NM_020451.2(SELENON):c.-42T>C
|
rs12121707
|
0.99972
|
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.61566
|
NM_007214.5(SEC63):c.1936-7_1936-5dup
|
rs766716921
|
0.15112
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
NM_018206.6(VPS35):c.*283del
|
rs886052005
|
0.07609
|
NM_022356.4(P3H1):c.*77C>T
|
rs13871
|
0.06035
|
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)
|
rs6700677
|
0.06024
|
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)
|
rs11581921
|
0.05897
|
NM_001202.6(BMP4):c.*148_*149del
|
rs140085940
|
0.04744
|
NM_003721.4(RFXANK):c.213C>T (p.Thr71=)
|
rs72997200
|
0.04571
|
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)
|
rs55716016
|
0.04262
|
NM_000295.5(SERPINA1):c.-10T>C
|
rs11558258
|
0.02837
|
NM_213599.3(ANO5):c.*554C>T
|
rs117180492
|
0.02476
|
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)
|
rs16849700
|
0.02374
|
NM_213599.3(ANO5):c.*279G>A
|
rs72982058
|
0.02298
|
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro)
|
rs372125621
|
0.02081
|
NM_016938.5(EFEMP2):c.-113C>T
|
rs188624478
|
0.02060
|
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)
|
rs114082868
|
0.02057
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser)
|
rs33931006
|
0.01841
|
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)
|
rs77344166
|
0.01778
|
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)
|
rs61746201
|
0.01772
|
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)
|
rs61757683
|
0.01760
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
NM_022356.4(P3H1):c.1284C>T (p.Ile428=)
|
rs61746642
|
0.01592
|
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)
|
rs118191062
|
0.01583
|
NM_022356.4(P3H1):c.1026C>T (p.Ala342=)
|
rs61100157
|
0.01581
|
NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=)
|
rs41265019
|
0.01581
|
NM_022356.4(P3H1):c.1569+3A>G
|
rs76871760
|
0.01579
|
NM_022356.4(P3H1):c.1812C>T (p.Pro604=)
|
rs34809608
|
0.01577
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)
|
rs34589386
|
0.01503
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)
|
rs72657371
|
0.01466
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=)
|
rs72657372
|
0.01452
|
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)
|
rs9904366
|
0.01403
|
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
|
rs1801158
|
0.01380
|
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)
|
rs118174674
|
0.01368
|
NM_014249.4(NR2E3):c.505C>T (p.Leu169=)
|
rs1805022
|
0.01351
|
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=)
|
rs147536061
|
0.01340
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_001277115.2(DNAH11):c.6683+13C>G
|
rs17145077
|
0.01337
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_018249.6(CDK5RAP2):c.880-7A>G
|
rs76132121
|
0.01314
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)
|
rs11549709
|
0.01280
|
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)
|
rs13027659
|
0.01279
|
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)
|
rs140578009
|
0.01275
|
NM_001277115.2(DNAH11):c.9102+8G>A
|
rs72657374
|
0.01255
|
NM_001161748.2(LIM2):c.231C>T (p.Ser77=)
|
rs8111243
|
0.01252
|
NM_022356.4(P3H1):c.978C>T (p.Thr326=)
|
rs74070022
|
0.01251
|
NM_213599.3(ANO5):c.*1328C>T
|
rs78089375
|
0.01250
|
NM_213599.3(ANO5):c.-261A>C
|
rs114897158
|
0.01250
|
NM_213599.3(ANO5):c.*1661C>T
|
rs12284506
|
0.01249
|
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)
|
rs148429731
|
0.01214
|
NM_001377.3(DYNC2H1):c.195+7T>C
|
rs112718117
|
0.01205
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser)
|
rs143316414
|
0.01192
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)
|
rs35865357
|
0.01156
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg)
|
rs144717489
|
0.01113
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_022356.4(P3H1):c.1233G>A (p.Arg411=)
|
rs61746653
|
0.01103
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
|
rs76576806
|
0.01043
|
NM_000027.4(AGA):c.622+13T>C
|
rs75260482
|
0.01039
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)
|
rs117685875
|
0.01001
|
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)
|
rs61755434
|
0.00997
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_033100.4(CDHR1):c.240C>T (p.Val80=)
|
rs11593005
|
0.00943
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_139343.3(BIN1):c.1263+11C>T
|
rs78967885
|
0.00935
|
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)
|
rs139436396
|
0.00934
|
NM_000027.4(AGA):c.1023A>G (p.Glu341=)
|
rs113407270
|
0.00929
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=)
|
rs79119693
|
0.00895
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_000243.3(MEFV):c.1261-11T>G
|
rs77086855
|
0.00875
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_004278.4(PIGL):c.*254T>C
|
rs144070256
|
0.00867
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_018249.6(CDK5RAP2):c.307-4G>A
|
rs7030969
|
0.00860
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)
|
rs34049451
|
0.00854
|
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=)
|
rs113794264
|
0.00845
|
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)
|
rs138047593
|
0.00841
|
NM_033100.4(CDHR1):c.2041-15G>A
|
rs61867367
|
0.00830
|
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
|
rs34179337
|
0.00827
|
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)
|
rs77289466
|
0.00827
|
NM_000687.4(AHCY):c.-34C>T
|
rs57344541
|
0.00825
|
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)
|
rs116727742
|
0.00819
|
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)
|
rs114583297
|
0.00817
|
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)
|
rs61732733
|
0.00809
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_000231.3(SGCG):c.*10G>A
|
rs139369964
|
0.00794
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_000237.3(LPL):c.-283G>T
|
rs80351041
|
0.00790
|
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)
|
rs75092434
|
0.00783
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly)
|
rs16978578
|
0.00777
|
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)
|
rs61688134
|
0.00769
|
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)
|
rs75099879
|
0.00758
|
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=)
|
rs75932225
|
0.00755
|
NM_001360.3(DHCR7):c.-195G>T
|
rs141057811
|
0.00755
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00730
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_003465.3(CHIT1):c.56-8C>T
|
rs116389839
|
0.00696
|
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His)
|
rs115480556
|
0.00689
|
NM_014336.5(AIPL1):c.642+14G>A
|
rs188779461
|
0.00682
|
NM_001395413.1(POR):c.78G>A (p.Thr26=)
|
rs41295381
|
0.00681
|
NM_003465.3(CHIT1):c.1350C>T (p.Cys450=)
|
rs73066396
|
0.00675
|
NM_000037.4(ANK1):c.1590C>T (p.Ala530=)
|
rs61758865
|
0.00673
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_000350.3(ABCA4):c.*10C>A
|
rs145634012
|
0.00671
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461
|
0.00664
|
NM_022356.4(P3H1):c.-45C>T
|
rs183564323
|
0.00663
|
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=)
|
rs6236
|
0.00661
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=)
|
rs117297079
|
0.00657
|
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile)
|
rs115275492
|
0.00656
|
NM_000453.3(SLC5A5):c.839+11C>T
|
rs182064161
|
0.00650
|
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=)
|
rs28370951
|
0.00650
|
NM_001384474.1(LOXHD1):c.1431+10G>T
|
rs57330753
|
0.00648
|
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
NM_032601.4(MCEE):c.102C>G (p.Pro34=)
|
rs146573280
|
0.00646
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)
|
rs149314387
|
0.00644
|
NM_014336.5(AIPL1):c.765T>C (p.Asp255=)
|
rs62637018
|
0.00643
|
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)
|
rs114949291
|
0.00641
|
NM_003283.6(TNNT1):c.310-14T>C
|
rs115663668
|
0.00636
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_017526.5(LEPROT):c.21C>T (p.Leu7=)
|
rs13306523
|
0.00623
|
NM_014297.5(ETHE1):c.-45G>A
|
rs144136377
|
0.00621
|
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)
|
rs112828880
|
0.00620
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)
|
rs73682656
|
0.00615
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)
|
rs61737514
|
0.00612
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met)
|
rs114128928
|
0.00612
|
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)
|
rs35946774
|
0.00608
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=)
|
rs144624858
|
0.00606
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00595
|
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)
|
rs59915619
|
0.00594
|
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)
|
rs45479896
|
0.00589
|
NM_000112.4(SLC26A2):c.*330G>T
|
rs191884433
|
0.00587
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
NM_000070.3(CAPN3):c.2381-12A>G
|
rs73402734
|
0.00578
|
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His)
|
rs78847357
|
0.00577
|
NM_001256545.2(MEGF10):c.489C>T (p.Ile163=)
|
rs34649270
|
0.00577
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001395413.1(POR):c.1889+3G>A
|
rs41301439
|
0.00568
|
NM_004273.5(CHST3):c.417C>T (p.Ala139=)
|
rs144287889
|
0.00564
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)
|
rs78599571
|
0.00555
|
NM_001145308.4(LRTOMT):c.-602G>A
|
rs111537544
|
0.00551
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_000018.3(ACADVL):c.-64T>C
|
rs77051465
|
0.00545
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)
|
rs147376000
|
0.00541
|
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)
|
rs200249458
|
0.00538
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00522
|
NM_000410.4(HFE):c.1026C>T (p.Tyr342=)
|
rs35201683
|
0.00515
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)
|
rs35578974
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089
|
0.00511
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_016203.4(PRKAG2):c.-322T>C
|
rs142348760
|
0.00504
|
NM_016203.4(PRKAG2):c.-40C>T
|
rs148715621
|
0.00503
|
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)
|
rs112551069
|
0.00501
|
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)
|
rs5346
|
0.00500
|
NM_139343.3(BIN1):c.1132-7T>C
|
rs115938552
|
0.00498
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)
|
rs72655984
|
0.00494
|
NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=)
|
rs36061366
|
0.00492
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)
|
rs111291014
|
0.00488
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=)
|
rs181591912
|
0.00482
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)
|
rs35176378
|
0.00480
|
NM_004273.5(CHST3):c.561G>C (p.Val187=)
|
rs147804585
|
0.00480
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_001130987.2(DYSF):c.2980-15C>T
|
rs148732505
|
0.00477
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)
|
rs149637884
|
0.00473
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
NM_001277115.2(DNAH11):c.6468+14T>C
|
rs114409690
|
0.00469
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)
|
rs117516263
|
0.00465
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)
|
rs138054675
|
0.00464
|
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=)
|
rs59933498
|
0.00463
|
NM_001395413.1(POR):c.508-4G>A
|
rs41299496
|
0.00462
|
NM_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00461
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_014336.5(AIPL1):c.97-9G>A
|
rs140124986
|
0.00457
|
NM_003322.6(TULP1):c.1341G>A (p.Leu447=)
|
rs61734562
|
0.00456
|
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)
|
rs117336941
|
0.00456
|
NM_000027.4(AGA):c.60A>G (p.Leu20=)
|
rs114918706
|
0.00453
|
NM_017636.4(TRPM4):c.755G>A (p.Arg252His)
|
rs146564314
|
0.00453
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)
|
rs72657379
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_000350.3(ABCA4):c.*136G>A
|
rs55665437
|
0.00448
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_002234.4(KCNA5):c.615G>C (p.Leu205=)
|
rs12720443
|
0.00441
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)
|
rs76750525
|
0.00433
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)
|
rs41295338
|
0.00428
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)
|
rs72657373
|
0.00428
|
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)
|
rs146737847
|
0.00428
|
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=)
|
rs73066400
|
0.00427
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=)
|
rs61758866
|
0.00422
|
NM_001277115.2(DNAH11):c.8478C>T (p.His2826=)
|
rs62445328
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)
|
rs139340058
|
0.00417
|
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp)
|
rs142105943
|
0.00417
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=)
|
rs182293382
|
0.00413
|
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)
|
rs34030828
|
0.00408
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_000037.4(ANK1):c.1506C>T (p.Ala502=)
|
rs34387324
|
0.00407
|
NM_004870.4(MPDU1):c.618+14C>T
|
rs11078699
|
0.00407
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)
|
rs147967974
|
0.00405
|
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys)
|
rs112618498
|
0.00404
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_139343.3(BIN1):c.888C>T (p.Ser296=)
|
rs114833236
|
0.00403
|
NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys)
|
rs78653098
|
0.00401
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
NM_001277115.2(DNAH11):c.13050-15C>T
|
rs149634292
|
0.00399
|
NM_000507.4(FBP1):c.237C>T (p.Asn79=)
|
rs201591116
|
0.00398
|
NM_000515.5(GH1):c.150C>A (p.Ala50=)
|
rs61735359
|
0.00398
|
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)
|
rs141750466
|
0.00398
|
NM_003465.3(CHIT1):c.780G>A (p.Leu260=)
|
rs145366738
|
0.00397
|
NM_004273.5(CHST3):c.828C>T (p.Arg276=)
|
rs140547825
|
0.00397
|
NM_003465.3(CHIT1):c.759G>A (p.Lys253=)
|
rs138767766
|
0.00396
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
NM_001134363.3(RBM20):c.1275+13A>G
|
rs373230569
|
0.00392
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
NM_017636.4(TRPM4):c.870C>T (p.Asn290=)
|
rs141997826
|
0.00389
|
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)
