c.3142T>A (p.Ser1048Thr)
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
NM_032444.4(SLX4):c.3157G>A (p.Gly1053Arg)
NM_032444.4(SLX4):c.3159G>C (p.Gly1053=) rs1344092780
NM_032444.4(SLX4):c.315C>T (p.Gly105=) rs558641534
NM_032444.4(SLX4):c.3161C>T (p.Ser1054Leu)
NM_032444.4(SLX4):c.3162G>C (p.Ser1054=) rs76488917
NM_032444.4(SLX4):c.3174A>G (p.Thr1058=) rs780024295
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.3180G>A (p.Arg1060=) rs747169328
NM_032444.4(SLX4):c.3180G>C (p.Arg1060=) rs747169328
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.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.3237A>G (p.Pro1079=)
NM_032444.4(SLX4):c.3237A>T (p.Pro1079=) rs145055283
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter) rs2151123968
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.3270G>A (p.Thr1090=)
NM_032444.4(SLX4):c.3282del (p.Glu1094fs) rs2151123906
NM_032444.4(SLX4):c.3306G>A (p.Glu1102=) rs2151123871
NM_032444.4(SLX4):c.3311G>A (p.Arg1104Gln)
NM_032444.4(SLX4):c.3313T>A (p.Ser1105Thr) rs2151123849
NM_032444.4(SLX4):c.3319C>T (p.Leu1107=)
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.3345G>A (p.Leu1115=) rs374238222
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.3360A>G (p.Lys1120=)
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.3366G>A (p.Pro1122=) rs752209638
NM_032444.4(SLX4):c.336G>T (p.Pro112=)
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.3399T>C (p.His1133=)
NM_032444.4(SLX4):c.33C>T (p.Gly11=) rs1274120704
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.3420A>G (p.Lys1140=)
NM_032444.4(SLX4):c.3423T>C (p.Ser1141=) rs1596521552
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.342C>G (p.Gly114=)
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.3441A>G (p.Glu1147=)
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.345C>T (p.Ser115=) rs1442020030
NM_032444.4(SLX4):c.3475G>A (p.Glu1159Lys)
NM_032444.4(SLX4):c.3477G>C (p.Glu1159Asp) rs1349173708
NM_032444.4(SLX4):c.3480G>A (p.Glu1160=)
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.3528G>A (p.Leu1176=)
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala) rs1264184614
NM_032444.4(SLX4):c.354T>C (p.Pro118=)
NM_032444.4(SLX4):c.3555C>T (p.Ser1185=)
NM_032444.4(SLX4):c.3561G>A (p.Arg1187=) rs2151123357
NM_032444.4(SLX4):c.3571C>T (p.Leu1191=)
NM_032444.4(SLX4):c.3573G>C (p.Leu1191=)
NM_032444.4(SLX4):c.3582C>A (p.Ile1194=)
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.3600T>C (p.Asp1200=)
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.3619_3643del (p.Pro1207fs) rs1440022090
NM_032444.4(SLX4):c.3623C>T (p.Pro1208Leu)
NM_032444.4(SLX4):c.3626G>A (p.Arg1209Lys)
NM_032444.4(SLX4):c.3630C>T (p.Ser1210=) rs1567169951
NM_032444.4(SLX4):c.363_365del (p.Lys122del) rs2151139354
NM_032444.4(SLX4):c.3640C>T (p.Leu1214=)
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
NM_032444.4(SLX4):c.3651G>A (p.Glu1217=)
NM_032444.4(SLX4):c.3658G>A (p.Gly1220Arg) rs1160985971
NM_032444.4(SLX4):c.3661_3662delinsTT (p.Ala1221Leu)
NM_032444.4(SLX4):c.3666G>A (p.Leu1222=) rs2151123132
NM_032444.4(SLX4):c.366G>A (p.Lys122=) rs149626570
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.3678G>C (p.Arg1226=)
NM_032444.4(SLX4):c.3681C>T (p.Gly1227=)
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.3711G>C (p.Leu1237=)
NM_032444.4(SLX4):c.3715T>C (p.Cys1239Arg) rs2151122998
NM_032444.4(SLX4):c.3720C>T (p.Asp1240=)
NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)
NM_032444.4(SLX4):c.3724G>A (p.Glu1242Lys)
NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter) rs770687847
NM_032444.4(SLX4):c.3726G>A (p.Glu1242=) rs2040561177
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.3727A>G (p.Ser1243Gly)
NM_032444.4(SLX4):c.3728G>A (p.Ser1243Asn)
NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
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.3768G>A (p.Leu1256=) rs757548615
NM_032444.4(SLX4):c.3773C>G (p.Pro1258Arg)
NM_032444.4(SLX4):c.3783G>T (p.Pro1261=) rs77699867
NM_032444.4(SLX4):c.3784C>G (p.Leu1262Val)
NM_032444.4(SLX4):c.3786G>A (p.Leu1262=) rs1555450110
NM_032444.4(SLX4):c.3807T>C (p.Cys1269=)
NM_032444.4(SLX4):c.380A>T (p.Lys127Ile)
NM_032444.4(SLX4):c.3825C>T (p.Ile1275=)
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.383G>A (p.Trp128Ter) rs1193906930
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.3849C>G (p.Ala1283=) rs200928592
NM_032444.4(SLX4):c.3849C>T (p.Ala1283=) rs200928592
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu) rs373107728
NM_032444.4(SLX4):c.3852G>A (p.Val1284=) rs2151122647
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.3900A>G (p.Glu1300=) rs1060504341
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.3906del (p.Asn1302fs)
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter) rs2040557100
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.3939C>G (p.Pro1313=)
NM_032444.4(SLX4):c.3939C>T (p.Pro1313=)
NM_032444.4(SLX4):c.3946C>A (p.Pro1316Thr)
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.3954C>G (p.Pro1318=)
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter) rs2040556390
NM_032444.4(SLX4):c.3958A>T (p.Thr1320Ser) rs1060501797
NM_032444.4(SLX4):c.3960A>G (p.Thr1320=)
NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
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.3983_4115del (p.Val1328fs) rs2151122078
NM_032444.4(SLX4):c.3990A>C (p.Pro1330=) rs2151122324
NM_032444.4(SLX4):c.399G>A (p.Pro133=)
NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
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.4011G>A (p.Arg1337=) rs1487018930
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.4024del (p.Ser1342fs)
NM_032444.4(SLX4):c.4036C>T (p.Pro1346Ser) rs2040554159
NM_032444.4(SLX4):c.4044C>T (p.Pro1348=) rs1332165366
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.4056G>T (p.Pro1352=)
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.4069C>T (p.Leu1357=)
NM_032444.4(SLX4):c.4075C>T (p.Pro1359Ser)
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.4098C>G (p.Arg1366=) rs770811758
NM_032444.4(SLX4):c.40T>C (p.Leu14=)
NM_032444.4(SLX4):c.4114C>T (p.Arg1372Trp)
NM_032444.4(SLX4):c.4122G>A (p.Leu1374=)
NM_032444.4(SLX4):c.4129T>G (p.Ser1377Ala)
NM_032444.4(SLX4):c.4130C>G (p.Ser1377Trp) rs770241338
NM_032444.4(SLX4):c.4133del (p.Pro1378fs) rs1174332682
NM_032444.4(SLX4):c.4135C>G (p.Pro1379Ala)
NM_032444.4(SLX4):c.414T>C (p.Asn138=) rs2151139252
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter) rs1374549534
NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)
NM_032444.4(SLX4):c.4162C>G (p.Pro1388Ala) rs1457147753
NM_032444.4(SLX4):c.4167G>A (p.Ala1389=) rs541433695
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.4191C>T (p.Asp1397=)
NM_032444.4(SLX4):c.4195G>T (p.Asp1399Tyr)
NM_032444.4(SLX4):c.4197C>G (p.Asp1399Glu) rs146079010
NM_032444.4(SLX4):c.4203G>A (p.Glu1401=)
NM_032444.4(SLX4):c.420G>A (p.Glu140=) rs753015235
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.423G>T (p.Gly141=) rs111405249
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.4251T>C (p.Ser1417=)
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.4258_4259dup (p.Ile1421fs) rs781663547
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs) rs781663547
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.4281C>T (p.Cys1427=) rs2151121647
NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter) rs1028935047
NM_032444.4(SLX4):c.4285C>T (p.His1429Tyr)
NM_032444.4(SLX4):c.4288A>G (p.Met1430Val)
NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
NM_032444.4(SLX4):c.4293G>A (p.Glu1431=) rs2151121628
NM_032444.4(SLX4):c.4295C>T (p.Pro1432Leu)
NM_032444.4(SLX4):c.4302G>A (p.Ser1434=) rs768311081
NM_032444.4(SLX4):c.4306A>G (p.Ile1436Val) rs2151121602
NM_032444.4(SLX4):c.4311C>G (p.Pro1437=)
NM_032444.4(SLX4):c.4314T>C (p.Ile1438=)
NM_032444.4(SLX4):c.4333C>G (p.Arg1445Gly) rs777967898
NM_032444.4(SLX4):c.4335G>A (p.Arg1445=) rs139377113
NM_032444.4(SLX4):c.4336A>G (p.Thr1446Ala) rs2040546349
NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
NM_032444.4(SLX4):c.4337C>G (p.Thr1446Ser)
NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn) rs765104618
NM_032444.4(SLX4):c.4362C>G (p.Pro1454=)
NM_032444.4(SLX4):c.4368C>T (p.Arg1456=)
NM_032444.4(SLX4):c.4371G>A (p.Arg1457=) rs745485209
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.4381_4391del (p.Ala1461fs) rs751653739
NM_032444.4(SLX4):c.4382C>T (p.Ala1461Val)
NM_032444.4(SLX4):c.4382CCG[1] (p.Ala1462del)
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.4404C>T (p.Arg1468=)
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.4428C>T (p.Thr1476=)
NM_032444.4(SLX4):c.4429C>G (p.Pro1477Ala)
NM_032444.4(SLX4):c.442C>T (p.Pro148Ser)
NM_032444.4(SLX4):c.4431C>G (p.Pro1477=)
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg) rs1307537720
NM_032444.4(SLX4):c.4451C>T (p.Thr1484Ile)
NM_032444.4(SLX4):c.4452C>G (p.Thr1484=)
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.4479G>C (p.Ser1493=)
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.4488C>T (p.Gly1496=) rs2151121109
NM_032444.4(SLX4):c.4504A>C (p.Arg1502=)
NM_032444.4(SLX4):c.4505G>A (p.Arg1502Lys)
NM_032444.4(SLX4):c.4508C>G (p.Pro1503Arg) rs370637700
NM_032444.4(SLX4):c.4509G>A (p.Pro1503=)
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>A (p.Ser1508Ter)
NM_032444.4(SLX4):c.4523C>G (p.Ser1508Trp)
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu) rs112694849
NM_032444.4(SLX4):c.4524G>T (p.Ser1508=) rs1423670990
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.4549G>T (p.Glu1517Ter)
NM_032444.4(SLX4):c.4554G>A (p.Glu1518=)
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.4560G>A (p.Arg1520=) rs2040541238
NM_032444.4(SLX4):c.456G>A (p.Val152=)
NM_032444.4(SLX4):c.4576C>T (p.Pro1526Ser)
NM_032444.4(SLX4):c.4586A>G (p.Gln1529Arg) rs2151120875
NM_032444.4(SLX4):c.4590G>T (p.Met1530Ile)
NM_032444.4(SLX4):c.4593A>C (p.Pro1531=) rs2151120865
NM_032444.4(SLX4):c.4596C>T (p.Ser1532=) rs527733303
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.4617C>G (p.Pro1539=)
NM_032444.4(SLX4):c.4617C>T (p.Pro1539=) rs545723462
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.4636+17G>A
NM_032444.4(SLX4):c.4636+20G>A
NM_032444.4(SLX4):c.4636A>G (p.Lys1546Glu)
NM_032444.4(SLX4):c.4644T>G (p.Ala1548=)
NM_032444.4(SLX4):c.4645A>T (p.Asn1549Tyr) rs2040490377
NM_032444.4(SLX4):c.4652A>G (p.Lys1551Arg)
NM_032444.4(SLX4):c.4668C>G (p.Pro1556=)
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
NM_032444.4(SLX4):c.4678A>G (p.Ile1560Val)
NM_032444.4(SLX4):c.467C>T (p.Thr156Ile) rs144614070
NM_032444.4(SLX4):c.4686G>A (p.Pro1562=) rs752013105
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
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.4713G>A (p.Thr1571=)
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.4728G>A (p.Lys1576=)
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+15A>G
NM_032444.4(SLX4):c.4739+6C>A rs770758859
NM_032444.4(SLX4):c.4740-13G>A rs1266530523
NM_032444.4(SLX4):c.4740-16C>T
NM_032444.4(SLX4):c.4740-18C>T
NM_032444.4(SLX4):c.4740-8T>A
NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)
NM_032444.4(SLX4):c.4749C>A (p.Val1583=)
NM_032444.4(SLX4):c.4760C>G (p.Pro1587Arg) rs2040468443
NM_032444.4(SLX4):c.4764del (p.Lys1588fs) rs1567166655
NM_032444.4(SLX4):c.476A>C (p.Asn159Thr)
NM_032444.4(SLX4):c.4774G>T (p.Val1592Phe)
NM_032444.4(SLX4):c.4783C>T (p.Leu1595=)
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.4798C>T (p.Gln1600Ter) rs143026968
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.4809C>T (p.His1603=)
NM_032444.4(SLX4):c.4811A>C (p.Gln1604Pro) rs2040467275
NM_032444.4(SLX4):c.4816C>T (p.Leu1606=)
NM_032444.4(SLX4):c.4818G>C (p.Leu1606=) rs2151117040
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
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.4837G>T (p.Glu1613Ter) rs761469284
NM_032444.4(SLX4):c.483G>A (p.Gln161=)
NM_032444.4(SLX4):c.4842C>G (p.Ser1614Arg) rs2151116971
NM_032444.4(SLX4):c.4845G>A (p.Gln1615=) rs988625732
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
NM_032444.4(SLX4):c.4860G>A (p.Leu1620=) rs1415687441
NM_032444.4(SLX4):c.4860G>T (p.Leu1620=)
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.4872T>G (p.Pro1624=)
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.4896G>A (p.Gln1632=)
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.4950A>G (p.Gly1650=)
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr) rs2151116711
NM_032444.4(SLX4):c.4962T>C (p.His1654=) rs1407754407
NM_032444.4(SLX4):c.4968C>T (p.Pro1656=)
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.4983G>A (p.Lys1661=) rs769196428
NM_032444.4(SLX4):c.4990G>A (p.Gly1664Ser)
NM_032444.4(SLX4):c.4992C>T (p.Gly1664=)
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.5049C>A (p.Thr1683=) rs1596515370
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs) rs2151116570
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.5076T>C (p.Asp1692=)
NM_032444.4(SLX4):c.5079C>T (p.Asp1693=)
NM_032444.4(SLX4):c.507G>A (p.Ser169=)
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.5085G>A (p.Gln1695=)
NM_032444.4(SLX4):c.5088C>T (p.Ile1696=) rs745883123
NM_032444.4(SLX4):c.5096C>G (p.Ser1699Cys) rs184699331
NM_032444.4(SLX4):c.5097T>C (p.Ser1699=) rs202099433
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs) rs1022072026
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.5109G>C (p.Val1703=)
NM_032444.4(SLX4):c.5110G>T (p.Ala1704Ser)
NM_032444.4(SLX4):c.5129G>A (p.Ser1710Asn) rs2151116448
NM_032444.4(SLX4):c.5139C>T (p.Ser1713=) rs748115513
NM_032444.4(SLX4):c.513C>T (p.Asn171=)
NM_032444.4(SLX4):c.5143A>G (p.Ser1715Gly) rs2151116429
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
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+16C>T
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.5154-13T>C
NM_032444.4(SLX4):c.5154-19C>T
NM_032444.4(SLX4):c.5154-4del rs2151116057
NM_032444.4(SLX4):c.5154-9T>A rs1372404016
NM_032444.4(SLX4):c.5154TTC[1] (p.Ser1721del) rs770121119
NM_032444.4(SLX4):c.5169G>A (p.Glu1723=) rs2151116036
NM_032444.4(SLX4):c.5171T>C (p.Phe1724Ser) rs2151116029
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
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.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.5216_5217dup (p.Val1740fs) rs2151115927
NM_032444.4(SLX4):c.5220C>T (p.Val1740=)
NM_032444.4(SLX4):c.5229G>C (p.Ser1743=)
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_032444.4(SLX4):c.5238C>T (p.Ala1746=)
NM_032444.4(SLX4):c.5239G>A (p.Val1747Met)
NM_032444.4(SLX4):c.5239G>T (p.Val1747Leu)
NM_032444.4(SLX4):c.5244G>A (p.Gln1748=) rs2151115866
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.5250G>A (p.Ala1750=) rs370495748
NM_032444.4(SLX4):c.5250G>C (p.Ala1750=)
NM_032444.4(SLX4):c.5257G>C (p.Asp1753His) rs981311587
NM_032444.4(SLX4):c.5262G>A (p.Glu1754=) rs1158728649
NM_032444.4(SLX4):c.5264C>G (p.Ala1755Gly)
NM_032444.4(SLX4):c.5271G>A (p.Arg1757=) rs761845224
NM_032444.4(SLX4):c.528A>C (p.Lys176Asn) rs778569160
NM_032444.4(SLX4):c.5292G>A (p.Pro1764=)
NM_032444.4(SLX4):c.5298G>C (p.Leu1766=)
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.5316G>A (p.Leu1772=)
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=) rs1596514559
NM_032444.4(SLX4):c.5325C>T (p.Pro1775=)
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+13C>T
NM_032444.4(SLX4):c.535+6T>G
NM_032444.4(SLX4):c.535+8G>T rs1438562094
NM_032444.4(SLX4):c.5352G>A (p.Glu1784=)
NM_032444.4(SLX4):c.5359C>G (p.Gln1787Glu) rs1259909923
NM_032444.4(SLX4):c.5359C>T (p.Gln1787Ter)
NM_032444.4(SLX4):c.536-11C>T rs988977923
NM_032444.4(SLX4):c.5364C>T (p.Asn1788=)
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile) rs2040449660
NM_032444.4(SLX4):c.5381C>T (p.Ser1794Leu)
NM_032444.4(SLX4):c.5389C>T (p.Leu1797=)
NM_032444.4(SLX4):c.5409C>A (p.Thr1803=)
NM_032444.4(SLX4):c.540T>C (p.Asn180=)
NM_032444.4(SLX4):c.5412C>T (p.His1804=)
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.5467C>A (p.Arg1823=) rs771230395
NM_032444.4(SLX4):c.5468G>A (p.Arg1823Gln)
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.5490G>A (p.Lys1830=)
NM_032444.4(SLX4):c.552C>T (p.Ser184=)
NM_032444.4(SLX4):c.553G>T (p.Asp185Tyr)
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter) rs2040788600
NM_032444.4(SLX4):c.55C>T (p.His19Tyr)
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.585A>G (p.Thr195=)
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.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.607C>A (p.Pro203Thr) rs2151137984
NM_032444.4(SLX4):c.60G>A (p.Leu20=) rs200430973
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly) rs79842542
NM_032444.4(SLX4):c.616G>A (p.Ala206Thr)
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
NM_032444.4(SLX4):c.628C>T (p.Leu210=) rs772125734
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.642G>A (p.Gln214=) rs2151137919
NM_032444.4(SLX4):c.645G>C (p.Gln215His) rs1449991903
NM_032444.4(SLX4):c.657A>C (p.Ala219=) rs899168599
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.663C>T (p.Pro221=)
NM_032444.4(SLX4):c.666G>A (p.Glu222=)
NM_032444.4(SLX4):c.66C>T (p.Ala22=) rs774837514
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.681T>G (p.Ala227=)
NM_032444.4(SLX4):c.690G>A (p.Glu230=)
NM_032444.4(SLX4):c.696C>A (p.Ser232=)
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.741G>A (p.Glu247=)
NM_032444.4(SLX4):c.742G>C (p.Glu248Gln)
NM_032444.4(SLX4):c.749T>C (p.Met250Thr)
NM_032444.4(SLX4):c.753G>T (p.Ala251=)
NM_032444.4(SLX4):c.760+12G>A rs2151137685
NM_032444.4(SLX4):c.760+18C>T
NM_032444.4(SLX4):c.760+19T>A
NM_032444.4(SLX4):c.760+5G>A rs1555452262
NM_032444.4(SLX4):c.760+8G>T rs746864879
NM_032444.4(SLX4):c.761-14G>A
NM_032444.4(SLX4):c.764A>G (p.Tyr255Cys)
NM_032444.4(SLX4):c.768G>T (p.Gly256=)
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.798T>C (p.Ala266=)
NM_032444.4(SLX4):c.805G>T (p.Ala269Ser)
NM_032444.4(SLX4):c.80A>T (p.Asp27Val) rs1567178445
NM_032444.4(SLX4):c.81C>T (p.Asp27=)
NM_032444.4(SLX4):c.822G>C (p.Gln274His) rs1367038373
NM_032444.4(SLX4):c.852T>C (p.His284=) rs770412592
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.86_89del (p.Arg29fs) rs2151139911
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.906C>T (p.Asn302=) rs1397863706
NM_032444.4(SLX4):c.908T>C (p.Leu303Pro)
NM_032444.4(SLX4):c.943G>A (p.Val315Met)
NM_032444.4(SLX4):c.950+11C>T
NM_032444.4(SLX4):c.950+17C>T
NM_032444.4(SLX4):c.950+18C>T
NM_032444.4(SLX4):c.950+3G>C
NM_032444.4(SLX4):c.951-11T>C
NM_032444.4(SLX4):c.951-12G>T rs1160882480
NM_032444.4(SLX4):c.951-13T>C
NM_032444.4(SLX4):c.951-16G>T rs2151134218
NM_032444.4(SLX4):c.951-1G>C
NM_032444.4(SLX4):c.951-20T>C
NM_032444.4(SLX4):c.951G>A (p.Arg317=) rs1338514538
NM_032444.4(SLX4):c.955T>C (p.Leu319=)
NM_032444.4(SLX4):c.956T>C (p.Leu319Ser) rs2151134190
NM_032444.4(SLX4):c.957G>A (p.Leu319=)
NM_032444.4(SLX4):c.966T>A (p.Ala322=)
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.996G>A (p.Gln332=)
NM_032444.4(SLX4):c.99C>G (p.Asp33Glu)
NM_032634.4(PIGO):c.1028T>C (p.Val343Ala) rs2131078846
NM_032634.4(PIGO):c.1035T>G (p.Ala345=) rs962272098
NM_032634.4(PIGO):c.1045T>G (p.Ser349Ala) rs1554673142
NM_032634.4(PIGO):c.1073C>T (p.Ser358Phe) rs376445701
NM_032634.4(PIGO):c.1079C>A (p.Ala360Asp)
NM_032634.4(PIGO):c.1086C>G (p.Ala362=)
NM_032634.4(PIGO):c.1094C>T (p.Ser365Leu) rs1262476458
NM_032634.4(PIGO):c.1095A>T (p.Ser365=) rs771034645
NM_032634.4(PIGO):c.1113T>C (p.Ala371=)
NM_032634.4(PIGO):c.1114C>T (p.Gln372Ter)
NM_032634.4(PIGO):c.1119+10C>T
NM_032634.4(PIGO):c.1120-12T>C
NM_032634.4(PIGO):c.1120-15C>T rs77344591
NM_032634.4(PIGO):c.1120-16A>C
NM_032634.4(PIGO):c.1120-17G>C
NM_032634.4(PIGO):c.1120-29_1120-9del
NM_032634.4(PIGO):c.1120-5G>C rs1829493650
NM_032634.4(PIGO):c.1120G>C (p.Val374Leu) rs1587168605
NM_032634.4(PIGO):c.1126C>T (p.Arg376Ter)
NM_032634.4(PIGO):c.1127G>C (p.Arg376Pro) rs768552303
NM_032634.4(PIGO):c.1127G>T (p.Arg376Leu) rs768552303
NM_032634.4(PIGO):c.1135C>T (p.His379Tyr) rs771838559
NM_032634.4(PIGO):c.1184del (p.Gln395fs)
NM_032634.4(PIGO):c.1187del (p.Leu396fs) rs1657564568
NM_032634.4(PIGO):c.1189C>T (p.Gln397Ter)
NM_032634.4(PIGO):c.119G>A (p.Ser40Asn)
NM_032634.4(PIGO):c.1213G>A (p.Ala405Thr)
NM_032634.4(PIGO):c.1225T>C (p.Trp409Arg) rs2131077871
NM_032634.4(PIGO):c.1233C>T (p.Leu411=)
NM_032634.4(PIGO):c.1236G>A (p.Gln412=)
NM_032634.4(PIGO):c.1241C>G (p.Pro414Arg) rs944789603
NM_032634.4(PIGO):c.1244A>G (p.Lys415Arg) rs1265730676
NM_032634.4(PIGO):c.1247G>A (p.Gly416Glu) rs774194698
NM_032634.4(PIGO):c.1257G>A (p.Ala419=)
NM_032634.4(PIGO):c.1261C>T (p.Leu421=)
NM_032634.4(PIGO):c.1266G>A (p.Pro422=) rs758742085
NM_032634.4(PIGO):c.1270G>A (p.Val424Met)
NM_032634.4(PIGO):c.1271_1272del (p.Val424fs) rs1563998317
NM_032634.4(PIGO):c.1281G>A (p.Glu427=) rs1829484190
NM_032634.4(PIGO):c.1297C>T (p.Arg433Trp)
NM_032634.4(PIGO):c.1316G>A (p.Cys439Tyr)
NM_032634.4(PIGO):c.1327T>C (p.Trp443Arg)
NM_032634.4(PIGO):c.1329G>A (p.Trp443Ter) rs2131077198
NM_032634.4(PIGO):c.1334G>A (p.Arg445His)
NM_032634.4(PIGO):c.1335T>A (p.Arg445=) rs2131077185
NM_032634.4(PIGO):c.1344G>C (p.Leu448=)
NM_032634.4(PIGO):c.1351A>G (p.Met451Val) rs1477371877
NM_032634.4(PIGO):c.1355C>G (p.Ala452Gly) rs767418527
NM_032634.4(PIGO):c.1356G>A (p.Ala452=) rs759532728
NM_032634.4(PIGO):c.1356G>T (p.Ala452=) rs759532728
NM_032634.4(PIGO):c.1359G>T (p.Gly453=) rs368706055
NM_032634.4(PIGO):c.135dup (p.Gly46fs) rs1287376106
NM_032634.4(PIGO):c.1361G>T (p.Gly454Val) rs751477063
NM_032634.4(PIGO):c.1361del (p.Gly454fs)
NM_032634.4(PIGO):c.1361dup (p.Thr455fs)
NM_032634.4(PIGO):c.1365T>G (p.Thr455=) rs2131077068
NM_032634.4(PIGO):c.1391T>G (p.Ile464Ser) rs982318294
NM_032634.4(PIGO):c.1396C>G (p.Leu466Val) rs1829476284
NM_032634.4(PIGO):c.1400T>C (p.Leu467Pro)
NM_032634.4(PIGO):c.1407_1421del (p.Gln470_Ser474del) rs756923468
NM_032634.4(PIGO):c.1421C>G (p.Ser474Cys) rs1829474910
NM_032634.4(PIGO):c.1424C>G (p.Pro475Arg) rs370166497
NM_032634.4(PIGO):c.1428C>T (p.Gly476=)
NM_032634.4(PIGO):c.1433C>T (p.Pro478Leu) rs1829474467
NM_032634.4(PIGO):c.1434A>T (p.Pro478=)
NM_032634.4(PIGO):c.1442C>G (p.Pro481Arg) rs1563997847
NM_032634.4(PIGO):c.1445_1449del (p.Leu482fs) rs1209271799
NM_032634.4(PIGO):c.148C>T (p.Leu50=)
NM_032634.4(PIGO):c.1493C>T (p.Ala498Val) rs139997527
NM_032634.4(PIGO):c.14C>T (p.Ser5Leu) rs1829634211
NM_032634.4(PIGO):c.1500C>A (p.Leu500=)
NM_032634.4(PIGO):c.1502T>A (p.Leu501Gln) rs1829470218
NM_032634.4(PIGO):c.1505G>A (p.Gly502Glu) rs1486039779
NM_032634.4(PIGO):c.1510A>G (p.Ile504Val) rs868736867
NM_032634.4(PIGO):c.1528C>G (p.Leu510Val)
NM_032634.4(PIGO):c.152C>T (p.Pro51Leu) rs1829626741
NM_032634.4(PIGO):c.153A>C (p.Pro51=) rs758429983
NM_032634.4(PIGO):c.1549del (p.Ala517fs) rs1587166550
NM_032634.4(PIGO):c.154T>C (p.Trp52Arg) rs1829626477
NM_032634.4(PIGO):c.1574T>A (p.Phe525Tyr) rs935550232
NM_032634.4(PIGO):c.1575T>C (p.Phe525=) rs2131076597
NM_032634.4(PIGO):c.1578G>T (p.Leu526=)
NM_032634.4(PIGO):c.1587C>T (p.Ala529=)
NM_032634.4(PIGO):c.1591G>A (p.Ala531Thr) rs1416430595
NM_032634.4(PIGO):c.159G>T (p.Gly53=) rs2131084364
NM_032634.4(PIGO):c.1615C>T (p.Leu539=)
NM_032634.4(PIGO):c.1638T>C (p.Pro546=)
NM_032634.4(PIGO):c.1647C>G (p.Val549=) rs2131076353
NM_032634.4(PIGO):c.1648C>T (p.Leu550=) rs2131076346
NM_032634.4(PIGO):c.1653A>G (p.Leu551=)
NM_032634.4(PIGO):c.1657C>T (p.Leu553=) rs1794940212
NM_032634.4(PIGO):c.1657CTG[1] (p.Leu554del)
NM_032634.4(PIGO):c.1666C>T (p.Arg556Cys) rs754771826
NM_032634.4(PIGO):c.1667G>A (p.Arg556His)
NM_032634.4(PIGO):c.1667G>T (p.Arg556Leu)
