NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
|
rs61729223
|
0.01181
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys)
|
rs149842031
|
0.00537
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)
|
rs200815412
|
0.00187
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)
|
rs201972845
|
0.00173
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)
|
rs141835897
|
0.00171
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
NM_001164508.2(NEB):c.24874-8C>T
|
rs200902944
|
0.00134
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_022132.5(MCCC2):c.450G>C (p.Val150=)
|
rs151098534
|
0.00121
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
|
rs145682249
|
0.00116
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)
|
rs145386421
|
0.00115
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)
|
rs373946448
|
0.00109
|
NM_002529.4(NTRK1):c.212+10C>T
|
rs183517027
|
0.00108
|
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=)
|
rs149332790
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
NM_000199.5(SGSH):c.303C>T (p.Phe101=)
|
rs150482611
|
0.00088
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00087
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)
|
rs143185806
|
0.00077
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000383.4(AIRE):c.447G>A (p.Arg149=)
|
rs374704178
|
0.00069
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)
|
rs201886728
|
0.00066
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)
|
rs148584272
|
0.00064
|
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)
|
rs146244319
|
0.00063
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)
|
rs140941507
|
0.00061
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_004937.3(CTNS):c.534C>T (p.Ile178=)
|
rs113967200
|
0.00058
|
NM_012144.4(DNAI1):c.1923C>T (p.His641=)
|
rs145218397
|
0.00056
|
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)
|
rs150874422
|
0.00055
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668
|
0.00054
|
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)
|
rs77170608
|
0.00051
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)
|
rs373587647
|
0.00048
|
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly)
|
rs138592626
|
0.00046
|
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)
|
rs369153778
|
0.00046
|
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
|
rs559384926
|
0.00041
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)
|
rs146750552
|
0.00039
|
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)
|
rs142036266
|
0.00039
|
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)
|
rs201419564
|
0.00038
|
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)
|
rs189609282
|
0.00037
|
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)
|
rs199835341
|
0.00036
|
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)
|
rs149436747
|
0.00035
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)
|
rs150098198
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000255.4(MMUT):c.2196C>T (p.Ala732=)
|
rs201963242
|
0.00034
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00034
|
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser)
|
rs189541265
|
0.00032
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00029
|
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)
|
rs149187750
|
0.00029
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)
|
rs137899554
|
0.00028
|
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)
|
rs145775351
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)
|
rs202145313
|
0.00026
|
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)
|
rs149471462
|
0.00026
|
NM_001369.3(DNAH5):c.382G>A (p.Val128Met)
|
rs200553244
|
0.00026
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu)
|
rs370206339
|
0.00025
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)
|
rs202191938
|
0.00024
|
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)
|
rs148017278
|
0.00024
|
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)
|
rs557057587
|
0.00023
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)
|
rs766646786
|
0.00022
|
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg)
|
rs145533843
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)
|
rs150332158
|
0.00021
|
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)
|
rs189232206
|
0.00021
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)
|
rs368912483
|
0.00020
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His)
|
rs377748897
|
0.00019
|
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)
|
rs199903114
|
0.00019
|
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met)
|
rs377375638
|
0.00019
|
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu)
|
rs150095347
|
0.00019
|
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=)
|
rs140351132
|
0.00019
|
NM_000397.4(CYBB):c.855G>A (p.Leu285=)
|
rs782293433
|
0.00018
|
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His)
|
rs149596493
|
0.00018
|
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)
|
rs199957886
|
0.00018
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser)
|
rs376611641
|
0.00018
|
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val)
|
rs147911274
|
0.00018
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)
|
rs770023115
|
0.00017
|
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)
|
rs200555425
|
0.00017
|
NM_001164508.2(NEB):c.6807+10T>C
|
rs375723456
|
0.00017
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val)
|
rs375646776
|
0.00016
|
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp)
|
rs200165006
|
0.00016
|
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626
|
0.00016
|
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys)
|
rs202044707
|
0.00016
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)
|
rs199584268
|
0.00015
|
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met)
|
rs374961597
|
0.00015