|
rs6207
|
0.00387
|
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)
|
rs2234916
|
0.00387
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_003465.3(CHIT1):c.422A>C (p.Tyr141Ser)
|
rs183706407
|
0.00386
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)
|
rs41303495
|
0.00384
|
NM_138959.3(VANGL1):c.*3608C>T
|
rs555833838
|
0.00381
|
NM_000037.4(ANK1):c.2403G>A (p.Lys801=)
|
rs147130318
|
0.00376
|
NM_000037.4(ANK1):c.2735+10G>A
|
rs75296105
|
0.00374
|
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=)
|
rs150548640
|
0.00374
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_001134363.3(RBM20):c.3452-10C>T
|
rs60618533
|
0.00369
|
NM_002234.4(KCNA5):c.570C>T (p.Asn190=)
|
rs12720444
|
0.00368
|
NM_001045.6(SLC6A4):c.705C>T (p.His235=)
|
rs41274284
|
0.00366
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)
|
rs142881106
|
0.00365
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)
|
rs187489343
|
0.00361
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)
|
rs115030299
|
0.00351
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met)
|
rs5350
|
0.00348
|
NM_012092.4(ICOS):c.58+9T>G
|
rs140049646
|
0.00348
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)
|
rs144537241
|
0.00345
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)
|
rs202082545
|
0.00344
|
NM_014249.4(NR2E3):c.349+8G>A
|
rs112520386
|
0.00344
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys)
|
rs137852607
|
0.00342
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)
|
rs201687417
|
0.00341
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283
|
0.00340
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)
|
rs61731652
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)
|
rs112600265
|
0.00333
|
NM_000726.5(CACNB4):c.*624A>T
|
rs755272601
|
0.00332
|
NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His)
|
rs151018293
|
0.00330
|
NM_001355436.2(SPTB):c.345T>C (p.Asn115=)
|
rs17180518
|
0.00330
|
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)
|
rs74423119
|
0.00327
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000350.3(ABCA4):c.4352+14C>T
|
rs75359153
|
0.00325
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)
|
rs45549246
|
0.00324
|
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)
|
rs146682319
|
0.00321
|
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)
|
rs3738497
|
0.00321
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg)
|
rs141381896
|
0.00317
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=)
|
rs367833904
|
0.00315
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_138694.4(PKHD1):c.2715+7del
|
rs551015414
|
0.00313
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu)
|
rs150391806
|
0.00310
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)
|
rs138354681
|
0.00308
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
|
rs141112088
|
0.00305
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_003748.4(ALDH4A1):c.1185+10G>A
|
rs201079601
|
0.00301
|
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)
|
rs201207627
|
0.00299
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_014908.4(DOLK):c.186G>A (p.Arg62=)
|
rs148171062
|
0.00299
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_000726.5(CACNB4):c.*5022A>G
|
rs548177540
|
0.00298
|
NM_001130987.2(DYSF):c.3496+14C>T
|
rs112034381
|
0.00297
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_022356.4(P3H1):c.1473+5G>T
|
rs114044880
|
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_003283.6(TNNT1):c.279A>G (p.Glu93=)
|
rs34313388
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)
|
rs77696190
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)
|
rs61736350
|
0.00284
|
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=)
|
rs141379070
|
0.00284
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
NM_033337.3(CAV3):c.-37G>A
|
rs116840771
|
0.00282
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)
|
rs139586720
|
0.00279
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)
|
rs145402135
|
0.00277
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_003172.4(SURF1):c.54+10G>A
|
rs587598397
|
0.00276
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=)
|
rs56118173
|
0.00274
|
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)
|
rs141587158
|
0.00273
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=)
|
rs114168492
|
0.00272
|
NM_032382.5(COG8):c.903C>G (p.Pro301=)
|
rs140736262
|
0.00271
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_153427.3(PITX2):c.-211G>A
|
rs111733107
|
0.00270
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
NM_014000.3(VCL):c.3258+10A>T
|
rs71579379
|
0.00267
|
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=)
|
rs151137503
|
0.00267
|
NM_000073.3(CD3G):c.79+10A>G
|
rs115851096
|
0.00266
|
NM_001358530.2(MOCS1):c.124-69G>A
|
rs45487695
|
0.00266
|
NM_002778.4(PSAP):c.189C>T (p.Cys63=)
|
rs111369573
|
0.00266
|
NM_006348.5(COG5):c.1262A>G (p.His421Arg)
|
rs35393416
|
0.00266
|
NM_000751.3(CHRND):c.414C>T (p.Phe138=)
|
rs150208750
|
0.00265
|
NM_001369369.1(FOXN1):c.550C>A (p.Leu184Ile)
|
rs202144980
|
0.00264
|
NM_016239.4(MYO15A):c.4779+9G>A
|
rs183256997
|
0.00264
|
NM_031433.4(MFRP):c.773-8A>C
|
rs143891457
|
0.00264
|
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
|
rs192027050
|
0.00262
|
NM_198525.3(KIF7):c.2192-13C>T
|
rs201251064
|
0.00262
|
NM_000345.4(SNCA):c.*1289T>C
|
rs527798413
|
0.00261
|
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)
|
rs201251634
|
0.00261
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
NM_020297.4(ABCC9):c.2093-7T>C
|
rs185235724
|
0.00261
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)
|
rs146630359
|
0.00260
|
NM_001256545.2(MEGF10):c.303C>T (p.Ser101=)
|
rs77203884
|
0.00260
|
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=)
|
rs373828157
|
0.00260
|
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)
|
rs150356488
|
0.00259
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)
|
rs61781316
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)
|
rs41292388
|
0.00255
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_001256545.2(MEGF10):c.1002C>T (p.His334=)
|
rs142947482
|
0.00254
|
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
|
rs138416154
|
0.00252
|
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)
|
rs145686117
|
0.00250
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
|
rs139640415
|
0.00249
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)
|
rs75398993
|
0.00245
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00245
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=)
|
rs146075981
|
0.00243
|
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)
|
rs182389910
|
0.00242
|
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)
|
rs61731628
|
0.00240
|
NM_000553.6(WRN):c.1981+11A>G
|
rs189999761
|
0.00240
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
NM_001358530.2(MOCS1):c.1668C>T (p.His556=)
|
rs149233109
|
0.00240
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_000211.5(ITGB2):c.525C>T (p.Thr175=)
|
rs200134130
|
0.00236
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)
|
rs78135392
|
0.00236
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)
|
rs79955190
|
0.00235
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)
|
rs149504235
|
0.00235
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_145309.6(LRRC51):c.255C>T (p.Asp85=)
|
rs145851613
|
0.00232
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=)
|
rs147754092
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=)
|
rs139929890
|
0.00229
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu)
|
rs116500162
|
0.00227
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)
|
rs148857575
|
0.00222
|
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)
|
rs74056006
|
0.00222
|
NM_012275.3(IL36RN):c.6C>T (p.Val2=)
|
rs28938771
|
0.00221
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)
|
rs145239537
|
0.00220
|
NM_025137.4(SPG11):c.4001+9G>T
|
rs141177255
|
0.00220
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)
|
rs41303501
|
0.00218
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)
|
rs72657400
|
0.00213
|
NM_003227.4(TFR2):c.1995+9G>C
|
rs41295921
|
0.00213
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
NM_024105.4(ALG12):c.501C>T (p.His167=)
|
rs149845730
|
0.00212
|
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)
|
rs140821819
|
0.00211
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)
|
rs150303433
|
0.00209
|
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)
|
rs115108794
|
0.00209
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=)
|
rs35159176
|
0.00207
|
NM_006005.3(WFS1):c.-130C>T
|
rs576284630
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
NM_001164508.2(NEB):c.20466+11A>G
|
rs181826071
|
0.00206
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
NM_005908.4(MANBA):c.2191G>A (p.Val731Met)
|
rs150554352
|
0.00205
|
NM_014908.4(DOLK):c.771C>T (p.Ile257=)
|
rs147416890
|
0.00205
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
NM_022369.4(STRA6):c.993G>A (p.Thr331=)
|
rs116753967
|
0.00205
|
NM_014339.7(IL17RA):c.30T>A (p.Ala10=)
|
rs577217331
|
0.00204
|
NM_000355.4(TCN2):c.64+11C>T
|
rs141519384
|
0.00203
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)
|
rs139317762
|
0.00203
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
NM_139343.3(BIN1):c.384G>A (p.Thr128=)
|
rs61748158
|
0.00203
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_006757.4(TNNT3):c.107-6G>A
|
rs200739738
|
0.00202
|
NM_000211.5(ITGB2):c.162G>A (p.Pro54=)
|
rs138303556
|
0.00201
|
NM_000215.4(JAK3):c.108G>C (p.Gly36=)
|
rs149701114
|
0.00201
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)
|
rs17838192
|
0.00198
|
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)
|
rs229593
|
0.00197
|
NM_001369369.1(FOXN1):c.321C>T (p.Ala107=)
|
rs138295148
|
0.00197
|
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile)
|
rs142220417
|
0.00197
|
NM_000070.3(CAPN3):c.2264-11C>T
|
rs28364537
|
0.00195
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)
|
rs140768346
|
0.00193
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)
|
rs140899003
|
0.00189
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_001164508.2(NEB):c.11076+12A>G
|
rs201250579
|
0.00186
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)
|
rs138328594
|
0.00185
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg)
|
rs144665594
|
0.00184
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg)
|
rs140563851
|
0.00178
|
NM_001395413.1(POR):c.1889+13G>T
|
rs72557956
|
0.00178
|
NM_004870.4(MPDU1):c.393C>T (p.Val131=)
|
rs79286384
|
0.00178
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
0.00176
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
|
rs142473303
|
0.00176
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
NM_000159.4(GCDH):c.642G>A (p.Thr214=)
|
rs142806397
|
0.00170
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)
|
rs150148567
|
0.00169
|
NM_001008216.2(GALE):c.529-12C>T
|
rs369293480
|
0.00169
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln)
|
rs117687848
|
0.00169
|
NM_001045.6(SLC6A4):c.924T>C (p.Gly308=)
|
rs74845752
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)
|
rs144944366
|
0.00167
|
NM_013339.4(ALG6):c.1398A>T (p.Leu466=)
|
rs140158304
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)
|
rs150631721
|
0.00166
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
NM_003721.4(RFXANK):c.765G>A (p.Val255=)
|
rs113406972
|
0.00165
|
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg)
|
rs145847114
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_153427.2(PITX2):c.-793C>A
|
rs145044365
|
0.00165
|
NM_000141.5(FGFR2):c.*111G>A
|
rs574474794
|
0.00164
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=)
|
rs111486860
|
0.00162
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_014297.5(ETHE1):c.*55G>T
|
rs201842186
|
0.00160
|
NM_001232.4(CASQ2):c.421-14G>A
|
rs139281637
|
0.00159
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_001040436.3(YARS2):c.456G>A (p.Ala152=)
|
rs201940521
|
0.00157
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00156
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
NM_153603.4(COG7):c.1971C>T (p.His657=)
|
rs114458562
|
0.00156
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg)
|
rs36080296
|
0.00155
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_000529.2(MC2R):c.318C>T (p.Ile106=)
|
rs147706299
|
0.00155
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_001114134.2(EPB42):c.430+12C>T
|
rs185794093
|
0.00155
|
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=)
|
rs115882528
|
0.00155
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)
|
rs113840224
|
0.00155
|
NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala)
|
rs146023695
|
0.00155
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
NM_017636.4(TRPM4):c.1873+13C>G
|
rs184297107
|
0.00154
|
NM_138711.6(PPARG):c.150C>T (p.Asp50=)
|
rs112174008
|
0.00154
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
NM_003722.5(TP63):c.*1181T>C
|
rs565556454
|
0.00153
|
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=)
|
rs138739620
|
0.00153
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_178170.3(NEK8):c.618+12C>T
|
rs11649957
|
0.00152
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp)
|
rs149447502
|
0.00151
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)
|
rs117632905
|
0.00151
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)
|
rs34523608
|
0.00150
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=)
|
rs144723485
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_153603.4(COG7):c.2283C>T (p.Thr761=)
|
rs144814374
|
0.00150
|
NM_194318.4(B3GLCT):c.1329+6G>T
|
rs200460848
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_003748.4(ALDH4A1):c.298-14C>T
|
rs201072479
|
0.00149
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)
|
rs4987238
|
0.00148
|
NM_001130987.2(DYSF):c.2409+14G>A
|
rs141170955
|
0.00148
|
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)
|
rs145868557
|
0.00148
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=)
