NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)
|
rs4547
|
0.00598
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
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_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)
|
rs145720664
|
0.00273
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=)
|
rs151261530
|
0.00267
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
NM_024996.7(GFM1):c.960A>C (p.Pro320=)
|
rs145970222
|
0.00196
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)
|
rs200815412
|
0.00187
|
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)
|
rs149133845
|
0.00185
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)
|
rs143602832
|
0.00177
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)
|
rs145056278
|
0.00167
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)
|
rs141709685
|
0.00155
|
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)
|
rs114896482
|
0.00151
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_014140.4(SMARCAL1):c.2528+5G>C
|
rs145908212
|
0.00131
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000153.4(GALC):c.1489+3G>A
|
rs186664912
|
0.00124
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)
|
rs145274061
|
0.00118
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
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_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)
|
rs76923280
|
0.00106
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser)
|
rs553840761
|
0.00101
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)
|
rs77477448
|
0.00093
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)
|
rs142852982
|
0.00086
|
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)
|
rs201984297
|
0.00085
|
NM_003907.3(EIF2B5):c.1870-5C>A
|
rs144864475
|
0.00084
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)
|
rs114030714
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)
|
rs141571121
|
0.00077
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)
|
rs139281846
|
0.00075
|
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)
|
rs28730708
|
0.00075
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)
|
rs150348015
|
0.00074
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
NM_138694.4(PKHD1):c.5752-9G>A
|
rs184441390
|
0.00074
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)
|
rs146630228
|
0.00072
|
NM_004937.3(CTNS):c.695G>A (p.Arg232His)
|
rs142641674
|
0.00072
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_152564.5(VPS13B):c.11495+6A>G
|
rs116546060
|
0.00070
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
|
rs199807461
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
|
rs139935771
|
0.00066
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn)
|
rs141168886
|
0.00065
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)
|
rs151097256
|
0.00063
|
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
|
rs143221297
|
0.00061
|
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204
|
0.00061
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00061
|
NM_002529.4(NTRK1):c.602C>A (p.Pro201His)
|
rs146201511
|
0.00061
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)
|
rs150705788
|
0.00059
|
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)
|
rs146501326
|
0.00059
|
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)
|
rs186244044
|
0.00058
|
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn)
|
rs140279971
|
0.00058
|
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)
|
rs145400611
|
0.00058
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_000246.4(CIITA):c.712C>T (p.His238Tyr)
|
rs150307400
|
0.00054
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000070.3(CAPN3):c.2380+19C>T
|
rs141234995
|
0.00053
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
NM_000203.5(IDUA):c.493+7G>A
|
rs200509712
|
0.00052
|
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)
|
rs144893234
|
0.00052
|
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)
|
rs144983881
|
0.00052
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
NM_000046.5(ARSB):c.88C>T (p.Leu30=)
|
rs766870239
|
0.00051
|
NM_000070.3(CAPN3):c.1746-7C>G
|
rs199978708
|
0.00051
|
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=)
|
rs373606872
|
0.00051
|
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)
|
rs373258662
|
0.00051
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
0.00051
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)
|
rs184516994
|
0.00050
|
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)
|
rs147443162
|
0.00050
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)
|
rs112030234
|
0.00049
|
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)
|
rs138172448
|
0.00048
|
NM_001164508.2(NEB):c.19315-10T>C
|
rs201473873
|
0.00048
|
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)
|
rs141690214
|
0.00048
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00047
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_000098.3(CPT2):c.321A>G (p.Lys107=)
|
rs147846614
|
0.00045
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00044
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_001283009.2(RTEL1):c.1482-7C>T
|
rs189271525
|
0.00043
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
NM_032520.5(GNPTG):c.741+6G>A
|
rs371060844
|
0.00043
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr)
|
rs138819354
|
0.00042
|
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile)
|
rs376498106
|
0.00042
|
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
|
rs199875471
|
0.00041
|
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)
|
rs201466849
|
0.00041
|
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)
|
rs140709787
|
0.00041
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788
|
0.00040
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)
|
rs148981763
|
0.00039
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)
|
rs181884470
|
0.00039
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)
|
rs61731996
|
0.00038
|
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile)
|
rs78266699
|
0.00038
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
NM_001142800.2(EYS):c.2553C>T (p.Asn851=)
|
rs771641817
|
0.00037
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00037
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
|
rs140196414
|
0.00036
|
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)
|
rs147373480
|
0.00036
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
NM_014844.5(TECPR2):c.516A>G (p.Pro172=)
|
rs142385149
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)
|
rs147342579
|
0.00036
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)
|
rs144042993
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)
|
rs146529432
|
0.00034
|
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
|
rs144557024
|
0.00034
|
NM_000199.5(SGSH):c.144G>A (p.Pro48=)
|
rs145970971
|
0.00034
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000199.5(SGSH):c.89-4G>A
|
rs375536965
|
0.00032
|
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)
|
rs182452430
|
0.00032
|
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099
|
0.00032
|
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met)
|
rs375200875
|
0.00032
|
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)
|
rs146203427
|
0.00032
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00031
|
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
|
rs146934952
|
0.00031
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)
|
rs373993732
|
0.00031
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_000642.3(AGL):c.1333A>G (p.Met445Val)
|
rs140375476
|
0.00031
|
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)
|
rs147865593
|
0.00031
|
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)
|
rs149017456
|
0.00031
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
NM_000022.4(ADA):c.384G>A (p.Glu128=)
|
rs572092463
|
0.00030
|
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
|
rs142568125
|
0.00030
|
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)
|
rs149139346
|
0.00030
|
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
|
rs141276889
|
0.00030
|
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00030
|
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)
|
rs376308074
|
0.00030
|
NM_000022.4(ADA):c.975+8G>A
|
rs192148185
|
0.00029
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
NM_000199.5(SGSH):c.6C>T (p.Ser2=)
|
rs1043643087
|
0.00029
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)
|
rs185181696
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=)
|
rs1462106212
|
0.00029
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)
|
rs139166382
|
0.00029
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)
|
rs149585376
|
0.00029
|
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=)
|
rs140711767
|
0.00029
|
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile)
|
rs200734842
|
0.00029
|
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)
|
rs35434090
|
0.00029
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
NM_000049.4(ASPA):c.832G>A (p.Val278Met)
|
rs140581464
|
0.00028
|
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)
|
rs144760921
|
0.00028
|
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)
|
rs754130942
|
0.00028
|
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)
|
rs145775351
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)
|
rs75076115
|
0.00027
|
NM_001126108.2(SLC12A3):c.742-6C>T
|
rs370741134
|
0.00027
|
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)
|
rs372540293
|
0.00027
|
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)
|
rs183354017
|
0.00027
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)
|
rs201662945
|
0.00026
|
NM_000360.4(TH):c.594G>T (p.Val198=)
|
rs544661832
|
0.00026
|
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)
|
rs370122334
|
0.00026
|
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)
|
rs371126595
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
NM_001876.4(CPT1A):c.693+7C>T
|
rs370181471
|
0.00026
|
NM_002435.3(MPI):c.1050G>A (p.Thr350=)
|
rs145431554
|
0.00026
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
NM_014297.5(ETHE1):c.150G>C (p.Leu50=)
|
rs142193567
|
0.00026
|
NM_014844.5(TECPR2):c.978C>T (p.Ser326=)
|
rs142082203
|
0.00026
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
|
rs376090628
|
0.00025
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)
|
rs151287187
|
0.00025
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)
|
rs374582872
|
0.00025
|
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)
|
rs551163932
|
0.00025
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
|
rs199819125
|
0.00024
|
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)
|
rs142600166
|
0.00024
|
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
|
rs144941693
|
0.00024
|
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile)
|
rs150095448
|
0.00024
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)
|
rs200304547
|
0.00024
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)
|
rs143295106
|
0.00024
|
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)
|
rs369714206
|
0.00024
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00024
|
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)
|
rs148817026
|
0.00024
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
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_001164508.2(NEB):c.1899A>T (p.Arg633Ser)
|
rs77826191
|
0.00023
|
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)
|
rs77122016
|
0.00023
|
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)
|
rs200132482
|
0.00023
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)
|
rs140781915
|
0.00023
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
NM_000098.3(CPT2):c.912G>T (p.Gln304His)
|
rs141553491
|
0.00022
|
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)
|
rs76668544
|
0.00022
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)
|
rs143772894
|
0.00022
|
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)
|
rs148012328
|
0.00022
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_001164508.2(NEB):c.17845-5G>A
|
rs373390654
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)
|
rs139915367
|
0.00022
|
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)
|
rs547624231
|
0.00022
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
NM_000094.4(COL7A1):c.1241-4G>A
|
rs201605314
|
0.00021
|
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)
|
rs202107465
|
0.00021
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
|
rs774188028
|
0.00021
|
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)
|
rs191722579
|
0.00021
|
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)
|
rs749162833
|
0.00021
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
NM_023036.6(DNAI2):c.1723-1G>T
|
rs201909971
|
0.00021
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)
|
rs371665285
|
0.00021
|
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
|
rs150873722
|
0.00020
|
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser)
|
rs138125299
|
0.00020
|
NM_000128.4(F11):c.1028+9T>C
|
rs376630194
|
0.00020
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
|
rs747538432
|
0.00020
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00020
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=)
|
rs78258482
|
0.00020
|
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)
|
rs111306070
|
0.00020
|
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)
|
rs137935543
|
0.00020
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
NM_000048.4(ASL):c.655+8G>A
|
rs200203985
|
0.00019
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00019
|
NM_000128.4(F11):c.1767G>T (p.Leu589=)
|
rs142054643
|
0.00019
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)
|
rs149951602
|
0.00019
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)
|
rs565996783
|
0.00019
|
NM_000383.4(AIRE):c.538+7G>A
|
rs575144370
|
0.00019
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)
|
rs201850644
|
0.00019
|
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
NM_001360.3(DHCR7):c.729C>T (p.Pro243=)
|
rs145284180
|
0.00019
|
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)
|
rs141196027
|
0.00019
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
0.00019
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
NM_004937.3(CTNS):c.123C>T (p.Asn41=)
|
rs148084080
|
0.00019
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)
|
rs201877942
|
0.00018
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452
|
0.00018
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)
|
rs199645176
|
0.00018
|
NM_002529.4(NTRK1):c.504C>T (p.Gly168=)
|
rs144594313
|
0.00018
|
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)
|
rs201955039
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=)
|
rs41300672
|
0.00017
|
NM_002529.4(NTRK1):c.631G>A (p.Val211Met)
|
rs201192875
|
0.00017
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
|
rs200138839
|
0.00016
|
NM_000128.4(F11):c.1431C>T (p.Ser477=)
|
rs149568223
|
0.00016
|
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
NM_000159.4(GCDH):c.627C>T (p.Thr209=)
|
rs143172809
|
0.00016
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
NM_000352.6(ABCC8):c.3399+12C>T
|
rs372561049
|
0.00016
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
NM_000360.4(TH):c.585G>A (p.Ser195=)
|
rs376615793
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
|
rs576145664
|
0.00016
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)
|
rs559827776
|
0.00016
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
0.00016
|
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)
|
rs138823746
|
0.00016
|
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)
|
rs138077101
|
0.00016
|
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=)
|
rs995130689
|
0.00016
|
