NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His)
|
rs28941780
|
0.00139
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)
|
rs200846354
|
0.00124
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)
|
rs34878847
|
0.00096
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp)
|
rs138943074
|
0.00038
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)
|
rs146195955
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
|
rs183487020
|
0.00031
|
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)
|
rs201824781
|
0.00030
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_015047.3(EMC1):c.2712dup (p.His905fs)
|
rs781137936
|
0.00026
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser)
|
rs557331348
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)
|
rs138587317
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg)
|
rs780411290
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln)
|
rs781994662
|
0.00010
|
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)
|
rs138444697
|
0.00010
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)
|
rs139484231
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)
|
rs28936704
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter)
|
rs763001827
|
0.00007
|
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)
|
rs368587966
|
0.00007
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)
|
rs190612616
|
0.00006
|
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)
|
rs374156343
|
0.00006
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)
|
rs193922795
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
NM_007059.4(KPTN):c.394+1G>A
|
rs373139784
|
0.00006
|
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)
|
rs121912619
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile)
|
rs782716325
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)
|
rs186044004
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00004
|
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp)
|
rs774268095
|
0.00004
|
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln)
|
rs781337846
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_001145860.2(POP1):c.163C>T (p.Arg55Ter)
|
rs370453487
|
0.00004
|
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp)
|
rs727504182
|
0.00004
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys)
|
rs150153987
|
0.00004
|
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His)
|
rs398124543
|
0.00004
|
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)
|
rs387907058
|
0.00004
|
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter)
|
rs375215583
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys)
|
rs775252439
|
0.00003
|
NM_000478.6(ALPL):c.673T>C (p.Tyr225His)
|
rs759125473
|
0.00003
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)
|
rs863224072
|
0.00003
|
NM_004082.5(DCTN1):c.414+1G>A
|
rs576198476
|
0.00003
|
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)
|
rs267606678
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter)
|
rs755097467
|
0.00003
|
NM_033100.4(CDHR1):c.1A>G (p.Met1Val)
|
rs794726954
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)
|
rs114837786
|
0.00003
|
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn)
|
rs373150395
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)
|
rs767729255
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys)
|
rs978886878
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg)
|
rs756460900
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)
|
rs61751420
|
0.00001
|
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)
|
rs61749437
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)
|
rs61750646
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.887-10A>G
|
rs755445790
|
0.00001
|
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg)
|
rs765570396
|
0.00001
|
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)
|
rs121913574
|
0.00001
|
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)
|
rs121913573
|
0.00001
|
NM_000434.4(NEU1):c.615G>A (p.Gln205=)
|
rs781137251
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)
|
rs768555495
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)
|
rs199634446
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)
|
rs121908962
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)
|
rs794729175
|
0.00001
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
|
rs756220860
|
0.00001
|
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu)
|
rs28936703
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)
|
rs777367269
|
0.00001
|
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His)
|
rs794727645
|
0.00001
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)
|
rs529961953
|
0.00001
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)
|
rs782598150
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly)
|
rs398123287
|
|
NM_000277.3(PAH):c.1065+3A>G
|
rs62508689
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000291.4(PGK1):c.639C>T (p.Gly213=)
|
rs797044505
|
|
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)
|
rs104894624
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys)
|
rs886043595
|
|
NM_000346.4(SOX9):c.507C>G (p.His169Gln)
|
rs2229989
|
|
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)
|
rs777078540
|
|
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His)
|
rs1243753206
|
|
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg)
|
rs794727220
|
|
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser)
|
rs1553190579
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)
|
rs886043680
|
|
NM_000444.6(PHEX):c.1586+3_1586+6del
|
rs886042234
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg)
|
rs1559414817
|
|
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)
|
rs755218546
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)
|
rs137854535
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000531.6(OTC):c.572T>G (p.Leu191Arg)
|
rs72556297
|
|
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)
|
rs1553781360
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs)
|
rs767123748
|
|
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)
|
rs398123695
|
|
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp)
|
rs756065296
|
|
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs)
|
rs1396400378
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001184.4(ATR):c.1358_1359del (p.His453fs)
|
rs886044646
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His)
|
rs775332304
|
|
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr)
|
rs750456621
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)
|
rs727504064
|
|
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter)
|
rs1567195445
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe)
|
rs794727777
|
|
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)
|
rs797044730
|
|
NM_002427.4(MMP13):c.287_293del (p.Cys96fs)
|
rs886042854
|
|
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)
|
rs267607264
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)
|
rs727503996
|
|
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)
|
rs121918454
|
|
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)
|
rs398123724
|
|
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)
|
rs1553468235
|
|
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)
|
rs376255350
|
|
NM_004006.3(DMD):c.93+5590T>A
|
rs1557211730
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)
|
rs121913527
|
|
NM_005120.3(MED12):c.3844G>A (p.Val1282Met)
|
rs398124197
|
|
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His)
|
rs121909062
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)
|
rs794727507
|
|
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His)
|
rs794727642
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006565.4(CTCF):c.1130G>A (p.Arg377His)
|
rs968244943
|
|
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter)
|
rs745313320
|
|
NM_014231.5(VAMP1):c.65del (p.Pro22fs)
|
rs886042861
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_016247.4(IMPG2):c.3423-7_3423-4del
|
rs534452999
|
|
NM_017668.3(NDE1):c.1A>G (p.Met1Val)
|
rs794727491
|
|
NM_017882.3(CLN6):c.721A>G (p.Met241Val)
|
rs753994750
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)
|
rs886041715
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)
|
rs397517912
|
|
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)
|
rs794727813
|
|
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp)
|
rs1567759130
|
|
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp)
|
rs398124616
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
Single allele
|
|
|