NM_032634.4(PIGO):c.1673C>T (p.Ala558Val) rs544432298
NM_032634.4(PIGO):c.1674T>C (p.Ala558=)
NM_032634.4(PIGO):c.1686T>C (p.Ser562=)
NM_032634.4(PIGO):c.1701A>G (p.Val567=)
NM_032634.4(PIGO):c.1703C>T (p.Ala568Val)
NM_032634.4(PIGO):c.1707G>C (p.Glu569Asp) rs752287920
NM_032634.4(PIGO):c.1719C>T (p.Thr573=) rs2131076194
NM_032634.4(PIGO):c.1722C>T (p.Pro574=)
NM_032634.4(PIGO):c.1729T>C (p.Leu577=) rs2131076165
NM_032634.4(PIGO):c.1730T>C (p.Leu577Ser) rs1396494796
NM_032634.4(PIGO):c.1740C>T (p.Phe580=)
NM_032634.4(PIGO):c.1741A>G (p.Ile581Val) rs1390829462
NM_032634.4(PIGO):c.1747C>T (p.Leu583Phe) rs778946017
NM_032634.4(PIGO):c.1751T>C (p.Leu584Pro) rs1829452882
NM_032634.4(PIGO):c.1758C>G (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1758C>T (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1761G>A (p.Gln587=) rs1587165620
NM_032634.4(PIGO):c.1789C>A (p.Pro597Thr) rs1829451050
NM_032634.4(PIGO):c.178del (p.Ala60fs) rs1378962389
NM_032634.4(PIGO):c.1801A>G (p.Thr601Ala) rs2131075982
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.1817G>A (p.Gly606Asp)
NM_032634.4(PIGO):c.1820C>A (p.Thr607Asn) rs1829449172
NM_032634.4(PIGO):c.1821T>G (p.Thr607=)
NM_032634.4(PIGO):c.1824A>C (p.Ser608=)
NM_032634.4(PIGO):c.1837C>A (p.Pro613Thr)
NM_032634.4(PIGO):c.1840C>T (p.Pro614Ser) rs2131075851
NM_032634.4(PIGO):c.1841C>G (p.Pro614Arg) rs749184960
NM_032634.4(PIGO):c.1847A>C (p.His616Pro)
NM_032634.4(PIGO):c.1857A>G (p.Ala619=) rs1278167055
NM_032634.4(PIGO):c.1861G>T (p.Ala621Ser)
NM_032634.4(PIGO):c.1862C>G (p.Ala621Gly)
NM_032634.4(PIGO):c.1887T>C (p.Leu629=)
NM_032634.4(PIGO):c.1907G>A (p.Gly636Glu)
NM_032634.4(PIGO):c.1919G>A (p.Arg640His) rs918368312
NM_032634.4(PIGO):c.1919G>T (p.Arg640Leu) rs918368312
NM_032634.4(PIGO):c.1923C>A (p.Cys641Ter)
NM_032634.4(PIGO):c.1927G>A (p.Glu643Lys) rs369499442
NM_032634.4(PIGO):c.1930G>A (p.Glu644Lys)
NM_032634.4(PIGO):c.1930G>C (p.Glu644Gln) rs1237579146
NM_032634.4(PIGO):c.1932G>A (p.Glu644=)
NM_032634.4(PIGO):c.1936C>T (p.Pro646Ser) rs1829443313
NM_032634.4(PIGO):c.193T>A (p.Ser65Thr) rs2131084267
NM_032634.4(PIGO):c.1942del (p.Cys648fs) rs2131075608
NM_032634.4(PIGO):c.1949C>T (p.Ser650Phe) rs1587164764
NM_032634.4(PIGO):c.1952C>T (p.Ser651Phe) rs1441207104
NM_032634.4(PIGO):c.1959G>A (p.Trp653Ter) rs1391418639
NM_032634.4(PIGO):c.1960C>G (p.Leu654Val) rs766400679
NM_032634.4(PIGO):c.1966C>T (p.Pro656Ser)
NM_032634.4(PIGO):c.196C>T (p.Arg66Ter) rs763992668
NM_032634.4(PIGO):c.1982T>C (p.Val661Ala)
NM_032634.4(PIGO):c.1982T>G (p.Val661Gly) rs769720030
NM_032634.4(PIGO):c.1991G>C (p.Arg664Pro) rs371923881
NM_032634.4(PIGO):c.2003T>G (p.Leu668Trp) rs746676621
NM_032634.4(PIGO):c.2007G>A (p.Trp669Ter) rs1563996824
NM_032634.4(PIGO):c.2018G>C (p.Cys673Ser) rs1829439353
NM_032634.4(PIGO):c.2025G>T (p.Ala675=)
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_032634.4(PIGO):c.2027C>T (p.Ala676Val)
NM_032634.4(PIGO):c.2028G>A (p.Ala676=)
NM_032634.4(PIGO):c.2030T>G (p.Leu677Arg) rs1587164392
NM_032634.4(PIGO):c.2038C>T (p.Leu680=) rs2131075299
NM_032634.4(PIGO):c.2040G>A (p.Leu680=) rs41274877
NM_032634.4(PIGO):c.2048C>T (p.Ala683Val) rs1436127368
NM_032634.4(PIGO):c.204G>A (p.Ser68=)
NM_032634.4(PIGO):c.204dup (p.Arg69fs) rs751086453
NM_032634.4(PIGO):c.2054G>A (p.Arg685His) rs537260013
NM_032634.4(PIGO):c.2054_2055delinsTT (p.Arg685Leu) rs1829436323
NM_032634.4(PIGO):c.2066G>C (p.Arg689Pro) rs771748735
NM_032634.4(PIGO):c.2068C>T (p.Arg690Cys)
NM_032634.4(PIGO):c.2070C>T (p.Arg690=) rs770497870
NM_032634.4(PIGO):c.2075G>A (p.Gly692Asp) rs1829434904
NM_032634.4(PIGO):c.2084_2086del (p.Lys695del) rs1436537334
NM_032634.4(PIGO):c.2106C>G (p.Leu702=) rs1829433013
NM_032634.4(PIGO):c.2106C>T (p.Leu702=)
NM_032634.4(PIGO):c.210T>C (p.Val70=) rs1829622496
NM_032634.4(PIGO):c.2114G>C (p.Arg705Pro) rs761836966
NM_032634.4(PIGO):c.2117G>A (p.Trp706Ter)
NM_032634.4(PIGO):c.211G>A (p.Val71Met) rs540103270
NM_032634.4(PIGO):c.2132T>C (p.Met711Thr) rs2131074970
NM_032634.4(PIGO):c.2144C>A (p.Thr715Asn)
NM_032634.4(PIGO):c.2158G>A (p.Ala720Thr) rs1829430826
NM_032634.4(PIGO):c.2165C>T (p.Ala722Val) rs895003968
NM_032634.4(PIGO):c.2169G>T (p.Ser723=) rs780502790
NM_032634.4(PIGO):c.2176G>A (p.Asp726Asn) rs1306054354
NM_032634.4(PIGO):c.2182G>C (p.Ala728Pro) rs1221803789
NM_032634.4(PIGO):c.2182G>T (p.Ala728Ser) rs1221803789
NM_032634.4(PIGO):c.2185C>A (p.Pro729Thr) rs925153680
NM_032634.4(PIGO):c.2188C>T (p.Pro730Ser) rs747418653
NM_032634.4(PIGO):c.2189C>A (p.Pro730His) rs561174794
NM_032634.4(PIGO):c.2189C>G (p.Pro730Arg)
NM_032634.4(PIGO):c.2189C>T (p.Pro730Leu) rs561174794
NM_032634.4(PIGO):c.2191del (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2192G>A (p.Arg731His) rs946030670
NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu)
NM_032634.4(PIGO):c.2193T>G (p.Arg731=)
NM_032634.4(PIGO):c.2197C>G (p.Arg733Gly) rs748093757
NM_032634.4(PIGO):c.219G>A (p.Val73=)
NM_032634.4(PIGO):c.2205G>C (p.Leu735=) rs565127635
NM_032634.4(PIGO):c.2217del (p.Ser740fs)
NM_032634.4(PIGO):c.221T>C (p.Leu74Pro) rs1829622098
NM_032634.4(PIGO):c.2220C>G (p.Ser740=) rs752508027
NM_032634.4(PIGO):c.2222T>C (p.Met741Thr)
NM_032634.4(PIGO):c.2245G>A (p.Gly749Arg) rs1829424417
NM_032634.4(PIGO):c.2252C>T (p.Ala751Val) rs1461400949
NM_032634.4(PIGO):c.2257T>A (p.Ser753Thr) rs2131074572
NM_032634.4(PIGO):c.2257del (p.Ser753fs) rs2131074579
NM_032634.4(PIGO):c.2258C>T (p.Ser753Leu) rs1473159434
NM_032634.4(PIGO):c.2261G>A (p.Gly754Glu) rs1424475122
NM_032634.4(PIGO):c.2261G>C (p.Gly754Ala) rs1424475122
NM_032634.4(PIGO):c.2265C>T (p.Leu755=) rs746204138
NM_032634.4(PIGO):c.226G>A (p.Asp76Asn) rs1829621859
NM_032634.4(PIGO):c.2273T>C (p.Leu758Pro) rs1332591691
NM_032634.4(PIGO):c.2281A>C (p.Lys761Gln) rs2131074474
NM_032634.4(PIGO):c.2284C>G (p.Pro762Ala) rs752700560
NM_032634.4(PIGO):c.2289G>A (p.Val763=) rs751387350
NM_032634.4(PIGO):c.2299G>T (p.Val767Leu) rs1237902622
NM_032634.4(PIGO):c.2307T>C (p.Ala769=) rs1829420389
NM_032634.4(PIGO):c.2308G>A (p.Gly770Arg) rs2131074356
NM_032634.4(PIGO):c.2309G>C (p.Gly770Ala)
NM_032634.4(PIGO):c.230C>T (p.Ala77Val) rs1489992993
NM_032634.4(PIGO):c.2315G>A (p.Gly772Asp) rs2131074331
NM_032634.4(PIGO):c.2325G>A (p.Arg775=)
NM_032634.4(PIGO):c.2325G>T (p.Arg775Ser) rs367815008
NM_032634.4(PIGO):c.2326A>G (p.Thr776Ala) rs1829419277
NM_032634.4(PIGO):c.2331G>A (p.Arg777=)
NM_032634.4(PIGO):c.2340C>T (p.Leu780=) rs1437561417
NM_032634.4(PIGO):c.2345C>T (p.Pro782Leu)
NM_032634.4(PIGO):c.2352A>G (p.Ser784=) rs1013303269
NM_032634.4(PIGO):c.2360_2363del (p.Pro787fs) rs2131074060
NM_032634.4(PIGO):c.2361C>A (p.Pro787=) rs144233446
NM_032634.4(PIGO):c.2361C>T (p.Pro787=) rs144233446
NM_032634.4(PIGO):c.2361dup (p.Thr788fs) rs770591449
NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn) rs1390807512
NM_032634.4(PIGO):c.2364T>C (p.Thr788=)
NM_032634.4(PIGO):c.2364T>G (p.Thr788=) rs571101716
NM_032634.4(PIGO):c.2368C>T (p.Gln790Ter)
NM_032634.4(PIGO):c.2370A>G (p.Gln790=)
NM_032634.4(PIGO):c.2371G>A (p.Ala791Thr)
NM_032634.4(PIGO):c.2379G>A (p.Leu793=)
NM_032634.4(PIGO):c.2380G>A (p.Asp794Asn) rs1394125837
NM_032634.4(PIGO):c.23T>C (p.Leu8Pro) rs755191263
NM_032634.4(PIGO):c.2400C>A (p.Ile800=)
NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter) rs1199247059
NM_032634.4(PIGO):c.2406A>G (p.Arg802=) rs2131073918
NM_032634.4(PIGO):c.240T>C (p.Phe80=)
NM_032634.4(PIGO):c.2413C>T (p.Gln805Ter)
NM_032634.4(PIGO):c.2414A>G (p.Gln805Arg) rs1829412566
NM_032634.4(PIGO):c.2426G>A (p.Arg809Gln)
NM_032634.4(PIGO):c.2431C>G (p.Arg811Gly) rs140470862
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter) rs746967719
NM_032634.4(PIGO):c.2442_2457del (p.Arg814fs)
NM_032634.4(PIGO):c.2447A>C (p.Lys816Thr)
NM_032634.4(PIGO):c.2448A>G (p.Lys816=)
NM_032634.4(PIGO):c.244T>G (p.Phe82Val)
NM_032634.4(PIGO):c.246C>T (p.Phe82=) rs748671184
NM_032634.4(PIGO):c.2470G>A (p.Ala824Thr) rs1452787176
NM_032634.4(PIGO):c.2471C>G (p.Ala824Gly) rs1248760414
NM_032634.4(PIGO):c.247G>A (p.Ala83Thr) rs1171298718
NM_032634.4(PIGO):c.2488A>G (p.Ser830Gly) rs1201442869
NM_032634.4(PIGO):c.2499A>G (p.Ser833=)
NM_032634.4(PIGO):c.2499A>T (p.Ser833=) rs2131073558
NM_032634.4(PIGO):c.2520C>T (p.Leu840=) rs537796918
NM_032634.4(PIGO):c.2524C>T (p.Leu842=) rs1381492177
NM_032634.4(PIGO):c.252G>C (p.Gln84His) rs1829620198
NM_032634.4(PIGO):c.253C>G (p.Pro85Ala) rs745754359
NM_032634.4(PIGO):c.2553T>C (p.His851=) rs776946348
NM_032634.4(PIGO):c.2555_2572del (p.Ala852_Leu857del) rs1829403799
NM_032634.4(PIGO):c.2560C>T (p.Arg854Cys)
NM_032634.4(PIGO):c.2563A>G (p.Ile855Val)
NM_032634.4(PIGO):c.2564T>C (p.Ile855Thr)
NM_032634.4(PIGO):c.2574G>A (p.Val858=)
NM_032634.4(PIGO):c.2598C>T (p.Ser866=) rs2131073379
NM_032634.4(PIGO):c.259C>T (p.His87Tyr) rs1014636057
NM_032634.4(PIGO):c.2602_2605del (p.Leu868fs) rs2131073372
NM_032634.4(PIGO):c.2607C>T (p.Leu869=) rs1587161703
NM_032634.4(PIGO):c.2607_2609del (p.Leu870del) rs1829402902
NM_032634.4(PIGO):c.2616G>C (p.Leu872=)
NM_032634.4(PIGO):c.2627G>A (p.Gly876Glu) rs1057524330
NM_032634.4(PIGO):c.2647+14C>T
NM_032634.4(PIGO):c.2647+15T>C
NM_032634.4(PIGO):c.2647+7A>T rs763374350
NM_032634.4(PIGO):c.2648-16A>G
NM_032634.4(PIGO):c.2648-7C>T
NM_032634.4(PIGO):c.2649T>C (p.Gly883=)
NM_032634.4(PIGO):c.2670G>T (p.Gln890His) rs2131072103
NM_032634.4(PIGO):c.267C>T (p.His89=) rs781454559
NM_032634.4(PIGO):c.2682T>C (p.Ala894=)
NM_032634.4(PIGO):c.2693T>C (p.Met898Thr) rs1829374920
NM_032634.4(PIGO):c.2700A>C (p.Thr900=) rs749138418
NM_032634.4(PIGO):c.2707T>G (p.Phe903Val) rs1009399563
NM_032634.4(PIGO):c.2708_2710del (p.Phe903del)
NM_032634.4(PIGO):c.2711_2713del (p.Tyr904del)
NM_032634.4(PIGO):c.2725C>T (p.Gln909Ter) rs1829372756
NM_032634.4(PIGO):c.2731G>A (p.Val911Ile) rs779624264
NM_032634.4(PIGO):c.2741C>T (p.Ala914Val)
NM_032634.4(PIGO):c.2743A>G (p.Ile915Val) rs1554672147
NM_032634.4(PIGO):c.2779G>A (p.Gly927Ser) rs1444732315
NM_032634.4(PIGO):c.2784T>C (p.His928=)
NM_032634.4(PIGO):c.279G>A (p.Glu93=) rs1192285768
NM_032634.4(PIGO):c.2815G>C (p.Val939Leu) rs2131071645
NM_032634.4(PIGO):c.2818G>A (p.Gly940Arg) rs900520761
NM_032634.4(PIGO):c.2832T>C (p.Phe944=)
NM_032634.4(PIGO):c.2833G>T (p.Ala945Ser)
NM_032634.4(PIGO):c.283C>T (p.Pro95Ser)
NM_032634.4(PIGO):c.2842CTC[1] (p.Leu949del)
NM_032634.4(PIGO):c.2845C>G (p.Leu949Val) rs2131071575
NM_032634.4(PIGO):c.2851G>T (p.Ala951Ser) rs1243487347
NM_032634.4(PIGO):c.2854+19C>T
NM_032634.4(PIGO):c.2854+7C>G rs768338180
NM_032634.4(PIGO):c.2854+8del rs756312077
NM_032634.4(PIGO):c.2855-17_2855-16dup
NM_032634.4(PIGO):c.2855-19A>G rs1829357503
NM_032634.4(PIGO):c.2855-20C>T
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032634.4(PIGO):c.2871C>T (p.Leu957=) rs760439971
NM_032634.4(PIGO):c.2872C>A (p.Leu958Met) rs991755076
NM_032634.4(PIGO):c.2881C>T (p.Pro961Ser) rs771759492
NM_032634.4(PIGO):c.2886C>G (p.Phe962Leu)
NM_032634.4(PIGO):c.2889G>A (p.Leu963=) rs959471469
NM_032634.4(PIGO):c.2890T>C (p.Cys964Arg) rs1829353889
NM_032634.4(PIGO):c.2895G>A (p.Glu965=)
NM_032634.4(PIGO):c.28C>T (p.Leu10=) rs2131084852
NM_032634.4(PIGO):c.28del (p.Leu10fs)
NM_032634.4(PIGO):c.2901A>G (p.Gln967=)
NM_032634.4(PIGO):c.2912A>G (p.Lys971Arg) rs1829352416
NM_032634.4(PIGO):c.2921del (p.Gln974fs) rs1829352034
NM_032634.4(PIGO):c.2930G>A (p.Gly977Glu) rs1587158391
NM_032634.4(PIGO):c.2934T>G (p.Asn978Lys) rs780217709
NM_032634.4(PIGO):c.2943T>A (p.Asp981Glu) rs1829350572
NM_032634.4(PIGO):c.2944G>A (p.Ala982Thr) rs1183627091
NM_032634.4(PIGO):c.2945C>T (p.Ala982Val)
NM_032634.4(PIGO):c.2947A>G (p.Arg983Gly)
NM_032634.4(PIGO):c.2953A>T (p.Arg985Ter)
NM_032634.4(PIGO):c.2957C>A (p.Pro986His) rs1255026795
NM_032634.4(PIGO):c.2958C>T (p.Pro986=) rs368361555
NM_032634.4(PIGO):c.2959G>A (p.Glu987Lys) rs550176742
NM_032634.4(PIGO):c.2967A>G (p.Glu989=)
NM_032634.4(PIGO):c.2979G>A (p.Leu993=) rs1554672011
NM_032634.4(PIGO):c.297C>T (p.Pro99=)
NM_032634.4(PIGO):c.2988G>C (p.Met996Ile) rs759177338
NM_032634.4(PIGO):c.298T>C (p.Phe100Leu) rs1564002038
NM_032634.4(PIGO):c.298T>G (p.Phe100Val) rs1564002038
NM_032634.4(PIGO):c.2990G>T (p.Arg997Leu) rs770280569
NM_032634.4(PIGO):c.2991G>C (p.Arg997=)
NM_032634.4(PIGO):c.299T>C (p.Phe100Ser)
NM_032634.4(PIGO):c.3002C>A (p.Ala1001Glu)
NM_032634.4(PIGO):c.3003G>A (p.Ala1001=) rs1367586941
NM_032634.4(PIGO):c.3020C>G (p.Ala1007Gly)
NM_032634.4(PIGO):c.3038G>T (p.Gly1013Val) rs1829343312
NM_032634.4(PIGO):c.3048C>T (p.Tyr1016=) rs1587157717
NM_032634.4(PIGO):c.3066T>A (p.Ile1022=)
NM_032634.4(PIGO):c.3067C>T (p.Gln1023Ter)
NM_032634.4(PIGO):c.3069+2T>C rs1064795758
NM_032634.4(PIGO):c.3070-12C>T
NM_032634.4(PIGO):c.3070-12CTC[2] rs1462457627
NM_032634.4(PIGO):c.3070-14_3070-12del rs2131069422
NM_032634.4(PIGO):c.3073C>T (p.Leu1025=)
NM_032634.4(PIGO):c.3078C>T (p.Ala1026=) rs2131069378
NM_032634.4(PIGO):c.3086T>C (p.Leu1029Ser) rs1829316706
NM_032634.4(PIGO):c.3098T>C (p.Ile1033Thr) rs1587155838
NM_032634.4(PIGO):c.3099C>G (p.Ile1033Met) rs1587155827
NM_032634.4(PIGO):c.3099C>T (p.Ile1033=)
NM_032634.4(PIGO):c.309del (p.Lys103fs)
NM_032634.4(PIGO):c.3104G>T (p.Arg1035Leu) rs763001837
NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys) rs764658486
NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe)
NM_032634.4(PIGO):c.3126A>G (p.Lys1042=)
NM_032634.4(PIGO):c.3138del (p.Lys1047fs)
NM_032634.4(PIGO):c.3140+11T>A
NM_032634.4(PIGO):c.3141-19T>G
NM_032634.4(PIGO):c.3141-9T>A rs374227554
NM_032634.4(PIGO):c.3141-9T>C rs374227554
NM_032634.4(PIGO):c.3141-9T>G
NM_032634.4(PIGO):c.3154_3155delinsTT (p.Ala1052Phe) rs1829305473
NM_032634.4(PIGO):c.3167T>G (p.Ile1056Ser) rs1563992694
NM_032634.4(PIGO):c.3174C>T (p.Ser1058=) rs1587155037
NM_032634.4(PIGO):c.3178G>C (p.Val1060Leu)
NM_032634.4(PIGO):c.317C>T (p.Ser106Phe) rs1346782397
NM_032634.4(PIGO):c.3198A>T (p.Ile1066=)
NM_032634.4(PIGO):c.3199G>C (p.Ala1067Pro)
NM_032634.4(PIGO):c.3207G>A (p.Val1069=) rs2131068725
NM_032634.4(PIGO):c.3212G>A (p.Arg1071Lys) rs1829302818
NM_032634.4(PIGO):c.3216G>T (p.Val1072=)
NM_032634.4(PIGO):c.3219T>C (p.Asp1073=)
NM_032634.4(PIGO):c.322C>T (p.Gln108Ter)
NM_032634.4(PIGO):c.3231C>T (p.Ser1077=) rs766677182
NM_032634.4(PIGO):c.3233C>G (p.Ser1078Cys)
NM_032634.4(PIGO):c.3253C>A (p.Leu1085Met) rs1829299184
NM_032634.4(PIGO):c.3259C>T (p.Gln1087Ter) rs768738759
NM_032634.4(PIGO):c.3261_3262delinsAG (p.Gln1088Glu)
NM_032634.4(PIGO):c.3262C>G (p.Gln1088Glu) rs771799139
NM_032634.4(PIGO):c.3267G>A (p.Arg1089=) rs771354621
NM_032634.4(PIGO):c.327_336del (p.Ile110fs)
NM_032634.4(PIGO):c.350A>G (p.His117Arg)
NM_032634.4(PIGO):c.355C>T (p.Arg119Trp)
NM_032634.4(PIGO):c.361T>A (p.Tyr121Asn) rs2131083704
NM_032634.4(PIGO):c.366A>G (p.Arg122=)
NM_032634.4(PIGO):c.36G>A (p.Trp12Ter)
NM_032634.4(PIGO):c.370C>G (p.Gln124Glu)
NM_032634.4(PIGO):c.387C>A (p.Thr129=) rs765968784
NM_032634.4(PIGO):c.390C>G (p.Thr130=)
NM_032634.4(PIGO):c.399G>A (p.Gln133=) rs1829608764
NM_032634.4(PIGO):c.412C>T (p.Leu138Phe) rs1057518551
NM_032634.4(PIGO):c.414C>T (p.Leu138=)
NM_032634.4(PIGO):c.417C>A (p.Thr139=) rs1829607462
NM_032634.4(PIGO):c.418A>G (p.Thr140Ala) rs1564001736
NM_032634.4(PIGO):c.420T>G (p.Thr140=)
NM_032634.4(PIGO):c.433A>G (p.Thr145Ala) rs1038361434
NM_032634.4(PIGO):c.437T>G (p.Phe146Cys) rs2131083426
NM_032634.4(PIGO):c.438del (p.Phe146fs) rs1587176440
NM_032634.4(PIGO):c.445dup (p.Ala149fs)
NM_032634.4(PIGO):c.452G>A (p.Ser151Asn) rs771252279
NM_032634.4(PIGO):c.470C>T (p.Ala157Val) rs764817207
NM_032634.4(PIGO):c.485A>G (p.Asn162Ser) rs1480805750
NM_032634.4(PIGO):c.511+7G>A
NM_032634.4(PIGO):c.511_511+1delinsTT
NM_032634.4(PIGO):c.512-17C>T rs2240116
NM_032634.4(PIGO):c.512-3C>A rs2131081917
NM_032634.4(PIGO):c.512-5T>A
NM_032634.4(PIGO):c.513A>G (p.Gly171=) rs2131081904
NM_032634.4(PIGO):c.517C>T (p.Arg173Cys)
NM_032634.4(PIGO):c.523G>T (p.Val175Phe) rs1829572491
NM_032634.4(PIGO):c.530T>C (p.Met177Thr) rs1829572371
NM_032634.4(PIGO):c.534A>G (p.Gly178=)
NM_032634.4(PIGO):c.540T>A (p.Asp180Glu) rs776571289
NM_032634.4(PIGO):c.558C>T (p.Phe186=) rs2131081766
NM_032634.4(PIGO):c.55G>T (p.Ala19Ser) rs765218861
NM_032634.4(PIGO):c.565G>T (p.Ala189Ser) rs746960142
NM_032634.4(PIGO):c.56C>T (p.Ala19Val) rs1554673856
NM_032634.4(PIGO):c.572C>T (p.Ser191Phe) rs779897930
NM_032634.4(PIGO):c.583T>C (p.Phe195Leu) rs1421287635
NM_032634.4(PIGO):c.588C>G (p.Phe196Leu)
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.591A>T (p.Pro197=) rs1564000769
NM_032634.4(PIGO):c.613G>A (p.Asp205Asn)
NM_032634.4(PIGO):c.615C>T (p.Asp205=) rs763427139
NM_032634.4(PIGO):c.617C>T (p.Thr206Ile)
NM_032634.4(PIGO):c.628G>A (p.Gly210Ser)
NM_032634.4(PIGO):c.629G>A (p.Gly210Asp) rs2131081522
NM_032634.4(PIGO):c.636G>C (p.Leu212=)
NM_032634.4(PIGO):c.63T>G (p.Ile21Met) rs776535706
NM_032634.4(PIGO):c.655+1G>A
NM_032634.4(PIGO):c.655+4A>T
NM_032634.4(PIGO):c.655+7A>G rs118002220
NM_032634.4(PIGO):c.656-10C>T rs2131081122
NM_032634.4(PIGO):c.656-16G>T
NM_032634.4(PIGO):c.656-9C>T
NM_032634.4(PIGO):c.672G>T (p.Trp224Cys) rs760792660
NM_032634.4(PIGO):c.679C>G (p.Leu227Val)
NM_032634.4(PIGO):c.67C>T (p.Leu23Phe) rs1396810510
NM_032634.4(PIGO):c.681G>A (p.Leu227=) rs1169009367
NM_032634.4(PIGO):c.681G>C (p.Leu227=) rs1169009367
NM_032634.4(PIGO):c.687T>C (p.Ala229=) rs375778167
NM_032634.4(PIGO):c.696G>T (p.Leu232=)
NM_032634.4(PIGO):c.714C>G (p.Gly238=) rs148186264
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_032634.4(PIGO):c.715C>T (p.His239Tyr) rs1273593671
NM_032634.4(PIGO):c.728C>T (p.Pro243Leu) rs1829553189
NM_032634.4(PIGO):c.737C>G (p.Pro246Arg) rs746364157
NM_032634.4(PIGO):c.737C>T (p.Pro246Leu)
NM_032634.4(PIGO):c.764T>C (p.Met255Thr) rs1829550983
NM_032634.4(PIGO):c.765G>T (p.Met255Ile) rs1829550863
NM_032634.4(PIGO):c.779+12G>A
NM_032634.4(PIGO):c.779+17G>T
NM_032634.4(PIGO):c.779A>G (p.Gln260Arg)
NM_032634.4(PIGO):c.780-6C>A
NM_032634.4(PIGO):c.781G>A (p.Gly261Arg)
NM_032634.4(PIGO):c.787G>A (p.Val263Met) rs1829535554
NM_032634.4(PIGO):c.79G>A (p.Gly27Ser) rs1829630935
NM_032634.4(PIGO):c.829G>C (p.Asp277His) rs1265192200
NM_032634.4(PIGO):c.838A>T (p.Met280Leu) rs755227595
NM_032634.4(PIGO):c.856C>A (p.His286Asn) rs1587171258
NM_032634.4(PIGO):c.866A>G (p.Asp289Gly)
NM_032634.4(PIGO):c.879G>A (p.Glu293=) rs753637423
NM_032634.4(PIGO):c.888T>C (p.Ala296=) rs2131079797
NM_032634.4(PIGO):c.894_895del (p.Phe299fs)
NM_032634.4(PIGO):c.899T>A (p.Leu300Gln)
NM_032634.4(PIGO):c.908C>G (p.Pro303Arg) rs1587170972
NM_032634.4(PIGO):c.91dup (p.Thr31fs) rs1587178357
NM_032634.4(PIGO):c.927C>T (p.Ser309=)
NM_032634.4(PIGO):c.929C>A (p.Thr310Asn) rs770257536
NM_032634.4(PIGO):c.936A>G (p.Pro312=) rs148844555
NM_032634.4(PIGO):c.939+15G>A
NM_032634.4(PIGO):c.939+15G>T
NM_032634.4(PIGO):c.939+17T>G
NM_032634.4(PIGO):c.940-15G>A
NM_032634.4(PIGO):c.940-18A>G
NM_032634.4(PIGO):c.942G>T (p.Glu314Asp) rs764488316
NM_032634.4(PIGO):c.946G>A (p.Glu316Lys) rs377198873
NM_032634.4(PIGO):c.94C>T (p.Arg32Cys) rs1057180311
NM_032634.4(PIGO):c.951G>T (p.Val317=)
NM_032634.4(PIGO):c.962T>C (p.Val321Ala) rs1829514099
NM_032634.4(PIGO):c.966C>T (p.Ser322=) rs2131078980
NM_032634.4(PIGO):c.974C>G (p.Pro325Arg) rs1364028691
NM_032634.4(PIGO):c.985del (p.Leu329fs)
NM_032634.4(PIGO):c.996C>T (p.Gly332=)
NM_032634.4(PIGO):c.9A>G (p.Lys3=) rs2131084921
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.6(FANCD2):c.2609_2613del
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
NM_058216.1(RAD51C):c.(?_-1)_837+?del
NM_058216.1(RAD51C):c.572-?_(*1_?)del
NM_058216.1(RAD51C):c.966-?_1026+?del
NM_058216.2(RAD51C):c.572-?_*120del
NM_058216.2(RAD51C):c.572-?_705+?del
NM_058216.2(RAD51C):c.706-?_*120del
NM_058216.3(RAD51C):c.-19G>T rs375889604
NM_058216.3(RAD51C):c.-3G>A rs864622151
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
NM_058216.3(RAD51C):c.1000_1002del (p.Glu334del)
NM_058216.3(RAD51C):c.1003T>C (p.Cys335Arg)
NM_058216.3(RAD51C):c.1003_1004insTTCC (p.Cys335fs)
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.1008A>T (p.Thr336=) rs1057521598
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.1012C>T (p.Leu338=) rs2144046180
NM_058216.3(RAD51C):c.1013_1024del (p.Leu338_Lys342delinsGln) rs780080251
NM_058216.3(RAD51C):c.1014G>A (p.Leu338=)
NM_058216.3(RAD51C):c.1014G>C (p.Leu338=)
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
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.1023C>A (p.Ile341=) rs775672074
NM_058216.3(RAD51C):c.1026+11T>C
NM_058216.3(RAD51C):c.1026+13T>C rs531535812
NM_058216.3(RAD51C):c.1026+13T>G
NM_058216.3(RAD51C):c.1026+14G>T
NM_058216.3(RAD51C):c.1026+15A>G
NM_058216.3(RAD51C):c.1026+20A>C rs764171088
NM_058216.3(RAD51C):c.1026+4A>T
NM_058216.3(RAD51C):c.1026+5G>C
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1026+6T>A rs2144046795
NM_058216.3(RAD51C):c.1026+9T>G rs1598535256
NM_058216.3(RAD51C):c.1027-10T>A rs2049558368
NM_058216.3(RAD51C):c.1027-10T>C rs2049558368
NM_058216.3(RAD51C):c.1027-10del rs768715761
NM_058216.3(RAD51C):c.1027-10dup rs768715761
NM_058216.3(RAD51C):c.1027-11T>G
NM_058216.3(RAD51C):c.1027-13T>G
NM_058216.3(RAD51C):c.1027-14T>A
NM_058216.3(RAD51C):c.1027-16A>G rs1057523589
NM_058216.3(RAD51C):c.1027-17T>C rs998655673
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.1027-7C>T rs2144059941
NM_058216.3(RAD51C):c.1027-8T>C rs1222826165
NM_058216.3(RAD51C):c.1027-9A>C rs2144059903
NM_058216.3(RAD51C):c.1027C>T (p.Pro343Ser) rs786201890
NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)
NM_058216.3(RAD51C):c.1032G>A (p.Gln344=) rs876658609
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.1039A>T (p.Arg347Ter) rs1555605532
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.1047T>G (p.Thr349=) rs2144060685
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.1057_1066del (p.Ser353fs) rs1064792966
NM_058216.3(RAD51C):c.1058C>A (p.Ser353Tyr)
NM_058216.3(RAD51C):c.1059T>C (p.Ser353=) rs1399862812
NM_058216.3(RAD51C):c.105T>C (p.Ala35=) rs2143678775
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.1068A>G (p.Ser356=)
NM_058216.3(RAD51C):c.1069T>C (p.Leu357=) rs1598540135
NM_058216.3(RAD51C):c.1070T>G (p.Leu357Trp)
NM_058216.3(RAD51C):c.1071G>A (p.Leu357=)
NM_058216.3(RAD51C):c.1072C>A (p.Gln358Lys)
NM_058216.3(RAD51C):c.1072C>G (p.Gln358Glu) rs2049563238
NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)
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.1080del (p.Gly361fs)
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.1086C>T (p.Ser362=) rs1555605583
NM_058216.3(RAD51C):c.1087T>C (p.Leu363=)
NM_058216.3(RAD51C):c.1088T>C (p.Leu363Ser) rs2144062004
NM_058216.3(RAD51C):c.108G>A (p.Glu36=)
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.1092C>T (p.Ser364=) 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.1098G>A (p.Arg366=)
NM_058216.3(RAD51C):c.1098G>C (p.Arg366=) rs1555605608
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.109del (p.Glu37fs)
NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)
NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)
NM_058216.3(RAD51C):c.1101A>G (p.Lys367=)
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.1104G>A (p.Arg368=)
NM_058216.3(RAD51C):c.1106C>T (p.Ser369Leu) rs2049566471
NM_058216.3(RAD51C):c.1107A>G (p.Ser369=) rs1555605619
NM_058216.3(RAD51C):c.1108C>A (p.Arg370=) rs756744016
NM_058216.3(RAD51C):c.1108C>G (p.Arg370Gly)
NM_058216.3(RAD51C):c.1110A>T (p.Arg370=) rs1567818815
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.1113C>T (p.Asp371=) rs1598540411
NM_058216.3(RAD51C):c.1114C>A (p.Pro372Thr)
NM_058216.3(RAD51C):c.1119G>A (p.Glu373=) rs786202691
NM_058216.3(RAD51C):c.111A>G (p.Glu37=) rs1365140814
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.1125A>G (p.Glu375=)
