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
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NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter)
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rs186916831
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NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer)
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rs1584808269
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NM_182931.3(KMT2E):c.4126C>T (p.Pro1376Ser)
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rs1584816566
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NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)
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rs74375534
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NM_182931.3(KMT2E):c.4397_4398insCACAGCATGGTTATCTTTC (p.Pro1467fs)
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rs1584817521
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NM_182931.3(KMT2E):c.4485_4486del (p.Gln1496fs)
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rs1584817845
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NM_182931.3(KMT2E):c.450del (p.Asp150fs)
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rs1584751179
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NM_182931.3(KMT2E):c.4829del (p.Leu1610fs)
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rs1243172283
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NM_182931.3(KMT2E):c.4872del (p.Ala1624_Val1625insTer)
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rs1584819461
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NM_182931.3(KMT2E):c.5453_5460del (p.Val1818fs)
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rs1584821980
|
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NM_182931.3(KMT2E):c.556+1G>A
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rs1584761229
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NM_182931.3(KMT2E):c.850T>C (p.Tyr284His)
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rs868001076
|
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NM_182931.3(KMT2E):c.997del (p.Glu333fs)
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rs1584765943
|
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NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)
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rs762873672
|
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NM_183075.3(CYP2U1):c.1547del (p.Pro516fs)
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|
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NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)
|
rs769824247
|
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NM_198535.3(ZNF699):c.175+1G>A
|
rs749115647
|
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NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter)
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rs1403101337
|
|
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)
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|
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NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg)
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rs1571897130
|
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NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
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rs866822473
|
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NM_201253.3(CRB1):c.222C>G (p.Cys74Trp)
|
rs772819260
|
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NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs)
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rs62636270
|
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NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)
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|
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NM_201384.3(PLEC):c.1210G>T (p.Glu404Ter)
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|
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NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro)
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rs587783653
|
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NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter)
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rs2148657996
|
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NM_201548.5(CERKL):c.420del (p.Ile141fs)
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rs398122962
|
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NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)
|
rs1602070472
|
|
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu)
|
rs1572531765
|
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NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)
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|
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NM_205768.3(ZBTB18):c.306del (p.Ile103fs)
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|
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NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs)
|
|
|
NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala)
|
rs2124489724
|
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NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)
|
rs1183957540
|
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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
|
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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
|
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NM_213599.3(ANO5):c.649-2A>G
|
rs773736505
|
|
Single allele
|
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