NM_004813.4(PEX16):c.346G>A (p.Val116Ile)
|
rs10742772
|
0.99994
|
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)
|
rs507329
|
0.99944
|
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg)
|
rs9514066
|
0.99822
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn)
|
rs526433
|
0.99235
|
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)
|
rs10087163
|
0.98578
|
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)
|
rs10282312
|
0.98349
|
NM_000288.4(PEX7):c.340-71G>A
|
rs927181
|
0.98050
|
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp)
|
rs2131107
|
0.97526
|
NM_198428.3(BBS9):c.1329+1606C>T
|
rs6974593
|
0.97489
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=)
|
rs2738787
|
0.94528
|
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu)
|
rs3747869
|
0.90370
|
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu)
|
rs13277
|
0.87545
|
NM_000211.5(ITGB2):c.148-1089A>G
|
rs760462
|
0.87259
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_203285.2(NECTIN1):c.1082T>G (p.Val361Gly)
|
rs7940667
|
0.86377
|
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)
|
rs2064318
|
0.84569
|
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser)
|
rs2655655
|
0.84544
|
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp)
|
rs10778752
|
0.84044
|
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)
|
rs1227065
|
0.79969
|
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro)
|
rs12882191
|
0.79682
|
NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu)
|
rs2073347
|
0.78250
|
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)
|
rs10178458
|
0.77314
|
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly)
|
rs1893566
|
0.75216
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)
|
rs9548509
|
0.73365
|
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)
|
rs1227051
|
0.73017
|
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)
|
rs13045
|
0.71334
|
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu)
|
rs28522910
|
0.69466
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
NM_001384474.1(LOXHD1):c.4530+107A>G
|
rs1450425
|
0.66249
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.60691
|
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser)
|
rs1999240
|
0.60118
|
NM_182961.4(SYNE1):c.11734-5T>G
|
rs9478320
|
0.59305
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
NM_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56892
|
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)
|
rs7216
|
0.56713
|
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe)
|
rs10883100
|
0.53113
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)
|
rs7918487
|
0.51842
|
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn)
|
rs3758449
|
0.51636
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)
|
rs1064074
|
0.48497
|
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala)
|
rs3744998
|
0.46686
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870
|
0.45079
|
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)
|
rs59332477
|
0.43789
|
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
NM_144508.5(KNL1):c.2583T>G (p.Thr861=)
|
rs8041534
|
0.38951
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)
|
rs2064317
|
0.36637
|
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro)
|
rs3747862
|
0.36326
|
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)
|
rs1875845
|
0.36167
|
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)
|
rs13031859
|
0.35740
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)
|
rs2307394
|
0.32301
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly)
|
rs2287499
|
0.32078
|
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)
|
rs1191778
|
0.31383
|
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys)
|
rs10019009
|
0.29735
|
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026
|
0.28442
|
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)
|
rs4747195
|
0.27841
|
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser)
|
rs9411313
|
0.27092
|
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg)
|
rs667782
|
0.26652
|
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)
|
rs17849995
|
0.25469
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22813
|
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile)
|
rs13706
|
0.22496
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys)
|
rs867529
|
0.22211
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro)
|
rs17704703
|
0.20017
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)
|
rs2274158
|
0.19185
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_170707.4(LMNA):c.357-739T>G
|
rs513043
|
0.18886
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)
|
rs1800866
|
0.17661
|
NM_005708.5(GPC6):c.1234G>A (p.Val412Met)
|
rs1535692
|
0.17412
|
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)
|
rs1138484
|
0.17151
|
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)
|
rs4935502
|
0.15952
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)
|
rs3802711
|
0.14136
|
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT
|
rs773069537
|
0.12949
|
NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser)
|
rs6834
|
0.12646
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu)
|
rs2295847
|
0.10087
|
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)
|
rs12339210
|
0.09351
|
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)
|
rs3807153
|
0.09195
|
NM_001395413.1(POR):c.6A>G (p.Gly2=)
|
rs10262966
|
0.07713
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)
|
rs2293669
|
0.05563
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)
|
rs36117895
|
0.03931