NM_058216.3(RAD51C):c.1126T>A (p.Leu376Ile) rs864622632
NM_058216.3(RAD51C):c.1126T>C (p.Leu376=) rs864622632
NM_058216.3(RAD51C):c.1127_1129del (p.Leu376del) rs1232402052
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=) rs545024029
NM_058216.3(RAD51C):c.112C>T (p.Leu38Phe)
NM_058216.3(RAD51C):c.113T>C (p.Leu38Pro) rs1555592021
NM_058216.3(RAD51C):c.114C>T (p.Leu38=) rs786202265
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val) rs759149207
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.116T>G (p.Leu39Arg)
NM_058216.3(RAD51C):c.117A>G (p.Leu39=) rs1158024242
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>A (p.Glu40=)
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.126A>G (p.Lys42=) rs1278628494
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.129C>G (p.Pro43=) rs1555592066
NM_058216.3(RAD51C):c.129C>T (p.Pro43=)
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.132C>T (p.Ser44=) rs1027059784
NM_058216.3(RAD51C):c.132_133delinsTA (p.Glu45Lys) rs1555592076
NM_058216.3(RAD51C):c.133G>A (p.Glu45Lys)
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) rs1598449660
NM_058216.3(RAD51C):c.134A>C (p.Glu45Ala) rs587781383
NM_058216.3(RAD51C):c.135G>A (p.Glu45=) rs371608994
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+10C>A
NM_058216.3(RAD51C):c.145+10C>G
NM_058216.3(RAD51C):c.145+10C>T
NM_058216.3(RAD51C):c.145+11C>T
NM_058216.3(RAD51C):c.145+12T>C
NM_058216.3(RAD51C):c.145+13G>C rs1177750681
NM_058216.3(RAD51C):c.145+14A>G rs1567783355
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.145+16G>A rs1471520258
NM_058216.3(RAD51C):c.145+17G>A rs369854656
NM_058216.3(RAD51C):c.145+17G>T rs369854656
NM_058216.3(RAD51C):c.145+18C>A
NM_058216.3(RAD51C):c.145+18C>T rs763292447
NM_058216.3(RAD51C):c.145+19A>G
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.145+2_145+3insTT rs1567783294
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG rs878855177
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.145+7_145+17del rs2143681500
NM_058216.3(RAD51C):c.145+8C>T rs1555592121
NM_058216.3(RAD51C):c.145G>A (p.Glu49Lys) rs753709131
NM_058216.3(RAD51C):c.146-15T>G
NM_058216.3(RAD51C):c.146-17T>C
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-3C>G rs765143155
NM_058216.3(RAD51C):c.146-4T>C rs2143716945
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.146-8A>C rs201079501
NM_058216.3(RAD51C):c.146-9T>A
NM_058216.3(RAD51C):c.146-9T>G rs2143716823
NM_058216.3(RAD51C):c.146-9del
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.153G>A (p.Gly51=) rs2143717416
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.158del (p.Ser53fs) rs587782533
NM_058216.3(RAD51C):c.15G>A (p.Thr5=)
NM_058216.3(RAD51C):c.160A>G (p.Lys54Glu) rs2047940709
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter) rs2047940709
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr) rs1555593472
NM_058216.3(RAD51C):c.165A>G (p.Ala55=)
NM_058216.3(RAD51C):c.167A>G (p.Glu56Gly) rs1567785734
NM_058216.3(RAD51C):c.168A>T (p.Glu56Asp)
NM_058216.3(RAD51C):c.168del (p.Ala57fs) rs2143717943
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.170C>G (p.Ala57Gly) rs1598455307
NM_058216.3(RAD51C):c.174A>G (p.Leu58=) rs2143718204
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_182del (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.181_189del (p.Leu61_Ile63del)
NM_058216.3(RAD51C):c.183G>A (p.Leu61=) rs200531489
NM_058216.3(RAD51C):c.186A>C (p.Gln62His) rs28363303
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.187A>G (p.Ile63Val) rs876659694
NM_058216.3(RAD51C):c.189T>A (p.Ile63=) rs730881923
NM_058216.3(RAD51C):c.189T>C (p.Ile63=) rs730881923
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.18C>T (p.Phe6=) 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.192C>T (p.Ile64=) rs2143719037
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.199G>T (p.Glu67Ter) rs1567785872
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.201A>G (p.Glu67=) rs1598455493
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter) rs1567785888
NM_058216.3(RAD51C):c.206T>C (p.Leu69Pro) rs1555593527
NM_058216.3(RAD51C):c.207C>A (p.Leu69=)
NM_058216.3(RAD51C):c.207C>T (p.Leu69=) rs1057523582
NM_058216.3(RAD51C):c.208A>T (p.Thr70Ser)
NM_058216.3(RAD51C):c.209C>T (p.Thr70Ile) rs1060502599
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
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.210A>G (p.Thr70=)
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.216_220del (p.Pro73fs) rs786202563
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.21C>A (p.Arg7=) rs1443654986
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.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=) rs1555593553
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter) rs1555593553
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.234A>C (p.Thr78=) rs730881929
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.237T>A (p.Ser79=)
NM_058216.3(RAD51C):c.237T>C (p.Ser79=) rs1555593575
NM_058216.3(RAD51C):c.237T>G (p.Ser79=) rs1555593575
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.245_246insGATGTACA (p.His82fs) rs2143721294
NM_058216.3(RAD51C):c.246C>G (p.His82Gln) rs1555593602
NM_058216.3(RAD51C):c.246C>T (p.His82=) 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>A (p.Lys83=) rs145387081
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.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.251A>G (p.Lys84Arg) rs1372016419
NM_058216.3(RAD51C):c.252G>A (p.Lys84=) rs786202890
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.255T>C (p.Cys85=) rs1318657498
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.258A>G (p.Thr86=)
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.261A>G (p.Ala87=) rs2143722092
NM_058216.3(RAD51C):c.262C>G (p.Leu88Val) rs786201383
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.264G>A (p.Leu88=) rs2047949173
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.270T>A (p.Leu90=) rs1555593651
NM_058216.3(RAD51C):c.270T>C (p.Leu90=) rs1555593651
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.274G>T (p.Glu92Ter) rs765304898
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter) rs1555593670
NM_058216.3(RAD51C):c.278A>C (p.Gln93Pro)
NM_058216.3(RAD51C):c.278A>G (p.Gln93Arg)
NM_058216.3(RAD51C):c.279G>A (p.Gln93=) rs2143722921
NM_058216.3(RAD51C):c.280G>A (p.Glu94Lys) rs1277411638
NM_058216.3(RAD51C):c.282G>A (p.Glu94=) rs2047950465
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.288C>A (p.Thr96=) rs143180709
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.294C>A (p.Gly98=)
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.303C>A (p.Ile101=)
NM_058216.3(RAD51C):c.303C>T (p.Ile101=) rs751840489
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.306C>T (p.Thr102=) rs1567786291
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.312T>A (p.Cys104Ter) rs1555593715
NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs) rs2047953067
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.318A>C (p.Ala106=) rs781371468
NM_058216.3(RAD51C):c.319C>G (p.Leu107Val)
NM_058216.3(RAD51C):c.319C>T (p.Leu107=) rs752817595
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) rs1567782755
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.333T>C (p.Leu111=) rs1598456183
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.336G>C (p.Gly112=) rs746122031
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.338del (p.Gly113fs)
NM_058216.3(RAD51C):c.339T>C (p.Gly113=) rs2143725217
NM_058216.3(RAD51C):c.33G>A (p.Gln11=) rs748248444
NM_058216.3(RAD51C):c.33G>C (p.Gln11His)
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val) rs1555593767
NM_058216.3(RAD51C):c.342A>G (p.Gly114=) rs1555593777
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.345G>A (p.Val115=) rs1598456274
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.348C>G (p.Pro116=) rs2047955792
NM_058216.3(RAD51C):c.348C>T (p.Pro116=) rs2047955792
NM_058216.3(RAD51C):c.34C>A (p.Arg12=)
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.353_356del (p.Met118fs)
NM_058216.3(RAD51C):c.356A>G (p.Lys119Arg) rs2047956106
NM_058216.3(RAD51C):c.357A>G (p.Lys119=) rs863224434
NM_058216.3(RAD51C):c.358ACA[1] (p.Thr121del) rs1555593808
NM_058216.3(RAD51C):c.358dup (p.Thr120fs) rs2143725868
NM_058216.3(RAD51C):c.362C>T (p.Thr121Ile) rs2047956659
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
NM_058216.3(RAD51C):c.367A>G (p.Ile123Val) rs1555593841
NM_058216.3(RAD51C):c.369T>A (p.Ile123=) rs2143726485
NM_058216.3(RAD51C):c.369T>C (p.Ile123=) rs2143726485
NM_058216.3(RAD51C):c.36G>A (p.Arg12=) rs876658798
NM_058216.3(RAD51C):c.36G>C (p.Arg12=) rs876658798
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.374G>T (p.Gly125Val) rs267606998
NM_058216.3(RAD51C):c.375T>C (p.Gly125=)
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val) rs1555593858
NM_058216.3(RAD51C):c.378A>C (p.Ala126=) rs876658639
NM_058216.3(RAD51C):c.379C>G (p.Pro127Ala)
NM_058216.3(RAD51C):c.379C>T (p.Pro127Ser) rs587782222
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
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.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
NM_058216.3(RAD51C):c.380C>G (p.Pro127Arg)
NM_058216.3(RAD51C):c.380C>T (p.Pro127Leu)
NM_058216.3(RAD51C):c.381A>G (p.Pro127=) rs2143727201
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.390A>C (p.Gly130=)
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.393A>G (p.Lys131=) rs1598456492
NM_058216.3(RAD51C):c.394del (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.395C>A (p.Thr132Lys)
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg) rs730881930
NM_058216.3(RAD51C):c.396A>C (p.Thr132=) rs766221834
NM_058216.3(RAD51C):c.396A>T (p.Thr132=) rs766221834
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys) rs387907159
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.398A>C (p.Gln133Pro)
NM_058216.3(RAD51C):c.399A>G (p.Gln133=)
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.400T>C (p.Leu134=) rs863224435
NM_058216.3(RAD51C):c.401T>C (p.Leu134Ser) rs1233795152
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter) rs1233795152
NM_058216.3(RAD51C):c.402A>G (p.Leu134=) rs1064794121
NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg) rs878855178
NM_058216.3(RAD51C):c.404+12T>G
NM_058216.3(RAD51C):c.404+13G>A rs547506164
NM_058216.3(RAD51C):c.404+15del
NM_058216.3(RAD51C):c.404+16C>T rs376465837
NM_058216.3(RAD51C):c.404+18C>T
NM_058216.3(RAD51C):c.404+18_404+20del
NM_058216.3(RAD51C):c.404+3A>G rs1060502598
NM_058216.3(RAD51C):c.404+5A>T
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+7_404+10del rs2143728389
NM_058216.3(RAD51C):c.404+8A>G
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) rs767796996
NM_058216.3(RAD51C):c.405-10C>G rs748811733
NM_058216.3(RAD51C):c.405-15T>C
NM_058216.3(RAD51C):c.405-16A>G rs2048019846
NM_058216.3(RAD51C):c.405-18T>C rs2143742452
NM_058216.3(RAD51C):c.405-18T>G
NM_058216.3(RAD51C):c.405-19G>A rs2143742410
NM_058216.3(RAD51C):c.405-1G>A rs587782036
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.405-20T>G
NM_058216.3(RAD51C):c.405-2A>G rs2048020646
NM_058216.3(RAD51C):c.405-3C>G rs770815835
NM_058216.3(RAD51C):c.405-3C>T rs770815835
NM_058216.3(RAD51C):c.405-5G>A rs1598459949
NM_058216.3(RAD51C):c.405-6T>A rs1064793245
NM_058216.3(RAD51C):c.405-8G>A rs1431351072
NM_058216.3(RAD51C):c.405T>C (p.Cys135=) rs537272666
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.409C>T (p.Gln137Ter) rs2048021234
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.417A>C (p.Ala139=)
NM_058216.3(RAD51C):c.417A>G (p.Ala139=) rs863224436
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.420A>G (p.Val140=) rs1060504672
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>C (p.Asp141=) rs2048022400
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.429G>A (p.Gln143=) rs2143744196
NM_058216.3(RAD51C):c.42G>A (p.Leu14=) rs1598448777
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.438A>G (p.Glu146=) rs876660817
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.444del (p.Phe148fs) rs1555594617
NM_058216.3(RAD51C):c.444dup (p.Gly149fs) rs1555594617
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.447_448delinsT (p.Gly150fs) rs1598460178
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.456A>G (p.Ala152=)
NM_058216.3(RAD51C):c.45G>A (p.Val15=) rs1598448793
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.471T>C (p.Phe157=) rs1422598357
NM_058216.3(RAD51C):c.472dup (p.Ile158fs) rs2143746162
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>C (p.Asp159=) rs760436864
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu) rs760436864
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
NM_058216.3(RAD51C):c.47G>A (p.Ser16Asn) rs1555591843
NM_058216.3(RAD51C):c.480A>C (p.Thr160=) rs1060504670
NM_058216.3(RAD51C):c.480A>G (p.Thr160=) rs1060504670
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val) rs1555594725
NM_058216.3(RAD51C):c.483G>A (p.Glu161=) rs1188093917
NM_058216.3(RAD51C):c.483G>T (p.Glu161Asp) rs1188093917
NM_058216.3(RAD51C):c.484G>A (p.Gly162Arg)
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu) rs35151472
NM_058216.3(RAD51C):c.485del (p.Gly162fs) rs2143746632
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.489T>C (p.Ser163=) 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.491_492del (p.Phe164fs) rs2143746939
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.496del (p.Val166fs) rs2143747219
NM_058216.3(RAD51C):c.498del (p.Asp167fs) rs746993675
NM_058216.3(RAD51C):c.499G>C (p.Asp167His) rs1555594778
NM_058216.3(RAD51C):c.499G>T (p.Asp167Tyr)
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.501T>C (p.Asp167=)
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs) rs587782699
NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly) rs587781490
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.502dup (p.Arg168fs) rs2143747561
NM_058216.3(RAD51C):c.503G>A (p.Arg168Lys)
NM_058216.3(RAD51C):c.504A>G (p.Arg168=) rs1555594805
NM_058216.3(RAD51C):c.505G>A (p.Val169Met)
NM_058216.3(RAD51C):c.508G>A (p.Val170Ile) rs2048030325
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
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.50del (p.Phe17fs) rs1555591851
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.519T>C (p.Ala173=) rs1177998422
NM_058216.3(RAD51C):c.519dup (p.Thr174fs) rs1598460710
NM_058216.3(RAD51C):c.51C>A (p.Phe17Leu) rs1598448876
NM_058216.3(RAD51C):c.51C>T (p.Phe17=) 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.525dup (p.Cys176fs) rs768793789
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.52_53del (p.Pro18fs) rs1598448896
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.535del (p.His179fs) rs1555594864
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.53del (p.Pro18fs)
NM_058216.3(RAD51C):c.542A>G (p.Gln181Arg) rs1064796060
NM_058216.3(RAD51C):c.543G>C (p.Gln181His)
NM_058216.3(RAD51C):c.546T>C (p.Leu182=)
NM_058216.3(RAD51C):c.54G>A (p.Pro18=)
NM_058216.3(RAD51C):c.54G>T (p.Pro18=) rs1555591865
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
NM_058216.3(RAD51C):c.552A>G (p.Ala184=) rs761168518
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.556A>T (p.Lys186Ter) rs1363104728
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup) rs776534031
NM_058216.3(RAD51C):c.558A>G (p.Lys186=)
NM_058216.3(RAD51C):c.559C>G (p.His187Asp)
NM_058216.3(RAD51C):c.55C>T (p.Leu19=) rs1064796141
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.561C>T (p.His187=) rs2048033583
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_058216.3(RAD51C):c.562A>G (p.Lys188Glu)
NM_058216.3(RAD51C):c.562_563del (p.Lys188fs) rs2143749861
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs) rs1555594912
NM_058216.3(RAD51C):c.564G>A (p.Lys188=) rs876658264
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.565G>T (p.Gly189Ter) rs1330937621
NM_058216.3(RAD51C):c.566G>A (p.Gly189Glu) rs1240012999
NM_058216.3(RAD51C):c.567A>G (p.Gly189=) rs1567788981
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>A (p.Glu190=) rs1555594937
NM_058216.3(RAD51C):c.570G>C (p.Glu190Asp)
NM_058216.3(RAD51C):c.571+11A>G
NM_058216.3(RAD51C):c.571+12A>G
NM_058216.3(RAD51C):c.571+13A>G
NM_058216.3(RAD51C):c.571+15_571+16insCA rs370506962
NM_058216.3(RAD51C):c.571+16A>T
NM_058216.3(RAD51C):c.571+17T>C rs2143750571
NM_058216.3(RAD51C):c.571+18C>G
NM_058216.3(RAD51C):c.571+18C>T rs774137305
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571+21_571+23del rs1168224153
NM_058216.3(RAD51C):c.571+2863A>G
NM_058216.3(RAD51C):c.571+2T>A rs1567789009
NM_058216.3(RAD51C):c.571+3013_590del
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.571+7T>C rs1024076621
NM_058216.3(RAD51C):c.571+9G>C rs776730538
NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys) rs1598460983
NM_058216.3(RAD51C):c.572-11del rs587780258
NM_058216.3(RAD51C):c.572-13T>G rs2143796132
NM_058216.3(RAD51C):c.572-14T>G
NM_058216.3(RAD51C):c.572-16T>C rs1555597053
NM_058216.3(RAD51C):c.572-17G>A rs193023469
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.572-21_572-16del rs773035374
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.572-7G>A rs1567794083
NM_058216.3(RAD51C):c.572-8T>C rs2143796223
NM_058216.3(RAD51C):c.573A>G (p.Glu191=) rs2143796412
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>A (p.Arg193=) rs200293302
NM_058216.3(RAD51C):c.577C>G (p.Arg193Gly)
NM_058216.3(RAD51C):c.57G>C (p.Leu19=)
NM_058216.3(RAD51C):c.583G>A (p.Ala195Thr) rs1060502600
NM_058216.3(RAD51C):c.585T>C (p.Ala195=) rs2143796798
NM_058216.3(RAD51C):c.588G>A (p.Leu196=) rs1555597088
NM_058216.3(RAD51C):c.589G>A (p.Glu197Lys) rs1555597094
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) rs1555597094
NM_058216.3(RAD51C):c.591G>A (p.Glu197=)
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.597_603del (p.Phe199fs) rs2048269550
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.612del (p.Leu205fs) rs2143797889
NM_058216.3(RAD51C):c.615T>C (p.Leu205=) rs2143797988
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
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.622_623del (p.Ile208fs) rs876659497
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.627T>G (p.Tyr209Ter)
NM_058216.3(RAD51C):c.629A>G (p.Tyr210Cys) rs1598473310
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
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.636C>T (p.Arg212=) rs1481957875
NM_058216.3(RAD51C):c.637T>C (p.Cys213Arg)
NM_058216.3(RAD51C):c.638G>C (p.Cys213Ser) rs2143798852
NM_058216.3(RAD51C):c.639T>C (p.Cys213=)
NM_058216.3(RAD51C):c.645C>G (p.Asp215Glu) rs2143799278
NM_058216.3(RAD51C):c.645C>T (p.Asp215=)
NM_058216.3(RAD51C):c.647A>G (p.Tyr216Cys) rs746755735
NM_058216.3(RAD51C):c.648C>T (p.Tyr216=)
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.650_651del (p.Thr217fs) rs2048272509
NM_058216.3(RAD51C):c.651A>C (p.Thr217=)
NM_058216.3(RAD51C):c.651A>T (p.Thr217=) rs757915374
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter) rs201529791
NM_058216.3(RAD51C):c.657A>G (p.Leu219=) rs2143800069
NM_058216.3(RAD51C):c.658C>G (p.Leu220Val)
NM_058216.3(RAD51C):c.658C>T (p.Leu220=) rs1555597205
NM_058216.3(RAD51C):c.659T>C (p.Leu220Pro)
NM_058216.3(RAD51C):c.65C>G (p.Ala22Gly)
NM_058216.3(RAD51C):c.663A>C (p.Ala221=)
NM_058216.3(RAD51C):c.666A>G (p.Gln222=) rs1567794382
NM_058216.3(RAD51C):c.667G>A (p.Val223Ile) rs876660177
NM_058216.3(RAD51C):c.669T>C (p.Val223=) rs2143800599
NM_058216.3(RAD51C):c.66G>C (p.Ala22=) rs876660695
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.675del (p.Leu226fs) rs2048274544
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.681A>C (p.Pro227=) rs1177043110
NM_058216.3(RAD51C):c.681A>G (p.Pro227=) rs1177043110
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.687C>T (p.Phe229=) rs780177888
NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe) rs751528808
NM_058216.3(RAD51C):c.688del (p.Leu230fs) rs2143801496
NM_058216.3(RAD51C):c.68T>C (p.Val23Ala)
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs) rs2047807048
NM_058216.3(RAD51C):c.690T>C (p.Leu230=) rs2143801640
NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu) rs1060502588
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer) rs2143801795
NM_058216.3(RAD51C):c.693A>G (p.Ser231=) rs1598473581
NM_058216.3(RAD51C):c.694G>A (p.Glu232Lys) rs2143801948
NM_058216.3(RAD51C):c.696A>G (p.Glu232=) rs786201177
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.6C>G (p.Arg2=) rs1334508786
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.702A>C (p.Ser234=)
NM_058216.3(RAD51C):c.702A>G (p.Ser234=)
NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu) rs1555597252
NM_058216.3(RAD51C):c.704del (p.Lys235fs) rs1567794476
NM_058216.3(RAD51C):c.704dup (p.Val236fs) rs1567794476
NM_058216.3(RAD51C):c.705+13C>A
NM_058216.3(RAD51C):c.705+13C>T
NM_058216.3(RAD51C):c.705+15A>G
NM_058216.3(RAD51C):c.705+16C>G
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.705+1G>T rs876658644
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.705+9C>G rs1598473685
NM_058216.3(RAD51C):c.705+9C>T rs1598473685
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-10C>T
NM_058216.3(RAD51C):c.706-11T>G rs2143849743
NM_058216.3(RAD51C):c.706-12T>A rs2143849715
NM_058216.3(RAD51C):c.706-17A>C
NM_058216.3(RAD51C):c.706-18_706-16del rs1173077552
NM_058216.3(RAD51C):c.706-1G>A rs1555599090
NM_058216.3(RAD51C):c.706-20A>G
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.706-4T>A rs2143849867
NM_058216.3(RAD51C):c.706-5T>C rs2143849856
NM_058216.3(RAD51C):c.706-7T>C rs1555599087
NM_058216.3(RAD51C):c.706-7T>G
NM_058216.3(RAD51C):c.706-9T>A rs1060504671
NM_058216.3(RAD51C):c.706-9T>C 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.711A>T (p.Arg237=)
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.717G>C (p.Val239=) rs1555599108
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.723G>A (p.Val241=) rs2143850541
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.72_73insAT (p.Val25fs) rs775482687
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.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.734C>T (p.Ala245Val) rs1555599151
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
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.73delinsTTC (p.Val25fs) rs1567782936
NM_058216.3(RAD51C):c.741A>G (p.Pro247=) rs1010366805
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.750T>C (p.His250=)
NM_058216.3(RAD51C):c.752A>G (p.Asp251Gly) rs2048496443
NM_058216.3(RAD51C):c.753C>T (p.Asp251=) rs1415231244
NM_058216.3(RAD51C):c.755T>A (p.Leu252Gln) rs2048496750
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.3(RAD51C):c.757G>C (p.Asp253His)
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
NM_058216.3(RAD51C):c.763C>T (p.Leu255=) rs1598484488
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.774T>C (p.Arg258=) rs1555599197
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.778C>A (p.Arg260=)
NM_058216.3(RAD51C):c.779G>C (p.Arg260Pro) rs730881926
NM_058216.3(RAD51C):c.780G>T (p.Arg260=) rs1460932618
NM_058216.3(RAD51C):c.784T>C (p.Leu262=) rs149331537
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT (p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer) rs2143852568
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.795del (p.Ala266fs) rs2143853617
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.799C>T (p.Gln267Ter)
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>A (p.Gln267=) rs2048499866
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.802C>T (p.Gln268Ter) 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.816T>G (p.Leu272=) rs1598484799
