ClinVar Miner

List of variants reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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ClinVar version:
Total variants: 3036
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65696
NM_000152.5(GAA):c.547-67C>G rs8069491 0.65691
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000150.4(FUT6):c.370C>T (p.Pro124Ser) rs778805 0.43749
NM_005525.4(HSD11B1):c.332-29T>G rs12086634 0.19650
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp) rs35424709 0.07775
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_005491.5(MAMLD1):c.1514T>C (p.Val505Ala) rs61740566 0.05698
NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) rs1800973 0.04360
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_000511.6(FUT2):c.73A>G (p.Ile25Val) rs1800021 0.03636
NM_007068.4(DMC1):c.598A>G (p.Met200Val) rs2227914 0.03604
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965 0.03475
NM_005577.4(LPA):c.5157C>T (p.Asp1719=) rs41264848 0.02249
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_002191.4(INHA):c.769G>A (p.Ala257Thr) rs12720062 0.01646
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_058172.6(ANTXR2):c.225-4G>A rs141355689 0.01410
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) rs45564939 0.01229
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_015545.4(PTCD1):c.307C>T (p.Arg103Cys) rs150504114 0.00853
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_001919.4(ECI1):c.227C>T (p.Thr76Met) rs112729404 0.00760
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451 0.00554
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_001100607.3(SERPINA10):c.262C>T (p.Arg88Ter) rs2232698 0.00485
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter) rs76274604 0.00480
NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys) rs190351859 0.00469
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001127898.4(CLCN5):c.316-17T>G rs56117808 0.00404
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr) rs35703638 0.00326
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg) rs148851677 0.00303
NM_002273.4(KRT8):c.187A>G (p.Ile63Val) rs59536457 0.00302
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) rs72470545 0.00231
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser) rs61745273 0.00211
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_006179.5(NTF4):c.263C>T (p.Ala88Val) rs61732310 0.00196
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_001752.4(CAT):c.903+5G>T rs147912187 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_000152.5(GAA):c.-312C>T rs574326920 0.00161
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_001112.4(ADARB1):c.1397-354A>G rs544025652 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_001098537.3(PNPLA7):c.3443G>A (p.Gly1148Glu) rs141473646 0.00086
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_004793.4(LONP1):c.1985T>G (p.Val662Gly) rs144822855 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00056
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_152416.4(NDUFAF6):c.715-3C>A rs200620409 0.00054
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852 0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) rs147337485 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His) rs754607405 0.00035
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_000543.5(SMPD1):c.1091+10G>A rs148067213 0.00033
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys) rs201107590 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_006059.4(LAMC3):c.1066C>T (p.Arg356Cys) rs138713603 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_018082.6(POLR3B):c.2817+30T>A rs142517808 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_001813.3(CENPE):c.80C>T (p.Ala27Val) rs533108216 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00020
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000078.3(CETP):c.663C>A (p.Ser221Arg) rs201438792 0.00019
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_000070.3(CAPN3):c.*534T>C rs772498665 0.00016
NM_000157.4(GBA1):c.535G>C (p.Asp179His) rs147138516 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_002291.3(LAMB1):c.2315-28A>G rs778943882 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr) rs201012033 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val) rs200971081 0.00013
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) rs201806410 0.00012
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu) rs776826330 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_005868.6(BET1):c.134del (p.Ala45fs) rs541754296 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys) rs749113504 0.00009
NM_001458.5(FLNC):c.643G>A (p.Val215Met) rs754309921 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp) rs368213717 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_024854.5(PYROXD1):c.285+1G>A rs369083786 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) rs372435824 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp) rs142620721 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00006
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys) rs144063384 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001367823.1(ARHGEF18):c.1469G>T (p.Arg490Leu) rs960519789 0.00006
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) rs201079485 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) rs138305578 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly) rs34757931 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter) rs140115503 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NM_000152.5(GAA):c.1075+9T>C rs751918816 0.00005
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001371928.1(AHDC1):c.803C>T (p.Ser268Leu) rs751818701 0.00005
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile) rs535526499 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.70del (p.Asp24fs) rs1407149518 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) rs373418736 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn) rs921423540 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_001098537.3(PNPLA7):c.1889+1G>A rs767961762 0.00004
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys) rs374055486 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn) rs201622088 0.00004
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu) rs1028575136 0.00004
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003906.5(MCM3AP):c.4787G>A (p.Arg1596His) rs541319271 0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_007055.4(POLR3A):c.200G>A (p.Arg67His) rs778357727 0.00004
NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln) rs781132110 0.00004
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) rs755312623 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys) rs368953286 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_033100.4(CDHR1):c.295del (p.Glu99fs) rs867166472 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) rs193922477 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) rs752002666 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000152.5(GAA):c.955+14C>A rs756921041 0.00003
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro) rs765713843 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000440.3(PDE6A):c.998+1G>A rs748946491 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser) rs931374138 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu) rs199808499 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002887.4(RARS1):c.5A>G (p.Asp2Gly) rs672601372 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp) rs368767696 0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter) rs373493102 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser) rs759625896 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) rs878853353 0.00003
NM_007055.4(POLR3A):c.1572+1G>A rs141484643 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter) rs148879912 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter) rs398122963 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.424+4C>A rs772775579 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_001082971.2(DDC):c.476C>T (p.Ala159Val) rs201828034 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001205254.2(OCLN):c.1037+1G>A rs748442113 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala) rs755487351 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys) rs778705470 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr) rs1174447128 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_005993.5(TBCD):c.1087+5G>A rs374775577 0.00002
NM_006269.2(RP1):c.5962dup (p.Ile1988fs) rs769512989 0.00002
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp) rs185479618 0.00002
NM_006612.6(KIF1C):c.697C>T (p.Leu233Phe) rs1361059674 0.00002
NM_007055.4(POLR3A):c.2081G>A (p.Arg694His) rs376405070 0.00002
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) rs771786550 0.00002
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser) rs192332506 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682 0.00002
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797 0.00002