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln)
|
rs138924815
|
0.00931
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000211.5(ITGB2):c.329-6C>T
|
rs9983887
|
0.00876
|
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)
|
rs61761068
|
0.00859
|
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
|
rs5030672
|
0.00847
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln)
|
rs61741195
|
0.00743
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00626
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)
|
rs35836343
|
0.00427
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His)
|
rs117612144
|
0.00347
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_001048174.2(MUTYH):c.1103-27C>T
|
rs3219490
|
0.00300
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000057.4(BLM):c.1088-40T>C
|
rs184128669
|
0.00278
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro)
|
rs191267920
|
0.00253
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)
|
rs4150318
|
0.00111
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_001128425.2(MUTYH):c.36+214G>C
|
rs568514678
|
0.00096
|
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)
|
rs191913664
|
0.00096
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000601.6(HGF):c.1891G>A (p.Val631Met)
|
rs145494248
|
0.00053
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)
|
rs113684274
|
0.00050
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_002485.5(NBN):c.-26G>A
|
rs201392451
|
0.00045
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00039
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)
|
rs77086616
|
0.00029
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00020
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_206933.4(USH2A):c.2633G>A (p.Arg878His)
|
rs200124505
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_001048174.2(MUTYH):c.-6-7G>A
|
rs780029247
|
0.00010
|
NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu)
|
rs587780079
|
0.00010
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)
|
rs761897806
|
0.00009
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_016038.4(SBDS):c.388G>A (p.Val130Met)
|
rs201070132
|
0.00009
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_000057.4(BLM):c.114A>G (p.Lys38=)
|
rs770017301
|
0.00006
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)
|
rs527291754
|
0.00006
|
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)
|
rs376579860
|
0.00006
|
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
rs104895088
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)
|
rs551602980
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)
|
rs372454889
|
0.00005
|
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)
|
rs767327888
|
0.00005
|
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln)
|
rs781812509
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000553.6(WRN):c.3437C>T (p.Ser1146Leu)
|
rs779264260
|
0.00004
|
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val)
|
rs146861737
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_001048174.2(MUTYH):c.421-2A>C
|
rs786203161
|
0.00004
|
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)
|
rs587780748
|
0.00004
|
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)
|
rs759295912
|
0.00004
|
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)
|
rs63750428
|
0.00004
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_000057.4(BLM):c.2106T>A (p.Pro702=)
|
rs529421306
|
0.00003
|
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs)
|
rs758886088
|
0.00003
|
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro)
|
rs780538610
|
0.00003
|
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys)
|
rs777842626
|
0.00003
|
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)
|
rs104895096
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)
|
rs587780081
|
0.00003
|
NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg)
|
rs1212933615
|
0.00003
|
NM_001128425.2(MUTYH):c.36+179G>T
|
rs1418696430
|
0.00003
|
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)
|
rs750066836
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr)
|
rs186371605
|
0.00003
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
NM_002485.5(NBN):c.80G>T (p.Gly27Val)
|
rs755171159
|
0.00003
|
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)
|
rs1313593155
|
0.00003
|
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
|
rs773968778
|
0.00003
|
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)
|
rs538343832
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter)
|
rs775868003
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_024417.5(FDXR):c.980G>A (p.Arg327His)
|
rs752410856
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)
|
rs1024177161
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_000057.4(BLM):c.3019+17T>C
|
rs532036885
|
0.00002
|
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
|
rs761320085
|
0.00002
|
NM_000057.4(BLM):c.963G>A (p.Thr321=)
|
rs779461745
|
0.00002
|
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)
|
rs376411022
|
0.00002
|
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
rs190405488
|
0.00002
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)
|
rs587781645
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_005548.3(KARS1):c.1430G>A (p.Arg477His)
|
rs778748895
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1691+2dup
|
rs753232747
|
0.00002
|
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)
|
rs765376986
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)
|
rs1596229797
|
0.00001
|
NM_000057.4(BLM):c.1613C>T (p.Ala538Val)
|
rs778593808
|
0.00001
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