|
rs151255626
|
0.00147
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00143
|
NM_032634.4(PIGO):c.2166G>C (p.Ala722=)
|
rs147101825
|
0.00143
|
NM_000363.5(TNNI3):c.-85A>C
|
rs186540595
|
0.00142
|
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)
|
rs150404125
|
0.00142
|
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=)
|
rs75207686
|
0.00142
|
NM_006348.5(COG5):c.1776T>C (p.Ala592=)
|
rs142970891
|
0.00142
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_016630.7(SPG21):c.670-13G>T
|
rs115421171
|
0.00141
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_000359.3(TGM1):c.1298+9G>A
|
rs201015655
|
0.00140
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met)
|
rs140140417
|
0.00139
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
NM_024079.5(ALG8):c.675T>C (p.Asp225=)
|
rs139106381
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)
|
rs13082063
|
0.00137
|
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)
|
rs150266274
|
0.00137
|
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)
|
rs148976893
|
0.00136
|
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=)
|
rs143456239
|
0.00136
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
NM_017866.6(TMEM70):c.534T>C (p.Thr178=)
|
rs139864454
|
0.00136
|
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
|
rs200643329
|
0.00136
|
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg)
|
rs200667255
|
0.00135
|
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)
|
rs143789597
|
0.00135
|
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)
|
rs147328317
|
0.00135
|
NM_006348.5(COG5):c.2124A>G (p.Arg708=)
|
rs148020994
|
0.00135
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
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_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001164508.2(NEB):c.24874-8C>T
|
rs200902944
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001457.4(FLNB):c.420G>A (p.Thr140=)
|
rs192491895
|
0.00134
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_018714.3(COG1):c.2304A>G (p.Thr768=)
|
rs147598221
|
0.00134
|
NM_153006.3(NAGS):c.612A>G (p.Val204=)
|
rs139907815
|
0.00134
|
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)
|
rs145456588
|
0.00133
|
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=)
|
rs150968094
|
0.00133
|
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)
|
rs35006579
|
0.00133
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)
|
rs41306567
|
0.00133
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_053013.4(ENO3):c.417G>A (p.Gly139=)
|
rs142390642
|
0.00133
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
NM_001369369.1(FOXN1):c.1131G>A (p.Lys377=)
|
rs139218809
|
0.00132
|
NM_020166.5(MCCC1):c.639+13A>G
|
rs140342772
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_000159.4(GCDH):c.1197C>T (p.His399=)
|
rs139344943
|
0.00131
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser)
|
rs189427175
|
0.00131
|
NM_015192.4(PLCB1):c.1678+10C>T
|
rs369652433
|
0.00131
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
NM_001355436.2(SPTB):c.414T>C (p.Ile138=)
|
rs139699062
|
0.00130
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00129
|
NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=)
|
rs199686420
|
0.00129
|
NM_014290.3(TDRD7):c.231C>T (p.Cys77=)
|
rs143579801
|
0.00129
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
NM_006892.4(DNMT3B):c.1996+9C>T
|
rs143448185
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_015192.4(PLCB1):c.1336-13T>C
|
rs185405599
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000439.5(PCSK1):c.1197-9C>T
|
rs200973203
|
0.00125
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_144508.5(KNL1):c.165C>T (p.Asn55=)
|
rs201818761
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)
|
rs141202424
|
0.00124
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)
|
rs148778436
|
0.00124
|
NM_153603.4(COG7):c.1137+11A>C
|
rs74012174
|
0.00124
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
NM_000037.4(ANK1):c.3532+13C>A
|
rs181905023
|
0.00122
|
NM_014339.7(IL17RA):c.1407C>T (p.Cys469=)
|
rs41396346
|
0.00122
|
NM_000027.4(AGA):c.675T>C (p.Asn225=)
|
rs138699617
|
0.00121
|
NM_003227.4(TFR2):c.2172A>G (p.Pro724=)
|
rs141140309
|
0.00121
|
NM_004278.4(PIGL):c.526+10G>A
|
rs138410893
|
0.00121
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
NM_014714.4(IFT140):c.546C>T (p.Asp182=)
|
rs150014480
|
0.00120
|
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val)
|
rs141240937
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000290.4(PGAM2):c.726C>T (p.Ala242=)
|
rs142209394
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_001256545.2(MEGF10):c.2857-8T>G
|
rs201148765
|
0.00117
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
0.00116
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=)
|
rs114704569
|
0.00116
|
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)
|
rs147154947
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=)
|
rs753313963
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)
|
rs142690258
|
0.00114
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_005566.4(LDHA):c.183G>A (p.Glu61=)
|
rs149588992
|
0.00113
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_006757.4(TNNT3):c.759C>T (p.Val253=)
|
rs140388684
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=)
|
rs140993979
|
0.00111
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
NM_003331.5(TYK2):c.1869C>T (p.Asp623=)
|
rs140078545
|
0.00110
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)
|
rs145869401
|
0.00110
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000293.3(PHKB):c.270C>T (p.Cys90=)
|
rs139431568
|
0.00109
|
NM_005546.4(ITK):c.1276C>T (p.Leu426=)
|
rs145991142
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met)
|
rs202189990
|
0.00109
|
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)
|
rs140871321
|
0.00108
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
NM_002529.4(NTRK1):c.212+10C>T
|
rs183517027
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_012179.4(FBXO7):c.1144+9C>T
|
rs199954341
|
0.00106
|
NM_020533.3(MCOLN1):c.1359+11C>A
|
rs193053180
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_001355436.2(SPTB):c.204G>A (p.Leu68=)
|
rs145077630
|
0.00105
|
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)
|
rs182411153
|
0.00105
|
NM_025099.6(CTC1):c.663T>C (p.Gly221=)
|
rs138725914
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_001164508.2(NEB):c.21840+13A>C
|
rs75515097
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_003227.4(TFR2):c.473+8T>A
|
rs148902192
|
0.00103
|
NM_003227.4(TFR2):c.727-9T>A
|
rs200816061
|
0.00103
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_000037.4(ANK1):c.2589C>T (p.Pro863=)
|
rs114870847
|
0.00102
|
NM_000363.5(TNNI3):c.-103C>T
|
rs557391836
|
0.00102
|
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)
|
rs140869022
|
0.00102
|
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=)
|
rs147235045
|
0.00102
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
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_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000214.3(JAG1):c.*1551C>T
|
rs760811504
|
0.00101
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=)
|
rs146200756
|
0.00101
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=)
|
rs144270260
|
0.00101
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_021615.5(CHST6):c.993G>T (p.Gln331His)
|
rs140699573
|
0.00101
|
NM_025219.3(DNAJC5):c.*2790C>T
|
rs55665472
|
0.00101
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_001040108.2(MLH3):c.423C>T (p.Ser141=)
|
rs142179277
|
0.00100
|
NM_015192.4(PLCB1):c.1888+11G>A
|
rs150219357
|
0.00100
|
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)
|
rs147190807
|
0.00099
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
NM_007262.5(PARK7):c.501A>G (p.Ala167=)
|
rs71653621
|
0.00099
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00098
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)
|
rs187080747
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
NM_004273.5(CHST3):c.1197C>T (p.Asp399=)
|
rs184636110
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000215.4(JAK3):c.2079C>T (p.Pro693=)
|
rs145377049
|
0.00096
|
NM_000726.5(CACNB4):c.*737C>T
|
rs558590558
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_199242.3(UNC13D):c.24G>A (p.Pro8=)
|
rs143320460
|
0.00095
|
NM_001166114.2(PNPLA6):c.315+13C>T
|
rs200676307
|
0.00094
|
NM_003465.3(CHIT1):c.447C>T (p.Ala149=)
|
rs139891908
|
0.00094
|
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
|
rs140799936
|
0.00094
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=)
|
rs73273601
|
0.00093
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_003331.5(TYK2):c.2250C>T (p.Gly750=)
|
rs138652649
|
0.00093
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
NM_005529.7(HSPG2):c.958+14G>A
|
rs200930800
|
0.00092
|
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=)
|
rs141025897
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_032409.3(PINK1):c.936G>A (p.Arg312=)
|
rs56200357
|
0.00091
|
NM_153603.4(COG7):c.900C>T (p.Asn300=)
|
rs112611398
|
0.00091
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
NM_199242.3(UNC13D):c.99G>A (p.Pro33=)
|
rs147886860
|
0.00090
|
NM_000553.6(WRN):c.3900C>A (p.Pro1300=)
|
rs138886038
|
0.00089
|
NM_001482.3(GATM):c.*699A>C
|
rs750817737
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
NM_000237.3(LPL):c.345A>C (p.Ser115=)
|
rs147309575
|
0.00088
|
NM_005198.5(CHKB):c.670A>C (p.Asn224His)
|
rs149858290
|
0.00088
|
NM_005908.4(MANBA):c.479G>A (p.Arg160His)
|
rs144917953
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)
|
rs35486059
|
0.00087
|
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)
|
rs143758913
|
0.00087
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys)
|
rs140697341
|
0.00086
|
NM_032581.4(HYCC1):c.582C>T (p.Tyr194=)
|
rs148453182
|
0.00086
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_001042545.2(LTBP4):c.2681-10C>G
|
rs200914063
|
0.00084
|
NM_006757.4(TNNT3):c.68-14C>T
|
rs202175253
|
0.00084
|
NM_052989.3(IFT122):c.41+15G>T
|
rs36222038
|
0.00084
|
NM_174936.4(PCSK9):c.1929C>T (p.His643=)
|
rs145770391
|
0.00084
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_000396.4(CTSK):c.-1-9C>T
|
rs200480574
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)
|
rs149776121
|
0.00083
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
NM_014249.4(NR2E3):c.900G>A (p.Thr300=)
|
rs184906734
|
0.00083
|
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)
|
rs3758442
|
0.00083
|
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)
|
rs144951661
|
0.00083
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser)
|
rs141079733
|
0.00082
|
NM_182894.3(VSX2):c.699C>T (p.Pro233=)
|
rs141712104
|
0.00082
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001256545.2(MEGF10):c.117-5_117-4insC
|
rs538399152
|
0.00081
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
NM_001372051.1(CASP8):c.1304+12C>T
|
rs375465590
|
0.00081
|
NM_003465.3(CHIT1):c.89A>G (p.Asn30Ser)
|
rs146692911
|
0.00081
|
NM_013435.3(RAX):c.544-11C>G
|
rs200098438
|
0.00081
|
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
|
rs141993139
|
0.00081
|
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)
|
rs140411575
|
0.00081
|
NM_000246.4(CIITA):c.1068G>A (p.Pro356=)
|
rs140486686
|
0.00080
|
NM_005535.3(IL12RB1):c.273C>T (p.Ala91=)
|
rs138087003
|
0.00079
|
NM_014714.4(IFT140):c.1788T>C (p.Asp596=)
|
rs148904634
|
0.00079
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000345.4(SNCA):c.*1047T>G
|
rs532025477
|
0.00078
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_001002755.4(NFU1):c.166+8T>A
|
rs199927640
|
0.00078
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)
|
rs141800325
|
0.00078
|
NM_014140.4(SMARCAL1):c.2528+15G>A
|
rs200879397
|
0.00078
|
NM_018475.5(TMEM165):c.433+15C>A
|
rs370138167
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_153603.4(COG7):c.1113C>T (p.Leu371=)
|
rs114661874
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_153603.4(COG7):c.319-12C>T
|
rs201965984
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)
|
rs200532195
|
0.00076
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_001558.4(IL10RA):c.1401G>A (p.Ser467=)
|
rs150551465
|
0.00076
|
NM_002778.4(PSAP):c.714C>G (p.Ala238=)
|
rs141199649
|
0.00076
|
NM_006892.4(DNMT3B):c.922-8C>T
|
rs200508870
|
0.00076
|
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)
|
rs145430883
|
0.00076
|
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn)
|
rs181511327
|
0.00076
|
NM_032382.5(COG8):c.603G>A (p.Val201=)
|
rs141435327
|
0.00076
|
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)
|
rs141977229
|
0.00075
|
NM_000215.4(JAK3):c.1551T>A (p.Pro517=)
|
rs143936463
|
0.00075
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_024589.3(ROGDI):c.783C>T (p.Phe261=)
|
rs142481526
|
0.00075
|
NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg)
|
rs199629774
|
0.00074
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_000178.4(GSS):c.816T>G (p.Pro272=)
|
rs35051256
|
0.00073
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=)
|
rs181990057
|
0.00073
|
NM_001164508.2(NEB):c.5763+15C>T
|
rs148455519
|
0.00073
|
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=)
|
rs138072045
|
0.00073
|
NM_003764.4(STX11):c.681C>T (p.Leu227=)
|
rs145774130
|
0.00073
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
NM_014908.4(DOLK):c.873C>T (p.Leu291=)
|
rs148646968
|
0.00073
|
NM_024589.3(ROGDI):c.243C>T (p.Ala81=)
|
rs148051351
|
0.00073
|
NM_052945.4(TNFRSF13C):c.368-15C>A
|
rs372331667
|
0.00073
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)
|
rs186865544
|
0.00073
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
NM_004273.5(CHST3):c.1251G>C (p.Thr417=)
|
rs140411224
|
0.00072
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)
|
rs201733073
|
0.00072
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_015166.4(MLC1):c.627C>T (p.Ala209=)
|
rs138153307
|
0.00071
|
NM_018249.6(CDK5RAP2):c.1727+15C>G
|
rs188328236
|
0.00071
|
NM_024589.3(ROGDI):c.432+13C>T
|
rs371432203
|
0.00071
|