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.819A>C (p.Ala273=)
NM_058216.3(RAD51C):c.81G>T (p.Leu27=) rs1311969744
NM_058216.3(RAD51C):c.820A>G (p.Asn274Asp)
NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser) rs1598484851
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.82dup (p.Val28fs) rs2143677258
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+11A>G rs2143855309
NM_058216.3(RAD51C):c.837+12C>G
NM_058216.3(RAD51C):c.837+12C>T
NM_058216.3(RAD51C):c.837+15G>A
NM_058216.3(RAD51C):c.837+16dup
NM_058216.3(RAD51C):c.837+17G>A
NM_058216.3(RAD51C):c.837+19A>G rs1433569356
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.837+2dup rs2048502931
NM_058216.3(RAD51C):c.837+4A>G
NM_058216.3(RAD51C):c.837+4_837+7del rs727503760
NM_058216.3(RAD51C):c.837+4del rs1598484905
NM_058216.3(RAD51C):c.837+5G>A
NM_058216.3(RAD51C):c.837+5G>C rs1567799952
NM_058216.3(RAD51C):c.837+7A>G rs1555599293
NM_058216.3(RAD51C):c.837T>C (p.Ala279=)
NM_058216.3(RAD51C):c.838-14T>C
NM_058216.3(RAD51C):c.838-18T>A rs1567808119
NM_058216.3(RAD51C):c.838-19T>C rs542415157
NM_058216.3(RAD51C):c.838-20C>G rs766600284
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.838-2A>T rs748589398
NM_058216.3(RAD51C):c.838-4del
NM_058216.3(RAD51C):c.838-6T>C rs2143929546
NM_058216.3(RAD51C):c.838-9T>G rs1598503945
NM_058216.3(RAD51C):c.838G>A (p.Val280Ile) rs876660718
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
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.851_854del (p.Asn284fs) rs1060502605
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.860del (p.Thr287fs) rs2143930383
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.864A>G (p.Thr288=) rs1555602110
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>C (p.Asp291=) rs1288802398
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.879T>C (p.Asn293=) rs1555602132
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.888G>A (p.Leu296=) rs370829773
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.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)
NM_058216.3(RAD51C):c.894T>G (p.Val298=) rs1555602147
NM_058216.3(RAD51C):c.894dup (p.Pro299fs) rs2048893092
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.900A>G (p.Ala300=) rs776711046
NM_058216.3(RAD51C):c.903A>C (p.Leu301Phe) rs761799817
NM_058216.3(RAD51C):c.904+11A>T
NM_058216.3(RAD51C):c.904+13T>A rs2143932777
NM_058216.3(RAD51C):c.904+14C>T
NM_058216.3(RAD51C):c.904+17A>C rs760664998
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_058216.3(RAD51C):c.904+21del
NM_058216.3(RAD51C):c.904+2T>C rs2143932427
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.904+7A>C rs1555602171
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.904_904+11del
NM_058216.3(RAD51C):c.905-13T>G rs2049019457
NM_058216.3(RAD51C):c.905-14T>C
NM_058216.3(RAD51C):c.905-15G>C rs2143960875
NM_058216.3(RAD51C):c.905-16T>C
NM_058216.3(RAD51C):c.905-18T>G
NM_058216.3(RAD51C):c.905-18_905-16del rs757889102
NM_058216.3(RAD51C):c.905-1G>A rs2143961181
NM_058216.3(RAD51C):c.905-20A>G rs950351911
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.905-3C>T rs2143961087
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.905-4T>C rs2049020043
NM_058216.3(RAD51C):c.905-4T>G rs2049020043
NM_058216.3(RAD51C):c.905-5C>A
NM_058216.3(RAD51C):c.905-5C>G rs371968149
NM_058216.3(RAD51C):c.905-6T>C
NM_058216.3(RAD51C):c.905G>T (p.Gly302Val) rs786203304
NM_058216.3(RAD51C):c.906G>A (p.Gly302=) rs1598510954
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter) rs2143961266
NM_058216.3(RAD51C):c.909A>T (p.Glu303Asp) rs2049020875
NM_058216.3(RAD51C):c.90G>C (p.Ala30=)
NM_058216.3(RAD51C):c.910A>G (p.Ser304Gly) rs2143961390
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.911G>T (p.Ser304Ile) rs1598510989
NM_058216.3(RAD51C):c.912T>C (p.Ser304=) rs876659009
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009
NM_058216.3(RAD51C):c.913T>C (p.Trp305Arg)
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter) rs2143961567
NM_058216.3(RAD51C):c.916G>A (p.Gly306Arg) rs587782733
NM_058216.3(RAD51C):c.917del (p.Gly306fs) rs2143961536
NM_058216.3(RAD51C):c.918A>G (p.Gly306=) rs2143961685
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.927T>A (p.Ala309=)
NM_058216.3(RAD51C):c.927T>C (p.Ala309=) rs2143961955
NM_058216.3(RAD51C):c.929C>T (p.Thr310Ile) rs2049022193
NM_058216.3(RAD51C):c.92G>C (p.Gly31Ala)
NM_058216.3(RAD51C):c.930A>G (p.Thr310=) rs2049022328
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.933A>C (p.Ile311=) rs965621328
NM_058216.3(RAD51C):c.933A>T (p.Ile311=) rs965621328
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly) rs730881932
NM_058216.3(RAD51C):c.936G>A (p.Arg312=) rs1555603022
NM_058216.3(RAD51C):c.939A>C (p.Leu313=)
NM_058216.3(RAD51C):c.939A>G (p.Leu313=) rs786201953
NM_058216.3(RAD51C):c.93G>A (p.Gly31=) rs769255656
NM_058216.3(RAD51C):c.93G>T (p.Gly31=)
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.941T>C (p.Ile314Thr) rs2143962436
NM_058216.3(RAD51C):c.946del (p.His316fs)
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.954C>T (p.Asp318=) rs876658677
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>A (p.Lys320=) rs864622395
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn) rs864622395
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter) rs2143963184
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.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.965+10G>A rs759703406
NM_058216.3(RAD51C):c.965+18T>A
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.965+20_965+21delinsGT rs2049026490
NM_058216.3(RAD51C):c.965+21A>G rs752811386
NM_058216.3(RAD51C):c.965+28C>T
NM_058216.3(RAD51C):c.965+3C>G
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.965+6T>A
NM_058216.3(RAD51C):c.965+7A>G rs1170701075
NM_058216.3(RAD51C):c.965+867A>G
NM_058216.3(RAD51C):c.965+8C>G rs1598511379
NM_058216.3(RAD51C):c.965+8C>T
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.966-16C>A rs780961985
NM_058216.3(RAD51C):c.966-16_966-14del rs2144043621
NM_058216.3(RAD51C):c.966-17T>A rs2049467437
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.966-4G>A rs878855183
NM_058216.3(RAD51C):c.966-4G>C rs878855183
NM_058216.3(RAD51C):c.966-6A>G
NM_058216.3(RAD51C):c.966-9T>C
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.969G>A (p.Leu323=) rs1598534877
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.972A>G (p.Ala324=)
NM_058216.3(RAD51C):c.973A>G (p.Thr325Ala) rs1555605054
NM_058216.3(RAD51C):c.974C>T (p.Thr325Ile)
NM_058216.3(RAD51C):c.975A>C (p.Thr325=)
NM_058216.3(RAD51C):c.975A>G (p.Thr325=)
NM_058216.3(RAD51C):c.976T>C (p.Leu326=) rs2144044633
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.97_98del (p.Gln33fs) rs587780840
NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter) rs2144044910
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
NM_058216.3(RAD51C):c.984G>A (p.Lys328=) rs2144045008
NM_058216.3(RAD51C):c.984G>C (p.Lys328Asn)
NM_058216.3(RAD51C):c.986C>T (p.Ser329Leu) rs1567817363
NM_058216.3(RAD51C):c.987A>T (p.Ser329=) rs876659303
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.990del (p.Ser331fs)
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.994C>T (p.Gln332Ter) rs1555605074
NM_058216.3(RAD51C):c.999G>A (p.Lys333=) rs2049471981
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_058216.3(RAD51C):c.9G>A (p.Gly3=) rs751117852
NM_058216.3(RAD51C):c.9G>T (p.Gly3=) rs751117852
NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)
NM_130468.4(CHST14):c.1016A>G (p.His339Arg)
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130468.4(CHST14):c.1033del (p.Arg345fs)
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val) rs1566969372
NM_130468.4(CHST14):c.1086T>C (p.Phe362=) rs2141571343
NM_130468.4(CHST14):c.1101T>C (p.Pro367=) rs1189242847
NM_130468.4(CHST14):c.1104T>C (p.Asn368=) rs1351942431
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) rs748434505
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
NM_130468.4(CHST14):c.114C>G (p.Pro38=) rs2141570382
NM_130468.4(CHST14):c.117G>A (p.Leu39=) rs2141570389
NM_130468.4(CHST14):c.130A>G (p.Met44Val) rs1043447552
NM_130468.4(CHST14):c.135G>C (p.Leu45=)
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe) rs1046833753
NM_130468.4(CHST14):c.151G>A (p.Val51Met) rs199749498
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
NM_130468.4(CHST14):c.156_166del (p.Ser53fs) rs1293915082
NM_130468.4(CHST14):c.160dup (p.Ser54fs) rs1566969054
NM_130468.4(CHST14):c.18G>T (p.Leu6=)
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly) rs1475453618
NM_130468.4(CHST14):c.255G>A (p.Gly85=) rs2141570543
NM_130468.4(CHST14):c.264del (p.Lys89fs)
NM_130468.4(CHST14):c.275G>T (p.Gly92Val) rs754720949
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) rs1354036515
NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
NM_130468.4(CHST14):c.303C>T (p.Asp101=) rs2141570597
NM_130468.4(CHST14):c.312G>T (p.Val104=)
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
NM_130468.4(CHST14):c.315del (p.Gln106fs)
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
NM_130468.4(CHST14):c.409C>T (p.Leu137=) rs2141570724
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro) rs1235160320
NM_130468.4(CHST14):c.448C>G (p.Leu150Val) rs2141570771
NM_130468.4(CHST14):c.462C>T (p.Val154=) rs1478974228
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn) rs1555410748
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
NM_130468.4(CHST14):c.48G>A (p.Glu16=)
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) rs1894350607
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
NM_130468.4(CHST14):c.516C>T (p.Val172=)
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs) rs1595869467
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro) rs756707600
NM_130468.4(CHST14):c.609G>T (p.Leu203=) rs2141570922
NM_130468.4(CHST14):c.612G>T (p.Gln204His) rs1894353008
NM_130468.4(CHST14):c.628C>G (p.Leu210Val) rs1894353259
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp) rs146662235
NM_130468.4(CHST14):c.651A>G (p.Glu217=)
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) rs1894354295
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly) rs1043019552
NM_130468.4(CHST14):c.692G>A (p.Arg231Gln) rs751335857
NM_130468.4(CHST14):c.693A>T (p.Arg231=)
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg) rs532315121
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) rs1894355892
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
NM_130468.4(CHST14):c.750G>T (p.Gly250=) rs1402353708
NM_130468.4(CHST14):c.755_851del (p.Ser252fs) rs1555410768
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg) rs2141571079
NM_130468.4(CHST14):c.783del (p.Glu262fs)
NM_130468.4(CHST14):c.834T>C (p.His278=)
NM_130468.4(CHST14):c.846G>A (p.Val282=)
NM_130468.4(CHST14):c.846G>C (p.Val282=) rs139191820
NM_130468.4(CHST14):c.849C>T (p.Tyr283=) rs1438289059
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
NM_130468.4(CHST14):c.90C>A (p.Ala30=)
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
NM_130468.4(CHST14):c.977C>T (p.Ala326Val) rs1234827728
NM_130468.4(CHST14):c.984C>T (p.Tyr328=) rs747403269
NM_130468.4(CHST14):c.999C>T (p.Pro333=)
NM_133433.4(NIPBL):c.-315del
NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs) rs1743386760
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
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.1075dup (p.Thr359fs)
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
NM_133433.4(NIPBL):c.1145del (p.Asn382fs) rs1554015145
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.1235G>A (p.Arg412His)
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
NM_133433.4(NIPBL):c.1278A>G (p.Thr426=)
NM_133433.4(NIPBL):c.1278A>T (p.Thr426=) rs781405794
NM_133433.4(NIPBL):c.1302G>C (p.Val434=) rs769279620
NM_133433.4(NIPBL):c.1302G>T (p.Val434=)
NM_133433.4(NIPBL):c.132A>G (p.Ala44=)
NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter)
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) rs1017711925
NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter) rs1561102868
NM_133433.4(NIPBL):c.1495+11C>G
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
NM_133433.4(NIPBL):c.1495G>C (p.Asp499His)
NM_133433.4(NIPBL):c.1513dup (p.Arg505fs) rs34314728
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)
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.1672del (p.Thr558fs) rs2149643317
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
NM_133433.4(NIPBL):c.169del (p.Arg57fs) rs1554011046
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr)
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.1786_1790del (p.Asn595_His596insTer) rs2149643596
NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs) rs2149643696
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly)
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
NM_133433.4(NIPBL):c.1893G>A (p.Val631=)
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
NM_133433.4(NIPBL):c.1942del (p.Thr648fs) rs2149644023
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala) rs2149644038
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs) rs1554017175
NM_133433.4(NIPBL):c.19del (p.His7fs)
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)
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.210C>A (p.Asn70Lys)
NM_133433.4(NIPBL):c.2120del (p.Gly707fs) rs1580396071
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
NM_133433.4(NIPBL):c.2187T>A (p.Gly729=)
NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)
NM_133433.4(NIPBL):c.2207del (p.Pro736fs) rs2149644816
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
NM_133433.4(NIPBL):c.230+18T>C
NM_133433.4(NIPBL):c.230+19A>G
NM_133433.4(NIPBL):c.230+5G>A rs1580323183
NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)
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.2411_2412dup (p.Pro805fs) rs1744682329
NM_133433.4(NIPBL):c.241del (p.Asp81fs) rs1741183871
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.2464_2467del (p.Gln822fs) rs1554017345
NM_133433.4(NIPBL):c.2472A>C (p.Ser824=)
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2479del (p.Arg827fs) rs1744695193
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter)
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) rs1554017441
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His) rs775238155
NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs)
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)
NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
NM_133433.4(NIPBL):c.2837dup (p.Leu946fs) rs2149646411
NM_133433.4(NIPBL):c.2871C>T (p.Val957=)
NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
NM_133433.4(NIPBL):c.297C>T (p.Val99=)
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
NM_133433.4(NIPBL):c.2997del (p.Lys1000fs) rs2149646812
NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter) rs2149646884
NM_133433.4(NIPBL):c.3040del (p.Gln1014fs) rs2149646890
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe)
NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs) rs1741192008
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter) rs2149647035
NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)
NM_133433.4(NIPBL):c.3121+19A>C
NM_133433.4(NIPBL):c.3121+7A>C
NM_133433.4(NIPBL):c.3122-17T>G
NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly)
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) rs1554019667
NM_133433.4(NIPBL):c.3178del (p.Glu1060fs) rs2149662539
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs) rs1554019698
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs) rs1580425629
NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
NM_133433.4(NIPBL):c.3304+1G>A rs1554019712
NM_133433.4(NIPBL):c.3305-17T>C
NM_133433.4(NIPBL):c.3305-18A>G
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly) rs2149668934
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)
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.3401C>A (p.Ser1134Tyr)
NM_133433.4(NIPBL):c.3405T>C (p.His1135=)
NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter) rs2149669144
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu) rs1746665222
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter) rs1580436698
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
NM_133433.4(NIPBL):c.3485del (p.Pro1162fs)
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=)
NM_133433.4(NIPBL):c.3502+20G>A
NM_133433.4(NIPBL):c.3503-12T>C
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile) rs1746709380
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=)
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val) rs892589257
NM_133433.4(NIPBL):c.3574+12_3574+16del
NM_133433.4(NIPBL):c.3575-19A>G
NM_133433.4(NIPBL):c.3575-2A>G
NM_133433.4(NIPBL):c.3575-3_3575-2insG
NM_133433.4(NIPBL):c.3575-9C>T
NM_133433.4(NIPBL):c.358+1G>T rs587783927
NM_133433.4(NIPBL):c.358+3G>C rs1580330420
NM_133433.4(NIPBL):c.3646dup (p.Met1216fs)
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
NM_133433.4(NIPBL):c.3664+11C>T
NM_133433.4(NIPBL):c.3664+19A>G
NM_133433.4(NIPBL):c.3664+1G>A
NM_133433.4(NIPBL):c.3664+8C>T
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
NM_133433.4(NIPBL):c.3705dup (p.His1236fs)
NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter) rs2149607039
NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs) rs1746965734
NM_133433.4(NIPBL):c.3768+15T>C
NM_133433.4(NIPBL):c.3769-8T>A
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.3786T>C (p.Thr1262=)
NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=)
NM_133433.4(NIPBL):c.3855+1G>A rs587783933
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-10T>G rs2149676690
NM_133433.4(NIPBL):c.3856-18A>G
NM_133433.4(NIPBL):c.3856-23_3856-13del
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys) rs1741620942
NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs) rs1580451470
NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala)
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) rs886042218
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser) rs1580451626
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys) rs1747444771
NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter) rs1561145912
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)
NM_133433.4(NIPBL):c.4087+15_4087+20del
NM_133433.4(NIPBL):c.4087+18C>G
NM_133433.4(NIPBL):c.4087+9del
NM_133433.4(NIPBL):c.4088-6T>C
NM_133433.4(NIPBL):c.4088-8del
NM_133433.4(NIPBL):c.4088-9T>C
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr)
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr) rs2149677952
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs) rs587783941
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)
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.4226_4227del (p.Thr1409fs)
NM_133433.4(NIPBL):c.4239+7T>C
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=)
NM_133433.4(NIPBL):c.4320+5G>A
NM_133433.4(NIPBL):c.4321-6A>G
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter)
NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)
NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter) rs767317539
NM_133433.4(NIPBL):c.4421+15_4421+16del
NM_133433.4(NIPBL):c.4421+18_4421+19del
NM_133433.4(NIPBL):c.4421+20G>T
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs) rs2149607105
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=)
NM_133433.4(NIPBL):c.444A>G (p.Ser148=)
NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs) rs2149681441
NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs) rs2149681475
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del)
NM_133433.4(NIPBL):c.453C>T (p.Pro151=)
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter) rs751902505
NM_133433.4(NIPBL):c.4560+19G>A
NM_133433.4(NIPBL):c.4560+19G>T
NM_133433.4(NIPBL):c.4560+1G>C rs2149681631
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.458+17del
NM_133433.4(NIPBL):c.458+19G>A
NM_133433.4(NIPBL):c.458+9T>C
NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)
NM_133433.4(NIPBL):c.4593T>A (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.45G>C (p.Gly15=)
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.4617A>G (p.Gln1539=)
NM_133433.4(NIPBL):c.462G>A (p.Arg154=) rs769203117
NM_133433.4(NIPBL):c.4643+10A>G
NM_133433.4(NIPBL):c.4643+1G>A rs587783954
NM_133433.4(NIPBL):c.4644-16A>G
NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser) rs1447713911
NM_133433.4(NIPBL):c.4675_4750dup (p.Leu1584delinsGlnThrThrValTer) rs2149690678
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) rs1554023967
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg)
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter)
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) rs1748964402
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs)
NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT
NM_133433.4(NIPBL):c.4777-16C>A
NM_133433.4(NIPBL):c.4777-6A>G
NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer) rs886041810
NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp) rs1749083607
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
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.4921-12T>C
NM_133433.4(NIPBL):c.4921-4A>G
NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=)
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
NM_133433.4(NIPBL):c.5010+18T>C
NM_133433.4(NIPBL):c.5011-16T>G
NM_133433.4(NIPBL):c.5011-19C>G
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5011-8C>T
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter) rs797045769
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs)
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
NM_133433.4(NIPBL):c.5118T>C (p.His1706=)
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5225+2T>G
NM_133433.4(NIPBL):c.5226-11T>C
NM_133433.4(NIPBL):c.5226-3C>T
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.4(NIPBL):c.5269del (p.Val1757fs) rs2149696978
NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=) rs758853244
NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=)
NM_133433.4(NIPBL):c.5328+20C>T
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.533del (p.Tyr178fs)
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs) rs587783973
NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=)
NM_133433.4(NIPBL):c.5427+16G>A
NM_133433.4(NIPBL):c.5427+20C>T
NM_133433.4(NIPBL):c.5427+24_5427+27del
NM_133433.4(NIPBL):c.5428-20T>G
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter) rs587783975
NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=)
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
NM_133433.4(NIPBL):c.546C>T (p.Ser182=)
NM_133433.4(NIPBL):c.5507G>A (p.Gly1836Asp) rs1749739420
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter) rs1554025780
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
NM_133433.4(NIPBL):c.5574+11C>A
NM_133433.4(NIPBL):c.5574+5G>T
NM_133433.4(NIPBL):c.5574+7T>G
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val) rs1750049593
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del)
NM_133433.4(NIPBL):c.5709+4G>C
NM_133433.4(NIPBL):c.5710-13C>G
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs) rs2149704475
NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser) rs2149704501
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del) rs1750256312
NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn)
NM_133433.4(NIPBL):c.5808+1G>A rs587783984
NM_133433.4(NIPBL):c.5808+20G>C
NM_133433.4(NIPBL):c.5808+2T>C rs794727556
