NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
|
rs199766569
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)
|
rs72653744
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
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_003573.2(LTBP4):c.254del (p.Leu85fs)
|
rs747013505
|
0.00010
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_012414.4(RAB3GAP2):c.713-2A>G
|
rs797045103
|
0.00007
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)
|
rs387906917
|
0.00005
|
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)
|
rs752143061
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)
|
rs121908446
|
0.00002
|
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)
|
rs199775294
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter)
|
rs777947329
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter)
|
rs1426432774
|
0.00001
|
NM_004100.5(EYA4):c.1739-1G>A
|
rs797045088
|
0.00001
|
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)
|
rs768255532
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NC_000001.10:g.(?_216011333)_(216040512_?)del
|
|
|
NC_000010.11:g.(?_71645831)_(71646617_?)del
|
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)
|
rs9514067
|
|
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)
|
rs1198241866
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)
|
rs797044492
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000287.4(PEX6):c.2094+1G>A
|
rs1581760572
|
|
NM_000320.3(QDPR):c.472C>T (p.His158Tyr)
|
rs750201480
|
|
NM_000360.4(TH):c.283del (p.Ala95fs)
|
rs797045111
|
|
NM_000370.3(TTPA):c.19del (p.Gln7fs)
|
rs760014795
|
|
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
|
rs781059624
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)
|
rs866982675
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)
|
rs764201220
|
|
NM_001127671.2(LIFR):c.1578del (p.Lys526fs)
|
rs1554020702
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001171.6(ABCC6):c.3306+1del
|
rs797045078
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter)
|
rs1342429887
|
|
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs)
|
rs2103771766
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)
|
rs1594427410
|
|
NM_002292.4(LAMB2):c.3109+1G>T
|
rs888830612
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_003322.6(TULP1):c.855dup (p.Val286fs)
|
rs1554125752
|
|
NM_006846.4(SPINK5):c.2740-127_2740-126del
|
rs797045108
|
|
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs)
|
rs761490126
|
|
NM_014363.6(SACS):c.11100dup (p.Trp3701fs)
|
rs1883571351
|
|
NM_014363.6(SACS):c.7641dup (p.Glu2548fs)
|
rs876657720
|
|
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
|
rs876657721
|
|
NM_014425.5(INVS):c.615+1G>A
|
rs955421639
|
|
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs)
|
rs1647148516
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter)
|
rs1668654133
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter)
|
rs776034810
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)
|
rs797045454
|
|
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter)
|
rs1555673917
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_147127.5(EVC2):c.222_228+21del
|
rs1484464278
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter)
|
rs797045112
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs)
|
rs797045109
|
|
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
|
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.2(USH2A):c.4396+6857_6486-425del
|
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.1803del (p.Gly602fs)
|
rs1553327452
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs)
|
rs752032044
|
|