NM_001244710.2(GFPT1):c.224-12C>T
|
rs375455794
|
0.00070
|
NM_004239.4(TRIP11):c.5057-9T>G
|
rs372161255
|
0.00070
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_199242.3(UNC13D):c.1389+12G>A
|
rs199536082
|
0.00070
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_005149.3(TBX19):c.204-3T>C
|
rs200043223
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=)
|
rs142097318
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_001161748.2(LIM2):c.57G>A (p.Leu19=)
|
rs142517355
|
0.00068
|
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
|
rs145675502
|
0.00068
|
NM_002474.3(MYH11):c.1871G>A (p.Arg624His)
|
rs201991156
|
0.00068
|
NM_138959.3(VANGL1):c.*6794C>A
|
rs562835629
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_000037.4(ANK1):c.1404+15C>T
|
rs201598401
|
0.00067
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
NM_000130.5(F5):c.1785G>A (p.Glu595=)
|
rs112333778
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)
|
rs201886728
|
0.00066
|
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)
|
rs142228240
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
NM_000183.3(HADHB):c.900C>T (p.Tyr300=)
|
rs144093705
|
0.00065
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)
|
rs200280538
|
0.00065
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
NM_000037.4(ANK1):c.2196+6G>A
|
rs200761553
|
0.00064
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_012092.4(ICOS):c.375A>G (p.Gly125=)
|
rs768500706
|
0.00064
|
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)
|
rs145562489
|
0.00063
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)
|
rs779791579
|
0.00063
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
NM_000507.4(FBP1):c.334-15T>C
|
rs370920869
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
NM_003849.4(SUCLG1):c.202-4T>C
|
rs141973418
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_199242.3(UNC13D):c.858+12A>C
|
rs191712530
|
0.00063
|
NM_001164688.2(RD3):c.519G>A (p.Val173=)
|
rs139419737
|
0.00062
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)
|
rs146362213
|
0.00061
|
NM_001378120.1(MBD5):c.-831+9dup
|
rs796052705
|
0.00061
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
NM_019892.6(INPP5E):c.813-8C>T
|
rs373176644
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_000312.4(PROC):c.30C>T (p.Phe10=)
|
rs148490199
|
0.00059
|
NM_000733.4(CD3E):c.408G>A (p.Val136=)
|
rs143868906
|
0.00059
|
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
|
rs55640811
|
0.00059
|
NM_004035.7(ACOX1):c.1478+13T>C
|
rs199908120
|
0.00059
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_024589.3(ROGDI):c.567G>A (p.Leu189=)
|
rs143000899
|
0.00059
|
NM_199242.3(UNC13D):c.1174-15C>G
|
rs374069629
|
0.00059
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
NM_001166114.2(PNPLA6):c.3914-11C>T
|
rs371325894
|
0.00058
|
NM_001482.3(GATM):c.*27C>G
|
rs200143728
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=)
|
rs148948607
|
0.00058
|
NM_032601.4(MCEE):c.312T>G (p.Arg104=)
|
rs142838031
|
0.00058
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His)
|
rs139014122
|
0.00057
|
NM_000751.3(CHRND):c.1253-9C>T
|
rs2853458
|
0.00057
|
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)
|
rs202085145
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)
|
rs79832792
|
0.00057
|
NM_001386393.1(PANK2):c.298+15G>C
|
rs566953264
|
0.00057
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000538.4(RFXAP):c.312C>T (p.Ser104=)
|
rs373233313
|
0.00056
|
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=)
|
rs145146059
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
NM_138711.6(PPARG):c.348T>C (p.Ala116=)
|
rs147975759
|
0.00056
|
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=)
|
rs372034111
|
0.00056
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
NM_020297.4(ABCC9):c.2770-13A>G
|
rs184123387
|
0.00055
|
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu)
|
rs201578201
|
0.00054
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668
|
0.00054
|
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=)
|
rs34130975
|
0.00054
|
NM_003465.3(CHIT1):c.1044G>T (p.Lys348Asn)
|
rs140228721
|
0.00054
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_000391.3(TPP1):c.-40T>C
|
rs200184958
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_003465.3(CHIT1):c.513G>T (p.Gln171His)
|
rs12562058
|
0.00053
|
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=)
|
rs147495708
|
0.00053
|
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
|
rs200831987
|
0.00052
|
NM_000186.4(CFH):c.245-15T>C
|
rs200079172
|
0.00052
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)
|
rs143754727
|
0.00052
|
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)
|
rs150716811
|
0.00052
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
NM_000178.4(GSS):c.1203C>T (p.Ile401=)
|
rs138574949
|
0.00051
|
NM_000787.4(DBH):c.1788C>T (p.Cys596=)
|
rs61729385
|
0.00051
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)
|
rs146561732
|
0.00051
|
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr)
|
rs186012808
|
0.00051
|
NM_006623.4(PHGDH):c.834C>A (p.Val278=)
|
rs147866831
|
0.00051
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
NM_199242.3(UNC13D):c.2553+5C>G
|
rs201930023
|
0.00051
|
NM_000484.4(APP):c.1810G>A (p.Val604Met)
|
rs199887707
|
0.00050
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)
|
rs142311664
|
0.00050
|
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln)
|
rs200326353
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys)
|
rs200239095
|
0.00049
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_002529.4(NTRK1):c.1252-15C>G
|
rs186649954
|
0.00049
|
NM_005535.3(IL12RB1):c.1327+9C>A
|
rs185883069
|
0.00049
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_000137.4(FAH):c.81+12G>A
|
rs200319726
|
0.00048
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)
|
rs142199602
|
0.00048
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=)
|
rs199549095
|
0.00048
|
NM_021044.4(DHH):c.228C>T (p.Asp76=)
|
rs201597166
|
0.00048
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
NM_001277115.2(DNAH11):c.13050-12C>T
|
rs187048874
|
0.00047
|
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)
|
rs374033085
|
0.00047
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)
|
rs147854826
|
0.00047
|
NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=)
|
rs202042951
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000274.4(OAT):c.1015-6A>G
|
rs561800688
|
0.00046
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00046
|
NM_000628.5(IL10RB):c.174-14T>G
|
rs200472684
|
0.00046
|
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)
|
rs369153778
|
0.00046
|
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)
|
rs141807661
|
0.00046
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)
|
rs377507553
|
0.00046
|
NM_000484.4(APP):c.663-9C>A
|
rs199587668
|
0.00045
|
NM_001083116.3(PRF1):c.286C>A (p.Arg96=)
|
rs144024245
|
0.00045
|
NM_001358530.2(MOCS1):c.981+12C>T
|
rs377628500
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00044
|
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
|
rs11540674
|
0.00044
|
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)
|
rs147471420
|
0.00044
|
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)
|
rs117659667
|
0.00044
|
NM_032382.5(COG8):c.597C>T (p.Asn199=)
|
rs113642086
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000246.4(CIITA):c.1518G>A (p.Ala506=)
|
rs201215476
|
0.00043
|
NM_000337.5(SGCD):c.-352T>C
|
rs727503419
|
0.00043
|
NM_000538.4(RFXAP):c.666A>G (p.Ala222=)
|
rs139675642
|
0.00043
|
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)
|
rs374351807
|
0.00043
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
NM_002617.4(PEX10):c.627G>A (p.Glu209=)
|
rs141430704
|
0.00043
|
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=)
|
rs377161125
|
0.00043
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)
|
rs137853825
|
0.00043
|
NM_032382.5(COG8):c.1467C>T (p.Ser489=)
|
rs138741747
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_206937.2(LIG4):c.2222G>A (p.Arg741His)
|
rs143767581
|
0.00043
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
NM_001035.3(RYR2):c.463+14G>A
|
rs776302587
|
0.00042
|
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr)
|
rs139107757
|
0.00042
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
NM_000436.4(OXCT1):c.565-13C>T
|
rs370659097
|
0.00041
|
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)
|
rs566641514
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter)
|
rs769917929
|
0.00041
|
NM_020297.4(ABCC9):c.2862C>T (p.Asp954=)
|
rs2291550
|
0.00041
|
NM_024105.4(ALG12):c.1362C>T (p.Val454=)
|
rs12163163
|
0.00041
|
NM_198578.4(LRRK2):c.825T>C (p.His275=)
|
rs72546315
|
0.00041
|
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)
|
rs55637244
|
0.00040
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
NM_000410.4(HFE):c.21G>A (p.Pro7=)
|
rs114758821
|
0.00039
|
NM_001083116.3(PRF1):c.807C>T (p.His269=)
|
rs147453010
|
0.00039
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)
|
rs201704416
|
0.00039
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_006348.5(COG5):c.2271C>T (p.Pro757=)
|
rs145648013
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly)
|
rs145292760
|
0.00039
|
NM_017668.3(NDE1):c.948-6833A>G
|
rs111858392
|
0.00039
|
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=)
|
rs782454483
|
0.00039
|
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)
|
rs142010751
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000081.4(LYST):c.1655T>C (p.Val552Ala)
|
rs199617821
|
0.00038
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
|
rs187710792
|
0.00038
|
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=)
|
rs375882355
|
0.00038
|
NM_000436.4(OXCT1):c.477A>G (p.Thr159=)
|
rs141567487
|
0.00038
|
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)
|
rs201419564
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)
|
rs150466838
|
0.00038
|
NM_005573.3(LMNB1):c.-583G>C
|
rs763586250
|
0.00038
|
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
|
rs149711133
|
0.00038
|
NM_182894.3(VSX2):c.171C>G (p.Ala57=)
|
rs201395979
|
0.00038
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)
|
rs189609282
|
0.00037
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=)
|
rs143899594
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_198904.4(GABRG2):c.*1427C>T
|
rs375013278
|
0.00037
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)
|
rs200310048
|
0.00036
|
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)
|
rs191239995
|
0.00036
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_052859.4(RFT1):c.436C>T (p.His146Tyr)
|
rs201794647
|
0.00036
|
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)
|
rs149436747
|
0.00035
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000246.4(CIITA):c.456G>A (p.Pro152=)
|
rs151317882
|
0.00035
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
|
rs139401187
|
0.00035
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
NM_001164508.2(NEB):c.20466+7G>A
|
rs201684605
|
0.00035
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
NM_003282.4(TNNI2):c.216C>T (p.Ile72=)
|
rs777907501
|
0.00035
|
NM_006348.5(COG5):c.15C>G (p.Gly5=)
|
rs202123650
|
0.00035
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_198904.4(GABRG2):c.*296G>T
|
rs1025917717
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000441.2(SLC26A4):c.1614+7A>G
|
rs199643344
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)
|
rs141030526
|
0.00034
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_001355436.2(SPTB):c.96T>C (p.Asn32=)
|
rs141340359
|
0.00034
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=)
|
rs144530798
|
0.00034
|
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)
|
rs145243354
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=)
|
rs143184345
|
0.00034
|
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)
|
rs185516533
|
0.00033
|
NM_000246.4(CIITA):c.1926C>T (p.Val642=)
|
rs138376967
|
0.00033
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_014000.3(VCL):c.492T>G (p.Leu164=)
|
rs143702799
|
0.00033
|
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)
|
rs143444046
|
0.00033
|
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=)
|
rs138178437
|
0.00033
|
NM_000037.4(ANK1):c.1203C>T (p.Thr401=)
|
rs145628190
|
0.00032
|
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=)
|
rs762382303
|
0.00032
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)
|
rs200427925
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_002693.3(POLG):c.2071-14T>G
|
rs150088708
|
0.00032
|
NM_004320.6(ATP2A1):c.1185-11C>T
|
rs780795453
|
0.00032
|
NM_014714.4(IFT140):c.1360-14G>A
|
rs369246649
|
0.00032
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
NM_153603.4(COG7):c.170-4A>G
|
rs544015151
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
NM_000222.3(KIT):c.67+12C>T
|
rs374618962
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)
|
rs34061568
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)
|
rs35035518
|
0.00031
|
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=)
|
rs138280089
|
0.00031
|
NM_021957.4(GYS2):c.1251C>T (p.Asn417=)
|
rs139882761
|
0.00031
|
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser)
|
rs200707549
|
0.00030
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)
|
rs145143725
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)
|
rs368571200
|
0.00030
|
NM_019040.5(ELP4):c.*1783T>G
|
rs140971065
|
0.00030
|
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=)
|
rs144730861
|
0.00030
|
NM_203447.4(DOCK8):c.828-7A>G
|
rs200243583
|
0.00030
|
NM_000061.3(BTK):c.1909-9T>C
|
rs782702231
|
0.00029
|
NM_000071.3(CBS):c.600G>A (p.Pro200=)
|
rs181472622
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000215.4(JAK3):c.696C>T (p.His232=)
|
rs199902822
|
0.00029
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000787.4(DBH):c.1643A>G (p.Asn548Ser)
|
rs151228388
|
0.00029
|
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)
|
rs145087575
|
0.00029
|
NM_001126108.2(SLC12A3):c.1825+5G>A
|
rs368509876
|
0.00029
|