NM_133433.4(NIPBL):c.5808+6_5808+8del
NM_133433.4(NIPBL):c.5809-18T>A
NM_133433.4(NIPBL):c.5811T>G (p.Val1937=)
NM_133433.4(NIPBL):c.5863-19_5863-2del rs753611931
NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)
NM_133433.4(NIPBL):c.5972-14G>C
NM_133433.4(NIPBL):c.5972-16_5972-15del
NM_133433.4(NIPBL):c.5972-1G>C
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter) rs587783988
NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=) rs2149721385
NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter)
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)
NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=) rs745516748
NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs) rs2149721484
NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs) rs1554030285
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser)
NM_133433.4(NIPBL):c.6108+13C>T
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr) rs2149607994
NM_133433.4(NIPBL):c.611-14_611-12del
NM_133433.4(NIPBL):c.611-3C>T
NM_133433.4(NIPBL):c.611-8A>G
NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=) rs1579556694
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln) rs587783999
NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro)
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln)
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)
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.6249+14T>G rs2149730972
NM_133433.4(NIPBL):c.6249+17C>T
NM_133433.4(NIPBL):c.6249+18C>G
NM_133433.4(NIPBL):c.6249+1G>A rs2149730953
NM_133433.4(NIPBL):c.6249+5G>A
NM_133433.4(NIPBL):c.6250-11A>G
NM_133433.4(NIPBL):c.6250-13C>T
NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg)
NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser)
NM_133433.4(NIPBL):c.6343+4A>T rs1344872907
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter) rs2149732594
NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=)
NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=)
NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=)
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.64+2_64+134del rs1740652803
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.6450A>G (p.Leu2150=)
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) rs1579561078
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro) rs781297222
NM_133433.4(NIPBL):c.65-20T>G
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)
NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser)
NM_133433.4(NIPBL):c.6589+13T>C
NM_133433.4(NIPBL):c.6589+5G>A rs1554032266
NM_133433.4(NIPBL):c.6590-12C>T
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr) rs1753199066
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) rs2149737037
NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met) rs1579570362
NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) rs797045778
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)
NM_133433.4(NIPBL):c.6763+13A>G
NM_133433.4(NIPBL):c.6763+18T>C
NM_133433.4(NIPBL):c.6763+1G>A rs1753212131
NM_133433.4(NIPBL):c.6763+20T>C
NM_133433.4(NIPBL):c.6764-10G>A
NM_133433.4(NIPBL):c.6764-6T>C
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter) rs1554032954
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg)
NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly) rs2149737924
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
NM_133433.4(NIPBL):c.6954+13T>G
NM_133433.4(NIPBL):c.6954+18C>T
NM_133433.4(NIPBL):c.6954+7A>G
NM_133433.4(NIPBL):c.6955-20A>T
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133433.4(NIPBL):c.6955-9dup
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs) rs1561214997
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7013del (p.Ala2338fs) rs2149741562
NM_133433.4(NIPBL):c.7062+7_7062+8del
NM_133433.4(NIPBL):c.7063-11A>C
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) rs2149742261
NM_133433.4(NIPBL):c.708T>G (p.Ala236=)
NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro)
NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile)
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg)
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=)
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro) rs765741574
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=) rs1579583689
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
NM_133433.4(NIPBL):c.7263+1G>A
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7264-19T>C
NM_133433.4(NIPBL):c.7264-7T>C
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro) rs2149750216
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
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.7473C>T (p.Ser2491=)
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
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.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.7617_7618del (p.Ser2540fs)
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) rs1754396332
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter)
NM_133433.4(NIPBL):c.7685+19T>G
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs) rs1554035266
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.771+20T>G
NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
NM_133433.4(NIPBL):c.772-12C>T
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) rs80358351
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)
NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs) rs1754594011
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr) rs2149755591
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs) rs2149755630
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs)
NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs) rs1754603855
NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter)
NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer) rs2149755687
NM_133433.4(NIPBL):c.7861-9T>G
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)
NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val) rs1248025959
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs) rs1755082448
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)
NM_133433.4(NIPBL):c.8049+1G>A
NM_133433.4(NIPBL):c.8049+6G>A
NM_133433.4(NIPBL):c.8049+7C>T
NM_133433.4(NIPBL):c.8050-15del
NM_133433.4(NIPBL):c.8050-8T>C
NM_133433.4(NIPBL):c.807T>G (p.Ser269=)
NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)
NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=)
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.8311A>G (p.Ile2771Val)
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer) rs1755224830
NM_133433.4(NIPBL):c.834A>G (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.834A>T (p.Val278=)
NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu)
NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)
NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)
NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=) rs997526101
NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
NM_133433.4(NIPBL):c.843T>C (p.Pro281=)
NM_133433.4(NIPBL):c.868+16A>G
NM_133433.4(NIPBL):c.868+17A>G
NM_133433.4(NIPBL):c.868+4C>G
NM_133433.4(NIPBL):c.868+4C>T
NM_133433.4(NIPBL):c.868+8T>A
NM_133433.4(NIPBL):c.869-15G>A
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)
NM_133433.4(NIPBL):c.879A>G (p.Pro293=)
NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
NM_133433.4(NIPBL):c.904C>T (p.Leu302=)
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_133433.4(NIPBL):c.99T>C (p.Pro33=)
NM_147127.5(EVC2):c.1005+11C>G
NM_147127.5(EVC2):c.1005+14G>A
NM_147127.5(EVC2):c.1005+15A>C
NM_147127.5(EVC2):c.1005+17G>A
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1005+7C>G rs1453329419
NM_147127.5(EVC2):c.1006-13A>C
NM_147127.5(EVC2):c.1006-15G>A
NM_147127.5(EVC2):c.1006-15G>T rs371325268
NM_147127.5(EVC2):c.1006-16C>T
NM_147127.5(EVC2):c.1006-17C>A
NM_147127.5(EVC2):c.1006-17C>G
NM_147127.5(EVC2):c.1006-5T>C
NM_147127.5(EVC2):c.1006-5dup
NM_147127.5(EVC2):c.1006-6C>A
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn) rs888701582
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.1047C>T (p.Thr349=) rs2108896061
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) rs2151750076
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
NM_147127.5(EVC2):c.1059C>A (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
NM_147127.5(EVC2):c.1086C>T (p.Asp362=) rs1719017773
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
NM_147127.5(EVC2):c.1108del (p.Ser370fs) rs2108895910
NM_147127.5(EVC2):c.1110C>T (p.Ser370=) rs748718225
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
NM_147127.5(EVC2):c.1145+19A>G rs1560206472
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1146-11G>A
NM_147127.5(EVC2):c.1146-11G>T
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1146-18G>T
NM_147127.5(EVC2):c.1146-19T>C
NM_147127.5(EVC2):c.1146-19T>G
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1146-5C>T
NM_147127.5(EVC2):c.1146-9G>C rs774847750
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1161C>G (p.Thr387=) rs1717278166
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1173A>C (p.Ala391=) rs1276908557
NM_147127.5(EVC2):c.1176T>C (p.Asp392=) rs1577195366
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
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.1230G>A (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1230G>T (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.123C>T (p.Pro41=) rs1722355414
NM_147127.5(EVC2):c.1245C>T (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1254C>T (p.Gly418=) rs2108864185
NM_147127.5(EVC2):c.1257C>T (p.His419=) rs1717268176
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1260C>T (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1309C>T (p.Leu437=) rs1434202396
NM_147127.5(EVC2):c.1311A>C (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
NM_147127.5(EVC2):c.1335G>A (p.Glu445=) rs2108863935
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) rs1717259479
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
NM_147127.5(EVC2):c.1359A>T (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1360T>C (p.Leu454=) rs2108863865
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) rs2108863739
NM_147127.5(EVC2):c.1413G>A (p.Gln471=) rs2108863731
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
NM_147127.5(EVC2):c.144G>A (p.Arg48=) rs2151750018
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.1470+10G>A rs1198809289
NM_147127.5(EVC2):c.1470+11_1470+19del
NM_147127.5(EVC2):c.1470+12C>G
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+1dup rs1717244500
NM_147127.5(EVC2):c.1470+2T>C
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1470+7C>T
NM_147127.5(EVC2):c.1470+8A>G rs761155878
NM_147127.5(EVC2):c.1471-10C>T rs1439878397
NM_147127.5(EVC2):c.1471-12T>G
NM_147127.5(EVC2):c.1471-13T>C
NM_147127.5(EVC2):c.1471-17C>T
NM_147127.5(EVC2):c.1471-20T>C
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1471-4C>G rs947596816
NM_147127.5(EVC2):c.1471-5T>A rs1043283150
NM_147127.5(EVC2):c.1471-5T>C rs1043283150
NM_147127.5(EVC2):c.1471-8C>G rs2108851855
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs) rs2108851802
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1503C>A (p.Thr501=) rs369530549
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
NM_147127.5(EVC2):c.1509T>C (p.His503=) rs771803987
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
NM_147127.5(EVC2):c.150C>T (p.Pro50=) rs1347650453
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) rs2108851695
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs) rs1560180583
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.1563C>T (p.Asp521=)
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
NM_147127.5(EVC2):c.1578C>T (p.His526=)
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp) rs1329925495
NM_147127.5(EVC2):c.159T>C (p.Ala53=) rs2151749984
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) rs1284395468
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
NM_147127.5(EVC2):c.1614C>T (p.His538=)
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
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.1659A>G (p.Glu553=)
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1671G>A (p.Glu557=) rs2108851360
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
NM_147127.5(EVC2):c.1686G>T (p.Leu562=) rs1236419324
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
NM_147127.5(EVC2):c.1689G>A (p.Leu563=) rs2108851319
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
NM_147127.5(EVC2):c.1710+12G>A
NM_147127.5(EVC2):c.1710+14C>T
NM_147127.5(EVC2):c.1710+16C>T
NM_147127.5(EVC2):c.1710+17G>A
NM_147127.5(EVC2):c.1710+17G>T
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1710+7C>T rs2108851268
NM_147127.5(EVC2):c.1710+8A>C
NM_147127.5(EVC2):c.1710+8A>G
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-14T>C
NM_147127.5(EVC2):c.1711-18T>G
NM_147127.5(EVC2):c.1711-19T>A
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1711-9A>C rs1716315517
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
NM_147127.5(EVC2):c.174C>T (p.Pro58=) rs1317163956
NM_147127.5(EVC2):c.1752G>A (p.Lys584=) rs762593768
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs) rs2108847232
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
NM_147127.5(EVC2):c.1767T>C (p.Ser589=) rs2108847209
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
NM_147127.5(EVC2):c.1788A>G (p.Glu596=) rs2108847187
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=) rs1716303868
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
NM_147127.5(EVC2):c.1794G>T (p.Leu598=) rs1577179214
NM_147127.5(EVC2):c.1797C>T (p.Val599=) rs2108847158
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser) rs775815805
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
NM_147127.5(EVC2):c.1812A>G (p.Ser604=) rs781487000
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
NM_147127.5(EVC2):c.1833C>A (p.Gly611=) rs879125910
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1854C>T (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1857G>A (p.Gln619=) rs2108847045
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs) rs2108847014
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln) rs1560177469
NM_147127.5(EVC2):c.1860G>C (p.Leu620=) rs763402206
NM_147127.5(EVC2):c.1866C>T (p.His622=) rs1300374301
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
NM_147127.5(EVC2):c.1878G>A (p.Lys626=) rs1001648119
NM_147127.5(EVC2):c.1886+10A>C rs2108846937
NM_147127.5(EVC2):c.1886+13A>G
NM_147127.5(EVC2):c.1886+16G>A
NM_147127.5(EVC2):c.1886+3A>G rs2108846962
NM_147127.5(EVC2):c.1886+9C>G
NM_147127.5(EVC2):c.1886+9C>T
NM_147127.5(EVC2):c.1887-12C>T
NM_147127.5(EVC2):c.1887-15A>G
NM_147127.5(EVC2):c.1887-16C>T
NM_147127.5(EVC2):c.1887-17A>C
NM_147127.5(EVC2):c.1887-18T>C
NM_147127.5(EVC2):c.1887-19T>G
NM_147127.5(EVC2):c.1887-4C>G rs376809175
NM_147127.5(EVC2):c.1887-4C>T
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.1893G>A (p.Gly631=) rs1363412492
NM_147127.5(EVC2):c.1923A>T (p.Leu641=) rs1193715900
NM_147127.5(EVC2):c.1924T>C (p.Leu642=) rs2108843348
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe) rs2108843340
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1932G>A (p.Arg644=) rs1577175315
NM_147127.5(EVC2):c.1935T>C (p.Ala645=) rs2108843316
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
NM_147127.5(EVC2):c.1941A>G (p.Thr647=) rs2108843302
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
NM_147127.5(EVC2):c.1959G>A (p.Lys653=) rs2108843274
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
NM_147127.5(EVC2):c.1991dup (p.Lys665fs) rs2108843224
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly) rs1722347761
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
NM_147127.5(EVC2):c.2001C>G (p.Leu667=) rs756855227
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
NM_147127.5(EVC2):c.2010del (p.Lys670fs) rs2108843186
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
NM_147127.5(EVC2):c.2019T>C (p.Thr673=) rs2108843154
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2031A>G (p.Arg677=) rs1577175103
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2046+10G>A
NM_147127.5(EVC2):c.2046+13T>C
NM_147127.5(EVC2):c.2046+14del
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2046+7A>G rs769477288
NM_147127.5(EVC2):c.2047-10G>A rs2108839481
NM_147127.5(EVC2):c.2047-17C>G
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2047-4C>G rs2108839468
NM_147127.5(EVC2):c.2047-4C>T
NM_147127.5(EVC2):c.2047-9A>C rs73198154
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.205del (p.Ala69fs) rs1400121444
NM_147127.5(EVC2):c.2067G>A (p.Glu689=) rs201506848
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) rs1715829134
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr) rs1381479998
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn) rs371896802
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2139G>C (p.Leu713=) rs1420713271
NM_147127.5(EVC2):c.213C>A (p.Pro71=) rs956555128
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
NM_147127.5(EVC2):c.2181T>A (p.Arg727=) rs2108839127
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn) rs1715808033
NM_147127.5(EVC2):c.2208C>A (p.Leu736=) rs762567213
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
NM_147127.5(EVC2):c.2217G>T (p.Leu739=) rs2108839042
NM_147127.5(EVC2):c.2220C>A (p.Thr740=) rs1322356357
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2241C>T (p.Ala747=) rs2108838978
NM_147127.5(EVC2):c.2256G>T (p.Arg752=) rs745815880
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.225G>A (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
NM_147127.5(EVC2):c.225G>T (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.2260C>T (p.Leu754=) rs994924513
NM_147127.5(EVC2):c.2262G>C (p.Leu754=) rs1715799265
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg) rs976833828
NM_147127.5(EVC2):c.228+11C>T
NM_147127.5(EVC2):c.228+13C>T
NM_147127.5(EVC2):c.228+14G>A
NM_147127.5(EVC2):c.228+16C>T
NM_147127.5(EVC2):c.228+17C>A
NM_147127.5(EVC2):c.228+18C>G
NM_147127.5(EVC2):c.228+20A>C
NM_147127.5(EVC2):c.228+8G>A rs965425013
NM_147127.5(EVC2):c.228+9G>T
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
NM_147127.5(EVC2):c.229-14C>G
NM_147127.5(EVC2):c.229-18G>C
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
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.2301G>A (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2301G>C (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser) rs1454769055
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
NM_147127.5(EVC2):c.2319G>A (p.Leu773=) rs775800077
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
NM_147127.5(EVC2):c.2328C>T (p.Ile776=) rs2108838807
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser) rs1272970867
NM_147127.5(EVC2):c.2346G>A (p.Lys782=) rs2108838756
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
NM_147127.5(EVC2):c.2358A>G (p.Ala786=) rs903048338
NM_147127.5(EVC2):c.2359C>A (p.Arg787=) rs776830520
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
NM_147127.5(EVC2):c.2361G>T (p.Arg787=) rs1041638769
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
NM_147127.5(EVC2):c.2373G>T (p.Leu791=) rs762295916
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
NM_147127.5(EVC2):c.237C>G (p.Pro79=) rs1721565602
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala) rs931667385
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2405del (p.Gly802fs) rs2108838579
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
NM_147127.5(EVC2):c.2412G>A (p.Gln804=) rs1715777770
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
NM_147127.5(EVC2):c.2433G>A (p.Lys811=) rs2108838539
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
NM_147127.5(EVC2):c.2451C>G (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
NM_147127.5(EVC2):c.2473C>T (p.Leu825=) rs774185697
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
NM_147127.5(EVC2):c.2481C>T (p.Arg827=) rs1577169762
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
NM_147127.5(EVC2):c.2490C>T (p.His830=) rs944565097
NM_147127.5(EVC2):c.2493G>A (p.Leu831=) rs369796222
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
NM_147127.5(EVC2):c.24G>A (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.24G>T (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.2501+14C>T
NM_147127.5(EVC2):c.2501+15G>A
NM_147127.5(EVC2):c.2501+17G>T rs755613338
NM_147127.5(EVC2):c.2501+19C>T
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.2501+20G>C
NM_147127.5(EVC2):c.2501+7G>A
NM_147127.5(EVC2):c.2502-11C>G
NM_147127.5(EVC2):c.2502-12T>G
NM_147127.5(EVC2):c.2502-18C>G
NM_147127.5(EVC2):c.2502-20G>A
NM_147127.5(EVC2):c.2502-20G>C
NM_147127.5(EVC2):c.2502-7C>T
NM_147127.5(EVC2):c.2505G>A (p.Lys835=) rs527993206
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
NM_147127.5(EVC2):c.2514C>A (p.Ser838=) rs1715456441
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile) rs2108833529
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs) rs2108833500
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) rs2151739558
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
NM_147127.5(EVC2):c.2544G>A (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2544G>C (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2568T>C (p.His856=)
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
NM_147127.5(EVC2):c.258G>A (p.Val86=)
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
NM_147127.5(EVC2):c.2616G>C (p.Arg872=) rs1715442469
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
NM_147127.5(EVC2):c.261A>G (p.Glu87=) rs1721564411
NM_147127.5(EVC2):c.2620C>A (p.Arg874=) rs760382778
NM_147127.5(EVC2):c.2631G>T (p.Leu877=) rs2108833246
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs) rs2108833230
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
NM_147127.5(EVC2):c.2649G>T (p.Ala883=) rs751714104
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
NM_147127.5(EVC2):c.2658A>G (p.Glu886=) rs2108833172
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
NM_147127.5(EVC2):c.2676G>A (p.Leu892=) rs2108833128
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
NM_147127.5(EVC2):c.2682G>A (p.Gln894=) rs772672973
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
NM_147127.5(EVC2):c.2703G>A (p.Leu901=) rs902054124
NM_147127.5(EVC2):c.2706+10A>G
NM_147127.5(EVC2):c.2706+11C>G
NM_147127.5(EVC2):c.2706+13T>A
NM_147127.5(EVC2):c.2706+16C>G
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
NM_147127.5(EVC2):c.2707-11C>T
NM_147127.5(EVC2):c.2707-15C>G rs2108829132
NM_147127.5(EVC2):c.2707-15C>T
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2707-4C>G rs1368840473
NM_147127.5(EVC2):c.2707-6C>T rs2108829097
NM_147127.5(EVC2):c.2707-7_2707-6insA
NM_147127.5(EVC2):c.2707-9C>A rs772234395
NM_147127.5(EVC2):c.2712G>A (p.Gln904=) rs2108829070
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) rs2108829049
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
NM_147127.5(EVC2):c.273T>C (p.Phe91=) rs2151739532
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
NM_147127.5(EVC2):c.2757G>A (p.Glu919=) rs2108828983
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
NM_147127.5(EVC2):c.2775C>A (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2775C>T (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2781C>T (p.Asp927=) rs1193965705
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer) rs765076649
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
NM_147127.5(EVC2):c.27C>G (p.Arg9=) rs2151750187
