ClinVar Miner

List of variants reported as benign for bone development disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2604
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
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_018475.5(TMEM165):c.18A>G (p.Pro6=) rs1128141 0.71708
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_017617.5(NOTCH1):c.3325+21A>G rs3124597 0.66794
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
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_000088.4(COL1A1):c.299-20C>G rs2256835 0.54824
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) rs12708815 0.51842
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
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
NC_000009.12:g.35658065G>T rs3829076 0.46029
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_001203.3(BMPR1B):c.*141C>T rs1434536 0.45277
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760 0.44895
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_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_001278689.2(EOGT):c.1084-19C>T rs4855541 0.37167
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_006371.5(CRTAP):c.1044G>A (p.Ser348=) rs1135128 0.36102
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=) rs1135127 0.36088
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_018475.5(TMEM165):c.899-15T>C rs7660517 0.33010
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
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_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_003995.4(NPR2):c.18T>C (p.Leu6=) rs2228580 0.28033
NM_001128225.3(SLC39A13):c.301+20C>T rs755555 0.27982
NM_003995.4(NPR2):c.1794C>T (p.Tyr598=) rs5812 0.27923
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
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_000089.4(COL1A2):c.246T>C (p.Asp82=) rs1800222 0.25224
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_001278689.2(EOGT):c.1084-14C>G rs4855540 0.21801
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_001128225.3(SLC39A13):c.301+15G>A rs61000762 0.20155
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_015631.6(TCTN3):c.500-11A>T rs11188434 0.18618
NM_006371.5(CRTAP):c.534C>T (p.Asp178=) rs4076086 0.18059
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NC_000009.12:g.35657744A>G rs71521283 0.17718
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_000346.4(SOX9):c.507C>T (p.His169=) rs2229989 0.16350
NM_022168.4(IFIH1):c.2616+11T>C rs3747518 0.16097
NM_006371.5(CRTAP):c.213G>A (p.Leu71=) rs11558338 0.15448
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_000089.4(COL1A2):c.87T>C (p.Thr29=) rs1801182 0.12315
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_000088.4(COL1A1):c.642+18A>C rs16948767 0.12150
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) rs61897432 0.11400
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718 0.10215
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln) rs35309694 0.09774
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg) rs10930046 0.09666
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527 0.09474
NM_020436.5(SALL4):c.2640G>C (p.Ser880=) rs17802735 0.09099
NM_006494.4(ERF):c.1230T>C (p.Ala410=) rs35493131 0.08759
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_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=) rs924260 0.07855
NM_000088.4(COL1A1):c.859-14T>G rs17639446 0.07746
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_020436.5(SALL4):c.2037C>T (p.Thr679=) rs13043248 0.07305
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_015139.3(SLC35D1):c.729+5G>C rs7539628 0.07175
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_022356.4(P3H1):c.2055+17C>T rs67014447 0.06792
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_022356.4(P3H1):c.1915-20T>G rs3738498 0.06305
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile) rs7200466 0.06145
NM_022166.4(XYLT1):c.2224-12C>T rs12325442 0.06125
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898 0.06056
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_001040167.2(LFNG):c.482-4A>G rs62444250 0.05791
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_006494.4(ERF):c.981C>T (p.Ser327=) rs61735151 0.05337
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_001130144.3(LTBP3):c.2107+8G>A rs74202491 0.05179
NM_001128225.3(SLC39A13):c.83= (p.Glu28=) rs2010519 0.05174
NM_001130144.3(LTBP3):c.1313C>T (p.Ala438Val) rs11545200 0.05087
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly) rs113276942 0.04995
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
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_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04294
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_001040167.2(LFNG):c.972G>A (p.Ser324=) rs12700028 0.04179
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_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_001040167.2(LFNG):c.1002C>T (p.Tyr334=) rs61743870 0.03693
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255 0.03322
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802 0.03297
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_006494.4(ERF):c.1104T>C (p.Ser368=) rs76105803 0.03247
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=) rs3740322 0.03160
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376 0.03105
NM_000089.4(COL1A2):c.3712-13C>T rs74335369 0.03051
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
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_005105.5(RBM8A):c.479+15G>A rs114923929 0.02823
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_001271938.2(MEGF8):c.1933+13A>G rs139484187 0.02617
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803 0.02616
NM_000089.4(COL1A2):c.1878G>T (p.Val626=) rs1800238 0.02599
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837 0.02457
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
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_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NC_000017.11:g.50201674G>A rs113647555 0.02290
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_020436.5(SALL4):c.645C>G (p.Leu215=) rs61737139 0.02226
NM_022168.4(IFIH1):c.2305-19T>C rs74162085 0.02187
NM_014140.4(SMARCAL1):c.2141+17T>C rs2066516 0.02186
NM_022168.4(IFIH1):c.2455-7T>A rs41399348 0.02185
NM_022168.4(IFIH1):c.2454+6T>C rs6748554 0.02184
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453 0.02119
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02054
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388 0.01927
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_022166.4(XYLT1):c.1077C>T (p.His359=) rs35488326 0.01851
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_000346.4(SOX9):c.1113G>A (p.Ala371=) rs929651 0.01816
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001374353.1(GLI2):c.1633-17C>T rs78949549 0.01801
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
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_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
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_022166.4(XYLT1):c.913+9C>T rs79173410 0.01688
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630 0.01684
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_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498 0.01637
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249 0.01569
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719 0.01567
NM_004260.4(RECQL4):c.3480G>A (p.Val1160=) rs34914400 0.01566
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_004260.4(RECQL4):c.2464-17T>C rs35066227 0.01552
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_001130144.3(LTBP3):c.3108C>T (p.Asp1036=) rs79320058 0.01540
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_022166.4(XYLT1):c.1994C>T (p.Thr665Met) rs79030430 0.01493
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_004260.4(RECQL4):c.274= (p.Ser92=) rs2721190 0.01468
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347 0.01467
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261 0.01405
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071 0.01402
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246 0.01393
NM_004239.4(TRIP11):c.1527+6A>G rs17127844 0.01376
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887 0.01366
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=) rs114914860 0.01363
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys) rs17173698 0.01330
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762 0.01322
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_004239.4(TRIP11):c.202-7T>A rs56034853 0.01303
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_001130144.3(LTBP3):c.804C>T (p.Pro268=) rs201590889 0.01247
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412 0.01241
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447 0.01216
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_001130144.3(LTBP3):c.3012T>C (p.Ile1004=) rs151139557 0.01204
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974 0.01195
NM_020436.5(SALL4):c.408T>C (p.Asn136=) rs76870996 0.01190
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_006494.4(ERF):c.1244C>T (p.Ala415Val) rs139842507 0.01177
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
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_004260.4(RECQL4):c.3127= (p.Leu1043=) rs4925828 0.01159
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848 0.01111
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898 0.01101
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
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_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071 0.00974
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
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_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_001015880.2(PAPSS2):c.841A>T (p.Met281Leu) rs45624631 0.00958
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_001271938.2(MEGF8):c.6641+15G>A rs118098511 0.00926
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_004273.5(CHST3):c.1160G>A (p.Arg387His) rs145384892 0.00906
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672 0.00895
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304 0.00870
NM_001015880.2(PAPSS2):c.886G>A (p.Val296Met) rs45467596 0.00863
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001130144.3(LTBP3):c.2222C>G (p.Ala741Gly) rs148780991 0.00840
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850 0.00832
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) rs2273186 0.00816
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305 0.00795
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_001130144.3(LTBP3):c.3573C>T (p.Ser1191=) rs145046881 0.00786
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112 0.00784
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00778
NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916 0.00775
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_001271938.2(MEGF8):c.5011+15C>T rs78233194 0.00745
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842 0.00729
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
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_022166.4(XYLT1):c.606A>G (p.Lys202=) rs114030556 0.00708
NM_001271938.2(MEGF8):c.5489-16C>T rs35875097 0.00707
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_001130144.3(LTBP3):c.1979-11C>G rs182705867 0.00693
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380 0.00687
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498 0.00686
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380 0.00682
NM_004273.5(CHST3):c.108C>G (p.Val36=) rs77124584 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser) rs57372986 0.00678
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096 0.00664
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) rs11555797 0.00657
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
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_022166.4(XYLT1):c.1743G>A (p.Pro581=) rs34653270 0.00640
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529 0.00618
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 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_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834 0.00602
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00571
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_022356.4(P3H1):c.1716C>T (p.Ile572=) rs35500164 0.00563
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_004239.4(TRIP11):c.3858G>A (p.Gln1286=) rs35798420 0.00558
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_006371.5(CRTAP):c.888C>T (p.Thr296=) rs13637 0.00524
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
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_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
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_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_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
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_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_005105.5(RBM8A):c.240C>T (p.Val80=) rs1806851 0.00473
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681 0.00470
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
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_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961 0.00455
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
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_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_004260.4(RECQL4):c.2755+16dup rs35544622 0.00430
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_001015880.2(PAPSS2):c.753+4A>C rs17125280 0.00427
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870 0.00424
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_004260.4(RECQL4):c.3503-20G>A rs372780200 0.00422
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NC_000009.12:g.35657733_35657802dup rs1563906333 0.00418
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749 0.00410
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454 0.00410
NM_022356.4(P3H1):c.2115C>T (p.Leu705=) rs199887811 0.00409
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_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_003995.4(NPR2):c.668-4C>A rs61758517 0.00383
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_003995.4(NPR2):c.873+13C>A rs61758520 0.00377
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_022166.4(XYLT1):c.2370C>A (p.Val790=) rs74750647 0.00372
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=) rs145230931 0.00368
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_001040167.2(LFNG):c.481+3G>A rs141008352 0.00361
NM_020779.4(WDR35):c.2414+20C>T rs116756504 0.00361
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810 0.00342
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=) rs115592862 0.00337
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888 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_001374353.1(GLI2):c.2211G>T (p.Arg737=) rs142856393 0.00317
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_000346.4(SOX9):c.276G>T (p.Pro92=) rs139490970 0.00312
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_004260.4(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923 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_022166.4(XYLT1):c.2226C>T (p.Val742=) rs139693964 0.00304
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00291
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_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
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_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 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_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00277
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=) rs201384843 0.00276
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu) rs35978122 0.00270
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 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_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
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_004260.4(RECQL4):c.2463+7del rs760575376 0.00265
NM_001130144.3(LTBP3):c.2107+13C>T rs201699516 0.00263
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_004260.4(RECQL4):c.1620+16C>T rs35569304 0.00262
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=) rs35048226 0.00259
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_022166.4(XYLT1):c.1848G>C (p.Leu616=) rs150301505 0.00258
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_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_006371.5(CRTAP):c.622-16T>C rs147610884 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) rs150549656 0.00245
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00242
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00242
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00237
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_001015880.2(PAPSS2):c.477C>T (p.Asp159=) rs141604779 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_001130144.3(LTBP3):c.2889C>T (p.Ser963=) rs75311576 0.00230
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=) rs77836443 0.00230
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_001015880.2(PAPSS2):c.1403C>T (p.Ala468Val) rs34097979 0.00227
NM_001374353.1(GLI2):c.255-17G>T rs199499256 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_022166.4(XYLT1):c.363+18C>G rs367589791 0.00225
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_022168.4(IFIH1):c.2899-4C>T rs114541610 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
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_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_015139.3(SLC35D1):c.730-8T>C rs138429988 0.00215
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355 0.00214
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=) rs34986695 0.00211
NM_001040167.2(LFNG):c.75C>T (p.Thr25=) rs767338996 0.00209
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00207
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 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_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 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_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_022166.4(XYLT1):c.2028-15C>T rs150179077 0.00203
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
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_004260.4(RECQL4):c.2223C>T (p.Ala741=) rs34271972 0.00198
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=) rs150727538 0.00196
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_001130144.3(LTBP3):c.3548-9T>C rs149115544 0.00193
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=) rs139648725 0.00193
NM_022168.4(IFIH1):c.427C>T (p.Leu143=) rs143902922 0.00192
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) rs368507303 0.00190
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) rs2273183 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 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_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001015880.2(PAPSS2):c.276T>C (p.Ser92=) rs17124941 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 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_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_004239.4(TRIP11):c.5056+11C>T rs199549473 0.00170
NM_004260.4(RECQL4):c.2544C>T (p.Arg848=) rs200114521 0.00169
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) rs140430323 0.00163
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala) rs138057665 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_003995.4(NPR2):c.2434T>C (p.Leu812=) rs115119353 0.00161
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_000088.4(COL1A1):c.1668+16C>T rs41316659 0.00160
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_004260.4(RECQL4):c.3394-11T>C rs370677156 0.00158
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
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_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) rs145868557 0.00148
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_000088.4(COL1A1):c.1057-20T>C rs73338527 0.00146
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_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00142
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478 0.00140
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_006494.4(ERF):c.24G>A (p.Gly8=) rs200969503 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser) rs111793182 0.00133
NM_017617.5(NOTCH1):c.865+18C>T rs55677618 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_000088.4(COL1A1):c.642+11T>C rs376087528 0.00127
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00125
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_001271938.2(MEGF8):c.4504-14G>A rs111624233 0.00124
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) rs142296407 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=) rs146398243 0.00122
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_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_001374353.1(GLI2):c.1662C>T (p.Cys554=) rs143055766 0.00120
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=) rs145615931 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_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_001203.3(BMPR1B):c.586-18T>G rs80218727 0.00115
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798 0.00111
NM_015139.3(SLC35D1):c.672A>C (p.Ala224=) rs138369664 0.00111
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_213599.3(ANO5):c.2521-7C>T rs201438159 0.00109