0.00001
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr)
|
rs763918749
|
0.00001
|
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)
|
rs758692622
|
0.00001
|
NM_000057.4(BLM):c.2784T>C (p.Asp928=)
|
rs1032746564
|
0.00001
|
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr)
|
rs1060500647
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000057.4(BLM):c.3875-6T>C
|
rs1021714718
|
0.00001
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
NM_000057.4(BLM):c.635C>T (p.Ser212Phe)
|
rs777938065
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)
|
rs104895104
|
0.00001
|
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val)
|
rs104895191
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg)
|
rs765450054
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)
|
rs104895119
|
0.00001
|
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)
|
rs387907567
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)
|
rs1173853484
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2972del (p.Gln991fs)
|
rs1567948623
|
0.00001
|
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)
|
rs1046046139
|
0.00001
|
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)
|
rs61753211
|
0.00001
|
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)
|
rs779997983
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2252G>A (p.Arg751His)
|
rs397508357
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.325T>C (p.Tyr109His)
|
rs397508522
|
0.00001
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn)
|
rs397508825
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000553.6(WRN):c.1351-1G>A
|
rs1170732591
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)
|
rs587778539
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+42_1102+43del
|
rs775033999
|
0.00001
|
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)
|
rs199575659
|
0.00001
|
NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=)
|
rs756708148
|
0.00001
|
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys)
|
rs200747973
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)
|
rs537292657
|
0.00001
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
NM_001048174.2(MUTYH):c.903G>C (p.Val301=)
|
rs749048388
|
0.00001
|
NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser)
|
rs754178539
|
0.00001
|
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)
|
rs541195377
|
0.00001
|
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
|
rs1178243254
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3279+1G>A
|
rs1489634479
|
0.00001
|
NM_001184.4(ATR):c.6259A>G (p.Met2087Val)
|
rs757353909
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
|
rs1674967197
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)
|
rs1572924733
|
0.00001
|
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)
|
rs782138777
|
0.00001
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)
|
rs776900339
|
0.00001
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
NM_002485.5(NBN):c.1902T>G (p.Ala634=)
|
rs876660052
|
0.00001
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)
|
rs922800309
|
0.00001
|
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)
|
rs782262926
|
0.00001
|
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)
|
rs527236079
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)
|
rs1415687857
|
0.00001
|
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)
|
rs1406678014
|
0.00001
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)
|
rs765235707
|
0.00001
|
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)
|
rs1348186141
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)
|
rs758239674
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_025077.4(TOE1):c.52+130A>G
|
rs1215187269
|
0.00001
|
NM_025077.4(TOE1):c.52+97G>A
|
rs992028783
|
0.00001
|
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys)
|
rs767873726
|
0.00001
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NC_000007.14:g.117664688_117667108del
|
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000057.4(BLM):c.1043dup (p.Met348fs)
|
rs1567038003
|
|
NM_000057.4(BLM):c.1088-35C>T
|
rs1359919212
|
|
NM_000057.4(BLM):c.1088-38C>T
|
rs758949040
|
|
NM_000057.4(BLM):c.1088-39C>T
|
rs878957002
|
|
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp)
|
rs1596228991
|
|
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)
|
rs200688933
|
|
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)
|
rs751600686
|
|
NM_000057.4(BLM):c.14C>T (p.Pro5Leu)
|
rs1567034056
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro)
|
rs1567042153
|
|
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)
|
rs377563699
|
|
NM_000057.4(BLM):c.1972A>G (p.Ile658Val)
|
rs1567042248
|
|
NM_000057.4(BLM):c.199G>A (p.Val67Ile)
|
rs991350762
|
|
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)
|
rs1596232266
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2074+56G>A
|
rs942432763
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
NM_000057.4(BLM):c.2362C>G (p.Leu788Val)
|
rs149754073
|
|
NM_000057.4(BLM):c.241A>G (p.Thr81Ala)
|
rs1060500637
|
|
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser)
|
rs1567052169
|
|
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs)
|
rs1567052178
|
|
NM_000057.4(BLM):c.2663-2A>G
|
rs1567053170
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr)
|
rs1567058281
|
|
NM_000057.4(BLM):c.3163dup (p.Cys1055fs)
|
rs2151187381
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)
|
rs1567060305
|
|
NM_000057.4(BLM):c.3587del (p.Ser1196fs)
|
rs367543018
|
|
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter)
|
rs1567068960
|
|
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr)