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
NM_147127.5(EVC2):c.2820G>C (p.Leu940=) rs145709352
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
NM_147127.5(EVC2):c.2829+11C>G
NM_147127.5(EVC2):c.2829+12T>G
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.283+15T>C
NM_147127.5(EVC2):c.283+15del
NM_147127.5(EVC2):c.283+17G>A
NM_147127.5(EVC2):c.2830-10C>T
NM_147127.5(EVC2):c.2830-15C>A
NM_147127.5(EVC2):c.2830-18A>C
NM_147127.5(EVC2):c.2830-19C>T
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2830-5C>G rs1712137643
NM_147127.5(EVC2):c.2830-5C>T
NM_147127.5(EVC2):c.2830-7C>T
NM_147127.5(EVC2):c.2830-8C>T rs548370448
NM_147127.5(EVC2):c.2830-9C>T rs1414864322
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
NM_147127.5(EVC2):c.2838T>C (p.Gly946=) rs764538071
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.284-11T>C
NM_147127.5(EVC2):c.284-14T>C
NM_147127.5(EVC2):c.284-14T>G
NM_147127.5(EVC2):c.284-15GTT[2]
NM_147127.5(EVC2):c.284-16T>C
NM_147127.5(EVC2):c.284-19G>A
NM_147127.5(EVC2):c.284-20G>T
NM_147127.5(EVC2):c.284-5T>C rs994568319
NM_147127.5(EVC2):c.2842T>C (p.Leu948=) rs2108788809
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
NM_147127.5(EVC2):c.2847G>C (p.Leu949=) rs763331726
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
NM_147127.5(EVC2):c.2880G>A (p.Glu960=) rs903682822
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) rs145425340
NM_147127.5(EVC2):c.2898G>T (p.Ser966=) rs150055324
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
NM_147127.5(EVC2):c.2919G>A (p.Gln973=) rs759657816
NM_147127.5(EVC2):c.291A>C (p.Ala97=) rs752850734
NM_147127.5(EVC2):c.2928C>A (p.Ser976=) rs2108788636
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
NM_147127.5(EVC2):c.2937C>A (p.Thr979=) rs750126669
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
NM_147127.5(EVC2):c.2940G>A (p.Glu980=) rs2108788600
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
NM_147127.5(EVC2):c.2943T>C (p.Thr981=) rs2108788584
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2946G>A (p.Leu982=) rs2108788572
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu) rs536732931
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=) rs2108788542
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
NM_147127.5(EVC2):c.2967C>T (p.Leu989=) rs2108788495
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
NM_147127.5(EVC2):c.2980T>C (p.Leu994=) rs2108788479
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=) rs1577118232
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=) rs1577118206
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) rs60809236
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp) rs60809236
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val) rs2108788322
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.3051C>T (p.His1017=) rs2108788303
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
NM_147127.5(EVC2):c.3057+10G>T rs2108788255
NM_147127.5(EVC2):c.3057+11G>A
NM_147127.5(EVC2):c.3057+11G>T
NM_147127.5(EVC2):c.3057+12C>T
NM_147127.5(EVC2):c.3057+14_3057+16del
NM_147127.5(EVC2):c.3057+15T>C
NM_147127.5(EVC2):c.3057+1del rs772639262
NM_147127.5(EVC2):c.3057+9A>C rs774288170
NM_147127.5(EVC2):c.3057+9A>T
NM_147127.5(EVC2):c.3058-17G>A
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3058-20T>C
NM_147127.5(EVC2):c.3058-4G>T rs1490949079
NM_147127.5(EVC2):c.3058-7T>C
NM_147127.5(EVC2):c.3058-9C>T rs1722942659
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=) rs2108778947
NM_147127.5(EVC2):c.306A>G (p.Lys102=) rs2151736755
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=) rs1208477150
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=) rs1429408396
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=) rs2108778905
NM_147127.5(EVC2):c.3099G>A (p.Val1033=) rs2108778897
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
NM_147127.5(EVC2):c.30C>A (p.Pro10=) rs1193570001
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=) rs767047805
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) rs200560762
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
NM_147127.5(EVC2):c.314del (p.Lys105fs)
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=) rs770163191
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=) rs778954685
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
NM_147127.5(EVC2):c.3194del (p.Asp1065fs) rs2108778725
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=) rs2108778699
NM_147127.5(EVC2):c.3210C>G (p.Val1070=) rs1722925677
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=) rs2108778665
NM_147127.5(EVC2):c.3225C>T (p.His1075=) rs2108778650
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=) rs779116122
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=) rs1235779972
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3272+20G>A
NM_147127.5(EVC2):c.3272+20G>T
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.3272+8G>T
NM_147127.5(EVC2):c.3273-19T>C
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3273-6C>T
NM_147127.5(EVC2):c.3273-7A>C
NM_147127.5(EVC2):c.3273-7A>G rs1382818953
NM_147127.5(EVC2):c.3273-7dup rs2108777051
NM_147127.5(EVC2):c.3273-8C>A
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=) rs1462214483
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) rs1722814486
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=) rs1722813978
NM_147127.5(EVC2):c.3360+16C>G
NM_147127.5(EVC2):c.3360+16del
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3361-10T>C rs2108771027
NM_147127.5(EVC2):c.3361-11G>A rs369005788
NM_147127.5(EVC2):c.3361-14G>A
NM_147127.5(EVC2):c.3361-18C>T
NM_147127.5(EVC2):c.3361-20C>T
NM_147127.5(EVC2):c.3361-7C>T rs772860972
NM_147127.5(EVC2):c.3361-8T>A rs1358459718
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=) rs1722461930
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=) rs2108770980
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=) rs752793772
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.339C>G (p.Leu113=)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=) rs1577099807
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=) rs2108770885
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) rs1722452431
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=) rs1722452266
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=) rs2108770821
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=) rs1722451421
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=) rs760612657
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs) rs2108770774
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=) rs767393828
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
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.3546G>A (p.Val1182=)
NM_147127.5(EVC2):c.3546G>C (p.Val1182=) rs2108770634
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=) rs1376155432
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=) rs545528367
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
NM_147127.5(EVC2):c.3557+10G>T
NM_147127.5(EVC2):c.3557+15G>A
NM_147127.5(EVC2):c.3557+15G>C
NM_147127.5(EVC2):c.3557+18G>A
NM_147127.5(EVC2):c.3557+18G>T
NM_147127.5(EVC2):c.3557+20T>C
NM_147127.5(EVC2):c.3557+9C>G
NM_147127.5(EVC2):c.3558-12T>C
NM_147127.5(EVC2):c.3558-19A>G
NM_147127.5(EVC2):c.3558-19A>T
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.3558-4G>A rs746098929
NM_147127.5(EVC2):c.3558-4G>T
NM_147127.5(EVC2):c.3558-6C>G
NM_147127.5(EVC2):c.3558-7C>T rs2108767379
NM_147127.5(EVC2):c.3558-9del rs2108767385
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=) rs1485389885
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr) rs752599166
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=) rs754595798
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=) rs1392499941
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer) rs2108767230
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) rs369739594
NM_147127.5(EVC2):c.3659+10G>T
NM_147127.5(EVC2):c.3659+12C>T
NM_147127.5(EVC2):c.3659+13A>G
NM_147127.5(EVC2):c.3659+14C>G
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
NM_147127.5(EVC2):c.3659+20C>T
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.3660-12C>A
NM_147127.5(EVC2):c.3660-12C>T
NM_147127.5(EVC2):c.3660-15T>C
NM_147127.5(EVC2):c.3660-18C>G
NM_147127.5(EVC2):c.3660-18C>T
NM_147127.5(EVC2):c.3660-5T>C rs2108765328
NM_147127.5(EVC2):c.3660-6C>T rs1722062295
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=) rs1722060400
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=) rs1157926409
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=) rs150551872
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=) rs375566943
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=) rs2108765239
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) rs769520928
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=) rs1260164978
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
NM_147127.5(EVC2):c.3774A>T (p.Val1258=) rs2108765124
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.3795A>G (p.Leu1265=)
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=) rs2108764998
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=) rs1722042643
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=) rs2108764900
NM_147127.5(EVC2):c.390dup (p.Ile131fs) rs1253403779
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
NM_147127.5(EVC2):c.399C>T (p.Ser133=) rs2151736611
NM_147127.5(EVC2):c.417A>G (p.Leu139=) rs2151736587
NM_147127.5(EVC2):c.420del (p.Phe140fs)
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
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.437_438dup (p.Thr147Ter)
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.450+10_450+14del rs2151736515
NM_147127.5(EVC2):c.450+12G>A
NM_147127.5(EVC2):c.450+15C>A
NM_147127.5(EVC2):c.450+15C>G
NM_147127.5(EVC2):c.450+15C>T
NM_147127.5(EVC2):c.450+16A>G
NM_147127.5(EVC2):c.450+17A>T rs370958428
NM_147127.5(EVC2):c.450+18T>C
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.450+8T>C
NM_147127.5(EVC2):c.450+9T>C rs2151736518
NM_147127.5(EVC2):c.451-13C>T
NM_147127.5(EVC2):c.451-16T>C
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.451-17T>C
NM_147127.5(EVC2):c.451-18T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.451-7dup
NM_147127.5(EVC2):c.451-8T>C rs1721108385
NM_147127.5(EVC2):c.451-9T>C
NM_147127.5(EVC2):c.45C>G (p.Ala15=) rs1285560156
NM_147127.5(EVC2):c.465A>C (p.Ser155=) rs1001393610
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
NM_147127.5(EVC2):c.489A>G (p.Glu163=) rs2151733929
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
NM_147127.5(EVC2):c.498A>T (p.Val166=)
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile) rs2151733915
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
NM_147127.5(EVC2):c.517C>T (p.Leu173=) rs2151733903
NM_147127.5(EVC2):c.519+1G>A
NM_147127.5(EVC2):c.519+20G>A
NM_147127.5(EVC2):c.519+2T>C rs1721102486
NM_147127.5(EVC2):c.519+2T>G
NM_147127.5(EVC2):c.519+7T>G
NM_147127.5(EVC2):c.520-10_520-8del
NM_147127.5(EVC2):c.520-13C>T
NM_147127.5(EVC2):c.520-14T>G
NM_147127.5(EVC2):c.520-18C>T rs2151731962
NM_147127.5(EVC2):c.520-19C>G
NM_147127.5(EVC2):c.520-19C>T
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.520-4C>G
NM_147127.5(EVC2):c.520-4C>T rs764449545
NM_147127.5(EVC2):c.520-5C>T
NM_147127.5(EVC2):c.520-8T>C rs2151731945
NM_147127.5(EVC2):c.520-9C>G
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
NM_147127.5(EVC2):c.531G>T (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
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.557G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.55C>A (p.Leu19Met) rs1722364834
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
NM_147127.5(EVC2):c.594C>A (p.Ala198=) rs1482138140
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser) rs567458437
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
NM_147127.5(EVC2):c.627T>A (p.Ile209=) rs1415784175
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile) rs2151731712
NM_147127.5(EVC2):c.639C>G (p.Thr213=) rs1323570343
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
NM_147127.5(EVC2):c.648C>T (p.Asp216=) rs1720936758
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) rs745404766
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu) rs1720935592
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
NM_147127.5(EVC2):c.666C>T (p.Thr222=) rs372079686
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) rs999964757
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
NM_147127.5(EVC2):c.684T>G (p.Ala228=) rs2151731613
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
NM_147127.5(EVC2):c.6C>T (p.Asp2=) rs939013967
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
NM_147127.5(EVC2):c.706+12G>A
NM_147127.5(EVC2):c.706+14G>A
NM_147127.5(EVC2):c.706+6A>G
NM_147127.5(EVC2):c.707-10C>G
NM_147127.5(EVC2):c.707-10C>T
NM_147127.5(EVC2):c.707-15C>G
NM_147127.5(EVC2):c.707-15C>T
NM_147127.5(EVC2):c.707-17T>G
NM_147127.5(EVC2):c.707-20A>G
NM_147127.5(EVC2):c.707-20A>T
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.707-4G>T rs113806963
NM_147127.5(EVC2):c.707-6G>A rs2151728173
NM_147127.5(EVC2):c.707-7T>G
NM_147127.5(EVC2):c.714T>C (p.Asp238=) rs977594999
NM_147127.5(EVC2):c.717C>A (p.Ala239=) rs2151728147
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
NM_147127.5(EVC2):c.726C>T (p.Val242=)
NM_147127.5(EVC2):c.72G>C (p.Ala24=) rs2151750115
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser) rs530937415
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu) rs1720636458
NM_147127.5(EVC2):c.735A>G (p.Ala245=) rs2151728120
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
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.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
NM_147127.5(EVC2):c.777C>T (p.Leu259=) rs754899418
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
NM_147127.5(EVC2):c.789C>T (p.Ala263=) rs2151728052
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) rs2151728030
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.810G>T (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.816+13T>C
NM_147127.5(EVC2):c.816+14T>A
NM_147127.5(EVC2):c.816+19T>C
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.816+8C>G rs2151727996
NM_147127.5(EVC2):c.817-10C>A rs750153523
NM_147127.5(EVC2):c.817-12T>C
NM_147127.5(EVC2):c.817-15T>G
NM_147127.5(EVC2):c.817-17C>T
NM_147127.5(EVC2):c.817-19T>C
NM_147127.5(EVC2):c.817-19_817-18del
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.817-5T>A
NM_147127.5(EVC2):c.817-5T>C rs2151724161
NM_147127.5(EVC2):c.817-6T>G
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) rs2151724149
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
NM_147127.5(EVC2):c.829C>T (p.Leu277=) rs2151724132
NM_147127.5(EVC2):c.831G>A (p.Leu277=) rs376314429
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.850del (p.Thr284fs) rs886044525
NM_147127.5(EVC2):c.852A>C (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
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.86del (p.Gly29fs)
NM_147127.5(EVC2):c.870+10A>G rs779971622
NM_147127.5(EVC2):c.870+14C>G
NM_147127.5(EVC2):c.870+15A>G
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_147127.5(EVC2):c.870+20C>G
NM_147127.5(EVC2):c.870+7G>A
NM_147127.5(EVC2):c.871-10G>A
NM_147127.5(EVC2):c.871-10G>T rs1474138185
NM_147127.5(EVC2):c.871-19T>A
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.871-4A>G
NM_147127.5(EVC2):c.871-6C>T
NM_147127.5(EVC2):c.871-9T>C
NM_147127.5(EVC2):c.876_892dup (p.His298fs) rs2108900159
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
NM_147127.5(EVC2):c.879G>T (p.Pro293=) rs150699446
NM_147127.5(EVC2):c.87C>T (p.Gly29=) rs2151750094
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
NM_147127.5(EVC2):c.897A>C (p.Ala299=) rs763124334
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
NM_147127.5(EVC2):c.903G>A (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903del (p.Phe302fs) rs1560208675
NM_147127.5(EVC2):c.90T>C (p.Cys30=) rs1722360264
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
NM_147127.5(EVC2):c.927C>G (p.Ser309=) rs2108900060
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
NM_147127.5(EVC2):c.939C>T (p.Thr313=) rs1322685892
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
NM_147127.5(EVC2):c.96C>T (p.Gly32=) rs1722358000
NM_147127.5(EVC2):c.981G>A (p.Lys327=) rs2108899931
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
NM_147127.5(EVC2):c.987C>T (p.Asn329=) rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.1005C>T (p.Ser335=) rs895165309
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
NM_153717.3(EVC):c.102G>C (p.Leu34=)
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
NM_153717.3(EVC):c.1035T>C (p.Thr345=) rs2152045460
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs) rs745627738
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.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
NM_153717.3(EVC):c.105C>T (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
NM_153717.3(EVC):c.1086del (p.Glu362fs)
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
NM_153717.3(EVC):c.1098+12G>C
NM_153717.3(EVC):c.1098+13G>C
NM_153717.3(EVC):c.1098+16G>A
NM_153717.3(EVC):c.1098+16G>T
NM_153717.3(EVC):c.1098+17C>T
NM_153717.3(EVC):c.1098+18G>T
NM_153717.3(EVC):c.1098+1G>A
NM_153717.3(EVC):c.1098+20G>C
NM_153717.3(EVC):c.1098+20G>T
NM_153717.3(EVC):c.1098+8T>C
NM_153717.3(EVC):c.1099-10C>A rs1465530933
NM_153717.3(EVC):c.1099-14G>A
NM_153717.3(EVC):c.1099-1G>A
NM_153717.3(EVC):c.1099-20C>T
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC rs2152075906
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
NM_153717.3(EVC):c.1099-2A>C
NM_153717.3(EVC):c.1099-4G>A rs2152076013
NM_153717.3(EVC):c.1099-5T>C rs2152076005
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
NM_153717.3(EVC):c.1114del (p.Thr372fs)
NM_153717.3(EVC):c.1116G>A (p.Thr372=) rs781636545
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.1143G>C (p.Val381=) rs2152076257
NM_153717.3(EVC):c.1143G>T (p.Val381=)
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
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.1159C>T (p.Leu387=) rs1577439719
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) rs1560340266
NM_153717.3(EVC):c.1176G>A (p.Glu392=) rs752626166
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
NM_153717.3(EVC):c.117C>A (p.Gly39=)
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.1189C>T (p.Leu397=)
NM_153717.3(EVC):c.1197C>T (p.Ala399=) rs2152076403
NM_153717.3(EVC):c.1200C>A (p.Ile400=) rs750816331
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
NM_153717.3(EVC):c.120C>A (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.120C>G (p.Leu40=)
NM_153717.3(EVC):c.120C>T (p.Leu40=)
NM_153717.3(EVC):c.1210C>T (p.Leu404=) rs2152076460
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
NM_153717.3(EVC):c.1218G>C (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1218G>T (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter) rs2152076522
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
NM_153717.3(EVC):c.123C>A (p.Gly41=)
NM_153717.3(EVC):c.1246C>A (p.Arg416=) rs113986714
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs) rs1730623318
NM_153717.3(EVC):c.1261C>T (p.Leu421=) rs775388162
NM_153717.3(EVC):c.1266C>G (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1266C>T (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
NM_153717.3(EVC):c.126C>G (p.Leu42=)
NM_153717.3(EVC):c.126C>T (p.Leu42=)
NM_153717.3(EVC):c.1287C>T (p.Phe429=) rs2152076737
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer) rs2152076745
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1315+11G>C
NM_153717.3(EVC):c.1315+14A>G
NM_153717.3(EVC):c.1315+16_1315+27del
NM_153717.3(EVC):c.1315+8G>T
NM_153717.3(EVC):c.1316-14T>C
NM_153717.3(EVC):c.1316-20G>A
NM_153717.3(EVC):c.1316-20G>T
NM_153717.3(EVC):c.1316-4C>T
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
NM_153717.3(EVC):c.1344C>T (p.Val448=) rs2152081344
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1407A>G (p.Glu469=) rs755691949
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
NM_153717.3(EVC):c.1425T>C (p.Ala475=) rs2152081868
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
NM_153717.3(EVC):c.1437G>A (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1437G>T (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
NM_153717.3(EVC):c.1464+12C>A
NM_153717.3(EVC):c.1464+12C>G rs753296851
NM_153717.3(EVC):c.1464+19C>T
NM_153717.3(EVC):c.1464+7C>G
NM_153717.3(EVC):c.1464+8A>T rs116236414
NM_153717.3(EVC):c.1465-12T>G
NM_153717.3(EVC):c.1465-13G>A
NM_153717.3(EVC):c.1465-15_1465-14del
NM_153717.3(EVC):c.1465-15_1465-14dup
NM_153717.3(EVC):c.1465-18C>T
NM_153717.3(EVC):c.1465-4A>G
NM_153717.3(EVC):c.1465-5C>A
NM_153717.3(EVC):c.1465-7C>T
NM_153717.3(EVC):c.1465-8C>T
NM_153717.3(EVC):c.1465-9T>C
NM_153717.3(EVC):c.1473T>C (p.His491=)
NM_153717.3(EVC):c.1479C>T (p.Val493=)
NM_153717.3(EVC):c.147C>A (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1494del (p.Arg498fs) rs2152094799
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter) rs373088008
NM_153717.3(EVC):c.150G>C (p.Ala50=) rs1257185745
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
NM_153717.3(EVC):c.1524G>A (p.Glu508=) rs2152094941
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.1531A>C (p.Arg511=) rs2152094988
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.155del (p.Arg52fs) rs1439712140
NM_153717.3(EVC):c.1563+10C>T rs2152095141
NM_153717.3(EVC):c.1563+13T>C
NM_153717.3(EVC):c.1563+14G>A
NM_153717.3(EVC):c.1563+15T>G
NM_153717.3(EVC):c.1563+16G>A
NM_153717.3(EVC):c.1563+7G>A
NM_153717.3(EVC):c.1564-10T>G
NM_153717.3(EVC):c.1564-15G>T
NM_153717.3(EVC):c.1564-19C>G
NM_153717.3(EVC):c.1564-7G>C
NM_153717.3(EVC):c.1564-7G>T
NM_153717.3(EVC):c.1564-9C>T rs1361893356
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
NM_153717.3(EVC):c.1572C>T (p.Tyr524=) rs1735952327
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
NM_153717.3(EVC):c.1593C>T (p.Phe531=) rs771775185
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1605G>A (p.Val535=)
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
NM_153717.3(EVC):c.1611C>T (p.Ala537=) rs765193502
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
NM_153717.3(EVC):c.1618del (p.Leu540fs)
NM_153717.3(EVC):c.1623G>A (p.Gln541=) rs2152288778
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
NM_153717.3(EVC):c.1629C>G (p.Leu543=) rs1735963741
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
NM_153717.3(EVC):c.1635C>T (p.Gly545=) rs781699320
NM_153717.3(EVC):c.1641T>C (p.Thr547=) rs2152288859
NM_153717.3(EVC):c.1647C>A (p.Leu549=) rs756674302
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
NM_153717.3(EVC):c.1650C>A (p.Pro550=) rs1187336928
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1652del (p.Pro551fs) rs1312383000
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1662T>C (p.Cys554=) rs2152288989
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1683C>A (p.Val561=)
NM_153717.3(EVC):c.1683C>G (p.Val561=) rs913909906
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter) rs539010490
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1698C>G (p.Ala566=) rs911132556
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1737G>A (p.Gln579=) rs768788576
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
NM_153717.3(EVC):c.174+11C>G
NM_153717.3(EVC):c.174+12G>A
NM_153717.3(EVC):c.174+14G>A