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=)
|
rs146235874
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)
|
rs137855415
|
0.00029
|
NM_001378964.1(CDON):c.77-11T>C
|
rs200967203
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
0.00029
|
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)
|
rs200465544
|
0.00029
|
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val)
|
rs142647085
|
0.00029
|
NM_003465.3(CHIT1):c.1156+4A>G
|
rs2297947
|
0.00029
|
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
|
rs145825654
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_032581.4(HYCC1):c.972T>G (p.Gly324=)
|
rs200916070
|
0.00029
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
NM_000350.3(ABCA4):c.2744-5C>T
|
rs76305791
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)
|
rs148286708
|
0.00028
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001114753.3(ENG):c.-63C>T
|
rs886063476
|
0.00028
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_002778.4(PSAP):c.-28A>C
|
rs375720661
|
0.00028
|
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)
|
rs142530390
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_024513.4(FYCO1):c.186C>T (p.Thr62=)
|
rs147216026
|
0.00028
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)
|
rs141993646
|
0.00027
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=)
|
rs779365266
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_182894.3(VSX2):c.750G>A (p.Pro250=)
|
rs192712847
|
0.00027
|
NM_000037.4(ANK1):c.675C>T (p.Leu225=)
|
rs146507999
|
0.00026
|
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg)
|
rs202210475
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)
|
rs149507807
|
0.00026
|
NM_000419.5(ITGA2B):c.671-13C>T
|
rs200108644
|
0.00026
|
NM_000507.4(FBP1):c.906C>T (p.Ala302=)
|
rs28369776
|
0.00026
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)
|
rs149565907
|
0.00026
|
NM_001048174.2(MUTYH):c.-6-14T>A
|
rs587781284
|
0.00026
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=)
|
rs574427839
|
0.00026
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)
|
rs199768095
|
0.00026
|
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=)
|
rs140106241
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_022041.4(GAN):c.974-11G>C
|
rs753746307
|
0.00026
|
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser)
|
rs185665930
|
0.00026
|
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)
|
rs199988497
|
0.00026
|
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)
|
rs147191956
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)
|
rs145645897
|
0.00025
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala)
|
rs200278015
|
0.00025
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn)
|
rs149483341
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)
|
rs149174359
|
0.00024
|
NM_001035.3(RYR2):c.-63G>T
|
rs578020342
|
0.00024
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)
|
rs117729990
|
0.00024
|
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)
|
rs199864090
|
0.00024
|
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)
|
rs147525173
|
0.00024
|
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)
|
rs145901607
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile)
|
rs202143851
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_003465.3(CHIT1):c.445G>T (p.Ala149Ser)
|
rs117678693
|
0.00024
|
NM_003664.5(AP3B1):c.1168-9C>T
|
rs367648410
|
0.00024
|
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=)
|
rs138928104
|
0.00024
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_153427.2(PITX2):c.-967C>T
|
rs368647502
|
0.00024
|
NM_182894.3(VSX2):c.579G>A (p.Gln193=)
|
rs182972044
|
0.00024
|
NM_000037.4(ANK1):c.2097+15C>T
|
rs200206750
|
0.00023
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000159.4(GCDH):c.738G>A (p.Ser246=)
|
rs188548539
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000325.6(PITX2):c.619A>G (p.Met207Val)
|
rs138163892
|
0.00023
|
NM_000360.4(TH):c.1368C>T (p.Ser456=)
|
rs45538536
|
0.00023
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)
|
rs201084372
|
0.00023
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)
|
rs148901752
|
0.00023
|
NM_198904.4(GABRG2):c.922+6A>G
|
rs375294947
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000073.3(CD3G):c.496C>A (p.Arg166=)
|
rs201529449
|
0.00022
|
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)
|
rs116657359
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
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_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
NM_001384474.1(LOXHD1):c.1970+9G>A
|
rs532438706
|
0.00022
|
NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr)
|
rs201544295
|
0.00022
|
NM_001845.6(COL4A1):c.553-8C>T
|
rs199534388
|
0.00022
|
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=)
|
rs199590656
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_022356.4(P3H1):c.1428C>T (p.Gly476=)
|
rs141786883
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys)
|
rs201548032
|
0.00022
|
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His)
|
rs199794968
|
0.00022
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)
|
rs201434579
|
0.00021
|
NM_000553.6(WRN):c.3820-12A>G
|
rs374684032
|
0.00021
|
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=)
|
rs144353639
|
0.00021
|
NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp)
|
rs183489539
|
0.00021
|
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser)
|
rs201501951
|
0.00021
|
NM_001395413.1(POR):c.735C>T (p.Tyr245=)
|
rs201786397
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)
|
rs199634245
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_006343.3(MERTK):c.2079+10del
|
rs529766238
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)
|
rs199727517
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)
|
rs368912483
|
0.00020
|
NM_001166114.2(PNPLA6):c.4024-13C>T
|
rs78093267
|
0.00020
|
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys)
|
rs145651189
|
0.00020
|
NM_002474.3(MYH11):c.1034-12T>G
|
rs184847335
|
0.00020
|
NM_002863.5(PYGL):c.691G>A (p.Val231Met)
|
rs148378112
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_005535.3(IL12RB1):c.824C>T (p.Ala275Val)
|
rs201831465
|
0.00020
|
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)
|
rs201486613
|
0.00020
|
NM_032581.4(HYCC1):c.831+10T>C
|
rs199912375
|
0.00020
|
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=)
|
rs147735490
|
0.00020
|
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)
|
rs139564938
|
0.00020
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=)
|
rs61737080
|
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_000306.4(POU1F1):c.666-6C>T
|
rs201995103
|
0.00019
|
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu)
|
rs119103276
|
0.00019
|
NM_000506.5(F2):c.798C>T (p.Asp266=)
|
rs138260543
|
0.00019
|
NM_000628.5(IL10RB):c.645C>T (p.Asp215=)
|
rs148468217
|
0.00019
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn)
|
rs567309902
|
0.00019
|
NM_001134363.3(RBM20):c.3633G>A (p.Pro1211=)
|
rs781373863
|
0.00019
|
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)
|
rs199903114
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)
|
rs201863754
|
0.00019
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
NM_003465.3(CHIT1):c.56-6G>A
|
rs190551025
|
0.00019
|
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe)
|
rs200739251
|
0.00019
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_014908.4(DOLK):c.1437T>C (p.Ser479=)
|
rs574290806
|
0.00019
|
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)
|
rs141868759
|
0.00019
|
NM_017668.3(NDE1):c.948-5740C>T
|
rs373378619
|
0.00019
|
NM_024079.5(ALG8):c.154A>G (p.Ile52Val)
|
rs138293432
|
0.00019
|
NM_031433.4(MFRP):c.192C>G (p.Arg64=)
|
rs200143181
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_032409.3(PINK1):c.858G>A (p.Pro286=)
|
rs148144773
|
0.00019
|
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)
|
rs151319255
|
0.00019
|
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)
|
rs201113602
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000465.4(BARD1):c.2082C>T (p.Leu694=)
|
rs139620052
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His)
|
rs149596493
|
0.00018
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
NM_001166114.2(PNPLA6):c.714+6T>G
|
rs368637145
|
0.00018
|
NM_001943.5(DSG2):c.2334+9G>A
|
rs776516070
|
0.00018
|
NM_006892.4(DNMT3B):c.307-15C>G
|
rs150718732
|
0.00018
|
NM_014000.3(VCL):c.81C>T (p.His27=)
|
rs200733607
|
0.00018
|
NM_198904.4(GABRG2):c.107+12C>T
|
rs369466385
|
0.00018
|
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=)
|
rs749951528
|
0.00018
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000081.4(LYST):c.2700A>G (p.Leu900=)
|
rs111463684
|
0.00017
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
NM_001032386.2(SUOX):c.51-14G>A
|
rs141432255
|
0.00017
|
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)
|
rs200555425
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_007294.3(BRCA1):c.-125C>T
|
rs148196794
|
0.00017
|
NM_014908.4(DOLK):c.579G>A (p.Glu193=)
|
rs28365522
|
0.00017
|
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln)
|
rs145507832
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
NM_000017.4(ACADS):c.465C>T (p.Ser155=)
|
rs141492002
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
NM_000441.2(SLC26A4):c.1804-6G>A
|
rs377713770
|
0.00016
|
NM_000515.5(GH1):c.456+12G>A
|
rs61762498
|
0.00016
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys)
|
rs202044707
|
0.00016
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His)
|
rs372603233
|
0.00016
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)
|
rs117803903
|
0.00016
|
NM_001457.4(FLNB):c.1868A>T (p.Asp623Val)
|
rs145314043
|
0.00016
|
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)
|
rs148648480
|
0.00016
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_005518.4(HMGCS2):c.851-14G>A
|
rs188523700
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
NM_014000.3(VCL):c.1716T>G (p.Leu572=)
|
rs189781480
|
0.00016
|
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=)
|
rs139249329
|
0.00016
|
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=)
|
rs370135619
|
0.00016
|
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg)
|
rs186429469
|
0.00016
|
NM_018475.5(TMEM165):c.351A>G (p.Ala117=)
|
rs747450377
|
0.00016
|
NM_052989.3(IFT122):c.1009-14C>T
|
rs202155515
|
0.00016
|
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)
|
rs150376603
|
0.00016
|
NM_153741.2(DPM3):c.249C>A (p.Ala83=)
|
rs193215070
|
0.00016
|
NM_178170.3(NEK8):c.582C>T (p.Tyr194=)
|
rs201773965
|
0.00016
|
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)
|
rs141957829
|
0.00016
|
NM_182894.3(VSX2):c.249G>A (p.Gly83=)
|
rs751526974
|
0.00016
|
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly)
|
rs35328937
|
0.00016
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)
|
rs756897517
|
0.00015
|
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)
|
rs199584268
|
0.00015
|
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=)
|
rs767028461
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001698.3(AUH):c.678C>T (p.Arg226=)
|
rs143768042
|
0.00015
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_005546.4(ITK):c.495+12C>T
|
rs376728021
|
0.00015
|
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)
|
rs200617745
|
0.00015
|
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)
|
rs200202916
|
0.00015
|
NM_022356.4(P3H1):c.1721-4C>T
|
rs200901466
|
0.00015
|
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=)
|
rs200253126
|
0.00015
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)
|
rs144735718
|
0.00014
|
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)
|
rs2228239
|
0.00014
|
NM_000321.3(RB1):c.-69G>C
|
rs753117180
|
0.00014
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)
|
rs771306571
|
0.00014
|
NM_001083116.3(PRF1):c.630C>T (p.Pro210=)
|
rs144004164
|
0.00014
|
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser)
|
rs373039171
|
0.00014
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)
|
rs202211102
|
0.00014
|
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)
|
rs35194393
|
0.00014
|
NM_001457.4(FLNB):c.1290C>G (p.Ile430Met)
|
rs147854989
|
0.00014
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
NM_002693.3(POLG):c.2157+11C>T
|
rs56411159
|
0.00014
|
NM_003465.3(CHIT1):c.1139C>T (p.Thr380Met)
|
rs374021722
|
0.00014
|
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)
|
rs774049893
|
0.00014
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)
|
rs147097934
|
0.00014
|
NM_022124.6(CDH23):c.7362+14G>A
|
rs78158757
|
0.00014
|
NM_024513.4(FYCO1):c.546G>A (p.Thr182=)
|
rs201372127
|
0.00014
|
NM_024513.4(FYCO1):c.678C>T (p.Asn226=)
|
rs140730556
|
0.00014
|
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=)
|
rs145579121
|
0.00014
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
NM_053025.4(MYLK):c.207C>T (p.Asn69=)
|
rs376457425
|
0.00014
|
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)
|
rs200660337
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)
|
rs151193009
|
0.00014
|
NM_198904.4(GABRG2):c.243T>A (p.Leu81=)
|
rs143295869
|
0.00014
|
NM_000053.4(ATP7B):c.813C>T (p.Cys271=)
|
rs572147914
|
0.00013
|
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
|
rs201255245
|
0.00013
|
NM_000091.5(COL4A3):c.688-8G>T
|
rs748843785
|
0.00013
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000687.4(AHCY):c.918C>T (p.Ile306=)
|
rs146829385
|
0.00013
|
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)
|
rs374203339
|
0.00013
|
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu)
|
rs373133009
|
0.00013
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)
|
rs140066253
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
NM_022367.4(SEMA4A):c.1694-13C>G
|
rs144540956
|
0.00013
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val)
|
rs2697798
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000081.4(LYST):c.2517T>C (p.Ile839=)
|
rs78172154
|
0.00012
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000246.4(CIITA):c.772+8C>T
|
rs557455283
|
0.00012