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_018475.5(TMEM165):c.921T>G (p.Val307=) rs149833286 0.00108
NM_001040167.2(LFNG):c.612C>T (p.Tyr204=) rs147266260 0.00105
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 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_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) rs151090814 0.00101
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=) rs373759775 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_020779.4(WDR35):c.142+10T>C rs186647997 0.00096
NM_000346.4(SOX9):c.1320C>T (p.Tyr440=) rs80338688 0.00095
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_001374353.1(GLI2):c.129A>C (p.Ala43=) rs201041526 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=) rs117063418 0.00093
NM_001130144.3(LTBP3):c.1186+18G>T rs369938562 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 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_023110.3(FGFR1):c.1081+20C>T rs17175982 0.00092
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_018475.5(TMEM165):c.96G>T (p.Arg32=) rs769539033 0.00090
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NC_000009.12:g.35658080G>T rs367843919 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 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_005105.5(RBM8A):c.318C>T (p.Leu106=) rs139097271 0.00086
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784 0.00086
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_001429.4(EP300):c.2998-14dup rs560058125 0.00083
NM_001429.4(EP300):c.3143-9T>C rs199773872 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_022168.4(IFIH1):c.1642-19G>A rs189341467 0.00082
NM_001130144.3(LTBP3):c.708C>A (p.Pro236=) rs373043487 0.00080
NM_001130144.3(LTBP3):c.1064-10C>T rs202221935 0.00079
NM_004260.4(RECQL4):c.2464-16G>A rs531951007 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_014140.4(SMARCAL1):c.2528+15G>A rs200879397 0.00078
NM_018475.5(TMEM165):c.433+15C>A rs370138167 0.00078
NM_022168.4(IFIH1):c.623-19C>G rs371045477 0.00078
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_001374353.1(GLI2):c.1533C>T (p.Thr511=) rs137960978 0.00075
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
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_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00073
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) rs77538589 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_000089.4(COL1A2):c.1971+18T>C rs41317174 0.00072
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_000089.4(COL1A2):c.1405-16A>G rs73428205 0.00071
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678 0.00071
NM_023110.3(FGFR1):c.1855-16C>T rs371160786 0.00071
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_004239.4(TRIP11):c.5057-9T>G rs372161255 0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004380.3(CREBBP):c.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 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_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278 0.00069
NM_001130144.3(LTBP3):c.2353+14C>T rs368828977 0.00068
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_014140.4(SMARCAL1):c.1850G>T (p.Arg617Leu) rs199805996 0.00068
NM_017617.5(NOTCH1):c.1669+15C>T rs576849563 0.00068
NM_020779.4(WDR35):c.1401-15T>G rs201903683 0.00068
NM_022168.4(IFIH1):c.2898+17G>A rs145381408 0.00068
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=) rs1800253 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=) rs144784084 0.00066
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610 0.00066
NM_004260.4(RECQL4):c.85-13G>T rs568000575 0.00065
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793 0.00064
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_001429.4(EP300):c.94+13A>G rs201124490 0.00062
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) rs34919378 0.00062
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533 0.00062
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=) rs113437353 0.00061
NM_001040167.2(LFNG):c.581+14C>T rs371327031 0.00061
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000346.4(SOX9):c.686-8del rs564339518 0.00060
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664 0.00060
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val) rs199905841 0.00059
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NC_000009.12:g.35658030T>G rs372044910 0.00058
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu) rs144812092 0.00058
NM_017617.5(NOTCH1):c.140+17C>T rs377269443 0.00058
NM_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507 0.00056
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) rs142312753 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00054
NM_000088.4(COL1A1):c.3531+14C>T rs199766533 0.00053
NM_006494.4(ERF):c.840G>A (p.Ser280=) rs145699948 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_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188 0.00052
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00052
NM_213599.3(ANO5):c.2029+19T>G rs374035760 0.00052
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_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371 0.00051
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala) rs12325439 0.00051
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279 0.00049
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
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_015139.3(SLC35D1):c.203+12G>T rs200679737 0.00047
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273 0.00047
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_012330.4(KAT6B):c.5970C>T (p.Asn1990=) rs140359323 0.00046
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser) rs146288199 0.00046
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val) rs567260713 0.00045
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677 0.00045
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.355-8C>T rs368782236 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_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581 0.00044
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala) rs149359253 0.00044
NM_000088.4(COL1A1):c.1984-7C>G rs376886366 0.00043
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 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_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_006494.4(ERF):c.405G>A (p.Val135=) rs144678577 0.00041
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) rs147195029 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_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg) rs140016031 0.00038
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 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_012330.4(KAT6B):c.4239A>G (p.Glu1413=) rs140636550 0.00038
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_001130144.3(LTBP3):c.3435C>T (p.Asp1145=) rs534239532 0.00037
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185 0.00037
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_000088.4(COL1A1):c.3815-18T>C rs373624129 0.00034
NM_001374353.1(GLI2):c.1632+11G>A rs140347335 0.00034
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=) rs368908286 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 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_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00033
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644 0.00032
NM_000088.4(COL1A1):c.1876-10C>T rs370308401 0.00031
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=) rs200149538 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_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=) rs144531370 0.00031
NM_022168.4(IFIH1):c.103C>T (p.Leu35=) rs75342243 0.00031
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val) rs758387388 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_006494.4(ERF):c.1614G>A (p.Thr538=) rs183334082 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) rs145307365 0.00029
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=) rs143049736 0.00029
NM_001130144.3(LTBP3):c.2458G>A (p.Asp820Asn) rs140268486 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_003995.4(NPR2):c.999C>T (p.Ile333=) rs28764009 0.00029
NM_006494.4(ERF):c.673C>T (p.Leu225=) rs35578793 0.00029
NM_014140.4(SMARCAL1):c.270C>T (p.His90=) rs150591090 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=) rs201889382 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_001374353.1(GLI2):c.348C>T (p.Asn116=) rs140711756 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_001130144.3(LTBP3):c.331+10G>A rs199896239 0.00027
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180 0.00027
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser) rs535702482 0.00027
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095 0.00026
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) rs140106241 0.00026
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
NM_022166.4(XYLT1):c.657C>T (p.Pro219=) rs146043560 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_006371.5(CRTAP):c.49G>A (p.Val17Met) rs200576259 0.00025
NM_000089.4(COL1A2):c.892-13C>G rs200532328 0.00024
NM_001130144.3(LTBP3):c.2726-13G>A rs59666890 0.00024
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) rs34231464 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val) rs199662367 0.00024
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=) rs145615486 0.00024
NM_003036.4(SKI):c.1474+15C>T rs369979606 0.00023
NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys) rs34633809 0.00023
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_020436.5(SALL4):c.1113C>G (p.Val371=) rs77810153 0.00023
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_003995.4(NPR2):c.2643+10A>G rs200486126 0.00022
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=) rs200947696 0.00022
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_000088.4(COL1A1):c.1461+16C>T rs41316648 0.00021
NM_000089.4(COL1A2):c.981C>T (p.Arg327=) rs141762645 0.00021
NM_000346.4(SOX9):c.42G>A (p.Gln14=) rs769605571 0.00021
NM_001040167.2(LFNG):c.920G>A (p.Arg307His) rs201791522 0.00021
NM_001429.4(EP300):c.6043A>G (p.Met2015Val) rs1351718424 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu) rs117608083 0.00021
NM_022168.4(IFIH1):c.1642-20A>C rs191343755 0.00021
NM_022168.4(IFIH1):c.453+5G>C rs548027236 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_001429.4(EP300):c.1608C>A (p.Ala536=) rs370568560 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007 0.00020
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=) rs551706871 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00019
NM_001040167.2(LFNG):c.988-12C>T rs200232463 0.00019
NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) rs145700191 0.00019
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) rs200739251 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys) rs770325540 0.00019
NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys) rs572706456 0.00019
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser) rs143481827 0.00019
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=) rs374488772 0.00019
NM_022356.4(P3H1):c.619-11C>T rs202219307 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.2242-8T>C rs199931034 0.00018
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=) rs545459178 0.00017
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_001040167.2(LFNG):c.822-9C>G rs199661195 0.00017
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418 0.00017
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) rs202023240 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_022166.4(XYLT1):c.951C>T (p.Ser317=) rs145318002 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg) rs140300789 0.00016
NM_003036.4(SKI):c.1095+18G>A rs748998967 0.00016
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530 0.00016
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_003995.4(NPR2):c.2519+9T>C rs185385838 0.00016
NM_004260.4(RECQL4):c.2131G>A (p.Glu711Lys) rs371818842 0.00016
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571 0.00016
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147 0.00016
NM_018475.5(TMEM165):c.351A>G (p.Ala117=) rs747450377 0.00016
NM_022168.4(IFIH1):c.2454+9A>G rs193149001 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_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_001429.4(EP300):c.5565A>G (p.Pro1855=) rs150532830 0.00015
NM_004239.4(TRIP11):c.576G>C (p.Arg192Ser) rs577597668 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.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile) rs200389061 0.00015
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_000089.4(COL1A2):c.226-6C>A rs199616511 0.00014
NM_001015880.2(PAPSS2):c.754-6T>C rs202210032 0.00014
NM_001203.3(BMPR1B):c.901A>G (p.Met301Val) rs199613098 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_004260.4(RECQL4):c.1899C>T (p.Gly633=) rs557065974 0.00014
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro) rs748747684 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_012330.4(KAT6B):c.730+7T>A rs571475726 0.00014
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678 0.00014
NM_017617.5(NOTCH1):c.3901+12G>A rs367600561 0.00014
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu) rs761345476 0.00014
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 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.940-12C>G rs200707006 0.00014
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_004260.4(RECQL4):c.492G>A (p.Glu164=) rs368335924 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_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469 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_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=) rs118172671 0.00013
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_001015880.2(PAPSS2):c.1401C>T (p.His467=) rs145487582 0.00012
NM_001130144.3(LTBP3):c.1137T>C (p.Cys379=) rs201941540 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_003995.4(NPR2):c.1633-10C>A rs201550050 0.00012
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373 0.00012
NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=) rs140939244 0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001040167.2(LFNG):c.1074-16T>C rs143421936 0.00011
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 0.00011
NM_001278689.2(EOGT):c.816C>T (p.Ile272=) rs554241529 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 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_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00011
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser) rs369467132 0.00011
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) rs146604877 0.00011
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=) rs372015293 0.00011
NM_022168.4(IFIH1):c.1524+19T>C rs374493449 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=) rs541912705 0.00010
NM_000346.4(SOX9):c.477G>A (p.Glu159=) rs369677666 0.00010
NM_001374353.1(GLI2):c.1260C>T (p.Thr420=) rs200497671 0.00010
NM_001429.4(EP300):c.2925A>G (p.Glu975=) rs75752076 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) rs542036896 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585 0.00010
NM_022166.4(XYLT1):c.1289+13A>G rs759329282 0.00010
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=) rs781523339 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_000088.4(COL1A1):c.1783G>T (p.Ala595Ser) rs376047287 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000088.4(COL1A1):c.858+24G>A rs532741992 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000474.4(TWIST1):c.330G>A (p.Arg110=) rs199932465 0.00009
NM_001015880.2(PAPSS2):c.27+18G>A rs750670771 0.00009
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) rs143885868 0.00009
NM_001203.3(BMPR1B):c.891C>T (p.Asp297=) rs112111860 0.00009
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=) rs375943387 0.00009
NM_001374353.1(GLI2):c.321G>A (p.Pro107=) rs578011257 0.00009
NM_001429.4(EP300):c.1443G>A (p.Pro481=) rs374768898 0.00009
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629 0.00009
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00009
NM_004260.4(RECQL4):c.2874C>T (p.Ala958=) rs748601844 0.00009
NM_004260.4(RECQL4):c.633T>C (p.Asp211=) rs571624962 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 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.681T>C (p.Pro227=) rs201193684 0.00009
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) rs148243411 0.00009
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00009
NM_015139.3(SLC35D1):c.797+16C>T rs374531477 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.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144 0.00009
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_001271938.2(MEGF8):c.2919C>T (p.His973=) rs766105588 0.00008
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile) rs77422116 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.5346C>T (p.Cys1782=) rs747513510 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367 0.00008
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) rs144317897 0.00008
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) rs367632896 0.00008
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 0.00008
NM_004260.4(RECQL4):c.171C>T (p.Gly57=) rs758179747 0.00008
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350 0.00008
NM_015631.6(TCTN3):c.933G>T (p.Leu311=) rs371380545 0.00008
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433 0.00008
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) rs773981674 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_020779.4(WDR35):c.867C>T (p.Tyr289=) rs185888517 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=) rs552562422 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_000346.4(SOX9):c.480G>A (p.Arg160=) rs370267426 0.00007
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=) rs538479771 0.00007
NM_001130144.3(LTBP3):c.3629-20T>C rs542733677 0.00007
NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=) rs773098021 0.00007
NM_001429.4(EP300):c.6414G>A (p.Ala2138=) rs374679651 0.00007
NM_004260.4(RECQL4):c.2756-8G>T rs372723857 0.00007
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=) rs184805842 0.00007
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 0.00007
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) rs587778558 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728 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_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) rs200017837 0.00007
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) rs200145743 0.00006
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=) rs765398195 0.00006
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542 0.00006
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=) rs201760437 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_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.3750C>T (p.Cys1250=) rs747187417 0.00006
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204 0.00006
NM_001429.4(EP300):c.7114A>G (p.Met2372Val) rs768061933 0.00006
NM_004260.4(RECQL4):c.2634C>A (p.Pro878=) rs769166199 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_012330.4(KAT6B):c.3697G>A (p.Glu1233Lys) rs371178186 0.00006
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) rs776698364 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.4756C>T (p.Arg1586Cys) rs1418474023 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) rs753752321 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_020436.5(SALL4):c.2028C>T (p.Asn676=) rs755057820 0.00006
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) rs377097003 0.00006
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser) rs185928139 0.00006
NM_022168.4(IFIH1):c.769+17C>T rs74162076 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_052989.3(IFT122):c.1992+7A>G rs757823317 0.00006
NM_213599.3(ANO5):c.1215A>G (p.Gln405=) rs751839118 0.00006
NM_001130144.3(LTBP3):c.885C>T (p.Pro295=) rs575590294 0.00005
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=) rs746659886 0.00005
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=) rs200526872 0.00005
NM_001374353.1(GLI2):c.1383G>A (p.Thr461=) rs768606373 0.00005
NM_001374353.1(GLI2):c.1947C>T (p.Ser649=) rs528985094 0.00005
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu) rs199773279 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 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_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys) rs371868900 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.5223G>A (p.Ala1741=) rs766444406 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 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_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=) rs766027130 0.00005
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp) rs550930413 0.00005
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter) rs747926684 0.00005
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.2235+15C>T rs754442679 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys) rs760040029 0.00004
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) rs533127847 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.589-18T>G rs775985897 0.00004
NM_000088.4(COL1A1):c.655C>T (p.Pro219Ser) rs868168330 0.00004
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=) rs139913150 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000089.4(COL1A2):c.783T>C (p.Pro261=) rs200436925 0.00004
NM_000346.4(SOX9):c.187G>C (p.Glu63Gln) rs149852681 0.00004
NM_000346.4(SOX9):c.200A>G (p.Asp67Gly) rs769953292 0.00004
NM_001130144.3(LTBP3):c.1556G>A (p.Ser519Asn) rs570380350 0.00004
NM_001374353.1(GLI2):c.546C>T (p.Leu182=) rs200028917 0.00004