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=)
|
rs899618893
|
0.00016
|
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys)
|
rs765806782
|
0.00016
|
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)
|
rs368887173
|
0.00016
|
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)
|
rs200269437
|
0.00016
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00016
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_005609.4(PYGM):c.951C>T (p.Phe317=)
|
rs71581789
|
0.00016
|
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)
|
rs142571722
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)
|
rs147099791
|
0.00016
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000094.4(COL7A1):c.3724-6C>T
|
rs370390884
|
0.00015
|
NM_000128.4(F11):c.596-6G>A
|
rs369721182
|
0.00015
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
NM_000153.4(GALC):c.1629C>T (p.Ala543=)
|
rs201055535
|
0.00015
|
NM_000383.4(AIRE):c.600G>A (p.Pro200=)
|
rs754331960
|
0.00015
|
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)
|
rs143283146
|
0.00015
|
NM_001142800.2(EYS):c.453T>A (p.Val151=)
|
rs373183802
|
0.00015
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)
|
rs376609115
|
0.00015
|
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=)
|
rs143178785
|
0.00015
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
NM_000022.4(ADA):c.864T>G (p.Ala288=)
|
rs146614184
|
0.00014
|
NM_000027.4(AGA):c.941-5C>T
|
rs377622082
|
0.00014
|
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)
|
rs373528664
|
0.00014
|
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)
|
rs369620062
|
0.00014
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
|
rs144788938
|
0.00014
|
NM_000098.3(CPT2):c.1914A>G (p.Gln638=)
|
rs903915351
|
0.00014
|
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser)
|
rs554813467
|
0.00014
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
NM_000383.4(AIRE):c.880-7G>A
|
rs141955483
|
0.00014
|
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)
|
rs150637770
|
0.00014
|
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)
|
rs150378634
|
0.00014
|
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)
|
rs368150737
|
0.00014
|
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)
|
rs201976154
|
0.00014
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
0.00014
|
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)
|
rs145962029
|
0.00014
|
NM_001369.3(DNAH5):c.4596+5A>C
|
rs182677317
|
0.00014
|
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys)
|
rs201285946
|
0.00014
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)
|
rs552776147
|
0.00014
|
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)
|
rs147979890
|
0.00014
|
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)
|
rs750369546
|
0.00014
|
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)
|
rs192599733
|
0.00014
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
0.00014
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)
|
rs145745489
|
0.00014
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)
|
rs773902080
|
0.00014
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)
|
rs368419322
|
0.00013
|
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)
|
rs564151798
|
0.00013
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781
|
0.00013
|
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)
|
rs201062811
|
0.00013
|
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)
|
rs200101760
|
0.00013
|
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)
|
rs199667661
|
0.00013
|
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)
|
rs199910966
|
0.00013
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)
|
rs764417252
|
0.00013
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)
|
rs144260889
|
0.00012
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000246.4(CIITA):c.1908G>A (p.Thr636=)
|
rs200398959
|
0.00012
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)
|
rs375294508
|
0.00012
|
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)
|
rs199594449
|
0.00012
|
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)
|
rs184723737
|
0.00012
|
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)
|
rs201473194
|
0.00012
|
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=)
|
rs377015178
|
0.00012
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)
|
rs201939338
|
0.00012
|
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly)
|
rs201556073
|
0.00012
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)
|
rs566549564
|
0.00011
|
NM_000048.4(ASL):c.1047C>G (p.Val349=)
|
rs187877947
|
0.00011
|
NM_000049.4(ASPA):c.78C>T (p.Thr26=)
|
rs145616193
|
0.00011
|
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
|
rs199967174
|
0.00011
|
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
|
rs200741847
|
0.00011
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
rs764274816
|
0.00011
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)
|
rs199937453
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)
|
rs139835427
|
0.00011
|
NM_000383.4(AIRE):c.354C>G (p.Val118=)
|
rs528667089
|
0.00011
|
NM_000383.4(AIRE):c.825G>C (p.Gln275His)
|
rs1027582142
|
0.00011
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
|
rs199989676
|
0.00011
|
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)
|
rs112688556
|
0.00011
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)
|
rs546869744
|
0.00011
|
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr)
|
rs376277385
|
0.00011
|
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)
|
rs200195063
|
0.00011
|
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709
|
0.00011
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)
|
rs551649582
|
0.00011
|
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly)
|
rs928041091
|
0.00011
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)
|
rs200132007
|
0.00011
|
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile)
|
rs373406041
|
0.00011
|
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)
|
rs376292253
|
0.00011
|
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=)
|
rs755149967
|
0.00011
|
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)
|
rs149609746
|
0.00011
|
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)
|
rs149834171
|
0.00011
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
|
rs572717478
|
0.00011
|
NM_014844.5(TECPR2):c.3790-8G>A
|
rs772801372
|
0.00011
|
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=)
|
rs150885756
|
0.00011
|
NM_014844.5(TECPR2):c.846C>T (p.Cys282=)
|
rs201691545
|
0.00011
|
NM_018006.5(TRMU):c.910C>G (p.Leu304Val)
|
rs200777988
|
0.00011
|
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)
|
rs191462023
|
0.00011
|
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)
|
rs143566455
|
0.00011
|
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=)
|
rs370903187
|
0.00011
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)
|
rs202237834
|
0.00010
|
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
|
rs147285396
|
0.00010
|
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
|
rs747322973
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000246.4(CIITA):c.1545C>T (p.Cys515=)
|
rs200146904
|
0.00010
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)
|
rs146584228
|
0.00010
|
NM_000360.4(TH):c.126C>A (p.Ile42=)
|
rs755664117
|
0.00010
|
NM_000360.4(TH):c.1389G>A (p.Thr463=)
|
rs370029424
|
0.00010
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)
|
rs768813228
|
0.00010
|
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)
|
rs374606967
|
0.00010
|
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=)
|
rs369183371
|
0.00010
|
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)
|
rs117861109
|
0.00010
|
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)
|
rs199662534
|
0.00010
|
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=)
|
rs765208384
|
0.00010
|
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)
|
rs751494785
|
0.00010
|
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)
|
rs540542570
|
0.00010
|
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=)
|
rs755883171
|
0.00010
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)
|
rs142570731
|
0.00010
|
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys)
|
rs139728564
|
0.00010
|
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=)
|
rs375658702
|
0.00010
|
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)
|
rs201473584
|
0.00010
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=)
|
rs113808259
|
0.00010
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)
|
rs757593086
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=)
|
rs148721434
|
0.00010
|
NM_014244.5(ADAMTS2):c.2085+8C>A
|
rs199825726
|
0.00010
|
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)
|
rs369201060
|
0.00010
|
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)
|
rs148422923
|
0.00010
|
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=)
|
rs757779692
|
0.00010
|
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
|
rs138821993
|
0.00010
|
NM_138694.4(PKHD1):c.1694-10C>G
|
rs745911880
|
0.00010
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
NM_000022.4(ADA):c.714C>T (p.His238=)
|
rs577317154
|
0.00009
|
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)
|
rs138019537
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
|
rs200605351
|
0.00009
|
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
|
rs200802373
|
0.00009
|
NM_000128.4(F11):c.1059C>T (p.Asn353=)
|
rs766026346
|
0.00009
|
NM_000128.4(F11):c.486-10T>A
|
rs370991682
|
0.00009
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
|
rs774863156
|
0.00009
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)
|
rs763195503
|
0.00009
|
NM_000199.5(SGSH):c.506+9C>T
|
rs376523398
|
0.00009
|
NM_000199.5(SGSH):c.636C>T (p.Pro212=)
|
rs771680187
|
0.00009
|
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)
|
rs140216601
|
0.00009
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
NM_000274.4(OAT):c.1015-5C>T
|
rs764963374
|
0.00009
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)
|
rs144200345
|
0.00009
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)
|
rs146331898
|
0.00009
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)
|
rs147977213
|
0.00009
|
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=)
|
rs775877185
|
0.00009
|
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)
|
rs369429046
|
0.00009
|
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)
|
rs367638234
|
0.00009
|
NM_001164508.2(NEB):c.17844+7C>T
|
rs373259828
|
0.00009
|
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln)
|
rs575958060
|
0.00009
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00009
|
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)
|
rs369602540
|
0.00009
|
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)
|
rs372117694
|
0.00009
|
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
|
rs139333406
|
0.00009
|
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=)
|
rs373353657
|
0.00009
|
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys)
|
rs771598053
|
0.00009
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
NM_001283009.2(RTEL1):c.1395C>T (p.His465=)
|
rs376423914
|
0.00009
|
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)
|
rs12800
|
0.00009
|
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)
|
rs144393366
|
0.00009
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)
|
rs201242847
|
0.00009
|
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)
|
rs371157628
|
0.00009
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
|
rs1052804740
|
0.00009
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)
|
rs150459546
|
0.00009
|
NM_001876.4(CPT1A):c.2028+7C>G
|
rs768465007
|
0.00009
|
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)
|
rs540751200
|
0.00009
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
0.00009
|
NM_005609.4(PYGM):c.63C>T (p.Gly21=)
|
rs368124628
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)
|
rs371572450
|
0.00009
|
NM_012144.4(DNAI1):c.1019+7A>G
|
rs200720794
|
0.00009
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=)
|
rs201232288
|
0.00009
|
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=)
|
rs142710343
|
0.00009
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)
|
rs562503637
|
0.00009
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
NM_000048.4(ASL):c.72C>T (p.Phe24=)
|
rs760059034
|
0.00008
|
NM_000049.4(ASPA):c.237-6T>C
|
rs370219865
|
0.00008
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
|
rs200868430
|
0.00008
|
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)
|
rs143037856
|
0.00008
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
|
rs778613708
|
0.00008
|
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)
|
rs200478641
|
0.00008
|
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
|
rs768518776
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
|
rs751849414
|
0.00008
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=)
|
rs745673114
|
0.00008
|
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=)
|
rs759637718
|
0.00008
|
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)
|
rs202111641
|
0.00008
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)
|
rs200559481
|
0.00008
|
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403
|
0.00008
|
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=)
|
rs140558263
|
0.00008
|
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln)
|
rs201746137
|
0.00008
|
NM_001164508.2(NEB):c.9619-9C>T
|
rs778009768
|
0.00008
|
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=)
|
rs146666432
|
0.00008
|
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)
|
rs199735129
|
0.00008
|
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr)
|
rs147108941
|
0.00008
|
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His)
|
rs150739124
|
0.00008
|
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr)
|
rs536502106
|
0.00008
|
NM_001369.3(DNAH5):c.7888-4A>G
|
rs775268409
|
0.00008
|
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe)
|
rs201706790
|
0.00008
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala)
|
rs138533001
|
0.00008
|
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)
|
rs367673752
|
0.00008
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)
|
rs782595882
|
0.00008
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
NM_023036.6(DNAI2):c.855G>A (p.Thr285=)
|
rs144909415
|
0.00008
|
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)
|
rs141566041
|
0.00008
|
NM_000098.3(CPT2):c.846C>T (p.Pro282=)
|
rs138855128
|
0.00007
|
NM_000098.3(CPT2):c.84C>T (p.Gly28=)
|
rs772541454
|
0.00007
|
NM_000128.4(F11):c.1200G>A (p.Pro400=)
|
rs150377265
|
0.00007
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)
|
rs746125523
|
0.00007
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
|
rs367654527
|
0.00007
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
NM_000246.4(CIITA):c.1683C>T (p.Asp561=)
|
rs76686583
|
0.00007
|
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)
|
rs142848848
|
0.00007
|
NM_000383.4(AIRE):c.1095+10C>T
|
rs372932833
|
0.00007
|
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)
|
rs201945690
|
0.00007
|
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
|
rs545731416
|
0.00007
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=)
|
rs369251345
|
0.00007
|
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
|
rs377310315
|
0.00007
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001042432.2(CLN3):c.291G>A (p.Thr97=)
|
rs367945307
|
0.00007
|
NM_001142800.2(EYS):c.8233+9G>A
|
rs779154270
|
0.00007
|
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=)
|
rs528974814
|
0.00007
|
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)
|
rs199551865
|
0.00007
|
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328
|
0.00007