|
rs1567069030
|
|
NM_000057.4(BLM):c.532G>A (p.Val178Ile)
|
rs1191794374
|
|
NM_000057.4(BLM):c.615G>C (p.Lys205Asn)
|
rs28903082
|
|
NM_000057.4(BLM):c.645C>G (p.Ser215Arg)
|
rs56218710
|
|
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)
|
rs587779895
|
|
NM_000057.4(BLM):c.842A>G (p.His281Arg)
|
rs202042636
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala)
|
rs766935732
|
|
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)
|
rs1574699782
|
|
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly)
|
rs1595383704
|
|
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)
|
rs1595382501
|
|
NM_000163.5(GHR):c.484G>A (p.Val162Ile)
|
rs6413484
|
|
NM_000180.4(GUCY2D):c.1957-2A>G
|
rs945734402
|
|
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)
|
rs1424348888
|
|
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)
|
rs61750172
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000232.5(SGCB):c.243+2T>C
|
rs1553940661
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
NM_000232.5(SGCB):c.753+5G>A
|
rs936193061
|
|
NM_000243.3(MEFV):c.-12C>G
|
rs104895148
|
|
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro)
|
rs1218172738
|
|
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)
|
rs104895149
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)
|
rs104895207
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp)
|
rs1596352746
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)
|
rs104895168
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
rs141706767
|
|
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe)
|
rs1332372034
|
|
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn)
|
rs766576175
|
|
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)
|
rs967990798
|
|
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly)
|
rs387907568
|
|
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)
|
rs104895086
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)
|
rs104895090
|
|
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
rs387907570
|
|
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)
|
rs104895098
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)
|
rs61752717
|
|
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys)
|
rs1596350022
|
|
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met)
|
rs104895094
|
|
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)
|
rs104895166
|
|
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met)
|
rs1596349932
|
|
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)
|
rs104895192
|
|
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser)
|
rs774807554
|
|
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)
|
rs387907565
|
|
NM_000243.3(MEFV):c.2330dup (p.Gln778fs)
|
rs1596349724
|
|
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)
|
rs150819742
|
|
NM_000243.3(MEFV):c.25C>T (p.Leu9=)
|
rs104895146
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
|
rs104895121
|
|
NM_000243.3(MEFV):c.383A>T (p.Glu128Val)
|
rs201172310
|
|
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)
|
rs876660989
|
|
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)
|
rs104895190
|
|
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)
|
rs104895106
|
|
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)
|
rs104895125
|
|
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg)
|
rs104895134
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs)
|
rs104895180
|
|
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)
|
rs104895080
|
|
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.739A>G (p.Ile247Val)
|
rs1472692347
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)
|
rs104895132
|
|
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly)
|
rs104895167
|
|
NM_000254.3(MTR):c.*16del
|
rs67705775
|
|
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)
|
rs1664521219
|
|
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)
|
rs1413989228
|
|
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr)
|
rs782432573
|
|
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs)
|
rs1591287317
|
|
NM_000260.4(MYO7A):c.183del (p.Thr62fs)
|
rs1446588093
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2750del (p.Glu917fs)
|
rs1591378140
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
NM_000260.4(MYO7A):c.6439-1G>A
|
rs1591514873
|
|
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del)
|
rs1599011473
|
|
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)
|
rs1160114136
|
|
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)
|
rs1169032037
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
NM_000277.1(PAH):c.[353-507G>T;754C>T]
|
|
|
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)
|
rs1592947563
|
|
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)
|
rs1592947538
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.239dup (p.Thr81fs)
|
rs1592978816
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000281.4(PCBD1):c.272del (p.Asn91fs)
|
rs1589483932
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000302.4(PLOD1):c.1479dup (p.Met494fs)
|
rs1569724692
|
|
NM_000320.3(QDPR):c.174del (p.Ser59fs)
|
rs1577195951
|
|
NM_000320.3(QDPR):c.421del (p.Leu141fs)
|
rs1577191558
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)
|
rs1571164534
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys)
|
rs376659221
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly)
|
rs1590170978
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.724C>T (p.Leu242Phe)
|
rs1457094087
|
|
NM_000360.4(TH):c.815T>G (p.Leu272Arg)
|
rs775410637
|
|
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)
|
rs982650476