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val)
|
rs369957704
|
0.00014
|
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser)
|
rs376194864
|
0.00014
|
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)
|
rs202211102
|
0.00014
|
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)
|
rs370810654
|
0.00014
|
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn)
|
rs562175196
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)
|
rs201722048
|
0.00013
|
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu)
|
rs373133009
|
0.00013
|
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)
|
rs200146632
|
0.00013
|
NM_001369.3(DNAH5):c.2891A>T (p.His964Leu)
|
rs199698421
|
0.00013
|
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)
|
rs372804439
|
0.00012
|
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)
|
rs886038447
|
0.00012
|
NM_001164508.2(NEB):c.853A>G (p.Ile285Val)
|
rs773114380
|
0.00012
|
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)
|
rs763198301
|
0.00012
|
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)
|
rs140975593
|
0.00012
|
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)
|
rs201770808
|
0.00011
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)
|
rs200585609
|
0.00011
|
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)
|
rs201529683
|
0.00011
|
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn)
|
rs201337732
|
0.00011
|
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His)
|
rs377443184
|
0.00011
|
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)
|
rs373551215
|
0.00011
|
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val)
|
rs370172690
|
0.00011
|
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)
|
rs201758329
|
0.00011
|
NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser)
|
rs111313832
|
0.00011
|
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)
|
rs749126116
|
0.00011
|
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)
|
rs368412855
|
0.00011
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)
|
rs199606152
|
0.00010
|
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys)
|
rs374390581
|
0.00010
|
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)
|
rs773239926
|
0.00010
|
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln)
|
rs556624010
|
0.00010
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
0.00010
|
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)
|
rs138319290
|
0.00009
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
NM_000282.4(PCCA):c.36C>T (p.Val12=)
|
rs375516917
|
0.00009
|
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn)
|
rs200672818
|
0.00009
|
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile)
|
rs370695020
|
0.00009
|
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)
|
rs745791097
|
0.00009
|
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
|
rs139333406
|
0.00009
|
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)
|
rs78420579
|
0.00009
|
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)
|
rs190450522
|
0.00009
|
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)
|
rs140690090
|
0.00009
|
NM_000284.4(PDHA1):c.870C>T (p.His290=)
|
rs761411007
|
0.00008
|
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr)
|
rs577939684
|
0.00008
|
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val)
|
rs541672313
|
0.00008
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu)
|
rs139821753
|
0.00008
|
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=)
|
rs182217350
|
0.00008
|
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
|
rs148291967
|
0.00007
|
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
|
rs369881673
|
0.00007
|
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met)
|
rs767584361
|
0.00007
|
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr)
|
rs536677256
|
0.00007
|
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr)
|
rs776231831
|
0.00007
|
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val)
|
rs763824667
|
0.00007
|
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)
|
rs369629509
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000352.6(ABCC8):c.2222+12A>G
|
rs534103042
|
0.00006
|
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)
|
rs376906761
|
0.00006
|
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)
|
rs749322464
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val)
|
rs750039342
|
0.00006
|
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln)
|
rs766072117
|
0.00006
|
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr)
|
rs756135837
|
0.00006
|
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)
|
rs554984749
|
0.00006
|
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr)
|
rs369275207
|
0.00006
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00006
|
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys)
|
rs756926807
|
0.00006
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
0.00006
|
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)
|
rs138838869
|
0.00006
|
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)
|
rs141828476
|
0.00006
|
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)
|
rs141651575
|
0.00006
|
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)
|
rs139857637
|
0.00006
|
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu)
|
rs138494768
|
0.00006
|
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
|
rs574853557
|
0.00005
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
NM_000489.6(ATRX):c.118A>G (p.Met40Val)
|
rs149990714
|
0.00005
|
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)
|
rs781829081
|
0.00005
|
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)
|
rs782308530
|
0.00005
|
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His)
|
rs550715282
|
0.00005
|
NM_001164508.2(NEB):c.11182-8T>A
|
rs183088493
|
0.00005
|
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr)
|
rs753428817