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018082.6(POLR3B):c.1857-12A>G rs528038639 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg) rs200865021 0.00002
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_021222.3(PRUNE1):c.115G>C (p.Ala39Pro) rs756008936 0.00002
NM_021831.6(AGBL5):c.842G>A (p.Arg281His) rs1448861312 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585 0.00002
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.946-29del rs1595826640 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp) rs1448515860 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000156.6(GAMT):c.145del (p.Tyr49fs) rs1384688313 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) rs145817990 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.571-3C>G rs1367661704 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg) rs771405370 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu) rs758786811 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000158.4(GBE1):c.563A>C (p.His188Pro) rs773558446 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) rs767100121 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) rs764146649 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.212A>G (p.Glu71Gly) rs781927744 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) rs139951191 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys) rs121908385 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.158+1G>A rs1264013707 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000283.4(PDE6B):c.1108-2A>G rs1316718953 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) rs1211325812 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000352.6(ABCC8):c.1176+2T>C rs750586210 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000352.6(ABCC8):c.2116+2T>C rs786204676 0.00001
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) rs1484689392 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.3126_3127insAGGAACTG (p.Leu1043fs) rs766033867 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.3868-1G>A rs766431403 0.00001
NM_000352.6(ABCC8):c.3988+2T>C rs745349258 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg) rs748233295 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys) rs756823374 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser) rs1462559571 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp) rs759589388 0.00001
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) rs145088074 0.00001
NM_000540.3(RYR1):c.46-1G>A rs1238479593 0.00001
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro) rs780420237 0.00001
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu) rs1043661945 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg) rs138145827 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser) rs753702603 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile) rs775608608 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.503G>A (p.Arg168His) rs377110124 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp) rs757574765 0.00001
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr) rs573680102 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001080483.3(MYMK):c.399+5G>A rs755976471 0.00001
NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs) rs1386322306 0.00001
NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro) rs1225241777 0.00001
NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn) rs778818769 0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) rs151017794 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.3164+1G>A rs1029564423 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr) rs149686954 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) rs796206315 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_001256789.3(CACNA1F):c.3846C>T (p.Thr1282=) rs782121738 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) rs769424345 0.00001
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) rs764097811 0.00001
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter) rs1210581905 0.00001
NM_001352754.2(ARMC9):c.1307T>C (p.Leu436Pro) rs925676705 0.00001
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=) rs766572502 0.00001
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu) rs754136527 0.00001
NM_001358921.2(COQ2):c.253+4A>T rs907149421 0.00001
NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg) rs1650946025 0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys) rs752940799 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384140.1(PCDH15):c.92-528C>T rs190773725 0.00001
NM_001384732.1(CPLANE1):c.6172C>G (p.Leu2058Val) rs576883816 0.00001
NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg) rs566588740 0.00001
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter) rs1482303814 0.00001
NM_001395891.1(CLASP1):c.196-571C>T rs765906028 0.00001
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter) rs398122382 0.00001
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys) rs375234125 0.00001
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349 0.00001
NM_001673.5(ASNS):c.203C>T (p.Pro68Leu) rs774187768 0.00001
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly) rs1689781072 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_003322.6(TULP1):c.1597T>C (p.Ser533Pro) rs769287941 0.00001
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr) rs769000561 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met) rs765156550 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331 0.00001
NM_003560.4(PLA2G6):c.1532T>C (p.Leu511Pro) rs1356679312 0.00001
NM_003560.4(PLA2G6):c.1591+5G>C rs1064796469 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) rs753874848 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) rs1043378899 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.1912G>A (p.Gly638Arg) rs1000303487 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly) rs746405809 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652 0.00001
NM_003835.4(RGS9):c.458A>G (p.Tyr153Cys) rs755034844 0.00001
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter) rs776926045 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004793.4(LONP1):c.2536G>A (p.Glu846Lys) rs752945140 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu) rs1376071051 0.00001
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) rs137853102 0.00001
NM_005327.7(HADH):c.406A>G (p.Lys136Glu) rs1262186453 0.00001
NM_005529.7(HSPG2):c.8316+1G>A rs927473035 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_005993.5(TBCD):c.2789A>G (p.His930Arg) rs775950678 0.00001
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys) rs149378938 0.00001
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555 0.00001
NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs) rs754820097 0.00001
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752 0.00001
NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter) rs745418947 0.00001
NM_007055.4(POLR3A):c.147_148insT (p.Pro50fs) rs772708260 0.00001
NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln) rs753456807 0.00001
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn) rs779315061 0.00001
NM_007055.4(POLR3A):c.1787C>T (p.Thr596Met) rs756953635 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834 0.00001
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) rs750874617 0.00001
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu) rs1211210077 0.00001
NM_007055.4(POLR3A):c.2563C>T (p.Arg855Trp) rs775160820 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) rs763270865 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007055.4(POLR3A):c.3669C>A (p.Tyr1223Ter) rs1337528878 0.00001
NM_007055.4(POLR3A):c.3688_3691dup (p.Asn1231delinsArgTer) rs1292401633 0.00001
NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser) rs1003620056 0.00001
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) rs757209071 0.00001
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680 0.00001
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350 0.00001
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter) rs546487084 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu) rs80357031 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter) rs886037931 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014444.5(TUBGCP4):c.1597-11A>G rs1471253381 0.00001
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg) rs1660302910 0.00001
NM_015102.5(NPHP4):c.2598_2607dup (p.Arg870fs) rs752910449 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met) rs757728167 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter) rs1175979418 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) rs1239939744 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017752.3(TBC1D8B):c.1316T>G (p.Phe439Cys) rs1223251037 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_018082.6(POLR3B):c.1464+1G>A rs1158662109 0.00001
NM_018082.6(POLR3B):c.1615G>T (p.Val539Phe) rs1171962004 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn) rs781671613 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_018082.6(POLR3B):c.2104C>T (p.Arg702Ter) rs201401034 0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr) rs146513209 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter) rs1437442253 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018082.6(POLR3B):c.2818-1G>T rs1057520785 0.00001