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
|
|
|
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
|
|
|
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
|
rs2126696915
|
|
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe)
|
rs1307944675
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
|
|
|
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
|
|
|
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2989_3139del151
|
rs1562914028
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.3(CFTR):c.54_164del111
|
rs1562882675
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs)
|
rs1562892359
|
|
NM_000492.4(CFTR):c.1115del (p.Gln372fs)
|
rs1562892387
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>T
|
rs397508158
|
|
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1197del (p.Phe400fs)
|
rs1562892895
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1211_1392+1del
|
rs1562894928
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1279A>C (p.Ser427Arg)
|
rs1584793492
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.147_150del (p.Ser50fs)
|
rs1562882755
|
|
NM_000492.4(CFTR):c.1486del (p.Trp496fs)
|
rs1584798316
|
|
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser)
|
rs397508222
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg)
|
rs1562898465
|
|
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs)
|
rs1562898471
|
|
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs)
|
rs1562898489
|
|
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys)
|
rs1562898496
|
|
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp)
|
rs1562898510
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1586_1679+1del
|
rs1562906265
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1656del (p.Gln552fs)
|
rs397508253
|
|
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)
|
rs397508256
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)
|
rs121909006
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser)
|
rs1562907260
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.243del (p.Phe81fs)
|
rs1562884046
|
|
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)
|
rs397508381
|
|
NM_000492.4(CFTR):c.2492_2619+1del
|
rs1562908889
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)
|
rs397508422
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.275_489+1del
|
rs1562889180
|
|
NM_000492.4(CFTR):c.275_579+1del
|
|
|
NM_000492.4(CFTR):c.2812dup (p.Val938fs)
|
rs1562911661
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs)
|
rs1562911739
|
|
NM_000492.4(CFTR):c.2911_3367+2del
|
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2989-3C>G
|
rs397508471
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.2T>G (p.Met1Arg)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)
|
rs193922731
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)
|
rs1562914107
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)
|
rs1562914200
|
|
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup)
|
rs1469768894
|
|
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)
|
rs1562914212
|
|
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg)
|
rs1562914220
|
|
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3141_3468+1del
|
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)
|
rs1562914641
|
|
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro)
|
rs1562889219
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)
|
rs77958296
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del)
|
rs1562914829
|
|
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)
|
rs1562914838
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+2T>A
|
rs397508544
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs)
|
rs397508559
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
|
rs1562923164
|
|
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)
|
rs397508601
|
|
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3874-8T>A
|
rs397508625
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3966_4242+2del
|
rs1562928854
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4028del (p.Gly1343fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg)
|
rs755993775
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)
|
rs397508699
|
|
NM_000492.4(CFTR):c.4242+5G>A
|
rs1562929196
|
|
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)
|
rs762847468
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.433del (p.Leu145fs)
|
rs1562889382
|
|
NM_000492.4(CFTR):c.4389del (p.Ile1464fs)
|
rs1584850283
|
|
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa)
|
rs1562929636
|
|
NM_000492.4(CFTR):c.4400del (p.Leu1467fs)
|
rs1562929633
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.449T>G (p.Met150Arg)
|
rs1562889397
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.490-1G>T
|
rs397508734
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.4del (p.Gln2fs)
|
rs1562876396
|
|
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu)
|
rs869249241
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580-2A>C
|
rs193922730
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg)
|
rs1562890588
|
|
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp)
|
rs769016520
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter)
|
rs1584787782
|
|
NM_000492.4(CFTR):c.866_870del (p.Arg289fs)
|
rs1562891084
|
|
NM_000492.4(CFTR):c.869+1G>T
|
rs1330431481
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.950T>A (p.Val317Glu)
|
rs1204521684
|
|
NM_000543.5(SMPD1):c.1264-1G>C
|
rs1057516454
|
|
NM_000553.6(WRN):c.839+25del
|
rs370040831
|
|
NM_000554.6(CRX):c.480_481del (p.Ser161fs)
|
rs1599991538
|
|
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