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569 0.00004
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.3522A>G (p.Thr1174=) rs756748826 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_003036.4(SKI):c.1041C>T (p.Ser347=) rs140745811 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) rs2038276 0.00004
NM_004260.4(RECQL4):c.1959A>G (p.Ala653=) rs574411332 0.00004
NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=) rs139228543 0.00004
NM_004273.5(CHST3):c.513A>G (p.Thr171=) rs567771631 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.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_006494.4(ERF):c.132C>T (p.Gly44=) rs192294053 0.00004
NM_006494.4(ERF):c.514C>T (p.Leu172Phe) rs763588724 0.00004
NM_012330.4(KAT6B):c.3106C>A (p.Pro1036Thr) rs764184204 0.00004
NM_012330.4(KAT6B):c.4312G>A (p.Glu1438Lys) rs377275320 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 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.1376A>G (p.Asn459Ser) rs574143345 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.1904-10A>G rs200896186 0.00004
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) rs780810308 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 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.3700C>T (p.Arg1234Trp) rs761304479 0.00004
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His) rs368400902 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.4222G>A (p.Glu1408Lys) rs587778569 0.00004
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530 0.00004
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754 0.00004
NM_017617.5(NOTCH1):c.540C>T (p.Asn180=) rs760162406 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 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.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) rs61751491 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile) rs1052013977 0.00004
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=) rs759443061 0.00004
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_022168.4(IFIH1):c.2304+20C>T rs561559397 0.00004
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=) rs56273573 0.00004
NM_023110.3(FGFR1):c.449-8C>A rs551551806 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1412C>G (p.Ala471Gly) rs978893604 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.2779C>T (p.Pro927Ser) rs756537503 0.00003
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) rs769158560 0.00003
NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser) rs751784955 0.00003
NM_000089.4(COL1A2):c.694-15T>C rs779799840 0.00003
NM_000346.4(SOX9):c.920C>G (p.Pro307Arg) rs202028563 0.00003
NM_001128225.3(SLC39A13):c.930T>C (p.Ser310=) rs371311030 0.00003
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345 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.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 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_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 0.00003
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=) rs138353979 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.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5958G>A (p.Thr1986=) rs774747147 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser) rs587778214 0.00003
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) rs754128910 0.00003
NM_012330.4(KAT6B):c.3539T>G (p.Val1180Gly) rs1213787718 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.5232G>A (p.Pro1744=) rs569870263 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_014140.4(SMARCAL1):c.1056C>T (p.Asp352=) rs775747796 0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 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.1868A>G (p.Asn623Ser) rs769696527 0.00003
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro) rs752513330 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.2442G>A (p.Lys814=) rs544653892 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563 0.00003
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn) rs763217096 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.362C>T (p.Thr121Met) rs529738206 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val) rs376799353 0.00003
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697 0.00003
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158 0.00003
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp) rs575513935 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr) rs375102032 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=) rs762092431 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.6313A>G (p.Met2105Val) rs748138179 0.00003
NM_017617.5(NOTCH1):c.6377G>C (p.Gly2126Ala) rs776496915 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.6760G>A (p.Glu2254Lys) rs1163673587 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.7432G>A (p.Ala2478Thr) rs779039862 0.00003
NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His) rs754570072 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) rs577626107 0.00002
NM_000346.4(SOX9):c.1169G>C (p.Gly390Ala) rs750284138 0.00002
NM_000346.4(SOX9):c.76A>G (p.Met26Val) rs575451633 0.00002
NM_001040167.2(LFNG):c.988-16C>T rs376736772 0.00002
NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys) rs777745046 0.00002
NM_001374353.1(GLI2):c.2243-4G>A rs568001894 0.00002
NM_001429.4(EP300):c.1341A>G (p.Gln447=) rs780940794 0.00002
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 0.00002
NM_003036.4(SKI):c.190G>A (p.Val64Met) rs754036418 0.00002
NM_003995.4(NPR2):c.2047+11C>T rs200583592 0.00002
NM_004239.4(TRIP11):c.1098G>A (p.Lys366=) rs201503194 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val) rs190153828 0.00002
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 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.1136A>G (p.Asn379Ser) rs752255207 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=) rs775219296 0.00002
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=) rs755070916 0.00002
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser) rs373556820 0.00002
NM_017617.5(NOTCH1):c.2207+7G>A rs138935812 0.00002
NM_017617.5(NOTCH1):c.226G>A (p.Val76Met) rs532574807 0.00002
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg) rs747529236 0.00002
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met) rs772945824 0.00002
NM_017617.5(NOTCH1):c.2668G>A (p.Gly890Ser) rs1248255443 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met) rs369730402 0.00002
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys) rs1399392600 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.4252G>A (p.Ala1418Thr) rs1290588213 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.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=) rs781386640 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560 0.00002
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu) rs970443298 0.00002
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His) rs777423973 0.00002
NM_017617.5(NOTCH1):c.5913C>T (p.Ala1971=) rs768799805 0.00002
NM_017617.5(NOTCH1):c.5935-11C>T rs768074148 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.6365C>T (p.Pro2122Leu) rs767587816 0.00002
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=) rs1032110986 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_023110.3(FGFR1):c.448+20C>T rs767029419 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_000088.4(COL1A1):c.103+16T>G rs548069648 0.00001
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val) rs546629502 0.00001
NM_000088.4(COL1A1):c.1984-13C>A rs772638625 0.00001
NM_000088.4(COL1A1):c.2049C>T (p.Gly683=) rs149352055 0.00001
NM_000088.4(COL1A1):c.2274C>T (p.Gly758=) rs200111312 0.00001
NM_000088.4(COL1A1):c.2572G>A (p.Ala858Thr) rs773428245 0.00001
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663 0.00001
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile) rs375823086 0.00001
NM_000088.4(COL1A1):c.393A>T (p.Arg131=) rs768576692 0.00001
NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys) rs778077946 0.00001
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000346.4(SOX9):c.1178A>G (p.Gln393Arg) rs1016657347 0.00001
NM_000346.4(SOX9):c.657C>T (p.Ser219=) rs777250801 0.00001
NM_000346.4(SOX9):c.916G>T (p.Val306Leu) rs779386878 0.00001
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857 0.00001
NM_001128225.3(SLC39A13):c.646-13C>T rs773526046 0.00001
NM_001130144.3(LTBP3):c.1332A>G (p.Pro444=) rs530601538 0.00001
NM_001130144.3(LTBP3):c.864+18C>T rs374205429 0.00001
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) rs577188671 0.00001
NM_001203.3(BMPR1B):c.247-4A>G rs570808649 0.00001
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=) rs540512909 0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292 0.00001
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=) rs527394057 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile) rs200999705 0.00001
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val) rs577126364 0.00001
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 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.271C>T (p.Pro91Ser) rs138538553 0.00001
NM_001429.4(EP300):c.2997+12G>A rs372770495 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.5709C>T (p.Gly1903=) rs200728751 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 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_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617 0.00001
NM_003036.4(SKI):c.504C>T (p.Pro168=) rs774588048 0.00001
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001
NM_004260.4(RECQL4):c.3246C>T (p.Phe1082=) rs748604051 0.00001
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) rs746902106 0.00001
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser) rs558051943 0.00001
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) rs563033919 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.5898C>A (p.Ala1966=) rs770870064 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_006371.5(CRTAP):c.167G>A (p.Ser56Asn) rs571617130 0.00001
NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr) rs766318986 0.00001
NM_012330.4(KAT6B):c.1387C>T (p.Arg463Cys) rs1222902525 0.00001
NM_012330.4(KAT6B):c.1540A>G (p.Thr514Ala) rs534868169 0.00001
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val) rs768402080 0.00001
NM_012330.4(KAT6B):c.3109G>A (p.Ala1037Thr) rs754306389 0.00001
NM_012330.4(KAT6B):c.3226G>A (p.Glu1076Lys) rs750930283 0.00001
NM_012330.4(KAT6B):c.3533T>C (p.Ile1178Thr) rs1264397368 0.00001
NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser) rs1287506606 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.3728A>G (p.Lys1243Arg) rs758355954 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) rs775255115 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.4656C>G (p.Ser1552Arg) rs768290031 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=) rs199805770 0.00001