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro) rs749670593 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr) rs765382317 0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) rs758437925 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018941.4(CLN8):c.416A>G (p.His139Arg) rs1195769874 0.00001
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile) rs778368053 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582 0.00001
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) rs794727976 0.00001
NM_020451.3(SELENON):c.1209dup (p.Lys404fs) rs745715484 0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) rs760063405 0.00001
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) rs756927098 0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) rs960468382 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys) rs765368764 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) rs757446463 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020451.3(SELENON):c.976G>A (p.Val326Ile) rs764032922 0.00001
NM_021831.6(AGBL5):c.971C>T (p.Pro324Leu) rs766193452 0.00001
NM_022081.6(HPS4):c.706+1G>A rs374343385 0.00001
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_024649.5(BBS1):c.592-21A>T rs754794374 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro) rs774806370 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) rs200088200 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033453.4(ITPA):c.264-1G>A rs781254071 0.00001
NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr) rs781071853 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met) rs561701894 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs) rs1584279870 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys) rs1313698326 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
NM_152906.7(TANGO2):c.711-3C>G rs367912276 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro) rs771718467 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_176806.4(MOCS2):c.3G>A (p.Met1Ile) rs1273139451 0.00001
NM_176822.4(NLRP14):c.257A>T (p.Asp86Val) rs199735773 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) rs779336736 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter) rs1584802744 0.00001
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) rs768905244 0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) rs1047016803 0.00001
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter) rs773498177 0.00001
NM_201548.5(CERKL):c.780del (p.Pro261fs) rs398122964 0.00001
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236 0.00001
GRCh37/hg19 7q22.1-22.3(chr7:103354482-105407628)
GRCh37/hg19 7q22.1-22.3(chr7:103679146-105547471)
GRCh37/hg19 7q22.3(chr7:104678742-104730547)
GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)
GRCh38/hg38 10q23.33(chr10:94131004-94133482)x0
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
GRCh38/hg38 11q22.3(chr11:108358364-108376364)x0
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1
GRCh38/hg38 14q11.2(chr14:21287774-21294830)x3
GRCh38/hg38 14q12(chr14:28766690-29666306)x1
GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
GRCh38/hg38 17p12(chr17:16018139-16028011)x0
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3
GRCh38/hg38 17q11.2(chr17:29461486-29495582)x1
GRCh38/hg38 17q12(chr17:36486532-37745203)x1
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1
GRCh38/hg38 18q21.2(chr18:53157259-53340005)x1
GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1
GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1
GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1
GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1
GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1
GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1
GRCh38/hg38 19q13.42(chr19:54152129-54161358)x1
GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1
GRCh38/hg38 1p34.3(chr1:39428731-39468326)x1
GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1
GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0
GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0
GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0
GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1
GRCh38/hg38 1q44(chr1:244051186-244055631)x1
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
GRCh38/hg38 22q13.2(chr22:41527570-41532843)x1
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
GRCh38/hg38 2q13(chr2:111940205-112029659)x0
GRCh38/hg38 2q13(chr2:111940205-112055854)x1
GRCh38/hg38 2q13(chr2:111993999-111994721)x1
GRCh38/hg38 2q21.1(chr2:130099219-130374931)x1
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
GRCh38/hg38 2q35(chr2:219420345-219431647)x1
GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0
GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
GRCh38/hg38 4q28.2(chr4:127949707-127984521)x0
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1
GRCh38/hg38 6q12(chr6:64902016-64946012)x1
GRCh38/hg38 6q12(chr6:64997485-65057825)x0
GRCh38/hg38 6q12(chr6:65331371-65405465)x1
GRCh38/hg38 6q21(chr6:106539306-106649299)x1
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3
GRCh38/hg38 7q35(chr7:147043810-147167670)x0
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3
GRCh38/hg38 9q21.2(chr9:78235965-78243734)x1
GRCh38/hg38 9q31.1(chr9:101426458-101431155)x0
GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1
GRCh38/hg38 Xp11.23(chrX:49222435-49226325)x0
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
GRCh38/hg38 Xp21.1(chrX:31601428-31727780)x0
GRCh38/hg38 Xp21.1(chrX:31782226-32088001)x0
GRCh38/hg38 Xp21.1(chrX:31929309-31932391)x1
GRCh38/hg38 Xp21.1(chrX:32216792-33041819)x0
GRCh38/hg38 Xp21.1(chrX:32536377-32771300)x0
GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3
GRCh38/hg38 Xp22.2(chrX:11766227-11770962)x0
GRCh38/hg38 Xq23(chrX:111250820-111333251)x1
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
NC_000006.12:g.106539151_106629957del
NC_000017.11:g.59664787del rs1598226304
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.37+5G>T
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000033.4(ABCD1):c.125del (p.Pro42fs) rs2148388674
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000044.6(AR):c.646G>A (p.Gly216Arg) rs199554641
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe) rs866769874
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter) rs1595828703
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1333G>T (p.Gly445Ter)
NM_000070.3(CAPN3):c.1354+129T>A
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter) rs1595844413
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe) rs1595819812
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr) rs1595822648
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000132.4(F8):c.1443+18T>G rs782583179
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000147.5(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000150.4(FUT6):c.907C>G (p.Arg303Gly) rs61147939
NM_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) rs1478500490
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1195-2A>G rs765360653
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1704C>G (p.His568Gln) rs776882059
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys) rs1175728529
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) rs112517802
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala) rs781484283
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1836C>G (p.His612Gln) rs768397968
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro) rs775524898
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.671G>C (p.Arg224Pro) rs200210219
NM_000152.5(GAA):c.692+1G>A rs773281453
NM_000152.5(GAA):c.692+1G>C rs773281453
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro) rs1566976644
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.440_441del (p.His147fs) rs1487842051
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.491G>T (p.Gly164Val) rs760101382
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro) rs1483148182
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1296G>A (p.Trp432Ter) rs1484043383
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg) rs794727708
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) rs398123530
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys) rs781152868
NM_000157.4(GBA1):c.751T>C (p.Tyr251His) rs121908300
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter) rs773775991
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu) rs1253319926
NM_000158.4(GBE1):c.956A>G (p.His319Arg) rs1490328834
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) rs193929374
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.577G>C (p.Gly193Arg) rs376050856
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.709G>A (p.Glu237Lys) rs1176858193
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.773G>A (p.Gly258Asp) rs747662793