|
NM_001164508.2(NEB):c.19732-8C>T
|
rs137934821
|
0.00007
|
NM_001164508.2(NEB):c.368G>A (p.Arg123His)
|
rs546250852
|
0.00007
|
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys)
|
rs956309067
|
0.00007
|
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His)
|
rs373778424
|
0.00007
|
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)
|
rs148468879
|
0.00007
|
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)
|
rs781026169
|
0.00007
|
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)
|
rs146902000
|
0.00007
|
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly)
|
rs758546967
|
0.00007
|
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)
|
rs369094478
|
0.00007
|
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile)
|
rs368448770
|
0.00007
|
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly)
|
rs374248199
|
0.00007
|
NM_001369.3(DNAH5):c.477C>T (p.Gly159=)
|
rs897766386
|
0.00007
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
NM_012144.4(DNAI1):c.672A>G (p.Thr224=)
|
rs201101182
|
0.00007
|
NM_014297.5(ETHE1):c.375+7T>C
|
rs752466453
|
0.00007
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00007
|
NM_138694.4(PKHD1):c.711A>T (p.Ser237=)
|
rs138184195
|
0.00007
|
NM_138694.4(PKHD1):c.8440+10G>C
|
rs376658460
|
0.00007
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
NM_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)
|
rs534326487
|
0.00006
|
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)
|
rs144383704
|
0.00006
|
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)
|
rs188108732
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=)
|
rs749814590
|
0.00006
|
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
|
rs372585819
|
0.00006
|
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
|
rs777472432
|
0.00006
|
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
|
rs779298653
|
0.00006
|
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
|
rs372838887
|
0.00006
|
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=)
|
rs957344521
|
0.00006
|
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys)
|
rs779525393
|
0.00006
|
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln)
|
rs369369333
|
0.00006
|
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)
|
rs145237292
|
0.00006
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)
|
rs550064744
|
0.00006
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000246.4(CIITA):c.2832G>A (p.Ser944=)
|
rs766538754
|
0.00006
|
NM_000246.4(CIITA):c.2979G>A (p.Ala993=)
|
rs142031278
|
0.00006
|
NM_000246.4(CIITA):c.772+5G>T
|
rs376221650
|
0.00006
|
NM_000271.5(NPC1):c.2246-6C>T
|
rs757950161
|
0.00006
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
NM_000352.6(ABCC8):c.3329+7G>A
|
rs776313489
|
0.00006
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
|
rs201491251
|
0.00006
|
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)
|
rs142286875
|
0.00006
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
NM_000478.6(ALPL):c.1446C>T (p.His482=)
|
rs747980975
|
0.00006
|
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser)
|
rs782409603
|
0.00006
|
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)
|
rs201591901
|
0.00006
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=)
|
rs745762132
|
0.00006
|
NM_000498.3(CYP11B2):c.596-4G>A
|
rs370388708
|
0.00006
|
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)
|
rs780563386
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)
|
rs138190838
|
0.00006
|
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)
|
rs13306510
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
NM_001142800.2(EYS):c.-209C>T
|
rs1004023794
|
0.00006
|
NM_001142800.2(EYS):c.1461A>T (p.Gly487=)
|
rs376870255
|
0.00006
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=)
|
rs769476760
|
0.00006
|
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=)
|
rs377183242
|
0.00006
|
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser)
|
rs550191566
|
0.00006
|
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg)
|
rs757621444
|
0.00006
|
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met)
|
rs1233717326
|
0.00006
|
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn)
|
rs201731351
|
0.00006
|
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=)
|
rs201515651
|
0.00006
|
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)
|
rs775553284
|
0.00006
|
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356
|
0.00006
|
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His)
|
rs773584363
|
0.00006
|
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)
|
rs754959175
|
0.00006
|
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)
|
rs201548700
|
0.00006
|
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)
|
rs374941096
|
0.00006
|
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)
|
rs372699411
|
0.00006
|
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)
|
rs758996758
|
0.00006
|
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)
|
rs754365974
|
0.00006
|
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=)
|
rs200083849
|
0.00006
|
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His)
|
rs201984572
|
0.00006
|
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)
|
rs370000978
|
0.00006
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr)
|
rs370738668
|
0.00006
|
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=)
|
rs751747575
|
0.00006
|
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)
|
rs369382960
|
0.00006
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
0.00006
|
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=)
|
rs990691780
|
0.00006
|
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)
|
rs374221053
|
0.00006
|
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His)
|
rs150601733
|
0.00006
|
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)
|
rs201020293
|
0.00006
|
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)
|
rs749503841
|
0.00006
|
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala)
|
rs753696648
|
0.00006
|
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His)
|
rs73055857
|
0.00006
|
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)
|
rs767853104
|
0.00006
|
NM_001369.3(DNAH5):c.660+9G>A
|
rs762915801
|
0.00006
|
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=)
|
rs568499996
|
0.00006
|
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)
|
rs142302585
|
0.00006
|
NM_001369.3(DNAH5):c.7752+3A>G
|
rs200385399
|
0.00006
|
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)
|
rs770453841
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
NM_002435.3(MPI):c.1269G>A (p.Leu423=)
|
rs371664469
|
0.00006
|
NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser)
|
rs200935209
|
0.00006
|
NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)
|
rs751281792
|
0.00006
|
NM_002529.4(NTRK1):c.470G>A (p.Arg157His)
|
rs141021604
|
0.00006
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=)
|
rs113249236
|
0.00006
|
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val)
|
rs199774301
|
0.00006
|
NM_014297.5(ETHE1):c.9G>A (p.Glu3=)
|
rs773937760
|
0.00006
|
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=)
|
rs140913653
|
0.00006
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=)
|
rs567995024
|
0.00006
|
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=)
|
rs200484869
|
0.00006
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)
|
rs199768081
|
0.00006
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)
|
rs141473212
|
0.00006
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)
|
rs144106341
|
0.00006
|
NM_182760.4(SUMF1):c.237C>G (p.Pro79=)
|
rs11555132
|
0.00006
|
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
NM_000049.4(ASPA):c.840C>T (p.Pro280=)
|
rs148081446
|
0.00005
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)
|
rs368902724
|
0.00005
|
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
|
rs138330564
|
0.00005
|
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
|
rs146903823
|
0.00005
|
NM_000094.4(COL7A1):c.4012-9C>T
|
rs763087515
|
0.00005
|
NM_000098.3(CPT2):c.1335C>T (p.Cys445=)
|
rs143075786
|
0.00005
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
NM_000136.3(FANCC):c.1560C>T (p.His520=)
|
rs150020474
|
0.00005
|
NM_000154.2(GALK1):c.935G>A (p.Arg312His)
|
rs181526665
|
0.00005
|
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)
|
rs146363703
|
0.00005
|
NM_000169.3(GLA):c.755G>C (p.Arg252Thr)
|
rs147026639
|
0.00005
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00005
|
NM_000271.5(NPC1):c.956-10G>A
|
rs755660832
|
0.00005
|
NM_000303.3(PMM2):c.738C>G (p.Ser246=)
|
rs373888957
|
0.00005
|
NM_000383.4(AIRE):c.156G>A (p.Lys52=)
|
rs144396624
|
0.00005
|
NM_000397.4(CYBB):c.948G>T (p.Gly316=)
|
rs139761069
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)
|
rs367986587
|
0.00005
|
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)
|
rs148513102
|
0.00005
|
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)
|
rs782781621
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
NM_000527.5(LDLR):c.861C>T (p.Gly287=)
|
rs770191650
|
0.00005
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)
|
rs145340637
|
0.00005
|
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)
|
rs370145822
|
0.00005
|
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu)
|
rs573693040
|
0.00005
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
NM_001164508.2(NEB):c.1675-4C>G
|
rs369915027
|
0.00005
|
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His)
|
rs373850451
|
0.00005
|
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met)
|
rs778982089
|
0.00005
|
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=)
|
rs370742146
|
0.00005
|
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528
|
0.00005
|
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)
|
rs777069125
|
0.00005
|
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met)
|
rs757505325
|
0.00005
|
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu)
|
rs200454939
|
0.00005
|
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu)
|
rs772083580
|
0.00005
|
NM_001164508.2(NEB):c.252C>T (p.Pro84=)
|
rs201735545
|
0.00005
|
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)
|
rs185674525
|
0.00005
|
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile)
|
rs201541240
|
0.00005
|
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His)
|
rs752349680
|
0.00005
|
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=)
|
rs775336786
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)
|
rs760010021
|
0.00005
|
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)
|
rs753960777
|
0.00005
|
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu)
|
rs752010216
|
0.00005
|
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)
|
rs376453450
|
0.00005
|
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu)
|
rs375686889
|
0.00005
|
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)
|
rs745321705
|
0.00005
|
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=)
|
rs377432140
|
0.00005
|
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)
|
rs200591493
|
0.00005
|
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)
|
rs370228166
|
0.00005
|
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)
|
rs373015421
|
0.00005
|
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)
|
rs142870382
|
0.00005
|
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)
|
rs149960336
|
0.00005
|
NM_004035.7(ACOX1):c.405T>C (p.Thr135=)
|
rs142474717
|
0.00005
|
NM_004035.7(ACOX1):c.912C>T (p.Ser304=)
|
rs144826451
|
0.00005
|
NM_005609.4(PYGM):c.1239+9G>A
|
rs374937711
|
0.00005
|
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)
|
rs746159308
|
0.00005
|
NM_007259.5(VPS45):c.577-5C>T
|
rs1266646389
|
0.00005
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=)
|
rs149510554
|
0.00005
|
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)
|
rs543205273
|
0.00005
|
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)
|
rs553432772
|
0.00005
|
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)
|
rs752316567
|
0.00005
|
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)
|
rs377272298
|
0.00005
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)
|
rs148373921
|
0.00004
|
NM_000023.4(SGCA):c.90A>G (p.Pro30=)
|
rs754840688
|
0.00004
|
NM_000027.4(AGA):c.24T>C (p.Pro8=)
|
rs34413111
|
0.00004
|
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
|
rs1423589060
|
0.00004
|
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)
|
rs144879531
|
0.00004
|
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
|
rs75766476
|
0.00004
|
NM_000048.4(ASL):c.1063-8G>A
|
rs548397162
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=)
|
rs762567255
|
0.00004
|
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=)
|
rs770787421
|
0.00004
|
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)
|
rs200583904
|
0.00004
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
|
rs377732069
|
0.00004
|
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
|
rs142108058
|
0.00004
|
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
|
rs548139799
|
0.00004
|
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
|
rs558424479
|
0.00004
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
NM_000094.4(COL7A1):c.5736+9G>A
|
rs777097228
|
0.00004
|
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)
|
rs765130674
|
0.00004
|
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly)
|
rs200252755
|
0.00004
|
NM_000128.4(F11):c.56-6T>C
|
rs374122923
|
0.00004
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
0.00004
|
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)
|
rs757468756
|
0.00004
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
|
rs544906178
|
0.00004
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
NM_000199.5(SGSH):c.792C>T (p.Asn264=)
|
rs147962306
|
0.00004
|
NM_000199.5(SGSH):c.89-10C>T
|
rs766929408
|
0.00004
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)
|
rs374270413
|
0.00004
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000246.4(CIITA):c.2617T>C (p.Leu873=)
|
rs368233530
|
0.00004
|
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
|
rs782410861
|
0.00004
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
NM_000310.4(PPT1):c.234+7C>T
|
rs200777536
|
0.00004
|
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=)
|
rs765090096
|
0.00004
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
NM_000352.6(ABCC8):c.3558-7G>A
|
rs900191703
|
0.00004
|
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)
|
rs768582290
|
0.00004
|
NM_000360.4(TH):c.1317C>T (p.Asp439=)
|
rs375440221
|
0.00004
|
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)
|
rs1402673356
|
0.00004
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
NM_000478.6(ALPL):c.648C>T (p.Asp216=)
|
rs201739155
|
0.00004
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His)
|
rs369953763
|
0.00004
|
NM_000521.4(HEXB):c.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-4G>A
|
rs768347546
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
NM_000642.3(AGL):c.1899+9C>G
|
rs768285138
|
0.00004
|
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)
|
rs201584227
|
0.00004
|
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)
|
rs780617757
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=)
|
rs199619187
|
0.00004
|
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
|
rs191086777
|
0.00004
|
NM_001142800.2(EYS):c.1470C>T (p.Gly490=)
|
rs778161042
|
0.00004
|
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=)
|
rs768708852
|
0.00004
|
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr)
|
rs762993577
|
0.00004
|
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val)
|
rs756098317
|
0.00004
|
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn)
|
rs377076154
|
0.00004
|
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=)