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 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.1077C>T (p.Cys359=) rs202235419 0.00001
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn) rs1290954710 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.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=) rs762533002 0.00001
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) rs1060502238 0.00001
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu) rs747502723 0.00001
NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=) rs754876256 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 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.197C>T (p.Thr66Ile) rs752133245 0.00001
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn) rs749761941 0.00001
NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=) rs751619078 0.00001
NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=) rs753710836 0.00001
NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys) rs368494947 0.00001
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala) rs200692749 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.2425G>A (p.Asp809Asn) rs762729988 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met) rs754775789 0.00001
NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=) rs747189377 0.00001
NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu) rs371050668 0.00001
NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser) rs756555345 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 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.2753A>G (p.Asn918Ser) rs367586502 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.2951C>T (p.Thr984Met) rs769132985 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.3363C>G (p.Leu1121=) rs534486656 0.00001
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser) rs754815022 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.365T>G (p.Leu122Arg) rs984769025 0.00001
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile) rs766198119 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.3829G>A (p.Asp1277Asn) rs550872754 0.00001
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) rs750539322 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) rs1249540119 0.00001
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=) rs775448292 0.00001
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser) rs761908188 0.00001
NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His) rs779086531 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser) rs763685504 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.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=) rs1392196185 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 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.4984C>T (p.Arg1662Trp) rs1456612268 0.00001
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala) rs975429231 0.00001
NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly) rs1394975333 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.5344A>C (p.Lys1782Gln) rs1188095516 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.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.581C>T (p.Thr194Ile) rs760005580 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.5972G>A (p.Arg1991His) rs1371022203 0.00001
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile) rs759643831 0.00001
NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr) rs542300217 0.00001
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile) rs979299004 0.00001
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995 0.00001
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser) rs201058656 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.6295G>A (p.Asp2099Asn) rs766745955 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725 0.00001
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met) rs777501680 0.00001
NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=) rs368287903 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.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met) rs376241938 0.00001
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu) rs751456570 0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276 0.00001
NM_017617.5(NOTCH1):c.6871G>A (p.Gly2291Arg) rs367721906 0.00001
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=) rs201643432 0.00001
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val) rs749993527 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.7046C>T (p.Pro2349Leu) rs540165156 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) rs746658493 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.743-14C>T rs536768165 0.00001
NM_017617.5(NOTCH1):c.743-18C>T rs769949581 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.79C>A (p.Pro27Thr) rs769784635 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020779.4(WDR35):c.1845+16G>A rs376710057 0.00001
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=) rs543473631 0.00001
NM_022166.4(XYLT1):c.624C>T (p.Phe208=) rs372923585 0.00001
NM_022168.4(IFIH1):c.1096-10T>A rs773810038 0.00001
NM_022168.4(IFIH1):c.622+15A>G rs200515533 0.00001
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter) rs762821474 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.359-7C>T rs749216266 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NC_000002.11:g.(?_163128856)_(163131721_?)del
NC_000009.12:g.35658023C>T rs7024732
NC_000009.12:g.35658038G>C rs183974004
NC_000009.12:g.35658042T>C rs529852688
NC_000009.12:g.35658073T>C rs12551232
NC_000009.12:g.35658075A>G rs3829077
NM_000088.4(COL1A1):c.1056+12del
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1300-12dup rs776544779
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1341T>A (p.Ala447=)
NM_000088.4(COL1A1):c.1360G>A (p.Val454Ile)
NM_000088.4(COL1A1):c.1425C>T (p.Pro475=)
NM_000088.4(COL1A1):c.143A>G (p.His48Arg) rs1273874412
NM_000088.4(COL1A1):c.144T>C (p.His48=)
NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe)
NM_000088.4(COL1A1):c.1811C>A (p.Pro604His)
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)
NM_000088.4(COL1A1):c.183C>T (p.Cys61=)
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.2005G>C (p.Ala669Pro) rs563598815
NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg)
NM_000088.4(COL1A1):c.2043C>A (p.Phe681Leu)
NM_000088.4(COL1A1):c.2141C>T (p.Ala714Val)
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2176C>A (p.Leu726Ile)
NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile) rs138749826
NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu) rs138749826
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)
NM_000088.4(COL1A1):c.2608C>T (p.Pro870Ser) rs771918127
NM_000088.4(COL1A1):c.2617G>A (p.Ala873Thr)
NM_000088.4(COL1A1):c.2770C>T (p.Pro924Ser)
NM_000088.4(COL1A1):c.2937+13del
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[9] rs138425306
NM_000088.4(COL1A1):c.3396T>G (p.Ser1132=)
NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=)
NM_000088.4(COL1A1):c.3598T>C (p.Phe1200Leu)
NM_000088.4(COL1A1):c.370-6del rs35576965
NM_000088.4(COL1A1):c.3701C>G (p.Thr1234Ser)
NM_000088.4(COL1A1):c.3737G>A (p.Arg1246Gln)
NM_000088.4(COL1A1):c.3809A>C (p.Lys1270Thr)
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
NM_000088.4(COL1A1):c.4062C>T (p.Phe1354=)
NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln) rs141011435
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=)
NM_000088.4(COL1A1):c.4347C>T (p.Ala1449=)
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)
NM_000088.4(COL1A1):c.529G>A (p.Val177Met)
NM_000088.4(COL1A1):c.544-19dup
NM_000088.4(COL1A1):c.622C>G (p.Pro208Ala)
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
NM_000088.4(COL1A1):c.858+20T>A
NM_000088.4(COL1A1):c.876T>C (p.Pro292=)
NM_000088.4(COL1A1):c.957+17C>T
NM_000089.4(COL1A2):c.1863+6dup
NM_000089.4(COL1A2):c.2025+14del
NM_000089.4(COL1A2):c.2079+15dup
NM_000089.4(COL1A2):c.2133+12C>A rs554520173
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly) rs200278401
NM_000089.4(COL1A2):c.71-7del rs144776919
NM_000089.4(COL1A2):c.71-7dup rs144776919
NM_000089.4(COL1A2):c.71-8_71-7dup rs144776919
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.81+17_81+18del rs1791612191
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln) rs762041707
NM_000346.4(SOX9):c.1060C>T (p.Pro354Ser)
NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys)
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.1419G>A (p.Gln473=)
NM_000346.4(SOX9):c.1435C>T (p.Pro479Ser)
NM_000346.4(SOX9):c.201C>G (p.Asp67Glu)
NM_000346.4(SOX9):c.372G>C (p.Ala124=) rs745780363
NM_000346.4(SOX9):c.431+17del
NM_000346.4(SOX9):c.504C>T (p.Asp168=)
NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)
NM_000346.4(SOX9):c.875A>C (p.Asn292Thr)
NM_000346.4(SOX9):c.902A>G (p.Asn301Ser)
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_000474.4(TWIST1):c.489C>G (p.Leu163=)
NM_001015880.2(PAPSS2):c.145+14AT[10] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[6] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[7] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[8] rs72025574
NM_001015880.2(PAPSS2):c.381+20_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+24del rs367885911
NM_001015880.2(PAPSS2):c.612C>T (p.His204=)
NM_001015880.2(PAPSS2):c.865+17G>A rs2302405
NM_001040167.2(LFNG):c.1104G>A (p.Pro368=) rs544123371
NM_001128225.3(SLC39A13):c.786+24dup
NM_001130144.3(LTBP3):c.1187-15del rs754347924
NM_001130144.3(LTBP3):c.1531+15dup rs539958151
NM_001130144.3(LTBP3):c.1532-3del rs2135152686
NM_001130144.3(LTBP3):c.1846+6C>G rs760385371
NM_001130144.3(LTBP3):c.1846+7G>T rs371976916
NM_001130144.3(LTBP3):c.2353+18del
NM_001130144.3(LTBP3):c.2977+10C>G rs202235144
NM_001130144.3(LTBP3):c.3106+14C>A rs79476747
NM_001130144.3(LTBP3):c.3106+16dup
NM_001130144.3(LTBP3):c.331+14del
NM_001130144.3(LTBP3):c.3761-15C>T rs376049741
NM_001130144.3(LTBP3):c.662-16C>T
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001203.3(BMPR1B):c.906G>C (p.Leu302=)
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001271938.2(MEGF8):c.333C>T (p.Ile111=)
NM_001271938.2(MEGF8):c.3350+16dup
NM_001271938.2(MEGF8):c.5344-14del
NM_001271938.2(MEGF8):c.5489-18T>C
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
NM_001271938.2(MEGF8):c.5720+11C>T
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6482-16A>G
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
NM_001271938.2(MEGF8):c.828+11del rs2147449280
NM_001278689.2(EOGT):c.1152+10del
NM_001278689.2(EOGT):c.516-18T>C
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
NM_001278689.2(EOGT):c.807C>T (p.Asp269=)
NM_001374353.1(GLI2):c.2088C>T (p.Ser696=)
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.3552G>A (p.Thr1184=)
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe) rs1553479775