|
rs1599991611
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_001023570.4(IQCB1):c.1410+74AT[4]
|
rs1553709033
|
|
NM_001023570.4(IQCB1):c.1410+81GT[17]
|
rs57816005
|
|
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)
|
rs55745992
|
|
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)
|
rs200018583
|
|
NM_001048166.1(STIL):c.2594A>C (p.Asn865Thr)
|
rs201989960
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu)
|
rs878854183
|
|
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)
|
rs144079536
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1434+3A>T
|
rs1553123967
|
|
NM_001048174.2(MUTYH):c.14G>C (p.Arg5Pro)
|
rs587780081
|
|
NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu)
|
rs1557444106
|
|
NM_001048174.2(MUTYH):c.181G>C (p.Asp61His)
|
rs1557486724
|
|
NM_001048174.2(MUTYH):c.278T>C (p.Met93Thr)
|
rs1557484437
|
|
NM_001048174.2(MUTYH):c.337del (p.Gln113fs)
|
rs1553129638
|
|
NM_001048174.2(MUTYH):c.421-2A>G
|
rs786203161
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser)
|
rs764458059
|
|
NM_001048174.2(MUTYH):c.493-5A>T
|
rs758377868
|
|
NM_001048174.2(MUTYH):c.571A>G (p.Thr191Ala)
|
rs771064557
|
|
NM_001048174.2(MUTYH):c.606+21C>A
|
rs148552450
|
|
NM_001048174.2(MUTYH):c.606+3G>C
|
rs1553128340
|
|
NM_001048174.2(MUTYH):c.607-18_607-17del
|
rs765157527
|
|
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)
|
rs587782351
|
|
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser)
|
rs587782351
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.743G>A (p.Gly248Glu)
|
rs1557471507
|
|
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)
|
rs776988725
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001098484.3(SLC4A4):c.1904-74_1904-73del
|
rs747897537
|
|
NM_001130987.2(DYSF):c.460+2T>G
|
rs750356247
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001139.3(ALOX12B):c.435-2A>G
|
rs1598181642
|
|
NM_001145026.2(PTPRQ):c.6452_6453+2del
|
rs1419198127
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
NM_001171.6(ABCC6):c.1609del (p.Val537fs)
|
rs1596678798
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001184.4(ATR):c.1885+65ATTT[8]
|
rs56661838
|
|
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile)
|
rs1489808838
|
|
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)
|
rs771628868
|
|
NM_001283009.2(RTEL1):c.2852-1G>C
|
rs2145448526
|
|
NM_001283009.2(RTEL1):c.2992+8G>A
|
rs1236751268
|
|
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA
|
rs141721291
|
|
NM_001351132.2(PEX5):c.551+113_551+114dup
|
rs5796268
|
|
NM_001378454.1(ALMS1):c.11668+1G>T
|
rs1181992959
|
|
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)
|
rs756389027
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)
|
rs1434010689
|
|
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs)
|
rs1572970628
|
|
NM_001384140.1(PCDH15):c.1441-1G>T
|
rs2133801703
|
|
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe)
|
rs2143779274
|
|
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)
|
rs797044730
|
|
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)
|
rs281875327
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1632+3del
|
rs2154008712
|
|
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr)
|
rs1326459816
|
|
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly)
|
rs1185542329
|
|
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)
|
rs755805461
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1914+2_1914+3del
|
rs1586043528
|
|
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser)
|
rs1563513091
|
|
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)
|
rs730881864
|
|
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile)
|
rs1554555764
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
NM_002485.5(NBN):c.320+40G>T
|
rs749797574
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)
|
rs1563574056
|
|
NM_002485.5(NBN):c.584+7T>A
|
rs1057523869
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.702+1del
|
rs1586088347
|
|
NM_002485.5(NBN):c.806G>C (p.Cys269Ser)
|
rs768822147
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.97A>G (p.Ile33Val)
|
rs1563584435
|
|
NM_002617.4(PEX10):c.52G>C (p.Asp18His)
|
rs61750432
|
|
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser)
|
rs1414973726
|
|
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)
|
rs2139621988
|
|
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
|
rs1581736024
|
|
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu)
|
rs868951923
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly)
|
rs397516876
|
|
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)
|
rs1271250198
|
|
NM_004715.5(CTDP1):c.2418-207_2418-165dup
|
rs147933855
|
|
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)
|
rs1035206645
|
|
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)
|
rs1578860322
|
|
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)
|
rs1805190
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_005199.5(CHRNG):c.921-68del
|
rs10714586
|
|
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe)
|
rs868531732
|
|
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter)
|
rs1003389476
|
|
NM_005529.7(HSPG2):c.1654+5G>A
|
rs1572356343
|
|
NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs)
|
rs1572304438
|
|
NM_005687.5(FARSB):c.1408del (p.Leu470fs)
|
rs2106209945
|
|
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly)
|
rs2106230623
|
|
NM_006019.4(TCIRG1):c.504-6C>A
|
rs1028394725
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter)
|
rs752777832
|
|
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter)
|
rs199757347
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)
