NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435
|
0.07143
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)
|
rs140437150
|
0.00354
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_000527.4(LDLR):c.-217C>T
|
rs17249141
|
0.00338
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_003227.4(TFR2):c.1473G>A (p.Glu491=)
|
rs139178017
|
0.00289
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00196
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)
|
rs201519016
|
0.00185
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)
|
rs147046379
|
0.00175
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)
|
rs140542428
|
0.00149
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000151.4(G6PC1):c.-45G>A
|
rs367816430
|
0.00137
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)
|
rs76708715
|
0.00133
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)
|
rs144252108
|
0.00130
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_014140.4(SMARCAL1):c.1851+5G>A
|
rs2066514
|
0.00122
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)
|
rs61733327
|
0.00114
|
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)
|
rs141890870
|
0.00114
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)
|
rs143550996
|
0.00108
|
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
0.00108
|
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser)
|
rs145197904
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)
|
rs34216426
|
0.00098
|
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)
|
rs76946640
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)
|
rs148454724
|
0.00093
|
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)
|
rs138049763
|
0.00093
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
NM_005726.6(TSFM):c.69T>A (p.Leu23=)
|
rs147317818
|
0.00086
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)
|
rs143723093
|
0.00084
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
NM_000128.4(F11):c.797G>A (p.Ser266Asn)
|
rs145168351
|
0.00081
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)
|
rs188011013
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_000023.4(SGCA):c.843C>A (p.Ala281=)
|
rs149487996
|
0.00080
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)
|
rs147576439
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)
|
rs201592854
|
0.00079
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)
|
rs145386883
|
0.00078
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)
|
rs35070204
|
0.00073
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_213653.4(HJV):c.510C>T (p.Phe170=)
|
rs139281553
|
0.00071
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_000237.3(LPL):c.786G>A (p.Gln262=)
|
rs140986245
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)
|
rs116247954
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=)
|
rs147611409
|
0.00061
|
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)
|
rs117987946
|
0.00061
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)
|
rs150927045
|
0.00058
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
rs61745540
|
0.00058
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_000157.4(GBA1):c.474C>T (p.Ile158=)
|
rs147411159
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=)
|
rs149264256
|
0.00056
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)
|
rs150440590
|
0.00056
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)
|
rs146222244
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_000094.4(COL7A1):c.810G>A (p.Thr270=)
|
rs138770708
|
0.00052
|
NM_000359.3(TGM1):c.270T>A (p.Pro90=)
|
rs201400055
|
0.00052
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)
|
rs147582935
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000246.4(CIITA):c.931A>G (p.Met311Val)
|
rs140139362
|
0.00050
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)
|
rs374510402
|
0.00048
|
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)
|
rs374443915
|
0.00048
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)
|
rs144978857
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)
|
rs199632510
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_004035.7(ACOX1):c.1344G>A (p.Val448=)
|
rs753969664
|
0.00045
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)
|
rs532275192
|
0.00044
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889
|
0.00043
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)
|
rs185347145
|
0.00042
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)
|
rs141529327
|
0.00042
|
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)
|
rs146050361
|
0.00042
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)
|
rs149931573
|
0.00041
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_000359.3(TGM1):c.2160C>T (p.Thr720=)
|
rs139387079
|
0.00040
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
NM_000536.4(RAG2):c.477C>T (p.Arg159=)
|
rs141659100
|
0.00037
|
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)
|
rs190386780
|
0.00037
|
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)
|
rs143139259
|
0.00036
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)
|
rs532986882
|
0.00036
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)
|
rs113967847
|
0.00036
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)
|
rs373952002
|
0.00036
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000246.4(CIITA):c.456G>A (p.Pro152=)
|
rs151317882
|
0.00035
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)
|
rs781468690
|
0.00035
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)
|
rs201356862
|
0.00035
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)
|
rs374163604
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met)
|
rs141697267
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000317.3(PTS):c.17G>T (p.Gly6Val)
|
rs138154701
|
0.00031
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)
|
rs77053118
|
0.00031
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)
|
rs200608977
|
0.00031
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)
|
rs143754187
|
0.00031
|
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)
|
rs200806435
|
0.00030
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
0.00030
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00029
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu)
|
rs149022686
|
0.00029
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
0.00028
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)
|
rs368913905
|
0.00027
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)
|
rs139944387
|
0.00026
|
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)
|
rs186138859
|
0.00026
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000169.3(GLA):c.-44C>T
|
rs781906252
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504
|
0.00025
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)
|
rs140090983
|
0.00025
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
NM_000246.4(CIITA):c.2817-10T>C
|
rs75381106
|
0.00024
|
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)
|
rs147479810
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
0.00024
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)
|
rs201681875
|
0.00023
|
NM_213653.4(HJV):c.435G>C (p.Pro145=)
|
rs370184725
|
0.00023
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000237.3(LPL):c.687T>C (p.His229=)