|
rs141925015
|
0.00004
|
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=)
|
rs771969348
|
0.00004
|
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys)
|
rs368240939
|
0.00004
|
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser)
|
rs755153044
|
0.00004
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)
|
rs781250495
|
0.00004
|
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)
|
rs776334631
|
0.00004
|
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)
|
rs767873861
|
0.00004
|
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)
|
rs376157878
|
0.00004
|
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)
|
rs1396168176
|
0.00004
|
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile)
|
rs575499014
|
0.00004
|
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)
|
rs770713773
|
0.00004
|
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)
|
rs369514998
|
0.00004
|
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)
|
rs758166991
|
0.00004
|
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)
|
rs760905651
|
0.00004
|
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=)
|
rs558657964
|
0.00004
|
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)
|
rs746031384
|
0.00004
|
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile)
|
rs377336846
|
0.00004
|
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)
|
rs796797375
|
0.00004
|
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln)
|
rs369174368
|
0.00004
|
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=)
|
rs576696191
|
0.00004
|
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)
|
rs368346105
|
0.00004
|
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)
|
rs370976402
|
0.00004
|
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)
|
rs767493706
|
0.00004
|
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys)
|
rs377653217
|
0.00004
|
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met)
|
rs372694084
|
0.00004
|
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)
|
rs771779312
|
0.00004
|
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His)
|
rs748121656
|
0.00004
|
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)
|
rs748679499
|
0.00004
|
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu)
|
rs747225286
|
0.00004
|
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser)
|
rs368270996
|
0.00004
|
NM_001164508.2(NEB):c.5452-4A>G
|
rs376623225
|
0.00004
|
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg)
|
rs758655350
|
0.00004
|
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala)
|
rs764064217
|
0.00004
|
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=)
|
rs371565168
|
0.00004
|
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala)
|
rs748120166
|
0.00004
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
NM_001243279.3(ACSF3):c.666+9C>T
|
rs767663198
|
0.00004
|
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)
|
rs377354800
|
0.00004
|
NM_001243279.3(ACSF3):c.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)
|
rs545613984
|
0.00004
|
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)
|
rs200012281
|
0.00004
|
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)
|
rs758395320
|
0.00004
|
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)
|
rs746662023
|
0.00004
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00004
|
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)
|
rs748817131
|
0.00004
|
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln)
|
rs781267941
|
0.00004
|
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)
|
rs185855852
|
0.00004
|
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser)
|
rs750670743
|
0.00004
|
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=)
|
rs748438142
|
0.00004
|
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)
|
rs749078502
|
0.00004
|
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)
|
rs752077073
|
0.00004
|
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)
|
rs200805455
|
0.00004
|
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val)
|
rs529080443
|
0.00004
|
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln)
|
rs371695477
|
0.00004
|
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)
|
rs527914224
|
0.00004
|
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe)
|
rs368476008
|
0.00004
|
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe)
|
rs375063617
|
0.00004
|
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)
|
rs138505566
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)
|
rs759983484
|
0.00004
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)
|
rs552007692
|
0.00004
|
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His)
|
rs775718859
|
0.00004
|
NM_002529.4(NTRK1):c.288-5C>T
|
rs200860423
|
0.00004
|
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)
|
rs200305545
|
0.00004
|
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)
|
rs758572818
|
0.00004
|
NM_004937.3(CTNS):c.852+8C>T
|
rs780856527
|
0.00004
|
NM_005957.5(MTHFR):c.90G>A (p.Ser30=)
|
rs765167328
|
0.00004
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
0.00004
|
NM_007259.5(VPS45):c.390T>C (p.Ile130=)
|
rs782273593
|
0.00004
|
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=)
|
rs549401132
|
0.00004
|
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)
|
rs1402048390
|
0.00004
|
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)
|
rs142275705
|
0.00004
|
NM_014244.5(ADAMTS2):c.976-10C>A
|
rs973000351
|
0.00004
|
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)
|
rs536354947
|
0.00004
|
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=)
|
rs778115838
|
0.00004
|
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=)
|
rs775448295
|
0.00004
|
NM_014844.5(TECPR2):c.669A>C (p.Pro223=)
|
rs750443286
|
0.00004
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00004
|
NM_023036.6(DNAI2):c.663G>A (p.Thr221=)
|
rs368232107
|
0.00004
|
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)
|
rs368360137
|
0.00004
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)
|
rs183301169
|
0.00004
|
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)
|
rs529214120
|
0.00004
|
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)
|
rs746441159
|
0.00004
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)
|
rs773474909
|
0.00004
|
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)
|
rs760377055
|
0.00004
|
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=)
|
rs754939057
|
0.00004
|
NM_153006.3(NAGS):c.534G>A (p.Pro178=)
|
rs539061299
|
0.00004
|
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)
|
rs186127828
|
0.00004
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
NM_000023.4(SGCA):c.522C>T (p.Asn174=)
|
rs148960833
|
0.00003
|
NM_000046.5(ARSB):c.729G>A (p.Glu243=)
|
rs144029271
|
0.00003
|
NM_000048.4(ASL):c.924C>T (p.Ala308=)
|
rs747831550
|
0.00003
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
|
rs551051945
|
0.00003
|
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)
|
rs138962570
|
0.00003
|
NM_000053.4(ATP7B):c.2447+8A>G
|
rs747586752
|
0.00003
|
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=)
|
rs370527611
|
0.00003
|
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)
|
rs759384108
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
|
rs202192755
|
0.00003
|
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
|
rs765663530
|
0.00003
|
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=)
|
rs756201098
|
0.00003
|
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
|
rs562548943
|
0.00003
|
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
|
rs761393259
|
0.00003
|
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
|
rs772457877
|
0.00003
|
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
|
rs763764765
|
0.00003
|
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
|
rs748854889
|
0.00003
|
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr)
|
rs750191719
|
0.00003
|
NM_000128.4(F11):c.1683C>T (p.Ala561=)
|
rs770473069
|
0.00003
|
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
|
rs143083764
|
0.00003
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)
|
rs773613283
|
0.00003
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
|
rs780035612
|
0.00003
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
NM_000136.3(FANCC):c.1330-6G>T
|
rs1223668739
|
0.00003
|
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)
|
rs754336457
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000153.4(GALC):c.192C>T (p.Gly64=)
|
rs753287800
|
0.00003
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)
|
rs200375017
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
NM_000246.4(CIITA):c.772+9G>A
|
rs750572482
|
0.00003
|
NM_000246.4(CIITA):c.948G>A (p.Thr316=)
|
rs369971838
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
NM_000310.4(PPT1):c.282A>G (p.Thr94=)
|
rs753828114
|
0.00003
|
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)
|
rs751643248
|
0.00003
|
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)
|
rs372257088
|
0.00003
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)
|
rs372186045
|
0.00003
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
NM_000360.4(TH):c.225G>A (p.Glu75=)
|
rs558597025
|
0.00003
|
NM_000360.4(TH):c.365G>A (p.Arg122Gln)
|
rs201093528
|
0.00003
|
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
|
rs557522986
|
0.00003
|
NM_000383.4(AIRE):c.1347C>T (p.Cys449=)
|
rs367619299
|
0.00003
|
NM_000383.4(AIRE):c.1400+7G>C
|
rs781592443
|
0.00003
|
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
|
rs746873146
|
0.00003
|
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)
|
rs372219460
|
0.00003
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
NM_000487.6(ARSA):c.1107+9G>A
|
rs768146306
|
0.00003
|
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)
|
rs139997330
|
0.00003
|
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)
|
rs781835568
|
0.00003
|
NM_000498.3(CYP11B2):c.1122-4C>T
|
rs1361290853
|
0.00003
|
NM_000498.3(CYP11B2):c.955-10G>T
|
rs761292212
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)
|
rs146778702
|
0.00003
|
NM_000642.3(AGL):c.2950-5T>G
|
rs760229683
|
0.00003
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)
|
rs750729027
|
0.00003
|
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)
|
rs750023394
|
0.00003
|
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)
|
rs201991385
|
0.00003
|
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
NM_001003722.2(GLE1):c.1964+7G>A
|
rs200856711
|
0.00003
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
NM_001127671.2(LIFR):c.2670+6C>G
|
rs898718526
|
0.00003
|
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)
|
rs375043207
|
0.00003
|
NM_001142800.2(EYS):c.6726-7C>T
|
rs886782734
|
0.00003
|
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)
|
rs370845590
|
0.00003
|
NM_001164508.2(NEB):c.104C>T (p.Thr35Met)
|
rs749153659
|
0.00003
|
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr)
|
rs201614105
|
0.00003
|
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys)
|
rs753450456
|
0.00003
|
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)
|
rs1015014078
|
0.00003
|
NM_001164508.2(NEB):c.11806-7C>A
|
rs779713133
|
0.00003
|
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)
|
rs756162358
|
0.00003
|
NM_001164508.2(NEB):c.1339A>G (p.Met447Val)
|
rs774284999
|
0.00003
|
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met)
|
rs200952733
|
0.00003
|
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val)
|
rs767425744
|
0.00003
|
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg)
|
rs200501968
|
0.00003
|
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His)
|
rs751957350
|
0.00003
|
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn)
|
rs768390701
|
0.00003
|
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)
|
rs185999504
|
0.00003
|
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)
|
rs553079055
|
0.00003
|
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=)
|
rs371194689
|
0.00003
|
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys)
|
rs762552898
|
0.00003
|
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val)
|
rs370764959
|
0.00003
|
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)
|
rs755165133
|
0.00003
|
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)
|
rs200826420
|
0.00003
|
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)
|
rs200250294
|
0.00003
|
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)
|
rs539800267
|
0.00003
|
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)
|
rs767207985
|
0.00003
|
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)
|
rs766321668
|
0.00003
|
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)
|
rs750689059
|
0.00003
|
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp)
|
rs762220487
|
0.00003
|
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys)
|
rs542275170
|
0.00003
|
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)
|
rs371600800
|
0.00003
|
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)
|
rs749034995
|
0.00003
|
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)
|
rs779983347
|
0.00003
|
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)
|
rs372664114
|
0.00003
|
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys)
|
rs764769462
|
0.00003
|
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)
|
rs1219268531
|
0.00003
|
NM_001164508.2(NEB):c.448G>A (p.Val150Ile)
|
rs376288418
|
0.00003
|
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=)
|
rs371962475
|
0.00003
|
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr)
|
rs371639863
|
0.00003
|
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro)
|
rs531692437
|
0.00003
|
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)
|
rs200649387
|
0.00003
|
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys)
|
rs372667149
|
0.00003
|
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)
|
rs751935179
|
0.00003
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg)
|
rs780437384
|
0.00003
|
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp)
|
rs368148074
|
0.00003
|
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr)
|
rs368373064
|
0.00003
|
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val)
|
rs768058972
|
0.00003
|
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702
|
0.00003
|
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn)
|
rs780275367
|
0.00003
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)
|
rs536239913
|
0.00003
|
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)
|
rs200894344
|
0.00003
|
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys)
|
rs200494845
|
0.00003
|
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)
|
rs769275003
|
0.00003
|
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)
|
rs375218798
|
0.00003
|
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys)
|
rs116128702
|
0.00003
|
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp)
|
rs747326567
|
0.00003
|
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg)
|
rs187551830
|
0.00003
|
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val)
|
rs189971831
|
0.00003
|
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=)
|
rs752656841
|
0.00003
|
NM_001369.3(DNAH5):c.8821-7A>G
|
rs776228125
|
0.00003
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)
|
rs573112017
|
0.00003
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
NM_002529.4(NTRK1):c.1473C>T (p.Ile491=)
|
rs373181158
|
0.00003
|
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)
|
rs748133401
|
0.00003
|
NM_002529.4(NTRK1):c.219C>T (p.Ile73=)
|
rs563296138
|
0.00003
|
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp)
|
rs537948663
|
0.00003
|
NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser)
|
rs760918699
|
0.00003
|
NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)