|
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)
|
rs199941695
|
0.00012
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_001113525.2(ZNF276):c.*471G>C
|
rs368506826
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_004035.7(ACOX1):c.1584+11G>A
|
rs185329691
|
0.00012
|
NM_004239.4(TRIP11):c.183T>C (p.His61=)
|
rs138904373
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_012092.4(ICOS):c.591G>A (p.Val197=)
|
rs55655222
|
0.00012
|
NM_014000.3(VCL):c.378C>T (p.Phe126=)
|
rs148966602
|
0.00012
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
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_153427.3(PITX2):c.-79G>A
|
rs535056127
|
0.00012
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000096.4(CP):c.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
NM_000098.3(CPT2):c.45G>T (p.Ala15=)
|
rs761850684
|
0.00011
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=)
|
rs3748278
|
0.00011
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser)
|
rs377071831
|
0.00011
|
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)
|
rs371609233
|
0.00011
|
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln)
|
rs143785916
|
0.00011
|
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)
|
rs200585609
|
0.00011
|
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)
|
rs201529683
|
0.00011
|
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn)
|
rs201337732
|
0.00011
|
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)
|
rs373551215
|
0.00011
|
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=)
|
rs761103593
|
0.00011
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val)
|
rs373365959
|
0.00011
|
NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp)
|
rs143827332
|
0.00011
|
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu)
|
rs201254275
|
0.00011
|
NM_001558.4(IL10RA):c.931T>C (p.Leu311=)
|
rs148808529
|
0.00011
|
NM_001953.5(TYMP):c.*10G>A
|
rs369012029
|
0.00011
|
NM_001953.5(TYMP):c.*3C>T
|
rs372620403
|
0.00011
|
NM_002474.3(MYH11):c.4095C>T (p.His1365=)
|
rs374454281
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
NM_003465.3(CHIT1):c.1326G>A (p.Ala442=)
|
rs186594769
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_006757.4(TNNT3):c.429G>A (p.Lys143=)
|
rs184687090
|
0.00011
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_006949.4(STXBP2):c.1356+13C>T
|
rs544312114
|
0.00011
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
NM_017636.4(TRPM4):c.2954-11T>C
|
rs774806552
|
0.00011
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
NM_018714.3(COG1):c.2619+11T>A
|
rs144115463
|
0.00011
|
NM_024105.4(ALG12):c.189C>T (p.Val63=)
|
rs190345740
|
0.00011
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=)
|
rs373452460
|
0.00010
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001042492.3(NF1):c.2178G>C (p.Val726=)
|
rs369590240
|
0.00010
|
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys)
|
rs374390581
|
0.00010
|
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)
|
rs773239926
|
0.00010
|
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg)
|
rs200295318
|
0.00010
|
NM_001457.4(FLNB):c.2035C>T (p.Pro679Ser)
|
rs144158201
|
0.00010
|
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
|
rs529836556
|
0.00010
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_003465.3(CHIT1):c.1265G>A (p.Gly422Asp)
|
rs144422918
|
0.00010
|
NM_003465.3(CHIT1):c.400G>A (p.Gly134Ser)
|
rs374580719
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
NM_182894.3(VSX2):c.564G>A (p.Pro188=)
|
rs201354547
|
0.00010
|
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)
|
rs566325901
|
0.00009
|
NM_000037.4(ANK1):c.483G>A (p.Ala161=)
|
rs200639644
|
0.00009
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)
|
rs201140493
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000141.5(FGFR2):c.33C>T (p.Val11=)
|
rs200562301
|
0.00009
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000751.3(CHRND):c.525G>A (p.Thr175=)
|
rs56203086
|
0.00009
|
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=)
|
rs201477760
|
0.00009
|
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)
|
rs78420579
|
0.00009
|
NM_001204398.1(PITX2):c.-11+12T>C
|
rs140614517
|
0.00009
|
NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg)
|
rs763155183
|
0.00009
|
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)
|
rs139902197
|
0.00009
|
NM_001457.4(FLNB):c.7003G>A (p.Val2335Met)
|
rs147537617
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_002778.4(PSAP):c.577-10T>C
|
rs185892516
|
0.00009
|
NM_003227.4(TFR2):c.2367G>A (p.Ala789=)
|
rs374766778
|
0.00009
|
NM_003465.3(CHIT1):c.984C>T (p.Asp328=)
|
rs2275533
|
0.00009
|
NM_003664.5(AP3B1):c.537-9A>G
|
rs372285421
|
0.00009
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
NM_005677.4(COLQ):c.814+11C>T
|
rs575840341
|
0.00009
|
NM_006348.5(COG5):c.795C>T (p.Asp265=)
|
rs372226278
|
0.00009
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)
|
rs769397647
|
0.00009
|
NM_007374.3(SIX6):c.651C>T (p.Gly217=)
|
rs368912930
|
0.00009
|
NM_014000.3(VCL):c.1290C>T (p.Asp430=)
|
rs576271894
|
0.00009
|
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)
|
rs60284677
|
0.00009
|
NM_021615.5(CHST6):c.15C>T (p.Arg5=)
|
rs762744897
|
0.00009
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)
|
rs146778076
|
0.00009
|
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)
|
rs200524049
|
0.00009
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)
|
rs202198207
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000264.5(PTCH1):c.801G>A (p.Glu267=)
|
rs374155092
|
0.00008
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
NM_000732.6(CD3D):c.510C>T (p.Asn170=)
|
rs146997233
|
0.00008
|
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)
|
rs377369610
|
0.00008
|
NM_001130987.2(DYSF):c.4464+7T>C
|
rs369949055
|
0.00008
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr)
|
rs747087320
|
0.00008
|
NM_002693.3(POLG):c.2157+15G>A
|
rs766521182
|
0.00008
|
NM_004239.4(TRIP11):c.492T>C (p.Phe164=)
|
rs367632896
|
0.00008
|
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)
|
rs376186141
|
0.00008
|
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=)
|
rs3761169
|
0.00008
|
NM_017668.3(NDE1):c.948-4052A>G
|
rs201595239
|
0.00008
|
NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=)
|
rs377644356
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000038.6(APC):c.934-14C>T
|
rs778707022
|
0.00007
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
NM_000061.3(BTK):c.1977C>T (p.Ser659=)
|
rs782047787
|
0.00007
|
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)
|
rs374093236
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
NM_000419.5(ITGA2B):c.1439+8C>T
|
rs371050454
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000787.4(DBH):c.1173G>A (p.Thr391=)
|
rs201689325
|
0.00007
|
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)
|
rs200468391
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001558.4(IL10RA):c.336C>T (p.Thr112=)
|
rs192749274
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_002474.3(MYH11):c.1056G>A (p.Ser352=)
|
rs201256839
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_014714.4(IFT140):c.1653-14C>T
|
rs148433720
|
0.00007
|
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu)
|
rs771654748
|
0.00007
|
NM_053025.4(MYLK):c.601C>T (p.Leu201=)
|
rs773082759
|
0.00007
|
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=)
|
rs186340144
|
0.00007
|
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)
|
rs200856421
|
0.00007
|
NM_198904.4(GABRG2):c.135C>T (p.Asp45=)
|
rs375308385
|
0.00007
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
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_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
|
rs371053403
|
0.00006
|
NM_000186.4(CFH):c.2196G>A (p.Thr732=)
|
rs144325643
|
0.00006
|
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)
|
rs139799938
|
0.00006
|
NM_000207.3(INS):c.*42C>T
|
rs376867722
|
0.00006
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
NM_000350.3(ABCA4):c.3523-9C>G
|
rs374302531
|
0.00006
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)
|
rs538803955
|
0.00006
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000733.4(CD3E):c.441G>A (p.Leu147=)
|
rs528492194
|
0.00006
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
NM_001042492.3(NF1):c.7870-8C>A
|
rs372441422
|
0.00006
|
NM_001082971.2(DDC):c.135T>C (p.Ala45=)
|
rs11575291
|
0.00006
|
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala)
|
rs755775428
|
0.00006
|
NM_001114753.3(ENG):c.1695T>C (p.His565=)
|
rs750637713
|
0.00006
|
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)
|
rs377706756
|
0.00006
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00006
|
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=)
|
rs577894144
|
0.00006
|
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)
|
rs35770729
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=)
|
rs558369303
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly)
|
rs773498002
|
0.00006
|
NM_001277115.2(DNAH11):c.7292G>T (p.Ser2431Ile)
|
rs185039462
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001395413.1(POR):c.991G>A (p.Val331Ile)
|
rs562241770
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_002076.4(GNS):c.876-13T>C
|
rs543570530
|
0.00006
|
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu)
|
rs142860588
|
0.00006
|
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=)
|
rs186771094
|
0.00006
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
|
rs17721570
|
0.00006
|
NM_003283.6(TNNT1):c.791+12C>T
|
rs201143291
|
0.00006
|
NM_003465.3(CHIT1):c.382C>T (p.Arg128Cys)
|
rs377403883
|
0.00006
|
NM_004132.5(HABP2):c.177T>A (p.Leu59=)
|
rs187029293
|
0.00006
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
0.00006
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)
|
rs201489069
|
0.00006
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=)
|
rs374912181
|
0.00006
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
NM_015627.3(LDLRAP1):c.747+13G>A
|
rs202247605
|
0.00006
|
NM_017668.3(NDE1):c.948-9103C>T
|
rs202120792
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
0.00006
|
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)
|
rs535704197
|
0.00006
|
NM_024105.4(ALG12):c.469+14G>A
|
rs76905919
|
0.00006
|
NM_024105.4(ALG12):c.639C>T (p.Ala213=)
|
rs140835842
|
0.00006
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)
|
rs577104686
|
0.00006
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
|
rs201091083
|
0.00006
|
NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=)
|
rs187677159
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)
|
rs149255570
|
0.00006
|
NM_194318.4(B3GLCT):c.71-9T>C
|
rs569540121
|
0.00006
|
NM_198525.3(KIF7):c.530-7C>T
|
rs202043641
|
0.00006
|
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=)
|
rs113085352
|
0.00006
|
NM_000026.4(ADSL):c.1200T>C (p.His400=)
|
rs751401941
|
0.00005
|
NM_000048.4(ASL):c.1263G>A (p.Ser421=)
|
rs542163407
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)
|
rs146306707
|
0.00005
|
NM_000246.4(CIITA):c.3063-12G>T
|
rs559875711
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
NM_000321.3(RB1):c.2003G>A (p.Arg668His)
|
rs551747882
|
0.00005
|
NM_000350.3(ABCA4):c.4848+13T>C
|
rs374196141
|
0.00005
|
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)
|
rs184492796
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
NM_001164508.2(NEB):c.11182-8T>A
|
rs183088493
|
0.00005
|
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val)
|
rs747337656
|
0.00005
|
NM_001244710.2(GFPT1):c.224-10T>C
|
rs777508704
|
0.00005
|
NM_001256545.2(MEGF10):c.522G>A (p.Arg174=)
|
rs201076330
|
0.00005
|
NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu)
|
rs780579730
|
0.00005
|
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)
|
rs367670668
|
0.00005
|
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=)
|
rs563089155
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_002693.3(POLG):c.1311C>T (p.Val437=)
|
rs62640035
|
0.00005
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)
|
rs142551371
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_017636.4(TRPM4):c.2712G>T (p.Val904=)
|
rs143447932
|
0.00005
|
NM_017636.4(TRPM4):c.657C>T (p.Asp219=)
|
rs373953725
|
0.00005
|
NM_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
0.00005
|
NM_020297.4(ABCC9):c.1374C>T (p.Val458=)
|
rs200819464
|
0.00005
|
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)
|
rs371482940
|
0.00005
|
NM_030787.4(CFHR5):c.1641G>A (p.Ala547=)
|
rs74323799
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
NM_139343.3(BIN1):c.1131+9C>T
|
rs138606879
|
0.00005
|
NM_152263.4(TPM3):c.327T>G (p.Thr109=)
|
rs764255899
|
0.00005
|
NM_000017.4(ACADS):c.663G>T (p.Gly221=)
|
rs751023929
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000096.4(CP):c.2662-14T>C
|
rs189155564
|
0.00004
|
NM_000186.4(CFH):c.1736T>C (p.Val579Ala)
|
rs201411537
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
NM_000321.3(RB1):c.462G>A (p.Lys154=)
|
rs369830657
|
0.00004
|
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=)
|
rs548431469
|
0.00004
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
NM_000527.5(LDLR):c.817+14A>G
|
rs201875602
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000751.3(CHRND):c.1252+10C>T
|
rs373581541
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=)
|
rs764724825
|
0.00004
|
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=)
|
rs565238806
|
0.00004
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=)
|
rs554366790
|
0.00004
|
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val)
|
rs761829162
|
0.00004
|
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)
|
rs201291446
|
0.00004
|
NM_001199397.3(NEK1):c.2587+14G>T
|
rs368032168
|
0.00004
|
NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=)
|
rs528654275
|
0.00004
|
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met)
|
rs751059559
|
0.00004
|
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)
|
rs745305844
|
0.00004
|
NM_001277115.2(DNAH11):c.4944+6del
|
rs531049764
|
0.00004
|
NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=)