|
rs45607438
|
0.00022
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)
|
rs141329633
|
0.00022
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
rs144654282
|
0.00021
|
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)
|
rs189550119
|
0.00021
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257
|
0.00021
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
0.00021
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
NM_000092.5(COL4A4):c.193-9C>G
|
rs190570269
|
0.00020
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)
|
rs144496536
|
0.00020
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
NM_001003722.2(GLE1):c.643-4A>G
|
rs369804957
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00019
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)
|
rs372223196
|
0.00019
|
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)
|
rs200833797
|
0.00019
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)
|
rs202247664
|
0.00019
|
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)
|
rs200017171
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)
|
rs374717566
|
0.00018
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
NM_000441.2(SLC26A4):c.919-18T>G
|
rs767147359
|
0.00017
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)
|
rs143562020
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)
|
rs531326479
|
0.00016
|
NM_054012.4(ASS1):c.174+4C>A
|
rs368133957
|
0.00016
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro)
|
rs755340663
|
0.00015
|
NM_000094.4(COL7A1):c.630C>T (p.Leu210=)
|
rs117857033
|
0.00015
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)
|
rs201446793
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)
|
rs779507390
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)
|
rs2228239
|
0.00014
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)
|
rs112329020
|
0.00014
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)
|
rs774049893
|
0.00014
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
0.00014
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)
|
rs145191057
|
0.00014
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)
|
rs145288815
|
0.00014
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)
|
rs780702951
|
0.00014
|
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)
|
rs368883473
|
0.00014
|
NM_201525.4(ADGRG1):c.1287-6G>A
|
rs112805221
|
0.00014
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
|
rs144756110
|
0.00013
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
NM_000237.3(LPL):c.528C>G (p.Val176=)
|
rs199606532
|
0.00013
|
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)
|
rs143497260
|
0.00013
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_003227.4(TFR2):c.1863C>T (p.Ala621=)
|
rs374489702
|
0.00013
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)
|
rs369176493
|
0.00013
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
NM_000359.3(TGM1):c.885C>T (p.His295=)
|
rs186352813
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)
|
rs141642284
|
0.00012
|
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)
|
rs150686112
|
0.00012
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)
|
rs192607073
|
0.00012
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
0.00012
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_000018.4(ACADVL):c.*8C>T
|
rs370513576
|
0.00011
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000098.3(CPT2):c.45G>T (p.Ala15=)
|
rs761850684
|
0.00011
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln)
|
rs201182990
|
0.00011
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)
|
rs199653554
|
0.00011
|
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021
|
0.00011
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000094.4(COL7A1):c.520+9C>T
|
rs368959634
|
0.00010
|
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys)
|
rs200938473
|
0.00010
|
NM_000133.4(F9):c.769G>A (p.Val257Ile)
|
rs200608775
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)
|
rs186233985
|
0.00010
|
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)
|
rs190605644
|
0.00010
|
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)
|
rs140020076
|
0.00010
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)
|
rs200382943
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
NM_000359.3(TGM1):c.177C>T (p.Asp59=)
|
rs8193031
|
0.00009
|
NM_000396.4(CTSK):c.22C>T (p.Leu8=)
|
rs138360770
|
0.00009
|
NM_000396.4(CTSK):c.244-10_244-8del
|
rs774922287
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)
|
rs894593728
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)
|
rs200037593
|
0.00009
|
NM_018006.5(TRMU):c.1188C>G (p.Gly396=)
|
rs142346622
|
0.00009
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
NM_025215.6(PUS1):c.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)
|
rs202080062
|
0.00009
|
NM_130849.4(SLC39A4):c.1149+9C>T
|
rs139192292
|
0.00009
|
NM_130849.4(SLC39A4):c.804+9C>T
|
rs200693339
|
0.00009
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)
|
rs553503699
|
0.00008
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)
|
rs370857842
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097
|
0.00007
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
0.00007
|
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile)
|
rs143260706
|
0.00007
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)
|
rs139205111
|
0.00007
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
NM_054012.4(ASS1):c.174+10G>A
|
rs371597908
|
0.00007
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)
|
rs767374241
|
0.00006
|
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=)
|
rs142686837
|
0.00006
|
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr)
|
rs780506505
|
0.00006
|
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)
|
rs139905959
|
0.00006
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00006
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met)
|
rs200742204
|
0.00006
|
NM_000246.4(CIITA):c.384C>T (p.Ile128=)
|
rs140106499
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000359.3(TGM1):c.1761C>T (p.Asp587=)
|
rs751201972
|
0.00006
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)
|
rs767474985
|
0.00006
|
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)
|
rs13306666
|
0.00006
|
NM_001164508.2(NEB):c.2415T>C (p.Asp805=)
|
rs566989836
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=)
|
rs753440039
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)
|
rs145344767
|
0.00006
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr)
|
rs375191740
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg)
|
rs772792595
|
0.00006
|
NM_015166.4(MLC1):c.715-5C>A
|
rs751850836
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)
|
rs535704197
|
0.00006
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_130849.4(SLC39A4):c.1323T>C (p.His441=)
|
rs143819461
|
0.00006
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)
|
rs537754916
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)
|
rs757803799
|
0.00005
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr)
|
rs782790088
|
0.00005
|
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)
|
rs559422558
|
0.00005
|
NM_020533.3(MCOLN1):c.876C>T (p.His292=)
|
rs199588225
|
0.00005
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)