NM_000163.5(GHR):c.266+1G>A rs1009412984
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.3(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000171.4(GLRA1):c.921dup (p.Val308fs)
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter) rs1341592819
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) rs1467653379
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.238del (p.Leu80fs) rs1453977337
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) rs376557022
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.136+172T>C
NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs) rs863225114
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) rs1595074765
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.4(MYH7):c.5158-16C>G
NM_000257.4(MYH7):c.5655+1G>A
NM_000257.4(MYH7):c.5655+1G>C rs1892079951
NM_000257.4(MYH7):c.5655+4A>T
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser) rs747310316
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile) rs746285672
NM_000276.4(OCRL):c.108del (p.Asn36fs)
NM_000276.4(OCRL):c.111del (p.Gln38fs)
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.869del (p.Pro290fs) rs2133956351
NM_000283.4(PDE6B):c.1107+219G>A
NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys) rs1263635426
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) rs766049601
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.537_540del (p.Pro179_Ile180insTer) rs1470086286
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.975+2_975+3insTT
NM_000310.4(PPT1):c.146T>G (p.Leu49Ter) rs1557714302
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000329.3(RPE65):c.922_924del (p.Pro308del) rs756125943
NM_000335.5(SCN5A):c.3065C>A (p.Thr1022Asn) rs2061573479
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.396del (p.Leu132fs)
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.5196+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.629del (p.Leu210fs) rs2101135952
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
NM_000352.6(ABCC8):c.1138del (p.Ala380fs)
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)
NM_000352.6(ABCC8):c.148+1G>A
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu) rs144481621
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.1817+2T>C
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter) rs751848086
NM_000352.6(ABCC8):c.2117-2A>T rs1476853180
NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
NM_000352.6(ABCC8):c.2921-1G>A rs772682942
NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter) rs192863214
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) rs755259997
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3163-1G>A
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.3330-13G>A
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)
NM_000352.6(ABCC8):c.3828del (p.Ala1277fs)
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.55C>T (p.Gln19Ter)
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
NM_000376.3(VDR):c.227G>T (p.Cys76Phe) rs1565618291
NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.631C>T (p.Gln211Ter) rs143301836
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000391.4(TPP1):c.230-2A>G
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.3412-2A>C rs1562449164
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter) rs922640025
NM_000426.4(LAMA2):c.8988+1G>T
NM_000430.4(PAFAH1B1):c.1002+1G>A rs113994203
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg) rs2113582384
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys) rs141252097
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.1258dup (p.His420fs) rs1598809697
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.215del (p.Gly72fs)
NM_000458.4(HNF1B):c.344+2_344+5del
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
NM_000458.4(HNF1B):c.935dup (p.Leu313fs)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) rs1569015549
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) rs34533941
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) rs200248198
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.568G>C (p.Asp190His) rs104893779
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser) rs1568593922
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14647-3C>G rs1974401494
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.3178+587A>G
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser) rs1568465251
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln) rs1053579438
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys) rs2145677238
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr) rs747433197
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter) rs1877175078
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) rs1308016430
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp) rs539507291
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg) rs267603343
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.6(TP53):c.1083del (p.Ser362fs) rs1555524354
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_001002295.2(GATA3):c.708dup (p.Ser237fs) rs771019738
NM_001003841.3(SLC6A19):c.1169C>G (p.Ser390Ter)
NM_001005242.3(PKP2):c.335dup (p.Ala113fs)
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001011.4(RPS7):c.-19+1G>A rs1064796859
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)
NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg) rs1580526653
NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln) rs1596361132
NM_001018005.2(TPM1):c.772+17T>A rs1596386853
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001029.5(RPS26):c.182-16_182-4del
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.3+1G>T
NM_001029883.3(PCARE):c.1763dup (p.Pro588_Glu589insTer) rs763206332
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001032.5(RPS29):c.63-6T>G rs1594573747
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001034853.2(RPGR):c.114dup (p.His39fs) rs2147291671
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs) rs2147203790
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2409_2479dup (p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer)
NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs) rs2147197891
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter) rs2147197770
NM_001034853.2(RPGR):c.2474_2475insT (p.Glu825fs) rs2147197552
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs) rs2067176379
NM_001034853.2(RPGR):c.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
NM_001034853.2(RPGR):c.264_265del (p.Lys88fs) rs2147285764
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs) rs2147194427
NM_001034853.2(RPGR):c.2824del (p.Glu942fs) rs1601920131
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.2909del (p.Gly970fs) rs2147193425
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3221_3225del (p.Glu1074fs)
NM_001034853.2(RPGR):c.470-13T>G
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) rs786205273
NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met) rs369858004
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
NM_001039591.3(USP9X):c.771-2A>G
NM_001040142.2(SCN2A):c.1177-2A>C
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001042681.2(RERE):c.707A>G (p.Tyr236Cys) rs1570434132
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)
NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu) rs1581496432
NM_001070.5(TUBG1):c.618C>G (p.Asp206Glu) rs1200312178
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) rs1567441193
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg) rs1566001519
NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs)
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)
NM_001083962.2(TCF4):c.922+3G>T rs2145955178
NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val) rs2102736424
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys) rs1659962077
NM_001101.5(ACTB):c.1063_1082del (p.Met355fs) rs2128241165
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)
NM_001126108.2(SLC12A3):c.2273T>G (p.Ile758Ser) rs61730207
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter) rs762143393
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) rs1573811118
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4221+5del rs1574341049
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) rs1572921644
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134673.4(NFIA):c.1132C>T (p.Gln378Ter)
NM_001134673.4(NFIA):c.400del (p.Met133_Val134insTer)
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) rs950101299
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter) rs866804139
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.7056-2A>C rs1772621012
NM_001142800.2(EYS):c.7899-8A>G rs1769675220
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs)
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) rs1560841701
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
NM_001163435.3(TBCK):c.1888_1889del (p.Met630fs)
NM_001164508.2(NEB):c.11805+2T>A
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
NM_001164508.2(NEB):c.20719del (p.His6907fs)
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.24115-151C>A rs1575076895