NM_153717.3(EVC):c.174+16_174+30del
NM_153717.3(EVC):c.174+1G>T rs2151768710
NM_153717.3(EVC):c.174+7C>G
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.174+8G>C
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
NM_153717.3(EVC):c.1746C>A (p.Leu582=) rs1029833383
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs) rs2152289369
NM_153717.3(EVC):c.175-19C>G
NM_153717.3(EVC):c.175-19C>T
NM_153717.3(EVC):c.175-20T>C
NM_153717.3(EVC):c.175-9G>C rs753317536
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1776+2T>C
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1776+8C>G rs761163369
NM_153717.3(EVC):c.1776+8C>T
NM_153717.3(EVC):c.1776+9A>G rs2152289531
NM_153717.3(EVC):c.1777-13G>C
NM_153717.3(EVC):c.1777-15C>G
NM_153717.3(EVC):c.1777-17C>G
NM_153717.3(EVC):c.1777-19C>T
NM_153717.3(EVC):c.1777-2A>C
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1777-9C>G
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1779G>A (p.Val593=)
NM_153717.3(EVC):c.1783_1886+40del rs2152326431
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
NM_153717.3(EVC):c.1788G>A (p.Glu596=) rs2152326451
NM_153717.3(EVC):c.1791G>A (p.Glu597=) rs1577599969
NM_153717.3(EVC):c.1800G>C (p.Leu600=) rs1713204688
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522
NM_153717.3(EVC):c.1803C>T (p.Ser601=) rs2152326514
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
NM_153717.3(EVC):c.1818_1821del (p.His607fs) rs2152326544
NM_153717.3(EVC):c.1821C>T (p.His607=) rs779056864
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
NM_153717.3(EVC):c.1851C>T (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
NM_153717.3(EVC):c.1857C>G (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1857C>T (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs) rs2152326770
NM_153717.3(EVC):c.1886+11C>T
NM_153717.3(EVC):c.1886+13C>T
NM_153717.3(EVC):c.1886+16T>C
NM_153717.3(EVC):c.1886+17G>C
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1886+5G>A rs794726665
NM_153717.3(EVC):c.1886+7A>G rs2152326793
NM_153717.3(EVC):c.1887-19T>G
NM_153717.3(EVC):c.1887-2A>T
NM_153717.3(EVC):c.1887-4A>C rs2152340153
NM_153717.3(EVC):c.1887-5C>T
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1890C>T (p.Ser630=) rs2152340181
NM_153717.3(EVC):c.1893G>A (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1893G>T (p.Thr631=) rs1017858503
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.1896G>C (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1900del (p.Val634fs)
NM_153717.3(EVC):c.1905G>T (p.Leu635=) rs777640312
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1917C>T (p.Asp639=) rs1242667817
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
NM_153717.3(EVC):c.1926G>A (p.Leu642=) rs1191617444
NM_153717.3(EVC):c.1935C>T (p.Ala645=) rs1412137397
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
NM_153717.3(EVC):c.195G>T (p.Leu65=)
NM_153717.3(EVC):c.1965C>A (p.Ala655=) rs757251724
NM_153717.3(EVC):c.1966C>T (p.Leu656=) rs2152340488
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
NM_153717.3(EVC):c.1971C>T (p.Ala657=) rs2152340517
NM_153717.3(EVC):c.1971del (p.Thr658fs) rs2152340509
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
NM_153717.3(EVC):c.198C>T (p.Leu66=)
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.1998G>A (p.Gly666=) rs772759204
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2004G>A (p.Lys668=) rs759187395
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
NM_153717.3(EVC):c.2023C>A (p.Arg675=) rs372267517
NM_153717.3(EVC):c.2025G>T (p.Arg675=) rs1714120141
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
NM_153717.3(EVC):c.205T>C (p.Leu69=)
NM_153717.3(EVC):c.2067C>T (p.Asp689=) rs768403488
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
NM_153717.3(EVC):c.2076G>A (p.Gln692=) rs1714131544
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
NM_153717.3(EVC):c.207G>A (p.Leu69=) rs2151841946
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2097+10G>T
NM_153717.3(EVC):c.2097+12A>G rs112766640
NM_153717.3(EVC):c.2097+1G>A
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-13C>G
NM_153717.3(EVC):c.2098-20C>T
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2098-5C>G rs747808287
NM_153717.3(EVC):c.2098-7C>G rs1448028337
NM_153717.3(EVC):c.2098-8C>T rs1560427583
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
NM_153717.3(EVC):c.2110C>T (p.Leu704=) rs1714403171
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
NM_153717.3(EVC):c.213T>C (p.Ser71=)
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs) rs2152345583
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) rs1714412021
NM_153717.3(EVC):c.2152C>A (p.Arg718=) rs778287269
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153717.3(EVC):c.2154G>A (p.Arg718=) rs1714415040
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
NM_153717.3(EVC):c.2155C>T (p.Leu719=) rs1236823435
NM_153717.3(EVC):c.2157G>A (p.Leu719=) rs1024015517
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.2196G>A (p.Val732=)
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
NM_153717.3(EVC):c.219G>T (p.Ala73=)
NM_153717.3(EVC):c.21C>G (p.Ala7=)
NM_153717.3(EVC):c.2208G>A (p.Leu736=) rs2152345788
NM_153717.3(EVC):c.2217C>T (p.His739=) rs2152345808
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
NM_153717.3(EVC):c.222G>A (p.Gln74=)
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
NM_153717.3(EVC):c.2256A>G (p.Ala752=) rs746682279
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
NM_153717.3(EVC):c.225C>A (p.Thr75=)
NM_153717.3(EVC):c.225C>G (p.Thr75=)
NM_153717.3(EVC):c.2262T>C (p.Asn754=) rs1714441484
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
NM_153717.3(EVC):c.2271C>A (p.Thr757=) rs918804667
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.2289C>T (p.Asp763=) rs2152346031
NM_153717.3(EVC):c.228C>G (p.Pro76=)
NM_153717.3(EVC):c.2295T>C (p.Asp765=) rs2152346059
NM_153717.3(EVC):c.2304+10G>C
NM_153717.3(EVC):c.2304+10G>T
NM_153717.3(EVC):c.2304+15_2304+16del
NM_153717.3(EVC):c.2304+19C>T
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2304+8C>G
NM_153717.3(EVC):c.2304+9T>A rs2152346132
NM_153717.3(EVC):c.2305-13T>C
NM_153717.3(EVC):c.2305-15C>T
NM_153717.3(EVC):c.2305-17T>C
NM_153717.3(EVC):c.2305-19C>A
NM_153717.3(EVC):c.2305-19C>T
NM_153717.3(EVC):c.2305-8_2305-7delinsCT rs2152361700
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
NM_153717.3(EVC):c.2311C>T (p.Leu771=) rs763546632
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2328G>C (p.Val776=) rs913233513
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
NM_153717.3(EVC):c.2361C>T (p.Ser787=) rs1412709981
NM_153717.3(EVC):c.2365del (p.Leu789fs)
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2370G>A (p.Val790=)
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
NM_153717.3(EVC):c.2376G>C (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
NM_153717.3(EVC):c.241dup (p.Ser81fs)
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
NM_153717.3(EVC):c.2434C>T (p.Leu812=) rs1161329338
NM_153717.3(EVC):c.243C>G (p.Ser81=)
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>G
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+13C>G
NM_153717.3(EVC):c.2449+13C>T
NM_153717.3(EVC):c.2449+14C>A rs374386522
NM_153717.3(EVC):c.2449+14C>G rs374386522
NM_153717.3(EVC):c.2449+14C>T rs374386522
NM_153717.3(EVC):c.2449+15C>G
NM_153717.3(EVC):c.2449+15_2449+16insA
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C
NM_153717.3(EVC):c.2449+5G>A
NM_153717.3(EVC):c.2449+9C>A
NM_153717.3(EVC):c.2450-16G>A
NM_153717.3(EVC):c.2450-18C>T
NM_153717.3(EVC):c.2450-4C>T rs1273594861
NM_153717.3(EVC):c.2450-7_2450-5dup rs2152375058
NM_153717.3(EVC):c.2450-8T>C rs1715583083
NM_153717.3(EVC):c.2454G>A (p.Glu818=) rs775144960
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2463A>G (p.Glu821=) rs762865760
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
NM_153717.3(EVC):c.2484G>A (p.Lys828=) rs2152375180
NM_153717.3(EVC):c.2487A>G (p.Gln829=) rs1439220731
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter) rs2152375194
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
NM_153717.3(EVC):c.2499C>T (p.Asn833=) rs2152375210
NM_153717.3(EVC):c.24C>T (p.Cys8=)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
NM_153717.3(EVC):c.2520G>C (p.Thr840=) rs187406722
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
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.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2547G>A (p.Gln849=) rs2152375378
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
NM_153717.3(EVC):c.2550G>T (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2553C>T (p.Val851=) rs2152375406
NM_153717.3(EVC):c.2556C>T (p.His852=)
NM_153717.3(EVC):c.2561+10C>A
NM_153717.3(EVC):c.2561+11A>C
NM_153717.3(EVC):c.2561+12A>C
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+13C>A
NM_153717.3(EVC):c.2561+18G>A
NM_153717.3(EVC):c.2561+1dup rs2152375437
NM_153717.3(EVC):c.2561+8C>T
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-18del
NM_153717.3(EVC):c.2562-19C>G
NM_153717.3(EVC):c.2562-20G>T
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2562-4C>T rs60082311
NM_153717.3(EVC):c.2562-5C>A rs747812027
NM_153717.3(EVC):c.2562-6C>T rs1480753304
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
NM_153717.3(EVC):c.2580G>A (p.Lys860=) rs1264987350
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
NM_153717.3(EVC):c.2592C>G (p.Ala864=) rs2152387719
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
NM_153717.3(EVC):c.2607C>T (p.His869=) rs774624157
NM_153717.3(EVC):c.2610G>A (p.Gln870=) rs2152387774
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
NM_153717.3(EVC):c.2619T>A (p.Arg873=) rs1716320466
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
NM_153717.3(EVC):c.2622G>T (p.Leu874=) rs1399378301
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer) rs2152387847
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
NM_153717.3(EVC):c.264A>G (p.Arg88=) rs1176423250
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
NM_153717.3(EVC):c.2664A>G (p.Glu888=) rs1161036004
NM_153717.3(EVC):c.2676G>A (p.Glu892=) rs761201243
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.267_274del (p.Glu89fs) rs2151842413
NM_153717.3(EVC):c.2685A>G (p.Leu895=) rs2152387981
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
NM_153717.3(EVC):c.2688+11C>A
NM_153717.3(EVC):c.2688+11C>T
NM_153717.3(EVC):c.2688+19G>A
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G
NM_153717.3(EVC):c.2688+8_2688+13del rs2152388021
NM_153717.3(EVC):c.2689-11_2689-8del
NM_153717.3(EVC):c.2689-16T>C
NM_153717.3(EVC):c.2689-19C>T
NM_153717.3(EVC):c.2689-20C>A
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter) rs1039706882
NM_153717.3(EVC):c.2705del (p.Phe902fs) rs2152391901
NM_153717.3(EVC):c.2709C>A (p.Ile903=) rs774968451
NM_153717.3(EVC):c.2709C>T (p.Ile903=) rs774968451
NM_153717.3(EVC):c.270G>A (p.Val90=)
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
NM_153717.3(EVC):c.2733A>C (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
NM_153717.3(EVC):c.2739C>G (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2739C>T (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
NM_153717.3(EVC):c.2782+12A>G
NM_153717.3(EVC):c.2782+13T>A rs2152392158
NM_153717.3(EVC):c.2782+15C>T
NM_153717.3(EVC):c.2782+15_2782+18dup
NM_153717.3(EVC):c.2782+19A>T
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.2782+7C>A rs1241416600
NM_153717.3(EVC):c.2782+8A>G rs760124824
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2783-11G>A
NM_153717.3(EVC):c.2783-11del
NM_153717.3(EVC):c.2783-3C>A
NM_153717.3(EVC):c.2783-4A>G
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
NM_153717.3(EVC):c.279G>C (p.Ser93=)
NM_153717.3(EVC):c.27G>A (p.Lys9=)
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
NM_153717.3(EVC):c.2817G>T (p.Leu939=) rs1716697966
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
NM_153717.3(EVC):c.2835C>T (p.Asp945=) rs2152394497
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
NM_153717.3(EVC):c.2842del (p.Val948fs)
NM_153717.3(EVC):c.2844G>T (p.Val948=)
NM_153717.3(EVC):c.2853T>C (p.Asn951=) rs371561252
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
NM_153717.3(EVC):c.2862T>A (p.Leu954=) rs2152394578
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2865C>T (p.Ala955=) rs1333691963
NM_153717.3(EVC):c.286A>T (p.Lys96Ter) rs2151842550
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.2883A>G (p.Ser961=) rs1248488328
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
NM_153717.3(EVC):c.2889A>G (p.Ser963=) rs2152394684
NM_153717.3(EVC):c.288G>A (p.Lys96=) rs1577324357
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
NM_153717.3(EVC):c.2894+11G>T
NM_153717.3(EVC):c.2894+12C>T
NM_153717.3(EVC):c.2894+14C>T
NM_153717.3(EVC):c.2894+15C>T
NM_153717.3(EVC):c.2894+16G>A
NM_153717.3(EVC):c.2894+18A>T
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2894+7C>G rs2152394737
NM_153717.3(EVC):c.2894+8T>C
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-12C>G
NM_153717.3(EVC):c.2895-12_2895-10del
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.2895-16del rs761097524
NM_153717.3(EVC):c.2895-20C>A
NM_153717.3(EVC):c.2895-20C>T
NM_153717.3(EVC):c.2895-8_2895-4del
NM_153717.3(EVC):c.2898C>T (p.Ser966=) rs1716824868
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
NM_153717.3(EVC):c.2916A>G (p.Gln972=) rs1285231247
NM_153717.3(EVC):c.2922T>C (p.Ser974=) rs2152396440
NM_153717.3(EVC):c.2925A>G (p.Glu975=) rs1399872123
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2934C>T (p.Asp978=) rs1241792860
NM_153717.3(EVC):c.2946A>G (p.Ser982=) rs1388651029
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
NM_153717.3(EVC):c.2976G>A (p.Leu992=) rs1577673719
NM_153717.3(EVC):c.2979G>A (p.Ter993=) rs767957964
NM_153717.3(EVC):c.297T>G (p.Val99=)
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.300+14T>G
NM_153717.3(EVC):c.300+17T>G
NM_153717.3(EVC):c.300+19T>C
NM_153717.3(EVC):c.300+1G>T
NM_153717.3(EVC):c.300+20T>C
NM_153717.3(EVC):c.300+24_300+27del
NM_153717.3(EVC):c.300+3A>G
NM_153717.3(EVC):c.300+7T>A
NM_153717.3(EVC):c.301-10dup
NM_153717.3(EVC):c.301-13C>G
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.301-7C>T rs764925850
NM_153717.3(EVC):c.301-9C>G rs1726395310
NM_153717.3(EVC):c.312G>T (p.Pro104=)
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
NM_153717.3(EVC):c.333A>G (p.Thr111=)
NM_153717.3(EVC):c.333A>T (p.Thr111=)
NM_153717.3(EVC):c.338dup (p.Ala114fs) rs2151919221
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.354A>G (p.Lys118=) rs2151919308
NM_153717.3(EVC):c.360C>A (p.Ile120=) rs2151919327
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.369del (p.Asn124fs)
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
NM_153717.3(EVC):c.37_38del (p.Arg13fs) rs1722986802
NM_153717.3(EVC):c.384+10_384+12dup rs2151919610
NM_153717.3(EVC):c.384+10del
NM_153717.3(EVC):c.384+12G>C rs1192867917
NM_153717.3(EVC):c.384+15C>G
NM_153717.3(EVC):c.385-13A>G
NM_153717.3(EVC):c.385-1G>A
NM_153717.3(EVC):c.385-20G>A
NM_153717.3(EVC):c.385-20G>T
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.385-6C>T rs1167563102
NM_153717.3(EVC):c.385-7A>T
NM_153717.3(EVC):c.390G>T (p.Leu130=) rs2151934901
NM_153717.3(EVC):c.393C>G (p.Ala131=)
NM_153717.3(EVC):c.393C>T (p.Ala131=) rs374197757
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.399C>T (p.Gly133=)
NM_153717.3(EVC):c.39G>A (p.Arg13=) rs1479357518
NM_153717.3(EVC):c.402C>T (p.Ser134=)
NM_153717.3(EVC):c.405C>T (p.Ser135=) rs2151934982
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
NM_153717.3(EVC):c.411G>T (p.Pro137=)
NM_153717.3(EVC):c.414T>C (p.Ser138=)
NM_153717.3(EVC):c.417G>T (p.Leu139=)
NM_153717.3(EVC):c.42G>A (p.Leu14=) rs1213156946
NM_153717.3(EVC):c.435G>A (p.Gln145=)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.438T>C (p.Ala146=)
NM_153717.3(EVC):c.438T>G (p.Ala146=) rs200690823
NM_153717.3(EVC):c.441T>G (p.Val147=) rs1192506036
NM_153717.3(EVC):c.456G>C (p.Pro152=)
NM_153717.3(EVC):c.456G>T (p.Pro152=)
NM_153717.3(EVC):c.459A>G (p.Val153=)
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.465C>G (p.Ala155=) rs146706283
NM_153717.3(EVC):c.477C>T (p.Ser159=) rs2151935441
NM_153717.3(EVC):c.478_481del (p.Ser160fs) rs2151935449
NM_153717.3(EVC):c.480T>C (p.Ser160=) rs2151935461
NM_153717.3(EVC):c.489C>T (p.Ser163=)
NM_153717.3(EVC):c.48G>A (p.Leu16=)
NM_153717.3(EVC):c.492G>A (p.Leu164=)
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
NM_153717.3(EVC):c.507G>A (p.Lys169=)
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
NM_153717.3(EVC):c.528C>G (p.Ser176=)
NM_153717.3(EVC):c.528C>T (p.Ser176=) rs532386294
NM_153717.3(EVC):c.528del (p.Ser177fs) rs1381525157
NM_153717.3(EVC):c.531C>T (p.Ser177=) rs542910336
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
NM_153717.3(EVC):c.537C>T (p.His179=)
NM_153717.3(EVC):c.539C>A (p.Ser180Ter) rs762136199
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
NM_153717.3(EVC):c.540G>T (p.Ser180=)
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
NM_153717.3(EVC):c.54G>C (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.54G>T (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.564C>G (p.Leu188=)
NM_153717.3(EVC):c.568dup (p.Arg190fs)
NM_153717.3(EVC):c.56_174+42del
NM_153717.3(EVC):c.573C>G (p.Thr191=)
NM_153717.3(EVC):c.579C>T (p.Leu193=)
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer) rs2151935987
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.594C>T (p.Phe198=) rs1224007808
NM_153717.3(EVC):c.596del (p.Pro199fs)
NM_153717.3(EVC):c.597T>C (p.Pro199=)
NM_153717.3(EVC):c.603G>A (p.Val201=) rs2151936107
NM_153717.3(EVC):c.604C>T (p.Leu202=)
NM_153717.3(EVC):c.609C>T (p.Ala203=) rs2151936137
NM_153717.3(EVC):c.60G>C (p.Ala20=)
NM_153717.3(EVC):c.612C>A (p.Cys204Ter) rs553634958
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
NM_153717.3(EVC):c.617+11C>T
NM_153717.3(EVC):c.617+12G>A
NM_153717.3(EVC):c.617+14G>T
NM_153717.3(EVC):c.617+15C>A
NM_153717.3(EVC):c.617+15C>T
NM_153717.3(EVC):c.617+18T>C
NM_153717.3(EVC):c.617+18T>G
NM_153717.3(EVC):c.617+19G>A
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+20G>T
NM_153717.3(EVC):c.617+2T>A
NM_153717.3(EVC):c.618-13T>A
NM_153717.3(EVC):c.618-14A>C rs767274362
NM_153717.3(EVC):c.618-15C>T
NM_153717.3(EVC):c.618-18T>G
NM_153717.3(EVC):c.618-19T>C
NM_153717.3(EVC):c.618-2A>G
NM_153717.3(EVC):c.618-9A>T rs2151945814
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
NM_153717.3(EVC):c.630C>T (p.Asp210=) rs1339867475
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
NM_153717.3(EVC):c.633G>T (p.Leu211=)
NM_153717.3(EVC):c.635del (p.Cys212fs) rs2151945937
NM_153717.3(EVC):c.636T>C (p.Cys212=) rs2151945944
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
NM_153717.3(EVC):c.642C>T (p.Tyr214=) rs2151945971
NM_153717.3(EVC):c.64C>A (p.Arg22=) rs1267604048
NM_153717.3(EVC):c.651C>T (p.His217=)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.666G>A (p.Leu222=) rs1560299816
NM_153717.3(EVC):c.66G>A (p.Arg22=)
NM_153717.3(EVC):c.66G>C (p.Arg22=)
NM_153717.3(EVC):c.673del (p.Asp225fs) rs2151946081
NM_153717.3(EVC):c.678G>A (p.Thr226=)
NM_153717.3(EVC):c.678G>C (p.Thr226=) rs772621806
NM_153717.3(EVC):c.681A>G (p.Ala227=)
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.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.69G>A (p.Pro23=) rs1722996127
NM_153717.3(EVC):c.700A>G (p.Met234Val)
NM_153717.3(EVC):c.702+12T>C
NM_153717.3(EVC):c.702+13G>A
NM_153717.3(EVC):c.702+15T>C
NM_153717.3(EVC):c.702+17G>A
NM_153717.3(EVC):c.702+18C>T
NM_153717.3(EVC):c.702+9A>T rs1415648336
NM_153717.3(EVC):c.703-10T>G rs1231822006
NM_153717.3(EVC):c.703-13T>A
NM_153717.3(EVC):c.703-15C>T
NM_153717.3(EVC):c.703-17T>C
NM_153717.3(EVC):c.703-19T>G
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.703-20C>T
NM_153717.3(EVC):c.703-5_703-4dup
NM_153717.3(EVC):c.703-7G>A rs2152000339
NM_153717.3(EVC):c.703-8G>C
NM_153717.3(EVC):c.708dup (p.Ile237fs)
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.720dup (p.Lys241Ter) rs1553871764
NM_153717.3(EVC):c.721A>T (p.Lys241Ter) rs2152000498
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
NM_153717.3(EVC):c.729C>T (p.Cys243=)
NM_153717.3(EVC):c.72G>C (p.Ala24=)
NM_153717.3(EVC):c.72G>T (p.Ala24=)
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.732C>T (p.Leu244=) rs1035355173
NM_153717.3(EVC):c.734T>A (p.Leu245His)
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
NM_153717.3(EVC):c.747T>A (p.Pro249=)
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.75C>G (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.75C>T (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.765T>C (p.Asp255=) rs2152000814
NM_153717.3(EVC):c.768A>G (p.Glu256=) rs2152000830
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
NM_153717.3(EVC):c.784del (p.Leu262fs) rs1560315890
NM_153717.3(EVC):c.784dup (p.Leu262fs)
NM_153717.3(EVC):c.786T>C (p.Leu262=)
NM_153717.3(EVC):c.788C>G (p.Ser263Ter) rs2152001027
NM_153717.3(EVC):c.792A>G (p.Lys264=) rs2152001052
NM_153717.3(EVC):c.801+12A>G
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.801+14C>A
NM_153717.3(EVC):c.801+16A>T
NM_153717.3(EVC):c.801+16_801+17del
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>C
NM_153717.3(EVC):c.802-12_802-8del rs753304898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-18T>C
NM_153717.3(EVC):c.802-19T>C
NM_153717.3(EVC):c.802-2A>G
NM_153717.3(EVC):c.802-6C>T rs773954366
NM_153717.3(EVC):c.802-9C>A rs1309092985
NM_153717.3(EVC):c.802-9C>T rs1309092985
NM_153717.3(EVC):c.807G>A (p.Leu269=)
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.813A>G (p.Glu271=)
NM_153717.3(EVC):c.81G>T (p.Leu27=) rs2151767494
NM_153717.3(EVC):c.822G>A (p.Lys274=)
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
NM_153717.3(EVC):c.829C>T (p.Gln277Ter) rs1251648799
NM_153717.3(EVC):c.82C>T (p.Leu28=)
NM_153717.3(EVC):c.831G>A (p.Gln277=) rs2152027341
NM_153717.3(EVC):c.834C>T (p.Val278=) rs575589201
NM_153717.3(EVC):c.843A>G (p.Ser281=) rs2152027396
NM_153717.3(EVC):c.846C>T (p.Asn282=)
NM_153717.3(EVC):c.84G>A (p.Leu28=)
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.858G>T (p.Ser286=)
NM_153717.3(EVC):c.861G>A (p.Gly287=)
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
NM_153717.3(EVC):c.870C>T (p.Asp290=)
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
NM_153717.3(EVC):c.873T>A (p.Ser291=) rs1577407384
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
NM_153717.3(EVC):c.87C>G (p.Ala29=)
NM_153717.3(EVC):c.87C>T (p.Ala29=)
NM_153717.3(EVC):c.891T>A (p.Ala297=)
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.903G>A (p.Lys301=) rs2152027698
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs) rs1729197529
NM_153717.3(EVC):c.90C>T (p.Pro30=)
NM_153717.3(EVC):c.90del (p.Ala31fs) rs1196950486
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NM_153717.3(EVC):c.928C>T (p.Leu310=) rs145300726
NM_153717.3(EVC):c.930A>G (p.Leu310=) rs776792609
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
NM_153717.3(EVC):c.936T>C (p.Asp312=) rs1294633111
NM_153717.3(EVC):c.939+10_939+11delinsGT rs2152027986
NM_153717.3(EVC):c.939+11G>A
NM_153717.3(EVC):c.939+13C>A
NM_153717.3(EVC):c.939+16T>A
NM_153717.3(EVC):c.939+16T>C
NM_153717.3(EVC):c.939+17C>T
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.939+20T>A
NM_153717.3(EVC):c.939+9_939+10inv
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.93C>T (p.Ala31=) rs866226288
NM_153717.3(EVC):c.940-14T>C
NM_153717.3(EVC):c.940-150T>G rs576076928
