NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)
|
rs104893837
|
0.00132
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)
|
rs139076647
|
0.00022
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
|
rs375032130
|
0.00009
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)
|
rs199801224
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
|
rs119103236
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)
|
rs768527231
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)
|
rs28940269
|
0.00004
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)
|
rs143595616
|
0.00003
|
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)
|
rs375700548
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)
|
rs202238194
|
0.00002
|
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)
|
rs370283860
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_152416.4(NDUFAF6):c.420+784C>T
|
rs749738738
|
0.00002
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)
|
rs72549310
|
0.00001
|
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)
|
rs1046670041
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)
|
rs201868387
|
0.00001
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)
|
rs769501930
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)
|
rs748981899
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)
|
rs150966634
|
0.00001
|
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)
|
rs768568123
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)
|
rs1162037663
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153704.6(TMEM67):c.2322+2dup
|
rs386834192
|
0.00001
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del)
|
rs869025522
|
|
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)
|
rs1554066659
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
|
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.544+3_544+6del
|
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)
|
rs104894164
|
|
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)
|
rs2125501418
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
|
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001010867.4(IBA57):c.262dup (p.Ala88fs)
|
rs1558123212
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)
|
rs1553328170
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)
|
rs137852693
|
|
NM_001080517.3(SETD5):c.960-5C>G
|
rs2125193661
|
|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
|
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)
|
rs2144711571
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter)
|
rs781843315
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)
|
rs387906652
|
|
NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys)
|
rs2136209186
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)
|
rs1253072668
|
|
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)
|
rs1567214097
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter)
|
rs2078539742
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)
|
rs886041354
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)
|
rs2145192459
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001368882.1(COL13A1):c.513del (p.Gly172fs)
|
rs1564932829
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn)
|
rs2137081759
|
|
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
|
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)
|
rs1057518414
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003091.4(SNRPB):c.155+301G>C
|
rs786201019
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003238.6(TGFB2):c.933-1G>A
|
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
|
rs782416867
|
|
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)
|
rs1555188155
|
|
NM_003482.4(KMT2D):c.14075+1G>A
|
rs1057516039
|
|
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)
|
rs113994057
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_004218.4(RAB11B):c.64G>A (p.Val22Met)
|
rs1555690779
|
|
NM_004444.5(EPHB4):c.2484+1G>A
|
rs927772349
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005378.6(MYCN):c.134dup (p.Glu47fs)
|
rs780080562
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)
|
rs886043627
|
|
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)
|
rs1942168488
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006852.6(TLK2):c.1121+1G>A
|
rs2146617330
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)
|
rs866688232
|
|
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1413+3_1413+6del
|
rs570685843
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)
|
rs121434512
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)
|
rs776597537
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
|
rs146664036
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018238.4(AGK):c.424-3C>G
|
rs766413410
|
|
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)
|
rs137962226
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
|
|
|
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)
|
rs1674313030
|
|
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)
|
rs148402804
|
|
NM_020988.3(GNAO1):c.724-8G>A
|
rs1085307876
|
|
NM_021095.4(SLC5A6):c.393+2T>C
|
|
|
NM_021871.4(FGA):c.713del (p.Lys238fs)
|
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_023110.3(FGFR1):c.1977+1G>A
|
rs876661334
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)
|
rs1052954321
|
|
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter)
|
rs2145432318
|
|
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)
|
rs1944570170
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp)
|
rs2093132159
|
|
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)
|
rs1816336903
|
|
NM_078629.4(MSL3):c.1466+1G>A
|
rs1601774648
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)
|
rs1114167303
|
|
NM_144672.4(OTOA):c.828del (p.Ser277fs)
|
rs751447996
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_152515.5(CKAP2L):c.501del (p.Asn167fs)
|
rs2104884982
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)
|
rs2131435199
|
|
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)
|
rs569826109
|
|