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys) rs1575122611
NM_001164508.2(NEB):c.8697del (p.Lys2899fs)
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs)
NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln) rs902213391
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu) rs1592198426
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) rs796052835
NM_001191061.2(SLC25A22):c.191G>T (p.Gly64Val)
NM_001195553.2(DCX):c.665C>T (p.Thr222Ile) rs1603423268
NM_001195553.2(DCX):c.706-2794G>A
NM_001197104.2(KMT2A):c.10853del (p.Pro3618fs)
NM_001197104.2(KMT2A):c.11072-1G>A
NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001204077.2(UBE4A):c.1214_1215del (p.Asn405fs)
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001242957.3:c.1297_1298insAlu
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001252102.2(KIF21B):c.1061T>C (p.Phe354Ser)
NM_001256012.3(MYH10):c.220G>A (p.Asp74Asn)
NM_001256012.3(MYH10):c.5204G>A (p.Arg1735Gln)
NM_001256012.3(MYH10):c.5924G>A (p.Arg1975His)
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu) rs2135487981
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.104092del (p.Arg34698fs)
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.16055-3C>G
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser) rs1577672002
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) rs557526069
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) rs2066169270
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs) rs2064831878
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) rs1553775212
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.99716del (p.Asn33239fs)
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001272071.2(AP1S2):c.*241A>C
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001278116.2(L1CAM):c.3500dup (p.Met1168fs)
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn) rs1591299258
NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala) rs1591299252
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) rs1481189891
NM_001278716.2(FBXL4):c.1709_1710dup (p.Met571fs)
NM_001282225.2(ADA2):c.-47+2T>C
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001286577.2(C2CD3):c.3967G>T (p.Val1323Phe) rs1955571784
NM_001291303.3(FAT4):c.13582dup (p.Cys4528fs)
NM_001297.5(CNGB1):c.2304G>C (p.Lys768Asn) rs1596974089
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.3185T>G (p.Leu1062Arg) rs773593999
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
NM_001318510.2(ACSL4):c.332C>A (p.Thr111Asn) rs1412919038
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly) rs751046231
NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)
NM_001321120.2(TBX4):c.401+3A>T rs574516876
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001329943.3(KIAA0586):c.787C>T (p.Gln263Ter) rs985118235
NM_001330701.2(AGTPBP1):c.2362C>T (p.Gln788Ter) rs1564046794
NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys) rs1829302172
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001349338.3(FOXP1):c.1146+5G>C rs1553678368
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
NM_001351132.2(PEX5):c.140_147+36del
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_001354768.3(NRL):c.559C>A (p.Leu187Met) rs35984106
NM_001354969.2(MDM1):c.1227dup (p.Lys410Ter)
NM_001355221.1(TUBA4B):c.12+147G>C
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
NM_001365088.1(SLC12A6):c.2962_2963dup (p.Glu989fs) rs2140641550
NM_001365902.3(NFIX):c.413del (p.Lys138fs)
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) rs1602253509
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367943.1(TCF7L2):c.288G>T (p.Lys96Asn)
NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu) rs1602353928
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001368882.1(COL13A1):c.549+5G>A rs2134524471
NM_001368882.1(COL13A1):c.576+5G>A rs2060807560
NM_001368882.1(COL13A1):c.803del (p.Pro268fs)
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs) rs1578889355
NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter)
NM_001371928.1(AHDC1):c.519_520delinsC (p.Leu173fs)
NM_001371986.1(UNC80):c.8256+2T>G rs1575179679
NM_001372044.2(SHANK3):c.4978G>T (p.Glu1660Ter) rs1603447380
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
NM_001374504.1(TMPRSS6):c.836+1G>A
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) rs1583491515
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter) rs1794456297
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs) rs1562354784
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001375524.1(TRRAP):c.1562_1563insT (p.Ala522fs)
NM_001377.3(DYNC2H1):c.12542del (p.Asn4181fs)
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter) rs1574596084
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
NM_001378183.1(PIEZO2):c.2004del (p.Glu668fs)
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.10771del (p.Thr3591fs) rs2104105073
NM_001378454.1(ALMS1):c.11646_11649dup (p.Asn3884fs) rs2104189255
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs) rs1671340542
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs) rs768694789
NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter) rs1436425494
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met) rs201407161
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) rs767847479
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3501+2T>C rs757418440
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3718-2A>G rs1307471318
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
NM_001384732.1(CPLANE1):c.3507+1G>A rs1580686235
NM_001384732.1(CPLANE1):c.8663+1G>T rs1580084520
NM_001384732.1(CPLANE1):c.9148dup (p.Gln3050fs) rs1579888631
NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser) rs762363509
NM_001393986.1(PRDM2):c.2107_2109dup (p.Pro703dup) rs2308040
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe) rs1557668270
NM_001395058.1(MYO15B):c.2651+2T>A
NM_001395058.1(MYO15B):c.8109T>G (p.Asp2703Glu)
NM_001395891.1(CLASP1):c.196-562G>C
NM_001395891.1(CLASP1):c.196-589T>G
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) rs1057519479
NM_001458.5(FLNC):c.700-2A>G
NM_001458.5(FLNC):c.7588A>T (p.Thr2530Ser) rs760694025
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001673.5(ASNS):c.1137+200_1137+205del
NM_001673.5(ASNS):c.1235A>G (p.His412Arg) rs201394816
NM_001673.5(ASNS):c.484A>G (p.Lys162Glu) rs2115707912
NM_001673.5(ASNS):c.706del (p.Arg236fs) rs1791584683
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg) rs2139164302
NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp) rs2139162750
NM_001846.4(COL4A2):c.431C>G (p.Ser144Ter)
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.736-6T>C
NM_001849.4(COL6A2):c.855+1G>T rs1057517988
NM_001849.4(COL6A2):c.955-3C>G rs1208931749
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
NM_001904.4(CTNNB1):c.807del (p.Met271fs) rs2078160286
NM_001927.4(DES):c.500A>G (p.Glu167Gly) rs1575013470
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001961.4(EEF2):c.442del (p.Ala148fs)
NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_002144.4(HOXB1):c.764G>A (p.Arg255Gln) rs1567932264
NM_002161.6(IARS1):c.2229+5G>A
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
NM_002180.3(IGHMBP2):c.256+138A>G
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002291.3(LAMB1):c.4188+1G>C
NM_002292.4(LAMB2):c.511A>C (p.Thr171Pro) rs1560077016
NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)
NM_002354.3(EPCAM):c.265C>T (p.Gln89Ter) rs1324088403
NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr) rs1327830771
NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu) rs1566505007
NM_002529.4(NTRK1):c.1796_1799dup (p.Phe600fs)
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_002585.4(PBX1):c.701+2T>G
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) rs1602902855
NM_002778.4(PSAP):c.613_615dup (p.Val205dup) rs1589451004
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
NM_003038.5(SLC1A4):c.925G>T (p.Gly309Ter)
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_003124.5(SPR):c.80T>C (p.Leu27Pro) rs1559047972
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) rs1564349087
NM_003283.6(TNNT1):c.192+2dup
NM_003283.6(TNNT1):c.74-67C>A
NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle)
NM_003322.6(TULP1):c.1113-1G>T
NM_003322.6(TULP1):c.1113-9_1113delinsCATC rs2150924300
NM_003322.6(TULP1):c.487C>T (p.Gln163Ter) rs2150927932
NM_003322.6(TULP1):c.5C>A (p.Pro2His) rs1174952138
NM_003322.6(TULP1):c.890G>C (p.Arg297Pro) rs777674253
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly) rs387906830
NM_003470.3(USP7):c.1849_1850dup (p.Gln617fs)
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) rs1943099362
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.6991del (p.Pro2330_Leu2331insTer)
NM_003560.4(PLA2G6):c.1018G>A (p.Gly340Arg)
NM_003560.4(PLA2G6):c.1078-3C>A
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)
NM_003560.4(PLA2G6):c.1427+2T>C
NM_003560.4(PLA2G6):c.1472T>G (p.Leu491Arg)
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.1549G>T (p.Gly517Cys)
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) rs587784336