|
rs145222195
|
0.00003
|
NM_002529.4(NTRK1):c.954T>C (p.Asn318=)
|
rs769539870
|
0.00003
|
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)
|
rs748677211
|
0.00003
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=)
|
rs374691393
|
0.00003
|
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=)
|
rs371484897
|
0.00003
|
NM_004937.3(CTNS):c.621C>T (p.Phe207=)
|
rs749428707
|
0.00003
|
NM_005609.4(PYGM):c.780C>T (p.Val260=)
|
rs754415422
|
0.00003
|
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)
|
rs753261868
|
0.00003
|
NM_006493.4(CLN5):c.420A>G (p.Gln140=)
|
rs753732321
|
0.00003
|
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)
|
rs201677978
|
0.00003
|
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=)
|
rs150785761
|
0.00003
|
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)
|
rs750559102
|
0.00003
|
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)
|
rs571392819
|
0.00003
|
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=)
|
rs781340148
|
0.00003
|
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)
|
rs140707035
|
0.00003
|
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=)
|
rs768390657
|
0.00003
|
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=)
|
rs766731589
|
0.00003
|
NM_014244.5(ADAMTS2):c.891+9G>A
|
rs749508251
|
0.00003
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=)
|
rs1345090533
|
0.00003
|
NM_014844.5(TECPR2):c.351T>G (p.Leu117=)
|
rs771585977
|
0.00003
|
NM_014844.5(TECPR2):c.999G>A (p.Ser333=)
|
rs369972265
|
0.00003
|
NM_018941.4(CLN8):c.582G>A (p.Gln194=)
|
rs139824802
|
0.00003
|
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=)
|
rs750233738
|
0.00003
|
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)
|
rs763701016
|
0.00003
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
|
rs761063847
|
0.00002
|
NM_000048.4(ASL):c.919-4G>A
|
rs756230523
|
0.00002
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)
|
rs757244072
|
0.00002
|
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)
|
rs564541246
|
0.00002
|
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)
|
rs367855757
|
0.00002
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
|
rs377763372
|
0.00002
|
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
|
rs773201784
|
0.00002
|
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
|
rs546776797
|
0.00002
|
NM_000094.4(COL7A1):c.4636-9T>C
|
rs760840151
|
0.00002
|
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
|
rs910778254
|
0.00002
|
NM_000094.4(COL7A1):c.5532+8T>C
|
rs1321882939
|
0.00002
|
NM_000094.4(COL7A1):c.5701-10C>T
|
rs1471404340
|
0.00002
|
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
|
rs934784670
|
0.00002
|
NM_000098.3(CPT2):c.340+10C>G
|
rs781682674
|
0.00002
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
NM_000128.4(F11):c.696T>C (p.His232=)
|
rs746382259
|
0.00002
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)
|
rs767455904
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
|
rs779131886
|
0.00002
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
NM_000153.4(GALC):c.583-4G>T
|
rs751820306
|
0.00002
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
|
rs867660906
|
0.00002
|
NM_000199.5(SGSH):c.153C>T (p.Asp51=)
|
rs372226239
|
0.00002
|
NM_000199.5(SGSH):c.537C>T (p.Asp179=)
|
rs771440037
|
0.00002
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)
|
rs767383120
|
0.00002
|
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
rs763015849
|
0.00002
|
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
rs976279218
|
0.00002
|
NM_000246.4(CIITA):c.1527C>T (p.Gly509=)
|
rs1427227633
|
0.00002
|
NM_000246.4(CIITA):c.2343G>A (p.Ser781=)
|
rs749019138
|
0.00002
|
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=)
|
rs772387879
|
0.00002
|
NM_000252.3(MTM1):c.528+7T>C
|
rs782460237
|
0.00002
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)
|
rs200384578
|
0.00002
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
NM_000317.3(PTS):c.186+9A>G
|
rs202139885
|
0.00002
|
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)
|
rs137868047
|
0.00002
|
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)
|
rs773042150
|
0.00002
|
NM_000487.6(ARSA):c.510C>T (p.Cys170=)
|
rs1483727422
|
0.00002
|
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)
|
rs781955237
|
0.00002
|
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)
|
rs1378005125
|
0.00002
|
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
|
rs781987630
|
0.00002
|
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
|
rs782470087
|
0.00002
|
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu)
|
rs1332447363
|
0.00002
|
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
|
rs1308342676
|
0.00002
|
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn)
|
rs782520515
|
0.00002
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=)
|
rs61757291
|
0.00002
|
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=)
|
rs200206561
|
0.00002
|
NM_000520.6(HEXA):c.906C>T (p.Ser302=)
|
rs765612435
|
0.00002
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
NM_000527.5(LDLR):c.1706-21_1706-19del
|
rs386134242
|
0.00002
|
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp)
|
rs201384282
|
0.00002
|
NM_000528.4(MAN2B1):c.1109+10G>A
|
rs779635675
|
0.00002
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)
|
rs398123491
|
0.00002
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
|
rs532892332
|
0.00002
|
NM_001142800.2(EYS):c.-351C>T
|
rs761045622
|
0.00002
|
NM_001142800.2(EYS):c.151T>C (p.Leu51=)
|
rs757997501
|
0.00002
|
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn)
|
rs372827767
|
0.00002
|
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val)
|
rs761174573
|
0.00002
|
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln)
|
rs748799656
|
0.00002
|
NM_001164508.2(NEB):c.11457G>A (p.Val3819=)
|
rs780152095
|
0.00002
|
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys)
|
rs759419548
|
0.00002
|
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met)
|
rs746737604
|
0.00002
|
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn)
|
rs374867405
|
0.00002
|
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr)
|
rs1267739726
|
0.00002
|
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys)
|
rs533393007
|
0.00002
|
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile)
|
rs553375465
|
0.00002
|
NM_001164508.2(NEB):c.18366+9G>A
|
rs759834773
|
0.00002
|
NM_001164508.2(NEB):c.18693+9_18693+10del
|
rs756671954
|
0.00002
|
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met)
|
rs371689870
|
0.00002
|
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)
|
rs765363585
|
0.00002
|
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)
|
rs757278862
|
0.00002
|
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg)
|
rs779842159
|
0.00002
|
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro)
|
rs560109089
|
0.00002
|
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser)
|
rs536934629
|
0.00002
|
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr)
|
rs750152377
|
0.00002
|
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val)
|
rs368315910
|
0.00002
|
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr)
|
rs1289511955
|
0.00002
|
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)
|
rs373852098
|
0.00002
|
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)
|
rs372387518
|
0.00002
|
NM_001164508.2(NEB):c.23650-5T>G
|
rs773618223
|
0.00002
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
NM_001164508.2(NEB):c.2490G>A (p.Leu830=)
|
rs1259136731
|
0.00002
|
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile)
|
rs769233880
|
0.00002
|
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys)
|
rs1377050628
|
0.00002
|
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val)
|
rs752809792
|
0.00002
|
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp)
|
rs758590520
|
0.00002
|
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu)
|
rs765273968
|
0.00002
|
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn)
|
rs779673816
|
0.00002
|
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=)
|
rs763075598
|
0.00002
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala)
|
rs756000690
|
0.00002
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621
|
0.00002
|
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val)
|
rs755853362
|
0.00002
|
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile)
|
rs760968740
|
0.00002
|
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile)
|
rs781202038
|
0.00002
|
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu)
|
rs770322824
|
0.00002
|
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val)
|
rs1280388530
|
0.00002
|
NM_001164508.2(NEB):c.734G>T (p.Gly245Val)
|
rs765569689
|
0.00002
|
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=)
|
rs753267809
|
0.00002
|
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln)
|
rs772837483
|
0.00002
|
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=)
|
rs746644593
|
0.00002
|
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr)
|
rs747466015
|
0.00002
|
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg)
|
rs763822076
|
0.00002
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn)
|
rs1215107095
|
0.00002
|
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)
|
rs749397968
|
0.00002
|
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=)
|
rs765391783
|
0.00002
|
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)
|
rs143612682
|
0.00002
|
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys)
|
rs776854779
|
0.00002
|
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)
|
rs150357258
|
0.00002
|
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys)
|
rs777295839
|
0.00002
|
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg)
|
rs781059966
|
0.00002
|
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His)
|
rs370272258
|
0.00002
|
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)
|
rs142373364
|
0.00002
|
NM_001369.3(DNAH5):c.378A>G (p.Val126=)
|
rs377275027
|
0.00002
|
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala)
|
rs147322363
|
0.00002
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr)
|
rs753163103
|
0.00002
|
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met)
|
rs745381842
|
0.00002
|
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln)
|
rs775506164
|
0.00002
|
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met)
|
rs747116308
|
0.00002
|
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met)
|
rs190749755
|
0.00002
|
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=)
|
rs767344710
|
0.00002
|
NM_001369.3(DNAH5):c.660+10A>G
|
rs750383077
|
0.00002
|
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln)
|
rs558294959
|
0.00002
|
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys)
|
rs1469012975
|
0.00002
|
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)
|
rs773643407
|
0.00002
|
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)
|
rs548585661
|
0.00002
|
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)
|
rs750809719
|
0.00002
|
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=)
|
rs765029802
|
0.00002
|
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln)
|
rs752552477
|
0.00002
|
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=)
|
rs543265562
|
0.00002
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)
|
rs745503022
|
0.00002
|
NM_001399.5(EDA):c.396+10C>T
|
rs754163471
|
0.00002
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)
|
rs751979703
|
0.00002
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)
|
rs587780095
|
0.00002
|
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)
|
rs199826686
|
0.00002
|
NM_002529.4(NTRK1):c.1805+8C>A
|
rs780424308
|
0.00002
|
NM_002529.4(NTRK1):c.2205+10G>A
|
rs368713268
|
0.00002
|
NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln)
|
rs748402400
|
0.00002
|
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)
|
rs778716973
|
0.00002
|
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)
|
rs1226557478
|
0.00002
|
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=)
|
rs1215088730
|
0.00002
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)
|
rs750933446
|
0.00002
|
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=)
|
rs1264262485
|
0.00002
|
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)
|
rs587719252
|
0.00002
|
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)
|
rs377072887
|
0.00002
|
NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=)
|
rs1037190907
|
0.00002
|
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=)
|
rs1330988861
|
0.00002
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=)
|
rs535003448
|
0.00002
|
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)
|
rs775926673
|
0.00002
|
NM_033159.4(HYAL1):c.915C>T (p.His305=)
|
rs1290078379
|
0.00002
|
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)
|
rs916979346
|
0.00002
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=)
|
rs773270584
|
0.00002
|
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=)
|
rs770308751
|
0.00002
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
|
rs190315828
|
0.00002
|
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=)
|
rs765924507
|
0.00002
|
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)
|
rs760171272
|
0.00002
|
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)
|
rs189680814
|
0.00002
|
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=)
|
rs1397608904
|
0.00002
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
NM_000022.4(ADA):c.479-9C>T
|
rs761848284
|
0.00001
|
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)
|
rs756137267
|
0.00001
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
NM_000046.5(ARSB):c.723G>A (p.Val241=)
|
rs199858121
|
0.00001
|
NM_000049.4(ASPA):c.448C>T (p.Leu150=)
|
rs1597432362
|
0.00001
|
NM_000049.4(ASPA):c.867C>T (p.Tyr289=)
|
rs375736464
|
0.00001
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
NM_000051.4(ATM):c.2839-10A>G
|
rs770032309
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
NM_000051.4(ATM):c.6452+5T>A
|
rs533830556
|
0.00001
|
NM_000051.4(ATM):c.7308-10T>G
|
rs745319720
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000051.4(ATM):c.8988-7T>G
|
rs1487809821
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=)
|
rs1371066375
|
0.00001
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00001
|
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)
|
rs755237462
|
0.00001
|
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)
|
rs896503662
|
0.00001
|
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
|
rs146232015
|
0.00001
|
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
|
rs1192564410
|
0.00001
|
NM_000053.4(ATP7B):c.3557-8C>T
|
rs765668065
|
0.00001
|
NM_000053.4(ATP7B):c.3700-7G>A
|
rs756742483
|
0.00001
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
NM_000057.4(BLM):c.1833A>G (p.Ser611=)
|
rs747181657
|
0.00001
|
NM_000057.4(BLM):c.2169A>G (p.Gln723=)
|
rs781635047
|
0.00001
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
NM_000057.4(BLM):c.2555+8G>A
|
rs1388713132
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)
|
rs151114049
|
0.00001
|
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)
|
rs1019687102
|
0.00001
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)
|
rs755010088
|
0.00001
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
|
rs768672251
|
0.00001
|
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
|
rs200762860
|
0.00001
|
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
|
rs549271654
|
0.00001
|
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
|
rs773229775
|
0.00001
|
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
|
rs540205999
|
0.00001
|
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
|
rs763751979
|
0.00001
|
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