NM_153717.3(EVC):c.940-15G>A
NM_153717.3(EVC):c.940-15G>T
NM_153717.3(EVC):c.940-6T>C rs2152044901
NM_153717.3(EVC):c.940-9A>G rs1241925243
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916
NM_153717.3(EVC):c.945A>G (p.Glu315=) rs1057523442
NM_153717.3(EVC):c.957A>G (p.Lys319=) rs2152045024
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
NM_153717.3(EVC):c.96G>A (p.Val32=) rs2151767783
NM_153717.3(EVC):c.973C>T (p.Gln325Ter) rs1729654379
NM_153717.3(EVC):c.986_987del (p.Val329fs)
NM_153717.3(EVC):c.987G>A (p.Val329=)
NM_153717.3(EVC):c.990C>T (p.Asp330=) rs2152045173
NM_153717.3(EVC):c.999G>A (p.Lys333=) rs1729659333
NM_153717.3(EVC):c.9C>A (p.Arg3=) rs1330946337
NM_173660.5(DOK7):c.100+11C>G
NM_173660.5(DOK7):c.100+11C>T
NM_173660.5(DOK7):c.100+12G>A
NM_173660.5(DOK7):c.100+14G>C
NM_173660.5(DOK7):c.100+15C>A
NM_173660.5(DOK7):c.100+17G>A
NM_173660.5(DOK7):c.100+21_100+36del
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn) rs1467473001
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn) rs2109418165
NM_173660.5(DOK7):c.101-12C>T
NM_173660.5(DOK7):c.101-15C>T
NM_173660.5(DOK7):c.101-17G>A
NM_173660.5(DOK7):c.101-18C>T
NM_173660.5(DOK7):c.101-20G>A
NM_173660.5(DOK7):c.101-8C>G
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala) rs1728608485
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
NM_173660.5(DOK7):c.1026T>G (p.Thr342=) rs1437244628
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly) rs2109418322
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
NM_173660.5(DOK7):c.1034A>G (p.His345Arg) rs1577182623
NM_173660.5(DOK7):c.1035C>T (p.His345=)
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys) rs568530359
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn) rs1728615373
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg) rs2109418499
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val) rs1037224921
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu) rs368512847
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val) rs368512847
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
NM_173660.5(DOK7):c.1068G>T (p.Ala356=) rs372407972
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs) rs1560232833
NM_173660.5(DOK7):c.1080G>T (p.Leu360=) rs2109418743
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu) rs763666945
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu) rs201304841
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala) rs1728624628
NM_173660.5(DOK7):c.111G>A (p.Leu37=) rs2109335875
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp) rs766061571
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly) rs766061571
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val) rs766061571
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala) rs1728631866
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn) rs1728632467
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro) rs1728632885
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr) rs149525610
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser) rs149525610
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu) rs753513427
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
NM_173660.5(DOK7):c.1179C>G (p.Val393=) rs138797230
NM_173660.5(DOK7):c.1179C>T (p.Val393=) rs138797230
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
NM_173660.5(DOK7):c.1188G>A (p.Gln396=) rs1577183241
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro) rs370039804
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) rs544278158
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
NM_173660.5(DOK7):c.1227C>A (p.Arg409=) rs762828158
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg) rs547633164
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
NM_173660.5(DOK7):c.1236C>T (p.Cys412=) rs556834250
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg) rs2109420373
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr) rs150497723
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
NM_173660.5(DOK7):c.1263C>A (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
NM_173660.5(DOK7):c.1263C>T (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1264del (p.Ser422fs) rs1258346283
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1269G>A (p.Gln423=) rs1247286969
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
NM_173660.5(DOK7):c.1272C>T (p.Gly424=) rs1728651445
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
NM_173660.5(DOK7):c.1278C>G (p.Pro426=) rs139468087
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg) rs377555406
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
NM_173660.5(DOK7):c.1287T>C (p.Ser429=) rs1255756275
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
NM_173660.5(DOK7):c.1296G>A (p.Arg432=) rs1288310207
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>G (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>T (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser) rs201392182
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg) rs201392182
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp) rs1458938692
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met) rs376805794
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser) rs753026831
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg) rs778266118
NM_173660.5(DOK7):c.1323G>A (p.Gly441=) rs755615582
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser) rs748946433
NM_173660.5(DOK7):c.1329C>G (p.Pro443=) rs768213796
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del) rs779508279
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
NM_173660.5(DOK7):c.1356G>C (p.Arg452=) rs1728663876
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
NM_173660.5(DOK7):c.1363G>A (p.Val455Met) rs765823074
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle) rs1728665309
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp) rs1455617490
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln) rs745941308
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter) rs745941308
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp) rs1577148448
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys) rs781665230
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) rs762148551
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) rs1728671600
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
NM_173660.5(DOK7):c.1416C>T (p.Gly472=) rs769793776
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp) rs2109422552
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg) rs140519765
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu) rs767980190
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) rs767980190
NM_173660.5(DOK7):c.1457del (p.Pro486fs) rs1577184455
NM_173660.5(DOK7):c.1458G>T (p.Pro486=) rs763843300
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr) rs751342277
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro) rs751342277
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp) rs77513082
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp) rs768805841
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala) rs373205256
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg) rs751223916
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn) rs1560234858
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile) rs1041024260
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser) rs779975668
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
NM_173660.5(DOK7):c.1508dup (p.Pro504fs) rs773220689
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr) rs1560234920
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp) rs1553850437
NM_173660.5(DOK7):c.159G>A (p.Glu53=) rs1008787863
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu) rs201818140
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly) rs550137245
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys) rs550137245
NM_173660.5(DOK7):c.168C>T (p.Ser56=) rs2109336068
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe) rs771583740
NM_173660.5(DOK7):c.220= (p.Leu74=) rs4325970
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys) rs940346413
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
NM_173660.5(DOK7):c.230C>T (p.Thr77Met) rs940346413
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
NM_173660.5(DOK7):c.241G>C (p.Val81Leu) rs763046127
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
NM_173660.5(DOK7):c.264G>T (p.Met88Ile) rs1244768842
NM_173660.5(DOK7):c.27C>A (p.Gly9=) rs768798756
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
NM_173660.5(DOK7):c.288C>T (p.Ala96=) rs890259305
NM_173660.5(DOK7):c.289A>G (p.Met97Val) rs2109336403
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser) rs1726898976
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter) rs2109336441
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
NM_173660.5(DOK7):c.30G>A (p.Gln10=) rs1341926638
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
NM_173660.5(DOK7):c.331+10G>A
NM_173660.5(DOK7):c.331+11GGGGCC[3] rs745546967
NM_173660.5(DOK7):c.331+14G>T
NM_173660.5(DOK7):c.331+15C>G
NM_173660.5(DOK7):c.331+15_331+16del
NM_173660.5(DOK7):c.331+17G>A
NM_173660.5(DOK7):c.331+18G>A
NM_173660.5(DOK7):c.331+20_331+25del
NM_173660.5(DOK7):c.331+4_331+5del rs2109336551
NM_173660.5(DOK7):c.331+7G>A
NM_173660.5(DOK7):c.332-107_332-4del rs1727060359
NM_173660.5(DOK7):c.332-12G>A
NM_173660.5(DOK7):c.332-12G>C
NM_173660.5(DOK7):c.332-15C>T
NM_173660.5(DOK7):c.332-17G>A
NM_173660.5(DOK7):c.332-18T>A
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.332-1G>C
NM_173660.5(DOK7):c.332-1G>T rs1490214819
NM_173660.5(DOK7):c.332-2A>G
NM_173660.5(DOK7):c.332-4G>C
NM_173660.5(DOK7):c.332-7C>A
NM_173660.5(DOK7):c.332-95_332-18del
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
NM_173660.5(DOK7):c.333G>A (p.Val111=) rs1197491516
NM_173660.5(DOK7):c.336T>C (p.His112=)
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr) rs951094929
NM_173660.5(DOK7):c.363C>T (p.Gly121=) rs1427150506
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
NM_173660.5(DOK7):c.366C>G (p.Thr122=) rs1365607498
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
NM_173660.5(DOK7):c.394C>A (p.His132Asn) rs755692930
NM_173660.5(DOK7):c.396C>G (p.His132Gln) rs779798129
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
NM_173660.5(DOK7):c.399C>T (p.Leu133=) rs2109343497
NM_173660.5(DOK7):c.411C>A (p.Val137=)
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.429del (p.Asp143fs)
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
NM_173660.5(DOK7):c.43G>A (p.Asp15Asn) rs1726072530
NM_173660.5(DOK7):c.440C>T (p.Ala147Val) rs1560212754
NM_173660.5(DOK7):c.442G>T (p.Val148Phe) rs2109343658
NM_173660.5(DOK7):c.445A>G (p.Thr149Ala) rs759723884
NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) rs1727096342
NM_173660.5(DOK7):c.45C>T (p.Asp15=) rs759054772
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
NM_173660.5(DOK7):c.469C>G (p.Leu157Val) rs1727097545
NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
NM_173660.5(DOK7):c.46G>C (p.Gly16Arg) rs764824461
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_173660.5(DOK7):c.487G>A (p.Val163Met) rs746946329
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly) rs1470827824
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
NM_173660.5(DOK7):c.501C>T (p.Phe167=) rs1374098055
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
NM_173660.5(DOK7):c.532+13G>A
NM_173660.5(DOK7):c.532+15G>A
NM_173660.5(DOK7):c.532+20G>A rs2109344000
NM_173660.5(DOK7):c.532+4A>C
NM_173660.5(DOK7):c.532+8C>T
NM_173660.5(DOK7):c.533-159_641del rs2109369117
NM_173660.5(DOK7):c.533-15G>C
NM_173660.5(DOK7):c.533-16T>C
NM_173660.5(DOK7):c.533-19C>T
NM_173660.5(DOK7):c.533-4G>A
NM_173660.5(DOK7):c.533-6C>T rs1727716278
NM_173660.5(DOK7):c.533-8C>G
NM_173660.5(DOK7):c.533-9C>T
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys) rs1727716645
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro) rs756146556
NM_173660.5(DOK7):c.54+11G>A
NM_173660.5(DOK7):c.54+13C>A
NM_173660.5(DOK7):c.54+16G>A
NM_173660.5(DOK7):c.54+20G>A rs1480112817
NM_173660.5(DOK7):c.54+20del rs1726078584
NM_173660.5(DOK7):c.54+21C>G
NM_173660.5(DOK7):c.54+21C>T rs865893625
NM_173660.5(DOK7):c.54+21_54+22del
NM_173660.5(DOK7):c.54+21del rs1170595407
NM_173660.5(DOK7):c.54+22G>A rs1726079112
NM_173660.5(DOK7):c.54+22G>T rs1726079112
NM_173660.5(DOK7):c.54+22_54+23insA
NM_173660.5(DOK7):c.54+22_54+23insC
NM_173660.5(DOK7):c.54+22_54+23insT
NM_173660.5(DOK7):c.54+23G>C rs781051112
NM_173660.5(DOK7):c.54+23G>T rs781051112
NM_173660.5(DOK7):c.54+23_54+24insCG
NM_173660.5(DOK7):c.54+23_54+24insT
NM_173660.5(DOK7):c.54+24G>A
NM_173660.5(DOK7):c.54+24G>C
NM_173660.5(DOK7):c.54+24_54+25insA
NM_173660.5(DOK7):c.54+24_54+25insC
NM_173660.5(DOK7):c.54+25G>A rs769791490
NM_173660.5(DOK7):c.54+25G>C
NM_173660.5(DOK7):c.54+25G>T
NM_173660.5(DOK7):c.54+25_54+26insA
NM_173660.5(DOK7):c.54+25_54+26insC rs767285554
NM_173660.5(DOK7):c.54+25_54+26insCG rs906657133
NM_173660.5(DOK7):c.54+25_54+26insT
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.54+26G>A
NM_173660.5(DOK7):c.54+26G>C rs543525751
NM_173660.5(DOK7):c.54+26G>T rs543525751
NM_173660.5(DOK7):c.54+26_54+27insA
NM_173660.5(DOK7):c.54+26_54+27insAGGGG rs1553844254
NM_173660.5(DOK7):c.54+26_54+27insC
NM_173660.5(DOK7):c.54+26_54+27insT
NM_173660.5(DOK7):c.54+27G>A rs774468059
NM_173660.5(DOK7):c.54+27G>C rs774468059
NM_173660.5(DOK7):c.54+27G>T rs774468059
NM_173660.5(DOK7):c.54+27_54+28insA
NM_173660.5(DOK7):c.54+27_54+28insC rs1282356351
NM_173660.5(DOK7):c.54+27_54+28insCG
NM_173660.5(DOK7):c.54+27_54+28insT
NM_173660.5(DOK7):c.54+28G>A
NM_173660.5(DOK7):c.54+28G>C rs772575255
NM_173660.5(DOK7):c.54+28G>T rs772575255
NM_173660.5(DOK7):c.54+28_54+29insA rs777859905
NM_173660.5(DOK7):c.54+28_54+29insC
NM_173660.5(DOK7):c.54+28_54+29insCG
NM_173660.5(DOK7):c.54+28_54+29insT
NM_173660.5(DOK7):c.54+29G>A
NM_173660.5(DOK7):c.54+29G>C rs767030857
NM_173660.5(DOK7):c.54+29G>T rs767030857
NM_173660.5(DOK7):c.54+29_54+30insA
NM_173660.5(DOK7):c.54+29_54+30insC
NM_173660.5(DOK7):c.54+29_54+30insT
NM_173660.5(DOK7):c.54+30G>A rs562528761
NM_173660.5(DOK7):c.54+30G>T rs562528761
NM_173660.5(DOK7):c.54+30_54+31insA
NM_173660.5(DOK7):c.54+31G>A
NM_173660.5(DOK7):c.54+31G>C
NM_173660.5(DOK7):c.54+31GGGCGC[3]
NM_173660.5(DOK7):c.54+31_54+32insC
NM_173660.5(DOK7):c.54+31_54+32insCGCG
NM_173660.5(DOK7):c.54+31_54+33del rs71180187
NM_173660.5(DOK7):c.54+32G>T
NM_173660.5(DOK7):c.54+32_54+33del rs71180187
NM_173660.5(DOK7):c.54+32_54+33dup rs71180187
NM_173660.5(DOK7):c.54+32_54+33insCGCGG rs1485695721
NM_173660.5(DOK7):c.54+32_54+33insTG
NM_173660.5(DOK7):c.54+33G>A
NM_173660.5(DOK7):c.54+33G>C rs943989420
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG rs1553844286
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
NM_173660.5(DOK7):c.54+33del rs71180187
NM_173660.5(DOK7):c.54+33dup rs71180187
NM_173660.5(DOK7):c.54+34C>G
NM_173660.5(DOK7):c.54+34C>T rs751188494
NM_173660.5(DOK7):c.54+34_54+37del
NM_173660.5(DOK7):c.54+34_54+38del
NM_173660.5(DOK7):c.54+34del rs1726087779
NM_173660.5(DOK7):c.54+34dup
NM_173660.5(DOK7):c.54+36C>G
NM_173660.5(DOK7):c.54+36_54+37del rs1289091767
NM_173660.5(DOK7):c.54+38G>C
NM_173660.5(DOK7):c.54+7G>A
NM_173660.5(DOK7):c.54+8_54+17dup
NM_173660.5(DOK7):c.54+9G>A
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
NM_173660.5(DOK7):c.546C>T (p.Phe182=) rs575721820
NM_173660.5(DOK7):c.548_551del (p.Phe183fs) rs606231130
NM_173660.5(DOK7):c.549C>T (p.Phe183=) rs1448680067
NM_173660.5(DOK7):c.55-12C>G
NM_173660.5(DOK7):c.55-12_55-11del
NM_173660.5(DOK7):c.55-12del rs1214849085
NM_173660.5(DOK7):c.55-13C>G rs886038744
NM_173660.5(DOK7):c.55-13C>T
NM_173660.5(DOK7):c.55-15C>G
NM_173660.5(DOK7):c.55-16C>A rs976572936
NM_173660.5(DOK7):c.55-17C>T
NM_173660.5(DOK7):c.55-18_55-17insA
NM_173660.5(DOK7):c.55-38G>A
NM_173660.5(DOK7):c.55-4G>A
NM_173660.5(DOK7):c.55-8C>T rs2109312415
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro) rs1727718542
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro) rs1220205278
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp) rs375631042
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp) rs1727720417
NM_173660.5(DOK7):c.570G>A (p.Glu190=) rs962876610
NM_173660.5(DOK7):c.576C>T (p.Ile192=)
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu) rs149940009
NM_173660.5(DOK7):c.588C>T (p.Phe196=) rs149940009
NM_173660.5(DOK7):c.597C>A (p.Ile199=)
NM_173660.5(DOK7):c.600C>A (p.Val200=)
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.603A>C (p.Arg201=)
NM_173660.5(DOK7):c.60G>A (p.Lys20=)
NM_173660.5(DOK7):c.612C>T (p.Ser204=) rs2109370734
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.615C>A (p.Pro205=)
NM_173660.5(DOK7):c.615C>G (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.615C>T (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.618C>A (p.Thr206=)
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln) rs1240579533
NM_173660.5(DOK7):c.621G>A (p.Lys207=)
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr) rs759603846
NM_173660.5(DOK7):c.633G>T (p.Gly211=) rs1577165754
NM_173660.5(DOK7):c.638G>C (p.Arg213Pro) rs371408752
NM_173660.5(DOK7):c.638G>T (p.Arg213Leu) rs371408752
NM_173660.5(DOK7):c.642G>A (p.Pro214=)
NM_173660.5(DOK7):c.642G>C (p.Pro214=) rs746371931
NM_173660.5(DOK7):c.652+16T>G
NM_173660.5(DOK7):c.652+1dup rs1727731607
NM_173660.5(DOK7):c.652+20C>G
NM_173660.5(DOK7):c.652+20C>T
NM_173660.5(DOK7):c.652+4C>T rs374675986
NM_173660.5(DOK7):c.652+8T>C
NM_173660.5(DOK7):c.652+9G>A
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
NM_173660.5(DOK7):c.653-11_653-8del
NM_173660.5(DOK7):c.653-13C>T
NM_173660.5(DOK7):c.653-18G>A
NM_173660.5(DOK7):c.653-20G>A
NM_173660.5(DOK7):c.653-20G>C
NM_173660.5(DOK7):c.653-20G>T rs185980724
NM_173660.5(DOK7):c.653-20del
NM_173660.5(DOK7):c.653-3C>T rs767745850
NM_173660.5(DOK7):c.653-4A>G rs1577171863
NM_173660.5(DOK7):c.653-5C>T
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu) rs1728055459
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
NM_173660.5(DOK7):c.657A>G (p.Pro219=)
NM_173660.5(DOK7):c.657A>T (p.Pro219=)
NM_173660.5(DOK7):c.661C>A (p.Pro221Thr) rs377167511
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
NM_173660.5(DOK7):c.661C>T (p.Pro221Ser) rs377167511
NM_173660.5(DOK7):c.663C>T (p.Pro221=)
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
NM_173660.5(DOK7):c.66G>A (p.Arg22=) rs1726093217
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
NM_173660.5(DOK7):c.678T>G (p.Thr226=)
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
NM_173660.5(DOK7):c.68G>T (p.Trp23Leu) rs2109312461
NM_173660.5(DOK7):c.690T>G (p.Arg230=) rs1577172106
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
NM_173660.5(DOK7):c.6C>T (p.Thr2=)
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
NM_173660.5(DOK7):c.707T>G (p.Leu236Arg) rs2109388893
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr) rs2109389067
NM_173660.5(DOK7):c.743_746dup (p.His250fs) rs1560224831
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val) rs1577172369
NM_173660.5(DOK7):c.753G>C (p.Ala251=) rs59932476
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
NM_173660.5(DOK7):c.757_772+3del
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del) rs373384998
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg) rs200407250
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu) rs200407250
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
NM_173660.5(DOK7):c.772+13G>A
NM_173660.5(DOK7):c.772+13dup
NM_173660.5(DOK7):c.772+14C>T rs201023802
NM_173660.5(DOK7):c.772+14del
NM_173660.5(DOK7):c.772+4G>A
NM_173660.5(DOK7):c.772+6G>C rs2109389412
NM_173660.5(DOK7):c.772+8C>G
NM_173660.5(DOK7):c.773-10T>G
NM_173660.5(DOK7):c.773-11C>T
NM_173660.5(DOK7):c.773-13T>C
NM_173660.5(DOK7):c.773-15C>G
NM_173660.5(DOK7):c.773-15C>T
NM_173660.5(DOK7):c.773-19G>T
NM_173660.5(DOK7):c.773-1G>A rs1268475752
NM_173660.5(DOK7):c.773-1G>C
NM_173660.5(DOK7):c.773-2A>C rs1229979805
NM_173660.5(DOK7):c.773-2A>T rs1229979805
NM_173660.5(DOK7):c.773-7_773-4del
NM_173660.5(DOK7):c.773-8_797del
NM_173660.5(DOK7):c.773-9C>G
NM_173660.5(DOK7):c.773-9C>T rs376190589
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly) rs142821143
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) rs142821143
NM_173660.5(DOK7):c.783C>G (p.Arg261=) rs1366900661
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys) rs763233743
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
NM_173660.5(DOK7):c.810_811del (p.His272fs) rs778227501
NM_173660.5(DOK7):c.814C>T (p.His272Tyr) rs1226413438
NM_173660.5(DOK7):c.819G>A (p.Leu273=)
NM_173660.5(DOK7):c.821A>C (p.Asp274Ala) rs1372127333
NM_173660.5(DOK7):c.825C>G (p.Val275=)
NM_173660.5(DOK7):c.840G>C (p.Arg280=)
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.855A>G (p.Pro285=)
NM_173660.5(DOK7):c.856G>A (p.Glu286Lys) rs1577181909
NM_173660.5(DOK7):c.856G>C (p.Glu286Gln) rs1577181909
NM_173660.5(DOK7):c.858G>A (p.Glu286=)
NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
NM_173660.5(DOK7):c.861A>G (p.Gln287=)
NM_173660.5(DOK7):c.867G>A (p.Ser289=)
NM_173660.5(DOK7):c.867G>C (p.Ser289=) rs145862647
NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del) rs749831515
NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
NM_173660.5(DOK7):c.870G>A (p.Ser290=) rs149019681
NM_173660.5(DOK7):c.870G>C (p.Ser290=)
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
NM_173660.5(DOK7):c.875C>T (p.Ala292Val) rs761676338
NM_173660.5(DOK7):c.87G>A (p.Pro29=)
NM_173660.5(DOK7):c.881C>A (p.Thr294Lys) rs151079259
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
NM_173660.5(DOK7):c.882G>C (p.Thr294=)
NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
NM_173660.5(DOK7):c.887A>T (p.Gln296Leu) rs6811423
NM_173660.5(DOK7):c.889G>A (p.Glu297Lys) rs1728590424
NM_173660.5(DOK7):c.891G>A (p.Glu297=)
NM_173660.5(DOK7):c.893G>A (p.Gly298Glu) rs1553850025
NM_173660.5(DOK7):c.894G>T (p.Gly298=)
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
NM_173660.5(DOK7):c.906A>G (p.Ala302=)
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
NM_173660.5(DOK7):c.918C>G (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) rs150415034
NM_173660.5(DOK7):c.921C>G (p.Ala307=)
NM_173660.5(DOK7):c.924G>C (p.Gly308=)
NM_173660.5(DOK7):c.925del (p.Glu309fs) rs1182982672
NM_173660.5(DOK7):c.927A>G (p.Glu309=)
NM_173660.5(DOK7):c.937G>A (p.Gly313Ser) rs1313698372
NM_173660.5(DOK7):c.93C>T (p.Pro31=)
NM_173660.5(DOK7):c.946A>C (p.Arg316=) rs898373845
NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg) rs376334067
NM_173660.5(DOK7):c.957C>T (p.Pro319=) rs777573281
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
NM_173660.5(DOK7):c.960G>A (p.Lys320=)
NM_173660.5(DOK7):c.963G>A (p.Pro321=) rs112624739
NM_173660.5(DOK7):c.963G>T (p.Pro321=)
NM_173660.5(DOK7):c.964C>T (p.Leu322=)
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781
NM_173660.5(DOK7):c.96G>A (p.Val32=)
NM_173660.5(DOK7):c.96G>T (p.Val32=)
NM_173660.5(DOK7):c.973C>A (p.Arg325=) rs376280466
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs) rs2109417797
NM_173660.5(DOK7):c.97G>A (p.Ala33Thr) rs1425852835
NM_173660.5(DOK7):c.983A>G (p.Gln328Arg) rs752168445
NM_173660.5(DOK7):c.987G>A (p.Glu329=)
NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
NM_173660.5(DOK7):c.993C>G (p.Gly331=)
NM_173660.5(DOK7):c.999G>A (p.Gln333=)
Single allele

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