|
rs772143528
|
0.00004
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
|
rs573530168
|
0.00004
|
NM_000133.4(F9):c.582T>G (p.Thr194=)
|
rs754155651
|
0.00004
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala)
|
rs142257962
|
0.00004
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)
|
rs371355878
|
0.00004
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00004
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)
|
rs750159862
|
0.00004
|
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)
|
rs774772480
|
0.00004
|
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)
|
rs147032284
|
0.00004
|
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)
|
rs555516831
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)
|
rs369671177
|
0.00004
|
NM_003907.3(EIF2B5):c.453G>A (p.Val151=)
|
rs376258328
|
0.00004
|
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)
|
rs763119311
|
0.00004
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
NM_014140.4(SMARCAL1):c.1147+8G>A
|
rs759562755
|
0.00004
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
NM_015166.4(MLC1):c.1032C>T (p.Asn344=)
|
rs199707637
|
0.00004
|
NM_016277.5(RAB23):c.54A>G (p.Gly18=)
|
rs767442221
|
0.00004
|
NM_018006.5(TRMU):c.1164G>A (p.Pro388=)
|
rs202047181
|
0.00004
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)
|
rs749061654
|
0.00004
|
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)
|
rs201076545
|
0.00004
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)
|
rs782355343
|
0.00004
|
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)
|
rs886056063
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
NM_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
|
rs180177188
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
NM_000094.4(COL7A1):c.4782+9A>T
|
rs369635501
|
0.00003
|
NM_000133.4(F9):c.391+4A>G
|
rs749754992
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)
|
rs200708414
|
0.00003
|
NM_000359.3(TGM1):c.2337C>T (p.His779=)
|
rs755635993
|
0.00003
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
|
rs543852919
|
0.00003
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)
|
rs572189652
|
0.00003
|
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)
|
rs371570995
|
0.00003
|
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)
|
rs200477386
|
0.00003
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=)
|
rs751446315
|
0.00003
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=)
|
rs542159010
|
0.00003
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)
|
rs782551106
|
0.00003
|
NM_005726.6(TSFM):c.816C>T (p.Asp272=)
|
rs183575246
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
NM_032520.5(GNPTG):c.42C>T (p.Leu14=)
|
rs776361173
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile)
|
rs753781360
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00002
|
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)
|
rs370886041
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)
|
rs577520250
|
0.00002
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)
|
rs3761507
|
0.00002
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)
|
rs562984167
|
0.00002
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
|
rs761428155
|
0.00002
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)
|
rs374858340
|
0.00002
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.4345-8C>T
|
rs886044675
|
0.00002
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)
|
rs775353413
|
0.00002
|
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)
|
rs144494809
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)
|
rs371813268
|
0.00002
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
NM_000049.4(ASPA):c.807G>A (p.Thr269=)
|
rs759106494
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)
|
rs35900050
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000235.4(LIPA):c.318C>T (p.Phe106=)
|
rs1438679981
|
0.00001
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009
|
0.00001
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)
|
rs758045328
|
0.00001
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
NM_000487.6(ARSA):c.279C>T (p.Val93=)
|
rs756760904
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
NM_000536.4(RAG2):c.63G>A (p.Leu21=)
|
rs142797325
|
0.00001
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_001079866.2(BCS1L):c.258T>C (p.His86=)
|
rs886055627
|
0.00001
|
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)
|
rs781666793
|
0.00001
|
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=)
|
rs537706381
|
0.00001
|
NM_001127671.2(LIFR):c.819T>C (p.Ser273=)
|
rs756161883
|
0.00001
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
NM_001164508.2(NEB):c.22986T>C (p.His7662=)
|
rs149606244
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916
|
0.00001
|
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)
|
rs886057957
|
0.00001
|
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)
|
rs772732061
|
0.00001
|
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)
|
rs761565265
|
0.00001
|
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)
|
rs756807336
|
0.00001
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
|
rs201735614
|
0.00001
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=)
|
rs777036069
|
0.00001
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
0.00001
|
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)
|
rs140482502
|
0.00001
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
|
rs752083773
|
0.00001
|
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
|
rs750372409
|
0.00001
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr)
|
rs116253192
|
|
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)
|
rs74806537
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000478.6(ALPL):c.1557C>A (p.Pro519=)
|
rs376020180
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.694+25C>T
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)
|
rs147748696
|
|
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)
|
rs771460783
|
|
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)
|
rs139809889
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)
|
rs574746662
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)
|
rs542412132
|
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)
|
rs141147618
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
NM_005726.6(TSFM):c.408G>A (p.Leu136=)
|
rs144109380
|
|
NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe)
|
rs548510701
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)
|
rs1174228917
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)
|
rs763392299
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del)
|
rs572609303
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=)
|
rs371345093
|
|
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)
|
rs200417975
|
|
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)
|
rs754258764
|
|
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)
|
rs555336070
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)
|
rs886056061
|
|
NM_133259.4(LRPPRC):c.346+9A>C
|
rs754438818
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
|
rs779418460
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)
|
rs776028375
|
|
NM_213653.4(HJV):c.345C>T (p.Ile115=)
|
rs142575526
|
|