|
rs778777140
|
0.00001
|
NM_000094.4(COL7A1):c.3831+3G>A
|
rs767241808
|
0.00001
|
NM_000094.4(COL7A1):c.4635+10G>A
|
rs749722600
|
0.00001
|
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
|
rs776433840
|
0.00001
|
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
|
rs371009419
|
0.00001
|
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
|
rs763329165
|
0.00001
|
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
|
rs377112899
|
0.00001
|
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
|
rs199843749
|
0.00001
|
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
|
rs757102252
|
0.00001
|
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
|
rs1054273238
|
0.00001
|
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
|
rs751768659
|
0.00001
|
NM_000098.3(CPT2):c.1233G>A (p.Thr411=)
|
rs112914907
|
0.00001
|
NM_000098.3(CPT2):c.1536C>T (p.Cys512=)
|
rs199573389
|
0.00001
|
NM_000098.3(CPT2):c.36G>C (p.Arg12=)
|
rs1350688021
|
0.00001
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
|
rs139276494
|
0.00001
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
|
rs199599499
|
0.00001
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
NM_000135.4(FANCA):c.2779-9C>G
|
rs764825402
|
0.00001
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
NM_000135.4(FANCA):c.3858C>T (p.His1286=)
|
rs761705192
|
0.00001
|
NM_000135.4(FANCA):c.39G>C (p.Gln13His)
|
rs1486155993
|
0.00001
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
|
rs774054025
|
0.00001
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000151.4(G6PC1):c.340+7G>A
|
rs570199529
|
0.00001
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
NM_000153.4(GALC):c.1752A>G (p.Lys584=)
|
rs201016488
|
0.00001
|
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)
|
rs77168423
|
0.00001
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
NM_000159.4(GCDH):c.1082+8C>T
|
rs199627852
|
0.00001
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)
|
rs748069998
|
0.00001
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
NM_000199.5(SGSH):c.355+9C>T
|
rs746912493
|
0.00001
|
NM_000199.5(SGSH):c.356-6G>A
|
rs764808311
|
0.00001
|
NM_000199.5(SGSH):c.75A>C (p.Ala25=)
|
rs1262969566
|
0.00001
|
NM_000199.5(SGSH):c.813G>A (p.Thr271=)
|
rs779676466
|
0.00001
|
NM_000199.5(SGSH):c.93T>C (p.Asp31=)
|
rs982161788
|
0.00001
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
NM_000206.3(IL2RG):c.311A>T (p.His104Leu)
|
rs770804846
|
0.00001
|
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp)
|
rs758080286
|
0.00001
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
NM_000243.3(MEFV):c.1455G>A (p.Glu485=)
|
rs958054431
|
0.00001
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.30G>A (p.Leu10=)
|
rs553819712
|
0.00001
|
NM_000243.3(MEFV):c.405C>T (p.Tyr135=)
|
rs766323718
|
0.00001
|
NM_000243.3(MEFV):c.411C>T (p.Gly137=)
|
rs1266277814
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
NM_000246.4(CIITA):c.1149C>T (p.Ala383=)
|
rs748867171
|
0.00001
|
NM_000246.4(CIITA):c.200-9T>C
|
rs778238111
|
0.00001
|
NM_000246.4(CIITA):c.2256G>A (p.Glu752=)
|
rs200577013
|
0.00001
|
NM_000246.4(CIITA):c.2994G>A (p.Lys998=)
|
rs1286058878
|
0.00001
|
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=)
|
rs763766993
|
0.00001
|
NM_000246.4(CIITA):c.3233+7G>A
|
rs765558693
|
0.00001
|
NM_000246.4(CIITA):c.436+9del
|
rs1567398077
|
0.00001
|
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=)
|
rs779301267
|
0.00001
|
NM_000255.4(MMUT):c.1494C>T (p.Asp498=)
|
rs752651149
|
0.00001
|
NM_000255.4(MMUT):c.1659G>A (p.Val553=)
|
rs764316430
|
0.00001
|
NM_000255.4(MMUT):c.2082G>A (p.Arg694=)
|
rs752705830
|
0.00001
|
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)
|
rs779065920
|
0.00001
|
NM_000274.4(OAT):c.606G>A (p.Pro202=)
|
rs369806549
|
0.00001
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
NM_000310.4(PPT1):c.12C>T (p.Pro4=)
|
rs140289866
|
0.00001
|
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)
|
rs1256418853
|
0.00001
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
0.00001
|
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)
|
rs376206979
|
0.00001
|
NM_000352.6(ABCC8):c.2391-5G>A
|
rs370096884
|
0.00001
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
|
rs769968875
|
0.00001
|
NM_000352.6(ABCC8):c.4119+10C>T
|
rs201955628
|
0.00001
|
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)
|
rs752222583
|
0.00001
|
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
|
rs747402972
|
0.00001
|
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
NM_000360.4(TH):c.1077G>A (p.Ser359=)
|
rs759797905
|
0.00001
|
NM_000360.4(TH):c.1233C>T (p.Ala411=)
|
rs768695630
|
0.00001
|
NM_000360.4(TH):c.1290C>T (p.Val430=)
|
rs367962981
|
0.00001
|
NM_000360.4(TH):c.195G>A (p.Gly65=)
|
rs145628270
|
0.00001
|
NM_000360.4(TH):c.474C>T (p.Pro158=)
|
rs531554933
|
0.00001
|
NM_000360.4(TH):c.477G>A (p.Ala159=)
|
rs1217513263
|
0.00001
|
NM_000360.4(TH):c.576+10G>A
|
rs775488025
|
0.00001
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
NM_000360.4(TH):c.769T>C (p.Leu257=)
|
rs138787428
|
0.00001
|
NM_000360.4(TH):c.977+9G>C
|
rs752199740
|
0.00001
|
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
|
rs752432041
|
0.00001
|
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)
|
rs372895437
|
0.00001
|
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)
|
rs979048802
|
0.00001
|
NM_000383.4(AIRE):c.534G>A (p.Gly178=)
|
rs1160671214
|
0.00001
|
NM_000383.4(AIRE):c.840C>T (p.Pro280=)
|
rs772423300
|
0.00001
|
NM_000383.4(AIRE):c.843C>T (p.Ala281=)
|
rs769454980
|
0.00001
|
NM_000383.4(AIRE):c.90C>T (p.His30=)
|
rs754316070
|
0.00001
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)
|
rs560969584
|
0.00001
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)
|
rs780119112
|
0.00001
|
NM_000466.3(PEX1):c.831G>A (p.Gln277=)
|
rs1210178752
|
0.00001
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)
|
rs782163488
|
0.00001
|
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)
|
rs782313786
|
0.00001
|
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)
|
rs1557141410
|
0.00001
|
NM_000489.6(ATRX):c.16A>G (p.Met6Val)
|
rs782080475
|
0.00001
|
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser)
|
rs782517450
|
0.00001
|
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly)
|
rs1557140492
|
0.00001
|
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
|
rs571313578
|
0.00001
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp)
|
rs1557139572
|
0.00001
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)
|
rs782283059
|
0.00001
|
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)
|
rs1064796774
|
0.00001
|
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)
|
rs1569538747
|
0.00001
|
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)
|
rs782696086
|
0.00001
|
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr)
|
rs374291079
|
0.00001
|
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe)
|
rs782619383
|
0.00001
|
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
|
rs781912326
|
0.00001
|
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)
|
rs1557119999
|
0.00001
|
NM_000489.6(ATRX):c.5559C>T (p.His1853=)
|
rs1557096973
|
0.00001
|
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)
|
rs782773652
|
0.00001
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)
|
rs782169215
|
0.00001
|
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)
|
rs1057522580
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
NM_000492.4(CFTR):c.1587C>T (p.Asp529=)
|
rs772895745
|
0.00001
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)
|
rs983279303
|
0.00001
|
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile)
|
rs544454389
|
0.00001
|
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=)
|
rs768928152
|
0.00001
|
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=)
|
rs752745892
|
0.00001
|
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=)
|
rs745626507
|
0.00001
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)
|
rs370835628
|
0.00001
|
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile)
|
rs767546791
|
0.00001
|
NM_000527.5(LDLR):c.2529C>T (p.Asp843=)
|
rs374635484
|
0.00001
|
NM_000527.5(LDLR):c.981C>T (p.His327=)
|
rs1060499933
|
0.00001
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
|
rs545541738
|
0.00001
|
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
|
rs1318861970
|
0.00001
|
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)
|
rs1407475487
|
0.00001
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00001
|
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
|
rs778806512
|
0.00001
|
NM_000642.3(AGL):c.2002-5T>A
|
rs201718705
|
0.00001
|
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
|
rs1261746082
|
0.00001
|
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
|
rs760738241
|
0.00001
|
NM_000642.3(AGL):c.3894G>A (p.Leu1298=)
|
rs769025250
|
0.00001
|
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)
|
rs376486225
|
0.00001
|
NM_000642.3(AGL):c.684C>T (p.Ile228=)
|
rs961563586
|
0.00001
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)
|
rs535236969
|
0.00001
|
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)
|
rs567956595
|
0.00001
|
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=)
|
rs1325335839
|
0.00001
|
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=)
|
rs779784002
|
0.00001
|
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)
|
rs1042931370
|
0.00001
|
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=)
|
rs890076073
|
0.00001
|
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=)
|
rs201364943
|
0.00001
|
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=)
|
rs1342639553
|
0.00001
|
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=)
|
rs745351348
|
0.00001
|
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=)
|
rs763174826
|
0.00001
|
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)
|
rs370153031
|
0.00001
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=)
|
rs777930884
|
0.00001
|
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu)
|
rs377027708
|
0.00001
|
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala)
|
rs1316575607
|
0.00001
|
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)
|
rs772235127
|
0.00001
|
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe)
|
rs757175445
|
0.00001
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
0.00001
|
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val)
|
rs1465332264
|
0.00001
|
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met)
|
rs780157705
|
0.00001
|
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=)
|
rs752937326
|
0.00001
|
NM_001164508.2(NEB):c.12640-10C>T
|
rs1264692800
|
0.00001
|
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val)
|
rs772070576
|
0.00001
|
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe)
|
rs749473348
|
0.00001
|
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala)
|
rs1324280943
|
0.00001
|
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)
|
rs773983252
|
0.00001
|
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met)
|
rs747699601
|
0.00001
|
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp)
|
rs769673154
|
0.00001
|
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln)
|
rs558345996
|
0.00001
|
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu)
|
rs1167894918
|
0.00001
|
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser)
|
rs1221212842
|
0.00001
|
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=)
|
rs1319860549
|
0.00001
|
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=)
|
rs1300207920
|
0.00001
|
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met)
|
rs781706876
|
0.00001
|
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn)
|
rs766403303
|
0.00001
|
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=)
|
rs773178453
|
0.00001
|
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn)
|
rs752626000
|
0.00001
|
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser)
|
rs759215923
|
0.00001
|
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)
|
rs747034126
|
0.00001
|
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)
|
rs534519331
|
0.00001
|
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)
|
rs1487589344
|
0.00001
|
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val)
|
rs753409626
|
0.00001
|
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)
|
rs1014627144
|
0.00001
|
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr)
|
rs763737123
|
0.00001
|
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met)
|
rs767461697
|
0.00001
|
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His)
|
rs767230683
|
0.00001
|
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile)
|
rs779881258
|
0.00001
|
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=)
|
rs778067687
|
0.00001
|
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)
|
rs767655200
|
0.00001
|
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile)
|
rs749168085
|
0.00001
|
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro)
|
rs777945797
|
0.00001
|
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp)
|
rs778063345
|
0.00001
|
NM_001164508.2(NEB):c.21841-6T>A
|
rs767466501
|
0.00001
|
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)
|
rs756646859
|
0.00001
|
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu)
|
rs780299519
|
0.00001
|
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val)
|
rs550296441
|
0.00001
|
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys)
|
rs768826001
|
0.00001
|
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)
|
rs376495046
|
0.00001
|
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr)
|
rs746454129
|
0.00001
|
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn)
|
rs758761216
|
0.00001
|
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu)
|
rs768880396
|
0.00001
|
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)
|
rs767969927
|
0.00001
|
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)
|
rs1202510810
|
0.00001
|
NM_001164508.2(NEB):c.24021+8G>A
|
rs1361035933
|
0.00001
|
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His)
|
rs775139388
|
0.00001
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
NM_001164508.2(NEB):c.24873+7C>T
|
rs372378614
|
0.00001
|
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=)
|
rs766453942
|
0.00001
|
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)
|
rs763433145
|
0.00001
|
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)
|
rs949111967
|
0.00001
|
NM_001164508.2(NEB):c.2755C>G (p.His919Asp)
|
rs373168257
|
0.00001
|
NM_001164508.2(NEB):c.2892T>C (p.Phe964=)
|
rs762595663
|
0.00001
|
NM_001164508.2(NEB):c.2954G>A (p.Arg985His)
|
rs769987120
|
0.00001
|
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala)
|
rs1043417027
|
0.00001
|
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser)
|
rs763910385
|
0.00001
|
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=)
|
rs1448712345
|
0.00001
|
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp)
|
rs574309369
|
0.00001
|
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met)
|
rs1404806019
|
0.00001
|
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met)
|
rs757659868
|
0.00001
|
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val)
|
rs371816204
|
0.00001
|
NM_001164508.2(NEB):c.3568-10A>G
|
rs774345653
|
0.00001
|
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu)
|
rs537769519
|
0.00001
|
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met)
|
rs767433330
|
0.00001
|
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln)
|
rs747423578
|
0.00001
|
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)
|
rs762809955
|
0.00001
|
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)
|
rs755877926
|
0.00001
|
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)
|
rs772492791