|
rs372802443
|
0.00004
|
NM_001277115.2(DNAH11):c.5702A>C (p.Glu1901Ala)
|
rs750672801
|
0.00004
|
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met)
|
rs375341444
|
0.00004
|
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)
|
rs769695221
|
0.00004
|
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)
|
rs375478086
|
0.00004
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)
|
rs537930129
|
0.00004
|
NM_003850.3(SUCLA2):c.1074A>C (p.Thr358=)
|
rs746516356
|
0.00004
|
NM_003982.4(SLC7A7):c.1246-12C>T
|
rs573454071
|
0.00004
|
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=)
|
rs199557273
|
0.00004
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)
|
rs367759638
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
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_014714.4(IFT140):c.3558G>A (p.Glu1186=)
|
rs368713443
|
0.00004
|
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=)
|
rs376913055
|
0.00004
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
NM_018418.5(SPATA7):c.913-14T>A
|
rs185459765
|
0.00004
|
NM_018451.5(CENPJ):c.865+12dup
|
rs202014808
|
0.00004
|
NM_053025.4(MYLK):c.2124C>T (p.Ala708=)
|
rs372939794
|
0.00004
|
NM_053025.4(MYLK):c.2733G>A (p.Ser911=)
|
rs200117191
|
0.00004
|
NM_053025.4(MYLK):c.993G>A (p.Thr331=)
|
rs55932343
|
0.00004
|
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)
|
rs150837768
|
0.00004
|
NM_152263.4(TPM3):c.495+7G>C
|
rs749792884
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
NM_199242.3(UNC13D):c.2554-13A>G
|
rs533490795
|
0.00004
|
NM_199242.3(UNC13D):c.569+10C>T
|
rs368069154
|
0.00004
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000159.4(GCDH):c.38G>A (p.Arg13His)
|
rs550100640
|
0.00003
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000186.4(CFH):c.770G>A (p.Arg257His)
|
rs140107330
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)
|
rs202121327
|
0.00003
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile)
|
rs17847568
|
0.00003
|
NM_000601.6(HGF):c.1765G>A (p.Val589Ile)
|
rs538415452
|
0.00003
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=)
|
rs749556191
|
0.00003
|
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=)
|
rs543961404
|
0.00003
|
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val)
|
rs201940342
|
0.00003
|
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val)
|
rs779481792
|
0.00003
|
NM_001166114.2(PNPLA6):c.232+14G>A
|
rs199727584
|
0.00003
|
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile)
|
rs766901693
|
0.00003
|
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)
|
rs201481698
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)
|
rs778382364
|
0.00003
|
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)
|
rs769021800
|
0.00003
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
NM_002778.4(PSAP):c.*9A>G
|
rs376628499
|
0.00003
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_003465.3(CHIT1):c.1099G>A (p.Gly367Ser)
|
rs752379824
|
0.00003
|
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=)
|
rs374533122
|
0.00003
|
NM_004304.5(ALK):c.4425C>T (p.His1475=)
|
rs139039449
|
0.00003
|
NM_005787.6(ALG3):c.51A>G (p.Ala17=)
|
rs763727038
|
0.00003
|
NM_007315.4(STAT1):c.1713T>G (p.Pro571=)
|
rs772114461
|
0.00003
|
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=)
|
rs2287626
|
0.00003
|
NM_031433.4(MFRP):c.807G>A (p.Gln269=)
|
rs371537663
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_206937.2(LIG4):c.2499T>C (p.Asn833=)
|
rs769297575
|
0.00003
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
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_000186.4(CFH):c.16A>G (p.Lys6Glu)
|
rs749875053
|
0.00002
|
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
|
rs752302466
|
0.00002
|
NM_000211.5(ITGB2):c.742-5C>G
|
rs542698586
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000264.5(PTCH1):c.1215+14C>T
|
rs367857273
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)
|
rs573418899
|
0.00002
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp)
|
rs561904743
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=)
|
rs373930042
|
0.00002
|
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met)
|
rs375595192
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
NM_001558.4(IL10RA):c.72A>C (p.Thr24=)
|
rs560128585
|
0.00002
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
0.00002
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
0.00002
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
NM_002076.4(GNS):c.285A>G (p.Arg95=)
|
rs545765198
|
0.00002
|
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
|
rs13306415
|
0.00002
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
NM_006415.4(SPTLC1):c.58-9C>T
|
rs769188151
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_014249.4(NR2E3):c.264G>T (p.Gly88=)
|
rs558123422
|
0.00002
|
NM_015192.4(PLCB1):c.2308+14G>C
|
rs768572485
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_019040.5(ELP4):c.*1714C>G
|
rs180780893
|
0.00002
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
NM_000037.4(ANK1):c.237C>T (p.Asn79=)
|
rs372696694
|
0.00001
|
NM_000038.6(APC):c.2958T>C (p.Tyr986=)
|
rs746581330
|
0.00001
|
NM_000038.6(APC):c.8298C>T (p.Ser2766=)
|
rs876658523
|
0.00001
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
|
rs534622837
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)
|
rs776655838
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn)
|
rs545808060
|
0.00001
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
|
rs149938052
|
0.00001
|
NM_000186.4(CFH):c.879G>A (p.Gln293=)
|
rs769615121
|
0.00001
|
NM_000198.4(HSD3B2):c.308-9C>T
|
rs375047799
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)
|
rs756638660
|
0.00001
|
NM_000293.3(PHKB):c.595-5T>G
|
rs369184808
|
0.00001
|
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)
|
rs1470523018
|
0.00001
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)
|
rs557047531
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)
|
rs529177486
|
0.00001
|
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)
|
rs762905211
|
0.00001
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys)
|
rs760965671
|
0.00001
|
NM_001083116.3(PRF1):c.111C>T (p.Phe37=)
|
rs547321451
|
0.00001
|
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)
|
rs571559303
|
0.00001
|
NM_001130987.2(DYSF):c.3898-4C>G
|
rs555206040
|
0.00001
|
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)
|
rs577921112
|
0.00001
|
NM_001134363.3(RBM20):c.788A>G (p.Tyr263Cys)
|
rs886046701
|
0.00001
|
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=)
|
rs547109690
|
0.00001
|
NM_001277115.2(DNAH11):c.3497A>C (p.His1166Pro)
|
rs575476197
|
0.00001
|
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)
|
rs564202359
|
0.00001
|
NM_001277115.2(DNAH11):c.684A>G (p.Ser228=)
|
rs886062171
|
0.00001
|
NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=)
|
rs745494770
|
0.00001
|
NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln)
|
rs372633683
|
0.00001
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756
|
0.00001
|
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)
|
rs769095184
|
0.00001
|
NM_001377.3(DYNC2H1):c.5335-14A>G
|
rs372488002
|
0.00001
|
NM_001377.3(DYNC2H1):c.8946+10A>C
|
rs550521675
|
0.00001
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg)
|
rs750386918
|
0.00001
|
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)
|
rs747507457
|
0.00001
|
NM_002693.3(POLG):c.2040G>A (p.Leu680=)
|
rs367740265
|
0.00001
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
NM_003119.4(SPG7):c.1664-11C>A
|
rs574656941
|
0.00001
|
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile)
|
rs150618729
|
0.00001
|
NM_003465.3(CHIT1):c.365C>T (p.Ser122Leu)
|
rs757305430
|
0.00001
|
NM_003865.3(HESX1):c.183T>C (p.His61=)
|
rs374187836
|
0.00001
|
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)
|
rs748790273
|
0.00001
|
NM_004415.4(DSP):c.7767A>G (p.Ser2589=)
|
rs755928079
|
0.00001
|
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)
|
rs755508926
|
0.00001
|
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=)
|
rs200675569
|
0.00001
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
NM_007294.4(BRCA1):c.997A>G (p.Thr333Ala)
|
rs786201634
|
0.00001
|
NM_014297.5(ETHE1):c.-47C>T
|
rs368890798
|
0.00001
|
NM_015192.4(PLCB1):c.288G>T (p.Gly96=)
|
rs200521017
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_021957.4(GYS2):c.942-7del
|
rs537907545
|
0.00001
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
NM_022367.4(SEMA4A):c.492C>T (p.Ile164=)
|
rs562037528
|
0.00001
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)
|
rs781000475
|
0.00001
|
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val)
|
rs542258150
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
NM_052813.5(CARD9):c.808-8C>T
|
rs542391727
|
0.00001
|
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=)
|
rs563569935
|
0.00001
|
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr)
|
rs750822014
|
0.00001
|
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)
|
rs370701337
|
0.00001
|
NM_174936.4(PCSK9):c.1560C>T (p.Val520=)
|
rs542863545
|
0.00001
|
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val)
|
rs886058521
|
0.00001
|
NM_000017.4(ACADS):c.516C>T (p.Ala172=)
|
rs531683812
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000021.4(PSEN1):c.*1867ACAG[1]
|
rs563773430
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000027.4(AGA):c.806+13_806+16del
|
rs369977700
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
NM_000036.3(AMPD1):c.382-6del
|
rs727503806
|
|
NM_000036.3(AMPD1):c.382-6dup
|
rs727503806
|
|
NM_000037.4(ANK1):c.3115+9G>A
|
rs150850103
|
|
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)
|
rs149859024
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
NM_000043.6(FAS):c.444-5del
|
rs751798922
|
|
NM_000045.4(ARG1):c.75A>G (p.Glu25=)
|
rs755973004
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000061.3(BTK):c.520+15C>T
|
rs782697907
|
|
NM_000079.4(CHRNA1):c.779-12del
|
rs67309103
|
|
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)
|
rs570378547
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1348-4dup
|
rs758567906
|
|
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His)
|
rs748471791
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)
|
rs575766548
|
|
NM_000130.5(F5):c.5419+11C>G
|
rs6008
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)
|
rs764959117
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
|
rs200644359
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000207.3(INS):c.-18+3C>G
|
rs886048112
|
|
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln)
|
rs13306487
|
|
NM_000214.3(JAG1):c.-386dup
|
rs886056519
|
|
NM_000222.3(KIT):c.252G>A (p.Thr84=)
|
rs56411694
|
|
NM_000237.3(LPL):c.290C>T (p.Ala97Val)
|
rs201946950
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000246.4(CIITA):c.2816+14C>T
|
rs191941806
|
|
NM_000246.4(CIITA):c.3062+14G>A
|
rs370557976
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
NM_000254.3(MTR):c.*16del
|
rs67705775
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala)
|
rs774712511
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC
|
rs199713263
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3755-16TC[5]
|
rs760529810
|
|
NM_000274.4(OAT):c.521-15_521-12del
|
rs376636397
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000283.4(PDE6B):c.*153dup
|
rs374413250
|
|
NM_000302.4(PLOD1):c.577A>C (p.Arg193=)
|
rs569590633
|
|
NM_000303.3(PMM2):c.93C>T (p.Phe31=)
|
rs61730638
|
|
NM_000308.4(CTSA):c.195-7dup
|
rs780400265
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)
|
rs367578442
|
|
NM_000321.3(RB1):c.397A>C (p.Asn133His)
|
rs3092900
|
|
NM_000322.5(PRPH2):c.*483_*484dup
|
rs55851577
|
|
NM_000325.6(PITX2):c.*340A>G
|
rs551209662
|
|
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)
|
rs201628949
|
|
NM_000337.6(SGCD):c.*4340_*4341dup
|
rs556887176
|
|
NM_000345.4(SNCA):c.*575ATTTT[1]
|
rs756360541
|
|
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup)
|
rs776337541
|
|
NM_000350.3(ABCA4):c.1356+6_1356+7insC
|
rs886046568
|
|
NM_000350.3(ABCA4):c.3051-15G>T
|
rs200223777
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)
|
rs148091207
|
|
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
|
rs374811709
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000355.4(TCN2):c.810G>A (p.Ala270=)
|
rs61748898
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000406.3(GNRHR):c.523-15del
|
rs569763619
|
|
NM_000419.5(ITGA2B):c.891+12del
|
rs373578804
|
|
NM_000433.4(NCF2):c.918G>A (p.Gln306=)
|
rs535561432
|
|
NM_000436.4(OXCT1):c.79-11del
|
rs748715820
|
|
NM_000436.4(OXCT1):c.79-22dup
|
rs748715820
|
|
NM_000455.5(STK11):c.-107dup
|
rs927999961
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000501.4(ELN):c.1096+12TG[18]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[20]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[21]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[22]
|
rs10579871
|
|
NM_000507.4(FBP1):c.826-15G>A
|
rs148942437
|
|
NM_000512.5(GALNS):c.633+13G>C
|
rs200292757
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>T
|
rs372848519
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
NM_000553.6(WRN):c.16T>C (p.Leu6=)
|
rs202148988
|
|
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val)
|
rs545431480
|
|
NM_000642.3(AGL):c.4348-3dup
|
rs886044921
|
|
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)
|
rs545298641
|
|
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp)
|
rs150841255
|
|
NM_000821.7(GGCX):c.2084+12del
|
rs377186328
|
|
NM_000875.5(IGF1R):c.*2426del
|
rs398028512
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001022.4(RPS19):c.71+12del
|
rs886054470
|
|
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=)
|
rs144469629
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)
|
rs869025511
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
NM_001040142.2(SCN2A):c.-51-1735del
|
rs67417831
|
|
NM_001040142.2(SCN2A):c.-51-1736_-51-1735del
|
rs67417831
|
|
NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup
|
rs67417831
|
|
NM_001040436.3(YARS2):c.1104-16dup