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg) rs547175863
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2128del (p.Arg710fs)
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.2277-2A>C rs552606315
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) rs775386225
NM_003560.4(PLA2G6):c.2375A>C (p.His792Pro) rs893021938
NM_003560.4(PLA2G6):c.2389C>T (p.Gln797Ter)
NM_003560.4(PLA2G6):c.278C>A (p.Pro93His)
NM_003560.4(PLA2G6):c.298C>T (p.Gln100Ter) rs1416924105
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala) rs1602184043
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.719T>C (p.Leu240Pro)
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer) rs2102658561
NM_003718.5(CDK13):c.1630C>T (p.Gln544Ter)
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003722.5(TP63):c.191+5G>C rs1553824695
NM_003900.5(SQSTM1):c.311_312del (p.Glu104fs) rs886039781
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
NM_003906.5(MCM3AP):c.5423del (p.Gly1808fs) rs747306849
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup) rs779557320
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter) rs1557294228
NM_004006.3(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.3(DMD):c.6438+88106A>G
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter) rs1556930579
NM_004006.3(DMD):c.8555dup (p.Arg2853fs)
NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr) rs201621364
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004273.5(CHST3):c.1052C>A (p.Ser351Tyr) rs1057520111
NM_004279.3(PMPCB):c.543_544del (p.Glu181fs)
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.6282+1G>C
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu) rs1766404539
NM_004370.6(COL12A1):c.8319+5G>A
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004429.5(EFNB1):c.101_114del (p.Pro34fs)
NM_004429.5(EFNB1):c.406+4A>G
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del) rs1841455410
NM_004522.3(KIF5C):c.1448A>G (p.Glu483Gly)
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
NM_004523.4(KIF11):c.2267+1G>A
NM_004523.4(KIF11):c.2548-1G>A rs1554863016
NM_004523.4(KIF11):c.2932_2933dup (p.Val978_Glu979insTer) rs2135925949
NM_004523.4(KIF11):c.77+1G>A rs1057524736
NM_004523.4(KIF11):c.89T>A (p.Leu30Ter)
NM_004523.4(KIF11):c.961C>T (p.Gln321Ter)
NM_004646.4(NPHS1):c.2276T>C (p.Ile759Thr) rs775313529
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp) rs142253030
NM_004711.5(SYNGR1):c.607_608insACA (p.Pro202_Thr203insAsn) rs57910921
NM_004722.4(AP4M1):c.974+115dup
NM_004826.4(ECEL1):c.2314T>C (p.Cys772Arg)
NM_004928.3(CFAP410):c.143+3A>T
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004991.4(MECOM):c.2772-4A>G
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_005045.4(RELN):c.5615-102A>G
NM_005087.4(FXR1):c.1603+733del rs769011065
NM_005087.4(FXR1):c.247A>G (p.Lys83Glu) rs1721862059
NM_005087.4(FXR1):c.346A>G (p.Asn116Asp) rs1721905984
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005215.4(DCC):c.1256del (p.Lys419fs)
NM_005215.4(DCC):c.1573+2T>G
NM_005215.4(DCC):c.2304C>G (p.Tyr768Ter)
NM_005215.4(DCC):c.3620-2A>G rs1292231805
NM_005219.5(DIAPH1):c.77dup (p.Pro27fs) rs1596421912
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
NM_005246.4(FER):c.1887A>C (p.Gln629His)
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005324.5(H3-3B):c.354C>A (p.Val118=) rs766432479
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) rs766656997
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.710-822C>A rs183387994
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005461.5(MAFB):c.197C>T (p.Ser66Phe) rs1600429244
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)
NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu) rs962267864
NM_005592.4(MUSK):c.909dup (p.Ala304fs) rs2131877883
NM_005629.4(SLC6A8):c.1152_1156dup (p.Phe386fs)
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu) rs1565962725
NM_005654.6(NR2F1):c.463+6T>C
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005677.4(COLQ):c.1061G>A (p.Trp354Ter) rs2125086401
NM_005677.4(COLQ):c.1319G>A (p.Cys440Tyr) rs2125077498
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_005859.5(PURA):c.273_328del (p.Gly92fs)
NM_005868.6(BET1):c.202G>C (p.Asp68His) rs1562806584
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr) rs1962535460
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) rs121913562
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) rs866158774
NM_005993.5(TBCD):c.2100del (p.Ile700fs) rs2061363316
NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg) rs1568053442
NM_005993.5(TBCD):c.951-2A>G rs2050922982
NM_005996.4(TBX3):c.830A>C (p.Asn277Thr)
NM_006000.3(TUBA4A):c.1169G>A (p.Arg390His)
NM_006000.3(TUBA4A):c.727C>A (p.Arg243Ser)
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) rs1038816435
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) rs1730930342
NM_006009.4(TUBA1A):c.1136G>A (p.Ser379Asn)
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) rs1557612048
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.2118del (p.Asn707fs)
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala)
NM_006059.4(LAMC3):c.2726A>G (p.Gln909Arg) rs1160626988
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg) rs864321715
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
NM_006086.4(TUBB3):c.371G>C (p.Cys124Ser)
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
NM_006204.4(PDE6C):c.1004+1G>A
NM_006204.4(PDE6C):c.1413+3A>T
NM_006204.4(PDE6C):c.2053del (p.Gln685fs)
NM_006269.2(RP1):c.2041dup (p.Ile681fs) rs1174193938
NM_006269.2(RP1):c.615+1G>T rs886210482
NM_006269.2(RP1):c.688G>T (p.Gly230Ter) rs1585559122
NM_006306.4(SMC1A):c.3507+5G>A
NM_006314.3(CNKSR1):c.851del (p.Pro284fs) rs781114848
NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)
NM_006348.5(COG5):c.959T>C (p.Leu320Pro) rs1584729488
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe) rs1554716504
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp) rs2151108985
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006459.4(ERLIN1):c.196-1G>A
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg) rs2154034738
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)
NM_006617.2(NES):c.23A>T (p.Glu8Val)
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr) rs201553627
NM_006623.4(PHGDH):c.511-5A>G
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006662.3(SRCAP):c.7364del (p.Pro2455fs)
NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu) rs1567254950
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3795-1G>A
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006852.6(TLK2):c.1589T>C (p.Leu530Pro)
NM_006852.6(TLK2):c.163A>G (p.Lys55Glu) rs774263147
NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1031G>T (p.Arg344Leu)
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) rs769791060
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter) rs1564624254
NM_007055.4(POLR3A):c.1451G>A (p.Arg484Gln)
NM_007055.4(POLR3A):c.1572+1G>T rs141484643
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg) rs762708292
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) rs751735990
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe) rs746116821
NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln) rs374831450
NM_007055.4(POLR3A):c.2425G>C (p.Val809Leu)
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) rs1399429058
NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg) rs748548960
NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter)
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) rs747257894
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) rs267608674
NM_007055.4(POLR3A):c.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.2988+1G>T rs201733323
NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.364AAG[1] (p.Lys123del) rs780755978
NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter) rs928051665
NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln) rs373306216
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) rs1378008503
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007055.4(POLR3A):c.4025-1G>A
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser) rs778865072
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr) rs1600416892
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_007347.5(AP4E1):c.1317-2A>C rs1567230528
NM_007347.5(AP4E1):c.1429+1G>T
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup) rs1588218148
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser) rs762907412
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012290.5(TLK1):c.1435C>G (p.Gln479Glu)
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp) rs1842359062
NM_012330.4(KAT6B):c.3690_3699del (p.Asn1230fs)
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
NM_012414.4(RAB3GAP2):c.2287_2291del (p.Ala762_Gly763insTer)
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter) rs1265287370
NM_013382.7(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.333+1G>T
NM_013432.5(TONSL):c.1435del (p.Glu479fs)
NM_014009.4(FOXP3):c.542+2T>G
NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp) rs2104355428
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val) rs1470798497
NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=) rs1404200133
NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro) rs2102536303
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) rs1575757363
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) rs1883571494
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014365.3(HSPB8):c.562del (p.Gln188fs) rs1954727678
NM_014370.4(SRPK3):c.749-2A>G
NM_014669.5(NUP93):c.1463A>G (p.His488Arg) rs1596856296
NM_014669.5(NUP93):c.2079G>C (p.Leu693Phe) rs1334928223
NM_014694.4(ADAMTSL2):c.1061del (p.Gly354fs)
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer) rs1484807480
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) rs1596461586
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter) rs557746506
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014845.6(FIG4):c.1475G>C (p.Arg492Pro) rs1777239433
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014946.4(SPAST):c.1567del (p.Cys523fs)
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) rs1135401779
NM_015047.3(EMC1):c.2588-771C>G
NM_015047.3(EMC1):c.287-1G>A rs751484278
NM_015100.4(POGZ):c.2508del (p.Phe836fs)
NM_015100.4(POGZ):c.3837del (p.Lys1279fs)
NM_015102.5(NPHP4):c.770_777del (p.Glu257fs) rs2102003035
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln) rs768711345
NM_015175.3(NBEAL2):c.3773_3774insCAGCGTTCGCCTC (p.Asp1259fs)
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015271.5(TRIM2):c.790del (p.Leu264fs)
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_015289.5(VPS39):c.442-2A>G
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) rs2037467316
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) rs2041587108
NM_015378.4(VPS13D):c.10142-2A>G
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) rs2077221203
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1095del (p.Leu366fs) rs2146445593
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.535delinsGG (p.Leu179fs) rs2146420485
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs) rs2073701307
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.950del (p.Gly317fs) rs886041773
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) rs769950460
NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del) rs2148496996
NM_015681.6(B9D1):c.338G>C (p.Gly113Ala) rs2152261827
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp) rs1647600390
NM_016023.5(OTUD6B):c.692T>C (p.Leu231Pro)
NM_016023.5(OTUD6B):c.776C>A (p.Ser259Ter)
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.128+3G>C
NM_016077.5(PTRH2):c.515_516del (p.Val172fs)
NM_016122.3(CEP83):c.1588G>T (p.Glu530Ter)
NM_016213.5(TRIP4):c.1065del (p.Ile356fs) rs1891833492
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016261.4(TUBD1):c.280T>C (p.Phe94Leu)
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_016360.4(TACO1):c.472dup (p.His158fs) rs587776513
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.410G>T (p.Gly137Val) rs761879076
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs) rs1596646165
NM_016580.4(PCDH12):c.838G>T (p.Glu280Ter) rs1753196023
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
NM_016648.4(LARP7):c.832A>T (p.Lys278Ter) rs1060499762
NM_016729.3(FOLR1):c.610C>T (p.Arg204Ter) rs952165627
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) rs1029077401
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017534.6(MYH2):c.1313del (p.Met438fs)
NM_017534.6(MYH2):c.904+1G>C
NM_017588.3(WDR5):c.354+2dup
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) rs2124577339
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del) rs2148194204
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1413+1G>C rs587777821
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1489C>G (p.Arg497Gly)
NM_017739.4(POMGNT1):c.1502T>C (p.Phe501Ser) rs727502852
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs) rs1434252108
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.263del (p.Pro88fs) rs1557677980
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
NM_017739.4(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs) rs757322014
NM_017739.4(POMGNT1):c.56G>A (p.Arg19Gln)
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter) rs1156647434
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.653-2del
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017739.4(POMGNT1):c.878del (p.Pro293fs) rs752389406
NM_017739.4(POMGNT1):c.879+5G>T rs386834038
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017739.4(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
NM_017755.6(NSUN2):c.839dup (p.Asn280fs) rs1579370234
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017934.7(PHIP):c.895C>T (p.Leu299Phe)
NM_017946.4(FKBP14):c.207_208del (p.His69fs) rs1583734485
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)
NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter) rs587777049
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu) rs201153027
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.1580G>T (p.Cys527Phe)
NM_018082.6(POLR3B):c.1627+7A>G
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser) rs758867273
NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)
NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_018116.4(MSTO1):c.1433A>G (p.Tyr478Cys) rs1210628887
NM_018116.4(MSTO1):c.1435C>T (p.Pro479Ser) rs1674934230
NM_018116.4(MSTO1):c.707A>G (p.Asp236Gly) rs1674285118
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) rs2125105601
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs) rs1571596976
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) rs2125088498
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys)
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) rs1265362913
NM_018451.5(CENPJ):c.265_266del (p.Gln89fs) rs2138660627
NM_018486.3(HDAC8):c.1011dup (p.Thr338fs)
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs) rs1929136990
NM_018684.4(ZC4H2):c.3G>A (p.Met1Ile)
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs) rs1929057804
NM_018684.4(ZC4H2):c.551del (p.Pro184fs)
NM_018684.4(ZC4H2):c.561+7G>A rs1929057022
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs) rs1592708249
NM_018941.4(CLN8):c.637del (p.Trp213fs) rs2129015232
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
NM_019892.6(INPP5E):c.1159+16_1159+33del rs1239490197
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe) rs1300890772
NM_020207.7(ERCC6L2):c.3492+2T>G rs1588013817
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
NM_020338.4(ZMIZ1):c.1612_1613dup (p.Pro539fs)
NM_020366.4(RPGRIP1):c.1468-263G>C rs1594202505
NM_020366.4(RPGRIP1):c.1611+27G>A rs1594203796
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2020C>T (p.Pro674Ser) rs1328030621
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.3238+1G>A rs1325103400
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177
NM_020435.4(GJC2):c.768C>G (p.Cys256Trp) rs1571908096
NM_020451.3(SELENON):c.1011-1G>C rs1333001112
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) rs747284477
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1388-1G>C
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.746_747+36del rs2047932848
NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020451.3(SELENON):c.872+2T>C rs794727808
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020451.3(SELENON):c.877C>T (p.His293Tyr)
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_020533.3(MCOLN1):c.877G>A (p.Gly293Arg) rs1599254675
NM_020549.5(CHAT):c.1145A>G (p.Glu382Gly) rs2132799619
NM_020549.5(CHAT):c.1964T>C (p.Leu655Pro) rs2132852977
NM_020738.4(KIDINS220):c.3529-5G>T
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs) rs34141362
NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr) rs1592332125
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr) rs1208074975
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020919.4(ALS2):c.2580+2T>C rs2106023727
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) rs1689931402
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020964.3(EPG5):c.1252+1G>A
NM_020964.3(EPG5):c.2413-2A>G
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr) rs768220615
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) rs1555507479
NM_021224.6(ZNF462):c.2926A>G (p.Thr976Ala)
NM_021224.6(ZNF462):c.3502dup (p.Arg1168fs)
NM_021224.6(ZNF462):c.5112C>A (p.Tyr1704Ter)
NM_021224.6(ZNF462):c.5771G>A (p.Arg1924His)
NM_021224.6(ZNF462):c.6631del (p.Arg2211fs) rs1826656424
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021728.4(OTX2):c.677_678insTGTG (p.Leu227fs)
NM_021729.6(VPS11):c.2557A>G (p.Ser853Gly) rs1565746289
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs) rs1443792358
NM_021815.5(SLC5A7):c.742-2A>G
NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs)
NM_021971.4(GMPPB):c.291_294del (p.Ser98fs)
NM_022041.4(GAN):c.1503-2A>G
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
NM_022095.4(ZNF335):c.201+85G>A
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
NM_022455.5(NSD1):c.3922-9T>A
NM_022552.5(DNMT3A):c.1353_1356dup (p.Pro453fs)
NM_022893.4(BCL11A):c.1504G>T (p.Glu502Ter)
NM_023067.4(FOXL2):c.223C>T (p.Leu75Phe)