|
0.00001
|
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp)
|
rs1349969572
|
0.00001
|
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys)
|
rs1306269352
|
0.00001
|
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu)
|
rs541641039
|
0.00001
|
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp)
|
rs755791156
|
0.00001
|
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=)
|
rs201539560
|
0.00001
|
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp)
|
rs763717355
|
0.00001
|
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)
|
rs757546480
|
0.00001
|
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)
|
rs199862790
|
0.00001
|
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys)
|
rs753064438
|
0.00001
|
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)
|
rs747729019
|
0.00001
|
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)
|
rs756398214
|
0.00001
|
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser)
|
rs774148469
|
0.00001
|
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu)
|
rs752328965
|
0.00001
|
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys)
|
rs762107662
|
0.00001
|
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr)
|
rs777601721
|
0.00001
|
NM_001164508.2(NEB):c.718-6C>T
|
rs371791129
|
0.00001
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=)
|
rs1318587515
|
0.00001
|
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr)
|
rs571451076
|
0.00001
|
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr)
|
rs375216853
|
0.00001
|
NM_001164508.2(NEB):c.761C>T (p.Thr254Met)
|
rs376835458
|
0.00001
|
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln)
|
rs758589097
|
0.00001
|
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His)
|
rs548343514
|
0.00001
|
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser)
|
rs200672688
|
0.00001
|
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=)
|
rs774786443
|
0.00001
|
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=)
|
rs1021985219
|
0.00001
|
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=)
|
rs373833313
|
0.00001
|
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met)
|
rs564504601
|
0.00001
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
NM_001360.3(DHCR7):c.225C>T (p.Ile75=)
|
rs755182484
|
0.00001
|
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
|
rs776713087
|
0.00001
|
NM_001360.3(DHCR7):c.756C>T (p.Asn252=)
|
rs774666247
|
0.00001
|
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)
|
rs376067762
|
0.00001
|
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)
|
rs559545340
|
0.00001
|
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)
|
rs200798994
|
0.00001
|
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln)
|
rs775060022
|
0.00001
|
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp)
|
rs749640233
|
0.00001
|
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp)
|
rs768164911
|
0.00001
|
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)
|
rs752895938
|
0.00001
|
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)
|
rs774115728
|
0.00001
|
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)
|
rs765649176
|
0.00001
|
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)
|
rs148805204
|
0.00001
|
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)
|
rs141072655
|
0.00001
|
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg)
|
rs564653952
|
0.00001
|
NM_001369.3(DNAH5):c.2259+8A>G
|
rs202137813
|
0.00001
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
0.00001
|
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)
|
rs770975422
|
0.00001
|
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys)
|
rs775816222
|
0.00001
|
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile)
|
rs1364628669
|
0.00001
|
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)
|
rs761168416
|
0.00001
|
NM_001369.3(DNAH5):c.4054-4T>C
|
rs200608915
|
0.00001
|
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)
|
rs779020258
|
0.00001
|
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=)
|
rs142806046
|
0.00001
|
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val)
|
rs1311080684
|
0.00001
|
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)
|
rs752339132
|
0.00001
|
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)
|
rs368576880
|
0.00001
|
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)
|
rs1259929811
|
0.00001
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)
|
rs756444637
|
0.00001
|
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu)
|
rs757970855
|
0.00001
|
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=)
|
rs562255121
|
0.00001
|
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=)
|
rs1032671138
|
0.00001
|
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu)
|
rs1318152994
|
0.00001
|
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)
|
rs756216163
|
0.00001
|
NM_001369.3(DNAH5):c.9213C>T (p.His3071=)
|
rs563907105
|
0.00001
|
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp)
|
rs753913853
|
0.00001
|
NM_001369.3(DNAH5):c.9897+9A>G
|
rs774932799
|
0.00001
|
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=)
|
rs756623131
|
0.00001
|
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=)
|
rs373024720
|
0.00001
|
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
|
rs747747269
|
0.00001
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=)
|
rs532389598
|
0.00001
|
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)
|
rs762003836
|
0.00001
|
NM_001378454.1(ALMS1):c.646+8C>G
|
rs760012033
|
0.00001
|
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=)
|
rs781592497
|
0.00001
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=)
|
rs752453102
|
0.00001
|
NM_001399.5(EDA):c.249C>G (p.Thr83=)
|
rs769141538
|
0.00001
|
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)
|
rs1332086842
|
0.00001
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)
|
rs760474415
|
0.00001
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
NM_002435.3(MPI):c.855G>A (p.Glu285=)
|
rs769504650
|
0.00001
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
NM_002485.5(NBN):c.1056A>G (p.Leu352=)
|
rs369092711
|
0.00001
|
NM_002485.5(NBN):c.1397+3C>G
|
rs876660481
|
0.00001
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
NM_002485.5(NBN):c.897G>A (p.Arg299=)
|
rs779798363
|
0.00001
|
NM_002529.4(NTRK1):c.12C>T (p.Gly4=)
|
rs757229319
|
0.00001
|
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=)
|
rs200937156
|
0.00001
|
NM_002529.4(NTRK1):c.1647G>A (p.Ala549=)
|
rs771010259
|
0.00001
|
NM_002529.4(NTRK1):c.1650C>T (p.Ser550=)
|
rs774664479
|
0.00001
|
NM_002529.4(NTRK1):c.1734C>G (p.Val578=)
|
rs953974597
|
0.00001
|
NM_002529.4(NTRK1):c.2047-6T>C
|
rs762866535
|
0.00001
|
NM_002529.4(NTRK1):c.2124C>T (p.Ser708=)
|
rs1371693296
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)
|
rs371346432
|
0.00001
|
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)
|
rs1566438384
|
0.00001
|
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)
|
rs768649205
|
0.00001
|
NM_003982.4(SLC7A7):c.998+9G>C
|
rs1350841635
|
0.00001
|
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)
|
rs1326680081
|
0.00001
|
NM_004006.3(DMD):c.5439T>C (p.Asn1813=)
|
rs1238738620
|
0.00001
|
NM_004035.7(ACOX1):c.659-4G>A
|
rs746563980
|
0.00001
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
NM_004937.3(CTNS):c.270A>T (p.Thr90=)
|
rs754247532
|
0.00001
|
NM_004937.3(CTNS):c.897T>C (p.Ile299=)
|
rs199824920
|
0.00001
|
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)
|
rs147727428
|
0.00001
|
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)
|
rs377257830
|
0.00001
|
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
|
rs898573925
|
0.00001
|
NM_006118.4(HAX1):c.36C>G (p.Gly12=)
|
rs201477841
|
0.00001
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)
|
rs587623477
|
0.00001
|
NM_007259.5(VPS45):c.201G>A (p.Lys67=)
|
rs782546296
|
0.00001
|
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)
|
rs764446899
|
0.00001
|
NM_012144.4(DNAI1):c.1665C>T (p.Val555=)
|
rs147469181
|
0.00001
|
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)
|
rs1022057422
|
0.00001
|
NM_012144.4(DNAI1):c.902-8T>C
|
rs755259202
|
0.00001
|
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)
|
rs370227291
|
0.00001
|
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=)
|
rs753714268
|
0.00001
|
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=)
|
rs200566186
|
0.00001
|
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=)
|
rs1288231534
|
0.00001
|
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=)
|
rs746088783
|
0.00001
|
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=)
|
rs751565994
|
0.00001
|
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)
|
rs767485549
|
0.00001
|
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)
|
rs533076307
|
0.00001
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=)
|
rs545614481
|
0.00001
|
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=)
|
rs765318084
|
0.00001
|
NM_014844.5(TECPR2):c.879A>G (p.Ser293=)
|
rs770891190
|
0.00001
|
NM_015166.4(MLC1):c.882G>A (p.Pro294=)
|
rs200163312
|
0.00001
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=)
|
rs774271399
|
0.00001
|
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=)
|
rs757935075
|
0.00001
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
NM_024301.5(FKRP):c.582G>A (p.Leu194=)
|
rs771223960
|
0.00001
|
NM_025215.6(PUS1):c.894C>T (p.Val298=)
|
rs201908893
|
0.00001
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
|
rs782279681
|
0.00001
|
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)
|
rs752608628
|
0.00001
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
NM_138694.4(PKHD1):c.2141-4C>G
|
rs1042054004
|
0.00001
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)
|
rs758231968
|
0.00001
|
NM_138694.4(PKHD1):c.414C>T (p.Ile138=)
|
rs368595925
|
0.00001
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
NM_138694.4(PKHD1):c.5601-8C>T
|
rs578030952
|
0.00001
|
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)
|
rs368263958
|
0.00001
|
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
|
rs200807210
|
0.00001
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=)
|
rs547516730
|
0.00001
|
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=)
|
rs199748413
|
0.00001
|
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=)
|
rs185477101
|
0.00001
|
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=)
|
rs766658666
|
0.00001
|
NM_152564.5(VPS13B):c.11215+8G>T
|
rs1285906381
|
0.00001
|
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)
|
rs1847925535
|
0.00001
|
NM_152564.5(VPS13B):c.114C>T (p.Ser38=)
|
rs768496696
|
0.00001
|
NM_152564.5(VPS13B):c.207A>T (p.Val69=)
|
rs772922484
|
0.00001
|
NM_152564.5(VPS13B):c.5221-5T>C
|
rs761788793
|
0.00001
|
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)
|
rs765209957
|
0.00001
|
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=)
|
rs758430817
|
0.00001
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
NM_182760.4(SUMF1):c.602+10G>T
|
rs376667963
|
0.00001
|
NM_182760.4(SUMF1):c.627G>C (p.Val209=)
|
rs748118171
|
0.00001
|
NM_182760.4(SUMF1):c.715C>T (p.Leu239=)
|
rs779864102
|
0.00001
|
NM_205861.3(DHDDS):c.324-4T>G
|
rs747118618
|
0.00001
|
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)
|
rs774001400
|
0.00001
|
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)
|
rs981419090
|
0.00001
|
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)
|
rs1381026387
|
0.00001
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
NM_000022.4(ADA):c.708G>A (p.Leu236=)
|
rs757155433
|
|
NM_000022.4(ADA):c.825C>T (p.Asp275=)
|
rs778167423
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
|
|
NM_000023.4(SGCA):c.675C>T (p.Gly225=)
|
rs773985328
|
|
NM_000027.4(AGA):c.128-7dup
|
rs1736960600
|
|
NM_000027.4(AGA):c.585T>C (p.His195=)
|
rs1736860088
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
|
rs1752122294
|
|
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
|
rs1318270777
|
|
NM_000048.4(ASL):c.402C>A (p.Gly134=)
|
rs1308519514
|
|
NM_000049.4(ASPA):c.723T>C (p.Ala241=)
|
rs2073877008
|
|
NM_000051.4(ATM):c.1899-7C>A
|
rs1060501584
|
|
NM_000051.4(ATM):c.2112T>C (p.Asn704=)
|
rs2080317012
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
NM_000051.4(ATM):c.2467-8C>G
|
rs1425701157
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)
|
rs786202470
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)
|
rs1555106560
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)
|
rs778482902
|
|
NM_000051.4(ATM):c.8419-7_8419-4del
|
rs730881306
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
NM_000051.4(ATM):c.8787-6C>T
|
rs1591313765
|
|
NM_000051.4(ATM):c.8987+5G>C
|
rs876660570
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
|
rs1951990469
|
|
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=)
|
rs1482077950
|
|
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=)
|
rs529527733
|
|
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)
|
rs574041847
|
|
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=)
|
rs779988850
|
|
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
|
rs757991922
|
|
NM_000053.4(ATP7B):c.2356-9A>G
|
rs1339073174
|
|
NM_000053.4(ATP7B):c.2447+8_2447+9insAA
|
rs746283578
|
|
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
|
rs1952028232
|
|
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)
|
rs377267217
|
|
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)
|
rs1395442643
|
|
NM_000053.4(ATP7B):c.690T>C (p.Thr230=)
|
rs1033565003
|
|
NM_000057.4(BLM):c.2205A>G (p.Thr735=)
|
rs757134420
|
|
NM_000057.4(BLM):c.2824-7A>G
|
rs374616797
|
|
NM_000057.4(BLM):c.3039T>C (p.His1013=)
|
rs747406569
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
NM_000057.4(BLM):c.3751+10C>G
|
rs199685140
|
|
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)
|
rs1596273405
|
|
NM_000057.4(BLM):c.99-9_99-7del
|
rs1229333064
|
|
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
|
rs374833797
|
|
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)
|
rs151090625
|
|
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)
|
rs1009544440
|
|
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)
|
rs746786954
|
|
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)
|
rs551850600
|
|
NM_000070.3(CAPN3):c.632+8A>G
|
rs2053447422
|
|
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)
|
rs1555420768
|
|
NM_000070.3(CAPN3):c.946-9_946-5del
|
rs758101156
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
NM_000071.3(CBS):c.829-8C>G
|
rs750081937
|
|
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
|
rs200882719
|
|
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
|
rs1388911281
|
|
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
|
rs538387822
|
|
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
|
rs748086542
|
|
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
|
rs142681592
|
|
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
|
rs745864625
|
|
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
|
rs570498790
|
|
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
|
rs767643638
|
|
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
|
rs143245957
|
|
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
|
rs141825319
|
|
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
|
rs769297158
|
|
NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=)
|
rs1575449774
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
|
rs2044195363
|
|
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
|
rs779587550
|
|
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
|
rs199936185
|
|
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
|
rs749004650
|
|
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
|
rs140041143
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
NM_000098.3(CPT2):c.1041C>T (p.Gly347=)