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu) rs148902971
NM_001374353.1(GLI2):c.4677C>T (p.Ala1559=)
NM_001374353.1(GLI2):c.643+16C>G rs6718382
NM_001374353.1(GLI2):c.66C>T (p.Ala22=)
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
NM_001429.4(EP300):c.1047C>T (p.His349=)
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1283-19dup
NM_001429.4(EP300):c.1283-6C>G
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
NM_001429.4(EP300):c.1456G>A (p.Val486Met)
NM_001429.4(EP300):c.156A>G (p.Glu52=)
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn) rs547550163
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
NM_001429.4(EP300):c.1878+19dup
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
NM_001429.4(EP300):c.2053+18T>C
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.208A>G (p.Met70Val)
NM_001429.4(EP300):c.2131+18_2131+19inv
NM_001429.4(EP300):c.2131+24dup rs766192274
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
NM_001429.4(EP300):c.222A>T (p.Ala74=)
NM_001429.4(EP300):c.2237A>G (p.Asn746Ser)
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
NM_001429.4(EP300):c.2505A>G (p.Val835=)
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
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.2789C>T (p.Pro930Leu)
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
NM_001429.4(EP300):c.2981C>T (p.Pro994Leu)
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
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.3045A>G (p.Arg1015=)
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
NM_001429.4(EP300):c.3135G>A (p.Lys1045=)
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.31C>T (p.Pro11Ser)
NM_001429.4(EP300):c.3262-13C>T
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.33T>A (p.Pro11=)
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
NM_001429.4(EP300):c.372C>T (p.Ser124=)
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3811G>A (p.Val1271Ile)
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
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.410G>C (p.Gly137Ala)
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
NM_001429.4(EP300):c.4236A>G (p.Ala1412=)
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4863C>T (p.Cys1621=)
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
NM_001429.4(EP300):c.5016A>G (p.Glu1672=)
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
NM_001429.4(EP300):c.5737A>C (p.Thr1913Pro)
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
NM_001429.4(EP300):c.605G>A (p.Arg202Gln)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
NM_001429.4(EP300):c.63G>C (p.Pro21=)
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
NM_001429.4(EP300):c.6447A>G (p.Gln2149=)
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
NM_001429.4(EP300):c.6591A>G (p.Ala2197=)
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
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.6921G>A (p.Val2307=)
NM_001429.4(EP300):c.6975C>G (p.Ser2325=)
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
NM_001429.4(EP300):c.7129G>A (p.Ala2377Thr)
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7186A>G (p.Ser2396Gly)
NM_001429.4(EP300):c.7192G>A (p.Asp2398Asn)
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.750C>T (p.Pro250=)
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
NM_001429.4(EP300):c.80C>T (p.Ala27Val)
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
NM_001429.4(EP300):c.933G>A (p.Gln311=)
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
NM_001429.4(EP300):c.963A>G (p.Gln321=)
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.177G>A (p.Ala59=)
NM_003036.4(SKI):c.183G>A (p.Pro61=)
NM_003995.4(NPR2):c.2712+11_2712+19del rs58759471
NM_003995.4(NPR2):c.2901T>G (p.Ala967=)
NM_003995.4(NPR2):c.915G>A (p.Glu305=) rs773637376
NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr)
NM_004239.4(TRIP11):c.202-5del
NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile) rs373362974
NM_004239.4(TRIP11):c.4892+10del rs794727098
NM_004239.4(TRIP11):c.4893-9del
NM_004239.4(TRIP11):c.5260+12del
NM_004239.4(TRIP11):c.5260+12dup
NM_004239.4(TRIP11):c.588+11del rs750898619
NM_004239.4(TRIP11):c.588+17dup
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.1131+9G>A rs373765596
NM_004260.4(RECQL4):c.1132-3del
NM_004260.4(RECQL4):c.1132-8dup rs747674070
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.4(RECQL4):c.1484-7del rs772909792
NM_004260.4(RECQL4):c.2059-8_2059-6del rs558061753
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2601C>G (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.274_275delinsCT (p.Ser92Leu) rs587778649
NM_004260.4(RECQL4):c.2756-3dup
NM_004260.4(RECQL4):c.3055+19del rs1564790269
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3393+8_3393+9inv
NM_004260.4(RECQL4):c.3503-20GT[3] rs755908070
NM_004260.4(RECQL4):c.3563T>C (p.Leu1188Pro) rs535259922
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.465G>C (p.Gln155His)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
NM_004380.3(CREBBP):c.1509G>T (p.Gln503His)
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
NM_004380.3(CREBBP):c.1941+18G>A
NM_004380.3(CREBBP):c.1942-17A>G
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
NM_004380.3(CREBBP):c.2056C>T (p.Pro686Ser)
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.216G>T (p.Glu72Asp)
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2266A>G (p.Met756Val)
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
NM_004380.3(CREBBP):c.2577T>C (p.Pro859=)
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
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.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
NM_004380.3(CREBBP):c.2911A>G (p.Arg971Gly)
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
NM_004380.3(CREBBP):c.2964A>G (p.Pro988=)
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser) rs886042430
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
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.3232T>C (p.Ser1078Pro)
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
NM_004380.3(CREBBP):c.3498C>G (p.Leu1166=)
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
NM_004380.3(CREBBP):c.3594T>C (p.Tyr1198=)
NM_004380.3(CREBBP):c.3690T>C (p.Tyr1230=)
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
NM_004380.3(CREBBP):c.411A>T (p.Ala137=)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.417C>T (p.Ser139=)
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
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.486G>A (p.Ala162=)
NM_004380.3(CREBBP):c.4890+16G>A
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
NM_004380.3(CREBBP):c.57G>T (p.Ser19=)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)
NM_004380.3(CREBBP):c.6039G>A (p.Met2013Ile)
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
NM_004380.3(CREBBP):c.6087G>A (p.Gln2029=)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6157A>G (p.Met2053Val)
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)
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.6693C>T (p.Phe2231=)
NM_004380.3(CREBBP):c.6712G>A (p.Gly2238Arg)
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
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.7126G>A (p.Val2376Ile)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.7266C>T (p.Ser2422=)
NM_004380.3(CREBBP):c.7275C>G (p.Ser2425=)
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
NM_004380.3(CREBBP):c.962A>G (p.Asn321Ser)
NM_004380.3(CREBBP):c.976-3del
NM_005105.5(RBM8A):c.127+21dup
NM_005105.5(RBM8A):c.206-13del
NM_005105.5(RBM8A):c.206-13dup
NM_005105.5(RBM8A):c.206-20T>C rs117017431
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006371.5(CRTAP):c.623G>A (p.Ser208Asn) rs574565076
NM_006494.4(ERF):c.408G>A (p.Pro136=)
NM_006494.4(ERF):c.615C>G (p.Arg205=) rs11557114
NM_012330.4(KAT6B):c.104C>T (p.Ala35Val)
NM_012330.4(KAT6B):c.1388G>A (p.Arg463His)
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)
NM_012330.4(KAT6B):c.1684C>T (p.His562Tyr)
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val)
NM_012330.4(KAT6B):c.2042T>A (p.Val681Glu)
NM_012330.4(KAT6B):c.2084T>C (p.Val695Ala)
NM_012330.4(KAT6B):c.2124G>C (p.Glu708Asp)
NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys)
NM_012330.4(KAT6B):c.2373+23del
NM_012330.4(KAT6B):c.2373+6C>T rs192506542
NM_012330.4(KAT6B):c.2612G>A (p.Arg871Gln)
NM_012330.4(KAT6B):c.2744A>G (p.Tyr915Cys)
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) rs147643220
NM_012330.4(KAT6B):c.2950A>T (p.Ser984Cys)
NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr) rs776774212
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser)
NM_012330.4(KAT6B):c.3146C>T (p.Pro1049Leu)
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3316A>G (p.Ile1106Val)
NM_012330.4(KAT6B):c.3409C>A (p.Arg1137Ser)
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn)
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012330.4(KAT6B):c.4099G>C (p.Glu1367Gln)
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) rs751483850
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg)
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.4279G>T (p.Asp1427Tyr)
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_012330.4(KAT6B):c.4376T>C (p.Phe1459Ser)
NM_012330.4(KAT6B):c.4397C>G (p.Pro1466Arg)
NM_012330.4(KAT6B):c.4423A>G (p.Met1475Val) rs774593261
NM_012330.4(KAT6B):c.4447G>C (p.Ala1483Pro)
NM_012330.4(KAT6B):c.4486C>A (p.Pro1496Thr)
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) rs2134241318
NM_012330.4(KAT6B):c.4534G>C (p.Ala1512Pro)
NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala)
NM_012330.4(KAT6B):c.4609A>G (p.Ile1537Val)
NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys)
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn)
NM_012330.4(KAT6B):c.4730G>A (p.Arg1577His)
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile)
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys)
NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=)
NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser)
NM_012330.4(KAT6B):c.592G>C (p.Val198Leu)
NM_012330.4(KAT6B):c.6130G>A (p.Gly2044Ser)
NM_012330.4(KAT6B):c.6149C>T (p.Ala2050Val)
NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr)
NM_012330.4(KAT6B):c.730+19A>G
NM_012330.4(KAT6B):c.731-11del rs772911843
NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr)
NM_012330.4(KAT6B):c.799A>G (p.Ile267Val)
NM_012330.4(KAT6B):c.846T>C (p.Ala282=)
NM_012330.4(KAT6B):c.928+6C>G
NM_012330.4(KAT6B):c.933G>C (p.Met311Ile)
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.2244+19T>C
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_015139.3(SLC35D1):c.244G>A (p.Ala82Thr) rs10157422
NM_015139.3(SLC35D1):c.393-3del rs199880356
NM_015139.3(SLC35D1):c.393-5del rs5774854
NM_015139.3(SLC35D1):c.393-5dup rs5774854
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.399-15dup
NM_016277.5(RAB23):c.481+17G>A
