ClinVar Miner

List of variants studied for autosomal recessive disease by Mendelics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1236
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HGVS dbSNP gnomAD frequency
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

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