|
rs985374504
|
|
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)
|
rs141505320
|
|
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)
|
rs1844174531
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
NM_000128.4(F11):c.1028+9T>G
|
rs376630194
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)
|
rs780667753
|
|
NM_000135.4(FANCA):c.2014+10G>T
|
rs1567620967
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
NM_000135.4(FANCA):c.375C>T (p.Cys125=)
|
rs199793463
|
|
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)
|
rs139160837
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)
|
rs776297241
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
|
rs762079136
|
|
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
|
rs759630319
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)
|
rs780776360
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)
|
rs372793797
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.516C>T (p.Ala172=)
|
rs1248283732
|
|
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
|
rs372285275
|
|
NM_000153.4(GALC):c.678T>C (p.Ser226=)
|
rs1595226323
|
|
NM_000154.2(GALK1):c.117C>T (p.Asn39=)
|
rs1599336904
|
|
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
|
rs201247556
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)
|
rs141819282
|
|
NM_000159.4(GCDH):c.957-6A>C
|
rs748270195
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
NM_000232.5(SGCB):c.90G>A (p.Arg30=)
|
rs11541942
|
|
NM_000235.4(LIPA):c.539-5C>A
|
rs2297472
|
|
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
rs1958986915
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
NM_000246.4(CIITA):c.1044G>T (p.Thr348=)
|
rs140683241
|
|
NM_000246.4(CIITA):c.2142A>G (p.Gln714=)
|
rs188988714
|
|
NM_000246.4(CIITA):c.2259C>T (p.Gly753=)
|
rs754313400
|
|
NM_000246.4(CIITA):c.2331G>A (p.Ser777=)
|
rs34685848
|
|
NM_000246.4(CIITA):c.2658-10C>T
|
rs1337213724
|
|
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=)
|
rs149640268
|
|
NM_000246.4(CIITA):c.649T>C (p.Leu217=)
|
rs773897183
|
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)
|
rs2058754303
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
NM_000274.4(OAT):c.521-6T>G
|
rs369018496
|
|
NM_000274.4(OAT):c.966A>T (p.Thr322=)
|
rs1951417723
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
NM_000303.3(PMM2):c.129G>A (p.Val43=)
|
rs777608895
|
|
NM_000352.6(ABCC8):c.1672-20A>T
|
rs931436550
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)
|
rs1955020359
|
|
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
|
rs565968675
|
|
NM_000352.6(ABCC8):c.3650+4C>G
|
rs374315114
|
|
NM_000352.6(ABCC8):c.3651-4C>G
|
rs1954058406
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=)
|
rs1334003978
|
|
NM_000360.4(TH):c.120C>T (p.Ser40=)
|
rs766048900
|
|
NM_000360.4(TH):c.1215G>A (p.Glu405=)
|
rs1590165298
|
|
NM_000360.4(TH):c.1227T>C (p.Ile409=)
|
rs546226132
|
|
NM_000360.4(TH):c.12C>A (p.Pro4=)
|
rs147131010
|
|
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)
|
rs564949885
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
NM_000360.4(TH):c.951G>A (p.Ala317=)
|
rs1590167106
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)
|
rs72650679
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
NM_000466.3(PEX1):c.129+8G>A
|
rs1793393956
|
|
NM_000466.3(PEX1):c.2784-7T>C
|
rs777893142
|
|
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr)
|
rs566068815
|
|
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
|
rs1030151030
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
NM_000478.6(ALPL):c.1419C>T (p.Gly473=)
|
rs373417343
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
|
rs148917929
|
|
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)
|
rs6151428
|
|
NM_000489.6(ATRX):c.1509A>G (p.Gln503=)
|
rs1039587651
|
|
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
|
rs2071364653
|
|
NM_000489.6(ATRX):c.2592G>T (p.Gly864=)
|
rs782526944
|
|
NM_000489.6(ATRX):c.39A>G (p.Thr13=)
|
rs1244422748
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)
|
rs780878883
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.1987+6G>C
|
rs752382813
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
NM_000527.5(LDLR):c.396G>A (p.Arg132=)
|
rs2077269758
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)
|
rs879254604
|
|
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)
|
rs1184081650
|
|
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
|
rs1175506369
|
|
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
|
rs781127120
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)
|
rs542885983
|
|
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)
|
rs748142986
|
|
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)
|
rs2039381646
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)
|
rs374604155
|
|
NM_001126108.2(SLC12A3):c.741+8C>G
|
rs200257610
|
|
NM_001142800.2(EYS):c.-350G>A
|
rs886061687
|
|
NM_001142800.2(EYS):c.1698T>C (p.Asn566=)
|
rs1156347961
|
|
NM_001142800.2(EYS):c.33G>C (p.Leu11=)
|
rs777361054
|
|
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)
|
rs542339299
|
|
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=)
|
rs1770908773
|
|
NM_001142800.2(EYS):c.7579-11dup
|
rs1044534941
|
|
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=)
|
rs1768354975
|
|
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)
|
rs567419206
|
|
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)
|
rs1388277495
|
|
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys)
|
rs765175171
|
|
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)
|
rs2099709094
|
|
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr)
|
rs201483656
|
|
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=)
|
rs1277282343
|
|
NM_001164508.2(NEB):c.12535-10C>T
|
rs2097760296
|
|
NM_001164508.2(NEB):c.12615C>T (p.His4205=)
|
rs1579048021
|
|
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=)
|
rs772682280
|
|
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=)
|
rs1578940609
|
|
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=)
|
rs1384738774
|
|
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=)
|
rs1468240932
|
|
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=)
|
rs1553867144
|
|
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=)
|
rs1578890458
|
|
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=)
|
rs1578872999
|
|
NM_001164508.2(NEB):c.13477-7C>T
|
rs1328191142
|
|
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=)
|
rs1578800572
|
|
NM_001164508.2(NEB):c.1434A>G (p.Glu478=)
|
rs2149351968
|
|
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His)
|
rs371681892
|
|
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met)
|
rs772168965
|
|
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=)
|
rs767518298
|
|
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=)
|
rs757188494
|
|
NM_001164508.2(NEB):c.1900T>C (p.Leu634=)
|
rs1576526817
|
|
NM_001164508.2(NEB):c.19428+8C>A
|
rs773614835
|
|
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp)
|
rs771483221
|
|
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala)
|
rs750276279
|
|
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser)
|
rs750276279
|
|
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=)
|
rs750374820
|
|
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)
|
rs1279646895
|
|
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299
|
|
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly)
|
rs376072545
|
|
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)
|
rs750642580
|
|
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)
|
rs764524918
|
|
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys)
|
rs762019205
|
|
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg)
|
rs776379234
|
|
NM_001164508.2(NEB):c.24486+10G>A
|
rs755064162
|
|
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp)
|
rs200804762
|
|
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)
|
rs376984481
|
|
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val)
|
rs765478068
|
|
NM_001164508.2(NEB):c.2904A>G (p.Glu968=)
|
rs2099429615
|
|
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr)
|
rs753691207
|
|
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly)
|
rs371710158
|
|
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu)
|
rs200637566
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
NM_001164508.2(NEB):c.4507-3del
|
rs767772701
|
|
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val)
|
rs751602407
|
|
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del)
|
rs770192528
|
|
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser)
|
rs776231831
|
|
NM_001164508.2(NEB):c.508-6G>A
|
rs374227241
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln)
|
rs531692437
|
|
NM_001164508.2(NEB):c.585C>T (p.Ala195=)
|
rs374538366
|
|
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln)
|
rs752836728
|
|
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val)
|
rs373439650
|
|
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=)
|
rs916950454
|
|
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys)
|
rs756956766
|
|
NM_001164508.2(NEB):c.8469G>A (p.Val2823=)
|
rs1574818802
|
|
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser)
|
rs753718572
|
|
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg)
|
rs539367087
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)
|
rs115464632
|
|
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=)
|
rs146100165
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
NM_001365088.1(SLC12A6):c.1650-7T>C
|
rs752125669
|
|
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)
|
rs369902800
|
|
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly)
|
rs747041428
|
|
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val)
|
rs1044439678
|
|
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)
|
rs761043906
|
|
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)
|
rs145685491
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)
|
rs138162689
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)
|
rs138045391
|
|
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=)
|
rs773285536
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)
|
rs534702284
|
|
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
|
rs766072810
|
|
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val)
|
rs766505155
|
|
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)
|
rs535557021
|
|
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile)
|
rs1024785789
|
|
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=)
|
rs148891849
|
|
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)
|
rs143679999
|
|
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)
|
rs750936569
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)
|
rs200839716
|
|
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)
|
rs113742238
|
|
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)
|
rs762677340
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
|
rs139293893
|
|
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)
|
rs770166503
|
|
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)
|
rs771595125
|
|
NM_001378454.1(ALMS1):c.1237+10C>G
|
rs1291450244
|
|
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)
|
rs1402244580
|
|
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=)
|
rs763511170
|
|
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)
|
rs778267451
|
|
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)
|
rs1455390186
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)
|
rs147389938
|
|
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)
|
rs1314725177
|
|
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)
|
rs1855045353
|
|
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)
|
rs755323437
|
|
NM_001876.4(CPT1A):c.2235+9G>A
|
rs1946761066
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
NM_002435.3(MPI):c.1086G>A (p.Leu362=)
|
rs905233208
|
|
NM_002435.3(MPI):c.670+9A>T
|
rs7495739
|
|
NM_002435.3(MPI):c.845-10G>C
|
rs748693066
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
NM_002485.5(NBN):c.2071-4A>T
|
rs746994234
|
|
NM_002529.4(NTRK1):c.1196-9T>C
|
rs760602338
|
|
NM_002529.4(NTRK1):c.1521C>T (p.Arg507=)
|
rs901135479
|
|
NM_002529.4(NTRK1):c.1569G>A (p.Lys523=)
|
rs1647889781
|
|
NM_002529.4(NTRK1):c.2301G>A (p.Glu767=)
|
rs753397054
|
|
NM_002529.4(NTRK1):c.435G>C (p.Leu145=)
|
rs1647275742
|
|
NM_003982.4(SLC7A7):c.499+9G>C
|
rs893853391
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
NM_004629.2(FANCG):c.511-6dup
|
rs376732298
|
|
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)
|
rs147428183
|
|
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)
|
rs560868487
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
NM_005609.4(PYGM):c.999+9C>T
|
rs183026465
|
|
NM_005957.5(MTHFR):c.469C>A (p.Arg157=)
|
rs776195746
|
|
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
|
rs2233322
|
|
NM_006096.4(NDRG1):c.666C>A (p.Gly222=)
|
rs1432095364
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
NM_006493.4(CLN5):c.162G>A (p.Pro54=)
|
rs754303449
|
|
NM_007259.5(VPS45):c.702C>T (p.Ala234=)
|
rs782301145
|
|
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=)
|
rs150785761
|
|
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=)
|
rs1282648211
|
|
NM_012243.3(SLC35A3):c.888-10T>A
|
rs750539187
|
|
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)
|
rs1167569087
|
|
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)
|
rs375775300
|
|
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)
|
rs758599662
|
|
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)
|
rs571054777
|
|
NM_014297.5(ETHE1):c.378G>T (p.Ala126=)
|
rs138427304
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=)
|
rs199827410
|
|
NM_014844.5(TECPR2):c.423A>G (p.Lys141=)
|
rs756199626
|
|
NM_014844.5(TECPR2):c.726A>T (p.Leu242=)
|
rs748794723
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=)
|
rs1481445686
|
|
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)
|
rs111773727
|
|
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)
|
rs574801192
|
|
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)
|
rs587774476
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=)
|
rs1581893486
|
|
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
|
rs138672830
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)
|
rs781485593
|
|
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)
|
rs1581909859
|
|
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)
|
rs1581815094
|
|
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)
|
rs1373102999
|
|
NM_138694.4(PKHD1):c.402G>A (p.Ala134=)
|
rs200992930
|
|
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=)
|
rs1802043497
|
|
NM_138694.4(PKHD1):c.449-6A>T
|
rs200204976
|
|
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=)
|
rs144841026
|
|
NM_138694.4(PKHD1):c.534G>A (p.Val178=)
|
rs1226545035
|
|
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)
|
rs137925439
|
|
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
|
rs551783157
|
|
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
|
rs778124617
|
|
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)
|
rs368194577
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=)
|
rs765985090
|
|
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=)
|
rs752563887
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=)
|
rs61753726
|
|
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu)
|
rs372585253
|
|
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=)
|
rs143115716
|
|
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)
|
rs141211386
|
|
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)
|
rs2130339813
|
|
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val)
|
rs779095081
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
NM_182760.4(SUMF1):c.16C>T (p.Leu6=)
|
rs774160105
|
|