NM_017617.5(NOTCH1):c.1002G>A (p.Glu334=)
NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)
NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=)
NM_017617.5(NOTCH1):c.1156A>G (p.Asn386Asp)
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
NM_017617.5(NOTCH1):c.1239G>A (p.Val413=)
NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val)
NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=) rs1466608110
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.1441+11C>T rs376506127
NM_017617.5(NOTCH1):c.1453G>A (p.Val485Met)
NM_017617.5(NOTCH1):c.1472C>T (p.Thr491Ile)
NM_017617.5(NOTCH1):c.1483G>A (p.Ala495Thr)
NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu)
NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln)
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His)
NM_017617.5(NOTCH1):c.1719C>A (p.Asp573Glu) rs1002136018
NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=)
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1768C>T (p.Leu590Phe)
NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr)
NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=)
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn) rs368996332
NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=)
NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=)
NM_017617.5(NOTCH1):c.2157G>A (p.Glu719=)
NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=)
NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile)
NM_017617.5(NOTCH1):c.2227C>G (p.Pro743Ala)
NM_017617.5(NOTCH1):c.2328G>A (p.Val776=)
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)
NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile)
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)
NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met)
NM_017617.5(NOTCH1):c.2424C>T (p.Asp808=)
NM_017617.5(NOTCH1):c.2427C>G (p.Asp809Glu)
NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser)
NM_017617.5(NOTCH1):c.2467+17dup
NM_017617.5(NOTCH1):c.247G>A (p.Ala83Thr)
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=)
NM_017617.5(NOTCH1):c.2587+19C>G rs577190264
NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=)
NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=)
NM_017617.5(NOTCH1):c.2740+13G>A
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=)
NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His)
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=)
NM_017617.5(NOTCH1):c.2952G>A (p.Thr984=)
NM_017617.5(NOTCH1):c.2970-7del rs34868738
NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=)
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr) rs746491686
NM_017617.5(NOTCH1):c.3060C>T (p.His1020=)
NM_017617.5(NOTCH1):c.329C>T (p.Pro110Leu)
NM_017617.5(NOTCH1):c.335G>T (p.Arg112Leu)
NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=) rs753526994
NM_017617.5(NOTCH1):c.3465G>A (p.Gln1155=)
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn) rs745590123
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3643+16C>T
NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr) rs1327576450
NM_017617.5(NOTCH1):c.3662A>G (p.Asn1221Ser)
NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser)
NM_017617.5(NOTCH1):c.3690C>T (p.Asp1230=)
NM_017617.5(NOTCH1):c.369G>A (p.Thr123=)
NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val)
NM_017617.5(NOTCH1):c.3788G>T (p.Arg1263Leu)
NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=)
NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu)
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3901+11C>T
NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile)
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
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.4020C>T (p.Phe1340=)
NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys)
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg) rs201215245
NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=)
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg) rs778270588
NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu)
NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp)
NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=)
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=)
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)
NM_017617.5(NOTCH1):c.4446C>T (p.Asn1482=)
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser)
NM_017617.5(NOTCH1):c.4587-10dup rs766780122
NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn)
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
NM_017617.5(NOTCH1):c.4692T>C (p.His1564=)
NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=)
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr)
NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=)
NM_017617.5(NOTCH1):c.4836C>T (p.Gly1612=)
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.4903G>A (p.Ala1635Thr)
NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=)
NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=)
NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=)
NM_017617.5(NOTCH1):c.4959C>T (p.Leu1653=)
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln)
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=)
NM_017617.5(NOTCH1):c.5136C>T (p.Leu1712=)
NM_017617.5(NOTCH1):c.513T>C (p.His171=)
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=)
NM_017617.5(NOTCH1):c.5280C>T (p.Arg1760=)
NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg)
NM_017617.5(NOTCH1):c.5347C>A (p.Arg1783=)
NM_017617.5(NOTCH1):c.5415C>T (p.Leu1805=)
NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=)
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly)
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.555G>A (p.Lys185=)
NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr) rs200603539
NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=)
NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile)
NM_017617.5(NOTCH1):c.569G>A (p.Arg190His) rs761616770
NM_017617.5(NOTCH1):c.5700C>T (p.Ser1900=)
NM_017617.5(NOTCH1):c.5829C>T (p.Ala1943=)
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=)
NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=)
NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=)
NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile)
NM_017617.5(NOTCH1):c.6087G>A (p.Lys2029=)
NM_017617.5(NOTCH1):c.61+19G>A rs957002412
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu)
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val)
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)
NM_017617.5(NOTCH1):c.6342C>T (p.Asp2114=)
NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg)
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.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=)
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)
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.6478A>G (p.Lys2160Glu)
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp)
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val)
NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val)
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met) rs754236791
NM_017617.5(NOTCH1):c.65C>T (p.Pro22Leu)
NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=)
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=)
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6747G>A (p.Val2249=) rs751544476
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=)
NM_017617.5(NOTCH1):c.6801G>A (p.Glu2267=)
NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=)
NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser)
NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys)
NM_017617.5(NOTCH1):c.6959C>T (p.Pro2320Leu)
NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val)
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=)
NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser)
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys) rs767497870
NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu)
NM_017617.5(NOTCH1):c.7261G>A (p.Val2421Met)
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
NM_017617.5(NOTCH1):c.743-12del rs774029678
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)
NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=) rs774222164
NM_017617.5(NOTCH1):c.855A>G (p.Pro285=)
NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)
NM_017617.5(NOTCH1):c.891C>T (p.Asp297=)
NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg) rs895972070
NM_018475.5(TMEM165):c.208-5del rs770787680
NM_018475.5(TMEM165):c.208-5dup rs770787680
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
NM_020436.5(SALL4):c.2742+16C>T
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1846-11dup rs754138477
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
NM_020779.4(WDR35):c.308-17dup
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) rs28709752
NM_022166.4(XYLT1):c.1588-28_1588-3dup rs545474455
NM_022166.4(XYLT1):c.2028-16G>C
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=) rs7201590
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=) rs34511974
NM_022166.4(XYLT1):c.366T>C (p.Asp122=)
NM_022166.4(XYLT1):c.402+18C>T rs111904908
NM_022166.4(XYLT1):c.630G>A (p.Gly210=)
NM_022166.4(XYLT1):c.913+15del rs2141757493
NM_022168.4(IFIH1):c.1096-19del
NM_022168.4(IFIH1):c.1096-4del rs1453617092
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=) rs12479043
NM_022168.4(IFIH1):c.1524+18G>A
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.1642-3del
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1766-6del rs548261817
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu) rs539777490
NM_022168.4(IFIH1):c.770-10del
NM_022168.4(IFIH1):c.875-11A>C rs186664431
NM_022168.4(IFIH1):c.936A>G (p.Gln312=)
NM_022356.4(P3H1):c.1915-21dup
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.618+10dup
NM_022356.4(P3H1):c.618+9_618+10del
NM_022356.4(P3H1):c.618+9_618+10dup rs760593141
NM_023110.3(FGFR1):c.136C>T (p.His46Tyr)
NM_023110.3(FGFR1):c.1430+7_1430+9del rs772340109
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1710+16C>T
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.1711-20dup rs35103377
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.817-11dup
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
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.2562-3del
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.1631-11del
NM_213599.3(ANO5):c.1631-11dup rs202244923
NM_213599.3(ANO5):c.2029+9dup
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-11_2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-12_2236-10del rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.295-8del
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.364-8dup rs146983312
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NR_003051.3(RMRP):n.268del rs549047941
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.54dup rs151011853

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