|
0.00005
|
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)
|
rs369783406
|
0.00005
|
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys)
|
rs771222700
|
0.00005
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)
|
rs782781078
|
0.00004
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met)
|
rs775362248
|
0.00004
|
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val)
|
rs761829162
|
0.00004
|
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly)
|
rs747282707
|
0.00004
|
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)
|
rs201291446
|
0.00004
|
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln)
|
rs368642083
|
0.00004
|
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu)
|
rs777231395
|
0.00004
|
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys)
|
rs143673459
|
0.00004
|
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala)
|
rs138222058
|
0.00004
|
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)
|
rs375561333
|
0.00004
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
NM_000018.4(ACADVL):c.1605+7G>A
|
rs572010910
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000199.5(SGSH):c.633C>A (p.Thr211=)
|
rs187147954
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)
|
rs372257088
|
0.00003
|
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)
|
rs372186045
|
0.00003
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
0.00003
|
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr)
|
rs1340328179
|
0.00003
|
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)
|
rs782757975
|
0.00003
|
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)
|
rs1064796745
|
0.00003
|
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=)
|
rs753253128
|
0.00003
|
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)
|
rs781020561
|
0.00003
|
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser)
|
rs775756899
|
0.00003
|
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu)
|
rs571935637
|
0.00003
|
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val)
|
rs201940342
|
0.00003
|
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val)
|
rs779481792
|
0.00003
|
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala)
|
rs578023308
|
0.00003
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)
|
rs565819640
|
0.00003
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu)
|
rs185104576
|
0.00003
|
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)
|
rs182015909
|
0.00003
|
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)
|
rs560354978
|
0.00003
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
NM_000098.3(CPT2):c.1404G>A (p.Gln468=)
|
rs140771069
|
0.00002
|
NM_000206.3(IL2RG):c.87G>A (p.Thr29=)
|
rs779772745
|
0.00002
|
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)
|
rs1280555560
|
0.00002
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu)
|
rs199934793
|
0.00002
|
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306
|
0.00002
|
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=)
|
rs771527086
|
0.00002
|
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)
|
rs771495234
|
0.00002
|
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly)
|
rs765940770
|
0.00002
|
NM_000051.4(ATM):c.1898+3A>G
|
rs200169643
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)
|
rs770255643
|
0.00001
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
NM_000158.4(GBE1):c.2016G>A (p.Glu672=)
|
rs571448518
|
0.00001
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)
|
rs550990673
|
0.00001
|
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln)
|
rs782374254
|
0.00001
|
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)
|
rs782554626
|
0.00001
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=)
|
rs774372075
|
0.00001
|
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=)
|
rs547109690
|
0.00001
|
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn)
|
rs752928207
|
0.00001
|
NM_001164508.2(NEB):c.1839C>T (p.Ser613=)
|
rs751976783
|
0.00001
|
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu)
|
rs763365852
|
0.00001
|
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)
|
rs534646949
|
0.00001
|
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr)
|
rs756130763
|
0.00001
|
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln)
|
rs369456343
|
0.00001
|
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)
|
rs200994058
|
0.00001
|
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val)
|
rs768364281
|
0.00001
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
NM_002529.4(NTRK1):c.1597C>T (p.Leu533=)
|
rs760564817
|
0.00001
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
NM_000018.4(ACADVL):c.753-27C>T
|
rs374911841
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000057.4(BLM):c.2407-7del
|
rs769184675
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000153.4(GALC):c.909-3del
|
rs1212915595
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)
|
rs138905930
|
|
NM_000487.6(ARSA):c.937C>A (p.Arg313=)
|
rs551472773
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg)
|
rs12193967
|
|
NM_001142800.2(EYS):c.6079-24TC[8]
|
rs35395170
|
|
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val)
|
rs535926481
|
|
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn)
|
rs201483656
|
|
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser)
|
rs751394716
|
|
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser)
|
rs768864684
|
|
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln)
|
rs200930670
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)
|
rs375037194
|
|
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)
|
rs540038644
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)
|
rs113742238
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)
|
rs553270591
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)
|
rs376646346
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|