ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Illumina Laboratory Services, Illumina and "benign" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2769
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HGVS dbSNP gnomAD frequency
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

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