|
rs761612441
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly)
|
rs17304212
|
|
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys)
|
rs17304212
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001079802.2(FKTN):c.-90del
|
rs727502845
|
|
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala)
|
rs535296791
|
|
NM_001083116.3(PRF1):c.519G>C (p.Thr173=)
|
rs112883709
|
|
NM_001083961.2(WDR62):c.1233+15del
|
rs373693641
|
|
NM_001083961.2(WDR62):c.1233+15dup
|
rs373693641
|
|
NM_001083961.2(WDR62):c.269+12del
|
rs797046108
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_001101426.4(CRPPA):c.836-19dup
|
rs3839757
|
|
NM_001103.4(ACTN2):c.-98CGCCGCC[4]
|
rs552471202
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
NM_001113491.2(SEPTIN9):c.76+13013GAG[6]
|
rs372287642
|
|
NM_001114753.3(ENG):c.1429-9_1429-6dup
|
rs762494923
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001127671.2(LIFR):c.143-37GT[11]
|
rs10637374
|
|
NM_001127671.2(LIFR):c.143-37GT[12]
|
rs10637374
|
|
NM_001127671.2(LIFR):c.143-37GT[13]
|
rs10637374
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.1985-15G>T
|
rs146407633
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001142800.2(EYS):c.1460-5dup
|
rs771064426
|
|
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)
|
rs536788112
|
|
NM_001160372.4(TRAPPC9):c.*532G>A
|
rs187594197
|
|
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=)
|
rs145960296
|
|
NM_001161352.2(KCNMA1):c.1131+11dup
|
rs545073914
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001161748.2(LIM2):c.337G>A (p.Val113Met)
|
rs73934370
|
|
NM_001164508.2(NEB):c.17635-3del
|
rs3214503
|
|
NM_001164508.2(NEB):c.18579+11C>T
|
rs567282220
|
|
NM_001164508.2(NEB):c.20467-5_20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.20467-6_20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)
|
rs140967744
|
|
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu)
|
rs549227905
|
|
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=)
|
rs577065342
|
|
NM_001167.4(XIAP):c.*5180dup
|
rs60841987
|
|
NM_001173467.3(SP7):c.-47-15dup
|
rs886049660
|
|
NM_001182.5(ALDH7A1):c.313-15G>A
|
rs201720741
|
|
NM_001199.3(BMP1):c.-263_-260GGAG[4]
|
rs750344454
|
|
NM_001202.6(BMP4):c.*146_*148dup
|
rs1555339771
|
|
NM_001202.6(BMP4):c.*148_*149insAAT
|
rs796563569
|
|
NM_001202.6(BMP4):c.*148_*149insAT
|
rs796563569
|
|
NM_001202.6(BMP4):c.*148_*149insT
|
rs796563569
|
|
NM_001202.6(BMP4):c.*149G>A
|
rs74495140
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
NM_001242957.3(MAK):c.1184G>T (p.Arg395Leu)
|
rs62000445
|
|
NM_001242957.3(MAK):c.843C>T (p.His281=)
|
rs55950618
|
|
NM_001244710.2(GFPT1):c.2056-11del
|
rs201268947
|
|
NM_001244710.2(GFPT1):c.2056-12_2056-11del
|
rs201268947
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.30683-2del
|
rs1553868981
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr)
|
rs72655984
|
|
NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=)
|
rs771896570
|
|
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)
|
rs2072221
|
|
NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg)
|
rs369196786
|
|
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup)
|
rs141566950
|
|
NM_001349338.3(FOXP1):c.*1231_*1235dup
|
rs373349025
|
|
NM_001349338.3(FOXP1):c.*4029del
|
rs753706183
|
|
NM_001349338.3(FOXP1):c.1147-9dup
|
rs774665288
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=)
|
rs886050626
|
|
NM_001355436.2(SPTB):c.6270-8_6270-6dup
|
rs528966701
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001377.3(DYNC2H1):c.12766-7dup
|
rs747006567
|
|
NM_001377.3(DYNC2H1):c.7840-6dup
|
rs886047567
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)
|
rs35088381
|
|
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)
|
rs375741383
|
|
NM_001395413.1(POR):c.1182G>A (p.Ser394=)
|
rs72557928
|
|
NM_001451.3(FOXF1):c.*1176del
|
rs397854726
|
|
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu)
|
rs200902568
|
|
NM_001457.4(FLNB):c.5042C>G (p.Pro1681Arg)
|
rs780823510
|
|
NM_001457.4(FLNB):c.6634+11C>T
|
rs374708033
|
|
NM_001558.4(IL10RA):c.67+11G>C
|
rs376956484
|
|
NM_001609.4(ACADSB):c.1228+21del
|
rs11307362
|
|
NM_001643.2(APOA2):c.53-43TG[16]
|
rs17244502
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
NM_001643.2(APOA2):c.53-43TG[21]
|
rs17244502
|
|
NM_001770.6(CD19):c.*129GT[14]
|
rs10633752
|
|
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)
|
rs536885536
|
|
NM_001851.6(COL9A1):c.1342-16dup
|
rs759288929
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.4357-16dup
|
rs748850423
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
NM_002241.5(KCNJ10):c.*1970GT[21]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*1970GT[22]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*1970GT[24]
|
rs56656397
|
|
NM_002397.4(MEF2C):c.-450dup
|
rs144197632
|
|
NM_002397.4(MEF2C):c.-548_-546CTC[8]
|
rs567979916
|
|
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=)
|
rs563513161
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
NM_002474.3(MYH11):c.3651+5T>G
|
rs794727439
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)
|
rs553270591
|
|
NM_002693.3(POLG):c.2109C>T (p.Ala703=)
|
rs2307429
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)
|
rs544300820
|
|
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)
|
rs529719024
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)
|
rs121908893
|
|
NM_003119.4(SPG7):c.1780-16_1780-14del
|
rs863224213
|
|
NM_003126.4(SPTA1):c.1834-14del
|
rs3039789
|
|
NM_003126.4(SPTA1):c.1834-15_1834-14del
|
rs3039789
|
|
NM_003126.4(SPTA1):c.1834-16_1834-14del
|
rs3039789
|
|
NM_003126.4(SPTA1):c.6120+11del
|
rs750152009
|
|
NM_003126.4(SPTA1):c.6789-19_6789-17dup
|
rs5778083
|
|
NM_003221.4(TFAP2B):c.*912CA[6]
|
rs35649205
|
|
NM_003283.6(TNNT1):c.751-5C>T
|
rs192248377
|
|
NM_003289.4(TPM2):c.773-5_773-3dup
|
rs35401252
|
|
NM_003383.5(VLDLR):c.-42GGC[5]
|
rs71329437
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
NM_003392.7(WNT5A):c.*1953dup
|
rs78756487
|
|
NM_003465.3(CHIT1):c.1155_1156+2del
|
rs143439055
|
|
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val)
|
rs1065761
|
|
NM_003465.3(CHIT1):c.807C>T (p.Arg269=)
|
rs560698644
|
|
NM_003482.4(KMT2D):c.8047-7dup
|
rs200754433
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003659.4(AGPS):c.*1880AT[8]
|
rs59535792
|
|
NM_003722.5(TP63):c.*2555dup
|
rs772929136
|
|
NM_003764.4(STX11):c.*1221dup
|
rs397725572
|
|
NM_004273.5(CHST3):c.1380C>A (p.Ala460=)
|
rs369055984
|
|
NM_004415.4(DSP):c.1848G>A (p.Gln616=)
|
rs1215425090
|
|
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
NM_004415.4(DSP):c.36C>T (p.Asn12=)
|
rs886061744
|
|
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
|
rs397516957
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
NM_004519.4(KCNQ3):c.-139dup
|
rs879019805
|
|
NM_004519.4(KCNQ3):c.-140_-139dup
|
rs879019805
|
|
NM_004519.4(KCNQ3):c.-148_-147insTG
|
rs886062698
|
|
NM_004525.3(LRP2):c.428-8del
|
rs370823033
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004820.5(CYP7B1):c.123-19dup
|
rs8192895
|
|
NM_004820.5(CYP7B1):c.260-15dup
|
rs8192896
|
|
NM_005045.4(RELN):c.-24GGC[12] (p.Met1_Glu2insGlyGlyGlyGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.-24GGC[13] (p.Met1_Glu2insGlyGlyGlyGlyGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.-24GGC[14] (p.Met1_Glu2insGlyGlyGlyGlyGlyGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.-24GGC[7]
|
rs55656324
|
|
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.5211-7dup
|
rs34125550
|
|
NM_005159.5(ACTC1):c.-55CCG[3]
|
rs886051092
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005219.5(DIAPH1):c.*1765_*1766dup
|
rs539203577
|
|
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.402+12del
|
rs555848272
|
|
NM_005263.5(GFI1):c.925-40CT[17]
|
rs35896485
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
NM_005677.3(COLQ):c.-120_-119CA[9]
|
rs746566925
|
|
NM_005677.3(COLQ):c.-122_-121delCG
|
rs530131087
|
|
NM_005996.4(TBX3):c.-895TC[14]
|
rs57078153
|
|
NM_006005.3(WFS1):c.1134C>G (p.Thr378=)
|
rs71530904
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
NM_006017.3(PROM1):c.2374-14dup
|
rs370477050
|
|
NM_006096.4(NDRG1):c.64-20dup
|
rs756038946
|
|
NM_006208.3(ENPP1):c.313+9GT[16]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[17]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[22]
|
rs59956343
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006445.4(PRPF8):c.2182-6dup
|
rs779420760
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
NM_006757.4(TNNT3):c.722+15C>T
|
rs201336939
|
|
NM_006996.3(SLC19A2):c.205-25dup
|
rs755410874
|
|
NM_007055.4(POLR3A):c.1771-5del
|
rs544204280
|
|
NM_007078.3(LDB3):c.897-6707G>A
|
rs537660741
|
|
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)
|
rs80357113
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)
|
rs34316445
|
|
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)
|
rs61754640
|
|
NM_014000.3(VCL):c.622+4C>T
|
rs201020802
|
|
NM_014053.4(FLVCR1):c.*2061CA[12]
|
rs139242973
|
|
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
|
rs371378288
|
|
NM_014251.3(SLC25A13):c.1312-12del
|
rs771217878
|
|
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser)
|
rs151239794
|
|
NM_014336.5(AIPL1):c.*151_*152dup
|
rs77115868
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly)
|
rs548992623
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)
|
rs113014863
|
|
NM_014855.3(AP5Z1):c.2153+8G>A
|
rs189564026
|
|
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)
|
rs188569082
|
|
NM_014989.7(RIMS1):c.4618+20dup
|
rs113359739
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_016203.4(PRKAG2):c.*896del
|
rs532079387
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg)
|
rs146754758
|
|
NM_016239.4(MYO15A):c.4038+8GT[28]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[29]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[30]
|
rs59214589
|
|
NM_016247.4(IMPG2):c.534-13dup
|
rs567795716
|
|
NM_016277.5(RAB23):c.242-31ATTG[6]
|
rs45542438
|
|
NM_017433.5(MYO3A):c.1053+11_1053+12inv
|
|
|
NM_017636.4(TRPM4):c.1843C>T (p.Leu615=)
|
rs532994978
|
|
NM_017636.4(TRPM4):c.92+12G>A
|
rs377431946
|
|
NM_017668.3(NDE1):c.*898del
|
rs60544332
|
|
NM_017668.3(NDE1):c.*898dup
|
rs60544332
|
|
NM_017882.3(CLN6):c.*141GT[11]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[8]
|
rs3837692
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018249.6(CDK5RAP2):c.1859-14dup
|
rs747385902
|
|
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
|
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
NM_018451.5(CENPJ):c.2992-18_2992-17del
|
rs151246139
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_019032.6(ADAMTSL4):c.2178-7C>A
|
rs587746986
|
|
NM_019098.5(CNGB3):c.212-6del
|
rs745969238
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
NM_019892.6(INPP5E):c.1034+8G>A
|
rs201272028
|
|
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)
|
rs368026621
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.1165-7_1165-6del
|
rs35857705
|
|
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)
|
rs200417975
|
|
NM_020686.6(ABAT):c.540+14CA[13]
|
rs35745596
|
|
NM_020800.3(IFT80):c.2224-10dup
|
rs58665245
|
|
NM_021939.4(FKBP10):c.21C>T (p.Pro7=)
|
rs781985978
|
|
NM_022124.6(CDH23):c.-197GAGCGGC[5]
|
rs527578984
|
|
NM_022124.6(CDH23):c.2290-13del
|
rs397517316
|
|
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
|
rs371587906
|
|
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)
|
rs770103215
|
|
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
|
|
|
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del)
|
rs573567814
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu)
|
rs71622515
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[13]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[14]
|
rs57301725
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025136.4(OPA3):c.*4696ATAA[8]
|
rs58537694
|
|
NM_025137.4(SPG11):c.6205+10C>G
|
rs548551204
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=)
|
rs566837952
|
|
NM_030787.4(CFHR5):c.1350G>A (p.Gly450=)
|
rs77159278
|
|
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)
|
rs141321678
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln)
|
rs548506734
|
|
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg)
|
rs569753606
|
|
NM_033100.4(CDHR1):c.159C>A (p.His53Gln)
|
rs12781048
|
|
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr)
|
rs201515900
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033337.3(CAV3):c.-33G>T
|
rs72546666
|
|
NM_052813.5(CARD9):c.808-9C>A
|
rs200458322
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
NM_133642.5(LARGE1):c.2073+12G>A
|
rs377566674
|
|
NM_138694.4(PKHD1):c.11507-12del
|
rs771337119
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
NM_139057.4(ADAMTS17):c.*1014_*1019del
|
rs11277519
|
|
NM_139343.3(BIN1):c.1132-22TGC[7]
|
rs748026377
|
|
NM_145200.5(CABP4):c.541+7_541+8delinsGC
|
rs34039523
|
|
NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup)
|
rs10578999
|
|
NM_152263.4(TPM3):c.243+11GA[2]
|
rs146969764
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_153427.2(PITX2):c.-1532C>A
|
rs117231596
|
|
NM_153427.2(PITX2):c.-429C>G
|
rs985015612
|
|
NM_173842.3(IL1RN):c.318+12C>G
|
rs561872655
|
|
NM_174878.3(CLRN1):c.*265AT[5]
|
rs550716419
|
|
NM_174878.3(CLRN1):c.*277GT[12]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[15]
|
rs34027634
|
|
NM_175914.5(HNF4A):c.*2600T>C
|
rs886056689
|
|
NM_175914.5(HNF4A):c.*2796AC[1]
|
rs548863430
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_175914.5(HNF4A):c.50-4791_50-4788del
|
rs886056679
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)
|
rs145776307
|
|
NM_198525.3(KIF7):c.1221C>T (p.Ala407=)
|
rs886051535
|
|
NM_198525.3(KIF7):c.2592+11C>T
|
rs78199895
|
|
NM_198578.4(LRRK2):c.6281-3dup
|
rs780258764
|
|
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=)
|
rs568125844
|
|
NM_199242.3(UNC13D):c.1728-13C>T
|
rs745855631
|
|
NM_203447.4(DOCK8):c.3234+15dup
|
rs375864618
|
|
NM_206933.4(USH2A):c.3317-14del
|
rs376363548
|
|
NM_213599.3(ANO5):c.*112_*113del
|
rs5790246
|
|
Single allele
|
|
|