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024496.4(IRF2BPL):c.2137del (p.Leu713fs) rs1885090179
NM_024496.4(IRF2BPL):c.240_243del (p.Val81fs) rs1885190050
NM_024513.4(FYCO1):c.3456G>A (p.Trp1152Ter)
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024649.5(BBS1):c.1473+2T>G rs1856699646
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_024757.5(EHMT1):c.1051del (p.Asp351fs)
NM_024769.5(CLMP):c.508C>T (p.Arg170Ter) rs765907815
NM_024773.3(KDM8):c.1086+14_1086+21del rs773887912
NM_024809.5(TCTN2):c.1877dup (p.Leu626fs)
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_024854.5(PYROXD1):c.892_895del (p.Val298fs) rs757103085
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.4705-2A>C rs2137170380
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.315del (p.Ala106fs) rs1595940106
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter) rs1595817021
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter) rs765477482
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val) rs199970847
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.1961_1962insA (p.Ser654_Ser655insTer)
NM_030632.3(ASXL3):c.902_911del (p.Arg301fs)
NM_030650.3(LNPK):c.402_405del (p.Leu134fs)
NM_031263.4(HNRNPK):c.1361+7T>G
NM_031263.4(HNRNPK):c.214-6A>G
NM_031263.4(HNRNPK):c.575T>G (p.Val192Gly)
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) rs1680691597
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.851A>T (p.Asn284Ile) rs377749641
NM_031885.5(BBS2):c.940+3A>C rs2144150079
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032525.3(TUBB6):c.1228G>A (p.Glu410Lys)
NM_032525.3(TUBB6):c.375G>C (p.Glu125Asp)
NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys) rs1589568530
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr) rs1589441679
NM_032581.4(HYCC1):c.100_101del (p.Lys34fs) rs1562502139
NM_032709.3(PYROXD2):c.1062+2T>G
NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly) rs1776724608
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032861.4(SERAC1):c.*258G>A
NM_033026.6(PCLO):c.2532dup (p.Gln845fs) rs1584071201
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_033100.4(CDHR1):c.10del (p.Cys4fs) rs2132782773
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter) rs1842216995
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_033419.5(PGAP3):c.402dup (p.Met135fs) rs869312812
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_052867.4(NALCN):c.2364+4A>T rs2139645297
NM_052867.4(NALCN):c.2671del (p.Val891fs) rs1594211911
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803
NM_052988.5(CDK10):c.550_556del (p.Leu184fs) rs1597864006
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) rs1638552845
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_130466.4(UBE3B):c.2569-2A>C
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.3032T>C (p.Leu1011Pro) rs2109460739
NM_130839.5(UBE3A):c.488dup (p.Ser163fs)
NM_134261.3(RORA):c.275G>C (p.Gly92Ala) rs1555427498
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138576.4(BCL11B):c.1535_1536del (p.Ala512fs)
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) rs121909244
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln) rs148195788
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_138927.4(SON):c.232C>T (p.Arg78Ter)
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_144499.3(GNAT1):c.508G>T (p.Val170Leu) rs149647295
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) rs1568572298
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152328.5(ADSS1):c.741del (p.Lys248fs) rs769542442
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr) rs1594865719
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) rs1558417340
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.412+1G>T rs1057517295
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) rs1562582216
NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del) rs1228744373
NM_152906.7(TANGO2):c.380+1G>A rs1602255030
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) rs1191958022
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) rs896249235
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.6(TMEM67):c.1575+5G>A rs1554555063
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_172240.3(POC1B):c.317G>C (p.Arg106Pro) rs76216585
NM_173630.4(RTTN):c.5186-1G>C
NM_173630.4(RTTN):c.6154-16_6154-13del rs765143937
NM_173660.5(DOK7):c.533-2A>G
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln) rs765237979
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile) rs1311732049
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys) rs747526311
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_177550.5(SLC13A5):c.716+5G>A rs1057518298
NM_177965.4(CFAP418):c.3G>A (p.Met1Ile) rs1249678588
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
NM_178014.4(TUBB):c.852del (p.Thr285fs)
NM_181332.3(NLGN4X):c.626-1G>A
NM_181503.3(EXOSC8):c.17+1G>T rs1412754843
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) rs1593709247
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys) rs1554534086
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_181552.4(CUX1):c.691A>G (p.Met231Val)
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) rs1602152230
NM_181789.4(GLDN):c.363+1G>A rs556661550
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) rs1595795307
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.1239del (p.Asn414fs) rs1584768283
NM_182931.3(KMT2E):c.1603del (p.Leu535fs) rs1584783327
NM_182931.3(KMT2E):c.167del (p.Tyr56fs) rs1584745301
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.1812del (p.Ile605fs) rs1584796727
NM_182931.3(KMT2E):c.2261del (p.Leu753_Ser754insTer) rs1584802161
NM_182931.3(KMT2E):c.2602_2605del (p.Thr868fs) rs1584803713
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter) rs1584803745
NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val) rs1584803942
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_182931.3(KMT2E):c.2936del (p.Leu979fs) rs1584805072
NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter) rs1562931936
NM_182931.3(KMT2E):c.3193_3230del (p.Ser1065fs) rs1584805738
NM_182931.3(KMT2E):c.3198del (p.Trp1067fs) rs1584805745
NM_182931.3(KMT2E):c.3494_3495del (p.Arg1165fs) rs1584807827
NM_182931.3(KMT2E):c.3527_3530del (p.Thr1176fs) rs1584807875
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) rs186916831
NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer) rs1584808269
NM_182931.3(KMT2E):c.4126C>T (p.Pro1376Ser) rs1584816566
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile) rs74375534
NM_182931.3(KMT2E):c.4397_4398insCACAGCATGGTTATCTTTC (p.Pro1467fs) rs1584817521
NM_182931.3(KMT2E):c.4485_4486del (p.Gln1496fs) rs1584817845
NM_182931.3(KMT2E):c.450del (p.Asp150fs) rs1584751179
NM_182931.3(KMT2E):c.4829del (p.Leu1610fs) rs1243172283
NM_182931.3(KMT2E):c.4872del (p.Ala1624_Val1625insTer) rs1584819461
NM_182931.3(KMT2E):c.5453_5460del (p.Val1818fs) rs1584821980
NM_182931.3(KMT2E):c.556+1G>A rs1584761229
NM_182931.3(KMT2E):c.850T>C (p.Tyr284His) rs868001076
NM_182931.3(KMT2E):c.997del (p.Glu333fs) rs1584765943
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln) rs762873672
NM_183075.3(CYP2U1):c.1547del (p.Pro516fs)
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) rs769824247
NM_198535.3(ZNF699):c.175+1G>A rs749115647
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) rs1403101337
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg) rs1571897130
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.222C>G (p.Cys74Trp) rs772819260
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)
NM_201384.3(PLEC):c.1210G>T (p.Glu404Ter)
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter) rs2148657996
NM_201548.5(CERKL):c.420del (p.Ile141fs) rs398122962
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) rs1602070472
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu) rs1572531765
NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)
NM_205768.3(ZBTB18):c.306del (p.Ile103fs)
NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs)
NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala) rs2124489724
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) rs1183957540
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) rs1553261372
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu) rs1472714005
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser) rs111033273
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.2810-1G>A rs778336512
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs) rs2102549174
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys) rs1026326311
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207037.2(TCF12):c.1991del (p.Asn664fs)
NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu)
NM_212552.3(BOLA3):c.253A>G (p.Asn85Asp) rs2103649867
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.1630+2T>G rs1590300702
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser) rs1233836740
NM_213599.3(ANO5):c.395A>T (p.Lys132Met) rs1852872996
NM_213599.3(ANO5):c.649-2A>G rs773736505
Single allele

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