|
rs747266069
|
|
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter)
|
rs2144219508
|
|
NM_014028.4(OSTM1):c.486del (p.Phe162fs)
|
rs1582396088
|
|
NM_014053.4(FLVCR1):c.1413+82TTG[6]
|
rs41300975
|
|
NM_014168.4(METTL5):c.591+2T>G
|
rs1400976065
|
|
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)
|
rs1593121484
|
|
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)
|
rs727503785
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014780.5(CUL7):c.2862+2T>G
|
rs2150321832
|
|
NM_014780.5(CUL7):c.652del (p.Arg218fs)
|
rs1581962986
|
|
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr)
|
rs200154603
|
|
NM_015114.3(ANKLE2):c.1892-127_1892-65del
|
rs1555235999
|
|
NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
|
NM_015474.4(SAMHD1):c.626-64_626-63del
|
rs529639777
|
|
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)
|
rs2121081165
|
|
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)
|
rs1450008394
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser)
|
rs2141181367
|
|
NM_016194.4(GNB5):c.375+1G>T
|
rs886041055
|
|
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)
|
rs1377102705
|
|
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter)
|
rs1597752877
|
|
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala)
|
rs1597757405
|
|
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe)
|
rs1364265842
|
|
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)
|
rs1156904586
|
|
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)
|
rs1593326999
|
|
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)
|
rs397514683
|
|
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)
|
rs1589079163
|
|
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)
|
rs368433666
|
|
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro)
|
rs1570012058
|
|
NM_018294.6(CWF19L1):c.187+1G>T
|
rs1330992740
|
|
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)
|
rs35498994
|
|
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del)
|
rs1586806238
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
|
|
|
NM_020247.5(COQ8A):c.1358del (p.Leu453fs)
|
rs1271428051
|
|
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)
|
rs751521888
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)
|
rs1584907924
|
|
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)
|
rs934266733
|
|
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs)
|
rs1584934951
|
|
NM_020661.4(AICDA):c.417G>T (p.Met139Ile)
|
rs1591744217
|
|
NM_020964.3(EPG5):c.1252+1G>T
|
rs763788808
|
|
NM_020964.3(EPG5):c.5870-2A>G
|
rs1599474108
|
|
NM_020964.3(EPG5):c.6577del (p.Val2193fs)
|
rs1599445663
|
|
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)
|
rs1055578473
|
|
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs)
|
rs2145359858
|
|
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)
|
rs759141702
|
|
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
|
|
|
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)
|
rs887346658
|
|
NM_024057.4(NUP37):c.153_156+3del
|
rs770156086
|
|
NM_024649.5(BBS1):c.1243del (p.Val415fs)
|
rs1590772920
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala)
|
rs763473990
|
|
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)
|
rs1576164991
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_025074.7(FRAS1):c.11445+68_11445+69del
|
rs3062747
|
|
NM_025077.4(TOE1):c.52+76A>G
|
rs547694371
|
|
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu)
|
rs139038990
|
|
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter)
|
rs1597012997
|
|
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)
|
rs1581135405
|
|
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)
|
rs1439933768
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)
|
rs1580845586
|
|
NM_032856.5(WDR73):c.710dup (p.Gly238fs)
|
rs1282630153
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1])
|
rs11267906
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)
|
rs2108328020
|
|
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn)
|
rs1588105861
|
|
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
|
rs1582024305
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.1693+2T>G
|
rs1581999471
|
|
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)
|
rs1203260419
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter)
|
rs202223718
|
|
NM_138694.4(PKHD1):c.8441-5A>G
|
rs922193595
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_144672.4(OTOA):c.1320+2T>C
|
rs1567381218
|
|
NM_153816.6(SNX14):c.1608+1G>T
|
rs749656742
|
|
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)
|
rs1281896947
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
NM_170707.4(LMNA):c.936+2T>C
|
rs797045011
|
|
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val)
|
rs933370216
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_178172.6(GPIHBP1):c.182-1G>T
|
rs2130672651
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.702+1G>A
|
rs2128325966
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
|
rs1571523319
|
|
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
|
rs1571524102
|
|
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)
|
rs1571525145
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs)
|
rs1571848132
|
|
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
|
rs1571848166
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr)
|
rs1571848190
|
|
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del)
|
rs1571848216
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)
|
rs1571848855
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly)
|
rs527236140
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|